ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
ClinVar version:

Total variants with conflicting interpretations: 10870

HGVS dbSNP gnomAD frequency
NM_003126.4(SPTA1):c.6531-12C>T rs28525570 0.25447
NM_000041.4(APOE):c.388T>C (p.Cys130Arg) rs429358 0.16059
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000140.5(FECH):c.315-48T>C rs2272783 0.06200
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466 0.04126
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_000500.9(CYP21A2):c.*13G>A rs6447 0.01770
NM_000243.3(MEFV):c.1105C>T (p.Pro369Ser) rs11466023 0.01590
NM_000243.3(MEFV):c.1223G>A (p.Arg408Gln) rs11466024 0.01456
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622 0.00966
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000492.4(CFTR):c.1210-11T>G rs73715573 0.00886
NM_004369.4(COL6A3):c.1613C>T (p.Thr538Met) rs34741387 0.00817
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648 0.00779
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785 0.00693
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564 0.00654
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330 0.00630
NM_001267550.2(TTN):c.30683-2A>T rs886043892 0.00604
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_000350.3(ABCA4):c.4253+43G>A rs61754045 0.00486
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_015465.5(GEMIN5):c.3046C>T (p.Arg1016Cys) rs61749643 0.00455
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345 0.00446
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala) rs76157638 0.00445
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_001384900.1(SEMA3D):c.1272C>A (p.His424Gln) rs141893504 0.00428
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) rs121909293 0.00386
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_001142800.2(EYS):c.977G>A (p.Ser326Asn) rs112822256 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly) rs139548132 0.00360
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224 0.00354
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746 0.00354
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_025152.3(NUBPL):c.815-27T>C rs118161496 0.00348
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481 0.00347
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val) rs28933390 0.00310
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00299
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_020987.5(ANK3):c.5582C>T (p.Thr1861Met) rs117475706 0.00292
NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met) rs140317484 0.00287
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro) rs2904551 0.00282
NM_033337.3(CAV3):c.-37G>A rs116840771 0.00282
NM_000350.3(ABCA4):c.455G>A (p.Arg152Gln) rs62646862 0.00276
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met) rs35960726 0.00270
NM_004252.5(NHERF1):c.458G>A (p.Arg153Gln) rs41282065 0.00267
NM_012275.3(IL36RN):c.338C>T (p.Ser113Leu) rs144478519 0.00264
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_019098.5(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413 0.00248
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_144991.3(TSPEAR):c.1915G>A (p.Asp639Asn) rs138480801 0.00244
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353 0.00238
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000441.2(SLC26A4):c.*239C>T rs113516368 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001756.4(SERPINA6):c.344T>A (p.Leu115His) rs113418909 0.00236
NM_014363.6(SACS):c.10611A>G (p.Ala3537=) rs137856939 0.00236
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_001081.4(CUBN):c.6125-2A>G rs75386064 0.00226
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00212
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs) rs565866662 0.00212
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470 0.00211
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp) rs139084702 0.00200
NM_001358263.1(HK1):c.75+20082A>G rs187500777 0.00198
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg) rs61749455 0.00194
NM_007272.3(CTRC):c.640-12G>A rs183053579 0.00194
NM_138289.4(ACTRT1):c.547dup (p.Met183fs) rs771087307 0.00191
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_000350.3(ABCA4):c.1610G>A (p.Arg537His) rs61752395 0.00176
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791 0.00174
NM_000488.4(SERPINC1):c.89T>A (p.Val30Glu) rs2227624 0.00171
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_006214.4(PHYH):c.1010_1012dup (p.Asn337_Leu338insHis) rs566116760 0.00167
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493 0.00166
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His) rs200473652 0.00163
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs11394094 0.00159
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693 0.00154
NM_001486.4(GCKR):c.307G>A (p.Val103Met) rs146175795 0.00151
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001486.4(GCKR):c.1135dup (p.Thr379fs) rs573498430 0.00149
NM_016335.6(PRODH):c.1217C>T (p.Pro406Leu) rs3970555 0.00149
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_001089.3(ABCA3):c.839G>A (p.Arg280His) rs143008553 0.00141
NM_006214.4(PHYH):c.244C>G (p.Arg82Gly) rs145404396 0.00140
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met) rs58331765 0.00136
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959 0.00133
NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr) rs1762111 0.00132
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615 0.00131
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) rs121909075 0.00129
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala) rs80265967 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_006715.4(MAN2C1):c.601-2A>G rs147928844 0.00120
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00118
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411 0.00116
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_001807.6(CEL):c.2172del (p.Val725fs) rs780419796 0.00115
NM_007254.4(PNKP):c.1029+2T>C rs199919568 0.00115
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_000488.4(SERPINC1):c.1246G>T (p.Ala416Ser) rs121909548 0.00112
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter) rs147398904 0.00111
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_004130.4(GYG1):c.304G>C (p.Asp102His) rs143137713 0.00109
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000036.3(AMPD1):c.468G>T (p.Gln156His) rs139582106 0.00096
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr) rs116471343 0.00096
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile) rs146803767 0.00093
NM_000488.4(SERPINC1):c.218C>T (p.Pro73Leu) rs121909551 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_001292063.2(OTOG):c.7693+1G>A rs548496846 0.00091
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_080911.3(UNG):c.262C>T (p.Arg88Cys) rs151095402 0.00090
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser) rs200631556 0.00090
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_000350.3(ABCA4):c.5077G>A (p.Val1693Ile) rs61750563 0.00088
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_005357.4(LIPE):c.551C>A (p.Ser184Ter) rs149927060 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983 0.00080
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_000275.3(OCA2):c.1117-17T>C rs200081580 0.00078
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_004525.3(LRP2):c.6160G>A (p.Asp2054Asn) rs138269726 0.00078
NM_022829.6(SLC13A3):c.1016+3A>G rs199961976 0.00078
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001081.4(CUBN):c.3G>T (p.Met1Ile) rs11254385 0.00076
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_006005.3(WFS1):c.1597C>T (p.Pro533Ser) rs146132083 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_032885.6(ATG4D):c.266G>A (p.Ser89Asn) rs200278873 0.00075
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val) rs116135678 0.00074
NM_018706.7(DHTKD1):c.488G>A (p.Arg163Gln) rs78189904 0.00074
NM_000070.3(CAPN3):c.2257G>A (p.Asp753Asn) rs146923842 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter) rs139309795 0.00072
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000384.3(APOB):c.3740A>G (p.Tyr1247Cys) rs61741164 0.00071
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794 0.00071
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00071
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837 0.00071
NM_145199.3(LIPT1):c.369del (p.Lys123fs) rs552120721 0.00071
NM_014669.5(NUP93):c.1162C>T (p.Arg388Trp) rs145146218 0.00070
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_002470.4(MYH3):c.875C>G (p.Ser292Cys) rs139480342 0.00068
NM_016366.3(CABP2):c.590T>C (p.Ile197Thr) rs145369252 0.00068
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu) rs146579299 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr) rs515726209 0.00067
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_001039876.3(SYNE4):c.699G>A (p.Trp233Ter) rs200484521 0.00066
NM_001098816.3(TENM4):c.4895G>A (p.Arg1632His) rs199687168 0.00066
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp) rs202070666 0.00066
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_198076.6(COX20):c.157+3G>C rs367956888 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556 0.00064
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr) rs184758350 0.00063
NM_138964.4(PROKR1):c.1019T>A (p.Leu340Gln) rs144018404 0.00063
NM_001195248.2(APTX):c.-5+1G>T rs146487634 0.00062
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_000080.4(CHRNE):c.103T>C (p.Tyr35His) rs144169073 0.00061
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr) rs151201155 0.00061
NM_000249.4(MLH1):c.1039-7_1040del rs1559551447 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_001001548.3(CD36):c.1133G>T (p.Gly378Val) rs146027667 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_145207.3(AFG2A):c.1964G>A (p.Arg655Gln) rs147873489 0.00058
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly) rs138435128 0.00058
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093 0.00057
NM_000379.4(XDH):c.1686+1G>C rs148412639 0.00057
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr) rs138613460 0.00057
NM_172364.5(CACNA2D4):c.2406C>A (p.Tyr802Ter) rs71454844 0.00057
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_001365276.2(TNXB):c.6074A>T (p.Asp2025Val) rs201397168 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met) rs143319805 0.00056
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00056
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg) rs141103838 0.00056
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His) rs368075745 0.00055
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605 0.00055
NM_000275.3(OCA2):c.1255C>T (p.Arg419Trp) rs143218168 0.00054
NM_001039141.3(TRIOBP):c.5014G>T (p.Gly1672Ter) rs200045032 0.00054
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val) rs370382601 0.00053
NM_003482.4(KMT2D):c.15797G>A (p.Arg5266His) rs201481646 0.00053
NM_007098.4(CLTCL1):c.988G>A (p.Glu330Lys) rs199652160 0.00053
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala) rs138930771 0.00053
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys) rs121434532 0.00052
NM_024079.5(ALG8):c.478+1G>A rs139832787 0.00052
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037 0.00051
NM_145870.3(GSTZ1):c.295G>A (p.Val99Met) rs140540096 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala) rs61743088 0.00050
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747 0.00049
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro) rs147200024 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001277115.2(DNAH11):c.10472G>A (p.Arg3491His) rs370932895 0.00048
NM_025103.4(IFT74):c.120+2dup rs551515830 0.00048
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175 0.00047
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser) rs199610919 0.00046
NM_000080.4(CHRNE):c.901G>A (p.Val301Met) rs140023380 0.00046
NM_001146079.2(CLDN14):c.488C>T (p.Ala163Val) rs143797113 0.00046
NM_004562.3(PRKN):c.766C>T (p.Arg256Cys) rs150562946 0.00046
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_012144.4(DNAI1):c.389-1G>C rs200488444 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_144508.5(KNL1):c.2815A>T (p.Met939Leu) rs145740834 0.00045
NM_001145165.2(DOHH):c.455C>T (p.Pro152Leu) rs553950608 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr) rs149196615 0.00044
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001218.5(CA12):c.908-1G>A rs148438059 0.00043
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652 0.00043
NM_139027.6(ADAMTS13):c.559G>C (p.Asp187His) rs148312697 0.00043
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665 0.00042
NM_025150.5(TARS2):c.773C>T (p.Ser258Leu) rs145039072 0.00042
NM_000153.4(GALC):c.235C>T (p.Arg79Cys) rs73312829 0.00041
NM_000298.6(PKLR):c.1435C>T (p.Arg479Cys) rs201406712 0.00041
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771 0.00041
NM_001142864.4(PIEZO1):c.1107+1G>C rs199524784 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_024753.5(TTC21B):c.2014C>T (p.Arg672Trp) rs140757802 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000204.5(CFI):c.355G>A (p.Gly119Arg) rs141853578 0.00040
NM_000313.4(PROS1):c.284G>A (p.Gly95Glu) rs144526169 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu) rs201077964 0.00040
NM_001378454.1(ALMS1):c.12004C>T (p.Arg4002Trp) rs200897773 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000492.4(CFTR):c.1865G>A (p.Gly622Asp) rs121908759 0.00039
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000500.9(CYP21A2):c.1451G>C (p.Arg484Pro) rs200005406 0.00039
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) rs762279651 0.00039
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr) rs202201763 0.00039
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp) rs201201843 0.00039
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00038
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_002474.3(MYH11):c.5273G>A (p.Arg1758Gln) rs142546324 0.00038
NM_004525.3(LRP2):c.11288A>T (p.Glu3763Val) rs200475391 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_001609.4(ACADSB):c.303+1G>A rs147936696 0.00037
NM_002640.4(SERPINB8):c.850C>T (p.Arg284Ter) rs144666367 0.00037
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000505.4(F12):c.1681-1G>A rs199988476 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_001171.6(ABCC6):c.1703T>C (p.Phe568Ser) rs66864704 0.00036
NM_002303.6(LEPR):c.1835G>A (p.Arg612His) rs144159890 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro) rs781136336 0.00035
NM_000261.2(MYOC):c.1334C>T (p.Ala445Val) rs140967767 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_001048174.2(MUTYH):c.850-2A>G rs77542170 0.00035
NM_001077415.3(CRELD1):c.959del (p.Gln320fs) rs759473511 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp) rs145141811 0.00035
NM_000463.3(UGT1A1):c.674T>G (p.Val225Gly) rs35003977 0.00034
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190 0.00034
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly) rs143388292 0.00034
NM_001142800.2(EYS):c.2137+1G>A rs199740930 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877 0.00034
NM_016180.5(SLC45A2):c.1518C>T (p.Val506=) rs150473213 0.00034
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973 0.00034
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596 0.00034
NM_139281.3(WDR36):c.896A>G (p.Asn299Ser) rs118204022 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_000350.3(ABCA4):c.514G>A (p.Gly172Ser) rs61748532 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_206965.2(FTCD):c.319T>C (p.Cys107Arg) rs377359525 0.00033
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) rs371412500 0.00032
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) rs45447801 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_015202.5(KATNIP):c.1730G>A (p.Trp577Ter) rs200353633 0.00032
NM_022042.4(SLC26A1):c.1073C>T (p.Ser358Leu) rs148832260 0.00032
NR_033294.2(SNORD118):n.24C>T rs368022715 0.00032
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000055.4(BCHE):c.435_436insG (p.Phe146fs) rs774072493 0.00031
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser) rs61761869 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875 0.00031
NM_024301.5(FKRP):c.898G>A (p.Val300Met) rs563033008 0.00031
NM_145038.5(DRC1):c.352C>T (p.Gln118Ter) rs142371860 0.00031
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_001171.6(ABCC6):c.1108A>G (p.Asn370Asp) rs72653760 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_024513.4(FYCO1):c.265C>T (p.Arg89Cys) rs141476300 0.00030
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000372.5(TYR):c.649C>T (p.Arg217Trp) rs63159160 0.00029
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_000540.3(RYR1):c.1598G>A (p.Arg533His) rs144336148 0.00029
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_015693.4(INTU):c.1628G>A (p.Arg543His) rs34027211 0.00029
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_000168.6(GLI3):c.2119C>T (p.Pro707Ser) rs121917716 0.00028
NM_001171.6(ABCC6):c.496C>T (p.Arg166Cys) rs201766106 0.00028
NM_001849.4(COL6A2):c.2585G>A (p.Arg862Gln) rs367658663 0.00028
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_005026.5(PIK3CD):c.598G>A (p.Glu200Lys) rs141200414 0.00028
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys) rs202060864 0.00028
NM_014321.4(ORC6):c.2T>C (p.Met1Thr) rs146795505 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_025150.5(TARS2):c.1354C>T (p.Arg452Trp) rs146503501 0.00028
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter) rs139455627 0.00027
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr) rs148044781 0.00026
NM_000312.4(PROC):c.565C>T (p.Arg189Trp) rs146922325 0.00026
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829 0.00026
NM_001369.3(DNAH5):c.2431+5G>A rs369244905 0.00026
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly) rs137853027 0.00026
NM_005422.4(TECTA):c.327C>T (p.Gly109=) rs727504830 0.00026
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) rs140872693 0.00026
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_016239.4(MYO15A):c.9620G>A (p.Arg3207His) rs199621031 0.00026
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile) rs200393300 0.00026
NM_020631.6(PLEKHG5):c.440-2A>G rs144750655 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760 0.00026
NM_206933.4(USH2A):c.13133C>T (p.Pro4378Leu) rs570277510 0.00026
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967 0.00025
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000097.7(CPOX):c.1339C>T (p.Arg447Cys) rs28931603 0.00025
NM_000275.3(OCA2):c.1025A>G (p.Tyr342Cys) rs142931246 0.00025
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala) rs139661242 0.00025
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr) rs143676440 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NR_023343.3(RNU4ATAC):n.8C>T rs370715569 0.00025
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe) rs1800408 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000743.5(CHRNA3):c.907_908del (p.Leu303fs) rs538193392 0.00024
NM_001080442.3(SLC38A8):c.848A>C (p.Asp283Ala) rs139373929 0.00024
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00024
NM_002769.5(PRSS1):c.623G>C (p.Gly208Ala) rs189270875 0.00024
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_006031.6(PCNT):c.9661C>T (p.Arg3221Trp) rs141304187 0.00024
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp) rs370359511 0.00024
NM_006796.3(AFG3L2):c.2167G>A (p.Val723Met) rs139469785 0.00024
NM_014270.5(SLC7A9):c.829G>A (p.Val277Met) rs147344717 0.00024
NM_014672.4(PRORP):c.1235A>G (p.Asn412Ser) rs148259590 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys) rs139194636 0.00024
NM_016004.5(IFT52):c.931G>A (p.Glu311Lys) rs145672738 0.00024
NM_016239.4(MYO15A):c.5978G>A (p.Arg1993Gln) rs117071200 0.00024
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764 0.00024
NM_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001363711.2(DUOX2):c.1516G>A (p.Asp506Asn) rs200134167 0.00023
NM_004937.3(CTNS):c.444G>A (p.Met148Ile) rs199977728 0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) rs541943893 0.00023
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met) rs79987078 0.00023
NM_199069.2(NDUFAF3):c.188dup (p.Tyr63Ter) rs756339822 0.00023
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213 0.00022
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_001366385.1(CARD14):c.205C>T (p.Arg69Trp) rs375624435 0.00022
NM_001384474.1(LOXHD1):c.1571G>A (p.Arg524His) rs187658135 0.00022
NM_003500.4(ACOX2):c.673C>T (p.Arg225Trp) rs150832314 0.00022
NM_003850.3(SUCLA2):c.1220G>T (p.Arg407Leu) rs141295770 0.00022
NM_005422.4(TECTA):c.2827C>A (p.Leu943Met) rs139158022 0.00022
NM_006005.3(WFS1):c.1957C>T (p.Arg653Cys) rs201064551 0.00022
NM_014865.4(NCAPD2):c.1954+1G>A rs149296057 0.00022
NM_016938.5(EFEMP2):c.409A>T (p.Ser137Cys) rs1306393544 0.00022
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_145200.5(CABP4):c.370C>T (p.Arg124Cys) rs121917828 0.00022
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys) rs72480442 0.00021
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987 0.00021
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_001081.4(CUBN):c.9079G>A (p.Gly3027Arg) rs150202444 0.00021
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter) rs149102421 0.00021
NM_004667.6(HERC2):c.10474T>C (p.Ser3492Pro) rs185865505 0.00021
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser) rs201367228 0.00021
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys) rs72553876 0.00021
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser) rs139040517 0.00021
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys) rs144181978 0.00021
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln) rs72546338 0.00021
NM_207352.4(CYP4V2):c.367A>G (p.Met123Val) rs149684063 0.00021
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_001102564.3(IFT43):c.296-5602T>C rs141114765 0.00020
NM_001109878.2(TBX22):c.459-5T>A rs200060292 0.00020
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_003049.4(SLC10A1):c.755G>A (p.Arg252His) rs147226818 0.00020
NM_005033.3(EXOSC9):c.522+1G>A rs151134983 0.00020
NM_012452.3(TNFRSF13B):c.515G>A (p.Cys172Tyr) rs751216929 0.00020
NM_017433.5(MYO3A):c.4681C>T (p.Arg1561Ter) rs138593211 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000371.4(TTR):c.190T>C (p.Phe64Leu) rs138065384 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr) rs142773283 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_001040108.2(MLH3):c.3563C>G (p.Ser1188Ter) rs193219754 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001126108.2(SLC12A3):c.1967C>T (p.Pro656Leu) rs140363569 0.00019
NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter) rs137852862 0.00019
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp) rs138680796 0.00019
NM_001354768.3(NRL):c.654del (p.Cys219fs) rs761024023 0.00019
NM_003126.4(SPTA1):c.620T>C (p.Leu207Pro) rs121918643 0.00019
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) rs199615848 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_004560.4(ROR2):c.1675G>A (p.Gly559Ser) rs117134265 0.00019
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter) rs200503833 0.00019
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile) rs200644381 0.00019
NM_014384.3(ACAD8):c.958G>A (p.Ala320Thr) rs200620279 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_025216.3(WNT10A):c.487C>T (p.Arg163Trp) rs368280129 0.00019
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met) rs115282699 0.00019
NM_145199.3(LIPT1):c.292C>G (p.Arg98Gly) rs137973334 0.00019
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu) rs201709513 0.00019
NM_000275.3(OCA2):c.727C>T (p.Arg243Cys) rs138065338 0.00018
NM_000488.4(SERPINC1):c.236G>A (p.Arg79His) rs121909552 0.00018
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_003052.5(SLC34A1):c.1204G>C (p.Gly402Arg) rs376131751 0.00018
NM_005592.4(MUSK):c.2368G>A (p.Val790Met) rs199476083 0.00018
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp) rs142835989 0.00018
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter) rs561778744 0.00018
NM_015346.4(ZFYVE26):c.6154G>A (p.Val2052Ile) rs201273304 0.00018
NM_017433.5(MYO3A):c.2506-1G>A rs201023600 0.00018
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00017
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392 0.00017
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe) rs145254330 0.00017
NM_000512.5(GALNS):c.850T>G (p.Phe284Val) rs144067930 0.00017
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_001177316.2(SLC34A3):c.1612C>T (p.Arg538Trp) rs140319849 0.00017
NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter) rs201442213 0.00017
NM_001326411.2(PISD):c.830G>A (p.Arg277Gln) rs147371584 0.00017
NM_001363711.2(DUOX2):c.3391G>A (p.Ala1131Thr) rs147540920 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_016222.4(DDX41):c.490C>T (p.Arg164Trp) rs142143752 0.00017
NM_016335.6(PRODH):c.930-1G>C rs751149776 0.00017
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000336.3(SCNN1B):c.1688G>A (p.Arg563Gln) rs149868979 0.00016
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000492.4(CFTR):c.489+3A>G rs377729736 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_001002294.3(FMO3):c.172G>A (p.Val58Ile) rs144935285 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001143992.2(WRAP53):c.1192C>T (p.Arg398Trp) rs281865548 0.00016
NM_001206744.2(TPO):c.2647C>T (p.Pro883Ser) rs190968346 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672 0.00016
NM_001277115.2(DNAH11):c.6506C>T (p.Ser2169Leu) rs373946181 0.00016
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter) rs200800978 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_005912.3(MC4R):c.508A>G (p.Ile170Val) rs121913560 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_006005.3(WFS1):c.2122C>T (p.Arg708Cys) rs200099217 0.00016
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) rs202219343 0.00016
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702 0.00016
NM_014321.4(ORC6):c.449+5G>A rs572314014 0.00016
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn) rs200406024 0.00016
NM_015466.4(PTPN23):c.1291C>T (p.Arg431Trp) rs150712932 0.00016
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe) rs202020308 0.00016
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu) rs145888229 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg) rs199761861 0.00016
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met) rs139024319 0.00016
NM_022367.4(SEMA4A):c.302T>C (p.Ile101Thr) rs149652495 0.00016
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val) rs201803986 0.00016
NM_138694.4(PKHD1):c.9662C>T (p.Pro3221Leu) rs145141656 0.00016
NM_145059.3(FCSK):c.2047C>T (p.Arg683Cys) rs755169246 0.00016
NM_152558.5(IQCE):c.572_579+1del rs765134641 0.00016
NM_000053.4(ATP7B):c.3583G>A (p.Ala1195Thr) rs202218969 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys) rs371146201 0.00015
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs) rs782339984 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu) rs121908114 0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000083.3(CLCN1):c.313C>T (p.Arg105Cys) rs201509501 0.00014
NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile) rs267607134 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000250.2(MPO):c.604G>T (p.Glu202Ter) rs778013714 0.00014
NM_000350.3(ABCA4):c.2673A>T (p.Glu891Asp) rs766079334 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000393.5(COL5A2):c.322+1G>C rs770598613 0.00014
NM_000497.4(CYP11B1):c.449C>T (p.Ser150Leu) rs142484434 0.00014
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter) rs766383135 0.00014
NM_000540.3(RYR1):c.2275A>G (p.Asn759Asp) rs147320363 0.00014
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908 0.00014
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro) rs150802299 0.00014
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys) rs144598063 0.00014
NM_001267550.2(TTN):c.38122+2T>C rs781392575 0.00014
NM_001298.3(CNGA3):c.101+1G>A rs147118493 0.00014
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001369.3(DNAH5):c.13775G>A (p.Arg4592Gln) rs367709427 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00014
NM_003366.4(UQCRC2):c.361T>C (p.Tyr121His) rs778618710 0.00014
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu) rs137852937 0.00014
NM_004004.6(GJB2):c.110T>C (p.Val37Ala) rs141774369 0.00014
NM_005908.4(MANBA):c.1499G>A (p.Arg500His) rs147542645 0.00014
NM_005957.5(MTHFR):c.1162C>T (p.Arg388Cys) rs200138092 0.00014
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys) rs150283105 0.00014
NM_016955.4(SEPSECS):c.548-1G>A rs200041461 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_018136.5(ASPM):c.9294+2T>C rs199503603 0.00014
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222 0.00014
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429 0.00014
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381 0.00014
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_176787.5(PIGN):c.2679C>G (p.Ser893Arg) rs199573774 0.00014
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963 0.00014
NM_206933.4(USH2A):c.6937G>T (p.Gly2313Cys) rs199840367 0.00014
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000169.3(GLA):c.1088G>A (p.Arg363His) rs111422676 0.00013
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter) rs200563280 0.00013
NM_001001548.3(CD36):c.430-2A>G rs3211901 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001369.3(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170 0.00013
NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe) rs185504536 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_001379180.1(ESRRB):c.1360G>C (p.Val454Leu) rs546495818 0.00013
NM_001384474.1(LOXHD1):c.5390A>G (p.Lys1797Arg) rs368286192 0.00013
NM_001737.5(C9):c.355T>G (p.Cys119Gly) rs121909593 0.00013
NM_001851.6(COL9A1):c.876+2T>A rs149830493 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_007374.3(SIX6):c.473A>C (p.Lys158Thr) rs749617848 0.00013
NM_014672.4(PRORP):c.1261C>T (p.Arg421Cys) rs147065101 0.00013
NM_017819.4(TRMT10C):c.542G>T (p.Arg181Leu) rs199730889 0.00013
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter) rs201599657 0.00013
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00013
NM_144991.3(TSPEAR):c.1877T>C (p.Phe626Ser) rs369010851 0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs) rs541915908 0.00013
NM_182961.4(SYNE1):c.226-2dup rs774388631 0.00013
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe) rs111033330 0.00013
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_000195.5(HPS1):c.1846G>A (p.Glu616Lys) rs775570414 0.00012
NM_000329.3(RPE65):c.433G>A (p.Ala145Thr) rs767528365 0.00012
NM_000348.4(SRD5A2):c.151G>A (p.Ala51Thr) rs61748123 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000787.4(DBH):c.1033G>A (p.Asp345Asn) rs267606761 0.00012
NM_001033855.3(DCLRE1C):c.1990C>T (p.Arg664Ter) rs200693133 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001330691.3(CEP78):c.491G>A (p.Gly164Asp) rs200752089 0.00012
NM_003122.5(SPINK1):c.-191-24G>A rs191068215 0.00012
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966 0.00012
NM_005373.3(MPL):c.391+5G>C rs752453717 0.00012
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter) rs200311463 0.00012
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_012452.3(TNFRSF13B):c.512T>G (p.Leu171Arg) rs143027621 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys) rs121908487 0.00012
NM_015506.3(MMACHC):c.364C>A (p.His122Asn) rs372918203 0.00012
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp) rs374963946 0.00012
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu) rs200088377 0.00012
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772 0.00012
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00012
NM_144991.3(TSPEAR):c.1528C>T (p.Arg510Ter) rs201663789 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp) rs774030578 0.00011
NM_000053.4(ATP7B):c.3G>A (p.Met1Ile) rs750530407 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000275.3(OCA2):c.1901T>A (p.Ile634Asn) rs200692258 0.00011
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000350.3(ABCA4):c.1522C>T (p.Arg508Cys) rs138157885 0.00011
NM_000406.3(GNRHR):c.281T>C (p.Val94Ala) rs367560743 0.00011
NM_000435.3(NOTCH3):c.3664T>G (p.Cys1222Gly) rs199638166 0.00011
NM_000487.6(ARSA):c.434G>A (p.Arg145Gln) rs551548107 0.00011
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln) rs397508137 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345 0.00011
NM_000494.4(COL17A1):c.415+2T>G rs147734242 0.00011
NM_000539.3(RHO):c.578C>T (p.Thr193Met) rs373974298 0.00011
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met) rs193922879 0.00011
NM_000540.3(RYR1):c.2366G>A (p.Arg789Gln) rs200069592 0.00011
NM_000666.3(ACY1):c.480_493dup (p.His165fs) rs769746453 0.00011
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His) rs568165874 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) rs377025174 0.00011
NM_001354930.2(RIPK1):c.1934C>T (p.Thr645Met) rs116040763 0.00011
NM_001363711.2(DUOX2):c.2922-14_2925del rs760031457 0.00011
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) rs759003928 0.00011
NM_001369.3(DNAH5):c.7502G>C (p.Arg2501Pro) rs78853309 0.00011
NM_001378030.1(CCDC78):c.811C>T (p.Arg271Trp) rs200865845 0.00011
NM_001378789.1(CERS3):c.1027G>A (p.Glu343Lys) rs145849861 0.00011
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002693.3(POLG):c.2857C>T (p.Arg953Cys) rs11546842 0.00011
NM_003052.5(SLC34A1):c.1223T>A (p.Val408Glu) rs140649226 0.00011
NM_003119.4(SPG7):c.1586C>T (p.Ala529Val) rs748600162 0.00011
NM_003322.6(TULP1):c.1496-6C>A rs281865171 0.00011
NM_003865.3(HESX1):c.326G>A (p.Arg109Gln) rs768165720 0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys) rs143177272 0.00011
NM_005908.4(MANBA):c.1913G>A (p.Arg638His) rs781584789 0.00011
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu) rs121918342 0.00011
NM_006017.3(PROM1):c.2490-2A>G rs375813885 0.00011
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile) rs369950120 0.00011
NM_012275.3(IL36RN):c.227C>T (p.Pro76Leu) rs139497891 0.00011
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_015466.4(PTPN23):c.3748G>A (p.Glu1250Lys) rs148689441 0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_016239.4(MYO15A):c.6580C>T (p.Arg2194Trp) rs773551819 0.00011
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632 0.00011
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00011
NM_020442.6(VARS2):c.2584G>A (p.Glu862Lys) rs200019717 0.00011
NM_020632.3(ATP6V0A4):c.1029+5G>A rs147476317 0.00011
NM_020702.5(MYORG):c.1634G>A (p.Gly545Asp) rs199770930 0.00011
NM_022041.4(GAN):c.944C>T (p.Pro315Leu) rs144486241 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_182760.4(SUMF1):c.776A>T (p.Asn259Ile) rs764215221 0.00011
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln) rs368404711 0.00010
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp) rs139185976 0.00010
NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp) rs397516426 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000540.3(RYR1):c.7261G>T (p.Ala2421Ser) rs193922808 0.00010
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu) rs375761361 0.00010
NM_001130144.3(LTBP3):c.1550C>T (p.Pro517Leu) rs145001056 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001254.4(CDC6):c.597C>G (p.Tyr199Ter) rs200468440 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001278716.2(FBXL4):c.1126G>A (p.Glu376Lys) rs745512025 0.00010
NM_001292063.2(OTOG):c.4984G>T (p.Gly1662Ter) rs1407028917 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001363711.2(DUOX2):c.2597T>G (p.Met866Arg) rs200948626 0.00010
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp) rs56345590 0.00010
NM_001386393.1(PANK2):c.1379C>T (p.Pro460Leu) rs41279408 0.00010
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln) rs191391414 0.00010
NM_002225.5(IVD):c.707C>T (p.Thr236Ile) rs146861563 0.00010
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) rs200702528 0.00010
NM_003190.5(TAPBP):c.619C>T (p.Arg207Ter) rs767195857 0.00010
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_005327.7(HADH):c.676T>C (p.Tyr226His) rs146036912 0.00010
NM_005560.6(LAMA5):c.6301G>A (p.Glu2101Lys) rs370433088 0.00010
NM_013251.4(TAC3):c.248A>G (p.His83Arg) rs143862988 0.00010
NM_014014.5(SNRNP200):c.1792C>T (p.Arg598Cys) rs367922991 0.00010
NM_014270.5(SLC7A9):c.419T>C (p.Phe140Ser) rs752881588 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_017802.4(DNAAF5):c.1499G>T (p.Cys500Phe) rs144405450 0.00010
NM_017999.5(RNF31):c.2480G>A (p.Arg827His) rs377035972 0.00010
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter) rs138884194 0.00010
NM_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_033380.3(COL4A5):c.899C>T (p.Pro300Leu) rs375377003 0.00010
NM_144773.4(PROKR2):c.868C>T (p.Pro290Ser) rs149992595 0.00010
NM_145886.4(PIDD1):c.2042-2A>G rs199752248 0.00010
NM_152443.3(RDH12):c.701G>A (p.Arg234His) rs750636662 0.00010
NM_206965.2(FTCD):c.1291del (p.Glu431fs) rs775788856 0.00010
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_000017.4(ACADS):c.989G>A (p.Arg330His) rs199633532 0.00009
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810 0.00009
NM_000047.3(ARSL):c.410G>C (p.Gly137Ala) rs80338711 0.00009
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser) rs762866453 0.00009
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000070.3(CAPN3):c.2311G>A (p.Ala771Thr) rs886043191 0.00009
NM_000138.5(FBN1):c.7660C>T (p.Arg2554Trp) rs369294972 0.00009
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_000170.3(GLDC):c.2607C>A (p.Pro869=) rs386833565 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000271.5(NPC1):c.3559G>A (p.Ala1187Thr) rs762517273 0.00009
NM_000275.3(OCA2):c.2425T>A (p.Phe809Ile) rs765779905 0.00009
NM_000329.3(RPE65):c.242G>T (p.Arg81Ile) rs1429137932 0.00009
NM_000341.4(SLC3A1):c.1799G>A (p.Gly600Glu) rs141944551 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000414.4(HSD17B4):c.1767G>T (p.Lys589Asn) rs142527052 0.00009
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888 0.00009
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys) rs183911558 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001083961.2(WDR62):c.1043+3A>G rs587784541 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln) rs139484231 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001378609.3(OTOGL):c.236-2A>G rs766564988 0.00009
NM_001486.4(GCKR):c.151C>T (p.Arg51Ter) rs375836361 0.00009
NM_001558.4(IL10RA):c.170A>G (p.Tyr57Cys) rs201643277 0.00009
NM_002582.4(PARN):c.272A>G (p.Tyr91Cys) rs201765587 0.00009
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805 0.00009
NM_002860.4(ALDH18A1):c.1273C>T (p.Arg425Cys) rs762742204 0.00009
NM_003060.4(SLC22A5):c.728A>C (p.Tyr243Ser) rs1321621475 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys) rs201777056 0.00009
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp) rs371672410 0.00009
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln) rs373190458 0.00009
NM_005609.4(PYGM):c.425-26A>G rs764313717 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met) rs371709824 0.00009
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser) rs930347206 0.00009
NM_015072.5(TTLL5):c.1513A>G (p.Met505Val) rs781316021 0.00009
NM_015466.4(PTPN23):c.695G>A (p.Arg232Gln) rs577689618 0.00009
NM_016038.4(SBDS):c.388G>A (p.Val130Met) rs201070132 0.00009
NM_016111.4(TELO2):c.2312T>C (p.Leu771Ser) rs201230315 0.00009
NM_017433.5(MYO3A):c.315del (p.Gly106fs) rs777580042 0.00009
NM_020117.11(LARS1):c.2770-2A>G rs139456270 0.00009
NM_022124.6(CDH23):c.2866G>A (p.Glu956Lys) rs756147087 0.00009
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_024516.4(PAGR1):c.274A>G (p.Ser92Gly) rs375215655 0.00009
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro) rs372174278 0.00009
NM_052989.3(IFT122):c.565C>T (p.Arg189Ter) rs138329739 0.00009
NM_054012.4(ASS1):c.1003C>T (p.Arg335Cys) rs373514077 0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_054012.4(ASS1):c.919C>T (p.Arg307Cys) rs183276875 0.00009
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_181882.3(PRX):c.2463C>T (p.Gly821=) rs368481955 0.00009
NM_206933.4(USH2A):c.12332C>T (p.Ser4111Phe) rs142095945 0.00009
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00009
NM_000048.4(ASL):c.571C>T (p.Arg191Trp) rs143508372 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000260.4(MYO7A):c.3689G>A (p.Arg1230His) rs368705036 0.00008
NM_000285.4(PEPD):c.1244T>A (p.Ile415Asn) rs575962845 0.00008
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr) rs137854609 0.00008
NM_000350.3(ABCA4):c.4909G>A (p.Ala1637Thr) rs61754056 0.00008
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn) rs145966505 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001077365.2(POMT1):c.752C>T (p.Pro251Leu) rs139660235 0.00008
NM_001126108.2(SLC12A3):c.1216A>C (p.Asn406His) rs759532318 0.00008
NM_001232.4(CASQ2):c.748C>T (p.Arg250Cys) rs151115064 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001287491.2(TET3):c.2254C>T (p.Arg752Cys) rs534089911 0.00008
NM_001292063.2(OTOG):c.8541+5G>A rs754883697 0.00008
NM_001369.3(DNAH5):c.8828G>A (p.Arg2943His) rs184758570 0.00008
NM_001384474.1(LOXHD1):c.2863G>C (p.Glu955Gln) rs548893604 0.00008
NM_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met) rs369043488 0.00008
NM_001384474.1(LOXHD1):c.6363C>A (p.Cys2121Ter) rs754765193 0.00008
NM_001793.6(CDH3):c.2395G>A (p.Ala799Thr) rs144117679 0.00008
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu) rs375935084 0.00008
NM_003052.5(SLC34A1):c.937-2A>C rs754825865 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004525.3(LRP2):c.5120C>T (p.Ser1707Phe) rs745788682 0.00008
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) rs542768500 0.00008
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser) rs201042910 0.00008
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu) rs13447331 0.00008
NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter) rs118031911 0.00008
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys) rs200129338 0.00008
NM_007103.4(NDUFV1):c.1312C>A (p.Leu438Met) rs1127511 0.00008
NM_014639.4(SKIC3):c.642+1G>A rs538894487 0.00008
NM_015466.4(PTPN23):c.1748A>G (p.Lys583Arg) rs147293860 0.00008
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_016239.4(MYO15A):c.6302T>C (p.Leu2101Pro) rs201908493 0.00008
NM_018116.4(MSTO1):c.836G>A (p.Arg279His) rs563943670 0.00008
NM_020461.4(TUBGCP6):c.5263_5273dup (p.Arg1763fs) rs775659848 0.00008
NM_020937.4(FANCM):c.4318-1G>A rs752228025 0.00008
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_024700.4(SNIP1):c.1097A>G (p.Glu366Gly) rs387906986 0.00008
NM_032520.5(GNPTG):c.238_243del (p.Lys80_Tyr81del) rs773452586 0.00008
NM_032520.5(GNPTG):c.758C>A (p.Ser253Ter) rs761299690 0.00008
NM_033109.5(PNPT1):c.1592C>G (p.Thr531Arg) rs374698153 0.00008
NM_054012.4(ASS1):c.773C>T (p.Ala258Val) rs753078725 0.00008
NM_139076.3(ABRAXAS1):c.1082G>A (p.Arg361Gln) rs201627097 0.00008
NM_144991.3(TSPEAR):c.1247A>C (p.Tyr416Ser) rs781913166 0.00008
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg) rs368570508 0.00008
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524 0.00008
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp) rs146525143 0.00007
NM_000046.5(ARSB):c.667A>G (p.Ile223Val) rs367650121 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser) rs375690568 0.00007
NM_000159.4(GCDH):c.1147C>T (p.Arg383Cys) rs150938052 0.00007
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr) rs769419740 0.00007
NM_000243.3(MEFV):c.1958G>A (p.Arg653His) rs104895085 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000260.4(MYO7A):c.287C>T (p.Thr96Met) rs781811444 0.00007
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) rs104894030 0.00007
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser) rs145952475 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000384.3(APOB):c.9491C>T (p.Thr3164Met) rs143269114 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000479.5(AMH):c.905G>A (p.Arg302Gln) rs536688211 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000518.5(HBB):c.389C>T (p.Ala130Val) rs111645889 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001080.3(ALDH5A1):c.764A>G (p.Asn255Ser) rs145087265 0.00007
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu) rs202153130 0.00007
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00007
NM_001126108.2(SLC12A3):c.422G>C (p.Gly141Ala) rs146854174 0.00007
NM_001142800.2(EYS):c.7811G>A (p.Arg2604His) rs368798160 0.00007
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro) rs771487311 0.00007
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser) rs201101621 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00007
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_003060.4(SLC22A5):c.761G>A (p.Arg254Gln) rs200699819 0.00007
NM_003104.6(SORD):c.1021G>T (p.Gly341Ter) rs750210485 0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081 0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) rs201870277 0.00007
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr) rs281875318 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) rs377669670 0.00007
NM_015102.5(NPHP4):c.3160C>T (p.Arg1054Cys) rs373369949 0.00007
NM_015559.3(SETBP1):c.487-1G>A rs147805077 0.00007
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_018668.5(VPS33B):c.403G>A (p.Asp135Asn) rs369726600 0.00007
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_030962.4(SBF2):c.3866G>A (p.Arg1289Gln) rs757836523 0.00007
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_032383.5(HPS3):c.2888-1612G>A rs281865096 0.00007
NM_032607.3(CREB3L3):c.27+2T>C rs141354235 0.00007
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953 0.00007
NM_052845.4(MMAB):c.521C>T (p.Ser174Leu) rs140881518 0.00007
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly) rs116802390 0.00007
NM_174889.5(NDUFAF2):c.131A>C (p.Gln44Pro) rs775605330 0.00007
NM_198076.6(COX20):c.92G>A (p.Arg31Gln) rs764620077 0.00007
NM_206933.4(USH2A):c.6929C>T (p.Thr2310Met) rs151057466 0.00007
NM_000017.4(ACADS):c.1192C>T (p.Gln398Ter) rs767774362 0.00006
NM_000017.4(ACADS):c.575C>T (p.Ala192Val) rs28940874 0.00006
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys) rs539219309 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn) rs180177180 0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000047.3(ARSL):c.1163G>A (p.Arg388His) rs754500316 0.00006
NM_000053.4(ATP7B):c.-676A>G rs1021025464 0.00006
NM_000053.4(ATP7B):c.2479C>T (p.Arg827Trp) rs539585071 0.00006
NM_000053.4(ATP7B):c.2978C>T (p.Thr993Met) rs200290721 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000079.4(CHRNA1):c.280G>T (p.Gly94Cys) rs199470444 0.00006
NM_000083.3(CLCN1):c.1222C>G (p.Pro408Ala) rs202019723 0.00006
NM_000083.3(CLCN1):c.1606G>A (p.Val536Ile) rs777685454 0.00006
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln) rs727502811 0.00006
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=) rs149797103 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln) rs374687883 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000158.4(GBE1):c.555+1G>T rs759707498 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000183.3(HADHB):c.397A>G (p.Thr133Ala) rs371159065 0.00006
NM_000183.3(HADHB):c.712C>T (p.Arg238Trp) rs764006338 0.00006
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) rs118204095 0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro) rs752337969 0.00006
NM_000204.5(CFI):c.148C>G (p.Pro50Ala) rs144082872 0.00006
NM_000260.4(MYO7A):c.4450C>T (p.Leu1484Phe) rs200416912 0.00006
NM_000260.4(MYO7A):c.5618G>A (p.Arg1873Gln) rs397516322 0.00006
NM_000260.4(MYO7A):c.652G>A (p.Asp218Asn) rs201539845 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00006
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys) rs374156343 0.00006
NM_000288.4(PEX7):c.340-10A>G rs267608255 0.00006
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr) rs368582085 0.00006
NM_000322.5(PRPH2):c.923T>A (p.Leu308Gln) rs762660751 0.00006
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266 0.00006
NM_000359.3(TGM1):c.376C>T (p.Arg126Cys) rs397514524 0.00006
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00006
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln) rs780634117 0.00006
NM_000414.4(HSD17B4):c.58+190T>A rs1001866915 0.00006
NM_000428.3(LTBP2):c.4699A>G (p.Met1567Val) rs137854864 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met) rs370029782 0.00006
NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile) rs397516421 0.00006
NM_000441.2(SLC26A4):c.920C>T (p.Thr307Met) rs144691257 0.00006
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln) rs372685632 0.00006
NM_000478.6(ALPL):c.371A>G (p.Asn124Ser) rs11586344 0.00006
NM_000492.4(CFTR):c.2856G>C (p.Met952Ile) rs151048781 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.571T>G (p.Phe191Val) rs141482808 0.00006
NM_000497.4(CYP11B1):c.799+5G>C rs193922542 0.00006
NM_000520.6(HEXA):c.806-7G>A rs770932296 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.233G>A (p.Arg78His) rs146675823 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp) rs587784379 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_000550.3(TYRP1):c.415G>A (p.Glu139Lys) rs201789348 0.00006
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558 0.00006
NM_001002294.3(FMO3):c.929C>T (p.Ser310Leu) rs572292275 0.00006
NM_001010867.4(IBA57):c.679+3A>G rs754620334 0.00006
NM_001031727.4(MRI1):c.629G>A (p.Arg210Gln) rs141094096 0.00006
NM_001048174.2(MUTYH):c.461G>T (p.Arg154Leu) rs143353451 0.00006
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp) rs149988492 0.00006
NM_001077365.2(POMT1):c.197C>T (p.Pro66Leu) rs757903559 0.00006
NM_001083961.2(WDR62):c.1480G>A (p.Gly494Arg) rs587784543 0.00006
NM_001126108.2(SLC12A3):c.1145C>T (p.Thr382Met) rs187885782 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127701.1(SERPINA1):c.326C>T (p.Thr109Met) rs199422213 0.00006
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318 0.00006
NM_001142800.2(EYS):c.35T>C (p.Met12Thr) rs755947942 0.00006
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala) rs772888249 0.00006
NM_001164508.2(NEB):c.23742+2T>C rs545937015 0.00006
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) rs374434303 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_001256545.2(MEGF10):c.2857-2A>G rs199750143 0.00006
NM_001267550.2(TTN):c.106468T>C (p.Tyr35490His) rs199663911 0.00006
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn) rs576904726 0.00006
NM_001267550.2(TTN):c.35890C>T (p.Arg11964Ter) rs1266298136 0.00006
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001282225.2(ADA2):c.562C>G (p.Leu188Val) rs765219776 0.00006
NM_001298.3(CNGA3):c.1982G>A (p.Arg661His) rs144715956 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_001358530.2(MOCS1):c.484C>T (p.Arg162Trp) rs746138504 0.00006
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala) rs200334114 0.00006
NM_001360.3(DHCR7):c.92G>A (p.Arg31His) rs370307688 0.00006
NM_001363711.2(DUOX2):c.505C>T (p.Arg169Trp) rs201590426 0.00006
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter) rs369755459 0.00006
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377265.1(MAPT):c.2263G>A (p.Val755Ile) rs63750869 0.00006
NM_001379270.1(CNGA1):c.503T>G (p.Ile168Ser) rs373448145 0.00006
NM_001414.4(EIF2B1):c.252+1G>A rs113994006 0.00006
NM_001701.4(BAAT):c.761C>T (p.Thr254Met) rs768526453 0.00006
NM_001848.3(COL6A1):c.717+4A>G rs762867111 0.00006
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_002047.4(GARS1):c.1852G>A (p.Val618Ile) rs369894731 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_002693.3(POLG):c.868C>T (p.Arg290Cys) rs753416225 0.00006
NM_003049.4(SLC10A1):c.664_665del (p.Leu222fs) rs765246704 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003504.5(CDC45):c.1660C>T (p.Arg554Trp) rs778665661 0.00006
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr) rs141045127 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004134.7(HSPA9):c.882_883del (p.Gly295_Val296insTer) rs772570880 0.00006
NM_004369.4(COL6A3):c.2306C>T (p.Ala769Val) rs753966526 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_004959.5(NR5A1):c.712G>A (p.Asp238Asn) rs780568525 0.00006
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871 0.00006
NM_005529.7(HSPG2):c.12353C>T (p.Thr4118Met) rs200150908 0.00006
NM_005908.4(MANBA):c.1922G>A (p.Arg641His) rs569997475 0.00006
NM_005993.5(TBCD):c.2701C>T (p.Arg901Cys) rs778041055 0.00006
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) rs146670741 0.00006
NM_006005.3(WFS1):c.977C>T (p.Ala326Val) rs369795224 0.00006
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00006
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006996.3(SLC19A2):c.1063A>C (p.Lys355Gln) rs200879349 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_014026.6(DCPS):c.947C>T (p.Thr316Met) rs137941190 0.00006
NM_014053.4(FLVCR1):c.1022A>G (p.Tyr341Cys) rs200151282 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_014141.6(CNTNAP2):c.3716-2A>G rs746894028 0.00006
NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val) rs140873167 0.00006
NM_014285.7(EXOSC2):c.89G>T (p.Gly30Val) rs537467155 0.00006
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036 0.00006
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_014855.3(AP5Z1):c.1132G>A (p.Gly378Arg) rs777093701 0.00006
NM_015272.5(RPGRIP1L):c.3446T>A (p.Ile1149Asn) rs766943204 0.00006
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter) rs149830411 0.00006
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter) rs201183360 0.00006
NM_015910.7(WDPCP):c.209-1G>A rs767481770 0.00006
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp) rs187225056 0.00006
NM_016180.5(SLC45A2):c.1082T>C (p.Leu361Pro) rs121912619 0.00006
NM_016222.4(DDX41):c.1016G>A (p.Arg339His) rs774698335 0.00006
NM_016239.4(MYO15A):c.4769A>G (p.Tyr1590Cys) rs191828237 0.00006
NM_016239.4(MYO15A):c.5893C>T (p.Arg1965Cys) rs374485649 0.00006
NM_016589.4(TIMMDC1):c.410G>A (p.Arg137His) rs142096113 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp) rs121908824 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys) rs747229909 0.00006
NM_018006.5(TRMU):c.82+5G>C rs771076163 0.00006
NM_018109.4(MTPAP):c.1484T>G (p.Leu495Arg) rs1356166646 0.00006
NM_018122.5(DARS2):c.396+2T>G rs759123043 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_022168.4(IFIH1):c.2317G>T (p.Glu773Ter) rs201472224 0.00006
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln) rs137852990 0.00006
NM_022552.5(DNMT3A):c.1903C>T (p.Arg635Trp) rs144689354 0.00006
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024753.5(TTC21B):c.2693G>A (p.Arg898Gln) rs574017249 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_030773.4(TUBB1):c.35del (p.Cys12fs) rs773248042 0.00006
NM_032178.3(SLC7A6OS):c.191A>G (p.Gln64Arg) rs190706099 0.00006
NM_033028.5(BBS4):c.1440dup (p.Leu481fs) rs780269741 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_058216.3(RAD51C):c.428A>G (p.Gln143Arg) rs587780255 0.00006
NM_138691.3(TMC1):c.1114G>A (p.Val372Met) rs367924428 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His) rs576243101 0.00006
NM_144991.3(TSPEAR):c.1423G>A (p.Gly475Ser) rs782056388 0.00006
NM_148897.3(SDR9C7):c.112G>A (p.Gly38Arg) rs764593071 0.00006
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser) rs367579275 0.00006
NM_152783.5(D2HGDH):c.1243G>A (p.Val415Met) rs371794611 0.00006
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln) rs138592977 0.00006
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro) rs74315398 0.00006
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_177924.5(ASAH1):c.997C>G (p.Arg333Gly) rs543697946 0.00006
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00006
NM_181507.2(HPS5):c.285-10A>G rs200449378 0.00006
NM_181789.4(GLDN):c.1178G>A (p.Arg393Lys) rs147954907 0.00006
NM_182548.4(LHFPL5):c.472C>T (p.Arg158Trp) rs753739358 0.00006
NM_183050.4(BCKDHB):c.509G>A (p.Arg170His) rs371518124 0.00006
NM_198076.6(COX20):c.197T>G (p.Phe66Cys) rs147700538 0.00006
NM_206933.4(USH2A):c.10999A>C (p.Thr3667Pro) rs150822759 0.00006
NM_206933.4(USH2A):c.11156G>A (p.Arg3719His) rs527236139 0.00006
NM_206933.4(USH2A):c.14219C>A (p.Ala4740Asp) rs539192853 0.00006
NM_206933.4(USH2A):c.1A>G (p.Met1Val) rs924627806 0.00006
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp) rs201527662 0.00006
NM_206933.4(USH2A):c.7475C>T (p.Ser2492Leu) rs483353056 0.00006
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr) rs121912599 0.00006
NM_213599.3(ANO5):c.749A>G (p.Tyr250Cys) rs781734224 0.00006
NM_000017.4(ACADS):c.1157G>A (p.Arg386His) rs766183395 0.00005
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly) rs201101343 0.00005
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827 0.00005
NM_000055.4(BCHE):c.166T>A (p.Phe56Ile) rs531738678 0.00005
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000092.5(COL4A4):c.1334G>C (p.Gly445Ala) rs548019779 0.00005
NM_000094.4(COL7A1):c.6005G>A (p.Arg2002His) rs768326843 0.00005
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln) rs372254398 0.00005
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr) rs144155165 0.00005
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000175.5(GPI):c.671C>T (p.Thr224Met) rs61754634 0.00005
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp) rs140686447 0.00005
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp) rs781834630 0.00005
NM_000260.4(MYO7A):c.4040G>A (p.Arg1347His) rs756324342 0.00005
NM_000271.5(NPC1):c.2903A>G (p.Asn968Ser) rs773767253 0.00005
NM_000277.3(PAH):c.350C>T (p.Thr117Ile) rs281865439 0.00005
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly) rs140014925 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu) rs386833646 0.00005
NM_000350.3(ABCA4):c.1715G>A (p.Arg572Gln) rs61748559 0.00005
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg) rs568792949 0.00005
NM_000372.5(TYR):c.1063G>C (p.Ala355Pro) rs62645908 0.00005
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241 0.00005
NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val) rs111033242 0.00005
NM_000486.6(AQP2):c.782C>T (p.Ser261Leu) rs376000406 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3409A>G (p.Met1137Val) rs397508553 0.00005
NM_000532.5(PCCB):c.1127G>A (p.Arg376His) rs142982097 0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly) rs367543058 0.00005
NM_000540.3(RYR1):c.14344G>A (p.Gly4782Arg) rs746538672 0.00005
NM_000540.3(RYR1):c.325C>T (p.Arg109Trp) rs118192173 0.00005
NM_000540.3(RYR1):c.6418C>T (p.Arg2140Trp) rs750275456 0.00005
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_000785.4(CYP27B1):c.1358G>A (p.Arg453His) rs759208930 0.00005
NM_000925.4(PDHB):c.426A>G (p.Ile142Met) rs151247980 0.00005
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001077350.3(NPRL3):c.1162-2A>G rs756257487 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_001101426.4(CRPPA):c.277_279del (p.Ile93del) rs397515398 0.00005
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val) rs748538823 0.00005
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys) rs121434272 0.00005
NM_001127178.3(PIGG):c.2180G>A (p.Gly727Glu) rs201842856 0.00005
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177 0.00005
NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro) rs777735735 0.00005
NM_001142800.2(EYS):c.6571+5G>A rs991580368 0.00005
NM_001164508.2(NEB):c.23510C>T (p.Thr7837Met) rs370108917 0.00005
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His) rs397516484 0.00005
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001298.3(CNGA3):c.1117G>A (p.Val373Met) rs552553452 0.00005
NM_001365536.1(SCN9A):c.902-2A>C rs773824421 0.00005
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys) rs369102875 0.00005
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_001457.4(FLNB):c.572C>T (p.Pro191Leu) rs368472521 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_002206.3(ITGA7):c.2357+1G>A rs200402328 0.00005
NM_002292.4(LAMB2):c.3797+5G>A rs150213016 0.00005
NM_002317.7(LOX):c.1190G>A (p.Arg397His) rs749796906 0.00005
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp) rs373118250 0.00005
NM_003052.5(SLC34A1):c.644G>A (p.Arg215Gln) rs1163121743 0.00005
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys) rs121909066 0.00005
NM_003919.3(SGCE):c.21G>A (p.Trp7Ter) rs201378067 0.00005
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_005548.3(KARS1):c.85G>C (p.Ala29Pro) rs369238198 0.00005
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp) rs549442687 0.00005
NM_007103.4(NDUFV1):c.1070T>C (p.Met357Thr) rs777692271 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_012144.4(DNAI1):c.1490G>A (p.Gly497Asp) rs376252276 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_015570.4(AUTS2):c.1717C>T (p.Pro573Ser) rs1051952947 0.00005
NM_017547.4(FOXRED1):c.1051C>T (p.Arg351Cys) rs544236849 0.00005
NM_018116.4(MSTO1):c.22G>A (p.Val8Met) rs762798018 0.00005
NM_019098.5(CNGB3):c.467C>T (p.Ser156Phe) rs139207764 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp) rs373971613 0.00005
NM_021615.5(CHST6):c.6G>A (p.Trp2Ter) rs753928736 0.00005
NM_021930.6(RINT1):c.1333+1G>A rs375350359 0.00005
NM_022098.4(XPNPEP3):c.856-2A>G rs149609214 0.00005
NM_022132.5(MCCC2):c.384-20A>G rs770917710 0.00005
NM_024596.5(MCPH1):c.1974-2A>G rs541042265 0.00005
NM_024678.6(NARS2):c.167A>G (p.Gln56Arg) rs201751992 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_032756.4(HPDL):c.469T>C (p.Trp157Arg) rs567130416 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_052845.4(MMAB):c.562G>A (p.Val188Met) rs768176676 0.00005
NM_054012.4(ASS1):c.911G>A (p.Arg304Gln) rs771640767 0.00005
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys) rs367741588 0.00005
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261 0.00005
NM_144672.4(OTOA):c.1562T>C (p.Phe521Ser) rs145044236 0.00005
NM_152268.4(PARS2):c.283G>A (p.Val95Ile) rs147227819 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr) rs764078087 0.00005
NM_176869.3(PPA2):c.476C>T (p.Thr159Met) rs752062224 0.00005
NM_213599.3(ANO5):c.1924C>G (p.Arg642Gly) rs146341538 0.00005
NM_213655.5(WNK1):c.2152C>T (p.Arg718Cys) rs786205473 0.00005
NC_000016.10:g.67660342del rs753666055 0.00004
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000016.6(ACADM):c.388-3T>G rs764942250 0.00004
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000016.6(ACADM):c.50G>A (p.Arg17His) rs17848070 0.00004
NM_000017.4(ACADS):c.417G>C (p.Trp139Cys) rs149107232 0.00004
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000018.4(ACADVL):c.866G>A (p.Gly289Glu) rs778514103 0.00004
NM_000019.4(ACAT1):c.623G>A (p.Arg208Gln) rs370720208 0.00004
NM_000026.4(ADSL):c.886C>T (p.Arg296Trp) rs536254357 0.00004
NM_000030.3(AGXT):c.484G>A (p.Val162Met) rs147497484 0.00004
NM_000031.6(ALAD):c.36C>G (p.Phe12Leu) rs121912984 0.00004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126 0.00004
NM_000046.5(ARSB):c.1178A>C (p.His393Pro) rs118203944 0.00004
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144 0.00004
NM_000053.4(ATP7B):c.3473G>T (p.Gly1158Val) rs770428835 0.00004
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318 0.00004
NM_000053.4(ATP7B):c.503T>C (p.Leu168Pro) rs756237962 0.00004
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978 0.00004
NM_000063.6(C2):c.1360+1G>A rs140225293 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile) rs148393161 0.00004
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg) rs755714542 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg) rs569681869 0.00004
NM_000092.5(COL4A4):c.3743G>A (p.Gly1248Glu) rs548799639 0.00004
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp) rs533297350 0.00004
NM_000094.4(COL7A1):c.5097G>A (p.Pro1699=) rs369034739 0.00004
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His) rs138626345 0.00004
NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp) rs186044004 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu) rs757275923 0.00004
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu) rs72549304 0.00004
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr) rs777425216 0.00004
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu) rs367619008 0.00004
NM_000110.4(DPYD):c.703C>T (p.Arg235Trp) rs1801266 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser) rs754967473 0.00004
NM_000155.4(GALT):c.1006A>T (p.Met336Leu) rs111033810 0.00004
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly) rs1057942 0.00004
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys) rs772802187 0.00004
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala) rs770427750 0.00004
NM_000183.3(HADHB):c.1115A>T (p.Asp372Val) rs374840025 0.00004
NM_000187.4(HGD):c.347T>C (p.Leu116Pro) rs569846003 0.00004
NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val) rs142236065 0.00004
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys) rs766938111 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His) rs371029653 0.00004
NM_000260.4(MYO7A):c.6326C>T (p.Thr2109Ile) rs377670513 0.00004
NM_000275.3(OCA2):c.1183A>C (p.Met395Leu) rs757286784 0.00004
NM_000277.3(PAH):c.1237C>T (p.Arg413Cys) rs62644467 0.00004
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly) rs1169861687 0.00004
NM_000287.4(PEX6):c.2663G>A (p.Arg888His) rs267608247 0.00004
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677 0.00004
NM_000298.6(PKLR):c.1075C>T (p.Arg359Cys) rs138871700 0.00004
NM_000312.4(PROC):c.127G>A (p.Ala43Thr) rs767626189 0.00004
NM_000317.3(PTS):c.164-672C>T rs1030849527 0.00004
NM_000322.5(PRPH2):c.271T>A (p.Tyr91Asn) rs747893076 0.00004
NM_000335.5(SCN5A):c.3905G>A (p.Arg1302Gln) rs977717858 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000335.5(SCN5A):c.739G>C (p.Val247Leu) rs199473078 0.00004
NM_000341.4(SLC3A1):c.1796T>C (p.Phe599Ser) rs146963107 0.00004
NM_000350.3(ABCA4):c.5114G>A (p.Arg1705Gln) rs61753021 0.00004
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn) rs67767715 0.00004
NM_000359.3(TGM1):c.1631A>G (p.Tyr544Cys) rs1044429462 0.00004
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp) rs760978512 0.00004
NM_000372.5(TYR):c.1264C>T (p.Arg422Trp) rs749979474 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000383.4(AIRE):c.652+1G>T rs199612115 0.00004
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098 0.00004
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp) rs553122824 0.00004
NM_000400.4(ERCC2):c.1377+2T>C rs201505264 0.00004
NM_000400.4(ERCC2):c.1459C>T (p.Arg487Trp) rs562132292 0.00004
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) rs398123388 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000435.3(NOTCH3):c.2149C>T (p.Arg717Cys) rs144163298 0.00004
NM_000436.4(OXCT1):c.1099+2T>C rs202242762 0.00004
NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser) rs766206507 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000481.4(AMT):c.-55C>T rs386833677 0.00004
NM_000487.6(ARSA):c.1175G>A (p.Arg392Gln) rs199476391 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.3874-4522A>G rs895394181 0.00004
NM_000492.4(CFTR):c.794T>G (p.Met265Arg) rs148519623 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His) rs1351045983 0.00004
NM_000501.4(ELN):c.164-2A>C rs782096458 0.00004
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_000532.5(PCCB):c.1229G>A (p.Arg410Gln) rs778742647 0.00004
NM_000532.5(PCCB):c.1514T>C (p.Ile505Thr) rs1353542774 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000540.3(RYR1):c.11557G>A (p.Glu3853Lys) rs145087576 0.00004
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986 0.00004
NM_000540.3(RYR1):c.1250T>C (p.Leu417Pro) rs764262446 0.00004
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_000540.3(RYR1):c.4361C>T (p.Pro1454Leu) rs149737658 0.00004
NM_000540.3(RYR1):c.5340_5341del (p.Cys1781fs) rs779723153 0.00004
NM_000540.3(RYR1):c.6274+1G>A rs1226228092 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_000550.3(TYRP1):c.1534C>T (p.Gln512Ter) rs752358009 0.00004
NM_000551.4(VHL):c.562C>G (p.Leu188Val) rs5030824 0.00004
NM_000709.4(BCKDHA):c.349C>T (p.Arg117Cys) rs188135164 0.00004
NM_000709.4(BCKDHA):c.996-26A>G rs757986569 0.00004
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln) rs587778818 0.00004
NM_000939.4(POMC):c.433C>T (p.Arg145Cys) rs756412997 0.00004
NM_001001548.3(CD36):c.1254+1G>A rs148051111 0.00004
NM_001002294.3(FMO3):c.245T>C (p.Met82Thr) rs72549324 0.00004
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp) rs377381866 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_001031710.3(KLHL7):c.793+5G>C rs375718274 0.00004
NM_001034116.2(EIF2B4):c.1399C>T (p.Arg467Trp) rs138249238 0.00004
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly) rs564822776 0.00004
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile) rs386833744 0.00004
NM_001048174.2(MUTYH):c.752A>C (p.Asn251Thr) rs587778534 0.00004
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=) rs372673338 0.00004
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_001079866.2(BCS1L):c.269G>A (p.Arg90His) rs747956412 0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001083614.2(EARS2):c.667G>A (p.Asp223Asn) rs746087016 0.00004
NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu) rs567875341 0.00004
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr) rs369432845 0.00004
NM_001126108.2(SLC12A3):c.457G>A (p.Val153Met) rs779074538 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp) rs760443264 0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_001171.6(ABCC6):c.3704G>A (p.Arg1235Gln) rs138700741 0.00004
NM_001177316.2(SLC34A3):c.846G>A (p.Pro282=) rs121918236 0.00004
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys) rs561343926 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370 0.00004
NM_001243279.3(ACSF3):c.1721dup (p.His574fs) rs768886326 0.00004
NM_001243766.1(POMGNT1):c.794G>A (p.Arg265His) rs386834010 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001253852.3(AP4B1):c.1558C>T (p.Arg520Cys) rs200276550 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met) rs772040483 0.00004
NM_001267550.2(TTN):c.40409-1G>A rs1285884266 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001267550.2(TTN):c.98021G>A (p.Arg32674His) rs750969198 0.00004
NM_001271696.3(ABCB7):c.868G>A (p.Gly290Ser) rs1133577 0.00004
NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys) rs777021265 0.00004
NM_001298.3(CNGA3):c.1557G>A (p.Met519Ile) rs199655686 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001319074.4(RAX2):c.91C>T (p.Arg31Cys) rs200153795 0.00004
NM_001330078.2(NRXN1):c.772+1032G>A rs771759988 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val) rs367841692 0.00004
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001363711.2(DUOX2):c.1295G>A (p.Arg432His) rs530736554 0.00004
NM_001363711.2(DUOX2):c.3250C>T (p.Arg1084Ter) rs368975704 0.00004
NM_001363711.2(DUOX2):c.3632G>A (p.Arg1211His) rs141763307 0.00004
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560 0.00004
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs) rs756543273 0.00004
NM_001369.3(DNAH5):c.4116G>C (p.Gln1372His) rs139463637 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter) rs149808404 0.00004
NM_001371986.1(UNC80):c.4544C>T (p.Ala1515Val) rs750442854 0.00004
NM_001374675.1(HSF4):c.426_443dup (p.Ala145_Gln150dup) rs760351849 0.00004
NM_001377.3(DYNC2H1):c.10100G>A (p.Arg3367His) rs759549373 0.00004
NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln) rs761391585 0.00004
NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp) rs1350329646 0.00004
NM_001378615.1(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058 0.00004
NM_001379270.1(CNGA1):c.827G>A (p.Arg276His) rs375412499 0.00004
NM_001384474.1(LOXHD1):c.2245-13G>A rs749554659 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386393.1(PANK2):c.988C>T (p.Arg330Cys) rs201329683 0.00004
NM_001605.3(AARS1):c.2251A>G (p.Arg751Gly) rs143370729 0.00004
NM_001673.5(ASNS):c.1556G>A (p.Arg519His) rs568570377 0.00004
NM_001698.3(AUH):c.824C>T (p.Ala275Val) rs748318386 0.00004
NM_001845.6(COL4A1):c.2351C>T (p.Pro784Leu) rs372750171 0.00004
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe) rs796052407 0.00004
NM_001918.5(DBT):c.1018-550A>G rs796052135 0.00004
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser) rs150855952 0.00004
NM_002335.4(LRP5):c.1331G>A (p.Arg444His) rs761049544 0.00004
NM_002340.6(LSS):c.1054G>A (p.Gly352Arg) rs373046759 0.00004
NM_002437.5(MPV17):c.263A>T (p.Lys88Met) rs756530281 0.00004
NM_002439.5(MSH3):c.1341-1G>T rs61754780 0.00004
NM_002496.4(NDUFS8):c.305G>A (p.Arg102His) rs121912638 0.00004
NM_002582.4(PARN):c.692A>G (p.Glu231Gly) rs757910862 0.00004
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr) rs770438363 0.00004
NM_002693.3(POLG):c.428C>T (p.Ala143Val) rs796052899 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln) rs570278423 0.00004
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val) rs766548165 0.00004
NM_003049.4(SLC10A1):c.132C>A (p.Cys44Ter) rs200809908 0.00004
NM_003060.4(SLC22A5):c.1403C>A (p.Thr468Lys) rs386134221 0.00004
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042 0.00004
NM_003235.5(TG):c.6695C>T (p.Pro2232Leu) rs201514086 0.00004
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter) rs779070661 0.00004
NM_003801.4(GPAA1):c.149T>A (p.Met50Lys) rs200581623 0.00004
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp) rs770886420 0.00004
NM_004208.4(AIFM1):c.556A>G (p.Asn186Asp) rs765298573 0.00004
NM_004211.5(SLC6A5):c.1472A>G (p.Tyr491Cys) rs121908494 0.00004
NM_004268.5(MED17):c.1597C>T (p.Gln533Ter) rs752341132 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004369.4(COL6A3):c.8567+2dup rs776144262 0.00004
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004453.4(ETFDH):c.523C>T (p.Arg175Cys) rs762928354 0.00004
NM_004531.5(MOCS2):c.226G>A (p.Gly76Arg) rs780085174 0.00004
NM_004937.3(CTNS):c.635C>T (p.Ala212Val) rs776658046 0.00004
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057 0.00004
NM_005276.4(GPD1):c.398C>T (p.Ser133Leu) rs184522376 0.00004
NM_005327.7(HADH):c.907G>A (p.Gly303Ser) rs201772964 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005560.6(LAMA5):c.6148C>T (p.Arg2050Cys) rs377244239 0.00004
NM_005560.6(LAMA5):c.8674C>T (p.Arg2892Cys) rs375523467 0.00004
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser) rs752622662 0.00004
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln) rs150911354 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_005993.5(TBCD):c.2609+5G>A rs367596929 0.00004
NM_006005.3(WFS1):c.1949A>G (p.Tyr650Cys) rs765322804 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) rs753308387 0.00004
NM_006208.3(ENPP1):c.2376T>A (p.Asn792Lys) rs137853273 0.00004
NM_006269.2(RP1):c.121T>C (p.Tyr41His) rs746359399 0.00004
NM_006363.6(SEC23B):c.53G>A (p.Arg18His) rs905074313 0.00004
NM_006516.4(SLC2A1):c.653G>A (p.Arg218His) rs374080633 0.00004
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met) rs199586863 0.00004
NM_006922.4(SCN3A):c.295A>G (p.Ile99Val) rs200538599 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_012433.4(SF3B1):c.2098A>G (p.Lys700Glu) rs559063155 0.00004
NM_012472.6(DNAAF11):c.2T>A (p.Met1Lys) rs377278570 0.00004
NM_013339.4(ALG6):c.1A>G (p.Met1Val) rs562934427 0.00004
NM_014249.4(NR2E3):c.1025T>C (p.Val342Ala) rs757665544 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_015102.5(NPHP4):c.4075C>T (p.Arg1359Trp) rs369162678 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_015466.4(PTPN23):c.2680C>T (p.His894Tyr) rs967738491 0.00004
NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg) rs770692989 0.00004
NM_015937.6(PIGT):c.1520G>A (p.Arg507Gln) rs769195904 0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_016239.4(MYO15A):c.10202G>A (p.Arg3401His) rs370278266 0.00004
NM_016239.4(MYO15A):c.6371G>A (p.Arg2124Gln) rs368053088 0.00004
NM_016327.3(UPB1):c.464C>T (p.Ala155Val) rs199788632 0.00004
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu) rs761879076 0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His) rs782515431 0.00004
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser) rs199622789 0.00004
NM_017827.4(SARS2):c.1347G>A (p.Thr449=) rs200404654 0.00004
NM_017827.4(SARS2):c.694C>T (p.Arg232Cys) rs201347156 0.00004
NM_017837.4(PIGV):c.614A>G (p.Asn205Ser) rs766452597 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys) rs193204571 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_018129.4(PNPO):c.482G>A (p.Arg161His) rs770981773 0.00004
NM_018192.4(P3H2):c.2004G>C (p.Trp668Cys) rs745507744 0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_019616.4(F7):c.403G>A (p.Gly135Ser) rs763458490 0.00004
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_020451.3(SELENON):c.1574T>G (p.Met525Arg) rs761631813 0.00004
NM_020778.5(ALPK3):c.4499+2dup rs753084997 0.00004
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_022041.4(GAN):c.1634G>A (p.Arg545His) rs746486469 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887 0.00004
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met) rs371666279 0.00004
NM_024678.6(NARS2):c.1291T>C (p.Tyr431His) rs370150532 0.00004
NM_024685.4(BBS10):c.1837T>C (p.Tyr613His) rs141647931 0.00004
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn) rs200841458 0.00004
NM_025074.7(FRAS1):c.4843+2T>C rs370018000 0.00004
NM_025114.4(CEP290):c.4438-3del rs747323414 0.00004
NM_025215.6(PUS1):c.457G>A (p.Gly153Ser) rs372753711 0.00004
NM_030777.4(SLC2A10):c.848C>A (p.Ala283Asp) rs145994112 0.00004
NM_032620.4(GTPBP3):c.776A>G (p.Asn259Ser) rs777934121 0.00004
NM_032656.4(DHX37):c.1460G>A (p.Arg487His) rs779613772 0.00004
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_032806.6(POMGNT2):c.1181G>A (p.Arg394Gln) rs199612856 0.00004
NM_032861.4(SERAC1):c.1763del (p.Val588fs) rs770661156 0.00004
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) rs767263985 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_052989.3(IFT122):c.3031G>C (p.Ala1011Pro) rs199622112 0.00004
NM_080473.5(GATA5):c.550G>C (p.Gly184Arg) rs782773387 0.00004
NM_080680.3(COL11A2):c.1861C>A (p.Pro621Thr) rs121912952 0.00004
NM_133459.4(CCBE1):c.916-2A>G rs367990953 0.00004
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val) rs149896778 0.00004
NM_138691.3(TMC1):c.2027T>A (p.Val676Asp) rs764992976 0.00004
NM_138694.4(PKHD1):c.10402A>G (p.Ile3468Val) rs748863662 0.00004
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210 0.00004
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851 0.00004
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val) rs777976050 0.00004
NM_138694.4(PKHD1):c.5750A>G (p.Gln1917Arg) rs1412045164 0.00004
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=) rs776060304 0.00004
NM_139027.6(ADAMTS13):c.2746C>T (p.Arg916Cys) rs374444423 0.00004
NM_139076.3(ABRAXAS1):c.577C>T (p.Arg193Ter) rs201698934 0.00004
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His) rs202203360 0.00004
NM_152490.5(B3GALNT2):c.979G>A (p.Asp327Asn) rs753340395 0.00004
NM_152618.3(BBS12):c.1A>C (p.Met1Leu) rs750366365 0.00004
NM_152618.3(BBS12):c.476C>T (p.Pro159Leu) rs1450190654 0.00004
NM_152743.4(BRAT1):c.491C>T (p.Ala164Val) rs771600489 0.00004
NM_153766.3(KCNJ1):c.601C>T (p.Leu201Phe) rs200320892 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_170784.3(MKKS):c.862G>A (p.Val288Ile) rs113032343 0.00004
NM_172201.2(KCNE2):c.209G>A (p.Ser70Asn) rs751931568 0.00004
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly) rs121908143 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
NM_176787.5(PIGN):c.2354G>A (p.Arg785His) rs535563062 0.00004
NM_176869.3(PPA2):c.379C>T (p.Arg127Cys) rs372302682 0.00004
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605 0.00004
NM_198407.2(GHSR):c.611C>A (p.Ala204Glu) rs121917883 0.00004
NM_201548.5(CERKL):c.953T>C (p.Phe318Ser) rs745341953 0.00004
NM_206933.4(USH2A):c.11713C>T (p.Arg3905Cys) rs368675850 0.00004
NM_206933.4(USH2A):c.12574C>T (p.Arg4192Cys) rs750396156 0.00004
NM_206933.4(USH2A):c.13274C>T (p.Thr4425Met) rs201238640 0.00004
NM_206933.4(USH2A):c.14369A>C (p.Gln4790Pro) rs149807281 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.9258G>T (p.Gln3086His) rs1380261595 0.00004
NM_213599.3(ANO5):c.2521C>G (p.His841Asp) rs781027702 0.00004
NM_213720.3(CHCHD10):c.196G>A (p.Gly66Ser) rs374211312 0.00004
NC_000019.10:g.11089263C>G rs989307060 0.00003
NM_000016.6(ACADM):c.216+5G>T rs528788578 0.00003
NM_000016.6(ACADM):c.388-14A>G rs372525651 0.00003
NM_000016.6(ACADM):c.407C>T (p.Ala136Val) rs750792245 0.00003
NM_000016.6(ACADM):c.558T>A (p.Asn186Lys) rs754359356 0.00003
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.815G>A (p.Arg272His) rs374726386 0.00003
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val) rs539029862 0.00003
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1246G>T (p.Ala416Ser) rs118204018 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000018.4(ACADVL):c.521T>C (p.Val174Ala) rs372684079 0.00003
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718 0.00003
NM_000038.6(APC):c.70C>T (p.Arg24Ter) rs145945630 0.00003
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619 0.00003
NM_000048.4(ASL):c.284G>A (p.Arg95His) rs150244667 0.00003
NM_000048.4(ASL):c.577C>T (p.Arg193Trp) rs1428029508 0.00003
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg) rs587779812 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666 0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000067.3(CA2):c.472A>G (p.Lys158Glu) rs145667849 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val) rs146464862 0.00003
NM_000079.4(CHRNA1):c.235-323G>A rs750955953 0.00003
NM_000080.4(CHRNE):c.-95G>A rs990457690 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000083.3(CLCN1):c.826G>A (p.Gly276Ser) rs765181341 0.00003
NM_000089.4(COL1A2):c.2380C>T (p.Arg794Trp) rs759251034 0.00003
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg) rs777401300 0.00003
NM_000092.5(COL4A4):c.4708G>A (p.Glu1570Lys) rs757328549 0.00003
NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His) rs765987481 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His) rs149851163 0.00003
NM_000137.4(FAH):c.880A>C (p.Thr294Pro) rs370634385 0.00003
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys) rs587782946 0.00003
NM_000138.5(FBN1):c.442+1G>A rs868403743 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000152.5(GAA):c.1909C>A (p.Leu637Met) rs763301606 0.00003
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) rs752735168 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2799+4A>G rs778032599 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000154.2(GALK1):c.94G>A (p.Val32Met) rs104894576 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys) rs367543262 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg) rs61748906 0.00003
NM_000158.4(GBE1):c.293T>G (p.Val98Gly) rs775486403 0.00003
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095 0.00003
NM_000159.4(GCDH):c.1148G>A (p.Arg383His) rs764608975 0.00003
NM_000199.5(SGSH):c.391G>A (p.Val131Met) rs370636303 0.00003
NM_000203.5(IDUA):c.1487C>T (p.Pro496Leu) rs772416503 0.00003
NM_000212.3(ITGB3):c.1985G>A (p.Arg662His) rs369443204 0.00003
NM_000215.4(JAK3):c.2680+3G>C rs749481781 0.00003
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000243.3(MEFV):c.1886dup (p.Pro630fs) rs876660997 0.00003
NM_000249.4(MLH1):c.116+5G>A rs267607710 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu) rs759263820 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.3100-2A>C rs759013925 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000260.4(MYO7A):c.401T>A (p.Ile134Asn) rs111033181 0.00003
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln) rs376545731 0.00003
NM_000271.5(NPC1):c.1672G>T (p.Ala558Ser) rs201156397 0.00003
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu) rs780296175 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000277.3(PAH):c.965C>G (p.Ala322Gly) rs62514958 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000292.3(PHKA2):c.1603G>A (p.Asp535Asn) rs756254299 0.00003
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser) rs137854547 0.00003
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys) rs762894736 0.00003
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932 0.00003
NM_000322.5(PRPH2):c.425G>A (p.Arg142Gln) rs554945964 0.00003
NM_000322.5(PRPH2):c.927G>T (p.Glu309Asp) rs759011231 0.00003
NM_000322.5(PRPH2):c.946T>G (p.Trp316Gly) rs202230698 0.00003
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149 0.00003
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His) rs45627438 0.00003
NM_000335.5(SCN5A):c.3715G>C (p.Glu1239Gln) rs199473211 0.00003
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His) rs730880207 0.00003
NM_000335.5(SCN5A):c.393-1C>T rs759235726 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser) rs200034939 0.00003
NM_000335.5(SCN5A):c.4867G>A (p.Val1623Ile) rs794728888 0.00003
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val) rs571740084 0.00003
NM_000350.3(ABCA4):c.2432G>A (p.Arg811His) rs368016280 0.00003
NM_000350.3(ABCA4):c.3481C>T (p.Arg1161Cys) rs553776104 0.00003
NM_000350.3(ABCA4):c.4195G>A (p.Glu1399Lys) rs62642573 0.00003
NM_000350.3(ABCA4):c.4327C>T (p.Arg1443Cys) rs533422156 0.00003
NM_000350.3(ABCA4):c.6721C>G (p.Leu2241Val) rs61748521 0.00003
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr) rs766068851 0.00003
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His) rs769279368 0.00003
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly) rs121918724 0.00003
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000382.3(ALDH3A2):c.1267C>T (p.Arg423Cys) rs370654268 0.00003
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro) rs748143305 0.00003
NM_000388.4(CASR):c.2303G>T (p.Gly768Val) rs201858689 0.00003
NM_000391.4(TPP1):c.887-18A>G rs935526225 0.00003
NM_000393.5(COL5A2):c.3373G>A (p.Gly1125Arg) rs151187317 0.00003
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe) rs137852342 0.00003
NM_000407.5(GP1BB):c.127G>T (p.Gly43Trp) rs551140561 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr) rs773957702 0.00003
NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=) rs1047569721 0.00003
NM_000429.3(MAT1A):c.529C>T (p.Arg177Trp) rs376757912 0.00003
NM_000435.3(NOTCH3):c.3427C>T (p.Arg1143Cys) rs60373464 0.00003
NM_000439.5(PCSK1):c.470C>T (p.Thr157Met) rs200462856 0.00003
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser) rs747636919 0.00003
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val) rs540008835 0.00003
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser) rs121918442 0.00003
NM_000448.3(RAG1):c.335G>A (p.Arg112His) rs749223640 0.00003
NM_000466.3(PEX1):c.721del (p.Ser241fs) rs894289737 0.00003
NM_000487.6(ARSA):c.677C>T (p.Ala226Val) rs74315468 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.1125A>C (p.Leu375Phe) rs73215912 0.00003
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys) rs397508463 0.00003
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994 0.00003
NM_000500.9(CYP21A2):c.143A>G (p.Tyr48Cys) rs566306310 0.00003
NM_000500.9(CYP21A2):c.293-7C>G rs193922544 0.00003
NM_000518.5(HBB):c.-75G>C rs63750400 0.00003
NM_000518.5(HBB):c.316-12T>C rs781604042 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049 0.00003
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys) rs370760999 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000540.3(RYR1):c.10229C>T (p.Pro3410Leu) rs769196275 0.00003
NM_000540.3(RYR1):c.1099C>T (p.Arg367Trp) rs140037232 0.00003
NM_000540.3(RYR1):c.12335C>T (p.Ser4112Leu) rs193922847 0.00003
NM_000540.3(RYR1):c.13691G>A (p.Arg4564Gln) rs864309559 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000540.3(RYR1):c.7093G>A (p.Gly2365Arg) rs761224660 0.00003
NM_000540.3(RYR1):c.7099G>A (p.Ala2367Thr) rs146306934 0.00003
NM_000540.3(RYR1):c.7291G>A (p.Asp2431Asn) rs193922810 0.00003
NM_000540.3(RYR1):c.7771C>G (p.Arg2591Gly) rs193922822 0.00003
NM_000540.3(RYR1):c.947G>T (p.Arg316Leu) rs193922761 0.00003
NM_000540.3(RYR1):c.9811G>A (p.Glu3271Lys) rs773026490 0.00003
NM_000543.5(SMPD1):c.1498T>C (p.Tyr500His) rs771336819 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly) rs137853245 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000548.5(TSC2):c.5260-1G>C rs1057518103 0.00003
NM_000709.4(BCKDHA):c.890G>A (p.Arg297His) rs200137189 0.00003
NM_000843.4(GRM6):c.1214T>C (p.Ile405Thr) rs121434304 0.00003
NM_001001548.3(CD36):c.609+1G>A rs755124649 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001018115.3(FANCD2):c.2605+1G>A rs142365855 0.00003
NM_001039141.3(TRIOBP):c.5317C>T (p.Arg1773Ter) rs368112491 0.00003
NM_001041.4(SI):c.2401G>T (p.Glu801Ter) rs200972419 0.00003
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) rs957203033 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_001079866.2(BCS1L):c.551G>A (p.Arg184His) rs779504946 0.00003
NM_001080467.3(MYO5B):c.946G>A (p.Gly316Arg) rs753558336 0.00003
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr) rs201720797 0.00003
NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe) rs775782206 0.00003
NM_001126108.2(SLC12A3):c.160C>T (p.Arg54Cys) rs774753302 0.00003
NM_001126108.2(SLC12A3):c.2599G>A (p.Gly867Ser) rs370301695 0.00003
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln) rs747583441 0.00003
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln) rs148860301 0.00003
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) rs794729148 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001136035.4(TRMT1):c.310+5G>C rs374273151 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr) rs888739369 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala) rs777829351 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001211.6(BUB1B):c.2386-11A>G rs751421137 0.00003
NM_001252024.2(TRPM1):c.3070A>T (p.Ile1024Phe) rs369484186 0.00003
NM_001258392.3(CLPB):c.713C>T (p.Thr238Met) rs200032855 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.17461+1G>T rs747990127 0.00003
NM_001267550.2(TTN):c.33742+1G>T rs772114165 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.55269G>C (p.Lys18423Asn) rs367799017 0.00003
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs) rs587780494 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001276345.2(TNNT2):c.721G>C (p.Glu241Gln) rs1189945246 0.00003
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp) rs398123018 0.00003
NM_001303.4(COX10):c.1225C>T (p.Arg409Trp) rs368918847 0.00003
NM_001360.3(DHCR7):c.1336C>T (p.Arg446Trp) rs145043679 0.00003
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys) rs565893436 0.00003
NM_001363711.2(DUOX2):c.3847+2T>C rs199752932 0.00003
NM_001363711.2(DUOX2):c.959T>C (p.Leu320Pro) rs544236153 0.00003
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu) rs397514427 0.00003
NM_001370658.1(BTD):c.322T>G (p.Phe108Val) rs397514355 0.00003
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser) rs397514377 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001374736.1(DST):c.16609-1G>T rs766657292 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg) rs761765709 0.00003
NM_001378477.3(NYX):c.1339G>T (p.Gly447Ter) rs764736358 0.00003
NM_001384140.1(PCDH15):c.3101G>A (p.Arg1034His) rs907693214 0.00003
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.3857G>A (p.Arg1286His) rs139464953 0.00003
NM_001384732.1(CPLANE1):c.968C>T (p.Thr323Met) rs373704405 0.00003
NM_001540.5(HSPB1):c.372C>G (p.His124Gln) rs145243219 0.00003
NM_001723.7(DST):c.3748C>T (p.Arg1250Ter) rs779271284 0.00003
NM_001770.6(CD19):c.1635del (p.Gly546fs) rs774006181 0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_001844.5(COL2A1):c.3505G>A (p.Val1169Ile) rs760390497 0.00003
NM_001845.6(COL4A1):c.922G>A (p.Gly308Arg) rs370677625 0.00003
NM_001849.4(COL6A2):c.2488C>T (p.Arg830Trp) rs373072443 0.00003
NM_001851.6(COL9A1):c.876+1G>C rs202232444 0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr) rs548046212 0.00003
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546 0.00003
NM_002340.6(LSS):c.1194+5G>A rs748758448 0.00003
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002471.4(MYH6):c.1108C>T (p.Arg370Trp) rs753444140 0.00003
NM_002529.4(NTRK1):c.219C>T (p.Ile73=) rs563296138 0.00003
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln) rs724160001 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp) rs121918053 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro) rs763205408 0.00003
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NM_003000.3(SDHB):c.304G>A (p.Ala102Thr) rs777578399 0.00003
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val) rs199689597 0.00003
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194 0.00003
NM_003126.4(SPTA1):c.781T>C (p.Ser261Pro) rs121918636 0.00003
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter) rs745646456 0.00003
NM_003331.5(TYK2):c.691C>T (p.Arg231Trp) rs201917359 0.00003
NM_003480.4(MFAP5):c.88C>T (p.Arg30Ter) rs962247688 0.00003
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004183.4(BEST1):c.37C>T (p.Arg13Cys) rs886041141 0.00003
NM_004183.4(BEST1):c.55C>T (p.Arg19Cys) rs765385264 0.00003
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser) rs386833848 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004453.4(ETFDH):c.1084G>A (p.Gly362Arg) rs369711837 0.00003
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp) rs863224110 0.00003
NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp) rs1230432769 0.00003
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro) rs138294250 0.00003
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter) rs754859909 0.00003
NM_005476.7(GNE):c.673G>A (p.Asp225Asn) rs121908630 0.00003
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp) rs780656375 0.00003
NM_005677.4(COLQ):c.1321A>G (p.Thr441Ala) rs375215281 0.00003
NM_005677.4(COLQ):c.1354C>T (p.Arg452Cys) rs368932156 0.00003
NM_005912.3(MC4R):c.449C>T (p.Thr150Ile) rs766665118 0.00003
NM_006059.4(LAMC3):c.976+1G>C rs201519274 0.00003
NM_006517.5(SLC16A2):c.1204A>T (p.Met402Leu) rs773263889 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472 0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro) rs587782471 0.00003
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192 0.00003
NM_007272.3(CTRC):c.181G>A (p.Gly61Arg) rs769482036 0.00003
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123 0.00003
NM_007375.4(TARDBP):c.800A>G (p.Asn267Ser) rs80356718 0.00003
NM_012144.4(DNAI1):c.1703G>C (p.Trp568Ser) rs772686744 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013382.7(POMT2):c.553G>A (p.Gly185Arg) rs886050826 0.00003
NM_014049.5(ACAD9):c.1525G>A (p.Gly509Ser) rs141036010 0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg) rs368222811 0.00003
NM_014336.5(AIPL1):c.190G>A (p.Gly64Arg) rs776024427 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His) rs761221416 0.00003
NM_015599.3(PGM3):c.-2-194C>T rs753019951 0.00003
NM_016034.5(MRPS2):c.413G>A (p.Arg138His) rs758539748 0.00003
NM_016180.5(SLC45A2):c.1325C>T (p.Pro442Leu) rs769448704 0.00003
NM_016180.5(SLC45A2):c.1532C>T (p.Ala511Val) rs748872789 0.00003
NM_016188.5(ACTL6B):c.652T>C (p.Tyr218His) rs747962927 0.00003
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile) rs752029771 0.00003
NM_017570.5(OPLAH):c.659C>T (p.Ser220Leu) rs781785267 0.00003
NM_017763.6(RNF43):c.1948C>T (p.Arg650Ter) rs371553160 0.00003
NM_017775.4(TTC19):c.7C>T (p.Arg3Trp) rs756830714 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_017807.4(OSGEP):c.973C>T (p.Arg325Trp) rs761839638 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_018105.3(THAP1):c.238A>G (p.Ile80Val) rs372080941 0.00003
NM_018344.6(SLC29A3):c.625G>A (p.Gly209Arg) rs779712924 0.00003
NM_018451.5(CPAP):c.2704C>T (p.Arg902Ter) rs374057641 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_019892.6(INPP5E):c.1534C>T (p.Arg512Trp) rs374152018 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_020320.5(RARS2):c.1679G>A (p.Arg560His) rs756502974 0.00003
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020765.3(UBR4):c.13828C>A (p.Pro4610Thr) rs761960636 0.00003
NM_020774.4(MIB1):c.2305C>T (p.Arg769Ter) rs752243957 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020975.6(RET):c.3185A>G (p.Tyr1062Cys) rs587778659 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_022168.4(IFIH1):c.2045-1G>A rs748813106 0.00003
NM_022552.5(DNMT3A):c.1904G>A (p.Arg635Gln) rs751562376 0.00003
NM_024417.5(FDXR):c.248C>T (p.Ala83Val) rs756882582 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser) rs730881878 0.00003
NM_024678.6(NARS2):c.749G>A (p.Arg250Gln) rs150879145 0.00003
NM_024747.6(HPS6):c.1A>G (p.Met1Val) rs763073715 0.00003
NM_024753.5(TTC21B):c.3264-3C>G rs189122492 0.00003
NM_024996.7(GFM1):c.1369C>T (p.Pro457Ser) rs369399450 0.00003
NM_025233.7(COASY):c.778C>T (p.Pro260Ser) rs756141692 0.00003
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg) rs376306240 0.00003
NM_031885.5(BBS2):c.943C>T (p.Arg315Trp) rs121908178 0.00003
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His) rs374334794 0.00003
NM_032380.5(GFM2):c.569G>A (p.Arg190Gln) rs761283105 0.00003
NM_032520.5(GNPTG):c.742-1G>T rs373976323 0.00003
NM_032856.5(WDR73):c.518-10G>A rs769933431 0.00003
NM_033028.5(BBS4):c.712-1G>A rs377031435 0.00003
NM_033109.5(PNPT1):c.1382T>C (p.Val461Ala) rs752666494 0.00003
NM_080424.4(SP110):c.1984C>T (p.Arg662Ter) rs201059449 0.00003
NM_080916.3(DGUOK):c.444-11C>G rs536746349 0.00003
NM_130810.4(DNAAF4):c.988C>T (p.Arg330Trp) rs201173498 0.00003
NM_133259.4(LRPPRC):c.515A>G (p.Tyr172Cys) rs187584458 0.00003
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup) rs777828182 0.00003
NM_138413.4(HOGA1):c.953G>A (p.Arg318His) rs201347931 0.00003
NM_138691.3(TMC1):c.1141T>A (p.Tyr381Asn) rs749491943 0.00003
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr) rs137852948 0.00003
NM_138694.4(PKHD1):c.7430T>G (p.Phe2477Cys) rs1366295189 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_144773.4(PROKR2):c.533G>C (p.Trp178Ser) rs201835496 0.00003
NM_152305.3(POGLUT1):c.814C>T (p.Arg272Ter) rs747897279 0.00003
NM_153676.4(USH1C):c.121G>A (p.Val41Met) rs780439529 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_172201.2(KCNE2):c.347C>T (p.Ala116Val) rs199473367 0.00003
NM_174936.4(PCSK9):c.610G>A (p.Asp204Asn) rs793888521 0.00003
NM_182476.3(COQ6):c.1139A>G (p.Asn380Ser) rs753489572 0.00003
NM_183050.4(BCKDHB):c.33_34del (p.Leu12fs) rs398124572 0.00003
NM_198253.3(TERT):c.193C>G (p.Pro65Ala) rs544215765 0.00003
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser) rs767648174 0.00003
NM_206933.4(USH2A):c.4016T>G (p.Val1339Gly) rs781668118 0.00003
NM_206933.4(USH2A):c.821G>A (p.Arg274Gln) rs727504721 0.00003
NM_206933.4(USH2A):c.9882C>G (p.Cys3294Trp) rs749228276 0.00003
NM_207346.3(TSEN54):c.1415G>A (p.Arg472Gln) rs151332020 0.00003
NM_213599.3(ANO5):c.173G>A (p.Arg58Gln) rs749698519 0.00003
NM_213599.3(ANO5):c.817C>T (p.Leu273Phe) rs772929002 0.00003
NM_213653.4(HJV):c.665T>A (p.Ile222Asn) rs74315325 0.00003
NC_000011.10:g.5227261C>T rs753344875 0.00002
NC_000019.10:g.11089396C>T rs879254366 0.00002
NC_000019.10:g.11089410C>G rs879254371 0.00002
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg) rs757434857 0.00002
NM_000016.6(ACADM):c.158G>A (p.Arg53His) rs754938068 0.00002
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) rs758111285 0.00002
NM_000016.6(ACADM):c.709-13A>G rs746483754 0.00002
NM_000017.4(ACADS):c.934-5T>A rs749885391 0.00002
NM_000018.4(ACADVL):c.1077G>A (p.Ala359=) rs779458466 0.00002
NM_000018.4(ACADVL):c.1154G>A (p.Arg385Gln) rs772014118 0.00002
NM_000018.4(ACADVL):c.485G>A (p.Arg162His) rs754756970 0.00002
NM_000018.4(ACADVL):c.709T>C (p.Cys237Arg) rs1189763523 0.00002
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000023.4(SGCA):c.242G>A (p.Arg81His) rs747984529 0.00002
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00002
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr) rs118203941 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801 0.00002
NM_000053.4(ATP7B):c.2575+5G>C rs551030054 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.3505A>G (p.Met1169Val) rs749085322 0.00002
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353 0.00002
NM_000053.4(ATP7B):c.676C>T (p.Arg226Trp) rs749626601 0.00002
NM_000055.4(BCHE):c.1584T>A (p.Tyr528Ter) rs760485585 0.00002
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu) rs80358995 0.00002
NM_000069.3(CACNA1S):c.1948+1G>A rs745712829 0.00002
NM_000070.3(CAPN3):c.1006T>G (p.Tyr336Asp) rs745967703 0.00002
NM_000070.3(CAPN3):c.1202A>G (p.Tyr401Cys) rs371784007 0.00002
NM_000071.3(CBS):c.301C>G (p.Leu101Val) rs369644531 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.1372G>C (p.Gly458Arg) rs757341933 0.00002
NM_000091.5(COL4A3):c.2954G>T (p.Gly985Val) rs121912827 0.00002
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg) rs772708743 0.00002
NM_000092.5(COL4A4):c.2242G>A (p.Gly748Ser) rs762139460 0.00002
NM_000094.4(COL7A1):c.2710G>T (p.Gly904Cys) rs781144604 0.00002
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000094.4(COL7A1):c.7068+5G>A rs779875751 0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000130.5(F5):c.1321C>T (p.Arg441Cys) rs747006175 0.00002
NM_000132.4(F8):c.1748A>G (p.Asn583Ser) rs782657516 0.00002
NM_000132.4(F8):c.2149C>T (p.Arg717Trp) rs137852435 0.00002
NM_000135.4(FANCA):c.2778+1G>A rs140180549 0.00002
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met) rs142833057 0.00002
NM_000137.4(FAH):c.398A>T (p.His133Leu) rs775152764 0.00002
NM_000137.4(FAH):c.696C>T (p.Asn232=) rs533540262 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3937G>A (p.Gly1313Ser) rs1156984408 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000138.5(FBN1):c.5443G>A (p.Gly1815Ser) rs745680336 0.00002
NM_000138.5(FBN1):c.5518C>T (p.Arg1840Cys) rs765387131 0.00002
NM_000138.5(FBN1):c.6007G>A (p.Gly2003Arg) rs1413737899 0.00002
NM_000143.4(FH):c.2T>G (p.Met1Arg) rs201261794 0.00002
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.317G>A (p.Arg106His) rs772534106 0.00002
NM_000152.5(GAA):c.460C>T (p.Arg154Cys) rs539841659 0.00002
NM_000152.5(GAA):c.858G>A (p.Thr286=) rs201056962 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000153.4(GALC):c.674C>A (p.Ala225Glu) rs373077659 0.00002
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637 0.00002
NM_000157.4(GBA1):c.901C>T (p.Arg301Cys) rs374117599 0.00002
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val) rs933624223 0.00002
NM_000159.4(GCDH):c.641C>T (p.Thr214Met) rs1131692030 0.00002
NM_000163.5(GHR):c.1802_1803del (p.Val601fs) rs777688795 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp) rs183024300 0.00002
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00002
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243 0.00002
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp) rs764039230 0.00002
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe) rs780239925 0.00002
NM_000202.8(IDS):c.1478G>A (p.Arg493His) rs782347729 0.00002
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu) rs776710796 0.00002
NM_000212.3(ITGB3):c.187C>T (p.Arg63Cys) rs199866795 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000232.5(SGCB):c.355A>T (p.Ile119Phe) rs762412447 0.00002
NM_000235.4(LIPA):c.256C>T (p.His86Tyr) rs749180806 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His) rs730880568 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu) rs730880158 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000260.4(MYO7A):c.2002C>T (p.Arg668Cys) rs397516292 0.00002
NM_000260.4(MYO7A):c.3827C>T (p.Ser1276Leu) rs369458838 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000260.4(MYO7A):c.616C>T (p.Arg206Cys) rs782361954 0.00002
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile) rs749140168 0.00002
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu) rs104894595 0.00002
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429 0.00002
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys) rs202140203 0.00002
NM_000271.5(NPC1):c.2873G>A (p.Arg958Gln) rs120074132 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000273.3(GPR143):c.695C>T (p.Thr232Met) rs137852297 0.00002
NM_000275.3(OCA2):c.1699G>A (p.Glu567Lys) rs779086242 0.00002
NM_000275.3(OCA2):c.874T>C (p.Phe292Leu) rs745573222 0.00002
NM_000277.3(PAH):c.1136T>C (p.Val379Ala) rs746203167 0.00002
NM_000277.3(PAH):c.1218A>G (p.Ile406Met) rs773526027 0.00002
NM_000277.3(PAH):c.463C>T (p.Arg155Cys) rs539743701 0.00002
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000295.5(SERPINA1):c.701T>A (p.Val234Glu) rs746197812 0.00002
NM_000303.3(PMM2):c.447+5G>A rs367852554 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000313.4(PROS1):c.233C>T (p.Thr78Met) rs6122 0.00002
NM_000317.3(PTS):c.400G>A (p.Glu134Lys) rs779681799 0.00002
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.464C>T (p.Thr155Ile) rs199572514 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys) rs762012668 0.00002
NM_000341.4(SLC3A1):c.1367G>A (p.Arg456His) rs373852467 0.00002
NM_000350.3(ABCA4):c.179C>T (p.Ala60Val) rs55732384 0.00002
NM_000350.3(ABCA4):c.3298A>G (p.Ile1100Val) rs572604704 0.00002
NM_000350.3(ABCA4):c.4739T>C (p.Leu1580Ser) rs777415466 0.00002
NM_000350.3(ABCA4):c.587C>T (p.Pro196Leu) rs769176363 0.00002
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg) rs764349043 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000359.3(TGM1):c.967C>T (p.Arg323Trp) rs771820315 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_000392.5(ABCC2):c.4179G>T (p.Met1393Ile) rs779736415 0.00002
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln) rs200870056 0.00002
NM_000400.4(ERCC2):c.1726G>A (p.Glu576Lys) rs201165309 0.00002
NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser) rs764868582 0.00002
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln) rs572237881 0.00002
NM_000414.4(HSD17B4):c.1528G>A (p.Asp510Asn) rs191468413 0.00002
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter) rs201728041 0.00002
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) rs994170964 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val) rs372875358 0.00002
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000463.3(UGT1A1):c.1175C>T (p.Pro392Leu) rs886043066 0.00002
NM_000465.4(BARD1):c.1569-13C>G rs587780018 0.00002
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp) rs398123408 0.00002
NM_000478.6(ALPL):c.655A>G (p.Met219Val) rs772432010 0.00002
NM_000486.6(AQP2):c.190G>A (p.Gly64Arg) rs104894326 0.00002
NM_000487.6(ARSA):c.251C>T (p.Pro84Leu) rs6151411 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.330C>A (p.Asp110Glu) rs397508537 0.00002
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter) rs374705585 0.00002
NM_000497.4(CYP11B1):c.412C>T (p.Arg138Cys) rs764251434 0.00002
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994 0.00002
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser) rs749891007 0.00002
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu) rs542835085 0.00002
NM_000512.5(GALNS):c.986A>C (p.His329Pro) rs760892654 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) rs751592419 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1335C>A (p.Asp445Glu) rs749780672 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.409G>A (p.Gly137Ser) rs730882082 0.00002
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg) rs864621993 0.00002
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg) rs768233248 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter) rs373151027 0.00002
NM_000540.3(RYR1):c.11314C>T (p.Arg3772Trp) rs763112609 0.00002
NM_000540.3(RYR1):c.122T>C (p.Phe41Ser) rs766407858 0.00002
NM_000540.3(RYR1):c.13990T>C (p.Cys4664Arg) rs759500310 0.00002
NM_000540.3(RYR1):c.14173-2A>G rs1189024951 0.00002
NM_000540.3(RYR1):c.2045G>A (p.Arg682Gln) rs372513400 0.00002
NM_000540.3(RYR1):c.2635G>A (p.Glu879Lys) rs746904839 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp) rs779733902 0.00002
NM_000540.3(RYR1):c.6359T>C (p.Met2120Thr) rs398123473 0.00002
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile) rs193922797 0.00002
NM_000543.5(SMPD1):c.1106A>G (p.Tyr369Cys) rs372287825 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000553.6(WRN):c.3460-7T>A rs1334937558 0.00002
NM_000554.6(CRX):c.268C>T (p.Arg90Trp) rs104894673 0.00002
NM_000666.3(ACY1):c.1132C>T (p.Arg378Trp) rs148346337 0.00002
NM_000709.4(BCKDHA):c.1087C>T (p.Arg363Trp) rs942815730 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_000925.4(PDHB):c.956A>T (p.Asp319Val) rs199983136 0.00002
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_001004334.4(GPR179):c.349G>A (p.Asp117Asn) rs776996552 0.00002
NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter) rs934287314 0.00002
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) rs104894187 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001025356.3(ANO6):c.1880+1G>A rs371269172 0.00002
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367 0.00002
NM_001034116.2(EIF2B4):c.626G>A (p.Arg209Gln) rs113994028 0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513 0.00002
NM_001038603.3(MARVELD2):c.782G>A (p.Gly261Glu) rs556959034 0.00002
NM_001042413.2(GLIS3):c.94C>T (p.Arg32Ter) rs753993867 0.00002
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr) rs765893479 0.00002
NM_001042492.3(NF1):c.4357G>A (p.Val1453Ile) rs199474755 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.1698+1G>A rs763586263 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590 0.00002
NM_001083614.2(EARS2):c.1394T>C (p.Leu465Pro) rs759857078 0.00002
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900 0.00002
NM_001126108.2(SLC12A3):c.1049C>T (p.Ser350Leu) rs778585043 0.00002
NM_001126108.2(SLC12A3):c.1075A>G (p.Asn359Asp) rs781030242 0.00002
NM_001127255.2(NLRP7):c.2130-2A>G rs764734665 0.00002
NM_001127671.2(LIFR):c.1756G>T (p.Glu586Ter) rs754527323 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001142800.2(EYS):c.-448+5G>A rs1175129177 0.00002
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp) rs748838955 0.00002
NM_001171.6(ABCC6):c.3883-6G>A rs72664214 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_001256317.3(TMPRSS3):c.1148T>A (p.Met383Lys) rs749798053 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.107255G>A (p.Arg35752His) rs760107623 0.00002
NM_001267550.2(TTN):c.107628del (p.Asn35876fs) rs766624923 0.00002
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter) rs746721983 0.00002
NM_001267550.2(TTN):c.29962+1G>T rs774961188 0.00002
NM_001267550.2(TTN):c.34855+1G>A rs377319699 0.00002
NM_001267550.2(TTN):c.39115A>C (p.Thr13039Pro) rs766921440 0.00002
NM_001267550.2(TTN):c.52406-2A>C rs753798236 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.7057+2dup rs765019023 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001273.5(CHD4):c.1481C>T (p.Thr494Met) rs375234607 0.00002
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln) rs754142863 0.00002
NM_001283009.2(RTEL1):c.3730T>C (p.Cys1244Arg) rs587777037 0.00002
NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys) rs375933774 0.00002
NM_001297.5(CNGB1):c.1A>T (p.Met1Leu) rs745636376 0.00002
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756 0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001360.3(DHCR7):c.1426T>C (p.Ter476Gln) rs775034584 0.00002
NM_001360.3(DHCR7):c.321G>C (p.Gln107His) rs104886040 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile) rs370918918 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 0.00002
NM_001364171.2(ODAD1):c.707C>T (p.Ala236Val) rs374990723 0.00002
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001371904.1(APOA5):c.913C>T (p.Gln305Ter) rs1403296082 0.00002
NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val) rs760635983 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001379500.1(COL18A1):c.3028G>A (p.Gly1010Ser) rs1057518766 0.00002
NM_001382.4(DPAGT1):c.790G>A (p.Val264Met) rs745872044 0.00002
NM_001384140.1(PCDH15):c.2751+2T>C rs754543131 0.00002
NM_001384732.1(CPLANE1):c.4634G>A (p.Arg1545His) rs765457523 0.00002
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) rs1057518968 0.00002
NM_001394062.1(MACF1):c.3827G>A (p.Arg1276Gln) rs559634261 0.00002
NM_001673.5(ASNS):c.1019G>A (p.Arg340His) rs1360484422 0.00002
NM_001673.5(ASNS):c.728T>C (p.Val243Ala) rs148111963 0.00002
NM_001698.3(AUH):c.719C>T (p.Ala240Val) rs769894315 0.00002
NM_001845.6(COL4A1):c.1729G>C (p.Gly577Arg) rs752009614 0.00002
NM_001846.4(COL4A2):c.360+1G>A rs759305120 0.00002
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 0.00002
NM_002225.5(IVD):c.-8T>C rs566691073 0.00002
NM_002225.5(IVD):c.-9A>T rs373594717 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002225.5(IVD):c.865G>A (p.Gly289Arg) rs568885234 0.00002
NM_002296.4(LBR):c.1747C>T (p.Arg583Ter) rs1057516045 0.00002
NM_002296.4(LBR):c.1756C>T (p.Arg586Cys) rs199675363 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002437.5(MPV17):c.376-9T>G rs368900406 0.00002
NM_002528.7(NTHL1):c.791+1G>A rs374616565 0.00002
NM_002617.4(PEX10):c.868C>G (p.His290Asp) rs61752094 0.00002
NM_002633.3(PGM1):c.1543C>T (p.Arg515Trp) rs775651976 0.00002
NM_002662.5(PLD1):c.2543+1G>T rs779667018 0.00002
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys) rs199759055 0.00002
NM_002693.3(POLG):c.1250+5G>T rs751221993 0.00002
NM_002693.3(POLG):c.1735C>T (p.Arg579Trp) rs556925652 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser) rs548076633 0.00002
NM_002860.4(ALDH18A1):c.251G>A (p.Arg84Gln) rs121434582 0.00002
NM_002862.4(PYGB):c.2047A>G (p.Met683Val) rs201805961 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_003059.3(SLC22A4):c.338G>A (p.Cys113Tyr) rs768484124 0.00002
NM_003322.6(TULP1):c.1063G>A (p.Asp355Asn) rs1085307806 0.00002
NM_003322.6(TULP1):c.1256G>A (p.Arg419Gln) rs770045008 0.00002
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val) rs764957976 0.00002
NM_003640.5(ELP1):c.312T>A (p.Cys104Ter) rs1291760879 0.00002
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003791.4(MBTPS1):c.2572+5G>A rs369928148 0.00002
NM_003846.3(PEX11B):c.361C>T (p.Gln121Ter) rs782365743 0.00002
NM_003849.4(SUCLG1):c.825+1G>A rs750388794 0.00002
NM_003900.5(SQSTM1):c.1273G>A (p.Gly425Arg) rs757212984 0.00002
NM_003907.3(EIF2B5):c.664C>T (p.Arg222Trp) rs151061485 0.00002
NM_004004.6(GJB2):c.194A>G (p.Tyr65Cys) rs111033203 0.00002
NM_004044.7(ATIC):c.1277A>G (p.Lys426Arg) rs121434478 0.00002
NM_004064.5(CDKN1B):c.206C>T (p.Pro69Leu) rs777354267 0.00002
NM_004092.4(ECHS1):c.458A>G (p.Tyr153Cys) rs759771909 0.00002
NM_004482.4(GALNT3):c.485G>A (p.Arg162Gln) rs766717305 0.00002
NM_004646.4(NPHS1):c.1714A>G (p.Ser572Gly) rs755254230 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_004722.4(AP4M1):c.953G>A (p.Arg318Gln) rs531148057 0.00002
NM_004826.4(ECEL1):c.1507-9G>A rs797045548 0.00002
NM_004928.3(CFAP410):c.96+6T>A rs758835278 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp) rs774980346 0.00002
NM_005198.5(CHKB):c.722A>G (p.Asn241Ser) rs371751084 0.00002
NM_005247.4(FGF3):c.166C>T (p.Leu56Phe) rs782324453 0.00002
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala) rs200856070 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005548.3(KARS1):c.690A>T (p.Arg230Ser) rs1370913867 0.00002
NM_005560.6(LAMA5):c.6101A>G (p.Asp2034Gly) rs773956500 0.00002
NM_005560.6(LAMA5):c.7975C>T (p.Arg2659Trp) rs201012962 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro) rs776680924 0.00002
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys) rs200038732 0.00002
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro) rs780375860 0.00002
NM_005908.4(MANBA):c.378+1G>A rs142029636 0.00002
NM_006019.4(TCIRG1):c.117+1G>A rs377303800 0.00002
NM_006231.4(POLE):c.4872G>A (p.Trp1624Ter) rs754982151 0.00002
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln) rs137853100 0.00002
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp) rs146918863 0.00002
NM_006397.3(RNASEH2A):c.703C>T (p.Arg235Trp) rs773112247 0.00002
NM_006432.5(NPC2):c.278G>T (p.Cys93Phe) rs143960270 0.00002
NM_006623.4(PHGDH):c.374C>T (p.Thr125Met) rs764618040 0.00002
NM_006767.4(LZTR1):c.2463dup (p.Asp822fs) rs781251567 0.00002
NM_006767.4(LZTR1):c.353G>A (p.Arg118His) rs769001939 0.00002
NM_006846.4(SPINK5):c.3018T>A (p.Cys1006Ter) rs766978225 0.00002
NM_006929.5(SKIC2):c.757C>T (p.Arg253Ter) rs768503878 0.00002
NM_007059.4(KPTN):c.863G>A (p.Arg288Gln) rs772378754 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007194.4(CHEK2):c.428A>G (p.His143Arg) rs587782300 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.980A>G (p.Tyr327Cys) rs587780194 0.00002
NM_007294.4(BRCA1):c.5332+4A>G rs80358166 0.00002
NM_012120.3(CD2AP):c.1834C>T (p.Arg612Ter) rs267606710 0.00002
NM_012123.4(MTO1):c.1325G>A (p.Arg442Gln) rs765548847 0.00002
NM_012203.2(GRHPR):c.866-2A>G rs200316691 0.00002
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_013339.4(ALG6):c.1387_1388del (p.Pro463fs) rs774242915 0.00002
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303 0.00002
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) rs587780423 0.00002
NM_014043.4(CHMP2B):c.376C>T (p.Gln126Ter) rs1203007423 0.00002
NM_014249.4(NR2E3):c.364C>T (p.Arg122Cys) rs527236086 0.00002
NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser) rs758938066 0.00002
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014915.3(ANKRD26):c.1035_1036insT (p.Lys346Ter) rs780613456 0.00002
NM_014946.4(SPAST):c.631G>A (p.Val211Ile) rs143003434 0.00002
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter) rs780849567 0.00002
NM_015046.7(SETX):c.6029A>G (p.Asn2010Ser) rs759806045 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015214.3(DDHD2):c.724C>T (p.Arg242Cys) rs1380005347 0.00002
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213 0.00002
NM_015346.4(ZFYVE26):c.5791-6G>A rs771906344 0.00002
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys) rs750340477 0.00002
NM_015693.4(INTU):c.1288C>T (p.Arg430Cys) rs1227833863 0.00002
NM_015713.5(RRM2B):c.118C>T (p.Arg40Cys) rs776184830 0.00002
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val) rs121918311 0.00002
NM_015909.4(NBAS):c.758T>G (p.Val253Gly) rs764164808 0.00002
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326 0.00002
NM_016222.4(DDX41):c.653G>A (p.Gly218Asp) rs371460149 0.00002
NM_016222.4(DDX41):c.766G>A (p.Glu256Lys) rs746011550 0.00002
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016247.4(IMPG2):c.911G>A (p.Gly304Asp) rs749723076 0.00002
NM_017534.6(MYH2):c.3460G>A (p.Glu1154Lys) rs376357016 0.00002
NM_017671.5(FERMT1):c.1718+2T>C rs760256639 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_017841.4(SDHAF2):c.165G>A (p.Trp55Ter) rs774508076 0.00002
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634 0.00002
NM_017950.4(CCDC40):c.2832+360C>T rs1567813319 0.00002
NM_018006.5(TRMU):c.1135G>T (p.Gly379Cys) rs773023974 0.00002
NM_018006.5(TRMU):c.680G>C (p.Arg227Thr) rs764622793 0.00002
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp) rs767713084 0.00002
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter) rs553697188 0.00002
NM_018344.6(SLC29A3):c.401G>A (p.Arg134His) rs761175955 0.00002
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) rs761027478 0.00002
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1666-12A>G rs372545147 0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020191.4(MRPS22):c.502C>T (p.Arg168Trp) rs544369132 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272 0.00002
NM_020533.3(MCOLN1):c.362C>T (p.Thr121Met) rs750170007 0.00002
NM_020549.5(CHAT):c.1840-9A>G rs1279554995 0.00002
NM_020774.4(MIB1):c.1176C>A (p.Tyr392Ter) rs748226232 0.00002
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln) rs758152252 0.00002
NM_021615.5(CHST6):c.997T>C (p.Trp333Arg) rs758657734 0.00002
NM_021971.4(GMPPB):c.931C>T (p.Arg311Cys) rs371188899 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022132.5(MCCC2):c.129+3A>G rs1352606118 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_022370.4(ROBO3):c.1379A>G (p.Gln460Arg) rs771613910 0.00002
NM_022552.5(DNMT3A):c.2141C>G (p.Ser714Cys) rs367909007 0.00002
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) rs1247934219 0.00002
NM_024417.5(FDXR):c.221C>T (p.Pro74Leu) rs746953590 0.00002
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter) rs397517395 0.00002
NM_024649.5(BBS1):c.1110+329C>T rs571170303 0.00002
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) rs183771956 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024678.6(NARS2):c.151C>T (p.Arg51Cys) rs367584549 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_024725.4(CCDC82):c.535C>T (p.Arg179Ter) rs758691852 0.00002
NM_024741.3(ZNF408):c.1699C>T (p.Arg567Ter) rs774627405 0.00002
NM_024753.5(TTC21B):c.1715C>A (p.Ser572Ter) rs369159801 0.00002
NM_025130.4(HKDC1):c.1088C>T (p.Pro363Leu) rs200034765 0.00002
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00002
NM_025216.3(WNT10A):c.311G>A (p.Arg104His) rs374910216 0.00002
NM_030662.4(MAP2K2):c.528G>A (p.Ala176=) rs767939999 0.00002
NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg) rs730880522 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_030962.4(SBF2):c.4394G>A (p.Gly1465Glu) rs762165359 0.00002
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_031407.7(HUWE1):c.12980G>A (p.Arg4327Gln) rs1290768701 0.00002
NM_031885.5(BBS2):c.118G>T (p.Val40Phe) rs886043059 0.00002
NM_031885.5(BBS2):c.1894C>T (p.Arg632Cys) rs200021475 0.00002
NM_032237.5(POMK):c.905T>A (p.Val302Asp) rs199756983 0.00002
NM_032607.3(CREB3L3):c.718G>A (p.Glu240Lys) rs778428363 0.00002
NM_033109.5(PNPT1):c.575G>A (p.Arg192Gln) rs772153760 0.00002
NM_033163.5(FGF8):c.451G>A (p.Gly151Ser) rs606231407 0.00002
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp) rs730880422 0.00002
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) rs553547069 0.00002
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_052859.4(RFT1):c.200G>A (p.Arg67His) rs753527390 0.00002
NM_053025.4(MYLK):c.1517-2A>G rs770709606 0.00002
NM_053025.4(MYLK):c.505C>T (p.Arg169Ter) rs778050996 0.00002
NM_054012.4(ASS1):c.920G>A (p.Arg307His) rs571576756 0.00002
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308 0.00002
NM_058216.3(RAD51C):c.571+5G>A rs145779113 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) rs144045461 0.00002
NM_138370.3(PKDCC):c.785T>G (p.Leu262Arg) rs373676533 0.00002
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys) rs267606762 0.00002
NM_138694.4(PKHD1):c.4199C>T (p.Ser1400Leu) rs191201723 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.5830G>A (p.Asp1944Asn) rs774290802 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg) rs398124497 0.00002
NM_138694.4(PKHD1):c.9059T>C (p.Leu3020Pro) rs757148837 0.00002
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly) rs893497345 0.00002
NM_138694.4(PKHD1):c.931A>G (p.Thr311Ala) rs890884615 0.00002
NM_139125.4(MASP1):c.1576C>T (p.Arg526Ter) rs377074720 0.00002
NM_145649.5(GCNT2):c.1154G>A (p.Arg385His) rs55940927 0.00002
NM_147196.3(TMIE):c.211+5G>A rs375470385 0.00002
NM_152618.3(BBS12):c.2020C>T (p.Arg674Cys) rs759088490 0.00002
NM_152783.5(D2HGDH):c.1255C>T (p.Arg419Cys) rs769832110 0.00002
NM_153033.5(KCTD7):c.458G>A (p.Arg153His) rs765235486 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_170707.4(LMNA):c.647G>A (p.Arg216His) rs757041809 0.00002
NM_173842.3(IL1RN):c.63A>G (p.Ser21=) rs763872895 0.00002
NM_175914.5(HNF4A):c.658G>A (p.Val220Met) rs202105574 0.00002
NM_176787.5(PIGN):c.787C>A (p.His263Asn) rs376934090 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp) rs139300604 0.00002
NM_203290.4(POLR1C):c.322C>T (p.His108Tyr) rs1015942660 0.00002
NM_206933.4(USH2A):c.15178T>C (p.Ser5060Pro) rs752377040 0.00002
NM_206933.4(USH2A):c.15520-1G>A rs767265734 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_206933.4(USH2A):c.7871C>T (p.Pro2624Leu) rs748455430 0.00002
NM_206933.4(USH2A):c.9921T>G (p.Cys3307Trp) rs1057519382 0.00002
NM_207346.3(TSEN54):c.370-2A>G rs762922379 0.00002
NR_003051.4(RMRP):n.16G>T rs902313238 0.00002
NC_000011.10:g.47335872C>T rs398123280 0.00001
NC_000011.10:g.47342825C>T rs727503202 0.00001
NC_000017.11:g.4903159G>A rs748144899 0.00001
NC_000019.10:g.11089429C>T rs875989886 0.00001
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.1257C>A (p.Tyr419Ter) rs753928772 0.00001
NM_000016.6(ACADM):c.253G>T (p.Gly85Cys) rs398123075 0.00001
NM_000016.6(ACADM):c.296G>T (p.Gly99Val) rs370608001 0.00001
NM_000016.6(ACADM):c.395C>G (p.Pro132Arg) rs875989854 0.00001
NM_000016.6(ACADM):c.447G>T (p.Met149Ile) rs121434277 0.00001
NM_000016.6(ACADM):c.503A>C (p.Asp168Ala) rs745844469 0.00001
NM_000016.6(ACADM):c.599+5G>A rs875989861 0.00001
NM_000016.6(ACADM):c.661G>A (p.Gly221Arg) rs753627680 0.00001
NM_000016.6(ACADM):c.728G>A (p.Arg243Gln) rs373852490 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NM_000017.4(ACADS):c.107dup (p.Thr37fs) rs750941135 0.00001
NM_000017.4(ACADS):c.1112G>T (p.Gly371Val) rs796051905 0.00001
NM_000017.4(ACADS):c.1130C>T (p.Pro377Leu) rs183161718 0.00001
NM_000017.4(ACADS):c.326_328del (p.Cys109_Ala110delinsSer) rs1346829948 0.00001
NM_000017.4(ACADS):c.578C>T (p.Ser193Leu) rs369167716 0.00001
NM_000017.4(ACADS):c.820G>A (p.Gly274Ser) rs746368198 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1013A>G (p.Asn338Ser) rs956279629 0.00001
NM_000018.4(ACADVL):c.1045G>A (p.Ala349Thr) rs1567565733 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1183-15A>G rs765390290 0.00001
NM_000018.4(ACADVL):c.1198G>A (p.Val400Met) rs149116708 0.00001
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro) rs1384021857 0.00001
NM_000018.4(ACADVL):c.1269G>A (p.Ser423=) rs765356942 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.374T>C (p.Leu125Pro) rs1416443472 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.622G>A (p.Gly208Arg) rs748329498 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.782T>C (p.Val261Ala) rs756069599 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.881G>A (p.Gly294Glu) rs200573371 0.00001
NM_000018.4(ACADVL):c.899T>G (p.Met300Arg) rs142765230 0.00001
NM_000019.4(ACAT1):c.1167G>A (p.Met389Ile) rs377295639 0.00001
NM_000019.4(ACAT1):c.1199A>G (p.His400Arg) rs761086326 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095 0.00001
NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp) rs999380946 0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000023.4(SGCA):c.190G>A (p.Ala64Thr) rs759692350 0.00001
NM_000023.4(SGCA):c.289G>C (p.Asp97His) rs774299871 0.00001
NM_000023.4(SGCA):c.502G>A (p.Gly168Arg) rs199810179 0.00001
NM_000023.4(SGCA):c.661C>T (p.Arg221Cys) rs748936034 0.00001
NM_000023.4(SGCA):c.851G>A (p.Arg284His) rs369359375 0.00001
NM_000023.4(SGCA):c.957-11C>G rs1391089933 0.00001
NM_000026.4(ADSL):c.1027G>A (p.Glu343Lys) rs774159147 0.00001
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000027.4(AGA):c.770C>T (p.Thr257Ile) rs386833434 0.00001
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn) rs886055840 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1937C>T (p.Ala646Val) rs1258368672 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000038.6(APC):c.3083G>T (p.Ser1028Ile) rs1114167617 0.00001
NM_000045.4(ARG1):c.295G>A (p.Gly99Arg) rs753829097 0.00001
NM_000045.4(ARG1):c.425G>A (p.Gly142Glu) rs767219084 0.00001
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser) rs1465993279 0.00001
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp) rs1064793027 0.00001
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu) rs1271212818 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000046.5(ARSB):c.275C>T (p.Thr92Met) rs751010538 0.00001
NM_000046.5(ARSB):c.312G>C (p.Gln104His) rs1478202079 0.00001
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg) rs1554087999 0.00001
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu) rs1280123243 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1136G>A (p.Arg379His) rs200853731 0.00001
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg) rs1301059768 0.00001
NM_000048.4(ASL):c.1154G>A (p.Arg385His) rs746120802 0.00001
NM_000048.4(ASL):c.133T>A (p.Tyr45Asn) rs771012029 0.00001
NM_000048.4(ASL):c.281G>A (p.Arg94His) rs777437569 0.00001
NM_000048.4(ASL):c.332G>A (p.Arg111Gln) rs561367199 0.00001
NM_000048.4(ASL):c.377G>A (p.Arg126Gln) rs777235530 0.00001
NM_000048.4(ASL):c.507G>C (p.Trp169Cys) rs759952363 0.00001
NM_000048.4(ASL):c.722A>C (p.Glu241Ala) rs924321091 0.00001
NM_000048.4(ASL):c.772G>A (p.Glu258Lys) rs909358635 0.00001
NM_000048.4(ASL):c.890G>A (p.Arg297Gln) rs750431938 0.00001
NM_000048.4(ASL):c.91G>A (p.Asp31Asn) rs754995756 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.539G>T (p.Gly180Val) rs1014551540 0.00001
NM_000049.4(ASPA):c.634+1G>T rs753871454 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000049.4(ASPA):c.838C>T (p.Pro280Ser) rs750505963 0.00001
NM_000051.4(ATM):c.1695A>G (p.Glu565=) rs780932013 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.2376+3A>T rs758083563 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr) rs876660628 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro) rs786203306 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro) rs747800057 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.7307+3_7307+4insGTTC rs587782288 0.00001
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln) rs587782310 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg) rs587782692 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys) rs767670019 0.00001
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile) rs1315805984 0.00001
NM_000053.4(ATP7B):c.1946+6T>C rs751287778 0.00001
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756 0.00001
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110 0.00001
NM_000053.4(ATP7B):c.2267C>T (p.Ala756Val) rs769927137 0.00001
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339 0.00001
NM_000053.4(ATP7B):c.2355+4A>G rs776572343 0.00001
NM_000053.4(ATP7B):c.2518C>A (p.Pro840Thr) rs1017756733 0.00001
NM_000053.4(ATP7B):c.2606G>A (p.Gly869Glu) rs775553302 0.00001
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994 0.00001
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495 0.00001
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 0.00001
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309 0.00001
NM_000053.4(ATP7B):c.3221C>T (p.Ala1074Val) rs1206016866 0.00001
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr) rs755817220 0.00001
NM_000053.4(ATP7B):c.3716T>G (p.Val1239Gly) rs374628199 0.00001
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491 0.00001
NM_000053.4(ATP7B):c.3842G>A (p.Gly1281Asp) rs755202606 0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys) rs776300396 0.00001
NM_000053.4(ATP7B):c.3914T>C (p.Leu1305Pro) rs377144951 0.00001
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr) rs548512104 0.00001
NM_000053.4(ATP7B):c.4077G>T (p.Met1359Ile) rs759551693 0.00001
NM_000053.4(ATP7B):c.4088C>G (p.Ser1363Cys) rs776848753 0.00001
NM_000053.4(ATP7B):c.44del (p.Ser15fs) rs1192728612 0.00001
NM_000053.4(ATP7B):c.52-1G>T rs1057517351 0.00001
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile) rs121918557 0.00001
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085 0.00001
NM_000057.4(BLM):c.2407T>C (p.Trp803Arg) rs148394770 0.00001
NM_000057.4(BLM):c.3163T>C (p.Cys1055Arg) rs746218707 0.00001
NM_000057.4(BLM):c.3875-2A>G rs150421256 0.00001
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) rs397507713 0.00001
NM_000059.4(BRCA2):c.632-3C>G rs568027879 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys) rs80359064 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076 0.00001
NM_000059.4(BRCA2):c.8377G>A (p.Gly2793Arg) rs80359082 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His) rs1157720606 0.00001
NM_000069.3(CACNA1S):c.3414+3A>T rs892742196 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00001
NM_000070.3(CAPN3):c.1069C>T (p.Arg357Trp) rs774273767 0.00001
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln) rs988027905 0.00001
NM_000070.3(CAPN3):c.1257T>G (p.Asp419Glu) rs139836397 0.00001
NM_000070.3(CAPN3):c.1636C>T (p.Arg546Cys) rs372438001 0.00001
NM_000070.3(CAPN3):c.1696G>A (p.Glu566Lys) rs747819910 0.00001
NM_000070.3(CAPN3):c.264T>G (p.Phe88Leu) rs760626912 0.00001
NM_000070.3(CAPN3):c.371G>C (p.Gly124Ala) rs587780291 0.00001
NM_000070.3(CAPN3):c.608C>T (p.Ala203Val) rs763719290 0.00001
NM_000070.3(CAPN3):c.633G>C (p.Lys211Asn) rs779701414 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn) rs758447354 0.00001
NM_000077.5(CDKN2A):c.104G>C (p.Gly35Ala) rs746834149 0.00001
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr) rs779169597 0.00001
NM_000081.4(LYST):c.7780+2C>T rs760108842 0.00001
NM_000083.3(CLCN1):c.1064G>A (p.Gly355Glu) rs1282349760 0.00001
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000083.3(CLCN1):c.1262G>A (p.Arg421His) rs780834658 0.00001
NM_000083.3(CLCN1):c.1399A>G (p.Lys467Glu) rs149892539 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000083.3(CLCN1):c.895G>C (p.Val299Leu) rs202179484 0.00001
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000090.4(COL3A1):c.4254+3A>G rs376799861 0.00001
NM_000091.5(COL4A3):c.1270G>T (p.Gly424Cys) rs776919202 0.00001
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser) rs778034451 0.00001
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg) rs202147112 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.361G>A (p.Gly121Ser) rs778886174 0.00001
NM_000091.5(COL4A3):c.4351C>G (p.His1451Asp) rs1291948462 0.00001
NM_000091.5(COL4A3):c.441G>A (p.Pro147=) rs373559251 0.00001
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val) rs775373641 0.00001
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg) rs752452590 0.00001
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln) rs1380878336 0.00001
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg) rs1014839148 0.00001
NM_000091.5(COL4A3):c.765G>A (p.Thr255=) rs869025328 0.00001
NM_000092.5(COL4A4):c.1118G>A (p.Gly373Glu) rs755649235 0.00001
NM_000092.5(COL4A4):c.1360G>A (p.Gly454Arg) rs1319908269 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000092.5(COL4A4):c.2182G>A (p.Gly728Arg) rs202243658 0.00001
NM_000092.5(COL4A4):c.2312G>A (p.Gly771Glu) rs781660254 0.00001
NM_000092.5(COL4A4):c.2392G>A (p.Gly798Ser) rs760803228 0.00001
NM_000092.5(COL4A4):c.3317G>A (p.Gly1106Asp) rs1559482299 0.00001
NM_000092.5(COL4A4):c.3452G>C (p.Gly1151Ala) rs371803356 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.4288G>A (p.Gly1430Arg) rs775926807 0.00001
NM_000092.5(COL4A4):c.5044C>T (p.Arg1682Trp) rs766550724 0.00001
NM_000092.5(COL4A4):c.817G>T (p.Gly273Cys) rs762043158 0.00001
NM_000093.5(COL5A1):c.2818G>A (p.Gly940Ser) rs1131691874 0.00001
NM_000093.5(COL5A1):c.406C>T (p.Pro136Ser) rs777625241 0.00001
NM_000094.4(COL7A1):c.5096C>T (p.Pro1699Leu) rs121912845 0.00001
NM_000094.4(COL7A1):c.6395G>A (p.Gly2132Asp) rs755669902 0.00001
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu) rs1233025207 0.00001
NM_000094.4(COL7A1):c.8234G>A (p.Arg2745Gln) rs377182638 0.00001
NM_000095.3(COMP):c.762+1G>A rs755374221 0.00001
NM_000097.7(CPOX):c.1171C>T (p.Arg391Trp) rs375923779 0.00001
NM_000098.3(CPT2):c.1115A>G (p.His372Arg) rs1212235186 0.00001
NM_000098.3(CPT2):c.461A>G (p.Asn154Ser) rs772269793 0.00001
NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) rs756839691 0.00001
NM_000098.3(CPT2):c.674G>A (p.Arg225His) rs794727616 0.00001
NM_000100.4(CSTB):c.1_2insAT (p.Met1fs) rs1044894207 0.00001
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys) rs72549307 0.00001
NM_000110.4(DPYD):c.704G>A (p.Arg235Gln) rs755416212 0.00001
NM_000111.3(SLC26A3):c.1136G>C (p.Gly379Ala) rs386833446 0.00001
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg) rs899478069 0.00001
NM_000124.4(ERCC6):c.1398-2A>G rs1317145066 0.00001
NM_000124.4(ERCC6):c.814G>A (p.Glu272Lys) rs768589918 0.00001
NM_000126.4(ETFA):c.2T>C (p.Met1Thr) rs727503918 0.00001
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000132.4(F8):c.1835G>A (p.Arg612His) rs782473762 0.00001
NM_000132.4(F8):c.599A>G (p.Glu200Gly) rs782158761 0.00001
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser) rs200433372 0.00001
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg) rs782198570 0.00001
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro) rs1490352414 0.00001
NM_000135.4(FANCA):c.3G>T (p.Met1Ile) rs1555581729 0.00001
NM_000137.4(FAH):c.81+2T>A rs772895065 0.00001
NM_000138.5(FBN1):c.1030C>T (p.Arg344Cys) rs752010116 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.3931T>A (p.Tyr1311Asn) rs1406315227 0.00001
NM_000138.5(FBN1):c.5086T>C (p.Tyr1696His) rs373320952 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000138.5(FBN1):c.6724C>T (p.Arg2242Cys) rs779749926 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 0.00001
NM_000142.5(FGFR3):c.1618A>G (p.Asn540Asp) rs1057519049 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000143.4(FH):c.1204C>T (p.His402Tyr) rs760360724 0.00001
NM_000143.4(FH):c.1301G>A (p.Cys434Tyr) rs398123164 0.00001
NM_000143.4(FH):c.151C>T (p.Arg51Trp) rs778678782 0.00001
NM_000143.4(FH):c.194A>G (p.Asp65Gly) rs145116688 0.00001
NM_000143.4(FH):c.1A>G (p.Met1Val) rs776806414 0.00001
NM_000143.4(FH):c.203A>G (p.Tyr68Cys) rs1472397242 0.00001
NM_000143.4(FH):c.208G>A (p.Ala70Thr) rs587782207 0.00001
NM_000143.4(FH):c.222A>T (p.Arg74Ser) rs146739519 0.00001
NM_000143.4(FH):c.405T>G (p.His135Gln) rs1298815479 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000143.4(FH):c.908T>C (p.Leu303Ser) rs201502246 0.00001
NM_000143.4(FH):c.923C>G (p.Ala308Gly) rs1057524385 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr) rs886052955 0.00001
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala) rs515726229 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe) rs886043148 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln) rs577042191 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.265C>T (p.Arg89Cys) rs534192892 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.2846T>A (p.Val949Asp) rs1245412108 0.00001
NM_000152.5(GAA):c.316C>T (p.Arg106Cys) rs915675670 0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854 0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met) rs752054011 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro) rs1200769534 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.1898C>T (p.Thr633Met) rs766762599 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_000153.4(GALC):c.673G>A (p.Ala225Thr) rs1436074042 0.00001
NM_000153.4(GALC):c.927A>C (p.Leu309Phe) rs758904079 0.00001
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg) rs1214866139 0.00001
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys) rs1363497653 0.00001
NM_000154.2(GALK1):c.841G>A (p.Val281Met) rs753571180 0.00001
NM_000154.2(GALK1):c.919_921del (p.Met307del) rs1247635972 0.00001
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys) rs111033806 0.00001
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp) rs111033666 0.00001
NM_000155.4(GALT):c.590A>G (p.Asp197Gly) rs1554709359 0.00001
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355 0.00001
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736 0.00001
NM_000155.4(GALT):c.772C>T (p.Arg258Cys) rs368166217 0.00001
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766 0.00001
NM_000155.4(GALT):c.883C>A (p.Pro295Thr) rs111033783 0.00001
NM_000155.4(GALT):c.961C>T (p.His321Tyr) rs367543266 0.00001
NM_000156.6(GAMT):c.224C>T (p.Ala75Val) rs1441030187 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000157.4(GBA1):c.593C>T (p.Pro198Leu) rs80222298 0.00001
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys) rs780431086 0.00001
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg) rs771405370 0.00001
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu) rs758786811 0.00001
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu) rs777589783 0.00001
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.721A>G (p.Met241Val) rs747155575 0.00001
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys) rs137852893 0.00001
NM_000159.4(GCDH):c.1189G>A (p.Glu397Lys) rs1555751336 0.00001
NM_000159.4(GCDH):c.1286C>T (p.Thr429Met) rs745360675 0.00001
NM_000159.4(GCDH):c.368A>G (p.Tyr123Cys) rs780976048 0.00001
NM_000159.4(GCDH):c.479A>G (p.Gln160Arg) rs1176799813 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser) rs751742575 0.00001
NM_000159.4(GCDH):c.852+5G>A rs886054243 0.00001
NM_000159.4(GCDH):c.910G>A (p.Ala304Thr) rs373203481 0.00001
NM_000162.5(GCK):c.1364T>A (p.Val455Glu) rs753795627 0.00001
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311 0.00001
NM_000162.5(GCK):c.755G>T (p.Cys252Phe) rs1372204515 0.00001
NM_000162.5(GCK):c.757G>A (p.Val253Ile) rs748964205 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000163.5(GHR):c.504T>G (p.His168Gln) rs121909373 0.00001
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln) rs962041031 0.00001
NM_000166.6(GJB1):c.14G>T (p.Gly5Val) rs1064793139 0.00001
NM_000166.6(GJB1):c.268C>T (p.Leu90Phe) rs1299325261 0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663 0.00001
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly) rs869312162 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.596T>C (p.Val199Ala) rs781871113 0.00001
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00001
NM_000169.3(GLA):c.870G>C (p.Met290Ile) rs869312438 0.00001
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp) rs150171524 0.00001
NM_000170.3(GLDC):c.1525C>G (p.Pro509Ala) rs557412758 0.00001
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg) rs765384489 0.00001
NM_000170.3(GLDC):c.1759C>G (p.Gln587Glu) rs1296797567 0.00001
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys) rs386833544 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro) rs386833571 0.00001
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp) rs772574530 0.00001
NM_000170.3(GLDC):c.2963G>A (p.Arg988Gln) rs749512886 0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro) rs1356375715 0.00001
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala) rs1554648117 0.00001
NM_000178.4(GSS):c.754C>T (p.Arg252Ter) rs749741013 0.00001
NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys) rs1060502934 0.00001
NM_000179.3(MSH6):c.2972C>T (p.Pro991Leu) rs375966384 0.00001
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His) rs779617676 0.00001
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn) rs587779272 0.00001
NM_000179.3(MSH6):c.3601C>G (p.Leu1201Val) rs182024561 0.00001
NM_000179.3(MSH6):c.3724C>A (p.Arg1242Ser) rs587779285 0.00001
NM_000179.3(MSH6):c.3725G>T (p.Arg1242Leu) rs63750119 0.00001
NM_000179.3(MSH6):c.4053_4081dup (p.*1361Leuext*3) rs2104583584 0.00001
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu) rs878853343 0.00001
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn) rs398123234 0.00001
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp) rs121918176 0.00001
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774 0.00001
NM_000183.3(HADHB):c.1148C>T (p.Ser383Leu) rs144711755 0.00001
NM_000183.3(HADHB):c.998C>T (p.Pro333Leu) rs770736746 0.00001
NM_000187.4(HGD):c.473C>T (p.Pro158Leu) rs375396766 0.00001
NM_000187.4(HGD):c.587C>T (p.Thr196Ile) rs781491692 0.00001
NM_000191.3(HMGCL):c.497+4A>G rs568718845 0.00001
NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg) rs757884073 0.00001
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met) rs767649680 0.00001
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr) rs1057521146 0.00001
NM_000199.5(SGSH):c.416C>T (p.Thr139Met) rs775112689 0.00001
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp) rs1479831530 0.00001
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr) rs1329133410 0.00001
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn) rs1046551417 0.00001
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu) rs745884647 0.00001
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg) rs398123246 0.00001
NM_000202.8(IDS):c.1477C>T (p.Arg493Cys) rs782190885 0.00001
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys) rs794727896 0.00001
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg) rs1715216061 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000204.5(CFI):c.1025G>A (p.Gly342Glu) rs1312234258 0.00001
NM_000204.5(CFI):c.1A>G (p.Met1Val) rs770655669 0.00001
NM_000204.5(CFI):c.452A>G (p.Asn151Ser) rs772044176 0.00001
NM_000212.3(ITGB3):c.31T>C (p.Trp11Arg) rs1022839092 0.00001
NM_000212.3(ITGB3):c.353T>A (p.Leu118His) rs368325996 0.00001
NM_000212.3(ITGB3):c.355C>T (p.Arg119Trp) rs781062792 0.00001
NM_000212.3(ITGB3):c.778-2A>G rs749261962 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 0.00001
NM_000215.4(JAK3):c.2323C>T (p.Arg775Cys) rs200624610 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) rs368507376 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg) rs1337409061 0.00001
NM_000218.3(KCNQ1):c.386+16231G>A rs1490391959 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro) rs780236727 0.00001
NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe) rs794728514 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000234.3(LIG1):c.2311C>T (p.Arg771Trp) rs121434561 0.00001
NM_000235.4(LIPA):c.1070T>C (p.Leu357Pro) rs772684869 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.188C>A (p.Pro63His) rs766379103 0.00001
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His) rs758751607 0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys) rs190705322 0.00001
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser) rs104895128 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala) rs63749909 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000249.4(MLH1):c.492A>C (p.Lys164Asn) rs765014361 0.00001
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln) rs759263820 0.00001
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp) rs587779162 0.00001
NM_000255.4(MMUT):c.295A>G (p.Met99Val) rs1467385866 0.00001
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) rs950211877 0.00001
NM_000256.3(MYBPC3):c.1080G>C (p.Lys360Asn) rs730880632 0.00001
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314 0.00001
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val) rs730880694 0.00001
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 0.00001
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185 0.00001
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000256.3(MYBPC3):c.926+1G>A rs767239679 0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000257.4(MYH7):c.1315A>T (p.Met439Leu) rs370310929 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.160C>T (p.Arg54Ter) rs761841748 0.00001
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala) rs397516119 0.00001
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn) rs564101364 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.2063del (p.Leu688fs) rs888930078 0.00001
NM_000257.4(MYH7):c.2135G>T (p.Arg712Leu) rs1224554825 0.00001
NM_000257.4(MYH7):c.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.3094G>A (p.Asp1032Asn) rs730880765 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388 0.00001
NM_000257.4(MYH7):c.3349G>T (p.Glu1117Ter) rs141735183 0.00001
NM_000257.4(MYH7):c.343T>C (p.Tyr115His) rs397516183 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.445G>A (p.Glu149Lys) rs773740053 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686 0.00001
NM_000257.4(MYH7):c.5530G>A (p.Glu1844Lys) rs730880821 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys) rs397516259 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000258.3(MYL3):c.193C>T (p.Pro65Ser) rs730880960 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000260.4(MYO7A):c.1208A>G (p.Tyr403Cys) rs797044511 0.00001
NM_000260.4(MYO7A):c.1669A>G (p.Ile557Val) rs1282033456 0.00001
NM_000260.4(MYO7A):c.2558G>A (p.Arg853His) rs111033437 0.00001
NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) rs757460257 0.00001
NM_000260.4(MYO7A):c.5177C>T (p.Pro1726Leu) rs1478464275 0.00001
NM_000260.4(MYO7A):c.5507T>C (p.Leu1836Pro) rs1164918878 0.00001
NM_000260.4(MYO7A):c.5510T>C (p.Leu1837Pro) rs1385324903 0.00001
NM_000260.4(MYO7A):c.5804T>C (p.Leu1935Pro) rs397516323 0.00001
NM_000260.4(MYO7A):c.6356A>G (p.Gln2119Arg) rs1029122324 0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852 0.00001
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys) rs199729746 0.00001
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His) rs1555621454 0.00001
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg) rs1358994052 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000264.5(PTCH1):c.395-1G>A rs368869806 0.00001
NM_000271.5(NPC1):c.1070C>T (p.Ser357Leu) rs1555637232 0.00001
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys) rs1053321823 0.00001
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659 0.00001
NM_000271.5(NPC1):c.1947+5G>C rs770321568 0.00001
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn) rs1428599096 0.00001
NM_000271.5(NPC1):c.2849T>G (p.Val950Gly) rs1057517978 0.00001
NM_000271.5(NPC1):c.2933G>A (p.Arg978His) rs752728865 0.00001
NM_000271.5(NPC1):c.2956G>A (p.Gly986Ser) rs1364834942 0.00001
NM_000271.5(NPC1):c.3745A>G (p.Ser1249Gly) rs1415921261 0.00001
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142 0.00001
NM_000271.5(NPC1):c.743G>T (p.Gly248Val) rs1230538609 0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys) rs121965048 0.00001
NM_000274.4(OAT):c.416T>G (p.Met139Arg) rs1043163922 0.00001
NM_000274.4(OAT):c.461G>A (p.Arg154His) rs121965039 0.00001
NM_000274.4(OAT):c.698A>G (p.Gln233Arg) rs386833615 0.00001
NM_000275.3(OCA2):c.1045-9T>G rs755604671 0.00001
NM_000275.3(OCA2):c.1178G>T (p.Gly393Val) rs749661379 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1875A>C (p.Lys625Asn) rs1455447337 0.00001
NM_000275.3(OCA2):c.2035T>C (p.Trp679Arg) rs751822606 0.00001
NM_000275.3(OCA2):c.2079G>A (p.Glu693=) rs1374558186 0.00001
NM_000275.3(OCA2):c.2330G>A (p.Cys777Tyr) rs776814755 0.00001
NM_000275.3(OCA2):c.535A>G (p.Lys179Glu) rs1277911369 0.00001
NM_000275.3(OCA2):c.572C>T (p.Ser191Phe) rs1158730024 0.00001
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831 0.00001
NM_000277.3(PAH):c.1124A>G (p.Gln375Arg) rs1874694173 0.00001
NM_000277.3(PAH):c.1330C>T (p.Leu444Phe) rs1402168594 0.00001
NM_000277.3(PAH):c.161T>C (p.Leu54Ser) rs199475677 0.00001
NM_000277.3(PAH):c.169G>A (p.Glu57Lys) rs140945592 0.00001
NM_000277.3(PAH):c.212G>A (p.Arg71His) rs62508695 0.00001
NM_000277.3(PAH):c.442G>A (p.Gly148Ser) rs80297647 0.00001
NM_000277.3(PAH):c.511G>A (p.Gly171Arg) rs199475613 0.00001
NM_000277.3(PAH):c.559T>C (p.Trp187Arg) rs62507272 0.00001
NM_000277.3(PAH):c.712A>C (p.Thr238Pro) rs199475577 0.00001
NM_000277.3(PAH):c.737C>T (p.Ala246Val) rs199475610 0.00001
NM_000277.3(PAH):c.811C>T (p.His271Tyr) rs62517164 0.00001
NM_000277.3(PAH):c.828G>A (p.Met276Ile) rs62514954 0.00001
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del) rs937519016 0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=) rs192171304 0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys) rs999241357 0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln) rs1387778734 0.00001
NM_000282.4(PCCA):c.2dup (p.Met1fs) rs1179536678 0.00001
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925 0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys) rs778530330 0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg) rs1444049793 0.00001
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met) rs761619791 0.00001
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000287.4(PEX6):c.1231A>G (p.Met411Val) rs752177240 0.00001
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp) rs267608246 0.00001
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln) rs187131358 0.00001
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr) rs137852534 0.00001
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val) rs367696431 0.00001
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro) rs121918022 0.00001
NM_000293.3(PHKB):c.76+2T>C rs1303617854 0.00001
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys) rs752961445 0.00001
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter) rs560414449 0.00001
NM_000295.5(SERPINA1):c.115C>A (p.His39Asn) rs138070585 0.00001
NM_000295.5(SERPINA1):c.745G>C (p.Gly249Arg) rs764220898 0.00001
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr) rs1358047518 0.00001
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) rs768002493 0.00001
NM_000298.6(PKLR):c.1493G>A (p.Arg498His) rs758327704 0.00001
NM_000298.6(PKLR):c.187G>A (p.Ala63Thr) rs1165604977 0.00001
NM_000302.4(PLOD1):c.1095C>T (p.Gly365=) rs1032781250 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=) rs115344041 0.00001
NM_000303.3(PMM2):c.28C>T (p.Leu10Phe) rs1215262242 0.00001
NM_000303.3(PMM2):c.305A>G (p.Tyr102Cys) rs1187245939 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.531G>C (p.Gln177His) rs771162235 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000306.4(POU1F1):c.143-2A>G rs746709336 0.00001
NM_000310.4(PPT1):c.272A>C (p.Gln91Pro) rs386833639 0.00001
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg) rs369186379 0.00001
NM_000310.4(PPT1):c.722C>T (p.Ser241Leu) rs746043871 0.00001
NM_000312.4(PROC):c.1000G>A (p.Gly334Ser) rs121918150 0.00001
NM_000312.4(PROC):c.1106C>T (p.Pro369Leu) rs1211098698 0.00001
NM_000312.4(PROC):c.811C>T (p.Arg271Trp) rs767112991 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000317.3(PTS):c.46C>T (p.Arg16Cys) rs104894274 0.00001
NM_000317.3(PTS):c.95G>A (p.Ser32Asn) rs374871539 0.00001
NM_000321.3(RB1):c.1206C>T (p.Ser402=) rs752679968 0.00001
NM_000322.5(PRPH2):c.374C>T (p.Ser125Leu) rs772861671 0.00001
NM_000322.5(PRPH2):c.649A>G (p.Ser217Gly) rs767471467 0.00001
NM_000329.3(RPE65):c.124C>T (p.Leu42Phe) rs750724065 0.00001
NM_000329.3(RPE65):c.302C>T (p.Thr101Ile) rs1444234037 0.00001
NM_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 0.00001
NM_000334.4(SCN4A):c.1333G>C (p.Val445Leu) rs121908552 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=) rs1204915217 0.00001
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864 0.00001
NM_000335.5(SCN5A):c.2441G>A (p.Arg814Gln) rs199473584 0.00001
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys) rs199473171 0.00001
NM_000335.5(SCN5A):c.2678G>A (p.Arg893His) rs199473172 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2911C>T (p.Arg971Cys) rs61737825 0.00001
NM_000335.5(SCN5A):c.3148G>A (p.Ala1050Thr) rs1373296470 0.00001
NM_000335.5(SCN5A):c.3553G>A (p.Ala1185Thr) rs199473595 0.00001
NM_000335.5(SCN5A):c.3647T>G (p.Leu1216Arg) rs794728876 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.4129G>A (p.Val1377Met) rs748312802 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4716C>T (p.Gly1572=) rs754221948 0.00001
NM_000335.5(SCN5A):c.4744C>T (p.Arg1582Cys) rs45514691 0.00001
NM_000335.5(SCN5A):c.4873C>T (p.Arg1625Cys) rs918933961 0.00001
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897 0.00001
NM_000335.5(SCN5A):c.5737A>G (p.Arg1913Gly) rs766751878 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000335.5(SCN5A):c.656G>A (p.Arg219His) rs878855296 0.00001
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln) rs199473071 0.00001
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro) rs760011764 0.00001
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr) rs199473073 0.00001
NM_000350.3(ABCA4):c.1528C>A (p.Leu510Ile) rs758584771 0.00001
NM_000350.3(ABCA4):c.185C>T (p.Pro62Leu) rs1057520211 0.00001
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln) rs761380652 0.00001
NM_000350.3(ABCA4):c.2401G>A (p.Ala801Thr) rs374410829 0.00001
NM_000350.3(ABCA4):c.2560G>A (p.Ala854Thr) rs61749437 0.00001
NM_000350.3(ABCA4):c.2608C>T (p.Pro870Ser) rs867875828 0.00001
NM_000350.3(ABCA4):c.2919-10T>C rs886044733 0.00001
NM_000350.3(ABCA4):c.2942C>T (p.Pro981Leu) rs147826775 0.00001
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln) rs752000268 0.00001
NM_000350.3(ABCA4):c.3194G>A (p.Gly1065Asp) rs886039300 0.00001
NM_000350.3(ABCA4):c.3206A>G (p.Lys1069Arg) rs775661924 0.00001
NM_000350.3(ABCA4):c.3218C>T (p.Ala1073Val) rs754788289 0.00001
NM_000350.3(ABCA4):c.3293G>A (p.Arg1098His) rs891533398 0.00001
NM_000350.3(ABCA4):c.4124C>T (p.Ala1375Val) rs1267585230 0.00001
NM_000350.3(ABCA4):c.4363T>C (p.Cys1455Arg) rs758835368 0.00001
NM_000350.3(ABCA4):c.4667G>C (p.Arg1556Thr) rs1385119665 0.00001
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg) rs61753017 0.00001
NM_000350.3(ABCA4):c.4978C>T (p.Pro1660Ser) rs1211325812 0.00001
NM_000350.3(ABCA4):c.5836-3C>A rs1064793013 0.00001
NM_000350.3(ABCA4):c.599T>C (p.Leu200Pro) rs1662215591 0.00001
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp) rs781716640 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.2556+1G>A rs749271190 0.00001
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr) rs1266053680 0.00001
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val) rs772094360 0.00001
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val) rs776100468 0.00001
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys) rs1468762603 0.00001
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile) rs768017509 0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg) rs1201126343 0.00001
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln) rs775488556 0.00001
NM_000353.3(TAT):c.355C>T (p.Arg119Trp) rs758306831 0.00001
NM_000359.3(TGM1):c.1025G>T (p.Trp342Leu) rs1490454727 0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.1121A>G (p.Tyr374Cys) rs2040782954 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000359.3(TGM1):c.2290C>T (p.Arg764Cys) rs201853046 0.00001
NM_000359.3(TGM1):c.430G>A (p.Gly144Arg) rs778635368 0.00001
NM_000359.3(TGM1):c.431G>A (p.Gly144Glu) rs1465243895 0.00001
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln) rs781006633 0.00001
NM_000359.3(TGM1):c.871G>A (p.Gly291Ser) rs1437822062 0.00001
NM_000360.4(TH):c.2T>C (p.Met1Thr) rs201932766 0.00001
NM_000360.4(TH):c.604C>T (p.Arg202Cys) rs1021029193 0.00001
NM_000363.5(TNNI3):c.11+1G>T rs2085744080 0.00001
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp) rs730881071 0.00001
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn) rs397516348 0.00001
NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter) rs1057521530 0.00001
NM_000369.5(TSHR):c.122G>C (p.Cys41Ser) rs121908869 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000372.5(TYR):c.149C>T (p.Ser50Leu) rs61753181 0.00001
NM_000372.5(TYR):c.238T>C (p.Trp80Arg) rs61753188 0.00001
NM_000372.5(TYR):c.864A>T (p.Leu288Phe) rs371985121 0.00001
NM_000383.4(AIRE):c.173C>A (p.Ala58Asp) rs747941115 0.00001
NM_000383.4(AIRE):c.22C>T (p.Arg8Cys) rs1231469574 0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000387.6(SLC25A20):c.536A>G (p.Asp179Gly) rs1205051168 0.00001
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg) rs1064794291 0.00001
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp) rs751217000 0.00001
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln) rs765380155 0.00001
NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys) rs1035033641 0.00001
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala) rs756530648 0.00001
NM_000391.4(TPP1):c.1439T>G (p.Val480Gly) rs1192702664 0.00001
NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs) rs772673105 0.00001
NM_000393.5(COL5A2):c.2104G>A (p.Gly702Arg) rs772811492 0.00001
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg) rs750609110 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr) rs1411740455 0.00001
NM_000404.4(GLB1):c.1438A>G (p.Met480Val) rs1280400930 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000407.5(GP1BB):c.340C>T (p.Arg114Cys) rs587783648 0.00001
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter) rs771510541 0.00001
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln) rs773024366 0.00001
NM_000419.5(ITGA2B):c.1210+105A>G rs992856733 0.00001
NM_000419.5(ITGA2B):c.408G>C (p.Val136=) rs1400938437 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.3556-13T>A rs775278003 0.00001
NM_000429.3(MAT1A):c.1006G>A (p.Gly336Arg) rs118204006 0.00001
NM_000429.3(MAT1A):c.875G>A (p.Arg292His) rs781774786 0.00001
NM_000431.4(MVK):c.1006G>A (p.Gly336Ser) rs104895358 0.00001
NM_000431.4(MVK):c.721C>T (p.Arg241Cys) rs758427037 0.00001
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) rs863225117 0.00001
NM_000434.4(NEU1):c.869G>A (p.Arg290Gln) rs758877243 0.00001
NM_000435.3(NOTCH3):c.2038C>T (p.Arg680Cys) rs1250956327 0.00001
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys) rs1057519101 0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr) rs1266914122 0.00001
NM_000439.5(PCSK1):c.1625A>G (p.Asp542Gly) rs1327701164 0.00001
NM_000440.3(PDE6A):c.1620G>A (p.Glu540=) rs727504072 0.00001
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys) rs148425972 0.00001
NM_000441.2(SLC26A4):c.1160C>A (p.Ala387Asp) rs777333979 0.00001
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly) rs1057520369 0.00001
NM_000441.2(SLC26A4):c.1445G>C (p.Trp482Ser) rs774182356 0.00001
NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val) rs397516424 0.00001
NM_000441.2(SLC26A4):c.2003T>C (p.Leu668Pro) rs727504303 0.00001
NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile) rs1481765326 0.00001
NM_000441.2(SLC26A4):c.765+5G>A rs947864801 0.00001
NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr) rs111033454 0.00001
NM_000441.2(SLC26A4):c.918+2T>C rs912147281 0.00001
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu) rs886894962 0.00001
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala) rs779885518 0.00001
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys) rs757931203 0.00001
NM_000444.6(PHEX):c.*231A>G rs946863800 0.00001
NM_000447.3(PSEN2):c.712C>T (p.Leu238Phe) rs367855127 0.00001
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val) rs1554944856 0.00001
NM_000448.3(RAG1):c.2291G>A (p.Arg764His) rs768809293 0.00001
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) rs768860215 0.00001
NM_000454.5(SOD1):c.193T>C (p.Phe65Leu) rs1030039318 0.00001
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg) rs61750407 0.00001
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro) rs121434455 0.00001
NM_000466.3(PEX1):c.2636T>C (p.Leu879Ser) rs1362906637 0.00001
NM_000478.6(ALPL):c.1022A>G (p.His341Arg) rs1382219911 0.00001
NM_000478.6(ALPL):c.127C>T (p.Leu43Phe) rs148357203 0.00001
NM_000478.6(ALPL):c.1375G>A (p.Val459Met) rs1054159992 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) rs886044912 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603 0.00001
NM_000481.4(AMT):c.793C>T (p.Arg265Cys) rs779483959 0.00001
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610 0.00001
NM_000487.6(ARSA):c.248T>C (p.Leu83Pro) rs1190061000 0.00001
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser) rs74315461 0.00001
NM_000487.6(ARSA):c.674A>G (p.Tyr225Cys) rs527640350 0.00001
NM_000488.4(SERPINC1):c.133C>T (p.Arg45Trp) rs768704768 0.00001
NM_000488.4(SERPINC1):c.449A>C (p.Gln150Pro) rs765445413 0.00001
NM_000492.4(CFTR):c.1081T>C (p.Trp361Arg) rs397508154 0.00001
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser) rs397508187 0.00001
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn) rs758900656 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr) rs397508224 0.00001
NM_000492.4(CFTR):c.1585-9412A>G rs397508229 0.00001
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201 0.00001
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe) rs186089140 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000492.4(CFTR):c.2679G>T (p.Gly893=) rs397508419 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly) rs397508436 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg) rs397508494 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3623G>A (p.Gly1208Asp) rs746103666 0.00001
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600 0.00001
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.3873G>C (p.Gln1291His) rs121909015 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4243-2A>G rs397508705 0.00001
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser) rs397508727 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+5G>A rs533959068 0.00001
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344 0.00001
NM_000497.4(CYP11B1):c.1145T>G (p.Leu382Arg) rs1412048304 0.00001
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile) rs1489638195 0.00001
NM_000497.4(CYP11B1):c.422G>A (p.Arg141Gln) rs267601810 0.00001
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) rs12530380 0.00001
NM_000506.5(F2):c.1814_1815del (p.His605fs) rs776618390 0.00001
NM_000507.4(FBP1):c.880G>A (p.Gly294Arg) rs1064795826 0.00001
NM_000508.3(FGA):c.92G>T (p.Gly31Val) rs121909605 0.00001
NM_000512.5(GALNS):c.1480A>G (p.Met494Val) rs1401175486 0.00001
NM_000512.5(GALNS):c.1483-15A>G rs1461992033 0.00001
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr) rs1404888504 0.00001
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser) rs1303492021 0.00001
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg) rs398123434 0.00001
NM_000512.5(GALNS):c.281G>A (p.Arg94His) rs727503946 0.00001
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly) rs1427663367 0.00001
NM_000512.5(GALNS):c.638C>T (p.Ala213Val) rs770239604 0.00001
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp) rs775300515 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NM_000512.5(GALNS):c.911G>T (p.Gly304Val) rs758439379 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) rs750727201 0.00001
NM_000520.6(HEXA):c.536A>G (p.His179Arg) rs747372270 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000520.6(HEXA):c.972T>A (p.Val324=) rs28942072 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000525.4(KCNJ11):c.130G>A (p.Val44Met) rs1282255458 0.00001
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys) rs375848765 0.00001
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met) rs1057518775 0.00001
NM_000525.4(KCNJ11):c.874G>A (p.Glu292Lys) rs1174593640 0.00001
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp) rs869320650 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val) rs879254808 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1217G>A (p.Arg406Gln) rs552422789 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1241T>G (p.Leu414Arg) rs748554592 0.00001
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu) rs763884010 0.00001
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1966C>A (p.His656Asn) rs762815611 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) rs879255142 0.00001
NM_000527.5(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.664T>C (p.Cys222Arg) rs577934998 0.00001
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys) rs879254657 0.00001
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) rs879254665 0.00001
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr) rs761765254 0.00001
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) rs730882094 0.00001
NM_000527.5(LDLR):c.949G>A (p.Glu317Lys) rs746834464 0.00001
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro) rs864621992 0.00001
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val) rs772853856 0.00001
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu) rs746702002 0.00001
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn) rs772108001 0.00001
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp) rs763257568 0.00001
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu) rs746808159 0.00001
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys) rs772562587 0.00001
NM_000530.8(MPZ):c.186C>G (p.Ile62Met) rs121913605 0.00001
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099 0.00001
NM_000530.8(MPZ):c.418T>A (p.Ser140Thr) rs572010627 0.00001
NM_000530.8(MPZ):c.646-3C>G rs750756212 0.00001
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys) rs72558495 0.00001
NM_000531.6(OTC):c.286T>C (p.Ser96Pro) rs184053962 0.00001
NM_000532.5(PCCB):c.563G>C (p.Gly188Ala) rs796052024 0.00001
NM_000532.5(PCCB):c.814C>T (p.Arg272Trp) rs375999824 0.00001
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val) rs1554295876 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573 0.00001
NM_000536.4(RAG2):c.518A>G (p.Asn173Ser) rs766735610 0.00001
NM_000540.3(RYR1):c.10937+1G>C rs775682151 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.11315G>A (p.Arg3772Gln) rs193922839 0.00001
NM_000540.3(RYR1):c.11590+1G>T rs113928116 0.00001
NM_000540.3(RYR1):c.11608+2T>C rs1443083095 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.131G>A (p.Arg44His) rs139161723 0.00001
NM_000540.3(RYR1):c.13525_13531dup (p.Lys4511fs) rs928989953 0.00001
NM_000540.3(RYR1):c.13672C>T (p.Arg4558Trp) rs771741606 0.00001
NM_000540.3(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130 0.00001
NM_000540.3(RYR1):c.14474G>A (p.Arg4825His) rs193922875 0.00001
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr) rs118192158 0.00001
NM_000540.3(RYR1):c.14833C>T (p.Arg4945Ter) rs1432807966 0.00001
NM_000540.3(RYR1):c.14939C>T (p.Thr4980Met) rs398123471 0.00001
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000540.3(RYR1):c.1559T>C (p.Leu520Pro) rs1384515505 0.00001
NM_000540.3(RYR1):c.1655G>A (p.Arg552Gln) rs772978260 0.00001
NM_000540.3(RYR1):c.178G>A (p.Asp60Asn) rs118192160 0.00001
NM_000540.3(RYR1):c.1983G>A (p.Trp661Ter) rs1305971341 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000540.3(RYR1):c.2682G>T (p.Pro894=) rs919322708 0.00001
NM_000540.3(RYR1):c.2897C>T (p.Pro966Leu) rs143179371 0.00001
NM_000540.3(RYR1):c.3224G>A (p.Arg1075Gln) rs749040743 0.00001
NM_000540.3(RYR1):c.3253G>A (p.Gly1085Ser) rs752849270 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 0.00001
NM_000540.3(RYR1):c.328C>T (p.His110Tyr) rs767777113 0.00001
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys) rs756138074 0.00001
NM_000540.3(RYR1):c.3381+5G>A rs199691436 0.00001
NM_000540.3(RYR1):c.3523G>A (p.Glu1175Lys) rs769744438 0.00001
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00001
NM_000540.3(RYR1):c.3686_3699del (p.Met1229fs) rs774319202 0.00001
NM_000540.3(RYR1):c.4160+1G>A rs113460156 0.00001
NM_000540.3(RYR1):c.4777C>T (p.Arg1593Trp) rs1229854214 0.00001
NM_000540.3(RYR1):c.4934G>A (p.Arg1645Gln) rs193922778 0.00001
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs) rs1248355799 0.00001
NM_000540.3(RYR1):c.6388G>A (p.Gly2130Arg) rs193922789 0.00001
NM_000540.3(RYR1):c.6664-2A>G rs1346257891 0.00001
NM_000540.3(RYR1):c.668A>G (p.His223Arg) rs766836202 0.00001
NM_000540.3(RYR1):c.7027G>A (p.Gly2343Ser) rs536596969 0.00001
NM_000540.3(RYR1):c.7036G>A (p.Val2346Met) rs193922799 0.00001
NM_000540.3(RYR1):c.7043A>G (p.Glu2348Gly) rs193922801 0.00001
NM_000540.3(RYR1):c.7075C>T (p.Arg2359Trp) rs769482889 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.7199A>G (p.Asp2400Gly) rs976108591 0.00001
NM_000540.3(RYR1):c.7268T>A (p.Met2423Lys) rs118192174 0.00001
NM_000540.3(RYR1):c.7282G>A (p.Ala2428Thr) rs193922809 0.00001
NM_000540.3(RYR1):c.7757T>A (p.Val2586Glu) rs577314143 0.00001
NM_000540.3(RYR1):c.7858C>T (p.Gln2620Ter) rs1365856881 0.00001
NM_000540.3(RYR1):c.8026C>T (p.Arg2676Trp) rs193922826 0.00001
NM_000540.3(RYR1):c.8290G>A (p.Glu2764Lys) rs193922829 0.00001
NM_000540.3(RYR1):c.8291A>G (p.Glu2764Gly) rs1403616422 0.00001
NM_000540.3(RYR1):c.8310+1G>T rs1970380121 0.00001
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys) rs112772310 0.00001
NM_000540.3(RYR1):c.8888T>C (p.Leu2963Pro) rs756870293 0.00001
NM_000540.3(RYR1):c.9149T>A (p.Val3050Asp) rs1157851269 0.00001
NM_000540.3(RYR1):c.9157C>T (p.Arg3053Ter) rs1374378105 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000540.3(RYR1):c.9472+1G>A rs776697656 0.00001
NM_000540.3(RYR1):c.9605C>T (p.Pro3202Leu) rs754002399 0.00001
NM_000540.3(RYR1):c.9623C>T (p.Pro3208Leu) rs758210285 0.00001
NM_000540.3(RYR1):c.983G>A (p.Arg328Gln) rs755875230 0.00001
NM_000543.5(SMPD1):c.1202C>G (p.Pro401Arg) rs1206562843 0.00001
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val) rs748589919 0.00001
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg) rs1554935669 0.00001
NM_000543.5(SMPD1):c.958A>G (p.Asn320Asp) rs779927660 0.00001
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe) rs193922587 0.00001
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys) rs1316999782 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000546.6(TP53):c.1000G>C (p.Gly334Arg) rs730882028 0.00001
NM_000546.6(TP53):c.328C>T (p.Arg110Cys) rs587781371 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.472C>T (p.Arg158Cys) rs587780068 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.530C>T (p.Pro177Leu) rs751477326 0.00001
NM_000546.6(TP53):c.536A>G (p.His179Arg) rs1057519991 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.840A>T (p.Arg280Ser) rs1567547687 0.00001
NM_000548.5(TSC2):c.886G>A (p.Val296Met) rs747237113 0.00001
NM_000550.3(TYRP1):c.1133A>G (p.Asn378Ser) rs771055145 0.00001
NM_000550.3(TYRP1):c.671A>G (p.His224Arg) rs1312739999 0.00001
NM_000551.4(VHL):c.341-25_370dup rs1553619923 0.00001
NM_000551.4(VHL):c.429C>T (p.Asp143=) rs773556807 0.00001
NM_000551.4(VHL):c.548C>T (p.Ser183Leu) rs5030823 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.3944G>A (p.Arg1315His) rs61749396 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp) rs370854023 0.00001
NM_000553.6(WRN):c.4191+1G>A rs1279354218 0.00001
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp) rs765749454 0.00001
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg) rs772347559 0.00001
NM_000709.4(BCKDHA):c.1036C>T (p.Arg346Cys) rs182923857 0.00001
NM_000709.4(BCKDHA):c.1037G>A (p.Arg346His) rs398123486 0.00001
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys) rs367823977 0.00001
NM_000709.4(BCKDHA):c.979G>A (p.Glu327Lys) rs398123515 0.00001
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala) rs1391136601 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000726.5(CACNB4):c.331G>A (p.Val111Met) rs764764389 0.00001
NM_000732.6(CD3D):c.457C>T (p.Arg153Ter) rs201994476 0.00001
NM_000755.5(CRAT):c.962G>A (p.Arg321His) rs138665095 0.00001
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro) rs1406298698 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys) rs560108684 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp) rs72551312 0.00001
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796 0.00001
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg) rs72551317 0.00001
NM_000789.4(ACE):c.817C>T (p.Leu273Phe) rs1357918249 0.00001
NM_000875.5(IGF1R):c.1997-6G>A rs750280055 0.00001
NM_001002294.3(FMO3):c.713G>A (p.Arg238Gln) rs748324481 0.00001
NM_001003800.2(BICD2):c.2108C>T (p.Thr703Met) rs371707778 0.00001
NM_001003841.3(SLC6A19):c.284G>A (p.Arg95Gln) rs201936518 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001006658.3(CR2):c.1613A>G (p.His538Arg) rs763755514 0.00001
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp) rs1243531358 0.00001
NM_001008216.2(GALE):c.449C>T (p.Thr150Met) rs765353795 0.00001
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp) rs764909409 0.00001
NM_001009944.3(PKD1):c.8300G>A (p.Arg2767His) rs770080914 0.00001
NM_001017995.3(SH3PXD2B):c.212G>A (p.Arg71Gln) rs200536170 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001018005.2(TPM1):c.82G>C (p.Asp28His) rs397516391 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001018115.3(FANCD2):c.1278+6T>C rs779894573 0.00001
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe) rs529893298 0.00001
NM_001018115.3(FANCD2):c.491+1G>A rs943009372 0.00001
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met) rs778289599 0.00001
NM_001031689.3(PLAA):c.1487-1G>A rs1426488816 0.00001
NM_001034116.2(EIF2B4):c.1191+2T>C rs751867352 0.00001
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) rs753850982 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys) rs730880191 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys) rs1290534109 0.00001
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys) rs2064221873 0.00001
NM_001037.5(SCN1B):c.196G>T (p.Glu66Ter) rs1193962006 0.00001
NM_001037333.3(CYFIP2):c.1684C>T (p.Arg562Trp) rs1663188420 0.00001
NM_001038603.3(MARVELD2):c.1147-2A>G rs763062791 0.00001
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839 0.00001
NM_001042432.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338 0.00001
NM_001042432.2(CLN3):c.47-1G>A rs1555469477 0.00001
NM_001042432.2(CLN3):c.837+5G>A rs756848924 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.7700C>T (p.Pro2567Leu) rs754511534 0.00001
NM_001048166.1(STIL):c.1264C>A (p.Pro422Thr) rs888258532 0.00001
NM_001048166.1(STIL):c.3838C>T (p.Arg1280Cys) rs199634446 0.00001
NM_001048174.2(MUTYH):c.1102+1G>A rs587781337 0.00001
NM_001048174.2(MUTYH):c.1556del (p.Ala519fs) rs587780086 0.00001
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg) rs558707786 0.00001
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln) rs533899702 0.00001
NM_001048174.2(MUTYH):c.493-5A>G rs758377868 0.00001
NM_001048174.2(MUTYH):c.563G>A (p.Gly188Glu) rs768553551 0.00001
NM_001048174.2(MUTYH):c.992C>T (p.Pro331Leu) rs1060501323 0.00001
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln) rs199422117 0.00001
NM_001077365.2(POMT1):c.697_699del (p.Asn233del) rs761863400 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001080.3(ALDH5A1):c.1478A>G (p.Asn493Ser) rs776978579 0.00001
NM_001080.3(ALDH5A1):c.515G>A (p.Arg172His) rs773814880 0.00001
NM_001080.3(ALDH5A1):c.692A>G (p.Glu231Gly) rs757605946 0.00001
NM_001080397.3(SLC45A1):c.526C>T (p.Arg176Trp) rs781036625 0.00001
NM_001081.4(CUBN):c.6821+3A>G rs767078847 0.00001
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg) rs371117662 0.00001
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile) rs375716771 0.00001
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn) rs754079962 0.00001
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro) rs764596094 0.00001
NM_001101.5(ACTB):c.94C>T (p.Pro32Ser) rs779839358 0.00001
NM_001110556.2(FLNA):c.1966C>T (p.Leu656Phe) rs137853311 0.00001
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys) rs1064797047 0.00001
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe) rs138808921 0.00001
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) rs1210433339 0.00001
NM_001122955.4(BSCL2):c.1004A>C (p.Gln335Pro) rs779199750 0.00001
NM_001122955.4(BSCL2):c.405-11A>G rs1434874435 0.00001
NM_001126108.2(SLC12A3):c.1919A>G (p.Asn640Ser) rs886039754 0.00001
NM_001126108.2(SLC12A3):c.2548C>T (p.Leu850Phe) rs765240540 0.00001
NM_001126108.2(SLC12A3):c.403C>T (p.Arg135Cys) rs749742102 0.00001
NM_001126108.2(SLC12A3):c.460A>T (p.Ile154Phe) rs748547209 0.00001
NM_001126108.2(SLC12A3):c.472C>T (p.Arg158Trp) rs1041531529 0.00001
NM_001127222.2(CACNA1A):c.5032C>T (p.Arg1678Cys) rs121908243 0.00001
NM_001128425.2(MUTYH):c.36+3A>T rs759654665 0.00001
NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln) rs387907347 0.00001
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg) rs201049092 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys) rs757820496 0.00001
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr) rs746663568 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001134831.2(AHI1):c.1301T>C (p.Leu434Pro) rs771603649 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr) rs755786784 0.00001
NM_001142800.2(EYS):c.5644+5G>A rs794727412 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro) rs1250317776 0.00001
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr) rs948998853 0.00001
NM_001142966.3(GREB1L):c.2252G>A (p.Arg751His) rs1343579561 0.00001
NM_001142966.3(GREB1L):c.988C>T (p.Arg330Trp) rs377314861 0.00001
NM_001145308.5(LRTOMT):c.154C>T (p.Arg52Trp) rs1372399805 0.00001
NM_001145308.5(LRTOMT):c.172C>T (p.Arg58Ter) rs1298804148 0.00001
NM_001145678.3(KIAA0825):c.2173A>T (p.Lys725Ter) rs956457873 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe) rs370050799 0.00001
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn) rs193302900 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=) rs201553266 0.00001
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_001164508.2(NEB):c.8020G>A (p.Glu2674Lys) rs369224273 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001165963.4(SCN1A):c.1498C>T (p.Arg500Trp) rs141188608 0.00001
NM_001165963.4(SCN1A):c.2240T>C (p.Ile747Thr) rs980156920 0.00001
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met) rs750901301 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) rs121917992 0.00001
NM_001165963.4(SCN1A):c.5291T>A (p.Phe1764Tyr) rs796053037 0.00001
NM_001166114.2(PNPLA6):c.3518G>A (p.Arg1173Gln) rs1057517802 0.00001
NM_001166114.2(PNPLA6):c.3805C>T (p.Arg1269Cys) rs2024064953 0.00001
NM_001170535.3(ATAD3A):c.251C>T (p.Thr84Met) rs546711654 0.00001
NM_001170535.3(ATAD3A):c.750G>A (p.Thr250=) rs371490361 0.00001
NM_001171.6(ABCC6):c.1526C>G (p.Ala509Gly) rs779408186 0.00001
NM_001171.6(ABCC6):c.3461T>C (p.Val1154Ala) rs775707011 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001177316.2(SLC34A3):c.448+5G>A rs768893184 0.00001
NM_001177701.3(IFT27):c.234+1G>A rs1159774355 0.00001
NM_001182.5(ALDH7A1):c.575C>T (p.Thr192Met) rs376917645 0.00001
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly) rs555896752 0.00001
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser) rs772171727 0.00001
NM_001191061.2(SLC25A22):c.735_736del (p.Pro245_Cys246insTer) rs796053242 0.00001
NM_001194998.2(CEP152):c.88-2A>G rs537376932 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001195518.2(MICU1):c.547C>T (p.Gln183Ter) rs777327250 0.00001
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His) rs765965968 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.920A>G (p.Asn307Ser) rs761934676 0.00001
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp) rs992324423 0.00001
NM_001199397.3(NEK1):c.868+1G>C rs897732893 0.00001
NM_001205293.3(CACNA1E):c.4777A>G (p.Ile1593Val) rs1159957403 0.00001
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter) rs186643840 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001244710.2(GFPT1):c.1610A>C (p.Glu537Ala) rs988021644 0.00001
NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr) rs201018751 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) rs727504184 0.00001
NM_001267550.2(TTN):c.104399del (p.Arg34800fs) rs747662439 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.12016_12019dup (p.Gly4007fs) rs1553940935 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.20395C>T (p.Arg6799Trp) rs751534449 0.00001
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter) rs1340940049 0.00001
NM_001267550.2(TTN):c.26482+1G>C rs1440418037 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_001267550.2(TTN):c.32471-1G>A rs371725574 0.00001
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter) rs1441434215 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.52553G>A (p.Arg17518His) rs559590585 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.583+2T>C rs772731855 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 0.00001
NM_001267550.2(TTN):c.66160+2T>C rs753146898 0.00001
NM_001267550.2(TTN):c.68527+1G>C rs766984722 0.00001
NM_001267550.2(TTN):c.68786C>T (p.Ser22929Leu) rs764365298 0.00001
NM_001267550.2(TTN):c.68824+5G>C rs749639627 0.00001
NM_001267550.2(TTN):c.70819G>A (p.Ala23607Thr) rs786205539 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001276345.2(TNNT2):c.163+1G>T rs113051005 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) rs730881101 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001278293.3(ARL6):c.362G>A (p.Arg121His) rs765715798 0.00001
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042 0.00001
NM_001288705.3(CSF1R):c.2392G>A (p.Gly798Arg) rs1209791630 0.00001
NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr) rs577253222 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His) rs760373259 0.00001
NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys) rs771833874 0.00001
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) rs761839551 0.00001
NM_001297.5(CNGB1):c.2438C>T (p.Ser813Leu) rs747258045 0.00001
NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg) rs752967885 0.00001
NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr) rs752170364 0.00001
NM_001303.4(COX10):c.982G>A (p.Ala328Thr) rs777911169 0.00001
NM_001303256.3(MORC2):c.2888A>G (p.Asn963Ser) rs781162787 0.00001
NM_001303256.3(MORC2):c.956G>A (p.Arg319His) rs1163530787 0.00001
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_001330691.3(CEP78):c.22C>T (p.Arg8Cys) rs1314816485 0.00001
NM_001349.4(DARS1):c.1459C>T (p.Arg487Cys) rs587776984 0.00001
NM_001349338.3(FOXP1):c.1523C>T (p.Thr508Met) rs2037693846 0.00001
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166 0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793 0.00001
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu) rs1260631800 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001354768.3(NRL):c.544C>T (p.Gln182Ter) rs901811301 0.00001
NM_001358530.2(MOCS1):c.1150+20G>A rs752653792 0.00001
NM_001358530.2(MOCS1):c.1150G>A (p.Glu384Lys) rs751603831 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1085G>A (p.Arg362His) rs142213147 0.00001
NM_001360.3(DHCR7):c.1277A>C (p.His426Pro) rs1354718634 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.521T>C (p.Phe174Ser) rs769218623 0.00001
NM_001360.3(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782 0.00001
NM_001360.3(DHCR7):c.728C>G (p.Pro243Arg) rs777248132 0.00001
NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu) rs1085307926 0.00001
NM_001360016.2(G6PD):c.242G>A (p.Arg81His) rs782308266 0.00001
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met) rs782771682 0.00001
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn) rs781906610 0.00001
NM_001363118.2(SLC52A2):c.505C>T (p.Arg169Cys) rs782345472 0.00001
NM_001363711.2(DUOX2):c.3416-2A>C rs758000012 0.00001
NM_001363711.2(DUOX2):c.4561G>T (p.Gly1521Ter) rs765781255 0.00001
NM_001365999.1(SZT2):c.6145C>T (p.His2049Tyr) rs566289796 0.00001
NM_001365999.1(SZT2):c.9269G>A (p.Arg3090His) rs374490896 0.00001
NM_001369.3(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153 0.00001
NM_001369.3(DNAH5):c.7096C>T (p.Arg2366Trp) rs868151020 0.00001
NM_001369.3(DNAH5):c.8147T>C (p.Ile2716Thr) rs746501395 0.00001
NM_001369.3(DNAH5):c.8396G>A (p.Arg2799Gln) rs1182948401 0.00001
NM_001369268.1(ACAN):c.7108T>C (p.Tyr2370His) rs1555457492 0.00001
NM_001370259.2(MEN1):c.1169C>T (p.Pro390Leu) rs761102084 0.00001
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_001370259.2(MEN1):c.466G>A (p.Gly156Ser) rs1085307471 0.00001
NM_001370466.1(NOD2):c.565+1G>A rs766614906 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg) rs397514412 0.00001
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys) rs749460715 0.00001
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu) rs558477960 0.00001
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val) rs771537277 0.00001
NM_001370658.1(BTD):c.176G>A (p.Arg59His) rs397514343 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu) rs575787457 0.00001
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu) rs397514359 0.00001
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys) rs397514363 0.00001
NM_001370658.1(BTD):c.425C>T (p.Ala142Val) rs397514364 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys) rs372844636 0.00001
NM_001370658.1(BTD):c.572G>A (p.Arg191His) rs112195009 0.00001
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr) rs397514381 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser) rs397514383 0.00001
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr) rs397514384 0.00001
NM_001371596.2(MFSD8):c.1394G>A (p.Arg465Gln) rs1275962600 0.00001
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His) rs749704755 0.00001
NM_001371596.2(MFSD8):c.863+4A>G rs752035164 0.00001
NM_001371904.1(APOA5):c.427del (p.Arg143fs) rs777046568 0.00001
NM_001371904.1(APOA5):c.888del (p.Ile296fs) rs1477198098 0.00001
NM_001371904.1(APOA5):c.937C>T (p.Gln313Ter) rs147528707 0.00001
NM_001371986.1(UNC80):c.8723G>A (p.Arg2908Gln) rs1255262851 0.00001
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu) rs376245108 0.00001
NM_001374828.1(ARID1B):c.3236-1G>A rs752642190 0.00001
NM_001376.5(DYNC1H1):c.8343+5G>A rs369653555 0.00001
NM_001377.3(DYNC2H1):c.12462G>C (p.Trp4154Cys) rs1047872625 0.00001
NM_001377.3(DYNC2H1):c.12896G>A (p.Gly4299Glu) rs770569272 0.00001
NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn) rs756556129 0.00001
NM_001377.3(DYNC2H1):c.6613C>T (p.Arg2205Cys) rs750689118 0.00001
NM_001377265.1(MAPT):c.2091+19C>G rs63750162 0.00001
NM_001378454.1(ALMS1):c.9539G>A (p.Arg3180Gln) rs772197358 0.00001
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487 0.00001
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys) rs1294150954 0.00001
NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln) rs371238926 0.00001
NM_001379286.1(ZNF423):c.3274G>A (p.Val1092Ile) rs759221881 0.00001
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp) rs772988029 0.00001
NM_001384140.1(PCDH15):c.3717+2dup rs1248401224 0.00001
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln) rs767966376 0.00001
NM_001384140.1(PCDH15):c.4211+2T>G rs753832779 0.00001
NM_001384474.1(LOXHD1):c.5731G>A (p.Gly1911Arg) rs780560784 0.00001
NM_001386125.1(OBSCN):c.8582C>T (p.Thr2861Met) rs747262678 0.00001
NM_001399.5(EDA):c.1123A>G (p.Lys375Glu) rs781394318 0.00001
NM_001453.3(FOXC1):c.486C>G (p.Phe162Leu) rs1581373871 0.00001
NM_001482.3(GATM):c.911T>C (p.Ile304Thr) rs1334969328 0.00001
NM_001486.4(GCKR):c.1312C>T (p.His438Tyr) rs745955443 0.00001
NM_001540.5(HSPB1):c.570G>C (p.Gln190His) rs764297134 0.00001
NM_001605.3(AARS1):c.1997T>C (p.Val666Ala) rs145056270 0.00001
NM_001605.3(AARS1):c.259G>A (p.Asp87Asn) rs763757370 0.00001
NM_001605.3(AARS1):c.976C>T (p.Arg326Trp) rs777601008 0.00001
NM_001609.4(ACADSB):c.303+3A>G rs1345480688 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_001673.5(ASNS):c.1210C>T (p.Arg404Cys) rs375234125 0.00001
NM_001673.5(ASNS):c.1614G>A (p.Met538Ile) rs767700335 0.00001
NM_001673.5(ASNS):c.614A>C (p.His205Pro) rs1252577998 0.00001
NM_001830.4(CLCN4):c.2183C>T (p.Thr728Met) rs483352716 0.00001
NM_001844.5(COL2A1):c.1645G>A (p.Gly549Ser) rs907944585 0.00001
NM_001844.5(COL2A1):c.1962C>T (p.Gly654=) rs794727533 0.00001
NM_001844.5(COL2A1):c.2966G>A (p.Arg989His) rs756155678 0.00001
NM_001845.6(COL4A1):c.4204G>A (p.Gly1402Ser) rs1179536054 0.00001
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp) rs567124920 0.00001
NM_001846.4(COL4A2):c.1012-1G>A rs1224451609 0.00001
NM_001846.4(COL4A2):c.1776+1G>A rs886039602 0.00001
NM_001846.4(COL4A2):c.3598G>A (p.Gly1200Ser) rs1271683445 0.00001
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg) rs797044947 0.00001
NM_001849.4(COL6A2):c.1162G>A (p.Gly388Arg) rs727503883 0.00001
NM_001849.4(COL6A2):c.1591G>A (p.Gly531Ser) rs778364096 0.00001
NM_001849.4(COL6A2):c.287A>G (p.Tyr96Cys) rs2078408746 0.00001
NM_001849.4(COL6A2):c.946G>A (p.Gly316Ser) rs762882543 0.00001
NM_001852.4(COL9A2):c.1603+1G>A rs1322708706 0.00001
NM_001853.4(COL9A3):c.1387G>A (p.Gly463Arg) rs776587206 0.00001
NM_001853.4(COL9A3):c.369+1G>A rs766029215 0.00001
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp) rs1472190012 0.00001
NM_001875.5(CPS1):c.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu) rs754706559 0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849 0.00001
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306 0.00001
NM_001876.4(CPT1A):c.1027T>G (p.Phe343Val) rs80356783 0.00001
NM_001876.4(CPT1A):c.1393G>A (p.Gly465Arg) rs80356784 0.00001
NM_001876.4(CPT1A):c.1449C>A (p.His483Gln) rs1165511243 0.00001
NM_001876.4(CPT1A):c.317G>A (p.Ser106Asn) rs766819782 0.00001
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972 0.00001
NM_001918.5(DBT):c.1202T>C (p.Ile401Thr) rs1449113689 0.00001
NM_001918.5(DBT):c.1400G>A (p.Trp467Ter) rs767760099 0.00001
NM_001918.5(DBT):c.365A>G (p.Tyr122Cys) rs727503896 0.00001
NM_001918.5(DBT):c.5C>T (p.Ala2Val) rs398123672 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu) rs119103240 0.00001
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848 0.00001
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys) rs200484060 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_001953.5(TYMP):c.358G>A (p.Gly120Ser) rs863224250 0.00001
NM_001972.4(ELANE):c.364C>T (p.Gln122Ter) rs1303279241 0.00001
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys) rs772976948 0.00001
NM_002113.3(CFHR1):c.869T>C (p.Leu290Ser) rs200832275 0.00001
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg) rs749343954 0.00001
NM_002180.3(IGHMBP2):c.1273C>T (p.Arg425Cys) rs1303837541 0.00001
NM_002180.3(IGHMBP2):c.1582G>A (p.Ala528Thr) rs724159960 0.00001
NM_002185.5(IL7R):c.83-2A>T rs886060531 0.00001
NM_002204.4(ITGA3):c.1973C>G (p.Thr658Arg) rs540704248 0.00001
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00001
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly) rs1163816425 0.00001
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln) rs1477527791 0.00001
NM_002225.5(IVD):c.539C>T (p.Ala180Val) rs559732306 0.00001
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) rs121908592 0.00001
NM_002241.5(KCNJ10):c.115G>A (p.Val39Met) rs1274663711 0.00001
NM_002241.5(KCNJ10):c.179T>C (p.Ile60Thr) rs759993423 0.00001
NM_002241.5(KCNJ10):c.76C>T (p.Arg26Ter) rs138943405 0.00001
NM_002292.4(LAMB2):c.467G>A (p.Arg156His) rs1378409559 0.00001
NM_002296.4(LBR):c.1366C>G (p.Leu456Val) rs377110126 0.00001
NM_002334.4(LRP4):c.1633C>T (p.Arg545Trp) rs371763360 0.00001
NM_002335.4(LRP5):c.1348C>T (p.Arg450Cys) rs765695793 0.00001
NM_002335.4(LRP5):c.1480C>T (p.Arg494Trp) rs1270099780 0.00001
NM_002335.4(LRP5):c.1507G>A (p.Gly503Arg) rs766988509 0.00001
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr) rs544861971 0.00001
NM_002470.4(MYH3):c.4357-10G>A rs374066994 0.00001
NM_002471.4(MYH6):c.4097C>T (p.Ala1366Val) rs1085307922 0.00001
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp) rs886038932 0.00001
NM_002496.4(NDUFS8):c.460G>A (p.Gly154Ser) rs143337739 0.00001
NM_002529.4(NTRK1):c.2143G>A (p.Val715Met) rs759190964 0.00001
NM_002529.4(NTRK1):c.2312G>A (p.Arg771His) rs780724170 0.00001
NM_002617.4(PEX10):c.913-2A>C rs758250423 0.00001
NM_002633.3(PGM1):c.1264C>T (p.Arg422Trp) rs748019294 0.00001
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro) rs774610098 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile) rs759128787 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro) rs769210629 0.00001
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln) rs140079523 0.00001
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala) rs1354582663 0.00001
NM_002693.3(POLG):c.3347T>C (p.Met1116Thr) rs764036283 0.00001
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser) rs753864625 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter) rs781256643 0.00001
NM_002693.3(POLG):c.425T>C (p.Leu142Pro) rs1064797202 0.00001
NM_002693.3(POLG):c.926G>A (p.Arg309His) rs780953863 0.00001
NM_002693.3(POLG):c.955A>G (p.Lys319Glu) rs766465907 0.00001
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675 0.00001
NM_002739.5(PRKCG):c.1764+1G>T rs1406338491 0.00001
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu) rs1303074743 0.00001
NM_002834.5(PTPN11):c.175A>G (p.Thr59Ala) rs886043790 0.00001
NM_002860.4(ALDH18A1):c.2110G>A (p.Glu704Lys) rs758219423 0.00001
NM_002860.4(ALDH18A1):c.2293C>T (p.Arg765Ter) rs1462559161 0.00001
NM_002860.4(ALDH18A1):c.383G>A (p.Arg128His) rs768323248 0.00001
NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro) rs372365287 0.00001
NM_002880.4(RAF1):c.791A>T (p.His264Leu) rs1057517887 0.00001
NM_002887.4(RARS1):c.1414C>T (p.Arg472Ter) rs180760483 0.00001
NM_002900.3(RBP3):c.3637C>T (p.Pro1213Ser) rs782519239 0.00001
NM_002900.3(RBP3):c.863C>A (p.Pro288His) rs917821437 0.00001
NM_002907.4(RECQL):c.1476C>G (p.Tyr492Ter) rs370785080 0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys) rs587778661 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg) rs1697439559 0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val) rs746187344 0.00001
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg) rs1408166345 0.00001
NM_003060.4(SLC22A5):c.1409C>T (p.Ser470Phe) rs386134222 0.00001
NM_003060.4(SLC22A5):c.1520T>C (p.Leu507Ser) rs1157198543 0.00001
NM_003060.4(SLC22A5):c.338G>A (p.Cys113Tyr) rs727504159 0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys) rs762126547 0.00001
NM_003060.4(SLC22A5):c.394-16T>A rs775097754 0.00001
NM_003060.4(SLC22A5):c.428C>T (p.Pro143Leu) rs1178584184 0.00001
NM_003060.4(SLC22A5):c.42G>C (p.Trp14Cys) rs796052036 0.00001
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro) rs386134197 0.00001
NM_003060.4(SLC22A5):c.77G>A (p.Ser26Asn) rs772578415 0.00001
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) rs121434500 0.00001
NM_003119.4(SPG7):c.1054G>A (p.Gly352Ser) rs537421502 0.00001
NM_003119.4(SPG7):c.1552+2dup rs1567928509 0.00001
NM_003119.4(SPG7):c.1730G>A (p.Gly577Asp) rs1329063851 0.00001
NM_003119.4(SPG7):c.1972G>A (p.Ala658Thr) rs2058661391 0.00001
NM_003119.4(SPG7):c.2104G>A (p.Glu702Lys) rs752257333 0.00001
NM_003221.4(TFAP2B):c.917C>T (p.Thr306Met) rs1232197674 0.00001
NM_003227.4(TFR2):c.1330G>A (p.Ala444Thr) rs80338884 0.00001
NM_003240.5(LEFTY2):c.1030C>A (p.Pro344Thr) rs777139964 0.00001
NM_003242.6(TGFBR2):c.1067G>A (p.Arg356Gln) rs727504292 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) rs730881061 0.00001
NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) rs527236117 0.00001
NM_003322.6(TULP1):c.971A>C (p.Tyr324Ser) rs749776323 0.00001
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe) rs398123697 0.00001
NM_003361.4(UMOD):c.326T>A (p.Val109Glu) rs780462125 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter) rs902082118 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys) rs587784347 0.00001
NM_003560.4(PLA2G6):c.2249G>A (p.Cys750Tyr) rs751225193 0.00001
NM_003630.3(PEX3):c.389G>A (p.Arg130Gln) rs758701470 0.00001
NM_003640.5(ELP1):c.1461-2A>G rs866046915 0.00001
NM_003664.5(AP3B1):c.3131+1G>A rs766116144 0.00001
NM_003673.4(TCAP):c.334C>T (p.Gln112Ter) rs794729175 0.00001
NM_003721.4(RFXANK):c.438+5G>A rs1196984337 0.00001
NM_003722.5(TP63):c.109C>T (p.Arg37Ter) rs147340040 0.00001
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly) rs922800309 0.00001
NM_003850.3(SUCLA2):c.1219C>T (p.Arg407Trp) rs1233249991 0.00001
NM_003862.3(FGF18):c.211C>T (p.Arg71Cys) rs1441510334 0.00001
NM_003865.3(HESX1):c.509C>T (p.Ser170Leu) rs28936703 0.00001
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615 0.00001
NM_003922.4(HERC1):c.14486G>A (p.Arg4829His) rs374249242 0.00001
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln) rs780293535 0.00001
NM_004004.6(GJB2):c.133G>A (p.Gly45Arg) rs1326514987 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.196G>A (p.Asp66Asn) rs104894403 0.00001
NM_004004.6(GJB2):c.227T>C (p.Leu76Pro) rs111033361 0.00001
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg) rs80338946 0.00001
NM_004004.6(GJB2):c.500T>C (p.Val167Ala) rs201983374 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro) rs777937235 0.00001
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser) rs1002618350 0.00001
NM_004092.4(ECHS1):c.268G>A (p.Gly90Arg) rs1085307550 0.00001
NM_004092.4(ECHS1):c.463G>A (p.Gly155Ser) rs555404939 0.00001
NM_004092.4(ECHS1):c.523G>A (p.Gly175Ser) rs962504241 0.00001
NM_004092.4(ECHS1):c.712G>C (p.Ala238Pro) rs142639185 0.00001
NM_004153.4(ORC1):c.266T>C (p.Phe89Ser) rs387906827 0.00001
NM_004168.4(SDHA):c.1352G>A (p.Arg451His) rs370690436 0.00001
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter) rs778207102 0.00001
NM_004168.4(SDHA):c.150+1G>A rs1057523165 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp) rs200397144 0.00001
NM_004168.4(SDHA):c.1754G>A (p.Arg585Gln) rs752360961 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 0.00001
NM_004183.4(BEST1):c.682G>A (p.Asp228Asn) rs267606676 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_004211.5(SLC6A5):c.2070+1G>A rs770660705 0.00001
NM_004341.5(CAD):c.172G>C (p.Gly58Arg) rs201445071 0.00001
NM_004341.5(CAD):c.3098G>A (p.Arg1033Gln) rs377122535 0.00001
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987 0.00001
NM_004360.5(CDH1):c.2194C>T (p.Arg732Trp) rs864622198 0.00001
NM_004360.5(CDH1):c.731A>G (p.Asp244Gly) rs1064794231 0.00001
NM_004362.3(CLGN):c.731A>G (p.Asp244Gly) rs201306926 0.00001
NM_004387.4(NKX2-5):c.707C>A (p.Pro236His) rs397515399 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.2985G>A (p.Glu995=) rs768858918 0.00001
NM_004444.5(EPHB4):c.2512C>T (p.Arg838Trp) rs764827256 0.00001
NM_004446.3(EPRS1):c.3344C>G (p.Pro1115Arg) rs1288116010 0.00001
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00001
NM_004453.4(ETFDH):c.1079C>T (p.Ala360Val) rs776428695 0.00001
NM_004453.4(ETFDH):c.1331T>C (p.Val444Ala) rs760234838 0.00001
NM_004453.4(ETFDH):c.1669G>A (p.Glu557Lys) rs1279728239 0.00001
NM_004453.4(ETFDH):c.257G>A (p.Arg86His) rs777655131 0.00001
NM_004453.4(ETFDH):c.679C>A (p.Pro227Thr) rs141407224 0.00001
NM_004453.4(ETFDH):c.728T>C (p.Ile243Thr) rs1397900640 0.00001
NM_004453.4(ETFDH):c.733G>A (p.Ala245Thr) rs371260517 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NM_004453.4(ETFDH):c.835T>C (p.Trp279Arg) rs754082348 0.00001
NM_004525.3(LRP2):c.863G>A (p.Gly288Glu) rs147110349 0.00001
NM_004530.6(MMP2):c.538G>A (p.Asp180Asn) rs786205497 0.00001
NM_004551.3(NDUFS3):c.374G>A (p.Arg125His) rs138867882 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_004560.4(ROR2):c.2239C>T (p.Arg747Ter) rs374646337 0.00001
NM_004589.4(SCO1):c.620G>A (p.Arg207Lys) rs774730754 0.00001
NM_004612.4(TGFBR1):c.844T>C (p.Tyr282His) rs755827803 0.00001
NM_004614.5(TK2):c.181A>G (p.Ser61Gly) rs747276038 0.00001
NM_004614.5(TK2):c.191C>T (p.Thr64Met) rs281865487 0.00001
NM_004614.5(TK2):c.311G>A (p.Arg104His) rs770318536 0.00001
NM_004614.5(TK2):c.497A>T (p.Asp166Val) rs921593414 0.00001
NM_004614.5(TK2):c.659T>C (p.Leu220Pro) rs1168827071 0.00001
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp) rs768210838 0.00001
NM_004628.5(XPC):c.1A>G (p.Met1Val) rs763678756 0.00001
NM_004646.4(NPHS1):c.1019C>A (p.Pro340His) rs386833861 0.00001
NM_004646.4(NPHS1):c.1170+7C>T rs906888001 0.00001
NM_004646.4(NPHS1):c.2815+3A>G rs1223946044 0.00001
NM_004646.4(NPHS1):c.320C>T (p.Ala107Val) rs386833934 0.00001
NM_004646.4(NPHS1):c.3287-2A>C rs758432802 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NM_004655.4(AXIN2):c.1201-2A>G rs775783026 0.00001
NM_004655.4(AXIN2):c.1713-2A>G rs766170422 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys) rs769772100 0.00001
NM_004817.4(TJP2):c.1056+2T>C rs1278244243 0.00001
NM_004820.5(CYP7B1):c.440G>A (p.Gly147Asp) rs754730601 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met) rs267607090 0.00001
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586 0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs) rs756471132 0.00001
NM_004937.3(CTNS):c.634G>A (p.Ala212Thr) rs768600603 0.00001
NM_004985.5(KRAS):c.149C>T (p.Thr50Ile) rs1407509439 0.00001
NM_004990.4(MARS1):c.1108T>C (p.Phe370Leu) rs140467171 0.00001
NM_005002.5(NDUFA9):c.199C>T (p.Arg67Ter) rs758574474 0.00001
NM_005006.7(NDUFS1):c.1222C>T (p.Arg408Cys) rs149271416 0.00001
NM_005026.5(PIK3CD):c.866A>G (p.Gln289Arg) rs969868296 0.00001
NM_005033.3(EXOSC9):c.329dup (p.Arg111fs) rs754121759 0.00001
NM_005050.4(ABCD4):c.1752+2T>C rs151116417 0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg) rs1410990711 0.00001
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys) rs185476065 0.00001
NM_005051.3(QARS1):c.1207C>T (p.Arg403Trp) rs587777332 0.00001
NM_005051.3(QARS1):c.1389-3C>A rs368358627 0.00001
NM_005051.3(QARS1):c.794G>A (p.Arg265His) rs916890735 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_005101.4(ISG15):c.83T>A (p.Leu28Gln) rs1245686232 0.00001
NM_005120.3(MED12):c.1562G>A (p.Arg521His) rs875989806 0.00001
NM_005198.5(CHKB):c.940C>T (p.Arg314Cys) rs200919604 0.00001
NM_005228.5(EGFR):c.2386G>A (p.Gly796Ser) rs754426793 0.00001
NM_005236.3(ERCC4):c.2169C>A (p.Cys723Ter) rs2020959 0.00001
NM_005340.7(HINT1):c.188T>A (p.Ile63Asn) rs1048322333 0.00001
NM_005340.7(HINT1):c.284G>A (p.Arg95Gln) rs373197800 0.00001
NM_005422.4(TECTA):c.5839C>T (p.Arg1947Cys) rs1428598791 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005476.7(GNE):c.1807C>T (p.Leu603Phe) rs372732220 0.00001
NM_005476.7(GNE):c.301C>T (p.Arg101Cys) rs148523065 0.00001
NM_005476.7(GNE):c.612G>A (p.Trp204Ter) rs786204476 0.00001
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) rs758468167 0.00001
NM_005502.4(ABCA1):c.2014C>T (p.Arg672Trp) rs759576379 0.00001
NM_005518.4(HMGCS2):c.1175C>T (p.Ser392Leu) rs766097440 0.00001
NM_005518.4(HMGCS2):c.160G>A (p.Val54Met) rs28937320 0.00001
NM_005529.7(HSPG2):c.1120C>T (p.Arg374Ter) rs759220039 0.00001
NM_005591.4(MRE11):c.1563+1G>A rs1381679718 0.00001
NM_005591.4(MRE11):c.2070+2T>A rs786202801 0.00001
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg) rs1394188143 0.00001
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu) rs773204705 0.00001
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu) rs756251887 0.00001
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp) rs377225525 0.00001
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu) rs1315020035 0.00001
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp) rs376581557 0.00001
NM_005633.4(SOS1):c.2105A>G (p.Tyr702Cys) rs757094189 0.00001
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys) rs886041241 0.00001
NM_005677.4(COLQ):c.954+1G>A rs757060689 0.00001
NM_005732.4(RAD50):c.3939A>T (p.Ter1313Tyr) rs121912629 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
NM_005902.4(SMAD3):c.1129G>A (p.Val377Ile) rs730880216 0.00001
NM_005902.4(SMAD3):c.268C>T (p.Arg90Cys) rs1085307496 0.00001
NM_005912.3(MC4R):c.821A>G (p.Asn274Ser) rs121913561 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_005957.5(MTHFR):c.1263G>C (p.Trp421Cys) rs200688214 0.00001
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser) rs749490263 0.00001
NM_005989.4(AKR1D1):c.509A>G (p.Asn170Ser) rs753124330 0.00001
NM_005989.4(AKR1D1):c.583G>T (p.Glu195Ter) rs1433614577 0.00001
NM_005993.5(TBCD):c.1340C>T (p.Ala447Val) rs1311737177 0.00001
NM_005993.5(TBCD):c.3125C>T (p.Pro1042Leu) rs760635077 0.00001
NM_005993.5(TBCD):c.3307G>A (p.Gly1103Ser) rs772606107 0.00001
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu) rs773900146 0.00001
NM_006005.3(WFS1):c.2108G>A (p.Arg703His) rs1323852277 0.00001
NM_006005.3(WFS1):c.2492G>A (p.Gly831Asp) rs28937895 0.00001
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys) rs567563179 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006019.4(TCIRG1):c.1372G>A (p.Gly458Ser) rs200851583 0.00001
NM_006019.4(TCIRG1):c.346C>T (p.Gln116Ter) rs1338631330 0.00001
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs) rs778391726 0.00001
NM_006035.4(CDC42BPB):c.424G>A (p.Ala142Thr) rs1198710710 0.00001
NM_006060.6(IKZF1):c.550C>T (p.Arg184Trp) rs1584926038 0.00001
NM_006073.4(TRDN):c.176C>T (p.Thr59Met) rs397515459 0.00001
NM_006182.4(DDR2):c.2255G>A (p.Arg752His) rs1374086542 0.00001
NM_006218.4(PIK3CA):c.323G>A (p.Arg108His) rs886042002 0.00001
NM_006231.4(POLE):c.2562-2A>C rs751662353 0.00001
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter) rs139603739 0.00001
NM_006231.4(POLE):c.5032C>T (p.Gln1678Ter) rs1301816028 0.00001
NM_006231.4(POLE):c.5812-1G>T rs1296022681 0.00001
NM_006231.4(POLE):c.941C>G (p.Ser314Ter) rs869312803 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006269.2(RP1):c.539T>G (p.Phe180Cys) rs557432569 0.00001
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) rs780978419 0.00001
NM_006363.6(SEC23B):c.742G>A (p.Glu248Lys) rs398124227 0.00001
NM_006415.4(SPTLC1):c.985C>T (p.Arg329Ter) rs1215612827 0.00001
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211 0.00001
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100 0.00001
NM_006494.4(ERF):c.247C>T (p.Arg83Trp) rs766762597 0.00001
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln) rs80359815 0.00001
NM_006516.4(SLC2A1):c.695G>A (p.Arg232His) rs139412383 0.00001
NM_006516.4(SLC2A1):c.865G>A (p.Ala289Thr) rs796053252 0.00001
NM_006767.4(LZTR1):c.1149+3A>G rs542715642 0.00001
NM_006767.4(LZTR1):c.1261-2A>G rs759240190 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.2462T>C (p.Ile821Thr) rs1275511136 0.00001
NM_006767.4(LZTR1):c.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val) rs912546325 0.00001
NM_006859.4(LIAS):c.983T>A (p.Phe328Tyr) rs1064793165 0.00001
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) rs201579632 0.00001
NM_006907.4(PYCR1):c.797+2T>C rs768235246 0.00001
NM_006929.5(SKIC2):c.1211G>A (p.Arg404His) rs1276606764 0.00001
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
NM_007055.4(POLR3A):c.1369G>A (p.Gly457Arg) rs768880752 0.00001
NM_007055.4(POLR3A):c.1930G>A (p.Glu644Lys) rs755165065 0.00001
NM_007059.4(KPTN):c.428C>T (p.Pro143Leu) rs372955218 0.00001
NM_007126.5(VCP):c.1460G>A (p.Arg487His) rs767379602 0.00001
NM_007126.5(VCP):c.278G>A (p.Arg93His) rs779959657 0.00001
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val) rs763958615 0.00001
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys) rs201206424 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980 0.00001
NM_007194.4(CHEK2):c.1260-8A>G rs863224747 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.479T>G (p.Ile160Arg) rs72552323 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile) rs730881684 0.00001
NM_007194.4(CHEK2):c.549G>C (p.Leu183Phe) rs745646057 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007194.4(CHEK2):c.792+2T>C rs545982789 0.00001
NM_007194.4(CHEK2):c.792+5G>C rs876658514 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007215.4(POLG2):c.544C>T (p.Arg182Trp) rs886037843 0.00001
NM_007272.3(CTRC):c.494-1G>C rs766917452 0.00001
NM_007294.4(BRCA1):c.301+1G>T rs587782173 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4185+4105C>T rs1597853155 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.5339T>C (p.Leu1780Pro) rs80357474 0.00001
NM_007294.4(BRCA1):c.5406+5G>T rs80358073 0.00001
NM_007294.4(BRCA1):c.5407-25T>A rs758780152 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_012123.4(MTO1):c.1261-5T>G rs1275100093 0.00001
NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser) rs746382157 0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_012123.4(MTO1):c.938G>A (p.Arg313Gln) rs371179032 0.00001
NM_012186.3(FOXE3):c.371C>T (p.Thr124Met) rs773472430 0.00001
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) rs765246909 0.00001
NM_012203.2(GRHPR):c.478G>A (p.Gly160Arg) rs180177312 0.00001
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter) rs1331106064 0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp) rs121908081 0.00001
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser) rs750972972 0.00001
NM_012318.3(LETM1):c.1178G>A (p.Arg393His) rs201808137 0.00001
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs) rs1234745577 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val) rs1585339231 0.00001
NM_013242.3(CFAP20):c.337C>T (p.Arg113Trp) rs767845554 0.00001
NM_013322.3(SNX10):c.284G>A (p.Arg95His) rs897553060 0.00001
NM_013328.4(PYCR2):c.40G>C (p.Ala14Pro) rs1210762206 0.00001
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206 0.00001
NM_013382.7(POMT2):c.1976G>A (p.Arg659Gln) rs770606360 0.00001
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) rs754512099 0.00001
NM_013432.5(TONSL):c.1459G>A (p.Glu487Lys) rs563710728 0.00001
NM_013432.5(TONSL):c.1958C>T (p.Thr653Met) rs755055463 0.00001
NM_013432.5(TONSL):c.595G>A (p.Glu199Lys) rs1335783881 0.00001
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln) rs750899715 0.00001
NM_014049.5(ACAD9):c.453+2T>A rs1179305061 0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014055.4(IFT81):c.1150C>T (p.Arg384Cys) rs143130309 0.00001
NM_014140.4(SMARCAL1):c.1439C>T (p.Pro480Leu) rs758367100 0.00001
NM_014140.4(SMARCAL1):c.1756C>T (p.Arg586Trp) rs119473038 0.00001
NM_014140.4(SMARCAL1):c.2290C>T (p.Arg764Trp) rs1480919035 0.00001
NM_014140.4(SMARCAL1):c.2450G>A (p.Arg817His) rs1172616375 0.00001
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly) rs760916142 0.00001
NM_014231.5(VAMP1):c.315T>A (p.Cys105Ter) rs1237437677 0.00001
NM_014249.4(NR2E3):c.1007T>C (p.Leu336Pro) rs752883545 0.00001
NM_014249.4(NR2E3):c.931C>T (p.Arg311Trp) rs767442358 0.00001
NM_014254.3(RXYLT1):c.914+6T>G rs748809209 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.8108G>A (p.Arg2703His) rs750181262 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014384.3(ACAD8):c.988C>T (p.Arg330Trp) rs121908420 0.00001
NM_014391.3(ANKRD1):c.790C>T (p.Arg264Cys) rs786205461 0.00001
NM_014585.6(SLC40A1):c.289G>A (p.Val97Met) rs886055361 0.00001
NM_014625.4(NPHS2):c.416T>G (p.Leu139Arg) rs1345260812 0.00001
NM_014639.4(SKIC3):c.1499G>T (p.Gly500Val) rs138144509 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.634+5G>A rs1323647622 0.00001
NM_014727.3(KMT2B):c.3050C>T (p.Ala1017Val) rs1969301334 0.00001
NM_014762.4(DHCR24):c.1438G>A (p.Glu480Lys) rs387906940 0.00001
NM_014845.6(FIG4):c.2467C>T (p.Gln823Ter) rs745790694 0.00001
NM_014845.6(FIG4):c.2547-1G>A rs769858739 0.00001
NM_014845.6(FIG4):c.290-2A>T rs587777715 0.00001
NM_014874.4(MFN2):c.707C>T (p.Thr236Met) rs773159585 0.00001
NM_014915.3(ANKRD26):c.-126T>C rs1589393792 0.00001
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_014946.4(SPAST):c.1817G>A (p.Arg606His) rs768077366 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015072.5(TTLL5):c.2030G>A (p.Arg677Gln) rs765491333 0.00001
NM_015100.4(POGZ):c.917G>A (p.Arg306Gln) rs1057518113 0.00001
NM_015107.3(PHF8):c.1731-1G>A rs797044651 0.00001
NM_015107.3(PHF8):c.1731-2A>G rs1437750762 0.00001
NM_015166.4(MLC1):c.240G>A (p.Met80Ile) rs281875310 0.00001
NM_015330.6(SPECC1L):c.3247G>A (p.Gly1083Ser) rs786201031 0.00001
NM_015338.6(ASXL1):c.141-2A>G rs768868045 0.00001
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs) rs551541795 0.00001
NM_015450.3(POT1):c.233T>C (p.Ile78Thr) rs947005337 0.00001
NM_015466.4(PTPN23):c.2486C>T (p.Pro829Leu) rs138076291 0.00001
NM_015474.4(SAMHD1):c.1693G>A (p.Ala565Thr) rs779491090 0.00001
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro) rs752205161 0.00001
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp) rs538023671 0.00001
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr) rs267607038 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_015713.5(RRM2B):c.204+5G>A rs372991229 0.00001
NM_015713.5(RRM2B):c.253_255del (p.Glu85del) rs515726184 0.00001
NM_015713.5(RRM2B):c.962del (p.Thr321fs) rs1435623358 0.00001
NM_015909.4(NBAS):c.1549C>T (p.Arg517Cys) rs370526257 0.00001
NM_015909.4(NBAS):c.2524G>T (p.Val842Phe) rs1085307944 0.00001
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753 0.00001
NM_015909.4(NBAS):c.842C>T (p.Pro281Leu) rs140256463 0.00001
NM_015915.5(ATL1):c.1247G>A (p.Arg416His) rs1395551564 0.00001
NM_015959.4(TMX2):c.392del (p.Leu131fs) rs758529293 0.00001
NM_016042.4(EXOSC3):c.475-12A>G rs370087266 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016180.5(SLC45A2):c.274A>G (p.Ser92Gly) rs755311638 0.00001
NM_016180.5(SLC45A2):c.454T>C (p.Phe152Leu) rs202120684 0.00001
NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) rs1486994359 0.00001
NM_016222.4(DDX41):c.517G>A (p.Gly173Arg) rs746166328 0.00001
NM_016222.4(DDX41):c.649T>C (p.Ser217Pro) rs376867329 0.00001
NM_016239.4(MYO15A):c.3866C>T (p.Pro1289Leu) rs192483691 0.00001
NM_016239.4(MYO15A):c.4216G>A (p.Glu1406Lys) rs759810756 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.4898T>C (p.Ile1633Thr) rs576399072 0.00001
NM_016239.4(MYO15A):c.5693G>A (p.Arg1898Gln) rs756752580 0.00001
NM_016239.4(MYO15A):c.6397A>G (p.Asn2133Asp) rs769491829 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_016239.4(MYO15A):c.6787G>A (p.Gly2263Ser) rs375459945 0.00001
NM_016277.5(RAB23):c.82C>T (p.Arg28Ter) rs765443042 0.00001
NM_016327.3(UPB1):c.38T>C (p.Leu13Ser) rs200688546 0.00001
NM_016341.4(PLCE1):c.2960A>G (p.His987Arg) rs762245091 0.00001
NM_016373.4(WWOX):c.1085G>A (p.Cys362Tyr) rs778218106 0.00001
NM_016373.4(WWOX):c.605+5G>A rs1039151413 0.00001
NM_016529.6(ATP8A2):c.145G>T (p.Asp49Tyr) rs864309608 0.00001
NM_016648.4(LARP7):c.552+1G>T rs200544616 0.00001
NM_017534.6(MYH2):c.5472+1G>A rs758888662 0.00001
NM_017547.4(FOXRED1):c.406C>T (p.Arg136Trp) rs373075574 0.00001
NM_017654.4(SAMD9):c.460C>T (p.Gln154Ter) rs767558735 0.00001
NM_017739.4(POMGNT1):c.1010T>C (p.Ile337Thr) rs138745073 0.00001
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His) rs762972459 0.00001
NM_017739.4(POMGNT1):c.385C>T (p.Arg129Trp) rs375431575 0.00001
NM_017763.6(RNF43):c.1111C>T (p.Arg371Ter) rs771831816 0.00001
NM_017775.4(TTC19):c.1A>G (p.Met1Val) rs749196122 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017780.4(CHD7):c.5390G>C (p.Gly1797Ala) rs780597592 0.00001
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His) rs1197494895 0.00001
NM_017791.3(FLVCR2):c.1318G>A (p.Gly440Ser) rs752732384 0.00001
NM_017837.4(PIGV):c.1415T>C (p.Leu472Pro) rs774605091 0.00001
NM_017837.4(PIGV):c.844_846del (p.Asp282del) rs2081360507 0.00001
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser) rs121908818 0.00001
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter) rs559590419 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_018062.4(FANCL):c.273+1G>C rs144729980 0.00001
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr) rs146513209 0.00001
NM_018082.6(POLR3B):c.2302C>T (p.Arg768Cys) rs371453512 0.00001
NM_018082.6(POLR3B):c.3173A>G (p.Tyr1058Cys) rs751459271 0.00001
NM_018129.4(PNPO):c.2T>C (p.Met1Thr) rs796052870 0.00001
NM_018136.5(ASPM):c.2977A>G (p.Lys993Glu) rs576139929 0.00001
NM_018297.4(NGLY1):c.930C>T (p.Gly310=) rs745814294 0.00001
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu) rs142500730 0.00001
NM_018389.5(SLC35C1):c.872C>T (p.Thr291Ile) rs751828447 0.00001
NM_018474.6(KIZ):c.3G>A (p.Met1Ile) rs1438134533 0.00001
NM_018668.5(VPS33B):c.96+1G>T rs1567232168 0.00001
NM_018699.4(PRDM5):c.670A>T (p.Lys224Ter) rs1064794819 0.00001
NM_018706.7(DHTKD1):c.1118C>T (p.Pro373Leu) rs556384043 0.00001
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004 0.00001
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys) rs587779411 0.00001
NM_018972.4(GDAP1):c.311-1G>A rs1370011538 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.458C>T (p.Pro153Leu) rs538412810 0.00001
NM_018972.4(GDAP1):c.767A>G (p.His256Arg) rs1476856429 0.00001
NM_019066.5(MAGEL2):c.2296C>T (p.Arg766Ter) rs1249139977 0.00001
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg) rs748354081 0.00001
NM_019109.5(ALG1):c.652C>T (p.Pro218Ser) rs528261173 0.00001
NM_019616.4(F7):c.443G>A (p.Arg148His) rs375134790 0.00001
NM_019842.4(KCNQ5):c.2725C>T (p.Arg909Ter) rs776643693 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 0.00001
NM_019892.6(INPP5E):c.1787G>C (p.Arg596Thr) rs765327224 0.00001
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.1682-3A>G rs760180709 0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020297.4(ABCC9):c.2815C>T (p.Arg939Trp) rs373890183 0.00001
NM_020320.5(RARS2):c.1650+5G>A rs750433723 0.00001
NM_020320.5(RARS2):c.517G>A (p.Asp173Asn) rs769045045 0.00001
NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala) rs752636698 0.00001
NM_020376.4(PNPLA2):c.1266G>A (p.Trp422Ter) rs944560685 0.00001
NM_020433.5(JPH2):c.421T>C (p.Tyr141His) rs387906897 0.00001
NM_020442.6(VARS2):c.1468C>T (p.Arg490Ter) rs778868393 0.00001
NM_020451.3(SELENON):c.1501-1G>A rs750138587 0.00001
NM_020451.3(SELENON):c.878A>G (p.His293Arg) rs776738184 0.00001
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958 0.00001
NM_020533.3(MCOLN1):c.681-19A>C rs768736321 0.00001
NM_020549.5(CHAT):c.1321G>A (p.Glu441Lys) rs121912816 0.00001
NM_020549.5(CHAT):c.1679G>A (p.Arg560His) rs121912819 0.00001
NM_020549.5(CHAT):c.243G>A (p.Trp81Ter) rs1384661323 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_020638.3(FGF23):c.107G>A (p.Trp36Ter) rs1064795205 0.00001
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu) rs193922704 0.00001
NM_020686.6(ABAT):c.538C>T (p.Arg180Trp) rs746589996 0.00001
NM_020738.4(KIDINS220):c.3585+1G>A rs775189420 0.00001
NM_020745.4(AARS2):c.959C>T (p.Ala320Val) rs201471937 0.00001
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly) rs776593168 0.00001
NM_020774.4(MIB1):c.1417C>T (p.Gln473Ter) rs1386314249 0.00001
NM_020778.5(ALPK3):c.182+1G>A rs1963449829 0.00001
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro) rs1355321952 0.00001
NM_020937.4(FANCM):c.1060C>T (p.Gln354Ter) rs1156577591 0.00001
NM_020944.3(GBA2):c.1905G>A (p.Thr635=) rs369401526 0.00001
NM_020975.6(RET):c.2437C>T (p.Arg813Trp) rs779996040 0.00001
NM_020975.6(RET):c.433G>A (p.Val145Ile) rs1311922451 0.00001
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln) rs1415420832 0.00001
NM_021098.3(CACNA1H):c.2230C>T (p.Arg744Ter) rs1437449624 0.00001
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977 0.00001
NM_021625.5(TRPV4):c.2211G>A (p.Trp737Ter) rs1035249096 0.00001
NM_021625.5(TRPV4):c.695G>A (p.Arg232His) rs769107613 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021922.3(FANCE):c.1114-8G>A rs878854342 0.00001
NM_021922.3(FANCE):c.1510-1G>A rs772678337 0.00001
NM_021930.6(RINT1):c.689+1G>T rs1790698966 0.00001
NM_021942.6(TRAPPC11):c.3014C>T (p.Pro1005Leu) rs764158202 0.00001
NM_021942.6(TRAPPC11):c.3189+1G>A rs1170374164 0.00001
NM_021954.4(GJA3):c.563A>G (p.Asn188Ser) rs140332366 0.00001
NM_021971.4(GMPPB):c.781C>T (p.Arg261Cys) rs746357591 0.00001
NM_022041.4(GAN):c.1456G>A (p.Glu486Lys) rs119485088 0.00001
NM_022041.4(GAN):c.806G>A (p.Arg269Gln) rs759581558 0.00001
NM_022124.6(CDH23):c.1369C>T (p.Arg457Trp) rs727504455 0.00001
NM_022124.6(CDH23):c.2398-1G>T rs751788879 0.00001
NM_022124.6(CDH23):c.3220G>A (p.Asp1074Asn) rs750452808 0.00001
NM_022124.6(CDH23):c.3580-11G>A rs769972347 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu) rs397517349 0.00001
NM_022124.6(CDH23):c.8012G>A (p.Gly2671Asp) rs779222449 0.00001
NM_022124.6(CDH23):c.902G>A (p.Arg301Gln) rs121908355 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu) rs758506791 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His) rs745367639 0.00001
NM_022132.5(MCCC2):c.302C>T (p.Ser101Phe) rs748028684 0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 0.00001
NM_022367.4(SEMA4A):c.1528C>T (p.Arg510Trp) rs1028250483 0.00001
NM_022370.4(ROBO3):c.733C>T (p.Arg245Trp) rs121918277 0.00001
NM_022445.4(TPK1):c.382C>T (p.Leu128Phe) rs760881424 0.00001
NM_022455.5(NSD1):c.4411C>G (p.Arg1471Gly) rs570278338 0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) rs777306476 0.00001
NM_022787.4(NMNAT1):c.542A>G (p.Tyr181Cys) rs748913297 0.00001
NM_024063.3(AFG2B):c.2066G>T (p.Gly689Val) rs777812455 0.00001
NM_024063.3(AFG2B):c.2087G>T (p.Cys696Phe) rs747249958 0.00001
NM_024079.5(ALG8):c.1134G>T (p.Trp378Cys) rs867450807 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) rs753390261 0.00001
NM_024301.5(FKRP):c.854A>C (p.Glu285Ala) rs963039919 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_024306.5(FA2H):c.691T>C (p.Tyr231His) rs878855081 0.00001
NM_024306.5(FA2H):c.782A>G (p.His261Arg) rs761645282 0.00001
NM_024312.5(GNPTAB):c.3571C>T (p.Arg1191Cys) rs1481471124 0.00001
NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys) rs11551664 0.00001
NM_024407.5(NDUFS7):c.415G>A (p.Asp139Asn) rs1171276645 0.00001
NM_024537.4(CARS2):c.649_651del (p.Glu217del) rs753472937 0.00001
NM_024537.4(CARS2):c.655G>A (p.Ala219Thr) rs727505361 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.730C>T (p.Gln244Ter) rs1463786931 0.00001
NM_024596.5(MCPH1):c.2214+2T>C rs575037500 0.00001
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778 0.00001
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985 0.00001
NM_024675.4(PALB2):c.2596G>T (p.Gly866Cys) rs780415750 0.00001
NM_024685.4(BBS10):c.539G>A (p.Gly180Glu) rs1555202697 0.00001
NM_024711.6(GIMAP6):c.257G>A (p.Trp86Ter) rs767832540 0.00001
NM_024818.6(UBA5):c.169A>G (p.Met57Val) rs532178791 0.00001
NM_024996.7(GFM1):c.1910-1G>A rs1462851267 0.00001
NM_024996.7(GFM1):c.1922C>A (p.Ala641Glu) rs1390685552 0.00001
NM_024996.7(GFM1):c.424del (p.Val142fs) rs886058120 0.00001
NM_024996.7(GFM1):c.455A>C (p.Gln152Pro) rs780319278 0.00001
NM_024996.7(GFM1):c.776A>G (p.Asn259Ser) rs375512235 0.00001
NM_025077.4(TOE1):c.745C>T (p.Arg249Trp) rs771979228 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_025103.4(IFT74):c.1054G>T (p.Gly352Cys) rs759662469 0.00001
NM_025129.5(FUZ):c.851G>T (p.Arg284Leu) rs368721486 0.00001
NM_025136.4(OPA3):c.123C>G (p.Ile41Met) rs763083098 0.00001
NM_025150.5(TARS2):c.1036C>T (p.Arg346Cys) rs749476185 0.00001
NM_025150.5(TARS2):c.1838C>T (p.Pro613Leu) rs767519084 0.00001
NM_025150.5(TARS2):c.326G>A (p.Arg109Gln) rs760526545 0.00001
NM_025216.3(WNT10A):c.283G>A (p.Glu95Lys) rs318240759 0.00001
NM_025216.3(WNT10A):c.403G>A (p.Ala135Thr) rs1402990329 0.00001
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg) rs775380022 0.00001
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu) rs368364131 0.00001
NM_025243.4(SLC19A3):c.1314+1G>A rs141957107 0.00001
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu) rs764053964 0.00001
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln) rs200876642 0.00001
NM_031885.5(BBS2):c.241G>T (p.Gly81Cys) rs750506474 0.00001
NM_031885.5(BBS2):c.471G>A (p.Thr157=) rs749983428 0.00001
NM_031885.5(BBS2):c.98C>A (p.Ala33Asp) rs797045155 0.00001
NM_032043.3(BRIP1):c.1A>G (p.Met1Val) rs764585550 0.00001
NM_032043.3(BRIP1):c.206-2A>G rs786203700 0.00001
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys) rs764803896 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.2905+3A>G rs1555573247 0.00001
NM_032043.3(BRIP1):c.2906-1G>A rs773639563 0.00001
NM_032043.3(BRIP1):c.3525dup (p.Ile1176fs) rs777367075 0.00001
NM_032043.3(BRIP1):c.627+5G>A rs745727200 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 0.00001
NM_032380.5(GFM2):c.64-16_64-3del rs751852874 0.00001
NM_032608.7(MYO18B):c.3775+1G>C rs539007966 0.00001
NM_032866.5(CGNL1):c.2322T>C (p.His774=) rs483352760 0.00001
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly) rs772548770 0.00001
NM_033109.5(PNPT1):c.337C>T (p.Pro113Ser) rs930190521 0.00001
NM_033109.5(PNPT1):c.517G>A (p.Ala173Thr) rs774425075 0.00001
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NM_033380.3(COL4A5):c.4891C>T (p.Arg1631Cys) rs865842167 0.00001
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683 0.00001
NM_033453.4(ITPA):c.519del (p.Asn173fs) rs748042110 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_052845.4(MMAB):c.398C>T (p.Ser133Phe) rs749936057 0.00001
NM_052845.4(MMAB):c.577G>A (p.Glu193Lys) rs749758687 0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His) rs756195708 0.00001
NM_052845.4(MMAB):c.625G>A (p.Val209Met) rs200903284 0.00001
NM_052874.5(STX1B):c.845T>C (p.Ile282Thr) rs763428520 0.00001
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr) rs1335391766 0.00001
NM_053025.4(MYLK):c.535C>T (p.Arg179Ter) rs761508149 0.00001
NM_053025.4(MYLK):c.901C>T (p.Gln301Ter) rs545515041 0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_054012.4(ASS1):c.206T>C (p.Val69Ala) rs771594651 0.00001
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643 0.00001
NM_054012.4(ASS1):c.577G>A (p.Gly193Arg) rs1311437424 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 0.00001
NM_054012.4(ASS1):c.808G>C (p.Glu270Gln) rs775163147 0.00001
NM_054012.4(ASS1):c.892G>A (p.Glu298Lys) rs1372482894 0.00001
NM_058216.3(RAD51C):c.458G>A (p.Gly153Asp) rs765730332 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791 0.00001
NM_058216.3(RAD51C):c.905-2_905-1del rs587781995 0.00001
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) rs730881932 0.00001
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376 0.00001
NM_080632.3(UPF3B):c.846+1G>A rs373920032 0.00001
NM_080680.3(COL11A2):c.2179G>A (p.Gly727Arg) rs768569721 0.00001
NM_080680.3(COL11A2):c.3850C>T (p.Arg1284Trp) rs886061315 0.00001
NM_080680.3(COL11A2):c.939+1G>A rs750173113 0.00001
NM_080916.3(DGUOK):c.757_759del (p.Asn253del) rs775276142 0.00001
NM_130837.3(OPA1):c.1033C>T (p.Arg345Trp) rs780333963 0.00001
NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln) rs535885178 0.00001
NM_130837.3(OPA1):c.3048A>C (p.Ter1016Tyr) rs143929819 0.00001
NM_133259.4(LRPPRC):c.2398G>A (p.Gly800Ser) rs747400412 0.00001
NM_133259.4(LRPPRC):c.695A>G (p.Glu232Gly) rs765911841 0.00001
NM_138364.4(PRMT9):c.773A>T (p.Asp258Val) rs200956405 0.00001
NM_138387.4(G6PC3):c.926T>G (p.Phe309Cys) rs750695182 0.00001
NM_138395.4(MARS2):c.175C>T (p.His59Tyr) rs754121141 0.00001
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly) rs796052084 0.00001
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr) rs777601935 0.00001
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln) rs796052090 0.00001
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala) rs779492256 0.00001
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr) rs758795356 0.00001
NM_138691.3(TMC1):c.596A>G (p.Asn199Ser) rs756960425 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.11284C>A (p.Pro3762Thr) rs1229349983 0.00001
NM_138694.4(PKHD1):c.11630del (p.Leu3877fs) rs747170980 0.00001
NM_138694.4(PKHD1):c.11740C>T (p.Arg3914Ter) rs761704401 0.00001
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508 0.00001
NM_138694.4(PKHD1):c.1409G>T (p.Gly470Val) rs776845008 0.00001
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828 0.00001
NM_138694.4(PKHD1):c.2167C>T (p.Arg723Cys) rs794727366 0.00001
NM_138694.4(PKHD1):c.23T>C (p.Leu8Pro) rs750588859 0.00001
NM_138694.4(PKHD1):c.2638C>T (p.Arg880Cys) rs752646435 0.00001
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516 0.00001
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp) rs757854282 0.00001
NM_138694.4(PKHD1):c.3383T>C (p.Ile1128Thr) rs78624439 0.00001
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp) rs748540413 0.00001
NM_138694.4(PKHD1):c.428A>G (p.Tyr143Cys) rs141093030 0.00001
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 0.00001
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys) rs752994816 0.00001
NM_138694.4(PKHD1):c.8206T>G (p.Trp2736Gly) rs764880309 0.00001
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu) rs747322128 0.00001
NM_138694.4(PKHD1):c.8411T>A (p.Met2804Lys) rs794727759 0.00001
NM_138694.4(PKHD1):c.8480T>C (p.Leu2827Pro) rs776157924 0.00001
NM_138694.4(PKHD1):c.9152T>C (p.Ile3051Thr) rs1374086784 0.00001
NM_138694.4(PKHD1):c.9461A>G (p.Asp3154Gly) rs1477456222 0.00001
NM_138694.4(PKHD1):c.9619G>A (p.Ala3207Thr) rs1242089464 0.00001
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
NM_139242.4(MTFMT):c.434T>G (p.Val145Gly) rs1064793194 0.00001
NM_139343.3(BIN1):c.1461+1G>A rs764951306 0.00001
NM_144573.4(NEXN):c.688-1G>C rs761030548 0.00001
NM_144585.4(SLC22A12):c.1216C>T (p.Arg406Cys) rs770757659 0.00001
NM_144672.4(OTOA):c.1249C>T (p.Leu417Phe) rs764182550 0.00001
NM_144687.4(NLRP12):c.2360dup (p.Met787fs) rs768447330 0.00001
NM_144991.3(TSPEAR):c.1160C>A (p.Ala387Glu) rs782571753 0.00001
NM_145200.5(CABP4):c.757C>T (p.Arg253Ter) rs761991624 0.00001
NM_145207.3(AFG2A):c.1877G>C (p.Trp626Ser) rs375343753 0.00001
NM_145207.3(AFG2A):c.2140C>T (p.Arg714Ter) rs754135389 0.00001
NM_145207.3(AFG2A):c.2321G>A (p.Arg774His) rs539850739 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn) rs751780827 0.00001
NM_152305.3(POGLUT1):c.922T>C (p.Trp308Arg) rs763045710 0.00001
NM_152393.4(KLHL40):c.100G>C (p.Asp34His) rs778565563 0.00001
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys) rs121908284 0.00001
NM_152443.3(RDH12):c.671C>T (p.Thr224Ile) rs200302290 0.00001
NM_152490.5(B3GALNT2):c.740G>A (p.Gly247Glu) rs367543072 0.00001
NM_152490.5(B3GALNT2):c.802G>A (p.Val268Met) rs367543074 0.00001
NM_152564.5(VPS13B):c.4673T>A (p.Ile1558Asn) rs138417551 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys) rs386834104 0.00001
NM_152564.5(VPS13B):c.7051-1G>A rs930144563 0.00001
NM_152618.3(BBS12):c.1276T>C (p.Cys426Arg) rs771456483 0.00001
NM_152618.3(BBS12):c.1394T>C (p.Val465Ala) rs1357690062 0.00001
NM_152618.3(BBS12):c.1504G>T (p.Ala502Ser) rs142593414 0.00001
NM_152618.3(BBS12):c.1574G>A (p.Arg525His) rs776730549 0.00001
NM_152618.3(BBS12):c.65T>C (p.Phe22Ser) rs565073445 0.00001
NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His) rs769611275 0.00001
NM_152906.7(TANGO2):c.703G>A (p.Gly235Ser) rs771969240 0.00001
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg) rs750033880 0.00001
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100 0.00001
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val) rs368001837 0.00001
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro) rs777276873 0.00001
NM_153240.5(NPHP3):c.3422T>C (p.Leu1141Pro) rs1057521090 0.00001
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys) rs150840924 0.00001
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) rs267607598 0.00001
NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) rs28928902 0.00001
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met) rs57629361 0.00001
NM_170707.4(LMNA):c.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.357-3748C>T rs1048086299 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.659G>A (p.Arg220His) rs780066296 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys) rs897976020 0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr) rs1328584680 0.00001
NM_172250.3(MMAA):c.833G>A (p.Gly278Asp) rs761964238 0.00001
NM_173076.3(ABCA12):c.7276C>T (p.Arg2426Trp) rs771593783 0.00001
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn) rs538983393 0.00001
NM_173483.4(CYP4F22):c.845G>A (p.Arg282Gln) rs1368806849 0.00001
NM_173630.4(RTTN):c.2552C>T (p.Ala851Val) rs374285374 0.00001
NM_173630.4(RTTN):c.6301T>C (p.Cys2101Arg) rs201253231 0.00001
NM_173689.7(CRB2):c.3219C>G (p.Asp1073Glu) rs1443443959 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.643C>T (p.Arg215Cys) rs753505066 0.00001
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys) rs193922479 0.00001
NM_176787.5(PIGN):c.1505A>G (p.Gln502Arg) rs748821498 0.00001
NM_176787.5(PIGN):c.2237T>G (p.Ile746Arg) rs771266203 0.00001
NM_176787.5(PIGN):c.562C>T (p.His188Tyr) rs773629540 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504 0.00001
NM_177398.4(LMX1A):c.1106T>C (p.Ile369Thr) rs763320093 0.00001
NM_182943.3(PLOD2):c.1856G>A (p.Arg619His) rs121434461 0.00001
NM_183050.4(BCKDHB):c.302G>A (p.Gly101Asp) rs398124571 0.00001
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576 0.00001
NM_183050.4(BCKDHB):c.506A>G (p.Tyr169Cys) rs398124580 0.00001
NM_194248.3(OTOF):c.3277G>A (p.Glu1093Lys) rs1064795233 0.00001
NM_194248.3(OTOF):c.5374C>T (p.Arg1792Cys) rs142111099 0.00001
NM_198253.3(TERT):c.2080G>A (p.Val694Met) rs121918662 0.00001
NM_198428.3(BBS9):c.761A>G (p.Asn254Ser) rs1279852557 0.00001
NM_198576.4(AGRN):c.5023G>A (p.Gly1675Ser) rs764160563 0.00001
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln) rs1445637165 0.00001
NM_201253.3(CRB1):c.1892A>G (p.Tyr631Cys) rs1271816211 0.00001
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg) rs749746650 0.00001
NM_201253.3(CRB1):c.2842+5G>A rs773914330 0.00001
NM_201253.3(CRB1):c.3017C>T (p.Ser1006Phe) rs878853367 0.00001
NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp) rs1665481687 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_201253.3(CRB1):c.4006-10A>G rs766850702 0.00001
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro) rs587783654 0.00001
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp) rs1003615909 0.00001
NM_201548.5(CERKL):c.613+4_613+5del rs766131721 0.00001
NM_205861.3(DHDDS):c.724G>A (p.Glu242Lys) rs1229969030 0.00001
NM_206933.4(USH2A):c.1040A>G (p.Asp347Gly) rs762384558 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.12739G>A (p.Gly4247Arg) rs397517982 0.00001
NM_206933.4(USH2A):c.13514A>G (p.Tyr4505Cys) rs1268140508 0.00001
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345 0.00001
NM_206933.4(USH2A):c.1397G>T (p.Gly466Val) rs1553250627 0.00001
NM_206933.4(USH2A):c.14426C>T (p.Thr4809Ile) rs770553471 0.00001
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr) rs1393503590 0.00001
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg) rs1037325220 0.00001
NM_206933.4(USH2A):c.3176C>T (p.Pro1059Leu) rs547581739 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu) rs751479180 0.00001
NM_206933.4(USH2A):c.4280T>C (p.Leu1427Pro) rs373130157 0.00001
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg) rs139311927 0.00001
NM_206933.4(USH2A):c.4384A>C (p.Thr1462Pro) rs757315203 0.00001
NM_206933.4(USH2A):c.5018T>C (p.Leu1673Pro) rs1162305984 0.00001
NM_206933.4(USH2A):c.5298+5G>A rs1176314553 0.00001
NM_206933.4(USH2A):c.5438_5443del (p.Ser1813_Ser1815delinsCys) rs752992414 0.00001
NM_206933.4(USH2A):c.653T>A (p.Val218Glu) rs397518026 0.00001
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu) rs764182950 0.00001
NM_206937.2(LIG4):c.2584C>T (p.His862Tyr) rs201176444 0.00001
NM_207122.2(EXT2):c.1305+2T>C rs202153611 0.00001
NM_207361.6(FREM2):c.8176+2dup rs779126010 0.00001
NM_213599.3(ANO5):c.169C>T (p.Arg57Trp) rs1323349209 0.00001
NM_213599.3(ANO5):c.1982T>C (p.Leu661Pro) rs1472414854 0.00001
NM_213599.3(ANO5):c.368C>T (p.Ser123Leu) rs575008764 0.00001
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
GRCh37/hg19 19p13.2(chr19:11210898-11222316)x3
GRCh37/hg19 2q21.1(chr2:131477947-131956516)x1
GRCh37/hg19 5p15.2(chr5:11691081-11883119)x1
GRCh38/hg38 10q11.22-11.23(chr10:45999930-49937908)x1
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
GRCh38/hg38 16p12.2(chr16:21826171-22396610)x1
NC_000003.12:g.49422514T>C rs1434994550
NC_000009.12:g.35657873G>A rs757576534
NC_000010.11:g.71645936_71645956del rs397517305
NC_000011.10:g.47338688G>C rs773882783
NC_000014.9:g.95108007T>C rs1891604387
NC_000016.10:g.23626399T>C rs1060502787
NC_000016.10:g.5071998A>G rs794726944
NC_000018.9:g.77748581_77748614del34 rs535089924
NC_000019.10:g.11089393C>T rs879254364
NC_000019.10:g.11089394_11089395delinsTTCTGCAAACTCCT rs879254365
NC_000019.10:g.11089397C>T
NC_000019.10:g.11089400C>A rs879254368
NC_000019.10:g.11089409C>G rs875989887
NC_000019.10:g.11089409C>T rs875989887
NC_000019.10:g.11089411T>C rs879254372
NC_000019.10:g.11089411del rs387906307
NC_000019.10:g.11089413C>G rs879254374
NC_000019.10:g.11089448T>C rs747068848
NC_000019.10:g.11089452G>A rs944580031
NC_000023.11:g.38352581C>T rs1555971006
NC_000023.11:g.38352582C>T rs1555971008
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-CYB):m.1095T>C rs267606618
NC_012920.1(MT-CYB):m.14743A>G rs527236161
NC_012920.1(MT-CYB):m.14891C>G rs386419981
NC_012920.1(MT-CYB):m.14974C>G rs527236168
NC_012920.1(MT-CYB):m.15349C>A rs527236201
NC_012920.1(MT-CYB):m.588T>C rs1603218449
NC_012920.1(MT-ND1):m.1630A>G rs1603218588
NC_012920.1(MT-TE):m.14732A>G rs527236202
NC_012920.1(MT-TT):m.15890C>A rs527236196
NC_012920.1(MT-TT):m.15932T>G rs527236199
NM_000016.6(ACADM):c.1034A>T (p.Asp345Val) rs771978135
NM_000016.6(ACADM):c.1046G>T (p.Arg349Leu) rs760335676
NM_000016.6(ACADM):c.241G>A (p.Ala81Thr) rs1448376709
NM_000016.6(ACADM):c.346T>G (p.Cys116Gly) rs875989863
NM_000016.6(ACADM):c.353G>C (p.Gly118Ala) rs1647188699
NM_000016.6(ACADM):c.424AAG[2] (p.Lys144del) rs875989857
NM_000016.6(ACADM):c.461T>G (p.Leu154Trp) rs1553123263
NM_000016.6(ACADM):c.473A>G (p.Tyr158Cys) rs1553123858
NM_000016.6(ACADM):c.494C>T (p.Ala165Val) rs1260394550
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.536_568del (p.Lys179_Lys189del) rs1553123869
NM_000016.6(ACADM):c.592G>A (p.Ala198Thr) rs1647485086
NM_000016.6(ACADM):c.622G>T (p.Asp208Tyr) rs983879715
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.6(ACADM):c.890A>G (p.Asp297Gly)
NM_000016.6(ACADM):c.946-6T>G rs765793260
NM_000017.4(ACADS):c.1054G>A (p.Ala352Thr) rs202078273
NM_000017.4(ACADS):c.1153G>T (p.Ala385Ser) rs202124189
NM_000017.4(ACADS):c.328G>A (p.Ala110Thr) rs780571371
NM_000017.4(ACADS):c.505A>C (p.Thr169Pro) rs777002501
NM_000017.4(ACADS):c.910dup (p.Leu304fs) rs1057516606
NM_000017.4(ACADS):c.974G>A (p.Arg325Gln) rs932525260
NM_000018.4(ACADVL):c.1019G>T (p.Gly340Val) rs934797393
NM_000018.4(ACADVL):c.1054A>G (p.Met352Val)
NM_000018.4(ACADVL):c.1055T>C (p.Met352Thr)
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1081G>A (p.Asp361Asn) rs1331739604
NM_000018.4(ACADVL):c.1103A>C (p.Gln368Pro) rs776063244
NM_000018.4(ACADVL):c.1276G>A (p.Ala426Thr) rs1419478766
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val) rs2071345754
NM_000018.4(ACADVL):c.1321G>A (p.Gly441Ser) rs2071346777
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1376G>C (p.Arg459Pro) rs751995154
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1384G>A (p.Glu462Lys) rs2071355499
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1616C>A (p.Ala539Asp) rs781613690
NM_000018.4(ACADVL):c.1663AAG[1] (p.Lys556del) rs866424446
NM_000018.4(ACADVL):c.1678+3_1678+6del rs759135941
NM_000018.4(ACADVL):c.1808del (p.Cys603fs) rs2142990894
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.1923G>C (p.Leu641Phe) rs1452402269
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.260T>C (p.Val87Ala) rs796051907
NM_000018.4(ACADVL):c.272C>A (p.Pro91Gln) rs2071160066
NM_000018.4(ACADVL):c.277G>A (p.Val93Met)
NM_000018.4(ACADVL):c.425T>C (p.Phe142Ser) rs398123088
NM_000018.4(ACADVL):c.428G>C (p.Gly143Ala) rs1458941582
NM_000018.4(ACADVL):c.430C>G (p.Leu144Val)
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu) rs398123089
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu) rs2071227581
NM_000018.4(ACADVL):c.533T>C (p.Leu178Pro) rs1131691808
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp) rs796051909
NM_000018.4(ACADVL):c.605T>A (p.Leu202His) rs398123090
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.623G>A (p.Gly208Glu) rs2071251302
NM_000018.4(ACADVL):c.638C>T (p.Ala213Val) rs2071252145
NM_000018.4(ACADVL):c.640T>G (p.Phe214Val) rs1192969297
NM_000018.4(ACADVL):c.689C>T (p.Thr230Ile) rs1241935771
NM_000018.4(ACADVL):c.722A>G (p.Tyr241Cys) rs575789958
NM_000018.4(ACADVL):c.739A>G (p.Lys247Glu) rs387906253
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.869G>A (p.Gly290Asp)
NM_000019.4(ACAT1):c.121-3C>G rs1591361919
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.163_167delinsAA (p.Phe55_Leu56delinsLys) rs1591361995
NM_000019.4(ACAT1):c.248AAG[2] (p.Glu85del) rs866364527
NM_000019.4(ACAT1):c.299G>A (p.Gly100Glu) rs1591362472
NM_000019.4(ACAT1):c.826+3_826+6del
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) rs1592224349
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met) rs753480401
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) rs1940959480
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) rs1057523573
NM_000020.3(ACVRL1):c.154A>G (p.Thr52Ala) rs1131691346
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NM_000020.3(ACVRL1):c.526-6C>G rs1438077609
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys) rs1555152796
NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) rs754283265
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val) rs1940804461
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) rs1565594217
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) rs863223411
NM_000021.4(PSEN1):c.703C>G (p.Leu235Val) rs63751130
NM_000022.4(ADA):c.1078+2T>C
NM_000022.4(ADA):c.556G>A (p.Glu186Lys) rs1555844416
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.246C>A (p.Ser82Arg) rs1598265282
NM_000023.4(SGCA):c.271G>T (p.Gly91Cys) rs890921874
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.304G>T (p.Val102Phe)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.541C>A (p.Arg181Ser) rs574376340
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.644C>T (p.Ser215Phe) rs750844090
NM_000023.4(SGCA):c.850C>G (p.Arg284Gly) rs137852623
NM_000026.4(ADSL):c.-21T>A
NM_000026.4(ADSL):c.568C>G (p.Arg190Gly)
NM_000027.4(AGA):c.179G>A (p.Gly60Asp) rs121964907
NM_000027.4(AGA):c.365C>A (p.Thr122Lys) rs771563230
NM_000027.4(AGA):c.537C>A (p.Cys179Ter) rs748171793
NM_000027.4(AGA):c.698+1G>T rs1057517175
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg) rs747043550
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp) rs180177217
NM_000030.3(AGXT):c.781C>G (p.His261Asp) rs778567956
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) rs180177271
NM_000032.5(ALAS2):c.1355G>T (p.Arg452Leu)
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del) rs1603234766
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro) rs2091762647
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg) rs1557054776
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His) rs2091764510
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp) rs2091772324
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala) rs1603236086
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His) rs1557055447
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.314C>T (p.Thr105Ile) rs2148388980
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro) rs2091708025
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu) rs1569540710
NM_000033.4(ABCD1):c.662A>C (p.Asp221Ala) rs1569540711
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000033.4(ABCD1):c.839G>A (p.Arg280His) rs781904944
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro) rs781904944
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.900+2T>G rs2091712381
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) rs1557053241
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu) rs200585150
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup) rs1376128325
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro) rs1554702433
NM_000038.6(APC):c.1613A>T (p.Glu538Val) rs1561555761
NM_000038.6(APC):c.1902T>G (p.Ser634Arg) rs876659460
NM_000038.6(APC):c.3084T>A (p.Ser1028Arg) rs876660265
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000038.6(APC):c.423-3T>A rs587782293
NM_000038.6(APC):c.423-3_423-2del rs863225354
NM_000038.6(APC):c.423-8A>G rs2149614206
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.645+1G>A rs863225370
NM_000038.6(APC):c.8446C>T (p.Arg2816Ter)
NM_000038.6(APC):c.8488dup (p.Ser2830fs)
NM_000039.3(APOA1):c.548T>C (p.Leu183Pro)
NM_000039.3(APOA1):c.85dup (p.Gln29fs) rs753348565
NM_000043.6(FAS):c.536T>G (p.Leu179Arg) rs1554851718
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)
NM_000045.4(ARG1):c.428A>G (p.Gln143Arg) rs754259099
NM_000045.4(ARG1):c.860AAG[1] (p.Glu288del) rs1399124034
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile) rs1554079311
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met) rs1057520739
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu) rs906245021
NM_000046.5(ARSB):c.1493T>C (p.Leu498Pro) rs774358117
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp) rs1554069655
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys) rs1554032205
NM_000046.5(ARSB):c.206C>T (p.Thr69Met) rs1554032175
NM_000046.5(ARSB):c.323G>T (p.Gly108Val) rs768802200
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu) rs1435155976
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg) rs779378413
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu) rs1554079333
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser) rs749989641
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro) rs727503809
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg) rs762614315
NM_000048.4(ASL):c.1080G>C (p.Met360Ile) rs1786857910
NM_000048.4(ASL):c.1297A>C (p.Ser433Arg) rs1554328459
NM_000048.4(ASL):c.1300G>T (p.Val434Leu) rs773071023
NM_000048.4(ASL):c.1354A>T (p.Ile452Phe)
NM_000048.4(ASL):c.437G>A (p.Arg146Gln) rs796051931
NM_000048.4(ASL):c.503G>A (p.Arg168His) rs727503811
NM_000048.4(ASL):c.539T>G (p.Leu180Arg) rs1057141162
NM_000048.4(ASL):c.571C>G (p.Arg191Gly) rs143508372
NM_000048.4(ASL):c.675C>G (p.Ile225Met) rs1554327265
NM_000048.4(ASL):c.718+5G>A rs869312990
NM_000049.4(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.4(ASPA):c.428T>C (p.Ile143Thr) rs777936704
NM_000049.4(ASPA):c.542C>T (p.Pro181Leu) rs1335267315
NM_000049.4(ASPA):c.731A>T (p.His244Leu)
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro) rs1555538144
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser) rs786203230
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr) rs876660661
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.2466+5G>C rs1064795969
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.2838G>T (p.Met946Ile) rs1317505466
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val) rs758708495
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3153+5G>C rs1591608756
NM_000051.4(ATM):c.3284+3A>G rs1591610398
NM_000051.4(ATM):c.3529T>C (p.Cys1177Arg) rs2135669298
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser) rs864622654
NM_000051.4(ATM):c.3994-160T>C rs2082548304
NM_000051.4(ATM):c.4777-10_4777-7delinsCTCTTTTAGTTACATTTACATTTTAGTTAA rs1555101600
NM_000051.4(ATM):c.4888G>A (p.Asp1630Asn) rs1555101921
NM_000051.4(ATM):c.4910-2A>T rs1555103156
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe) rs1057523385
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu) rs373789346
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys) rs1555110591
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6198+3A>G rs786202092
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly) rs1565520641
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000051.4(ATM):c.7013T>C (p.Leu2338Pro) rs1555120997
NM_000051.4(ATM):c.7307+2dup rs2086004268
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
NM_000051.4(ATM):c.743G>T (p.Arg248Leu) rs769166447
NM_000051.4(ATM):c.7630-3C>G rs587782448
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.7928-2A>G rs864622610
NM_000051.4(ATM):c.8150A>G (p.Lys2717Arg) rs1555127353
NM_000051.4(ATM):c.8151G>A (p.Lys2717=) rs1591192550
NM_000051.4(ATM):c.8268G>A (p.Lys2756=) rs1555128642
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn) rs1555128642
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.4(ATM):c.8494C>A (p.Arg2832Ser)
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr) rs2137038745
NM_000051.4(ATM):c.8732C>A (p.Thr2911Asn)
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000052.7(ATP7A):c.1329del (p.Leu444fs) rs2149083474
NM_000052.7(ATP7A):c.1885G>C (p.Ala629Pro) rs72554639
NM_000052.7(ATP7A):c.2172G>T (p.Gln724His) rs797045348
NM_000052.7(ATP7A):c.2183G>A (p.Gly728Asp) rs797045350
NM_000052.7(ATP7A):c.2917-4A>G rs2149104823
NM_000052.7(ATP7A):c.3002C>T (p.Pro1001Leu) rs797045365
NM_000052.7(ATP7A):c.3801+4A>G rs797045387
NM_000053.4(ATP7B):c.-210A>T
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2069C>T (p.Pro690Leu) rs1555291809
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2120A>G (p.Gln707Arg)
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2132G>A (p.Gly711Glu) rs2139545313
NM_000053.4(ATP7B):c.2182A>G (p.Asn728Asp)
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys) rs1202766392
NM_000053.4(ATP7B):c.2279C>T (p.Pro760Leu) rs766907687
NM_000053.4(ATP7B):c.2486A>T (p.Asp829Val)
NM_000053.4(ATP7B):c.2507G>A (p.Gly836Glu) rs773809011
NM_000053.4(ATP7B):c.254G>A (p.Gly85Asp)
NM_000053.4(ATP7B):c.254G>C (p.Gly85Ala)
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2621C>A (p.Ala874Glu) rs121907994
NM_000053.4(ATP7B):c.2662A>T (p.Thr888Ser) rs1455758826
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2720A>G (p.Gln907Arg)
NM_000053.4(ATP7B):c.2732C>T (p.Ala911Val) rs1014184765
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2827G>T (p.Gly943Cys) rs28942076
NM_000053.4(ATP7B):c.2939G>A (p.Cys980Tyr) rs1038582488
NM_000053.4(ATP7B):c.2999G>T (p.Gly1000Val)
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro) rs587783307
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) rs2139048200
NM_000053.4(ATP7B):c.3059A>G (p.Lys1020Arg) rs2139046115
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3203A>G (p.Glu1068Gly) rs1555286478
NM_000053.4(ATP7B):c.3209C>G (p.Pro1070Arg)
NM_000053.4(ATP7B):c.3220G>A (p.Ala1074Thr)
NM_000053.4(ATP7B):c.3266G>A (p.Gly1089Glu) rs1555285911
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3296G>A (p.Gly1099Asp)
NM_000053.4(ATP7B):c.3317T>A (p.Val1106Asp) rs775541743
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3562C>T (p.Leu1188Phe)
NM_000053.4(ATP7B):c.3638G>T (p.Gly1213Val) rs1555284582
NM_000053.4(ATP7B):c.3767A>G (p.Gln1256Arg) rs1555283946
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val) rs1375884723
NM_000053.4(ATP7B):c.3836A>G (p.Asp1279Gly) rs778914828
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly) rs1593645393
NM_000053.4(ATP7B):c.3958A>G (p.Arg1320Gly) rs2138561490
NM_000053.4(ATP7B):c.3971A>G (p.Asn1324Ser) rs760285767
NM_000053.4(ATP7B):c.4007T>C (p.Ile1336Thr)
NM_000053.4(ATP7B):c.4063G>A (p.Gly1355Ser) rs1555282751
NM_000053.4(ATP7B):c.4106C>T (p.Ser1369Leu) rs1555282678
NM_000053.4(ATP7B):c.4118T>C (p.Leu1373Pro) rs780811477
NM_000053.4(ATP7B):c.4125-2A>G rs1555282347
NM_000053.4(ATP7B):c.4309A>T (p.Lys1437Ter)
NM_000053.4(ATP7B):c.4339dup (p.Asp1447fs) rs1345677703
NM_000053.4(ATP7B):c.4396T>C (p.Ter1466Arg)
NM_000057.4(BLM):c.1221-2A>C rs1555419779
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2672G>A (p.Gly891Glu) rs763471784
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr) rs758311406
NM_000057.4(BLM):c.2T>C (p.Met1Thr) rs1057516593
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.98+2dup rs1555418016
NM_000059.4(BRCA2):c.425+2T>C rs876661045
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.473C>T (p.Ser158Leu) rs80358701
NM_000059.4(BRCA2):c.475+4del rs276174848
NM_000059.4(BRCA2):c.516G>A (p.Lys172=) rs80359790
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly) rs397507359
NM_000059.4(BRCA2):c.68-2A>G rs769152395
NM_000059.4(BRCA2):c.681+1G>A rs398122565
NM_000059.4(BRCA2):c.6849del (p.Ser2284fs) rs761744738
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter) rs1555285146
NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs) rs1566236904
NM_000059.4(BRCA2):c.6938-6_6938-3del rs1566237728
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7529T>C (p.Leu2510Pro) rs80358979
NM_000059.4(BRCA2):c.7682A>C (p.Gln2561Pro) rs55647716
NM_000059.4(BRCA2):c.7685T>G (p.Phe2562Cys) rs587782715
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.4(BRCA2):c.7787G>A (p.Gly2596Glu) rs1064795140
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.7796A>G (p.Glu2599Gly) rs780715340
NM_000059.4(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.4(BRCA2):c.7832A>G (p.Asp2611Gly) rs80359010
NM_000059.4(BRCA2):c.7847C>T (p.Ser2616Phe) rs1174303167
NM_000059.4(BRCA2):c.7857G>C (p.Trp2619Cys) rs80359011
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.4(BRCA2):c.7874G>T (p.Arg2625Ile) rs864622552
NM_000059.4(BRCA2):c.7940T>C (p.Leu2647Pro) rs80359021
NM_000059.4(BRCA2):c.7958T>C (p.Leu2653Pro) rs80359022
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.4(BRCA2):c.7976+5G>A rs786201180
NM_000059.4(BRCA2):c.7978T>G (p.Tyr2660Asp) rs80359029
NM_000059.4(BRCA2):c.8059G>T (p.Val2687Phe) rs80359044
NM_000059.4(BRCA2):c.8162T>A (p.Leu2721His) rs80359061
NM_000059.4(BRCA2):c.8165C>T (p.Thr2722Ile) rs80359062
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn) rs41293511
NM_000059.4(BRCA2):c.8168A>C (p.Asp2723Ala) rs41293513
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.4(BRCA2):c.8229_8243del (p.Arg2744_Gly2748del) rs80359698
NM_000059.4(BRCA2):c.8243G>T (p.Gly2748Val) rs80359071
NM_000059.4(BRCA2):c.8342A>G (p.Asn2781Ser) rs1434821822
NM_000059.4(BRCA2):c.8342A>T (p.Asn2781Ile) rs1434821822
NM_000059.4(BRCA2):c.8351G>T (p.Arg2784Leu) rs80359076
NM_000059.4(BRCA2):c.8362T>C (p.Trp2788Arg) rs80359079
NM_000059.4(BRCA2):c.8363G>C (p.Trp2788Ser) rs80359080
NM_000059.4(BRCA2):c.8375T>C (p.Leu2792Pro) rs28897751
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu) rs80359083
NM_000059.4(BRCA2):c.8471G>C (p.Arg2824Thr) rs431825366
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8487+3A>G rs81002806
NM_000059.4(BRCA2):c.8754+4A>G rs81002893
NM_000059.4(BRCA2):c.8954-3C>G rs81002844
NM_000059.4(BRCA2):c.8975_9100del (p.Pro2992_Thr3033del) rs80359736
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9008G>A (p.Gly3003Glu) rs1566253139
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp) rs397507416
NM_000059.4(BRCA2):c.9217G>T (p.Asp3073Tyr) rs876658262
NM_000059.4(BRCA2):c.9218A>G (p.Asp3073Gly) rs80359186
NM_000059.4(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.4(BRCA2):c.9256+2T>C rs1555288591
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro) rs28897758
NM_000059.4(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.4(BRCA2):c.9364G>C (p.Ala3122Pro) rs587782313
NM_000059.4(BRCA2):c.9372C>A (p.Asn3124Lys) rs1420566833
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000059.4(BRCA2):c.9437T>C (p.Phe3146Ser) rs786202000
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter) rs80359251
NM_000064.4(C3):c.3303C>G (p.Cys1101Trp) rs1236557685
NM_000069.3(CACNA1S):c.1678G>T (p.Ala560Ser) rs763794604
NM_000069.3(CACNA1S):c.1949-8_1986del
NM_000069.3(CACNA1S):c.1984G>C (p.Asp662His)
NM_000069.3(CACNA1S):c.2063+1G>A rs1407484817
NM_000069.3(CACNA1S):c.2158-2A>G rs2102135936
NM_000069.3(CACNA1S):c.2491-1G>T rs1558067283
NM_000069.3(CACNA1S):c.2689A>G (p.Arg897Gly) rs1572039465
NM_000069.3(CACNA1S):c.3667-1G>A rs1660735523
NM_000069.3(CACNA1S):c.3715C>T (p.Arg1239Cys)
NM_000069.3(CACNA1S):c.4113+1G>A rs1558056376
NM_000069.3(CACNA1S):c.4798-2A>G rs1428157373
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1117T>C (p.Trp373Arg) rs775453643
NM_000070.3(CAPN3):c.1256A>G (p.Asp419Gly) rs886042895
NM_000070.3(CAPN3):c.1517T>C (p.Ile506Thr) rs1555422136
NM_000070.3(CAPN3):c.1524G>A (p.Glu508=) rs886043432
NM_000070.3(CAPN3):c.1745+4_1745+7del rs794727082
NM_000070.3(CAPN3):c.2148G>T (p.Glu716Asp) rs770894443
NM_000070.3(CAPN3):c.2255ACG[1] (p.Asp753del) rs886043333
NM_000070.3(CAPN3):c.2440-6_2440-3del rs1555423426
NM_000070.3(CAPN3):c.377T>C (p.Leu126Pro)
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) rs946415346
NM_000070.3(CAPN3):c.500T>C (p.Phe167Ser) rs886042296
NM_000070.3(CAPN3):c.985G>C (p.Gly329Arg) rs1085307995
NM_000071.3(CBS):c.1064C>T (p.Ala355Val) rs772384826
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser) rs121964968
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.262C>G (p.Pro88Ala)
NM_000071.3(CBS):c.284T>C (p.Ile95Thr) rs1347662650
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.3(CBS):c.359A>G (p.Asp120Gly) rs1982750491
NM_000071.3(CBS):c.457G>A (p.Gly153Arg) rs745704046
NM_000071.3(CBS):c.502G>A (p.Val168Met) rs121964970
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del) rs794727835
NM_000071.3(CBS):c.683A>G (p.Asn228Ser) rs1555874803
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000071.3(CBS):c.808_810del (p.Glu270del) rs760710691
NM_000071.3(CBS):c.862G>A (p.Ala288Thr) rs141502207
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn) rs1569377829
NM_000074.3(CD40LG):c.686T>C (p.Phe229Ser) rs1569377865
NM_000074.3(CD40LG):c.755G>A (p.Gly252Asp)
NM_000077.5(CDKN2A):c.199G>A (p.Gly67Ser) rs758389471
NM_000077.5(CDKN2A):c.203C>T (p.Ala68Val) rs1060501260
NM_000077.5(CDKN2A):c.322G>A (p.Asp108Asn) rs121913381
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000077.5(CDKN2A):c.457+1_457+10del rs1587330284
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys) rs1131691186
NM_000078.3(CETP):c.1103del (p.Pro368fs)
NM_000079.4(CHRNA1):c.737C>T (p.Ser246Phe) rs483353046
NM_000080.4(CHRNE):c.1220-2A>G rs1309292778
NM_000080.4(CHRNE):c.452_454del (p.Glu151del) rs2151098283
NM_000080.4(CHRNE):c.488C>T (p.Ser163Leu) rs121909516
NM_000080.4(CHRNE):c.501-10_504dup rs768552387
NM_000080.4(CHRNE):c.632C>T (p.Pro211Leu)
NM_000080.4(CHRNE):c.713G>A (p.Arg238Gln) rs2151097307
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.5719A>G (p.Ile1907Val)
NM_000081.4(LYST):c.7460+3_7460+6del
NM_000082.4(ERCC8):c.550G>A (p.Gly184Ser)
NM_000082.4(ERCC8):c.611C>A (p.Thr204Lys) rs1211144774
NM_000083.3(CLCN1):c.1097T>C (p.Val366Ala) rs1085307989
NM_000083.3(CLCN1):c.1445G>A (p.Gly482Glu) rs1380726444
NM_000083.3(CLCN1):c.1568G>T (p.Gly523Val) rs1460714146
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.2789del (p.Pro930fs) rs749552056
NM_000083.3(CLCN1):c.434-2_434dup rs753470655
NM_000083.3(CLCN1):c.494T>G (p.Val165Gly) rs1586485438
NM_000083.3(CLCN1):c.568G>A (p.Gly190Arg) rs369773321
NM_000083.3(CLCN1):c.691A>G (p.Lys231Glu) rs1586486170
NM_000083.3(CLCN1):c.980-3C>G rs1802714707
NM_000088.4(COL1A1):c.1002+5G>A
NM_000088.4(COL1A1):c.1056+2T>C
NM_000088.4(COL1A1):c.3823T>C (p.Trp1275Arg) rs1555571769
NM_000088.4(COL1A1):c.859-17_859-16delinsGTAGATCAGAAT rs1555574417
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
NM_000089.4(COL1A2):c.2187+5G>A
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000090.4(COL3A1):c.1754G>T (p.Gly585Val) rs2153502692
NM_000090.4(COL3A1):c.2791G>A (p.Glu931Lys) rs1553509193
NM_000090.4(COL3A1):c.3580G>C (p.Gly1194Arg)
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.528+5G>A rs794728038
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala) rs587779487
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg) rs1559878824
NM_000091.5(COL4A3):c.1307G>C (p.Gly436Ala)
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
NM_000091.5(COL4A3):c.1594G>A (p.Gly532Ser) rs779575469
NM_000091.5(COL4A3):c.1670G>A (p.Gly557Glu)
NM_000091.5(COL4A3):c.1679G>T (p.Gly560Val) rs2071193842
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg) rs917643323
NM_000091.5(COL4A3):c.2444G>A (p.Gly815Glu) rs2106154480
NM_000091.5(COL4A3):c.2498G>A (p.Gly833Asp) rs779489401
NM_000091.5(COL4A3):c.2507G>A (p.Gly836Glu) rs2072040353
NM_000091.5(COL4A3):c.2567G>T (p.Gly856Val)
NM_000091.5(COL4A3):c.2585G>C (p.Gly862Ala)
NM_000091.5(COL4A3):c.2593G>A (p.Gly865Ser) rs1559897190
NM_000091.5(COL4A3):c.2657-1G>A
NM_000091.5(COL4A3):c.2657-1G>T rs373324875
NM_000091.5(COL4A3):c.2990G>A (p.Gly997Glu) rs1553762113
NM_000091.5(COL4A3):c.3016G>A (p.Gly1006Arg)
NM_000091.5(COL4A3):c.3142G>C (p.Gly1048Arg) rs1559906448
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser) rs920061910
NM_000091.5(COL4A3):c.3716G>A (p.Gly1239Glu) rs2106247510
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser) rs2073401281
NM_000091.5(COL4A3):c.5010_*14del (p.His1670_Ter1671delinsXaa) rs765655100
NM_000091.5(COL4A3):c.997G>A (p.Gly333Arg) rs761819520
NM_000092.5(COL4A4):c.1293_1310del (p.Lys434_Gly439del) rs1362664502
NM_000092.5(COL4A4):c.1831G>A (p.Gly611Ser) rs758860164
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000092.5(COL4A4):c.2447G>A (p.Gly816Glu)
NM_000092.5(COL4A4):c.2456G>T (p.Gly819Val) rs1576189036
NM_000092.5(COL4A4):c.3120C>A (p.Phe1040Leu)
NM_000092.5(COL4A4):c.3488G>T (p.Gly1163Val) rs1559480099
NM_000092.5(COL4A4):c.3506-13_3528del rs2149993330
NM_000092.5(COL4A4):c.3577G>T (p.Gly1193Cys) rs1158350974
NM_000092.5(COL4A4):c.3875G>A (p.Gly1292Asp) rs971779449
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
NM_000092.5(COL4A4):c.4334-23A>G rs766501515
NM_000092.5(COL4A4):c.737G>A (p.Gly246Asp) rs1559631986
NM_000092.5(COL4A4):c.81_86del (p.27IL[1]) rs771943519
NM_000092.5(COL4A4):c.870G>A (p.Lys290=) rs2060620860
NM_000092.5(COL4A4):c.985G>A (p.Gly329Arg)
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys) rs1835194794
NM_000093.5(COL5A1):c.2332G>T (p.Gly778Cys) rs2132747882
NM_000093.5(COL5A1):c.2989G>A (p.Gly997Ser) rs863223445
NM_000093.5(COL5A1):c.3484G>A (p.Gly1162Arg) rs1838467288
NM_000093.5(COL5A1):c.5204G>A (p.Ser1735Asn) rs1588615451
NM_000094.4(COL7A1):c.151C>G (p.Arg51Gly)
NM_000094.4(COL7A1):c.4271G>A (p.Gly1424Glu)
NM_000094.4(COL7A1):c.4705G>A (p.Gly1569Arg)
NM_000094.4(COL7A1):c.6448G>A (p.Gly2150Ser)
NM_000094.4(COL7A1):c.682+5G>A rs767647070
NM_000094.4(COL7A1):c.7967G>T (p.Gly2656Val) rs557951372
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000095.3(COMP):c.604-2A>C rs1459554830
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser) rs1645443275
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000098.3(CPT2):c.371G>C (p.Arg124Pro) rs1131691925
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000098.3(CPT2):c.631C>T (p.Pro211Ser)
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
NM_000104.4(CYP1B1):c.92C>A (p.Ala31Asp)
NM_000108.5(DLD):c.1463del (p.Pro488fs) rs1554400720
NM_000110.4(DPYD):c.1764del (p.Arg589fs) rs1346124437
NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg) rs386833481
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu) rs2113699627
NM_000116.5(TAFAZZIN):c.284+5G>A
NM_000116.5(TAFAZZIN):c.328T>C (p.Ser110Pro) rs397515739
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.590G>A (p.Gly197Glu) rs397515746
NM_000116.5(TAFAZZIN):c.790A>G (p.Lys264Glu) rs1557194488
NM_000116.5(TAFAZZIN):c.823C>T (p.Gln275Ter) rs397515750
NM_000117.3(EMD):c.548C>T (p.Pro183Leu) rs104894805
NM_000122.2(ERCC3):c.1762dup (p.Glu588fs) rs770925947
NM_000123.4(ERCC5):c.2392G>T (p.Asp798Tyr) rs755253596
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000124.4(ERCC6):c.1432_1433insTC (p.Lys478fs) rs886047037
NM_000124.4(ERCC6):c.1762TGG[1] (p.Trp589del) rs760919459
NM_000124.4(ERCC6):c.1939G>A (p.Glu647Lys)
NM_000124.4(ERCC6):c.2870T>G (p.Val957Gly)
NM_000126.4(ETFA):c.242A>C (p.His81Pro)
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000127.3(EXT1):c.568_570del (p.His190del) rs1817877188
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
NM_000128.4(F11):c.1481-1G>T rs1057516506
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000129.4(F13A1):c.233G>T (p.Arg78Leu) rs768024997
NM_000130.5(F5):c.1498T>G (p.Cys500Gly) rs1571581722
NM_000132.4(F8):c.101A>T (p.Asp34Val)
NM_000132.4(F8):c.1468A>G (p.Arg490Gly) rs1603435026
NM_000132.4(F8):c.2103G>A (p.Met701Ile)
NM_000132.4(F8):c.5815G>C (p.Ala1939Pro) rs1603432979
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
NM_000132.4(F8):c.6929C>T (p.Thr2310Ile) rs373079141
NM_000132.4(F8):c.842C>T (p.Thr281Ile)
NM_000133.4(F9):c.1067G>T (p.Trp356Leu) rs1479241411
NM_000133.4(F9):c.845A>G (p.His282Arg) rs753654616
NM_000135.4(FANCA):c.1292dup (p.Leu432fs) rs1416639878
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu) rs1060501879
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His) rs1567635573
NM_000135.4(FANCA):c.1475A>G (p.His492Arg) rs925457555
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter) rs2039774778
NM_000135.4(FANCA):c.1776+7A>G rs1555552070
NM_000135.4(FANCA):c.189+2T>A rs2041094594
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs) rs1555547935
NM_000135.4(FANCA):c.2316+1_2316+3del rs2039275264
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg) rs2039079300
NM_000135.4(FANCA):c.2638C>G (p.Arg880Gly) rs762804216
NM_000135.4(FANCA):c.2778+83C>G rs750997715
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs) rs1405317971
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly) rs2038474528
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile) rs2143109078
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser) rs545772434
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del) rs1380850249
NM_000135.4(FANCA):c.3627-1G>A rs2062172440
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter) rs986710868
NM_000135.4(FANCA):c.3934+1G>A rs2062087795
NM_000135.4(FANCA):c.4010+2T>C rs2062067746
NM_000135.4(FANCA):c.4261-2A>G rs915983602
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn) rs748856769
NM_000135.4(FANCA):c.710-10G>A rs2040524006
NM_000135.4(FANCA):c.710-2A>G rs2040523467
NM_000135.4(FANCA):c.826+2T>C rs2143585058
NM_000135.4(FANCA):c.964C>T (p.His322Tyr) rs772768595
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg) rs1447363475
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.8_9del (p.Gln3fs) rs1831183107
NM_000137.4(FAH):c.107T>C (p.Ile36Thr) rs774648934
NM_000137.4(FAH):c.1097_1099del (p.Ser366del)
NM_000137.4(FAH):c.1213_1214delinsCA (p.Phe405His) rs1567123622
NM_000137.4(FAH):c.607-6T>G rs80338896
NM_000137.4(FAH):c.974C>T (p.Thr325Met) rs770713168
NM_000138.5(FBN1):c.1073G>A (p.Cys358Tyr) rs1555400606
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr) rs1597581001
NM_000138.5(FBN1):c.1390C>T (p.Arg464Cys) rs587782943
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.229G>A (p.Gly77Arg) rs794728290
NM_000138.5(FBN1):c.2624G>A (p.Cys875Tyr) rs886039038
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2639G>A (p.Gly880Asp) rs886038953
NM_000138.5(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.5(FBN1):c.2893G>A (p.Glu965Lys) rs748905831
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp) rs1555398670
NM_000138.5(FBN1):c.3152T>C (p.Phe1051Ser) rs1555398668
NM_000138.5(FBN1):c.32T>G (p.Leu11Arg) rs1555407429
NM_000138.5(FBN1):c.3428G>A (p.Gly1143Asp) rs1163486953
NM_000138.5(FBN1):c.3508C>T (p.Arg1170Cys) rs1366894709
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.3650G>A (p.Gly1217Asp) rs1555398397
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.4146T>A (p.Asn1382Lys) rs794728218
NM_000138.5(FBN1):c.4172G>T (p.Cys1391Phe) rs1352478541
NM_000138.5(FBN1):c.4407_4409dup (p.Cys1470dup) rs1555397404
NM_000138.5(FBN1):c.4447G>A (p.Gly1483Arg) rs794728223
NM_000138.5(FBN1):c.4460A>C (p.Asp1487Ala) rs1555397216
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4526A>G (p.Tyr1509Cys) rs730880102
NM_000138.5(FBN1):c.4787G>C (p.Arg1596Pro) rs769588424
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5369G>A (p.Arg1790Gln) rs1555396428
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe) rs193922218
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5788+5G>T rs193922219
NM_000138.5(FBN1):c.5917+5G>A rs1555395743
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6254G>A (p.Cys2085Tyr) rs1555395261
NM_000138.5(FBN1):c.6322C>T (p.Arg2108Cys) rs1246984265
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) rs910656654
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6616G>A (p.Asp2206Asn) rs1555394999
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly) rs1597522584
NM_000138.5(FBN1):c.6697C>T (p.Pro2233Ser) rs794728255
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.697C>T (p.Arg233Cys) rs397515841
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7383C>G (p.Asn2461Lys) rs754047254
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe) rs1555394398
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7699+5G>A rs1555394187
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.5(FBN1):c.7819+3A>C rs1555394135
NM_000138.5(FBN1):c.7867C>G (p.His2623Asp)
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.8002G>T (p.Gly2668Cys) rs1057521100
NM_000138.5(FBN1):c.8377T>C (p.Tyr2793His) rs113722038
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.911G>A (p.Cys304Tyr) rs1555401011
NM_000141.5(FGFR2):c.1066T>G (p.Trp356Gly)
NM_000141.5(FGFR2):c.1274G>A (p.Arg425Gln)
NM_000142.5(FGFR3):c.1663G>C (p.Val555Leu) rs1474187970
NM_000142.5(FGFR3):c.598C>T (p.Arg200Cys) rs886043613
NM_000142.5(FGFR3):c.983A>T (p.Asn328Ile) rs587778817
NM_000143.4(FH):c.1154C>A (p.Ala385Asp) rs727503926
NM_000143.4(FH):c.1170C>A (p.Asn390Lys) rs1659806898
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.157G>A (p.Glu53Lys) rs863224013
NM_000143.4(FH):c.1A>C (p.Met1Leu) rs776806414
NM_000143.4(FH):c.40dup (p.Leu14fs) rs1060500900
NM_000143.4(FH):c.452T>A (p.Met151Lys) rs1660099266
NM_000143.4(FH):c.706A>G (p.Thr236Ala) rs1064793126
NM_000143.4(FH):c.774_794dup (p.Thr260_Met266dup) rs863223984
NM_000143.4(FH):c.839G>A (p.Gly280Asp) rs863223969
NM_000143.4(FH):c.892G>C (p.Ala298Pro) rs201395553
NM_000143.4(FH):c.934T>C (p.Phe312Leu) rs863224000
NM_000143.4(FH):c.937G>A (p.Glu313Lys) rs863224001
NM_000143.4(FH):c.965T>G (p.Val322Gly) rs863224003
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000143.4(FH):c.998G>A (p.Cys333Tyr) rs1553341032
NM_000144.5(FXN):c.493C>T (p.Arg165Cys) rs138034837
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val) rs753232669
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala) rs104894571
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg) rs2056021410
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro) rs1555560128
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg) rs2056092151
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu) rs776008078
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn) rs1555600179
NM_000152.5(GAA):c.1280T>C (p.Met427Thr) rs1555600212
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del) rs1555600235
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu) rs763772240
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1903A>G (p.Asn635Asp) rs2143891559
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2189+3G>C rs2143897458
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu) rs752921215
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg) rs1555602703
NM_000152.5(GAA):c.2799+2C>A rs1555603318
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del) rs1555598888
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.569G>T (p.Arg190Leu) rs528367092
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.732G>C (p.Gln244His) rs1178922366
NM_000152.5(GAA):c.794G>A (p.Ser265Asn) rs772002851
NM_000152.5(GAA):c.953T>A (p.Met318Lys) rs121907936
NM_000153.4(GALC):c.1282A>G (p.Thr428Ala)
NM_000153.4(GALC):c.1367T>C (p.Leu456Pro)
NM_000153.4(GALC):c.136G>C (p.Asp46His) rs751975987
NM_000153.4(GALC):c.1400C>T (p.Thr467Ile) rs750431739
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn) rs202135871
NM_000153.4(GALC):c.1543G>A (p.Glu515Lys) rs794727116
NM_000153.4(GALC):c.1754G>A (p.Gly585Asp) rs776098499
NM_000153.4(GALC):c.1942A>T (p.Lys648Ter) rs1884501856
NM_000153.4(GALC):c.203C>T (p.Ser68Phe) rs1555383892
NM_000153.4(GALC):c.411_413del (p.Lys139del) rs1555383687
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) rs1555383498
NM_000153.4(GALC):c.680A>G (p.Asp227Gly) rs1886495923
NM_000153.4(GALC):c.830G>A (p.Ser277Asn) rs1886145312
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761
NM_000154.2(GALK1):c.130C>T (p.His44Tyr) rs1555748926
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn) rs775317639
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs)
NM_000155.4(GALT):c.155C>G (p.Pro52Arg) rs2132341621
NM_000155.4(GALT):c.203A>C (p.His68Pro) rs193922247
NM_000155.4(GALT):c.221T>C (p.Leu74Pro) rs111033663
NM_000155.4(GALT):c.299C>G (p.Pro100Arg) rs1057524572
NM_000155.4(GALT):c.329G>A (p.Gly110Glu) rs1057523885
NM_000155.4(GALT):c.385A>T (p.Met129Leu) rs193922248
NM_000155.4(GALT):c.394C>T (p.His132Tyr) rs111033688
NM_000155.4(GALT):c.405G>A (p.Ser135=) rs141232328
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.547C>A (p.Pro183Thr) rs111033721
NM_000155.4(GALT):c.552C>A (p.His184Gln) rs111033717
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser) rs886043390
NM_000155.4(GALT):c.776G>A (p.Arg259Gln) rs886042070
NM_000155.4(GALT):c.812A>G (p.Glu271Gly) rs111033765
NM_000155.4(GALT):c.893T>C (p.Met298Thr) rs886042064
NM_000156.6(GAMT):c.1A>G (p.Met1Val) rs796052527
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.609dup (p.Arg204fs) rs745740974
NM_000157.4(GBA1):c.1227C>A (p.Asn409Lys) rs749227753
NM_000157.4(GBA1):c.521A>G (p.Tyr174Cys) rs781152868
NM_000157.4(GBA1):c.680_681delinsGG (p.Asn227Arg) rs786200979
NM_000157.4(GBA1):c.706C>T (p.Leu236Phe) rs1671865905
NM_000158.4(GBE1):c.1336-1G>A rs375253942
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr) rs1456579860
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer) rs1367364158
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu) rs754525424
NM_000158.4(GBE1):c.992+2T>G rs772349876
NM_000159.4(GCDH):c.1115G>A (p.Arg372Lys) rs1555751240
NM_000159.4(GCDH):c.1169G>T (p.Gly390Val) rs778153326
NM_000159.4(GCDH):c.1205G>C (p.Arg402Pro)
NM_000159.4(GCDH):c.1220T>C (p.Leu407Pro) rs1555751379
NM_000159.4(GCDH):c.203G>C (p.Arg68Thr) rs1417389111
NM_000159.4(GCDH):c.281G>A (p.Arg94Gln) rs566417795
NM_000159.4(GCDH):c.397G>A (p.Val133Met) rs746388510
NM_000159.4(GCDH):c.416C>G (p.Ser139Trp) rs139851890
NM_000159.4(GCDH):c.437C>A (p.Ser146Tyr) rs1555749927
NM_000159.4(GCDH):c.528C>G (p.Cys176Trp) rs756345321
NM_000159.4(GCDH):c.566G>C (p.Ser189Thr) rs764774411
NM_000159.4(GCDH):c.680G>A (p.Arg227Gln) rs121434373
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp) rs964724051
NM_000159.4(GCDH):c.782C>T (p.Thr261Ile) rs777494547
NM_000159.4(GCDH):c.797T>C (p.Met266Thr) rs771650894
NM_000159.4(GCDH):c.91+5G>A rs952356983
NM_000159.4(GCDH):c.997C>G (p.Gln333Glu) rs794726972
NM_000161.3(GCH1):c.305T>C (p.Met102Thr) rs2140127042
NM_000161.3(GCH1):c.400G>A (p.Asp134Asn) rs1353623780
NM_000161.3(GCH1):c.644T>C (p.Met215Thr) rs2140038918
NM_000161.3(GCH1):c.689T>C (p.Met230Thr) rs2140038798
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly) rs193922255
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) rs1064793134
NM_000162.5(GCK):c.1113C>G (p.Cys371Trp) rs556581174
NM_000162.5(GCK):c.1124C>A (p.Ser375Tyr)
NM_000162.5(GCK):c.1130G>A (p.Arg377His) rs193922264
NM_000162.5(GCK):c.1151C>T (p.Ala384Val) rs1583591747
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro) rs193922268
NM_000162.5(GCK):c.115_117del (p.Lys39del) rs2096283216
NM_000162.5(GCK):c.1160C>T (p.Ala387Val) rs193921338
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp) rs2096271482
NM_000162.5(GCK):c.1174C>G (p.Arg392Gly) rs1167124132
NM_000162.5(GCK):c.1229G>A (p.Gly410Asp) rs1554334546
NM_000162.5(GCK):c.122T>C (p.Met41Thr) rs1057524906
NM_000162.5(GCK):c.1247A>C (p.His416Pro) rs1583591303
NM_000162.5(GCK):c.1255T>C (p.Phe419Leu) rs1554334478
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro) rs1131691416
NM_000162.5(GCK):c.134T>C (p.Leu45Pro) rs1131691598
NM_000162.5(GCK):c.158C>T (p.Ala53Val) rs2128823130
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
NM_000162.5(GCK):c.175C>G (p.Pro59Ala) rs193922287
NM_000162.5(GCK):c.215G>A (p.Gly72Glu) rs2128822720
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.364C>G (p.Leu122Val) rs1554335616
NM_000162.5(GCK):c.367T>C (p.Phe123Leu)
NM_000162.5(GCK):c.370G>C (p.Asp124His) rs759072800
NM_000162.5(GCK):c.389T>C (p.Ile130Thr)
NM_000162.5(GCK):c.449T>A (p.Phe150Tyr) rs193922297
NM_000162.5(GCK):c.451T>C (p.Ser151Pro)
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.477C>G (p.Ile159Met) rs1554335567
NM_000162.5(GCK):c.478G>A (p.Asp160Asn) rs1554335566
NM_000162.5(GCK):c.484G>A (p.Gly162Ser)
NM_000162.5(GCK):c.531A>C (p.Glu177Asp)
NM_000162.5(GCK):c.540T>G (p.Asn180Lys) rs1554335444
NM_000162.5(GCK):c.566T>C (p.Ile189Thr) rs1554335441
NM_000162.5(GCK):c.572G>A (p.Arg191Gln) rs886042610
NM_000162.5(GCK):c.593A>C (p.Asp198Ala)
NM_000162.5(GCK):c.595G>A (p.Val199Met) rs1554335417
NM_000162.5(GCK):c.601G>T (p.Ala201Ser) rs794727775
NM_000162.5(GCK):c.610A>G (p.Asn204Asp) rs2128821512
NM_000162.5(GCK):c.623C>T (p.Ala208Val) rs746913146
NM_000162.5(GCK):c.674T>C (p.Ile225Thr) rs2128821473
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.730G>A (p.Val244Met) rs1240035630
NM_000162.5(GCK):c.736G>A (p.Gly246Arg) rs2096275721
NM_000162.5(GCK):c.737G>A (p.Gly246Glu) rs1583596522
NM_000162.5(GCK):c.737G>C (p.Gly246Ala) rs1583596522
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.758T>C (p.Val253Ala) rs193921400
NM_000162.5(GCK):c.772G>A (p.Gly258Ser) rs1583596378
NM_000162.5(GCK):c.871A>G (p.Lys291Glu) rs193922335
NM_000162.5(GCK):c.878T>C (p.Ile293Thr) rs2128820046
NM_000165.5(GJA1):c.284A>G (p.His95Arg)
NM_000166.6(GJB1):c.109G>T (p.Val37Leu) rs1057518946
NM_000166.6(GJB1):c.113T>G (p.Val38Gly) rs863224612
NM_000166.6(GJB1):c.136G>A (p.Asp46Asn)
NM_000166.6(GJB1):c.148T>C (p.Ser50Pro) rs913934445
NM_000166.6(GJB1):c.173C>G (p.Pro58Arg) rs1602348876
NM_000166.6(GJB1):c.175G>C (p.Gly59Arg) rs1555937077
NM_000166.6(GJB1):c.215C>T (p.Ser72Phe) rs2092543301
NM_000166.6(GJB1):c.372G>C (p.Lys124Asn) rs876661119
NM_000166.6(GJB1):c.376C>T (p.His126Tyr) rs879253995
NM_000166.6(GJB1):c.392T>G (p.Leu131Arg) rs1555937166
NM_000166.6(GJB1):c.502T>G (p.Cys168Gly) rs1057518780
NM_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_000166.6(GJB1):c.526_555dup (p.Thr176_Thr185dup) rs1555937221
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu) rs1555937244
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000166.6(GJB1):c.610C>A (p.Leu204Ile) rs1064795540
NM_000166.6(GJB1):c.622del (p.Glu208fs) rs2147946914
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln) rs1060501002
NM_000166.6(GJB1):c.73C>T (p.Leu25Phe) rs1602348662
NM_000166.6(GJB1):c.83T>C (p.Ile28Thr) rs768834663
NM_000168.6(GLI3):c.1880A>G (p.His627Arg)
NM_000169.3(GLA):c.1085C>T (p.Pro362Leu) rs730880441
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys) rs1928127475
NM_000169.3(GLA):c.1124G>C (p.Gly375Ala) rs869312164
NM_000169.3(GLA):c.1277_1278del (p.Lys426fs) rs869312249
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.254G>T (p.Gly85Val) rs1569304898
NM_000169.3(GLA):c.265C>T (p.Leu89Phe) rs1555986305
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp) rs727503951
NM_000169.3(GLA):c.500T>C (p.Leu167Pro) rs1928319806
NM_000169.3(GLA):c.56T>C (p.Leu19Pro) rs1928592578
NM_000169.3(GLA):c.607G>A (p.Glu203Lys) rs869312345
NM_000169.3(GLA):c.639+4A>T rs398123215
NM_000169.3(GLA):c.641C>T (p.Pro214Leu) rs869312150
NM_000169.3(GLA):c.692A>C (p.Asp231Ala) rs1569303295
NM_000169.3(GLA):c.717A>G (p.Ile239Met) rs1928192530
NM_000169.3(GLA):c.758T>C (p.Ile253Thr) rs727505292
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg) rs386833527
NM_000170.3(GLDC):c.1654A>G (p.Met552Val) rs386833529
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn) rs1554646634
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly) rs386833533
NM_000170.3(GLDC):c.1926+5G>A rs1554644678
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del) rs769625871
NM_000170.3(GLDC):c.2259C>G (p.His753Gln) rs2129719894
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val) rs750384225
NM_000170.3(GLDC):c.245T>C (p.Leu82Ser) rs386833559
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys) rs386833561
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro) rs386833562
NM_000170.3(GLDC):c.2578G>C (p.Gly860Arg) rs753759723
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del) rs1554642294
NM_000170.3(GLDC):c.2798T>C (p.Ile933Thr) rs758029533
NM_000170.3(GLDC):c.2901G>C (p.Glu967Asp) rs1587908683
NM_000170.3(GLDC):c.2962C>T (p.Arg988Trp) rs1288008254
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn) rs1554641505
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg) rs386833582
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro) rs772832052
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys) rs1597638398
NM_000174.5(GP9):c.289C>T (p.Arg97Cys)
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer) rs267608077
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.3(MSH6):c.1615C>T (p.Leu539Phe) rs1553412999
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del) rs1064793600
NM_000179.3(MSH6):c.2276T>C (p.Leu759Pro) rs1553413655
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.3(MSH6):c.2341C>A (p.Pro781Thr) rs587779235
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000179.3(MSH6):c.2591G>A (p.Gly864Glu) rs587781306
NM_000179.3(MSH6):c.260+3A>G rs1553408474
NM_000179.3(MSH6):c.260G>C (p.Ser87Thr) rs1114167734
NM_000179.3(MSH6):c.2873A>G (p.Gln958Arg) rs876660185
NM_000179.3(MSH6):c.2927G>A (p.Arg976His) rs63751113
NM_000179.3(MSH6):c.3023C>T (p.Thr1008Ile) rs1558667779
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del) rs267608073
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro) rs587779254
NM_000179.3(MSH6):c.3400G>C (p.Gly1134Arg) rs1114167697
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser) rs63751063
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp) rs1316409501
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser) rs587779264
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe) rs376799914
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del) rs63751427
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp) rs587779935
NM_000179.3(MSH6):c.3602T>G (p.Leu1201Arg)
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3927_3938dup (p.Glu1310_Ile1313dup) rs1670125444
NM_000179.3(MSH6):c.3947G>A (p.Gly1316Glu) rs876661174
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs) rs1553333753
NM_000179.3(MSH6):c.3del (p.Met1fs) rs1553408068
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG rs878853744
NM_000179.3(MSH6):c.4008_4009dup (p.Cys1337fs) rs1553333981
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.740A>G (p.His247Arg) rs768206746
NM_000180.4(GUCY2D):c.856_876dup (p.Ser286_Leu292dup) rs2151799690
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr) rs1302470051
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg) rs794726973
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)
NM_000182.5(HADHA):c.1493A>G (p.His498Arg) rs752005568
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000183.3(HADHB):c.686G>A (p.Arg229Gln) rs375654005
NM_000186.4(CFH):c.1690T>C (p.Cys564Arg)
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe) rs2149118712
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter) rs121913051
NM_000186.4(CFH):c.58G>A (p.Asp20Asn) rs1553270437
NM_000187.4(HGD):c.368G>A (p.Gly123Glu) rs374473331
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) rs536814318
NM_000190.4(HMBS):c.655G>A (p.Ala219Thr) rs767103817
NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys) rs1287973337
NM_000193.4(SHH):c.1222GGC[5] (p.Gly411dup) rs769920627
NM_000193.4(SHH):c.424G>A (p.Glu142Lys)
NM_000195.5(HPS1):c.1632C>A (p.Phe544Leu) rs748106098
NM_000196.4(HSD11B2):c.266G>A (p.Gly89Asp) rs1555518481
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn) rs1064794815
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys) rs1567914835
NM_000199.5(SGSH):c.1380del (p.Leu461fs) rs1555620092
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr) rs1385318543
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu) rs34520362
NM_000199.5(SGSH):c.726C>T (p.Thr242=) rs1347877363
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu) rs104894635
NM_000199.5(SGSH):c.822C>G (p.Asn274Lys)
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg) rs765361603
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg) rs1385473515
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala) rs758756630
NM_000202.8(IDS):c.1030G>A (p.Glu344Lys)
NM_000202.8(IDS):c.121_123del (p.Leu41del) rs2124066296
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu) rs2123994251
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
NM_000202.8(IDS):c.1494del (p.Arg498fs)
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
NM_000202.8(IDS):c.248T>G (p.Val83Gly) rs1569560525
NM_000202.8(IDS):c.260G>A (p.Ser87Asn)
NM_000202.8(IDS):c.400G>A (p.Gly134Arg)
NM_000202.8(IDS):c.412C>T (p.His138Tyr)
NM_000202.8(IDS):c.469C>T (p.Pro157Ser) rs864622774
NM_000202.8(IDS):c.525T>A (p.Asp175Glu) rs2089452549
NM_000202.8(IDS):c.748G>A (p.Ala250Thr)
NM_000202.8(IDS):c.866C>T (p.Pro289Leu)
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe) rs1577543849
NM_000203.5(IDUA):c.1727+5G>A
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs) rs1715314710
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs)
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
NM_000204.5(CFI):c.485G>A (p.Gly162Asp)
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr) rs1064794027
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000206.3(IL2RG):c.924G>A (p.Ser308=) rs2092255386
NM_000207.3(INS):c.125T>C (p.Val42Ala) rs886037863
NM_000207.3(INS):c.299G>A (p.Cys100Tyr)
NM_000208.4(INSR):c.3470A>G (p.His1157Arg) rs957304581
NM_000208.4(INSR):c.356C>T (p.Ala119Val)
NM_000209.4(PDX1):c.217dup (p.Leu73fs) rs1445970498
NM_000212.3(ITGB3):c.1031A>C (p.Tyr344Ser) rs2065118116
NM_000212.3(ITGB3):c.1366A>C (p.Thr456Pro) rs1598694640
NM_000212.3(ITGB3):c.1813G>A (p.Gly605Ser)
NM_000212.3(ITGB3):c.362-1G>A rs1567764299
NM_000213.5(ITGB4):c.2550+1G>A rs545619665
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000214.3(JAG1):c.3048+1G>T rs876661121
NM_000214.3(JAG1):c.463G>C (p.Ala155Pro)
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.64T>C (p.Cys22Arg) rs1555831004
NM_000214.3(JAG1):c.713G>A (p.Cys238Tyr) rs2122620330
NM_000214.3(JAG1):c.820G>A (p.Gly274Ser) rs2122615095
NM_000215.4(JAK3):c.1207C>T (p.Arg403Cys)
NM_000215.4(JAK3):c.1915-1G>A
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000216.4(ANOS1):c.1063-1G>C rs2146805381
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.3(KCNQ1):c.1045T>C (p.Ser349Pro) rs199472764
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val) rs794728524
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
NM_000218.3(KCNQ1):c.1685G>T (p.Arg562Met) rs199472802
NM_000218.3(KCNQ1):c.1831G>T (p.Asp611Tyr) rs147445322
NM_000218.3(KCNQ1):c.526T>C (p.Trp176Arg) rs1554892900
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.556G>A (p.Gly186Ser) rs199473398
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.3(KCNQ1):c.677C>T (p.Ala226Val) rs199472707
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) rs1064796353
NM_000218.3(KCNQ1):c.887T>C (p.Phe296Ser) rs199472738
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
NM_000228.3(LAMB3):c.947G>A (p.Cys316Tyr) rs1553277738
NM_000231.3(SGCG):c.-1+5G>A
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.786C>G (p.Tyr262Ter)
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.278G>C (p.Gly93Ala) rs1018529334
NM_000232.5(SGCB):c.346A>G (p.Met116Val) rs752168132
NM_000233.4(LHCGR):c.1733A>C (p.Asp578Ala) rs121912518
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg) rs1554866097
NM_000235.4(LIPA):c.309C>A (p.Ser103Arg) rs766364179
NM_000237.3(LPL):c.1187A>T (p.Glu396Val) rs886037775
NM_000237.3(LPL):c.804C>A (p.His268Gln)
NM_000237.3(LPL):c.862G>A (p.Ala288Thr)
NM_000237.3(LPL):c.995C>T (p.Thr332Ile) rs2128838568
NM_000238.4(KCNH2):c.1262C>T (p.Thr421Met) rs199472894
NM_000238.4(KCNH2):c.1418C>A (p.Thr473Asn) rs199472905
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1520C>T (p.Pro507Leu) rs794728372
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1849T>C (p.Phe617Leu) rs796052195
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.202T>C (p.Phe68Leu) rs199473417
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.4(KCNH2):c.2312A>G (p.His771Arg) rs1060500659
NM_000238.4(KCNH2):c.2362G>A (p.Glu788Lys) rs199472997
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu) rs199473000
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys) rs199472854
NM_000238.4(KCNH2):c.3125T>C (p.Leu1042Pro) rs886039064
NM_000238.4(KCNH2):c.3255del (p.Pro1086fs) rs1064795855
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) rs764831888
NM_000238.4(KCNH2):c.916+1G>A
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.3(MEFV):c.2044_2045del (p.Leu682fs) rs1355225244
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs) rs104895138
NM_000249.4(MLH1):c.1039-3C>G rs730881737
NM_000249.4(MLH1):c.104T>A (p.Met35Lys) rs63749906
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly) rs876658410
NM_000249.4(MLH1):c.1178T>C (p.Leu393Pro) rs786203413
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1621G>C (p.Ala541Pro) rs1064793578
NM_000249.4(MLH1):c.1652A>C (p.Asn551Thr) rs63750271
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn) rs63751596
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val) rs1559578814
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser) rs587781796
NM_000249.4(MLH1):c.1731+1G>C rs267607853
NM_000249.4(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del) rs63750486
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser) rs587778952
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly) rs1064795693
NM_000249.4(MLH1):c.1897-2A>G rs267607871
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr) rs63749792
NM_000249.4(MLH1):c.1918C>G (p.Pro640Ala) rs63749792
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.200G>T (p.Gly67Val) rs63749939
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val) rs63750864
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe) rs1064796101
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly) rs587778985
NM_000249.4(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.4(MLH1):c.245C>G (p.Thr82Ser) rs63750005
NM_000249.4(MLH1):c.27G>A (p.Arg9=) rs759680369
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser) rs267607725
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg) rs267607725
NM_000249.4(MLH1):c.293G>A (p.Gly98Asp) rs863225382
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.4(MLH1):c.326A>C (p.His109Pro) rs587779004
NM_000249.4(MLH1):c.344T>A (p.Ile115Asn) rs764120517
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg) rs267607747
NM_000249.4(MLH1):c.61G>T (p.Ala21Ser) rs2080897397
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp) rs63750555
NM_000249.4(MLH1):c.779T>A (p.Leu260His) rs63751283
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro) rs63751448
NM_000249.4(MLH1):c.83C>A (p.Pro28Gln)
NM_000249.4(MLH1):c.884+3A>G rs267607803
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly) rs63750993
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000251.2(MSH2):c.-82G>C rs866991159
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val) rs587779065
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu) rs587782374
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del) rs587779082
NM_000251.3(MSH2):c.1661+5G>T rs267607972
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.1807G>C (p.Asp603His) rs63750657
NM_000251.3(MSH2):c.1862G>C (p.Arg621Pro) rs759263820
NM_000251.3(MSH2):c.1864C>G (p.Pro622Ala) rs63750280
NM_000251.3(MSH2):c.1871T>G (p.Ile624Ser) rs1114167870
NM_000251.3(MSH2):c.1890A>T (p.Gly630=)
NM_000251.3(MSH2):c.1937A>G (p.Asp646Gly) rs41295290
NM_000251.3(MSH2):c.19G>T (p.Glu7Ter) rs375561490
NM_000251.3(MSH2):c.2005+2dup rs541623924
NM_000251.3(MSH2):c.2005+3_2005+14del rs587779125
NM_000251.3(MSH2):c.2011A>G (p.Asn671Asp) rs63751232
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys) rs587779127
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp) rs63750232
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.3(MSH2):c.2081T>C (p.Phe694Ser) rs1114167857
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu) rs587779137
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe) rs63750794
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu) rs63751155
NM_000251.3(MSH2):c.2275G>A (p.Gly759Arg) rs63749854
NM_000251.3(MSH2):c.2634+5G>A rs267608017
NM_000251.3(MSH2):c.2635-3C>G rs587779153
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys) rs587779166
NM_000251.3(MSH2):c.646-1G>T rs1114167888
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.3(MSH2):c.797C>T (p.Ala266Val) rs587781745
NM_000251.3(MSH2):c.942+3A>C rs193922376
NM_000251.3(MSH2):c.942+3A>G rs193922376
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1291G>A (p.Asp431Asn) rs886044782
NM_000252.3(MTM1):c.1537_1564delinsAACTGGA (p.Phe513_Leu522delinsAsnTrpIle) rs398123271
NM_000253.4(MTTP):c.-149C>A rs886058955
NM_000255.4(MMUT):c.1296A>C (p.Glu432Asp)
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000255.4(MMUT):c.917C>A (p.Ser306Tyr) rs1085307929
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1457+5G>T
NM_000256.3(MYBPC3):c.1505G>T (p.Arg502Leu) rs397515907
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1654G>T (p.Ala552Ser) rs727504887
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1927+1G>A rs2142859053
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.1978G>A (p.Val660Met) rs730880560
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2450G>C (p.Arg817Pro) rs397515964
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val) rs397515993
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro) rs730880582
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3627G>A (p.Lys1209=) rs1555120261
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val) rs727504259
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.3G>C (p.Met1Ile) rs397516045
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000256.3(MYBPC3):c.654+2T>C rs2142867623
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His) rs730880624
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro) rs727503272
NM_000257.4(MYH7):c.1142C>A (p.Ala381Asp) rs1265368591
NM_000257.4(MYH7):c.1148A>G (p.Lys383Arg) rs397516092
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu) rs727503268
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn) rs397516093
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala) rs1244840759
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu) rs397516101
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.4(MYH7):c.1640C>A (p.Thr547Asn) rs876657878
NM_000257.4(MYH7):c.1664A>G (p.Asn555Ser) rs876661215
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala) rs397516121
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.1979C>A (p.Thr660Asn) rs1595084560
NM_000257.4(MYH7):c.2012G>A (p.Arg671His) rs730880883
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) rs606231332
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro) rs730880731
NM_000257.4(MYH7):c.2099A>G (p.Glu700Gly) rs1892684240
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2129C>T (p.Pro710Leu) rs727504272
NM_000257.4(MYH7):c.2145C>A (p.Tyr715Ter)
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys) rs1060501432
NM_000257.4(MYH7):c.2162+1G>A rs752554104
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu) rs727504241
NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr) rs730880894
NM_000257.4(MYH7):c.2284A>G (p.Lys762Glu)
NM_000257.4(MYH7):c.2287G>A (p.Val763Met) rs727504253
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys) rs727503258
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp) rs1064793206
NM_000257.4(MYH7):c.2467G>C (p.Gly823Arg) rs1566531657
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln) rs730880743
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2527G>A (p.Ala843Thr) rs727505132
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly) rs2754158
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu) rs36211715
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu) rs727503254
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2692C>G (p.Leu898Val) rs727504407
NM_000257.4(MYH7):c.2699A>T (p.Asp900Val)
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser) rs730880757
NM_000257.4(MYH7):c.2779G>T (p.Glu927Ter)
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys) rs750435648
NM_000257.4(MYH7):c.2863G>A (p.Asp955Asn) rs886039204
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.3160A>G (p.Lys1054Glu) rs730880768
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3634C>T (p.Arg1212Trp) rs1555337102
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.379C>A (p.Pro127Thr) rs2138684765
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys) rs730880791
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.415G>T (p.Val139Leu) rs2138684666
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.4470G>C (p.Glu1490Asp) rs730880911
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln) rs730880810
NM_000257.4(MYH7):c.485A>G (p.Tyr162Cys) rs1057517771
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys) rs397516237
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5726G>C (p.Arg1909Pro) rs397516253
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.646C>G (p.Leu216Val) rs772488436
NM_000257.4(MYH7):c.652G>T (p.Asp218Tyr) rs1595089520
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
NM_000257.4(MYH7):c.677C>T (p.Ala226Val) rs876657887
NM_000257.4(MYH7):c.686C>T (p.Ala229Val) rs876657888
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser) rs886038844
NM_000257.4(MYH7):c.707T>C (p.Val236Ala) rs397516262
NM_000257.4(MYH7):c.725C>G (p.Ser242Cys) rs730880921
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr) rs727504280
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter) rs730880852
NM_000257.4(MYH7):c.755T>C (p.Phe252Ser) rs727505202
NM_000257.4(MYH7):c.773T>C (p.Leu258Ser) rs876661377
NM_000257.4(MYH7):c.815G>C (p.Arg272Thr) rs1555338578
NM_000257.4(MYH7):c.848A>G (p.Tyr283Cys) rs727503274
NM_000257.4(MYH7):c.968T>A (p.Ile323Asn) rs397516275
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423
NM_000258.3(MYL3):c.447G>A (p.Met149Ile) rs730880162
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000260.4(MYO7A):c.132+5G>A rs397516284
NM_000260.4(MYO7A):c.1496T>C (p.Ile499Thr) rs397516286
NM_000260.4(MYO7A):c.1903T>C (p.Cys635Arg) rs797044514
NM_000260.4(MYO7A):c.1979G>T (p.Gly660Val) rs1555078946
NM_000260.4(MYO7A):c.2905-1G>C rs1171417339
NM_000260.4(MYO7A):c.3509A>G (p.Glu1170Gly) rs1555090196
NM_000260.4(MYO7A):c.3602G>A (p.Cys1201Tyr) rs117966637
NM_000260.4(MYO7A):c.3652G>A (p.Gly1218Arg) rs111033195
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000260.4(MYO7A):c.5494C>T (p.Arg1832Trp) rs748080151
NM_000260.4(MYO7A):c.5824G>A (p.Gly1942Arg) rs111033192
NM_000260.4(MYO7A):c.5856+1G>A
NM_000260.4(MYO7A):c.587T>C (p.Leu196Pro) rs397516324
NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) rs397516325
NM_000260.4(MYO7A):c.6041A>G (p.His2014Arg) rs2135762079
NM_000260.4(MYO7A):c.6062A>G (p.Lys2021Arg) rs876657655
NM_000260.4(MYO7A):c.977T>A (p.Leu326Gln) rs797044491
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys) rs777670507
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys) rs1364203992
NM_000263.4(NAGLU):c.235G>A (p.Gly79Ser)
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg) rs770684838
NM_000263.4(NAGLU):c.680A>C (p.His227Pro) rs747155746
NM_000264.5(PTCH1):c.114dup (p.Leu39fs) rs751977093
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del) rs1588578556
NM_000264.5(PTCH1):c.3397A>G (p.Thr1133Ala) rs1131690996
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile) rs1554700630
NM_000268.4(NF2):c.1550T>C (p.Leu517Pro) rs1556002568
NM_000268.4(NF2):c.641T>C (p.Leu214Pro) rs1601618585
NM_000268.4(NF2):c.676-7T>G
NM_000271.5(NPC1):c.1156A>G (p.Ser386Gly) rs1192824648
NM_000271.5(NPC1):c.1210C>T (p.Arg404Trp) rs1298238512
NM_000271.5(NPC1):c.1327-2dup rs1555636712
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2451_2454del (p.Leu817fs) rs1555633637
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3281T>C (p.Ile1094Thr) rs1338658857
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys) rs1555632003
NM_000271.5(NPC1):c.3754+3A>C rs1208252513
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000271.5(NPC1):c.574T>C (p.Tyr192His)
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del) rs1243863645
NM_000273.3(GPR143):c.248T>C (p.Leu83Pro)
NM_000273.3(GPR143):c.352G>A (p.Gly118Arg) rs2146700794
NM_000274.4(OAT):c.1118G>A (p.Gly373Glu) rs386833595
NM_000274.4(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000274.4(OAT):c.583G>T (p.Asp195Tyr) rs386833614
NM_000275.3(OCA2):c.1453G>A (p.Gly485Arg) rs747214535
NM_000275.3(OCA2):c.1514T>C (p.Phe505Ser)
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg) rs779850564
NM_000275.3(OCA2):c.1922C>T (p.Ser641Leu) rs868238523
NM_000275.3(OCA2):c.1954T>A (p.Trp652Arg) rs886043514
NM_000275.3(OCA2):c.2079+5G>T rs745930102
NM_000275.3(OCA2):c.2159G>A (p.Arg720His)
NM_000275.3(OCA2):c.2245-6C>G rs368772032
NM_000275.3(OCA2):c.2279A>T (p.Glu760Val)
NM_000275.3(OCA2):c.2383G>A (p.Gly795Arg)
NM_000275.3(OCA2):c.646+1G>A
NM_000277.2(PAH):c.206_211dup (p.Ser70_Arg71insProSer) rs281865431
NM_000277.3(PAH):c.1004A>C (p.Lys335Thr) rs281865434
NM_000277.3(PAH):c.1033G>A (p.Ala345Thr) rs62516062
NM_000277.3(PAH):c.1066-13T>G rs1435691439
NM_000277.3(PAH):c.1074A>T (p.Leu358Phe) rs376480977
NM_000277.3(PAH):c.1171A>G (p.Ser391Gly) rs281865453
NM_000277.3(PAH):c.1240T>C (p.Tyr414His) rs281865437
NM_000277.3(PAH):c.1247C>A (p.Pro416Gln) rs1445893088
NM_000277.3(PAH):c.124_126del (p.Lys42del) rs1555209578
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del) rs199475628
NM_000277.3(PAH):c.1262T>G (p.Ile421Ser) rs199475696
NM_000277.3(PAH):c.1285C>A (p.Gln429Lys) rs764974157
NM_000277.3(PAH):c.224A>G (p.Asp75Gly) rs1565866547
NM_000277.3(PAH):c.284_285delinsCA (p.Ile95Thr) rs281865432
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.301G>A (p.Asp101Asn) rs1555207979
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.441+6T>A rs199475698
NM_000277.3(PAH):c.443G>T (p.Gly148Val) rs1555205655
NM_000277.3(PAH):c.493G>C (p.Ala165Pro) rs199475626
NM_000277.3(PAH):c.506G>C (p.Arg169Pro) rs199475679
NM_000277.3(PAH):c.510-5T>A rs1875378128
NM_000277.3(PAH):c.523C>T (p.Pro175Ser) rs199475604
NM_000277.3(PAH):c.561G>C (p.Trp187Cys) rs62507336
NM_000277.3(PAH):c.568G>A (p.Val190Met) rs281865441
NM_000277.3(PAH):c.617A>G (p.Tyr206Cys) rs62508728
NM_000277.3(PAH):c.620A>G (p.Asn207Ser) rs62508721
NM_000277.3(PAH):c.649T>C (p.Cys217Arg) rs62508718
NM_000277.3(PAH):c.668A>T (p.Asn223Ile) rs201245932
NM_000277.3(PAH):c.682G>A (p.Glu228Lys) rs281865444
NM_000277.3(PAH):c.718T>G (p.Phe240Val) rs62507337
NM_000277.3(PAH):c.740G>A (p.Gly247Asp) rs199475579
NM_000277.3(PAH):c.781C>G (p.Arg261Gly) rs5030850
NM_000277.3(PAH):c.800A>T (p.Gln267Leu) rs778154939
NM_000277.3(PAH):c.812A>T (p.His271Leu) rs199475692
NM_000277.3(PAH):c.842+4A>G rs1555204434
NM_000277.3(PAH):c.869A>T (p.His290Leu) rs62642919
NM_000277.3(PAH):c.870T>G (p.His290Gln) rs751203209
NM_000277.3(PAH):c.887A>G (p.Asp296Gly) rs281865446
NM_000277.3(PAH):c.895T>C (p.Phe299Leu) rs796064504
NM_000277.3(PAH):c.899C>T (p.Ala300Val) rs199475609
NM_000277.3(PAH):c.912+3A>C rs281865450
NM_000277.3(PAH):c.912G>A (p.Gln304=) rs199475583
NM_000277.3(PAH):c.913-3C>G rs281865451
NM_000277.3(PAH):c.913-8A>G rs281865452
NM_000282.4(PCCA):c.1353+5_1353+9del rs764045674
NM_000282.4(PCCA):c.1643+1_1643+2dup rs1555425626
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg) rs2152811823
NM_000282.4(PCCA):c.2040G>A (p.Ala680=) rs369982920
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs) rs749875940
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp) rs1555396108
NM_000282.4(PCCA):c.947T>A (p.Met316Lys) rs137861347
NM_000284.4(PDHA1):c.311T>C (p.Leu104Pro) rs794727621
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
NM_000284.4(PDHA1):c.871G>A (p.Gly291Arg) rs2147184517
NM_000287.4(PEX6):c.1238G>T (p.Gly413Val) rs1554127531
NM_000287.4(PEX6):c.1310G>A (p.Gly437Asp) rs771063294
NM_000287.4(PEX6):c.2095-21_2095-10del rs772869377
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro) rs267608247
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe) rs61753236
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000291.4(PGK1):c.639C>T (p.Gly213=) rs797044505
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys) rs1555988071
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs) rs2147799052
NM_000293.3(PHKB):c.594+1G>A
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys) rs2053339231
NM_000295.5(SERPINA1):c.611_612del (p.Thr204fs) rs921982028
NM_000297.4(PKD2):c.1258A>G (p.Arg420Gly) rs1727651995
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp) rs1578135842
NM_000297.4(PKD2):c.2019+5G>A rs1578142944
NM_000297.4(PKD2):c.2020-5A>G rs2110133917
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro) rs1578153598
NM_000297.4(PKD2):c.41del (p.Asp14fs) rs1474473957
NM_000297.4(PKD2):c.773T>C (p.Leu258Pro) rs2110104859
NM_000298.6(PKLR):c.1130T>C (p.Met377Thr)
NM_000298.6(PKLR):c.1174G>A (p.Ala392Thr) rs1403323591
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp) rs755522396
NM_000298.6(PKLR):c.1378G>A (p.Val460Met) rs752034960
NM_000298.6(PKLR):c.1552C>A (p.Arg518Ser) rs139002629
NM_000298.6(PKLR):c.1670G>C (p.Gly557Ala) rs1674489086
NM_000298.6(PKLR):c.1705C>T (p.Arg569Trp)
NM_000298.6(PKLR):c.257G>A (p.Arg86His)
NM_000298.6(PKLR):c.514G>C (p.Glu172Gln)
NM_000302.4(PLOD1):c.2170_2172del (p.Phe724del) rs1310692062
NM_000303.3(PMM2):c.140C>T (p.Ser47Leu)
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe) rs387906824
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.349G>T (p.Gly117Cys) rs104894530
NM_000303.3(PMM2):c.353C>G (p.Thr118Ser)
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.457A>G (p.Ile153Val) rs1596489094
NM_000303.3(PMM2):c.458T>G (p.Ile153Arg) rs150577656
NM_000303.3(PMM2):c.527G>A (p.Gly176Asp) rs940938678
NM_000303.3(PMM2):c.550C>A (p.Pro184Thr) rs1555449795
NM_000303.3(PMM2):c.617del (p.Phe206fs) rs1555449810
NM_000303.3(PMM2):c.61C>T (p.Arg21Trp) rs758340382
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085
NM_000304.4(PMP22):c.233T>C (p.Leu78Pro) rs1555565276
NM_000304.4(PMP22):c.308A>G (p.Gln103Arg) rs786204064
NM_000304.4(PMP22):c.341C>T (p.Ala114Val) rs1217342392
NM_000304.4(PMP22):c.392C>G (p.Ser131Cys) rs1597597627
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter) rs767712946
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.4(PPT1):c.362+5G>A rs796052924
NM_000310.4(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.4(PPT1):c.707T>A (p.Val236Glu) rs878853324
NM_000312.4(PROC):c.1155G>A (p.Met385Ile) rs1688692415
NM_000312.4(PROC):c.1207G>A (p.Gly403Arg)
NM_000312.4(PROC):c.355_372del (p.Ser119_Ser124del) rs1436671530
NM_000312.4(PROC):c.548G>T (p.Cys183Phe) rs1284942525
NM_000312.4(PROC):c.793C>T (p.Leu265Phe) rs121918156
NM_000313.4(PROS1):c.1501T>C (p.Ser501Pro) rs121918472
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg) rs1554826024
NM_000314.8(PTEN):c.105G>A (p.Met35Ile) rs1554893782
NM_000314.8(PTEN):c.106G>C (p.Gly36Arg) rs786204854
NM_000314.8(PTEN):c.140G>A (p.Arg47Lys) rs1057518425
NM_000314.8(PTEN):c.149T>C (p.Ile50Thr) rs1554893824
NM_000314.8(PTEN):c.152ATG[1] (p.Asp52del) rs1589617371
NM_000314.8(PTEN):c.182A>G (p.His61Arg) rs398123316
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) rs121909226
NM_000314.8(PTEN):c.334C>G (p.Leu112Val) rs2132242699
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.8(PTEN):c.402G>C (p.Met134Ile) rs1114167676
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000314.8(PTEN):c.512A>G (p.Gln171Arg) rs786204865
NM_000314.8(PTEN):c.521A>G (p.Tyr174Cys) rs864622341
NM_000314.8(PTEN):c.533A>G (p.Tyr178Cys) rs786204866
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del) rs1064793244
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.8(PTEN):c.64G>C (p.Asp22His) rs876660420
NM_000314.8(PTEN):c.67T>G (p.Leu23Val) rs876661244
NM_000314.8(PTEN):c.722T>C (p.Phe241Ser) rs121909240
NM_000314.8(PTEN):c.801G>T (p.Lys267Asn) rs1554825266
NM_000314.8(PTEN):c.802-2del rs886047397
NM_000314.8(PTEN):c.83T>C (p.Ile28Thr) rs1355570425
NM_000314.8(PTEN):c.91A>G (p.Asn31Asp) rs1859093459
NM_000316.3(PTH1R):c.1393G>A (p.Glu465Lys) rs1683106396
NM_000317.3(PTS):c.108C>G (p.Asn36Lys) rs1449216377
NM_000317.3(PTS):c.146A>G (p.His49Arg) rs750229518
NM_000317.3(PTS):c.209T>A (p.Val70Asp) rs1592880489
NM_000317.3(PTS):c.340A>G (p.Ile114Val) rs1555198495
NM_000317.3(PTS):c.400G>T (p.Glu134Ter) rs779681799
NM_000317.3(PTS):c.83+1G>A rs927103678
NM_000321.3(RB1):c.137G>C (p.Arg46Thr) rs2138028088
NM_000321.3(RB1):c.1498+4A>T
NM_000321.3(RB1):c.1960G>A (p.Val654Met) rs483352690
NM_000321.3(RB1):c.1961T>A (p.Val654Glu) rs769113950
NM_000321.3(RB1):c.1964A>G (p.Tyr655Cys) rs774196937
NM_000321.3(RB1):c.1982G>C (p.Arg661Pro)
NM_000321.3(RB1):c.2093G>C (p.Arg698Thr)
NM_000321.3(RB1):c.2094G>C (p.Arg698Ser) rs1131690891
NM_000321.3(RB1):c.2489G>A (p.Arg830Lys)
NM_000322.5(PRPH2):c.1011_1014dup (p.Ala339fs) rs1799984208
NM_000322.5(PRPH2):c.271T>C (p.Tyr91His) rs747893076
NM_000322.5(PRPH2):c.457A>G (p.Lys153Glu) rs2152010930
NM_000322.5(PRPH2):c.497G>A (p.Cys166Tyr) rs786205579
NM_000322.5(PRPH2):c.522G>C (p.Trp174Cys) rs1064793237
NM_000322.5(PRPH2):c.582-14T>A rs2152005424
NM_000322.5(PRPH2):c.582T>A (p.Asp194Glu) rs1331346375
NM_000322.5(PRPH2):c.583C>G (p.Arg195Gly) rs1322278463
NM_000322.5(PRPH2):c.595A>G (p.Asn199Asp) rs757988141
NM_000322.5(PRPH2):c.646C>T (p.Pro216Ser) rs61755805
NM_000322.5(PRPH2):c.656C>G (p.Pro219Arg) rs61755808
NM_000322.5(PRPH2):c.658C>T (p.Arg220Trp) rs61755809
NM_000322.5(PRPH2):c.737G>C (p.Trp246Ser) rs1582764697
NM_000322.5(PRPH2):c.758C>A (p.Ala253Asp) rs2152005234
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del) rs1582764519
NM_000322.5(PRPH2):c.995T>A (p.Val332Glu) rs1582759492
NM_000329.3(RPE65):c.1087C>T (p.Pro363Ser)
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) rs1645824187
NM_000329.3(RPE65):c.536C>T (p.Ala179Val) rs1645898265
NM_000329.3(RPE65):c.55G>A (p.Val19Met)
NM_000329.3(RPE65):c.683A>C (p.Gln228Pro) rs886046510
NM_000329.3(RPE65):c.718G>T (p.Val240Phe) rs192907397
NM_000329.3(RPE65):c.755T>C (p.Phe252Ser) rs1553153135
NM_000329.3(RPE65):c.982C>T (p.Leu328Phe) rs1169420841
NM_000330.4(RS1):c.251C>G (p.Ser84Cys)
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
NM_000330.4(RS1):c.52+3A>G rs2147209764
NM_000334.4(SCN4A):c.1173del (p.Phe392fs) rs1235665641
NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu) rs121908552
NM_000334.4(SCN4A):c.1762A>G (p.Ile588Val) rs2144798704
NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr) rs1057518865
NM_000334.4(SCN4A):c.3445G>T (p.Val1149Leu) rs1908692348
NM_000334.4(SCN4A):c.3893T>G (p.Phe1298Cys) rs886043595
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)
NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)
NM_000335.5(SCN5A):c.1007C>T (p.Pro336Leu) rs199473093
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys) rs199473100
NM_000335.5(SCN5A):c.2633G>A (p.Arg878His) rs199473587
NM_000335.5(SCN5A):c.2729C>T (p.Ser910Leu) rs199473175
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) rs137854605
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile) rs199473054
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.3110G>T (p.Gly1037Val)
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser) rs761274563
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys) rs1403211358
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr) rs199473224
NM_000335.5(SCN5A):c.3997A>G (p.Ile1333Val) rs199473226
NM_000335.5(SCN5A):c.4134CAA[1] (p.Asn1379del) rs794728922
NM_000335.5(SCN5A):c.4318G>C (p.Glu1440Gln) rs199473249
NM_000335.5(SCN5A):c.4335G>A (p.Met1445Ile) rs794728936
NM_000335.5(SCN5A):c.4336T>C (p.Tyr1446His) rs1064793326
NM_000335.5(SCN5A):c.4343A>T (p.Tyr1448Phe) rs199473613
NM_000335.5(SCN5A):c.4393A>G (p.Ile1465Val) rs794728881
NM_000335.5(SCN5A):c.4414T>C (p.Phe1472Leu) rs1057523393
NM_000335.5(SCN5A):c.4427A>C (p.Lys1476Thr)
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4481A>C (p.Tyr1494Ser) rs199473262
NM_000335.5(SCN5A):c.4490T>C (p.Met1497Thr) rs199473263
NM_000335.5(SCN5A):c.4717G>A (p.Glu1573Lys) rs199473620
NM_000335.5(SCN5A):c.4810+5G>A rs2125830430
NM_000335.5(SCN5A):c.4996G>A (p.Val1666Ile) rs199473293
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5131G>A (p.Gly1711Ser) rs199473298
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr) rs199473633
NM_000335.5(SCN5A):c.5543A>G (p.His1848Arg) rs794728898
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000335.5(SCN5A):c.5734C>T (p.Arg1912Cys)
NM_000335.5(SCN5A):c.611C>T (p.Ala204Val) rs199473559
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.5(SCN5A):c.935-3C>G rs766127222
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg) rs750836049
NM_000341.4(SLC3A1):c.1945G>A (p.Glu649Lys)
NM_000341.4(SLC3A1):c.283G>A (p.Ala95Thr)
NM_000341.4(SLC3A1):c.418G>A (p.Gly140Arg)
NM_000341.4(SLC3A1):c.679C>T (p.Arg227Trp)
NM_000342.4(SLC4A1):c.1987ATG[1] (p.Met664del)
NM_000342.4(SLC4A1):c.2188C>T (p.Arg730Cys) rs770569237
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp) rs373916826
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys) rs768831308
NM_000344.4(SMN1):c.*3+1G>A rs1290417835
NM_000344.4(SMN1):c.818A>T (p.His273Leu) rs1554082114
NM_000345.4(SNCA):c.158C>T (p.Ala53Val) rs542171324
NM_000346.4(SOX9):c.507C>G (p.His169Gln) rs2229989
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) rs752311616
NM_000350.3(ABCA4):c.1018T>C (p.Tyr340His) rs61748548
NM_000350.3(ABCA4):c.1019A>C (p.Tyr340Ser) rs1191143782
NM_000350.3(ABCA4):c.1570A>G (p.Lys524Glu) rs1570394071
NM_000350.3(ABCA4):c.1807T>C (p.Tyr603His) rs1064793006
NM_000350.3(ABCA4):c.1844T>C (p.Val615Ala) rs2101078285
NM_000350.3(ABCA4):c.1977G>A (p.Met659Ile) rs1661099730
NM_000350.3(ABCA4):c.2036A>T (p.Glu679Val) rs1553192420
NM_000350.3(ABCA4):c.2353C>G (p.Arg785Gly) rs781254854
NM_000350.3(ABCA4):c.2566T>A (p.Tyr856Asn) rs201223321
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu) rs58331765
NM_000350.3(ABCA4):c.2869C>A (p.Gln957Lys) rs398123338
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.2948C>T (p.Thr983Ile) rs61752411
NM_000350.3(ABCA4):c.3017G>A (p.Gly1006Asp) rs1660620340
NM_000350.3(ABCA4):c.3051-16T>A rs1064793009
NM_000350.3(ABCA4):c.3148G>A (p.Gly1050Ser)
NM_000350.3(ABCA4):c.3248T>A (p.Val1083Glu) rs1660531924
NM_000350.3(ABCA4):c.3607G>A (p.Gly1203Arg) rs1064793011
NM_000350.3(ABCA4):c.4128G>A (p.Gln1376=) rs1064797113
NM_000350.3(ABCA4):c.4220C>T (p.Pro1407Leu) rs1064797091
NM_000350.3(ABCA4):c.4352+5G>T rs1660166597
NM_000350.3(ABCA4):c.4519G>T (p.Gly1507Trp) rs568792949
NM_000350.3(ABCA4):c.4532C>T (p.Pro1511Leu) rs886046564
NM_000350.3(ABCA4):c.4552A>G (p.Ser1518Gly)
NM_000350.3(ABCA4):c.4859A>T (p.Asn1620Ile) rs1659893012
NM_000350.3(ABCA4):c.4880T>C (p.Leu1627Pro)
NM_000350.3(ABCA4):c.5065T>C (p.Ser1689Pro) rs61753020
NM_000350.3(ABCA4):c.5510C>T (p.Pro1837Leu) rs1571250077
NM_000350.3(ABCA4):c.5528G>A (p.Arg1843Gln)
NM_000350.3(ABCA4):c.5584+6T>C rs61750633
NM_000350.3(ABCA4):c.5714+5G>T rs61751407
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn) rs1553186514
NM_000350.3(ABCA4):c.6319C>A (p.Arg2107Ser) rs2297669
NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) rs2100993895
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.6788G>A (p.Arg2263Gln) rs281865407
NM_000350.3(ABCA4):c.769-784C>T
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.6(ABCC8):c.20G>A (p.Gly7Asp)
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro) rs1402090677
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro) rs1352191146
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val) rs137852675
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His) rs28936370
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro) rs796891223
NM_000352.6(ABCC8):c.579+2T>A rs1449198328
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr) rs121909212
NM_000359.3(TGM1):c.1571G>T (p.Gly524Val)
NM_000359.3(TGM1):c.635C>T (p.Ser212Phe) rs1555306304
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1118C>T (p.Thr373Met) rs868563700
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1335-1G>A rs1554922200
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn) rs730881066
NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp) rs730881085
NM_000363.5(TNNI3):c.150+1G>C rs2085732359
NM_000363.5(TNNI3):c.1A>G (p.Met1Val) rs397516341
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.282+2T>A rs2085728001
NM_000363.5(TNNI3):c.302A>G (p.His101Arg) rs730881087
NM_000363.5(TNNI3):c.488C>T (p.Ala163Val) rs727504367
NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn) rs1085308019
NM_000363.5(TNNI3):c.554A>G (p.Asn185Ser) rs730881079
NM_000363.5(TNNI3):c.562G>A (p.Val188Met) rs193922409
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) rs397516359
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr) rs727504365
NM_000368.5(TSC1):c.1029+3A>G rs1554817334
NM_000368.5(TSC1):c.134T>C (p.Leu45Ser) rs1554820662
NM_000368.5(TSC1):c.2042-5A>G rs118203627
NM_000368.5(TSC1):c.2502+1G>T
NM_000368.5(TSC1):c.350T>C (p.Leu117Pro) rs118203368
NM_000368.5(TSC1):c.737+3A>G rs118203439
NM_000368.5(TSC1):c.737G>T (p.Arg246Met)
NM_000369.5(TSHR):c.1462T>C (p.Trp488Arg) rs2140111252
NM_000369.5(TSHR):c.1523C>T (p.Ser508Leu) rs772490052
NM_000371.4(TTR):c.194C>T (p.Ala65Val) rs730881169
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.232C>G (p.Leu78Val)
NM_000371.4(TTR):c.259G>C (p.Gly87Arg) rs11541799
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.310A>C (p.Ile104Leu) rs781345808
NM_000371.4(TTR):c.326A>T (p.Glu109Val) rs2073511444
NM_000371.4(TTR):c.418G>T (p.Ala140Ser) rs876658108
NM_000372.5(TYR):c.1026T>G (p.Asn342Lys)
NM_000372.5(TYR):c.1130T>C (p.Val377Ala)
NM_000372.5(TYR):c.1234C>G (p.Pro412Ala) rs797046081
NM_000372.5(TYR):c.1259A>G (p.His420Arg) rs2135324283
NM_000372.5(TYR):c.1291C>A (p.Pro431Thr) rs368604842
NM_000372.5(TYR):c.1588T>A (p.Ter530Lys) rs2135332829
NM_000372.5(TYR):c.524T>C (p.Leu175Pro) rs1064795343
NM_000372.5(TYR):c.604C>T (p.His202Tyr) rs749096874
NM_000372.5(TYR):c.803TCT[1] (p.Phe269del) rs1064796028
NM_000373.4(UMPS):c.857T>A (p.Ile286Asn) rs200305064
NM_000376.3(VDR):c.985G>C (p.Glu329Gln)
NM_000380.4(XPA):c.10del (p.Ala4fs) rs779161471
NM_000380.4(XPA):c.323G>A (p.Cys108Tyr) rs104894131
NM_000380.4(XPA):c.323G>T (p.Cys108Phe) rs104894131
NM_000381.4(MID1):c.1943T>C (p.Leu648Pro)
NM_000382.3(ALDH3A2):c.1339A>G (p.Lys447Glu)
NM_000382.3(ALDH3A2):c.28C>T (p.Gln10Ter) rs72547554
NM_000382.3(ALDH3A2):c.681-14T>G rs1400349287
NM_000383.4(AIRE):c.199del (p.Leu66_Leu67insTer)
NM_000383.4(AIRE):c.43C>T (p.Arg15Cys) rs179363875
NM_000383.4(AIRE):c.916G>A (p.Gly306Arg) rs754932526
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter)
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.149G>A (p.Arg50Gln) rs1465696669
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000387.6(SLC25A20):c.82G>T (p.Gly28Cys) rs747335514
NM_000388.4(CASR):c.101T>C (p.Leu34Pro) rs1559955362
NM_000388.4(CASR):c.1250C>G (p.Ser417Cys) rs1576859379
NM_000388.4(CASR):c.1288G>A (p.Ala430Thr) rs201520875
NM_000388.4(CASR):c.1901T>C (p.Phe634Ser) rs2107649591
NM_000388.4(CASR):c.2045C>T (p.Pro682Leu) rs1553768989
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000388.4(CASR):c.3025C>T (p.Arg1009Ter) rs1256856876
NM_000388.4(CASR):c.346G>A (p.Ala116Thr) rs104893691
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.488C>G (p.Pro163Arg)
NM_000388.4(CASR):c.554G>T (p.Arg185Leu) rs104893689
NM_000388.4(CASR):c.61G>A (p.Gly21Arg) rs1064794290
NM_000388.4(CASR):c.664G>A (p.Gly222Arg) rs2107632066
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) rs1060502179
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000392.5(ABCC2):c.4175_4180del (p.Arg1392_Met1393del) rs749662916
NM_000393.5(COL5A2):c.1401G>A (p.Pro467=) rs1553515794
NM_000393.5(COL5A2):c.3309G>A (p.Pro1103=) rs878853978
NM_000394.4(CRYAA):c.440del (p.Gln147fs) rs1114167311
NM_000396.4(CTSK):c.505G>A (p.Asp169Asn) rs2101951545
NM_000396.4(CTSK):c.541T>C (p.Tyr181His) rs868112062
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
NM_000398.7(CYB5R3):c.434C>T (p.Pro145Leu)
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln) rs376556895
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro) rs137852337
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg) rs137852348
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys) rs968221254
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser) rs794727165
NM_000404.4(GLB1):c.1991del (p.Pro664fs) rs1553604677
NM_000404.4(GLB1):c.921G>A (p.Met307Ile) rs1575451599
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys) rs977975596
NM_000405.5(GM2A):c.164C>T (p.Pro55Leu) rs730882196
NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys) rs2145796377
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg) rs1006852881
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His) rs1554068136
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg) rs1554068272
NM_000414.4(HSD17B4):c.523G>A (p.Ala175Thr) rs1554062814
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
NM_000419.5(ITGA2B):c.1005_1013del (p.His335_Leu338delinsGln) rs1598381654
NM_000419.5(ITGA2B):c.2150T>C (p.Leu717Pro) rs2143447451
NM_000419.5(ITGA2B):c.2315C>G (p.Pro772Arg)
NM_000419.5(ITGA2B):c.2504C>T (p.Pro835Leu) rs369457651
NM_000419.5(ITGA2B):c.2507G>C (p.Gly836Ala) rs759664025
NM_000419.5(ITGA2B):c.476G>T (p.Gly159Val) rs2048641442
NM_000419.5(ITGA2B):c.574+5G>A rs1598383011
NM_000419.5(ITGA2B):c.59T>G (p.Leu20Arg)
NM_000419.5(ITGA2B):c.800G>A (p.Gly267Glu) rs2048627164
NM_000419.5(ITGA2B):c.886G>A (p.Gly296Arg) rs753264426
NM_000419.5(ITGA2B):c.889G>C (p.Ala297Pro) rs531610168
NM_000423.3(KRT2):c.555CAA[2] (p.Asn187del)
NM_000423.3(KRT2):c.566T>C (p.Phe189Ser) rs1064795317
NM_000424.4(KRT5):c.506G>C (p.Arg169Pro) rs60720877
NM_000426.4(LAMA2):c.1467+1G>A rs1554234161
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) rs1583469739
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr) rs143680577
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) rs143680577
NM_000426.4(LAMA2):c.6992+5G>A rs1221715098
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) rs202247792
NM_000428.3(LTBP2):c.1999A>C (p.Ile667Leu) rs137854859
NM_000428.3(LTBP2):c.3652+1G>C rs773910322
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000432.4(MYL2):c.3+1G>A
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.488A>G (p.Glu163Gly) rs397516407
NM_000432.4(MYL2):c.51_61del (p.Phe18fs) rs754744244
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser) rs730880944
NM_000432.4(MYL2):c.92_93+1del rs751392310
NM_000434.4(NEU1):c.839G>A (p.Arg280Gln)
NM_000435.3(NOTCH3):c.1305T>G (p.Cys435Trp) rs2046907170
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr) rs886041513
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
NM_000435.3(NOTCH3):c.1903C>T (p.Arg635Cys) rs753801611
NM_000435.3(NOTCH3):c.208G>T (p.Gly70Cys)
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly) rs1599395616
NM_000435.3(NOTCH3):c.260G>A (p.Cys87Tyr)
NM_000435.3(NOTCH3):c.2752G>T (p.Gly918Cys)
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys) rs2046832726
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe) rs2046807248
NM_000435.3(NOTCH3):c.3944G>A (p.Cys1315Tyr) rs1432396805
NM_000435.3(NOTCH3):c.601T>G (p.Cys201Gly) rs1599394654
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr) rs1599394351
NM_000435.3(NOTCH3):c.895A>T (p.Ser299Cys) rs2046926886
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) rs776918069
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000441.2(SLC26A4):c.1001+4A>G rs1262298247
NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met) rs397516414
NM_000441.2(SLC26A4):c.1228A>G (p.Thr410Ala) rs1286976213
NM_000441.2(SLC26A4):c.1234G>T (p.Val412Phe) rs111033527
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg) rs201660407
NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala) rs1057520369
NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del) rs111033207
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_000441.2(SLC26A4):c.1574C>T (p.Pro525Leu) rs765197819
NM_000441.2(SLC26A4):c.1670G>A (p.Gly557Asp) rs939755872
NM_000441.2(SLC26A4):c.1707+6T>C rs727505230
NM_000441.2(SLC26A4):c.1803G>A (p.Lys601=)
NM_000441.2(SLC26A4):c.1920G>C (p.Trp640Cys) rs368119540
NM_000441.2(SLC26A4):c.2090A>C (p.Asp697Ala) rs111033443
NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn) rs397516427
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.260A>G (p.Asp87Gly) rs111033344
NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp) rs2129311246
NM_000441.2(SLC26A4):c.419C>T (p.Pro140Leu)
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His) rs752916287
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly) rs2147047501
NM_000444.6(PHEX):c.1366T>C (p.Trp456Arg) rs1085308012
NM_000444.6(PHEX):c.1368G>C (p.Trp456Cys) rs886043680
NM_000444.6(PHEX):c.1382C>A (p.Thr461Lys) rs374873766
NM_000444.6(PHEX):c.1946G>A (p.Gly649Asp)
NM_000444.6(PHEX):c.1960T>A (p.Phe654Ile) rs1935508894
NM_000444.6(PHEX):c.2018T>C (p.Leu673Pro)
NM_000444.6(PHEX):c.2070+5G>C rs1057517797
NM_000444.6(PHEX):c.304G>T (p.Gly102Trp) rs1927580756
NM_000444.6(PHEX):c.332_334del (p.Val111del) rs1064795949
NM_000444.6(PHEX):c.499T>C (p.Trp167Arg) rs1064796435
NM_000444.6(PHEX):c.914T>G (p.Leu305Arg) rs1064796929
NM_000447.3(PSEN2):c.850A>G (p.Arg284Gly) rs1208742830
NM_000448.3(RAG1):c.1208C>T (p.Thr403Ile)
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser) rs199474690
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000454.5(SOD1):c.122A>G (p.Glu41Gly) rs1568809149
NM_000454.5(SOD1):c.425G>C (p.Gly142Ala)
NM_000454.5(SOD1):c.69G>C (p.Gln23His) rs1424217272
NM_000455.5(STK11):c.329T>A (p.Val110Asp) rs2145420687
NM_000455.5(STK11):c.374+2T>C rs1555737480
NM_000455.5(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.5(STK11):c.458C>A (p.Ala153Asp) rs1555737824
NM_000455.5(STK11):c.709G>T (p.Asp237Tyr) rs878853247
NM_000455.5(STK11):c.737ACA[1] (p.Asn247del)
NM_000455.5(STK11):c.854T>C (p.Leu285Pro) rs1555738724
NM_000455.5(STK11):c.869T>C (p.Leu290Pro) rs1057524439
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
NM_000458.4(HNF1B):c.1024T>C (p.Ser342Pro)
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
NM_000458.4(HNF1B):c.544+5G>A
NM_000458.4(HNF1B):c.704G>A (p.Arg235Gln)
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro) rs2147545592
NM_000458.4(HNF1B):c.884G>A (p.Arg295His)
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
NM_000459.5(TEK):c.2753G>A (p.Arg918His) rs1554701458
NM_000459.5(TEK):c.857G>T (p.Gly286Val) rs2131150099
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe) rs72551360
NM_000463.3(UGT1A1):c.686C>T (p.Pro229Leu) rs35350960
NM_000465.4(BARD1):c.1396-5A>G rs1559410251
NM_000465.4(BARD1):c.1568+5G>A
NM_000465.4(BARD1):c.1569-7T>G rs1559395026
NM_000465.4(BARD1):c.1677+5G>A rs587780019
NM_000465.4(BARD1):c.1904-2A>T rs864622239
NM_000465.4(BARD1):c.2001+3A>G rs1553612461
NM_000465.4(BARD1):c.2002-1G>A rs762601855
NM_000465.4(BARD1):c.2002-2A>C rs876658260
NM_000465.4(BARD1):c.2002-2A>G rs876658260
NM_000465.4(BARD1):c.2002-2A>T rs876658260
NM_000465.4(BARD1):c.211T>A (p.Cys71Ser) rs1060501308
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs) rs786203811
NM_000465.4(BARD1):c.215+5_215+8del rs876658777
NM_000465.4(BARD1):c.247T>C (p.Cys83Arg) rs1559437198
NM_000466.3(PEX1):c.2114T>G (p.Leu705Trp) rs863225084
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del) rs886043984
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His) rs1484321655
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro) rs954814470
NM_000466.3(PEX1):c.3115del (p.Thr1039fs) rs1562846257
NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000
NM_000478.6(ALPL):c.1099T>A (p.Ser367Thr)
NM_000478.6(ALPL):c.1143C>G (p.His381Gln) rs749419329
NM_000478.6(ALPL):c.1162T>G (p.Tyr388Asp)
NM_000478.6(ALPL):c.1189+5del rs1208855163
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys) rs1553414868
NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg) rs1644752699
NM_000478.6(ALPL):c.1343C>T (p.Pro448Leu) rs1131691372
NM_000478.6(ALPL):c.1400T>C (p.Met467Thr) rs763073466
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3]) rs2148158314
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp) rs1188506084
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn) rs916300043
NM_000478.6(ALPL):c.436G>C (p.Glu146Gln)
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg) rs747488546
NM_000478.6(ALPL):c.671A>T (p.Lys224Ile)
NM_000478.6(ALPL):c.697G>A (p.Asp233Asn)
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del) rs768940499
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_000481.4(AMT):c.515T>C (p.Leu172Pro) rs1366977126
NM_000481.4(AMT):c.797T>C (p.Leu266Pro) rs2049051428
NM_000481.4(AMT):c.970_972del (p.Met324del) rs386833691
NM_000484.4(APP):c.2030A>G (p.His677Arg) rs63749953
NM_000486.6(AQP2):c.450T>A (p.Asp150Glu) rs770932012
NM_000487.6(ARSA):c.1177_1178delinsGG (p.Thr393Gly) rs2146717703
NM_000487.6(ARSA):c.1200C>T (p.Phe400=) rs1175674325
NM_000487.6(ARSA):c.1211-2A>G rs74925710
NM_000487.6(ARSA):c.257G>T (p.Arg86Leu) rs74315458
NM_000487.6(ARSA):c.418C>G (p.His140Asp) rs199476358
NM_000487.6(ARSA):c.418del (p.His140fs) rs745884435
NM_000487.6(ARSA):c.421C>T (p.Gln141Ter) rs1057516730
NM_000487.6(ARSA):c.917C>T (p.Thr306Met) rs199476359
NM_000487.6(ARSA):c.937C>G (p.Arg313Gly) rs551472773
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp) rs199476390
NM_000487.6(ARSA):c.946G>A (p.Ala316Thr) rs199476368
NM_000488.4(SERPINC1):c.1141T>C (p.Ser381Pro) rs121909565
NM_000488.4(SERPINC1):c.1247dup (p.Ser417fs)
NM_000488.4(SERPINC1):c.1376C>A (p.Ala459Asp) rs1572084448
NM_000488.4(SERPINC1):c.536T>C (p.Phe179Ser) rs483352847
NM_000488.4(SERPINC1):c.592T>C (p.Tyr198His) rs1572090114
NM_000489.6(ATRX):c.4861A>G (p.Thr1621Ala)
NM_000489.6(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.6(ATRX):c.6149T>C (p.Ile2050Thr) rs122445110
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del) rs2066119604
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro) rs1562892293
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.4(CFTR):c.1175T>G (p.Val392Gly) rs397508170
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.4(CFTR):c.1369G>C (p.Ala457Pro) rs1554382664
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu) rs121908805
NM_000492.4(CFTR):c.1411A>T (p.Ile471Phe)
NM_000492.4(CFTR):c.1424T>G (p.Leu475Arg)
NM_000492.4(CFTR):c.1438G>A (p.Gly480Ser) rs79282516
NM_000492.4(CFTR):c.1478A>T (p.Gln493Leu)
NM_000492.4(CFTR):c.1516A>C (p.Ile506Leu) rs1800091
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1538A>G (p.Asp513Gly) rs397508225
NM_000492.4(CFTR):c.1541A>G (p.Glu514Gly)
NM_000492.4(CFTR):c.1550A>C (p.Tyr517Ser)
NM_000492.4(CFTR):c.1571G>A (p.Cys524Tyr) rs1554384440
NM_000492.4(CFTR):c.164+2dup rs1554375870
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser) rs397508280
NM_000492.4(CFTR):c.1714G>A (p.Asp572Asn) rs397508282
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val) rs397508297
NM_000492.4(CFTR):c.1810A>C (p.Thr604Pro) rs1554389267
NM_000492.4(CFTR):c.1811C>T (p.Thr604Ile) rs397508308
NM_000492.4(CFTR):c.1826A>T (p.His609Leu) rs397508310
NM_000492.4(CFTR):c.1860T>G (p.His620Gln) rs397508315
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1993A>T (p.Thr665Ser) rs1177201180
NM_000492.4(CFTR):c.2252G>T (p.Arg751Leu) rs397508357
NM_000492.4(CFTR):c.253G>C (p.Gly85Arg)
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu) rs397508395
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2907A>C (p.Ala969=) rs377502207
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser) rs397508453
NM_000492.4(CFTR):c.2909-15T>G rs397508455
NM_000492.4(CFTR):c.2929T>C (p.Ser977Pro) rs137975784
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.305T>G (p.Leu102Arg) rs397508490
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu) rs1554392023
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
NM_000492.4(CFTR):c.3140-11A>G
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.323C>T (p.Ser108Phe) rs397508520
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.4(CFTR):c.331C>G (p.Pro111Ala) rs397508541
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu) rs78655421
NM_000492.4(CFTR):c.3717+5G>A rs193922520
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile) rs397508634
NM_000492.4(CFTR):c.4004T>C (p.Leu1335Pro) rs397508658
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn) rs200955612
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.422C>A (p.Ala141Asp) rs397508700
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) rs753173837
NM_000492.4(CFTR):c.449T>A (p.Met150Lys) rs1562889397
NM_000492.4(CFTR):c.488A>T (p.Lys163Met) rs1562889435
NM_000492.4(CFTR):c.523A>G (p.Ile175Val) rs397508744
NM_000492.4(CFTR):c.533G>A (p.Gly178Glu) rs397508748
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.567C>A (p.Asn189Lys) rs397508755
NM_000492.4(CFTR):c.580G>A (p.Gly194Arg) rs376008630
NM_000492.4(CFTR):c.614C>G (p.Pro205Arg) rs397508769
NM_000492.4(CFTR):c.742A>G (p.Arg248Gly) rs1554380515
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.941G>T (p.Gly314Val) rs75763344
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000504.4(F10):c.1325G>A (p.Gly442Asp) rs1233330150
NM_000504.4(F10):c.160G>A (p.Glu54Lys) rs121964939
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro) rs755832705
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg) rs2142993896
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr) rs2143013504
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del) rs1567519221
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn) rs1967935603
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr) rs2142993806
NM_000512.5(GALNS):c.121-7C>G rs1004936255
NM_000512.5(GALNS):c.122T>A (p.Met41Lys) rs1555523411
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg) rs752937387
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu) rs398123432
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del) rs1909818289
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser) rs1204485789
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu) rs1482155729
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu) rs1597515555
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser) rs948490589
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu) rs2143005523
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys) rs2143005086
NM_000512.5(GALNS):c.289T>G (p.Phe97Val) rs2143005083
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly) rs2143005072
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.3G>A (p.Met1Ile) rs2143013681
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg) rs794727625
NM_000512.5(GALNS):c.425A>G (p.His142Arg) rs1288895691
NM_000512.5(GALNS):c.426T>A (p.His142Gln) rs754616917
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu) rs2143002437
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys) rs1301146300
NM_000512.5(GALNS):c.47T>A (p.Val16Glu) rs794729202
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr) rs761725425
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr) rs2143002331
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser) rs2143002317
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp) rs2143001744
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr) rs368603508
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp) rs61742258
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del) rs1389218771
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser) rs118204448
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro) rs2142999202
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.305C>T (p.Ala102Val) rs1131691999
NM_000516.7(GNAS):c.349G>A (p.Val117Met) rs1555889031
NM_000516.7(GNAS):c.446A>G (p.His149Arg) rs2146208770
NM_000516.7(GNAS):c.499_501del (p.Asn167del) rs2090976492
NM_000516.7(GNAS):c.502G>A (p.Glu168Lys)
NM_000516.7(GNAS):c.569A>G (p.Tyr190Cys)
NM_000516.7(GNAS):c.575C>T (p.Pro192Leu) rs2091273769
NM_000516.7(GNAS):c.793C>T (p.Arg265Cys) rs1555891595
NM_000516.7(GNAS):c.883G>T (p.Asp295Tyr) rs2146291027
NM_000517.6(HBA2):c.369C>G (p.His123Gln) rs41479347
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.191A>G (p.His64Arg) rs33985544
NM_000518.4(HBB):c.365A>T (p.Glu122Val) rs33987957
NM_000518.5(HBB):c.*132C>T rs1420779550
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000518.5(HBB):c.-140C>G rs34999973
NM_000518.5(HBB):c.-77_-76del rs63750953
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.199A>G (p.Lys67Glu) rs34165323
NM_000518.5(HBB):c.380T>A (p.Val127Glu) rs33925391
NM_000518.5(HBB):c.90C>T (p.Gly30=) rs35578002
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) rs121907973
NM_000520.6(HEXA):c.611A>G (p.His204Arg) rs121907976
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) rs758166013
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) rs1057521137
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) rs1057519462
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) rs121907977
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg) rs745454291
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.771+985G>A
NM_000525.4(KCNJ11):c.148C>T (p.Arg50Trp)
NM_000525.4(KCNJ11):c.490C>T (p.Leu164Phe) rs1554901796
NM_000525.4(KCNJ11):c.536A>C (p.Glu179Ala) rs587783671
NM_000525.4(KCNJ11):c.556C>T (p.His186Tyr)
NM_000527.4(LDLR):c.-139_-130delCTCCCCCTGC rs2077055015
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) rs544453230
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1007A>G (p.Tyr336Cys) rs879254750
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
NM_000527.5(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.5(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1070A>G (p.Glu357Gly) rs753248521
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1110C>G (p.Asn370Lys) rs879254793
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1154T>G (p.Leu385Arg) rs879254809
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.5(LDLR):c.1196C>A (p.Ala399Asp) rs875989918
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1202T>A (p.Leu401His) rs121908038
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) rs879254830
NM_000527.5(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.5(LDLR):c.1210A>T (p.Thr404Ser)
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln) rs137943601
NM_000527.5(LDLR):c.1223A>C (p.Glu408Ala) rs879254838
NM_000527.5(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.5(LDLR):c.1285G>C (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro) rs28942079
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly) rs879254861
NM_000527.5(LDLR):c.1322T>A (p.Ile441Asn) rs879254862
NM_000527.5(LDLR):c.1323C>G (p.Ile441Met) rs5933
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe) rs761004553
NM_000527.5(LDLR):c.1367T>A (p.Leu456His) rs200143634
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) rs1057516128
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn) rs879254895
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1441G>A (p.Val481Met) rs879254903
NM_000527.5(LDLR):c.1444G>T (p.Asp482Tyr) rs139624145
NM_000527.5(LDLR):c.1447T>C (p.Trp483Arg) rs879254905
NM_000527.5(LDLR):c.1455C>G (p.His485Gln) rs879254908
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) rs755667663
NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp) rs879254926
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
NM_000527.5(LDLR):c.1570G>A (p.Val524Met)
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1576C>A (p.Pro526Thr) rs730882106
NM_000527.5(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.5(LDLR):c.1577C>G (p.Pro526Arg) rs879254944
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
NM_000527.5(LDLR):c.1585G>C (p.Gly529Arg)
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1587-3C>G
NM_000527.5(LDLR):c.1592T>C (p.Met531Thr)
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del) rs879254953
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) rs879254968
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala) rs28941776
NM_000527.5(LDLR):c.1678A>T (p.Ile560Phe) rs1131692213
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) rs879254983
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys) rs879254985
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) rs879254421
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1705G>T (p.Asp569Tyr) rs879254993
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1731G>C (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.5(LDLR):c.1738T>C (p.Ser580Pro) rs1057519675
NM_000527.5(LDLR):c.1749C>G (p.His583Gln) rs879255009
NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1796T>G (p.Leu599Trp) rs879255025
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro) rs2077475503
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1840T>A (p.Phe614Ile) rs879255043
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly) rs1057519677
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.5(LDLR):c.185C>G (p.Thr62Arg) rs376207800
NM_000527.5(LDLR):c.1860G>T (p.Trp620Cys) rs875989933
NM_000527.5(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) rs879255067
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val) rs765736500
NM_000527.5(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.5(LDLR):c.190+5G>A rs1131692190
NM_000527.5(LDLR):c.1904C>T (p.Thr635Ile) rs879255071
NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp) rs879255072
NM_000527.5(LDLR):c.1907G>T (p.Gly636Val) rs879255072
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1936C>A (p.Leu646Ile) rs779940524
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser) rs879255080
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1952A>T (p.Asp651Val) rs563382937
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.5(LDLR):c.1960C>T (p.Leu654Phe) rs879255087
NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro) rs2077526349
NM_000527.5(LDLR):c.1968C>G (p.His656Gln) rs879255091
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala) rs1182317785
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.5(LDLR):c.2041T>A (p.Cys681Ser)
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu) rs759858813
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.5(LDLR):c.2120A>T (p.Asp707Val) rs879255143
NM_000527.5(LDLR):c.2125A>G (p.Arg709Gly) rs1057519684
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup) rs1131692222
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2260G>T (p.Gly754Trp) rs559239150
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2389G>T (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2392CTC[1] (p.Leu799del) rs879255195
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2397_2412del (p.Val800fs) rs879255197
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.240C>A (p.Asn80Lys) rs879254444
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.241C>A (p.Arg81Ser) rs730882078
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2473A>G (p.Asn825Asp) rs879255215
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.251C>G (p.Pro84Arg) rs875989892
NM_000527.5(LDLR):c.251C>T (p.Pro84Leu) rs875989892
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
NM_000527.5(LDLR):c.283T>G (p.Cys95Gly) rs879254456
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.5(LDLR):c.292G>C (p.Gly98Arg) rs750474121
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.313+6T>C rs879254468
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg) rs869320648
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp) rs879254498
NM_000527.5(LDLR):c.391G>C (p.Asp131His) rs879254511
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn) rs879254513
NM_000527.5(LDLR):c.409G>T (p.Gly137Cys) rs730882082
NM_000527.5(LDLR):c.44T>A (p.Leu15His) rs879254390
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000527.5(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.5(LDLR):c.491T>C (p.Leu164Pro) rs879254544
NM_000527.5(LDLR):c.510C>A (p.Asp170Glu) rs1060499931
NM_000527.5(LDLR):c.530C>G (p.Ser177Trp)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.5(LDLR):c.605T>C (p.Phe202Ser) rs879254590
NM_000527.5(LDLR):c.613C>G (p.Leu205Val) rs1131692196
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn) rs879254601
NM_000527.5(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.5(LDLR):c.656_661del (p.Gly219_Pro220del) rs879254617
NM_000527.5(LDLR):c.672C>A (p.Asp224Glu) rs1057519658
NM_000527.5(LDLR):c.679G>C (p.Asp227His) rs2077282480
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.758G>C (p.Arg253Pro) rs139507589
NM_000527.5(LDLR):c.762G>T (p.Gln254His) rs764526789
NM_000527.5(LDLR):c.763T>G (p.Cys255Gly) rs879254668
NM_000527.5(LDLR):c.768C>A (p.Asp256Glu) rs879254671
NM_000527.5(LDLR):c.782G>A (p.Cys261Tyr) rs121908040
NM_000527.5(LDLR):c.799G>A (p.Glu267Lys) rs879254679
NM_000527.5(LDLR):c.800A>C (p.Glu267Ala) rs879254680
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.887G>C (p.Cys296Ser) rs879254707
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) rs879254711
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.5(LDLR):c.910G>C (p.Asp304His) rs121908030
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.5(LDLR):c.915G>C (p.Trp305Cys) rs757252110
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.5(LDLR):c.920A>C (p.Asp307Ala)
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.947A>C (p.Asn316Thr) rs730882094
NM_000527.5(LDLR):c.948C>G (p.Asn316Lys) rs780673258
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.5(LDLR):c.980A>C (p.His327Pro) rs2077361686
NM_000527.5(LDLR):c.981C>A (p.His327Gln) rs1060499933
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro) rs864621980
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe) rs864621984
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter) rs886054230
NM_000528.4(MAN2B1):c.159+2T>C rs1057516501
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe) rs864621975
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu) rs387906261
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg) rs398123456
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp) rs864621994
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr)
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu) rs864621978
NM_000530.8(MPZ):c.176C>T (p.Ser59Leu) rs879254297
NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr) rs797044941
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys) rs121913603
NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter) rs1571818632
NM_000530.8(MPZ):c.703AAG[1] (p.Lys236del) rs755446743
NM_000530.8(MPZ):c.94G>T (p.Val32Phe) rs1034932344
NM_000531.6(OTC):c.1027A>G (p.Thr343Ala)
NM_000531.6(OTC):c.1063T>G (p.Ter355Gly) rs2147349974
NM_000531.6(OTC):c.228A>C (p.Leu76Phe) rs1555972495
NM_000531.6(OTC):c.485G>C (p.Gly162Ala) rs72556272
NM_000531.6(OTC):c.608C>T (p.Ser203Phe) rs72558410
NM_000531.6(OTC):c.622G>T (p.Ala208Ser)
NM_000532.5(PCCB):c.1088C>T (p.Ser363Leu) rs2108226720
NM_000532.5(PCCB):c.1127G>T (p.Arg376Leu) rs142982097
NM_000532.5(PCCB):c.1222ATC[1] (p.Ile409del)
NM_000532.5(PCCB):c.1253C>T (p.Ala418Val)
NM_000532.5(PCCB):c.1313C>A (p.Ala438Asp)
NM_000532.5(PCCB):c.1503del (p.Phe501fs) rs1553785139
NM_000532.5(PCCB):c.183+3G>C rs398123461
NM_000532.5(PCCB):c.183+5G>A rs879253813
NM_000532.5(PCCB):c.319G>A (p.Val107Met) rs1553774114
NM_000532.5(PCCB):c.611C>T (p.Ala204Val) rs760499581
NM_000532.5(PCCB):c.682C>G (p.Pro228Ala) rs1052979420
NM_000532.5(PCCB):c.749A>G (p.His250Arg) rs1933813724
NM_000532.5(PCCB):c.763G>A (p.Gly255Ser) rs1553778909
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455
NM_000533.5(PLP1):c.739G>A (p.Ala247Thr) rs886043504
NM_000535.7(PMS2):c.1144+5G>C rs1783506726
NM_000535.7(PMS2):c.163+5G>C
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2528G>A (p.Cys843Tyr) rs267608174
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202
NM_000539.3(RHO):c.284T>C (p.Leu95Pro) rs2084758666
NM_000539.3(RHO):c.677T>C (p.Leu226Pro) rs2084786958
NM_000539.3(RHO):c.755G>C (p.Arg252Pro) rs765438313
NM_000540.3(RYR1):c.10229C>G (p.Pro3410Arg)
NM_000540.3(RYR1):c.10501G>T (p.Asp3501Tyr) rs763259167
NM_000540.3(RYR1):c.10548G>T (p.Lys3516Asn)
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu) rs1600921854
NM_000540.3(RYR1):c.11132C>G (p.Thr3711Arg) rs375915752
NM_000540.3(RYR1):c.1114AAG[2] (p.Lys374del) rs745569223
NM_000540.3(RYR1):c.11159_11162dup (p.Tyr3722fs) rs2145736348
NM_000540.3(RYR1):c.11315G>T (p.Arg3772Leu) rs193922839
NM_000540.3(RYR1):c.11608+1G>C
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter) rs1447117024
NM_000540.3(RYR1):c.11947C>T (p.Arg3983Cys) rs1600989183
NM_000540.3(RYR1):c.11958C>G (p.Asp3986Glu) rs193922842
NM_000540.3(RYR1):c.1198G>A (p.Ala400Thr) rs777016690
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs) rs1419938249
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu) rs794728696
NM_000540.3(RYR1):c.12319del (p.Ile4107fs) rs754572007
NM_000540.3(RYR1):c.12544_12570del (p.Ile4182_Glu4190del) rs1238215145
NM_000540.3(RYR1):c.12652T>C (p.Phe4218Leu) rs1568581720
NM_000540.3(RYR1):c.12700G>A (p.Val4234Met)
NM_000540.3(RYR1):c.130C>T (p.Arg44Cys) rs193922748
NM_000540.3(RYR1):c.13690C>T (p.Arg4564Trp) rs753208767
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val) rs1599646668
NM_000540.3(RYR1):c.13724A>C (p.Asn4575Thr) rs1568591803
NM_000540.3(RYR1):c.13892A>G (p.Tyr4631Cys) rs1568593922
NM_000540.3(RYR1):c.13909A>C (p.Thr4637Pro)
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val) rs756850145
NM_000540.3(RYR1):c.14051T>C (p.Phe4684Ser) rs193922864
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg) rs2145874187
NM_000540.3(RYR1):c.14285C>T (p.Pro4762Leu)
NM_000540.3(RYR1):c.14364+1G>A rs1974046221
NM_000540.3(RYR1):c.14378T>G (p.Leu4793Arg) rs118192179
NM_000540.3(RYR1):c.14385G>A (p.Trp4795Ter) rs565173276
NM_000540.3(RYR1):c.14386T>C (p.Tyr4796His) rs1568604251
NM_000540.3(RYR1):c.1440+2T>G rs1555767403
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.14421CTT[2] (p.Phe4810del) rs1555803810
NM_000540.3(RYR1):c.14537C>T (p.Ala4846Val) rs118192143
NM_000540.3(RYR1):c.14555A>G (p.Tyr4852Cys) rs886042826
NM_000540.3(RYR1):c.14573A>G (p.Asn4858Ser) rs1555803933
NM_000540.3(RYR1):c.14581C>A (p.Arg4861Ser)
NM_000540.3(RYR1):c.14600G>A (p.Ser4867Asn) rs587784373
NM_000540.3(RYR1):c.14642T>C (p.Met4881Thr) rs1568605367
NM_000540.3(RYR1):c.14647-3_14647del rs1568611362
NM_000540.3(RYR1):c.14672G>A (p.Gly4891Asp) rs398123470
NM_000540.3(RYR1):c.14677C>T (p.Arg4893Trp) rs118192150
NM_000540.3(RYR1):c.14680G>C (p.Ala4894Pro) rs193922888
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000540.3(RYR1):c.14761TTC[3] (p.Phe4924del) rs1064794572
NM_000540.3(RYR1):c.14801A>G (p.Gln4934Arg) rs1568611775
NM_000540.3(RYR1):c.14804-1G>T rs193922894
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val) rs2145917369
NM_000540.3(RYR1):c.14815G>A (p.Asp4939Asn) rs760010175
NM_000540.3(RYR1):c.14817C>G (p.Asp4939Glu) rs193922895
NM_000540.3(RYR1):c.14929G>C (p.Glu4977Gln) rs200777598
NM_000540.3(RYR1):c.15030T>A (p.Tyr5010Ter) rs1064797243
NM_000540.3(RYR1):c.1588C>T (p.Arg530Cys) rs757399861
NM_000540.3(RYR1):c.165+1G>A
NM_000540.3(RYR1):c.177del (p.Asp60fs) rs756326114
NM_000540.3(RYR1):c.1859T>A (p.Ile620Asn)
NM_000540.3(RYR1):c.2044C>T (p.Arg682Trp) rs776252106
NM_000540.3(RYR1):c.212C>A (p.Ser71Tyr) rs118192113
NM_000540.3(RYR1):c.2195del (p.Pro732fs) rs1568452917
NM_000540.3(RYR1):c.2287G>A (p.Val763Met) rs369947687
NM_000540.3(RYR1):c.2682G>A (p.Pro894=) rs919322708
NM_000540.3(RYR1):c.2984G>A (p.Trp995Ter) rs1440262870
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter) rs759085500
NM_000540.3(RYR1):c.3291C>T (p.Gly1097=) rs1234999215
NM_000540.3(RYR1):c.3494G>A (p.Gly1165Asp) rs559581937
NM_000540.3(RYR1):c.3713_3715dup (p.Ser1238dup) rs761789667
NM_000540.3(RYR1):c.3799C>A (p.Pro1267Thr) rs564495912
NM_000540.3(RYR1):c.3800C>A (p.Pro1267His) rs150495044
NM_000540.3(RYR1):c.3800C>G (p.Pro1267Arg) rs150495044
NM_000540.3(RYR1):c.38T>G (p.Leu13Arg) rs193922744
NM_000540.3(RYR1):c.4294-1G>C
NM_000540.3(RYR1):c.4935-1G>C
NM_000540.3(RYR1):c.5005T>C (p.Tyr1669His)
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.530G>A (p.Arg177His)
NM_000540.3(RYR1):c.5435T>C (p.Leu1812Pro) rs1969278145
NM_000540.3(RYR1):c.5910G>C (p.Gln1970His) rs1555780327
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_000540.3(RYR1):c.6220AAG[2] (p.Lys2076del)
NM_000540.3(RYR1):c.6353G>A (p.Arg2118Gln)
NM_000540.3(RYR1):c.643G>A (p.Gly215Arg) rs1393197844
NM_000540.3(RYR1):c.6502G>C (p.Val2168Leu)
NM_000540.3(RYR1):c.6610C>T (p.His2204Tyr) rs745432757
NM_000540.3(RYR1):c.6612C>G (p.His2204Gln) rs141646642
NM_000540.3(RYR1):c.6701G>A (p.Arg2234His)
NM_000540.3(RYR1):c.6707T>G (p.Leu2236Arg) rs1969830618
NM_000540.3(RYR1):c.6757C>T (p.His2253Tyr) rs917523269
NM_000540.3(RYR1):c.680A>T (p.Asp227Val) rs193922760
NM_000540.3(RYR1):c.6814C>T (p.Pro2272Ser) rs777460436
NM_000540.3(RYR1):c.7035C>G (p.Ser2345Arg) rs1448949048
NM_000540.3(RYR1):c.7060G>A (p.Val2354Met) rs746971794
NM_000540.3(RYR1):c.7261G>A (p.Ala2421Thr)
NM_000540.3(RYR1):c.7298T>C (p.Leu2433Pro) rs1600822174
NM_000540.3(RYR1):c.7303C>T (p.Arg2435Cys) rs1970033550
NM_000540.3(RYR1):c.7310C>T (p.Ala2437Val) rs193922812
NM_000540.3(RYR1):c.7355G>A (p.Arg2452Gln) rs193922815
NM_000540.3(RYR1):c.742G>T (p.Gly248Trp) rs1801086
NM_000540.3(RYR1):c.7775dup (p.Arg2593fs) rs1281875506
NM_000540.3(RYR1):c.7777C>G (p.Arg2593Gly) rs756685891
NM_000540.3(RYR1):c.7836-2A>G
NM_000540.3(RYR1):c.7879G>A (p.Val2627Met) rs914804033
NM_000540.3(RYR1):c.8067+1G>A
NM_000540.3(RYR1):c.8196del (p.Gly2733fs) rs1600844997
NM_000540.3(RYR1):c.848A>G (p.His283Arg)
NM_000540.3(RYR1):c.8554C>T (p.Arg2852Ter) rs886054396
NM_000540.3(RYR1):c.9001-2A>G rs774119942
NM_000540.3(RYR1):c.9103G>C (p.Glu3035Gln) rs1053579438
NM_000540.3(RYR1):c.9130T>C (p.Cys3044Arg) rs1970727401
NM_000540.3(RYR1):c.9499C>T (p.Arg3167Ter) rs1171637302
NM_000540.3(RYR1):c.9554+1G>A
NM_000540.3(RYR1):c.958G>A (p.Glu320Lys) rs1568440962
NM_000540.3(RYR1):c.97A>G (p.Lys33Glu) rs193922746
NM_000540.3(RYR1):c.982C>T (p.Arg328Trp) rs193922762
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.1547A>G (p.His516Arg) rs754979734
NM_000543.5(SMPD1):c.1718G>C (p.Trp573Ser) rs2134024060
NM_000543.5(SMPD1):c.362T>C (p.Leu121Pro) rs1554934109
NM_000543.5(SMPD1):c.488T>C (p.Leu163Pro) rs780134410
NM_000543.5(SMPD1):c.56del (p.Gln19fs) rs1554933746
NM_000543.5(SMPD1):c.682T>C (p.Cys228Arg) rs1564923612
NM_000543.5(SMPD1):c.698C>T (p.Ser233Phe) rs1847925080
NM_000543.5(SMPD1):c.955G>C (p.Gly319Arg) rs757934797
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000543.5(SMPD1):c.995C>T (p.Pro332Leu) rs202081954
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1781G>T (p.Ser594Ile) rs2135854451
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu) rs1876667856
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup) rs193922596
NM_000545.8(HNF1A):c.445A>G (p.Asn149Asp) rs1565883574
NM_000545.8(HNF1A):c.616T>A (p.Trp206Arg) rs1057524898
NM_000545.8(HNF1A):c.620G>A (p.Gly207Asp) rs1555211922
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_000546.6(TP53):c.293C>T (p.Pro98Leu) rs1245723119
NM_000546.6(TP53):c.314G>A (p.Gly105Asp) rs587781504
NM_000546.6(TP53):c.319T>G (p.Tyr107Asp) rs368771578
NM_000546.6(TP53):c.332T>A (p.Leu111Gln) rs1057519997
NM_000546.6(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_000546.6(TP53):c.336CTT[1] (p.Phe113del) rs764486868
NM_000546.6(TP53):c.337T>G (p.Phe113Val) rs587781642
NM_000546.6(TP53):c.358A>G (p.Lys120Glu) rs121912658
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.377A>G (p.Tyr126Cys) rs1555526335
NM_000546.6(TP53):c.379T>A (p.Ser127Thr) rs1597371694
NM_000546.6(TP53):c.380C>A (p.Ser127Tyr) rs730881999
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_000546.6(TP53):c.390CAA[1] (p.Asn131del) rs879254214
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.400T>G (p.Phe134Val) rs267605077
NM_000546.6(TP53):c.402T>A (p.Phe134Leu) rs1555526278
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.434T>A (p.Leu145Gln) rs587782197
NM_000546.6(TP53):c.434T>C (p.Leu145Pro) rs587782197
NM_000546.6(TP53):c.440T>A (p.Val147Asp) rs1453167097
NM_000546.6(TP53):c.464C>A (p.Thr155Asn) rs786202752
NM_000546.6(TP53):c.470T>A (p.Val157Asp) rs1131691023
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.482C>A (p.Ala161Asp) rs1064795691
NM_000546.6(TP53):c.485T>G (p.Ile162Ser) rs587780069
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_000546.6(TP53):c.490A>G (p.Lys164Glu) rs879254249
NM_000546.6(TP53):c.503A>G (p.His168Arg) rs867114783
NM_000546.6(TP53):c.514G>T (p.Val172Phe) rs1131691043
NM_000546.6(TP53):c.515T>A (p.Val172Asp) rs1131691021
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_000546.6(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>A (p.His179Asn) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.560-9T>A rs794727781
NM_000546.6(TP53):c.569C>G (p.Pro190Arg) rs876660825
NM_000546.6(TP53):c.577C>G (p.His193Asp) rs876658468
NM_000546.6(TP53):c.578A>T (p.His193Leu) rs786201838
NM_000546.6(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_000546.6(TP53):c.587G>T (p.Arg196Leu) rs483352697
NM_000546.6(TP53):c.589G>A (p.Val197Met) rs786204041
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_000546.6(TP53):c.623A>T (p.Asp208Val) rs1464727668
NM_000546.6(TP53):c.632C>T (p.Thr211Ile) rs2073331490
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.646G>T (p.Val216Leu) rs730882025
NM_000546.6(TP53):c.652G>A (p.Val218Met) rs878854072
NM_000546.6(TP53):c.653T>G (p.Val218Gly) rs1555525743
NM_000546.6(TP53):c.655C>T (p.Pro219Ser) rs879253894
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn) rs530941076
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp) rs530941076
NM_000546.6(TP53):c.698ACTACA[1] (p.Asn235_Tyr236del) rs794727846
NM_000546.6(TP53):c.703A>G (p.Asn235Asp) rs786204145
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys) rs730882026
NM_000546.6(TP53):c.709A>G (p.Met237Val) rs730882004
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.721T>G (p.Ser241Ala) rs1057520002
NM_000546.6(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_000546.6(TP53):c.724T>C (p.Cys242Arg) rs1057519982
NM_000546.6(TP53):c.725G>C (p.Cys242Ser) rs121912655
NM_000546.6(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_000546.6(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_000546.6(TP53):c.747G>C (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.747_748delinsTA (p.Arg249_Pro250delinsSerThr)
NM_000546.6(TP53):c.752T>A (p.Ile251Asn) rs730882027
NM_000546.6(TP53):c.752T>G (p.Ile251Ser) rs730882027
NM_000546.6(TP53):c.757A>C (p.Thr253Pro)
NM_000546.6(TP53):c.758C>T (p.Thr253Ile) rs1555525465
NM_000546.6(TP53):c.763A>T (p.Ile255Phe) rs1057519995
NM_000546.6(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_000546.6(TP53):c.766A>C (p.Thr256Pro) rs587781433
NM_000546.6(TP53):c.770T>C (p.Leu257Pro) rs28934577
NM_000546.6(TP53):c.773A>G (p.Glu258Gly) rs1060501201
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.811G>A (p.Glu271Lys) rs1060501191
NM_000546.6(TP53):c.815T>A (p.Val272Glu) rs876660333
NM_000546.6(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_000546.6(TP53):c.820G>T (p.Val274Phe) rs1057520005
NM_000546.6(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.823T>G (p.Cys275Gly) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.827C>A (p.Ala276Asp) rs786202082
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.830G>T (p.Cys277Phe) rs763098116
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.833C>A (p.Pro278His) rs876659802
NM_000546.6(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_000546.6(TP53):c.835G>A (p.Gly279Arg) rs1555525248
NM_000546.6(TP53):c.836G>A (p.Gly279Glu) rs1064793881
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_000546.6(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_000546.6(TP53):c.848G>C (p.Arg283Pro) rs371409680
NM_000546.6(TP53):c.856G>C (p.Glu286Gln) rs786201059
NM_000548.5(TSC2):c.-30+1G>C rs587778004
NM_000548.5(TSC2):c.1001T>C (p.Val334Ala) rs45484892
NM_000548.5(TSC2):c.1229T>G (p.Leu410Arg) rs137854298
NM_000548.5(TSC2):c.1257+5G>A rs2151157428
NM_000548.5(TSC2):c.1343T>C (p.Leu448Pro) rs397515206
NM_000548.5(TSC2):c.1362-10C>A rs45446697
NM_000548.5(TSC2):c.1778A>G (p.His593Arg) rs45517198
NM_000548.5(TSC2):c.1835T>C (p.Leu612Pro) rs1567458244
NM_000548.5(TSC2):c.1865G>C (p.Arg622Pro) rs45517206
NM_000548.5(TSC2):c.2113G>A (p.Val705Met) rs397515241
NM_000548.5(TSC2):c.2117T>C (p.Leu706Pro)
NM_000548.5(TSC2):c.225+2T>C rs397515105
NM_000548.5(TSC2):c.2339T>C (p.Leu780Pro) rs2151328709
NM_000548.5(TSC2):c.2355G>A (p.Gln785=) rs2088708544
NM_000548.5(TSC2):c.2356-4_2356-3delinsAG
NM_000548.5(TSC2):c.2447C>T (p.Pro816Leu) rs45517236
NM_000548.5(TSC2):c.2774A>G (p.Asp925Gly) rs1555508942
NM_000548.5(TSC2):c.2870dup (p.Leu957fs) rs1567490680
NM_000548.5(TSC2):c.4628A>G (p.His1543Arg) rs2090628516
NM_000548.5(TSC2):c.5068G>A (p.Asp1690Asn) rs137854882
NM_000548.5(TSC2):c.5156C>A (p.Ala1719Glu)
NM_000548.5(TSC2):c.5254C>T (p.Gln1752Ter) rs45517414
NM_000548.5(TSC2):c.5417_5418del (p.Phe1806fs)
NM_000548.5(TSC2):c.884C>A (p.Ala295Asp) rs1596288578
NM_000548.5(TSC2):c.910T>C (p.Trp304Arg) rs397515108
NM_000550.3(TYRP1):c.1298G>A (p.Gly433Glu)
NM_000550.3(TYRP1):c.643C>T (p.His215Tyr)
NM_000550.3(TYRP1):c.919G>A (p.Glu307Lys)
NM_000551.4(VHL):c.1A>G (p.Met1Val) rs1060503557
NM_000551.4(VHL):c.224TCT[1] (p.Phe76del) rs5030648
NM_000551.4(VHL):c.250G>A (p.Val84Met) rs5030827
NM_000551.4(VHL):c.311G>T (p.Gly104Val) rs869025630
NM_000551.4(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.4(VHL):c.335A>G (p.Tyr112Cys) rs869025633
NM_000551.4(VHL):c.463G>A (p.Val155Met) rs869025659
NM_000551.4(VHL):c.558_560del (p.Glu186del) rs1559429813
NM_000551.4(VHL):c.574C>T (p.Pro192Ser) rs28940300
NM_000551.4(VHL):c.593T>C (p.Leu198Pro) rs869025667
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr) rs267607324
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.4094T>C (p.Leu1365Pro)
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4571T>G (p.Val1524Gly) rs2136412301
NM_000552.5(VWF):c.5312-2_5312-1del
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8155+6T>C rs1223422347
NM_000553.6(WRN):c.1350+1G>T rs752202315
NM_000553.6(WRN):c.1898+2T>G rs772319506
NM_000553.6(WRN):c.1982-2A>G rs1563351045
NM_000553.6(WRN):c.3819+1G>C rs748618811
NM_000553.6(WRN):c.724G>C (p.Glu242Gln) rs769959338
NM_000554.6(CRX):c.124G>A (p.Glu42Lys) rs863224863
NM_000557.5(GDF5):c.1420A>T (p.Ile474Phe)
NM_000558.3(HBA1):c.287C>T (p.Pro96Leu) rs33931314
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000593.6(TAP1):c.1937G>A (p.Gly646Asp) rs765527607
NM_000612.6(IGF2):c.145G>A (p.Gly49Ser)
NM_000618.5(IGF1):c.274G>A (p.Val92Met) rs121912430
NM_000637.5(GSR):c.94G>T (p.Glu32Ter)
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.4259+5G>A rs780504025
NM_000642.3(AGL):c.655A>G (p.Asn219Asp)
NM_000642.3(AGL):c.664+1G>A rs61811105
NM_000642.3(AGL):c.772T>C (p.Ser258Pro) rs886039873
NM_000682.7(ADRA2B):c.664C>T (p.Arg222Ter) rs786205528
NM_000701.8(ATP1A1):c.2707G>A (p.Gly903Arg) rs983463553
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser) rs1570987954
NM_000709.4(BCKDHA):c.1280_1282del (p.Leu427_Ala428delinsPro) rs755691417
NM_000709.4(BCKDHA):c.347A>G (p.Asp116Gly) rs398123498
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val) rs887411374
NM_000709.4(BCKDHA):c.761C>A (p.Ala254Asp) rs373713279
NM_000709.4(BCKDHA):c.792C>G (p.Cys264Trp) rs137852876
NM_000709.4(BCKDHA):c.800A>G (p.Asn267Ser)
NM_000709.4(BCKDHA):c.859C>G (p.Arg287Gly) rs764247545
NM_000718.4(CACNA1B):c.5536+1G>A
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.2234T>C (p.Leu745Pro) rs398123518
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) rs2061710859
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000719.7(CACNA1C):c.3631A>G (p.Lys1211Glu) rs786205759
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys)
NM_000719.7(CACNA1C):c.583T>C (p.Trp195Arg) rs2154562876
NM_000751.3(CHRND):c.932+5G>A rs797045474
NM_000782.5(CYP24A1):c.304G>C (p.Gly102Arg)
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg) rs1470602732
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys) rs587778781
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His) rs199638075
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His) rs144701596
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter) rs374507635
NM_000784.4(CYP27A1):c.255G>A (p.Gln85=)
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del) rs983649759
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
NM_000814.6(GABRB3):c.239T>C (p.Met80Thr) rs1064794797
NM_000814.6(GABRB3):c.862A>G (p.Thr288Ala) rs1595440443
NM_000814.6(GABRB3):c.916A>G (p.Ile306Val) rs1889965563
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg) rs1565478152
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile) rs1057519004
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000834.5(GRIN2B):c.1946A>G (p.Asn649Ser) rs879253945
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg) rs1565455878
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
NM_000875.5(IGF1R):c.1732G>A (p.Ala578Thr) rs2015098252
NM_000875.5(IGF1R):c.3530G>A (p.Arg1177His) rs1596476159
NM_000875.5(IGF1R):c.3595G>A (p.Gly1199Arg) rs886044448
NM_000875.5(IGF1R):c.824G>A (p.Arg275His) rs1250642880
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu) rs1562989913
NM_000884.3(IMPDH2):c.593A>G (p.Asn198Ser)
NM_000900.5(MGP):c.56G>A (p.Cys19Tyr) rs1555094473
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp) rs1329988533
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg) rs1388837601
NM_000944.5(PPP3CA):c.700G>C (p.Asp234His) rs2110249848
NM_000969.5(RPL5):c.3+5G>C
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
NM_000977.4(RPL13):c.548G>A (p.Arg183His) rs1597676540
NM_000996.4(RPL35A):c.79CTT[1] (p.Leu28del) rs116840807
NM_001001331.4(ATP2B2):c.2765C>T (p.Ser922Leu) rs1057520233
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs) rs757570230
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.660_669del (p.Asn220fs) rs778808650
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_001002010.5(NT5C3A):c.895-2A>G rs1583884979
NM_001002295.2(GATA3):c.790T>C (p.Cys264Arg) rs767074039
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs) rs762904815
NM_001003800.2(BICD2):c.2042C>T (p.Ser681Leu) rs1853375829
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys) rs797045412
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys) rs1587667544
NM_001003841.3(SLC6A19):c.1296_1297del (p.Met432fs) rs762942358
NM_001003841.3(SLC6A19):c.982C>T (p.Arg328Cys)
NM_001004127.3(ALG11):c.983AGA[1] (p.Lys329del) rs1064794465
NM_001004334.4(GPR179):c.2427dup (p.Pro810fs) rs757246221
NM_001004334.4(GPR179):c.3138_3139del (p.Glu1046fs) rs776189685
NM_001005242.3(PKP2):c.1079T>C (p.Leu360Pro) rs730880180
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1271T>C (p.Phe424Ser) rs397516990
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.1709T>C (p.Leu570Pro)
NM_001005242.3(PKP2):c.2261_2269del (p.Thr754_Asn756del) rs1270283587
NM_001005242.3(PKP2):c.2357+5G>A rs1555141020
NM_001005273.3(CHD3):c.2656C>T (p.His886Tyr) rs2151569587
NM_001005273.3(CHD3):c.3559C>T (p.Arg1187Cys) rs2151603656
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro) rs1567861571
NM_001005337.3(PKP1):c.1199C>T (p.Pro400Leu) rs483352688
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys) rs2072577342
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys) rs879254086
NM_001005373.4(LRSAM1):c.175-2A>T rs1035054313
NM_001005373.4(LRSAM1):c.2033G>A (p.Cys678Tyr)
NM_001005373.4(LRSAM1):c.448C>T (p.Arg150Ter)
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys) rs193920894
NM_001008537.3(NEXMIF):c.864AGA[1] (p.Glu289del)
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10822-2A>G rs2151707926
NM_001009944.3(PKD1):c.10850T>C (p.Leu3617Pro) rs1567158067
NM_001009944.3(PKD1):c.10958C>T (p.Ala3653Val) rs1483214870
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11411+1G>T
NM_001009944.3(PKD1):c.1141G>A (p.Gly381Ser) rs1303102528
NM_001009944.3(PKD1):c.11453G>A (p.Gly3818Asp) rs1555445740
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro) rs2092665731
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.12003+14_12003+33del rs1567148835
NM_001009944.3(PKD1):c.1202-9G>A rs1596588606
NM_001009944.3(PKD1):c.12391_12393del (p.Glu4131del) rs1555444468
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys) rs1567216536
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val) rs1060499699
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1522T>C (p.Cys508Arg) rs58598099
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
NM_001009944.3(PKD1):c.2180T>A (p.Leu727Gln) rs1616940
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2180T>G (p.Leu727Arg) rs1616940
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser) rs2151792963
NM_001009944.3(PKD1):c.5515T>C (p.Trp1839Arg)
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys) rs1247882278
NM_001009944.3(PKD1):c.6571C>T (p.Arg2191Cys)
NM_001009944.3(PKD1):c.6656C>T (p.Pro2219Leu) rs1567191874
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6827T>C (p.Leu2276Pro) rs1567191044
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7483T>A (p.Cys2495Ser) rs2092338268
NM_001009944.3(PKD1):c.7567GAG[1] (p.Glu2524del) rs1555452876
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8302G>T (p.Val2768Leu) rs1456510041
NM_001009944.3(PKD1):c.8447T>C (p.Leu2816Pro) rs1567177684
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009996.3(DALRD3):c.1251C>A (p.Tyr417Ter) rs1163930676
NM_001011658.4(TRAPPC2):c.239-10_239-7del rs2146773091
NM_001012339.3(DNAJC21):c.434A>G (p.Asp145Gly)
NM_001014447.3(CPZ):c.1321G>T (p.Gly441Trp) rs775707132
NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del) rs1556019105
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr) rs199476312
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018115.3(FANCD2):c.3713T>A (p.Met1238Lys)
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
NM_001024630.4(RUNX2):c.436G>A (p.Gly146Arg)
NM_001024630.4(RUNX2):c.506G>A (p.Arg169Gln) rs104893995
NM_001025356.3(ANO6):c.2339_2342del (p.Leu780fs)
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
NM_001029883.3(PCARE):c.707T>G (p.Ile236Ser) rs1396413765
NM_001029883.3(PCARE):c.728T>C (p.Leu243Pro) rs2148416787
NM_001029896.2(WDR45):c.436G>A (p.Gly146Arg) rs1569523500
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001031710.3(KLHL7):c.422T>C (p.Val141Ala) rs1554286384
NM_001032221.6(STXBP1):c.1168A>G (p.Ile390Val) rs1554778420
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del) rs796053381
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_001032382.2(PQBP1):c.181G>A (p.Gly61Arg) rs2147471872
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)
NM_001033044.4(GLUL):c.-13-2A>G rs2101936731
NM_001033044.4(GLUL):c.3G>A (p.Met1Ile) rs2101936697
NM_001033855.3(DCLRE1C):c.406G>A (p.Asp136Asn) rs1839765652
NM_001033855.3(DCLRE1C):c.82G>C (p.Ala28Pro)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001034853.2(RPGR):c.1754-2dup rs2067203496
NM_001034853.2(RPGR):c.247+5G>A rs2067974156
NM_001034853.2(RPGR):c.2586_2587del (p.Glu863fs) rs2067170858
NM_001034853.2(RPGR):c.299T>C (p.Leu100Pro) rs1064797366
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly) rs62638643
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.12325A>G (p.Met4109Val) rs730880196
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu) rs751428303
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met) rs794728828
NM_001035.3(RYR2):c.12608C>T (p.Ala4203Val) rs794728792
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn) rs876661387
NM_001035.3(RYR2):c.14482G>A (p.Gly4828Arg) rs1402571360
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys) rs794728722
NM_001035.3(RYR2):c.6532G>A (p.Val2178Ile) rs794728821
NM_001035.3(RYR2):c.6829T>C (p.Cys2277Arg) rs794727676
NM_001035.3(RYR2):c.6899A>G (p.Asp2300Gly) rs1681104142
NM_001035.3(RYR2):c.7208C>T (p.Ala2403Val)
NM_001035.3(RYR2):c.727G>T (p.Glu243Ter)
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys) rs1553373926
NM_001037.5(SCN1B):c.108del (p.Phe36fs) rs1064794589
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001037.5(SCN1B):c.631dup (p.Cys211fs)
NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp) rs971284726
NM_001039141.3(TRIOBP):c.3854_3855del (p.Arg1285fs) rs750744696
NM_001039348.3(EFEMP1):c.163T>C (p.Cys55Arg) rs1572851186
NM_001039591.3(USP9X):c.2877G>A (p.Ser959=)
NM_001039876.3(SYNE4):c.973-2A>T
NM_001040108.2(MLH3):c.3154del (p.Leu1052fs) rs745657036
NM_001040113.2(MYH11):c.5819del (p.Pro1940fs) rs747392139
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile) rs1699477928
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp) rs796053121
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr) rs1057518373
NM_001040142.2(SCN2A):c.2939C>G (p.Ala980Gly) rs1700069190
NM_001040142.2(SCN2A):c.3643G>T (p.Val1215Phe) rs1064795832
NM_001040142.2(SCN2A):c.4534C>T (p.Pro1512Ser) rs1558879940
NM_001040142.2(SCN2A):c.5485C>T (p.Leu1829Phe) rs1553463676
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr) rs2105403536
NM_001040142.2(SCN2A):c.622G>A (p.Val208Met) rs1064796373
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) rs796052029
NM_001040716.2(PC):c.1825+1G>A rs1565214970
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp) rs1591122325
NM_001040716.2(PC):c.2278C>T (p.Arg760Trp) rs563526275
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp) rs1555015018
NM_001040716.2(PC):c.584C>T (p.Ala195Val) rs1436643226
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer) rs776569472
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu) rs386833733
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2(CLN3):c.868G>T (p.Val290Leu) rs369008702
NM_001042492.3(NF1):c.-272G>A rs1911510393
NM_001042492.3(NF1):c.1062+2dup rs2066510417
NM_001042492.3(NF1):c.1062+3A>G rs1057521098
NM_001042492.3(NF1):c.1062+3A>T
NM_001042492.3(NF1):c.1235A>G (p.Asn412Ser) rs1567836090
NM_001042492.3(NF1):c.1405A>G (p.Lys469Glu) rs1555612271
NM_001042492.3(NF1):c.1527+2dup rs1597698533
NM_001042492.3(NF1):c.1649T>C (p.Leu550Pro) rs886052798
NM_001042492.3(NF1):c.2117C>T (p.Ala706Val) rs2151425819
NM_001042492.3(NF1):c.2325+3A>T
NM_001042492.3(NF1):c.2326-3T>G rs876658946
NM_001042492.3(NF1):c.2329T>C (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2410-13A>G rs1567848711
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val) rs1555614212
NM_001042492.3(NF1):c.269T>G (p.Leu90Arg) rs1555605393
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser) rs1135402831
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg) rs1597629884
NM_001042492.3(NF1):c.2894T>A (p.Ile965Lys) rs1555614438
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro) rs1597716348
NM_001042492.3(NF1):c.2T>A (p.Met1Lys) rs886041346
NM_001042492.3(NF1):c.3104T>C (p.Met1035Thr) rs137854553
NM_001042492.3(NF1):c.3118A>G (p.Lys1040Glu) rs1555614619
NM_001042492.3(NF1):c.3437T>A (p.Val1146Asp) rs2067137147
NM_001042492.3(NF1):c.3460A>G (p.Asn1154Asp) rs2067137878
NM_001042492.3(NF1):c.3545T>C (p.Val1182Ala) rs2067142076
NM_001042492.3(NF1):c.3545T>G (p.Val1182Gly)
NM_001042492.3(NF1):c.3589G>A (p.Ala1197Thr) rs2151435523
NM_001042492.3(NF1):c.3590C>T (p.Ala1197Val) rs370820478
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg) rs1555615047
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.3875A>G (p.Tyr1292Cys) rs1060500243
NM_001042492.3(NF1):c.3974+260T>G rs1567853044
NM_001042492.3(NF1):c.4099T>C (p.Cys1367Arg) rs2151451647
NM_001042492.3(NF1):c.4226T>G (p.Met1409Arg) rs1555618508
NM_001042492.3(NF1):c.4243A>C (p.Asn1415His) rs1555618518
NM_001042492.3(NF1):c.4348G>T (p.Ala1450Ser)
NM_001042492.3(NF1):c.4382T>G (p.Met1461Arg) rs754639587
NM_001042492.3(NF1):c.4786G>C (p.Ala1596Pro) rs2151470213
NM_001042492.3(NF1):c.479+5G>T rs1567818033
NM_001042492.3(NF1):c.4819TAT[1] (p.Tyr1608del)
NM_001042492.3(NF1):c.4832G>A (p.Arg1611Gln) rs876659197
NM_001042492.3(NF1):c.4886T>C (p.Leu1629Pro) rs1555533288
NM_001042492.3(NF1):c.5033A>C (p.Tyr1678Ser) rs1555533347
NM_001042492.3(NF1):c.5285T>A (p.Val1762Asp) rs1555533550
NM_001042492.3(NF1):c.5491T>G (p.Trp1831Gly) rs2069382435
NM_001042492.3(NF1):c.5498T>C (p.Leu1833Pro) rs2151541565
NM_001042492.3(NF1):c.5548G>T (p.Val1850Phe) rs1597832397
NM_001042492.3(NF1):c.556G>T (p.Asp186Tyr) rs1567820765
NM_001042492.3(NF1):c.5609+5del
NM_001042492.3(NF1):c.5625TCT[1] (p.Leu1877del) rs1131691081
NM_001042492.3(NF1):c.5651T>G (p.Phe1884Cys)
NM_001042492.3(NF1):c.5711A>G (p.Asn1904Ser) rs864622647
NM_001042492.3(NF1):c.5787G>T (p.Glu1929Asp) rs786202591
NM_001042492.3(NF1):c.5836T>A (p.Leu1946Met) rs1422333640
NM_001042492.3(NF1):c.5867T>G (p.Leu1956Arg) rs1597840087
NM_001042492.3(NF1):c.590C>G (p.Thr197Arg) rs1597658021
NM_001042492.3(NF1):c.5924T>C (p.Leu1975Pro) rs1555534411
NM_001042492.3(NF1):c.5933T>G (p.Leu1978Arg) rs2069606635
NM_001042492.3(NF1):c.6118T>C (p.Ser2040Pro) rs1567616704
NM_001042492.3(NF1):c.6119C>T (p.Ser2040Phe) rs2069671270
NM_001042492.3(NF1):c.6147G>A (p.Lys2049=)
NM_001042492.3(NF1):c.6147G>C (p.Lys2049Asn) rs1135402882
NM_001042492.3(NF1):c.6148-16T>G rs769223408
NM_001042492.3(NF1):c.6374T>C (p.Leu2125Pro) rs1597843129
NM_001042492.3(NF1):c.647T>C (p.Leu216Pro) rs199474756
NM_001042492.3(NF1):c.6642+18A>G rs1555534893
NM_001042492.3(NF1):c.6705-17G>A rs1064795966
NM_001042492.3(NF1):c.6819G>T (p.Lys2273Asn) rs1060500373
NM_001042492.3(NF1):c.6820-3A>G
NM_001042492.3(NF1):c.6893T>C (p.Leu2298Pro) rs1597846070
NM_001042492.3(NF1):c.7010T>G (p.Leu2337Arg) rs1555535179
NM_001042492.3(NF1):c.7317AGC[1] (p.Ala2441del) rs1085307506
NM_001042492.3(NF1):c.7970+4_7970+7del rs1064794279
NM_001042492.3(NF1):c.888+789A>G rs1597660974
NM_001042492.3(NF1):c.958G>C (p.Ala320Pro) rs2066507272
NM_001042492.3(NF1):c.99A>G (p.Lys33=) rs786203280
NM_001042603.3(KDM5A):c.1726C>T (p.Gln576Ter) rs773333271
NM_001042681.2(RERE):c.1681_1684del (p.Glu561fs) rs1641706044
NM_001042681.2(RERE):c.3436C>T (p.Arg1146Trp) rs1178020687
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767
NM_001042750.2(STAG2):c.2860C>T (p.Arg954Cys) rs1603150613
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169
NM_001046.3(SLC12A2):c.757-2A>G
NM_001048174.2(MUTYH):c.1258C>G (p.His420Asp) rs786202133
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter) rs932830392
NM_001048174.2(MUTYH):c.1434+4A>G rs876658323
NM_001048174.2(MUTYH):c.1435-2A>G rs1553123105
NM_001048174.2(MUTYH):c.1466_1467delinsAG (p.Cys489Ter) rs587782716
NM_001048174.2(MUTYH):c.1537del (p.Ala513fs) rs1644350830
NM_001048174.2(MUTYH):c.299A>G (p.Tyr100Cys) rs876660615
NM_001048174.2(MUTYH):c.317A>T (p.Glu106Val) rs864622450
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=) rs876658641
NM_001048174.2(MUTYH):c.613G>C (p.Gly205Arg) rs377639760
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser) rs1057517765
NM_001048174.2(MUTYH):c.704G>C (p.Trp235Ser) rs1570406302
NM_001048174.2(MUTYH):c.764T>C (p.Met255Thr) rs1060501327
NM_001048174.2(MUTYH):c.834C>G (p.Cys278Trp) rs730881834
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His) rs1057521250
NM_001069.3(TUBB2A):c.5G>A (p.Arg2His) rs1581499166
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu) rs1554122947
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro) rs863224939
NM_001077197.2(PDE11A):c.20_21del (p.Arg7fs) rs202117698
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro) rs1899872500
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu) rs1898841618
NM_001077365.2(POMT1):c.2097C>A (p.Tyr699Ter) rs138902646
NM_001077365.2(POMT1):c.977A>G (p.Tyr326Cys) rs377372480
NM_001077620.3(PRCD):c.2T>C (p.Met1Thr) rs527236092
NM_001077620.3(PRCD):c.74C>T (p.Pro25Leu) rs757471313
NM_001079.4(ZAP70):c.1748G>A (p.Arg583His) rs1017182331
NM_001079668.3(NKX2-1):c.606G>C (p.Gln202His) rs762575015
NM_001079668.3(NKX2-1):c.872C>T (p.Pro291Leu) rs1057519223
NM_001079802.2(FKTN):c.1215_1226del (p.Asp406_Val409del) rs1554766855
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.748T>C (p.Cys250Arg) rs398123558
NM_001079802.2(FKTN):c.919C>G (p.Arg307Gly) rs267606814
NM_001079866.2(BCS1L):c.-49-539T>A rs386833855
NM_001079866.2(BCS1L):c.295C>T (p.Pro99Ser)
NM_001079866.2(BCS1L):c.399del (p.Glu133fs) rs751484879
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) rs368486097
NM_001079872.2(CUL4B):c.360CTC[3] (p.Ser126_Ser128del) rs754330779
NM_001080.3(ALDH5A1):c.1015-3C>G rs2127387935
NM_001080.3(ALDH5A1):c.1267A>G (p.Thr423Ala)
NM_001080.3(ALDH5A1):c.1498G>C (p.Val500Leu) rs999671766
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs) rs768077989
NM_001080449.3(DNA2):c.2335dup (p.Ser779fs)
NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly) rs751031650
NM_001080467.3(MYO5B):c.1829C>A (p.Ser610Ter) rs753160864
NM_001080467.3(MYO5B):c.4765G>T (p.Glu1589Ter) rs762039116
NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del) rs773937309
NM_001080512.3(BICC1):c.1204C>T (p.Arg402Ter)
NM_001080517.3(SETD5):c.1042C>T (p.Arg348Trp) rs1553621798
NM_001080517.3(SETD5):c.1043G>A (p.Arg348Gln) rs2125194268
NM_001080517.3(SETD5):c.1782+1G>T
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr) rs147617753
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
NM_001082971.2(DDC):c.139C>G (p.Pro47Ala)
NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly) rs142012387
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del) rs764610550
NM_001083962.2(TCF4):c.1741G>T (p.Val581Phe) rs587784460
NM_001083962.2(TCF4):c.1744C>T (p.Arg582Cys) rs2047109965
NM_001083962.2(TCF4):c.1774G>A (p.Gly592Ser) rs751190049
NM_001089.3(ABCA3):c.1112-20G>A
NM_001089.3(ABCA3):c.3208G>A (p.Ala1070Thr)
NM_001089.3(ABCA3):c.3241C>T (p.Arg1081Trp) rs369277188
NM_001089.3(ABCA3):c.3563A>G (p.Tyr1188Cys)
NM_001098.3(ACO2):c.1802G>A (p.Gly601Asp) rs863223881
NM_001098.3(ACO2):c.2011C>T (p.Arg671Trp) rs377518755
NM_001098.3(ACO2):c.2145CAA[1] (p.Asn716del) rs2066638829
NM_001098671.2(RASGRP2):c.542T>C (p.Phe181Ser) rs1060499609
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter) rs1060499576
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val) rs2148407095
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.809-10C>A rs1659945481
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100913.3(PACS2):c.623C>T (p.Ser208Phe) rs2141147698
NM_001101.5(ACTB):c.1066T>C (p.Trp356Arg) rs2128241170
NM_001101.5(ACTB):c.124G>A (p.Gly42Ser) rs1562719872
NM_001101.5(ACTB):c.454G>A (p.Val152Met) rs2128241296
NM_001102564.3(IFT43):c.8A>G (p.Asp3Gly) rs144776609
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val) rs1554033934
NM_001104631.2(PDE4D):c.665T>C (p.Ile222Thr)
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) rs1559655653
NM_001109878.2(TBX22):c.359G>A (p.Arg120Gln)
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110556.2(FLNA):c.134A>G (p.Gln45Arg) rs398123613
NM_001110556.2(FLNA):c.1864G>A (p.Glu622Lys) rs1131691935
NM_001110556.2(FLNA):c.1923C>T (p.Gly641=) rs80338841
NM_001110556.2(FLNA):c.2137-2A>G rs1064796297
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp) rs137853317
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala) rs61751449
NM_001110792.2(MECP2):c.1042C>G (p.Leu348Val) rs587783104
NM_001110792.2(MECP2):c.1079_1209delinsTG (p.Glu360_Pro403delinsVal) rs1557135603
NM_001110792.2(MECP2):c.1240_1241insT (p.Pro414fs) rs2148659573
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys) rs267608642
NM_001110792.2(MECP2):c.1A>G (p.Met1Val) rs587783132
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu) rs587783132
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr) rs2066907057
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr) rs61754448
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser) rs61754452
NM_001110792.2(MECP2):c.352C>G (p.Arg118Gly) rs28934907
NM_001110792.2(MECP2):c.359T>A (p.Leu120His) rs61754458
NM_001110792.2(MECP2):c.367A>G (p.Arg123Gly) rs61754459
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys) rs267608388
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro) rs61748383
NM_001110792.2(MECP2):c.422G>T (p.Gly141Val) rs61748384
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp) rs267608470
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly) rs28934904
NM_001110792.2(MECP2):c.436T>C (p.Ser146Pro) rs267608471
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly) rs61748403
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg) rs61748404
NM_001110792.2(MECP2):c.499T>A (p.Phe167Ile) rs61748406
NM_001110792.2(MECP2):c.500T>G (p.Phe167Cys) rs28934905
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala) rs61748407
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly) rs61748407
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile) rs61748410
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp) rs61748416
NM_001110792.2(MECP2):c.518G>A (p.Gly173Glu) rs61748417
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val) rs61748417
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr) rs61748427
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val) rs1557136251
NM_001110792.2(MECP2):c.940C>A (p.Pro314Thr) rs61751373
NM_001110792.2(MECP2):c.940C>T (p.Pro314Ser) rs61751373
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu) rs61749723
NM_001110792.2(MECP2):c.945C>G (p.Ile315Met) rs61751439
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu) rs61751440
NM_001110792.2(MECP2):c.949A>G (p.Lys317Glu) rs267608551
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg) rs61751441
NM_001110792.2(MECP2):c.959C>T (p.Thr320Ile)
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=) rs1602260263
NM_001111125.3(IQSEC2):c.3463C>T (p.Arg1155Trp) rs2074117985
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter) rs1849236683
NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser) rs2131885751
NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro) rs1564453623
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser) rs1830433526
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) rs1830431553
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_001114753.3(ENG):c.569T>A (p.Met190Lys) rs1830602163
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu) rs1830597676
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001122630.2(CDKN1C):c.100G>A (p.Glu34Lys) rs1848977184
NM_001122659.3(EDNRB):c.350_361del (p.Ile117_Ser120del)
NM_001126108.2(SLC12A3):c.1001G>A (p.Arg334Gln)
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
NM_001126108.2(SLC12A3):c.1519C>T (p.Arg507Cys)
NM_001126108.2(SLC12A3):c.2191G>T (p.Gly731Trp)
NM_001126108.2(SLC12A3):c.404G>A (p.Arg135His) rs769047841
NM_001126108.2(SLC12A3):c.533C>G (p.Ser178Trp)
NM_001126108.2(SLC12A3):c.671C>A (p.Ala224Asp) rs1437937060
NM_001126128.2(PROK2):c.223-2A>G rs991290069
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu) rs757141700
NM_001127178.3(PIGG):c.641A>G (p.His214Arg)
NM_001127222.2(CACNA1A):c.1039G>A (p.Gly347Ser) rs977960069
NM_001127222.2(CACNA1A):c.2026G>A (p.Gly676Arg) rs2144980758
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.3946G>A (p.Asp1316Asn) rs1568485068
NM_001127222.2(CACNA1A):c.4250G>A (p.Arg1417Gln) rs1568471977
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr) rs1555736565
NM_001127222.2(CACNA1A):c.5702G>A (p.Arg1901His) rs2144595024
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln) rs797045424
NM_001127222.2(CACNA1A):c.631+5G>A rs786200963
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg) rs1057522420
NM_001127453.2(GSDME):c.1183+5G>A rs777359423
NM_001127453.2(GSDME):c.212-1G>A rs1790597003
NM_001127644.2(GABRA1):c.1020A>C (p.Arg340Ser) rs1561587910
NM_001127644.2(GABRA1):c.439C>G (p.Arg147Gly)
NM_001127644.2(GABRA1):c.610C>T (p.Arg204Cys)
NM_001127644.2(GABRA1):c.640C>A (p.Arg214Ser) rs727503940
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys) rs727503940
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile) rs796052492
NM_001127644.2(GABRA1):c.851T>C (p.Val284Ala) rs794727962
NM_001127644.2(GABRA1):c.859G>A (p.Val287Ile) rs796052493
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile) rs796052496
NM_001127644.2(GABRA1):c.923C>A (p.Ala308Asp) rs1554087620
NM_001127644.2(GABRA1):c.932C>T (p.Thr311Ile) rs1581220210
NM_001127644.2(GABRA1):c.940G>A (p.Asp314Asn) rs1064795283
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro) rs61752132
NM_001127649.3(PEX26):c.228C>T (p.Gly76=) rs786205556
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg) rs61752135
NM_001128148.3(TFRC):c.58T>C (p.Tyr20His) rs863225436
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter) rs794727279
NM_001128425.2(MUTYH):c.196G>A (p.Ala66Thr) rs1064793421
NM_001128425.2(MUTYH):c.36+2T>C
NM_001128636.4(ELFN1):c.42_49del (p.Ala15fs) rs2128605586
NM_001129820.2(SLFN14):c.652A>G (p.Lys218Glu) rs869320716
NM_001130004.2(ACTN1):c.1019C>T (p.Thr340Met) rs1594771155
NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met) rs372031019
NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp) rs387907349
NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys) rs1594751659
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln) rs1567871600
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup) rs2135114515
NM_001130438.3(SPTAN1):c.1456C>G (p.Gln486Glu) rs1455085342
NM_001130438.3(SPTAN1):c.3292C>T (p.Arg1098Cys) rs1853920585
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001130823.3(DNMT1):c.1706A>G (p.His569Arg) rs1599366076
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg) rs766891289
NM_001130987.2(DYSF):c.1615T>C (p.Cys539Arg) rs1573929182
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal) rs1446214240
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly) rs886042878
NM_001130987.2(DYSF):c.2697+5G>A rs2092213253
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys) rs727503910
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys) rs1553412643
NM_001130987.2(DYSF):c.6259ATCCTCTTCATC[3] (p.2087ILFI[3]) rs749619435
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu) rs398123807
NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr) rs794729145
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr) rs1114167331
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.2802del (p.Ile935fs) rs2135121046
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs) rs760334885
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser) rs757713617
NM_001134407.3(GRIN2A):c.1990G>A (p.Gly664Ser)
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln) rs753203288
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly) rs1057518070
NM_001134407.3(GRIN2A):c.2147C>A (p.Ala716Asp) rs1057519552
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr) rs796052550
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr) rs1555483699
NM_001134665.3(TRMT10A):c.723dup (p.Ser242Ter)
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001135651.3(EIF2AK2):c.1382C>G (p.Ser461Cys) rs1572996700
NM_001135651.3(EIF2AK2):c.325G>T (p.Ala109Ser) rs1675334390
NM_001136472.2(LITAF):c.331G>A (p.Ala111Thr) rs1324125372
NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del) rs749617913
NM_001139.3(ALOX12B):c.46_48del (p.Ser16del) rs886053573
NM_001139.3(ALOX12B):c.769C>G (p.His257Asp) rs1233776328
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn) rs1977170764
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001139.3(ALOX12B):c.944T>C (p.Leu315Pro) rs1977160529
NM_001142800.2(EYS):c.1185-6T>G rs565046666
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.2000G>A (p.Arg667His) rs549456693
NM_001142800.2(EYS):c.2023+5G>T rs1287889008
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs) rs1554163919
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs) rs886044149
NM_001142864.4(PIEZO1):c.6328C>T (p.Arg2110Trp)
NM_001144061.2(COPB1):c.-57-2A>G
NM_001145308.5(LRTOMT):c.327C>T (p.Cys109=) rs774544844
NM_001145358.2(SIN3A):c.3179A>G (p.Asp1060Gly) rs2141396034
NM_001148.6(ANK2):c.11859+2T>G
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys) rs1556639109
NM_001159699.2(FHL1):c.509A>C (p.His170Pro) rs1484795726
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro) rs2132705299
NM_001161352.2(KCNMA1):c.1987A>G (p.Ile663Val) rs2092522027
NM_001161352.2(KCNMA1):c.2572C>T (p.Arg858Trp) rs199681253
NM_001161352.2(KCNMA1):c.2593C>T (p.Arg865Cys) rs1591664697
NM_001161352.2(KCNMA1):c.2890G>A (p.Ala964Thr)
NM_001163435.3(TBCK):c.1740CTT[2] (p.Phe582del) rs909658169
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter) rs1740799305
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?) rs1592107594
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup) rs786204477
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del) rs1432360280
NM_001164508.2(NEB):c.1569+1G>A rs1553605553
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.2211+5G>A rs797045736
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.23929-2A>C rs1553569122
NM_001164508.2(NEB):c.3127_3129dup (p.Asn1043dup) rs1288870299
NM_001164508.2(NEB):c.5031+1G>A rs1553495140
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys) rs76344857
NM_001165963.4(SCN1A):c.1091G>T (p.Ser364Ile) rs752775574
NM_001165963.4(SCN1A):c.1204T>C (p.Phe402Leu) rs796053094
NM_001165963.4(SCN1A):c.1377G>A (p.Gln459=) rs1697877323
NM_001165963.4(SCN1A):c.2360T>C (p.Met787Thr) rs773695263
NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) rs121918785
NM_001165963.4(SCN1A):c.2839G>A (p.Val947Met) rs796052986
NM_001165963.4(SCN1A):c.2941C>A (p.Leu981Ile) rs1057518112
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
NM_001165963.4(SCN1A):c.3632G>A (p.Cys1211Tyr) rs1574060743
NM_001165963.4(SCN1A):c.3698G>A (p.Gly1233Asp) rs1553532470
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro) rs398123592
NM_001165963.4(SCN1A):c.383+5C>A rs1060502185
NM_001165963.4(SCN1A):c.3879+5G>A rs796052999
NM_001165963.4(SCN1A):c.3879+5G>T rs796052999
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro) rs1553525337
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe) rs1690574155
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn) rs1573991676
NM_001165963.4(SCN1A):c.4338+5G>A rs796053011
NM_001165963.4(SCN1A):c.4339-12C>A rs776548109
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln) rs796053090
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro) rs1689684958
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His) rs575368466
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
NM_001165963.4(SCN1A):c.5081A>G (p.Tyr1694Cys) rs121918777
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn) rs796053035
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser) rs797045940
NM_001165963.4(SCN1A):c.5563C>T (p.Pro1855Ser) rs794727415
NM_001165963.4(SCN1A):c.5962C>T (p.Arg1988Trp) rs756519197
NM_001165963.4(SCN1A):c.672G>C (p.Leu224Phe)
NM_001165963.4(SCN1A):c.748G>A (p.Val250Ile) rs796052962
NM_001167.4(XIAP):c.1301-1G>A
NM_001167.4(XIAP):c.562G>A (p.Gly188Arg) rs1602544454
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001171.6(ABCC6):c.2293C>G (p.Arg765Gly) rs776513864
NM_001173464.2(KIF21A):c.1991T>C (p.Leu664Pro) rs1555167299
NM_001174089.2(SLC4A11):c.1132G>C (p.Gly378Arg) rs780171125
NM_001174147.2(LMX1B):c.226T>G (p.Trp76Gly) rs1057520783
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001177316.2(SLC34A3):c.410C>T (p.Thr137Met)
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.141_142insA (p.Arg48fs) rs1296037862
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr) rs886059849
NM_001182.5(ALDH7A1):c.1551G>A (p.Met517Ile) rs1064794774
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val) rs375491094
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro) rs796052260
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro) rs1602636688
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn) rs1064794763
NM_001184880.2(PCDH19):c.1538G>T (p.Gly513Val) rs1928380918
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro) rs1928375454
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile) rs863224907
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001190274.2(FBXO11):c.1367A>T (p.Asp456Val) rs112661514
NM_001190274.2(FBXO11):c.965T>C (p.Ile322Thr)
NM_001194.4(HCN2):c.1106A>G (p.Asn369Ser) rs2144519137
NM_001194.4(HCN2):c.1432_1434del (p.Glu478del) rs2144522815
NM_001195263.2(PDZD7):c.2796_2798del (p.Arg933del) rs770336804
NM_001195263.2(PDZD7):c.490C>T (p.Arg164Trp) rs200664140
NM_001195553.2(DCX):c.263C>T (p.Thr88Met)
NM_001195553.2(DCX):c.772C>T (p.Arg258Cys) rs727503897
NM_001197104.2(KMT2A):c.2719C>T (p.Pro907Ser) rs1064797056
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg) rs574204412
NM_001202.6(BMP4):c.856C>T (p.Arg286Ter)
NM_001202.6(BMP4):c.928C>T (p.Arg310Cys) rs770777693
NM_001204.7(BMPR2):c.1133G>T (p.Gly378Val) rs1574494547
NM_001204.7(BMPR2):c.1178A>G (p.Asn393Ser) rs1574494582
NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser) rs1085307312
NM_001204.7(BMPR2):c.1217T>G (p.Met406Arg) rs1247070046
NM_001205293.3(CACNA1E):c.586C>T (p.Arg196Trp) rs1651121815
NM_001212.4(C1QBP):c.562_564del (p.Tyr188del) rs755568057
NM_001212.4(C1QBP):c.576+2T>A
NM_001220.5(CAMK2B):c.560G>A (p.Arg187His)
NM_001243226.3(TCF4):c.74del (p.Asn25fs) rs752700752
NM_001243279.3(ACSF3):c.1367-23_1396del
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.1673G>C (p.Arg558Pro) rs140328142
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln) rs775399768
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro) rs746890435
NM_001253852.3(AP4B1):c.338+5G>A rs1019204290
NM_001256071.3(RNF213):c.12185G>A (p.Arg4062Gln) rs1555676035
NM_001256071.3(RNF213):c.14566T>C (p.Cys4856Arg) rs2080231811
NM_001256317.3(TMPRSS3):c.1028G>T (p.Trp343Leu)
NM_001256317.3(TMPRSS3):c.1149G>T (p.Met383Ile) rs727503492
NM_001256317.3(TMPRSS3):c.1157C>T (p.Ala386Val)
NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys) rs565348874
NM_001256317.3(TMPRSS3):c.1304G>A (p.Arg435His)
NM_001256317.3(TMPRSS3):c.1333G>A (p.Glu445Lys)
NM_001256317.3(TMPRSS3):c.238C>T (p.Arg80Cys) rs143733205
NM_001256317.3(TMPRSS3):c.274T>C (p.Cys92Arg)
NM_001256627.2(BRSK2):c.1737dup (p.Pro580fs)
NM_001256789.3(CACNA1F):c.245G>A (p.Arg82Gln) rs2065880189
NM_001256789.3(CACNA1F):c.3020G>A (p.Gly1007Glu) rs1064794711
NM_001256789.3(CACNA1F):c.3145C>T (p.Arg1049Trp) rs2147904860
NM_001257180.2(SLC20A2):c.1784C>T (p.Thr595Met) rs387906654
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001260.3(CDK8):c.160A>G (p.Ile54Val)
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.105485G>A (p.Trp35162Ter) rs886042795
NM_001267550.2(TTN):c.106259_106271del (p.Pro35420fs)
NM_001267550.2(TTN):c.12405del (p.Asn4135fs) rs727503658
NM_001267550.2(TTN):c.12517G>T (p.Glu4173Ter) rs1131691288
NM_001267550.2(TTN):c.13525del (p.Ser4509fs) rs1553936898
NM_001267550.2(TTN):c.15691C>T (p.Gln5231Ter)
NM_001267550.2(TTN):c.15775+1G>A rs1353528319
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.30356_30359del (p.Glu10119fs) rs2154290001
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.32240G>A (p.Gly10747Asp) rs1328991757
NM_001267550.2(TTN):c.3351dup (p.Ser1118fs) rs2092847994
NM_001267550.2(TTN):c.36087_36090del (p.Ser12030fs) rs2154260181
NM_001267550.2(TTN):c.36402del (p.Val12135fs) rs1271664419
NM_001267550.2(TTN):c.3742_3745del (p.Ser1248fs) rs2154347788
NM_001267550.2(TTN):c.40508T>G (p.Leu13503Ter) rs974323028
NM_001267550.2(TTN):c.40537del (p.Glu13513fs) rs1553756349
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter) rs794729380
NM_001267550.2(TTN):c.42598_42599insG (p.Met14200fs) rs1553742630
NM_001267550.2(TTN):c.43141C>T (p.Gln14381Ter) rs754568652
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.44338del (p.Thr14780fs)
NM_001267550.2(TTN):c.46236C>A (p.Cys15412Ter) rs368200299
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.53287+1G>T rs1064794266
NM_001267550.2(TTN):c.53881+5G>T rs753527304
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.64673-2A>G rs2154180194
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.6532C>T (p.Gln2178Ter) rs1193046655
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.6820C>T (p.Gln2274Ter) rs145649088
NM_001267550.2(TTN):c.68328A>G (p.Thr22776=) rs1553619783
NM_001267550.2(TTN):c.68527+1G>T
NM_001267550.2(TTN):c.7365_7374del (p.Asn2455fs) rs794729397
NM_001267550.2(TTN):c.7642C>T (p.Gln2548Ter) rs727503688
NM_001267550.2(TTN):c.84553C>T (p.Arg28185Ter) rs397517729
NM_001267550.2(TTN):c.87716del (p.Gly29239fs) rs869312028
NM_001267550.2(TTN):c.91715dup (p.Asn30572fs) rs779129892
NM_001267550.2(TTN):c.9220C>T (p.Arg3074Ter) rs780706937
NM_001267550.2(TTN):c.95126C>G (p.Pro31709Arg) rs869320739
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.98171_98174dup (p.Ile32726fs) rs1275153634
NM_001267550.2(TTN):c.98551C>T (p.Arg32851Ter) rs553821887
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
NM_001271.4(CHD2):c.2705A>G (p.His902Arg) rs2053935622
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu) rs1555444603
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001273.5(CHD4):c.3326T>C (p.Ile1109Thr) rs2136213384
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
NM_001276345.2(TNNT2):c.286G>A (p.Asp96Asn) rs1553282768
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val) rs369181536
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001276345.2(TNNT2):c.851+5G>A rs193922620
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001277115.2(DNAH11):c.4095+2C>A rs532007878
NM_001277115.2(DNAH11):c.495+1G>T
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys) rs1554308513
NM_001278116.2(L1CAM):c.1552A>G (p.Thr518Ala)
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
NM_001278116.2(L1CAM):c.3500C>T (p.Pro1167Leu) rs2064682269
NM_001278116.2(L1CAM):c.631G>A (p.Ala211Thr) rs202000092
NM_001278716.2(FBXL4):c.1390-1G>A
NM_001278716.2(FBXL4):c.1772A>C (p.Asp591Ala) rs747618415
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys) rs1226708979
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter) rs886056775
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly) rs2122752568
NM_001282531.3(ADNP):c.3069_3072del (p.Arg1023fs) rs1279657093
NM_001283009.2(RTEL1):c.1266+3_1266+80del rs2090574236
NM_001283009.2(RTEL1):c.1993G>A (p.Glu665Lys)
NM_001283009.2(RTEL1):c.2141+5G>A rs398123050
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu) rs1470145133
NM_001283009.2(RTEL1):c.396-74A>C rs1555899773
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_001288705.3(CSF1R):c.2282A>G (p.Gln761Arg)
NM_001289125.3(IFNAR2):c.157T>C (p.Ser53Pro) rs1987287426
NM_001291415.2(KDM6A):c.3811T>C (p.Trp1271Arg) rs2045816079
NM_001292063.2(OTOG):c.5194C>T (p.Gln1732Ter)
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.1229G>T (p.Arg410Leu)
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
NM_001298.3(CNGA3):c.1520A>G (p.Asp507Gly) rs778000601
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly) rs201713771
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys) rs2149071722
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001312673.2(PCYT1A):c.990del (p.Ser331fs) rs587777193
NM_001317778.2(SFTPC):c.547T>G (p.Cys183Gly)
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His) rs1569420470
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly) rs751046231
NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg) rs1596711175
NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln) rs1596780112
NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln) rs1163583945
NM_001320752.2(STS):c.1114C>T (p.Arg372Trp) rs1064795456
NM_001320752.2(STS):c.97G>A (p.Gly33Ser) rs2147081459
NM_001321075.3(DLG4):c.1693C>T (p.His565Tyr)
NM_001321120.2(TBX4):c.292C>G (p.Pro98Ala) rs2143820895
NM_001321120.2(TBX4):c.749G>A (p.Arg250Gln) rs1555883469
NM_001322934.2(NFKB2):c.2600C>T (p.Ala867Val) rs727502788
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser) rs1925264314
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr) rs1555950468
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys) rs1922801133
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001330078.2(NRXN1):c.3365-109893dup
NM_001330078.2(NRXN1):c.3499C>T (p.Arg1167Ter) rs199546979
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer) rs1553400438
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln) rs1555226375
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser) rs2138904379
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe) rs1555229496
NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser) rs879255709
NM_001330260.2(SCN8A):c.5620G>C (p.Val1874Leu) rs781602116
NM_001330288.2(SMARCC2):c.1382+1G>A
NM_001330311.2(DVL1):c.1731del (p.Ser578fs) rs1553172962
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly) rs1601280230
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001347721.2(DYRK1A):c.764A>C (p.Lys255Thr)
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
NM_001348716.2(KDM6B):c.4737+1G>A rs2151380267
NM_001348800.3(ZBTB20):c.1873A>G (p.Met625Val) rs1064795382
NM_001348800.3(ZBTB20):c.616G>A (p.Asp206Asn) rs779190582
NM_001349338.3(FOXP1):c.1438G>A (p.Glu480Lys)
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser) rs1559602593
NM_001349338.3(FOXP1):c.511-3C>A rs778983019
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001352514.2(HLCS):c.1418G>A (p.Gly473Glu)
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352754.2(ARMC9):c.51+5G>T rs1114167447
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly) rs1559751245
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001354712.2(THRB):c.1030G>A (p.Gly344Arg)
NM_001354712.2(THRB):c.790G>T (p.Val264Phe) rs1559415493
NM_001354712.2(THRB):c.937A>G (p.Met313Val) rs1553611086
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001354712.2(THRB):c.997G>A (p.Glu333Lys) rs2148833747
NM_001355436.2(SPTB):c.1342-10G>A rs1037576854
NM_001355436.2(SPTB):c.154C>T (p.Arg52Trp) rs1594796374
NM_001355436.2(SPTB):c.155G>A (p.Arg52Gln) rs1452760098
NM_001355436.2(SPTB):c.443G>A (p.Gly148Asp) rs2082929857
NM_001355436.2(SPTB):c.5898C>T (p.Gly1966=) rs2139488882
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln) rs1555371769
NM_001356.5(DDX3X):c.1676T>A (p.Leu559His) rs1064794993
NM_001356.5(DDX3X):c.788G>A (p.Arg263His) rs867967504
NM_001356.5(DDX3X):c.864+2T>G
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del) rs1555953527
NM_001358921.2(COQ2):c.-30del rs1418018696
NM_001358921.2(COQ2):c.138dup (p.Ala47fs) rs759310292
NM_001358921.2(COQ2):c.211del (p.Leu71fs)
NM_001360.3(DHCR7):c.1022T>C (p.Leu341Pro) rs1317526744
NM_001360.3(DHCR7):c.1210C>A (p.Arg404Ser) rs61757582
NM_001360.3(DHCR7):c.1210C>G (p.Arg404Gly) rs61757582
NM_001360.3(DHCR7):c.1337G>C (p.Arg446Pro) rs751604696
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.1348del (p.Arg450fs) rs886042362
NM_001360.3(DHCR7):c.1376G>A (p.Trp459Ter) rs1555145550
NM_001360.3(DHCR7):c.1384T>C (p.Tyr462His) rs201270451
NM_001360.3(DHCR7):c.1406G>C (p.Arg469Pro) rs201150384
NM_001360.3(DHCR7):c.433A>C (p.Ile145Leu) rs1555146475
NM_001360.3(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.3(DHCR7):c.592A>G (p.Lys198Glu)
NM_001360.3(DHCR7):c.683G>A (p.Arg228Gln)
NM_001360.3(DHCR7):c.782A>G (p.Glu261Gly) rs1406131499
NM_001360.3(DHCR7):c.808A>G (p.Met270Val) rs1555146021
NM_001360.3(DHCR7):c.88G>A (p.Gly30Ser)
NM_001360.3(DHCR7):c.907G>T (p.Gly303Trp) rs142808899
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala) rs199474830
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile) rs2070404146
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr) rs1050829
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly) rs2070375134
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser) rs2148329890
NM_001363.5(DKC1):c.191T>G (p.Val64Gly) rs2071739379
NM_001363.5(DKC1):c.915+10G>A rs1603429509
NM_001363118.2(SLC52A2):c.-110-1G>A rs1554853682
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu) rs797045202
NM_001363711.2(DUOX2):c.2654G>T (p.Arg885Leu) rs181461079
NM_001363711.2(DUOX2):c.978_979delinsTT (p.Glu327Ter) rs1566977567
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys) rs797044911
NM_001365951.3(KIF1B):c.3079C>T (p.Arg1027Ter) rs886042662
NM_001365999.1(SZT2):c.4370TCT[1] (p.Phe1458del) rs587777099
NM_001367624.2(ZNF469):c.10332dup (p.Arg3445fs) rs764470052
NM_001367721.1(CASK):c.55G>A (p.Gly19Arg) rs727503840
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser) rs2067099763
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp) rs587783367
NM_001367721.1(CASK):c.802T>C (p.Tyr268His) rs137852817
NM_001369.3(DNAH5):c.11168T>A (p.Leu3723Gln) rs1554033862
NM_001369.3(DNAH5):c.12779A>T (p.Asp4260Val) rs1744309029
NM_001369.3(DNAH5):c.13760A>G (p.Tyr4587Cys) rs1320036244
NM_001369.3(DNAH5):c.7579_7590del (p.Thr2527_Asp2530del) rs1554058577
NM_001369268.1(ACAN):c.1460C>T (p.Thr487Ile) rs2141585529
NM_001369268.1(ACAN):c.910G>A (p.Asp304Asn) rs2141576857
NM_001369369.1(FOXN1):c.1049C>T (p.Pro350Leu)
NM_001369369.1(FOXN1):c.1585del (p.Leu529fs) rs1161194345
NM_001369369.1(FOXN1):c.699+1G>T rs1555609768
NM_001369369.1(FOXN1):c.880G>C (p.Val294Leu) rs1406320425
NM_001369369.1(FOXN1):c.928-2A>G rs2151497815
NM_001369369.1(FOXN1):c.974T>C (p.Leu325Pro) rs1597566470
NM_001370259.2(MEN1):c.1063C>T (p.Arg355Trp) rs863224807
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001370259.2(MEN1):c.1185+1G>A rs1941661315
NM_001370259.2(MEN1):c.1667AGA[1] (p.Lys557del) rs794728661
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.430T>G (p.Phe144Val) rs1114167543
NM_001370259.2(MEN1):c.639C>A (p.Ala213=) rs746067825
NM_001370259.2(MEN1):c.654+3A>T rs1064793168
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu) rs386134259
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro) rs1592647281
NM_001370259.2(MEN1):c.912G>T (p.Lys304Asn) rs1592646211
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.-17+1G>A rs1057516440
NM_001370658.1(BTD):c.-18A>T rs143058480
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg) rs397514408
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu) rs146600671
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter) rs1553654186
NM_001370658.1(BTD):c.1503del (p.Arg502fs) rs1163419871
NM_001370658.1(BTD):c.185C>T (p.Ala62Val) rs397507171
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.395C>G (p.Thr132Arg) rs587783003
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn) rs144717999
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile) rs397514376
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr) rs397514380
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro) rs397514389
NM_001370658.1(BTD):c.806C>T (p.Ala269Val) rs1057520533
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro) rs1157567876
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp) rs1043984708
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys) rs993001712
NM_001371904.1(APOA5):c.494dup (p.Val166fs)
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs) rs749294057
NM_001371986.1(UNC80):c.5161C>T (p.Arg1721Cys) rs1266989763
NM_001371986.1(UNC80):c.9708+1G>A
NM_001374385.1(ATP8B1):c.3118G>A (p.Gly1040Arg)
NM_001374623.1(PNPLA1):c.488C>T (p.Pro163Leu)
NM_001375380.1(EBF3):c.1067G>A (p.Gly356Asp) rs1850629434
NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys) rs2134623972
NM_001375524.1(TRRAP):c.3127G>A (p.Ala1043Thr) rs1562945106
NM_001375524.1(TRRAP):c.3140G>A (p.Arg1047His) rs2116495297
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys) rs1791432323
NM_001375524.1(TRRAP):c.5713A>G (p.Lys1905Glu) rs1791437854
NM_001375567.1(FOCAD):c.2625+2T>C
NM_001375808.2(LPIN2):c.2442+3_2442+6del rs2144115996
NM_001376.5(DYNC1H1):c.12760G>A (p.Gly4254Arg)
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr) rs2047933165
NM_001376.5(DYNC1H1):c.2252G>A (p.Arg751Gln) rs2141275001
NM_001376.5(DYNC1H1):c.4808G>C (p.Arg1603Thr) rs1555409418
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys) rs1057518961
NM_001376.5(DYNC1H1):c.7052C>A (p.Ala2351Glu)
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys) rs879254019
NM_001376.5(DYNC1H1):c.791G>A (p.Arg264Gln) rs713993043
NM_001376.5(DYNC1H1):c.9142G>A (p.Glu3048Lys) rs1555410941
NM_001377.3(DYNC2H1):c.10606-14A>G rs989023092
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.12581C>T (p.Ser4194Phe) rs886042136
NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His) rs1555050986
NM_001377.3(DYNC2H1):c.5771A>T (p.Asp1924Val) rs1565368733
NM_001377.3(DYNC2H1):c.5984C>T (p.Ala1995Val) rs963717773
NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp) rs1555057881
NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys) rs1332318318
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377142.1(PLCB4):c.1223T>C (p.Phe408Ser) rs2148407785
NM_001377265.1(MAPT):c.2014AAG[1] (p.Lys673del) rs63750688
NM_001377265.1(MAPT):c.2228A>G (p.Gln743Arg) rs1568339821
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile) rs2125159718
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg) rs1553757628
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly) rs1559603629
NM_001378454.1(ALMS1):c.11083del (p.Ser3695fs) rs1412574975
NM_001378454.1(ALMS1):c.12462+1del rs750907119
NM_001378457.1(DMXL2):c.5827_5841del (p.Asp1943_Ser1947del) rs606231461
NM_001378477.3(NYX):c.920A>G (p.Asn307Ser) rs62637035
NM_001378609.3(OTOGL):c.3521_3524del (p.Glu1174fs)
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.4315-6_4315-3del rs926806639
NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His) rs1064794798
NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_001378969.1(KCND3):c.1051T>C (p.Phe351Leu) rs1064794895
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg) rs1057521793
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_001378969.1(KCND3):c.1489_1490del (p.Leu497fs) rs1664228420
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp) rs1758081729
NM_001378974.1(FBXW11):c.856T>C (p.Trp286Arg) rs1758225061
NM_001379403.1(WDR26):c.1271A>G (p.Asp424Gly) rs2102912811
NM_001379500.1(COL18A1):c.2214+1G>C
NM_001379500.1(COL18A1):c.3620C>T (p.Ser1207Phe) rs1085307837
NM_001379500.1(COL18A1):c.3847G>T (p.Gly1283Trp) rs1085307935
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del) rs767903021
NM_001379659.1(ZNF142):c.916C>T (p.Gln306Ter)
NM_001381865.2(RCC1):c.238G>A (p.Val80Met)
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro) rs745683775
NM_001384474.1(LOXHD1):c.5085+1G>A rs1418245706
NM_001384474.1(LOXHD1):c.610+2T>A
NM_001386393.1(PANK2):c.1102A>G (p.Lys368Glu) rs559623184
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.785G>A (p.Cys262Tyr) rs149907912
NM_001386393.1(PANK2):c.887A>T (p.Lys296Ile)
NM_001393769.1(MED12L):c.3664+2T>G
NM_001395413.1(POR):c.1761_1767dup (p.Gln590fs) rs1563436030
NM_001395656.1(ROBO2):c.292G>T (p.Gly98Trp) rs2071367863
NM_001395891.1(CLASP1):c.196-607G>A rs180755563
NM_001399.5(EDA):c.794A>G (p.Asp265Gly) rs727504750
NM_001399.5(EDA):c.924+8C>A rs370406516
NM_001399.5(EDA):c.931T>C (p.Tyr311His) rs1085307599
NM_001414.4(EIF2B1):c.115+1G>T
NM_001429.4(EP300):c.2997+1G>A rs1169505007
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6659C>T (p.Pro2220Leu) rs555467754
NM_001451.3(FOXF1):c.322A>G (p.Lys108Glu) rs1969551030
NM_001457.4(FLNB):c.4805C>A (p.Ser1602Tyr) rs2107224888
NM_001457.4(FLNB):c.5375_5377del (p.Glu1792del) rs1470699812
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.3694G>A (p.Gly1232Arg) rs754533053
NM_001458.5(FLNC):c.4951+2T>C rs1585164316
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.6451G>A (p.Gly2151Ser) rs1563003159
NM_001458.5(FLNC):c.8107del (p.Asp2703fs) rs1563006160
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp) rs1244824806
NM_001482.3(GATM):c.553G>C (p.Ala185Pro) rs2140644920
NM_001540.5(HSPB1):c.438dup (p.Gly147fs) rs747325717
NM_001556.3(IKBKB):c.512A>G (p.Lys171Arg) rs1064795873
NM_001563.4(IMPG1):c.1157C>A (p.Ala386Asp) rs144437882
NM_001605.3(AARS1):c.736C>T (p.Arg246Ter) rs756337758
NM_001611.5(ACP5):c.772A>C (p.Ser258Arg)
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu) rs1060500134
NM_001613.4(ACTA2):c.325del (p.Glu109fs) rs2133261333
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) rs1845899655
NM_001613.4(ACTA2):c.404A>G (p.Tyr135Cys) rs2133256406
NM_001613.4(ACTA2):c.419C>T (p.Ala140Val) rs397516683
NM_001613.4(ACTA2):c.64G>A (p.Gly22Ser) rs756496192
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)
NM_001658.4(ARF1):c.278A>G (p.Asp93Gly) rs2124857932
NM_001673.5(ASNS):c.1193A>G (p.Tyr398Cys) rs1166271142
NM_001673.5(ASNS):c.1283A>G (p.Tyr428Cys) rs1791279467
NM_001673.5(ASNS):c.736C>T (p.Arg246Cys) rs757828751
NM_001673.5(ASNS):c.753_755del (p.Arg252del) rs752897486
NM_001692.4(ATP6V1B1):c.319G>A (p.Glu107Lys)
NM_001692.4(ATP6V1B1):c.367+1G>A rs1343871627
NM_001698.3(AUH):c.373C>T (p.Arg125Trp) rs200030276
NM_001723.7(DST):c.22del (p.Tyr8fs) rs775912185
NM_001735.3(C5):c.957CAA[1] (p.Asn320del) rs772444483
NM_001739.2(CA5A):c.767_774+13del rs762768981
NM_001754.5(RUNX1):c.1036dup (p.Arg346fs) rs1601333612
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001770.6(CD19):c.1303+1G>C rs372929312
NM_001791.4(CDC42):c.101C>A (p.Pro34Gln) rs1645575465
NM_001792.5(CDH2):c.1859C>A (p.Ser620Ter)
NM_001792.5(CDH2):c.2027A>G (p.Tyr676Cys) rs199984052
NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs)
NM_001807.6(CEL):c.1776dup (p.Val593fs) rs193922638
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506
NM_001807.6(CEL):c.337C>T (p.Gln113Ter) rs1200339761
NM_001814.6(CTSC):c.116G>C (p.Trp39Ser)
NM_001830.4(CLCN4):c.43G>A (p.Asp15Asn) rs879255591
NM_001830.4(CLCN4):c.944G>A (p.Arg315His) rs1374813094
NM_001844.5(COL2A1):c.1266+5G>A rs1064794958
NM_001844.5(COL2A1):c.139T>C (p.Trp47Arg) rs1064793352
NM_001844.5(COL2A1):c.3655G>T (p.Asp1219Tyr) rs760093841
NM_001844.5(COL2A1):c.3925G>A (p.Asp1309Asn)
NM_001844.5(COL2A1):c.4135C>T (p.Arg1379Cys) rs141951587
NM_001844.5(COL2A1):c.602G>A (p.Gly201Glu)
NM_001844.5(COL2A1):c.870+5G>A rs794727095
NM_001845.6(COL4A1):c.136G>A (p.Gly46Arg)
NM_001845.6(COL4A1):c.1657G>A (p.Gly553Ser)
NM_001845.6(COL4A1):c.1952_1954del (p.Glu651del)
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg) rs2139156269
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu) rs1348341976
NM_001845.6(COL4A1):c.3905G>C (p.Gly1302Ala) rs1877385413
NM_001845.6(COL4A1):c.4583C>T (p.Pro1528Leu) rs1085307967
NM_001845.6(COL4A1):c.607G>A (p.Gly203Arg) rs1057519191
NM_001845.6(COL4A1):c.823G>A (p.Gly275Arg)
NM_001845.6(COL4A1):c.943C>T (p.Arg315Cys) rs1057517719
NM_001846.4(COL4A2):c.1287_1339+1dup rs1566539998
NM_001846.4(COL4A2):c.1759G>A (p.Gly587Ser)
NM_001846.4(COL4A2):c.1898G>A (p.Gly633Asp) rs1057523764
NM_001846.4(COL4A2):c.2285G>A (p.Gly762Glu) rs1882538642
NM_001846.4(COL4A2):c.3301G>A (p.Gly1101Arg)
NM_001846.4(COL4A2):c.3409G>A (p.Gly1137Ser)
NM_001846.4(COL4A2):c.360+2T>C rs2139454253
NM_001846.4(COL4A2):c.4276G>A (p.Gly1426Arg) rs2139553655
NM_001846.4(COL4A2):c.826-1G>T
NM_001848.3(COL6A1):c.1425del (p.Gly476fs) rs878854398
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1845CCT[1] (p.Leu617del) rs1085307560
NM_001848.3(COL6A1):c.788G>A (p.Gly263Asp) rs886043351
NM_001848.3(COL6A1):c.814G>A (p.Gly272Ser) rs398123640
NM_001848.3(COL6A1):c.956A>G (p.Lys319Arg) rs794727059
NM_001849.4(COL6A2):c.1651AAAGGAGAG[1] (p.551KGE[1]) rs773493556
NM_001849.4(COL6A2):c.176T>C (p.Met59Thr) rs886043225
NM_001849.4(COL6A2):c.1997G>A (p.Ser666Asn) rs786205642
NM_001849.4(COL6A2):c.2093C>T (p.Ala698Val) rs1085307668
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_001849.4(COL6A2):c.2593_2608dup (p.Asp870fs) rs1555877258
NM_001849.4(COL6A2):c.2741_2743del (p.Phe914del) rs746930351
NM_001849.4(COL6A2):c.2894G>C (p.Arg965Pro) rs201854898
NM_001849.4(COL6A2):c.3058T>C (p.Ter1020Gln) rs886044576
NM_001849.4(COL6A2):c.403G>A (p.Asp135Asn) rs983938730
NM_001852.4(COL9A2):c.1054-1G>A
NM_001852.4(COL9A2):c.1242del (p.Gly415fs) rs756694568
NM_001853.4(COL9A3):c.1740del (p.Gly581fs) rs1375432712
NM_001854.4(COL11A1):c.2881G>A (p.Gly961Ser) rs975084437
NM_001854.4(COL11A1):c.3276+5G>A rs2101406246
NM_001854.4(COL11A1):c.3692G>T (p.Gly1231Val) rs750291363
NM_001854.4(COL11A1):c.3762G>C (p.Lys1254Asn)
NM_001854.4(COL11A1):c.3816+5G>A rs1057524237
NM_001854.4(COL11A1):c.4086+5G>A
NM_001854.4(COL11A1):c.4151G>T (p.Gly1384Val)
NM_001854.4(COL11A1):c.484G>A (p.Gly162Arg) rs1672165764
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1799G>A (p.Cys600Tyr)
NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser) rs201716417
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys) rs146968493
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)
NM_001876.4(CPT1A):c.100T>C (p.Ser34Pro) rs398123653
NM_001876.4(CPT1A):c.1367C>T (p.Ser456Leu) rs1478167106
NM_001876.4(CPT1A):c.1493A>G (p.Tyr498Cys) rs80356791
NM_001876.4(CPT1A):c.1597T>C (p.Ser533Pro) rs1855050882
NM_001876.4(CPT1A):c.1966C>G (p.His656Asp) rs1405682081
NM_001876.4(CPT1A):c.693+1G>A rs1055176086
NM_001903.5(CTNNA1):c.105+1G>C rs374313094
NM_001903.5(CTNNA1):c.965C>T (p.Ser322Leu) rs1554085478
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.1405C>T (p.Arg469Cys) rs2125640126
NM_001904.4(CTNNB1):c.2138-1G>C rs1057521882
NM_001904.4(CTNNB1):c.2239_2242dup (p.Tyr748Ter) rs2125653590
NM_001904.4(CTNNB1):c.723G>A (p.Val241=) rs483352717
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del) rs1217050849
NM_001918.5(DBT):c.51+1G>C
NM_001927.4(DES):c.1064G>C (p.Arg355Pro) rs61368398
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1358C>T (p.Thr453Ile) rs267607488
NM_001927.4(DES):c.1366G>A (p.Gly456Arg) rs397516690
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_001927.4(DES):c.322G>A (p.Glu108Lys) rs62636490
NM_001927.4(DES):c.380G>C (p.Arg127Pro) rs397516694
NM_001927.4(DES):c.735G>A (p.Glu245=) rs267607486
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_001942.4(DSG1):c.1684G>A (p.Gly562Arg) rs2071779127
NM_001943.5(DSG2):c.1109dup (p.Thr371fs) rs1555627118
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2620del (p.Thr874fs) rs755243947
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001953.5(TYMP):c.355G>A (p.Gly119Arg) rs786205559
NM_001953.5(TYMP):c.895C>A (p.Pro299Thr) rs863224252
NM_001958.5(EEF1A2):c.1366CAGAAGGCG[1] (p.456QKA[1]) rs879255373
NM_001958.5(EEF1A2):c.374C>A (p.Ala125Glu) rs1057518587
NM_001972.4(ELANE):c.558C>A (p.Val186=) rs878855317
NM_001985.3(ETFB):c.2T>C (p.Met1Thr)
NM_001987.5(ETV6):c.1102T>A (p.Phe368Ile)
NM_001987.5(ETV6):c.1288C>T (p.Arg430Ter) rs1437274494
NM_001991.5(EZH1):c.2033C>G (p.Ala678Gly) rs2053293877
NM_001999.4(FBN2):c.3260G>A (p.Gly1087Glu) rs1751115198
NM_001999.4(FBN2):c.3398A>G (p.Asn1133Ser) rs2126903780
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3974-9A>G
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln) rs1064797086
NM_002017.5(FLI1):c.1019G>A (p.Arg340His) rs1131691896
NM_002017.5(FLI1):c.1028A>G (p.Tyr343Cys) rs1064797084
NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)
NM_002047.4(GARS1):c.1031+1G>A rs1554338272
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn) rs104894808
NM_002055.5(GFAP):c.1171+472G>A rs748860341
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002055.5(GFAP):c.209G>A (p.Arg70Gln) rs267607510
NM_002055.5(GFAP):c.620A>T (p.Glu207Val) rs1555574517
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002074.5(GNB1):c.346G>A (p.Gly116Ser) rs1231842600
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp) rs1646670079
NM_002085.5(GPX4):c.502-1del rs1555716575
NM_002087.4(GRN):c.1644+1G>A rs2143349147
NM_002103.5(GYS1):c.1A>C (p.Met1Leu) rs748334413
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu) rs1576203003
NM_002180.3(IGHMBP2):c.1591C>A (p.Pro531Thr) rs756985703
NM_002180.3(IGHMBP2):c.1807C>G (p.Arg603Gly) rs1465803265
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002181.4(IHH):c.787C>T (p.Gln263Ter)
NM_002181.4(IHH):c.949G>A (p.Val317Met) rs886044074
NM_002185.5(IL7R):c.135G>C (p.Gln45His) rs200464578
NM_002185.5(IL7R):c.41T>C (p.Leu14Ser) rs1759661333
NM_002185.5(IL7R):c.898_902del (p.Pro300fs)
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys) rs755693286
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.457-2A>G rs771914739
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup) rs796051982
NM_002225.5(IVD):c.467G>C (p.Gly156Ala) rs1221254988
NM_002225.5(IVD):c.823G>C (p.Val275Leu) rs757832700
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
NM_002225.5(IVD):c.863C>T (p.Ala288Val) rs886042098
NM_002230.4(JUP):c.406G>C (p.Asp136His) rs782392706
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002232.5(KCNA3):c.1363A>G (p.Ile455Val) rs2100949783
NM_002292.4(LAMB2):c.970T>C (p.Cys324Arg) rs2045472442
NM_002303.6(LEPR):c.2153A>G (p.Asn718Ser) rs1424702726
NM_002303.6(LEPR):c.2642G>T (p.Cys881Phe) rs992720162
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002334.4(LRP4):c.3472C>T (p.Arg1158Trp) rs886048351
NM_002335.4(LRP5):c.1732C>T (p.Arg578Trp)
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg) rs80358313
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) rs200389686
NM_002335.4(LRP5):c.3763+2T>C
NM_002335.4(LRP5):c.425G>C (p.Arg142Pro)
NM_002381.5(MATN3):c.653A>G (p.Tyr218Cys) rs1673092558
NM_002386.4(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn) rs1799660837
NM_002397.5(MEF2C):c.1A>G (p.Met1Val) rs1432291994
NM_002397.5(MEF2C):c.44G>A (p.Arg15His) rs1202957297
NM_002430.3(MN1):c.3778G>T (p.Glu1260Ter) rs1933302820
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter) rs147334255
NM_002430.3(MN1):c.3903G>A (p.Trp1301Ter) rs1601319501
NM_002435.3(MPI):c.1023del (p.Val342fs) rs1555479441
NM_002435.3(MPI):c.1054del rs752976348
NM_002435.3(MPI):c.796G>A (p.Glu266Lys) rs1595822583
NM_002435.3(MPI):c.843_844+1del
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) rs762327729
NM_002437.5(MPV17):c.190C>T (p.Pro64Ser)
NM_002437.5(MPV17):c.275A>C (p.Asp92Ala) rs1057524366
NM_002439.5(MSH3):c.127G>A (p.Ala43Thr) rs1351260483
NM_002439.5(MSH3):c.2318+5del rs779491624
NM_002470.4(MYH3):c.1123G>A (p.Glu375Lys) rs121913621
NM_002470.4(MYH3):c.245C>T (p.Pro82Leu)
NM_002470.4(MYH3):c.3568_3576del (p.Val1190_Ala1192del) rs2142395389
NM_002470.4(MYH3):c.3611T>C (p.Leu1204Pro) rs1057518008
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter) rs779530750
NM_002470.4(MYH3):c.5658+3_5658+6del rs2142377032
NM_002471.4(MYH6):c.1203C>A (p.Cys401Ter) rs786205484
NM_002471.4(MYH6):c.452C>T (p.Pro151Leu) rs1131691839
NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter) rs1849911056
NM_002473.6(MYH9):c.257T>A (p.Met86Lys) rs774334908
NM_002473.6(MYH9):c.2680G>A (p.Glu894Lys)
NM_002474.3(MYH11):c.1470dup (p.Met491fs) rs2151274939
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.3728T>C (p.Leu1243Pro) rs1555554139
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002480.3(PPP1R12A):c.1823+2T>C
NM_002485.5(NBN):c.1909_1910delinsTA (p.Ile637Ter) rs1563516254
NM_002485.5(NBN):c.2071-1G>C rs786201965
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) rs751570713
NM_002499.4(NEO1):c.2935C>G (p.Pro979Ala) rs483352721
NM_002500.5(NEUROD1):c.616dup (p.His206fs) rs387906384
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) rs730880965
NM_002524.5(NRAS):c.268T>C (p.Phe90Leu) rs1393160852
NM_002529.4(NTRK1):c.1946G>A (p.Arg649Gln) rs786205449
NM_002541.4(OGDH):c.1456G>A (p.Val486Met) rs1788472672
NM_002591.4(PCK1):c.824del (p.Gly275fs) rs748437548
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys) rs138008832
NM_002617.4(PEX10):c.551del (p.Ile184fs) rs1557910202
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro) rs724160000
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys) rs1060499666
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln) rs1555945553
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924
NM_002653.5(PITX1):c.513C>G (p.Tyr171Ter) rs370433085
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys) rs141612135
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002689.4(POLA2):c.1271C>T (p.Pro424Leu)
NM_002691.4(POLD1):c.1204G>A (p.Asp402Asn) rs1426325954
NM_002691.4(POLD1):c.3185A>G (p.Gln1062Arg) rs2039339156
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp) rs1567190247
NM_002693.3(POLG):c.2265+1G>A
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg) rs1567187837
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.3(POLG):c.2437GTG[1] (p.Val814del) rs1596353095
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile) rs121918050
NM_002693.3(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser) rs531744363
NM_002693.3(POLG):c.2862C>G (p.Ile954Met) rs2152060967
NM_002693.3(POLG):c.2867G>A (p.Gly956Asp) rs758613718
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg) rs121918049
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly) rs1567185468
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup) rs1064794213
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.3(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.3(POLG):c.3643+5G>C
NM_002693.3(POLG):c.824G>A (p.Arg275Gln) rs1555453950
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002709.3(PPP1CB):c.104G>A (p.Arg35Gln)
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys) rs886037955
NM_002739.5(PRKCG):c.1764+1G>A rs1406338491
NM_002739.5(PRKCG):c.347A>G (p.His116Arg) rs2068657131
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_002755.4(MAP2K1):c.169A>C (p.Lys57Gln) rs397516790
NM_002764.4(PRPS1):c.395C>T (p.Ser132Phe) rs1925561449
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile) rs193922655
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg) rs193922656
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser) rs397507440
NM_002772.3(TMPRSS15):c.533-2A>G
NM_002775.5(HTRA1):c.523G>C (p.Val175Leu)
NM_002834.5(PTPN11):c.1402A>G (p.Thr468Ala) rs397507537
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.348T>A (p.His116Gln) rs1482410266
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.5(PTPN11):c.853T>G (p.Phe285Val) rs397507531
NM_002855.5(NECTIN1):c.851+1G>A
NM_002863.5(PYGL):c.1518G>A (p.Glu506=) rs748519147
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr) rs1057519413
NM_002878.4(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.4(RAD51D):c.263+1G>A rs1555570242
NM_002878.4(RAD51D):c.264-1G>A rs2091622013
NM_002878.4(RAD51D):c.2dup (p.Met1fs) rs772306012
NM_002878.4(RAD51D):c.345G>C (p.Gln115His) rs1555568469
NM_002878.4(RAD51D):c.480+1G>A rs1597862471
NM_002878.4(RAD51D):c.576+1G>T rs781161543
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.4(RAD51D):c.667+2T>C
NM_002880.4(RAF1):c.1193G>T (p.Arg398Leu) rs730880382
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
NM_002880.4(RAF1):c.1871C>G (p.Ser624Cys) rs1057524239
NM_002880.4(RAF1):c.1880G>C (p.Arg627Pro)
NM_002880.4(RAF1):c.388T>A (p.Phe130Ile) rs397516821
NM_002880.4(RAF1):c.766A>G (p.Arg256Gly) rs397516825
NM_002880.4(RAF1):c.784A>C (p.Asn262His) rs1575573204
NM_002890.3(RASA1):c.2708G>A (p.Arg903Gln) rs2112509032
NM_002894.3(RBBP8):c.2515C>T (p.Arg839Ter) rs1064796899
NM_002907.4(RECQL):c.132_135del (p.Lys44_Lys45insTer) rs775055596
NM_002907.4(RECQL):c.1461_1462del (p.Asn488fs)
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_002972.4(SBF1):c.1327G>A (p.Asp443Asn) rs690016543
NM_002972.4(SBF1):c.5382_5383del (p.Tyr1795fs) rs1603430221
NM_002972.4(SBF1):c.5394_5395del (p.Ala1799fs) rs1234122324
NM_002972.4(SBF1):c.897+1G>A rs374026247
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg) rs727503415
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.436G>C (p.Asp146His)
NM_003036.4(SKI):c.104C>G (p.Pro35Arg) rs397514589
NM_003036.4(SKI):c.352G>A (p.Glu118Lys) rs869025525
NM_003041.4(SLC5A2):c.484G>A (p.Gly162Arg)
NM_003042.4(SLC6A1):c.1000G>T (p.Ala334Ser) rs749240316
NM_003042.4(SLC6A1):c.1377C>A (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1427-9A>G rs1698019472
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser) rs1057523845
NM_003042.4(SLC6A1):c.279G>A (p.Ala93=) rs1697221045
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr) rs1391625316
NM_003049.4(SLC10A1):c.34_38del (p.Phe12fs) rs747530550
NM_003049.4(SLC10A1):c.754C>A (p.Arg252Ser) rs141269120
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003052.5(SLC34A1):c.532+2T>C rs1762582225
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003060.4(SLC22A5):c.1064C>T (p.Ser355Leu)
NM_003060.4(SLC22A5):c.1078_1083dup (p.Gly360_Leu361dup) rs896634334
NM_003060.4(SLC22A5):c.1085C>T (p.Ser362Leu) rs886042092
NM_003060.4(SLC22A5):c.1138G>A (p.Ala380Thr)
NM_003060.4(SLC22A5):c.1324_1325delinsAT (p.Ala442Ile) rs267607053
NM_003060.4(SLC22A5):c.1346A>G (p.Tyr449Cys) rs1183338050
NM_003060.4(SLC22A5):c.1595_1604dup (p.Pro536fs) rs796052040
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.44G>A (p.Gly15Glu) rs751129547
NM_003060.4(SLC22A5):c.538C>G (p.Gln180Glu) rs1437174685
NM_003060.4(SLC22A5):c.55C>A (p.Arg19Ser) rs1319889867
NM_003060.4(SLC22A5):c.56G>C (p.Arg19Pro) rs72552723
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
NM_003060.4(SLC22A5):c.725G>T (p.Gly242Val) rs72552728
NM_003060.4(SLC22A5):c.797C>T (p.Pro266Leu) rs538372785
NM_003060.4(SLC22A5):c.902C>G (p.Ala301Gly)
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu) rs1554623112
NM_003070.5(SMARCA2):c.3314G>T (p.Arg1105Leu) rs281875197
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys) rs2086534839
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val) rs2146416371
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met) rs1600278307
NM_003072.5(SMARCA4):c.2716C>T (p.Arg906Cys) rs898406635
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser) rs1555778797
NM_003072.5(SMARCA4):c.2896C>T (p.Arg966Trp) rs1227826852
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His) rs770680174
NM_003072.5(SMARCA4):c.3986G>A (p.Arg1329His) rs1555785361
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn) rs1568963037
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003073.5(SMARCB1):c.1142C>G (p.Thr381Arg) rs1387467529
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072
NM_003076.5(SMARCD1):c.494G>A (p.Arg165Gln)
NM_003098.3(SNTA1):c.1498C>T (p.Arg500Cys) rs786205426
NM_003104.6(SORD):c.757del (p.Ala253fs) rs55901542
NM_003106.4(SOX2):c.389G>C (p.Gly130Ala) rs121918652
NM_003107.3(SOX4):c.182G>A (p.Arg61Gln) rs1763098947
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.1048C>A (p.Pro350Thr) rs199789849
NM_003119.4(SPG7):c.1231G>A (p.Asp411Asn) rs745444834
NM_003119.4(SPG7):c.1420C>T (p.His474Tyr) rs1567926386
NM_003119.4(SPG7):c.1727C>G (p.Ser576Trp) rs151249432
NM_003119.4(SPG7):c.1763C>T (p.Thr588Met) rs778387199
NM_003119.4(SPG7):c.1894G>A (p.Gly632Arg) rs368541637
NM_003119.4(SPG7):c.1904C>T (p.Ser635Leu) rs864622507
NM_003119.4(SPG7):c.1931C>T (p.Thr644Ile) rs758702550
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp) rs2152412388
NM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
NM_003119.4(SPG7):c.69G>A (p.Trp23Ter)
NM_003126.4(SPTA1):c.101G>C (p.Arg34Pro) rs567686069
NM_003126.4(SPTA1):c.1406_1408del (p.His469del) rs775280006
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp) rs41273519
NM_003128.3(SPTBN1):c.3007C>T (p.Arg1003Trp) rs2103938644
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003235.5(TG):c.3847+1G>C
NM_003238.6(TGFB2):c.458G>A (p.Arg153His) rs1057518684
NM_003242.6(TGFBR2):c.1066C>T (p.Arg356Trp) rs199660234
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1168G>A (p.Asp390Asn) rs2125436704
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.1255G>C (p.Val419Leu)
NM_003242.6(TGFBR2):c.1275G>A (p.Met425Ile)
NM_003242.6(TGFBR2):c.1525-1G>A rs1699706945
NM_003242.6(TGFBR2):c.1526G>T (p.Gly509Val) rs863223853
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1591G>A (p.Ala531Thr) rs727503477
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.869A>G (p.Glu290Gly) rs1575157782
NM_003280.3(TNNC1):c.161C>A (p.Pro54His) rs876661393
NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn) rs397516849
NM_003322.6(TULP1):c.961T>G (p.Tyr321Asp) rs794726991
NM_003332.4(TYROBP):c.151_152insCTGCTGATGGGAGACTGGTGCTGGGAGATCGTGATGGGAGAC (p.Asp50_Leu51insProAlaAspGlyArgLeuValLeuGlyAspArgAspGlyArg) rs762708303
NM_003361.4(UMOD):c.1492C>T (p.Arg498Ter)
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro) rs1567311288
NM_003361.4(UMOD):c.254A>G (p.Asn85Ser) rs1057522004
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp) rs2141676609
NM_003361.4(UMOD):c.533G>C (p.Arg178Pro) rs1228791562
NM_003361.4(UMOD):c.548A>G (p.Tyr183Cys) rs1064796542
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser) rs1567309965
NM_003384.3(VRK1):c.637T>C (p.Tyr213His) rs1595676477
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003392.7(WNT5A):c.41del (p.Leu14fs) rs2106955417
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe) rs2051315439
NM_003412.4(ZIC1):c.1092C>A (p.Cys364Ter) rs1064794698
NM_003470.3(USP7):c.3043G>A (p.Glu1015Lys)
NM_003470.3(USP7):c.841A>G (p.Lys281Glu) rs2141203936
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs) rs748393033
NM_003482.4(KMT2D):c.10595T>C (p.Ile3532Thr) rs1943100257
NM_003482.4(KMT2D):c.15088C>T (p.Arg5030Cys) rs1555185875
NM_003482.4(KMT2D):c.15458G>A (p.Arg5153Gln)
NM_003482.4(KMT2D):c.15544G>C (p.Gly5182Arg) rs1942591901
NM_003482.4(KMT2D):c.15559G>C (p.Ala5187Pro) rs775954885
NM_003482.4(KMT2D):c.15565G>A (p.Gly5189Arg) rs1555185701
NM_003482.4(KMT2D):c.16480ATC[3] (p.Ile5497del) rs587783704
NM_003482.4(KMT2D):c.16498C>T (p.Arg5500Trp) rs1555184609
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.4421G>A (p.Cys1474Tyr) rs587783718
NM_003482.4(KMT2D):c.838A>G (p.Arg280Gly) rs1555198244
NM_003491.4(NAA10):c.10C>G (p.Arg4Gly) rs2148537151
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln) rs2065169655
NM_003491.4(NAA10):c.455_458del (p.Thr152fs) rs2148534324
NM_003506.4(FZD6):c.869A>G (p.Tyr290Cys) rs786205672
NM_003545.4(H4C5):c.136C>T (p.Arg46Cys) rs950721550
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
NM_003560.4(PLA2G6):c.1612C>A (p.Arg538Ser) rs370691849
NM_003560.4(PLA2G6):c.1756G>A (p.Gly586Arg)
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu) rs1451486649
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_003560.4(PLA2G6):c.2246G>C (p.Trp749Ser) rs587784351
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu) rs776753796
NM_003560.4(PLA2G6):c.757G>A (p.Gly253Ser) rs745643715
NM_003560.4(PLA2G6):c.994T>C (p.Cys332Arg) rs587784364
NM_003590.5(CUL3):c.1636C>T (p.Arg546Ter) rs767240461
NM_003590.5(CUL3):c.2281C>T (p.Arg761Cys)
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs) rs752784904
NM_003620.4(PPM1D):c.1637del (p.Leu546fs) rs1382039751
NM_003632.3(CNTNAP1):c.1163G>C (p.Arg388Pro) rs779027563
NM_003640.5(ELP1):c.3572+5G>A rs773132143
NM_003665.4(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys) rs397516863
NM_003676.4(DEGS1):c.110T>C (p.Met37Thr) rs1388884067
NM_003676.4(DEGS1):c.395A>G (p.His132Arg) rs1558209997
NM_003676.4(DEGS1):c.565A>G (p.Asn189Asp) rs771864122
NM_003709.4(KLF7):c.410C>T (p.Thr137Met) rs1276619385
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn) rs1057518995
NM_003718.5(CDK13):c.159_170dup (p.Pro57_Leu58insProProProPro)
NM_003718.5(CDK13):c.2251C>T (p.Arg751Ter) rs1295790880
NM_003718.5(CDK13):c.2252G>A (p.Arg751Gln) rs1057519634
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter) rs775898119
NM_003718.5(CDK13):c.2602C>T (p.Arg868Trp) rs1472729808
NM_003718.5(CDK13):c.2603G>A (p.Arg868Gln) rs1786184821
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala) rs2150526768
NM_003718.5(CDK13):c.2668C>T (p.Arg890Ter)
NM_003718.5(CDK13):c.476dup (p.Ala162fs)
NM_003718.5(CDK13):c.484dup (p.Ala162fs) rs1405252481
NM_003721.4(RFXANK):c.713-1G>A rs2060720733
NM_003722.5(TP63):c.1655T>G (p.Phe552Cys) rs886039443
NM_003722.5(TP63):c.566C>T (p.Ser189Leu) rs866938979
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003742.4(ABCB11):c.1409G>T (p.Arg470Leu)
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser) rs886043807
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu) rs886044603
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys) rs1026511416
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)
NM_003748.4(ALDH4A1):c.1571G>A (p.Arg524Gln)
NM_003748.4(ALDH4A1):c.1A>G (p.Met1Val)
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003791.4(MBTPS1):c.2831+5G>T
NM_003849.4(SUCLG1):c.719T>G (p.Leu240Arg)
NM_003859.3(DPM1):c.439C>T (p.Arg147Cys) rs1225648834
NM_003865.3(HESX1):c.3G>A (p.Met1Ile) rs2107566038
NM_003896.4(ST3GAL5):c.124del (p.Cys42fs) rs777319882
NM_003907.3(EIF2B5):c.166T>G (p.Phe56Val) rs113994043
NM_003907.3(EIF2B5):c.722G>A (p.Arg241Gln) rs1713453539
NM_003923.3(FOXH1):c.232A>G (p.Lys78Glu) rs143221196
NM_003924.4(PHOX2B):c.385G>A (p.Glu129Lys) rs1560466246
NM_003982.4(SLC7A7):c.1013G>A (p.Gly338Asp) rs386833795
NM_003982.4(SLC7A7):c.1273T>C (p.Cys425Arg) rs386833802
NM_003998.4(NFKB1):c.1210+1G>A rs2149203552
NM_004004.6(GJB2):c.-23G>T rs786204734
NM_004004.6(GJB2):c.101T>G (p.Met34Arg) rs35887622
NM_004004.6(GJB2):c.128T>C (p.Val43Ala)
NM_004004.6(GJB2):c.161A>G (p.Asn54Ser) rs2137308512
NM_004004.6(GJB2):c.187G>A (p.Val63Met) rs370696868
NM_004004.6(GJB2):c.284T>C (p.Val95Ala) rs1250849257
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.389G>C (p.Gly130Ala) rs779018464
NM_004004.6(GJB2):c.464A>G (p.Tyr155Cys) rs776335807
NM_004004.6(GJB2):c.532G>T (p.Val178Leu) rs1275901105
NM_004004.6(GJB2):c.560A>G (p.Glu187Gly) rs1451982228
NM_004004.6(GJB2):c.56G>C (p.Ser19Thr) rs80338941
NM_004004.6(GJB2):c.585G>C (p.Met195Ile) rs570552952
NM_004004.6(GJB2):c.585G>T (p.Met195Ile) rs570552952
NM_004006.3(DMD):c.170T>G (p.Leu57Arg) rs886044431
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004006.3(DMD):c.649G>A (p.Asp217Asn) rs2077187880
NM_004006.3(DMD):c.78T>G (p.Asn26Lys) rs794727272
NM_004006.3(DMD):c.9937T>G (p.Cys3313Gly)
NM_004036.5(ADCY3):c.3133_3134dup (p.Asn1045fs)
NM_004040.4(RHOB):c.218C>T (p.Ser73Phe) rs550750241
NM_004046.6(ATP5F1A):c.1037C>T (p.Ser346Phe) rs2144178477
NM_004069.6(AP2S1):c.28C>T (p.Arg10Trp) rs1064795235
NM_004092.4(ECHS1):c.412G>A (p.Ala138Thr)
NM_004092.4(ECHS1):c.836T>C (p.Phe279Ser) rs1554885535
NM_004183.4(BEST1):c.424_426dup (p.Ser142dup) rs1591284563
NM_004183.4(BEST1):c.568A>T (p.Asn190Tyr)
NM_004183.4(BEST1):c.851A>G (p.Tyr284Cys) rs727503824
NM_004187.5(KDM5C):c.2138C>T (p.Thr713Met) rs1064794733
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu) rs2146821316
NM_004208.4(AIFM1):c.1208A>T (p.Asn403Ile)
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_004211.5(SLC6A5):c.1651C>T (p.Pro551Ser)
NM_004247.4(EFTUD2):c.2477G>A (p.Arg826His) rs2145434319
NM_004247.4(EFTUD2):c.2562-2_2562-1del rs2050474390
NM_004247.4(EFTUD2):c.2627C>T (p.Pro876Leu) rs2145431518
NM_004247.4(EFTUD2):c.670G>A (p.Gly224Arg)
NM_004260.4(RECQL4):c.1483+27_1483+37del
NM_004273.5(CHST3):c.430G>A (p.Gly144Ser) rs1360950889
NM_004273.5(CHST3):c.688G>A (p.Glu230Lys) rs774599785
NM_004287.5(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004320.6(ATP2A1):c.2284C>T (p.Arg762Cys) rs758893778
NM_004329.3(BMPR1A):c.1166+2T>C rs750011688
NM_004329.3(BMPR1A):c.1328G>A (p.Arg443His) rs876659155
NM_004329.3(BMPR1A):c.1330T>C (p.Cys444Arg) rs774061725
NM_004329.3(BMPR1A):c.1409T>C (p.Met470Thr) rs199476089
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1508G>A (p.Cys503Tyr) rs869312790
NM_004329.3(BMPR1A):c.233C>T (p.Thr78Ile) rs1064793490
NM_004329.3(BMPR1A):c.356G>A (p.Arg119His) rs1554888965
NM_004329.3(BMPR1A):c.869-9A>G rs2133588734
NM_004333.6(BRAF):c.1409C>G (p.Thr470Arg) rs397516891
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.793G>C (p.Gly265Arg) rs397516905
NM_004360.5(CDH1):c.1198G>A (p.Asp400Asn) rs1960893142
NM_004360.5(CDH1):c.1320+1G>A
NM_004360.5(CDH1):c.164-1G>A rs1597884512
NM_004360.5(CDH1):c.2100del (p.Val701fs) rs1555517136
NM_004360.5(CDH1):c.2164+5G>A
NM_004360.5(CDH1):c.2245C>T (p.Arg749Trp) rs776975632
NM_004360.5(CDH1):c.2276G>C (p.Gly759Ala) rs945866627
NM_004360.5(CDH1):c.2296-3A>G rs113067020
NM_004360.5(CDH1):c.2439+5_2439+8del rs587782810
NM_004362.3(CLGN):c.386C>A (p.Pro129Gln) rs1560743601
NM_004364.5(CEBPA):c.546GCC[8] (p.Pro189dup) rs746430067
NM_004366.6(CLCN2):c.1705G>A (p.Gly569Ser)
NM_004366.6(CLCN2):c.1885C>T (p.Arg629Cys)
NM_004369.4(COL6A3):c.6199G>A (p.Glu2067Lys) rs760446904
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_004370.6(COL12A1):c.334+1G>A
NM_004370.6(COL12A1):c.6067+1G>A rs1766265062
NM_004370.6(COL12A1):c.8713C>T (p.Arg2905Ter) rs371399251
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr) rs1596839714
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del) rs587783502
NM_004380.3(CREBBP):c.5219A>G (p.His1740Arg) rs1567263724
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr) rs1567263529
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg) rs1564328617
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg) rs1057524561
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
NM_004415.4(DSP):c.1325C>T (p.Ser442Phe) rs1321159751
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.8208dup (p.Val2737fs) rs1581825892
NM_004415.4(DSP):c.868G>A (p.Glu290Lys) rs397516974
NM_004429.5(EFNB1):c.365T>C (p.Met122Thr) rs1556106318
NM_004444.5(EPHB4):c.2233A>G (p.Asn745Asp) rs1584654433
NM_004444.5(EPHB4):c.2419G>A (p.Gly807Arg) rs1330628156
NM_004444.5(EPHB4):c.2459C>T (p.Pro820Leu) rs1584653650
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1116+2T>C rs1561247874
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp) rs1561251388
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.34+5G>A
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.560C>T (p.Ala187Val) rs369912835
NM_004453.4(ETFDH):c.665A>C (p.Gln222Pro) rs1482632936
NM_004453.4(ETFDH):c.786G>T (p.Leu262Phe) rs1450977775
NM_004456.5(EZH2):c.386A>G (p.His129Arg) rs2129477011
NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) rs1557189455
NM_004463.3(FGD1):c.1328G>A (p.Arg443His) rs137853266
NM_004463.3(FGD1):c.1556G>A (p.Arg519His) rs398124157
NM_004463.3(FGD1):c.1564C>T (p.Arg522Cys) rs398124159
NM_004463.3(FGD1):c.1565G>A (p.Arg522His) rs137853264
NM_004493.3(HSD17B10):c.439C>T (p.Arg147Cys) rs1064794694
NM_004519.4(KCNQ3):c.569G>A (p.Arg190Gln) rs796052674
NM_004519.4(KCNQ3):c.956A>G (p.Tyr319Cys) rs1554627218
NM_004523.4(KIF11):c.1834T>C (p.Ser612Pro) rs1844763810
NM_004526.4(MCM2):c.388C>T (p.Arg130Cys) rs770528099
NM_004531.5(MOCS2):c.78T>C (p.Asp26=)
NM_004544.4(NDUFA10):c.604dup (p.His202fs) rs746019378
NM_004544.4(NDUFA10):c.76-2A>G rs917371150
NM_004560.4(ROR2):c.1969C>T (p.Arg657Cys) rs753875871
NM_004563.4(PCK2):c.509C>T (p.Pro170Leu)
NM_004586.3(RPS6KA3):c.1603-5A>G rs1569194162
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser) rs864321630
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=) rs2034990430
NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp) rs864321629
NM_004612.4(TGFBR1):c.575G>T (p.Gly192Val)
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe) rs863223812
NM_004612.4(TGFBR1):c.733G>A (p.Glu245Lys) rs1057524497
NM_004612.4(TGFBR1):c.763C>T (p.Arg255Cys) rs1588585570
NM_004614.5(TK2):c.415G>T (p.Ala139Ser) rs138479499
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys) rs1555003819
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp) rs869025541
NM_004628.5(XPC):c.2033+5G>A rs374329989
NM_004628.5(XPC):c.2194dup (p.Leu732fs) rs1309116467
NM_004629.2(FANCG):c.161dup (p.His55fs) rs886063898
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly) rs759314410
NM_004632.4(DAP3):c.1139T>G (p.Leu380Arg)
NM_004646.4(NPHS1):c.-489GA[7] rs139954720
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
NM_004646.4(NPHS1):c.2072-6C>G rs200253809
NM_004646.4(NPHS1):c.2506+5G>T rs762704370
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys) rs778951863
NM_004646.4(NPHS1):c.2869G>A (p.Val957Met) rs114849139
NM_004646.4(NPHS1):c.2928-3del
NM_004646.4(NPHS1):c.3024A>G (p.Arg1008=) rs1131691606
NM_004646.4(NPHS1):c.3233C>A (p.Ala1078Asp)
NM_004646.4(NPHS1):c.3286+5G>A rs1555759089
NM_004646.4(NPHS1):c.3418C>T (p.Arg1140Cys) rs143092783
NM_004646.4(NPHS1):c.3555_3574del (p.Ser1186fs) rs767832658
NM_004646.4(NPHS1):c.3622_3625del (p.Asp1208fs) rs1186290245
NM_004646.4(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004646.4(NPHS1):c.710T>C (p.Leu237Pro) rs373835033
NM_004655.4(AXIN2):c.1907+1G>A rs2043930740
NM_004656.4(BAP1):c.1891-1G>A rs1705011794
NM_004656.4(BAP1):c.422A>G (p.His141Arg) rs1705201896
NM_004656.4(BAP1):c.518A>G (p.Tyr173Cys)
NM_004656.4(BAP1):c.535C>T (p.Arg179Trp) rs910211860
NM_004700.4(KCNQ4):c.1012C>T (p.Arg338Trp) rs2148320413
NM_004700.4(KCNQ4):c.825G>C (p.Trp275Cys) rs956666801
NM_004700.4(KCNQ4):c.839C>A (p.Thr280Lys) rs2148319965
NM_004700.4(KCNQ4):c.860G>T (p.Gly287Val) rs2148320011
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu) rs760907496
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.544-8_544-3del rs1064794383
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004793.4(LONP1):c.2026C>T (p.Pro676Ser) rs879255247
NM_004813.4(PEX16):c.956_958del (p.Pro319del) rs754790425
NM_004817.4(TJP2):c.1202A>G (p.Glu401Gly) rs1057515614
NM_004817.4(TJP2):c.1444del (p.Asp482fs) rs727503479
NM_004818.3(DDX23):c.2264C>T (p.Thr755Met) rs1938372282
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val) rs891749853
NM_004820.5(CYP7B1):c.788T>G (p.Val263Gly)
NM_004826.4(ECEL1):c.367T>C (p.Cys123Arg)
NM_004830.4(MED23):c.3988C>T (p.Arg1330Ter) rs527236036
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
NM_004859.4(CLTC):c.4920G>A (p.Met1640Ile)
NM_004897.5(MINPP1):c.992T>G (p.Ile331Ser) rs749643952
NM_004928.3(CFAP410):c.143+3A>T
NM_004928.3(CFAP410):c.269G>C (p.Arg90Pro) rs567435284
NM_004928.3(CFAP410):c.96+4del rs1268187387
NM_004937.3(CTNS):c.225+5_225+8del rs1555561048
NM_004937.3(CTNS):c.73A>T (p.Ser25Cys) rs777367316
NM_004949.5(DSC2):c.1234dup (p.Thr412fs) rs397517390
NM_004958.4(MTOR):c.4444C>T (p.Arg1482Cys) rs1031980569
NM_004958.4(MTOR):c.5911G>A (p.Ala1971Thr) rs1057524049
NM_004959.5(NR5A1):c.593C>T (p.Pro198Leu)
NM_004972.4(JAK2):c.1691G>A (p.Arg564Gln)
NM_004974.4(KCNA2):c.928C>T (p.His310Tyr)
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile) rs1984243311
NM_004975.4(KCNB1):c.536T>C (p.Leu179Pro) rs2122803080
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) rs1601071839
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.917G>A (p.Arg306His) rs1984262011
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser) rs1984257387
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del) rs747618525
NM_004984.4(KIF5A):c.968G>A (p.Arg323Gln) rs2140163000
NM_004999.4(MYO6):c.3137+1G>A rs200713129
NM_004999.4(MYO6):c.3610C>T (p.Arg1204Trp) rs876657911
NM_005026.5(PIK3CD):c.1574A>G (p.Glu525Gly) rs1557669079
NM_005051.3(QARS1):c.1058G>T (p.Gly353Val) rs752600100
NM_005051.3(QARS1):c.1615-2A>T rs369802930
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005055.5(RAPSN):c.272G>T (p.Arg91Leu) rs375218091
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)
NM_005094.4(SLC27A4):c.1207T>C (p.Cys403Arg)
NM_005094.4(SLC27A4):c.1510C>T (p.Arg504Cys)
NM_005120.3(MED12):c.3956G>A (p.Arg1319His) rs1421325265
NM_005120.3(MED12):c.4832G>A (p.Arg1611His) rs1569482153
NM_005138.3(SCO2):c.244_246del (p.Lys82del) rs757005556
NM_005141.4(FGB):c.586C>T (p.Arg196Cys) rs121909623
NM_005159.5(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.5(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
NM_005159.5(ACTC1):c.664G>A (p.Ala222Thr) rs1555418793
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005188.4(CBL):c.1099_1101del (p.Gln367del) rs1555230070
NM_005188.4(CBL):c.1202G>T (p.Cys401Phe) rs1357686410
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg) rs755557498
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala) rs1229733932
NM_005214.5(CTLA4):c.118G>A (p.Val40Met) rs1553657378
NM_005214.5(CTLA4):c.160G>A (p.Ala54Thr) rs1553657387
NM_005214.5(CTLA4):c.416A>G (p.Tyr139Cys) rs1581573923
NM_005236.3(ERCC4):c.580_584+1del rs776329282
NM_005247.4(FGF3):c.314T>A (p.Leu105His)
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr) rs1881803464
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys) rs786205012
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe) rs1555321334
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro) rs1555321361
NM_005262.3(GFER):c.199del (p.Arg67fs) rs863224028
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) rs2149015482
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005267.5(GJA8):c.565C>T (p.Pro189Ser) rs2149015924
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
NM_005267.5(GJA8):c.601G>A (p.Glu201Lys)
NM_005267.5(GJA8):c.64G>A (p.Gly22Ser) rs2149015335
NM_005276.4(GPD1):c.361G>A (p.Gly121Arg) rs35428353
NM_005343.4(HRAS):c.175G>A (p.Ala59Thr) rs727503093
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile) rs1568211172
NM_005373.3(MPL):c.1589C>T (p.Pro530Leu)
NM_005378.6(MYCN):c.1180C>T (p.Arg394Cys)
NM_005378.6(MYCN):c.173C>T (p.Thr58Met)
NM_005422.4(TECTA):c.5692T>C (p.Cys1898Arg) rs1591464207
NM_005422.4(TECTA):c.6016G>A (p.Asp2006Asn) rs2134215546
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.651_652del (p.Cys217_Asp218delinsTer) rs746142129
NM_005431.2(XRCC2):c.96del (p.Phe32fs) rs730882048
NM_005445.4(SMC3):c.181C>T (p.Arg61Trp) rs866273473
NM_005445.4(SMC3):c.2636G>C (p.Arg879Pro) rs797045996
NM_005445.4(SMC3):c.3373C>G (p.Leu1125Val) rs901512521
NM_005450.6(NOG):c.125C>T (p.Pro42Leu) rs1018505000
NM_005458.8(GABBR2):c.1724C>A (p.Thr575Asn)
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val) rs1574509510
NM_005465.7(AKT3):c.803T>C (p.Val268Ala) rs1674673024
NM_005476.7(GNE):c.1057A>G (p.Lys353Glu) rs1554660090
NM_005476.7(GNE):c.1583T>G (p.Phe528Cys) rs986773986
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr) rs387906347
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.425T>C (p.Ile142Thr) rs1829868500
NM_005476.7(GNE):c.910G>A (p.Gly304Arg) rs755743750
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn) rs1555475961
NM_005499.3(UBA2):c.1834A>T (p.Arg612Trp)
NM_005515.4(MNX1):c.832C>T (p.Leu278Phe) rs370066878
NM_005515.4(MNX1):c.885A>C (p.Lys295Asn) rs1064794653
NM_005518.4(HMGCS2):c.334C>T (p.Arg112Trp)
NM_005548.3(KARS1):c.1486T>C (p.Cys496Arg) rs776736207
NM_005562.3(LAMC2):c.1A>G (p.Met1Val) rs886045625
NM_005585.5(SMAD6):c.1084C>T (p.Gln362Ter) rs1894556452
NM_005585.5(SMAD6):c.124C>T (p.Arg42Ter) rs1447391811
NM_005585.5(SMAD6):c.2T>C (p.Met1Thr) rs1409145798
NM_005585.5(SMAD6):c.40T>C (p.Trp14Arg)
NM_005585.5(SMAD6):c.511G>T (p.Glu171Ter) rs1893037722
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_005585.5(SMAD6):c.706C>T (p.Gln236Ter)
NM_005585.5(SMAD6):c.817G>T (p.Glu273Ter) rs1259557323
NM_005591.4(MRE11):c.21-6_26del rs587780138
NM_005592.4(MUSK):c.2365G>A (p.Gly789Ser) rs1057518966
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr) rs954192338
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val) rs1465752595
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln) rs368608057
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu) rs119103256
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val)
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp) rs367990192
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp) rs1555136375
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
NM_005619.5(RTN2):c.938dup (p.Thr314fs) rs748397131
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del) rs2091437670
NM_005633.4(SOS1):c.1433C>G (p.Pro478Arg) rs1553356111
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.4(SOS1):c.2671G>A (p.Glu891Lys) rs1553353452
NM_005633.4(SOS1):c.323A>G (p.Glu108Gly) rs886041923
NM_005639.3(SYT1):c.845G>A (p.Arg282His) rs1882993257
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys) rs2149946003
NM_005654.6(NR2F1):c.665T>C (p.Leu222Pro)
NM_005677.4(COLQ):c.1162G>A (p.Asp388Asn) rs1008156537
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005701.4(SNUPN):c.164G>A (p.Arg55Gln)
NM_005726.6(TSFM):c.1A>G (p.Met1Val)
NM_005726.6(TSFM):c.484G>A (p.Gly162Ser)
NM_005732.4(RAD50):c.3639del (p.Arg1214fs) rs1554101172
NM_005732.4(RAD50):c.3753-5T>A rs1581024884
NM_005732.4(RAD50):c.3763del (p.Ser1255fs) rs760621534
NM_005732.4(RAD50):c.3799dup (p.Ile1267fs) rs1554101324
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) rs1085307088
NM_005807.6(PRG4):c.2247del (p.Ala750fs) rs1656851989
NM_005857.5(ZMPSTE24):c.951_954+2del rs747563189
NM_005859.5(PURA):c.305T>C (p.Leu102Pro) rs793888531
NM_005859.5(PURA):c.486C>G (p.Asn162Lys) rs1085307826
NM_005861.4(STUB1):c.824del (p.Leu275fs) rs2039704654
NM_005861.4(STUB1):c.832del (p.Glu278fs) rs1555475529
NM_005862.3(STAG1):c.659A>G (p.His220Arg) rs1057519153
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)
NM_005901.6(SMAD2):c.790C>T (p.Gln264Ter) rs1914769460
NM_005902.4(SMAD3):c.1091A>G (p.Tyr364Cys) rs886039177
NM_005902.4(SMAD3):c.110_115del (p.Ser37_Val39delinsIle) rs863223769
NM_005902.4(SMAD3):c.1187T>A (p.Ile396Asn) rs1595965957
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.371C>T (p.Pro124Leu) rs886039050
NM_005902.4(SMAD3):c.533-1G>A rs1350129614
NM_005902.4(SMAD3):c.607+1G>T rs1060500771
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln) rs759103361
NM_005909.5(MAP1B):c.4967A>C (p.Gln1656Pro)
NM_005912.3(MC4R):c.173G>A (p.Ser58Asn)
NM_005912.3(MC4R):c.206T>C (p.Ile69Thr)
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005912.3(MC4R):c.63_64del (p.Tyr21_Arg22delinsTer) rs770293321
NM_005957.5(MTHFR):c.1228_1242del (p.Ser410_Lys414del) rs1297161027
NM_005957.5(MTHFR):c.346G>A (p.Ala116Thr) rs1056919085
NM_005989.4(AKR1D1):c.940T>C (p.Trp314Arg) rs1315777461
NM_005993.5(TBCD):c.1126G>A (p.Val376Met) rs183349235
NM_005993.5(TBCD):c.1739G>A (p.Arg580Gln) rs780523169
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del) rs1560418164
NM_006005.3(WFS1):c.1289C>T (p.Ser430Leu) rs1235562712
NM_006005.3(WFS1):c.1511C>G (p.Pro504Arg) rs28937892
NM_006005.3(WFS1):c.1820C>G (p.Pro607Arg) rs373862003
NM_006005.3(WFS1):c.1922C>A (p.Thr641Lys) rs376626985
NM_006005.3(WFS1):c.2061G>C (p.Gln687His) rs760938537
NM_006005.3(WFS1):c.2096C>T (p.Thr699Met) rs28937894
NM_006005.3(WFS1):c.2311G>T (p.Asp771Tyr)
NM_006005.3(WFS1):c.529C>T (p.Arg177Cys) rs760631912
NM_006005.3(WFS1):c.568AAG[3] (p.Lys193del) rs752461187
NM_006009.4(TUBA1A):c.188C>T (p.Pro63Leu) rs2121247772
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala) rs1565627795
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu) rs1565627304
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val) rs587784489
NM_006009.4(TUBA1A):c.528G>C (p.Gln176His)
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn) rs1057517858
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006015.6(ARID1A):c.5125C>T (p.Leu1709Phe) rs2081163988
NM_006015.6(ARID1A):c.6099GGA[2] (p.Glu2036del) rs2081176133
NM_006015.6(ARID1A):c.67G>T (p.Glu23Ter) rs1557569082
NM_006019.4(TCIRG1):c.117+4A>C rs751881962
NM_006019.4(TCIRG1):c.1228G>A (p.Gly410Arg)
NM_006019.4(TCIRG1):c.2414G>A (p.Trp805Ter) rs1555000308
NM_006019.4(TCIRG1):c.2415-2A>G rs1555000376
NM_006019.4(TCIRG1):c.303_309del (p.Glu102fs) rs886048594
NM_006019.4(TCIRG1):c.418-21A>G rs1855249165
NM_006031.6(PCNT):c.9701-2A>G
NM_006031.6(PCNT):c.9701-2A>T
NM_006060.6(IKZF1):c.448T>C (p.Cys150Arg) rs1812147849
NM_006060.6(IKZF1):c.485G>T (p.Arg162Leu) rs770551610
NM_006060.6(IKZF1):c.548G>A (p.Arg183His) rs1812172495
NM_006073.4(TRDN):c.1166-1G>A rs1298986609
NM_006073.4(TRDN):c.1794del (p.Lys598fs) rs1412913007
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs) rs750469686
NM_006080.3(SEMA3A):c.1450C>T (p.Arg484Trp)
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser) rs587784505
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu) rs587784506
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys) rs1057518686
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) rs886041020
NM_006087.4(TUBB4A):c.523G>A (p.Val175Met)
NM_006087.4(TUBB4A):c.673C>T (p.Leu225Phe) rs1568409639
NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) rs121434229
NM_006147.4(IRF6):c.911T>C (p.Leu304Pro) rs1064793154
NM_006147.4(IRF6):c.961G>A (p.Val321Met) rs2102536882
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)
NM_006180.6(NTRK2):c.2143C>T (p.Arg715Trp)
NM_006204.4(PDE6C):c.1613T>C (p.Phe538Ser) rs786205462
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys) rs1449637193
NM_006208.3(ENPP1):c.583T>C (p.Cys195Arg)
NM_006218.4(PIK3CA):c.1252G>A (p.Glu418Lys) rs397517199
NM_006218.4(PIK3CA):c.325GAA[1] (p.Glu110del) rs1724343994
NM_006231.4(POLE):c.1021-26_1045delinsGTTCTACACC rs1555229232
NM_006231.4(POLE):c.1231G>C (p.Val411Leu) rs1057519945
NM_006231.4(POLE):c.1487del (p.Gly496fs) rs1555228358
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.205-2A>G rs2043148194
NM_006231.4(POLE):c.2932G>T (p.Glu978Ter) rs1555225958
NM_006231.4(POLE):c.2T>C (p.Met1Thr) rs879254126
NM_006231.4(POLE):c.4149+2T>C rs1064796760
NM_006231.4(POLE):c.4290+1G>A rs1565940214
NM_006231.4(POLE):c.4480_4481del (p.Gln1494fs) rs1593733806
NM_006231.4(POLE):c.4551+2_4551+3del rs1251654299
NM_006231.4(POLE):c.5378+1G>T rs747165215
NM_006231.4(POLE):c.5552+1G>A rs1555221894
NM_006231.4(POLE):c.5553-1G>A rs1064796152
NM_006231.4(POLE):c.6136+1G>T rs1593708662
NM_006231.4(POLE):c.6623del (p.Gln2208fs) rs1555301070
NM_006236.3(POU3F3):c.1303_1305del (p.Glu435del)
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006261.5(PROP1):c.611del (p.Gly204fs) rs1554182368
NM_006261.5(PROP1):c.629dup (p.Pro211fs) rs761018422
NM_006265.3(RAD21):c.160C>T (p.Arg54Trp)
NM_006265.3(RAD21):c.1753T>C (p.Cys585Arg) rs387907213
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_006269.2(RP1):c.3319C>G (p.Gln1107Glu) rs939932729
NM_006294.5(UQCRB):c.324G>T (p.Trp108Cys) rs863224258
NM_006295.3(VARS1):c.1341G>T (p.Met447Ile) rs1581645904
NM_006295.3(VARS1):c.3203C>T (p.Thr1068Met)
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.1136AAG[2] (p.Glu381del) rs797045991
NM_006306.4(SMC1A):c.124A>G (p.Met42Val) rs1556891104
NM_006306.4(SMC1A):c.1457A>G (p.Asp486Gly) rs587784405
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys) rs587784422
NM_006329.4(FBLN5):c.161G>A (p.Arg54Gln) rs759434738
NM_006343.3(MERTK):c.2180G>A (p.Arg727Gln) rs878853354
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs) rs1342715176
NM_006348.5(COG5):c.-85_-84delGG rs1049832940
NM_006383.4(CIB2):c.557G>A (p.Arg186Gln) rs1281648597
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.1A>G (p.Met1Val)
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006421.5(ARFGEF1):c.4655dup (p.Pro1553fs)
NM_006432.5(NPC2):c.358C>A (p.Pro120Thr)
NM_006432.5(NPC2):c.417CTG[1] (p.Cys140del) rs781255433
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del) rs1911196248
NM_006445.4(PRPF8):c.6938A>G (p.His2313Arg) rs1555550045
NM_006493.4(CLN5):c.173+5G>A rs2034192763
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006494.4(ERF):c.194G>A (p.Arg65Gln) rs587777009
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp) rs267607059
NM_006516.4(SLC2A1):c.259G>A (p.Val87Ile) rs1643484242
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
NM_006516.4(SLC2A1):c.523G>C (p.Gly175Arg) rs1085308009
NM_006516.4(SLC2A1):c.593T>C (p.Leu198Pro) rs2124449372
NM_006516.4(SLC2A1):c.937T>C (p.Ser313Pro) rs886041633
NM_006516.4(SLC2A1):c.985G>A (p.Glu329Lys) rs2124448063
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His) rs727504155
NM_006531.5(IFT88):c.1082dup (p.Asn361fs) rs1594100988
NM_006531.5(IFT88):c.2087G>C (p.Arg696Pro) rs373832683
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter) rs886037963
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln) rs1567610917
NM_006565.4(CTCF):c.1129C>A (p.Arg377Ser) rs1555535157
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly) rs770597592
NM_006567.5(FARS2):c.253C>G (p.Pro85Ala) rs770035560
NM_006567.5(FARS2):c.457A>G (p.Arg153Gly) rs1561990337
NM_006579.3(EBP):c.301+3G>C rs2147154777
NM_006593.4(TBR1):c.1168G>C (p.Gly390Arg)
NM_006618.5(KDM5B):c.1436T>C (p.Ile479Thr) rs2102262030
NM_006623.4(PHGDH):c.403C>T (p.Arg135Trp) rs267606949
NM_006623.4(PHGDH):c.418G>A (p.Gly140Arg) rs587777770
NM_006623.4(PHGDH):c.488G>A (p.Arg163Gln) rs587777483
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006642.5(SDCCAG8):c.1853+1G>A rs1573930690
NM_006662.3(SRCAP):c.1135-2A>G
NM_006662.3(SRCAP):c.8257C>T (p.Arg2753Trp) rs1131691316
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser) rs1064794000
NM_006767.4(LZTR1):c.1199T>C (p.Met400Thr)
NM_006767.4(LZTR1):c.1214G>C (p.Gly405Ala)
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1250A>C (p.Tyr417Ser) rs1057524046
NM_006767.4(LZTR1):c.1339T>G (p.Phe447Val) rs1312334046
NM_006767.4(LZTR1):c.1353+1G>T
NM_006767.4(LZTR1):c.1449G>A (p.Gln483=)
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.209A>G (p.Lys70Arg)
NM_006767.4(LZTR1):c.2443C>T (p.Gln815Ter)
NM_006767.4(LZTR1):c.273G>A (p.Met91Ile) rs1924362561
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del) rs755783378
NM_006767.4(LZTR1):c.594-3C>G
NM_006767.4(LZTR1):c.651+5G>A rs766055427
NM_006767.4(LZTR1):c.652-1G>C
NM_006767.4(LZTR1):c.677C>T (p.Pro226Leu) rs2147964011
NM_006767.4(LZTR1):c.686G>C (p.Cys229Ser) rs2147964025
NM_006767.4(LZTR1):c.851G>A (p.Arg284His) rs768361273
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu) rs397514670
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp) rs1064795331
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu) rs1761012352
NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=) rs1057518786
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr) rs1200128322
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu) rs875989808
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe) rs1761209473
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys) rs1554121206
NM_006796.3(AFG3L2):c.1219G>A (p.Asp407Asn) rs2143171648
NM_006796.3(AFG3L2):c.1540C>T (p.Pro514Ser) rs1005670966
NM_006796.3(AFG3L2):c.2114T>C (p.Ile705Thr) rs1598820805
NM_006828.4(ASCC3):c.1597-2A>G
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp) rs1567948262
NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln) rs2147165727
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp) rs1555639254
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_006892.4(DNMT3B):c.2477G>A (p.Arg826His) rs756972254
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_006912.6(RIT1):c.116T>G (p.Met39Arg) rs2102590945
NM_006912.6(RIT1):c.233G>A (p.Gly78Glu) rs1557960268
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006914.4(RORB):c.1163T>A (p.Ile388Asn)
NM_006914.4(RORB):c.784T>C (p.Cys262Arg) rs2118516548
NM_006915.3(RP2):c.11TCT[1] (p.Phe5del) rs1556313414
NM_006915.3(RP2):c.566T>C (p.Leu189Pro) rs1924908706
NM_006915.3(RP2):c.768G>C (p.Glu256Asp) rs1227276668
NM_006922.4(SCN3A):c.2293G>A (p.Ala765Thr) rs1687767627
NM_006929.5(SKIC2):c.1903C>T (p.His635Tyr)
NM_006939.4(SOS2):c.1648C>G (p.Arg550Gly) rs1344304906
NM_006940.6(SOX5):c.1977C>A (p.Tyr659Ter) rs2135892447
NM_006941.4(SOX10):c.323T>C (p.Met108Thr) rs1932464492
NM_006941.4(SOX10):c.415G>T (p.Gly139Cys) rs1569171143
NM_006946.4(SPTBN2):c.185C>A (p.Thr62Asn) rs2135526299
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro) rs1554984881
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val) rs1940755126
NM_006949.4(STXBP2):c.703C>T (p.Arg235Trp)
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln) rs2057892972
NM_007035.4(KERA):c.1026del (p.Cys343fs) rs386833984
NM_007055.4(POLR3A):c.1186G>T (p.Val396Leu) rs1428468560
NM_007055.4(POLR3A):c.1649A>G (p.Tyr550Cys) rs886047289
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007055.4(POLR3A):c.2011T>C (p.Trp671Arg) rs1446265632
NM_007055.4(POLR3A):c.2533A>G (p.Thr845Ala)
NM_007055.4(POLR3A):c.2547C>G (p.Phe849Leu) rs1847342207
NM_007055.4(POLR3A):c.3014G>T (p.Arg1005Leu) rs200118797
NM_007059.4(KPTN):c.863+5G>A rs774473819
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007103.4(NDUFV1):c.383G>T (p.Arg128Leu)
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
NM_007103.4(NDUFV1):c.736G>A (p.Glu246Lys)
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln) rs1745369142
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly) rs2152363791
NM_007118.4(TRIO):c.7379C>T (p.Pro2460Leu) rs771188369
NM_007126.5(VCP):c.383G>C (p.Gly128Ala) rs1554668979
NM_007194.4(CHEK2):c.1102G>A (p.Asp368Asn) rs755127902
NM_007194.4(CHEK2):c.1147A>G (p.Thr383Ala) rs769439021
NM_007194.4(CHEK2):c.1159A>G (p.Thr387Ala) rs771387164
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1183G>C (p.Val395Leu) rs587780170
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.1417_1428del (p.Ala473_Thr476del) rs876659422
NM_007194.4(CHEK2):c.1461+5G>A rs769841229
NM_007194.4(CHEK2):c.1542+3A>G rs1060502722
NM_007194.4(CHEK2):c.1A>G (p.Met1Val) rs863224748
NM_007194.4(CHEK2):c.1A>T (p.Met1Leu) rs863224748
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.422A>C (p.Lys141Thr) rs786203192
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.593-1G>C rs786203229
NM_007194.4(CHEK2):c.762G>T (p.Arg254Ser) rs878854922
NM_007194.4(CHEK2):c.846+4_846+7del rs764884641
NM_007198.4(PLPBP):c.199G>A (p.Glu67Lys)
NM_007198.4(PLPBP):c.676T>C (p.Ser226Pro)
NM_007215.4(POLG2):c.873C>G (p.Tyr291Ter) rs1555668353
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro) rs376854895
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu) rs587784367
NM_007272.3(CTRC):c.132G>A (p.Gln44=)
NM_007272.3(CTRC):c.231-2A>G rs1570783505
NM_007272.3(CTRC):c.494-1G>A
NM_007272.3(CTRC):c.649G>C (p.Gly217Arg) rs202058123
NM_007289.4(MME):c.1946T>C (p.Ile649Thr) rs184666602
NM_007294.3(BRCA1):c.5193+3_5193+15del rs273901752
NM_007294.4(BRCA1):c.122A>T (p.His41Leu) rs80357276
NM_007294.4(BRCA1):c.134+5G>A rs80358038
NM_007294.4(BRCA1):c.140G>T (p.Cys47Phe) rs80357150
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg) rs28897672
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg) rs80357116
NM_007294.4(BRCA1):c.301+1G>A rs587782173
NM_007294.4(BRCA1):c.301+1G>C rs587782173
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4232T>C (p.Met1411Thr) rs273900729
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter) rs876659614
NM_007294.4(BRCA1):c.4484+5G>T rs886040910
NM_007294.4(BRCA1):c.4484G>A (p.Arg1495Lys) rs80357389
NM_007294.4(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.4(BRCA1):c.4951T>C (p.Ser1651Pro) rs879254042
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser) rs1567772408
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5041A>C (p.Thr1681Pro) rs876659314
NM_007294.4(BRCA1):c.5056C>T (p.His1686Tyr) rs1555579648
NM_007294.4(BRCA1):c.5072C>A (p.Thr1691Lys) rs80357034
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile) rs80357034
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5075A>C (p.Asp1692Ala) rs397509222
NM_007294.4(BRCA1):c.5078_5080del (p.Ala1693del) rs80358345
NM_007294.4(BRCA1):c.5089T>C (p.Cys1697Arg) rs80356993
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro) rs41293459
NM_007294.4(BRCA1):c.5096G>T (p.Arg1699Leu) rs41293459
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala) rs397509227
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp) rs863224763
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys) rs876660071
NM_007294.4(BRCA1):c.5117G>A (p.Gly1706Glu) rs80356860
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala) rs80357132
NM_007294.4(BRCA1):c.5141T>G (p.Val1714Gly) rs80357243
NM_007294.4(BRCA1):c.5144G>A (p.Ser1715Asn) rs45444999
NM_007294.4(BRCA1):c.5145C>A (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.5145C>G (p.Ser1715Arg) rs80357094
NM_007294.4(BRCA1):c.5152+5G>A rs80358165
NM_007294.4(BRCA1):c.5152+6T>C rs80358074
NM_007294.4(BRCA1):c.5152+6T>G rs80358074
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly) rs1567769155
NM_007294.4(BRCA1):c.5153G>C (p.Trp1718Ser) rs41293461
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5164T>C (p.Ser1722Pro) rs483353100
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5194-12G>A rs80358079
NM_007294.4(BRCA1):c.5202T>G (p.Phe1734Leu) rs869320780
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.4(BRCA1):c.5212G>A (p.Gly1738Arg) rs80356937
NM_007294.4(BRCA1):c.5213G>A (p.Gly1738Glu) rs80357450
NM_007294.4(BRCA1):c.5215G>T (p.Asp1739Tyr) rs80357283
NM_007294.4(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.4(BRCA1):c.5236C>G (p.His1746Asp) rs80357146
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp) rs397509243
NM_007294.4(BRCA1):c.5254G>A (p.Ala1752Thr) rs80357074
NM_007294.4(BRCA1):c.5291T>C (p.Leu1764Pro) rs80357281
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn) rs80357112
NM_007294.4(BRCA1):c.5333-6T>G rs397509266
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro) rs398122697
NM_007294.4(BRCA1):c.5363G>A (p.Gly1788Asp) rs80357069
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr) rs80357078
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys) rs80356929
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.5425G>T (p.Val1809Phe) rs28897698
NM_007294.4(BRCA1):c.5426T>C (p.Val1809Ala) rs80357216
NM_007294.4(BRCA1):c.5432A>G (p.Gln1811Arg) rs80357040
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.4(BRCA1):c.5513T>G (p.Val1838Gly) rs80357107
NM_007294.4(BRCA1):c.5516T>C (p.Leu1839Ser) rs398122702
NM_007294.4(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.4(BRCA1):c.5522G>A (p.Ser1841Asn) rs80357368
NM_007294.4(BRCA1):c.5522G>C (p.Ser1841Thr) rs80357368
NM_007294.4(BRCA1):c.5525T>A (p.Val1842Glu) rs1555574400
NM_007294.4(BRCA1):c.5558A>G (p.Tyr1853Cys) rs80357258
NM_007294.4(BRCA1):c.5564del (p.Ile1855fs) rs1555574355
NM_007294.4(BRCA1):c.5578dup (p.His1860fs) rs397507254
NM_007294.4(BRCA1):c.626del (p.Pro209fs) rs886040920
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser) rs80357438
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr) rs431825419
NM_007294.4(BRCA1):c.671-1G>C rs80358020
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) rs80357410
NM_007294.4(BRCA1):c.71G>A (p.Cys24Tyr) rs80357198
NM_007294.4(BRCA1):c.80+5G>A rs80358045
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro) rs80357266
NM_007315.4(STAT1):c.1168A>G (p.Met390Val) rs1574648919
NM_007315.4(STAT1):c.1169T>G (p.Met390Arg) rs1553494436
NM_007315.4(STAT1):c.629G>A (p.Arg210Lys) rs1693996119
NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) rs1574657750
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr) rs1057521721
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys) rs2045826576
NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met) rs780680047
NM_007325.5(GRIA3):c.2452G>A (p.Ala818Thr) rs767370756
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln) rs1554770044
NM_007327.4(GRIN1):c.1910C>T (p.Ala637Val) rs1554770221
NM_007327.4(GRIN1):c.1974C>G (p.Asp658Glu) rs1064795712
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu) rs1328780843
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val) rs1554770589
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu) rs1833698535
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_007327.4(GRIN1):c.421G>A (p.Val141Met) rs1293947350
NM_007327.4(GRIN1):c.448G>A (p.Val150Met) rs1187375556
NM_007348.4(ATF6):c.1805-2A>C
NM_007373.4(SHOC2):c.517A>G (p.Met173Val) rs1057518206
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.806A>G (p.Gln269Arg) rs864309599
NM_007375.4(TARDBP):c.893G>T (p.Gly298Val) rs1643653768
NM_012062.5(DNM1L):c.25_28delinsCACT (p.Asn9_Lys10delinsHisTer) rs1555229978
NM_012079.6(DGAT1):c.1007TCT[2] (p.Phe338del) rs782575471
NM_012079.6(DGAT1):c.629_631del (p.Ser210del) rs782577883
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del) rs545551160
NM_012123.4(MTO1):c.1391G>T (p.Arg464Leu) rs141970072
NM_012144.4(DNAI1):c.1163G>A (p.Cys388Tyr) rs767667443
NM_012144.4(DNAI1):c.1216G>A (p.Gly406Ser) rs769177784
NM_012144.4(DNAI1):c.1676G>A (p.Cys559Tyr) rs1335386227
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) rs755377651
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met) rs2148725999
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012199.5(AGO1):c.566C>T (p.Pro189Leu) rs1553154069
NM_012203.2(GRHPR):c.160G>A (p.Gly54Ser)
NM_012203.2(GRHPR):c.181G>A (p.Asp61Asn)
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs) rs1554749639
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr) rs200632069
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs) rs1554749672
NM_012208.4(HARS2):c.1403G>C (p.Gly468Ala) rs748402163
NM_012208.4(HARS2):c.389A>G (p.Tyr130Cys) rs763261995
NM_012233.3(RAB3GAP1):c.258_261del (p.Gly88fs)
NM_012243.3(SLC35A3):c.826_827del (p.Leu276fs)
NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp) rs369787039
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_013247.5(HTRA2):c.1318C>T (p.Gln440Ter)
NM_013254.4(TBK1):c.1760+4_1760+7del rs753802322
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del) rs748007618
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys) rs2033533123
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter) rs2033085976
NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp) rs1597389370
NM_013328.4(PYCR2):c.529G>A (p.Gly177Arg) rs1239964151
NM_013328.4(PYCR2):c.596G>A (p.Arg199Gln)
NM_013328.4(PYCR2):c.647T>G (p.Met216Arg)
NM_013339.4(ALG6):c.1390C>T (p.Gln464Ter) rs1553157428
NM_013339.4(ALG6):c.908_910del (p.Cys303del) rs1057517952
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.559C>T (p.Leu187Phe) rs398124265
NM_013432.5(TONSL):c.1837G>T (p.Val613Leu) rs778625348
NM_013432.5(TONSL):c.329G>A (p.Trp110Ter) rs1002531030
NM_013432.5(TONSL):c.866-1G>C rs1424148372
NM_013438.5(UBQLN1):c.377del (p.Asn126fs) rs1060499753
NM_013450.4(BAZ2B):c.2105dup (p.Ser703fs)
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter) rs202005455
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014009.4(FOXP3):c.970T>C (p.Phe324Leu) rs122467173
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser) rs2063893838
NM_014023.4(WDR37):c.344C>T (p.Thr115Ile) rs1833994284
NM_014049.5(ACAD9):c.1241G>A (p.Arg414His) rs1935884990
NM_014049.5(ACAD9):c.1622A>G (p.Tyr541Cys)
NM_014049.5(ACAD9):c.1798_1801del (p.Lys600fs) rs917547961
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile) rs1665113651
NM_014053.4(FLVCR1):c.1593+5_1593+8del rs771159212
NM_014055.4(IFT81):c.134T>C (p.Ile45Thr) rs1227213671
NM_014112.5(TRPS1):c.2732A>G (p.Asn911Ser) rs1554617580
NM_014141.6(CNTNAP2):c.682G>A (p.Gly228Arg) rs371512835
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala) rs1057518487
NM_014225.6(PPP2R1A):c.275C>T (p.Pro92Leu) rs950558629
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) rs2089686081
NM_014233.4(UBTF):c.2164G>T (p.Asp722Tyr) rs483352703
NM_014249.4(NR2E3):c.1154G>C (p.Arg385Pro)
NM_014249.4(NR2E3):c.223G>T (p.Val75Leu) rs750284532
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys) rs775720634
NM_014249.4(NR2E3):c.767C>T (p.Ala256Val) rs377257254
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014270.5(SLC7A9):c.1399+4_1399+7del rs747593886
NM_014270.5(SLC7A9):c.217G>A (p.Gly73Arg)
NM_014270.5(SLC7A9):c.878T>C (p.Phe293Ser)
NM_014297.5(ETHE1):c.587A>T (p.Asp196Val) rs1008232313
NM_014305.4(TGDS):c.270_271del (p.Lys91fs) rs727502809
NM_014314.4(RIGI):c.2660T>C (p.Ile887Thr) rs1064795754
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser) rs1555249106
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
NM_014363.6(SACS):c.4747C>A (p.Pro1583Thr) rs1566068552
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys) rs779385985
NM_014423.4(AFF4):c.773G>A (p.Arg258Gln) rs2150098310
NM_014425.5(INVS):c.875C>T (p.Pro292Leu) rs1831916010
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014516.4(CNOT3):c.311G>A (p.Ser104Asn)
NM_014516.4(CNOT3):c.732dup (p.Ser245fs) rs753475896
NM_014585.6(SLC40A1):c.238G>T (p.Gly80Cys)
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014625.4(NPHS2):c.883G>A (p.Ala295Thr)
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter) rs763818901
NM_014625.4(NPHS2):c.965G>A (p.Arg322Gln) rs776859868
NM_014712.3(SETD1A):c.2665C>T (p.Arg889Trp)
NM_014714.4(IFT140):c.2767_2768+2del rs769075694
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014727.3(KMT2B):c.4949C>T (p.Thr1650Met) rs1555731828
NM_014727.3(KMT2B):c.5114G>A (p.Arg1705Gln) rs1555731980
NM_014795.4(ZEB2):c.3047G>A (p.Arg1016Gln) rs2149875484
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp) rs1703292916
NM_014845.6(FIG4):c.2433AGA[2] (p.Glu813del) rs876661144
NM_014874.4(MFN2):c.1085C>G (p.Thr362Arg) rs387906991
NM_014874.4(MFN2):c.239G>T (p.Gly80Val) rs139827903
NM_014874.4(MFN2):c.272T>G (p.Val91Gly) rs1569816262
NM_014874.4(MFN2):c.392A>G (p.Asn131Ser) rs776404901
NM_014874.4(MFN2):c.775C>T (p.Arg259Cys) rs587777875
NM_014915.3(ANKRD26):c.-118C>G rs1589393759
NM_014915.3(ANKRD26):c.-119C>G rs1554800065
NM_014946.4(SPAST):c.1173G>A (p.Leu391=) rs1679218212
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.4(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.4(SPAST):c.1536G>A (p.Glu512=) rs1553319093
NM_014946.4(SPAST):c.1537-11A>G rs549538513
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.4(SPAST):c.1762T>C (p.Ser588Pro) rs1131691972
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014956.5(CEP164):c.347del (p.Lys116fs) rs751277203
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs) rs756288878
NM_014967.5(FAN1):c.2854C>T (p.Arg952Ter)
NM_014975.3(MAST1):c.1565G>A (p.Gly522Glu) rs1323140691
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu) rs878853165
NM_014989.7(RIMS1):c.3194+1G>A rs1057519205
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp) rs1131692269
NM_015021.3(ZNF292):c.7003C>T (p.Arg2335Ter) rs1168689294
NM_015046.7(SETX):c.7121_7122del (p.Val2374fs) rs765371601
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg) rs1553252938
NM_015047.3(EMC1):c.2300G>T (p.Gly767Val)
NM_015047.3(EMC1):c.2858T>C (p.Phe953Ser) rs1267383375
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys) rs1779473213
NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys) rs1783517622
NM_015107.3(PHF8):c.1731-1G>C
NM_015139.3(SLC35D1):c.398C>T (p.Pro133Leu) rs1558168052
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015175.3(NBEAL2):c.5935C>T (p.Arg1979Trp) rs771025246
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly) rs1811011518
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter) rs1585190351
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys) rs879253864
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015275.3(WASHC4):c.3041A>G (p.Tyr1014Cys) rs768574664
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter) rs1568191596
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter) rs386834005
NM_015295.3(SMCHD1):c.1655G>A (p.Arg552Gln) rs886042392
NM_015311.3(OBSL1):c.1534+5G>C rs775172922
NM_015311.3(OBSL1):c.3402del (p.Thr1135fs) rs1449351602
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs) rs1434485676
NM_015335.5(MED13L):c.2333C>T (p.Ala778Val) rs1555247422
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys) rs2137290227
NM_015346.4(ZFYVE26):c.6738GAA[2] (p.Lys2248del) rs764479245
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015441.3(OLFML2B):c.1544G>A (p.Gly515Glu)
NM_015441.3(OLFML2B):c.1580G>A (p.Arg527Gln)
NM_015447.4(CAMSAP1):c.2638C>T (p.Gln880Ter)
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs) rs1562972380
NM_015466.4(PTPN23):c.3886_3888del (p.Lys1296del) rs751809435
NM_015466.4(PTPN23):c.4651_4652dup (p.Leu1552fs) rs1576235873
NM_015474.4(SAMHD1):c.410A>G (p.Asp137Gly)
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.544T>C (p.Cys182Arg) rs955468279
NM_015506.3(MMACHC):c.561_572del (p.Asp188_Ala191del) rs1553162937
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.712C>T (p.Gln238Ter)
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del) rs753855245
NM_015506.3(MMACHC):c.82-11_82-8del rs751236442
NM_015557.3(CHD5):c.3250G>A (p.Asp1084Asn) rs760743983
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1]) rs1789934246
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter) rs1786845541
NM_015629.4(PRPF31):c.1146+2T>G rs2073971890
NM_015629.4(PRPF31):c.682G>C (p.Ala228Pro) rs2146421585
NM_015629.4(PRPF31):c.912_914dup (p.Val305dup) rs2073927586
NM_015634.4(KIFBP):c.1083dup (p.Ala362fs) rs769950460
NM_015634.4(KIFBP):c.1516dup (p.Ile506fs) rs781469363
NM_015693.4(INTU):c.310del (p.Arg104fs)
NM_015702.3(MMADHC):c.702dup (p.Gly235fs) rs1682617973
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly) rs1408840913
NM_015713.5(RRM2B):c.122G>A (p.Arg41Gln) rs200273673
NM_015713.5(RRM2B):c.122G>C (p.Arg41Pro) rs200273673
NM_015713.5(RRM2B):c.1A>G (p.Met1Val) rs772913758
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser) rs863224193
NM_015713.5(RRM2B):c.674_675delinsAT (p.Ser225Asn) rs2132549396
NM_015713.5(RRM2B):c.790-2A>G rs1441534206
NM_015713.5(RRM2B):c.98C>A (p.Pro33Gln)
NM_015836.4(WARS2):c.161G>A (p.Gly54Glu)
NM_015836.4(WARS2):c.797del (p.Pro266fs) rs746478253
NM_015909.4(NBAS):c.2570C>T (p.Ala857Val)
NM_015909.4(NBAS):c.646A>C (p.Ser216Arg) rs1663516243
NM_015909.4(NBAS):c.7041_7043del (p.Leu2348del) rs1485416933
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala) rs1555365509
NM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr) rs864622083
NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu) rs1555365850
NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu)
NM_015915.5(ATL1):c.1244G>A (p.Arg415Gln) rs397514712
NM_015915.5(ATL1):c.1306A>G (p.Asn436Asp) rs2140239163
NM_015915.5(ATL1):c.458G>C (p.Ser153Thr)
NM_015915.5(ATL1):c.740A>G (p.His247Arg) rs2140226883
NM_015915.5(ATL1):c.781_782insA (p.Phe261fs) rs1181733510
NM_015922.3(NSDHL):c.727G>A (p.Val243Met) rs587784224
NM_015937.6(PIGT):c.1595C>T (p.Thr532Met) rs1466637488
NM_015949.3(GET4):c.837A>G (p.Ile279Met) rs1844404490
NM_015981.4(CAMK2A):c.329C>T (p.Ala110Val) rs779607303
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)
NM_016008.4(DYNC2LI1):c.394C>A (p.Gln132Lys) rs76483206
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn) rs2124105757
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu) rs772721937
NM_016111.4(TELO2):c.2291+1G>A rs76038845
NM_016180.5(SLC45A2):c.1519G>C (p.Val507Leu) rs3733808
NM_016180.5(SLC45A2):c.471C>G (p.Asp157Glu)
NM_016180.5(SLC45A2):c.497A>G (p.Tyr166Cys)
NM_016180.5(SLC45A2):c.686G>A (p.Cys229Tyr)
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg) rs2131330754
NM_016188.5(ACTL6B):c.695del (p.Pro232fs) rs779550102
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
NM_016222.4(DDX41):c.1018T>A (p.Tyr340Asn)
NM_016222.4(DDX41):c.1030G>T (p.Asp344Tyr)
NM_016222.4(DDX41):c.1046T>A (p.Met349Lys)
NM_016222.4(DDX41):c.1334_1336del (p.Val445del) rs2127436133
NM_016222.4(DDX41):c.571G>A (p.Ala191Thr) rs2127437490
NM_016222.4(DDX41):c.655C>T (p.Arg219Cys)
NM_016222.4(DDX41):c.809C>T (p.Ala270Val)
NM_016222.4(DDX41):c.986AGA[2] (p.Lys331del)
NM_016239.4(MYO15A):c.2384dup (p.Ser796fs) rs1567624190
NM_016239.4(MYO15A):c.3926A>T (p.Gln1309Leu) rs777366131
NM_016239.4(MYO15A):c.4072G>A (p.Gly1358Ser)
NM_016239.4(MYO15A):c.5036G>A (p.Cys1679Tyr) rs2142328201
NM_016239.4(MYO15A):c.5504G>T (p.Arg1835Leu) rs752816535
NM_016239.4(MYO15A):c.6004del (p.Glu2002fs)
NM_016239.4(MYO15A):c.6620C>T (p.Pro2207Leu) rs876657903
NM_016239.4(MYO15A):c.6716A>C (p.His2239Pro) rs760577812
NM_016239.4(MYO15A):c.6845A>G (p.Tyr2282Cys)
NM_016239.4(MYO15A):c.8147A>G (p.Gln2716Arg) rs756607995
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_016247.4(IMPG2):c.3423-7_3423-4del rs534452999
NM_016247.4(IMPG2):c.3713+5G>A rs1706250496
NM_016247.4(IMPG2):c.727G>C (p.Ala243Pro) rs1706811719
NM_016327.3(UPB1):c.1034A>T (p.Asn345Ile) rs1012254852
NM_016327.3(UPB1):c.792C>A (p.Ser264Arg) rs145766755
NM_016335.6(PRODH):c.1576C>T (p.Gln526Ter) rs372187772
NM_016341.4(PLCE1):c.6901C>T (p.Arg2301Ter) rs1193230553
NM_016373.4(WWOX):c.1114G>T (p.Gly372Ter) rs587777127
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) rs1484856529
NM_016373.4(WWOX):c.1204G>T (p.Glu402Ter) rs200839945
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016519.6(AMBN):c.571-1G>C
NM_016532.4(INPP5K):c.302T>C (p.Phe101Ser) rs2075263105
NM_016532.4(INPP5K):c.881_883del (p.Ser294del) rs765015650
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_016628.5(WAC):c.381+4_381+7del rs1564400647
NM_016955.4(SEPSECS):c.114+3A>G
NM_016955.4(SEPSECS):c.1178C>T (p.Ser393Leu)
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln) rs1561586322
NM_017433.5(MYO3A):c.1359+1G>T rs756836048
NM_017534.6(MYH2):c.1792G>A (p.Glu598Lys) rs1555571267
NM_017547.4(FOXRED1):c.239A>G (p.Tyr80Cys) rs863224019
NM_017547.4(FOXRED1):c.682C>T (p.Arg228Trp) rs758966293
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.4(DONSON):c.786-22A>G rs1135401960
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.2153A>G (p.Asn718Ser) rs1843232044
NM_017617.5(NOTCH1):c.428C>T (p.Pro143Leu) rs1228192276
NM_017635.5(KMT5B):c.2597_2598del (p.Ser866fs) rs888239971
NM_017636.4(TRPM4):c.269TCC[1] (p.Leu91del) rs752261543
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017654.4(SAMD9):c.2419G>A (p.Val807Ile) rs1554337067
NM_017654.4(SAMD9):c.4198C>T (p.Pro1400Ser) rs1584251663
NM_017662.5(TRPM6):c.2998dup (p.Ser1000fs)
NM_017696.3(MCM9):c.1742G>A (p.Arg581His)
NM_017739.4(POMGNT1):c.1286G>A (p.Gly429Glu)
NM_017739.4(POMGNT1):c.1832T>C (p.Leu611Pro) rs1352149832
NM_017763.6(RNF43):c.1207C>T (p.Gln403Ter)
NM_017763.6(RNF43):c.1976dup (p.Pro660fs) rs755128667
NM_017780.4(CHD7):c.3248C>T (p.Thr1083Ile) rs1804154342
NM_017780.4(CHD7):c.3752G>A (p.Cys1251Tyr)
NM_017780.4(CHD7):c.4406A>G (p.Tyr1469Cys) rs2150779357
NM_017780.4(CHD7):c.7312C>G (p.Gln2438Glu) rs1060503188
NM_017791.3(FLVCR2):c.998G>A (p.Arg333His) rs757778790
NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs) rs568247949
NM_017825.3(ADPRS):c.1038C>G (p.Tyr346Ter) rs531916765
NM_017837.4(PIGV):c.198G>A (p.Trp66Ter)
NM_017841.4(SDHAF2):c.355dup (p.Tyr119fs) rs1456129845
NM_017866.6(TMEM70):c.720_723del (p.Glu241fs) rs746973761
NM_017882.3(CLN6):c.368G>A (p.Gly123Asp) rs104894484
NM_017882.3(CLN6):c.437T>C (p.Leu146Pro) rs1595818249
NM_017882.3(CLN6):c.662A>G (p.Tyr221Cys) rs764571295
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del) rs768422260
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs) rs1427643616
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser) rs115079861
NM_017909.4(RMND1):c.729+1_729+2del
NM_017934.7(PHIP):c.2854C>T (p.Arg952Ter)
NM_017934.7(PHIP):c.5317C>T (p.Arg1773Ter) rs1554193405
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.1142G>A (p.Gly381Glu) rs774047684
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del) rs762710723
NM_018052.5(VAC14):c.947-2A>G
NM_018055.5(NODAL):c.2T>C (p.Met1Thr)
NM_018060.4(IARS2):c.986T>C (p.Leu329Pro)
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs) rs750871999
NM_018075.5(ANO10):c.132dup (p.Asp45fs) rs540331226
NM_018082.6(POLR3B):c.1939G>A (p.Glu647Lys) rs755658678
NM_018082.6(POLR3B):c.2099A>C (p.Asn700Thr) rs2037839447
NM_018082.6(POLR3B):c.2570+5G>A
NM_018082.6(POLR3B):c.986G>A (p.Arg329Gln)
NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) rs1586459413
NM_018116.4(MSTO1):c.716C>A (p.Ser239Tyr)
NM_018122.5(DARS2):c.1762C>G (p.Leu588Val) rs972404343
NM_018122.5(DARS2):c.505C>T (p.Leu169Phe) rs1064794825
NM_018122.5(DARS2):c.749T>C (p.Leu250Pro) rs778283912
NM_018129.4(PNPO):c.700C>T (p.Arg234Trp) rs368943864
NM_018130.3(SHQ1):c.828_831del (p.Asp277fs) rs571329853
NM_018161.5(NADSYN1):c.1765-7T>A
NM_018249.6(CDK5RAP2):c.2203-2A>T
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_018319.4(TDP1):c.341_342del (p.Lys114fs) rs769278668
NM_018344.6(SLC29A3):c.1350_1354del (p.Val451fs)
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655
NM_018486.3(HDAC8):c.1112-2A>G rs1131690790
NM_018486.3(HDAC8):c.667C>T (p.Arg223Trp) rs1556007534
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp) rs1555933616
NM_018684.4(ZC4H2):c.638G>A (p.Arg213Gln) rs2147345630
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr) rs770740586
NM_018718.3(CEP41):c.423-2A>G rs781815473
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018947.6(CYCS):c.79C>T (p.His27Tyr) rs1783403912
NM_018972.4(GDAP1):c.193G>A (p.Glu65Lys) rs1808862287
NM_018972.4(GDAP1):c.194A>G (p.Glu65Gly) rs2131496131
NM_018972.4(GDAP1):c.482G>A (p.Arg161His) rs104894076
NM_018972.4(GDAP1):c.571C>T (p.Arg191Ter) rs1554547986
NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly) rs150989205
NM_018972.4(GDAP1):c.818G>A (p.Arg273Gln) rs879254192
NM_018979.4(WNK1):c.5448+1G>T
NM_019098.5(CNGB3):c.2301_2304dup (p.Ser769fs) rs199570140
NM_019108.4(SMG9):c.701+4A>G rs869312742
NM_019109.5(ALG1):c.1057T>G (p.Tyr353Asp) rs1596259672
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg) rs1057520122
NM_019109.5(ALG1):c.1162C>T (p.Pro388Ser) rs398124349
NM_019109.5(ALG1):c.212C>G (p.Ser71Cys)
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup) rs1436106795
NM_019109.5(ALG1):c.434G>A (p.Gly145Asp) rs387906926
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.581G>A (p.Gly194Asp)
NM_019616.4(F7):c.685G>A (p.Ala229Thr)
NM_019616.4(F7):c.686C>T (p.Ala229Val)
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019888.3(MC3R):c.892_893delinsTC (p.Ile298Ser) rs2146061616
NM_020117.11(LARS1):c.1283C>T (p.Pro428Leu)
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) rs398124352
NM_020166.5(MCCC1):c.1681+2dup
NM_020166.5(MCCC1):c.2123dup (p.His708fs) rs1404350628
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys) rs1717925328
NM_020207.7(ERCC6L2):c.1111C>T (p.Arg371Cys)
NM_020223.4(FAM20C):c.1487C>T (p.Pro496Leu)
NM_020247.5(COQ8A):c.1805C>A (p.Pro602Gln) rs61995958
NM_020247.5(COQ8A):c.1805C>T (p.Pro602Leu) rs61995958
NM_020320.5(RARS2):c.-2A>G rs201150141
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
NM_020338.4(ZMIZ1):c.859G>A (p.Ala287Thr) rs1472883107
NM_020365.5(EIF2B3):c.32G>T (p.Gly11Val) rs754415797
NM_020366.4(RPGRIP1):c.2367+23del rs781728563
NM_020366.4(RPGRIP1):c.3100-1G>A
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser) rs557878787
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter) rs765874503
NM_020435.4(GJC2):c.118G>C (p.Ala40Pro) rs1302747902
NM_020435.4(GJC2):c.716T>C (p.Val239Ala)
NM_020435.4(GJC2):c.733T>A (p.Cys245Ser) rs1571908056
NM_020435.4(GJC2):c.883C>T (p.Gln295Ter) rs1375875748
NM_020451.3(SELENON):c.1379C>T (p.Ser460Phe) rs767530943
NM_020451.3(SELENON):c.1602+1G>A rs751927853
NM_020451.3(SELENON):c.402_403+2del rs773670891
NM_020451.3(SELENON):c.873-2A>G rs1176143542
NM_020533.3(MCOLN1):c.1336G>A (p.Val446Met) rs754097561
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu) rs754097561
NM_020547.3(AMHR2):c.1024C>T (p.Arg342Trp)
NM_020686.6(ABAT):c.1004C>T (p.Thr335Met) rs2060222738
NM_020693.4(DSCAML1):c.1231G>A (p.Val411Ile) rs759222737
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1]) rs1398218251
NM_020719.3(PRR12):c.3625C>T (p.Arg1209Ter) rs2122304074
NM_020719.3(PRR12):c.5187del (p.Glu1730fs) rs1568430264
NM_020745.4(AARS2):c.2728_2755del (p.Thr910fs) rs780343109
NM_020771.4(HACE1):c.2552dup (p.Gly852fs) rs745394044
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_020778.5(ALPK3):c.135_143+12del
NM_020778.5(ALPK3):c.3965+2T>C
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs) rs755184077
NM_020822.3(KCNT1):c.108del (p.Arg37fs)
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) rs200694691
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
NM_020822.3(KCNT1):c.742G>A (p.Ala248Thr)
NM_020832.3(ZNF687):c.2810C>G (p.Pro937Arg) rs148402804
NM_020964.3(EPG5):c.5713C>T (p.Arg1905Trp) rs759013844
NM_020964.3(EPG5):c.5943-9_5943-5del rs773330060
NM_020964.3(EPG5):c.6752del (p.Val2251fs) rs1057516194
NM_020975.6(RET):c.2136+2T>G
NM_020975.6(RET):c.443_445del (p.Ser148del)
NM_020975.6(RET):c.989G>A (p.Arg330Gln) rs80236571
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_020988.3(GNAO1):c.118G>C (p.Gly40Arg) rs886041715
NM_020988.3(GNAO1):c.448A>C (p.Asn150His) rs2037660713
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile) rs1297388989
NM_020988.3(GNAO1):c.617G>A (p.Arg206Gln)
NM_021008.4(DEAF1):c.646A>G (p.Lys216Glu) rs1590017652
NM_021008.4(DEAF1):c.661T>C (p.Ser221Pro) rs1860668289
NM_021096.4(CACNA1I):c.1184T>A (p.Val395Asp) rs2146426462
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His) rs767983680
NM_021098.3(CACNA1H):c.3248C>T (p.Thr1083Met) rs1064793076
NM_021615.5(CHST6):c.481G>C (p.Ala161Pro)
NM_021625.5(TRPV4):c.1303G>A (p.Glu435Lys) rs1890412444
NM_021625.5(TRPV4):c.2012T>C (p.Leu671Pro)
NM_021628.3(ALOXE3):c.842G>A (p.Gly281Asp) rs786205120
NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) rs1554887028
NM_021830.5(TWNK):c.1183T>C (p.Phe395Leu) rs1440229445
NM_021830.5(TWNK):c.1272C>G (p.Phe424Leu) rs773918715
NM_021870.3(FGG):c.1015A>C (p.Ser339Arg)
NM_021870.3(FGG):c.1086G>A (p.Met362Ile) rs2110841438
NM_021871.4(FGA):c.1718G>T (p.Arg573Leu) rs78506343
NM_021922.3(FANCE):c.2T>C (p.Met1Thr) rs1462766132
NM_021930.6(RINT1):c.1671_1671+2del rs869312981
NM_021930.6(RINT1):c.1887-4_1892del
NM_021939.4(FKBP10):c.1015C>T (p.Arg339Trp) rs377642451
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser) rs2141138001
NM_021954.4(GJA3):c.7G>C (p.Asp3His) rs864309694
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg) rs121918422
NM_021969.3(NR0B2):c.157_166del (p.His53fs) rs540387719
NM_022095.4(ZNF335):c.2442+1G>A
NM_022095.4(ZNF335):c.3158C>T (p.Pro1053Leu) rs768092083
NM_022114.4(PRDM16):c.3271C>T (p.Arg1091Ter)
NM_022124.6(CDH23):c.1025A>G (p.Asn342Ser)
NM_022124.6(CDH23):c.3220+1G>A rs1487026359
NM_022124.6(CDH23):c.3371T>G (p.Leu1124Arg) rs2132800007
NM_022124.6(CDH23):c.3575_3576delinsGT (p.Val1192Gly) rs1554862262
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn) rs121908351
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp) rs137937502
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=) rs542618168
NM_022124.6(CDH23):c.553G>A (p.Gly185Ser)
NM_022124.6(CDH23):c.5820+5G>A rs2132940635
NM_022124.6(CDH23):c.9058_9060del (p.Arg3020del) rs786205612
NM_022132.5(MCCC2):c.1567A>G (p.Ser523Gly) rs1459143051
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022132.5(MCCC2):c.632T>G (p.Val211Gly)
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_022168.4(IFIH1):c.1015G>A (p.Ala339Thr) rs1314541924
NM_022356.4(P3H1):c.2174_2177del (p.Leu725fs) rs1570452214
NM_022367.4(SEMA4A):c.1000del (p.Arg334fs) rs756475595
NM_022436.3(ABCG5):c.905-1G>C
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
NM_022437.3(ABCG8):c.3G>T (p.Met1Ile)
NM_022455.5(NSD1):c.3922-9T>A
NM_022455.5(NSD1):c.4786T>A (p.Cys1596Ser) rs1554199383
NM_022455.5(NSD1):c.5714G>C (p.Cys1905Ser) rs1554204110
NM_022455.5(NSD1):c.5741G>A (p.Arg1914His) rs587784155
NM_022455.5(NSD1):c.6086C>T (p.Thr2029Ile) rs587784181
NM_022455.5(NSD1):c.6173A>G (p.Tyr2058Cys) rs398124380
NM_022455.5(NSD1):c.6413G>A (p.Cys2138Tyr) rs587784195
NM_022455.5(NSD1):c.6463G>A (p.Gly2155Arg) rs1554206845
NM_022455.5(NSD1):c.6500G>A (p.Cys2167Tyr) rs587784205
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys) rs147828672
NM_022552.5(DNMT3A):c.994G>A (p.Gly332Arg) rs760854242
NM_022575.4(VPS16):c.1939C>T (p.Arg647Ter) rs374914263
NM_022726.4(ELOVL4):c.698C>T (p.Thr233Met) rs1554162016
NM_022765.4(MICAL1):c.2291_2300del (p.Gly764fs) rs1447618526
NM_022772.4(EPS8L2):c.1017C>G (p.Ser339Arg)
NM_022773.4(LMF1):c.1024C>T (p.Arg342Ter)
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter) rs2072617381
NM_022787.4(NMNAT1):c.752A>C (p.His251Pro) rs1208495291
NM_022893.4(BCL11A):c.1675A>G (p.Ser559Gly) rs2103836035
NM_023036.6(DNAI2):c.1288G>A (p.Gly430Arg)
NM_023036.6(DNAI2):c.701G>A (p.Gly234Asp) rs897911822
NM_023067.4(FOXL2):c.313_315del (p.Asn105del) rs1057516154
NM_023067.4(FOXL2):c.389T>C (p.Leu130Pro) rs1057516160
NM_023110.3(FGFR1):c.2153G>A (p.Arg718His) rs1415925468
NM_023110.3(FGFR1):c.677G>A (p.Gly226Asp) rs1246231808
NM_024079.5(ALG8):c.856T>G (p.Trp286Gly) rs794727931
NM_024105.4(ALG12):c.200C>T (p.Thr67Met) rs121907931
NM_024120.5(NDUFAF5):c.718-1G>A rs1359810808
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter) rs2076453599
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) rs1450841129
NM_024306.5(FA2H):c.103G>T (p.Asp35Tyr) rs121918217
NM_024306.5(FA2H):c.139G>A (p.Glu47Lys) rs1057518032
NM_024306.5(FA2H):c.688G>A (p.Glu230Lys)
NM_024312.5(GNPTAB):c.569A>T (p.Asp190Val) rs34946266
NM_024334.3(TMEM43):c.1072T>C (p.Ser358Pro) rs1559363695
NM_024411.5(PDYN):c.658_659del (p.Trp220fs) rs748307861
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) rs752675360
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024422.6(DSC2):c.2398del (p.Ala800fs) rs397517399
NM_024422.6(DSC2):c.2477G>A (p.Trp826Ter)
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024426.6(WT1):c.649A>G (p.Ile217Val) rs1384974578
NM_024496.4(IRF2BPL):c.519C>G (p.Tyr173Ter) rs1555377415
NM_024528.4(NKAP):c.989G>A (p.Arg330His) rs1603379780
NM_024537.4(CARS2):c.323T>G (p.Phe108Cys) rs201577762
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_024577.4(SH3TC2):c.748_750del (p.Tyr250del) rs1064795016
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721
NM_024596.5(MCPH1):c.2453-1G>C rs587783739
NM_024598.4(USB1):c.518T>G (p.Leu173Arg) rs1555498563
NM_024642.5(GALNT12):c.2T>C (p.Met1Thr) rs1005081558
NM_024642.5(GALNT12):c.710G>A (p.Trp237Ter)
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) rs767150997
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) rs863224782
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) rs1450045618
NM_024665.7(TBL1XR1):c.86G>A (p.Gly29Asp) rs879255421
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala) rs2108437312
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024675.4(PALB2):c.104T>C (p.Leu35Pro) rs141047069
NM_024675.4(PALB2):c.1684+1G>A rs1555461148
NM_024675.4(PALB2):c.1685-1G>A rs1057520645
NM_024675.4(PALB2):c.1685-1G>C rs1057520645
NM_024675.4(PALB2):c.212-1G>A rs1597099910
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.2587-2A>C rs1060502787
NM_024675.4(PALB2):c.2768T>G (p.Val923Gly) rs1597082876
NM_024675.4(PALB2):c.2996+5G>T rs879254193
NM_024675.4(PALB2):c.2997-1G>A rs754465466
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu) rs1555461835
NM_024675.4(PALB2):c.3201+1G>C rs587776423
NM_024675.4(PALB2):c.3201G>A (p.Met1067Ile) rs1555458809
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.49-1G>A rs1440838364
NM_024675.4(PALB2):c.49-2A>G
NM_024675.4(PALB2):c.49-2A>T rs786203245
NM_024685.4(BBS10):c.1010AAG[1] (p.Glu338del) rs750611000
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
NM_024685.4(BBS10):c.1250C>T (p.Ala417Val) rs537219462
NM_024685.4(BBS10):c.1949del (p.Gly650fs) rs769028262
NM_024685.4(BBS10):c.414del (p.Gln139fs) rs1555202717
NM_024685.4(BBS10):c.590A>G (p.Tyr197Cys) rs756632517
NM_024685.4(BBS10):c.745_746insTA (p.Arg249fs) rs1555202687
NM_024747.6(HPS6):c.238dup (p.Asp80fs) rs281865108
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) rs2132793967
NM_024757.5(EHMT1):c.3578G>A (p.Gly1193Glu) rs1956451830
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024876.4(COQ8B):c.748G>C (p.Asp250His) rs769834604
NM_024915.4(GRHL2):c.21-2A>G rs1811191593
NM_024996.7(GFM1):c.248A>T (p.Asp83Val) rs1576721522
NM_024996.7(GFM1):c.573-1G>C rs2108009356
NM_024996.7(GFM1):c.749G>A (p.Arg250Gln) rs752251570
NM_024996.7(GFM1):c.829dup (p.Ser277fs) rs771865940
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter) rs756005814
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025103.4(IFT74):c.305+1G>A
NM_025114.4(CEP290):c.6447del (p.Glu2149fs) rs1157238971
NM_025136.4(OPA3):c.244G>T (p.Glu82Ter)
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) rs1057518874
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506
NM_025150.5(TARS2):c.1026G>C (p.Glu342Asp)
NM_025150.5(TARS2):c.774+5G>T
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter) rs560987504
NM_025233.7(COASY):c.215A>G (p.Tyr72Cys)
NM_025243.4(SLC19A3):c.157A>G (p.Asn53Asp)
NM_025243.4(SLC19A3):c.464C>T (p.Ser155Leu) rs1131691615
NM_025243.4(SLC19A3):c.503_505del (p.Ser168del) rs763130915
NM_025243.4(SLC19A3):c.548C>T (p.Ala183Val) rs199970847
NM_030632.3(ASXL3):c.6110del (p.Pro2037fs) rs747712363
NM_030653.4(DDX11):c.1060G>A (p.Gly354Arg) rs71230307
NM_030662.4(MAP2K2):c.183A>T (p.Lys61Asn) rs886041310
NM_030665.4(RAI1):c.3440G>A (p.Arg1147Gln)
NM_030773.4(TUBB1):c.229C>T (p.Arg77Ter) rs767380935
NM_030773.4(TUBB1):c.230G>A (p.Arg77Gln) rs572988631
NM_030773.4(TUBB1):c.745G>C (p.Asp249His) rs2091981798
NM_030773.4(TUBB1):c.844C>T (p.Arg282Ter)
NM_030777.4(SLC2A10):c.254T>C (p.Leu85Pro) rs754120063
NM_030940.4(ISCA1):c.259G>A (p.Glu87Lys) rs776679653
NM_030957.4(ADAMTS10):c.698G>A (p.Arg233Gln)
NM_030962.4(SBF2):c.2476G>A (p.Val826Ile) rs1564917788
NM_030973.4(MED25):c.1795_1803del (p.Ser599_Ala601del) rs764613506
NM_031263.4(HNRNPK):c.253G>A (p.Glu85Lys) rs1554700678
NM_031296.3(RAB33B):c.365T>C (p.Phe122Ser) rs1085307129
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031418.4(ANO3):c.1699G>A (p.Gly567Arg) rs2132929609
NM_031844.3(HNRNPU):c.669_691+32del
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_031885.5(BBS2):c.653G>A (p.Gly218Asp)
NM_032043.3(BRIP1):c.1140+3del rs2145331108
NM_032043.3(BRIP1):c.1340+5G>C rs869312791
NM_032043.3(BRIP1):c.1341-3C>G rs864622597
NM_032043.3(BRIP1):c.1473+4_1473+8del rs730881650
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1_2del (p.Met1fs) rs876661246
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs) rs1295703239
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs) rs774684620
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs) rs786203717
NM_032043.3(BRIP1):c.3125_3128dup (p.Ser1043fs) rs2061318885
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs) rs779741278
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs) rs756853672
NM_032043.3(BRIP1):c.3440dup (p.Asn1147fs) rs753683450
NM_032043.3(BRIP1):c.93+4_93+7del rs1224034842
NM_032043.3(BRIP1):c.93+5G>A rs730881629
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032119.4(ADGRV1):c.15980TCT[1] (p.Phe5328del) rs766355750
NM_032119.4(ADGRV1):c.3G>A (p.Met1Ile)
NM_032119.4(ADGRV1):c.8286+4A>G rs1343614760
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met) rs772757667
NM_032193.4(RNASEH2C):c.61_84del (p.Arg22_Leu29del) rs1565213769
NM_032271.3(TRAF7):c.1798G>A (p.Gly600Ser) rs2141298527
NM_032353.4(VPS25):c.22C>T (p.Pro8Ser)
NM_032380.5(GFM2):c.883del (p.Val295fs)
NM_032415.7(CARD11):c.224G>A (p.Arg75Gln) rs1064795280
NM_032444.4(SLX4):c.4823C>G (p.Ser1608Ter) rs200628199
NM_032485.6(MCM8):c.1033C>T (p.Arg345Ter) rs757546009
NM_032492.4(JAGN1):c.40G>A (p.Gly14Ser) rs786205704
NM_032520.5(GNPTG):c.29T>A (p.Leu10Ter) rs1555450681
NM_032520.5(GNPTG):c.685del (p.Gln229fs) rs772287534
NM_032536.4(NTNG2):c.858-13G>A rs1840794100
NM_032578.4(MYPN):c.935C>T (p.Ser312Phe) rs786205457
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032620.4(GTPBP3):c.1439T>A (p.Ile480Asn) rs558425417
NM_032632.5(PAPOLA):c.1464A>G (p.Val488=) rs483352759
NM_032730.5(RTN4IP1):c.890A>G (p.Tyr297Cys) rs749329916
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu) rs368625962
NM_032756.4(HPDL):c.816_817del (p.Val273fs) rs2149082140
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) rs774277094
NM_032833.5(PPP1R15B):c.1973G>A (p.Arg658His) rs759466766
NM_032856.5(WDR73):c.1132del (p.Arg378fs) rs747109506
NM_032861.4(SERAC1):c.1667T>A (p.Val556Asp)
NM_033028.5(BBS4):c.1107-10_1107-7del rs770577174
NM_033028.5(BBS4):c.864+1G>C rs2151047618
NM_033056.4(PCDH15):c.4368-3_4369dup rs866966373
NM_033056.4(PCDH15):c.5347_5363del (p.Pro1783fs) rs748086016
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs) rs1287068204
NM_033100.4(CDHR1):c.827G>A (p.Gly276Asp) rs1589300382
NM_033109.5(PNPT1):c.1453A>G (p.Met485Val) rs767310806
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu) rs2034823903
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) rs1182984115
NM_033360.4(KRAS):c.189G>T (p.Glu63Asp) rs1592808357
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033380.3(COL4A5):c.1033-6A>G rs869025330
NM_033380.3(COL4A5):c.1588-10C>G rs1603290097
NM_033380.3(COL4A5):c.2200G>A (p.Gly734Ser) rs867265684
NM_033380.3(COL4A5):c.2446C>T (p.Pro816Ser)
NM_033380.3(COL4A5):c.2767+4A>G
NM_033380.3(COL4A5):c.3116G>A (p.Gly1039Asp) rs1556421658
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_033380.3(COL4A5):c.4283G>A (p.Arg1428His) rs2068539626
NM_033380.3(COL4A5):c.476G>A (p.Gly159Asp) rs2147759208
NM_033380.3(COL4A5):c.687+5G>A rs1556405930
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_052845.4(MMAB):c.557G>A (p.Arg186Gln) rs773059864
NM_052859.4(RFT1):c.1154A>G (p.Asn385Ser)
NM_052867.4(NALCN):c.3064A>G (p.Ile1022Val) rs1555381108
NM_052867.4(NALCN):c.4004G>A (p.Ser1335Asn) rs2139471533
NM_052876.4(NACC1):c.71G>A (p.Arg24Gln)
NM_053025.4(MYLK):c.1321C>T (p.Pro441Ser) rs928811814
NM_053025.4(MYLK):c.4289-2A>C
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly) rs121908640
NM_054012.4(ASS1):c.262C>A (p.Leu88Ile) rs895822620
NM_054012.4(ASS1):c.379C>T (p.Arg127Trp) rs771794639
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_057175.5(NAA15):c.266T>C (p.Leu89Pro) rs1560965164
NM_058195.4(CDKN2A):c.58del (p.Arg19_Val20insTer) rs1563902931
NM_058195.4(CDKN2A):c.97dup (p.Glu33fs) rs779306249
NM_058216.3(RAD51C):c.388G>A (p.Gly130Arg) rs773293999
NM_058216.3(RAD51C):c.395C>G (p.Thr132Arg) rs730881930
NM_058216.3(RAD51C):c.485G>A (p.Gly162Glu) rs35151472
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn) rs755849719
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn) rs876659188
NM_058216.3(RAD51C):c.837+4_837+7del rs727503760
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg) rs1555602158
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly) rs730881932
NM_058246.4(DNAJB6):c.265T>C (p.Phe89Leu) rs387907150
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_078480.3(PUF60):c.1489ATC[1] (p.Ile498del) rs1064794916
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs) rs1816304706
NM_080605.4(B3GALT6):c.356TGC[5] (p.Leu122dup) rs755700896
NM_080605.4(B3GALT6):c.588dup (p.Arg197fs) rs533071750
NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs) rs1329926209
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_080680.3(COL11A2):c.1119+1G>C rs367706373
NM_080680.3(COL11A2):c.1179+1G>A
NM_080680.3(COL11A2):c.4438G>A (p.Gly1480Arg) rs1172866556
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_130768.3(ASZ1):c.460A>G (p.Met154Val)
NM_130797.4(DPP6):c.157_184del (p.Pro53fs) rs2129062565
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro) rs2064035939
NM_130837.3(OPA1):c.1055A>C (p.Gln352Pro) rs2109014902
NM_130837.3(OPA1):c.1174C>G (p.His392Asp) rs1553877591
NM_130837.3(OPA1):c.1202G>A (p.Arg401Gln) rs1180256773
NM_130837.3(OPA1):c.1466T>C (p.Leu489Pro) rs1553877946
NM_130837.3(OPA1):c.1498C>A (p.Arg500Ser) rs886043340
NM_130837.3(OPA1):c.1498C>T (p.Arg500Cys)
NM_130837.3(OPA1):c.1722AGA[1] (p.Glu576del) rs794727173
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.2126A>G (p.Asp709Gly) rs2109139343
NM_130837.3(OPA1):c.610+360G>A rs1553872542
NM_130839.5(UBE3A):c.1007T>C (p.Met336Thr) rs863225071
NM_130839.5(UBE3A):c.1742A>G (p.Asn581Ser) rs587784517
NM_130839.5(UBE3A):c.2609G>A (p.Gly870Asp) rs587784528
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133261.3(GIPC3):c.245A>G (p.Asn82Ser) rs747242422
NM_133261.3(GIPC3):c.85del (p.Ala29fs)
NM_133433.4(NIPBL):c.3855+5G>A rs80358378
NM_133433.4(NIPBL):c.4439T>G (p.Met1480Arg) rs587783948
NM_133433.4(NIPBL):c.5366G>A (p.Arg1789Gln) rs80358380
NM_133433.4(NIPBL):c.6068A>G (p.His2023Arg) rs587783991
NM_133433.4(NIPBL):c.6316G>T (p.Val2106Leu)
NM_133433.4(NIPBL):c.64+5G>A rs587784011
NM_133433.4(NIPBL):c.6646T>C (p.Tyr2216His) rs587784020
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile) rs587784023
NM_133433.4(NIPBL):c.7208G>A (p.Arg2403His)
NM_133443.4(GPT2):c.1172C>T (p.Pro391Leu) rs140993544
NM_133443.4(GPT2):c.1441G>A (p.Gly481Ser) rs745565332
NM_133459.4(CCBE1):c.213-1G>A rs201030273
NM_133497.4(KCNV2):c.1015G>A (p.Asp339Asn)
NM_133497.4(KCNV2):c.1381G>T (p.Gly461Ter) rs149648640
NM_133497.4(KCNV2):c.448TTC[1] (p.Phe151del) rs766549271
NM_134261.3(RORA):c.1447C>T (p.Arg483Ter) rs2065199547
NM_138295.5(PKD1L1):c.2620C>T (p.Arg874Trp)
NM_138376.3(TTC5):c.418C>T (p.Gln140Ter)
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp) rs753688777
NM_138395.4(MARS2):c.872del (p.Gly291fs) rs1340079929
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val) rs772722925
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg) rs764396564
NM_138413.4(HOGA1):c.580G>A (p.Gly194Ser)
NM_138413.4(HOGA1):c.845G>A (p.Arg282His)
NM_138413.4(HOGA1):c.908G>A (p.Arg303His)
NM_138459.5(NUS1):c.869G>A (p.Arg290His) rs886037858
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
NM_138576.4(BCL11B):c.1097G>A (p.Arg366Gln) rs1566794698
NM_138576.4(BCL11B):c.1904_1939del (p.Asp635_Gly646del)
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn) rs2139752892
NM_138694.4(PKHD1):c.10414T>G (p.Cys3472Gly) rs1772510920
NM_138694.4(PKHD1):c.1116C>G (p.Phe372Leu) rs1582038191
NM_138694.4(PKHD1):c.11218C>T (p.Pro3740Ser) rs1554176504
NM_138694.4(PKHD1):c.11237T>C (p.Leu3746Pro) rs1320401077
NM_138694.4(PKHD1):c.11425G>A (p.Gly3809Ser) rs1363452328
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe) rs1385935333
NM_138694.4(PKHD1):c.11785+1_11785+35del rs761547193
NM_138694.4(PKHD1):c.11946T>A (p.Cys3982Ter)
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1978T>C (p.Cys660Arg) rs727504092
NM_138694.4(PKHD1):c.1980C>G (p.Cys660Trp) rs1554214097
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2280-2A>G rs780675990
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp) rs794727466
NM_138694.4(PKHD1):c.3474G>A (p.Trp1158Ter) rs886061619
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.4187C>T (p.Pro1396Leu) rs1581809655
NM_138694.4(PKHD1):c.5342C>T (p.Thr1781Ile) rs1554197025
NM_138694.4(PKHD1):c.5353T>C (p.Phe1785Leu)
NM_138694.4(PKHD1):c.5372C>T (p.Pro1791Leu) rs886042677
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.4(PKHD1):c.5869G>A (p.Asp1957Asn)
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser) rs1791737049
NM_138694.4(PKHD1):c.5993T>C (p.Ile1998Thr) rs1210348558
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys) rs1554144226
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys) rs1554223332
NM_138694.4(PKHD1):c.664A>C (p.Ile222Leu) rs369925690
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly) rs201881567
NM_138694.4(PKHD1):c.8093A>C (p.Gln2698Pro) rs1771471295
NM_138694.4(PKHD1):c.847T>C (p.Phe283Leu) rs375145340
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr) rs1554232224
NM_138694.4(PKHD1):c.8648TAG[1] (p.Val2884del) rs1554221478
NM_138694.4(PKHD1):c.8871A>G (p.Ile2957Met)
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg) rs770068023
NM_138694.4(PKHD1):c.920T>C (p.Ile307Thr) rs1288017883
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp) rs1184981709
NM_139027.6(ADAMTS13):c.1188C>G (p.Cys396Trp) rs1840934191
NM_139027.6(ADAMTS13):c.725G>A (p.Cys242Tyr)
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139137.4(KCNC2):c.1408C>T (p.Pro470Ser) rs1881066861
NM_139242.4(MTFMT):c.645+3A>G
NM_139242.4(MTFMT):c.669G>T (p.Leu223Phe) rs372732702
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met) rs193922719
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile) rs1567708034
NM_139276.3(STAT3):c.82A>G (p.Met28Val) rs2145013673
NM_139279.6(MCFD2):c.47T>C (p.Leu16Pro) rs1572611822
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_144573.4(NEXN):c.1606_1607del (p.Lys536fs) rs1394704286
NM_144573.4(NEXN):c.1878dup (p.Asp627fs) rs2102181621
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_144573.4(NEXN):c.1935C>G (p.Phe645Leu) rs794729086
NM_144643.4(SCLT1):c.778-2A>T
NM_144666.3(DNHD1):c.11207-9_11207del
NM_144672.4(OTOA):c.1172C>T (p.Ser391Leu) rs727504599
NM_144672.4(OTOA):c.1265G>T (p.Gly422Val) rs200689333
NM_144672.4(OTOA):c.1880C>G (p.Pro627Arg) rs727503351
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_144773.4(PROKR2):c.472G>A (p.Val158Ile)
NM_144773.4(PROKR2):c.58del (p.His20fs) rs587777834
NM_144773.4(PROKR2):c.685G>C (p.Gly229Arg) rs1600577387
NM_144973.4(DENND5B):c.2547C>A (p.Asp849Glu)
NM_144991.3(TSPEAR):c.1870G>T (p.Glu624Ter) rs587717339
NM_144991.3(TSPEAR):c.1910G>A (p.Cys637Tyr)
NM_144997.7(FLCN):c.1177-5_1177-3del rs767671406
NM_144997.7(FLCN):c.1539-1_1540del
NM_144997.7(FLCN):c.1597C>T (p.Gln533Ter) rs398124532
NM_144997.7(FLCN):c.464_475del (p.Thr155_Ile158del) rs2047178513
NM_144997.7(FLCN):c.553T>C (p.Ser185Pro) rs876657646
NM_144997.7(FLCN):c.763C>T (p.His255Tyr) rs879255664
NM_145045.5(ODAD3):c.1116+1G>T
NM_145068.4(TRPV3):c.1729G>T (p.Val577Phe) rs200894372
NM_145167.3(PIGM):c.538A>T (p.Lys180Ter)
NM_145199.3(LIPT1):c.488C>T (p.Ser163Leu) rs1553515438
NM_145199.3(LIPT1):c.79dup (p.Thr27fs) rs757713207
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(AFG2A):c.2159C>T (p.Ala720Val)
NM_145207.3(AFG2A):c.2406A>C (p.Arg802Ser) rs1741466817
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln) rs1468206811
NM_145262.4(GLYCTK):c.1340dup (p.Leu447fs) rs769748483
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
NM_145331.3(MAP3K7):c.631G>A (p.Asp211Asn)
NM_145331.3(MAP3K7):c.745C>T (p.Pro249Ser) rs2127974491
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp) rs1554612377
NM_147127.5(EVC2):c.1540C>T (p.Leu514Phe)
NM_152281.3(GORAB):c.118C>T (p.Arg40Ter) rs369967804
NM_152296.5(ATP1A3):c.1579_1582del (p.Ala527fs)
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu) rs886041396
NM_152296.5(ATP1A3):c.2747T>G (p.Ile916Ser) rs1555859165
NM_152296.5(ATP1A3):c.569C>T (p.Pro190Leu) rs1599723609
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg) rs2145977694
NM_152328.5(ADSS1):c.794G>A (p.Gly265Glu)
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys) rs377050184
NM_152443.3(RDH12):c.148G>A (p.Gly50Ser) rs2140141345
NM_152443.3(RDH12):c.185G>T (p.Arg62Leu) rs778481181
NM_152443.3(RDH12):c.215A>G (p.Asp72Gly) rs1594865341
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs) rs1180933570
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_152564.5(VPS13B):c.11850_11853dup (p.Pro3952fs) rs1554590433
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs) rs764544747
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_152564.5(VPS13B):c.5908+2dup rs587777381
NM_152564.5(VPS13B):c.8243C>T (p.Ser2748Leu) rs180177370
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs) rs2130858031
NM_152618.3(BBS12):c.1151del (p.Ser384fs) rs1553941404
NM_152618.3(BBS12):c.1175C>G (p.Ser392Ter) rs747159816
NM_152618.3(BBS12):c.1291C>T (p.Arg431Trp) rs756955366
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_152703.5(SAMD9L):c.3353A>G (p.Tyr1118Cys) rs1562789302
NM_152703.5(SAMD9L):c.4224dup (p.Gln1409fs) rs759143613
NM_152707.4(SLC25A16):c.92G>T (p.Arg31Leu) rs771745123
NM_152730.6(TBC1D32):c.1372+1G>T rs587777505
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216
NM_152906.7(TANGO2):c.149T>C (p.Leu50Pro) rs1328647913
NM_153006.3(NAGS):c.1228T>C (p.Ser410Pro)
NM_153006.3(NAGS):c.1552G>A (p.Ala518Thr)
NM_153006.3(NAGS):c.872T>A (p.Ile291Asn)
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp) rs867319899
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg) rs200415747
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_153240.5(NPHP3):c.1985+5G>A rs754508002
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro) rs1560014265
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg) rs766285779
NM_153638.4(PANK2):c.42_67del (p.Ala15fs) rs760822872
NM_153676.4(USH1C):c.2490+1del rs1366154374
NM_153682.3(PIGP):c.290del (p.Asn97fs) rs759209452
NM_153700.2(STRC):c.4171C>G (p.Arg1391Gly) rs376104748
NM_153700.2(STRC):c.5125A>G (p.Thr1709Ala) rs1336307815
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys) rs754370463
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153717.3(EVC):c.2449+1G>A rs1553893423
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter) rs58528565
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_170707.4(LMNA):c.127G>A (p.Ala43Thr) rs60446065
NM_170707.4(LMNA):c.1411C>G (p.Arg471Gly) rs28928902
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.179G>C (p.Arg60Pro) rs794728601
NM_170707.4(LMNA):c.344A>T (p.Glu115Val) rs794728588
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.618C>G (p.Phe206Leu) rs267607629
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.893G>A (p.Arg298His)
NM_170707.4(LMNA):c.938T>C (p.Leu313Pro) rs2102886618
NM_170784.3(MKKS):c.1530G>A (p.Trp510Ter)
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172250.3(MMAA):c.1114del (p.Gln372fs) rs765726949
NM_172250.3(MMAA):c.439+4_439+7del rs1553957939
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_172351.3(CD46):c.1082+2T>G rs1184770295
NM_172351.3(CD46):c.469T>C (p.Cys157Arg) rs2102552865
NM_172351.3(CD46):c.944-1G>C
NM_172362.3(KCNH1):c.1478C>A (p.Thr493Asn) rs1574266171
NM_172364.5(CACNA2D4):c.1564C>T (p.Arg522Ter)
NM_172364.5(CACNA2D4):c.548_554del (p.Leu183fs) rs1210621191
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro) rs762065937
NM_173076.3(ABCA12):c.196G>A (p.Gly66Arg)
NM_173477.5(USH1G):c.251T>C (p.Leu84Pro) rs397517927
NM_173483.4(CYP4F22):c.223-10C>G rs1057518087
NM_173630.4(RTTN):c.2315G>A (p.Arg772His) rs751344541
NM_173630.4(RTTN):c.4295G>A (p.Arg1432His) rs1465962355
NM_173660.5(DOK7):c.230C>T (p.Thr77Met) rs940346413
NM_173660.5(DOK7):c.533-2A>G
NM_173689.7(CRB2):c.597_600delinsTCATGTCAACGTGCCCTGGTCAACGGGCACCCGT (p.His200_Asp201insValAsnValProTrpSerThrGlyThrArg) rs2132756010
NM_174936.4(PCSK9):c.1394C>T (p.Ser465Leu) rs778849441
NM_174936.4(PCSK9):c.1496G>A (p.Arg499His) rs143394031
NM_174936.4(PCSK9):c.316G>A (p.Gly106Arg) rs2100267180
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg) rs1057519691
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.4(PCSK9):c.644G>A (p.Arg215His) rs794728683
NM_174936.4(PCSK9):c.652A>G (p.Arg218Gly) rs1278078294
NM_175748.4(UBR7):c.618del (p.Glu207fs) rs1894637828
NM_175914.5(HNF4A):c.239G>A (p.Cys80Tyr) rs2146375487
NM_175914.5(HNF4A):c.577G>T (p.Asp193Tyr)
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.778G>T (p.Asp260Tyr) rs1236613475
NM_175914.5(HNF4A):c.868C>T (p.Arg290Cys) rs1555817727
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu) rs369429452
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_176787.5(PIGN):c.130AGA[1] (p.Arg45del) rs1568244811
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe) rs1599663316
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu) rs201835155
NM_176824.3(BBS7):c.1891-2A>C rs1057519027
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter) rs151331559
NM_176869.3(PPA2):c.939+2T>C rs757950857
NM_177402.5(SYT2):c.797_801+1del
NM_177433.3(MAGED2):c.934G>T (p.Glu312Ter)
NM_177438.3(DICER1):c.2257-2A>G rs2140034081
NM_177438.3(DICER1):c.2461C>T (p.Arg821Cys) rs1891611876
NM_177438.3(DICER1):c.4889G>T (p.Arg1630Leu) rs368343829
NM_177438.3(DICER1):c.5096-12G>A rs1566750865
NM_177438.3(DICER1):c.5452G>A (p.Ala1818Thr) rs1889802883
NM_177438.3(DICER1):c.5656G>A (p.Gly1886Arg) rs1566744851
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs) rs1211773372
NM_177550.5(SLC13A5):c.369-2A>G rs1973796030
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro) rs1973699059
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His) rs1057518092
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter) rs1034583315
NM_177924.5(ASAH1):c.994G>C (p.Asp332His) rs941670381
NM_177924.5(ASAH1):c.998G>A (p.Arg333His) rs1588974098
NM_177965.4(CFAP418):c.374+1G>C
NM_177987.3(TUBB8):c.1139G>A (p.Arg380His) rs1554738022
NM_177987.3(TUBB8):c.367G>A (p.Glu123Lys) rs562343372
NM_178012.5(TUBB2B):c.533C>T (p.Thr178Met) rs1057520391
NM_178170.3(NEK8):c.133C>T (p.Arg45Trp) rs1567759130
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_178857.6(RP1L1):c.330dup (p.Lys111fs) rs770312128
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_181078.3(IL21R):c.563del (p.Leu188fs) rs2087444941
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly) rs1560092712
NM_181458.4(PAX3):c.241G>T (p.Gly81Cys) rs483353059
NM_181486.4(TBX5):c.242+4A>G rs886044059
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181783.4(TMTC3):c.747TGT[1] (p.Val251del) rs771461068
NM_181882.3(PRX):c.3198del (p.Phe1066fs) rs1599651549
NM_182760.4(SUMF1):c.464C>T (p.Ser155Phe) rs1702889459
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
NM_182914.3(SYNE2):c.13156C>T (p.Gln4386Ter)
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val) rs761516140
NM_182931.3(KMT2E):c.1130+2T>C rs1554394210
NM_182943.3(PLOD2):c.2122-2A>G
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.2727+1G>T rs942550749
NM_183050.4(BCKDHB):c.1046G>A (p.Cys349Tyr) rs398124562
NM_183050.4(BCKDHB):c.1144T>C (p.Cys382Arg) rs727503822
NM_183050.4(BCKDHB):c.293T>G (p.Val98Gly) rs869312126
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn) rs398124575
NM_183050.4(BCKDHB):c.509G>C (p.Arg170Pro) rs371518124
NM_183050.4(BCKDHB):c.885del (p.Gly296fs) rs398124599
NM_183050.4(BCKDHB):c.995C>T (p.Pro332Leu) rs1554205541
NM_183075.3(CYP2U1):c.1355A>T (p.Asp452Val)
NM_183075.3(CYP2U1):c.1584del (p.Phe528fs)
NM_183235.3(RAB27A):c.121A>G (p.Thr41Ala) rs1896186645
NM_183235.3(RAB27A):c.259G>C (p.Ala87Pro) rs104894497
NM_194248.3(OTOF):c.1469C>G (p.Pro490Arg) rs80356585
NM_194248.3(OTOF):c.5108G>T (p.Arg1703Leu) rs529721333
NM_194248.3(OTOF):c.5407GAG[1] (p.Glu1804del) rs397515607
NM_194277.3(FRMD7):c.568A>G (p.Arg190Gly) rs2124223282
NM_194279.4(ISCA2):c.297del (p.Phe99fs) rs778755775
NM_194454.3(KRIT1):c.2142+2dup
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter) rs1952668177
NM_198173.3(GRHL3):c.738C>T (p.Gly246=) rs886037767
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) rs1562595388
NM_198253.3(TERT):c.-124C>T rs1242535815
NM_198253.3(TERT):c.2329G>A (p.Val777Met) rs1554040129
NM_198253.3(TERT):c.2768C>T (p.Pro923Leu) rs387907251
NM_198428.3(BBS9):c.1812del (p.Glu604fs) rs1229015450
NM_198514.4(NHLRC2):c.1A>G (p.Met1Val) rs2134678958
NM_198880.3(QRICH1):c.2266C>T (p.Arg756Trp)
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu) rs2093408453
NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys) rs2113325423
NM_198904.4(GABRG2):c.893A>C (p.Lys298Thr) rs1764627724
NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
NM_198994.3(TGM6):c.1430_1439del (p.Gly477fs) rs760886419
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro) rs377293829
NM_199242.3(UNC13D):c.2448-13G>A rs753762300
NM_199355.4(ADAMTS18):c.719A>T (p.Glu240Val)
NM_201253.3(CRB1):c.1006T>C (p.Cys336Arg) rs878853370
NM_201253.3(CRB1):c.1712A>C (p.Glu571Ala) rs773233587
NM_201253.3(CRB1):c.1760G>A (p.Cys587Tyr) rs1471328495
NM_201253.3(CRB1):c.2056C>T (p.Arg686Cys) rs1204363918
NM_201253.3(CRB1):c.2258T>C (p.Leu753Pro) rs896160584
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del) rs1433518605
NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr) rs1571544334
NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) rs398124615
NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr) rs1658699227
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) rs786205252
NM_201548.5(CERKL):c.1546_1565dup (p.Gly523fs) rs1064797278
NM_201548.5(CERKL):c.317G>A (p.Arg106His)
NM_201548.5(CERKL):c.419T>C (p.Leu140Pro) rs1481841151
NM_201596.3(CACNB2):c.1311C>A (p.Phe437Leu) rs560020203
NM_201599.3(ZMYM3):c.1322G>A (p.Arg441Gln)
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_203290.4(POLR1C):c.880AAG[1] (p.Lys295del) rs875989826
NM_203395.3(IYD):c.315_317del (p.Phe105_Ile106delinsLeu) rs863223276
NM_203486.3(DLL3):c.529_535del (p.Arg177fs) rs1452482256
NM_205767.2(MICOS13):c.260del rs759580358
NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly) rs1135401770
NM_205768.3(ZBTB18):c.1454C>T (p.Thr485Met)
NM_205850.3(SLC24A5):c.1402G>T (p.Gly468Ter)
NM_205850.3(SLC24A5):c.546T>A (p.Ser182Arg) rs1057517995
NM_206933.4(USH2A):c.1000C>G (p.Arg334Gly) rs397517963
NM_206933.4(USH2A):c.1037A>G (p.Asn346Ser)
NM_206933.4(USH2A):c.10485AGA[1] (p.Glu3496del) rs1241034250
NM_206933.4(USH2A):c.10996T>G (p.Cys3666Gly) rs766505885
NM_206933.4(USH2A):c.11267G>A (p.Gly3756Asp)
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
NM_206933.4(USH2A):c.12415G>A (p.Gly4139Ser)
NM_206933.4(USH2A):c.12700A>C (p.Thr4234Pro) rs577938494
NM_206933.4(USH2A):c.12889T>C (p.Ser4297Pro) rs1553252463
NM_206933.4(USH2A):c.13339A>G (p.Met4447Val) rs139474806
NM_206933.4(USH2A):c.13808A>C (p.His4603Pro) rs727504551
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val) rs527236124
NM_206933.4(USH2A):c.1390C>T (p.Arg464Cys) rs1423536179
NM_206933.4(USH2A):c.14243C>T (p.Ser4748Phe) rs527236126
NM_206933.4(USH2A):c.14423G>A (p.Cys4808Tyr)
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu) rs1237333884
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu) rs201513512
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.4(USH2A):c.1655G>C (p.Cys552Ser)
NM_206933.4(USH2A):c.1979G>A (p.Gly660Glu)
NM_206933.4(USH2A):c.2087G>T (p.Cys696Phe) rs1352007983
NM_206933.4(USH2A):c.2231G>A (p.Cys744Tyr) rs751035557
NM_206933.4(USH2A):c.3812-3_3837dup rs780071028
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.4(USH2A):c.4886-33_4894dup
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp) rs727505116
NM_206933.4(USH2A):c.5504C>T (p.Ser1835Leu) rs199645514
NM_206933.4(USH2A):c.5516T>A (p.Val1839Glu) rs886039867
NM_206933.4(USH2A):c.6083A>G (p.Tyr2028Cys)
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly) rs878853412
NM_206933.4(USH2A):c.6721C>T (p.Pro2241Ser) rs111033412
NM_206933.4(USH2A):c.6730G>A (p.Val2244Met) rs550772689
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His) rs1421761057
NM_206933.4(USH2A):c.7415A>C (p.Gln2472Pro) rs2102470142
NM_206933.4(USH2A):c.847A>G (p.Arg283Gly) rs2102658767
NM_206933.4(USH2A):c.9788_9808del (p.Ile3263_Gly3269del) rs1246009294
NM_206965.2(FTCD):c.1366dup (p.Glu456fs) rs777099958
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe) rs773779627
NM_207037.2(TCF12):c.1808G>A (p.Arg603Gln) rs1349009265
NM_207122.2(EXT2):c.1935+1G>T
NM_213599.3(ANO5):c.1538C>T (p.Thr513Ile) rs281865467
NM_213599.3(ANO5):c.2237C>A (p.Ala746Asp) rs886042907
NM_213599.3(ANO5):c.2498T>G (p.Met833Arg)
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del) rs794727350
NM_213653.4(HJV):c.950G>A (p.Cys317Tyr) rs1553769457
NM_213720.3(CHCHD10):c.44G>T (p.Arg15Leu) rs730880030
NR_001566.3(TERC):n.108delC rs2108183267
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_023343.3(RNU4ATAC):n.50G>A rs181195449
NR_023343.3(RNU4ATAC):n.6T>C rs1208611147
NR_033294.2(SNORD118):n.104G>A rs201686383
NR_033294.2(SNORD118):n.131C>G rs746503581
NR_033294.2(SNORD118):n.81G>A rs772667974
Single allele
c.(190+1_191-1)_(694+1_695-1)dup
c.(313+1_314-1)_(1186+1_1187-1)dup

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