ClinVar Miner

List of variants reported as uncertain significance for not specified by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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ClinVar version:
Total variants: 17687
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln) rs61747728 0.02796
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_000410.4(HFE):c.193A>T (p.Ser65Cys) rs1800730 0.01042
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
FIBRINOGEN PARIS 1 rs2066862 0.00546
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394 0.00465
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_032588.4(TRIM63):c.*2G>A rs77965623 0.00441
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_004970.3(IGFALS):c.860C>T (p.Pro287Leu) rs35706152 0.00428
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00399
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_006262.4(PRPH):c.421G>T (p.Asp141Tyr) rs58599399 0.00373
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701 0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00338
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_014363.6(SACS):c.13717A>C (p.Asn4573His) rs34382952 0.00326
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_005993.5(TBCD):c.2852+3A>G rs187081192 0.00308
NM_002163.4(IRF8):c.602C>T (p.Ala201Val) rs144424711 0.00301
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379 0.00297
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426 0.00294
NM_000282.4(PCCA):c.231+15C>T rs202049874 0.00291
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_016363.5(GP6):c.307C>G (p.Leu103Val) rs28969501 0.00283
NM_015702.3(MMADHC):c.-8C>T rs180812156 0.00282
NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys) rs34702903 0.00276
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala) rs146519878 0.00261
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_000055.4(BCHE):c.635C>T (p.Ala212Val) rs114706984 0.00254
NM_000035.4(ALDOB):c.799+6G>A rs141888548 0.00251
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly) rs538912281 0.00247
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212 0.00235
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_000552.5(VWF):c.4315G>A (p.Val1439Met) rs150077670 0.00229
NM_000552.5(VWF):c.3089A>G (p.Gln1030Arg) rs145125264 0.00222
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_000212.3(ITGB3):c.557C>T (p.Pro186Leu) rs61736876 0.00221
NM_033026.6(PCLO):c.10767C>G (p.Asp3589Glu) rs149879954 0.00221
NM_003922.4(HERC1):c.3374G>A (p.Gly1125Asp) rs80203202 0.00219
NM_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_000552.5(VWF):c.6859C>T (p.Arg2287Trp) rs61750625 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_020458.4(TTC7A):c.2014T>C (p.Ser672Pro) rs149602485 0.00217
NM_020458.4(TTC7A):c.1817A>G (p.Lys606Arg) rs139010200 0.00216
NM_000016.6(ACADM):c.127G>A (p.Glu43Lys) rs147559466 0.00210
NM_001191061.2(SLC25A22):c.151G>A (p.Asp51Asn) rs116134953 0.00210
NM_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu) rs36220240 0.00209
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp) rs35859650 0.00208
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_000484.4(APP):c.2212-11_2212-10del rs112965435 0.00206
NM_001625.4(AK2):c.602A>T (p.Tyr201Phe) rs113711467 0.00206
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NM_000228.3(LAMB3):c.332A>G (p.Asp111Gly) rs55824996 0.00198
NM_014363.6(SACS):c.10982C>T (p.Ala3661Val) rs36061856 0.00198
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00189
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_016653.3(MAP3K20):c.744+9A>G rs148211031 0.00181
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_001994.3(F13B):c.1163A>T (p.Glu388Val) rs5991 0.00175
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057 0.00174
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln) rs150734270 0.00173
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_015175.3(NBEAL2):c.5600C>T (p.Thr1867Ile) rs187699322 0.00172
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_001025356.3(ANO6):c.1274G>A (p.Arg425Gln) rs142960268 0.00170
NM_001163735.2(MYO19):c.1024G>A (p.Glu342Lys) rs200728833 0.00170
NM_014244.5(ADAMTS2):c.2842G>A (p.Asp948Asn) rs758419331 0.00169
NM_000552.5(VWF):c.8378T>C (p.Val2793Ala) rs143743709 0.00168
NM_001497.4(B4GALT1):c.259C>T (p.Pro87Ser) rs149181384 0.00166
NM_030777.4(SLC2A10):c.-15C>T rs377142129 0.00166
NM_017721.5(CC2D1A):c.1357-2A>C rs200557641 0.00164
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_138694.4(PKHD1):c.8951-13C>T rs112249812 0.00163
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_001369268.1(ACAN):c.5368T>A (p.Ser1790Thr) rs201149160 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00161
NM_000108.5(DLD):c.338-18T>A rs184851386 0.00160
NM_000352.6(ABCC8):c.3399+13G>A rs182340196 0.00160
NM_000282.4(PCCA):c.1558A>T (p.Ser520Cys) rs112237881 0.00159
NM_000376.3(VDR):c.1085C>T (p.Thr362Ile) rs11574115 0.00159
NM_005502.4(ABCA1):c.2543-3C>T rs139457469 0.00159
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg) rs141521925 0.00159
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe) rs35578485 0.00159
NM_001206744.2(TPO):c.2715_2724dup (p.Ala909fs) rs554989865 0.00157
NM_000026.4(ADSL):c.616G>T (p.Ala206Ser) rs148411623 0.00155
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782 0.00155
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg) rs114782902 0.00155
NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) rs79295927 0.00155
NM_003665.4(FCN3):c.232+1G>A rs141300199 0.00153
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001378454.1(ALMS1):c.10079-11C>T rs368250605 0.00151
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_000426.4(LAMA2):c.1782+14T>C rs191215452 0.00147
NM_198129.4(LAMA3):c.8851C>T (p.Arg2951Cys) rs61752346 0.00147
NM_000122.2(ERCC3):c.847C>T (p.Arg283Cys) rs145201970 0.00146
NM_000532.5(PCCB):c.872G>A (p.Cys291Tyr) rs77820367 0.00146
NM_031471.6(FERMT3):c.527C>T (p.Ala176Val) rs113348354 0.00146
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00143
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly) rs72542427 0.00142
NM_005186.4(CAPN1):c.1474G>A (p.Gly492Arg) rs17883283 0.00140
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_022772.4(EPS8L2):c.1584G>C (p.Trp528Cys) rs184903112 0.00137
NM_000243.3(MEFV):c.1610+10G>T rs11466033 0.00136
NM_003235.5(TG):c.1567T>C (p.Ser523Pro) rs116062097 0.00135
NM_005141.5(FGB):c.298C>T (p.Pro100Ser) rs2227434 0.00134
NM_001379500.1(COL18A1):c.3920C>T (p.Ser1307Leu) rs61735035 0.00133
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_000369.5(TSHR):c.1600C>T (p.Arg534Cys) rs150602845 0.00132
NM_001267550.2(TTN):c.40223A>G (p.Glu13408Gly) rs183950862 0.00132
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu) rs547116063 0.00131
NM_015202.5(KATNIP):c.2051C>A (p.Ser684Tyr) rs144244281 0.00131
NM_001363711.2(DUOX2):c.3232G>A (p.Val1078Met) rs147772932 0.00130
NM_020381.4(PDSS2):c.667G>A (p.Val223Ile) rs35555197 0.00130
NM_000529.2(MC2R):c.133G>A (p.Val45Ile) rs148298654 0.00128
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664 0.00128
NM_001369268.1(ACAN):c.2953A>G (p.Thr985Ala) rs200194458 0.00128
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg) rs35201073 0.00128
NM_000492.4(CFTR):c.4242+10T>C rs138642693 0.00127
NM_000552.5(VWF):c.1817G>A (p.Arg606Gln) rs200586078 0.00127
NM_001128178.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520 0.00127
NM_005609.4(PYGM):c.2286T>G (p.Ile762Met) rs75685607 0.00126
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000155.3(GALT):c.-179C>T rs62557482 0.00125
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_016363.5(GP6):c.172C>T (p.Arg58Cys) rs199588110 0.00125
NM_000018.4(ACADVL):c.818G>C (p.Gly273Ala) rs150149784 0.00124
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_001061.7(TBXAS1):c.179G>A (p.Arg60His) rs6138 0.00124
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu) rs113443891 0.00123
NM_006514.4(SCN10A):c.-8A>T rs200901459 0.00123
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln) rs200300254 0.00123
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln) rs41311778 0.00121
NM_003355.3(UCP2):c.169G>A (p.Ala57Thr) rs145662569 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_000298.6(PKLR):c.1706G>A (p.Arg569Gln) rs61755431 0.00119
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_016023.5(OTUD6B):c.-39A>G rs199542428 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000527.5(LDLR):c.*19G>A rs56270417 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_016023.5(OTUD6B):c.389C>A (p.Ala130Asp) rs143832637 0.00116
NM_152783.5(D2HGDH):c.490+16C>T rs375775579 0.00116
NM_206965.2(FTCD):c.1607T>A (p.Leu536Ter) rs149266909 0.00116
NM_020066.5(FMN2):c.2821G>A (p.Gly941Arg) rs141094573 0.00115
NM_003060.4(SLC22A5):c.1345T>G (p.Tyr449Asp) rs11568514 0.00114
NM_005559.4(LAMA1):c.3164G>A (p.Arg1055Gln) rs150940045 0.00114
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510 0.00113
NM_001163735.2(MYO19):c.1052T>A (p.Ile351Asn) rs199978039 0.00112
NM_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00112
NM_014049.5(ACAD9):c.928G>A (p.Val310Ile) rs139073821 0.00112
NM_139027.6(ADAMTS13):c.2944G>A (p.Gly982Arg) rs36222275 0.00112
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00111
NM_000552.5(VWF):c.974G>T (p.Cys325Phe) rs11837584 0.00111
NM_003824.4(FADD):c.620C>T (p.Ala207Val) rs146934620 0.00109
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00108
NM_001041.4(SI):c.2320A>G (p.Arg774Gly) rs147207752 0.00108
NM_015713.5(RRM2B):c.48+96G>C rs200373694 0.00108
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561 0.00107
NM_000302.4(PLOD1):c.564G>C (p.Leu188Phe) rs201888323 0.00106
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) rs201889290 0.00106
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00106
NM_000053.4(ATP7B):c.*16G>A rs193922100 0.00105
NM_001994.3(F13B):c.1935A>T (p.Arg645Ser) rs149091258 0.00104
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_021870.3(FGG):c.*500C>T rs183036893 0.00103
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121 0.00102
NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp) rs146632606 0.00102
NM_001358921.2(COQ2):c.170G>C (p.Ser57Thr) rs550949678 0.00102
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) rs141721173 0.00100
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter) rs143616240 0.00100
NM_001206744.2(TPO):c.*54C>T rs180847489 0.00099
NM_001256317.3(TMPRSS3):c.1360T>C (p.Ter454Arg) rs149919890 0.00098
NM_001369268.1(ACAN):c.5567G>A (p.Ser1856Asn) rs200762388 0.00098
NM_004628.5(XPC):c.1177C>T (p.Arg393Trp) rs121965090 0.00098
NM_177924.5(ASAH1):c.629T>C (p.Met210Thr) rs141068211 0.00098
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln) rs142599919 0.00096
NM_001010874.5(TECRL):c.893T>C (p.Val298Ala) rs146610448 0.00096
NM_001080.3(ALDH5A1):c.13A>G (p.Ile5Val) rs200398000 0.00096
NM_001084.5(PLOD3):c.1093G>A (p.Ala365Thr) rs150873622 0.00096
NM_001291303.3(FAT4):c.7052A>G (p.Asn2351Ser) rs145105421 0.00096
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_004807.3(HS6ST1):c.1121G>A (p.Ser374Asn) rs61732021 0.00094
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr) rs142822371 0.00093
NM_000552.5(VWF):c.7150C>T (p.Arg2384Trp) rs145697622 0.00093
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000243.3(MEFV):c.911-12G>A rs372016564 0.00092
NM_001710.6(CFB):c.837C>G (p.Asp279Glu) rs147564718 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr) rs200459002 0.00091
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser) rs147297895 0.00091
NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys) rs200190291 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_000174.5(GP9):c.368C>T (p.Pro123Leu) rs202229101 0.00089
NM_001378615.1(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432 0.00089
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_206933.4(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844 0.00089
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_004970.3(IGFALS):c.1357C>G (p.Leu453Val) rs149707428 0.00087
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr) rs536963649 0.00087
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_003922.4(HERC1):c.1259C>T (p.Thr420Met) rs201387092 0.00086
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_016343.4(CENPF):c.4520C>T (p.Ser1507Phe) rs145589304 0.00085
NM_000552.5(VWF):c.1892C>T (p.Ala631Val) rs199963222 0.00084
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu) rs140365206 0.00084
NM_000071.3(CBS):c.*18G>A rs200259659 0.00083
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243 0.00083
NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser) rs200935518 0.00083
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00083
NM_000152.5(GAA):c.1755-18T>C rs201399518 0.00082
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_000063.6(C2):c.2171C>T (p.Pro724Leu) rs145050210 0.00081
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_206933.4(USH2A):c.1663C>G (p.Leu555Val) rs35818432 0.00080
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val) rs145092724 0.00079
NM_000110.4(DPYD):c.868A>G (p.Lys290Glu) rs146356975 0.00078
NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His) rs184256941 0.00078
NM_001378454.1(ALMS1):c.11765A>G (p.Asn3922Ser) rs199874928 0.00078
NM_032119.4(ADGRV1):c.17992G>A (p.Val5998Met) rs557989446 0.00078
NM_000157.4(GBA1):c.1483G>C (p.Ala495Pro) rs368060 0.00077
NM_000302.4(PLOD1):c.1582G>A (p.Glu528Lys) rs112250644 0.00077
NM_032387.5(WNK4):c.2157+6G>C rs61755607 0.00077
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu) rs3219494 0.00076
NM_001365276.2(TNXB):c.2633G>A (p.Gly878Asp) rs201647307 0.00076
NM_003640.5(ELP1):c.1213C>T (p.Arg405Trp) rs139703788 0.00076
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531 0.00075
NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147 0.00075
NM_000552.5(VWF):c.5384C>T (p.Ala1795Val) rs146729537 0.00075
NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe) rs190009374 0.00075
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445 0.00074
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_004562.3(PRKN):c.52G>A (p.Asp18Asn) rs146288080 0.00074
NM_025074.7(FRAS1):c.1918C>T (p.Arg640Cys) rs147869493 0.00074
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 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_000552.5(VWF):c.2340C>G (p.Asn780Lys) rs143904314 0.00073
NM_001083116.3(PRF1):c.1310C>T (p.Ala437Val) rs138126912 0.00073
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala) rs147309177 0.00073
NM_004947.5(DOCK3):c.5145+4C>T rs138743227 0.00073
NM_033629.6(TREX1):c.720G>C (p.Arg240Ser) rs72556555 0.00073
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) rs200206105 0.00073
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg) rs67254669 0.00072
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr) rs138687850 0.00072
NM_000049.4(ASPA):c.509T>C (p.Ile170Thr) rs144321760 0.00071
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548 0.00071
NM_000243.3(MEFV):c.277+6C>T rs7199464 0.00071
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00071
NM_001033855.3(DCLRE1C):c.985T>A (p.Leu329Met) rs41299658 0.00071
NM_001130987.2(DYSF):c.5266C>T (p.Arg1756Trp) rs148541407 0.00071
NM_001164508.2(NEB):c.3184A>G (p.Lys1062Glu) rs192117840 0.00071
NM_001164508.2(NEB):c.3989A>G (p.Tyr1330Cys) rs189553632 0.00071
NM_001297.5(CNGB1):c.2747G>A (p.Arg916His) rs137853902 0.00071
NM_145199.3(LIPT1):c.369del (p.Lys123fs) rs552120721 0.00071
NM_000083.3(CLCN1):c.2926C>T (p.Arg976Ter) rs142539932 0.00070
NM_000334.4(SCN4A):c.4508A>G (p.Asn1503Ser) rs114900922 0.00070
NM_003748.4(ALDH4A1):c.199G>A (p.Val67Met) rs141327098 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) rs201591640 0.00070
NM_000277.3(PAH):c.30C>G (p.Gly10=) rs1801145 0.00069
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_000228.3(LAMB3):c.*19G>A rs369211699 0.00068
NM_000383.4(AIRE):c.1118C>T (p.Ala373Val) rs79212994 0.00068
NM_014875.3(KIF14):c.265G>A (p.Ala89Thr) rs143156660 0.00068
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_183050.4(BCKDHB):c.86C>T (p.Ala29Val) rs9448884 0.00068
NM_000520.5(HEXA):c.-768A>G rs539186923 0.00067
NM_005430.4(WNT1):c.754G>C (p.Gly252Arg) rs200151492 0.00067
NM_206933.4(USH2A):c.13361T>A (p.Val4454Asp) rs148033154 0.00067
NM_000018.4(ACADVL):c.1567G>A (p.Gly523Arg) rs139425622 0.00066
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966 0.00066
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00066
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00066
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363 0.00066
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_206933.4(USH2A):c.12145G>A (p.Ala4049Thr) rs143696882 0.00066
NM_000306.4(POU1F1):c.605-5T>G rs201406891 0.00065
NM_001164508.2(NEB):c.217C>T (p.Arg73Trp) rs77994592 0.00065
NM_001256071.3(RNF213):c.14677G>C (p.Glu4893Gln) rs143163385 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001625.4(AK2):c.614G>A (p.Gly205Glu) rs202182972 0.00065
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_016343.4(CENPF):c.9158G>A (p.Arg3053Gln) rs143976001 0.00065
NM_020632.3(ATP6V0A4):c.419C>T (p.Thr140Met) rs144802156 0.00065
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415 0.00064
NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg) rs201252553 0.00064
NM_007289.4(MME):c.1040A>G (p.Tyr347Cys) rs138218277 0.00064
NM_000054.7(AVPR2):c.913G>A (p.Ala305Thr) rs145953185 0.00063
NM_000260.4(MYO7A):c.3750+5G>A rs111033391 0.00063
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) rs144155507 0.00063
NM_000552.5(VWF):c.4130C>T (p.Ala1377Val) rs141211612 0.00063
NM_001374385.1(ATP8B1):c.1498T>C (p.Tyr500His) rs147642236 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_033087.4(ALG2):c.348+6G>A rs368075764 0.00063
NM_000053.4(ATP7B):c.1543+13C>T rs200171850 0.00062
NM_001195248.2(APTX):c.-5+1G>T rs146487634 0.00062
NM_002693.3(POLG):c.3131T>C (p.Val1044Ala) rs150233690 0.00062
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met) rs201177183 0.00062
NM_000091.5(COL4A3):c.2020+18A>C rs374992426 0.00061
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_001089.3(ABCA3):c.385G>A (p.Val129Met) rs137924161 0.00061
NM_001126108.2(SLC12A3):c.2285+8G>A rs199854613 0.00061
NM_001365999.1(SZT2):c.9887G>T (p.Gly3296Val) rs368272173 0.00061
NM_001372044.2(SHANK3):c.3257G>T (p.Gly1086Val) rs767058690 0.00061
NM_015272.5(RPGRIP1L):c.3706C>T (p.Arg1236Cys) rs151332923 0.00061
NM_015627.3(LDLRAP1):c.284G>A (p.Arg95Gln) rs139877665 0.00061
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 0.00061
NM_206933.4(USH2A):c.8575C>T (p.Arg2859Cys) rs138087806 0.00061
NM_000157.4(GBA1):c.1506-12C>T rs368832292 0.00060
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His) rs200950723 0.00060
NM_001384732.1(CPLANE1):c.8462-1G>C rs151279194 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_003355.3(UCP2):c.140G>A (p.Ser47Asn) rs144018051 0.00060
NM_018713.3(SLC30A10):c.284C>T (p.Thr95Ile) rs188273166 0.00060
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074 0.00059
NM_000237.3(LPL):c.542-8C>T rs201634558 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_001257096.2(PAX1):c.937G>A (p.Gly313Ser) rs149840627 0.00059
NM_006412.4(AGPAT2):c.761C>T (p.Thr254Ile) rs147616533 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704 0.00059
NM_000512.5(GALNS):c.1242+3A>G rs377067312 0.00058
NM_001378454.1(ALMS1):c.11584T>C (p.Ser3862Pro) rs202227966 0.00058
NM_001378454.1(ALMS1):c.11708G>A (p.Arg3903Gln) rs201673771 0.00058
NM_018897.3(DNAH7):c.5360A>G (p.Asp1787Gly) rs374415212 0.00058
NM_207361.6(FREM2):c.7535G>A (p.Arg2512His) rs61978626 0.00058
NR_003051.3(RMRP):n.-12A>C rs372044910 0.00058
NM_000277.3(PAH):c.289A>C (p.Ile97Leu) rs142516271 0.00057
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu) rs139260335 0.00057
NM_018249.6(CDK5RAP2):c.4039C>G (p.Leu1347Val) rs144012972 0.00057
NM_138694.4(PKHD1):c.5768A>T (p.Gln1923Leu) rs150838488 0.00057
NM_198525.3(KIF7):c.2959G>A (p.Glu987Lys) rs146626238 0.00057
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
NM_001384474.1(LOXHD1):c.5410G>A (p.Glu1804Lys) rs200242497 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser) rs61760160 0.00056
NM_005502.4(ABCA1):c.5636+18A>C rs111671370 0.00056
NM_020297.4(ABCC9):c.2238-1G>A rs141281214 0.00056
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg) rs115074675 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_001164508.2(NEB):c.14869T>A (p.Tyr4957Asn) rs756192566 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_002427.4(MMP13):c.190A>C (p.Met64Leu) rs111947721 0.00055
NM_004612.4(TGFBR1):c.46G>A (p.Val16Met) rs1021523079 0.00055
NM_020458.4(TTC7A):c.974G>A (p.Arg325Gln) rs144971707 0.00055
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_003900.5(SQSTM1):c.98C>T (p.Ala33Val) rs200396166 0.00054
NM_005502.4(ABCA1):c.2115+17C>T rs371944946 0.00054
NM_014875.3(KIF14):c.2096G>A (p.Arg699His) rs147597734 0.00054
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208 0.00053
NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) rs772106076 0.00053
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978 0.00053
NM_001267550.2(TTN):c.10378C>G (p.Pro3460Ala) rs201735487 0.00053
NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys) rs374073337 0.00053
NM_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_003664.5(AP3B1):c.3131+5G>T rs191616060 0.00053
NM_004970.3(IGFALS):c.1478G>A (p.Arg493His) rs200380381 0.00053
NM_014780.5(CUL7):c.2563A>G (p.Lys855Glu) rs140218677 0.00053
NM_138694.4(PKHD1):c.1119-18C>G rs367960459 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_000302.4(PLOD1):c.1584+17C>T rs200962113 0.00052
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_001128840.3(CACNA1D):c.2812-14G>T rs369180125 0.00052
NM_000082.4(ERCC8):c.175A>T (p.Met59Leu) rs140343389 0.00051
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001378454.1(ALMS1):c.10774A>G (p.Thr3592Ala) rs200467041 0.00051
NM_001852.4(COL9A2):c.458C>T (p.Pro153Leu) rs77937237 0.00051
NM_003384.3(VRK1):c.858G>T (p.Met286Ile) rs139476915 0.00051
NM_020366.4(RPGRIP1):c.3358A>G (p.Ile1120Val) rs137853911 0.00051
NM_173689.7(CRB2):c.755-12G>A rs199716560 0.00051
NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val) rs150952348 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_002615.7(SERPINF1):c.1076G>A (p.Arg359Gln) rs144198046 0.00050
NM_021870.3(FGG):c.140C>T (p.Thr47Ile) rs138511699 0.00050
NM_025074.7(FRAS1):c.7163G>A (p.Ser2388Asn) rs77601278 0.00050
NM_138694.4(PKHD1):c.11507-11C>T rs201478327 0.00050
NM_001139.3(ALOX12B):c.526G>A (p.Glu176Lys) rs149039053 0.00049
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496 0.00048
NM_000098.3(CPT2):c.1598T>C (p.Val533Ala) rs144703247 0.00048
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00048
NM_001291303.3(FAT4):c.13417G>A (p.Val4473Ile) rs145835705 0.00048
NM_001377299.1(NDUFS2):c.1276G>T (p.Ala426Ser) rs186476170 0.00048
NM_001378454.1(ALMS1):c.11353A>G (p.Ile3785Val) rs201819880 0.00048
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly) rs140547520 0.00048
NM_007262.5(PARK7):c.535G>A (p.Ala179Thr) rs71653622 0.00048
NM_015274.3(MAN2B2):c.1766T>C (p.Ile589Thr) rs148488843 0.00048
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter) rs67608943 0.00048
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615 0.00047
NM_000030.3(AGXT):c.1048G>A (p.Gly350Ser) rs199610919 0.00046
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446 0.00046
NM_000497.4(CYP11B1):c.518A>G (p.Lys173Arg) rs142163070 0.00046
NM_001082971.2(DDC):c.435+6G>T rs373041067 0.00046
NM_001128178.3(NPHP1):c.771+134G>A rs140151060 0.00046
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala) rs149974794 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.66391A>G (p.Thr22131Ala) rs140842479 0.00046
NM_001384732.1(CPLANE1):c.8678C>T (p.Pro2893Leu) rs147426388 0.00046
NM_001643.2(APOA2):c.121G>A (p.Val41Met) rs142522492 0.00046
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu) rs138158369 0.00046
NM_004369.4(COL6A3):c.3680-5C>T rs370146203 0.00046
NM_005609.4(PYGM):c.160T>G (p.Phe54Val) rs148839812 0.00046
NM_012114.3(CASP14):c.719A>T (p.Tyr240Phe) rs141111994 0.00046
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00046
NM_025233.7(COASY):c.247G>T (p.Val83Phe) rs115817227 0.00046
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028 0.00046
NM_000094.4(COL7A1):c.4636G>C (p.Gly1546Arg) rs73831831 0.00045
NM_000302.4(PLOD1):c.905C>A (p.Ser302Tyr) rs565765056 0.00045
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_001098671.2(RASGRP2):c.371+7G>T rs181901181 0.00045
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00045
NM_001378454.1(ALMS1):c.11255A>G (p.Asn3752Ser) rs199917289 0.00045
NM_015404.4(WHRN):c.995G>A (p.Arg332Gln) rs139193948 0.00045
NM_015506.3(MMACHC):c.277-4C>G rs199889403 0.00045
NM_020821.3(VPS13C):c.1102A>G (p.Thr368Ala) rs150098264 0.00045
NM_033026.6(PCLO):c.311G>A (p.Arg104His) rs201699382 0.00045
NM_000275.3(OCA2):c.1336A>G (p.Met446Val) rs140566426 0.00044
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001039.4(SCNN1G):c.776C>A (p.Thr259Asn) rs72646501 0.00044
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186 0.00044
NM_001166114.2(PNPLA6):c.3914-8G>A rs374861157 0.00044
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu) rs150505248 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_194248.3(OTOF):c.5038C>T (p.Arg1680Cys) rs147070644 0.00044
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys) rs180177290 0.00043
NM_000140.5(FECH):c.362A>G (p.Glu121Gly) rs141813907 0.00043
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp) rs150763745 0.00043
NM_000492.4(CFTR):c.958T>G (p.Leu320Val) rs144476686 0.00043
NM_001083116.3(PRF1):c.82C>T (p.Arg28Cys) rs141660796 0.00043
NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser) rs142450703 0.00043
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00043
NM_015202.5(KATNIP):c.4387G>A (p.Asp1463Asn) rs146850516 0.00043
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met) rs199644216 0.00043
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) rs148456883 0.00043
NM_024570.4(RNASEH2B):c.787A>G (p.Thr263Ala) rs150363383 0.00043
NM_182961.4(SYNE1):c.21149G>A (p.Arg7050Gln) rs143639400 0.00043
NM_206933.4(USH2A):c.11815G>A (p.Glu3939Lys) rs146264950 0.00043
NM_000080.4(CHRNE):c.581T>C (p.Ile194Thr) rs146931108 0.00042
NM_000195.5(HPS1):c.1928G>A (p.Gly643Glu) rs148225281 0.00042
NM_000198.4(HSD3B2):c.809T>C (p.Ile270Thr) rs75429891 0.00042
NM_001061.7(TBXAS1):c.263T>C (p.Ile88Thr) rs184269562 0.00042
NM_001174089.2(SLC4A11):c.1807G>A (p.Ala603Thr) rs138262189 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00042
NM_000045.4(ARG1):c.798A>C (p.Lys266Asn) rs111253965 0.00041
NM_000053.4(ATP7B):c.1555G>A (p.Val519Met) rs192957846 0.00041
NM_000144.5(FXN):c.118C>T (p.Arg40Cys) rs145854903 0.00041
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_000518.4(HBB):c.-51T>C rs386134236 0.00041
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001017995.3(SH3PXD2B):c.1291G>A (p.Ala431Thr) rs142779141 0.00041
NM_001358530.2(MOCS1):c.431G>A (p.Arg144Gln) rs138822116 0.00041
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00041
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_003322.6(TULP1):c.1495C>T (p.Pro499Ser) rs138772407 0.00041
NM_005677.4(COLQ):c.1074+4C>T rs201227079 0.00041
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr) rs541276426 0.00041
NM_014875.3(KIF14):c.1017A>T (p.Glu339Asp) rs140036867 0.00041
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680 0.00041
NM_139027.6(ADAMTS13):c.2936G>A (p.Arg979Gln) rs142779872 0.00041
NM_207346.3(TSEN54):c.1313G>A (p.Arg438Gln) rs200228117 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_000370.3(TTPA):c.452G>A (p.Arg151Gln) rs150710403 0.00040
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00040
NM_002529.4(NTRK1):c.1474G>A (p.Glu492Lys) rs144901788 0.00040
NM_138694.4(PKHD1):c.7911+19T>C rs201017366 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
NM_000492.4(CFTR):c.1210-12_1210-11insG rs4148705 0.00039
NM_000518.5(HBB):c.316-96G>C rs193922561 0.00039
NM_001384140.1(PCDH15):c.2290C>T (p.Arg764Cys) rs192813057 0.00039
NM_003060.4(SLC22A5):c.1451G>T (p.Gly484Val) rs28383480 0.00039
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg) rs140334007 0.00039
NM_005373.3(MPL):c.1102G>T (p.Val368Leu) rs149810307 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg) rs149841071 0.00039
NM_139027.6(ADAMTS13):c.415-5C>T rs200230025 0.00039
NM_173076.3(ABCA12):c.5747C>T (p.Thr1916Ile) rs373276045 0.00039
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg) rs148114532 0.00039
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561 0.00038
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg) rs76459136 0.00038
NM_001089.3(ABCA3):c.4012G>A (p.Ala1338Thr) rs149871856 0.00038
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln) rs148001159 0.00038
NM_015175.3(NBEAL2):c.3387G>A (p.Ala1129=) rs371065166 0.00038
NM_015506.3(MMACHC):c.67G>T (p.Val23Phe) rs201898615 0.00038
NM_032551.5(KISS1R):c.1167C>A (p.Cys389Ter) rs371771794 0.00038
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser) rs201346206 0.00038
NM_000525.4(KCNJ11):c.37G>A (p.Val13Met) rs139079635 0.00037
NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter) rs201976061 0.00037
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881 0.00037
NM_005876.5(SPEG):c.1649C>T (p.Pro550Leu) rs747464249 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000344.4(SMN1):c.835-8C>A rs200146682 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378615.1(CC2D2A):c.4438-9C>A rs117667651 0.00036
NM_007194.4(CHEK2):c.1451C>T (p.Pro484Leu) rs564605612 0.00036
NM_015404.4(WHRN):c.2417C>T (p.Pro806Leu) rs149897775 0.00036
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_000071.3(CBS):c.1223+13G>A rs533660793 0.00035
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser) rs190598500 0.00035
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000376.3(VDR):c.1016T>C (p.Val339Ala) rs187843998 0.00035
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000518.5(HBB):c.93G>T (p.Arg31Ser) rs1135071 0.00035
NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg) rs201714437 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser) rs142693704 0.00035
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn) rs138000380 0.00035
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000053.4(ATP7B):c.2448-11G>A rs200450017 0.00034
NM_000243.3(MEFV):c.2292G>T (p.Gly764=) rs142352887 0.00034
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His) rs150139276 0.00034
NM_001142800.2(EYS):c.3568+5T>C rs539477235 0.00034
NM_001164508.2(NEB):c.71C>T (p.Pro24Leu) rs185496567 0.00034
NM_001267550.2(TTN):c.49015C>T (p.Arg16339Trp) rs201793958 0.00034
NM_001267550.2(TTN):c.53287+6G>A rs149890360 0.00034
NM_001267550.2(TTN):c.99866-10C>T rs773128928 0.00034
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) rs273585625 0.00034
NM_001379610.1(SPINK1):c.198A>C (p.Lys66Asn) rs143014431 0.00034
NM_016343.4(CENPF):c.6668A>G (p.Gln2223Arg) rs150277836 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_020365.5(EIF2B3):c.979C>T (p.Pro327Ser) rs146286158 0.00034
NM_021870.3(FGG):c.124G>A (p.Gly42Ser) rs202132393 0.00034
NM_021942.6(TRAPPC11):c.2851+5G>A rs373713956 0.00034
NM_052989.3(IFT122):c.1553G>A (p.Arg518His) rs138223055 0.00034
NM_080669.6(SLC46A1):c.1256A>G (p.Asn419Ser) rs141992236 0.00034
NM_182961.4(SYNE1):c.4732C>T (p.Pro1578Ser) rs199769508 0.00034
NM_001061.7(TBXAS1):c.734A>G (p.Asn245Ser) rs55856189 0.00033
NM_001103146.3(GIGYF2):c.167A>G (p.Asn56Ser) rs72554080 0.00033
NM_001134831.2(AHI1):c.1013T>G (p.Leu338Trp) rs201790260 0.00033
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser) rs138843691 0.00033
NM_030777.4(SLC2A10):c.1289-6C>T rs199967429 0.00033
NM_033026.6(PCLO):c.8483C>T (p.Thr2828Ile) rs189352647 0.00033
NM_206933.4(USH2A):c.6590C>T (p.Thr2197Ile) rs140487302 0.00033
NM_000053.4(ATP7B):c.2921C>T (p.Thr974Met) rs201061621 0.00032
NM_000110.4(DPYD):c.2180-11G>A rs377136032 0.00032
NM_000243.3(MEFV):c.926C>T (p.Thr309Met) rs104895155 0.00032
NM_000302.4(PLOD1):c.52G>A (p.Ala18Thr) rs373165011 0.00032
NM_000518.5(HBB):c.-106G>C rs63750681 0.00032
NM_001080.3(ALDH5A1):c.1474G>A (p.Val492Ile) rs151294087 0.00032
NM_001089.3(ABCA3):c.418A>C (p.Asn140His) rs45447801 0.00032
NM_001267550.2(TTN):c.8902+16T>A rs66507451 0.00032
NM_001378454.1(ALMS1):c.11939C>T (p.Thr3980Ile) rs200568988 0.00032
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_020297.4(ABCC9):c.1165-20del rs768812471 0.00032
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) rs376797531 0.00032
NM_183065.4(TMEM107):c.*638C>T rs368022715 0.00032
NM_000110.4(DPYD):c.1358C>G (p.Pro453Arg) rs144395748 0.00031
NM_000170.3(GLDC):c.1000T>C (p.Phe334Leu) rs149133229 0.00031
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu) rs145540754 0.00031
NM_000540.3(RYR1):c.7976C>T (p.Thr2659Met) rs138325444 0.00031
NM_001035.3(RYR2):c.11092-6A>T rs397516501 0.00031
NM_001039141.3(TRIOBP):c.6556G>A (p.Gly2186Ser) rs191901426 0.00031
NM_001048174.2(MUTYH):c.1392+2C>T rs140288388 0.00031
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr) rs148615988 0.00031
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_001378615.1(CC2D2A):c.613G>A (p.Gly205Arg) rs147499316 0.00031
NM_001379451.1(BCORL1):c.3604G>A (p.Glu1202Lys) rs767569401 0.00031
NM_002598.4(PDCD2):c.82C>T (p.Pro28Ser) rs773036976 0.00031
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00031
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu) rs143972828 0.00031
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser) rs531533787 0.00031
NM_078470.6(COX15):c.329C>T (p.Pro110Leu) rs144644373 0.00031
NM_139076.3(ABRAXAS1):c.1011del (p.Ala338fs) rs764429803 0.00031
NM_173477.5(USH1G):c.310A>G (p.Met104Val) rs149529031 0.00031
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp) rs149827260 0.00030
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781 0.00030
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_000552.5(VWF):c.7025G>A (p.Arg2342His) rs34120165 0.00030
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=) rs138936064 0.00030
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916 0.00030
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile) rs143587828 0.00030
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00030
NM_001379659.1(ZNF142):c.1718G>A (p.Arg573His) rs139412557 0.00030
NM_024537.4(CARS2):c.563C>T (p.Thr188Met) rs142034206 0.00030
NM_182961.4(SYNE1):c.21782G>A (p.Arg7261Gln) rs61742716 0.00030
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569 0.00029
NM_000153.4(GALC):c.49A>G (p.Met17Val) rs376662045 0.00029
NM_000155.4(GALT):c.*8G>A rs370285476 0.00029
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys) rs80338671 0.00029
NM_000336.3(SCNN1B):c.803A>G (p.His268Arg) rs138004955 0.00029
NM_000492.4(CFTR):c.2770G>A (p.Asp924Asn) rs201759207 0.00029
NM_001083116.3(PRF1):c.1000G>A (p.Gly334Ser) rs145463632 0.00029
NM_001134363.3(RBM20):c.567G>T (p.Gln189His) rs377623370 0.00029
NM_001148.6(ANK2):c.11009C>A (p.Thr3670Asn) rs45608232 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001360.3(DHCR7):c.988G>A (p.Val330Met) rs139724817 0.00029
NM_001363711.2(DUOX2):c.1547G>A (p.Arg516His) rs143818717 0.00029
NM_001365951.3(KIF1B):c.2115+7081C>T rs376558549 0.00029
NM_001367624.2(ZNF469):c.845G>A (p.Gly282Glu) rs757999676 0.00029
NM_001556.3(IKBKB):c.318+6G>T rs17875678 0.00029
NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met) rs142326016 0.00029
NM_003060.4(SLC22A5):c.287G>C (p.Gly96Ala) rs377767450 0.00029
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met) rs149653983 0.00029
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659 0.00029
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg) rs201428088 0.00029
NM_017433.5(MYO3A):c.426T>G (p.His142Gln) rs189595832 0.00029
NM_017777.4(MKS1):c.1414C>T (p.Arg472Cys) rs181513926 0.00029
NM_152443.3(RDH12):c.869T>G (p.Val290Gly) rs61740289 0.00029
NM_000027.4(AGA):c.806+3A>G rs368144874 0.00028
NM_000484.4(APP):c.742G>A (p.Asp248Asn) rs200103591 0.00028
NM_000527.5(LDLR):c.940+16G>A rs72658859 0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001194998.2(CEP152):c.3839A>G (p.Asp1280Gly) rs539483307 0.00028
NM_001378454.1(ALMS1):c.861C>T (p.Asp287=) rs377281121 0.00028
NM_003060.4(SLC22A5):c.529A>G (p.Met177Val) rs145068530 0.00028
NM_006208.3(ENPP1):c.2330A>G (p.His777Arg) rs147346173 0.00028
NM_015275.3(WASHC4):c.2159A>G (p.Asn720Ser) rs113419458 0.00028
NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro) rs145058237 0.00028
NM_030662.4(MAP2K2):c.-4C>G rs747742961 0.00028
NM_032387.5(WNK4):c.1800del (p.Ala601fs) rs61755595 0.00028
NM_182943.3(PLOD2):c.1451G>A (p.Arg484His) rs142909885 0.00028
NM_000335.5(SCN5A):c.3837+8T>C rs372405305 0.00027
NM_000518.5(HBB):c.316-19T>A rs191535077 0.00027
NM_001099922.3(ALG13):c.2975G>A (p.Cys992Tyr) rs190790872 0.00027
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00027
NM_006129.5(BMP1):c.2075C>T (p.Ser692Phe) rs201303856 0.00027
NM_006258.4(PRKG1):c.1466A>T (p.Tyr489Phe) rs149710600 0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00027
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859 0.00027
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_000023.4(SGCA):c.115A>G (p.Thr39Ala) rs540292629 0.00026
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys) rs139434755 0.00026
NM_000101.4(CYBA):c.203+5G>A rs200590340 0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
NM_000155.4(GALT):c.253-5G>A rs762136953 0.00026
NM_000512.5(GALNS):c.1482+4A>G rs377407678 0.00026
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001267550.2(TTN):c.3605T>C (p.Val1202Ala) rs150667217 0.00026
NM_001267550.2(TTN):c.38297-9T>A rs199610136 0.00026
NM_001267550.2(TTN):c.48509A>G (p.Asn16170Ser) rs370809363 0.00026
NM_001267550.2(TTN):c.50719A>G (p.Ile16907Val) rs750610895 0.00026
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001378454.1(ALMS1):c.9976G>C (p.Ala3326Pro) rs201213079 0.00026
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_003640.5(ELP1):c.947C>T (p.Pro316Leu) rs374814563 0.00026
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424 0.00026
NM_005559.4(LAMA1):c.1796C>T (p.Thr599Met) rs148234507 0.00026
NM_006270.5(RRAS):c.49G>T (p.Gly17Trp) rs373359206 0.00026
NM_006623.4(PHGDH):c.1471C>T (p.Arg491Trp) rs587731325 0.00026
NM_016648.4(LARP7):c.320C>T (p.Thr107Ile) rs200393300 0.00026
NM_017534.6(MYH2):c.3128C>T (p.Ser1043Phe) rs200217946 0.00026
NM_032415.7(CARD11):c.2276G>A (p.Arg759Gln) rs148354898 0.00026
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972 0.00025
NM_000080.4(CHRNE):c.46+5G>A rs375802288 0.00025
NM_000096.4(CP):c.2158C>T (p.Arg720Trp) rs145784949 0.00025
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys) rs202051939 0.00025
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398 0.00025
NM_000302.4(PLOD1):c.1427A>G (p.Lys476Arg) rs576907642 0.00025
NM_000369.5(TSHR):c.100G>A (p.Glu34Lys) rs45499704 0.00025
NM_000492.4(CFTR):c.846A>T (p.Glu282Asp) rs142864834 0.00025
NM_000552.5(VWF):c.56-7C>T rs374802332 0.00025
NM_000795.4(DRD2):c.191C>T (p.Ala64Val) rs201137518 0.00025
NM_000823.4(GHRHR):c.29T>G (p.Val10Gly) rs139599160 0.00025
NM_001365999.1(SZT2):c.2888A>G (p.Lys963Arg) rs144176855 0.00025
NM_001395891.1(CLASP1):c.196-562G>A rs370715569 0.00025
NM_001852.4(COL9A2):c.1400A>G (p.Gln467Arg) rs373264436 0.00025
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529 0.00025
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr) rs148205441 0.00025
NM_002691.4(POLD1):c.3257G>A (p.Arg1086Gln) rs3219457 0.00025
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_003466.4(PAX8):c.1009T>G (p.Ser337Ala) rs199939219 0.00025
NM_004366.6(CLCN2):c.246C>G (p.Phe82Leu) rs140463309 0.00025
NM_014049.5(ACAD9):c.1149+5C>A rs367985938 0.00025
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr) rs143676440 0.00025
NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu) rs201814961 0.00025
NM_138694.4(PKHD1):c.10909C>T (p.Arg3637Cys) rs141349745 0.00025
NM_182943.3(PLOD2):c.2110G>A (p.Glu704Lys) rs140079753 0.00025
NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln) rs199766465 0.00025
NM_000055.4(BCHE):c.155C>T (p.Thr52Met) rs56309853 0.00024
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480 0.00024
NM_000152.5(GAA):c.1552-14C>T rs199715011 0.00024
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000335.5(SCN5A):c.1340C>G (p.Ala447Gly) rs199473113 0.00024
NM_000350.3(ABCA4):c.3758C>T (p.Thr1253Met) rs61752424 0.00024
NM_000481.4(AMT):c.635T>C (p.Val212Ala) rs201141125 0.00024
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp) rs151193056 0.00024
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001353108.3(CEP63):c.2038C>T (p.Arg680Cys) rs141217824 0.00024
NM_001365999.1(SZT2):c.9172G>A (p.Val3058Met) rs143959495 0.00024
NM_001384140.1(PCDH15):c.298G>A (p.Gly100Arg) rs140716525 0.00024
NM_001384474.1(LOXHD1):c.3979T>A (p.Phe1327Ile) rs749667545 0.00024
NM_001851.6(COL9A1):c.1423G>A (p.Gly475Ser) rs143320197 0.00024
NM_002972.4(SBF1):c.4768A>G (p.Thr1590Ala) rs200488568 0.00024
NM_003119.4(SPG7):c.1267G>A (p.Gly423Ser) rs201543030 0.00024
NM_003322.6(TULP1):c.190+6C>T rs529180227 0.00024
NM_003922.4(HERC1):c.6788G>A (p.Ser2263Asn) rs200964205 0.00024
NM_004004.6(GJB2):c.-127G>C rs727503068 0.00024
NM_004369.4(COL6A3):c.8978G>A (p.Arg2993His) rs201888442 0.00024
NM_005562.3(LAMC2):c.2014+5T>C rs377208927 0.00024
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257 0.00024
NM_012062.5(DNM1L):c.305C>T (p.Thr102Met) rs201929226 0.00024
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_015272.5(RPGRIP1L):c.628A>G (p.Asn210Asp) rs146584570 0.00024
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn) rs199605881 0.00024
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys) rs139194636 0.00024
NM_024306.5(FA2H):c.232G>A (p.Glu78Lys) rs527421775 0.00024
NM_025114.4(CEP290):c.6628C>T (p.Arg2210Cys) rs374852145 0.00024
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu) rs148175530 0.00024
NM_153717.3(EVC):c.2350G>A (p.Ala784Thr) rs149537641 0.00024
NM_170601.5(SIAE):c.1211T>C (p.Phe404Ser) rs201877149 0.00024
NM_203446.3(SYNJ1):c.125-17A>G rs113560074 0.00024
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000129.4(F13A1):c.1492G>T (p.Ala498Ser) rs745888361 0.00023
NM_000152.5(GAA):c.2040+17G>A rs534129336 0.00023
NM_000232.5(SGCB):c.31C>G (p.Gln11Glu) rs752492870 0.00023
NM_000383.4(AIRE):c.226G>A (p.Asp76Asn) rs146810389 0.00023
NM_000552.5(VWF):c.6016G>A (p.Glu2006Lys) rs140229844 0.00023
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001174089.2(SLC4A11):c.902C>T (p.Thr301Met) rs139941321 0.00023
NM_001267550.2(TTN):c.95722T>C (p.Tyr31908His) rs199781261 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_004415.4(DSP):c.2794-4dup rs397516924 0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) rs541943893 0.00023
NM_015627.3(LDLRAP1):c.344+4C>T rs371561646 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr) rs149441561 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000070.3(CAPN3):c.1813G>A (p.Val605Ile) rs200759807 0.00022
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His) rs146179135 0.00022
NM_000155.3(GALT):c.-739C>T rs778861821 0.00022
NM_000301.5(PLG):c.2134G>A (p.Gly712Arg) rs202074006 0.00022
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val) rs139486832 0.00022
NM_000383.4(AIRE):c.342G>T (p.Lys114Asn) rs142788946 0.00022
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_000540.3(RYR1):c.5000G>A (p.Arg1667His) rs138978909 0.00022
NM_000550.3(TYRP1):c.208G>A (p.Ala70Thr) rs61752864 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) rs144565124 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001243279.3(ACSF3):c.728C>T (p.Pro243Leu) rs140986055 0.00022
NM_001261826.3(AP3D1):c.3596C>T (p.Thr1199Met) rs200727342 0.00022
NM_001267550.2(TTN):c.107377+14C>T rs367908657 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.28829G>A (p.Ser9610Asn) rs371759532 0.00022
NM_001283009.2(RTEL1):c.3422C>T (p.Pro1141Leu) rs201682415 0.00022
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser) rs201023772 0.00022
NM_001378454.1(ALMS1):c.1451G>A (p.Gly484Asp) rs374663067 0.00022
NM_001378454.1(ALMS1):c.2536G>A (p.Gly846Arg) rs201154998 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_002615.7(SERPINF1):c.441G>C (p.Lys147Asn) rs138341386 0.00022
NM_021175.4(HAMP):c.175C>G (p.Arg59Gly) rs779021719 0.00022
NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln) rs61753339 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val) rs200220848 0.00022
NM_033026.6(PCLO):c.14209C>A (p.Leu4737Ile) rs199650110 0.00022
NM_054012.4(ASS1):c.-4C>T rs138350285 0.00022
NM_138694.4(PKHD1):c.5585C>T (p.Ser1862Leu) rs147933501 0.00022
NM_138694.4(PKHD1):c.9478C>T (p.His3160Tyr) rs147351244 0.00022
NM_153603.4(COG7):c.86C>T (p.Ala29Val) rs146918812 0.00022
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) rs77428810 0.00022
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu) rs376494248 0.00021
NM_000051.4(ATM):c.4871A>G (p.His1624Arg) rs56354559 0.00021
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_000081.4(LYST):c.3898A>G (p.Ile1300Val) rs199855658 0.00021
NM_000089.4(COL1A2):c.1295G>A (p.Arg432Gln) rs139446305 0.00021
NM_000104.4(CYP1B1):c.1102C>T (p.Arg368Cys) rs72480442 0.00021
NM_000155.3(GALT):c.-121C>G rs368046870 0.00021
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00021
NM_000302.4(PLOD1):c.1789C>T (p.Pro597Ser) rs141692280 0.00021
NM_000388.4(CASR):c.2237C>T (p.Ala746Val) rs139417576 0.00021
NM_000487.6(ARSA):c.656G>A (p.Arg219His) rs148403406 0.00021
NM_001018005.2(TPM1):c.797A>G (p.Lys266Arg) rs371934474 0.00021
NM_001035.3(RYR2):c.2613+4C>G rs371880082 0.00021
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys) rs149342980 0.00021
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile) rs555768104 0.00021
NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met) rs374873057 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.71723G>A (p.Gly23908Asp) rs540161344 0.00021
NM_001378454.1(ALMS1):c.12362+17_12362+18del rs768207589 0.00021
NM_002160.4(TNC):c.6494A>G (p.Gln2165Arg) rs200330029 0.00021
NM_002485.5(NBN):c.786C>A (p.Phe262Leu) rs372159380 0.00021
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) rs201240844 0.00021
NM_006129.5(BMP1):c.2438C>T (p.Ala813Val) rs140902180 0.00021
NM_006432.5(NPC2):c.292A>C (p.Asn98His) rs142858704 0.00021
NM_006514.4(SCN10A):c.724T>A (p.Ser242Thr) rs140288103 0.00021
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_015272.5(RPGRIP1L):c.1177G>A (p.Glu393Lys) rs375776718 0.00021
NM_018993.4(RIN2):c.2398A>T (p.Ser800Cys) rs368984007 0.00021
NM_030780.5(SLC25A32):c.440G>A (p.Arg147His) rs142329098 0.00021
NM_033305.3(VPS13A):c.6379-19T>G rs766881111 0.00021
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
NM_182961.4(SYNE1):c.15202A>G (p.Lys5068Glu) rs139805184 0.00021
NM_198253.3(TERT):c.3257G>A (p.Arg1086His) rs200288187 0.00021
NM_199242.3(UNC13D):c.1759C>T (p.Arg587Cys) rs148574729 0.00021
NR_003051.4(RMRP):n.59_60insA rs1053360711 0.00021
NM_000094.4(COL7A1):c.3809C>T (p.Pro1270Leu) rs145068043 0.00020
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956 0.00020
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val) rs104895151 0.00020
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361 0.00020
NM_000350.3(ABCA4):c.1592A>G (p.Glu531Gly) rs145718830 0.00020
NM_001009944.3(PKD1):c.11672G>A (p.Arg3891His) rs950293866 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00020
NM_001267550.2(TTN):c.32767A>C (p.Lys10923Gln) rs367720439 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) rs138672490 0.00020
NM_018249.6(CDK5RAP2):c.4297+5G>A rs201798027 0.00020
NM_020451.3(SELENON):c.103G>C (p.Gly35Arg) rs398124359 0.00020
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu) rs139547269 0.00020
NM_022124.6(CDH23):c.4391C>T (p.Ala1464Val) rs374362883 0.00020
NM_031471.6(FERMT3):c.1080-5C>T rs143722885 0.00020
NM_138694.4(PKHD1):c.6121G>A (p.Gly2041Ser) rs199589074 0.00020
NM_138694.4(PKHD1):c.7734-6C>A rs367564272 0.00020
NM_000016.6(ACADM):c.187G>C (p.Val63Leu) rs149308824 0.00019
NM_000051.4(ATM):c.2495G>A (p.Arg832His) rs199875915 0.00019
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239 0.00019
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000092.5(COL4A4):c.4715C>T (p.Pro1572Leu) rs121912863 0.00019
NM_000094.4(COL7A1):c.4987C>A (p.Pro1663Thr) rs149342284 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000138.5(FBN1):c.7852G>A (p.Gly2618Arg) rs141133182 0.00019
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala) rs143321486 0.00019
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747 0.00019
NM_000196.4(HSD11B2):c.440G>A (p.Arg147His) rs13306425 0.00019
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_000260.4(MYO7A):c.1846C>T (p.Arg616Trp) rs369195493 0.00019
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 0.00019
NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) rs146786552 0.00019
NM_000443.4(ABCB4):c.1313C>T (p.Thr438Met) rs142271471 0.00019
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met) rs373122168 0.00019
NM_000484.4(APP):c.982C>T (p.Arg328Trp) rs200978018 0.00019
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.31G>A (p.Val11Ile) rs1800072 0.00019
NM_000492.4(CFTR):c.418C>T (p.Pro140Ser) rs145900055 0.00019
NM_000492.4(CFTR):c.902A>G (p.Tyr301Cys) rs150691494 0.00019
NM_001083116.3(PRF1):c.563C>T (p.Pro188Leu) rs150156593 0.00019
NM_001089.3(ABCA3):c.838C>T (p.Arg280Cys) rs201299260 0.00019
NM_001126108.2(SLC12A3):c.1709C>T (p.Ala570Val) rs201130736 0.00019
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852 0.00019
NM_001142864.4(PIEZO1):c.3922C>G (p.Leu1308Val) rs532112751 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.39548-8A>G rs369594816 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys) rs199646089 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_001365088.1(SLC12A6):c.1417A>G (p.Asn473Asp) rs370477960 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001367561.1(DOCK7):c.1585C>T (p.Leu529Phe) rs142744313 0.00019
NM_001367624.2(ZNF469):c.9214G>A (p.Gly3072Ser) rs557364171 0.00019
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378615.1(CC2D2A):c.2197G>A (p.Gly733Arg) rs372259202 0.00019
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00019
NM_001710.6(CFB):c.1407C>G (p.Ile469Met) rs201798809 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002103.5(GYS1):c.1890G>A (p.Ala630=) rs142457302 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_002485.5(NBN):c.37+6G>A rs540868733 0.00019
NM_003560.4(PLA2G6):c.386T>C (p.Leu129Pro) rs374746113 0.00019
NM_003632.3(CNTNAP1):c.2703G>A (p.Met901Ile) rs146094809 0.00019
NM_003849.4(SUCLG1):c.101C>T (p.Pro34Leu) rs149809280 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004646.4(NPHS1):c.766C>T (p.Arg256Trp) rs386833960 0.00019
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln) rs200996196 0.00019
NM_006129.5(BMP1):c.239G>A (p.Arg80His) rs73549580 0.00019
NM_006623.4(PHGDH):c.1258G>A (p.Glu420Lys) rs140979375 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_014297.5(ETHE1):c.184G>A (p.Ala62Thr) rs138958351 0.00019
NM_014639.4(SKIC3):c.4507C>T (p.Arg1503Cys) rs200067423 0.00019
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu) rs201312386 0.00019
NM_020631.6(PLEKHG5):c.2575C>T (p.Arg859Cys) rs150666859 0.00019
NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser) rs371166792 0.00019
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) rs372561968 0.00019
NM_054012.4(ASS1):c.299G>A (p.Arg100His) rs138279074 0.00019
NM_133378.4(TTN):c.19928-7C>T rs771244164 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_147127.5(EVC2):c.2039T>C (p.Leu680Pro) rs148407223 0.00019
NM_198129.4(LAMA3):c.5780C>T (p.Thr1927Ile) rs146039146 0.00019
NM_199242.3(UNC13D):c.3145C>G (p.Pro1049Ala) rs750743318 0.00019
NM_203446.3(SYNJ1):c.3580G>C (p.Ala1194Pro) rs77164494 0.00019
NM_213599.3(ANO5):c.797C>T (p.Pro266Leu) rs745908606 0.00019
NM_000038.6(APC):c.6637A>G (p.Met2213Val) rs186926737 0.00018
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770 0.00018
NM_000138.5(FBN1):c.4727T>C (p.Met1576Thr) rs776625874 0.00018
NM_000335.5(SCN5A):c.5901C>G (p.Ile1967Met) rs199473333 0.00018
NM_000370.3(TTPA):c.204+6C>T rs574780098 0.00018
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu) rs199662246 0.00018
NM_000447.3(PSEN2):c.149A>G (p.Gln50Arg) rs143501870 0.00018
NM_000447.3(PSEN2):c.166G>A (p.Gly56Ser) rs188598190 0.00018
NM_000552.5(VWF):c.5014G>A (p.Gly1672Arg) rs61750598 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp) rs201991864 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232 0.00018
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00018
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val) rs200944504 0.00018
NM_001379500.1(COL18A1):c.3133G>A (p.Glu1045Lys) rs200427354 0.00018
NM_002273.4(KRT8):c.1392G>T (p.Lys464Asn) rs201507031 0.00018
NM_002335.4(LRP5):c.4049T>G (p.Leu1350Arg) rs531205284 0.00018
NM_002485.5(NBN):c.1999T>C (p.Ser667Pro) rs587780091 0.00018
NM_002972.4(SBF1):c.3191G>A (p.Gly1064Glu) rs201200122 0.00018
NM_003560.4(PLA2G6):c.1835G>T (p.Arg612Leu) rs200117092 0.00018
NM_004260.4(RECQL4):c.1697T>C (p.Leu566Pro) rs201648505 0.00018
NM_014625.4(NPHS2):c.790G>C (p.Glu264Gln) rs369697947 0.00018
NM_020117.11(LARS1):c.1501G>A (p.Ala501Thr) rs139960441 0.00018
NM_021098.3(CACNA1H):c.4120G>A (p.Val1374Met) rs201855332 0.00018
NM_025074.7(FRAS1):c.3963G>C (p.Lys1321Asn) rs370629874 0.00018
NM_030662.4(MAP2K2):c.919+10G>A rs780890887 0.00018
NM_032040.5(CCDC8):c.1605A>C (p.Glu535Asp) rs146060947 0.00018
NM_053025.4(MYLK):c.1612C>T (p.Arg538Trp) rs55672414 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser) rs374876799 0.00017
NM_000138.5(FBN1):c.3514G>A (p.Val1172Met) rs200125037 0.00017
NM_000152.5(GAA):c.1320G>T (p.Met440Ile) rs550837627 0.00017
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe) rs187833337 0.00017
NM_000372.5(TYR):c.915C>A (p.Asp305Glu) rs142170797 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000553.6(WRN):c.2114C>T (p.Thr705Ile) rs141563618 0.00017
NM_000747.3(CHRNB1):c.725G>A (p.Arg242His) rs79220301 0.00017
NM_001267550.2(TTN):c.106349C>G (p.Thr35450Ser) rs371022420 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001378454.1(ALMS1):c.9389C>G (p.Pro3130Arg) rs200586877 0.00017
NM_001384474.1(LOXHD1):c.1730T>G (p.Leu577Arg) rs727503147 0.00017
NM_001845.6(COL4A1):c.3634A>T (p.Met1212Leu) rs199557190 0.00017
NM_003630.3(PEX3):c.456+3A>G rs113147921 0.00017
NM_004793.4(LONP1):c.1612C>T (p.Arg538Cys) rs201664019 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu) rs199895166 0.00017
NM_015275.3(WASHC4):c.3286G>A (p.Ala1096Thr) rs113168943 0.00017
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln) rs371753672 0.00017
NM_015627.3(LDLRAP1):c.850G>A (p.Ala284Thr) rs144622500 0.00017
NM_018972.4(GDAP1):c.399G>A (p.Met133Ile) rs139808557 0.00017
NM_019098.5(CNGB3):c.1178+6T>C rs151236891 0.00017
NM_021098.3(CACNA1H):c.2542G>A (p.Gly848Ser) rs374272094 0.00017
NM_024334.3(TMEM43):c.361A>G (p.Met121Val) rs369878538 0.00017
NM_025137.4(SPG11):c.667+5C>T rs375485062 0.00017
NM_033305.3(VPS13A):c.6541G>A (p.Val2181Ile) rs146158125 0.00017
NM_058216.3(RAD51C):c.640C>T (p.Arg214Cys) rs140804406 0.00017
NM_058216.3(RAD51C):c.890T>C (p.Leu297Pro) rs143026267 0.00017
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe) rs763064034 0.00016
NM_000057.4(BLM):c.3751+10C>T rs199685140 0.00016
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val) rs373291490 0.00016
NM_000094.4(COL7A1):c.5086C>T (p.Arg1696Cys) rs2229820 0.00016
NM_000104.4(CYP1B1):c.487C>T (p.Arg163Cys) rs104894978 0.00016
NM_000138.5(FBN1):c.3454G>A (p.Ala1152Thr) rs140890215 0.00016
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_000157.4(GBA1):c.535G>C (p.Asp179His) rs147138516 0.00016
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) rs192378817 0.00016
NM_000275.3(OCA2):c.1239+5G>C rs757119713 0.00016
NM_000326.5(RLBP1):c.925C>T (p.Gln309Ter) rs769666232 0.00016
NM_000383.4(AIRE):c.1066C>T (p.Arg356Trp) rs376901046 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000552.5(VWF):c.2071C>A (p.Pro691Thr) rs199623726 0.00016
NM_000552.5(VWF):c.4027A>G (p.Ile1343Val) rs150923481 0.00016
NM_000552.5(VWF):c.7433G>A (p.Arg2478Gln) rs111752224 0.00016
NM_000557.5(GDF5):c.241G>A (p.Gly81Arg) rs148658511 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001018115.3(FANCD2):c.1348A>G (p.Ile450Val) rs145129959 0.00016
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp) rs547005691 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001042545.2(LTBP4):c.3268G>A (p.Ala1090Thr) rs372105249 0.00016
NM_001048174.2(MUTYH):c.1483C>T (p.Arg495Cys) rs147480076 0.00016
NM_001048174.2(MUTYH):c.616G>A (p.Val206Met) rs200165598 0.00016
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met) rs143059463 0.00016
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys) rs562882648 0.00016
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu) rs766868824 0.00016
NM_001148.6(ANK2):c.11032+19A>G rs200769962 0.00016
NM_001174089.2(SLC4A11):c.1700G>A (p.Gly567Asp) rs139078082 0.00016
NM_001243279.3(ACSF3):c.28C>T (p.Arg10Trp) rs202182978 0.00016
NM_001267550.2(TTN):c.44593G>A (p.Glu14865Lys) rs543102139 0.00016
NM_001267550.2(TTN):c.55673G>A (p.Arg18558His) rs115867512 0.00016
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln) rs575837567 0.00016
NM_001267550.2(TTN):c.63626G>A (p.Arg21209Gln) rs148684589 0.00016
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln) rs141965360 0.00016
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00016
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001384474.1(LOXHD1):c.3371G>A (p.Arg1124His) rs762111513 0.00016
NM_001385875.1(ZFYVE27):c.149A>G (p.Tyr50Cys) rs199548555 0.00016
NM_001395413.1(POR):c.841C>A (p.Pro281Thr) rs72557937 0.00016
NM_001846.4(COL4A2):c.2185G>A (p.Gly729Arg) rs201058867 0.00016
NM_002485.5(NBN):c.1343A>T (p.Gln448Leu) rs146403088 0.00016
NM_004341.5(CAD):c.1984G>A (p.Val662Ile) rs147722428 0.00016
NM_004370.6(COL12A1):c.1471G>C (p.Glu491Gln) rs367630003 0.00016
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_004614.5(TK2):c.548G>A (p.Arg183Gln) rs780333412 0.00016
NM_005458.8(GABBR2):c.1364C>A (p.Thr455Asn) rs373607825 0.00016
NM_005562.3(LAMC2):c.503+6T>C rs375623003 0.00016
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly) rs774277300 0.00016
NM_005633.4(SOS1):c.3706C>A (p.Pro1236Thr) rs727504636 0.00016
NM_006567.5(FARS2):c.1268G>A (p.Arg423Gln) rs148921184 0.00016
NM_006767.4(LZTR1):c.1517C>T (p.Pro506Leu) rs763950976 0.00016
NM_006796.3(AFG3L2):c.536A>G (p.Tyr179Cys) rs368594369 0.00016
NM_006883.2(SHOX):c.-432-3C>A rs1030279647 0.00016
NM_014244.5(ADAMTS2):c.1629+6G>A rs377268307 0.00016
NM_014780.5(CUL7):c.2693C>G (p.Ser898Trp) rs141829168 0.00016
NM_015175.3(NBEAL2):c.1613G>A (p.Arg538His) rs368310677 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_017547.4(FOXRED1):c.920G>A (p.Gly307Glu) rs145888229 0.00016
NM_018127.7(ELAC2):c.2375C>T (p.Ala792Val) rs767378629 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_018972.4(GDAP1):c.256A>G (p.Ile86Val) rs144037310 0.00016
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter) rs138846118 0.00016
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu) rs377518118 0.00016
NM_025137.4(SPG11):c.6878G>A (p.Arg2293Gln) rs201721414 0.00016
NM_033118.4(MYLK2):c.157G>A (p.Asp53Asn) rs200204126 0.00016
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_139076.3(ABRAXAS1):c.272A>T (p.Asn91Ile) rs767146349 0.00016
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile) rs368114048 0.00016
NM_144997.7(FLCN):c.113G>T (p.Ser38Ile) rs139418842 0.00016
NM_145207.3(AFG2A):c.1912A>G (p.Lys638Glu) rs560475969 0.00016
NM_000051.4(ATM):c.2887A>G (p.Met963Val) rs374353016 0.00015
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly) rs370567994 0.00015
NM_000059.4(BRCA2):c.2813C>A (p.Ala938Glu) rs55773834 0.00015
NM_000070.3(CAPN3):c.338T>C (p.Ile113Thr) rs747026964 0.00015
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) rs376144196 0.00015
NM_000235.4(LIPA):c.966+3A>T rs201242614 0.00015
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg) rs140754514 0.00015
NM_000312.4(PROC):c.703A>C (p.Lys235Gln) rs370086431 0.00015
NM_000383.4(AIRE):c.1312G>A (p.Gly438Arg) rs553396434 0.00015
NM_000388.4(CASR):c.757C>A (p.Gln253Lys) rs202179597 0.00015
NM_000478.6(ALPL):c.436G>A (p.Glu146Lys) rs138587317 0.00015
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val) rs121909021 0.00015
NM_000552.5(VWF):c.2344C>T (p.Arg782Trp) rs61748471 0.00015
NM_000552.5(VWF):c.7730-4C>G rs71581030 0.00015
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812 0.00015
NM_001080.3(ALDH5A1):c.1316C>T (p.Thr439Ile) rs139633130 0.00015
NM_001083116.3(PRF1):c.674G>A (p.Arg225Gln) rs140281371 0.00015
NM_001199138.2(NLRC4):c.928C>T (p.Arg310Ter) rs199475953 0.00015
NM_001256007.3(PNPLA8):c.587T>C (p.Ile196Thr) rs147092803 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00015
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032 0.00015
NM_001369268.1(ACAN):c.1948G>A (p.Val650Met) rs201414869 0.00015
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_002474.3(MYH11):c.1749+4C>G rs776271431 0.00015
NM_003238.6(TGFB2):c.199G>A (p.Val67Met) rs201761868 0.00015
NM_003647.3(DGKE):c.713G>A (p.Gly238Glu) rs201154049 0.00015
NM_003919.3(SGCE):c.391A>G (p.Ile131Val) rs370609227 0.00015
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004369.4(COL6A3):c.6749C>T (p.Pro2250Leu) rs140728855 0.00015
NM_006182.4(DDR2):c.932G>A (p.Ser311Asn) rs189870832 0.00015
NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly) rs370890802 0.00015
NM_015459.5(ATL3):c.580C>T (p.Arg194Cys) rs372986534 0.00015
NM_017757.3(ZNF407):c.1526C>T (p.Pro509Leu) rs376677482 0.00015
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026 0.00015
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr) rs147054690 0.00015
NM_144670.6(A2ML1):c.565C>T (p.Pro189Ser) rs780009431 0.00015
NM_207034.3(EDN3):c.554C>T (p.Thr185Met) rs368327225 0.00015
NM_207346.3(TSEN54):c.622C>T (p.Arg208Trp) rs147165460 0.00015
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000049.4(ASPA):c.427A>G (p.Ile143Val) rs199565861 0.00014
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala) rs142455912 0.00014
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000053.4(ATP7B):c.226A>G (p.Ile76Val) rs200642204 0.00014
NM_000053.4(ATP7B):c.670A>T (p.Ile224Phe) rs200563529 0.00014
NM_000057.4(BLM):c.842A>C (p.His281Pro) rs202042636 0.00014
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys) rs28933673 0.00014
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000138.5(FBN1):c.7455T>G (p.Asp2485Glu) rs377272529 0.00014
NM_000142.5(FGFR3):c.158G>C (p.Ser53Thr) rs201433984 0.00014
NM_000153.4(GALC):c.266C>T (p.Pro89Leu) rs201422931 0.00014
NM_000155.4(GALT):c.1132A>G (p.Ile378Val) rs111033819 0.00014
NM_000155.4(GALT):c.688-4C>T rs374014228 0.00014
NM_000243.3(MEFV):c.1502G>A (p.Arg501His) rs104895196 0.00014
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr) rs377403073 0.00014
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000344.4(SMN1):c.864G>T (p.Arg288Ser) rs368899583 0.00014
NM_000348.4(SRD5A2):c.702C>G (p.Phe234Leu) rs9332966 0.00014
NM_000350.3(ABCA4):c.5338C>G (p.Pro1780Ala) rs121909207 0.00014
NM_000400.4(ERCC2):c.2083C>T (p.Arg695Cys) rs201392911 0.00014
NM_000419.5(ITGA2B):c.408+16C>T rs377288289 0.00014
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala) rs267607353 0.00014
NM_000552.5(VWF):c.6965A>T (p.Glu2322Val) rs201792015 0.00014
NM_001025295.3(IFITM5):c.68C>T (p.Ala23Val) rs552104680 0.00014
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001244710.2(GFPT1):c.716G>A (p.Arg239Gln) rs555854564 0.00014
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00014
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00014
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met) rs371455094 0.00014
NM_001267550.2(TTN):c.21962-6C>T rs374870814 0.00014
NM_001267550.2(TTN):c.47936C>T (p.Pro15979Leu) rs184815126 0.00014
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00014
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val) rs72648225 0.00014
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00014
NM_001267550.2(TTN):c.97436G>A (p.Arg32479His) rs369845358 0.00014
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569 0.00014
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser) rs141708467 0.00014
NM_001363711.2(DUOX2):c.1060C>T (p.Arg354Trp) rs766496010 0.00014
NM_001369268.1(ACAN):c.2203G>A (p.Glu735Lys) rs202060628 0.00014
NM_001369369.1(FOXN1):c.1749del (p.Cys586fs) rs773519376 0.00014
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238 0.00014
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys) rs199842209 0.00014
NM_001982.4(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285 0.00014
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) rs201320326 0.00014
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser) rs150415679 0.00014
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys) rs376682837 0.00014
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala) rs766925398 0.00014
NM_003098.3(SNTA1):c.40G>A (p.Glu14Lys) rs786205846 0.00014
NM_003937.3(KYNU):c.291-7A>G rs369879960 0.00014
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645 0.00014
NM_004239.4(TRIP11):c.5719+2T>C rs199736345 0.00014
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr) rs140965835 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_004415.4(DSP):c.889G>A (p.Asp297Asn) rs201930322 0.00014
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn) rs138800446 0.00014
NM_005732.4(RAD50):c.259C>T (p.Arg87Cys) rs143802516 0.00014
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_015158.5(KANK1):c.151G>A (p.Asp51Asn) rs201262082 0.00014
NM_015957.4(APIP):c.-95G>C rs538595954 0.00014
NM_022081.6(HPS4):c.1621A>G (p.Met541Val) rs202104505 0.00014
NM_032119.4(ADGRV1):c.8585A>G (p.Tyr2862Cys) rs876657827 0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_032730.5(RTN4IP1):c.415C>T (p.Pro139Ser) rs148788441 0.00014
NM_053025.4(MYLK):c.3610C>T (p.Arg1204Trp) rs151294221 0.00014
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val) rs149331537 0.00014
NM_138422.4(ADAT3):c.988G>A (p.Asp330Asn) rs202206209 0.00014
NM_139027.6(ADAMTS13):c.539+7G>A rs184864675 0.00014
NM_176787.5(PIGN):c.2750C>T (p.Thr917Met) rs61755364 0.00014
NM_182760.4(SUMF1):c.58C>T (p.Leu20Phe) rs200142963 0.00014
NM_182760.4(SUMF1):c.875A>G (p.Tyr292Cys) rs148841895 0.00014
NM_182943.3(PLOD2):c.1128G>A (p.Met376Ile) rs202241126 0.00014
NM_198428.3(BBS9):c.1760G>A (p.Arg587Gln) rs149042169 0.00014
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg) rs118204430 0.00013
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln) rs145078268 0.00013
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000057.4(BLM):c.3044C>T (p.Thr1015Ile) rs202196488 0.00013
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359 0.00013
NM_000059.4(BRCA2):c.68-3T>G rs786201770 0.00013
NM_000071.3(CBS):c.670C>T (p.Arg224Cys) rs139456571 0.00013
NM_000123.4(ERCC5):c.739A>G (p.Ile247Val) rs200504271 0.00013
NM_000155.4(GALT):c.507+12C>T rs199572263 0.00013
NM_000180.4(GUCY2D):c.1979G>A (p.Arg660Gln) rs61750162 0.00013
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000238.4(KCNH2):c.3107G>A (p.Gly1036Asp) rs199473022 0.00013
NM_000277.3(PAH):c.65C>A (p.Thr22Lys) rs199565868 0.00013
NM_000302.4(PLOD1):c.975+14G>A rs371184529 0.00013
NM_000314.6(PTEN):c.-859A>G rs876661029 0.00013
NM_000335.5(SCN5A):c.1891-8G>A rs12720064 0.00013
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305 0.00013
NM_000492.4(CFTR):c.1679+16T>C rs397508262 0.00013
NM_000492.4(CFTR):c.2552G>A (p.Arg851Gln) rs397508395 0.00013
NM_000540.3(RYR1):c.2687G>A (p.Arg896Gln) rs147515913 0.00013
NM_000552.5(VWF):c.1870G>A (p.Gly624Ser) rs542226383 0.00013
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp) rs553500083 0.00013
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala) rs759668768 0.00013
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys) rs148355179 0.00013
NM_001018115.3(FANCD2):c.2976+6T>C rs201875004 0.00013
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile) rs144575104 0.00013
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069 0.00013
NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln) rs199691160 0.00013
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001142800.2(EYS):c.5038A>G (p.Asn1680Asp) rs540546920 0.00013
NM_001142800.2(EYS):c.9209T>C (p.Ile3070Thr) rs183589498 0.00013
NM_001164508.2(NEB):c.10802A>G (p.His3601Arg) rs371568550 0.00013
NM_001164508.2(NEB):c.2639G>A (p.Arg880His) rs202026890 0.00013
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg) rs727505316 0.00013
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe) rs370080086 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001365999.1(SZT2):c.2228A>G (p.His743Arg) rs545593466 0.00013
NM_001367624.2(ZNF469):c.10889G>A (p.Arg3630His) rs758123475 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.646+15T>G rs200821435 0.00013
NM_001943.5(DSG2):c.45+9C>G rs376573409 0.00013
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp) rs202120238 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_003002.4(SDHD):c.255G>C (p.Leu85Phe) rs199517389 0.00013
NM_004006.3(DMD):c.357+5G>A rs778431187 0.00013
NM_004408.4(DNM1):c.849+6C>T rs527412689 0.00013
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln) rs111368396 0.00013
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00013
NM_004646.4(NPHS1):c.2591G>A (p.Arg864His) rs143986233 0.00013
NM_005045.4(RELN):c.5398C>G (p.Leu1800Val) rs150148125 0.00013
NM_005585.5(SMAD6):c.194C>G (p.Pro65Arg) rs990598927 0.00013
NM_006904.7(PRKDC):c.11591G>A (p.Arg3864His) rs373169292 0.00013
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451 0.00013
NM_014639.4(SKIC3):c.4514T>C (p.Leu1505Ser) rs376720108 0.00013
NM_014855.3(AP5Z1):c.2287G>A (p.Val763Met) rs147369435 0.00013
NM_018112.3(TMEM38B):c.836C>A (p.Ser279Ter) rs140344242 0.00013
NM_018979.4(WNK1):c.3188C>T (p.Thr1063Ile) rs201379287 0.00013
NM_022124.6(CDH23):c.5187G>A (p.Thr1729=) rs376386945 0.00013
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn) rs372921526 0.00013
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val) rs201574031 0.00013
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp) rs368082152 0.00013
NM_025074.7(FRAS1):c.5039G>A (p.Arg1680Gln) rs201110914 0.00013
NM_058004.4(PI4KA):c.4666G>A (p.Val1556Met) rs144363917 0.00013
NM_080911.3(UNG):c.593A>G (p.His198Arg) rs201388456 0.00013
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val) rs142146981 0.00013
NM_153033.5(KCTD7):c.362G>T (p.Arg121Leu) rs199624315 0.00013
NM_174936.4(PCSK9):c.1495C>T (p.Arg499Cys) rs201395805 0.00013
NM_199242.3(UNC13D):c.2180G>A (p.Arg727Gln) rs747390615 0.00013
NM_199242.3(UNC13D):c.2588G>A (p.Gly863Asp) rs140184929 0.00013
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00012
NM_000053.4(ATP7B):c.347T>C (p.Ile116Thr) rs199773340 0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000104.4(CYP1B1):c.1033C>T (p.Leu345Phe) rs66583685 0.00012
NM_000132.4(F8):c.222G>A (p.Thr74=) rs1232517683 0.00012
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val) rs550821697 0.00012
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000138.5(FBN1):c.185G>A (p.Arg62His) rs145942328 0.00012
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys) rs587782651 0.00012
NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn) rs202127217 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000382.3(ALDH3A2):c.128C>T (p.Thr43Met) rs112971072 0.00012
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg) rs373997222 0.00012
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552 0.00012
NM_000517.6(HBA2):c.409C>A (p.Leu137Met) rs41364652 0.00012
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) rs369117208 0.00012
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met) rs148134639 0.00012
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001042492.3(NF1):c.2191C>T (p.Leu731Phe) rs185204667 0.00012
NM_001164508.2(NEB):c.10735C>G (p.Leu3579Val) rs149384863 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.1943G>C (p.Arg648Thr) rs550441902 0.00012
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00012
NM_001267550.2(TTN):c.4160T>C (p.Leu1387Pro) rs115303497 0.00012
NM_001267550.2(TTN):c.43244G>A (p.Ser14415Asn) rs370342831 0.00012
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met) rs376363284 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001349253.2(SCN11A):c.4282G>A (p.Gly1428Ser) rs201336927 0.00012
NM_001349253.2(SCN11A):c.712C>T (p.Arg238Cys) rs146942592 0.00012
NM_001365308.1(BMPER):c.1792T>C (p.Tyr598His) rs570211162 0.00012
NM_001369268.1(ACAN):c.1975C>G (p.Gln659Glu) rs181923062 0.00012
NM_001377.3(DYNC2H1):c.12268G>A (p.Val4090Ile) rs376545196 0.00012
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001852.4(COL9A2):c.217C>T (p.Pro73Ser) rs375150574 0.00012
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_002693.3(POLG):c.1403A>G (p.Asn468Ser) rs368614463 0.00012
NM_003332.4(TYROBP):c.310G>A (p.Asp104Asn) rs377005575 0.00012
NM_003573.2(LTBP4):c.25T>C (p.Phe9Leu) rs769281501 0.00012
NM_003673.4(TCAP):c.209G>A (p.Arg70Gln) rs552865793 0.00012
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) rs539087982 0.00012
NM_004168.4(SDHA):c.205G>A (p.Ala69Thr) rs370481102 0.00012
NM_004360.5(CDH1):c.1143G>C (p.Lys381Asn) rs143727462 0.00012
NM_004369.4(COL6A3):c.2525T>C (p.Phe842Ser) rs369930821 0.00012
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_005188.4(CBL):c.2060C>T (p.Pro687Leu) rs146705974 0.00012
NM_005199.5(CHRNG):c.1421G>A (p.Arg474His) rs16829216 0.00012
NM_006767.4(LZTR1):c.1449+3G>A rs369605093 0.00012
NM_014252.4(SLC25A15):c.706A>G (p.Arg236Gly) rs142236568 0.00012
NM_014780.5(CUL7):c.25G>C (p.Glu9Gln) rs375192347 0.00012
NM_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr) rs146122441 0.00012
NM_020366.4(RPGRIP1):c.1904C>G (p.Ala635Gly) rs200325360 0.00012
NM_021927.3(GUF1):c.1432A>G (p.Ile478Val) rs142349872 0.00012
NM_024700.4(SNIP1):c.559C>T (p.Arg187Trp) rs186332019 0.00012
NM_032040.5(CCDC8):c.1555del (p.Arg519fs) rs745914961 0.00012
NM_053025.4(MYLK):c.2060C>T (p.Pro687Leu) rs144923036 0.00012
NM_053025.4(MYLK):c.4336G>A (p.Glu1446Lys) rs146682969 0.00012
NM_058216.3(RAD51C):c.200A>G (p.Glu67Gly) rs375451955 0.00012
NM_152564.5(VPS13B):c.9131A>C (p.Glu3044Ala) rs376652526 0.00012
NM_152618.3(BBS12):c.1237C>G (p.Leu413Val) rs758217005 0.00012
NM_152783.5(D2HGDH):c.997+6G>A rs749247772 0.00012
NM_194248.3(OTOF):c.2523+5G>A rs201745796 0.00012
NM_199242.3(UNC13D):c.2191G>A (p.Val731Met) rs377549461 0.00012
NM_206933.4(USH2A):c.7924A>G (p.Ile2642Val) rs143523460 0.00012
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr) rs730881342 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000053.4(ATP7B):c.1195G>A (p.Ala399Thr) rs370203816 0.00011
NM_000053.4(ATP7B):c.1915C>T (p.His639Tyr) rs200728096 0.00011
NM_000064.4(C3):c.2047+7G>A rs770932217 0.00011
NM_000070.3(CAPN3):c.1984G>T (p.Ala662Ser) rs187054121 0.00011
NM_000083.3(CLCN1):c.1357C>T (p.Arg453Trp) rs376026619 0.00011
NM_000090.4(COL3A1):c.1694C>A (p.Pro565His) rs144260440 0.00011
NM_000091.5(COL4A3):c.3227C>T (p.Pro1076Leu) rs200984988 0.00011
NM_000104.4(CYP1B1):c.319C>G (p.Leu107Val) rs56339482 0.00011
NM_000111.3(SLC26A3):c.1193C>T (p.Ser398Phe) rs143839547 0.00011
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565 0.00011
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met) rs63750370 0.00011
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg) rs150440246 0.00011
NM_000218.3(KCNQ1):c.1388G>C (p.Ser463Thr) rs184636161 0.00011
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000243.3(MEFV):c.1341G>C (p.Lys447Asn) rs756322372 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser) rs150478207 0.00011
NM_000251.3(MSH2):c.1386+94A>G rs546035846 0.00011
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val) rs63750684 0.00011
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys) rs752200396 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu) rs199792389 0.00011
NM_000314.8(PTEN):c.-835C>T rs587779994 0.00011
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790 0.00011
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys) rs144705160 0.00011
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp) rs201807974 0.00011
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val) rs201140528 0.00011
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met) rs143860237 0.00011
NM_000492.4(CFTR):c.2153C>G (p.Pro718Arg) rs142432539 0.00011
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3415A>G (p.Ile1139Val) rs397508556 0.00011
NM_000492.4(CFTR):c.806T>C (p.Ile269Thr) rs201016820 0.00011
NM_000500.9(CYP21A2):c.371C>T (p.Thr124Ile) rs566065375 0.00011
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) rs146938346 0.00011
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216 0.00011
NM_000631.5(NCF4):c.758+50C>T rs201021542 0.00011
NM_000642.3(AGL):c.341G>A (p.Arg114His) rs150146360 0.00011
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001017995.3(SH3PXD2B):c.262C>T (p.Arg88Trp) rs191035319 0.00011
NM_001099287.2(NIPAL4):c.890T>C (p.Ile297Thr) rs369432304 0.00011
NM_001110556.2(FLNA):c.5764G>A (p.Val1922Met) rs371366175 0.00011
NM_001127898.4(CLCN5):c.1635G>T (p.Gln545His) rs148124447 0.00011
NM_001142800.2(EYS):c.1349A>C (p.Asn450Thr) rs138255012 0.00011
NM_001164508.2(NEB):c.19966C>T (p.Arg6656Cys) rs527250558 0.00011
NM_001257180.2(SLC20A2):c.295G>A (p.Ala99Thr) rs149761291 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.45617-13C>T rs570853409 0.00011
NM_001267550.2(TTN):c.52702A>G (p.Ile17568Val) rs377571654 0.00011
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) rs116142642 0.00011
NM_001267550.2(TTN):c.61484G>A (p.Arg20495His) rs775137607 0.00011
NM_001267550.2(TTN):c.63233A>C (p.Lys21078Thr) rs879227779 0.00011
NM_001267550.2(TTN):c.66844T>C (p.Tyr22282His) rs745992545 0.00011
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00011
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys) rs368574470 0.00011
NM_001267550.2(TTN):c.97193-16T>G rs371317486 0.00011
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met) rs372302484 0.00011
NM_001367561.1(DOCK7):c.4429A>G (p.Thr1477Ala) rs777656293 0.00011
NM_001377299.1(NDUFS2):c.875T>C (p.Met292Thr) rs150667550 0.00011
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys) rs201874056 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001379500.1(COL18A1):c.2744G>A (p.Arg915Gln) rs570708678 0.00011
NM_001382567.1(STIM1):c.1847C>T (p.Ala616Val) rs750326949 0.00011
NM_001384474.1(LOXHD1):c.1759C>T (p.Arg587Trp) rs540100675 0.00011
NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu) rs150774756 0.00011
NM_001846.4(COL4A2):c.1978+4T>C rs372577230 0.00011
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_001943.5(DSG2):c.2360A>G (p.Asp787Gly) rs369868954 0.00011
NM_001953.5(TYMP):c.1441C>T (p.Gln481Ter) rs200735968 0.00011
NM_002335.4(LRP5):c.3245A>G (p.Tyr1082Cys) rs113804402 0.00011
NM_002361.4(MAG):c.1292T>A (p.Leu431Gln) rs199969989 0.00011
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_002474.3(MYH11):c.3530C>T (p.Thr1177Met) rs201391947 0.00011
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln) rs34321232 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 0.00011
NM_003982.4(SLC7A7):c.475C>T (p.Arg159Cys) rs11568437 0.00011
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004628.5(XPC):c.1178G>A (p.Arg393Gln) rs376220736 0.00011
NM_004990.4(MARS1):c.1177G>A (p.Ala393Thr) rs141340466 0.00011
NM_005188.4(CBL):c.2360G>A (p.Arg787His) rs200220863 0.00011
NM_005359.6(SMAD4):c.466A>T (p.Met156Leu) rs534355764 0.00011
NM_005585.5(SMAD6):c.908C>T (p.Thr303Met) rs146363463 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_006231.4(POLE):c.4169G>A (p.Arg1390His) rs200776293 0.00011
NM_006231.4(POLE):c.6050G>A (p.Arg2017His) rs144178150 0.00011
NM_006231.4(POLE):c.6658-7C>A rs531482240 0.00011
NM_006270.5(RRAS):c.631G>A (p.Gly211Arg) rs369588682 0.00011
NM_012114.3(CASP14):c.449T>A (p.Met150Lys) rs370502147 0.00011
NM_014714.4(IFT140):c.634+6G>C rs368229365 0.00011
NM_015166.4(MLC1):c.65G>A (p.Arg22Gln) rs184241759 0.00011
NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met) rs375101491 0.00011
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00011
NM_018196.4(TMLHE):c.248C>T (p.Ala83Val) rs149189246 0.00011
NM_018941.4(CLN8):c.599T>C (p.Met200Thr) rs368646951 0.00011
NM_020320.5(RARS2):c.1366C>T (p.Arg456Cys) rs147844153 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_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_022124.6(CDH23):c.1919C>T (p.Thr640Met) rs199796910 0.00011
NM_024809.5(TCTN2):c.1234+5C>G rs201382614 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025216.3(WNT10A):c.427C>T (p.His143Tyr) rs202024965 0.00011
NM_030777.4(SLC2A10):c.1204G>A (p.Ala402Thr) rs147710229 0.00011
NM_032040.5(CCDC8):c.1609C>T (p.Gln537Ter) rs144181069 0.00011
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054 0.00011
NM_032119.4(ADGRV1):c.8651T>C (p.Val2884Ala) rs111033517 0.00011
NM_033028.5(BBS4):c.1541_1551del (p.Glu514fs) rs748758201 0.00011
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala) rs137901165 0.00011
NM_138694.4(PKHD1):c.8407T>C (p.Cys2803Arg) rs398124495 0.00011
NM_139276.3(STAT3):c.2082T>A (p.His694Gln) rs139701269 0.00011
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys) rs369292480 0.00011
NM_153240.5(NPHP3):c.3662C>T (p.Ala1221Val) rs202048210 0.00011
NM_153676.4(USH1C):c.407G>A (p.Arg136Gln) rs558663132 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_177924.5(ASAH1):c.219A>G (p.Leu73=) rs141785977 0.00011
NM_178170.3(NEK8):c.583G>A (p.Glu195Lys) rs752331372 0.00011
NM_198569.3(ADGRG6):c.2143G>A (p.Gly715Arg) rs372427661 0.00011
NM_206933.4(USH2A):c.188G>A (p.Arg63Gln) rs369806765 0.00011
NM_000038.6(APC):c.4918C>T (p.Arg1640Trp) rs373440614 0.00010
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser) rs375754332 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000053.4(ATP7B):c.3243+5G>A rs373193482 0.00010
NM_000053.4(ATP7B):c.3275C>T (p.Thr1092Met) rs368545738 0.00010
NM_000057.4(BLM):c.2839A>G (p.Ile947Val) rs189925962 0.00010
NM_000070.3(CAPN3):c.1524+3G>A rs374188055 0.00010
NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe) rs749895856 0.00010
NM_000124.4(ERCC6):c.565A>G (p.Thr189Ala) rs138822457 0.00010
NM_000137.4(FAH):c.1193G>A (p.Gly398Glu) rs141946827 0.00010
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800 0.00010
NM_000159.4(GCDH):c.510G>C (p.Lys170Asn) rs200785120 0.00010
NM_000171.4(GLRA1):c.89G>A (p.Arg30His) rs199910297 0.00010
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys) rs542838372 0.00010
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys) rs372990379 0.00010
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934 0.00010
NM_000243.3(MEFV):c.1043G>A (p.Arg348His) rs104895198 0.00010
NM_000275.3(OCA2):c.1363A>G (p.Arg455Gly) rs200764804 0.00010
NM_000277.3(PAH):c.280A>G (p.Ile94Val) rs528078207 0.00010
NM_000286.3(PEX12):c.737C>A (p.Ser246Tyr) rs200413804 0.00010
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000344.4(SMN1):c.*1G>A rs763144752 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_000383.4(AIRE):c.1450G>A (p.Val484Met) rs367966318 0.00010
NM_000383.4(AIRE):c.371C>T (p.Pro124Leu) rs193922417 0.00010
NM_000441.2(SLC26A4):c.415+4A>G rs368280107 0.00010
NM_000451.4(SHOX):c.545-10T>C rs370327147 0.00010
NM_000487.6(ARSA):c.511G>A (p.Asp171Asn) rs74315466 0.00010
NM_000492.4(CFTR):c.2279C>T (p.Thr760Met) rs397508359 0.00010
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro) rs565971160 0.00010
NM_000492.4(CFTR):c.92G>T (p.Arg31Leu) rs149353983 0.00010
NM_000518.5(HBB):c.*65C>G rs1490059160 0.00010
NM_000531.6(OTC):c.127C>A (p.Leu43Ile) rs72554309 0.00010
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000784.4(CYP27A1):c.1017G>A (p.Thr339=) rs200553205 0.00010
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His) rs564930066 0.00010
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His) rs147754007 0.00010
NM_001048174.2(MUTYH):c.640G>T (p.Val214Leu) rs769766446 0.00010
NM_001077418.3(TMEM231):c.559G>A (p.Gly187Ser) rs563492919 0.00010
NM_001080517.3(SETD5):c.2426A>G (p.Tyr809Cys) rs1270531724 0.00010
NM_001081.4(CUBN):c.6268A>G (p.Lys2090Glu) rs201374966 0.00010
NM_001110556.2(FLNA):c.7135T>C (p.Tyr2379His) rs781881872 0.00010
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp) rs199870606 0.00010
NM_001135022.2(ELMOD3):c.298C>T (p.Gln100Ter) rs753265000 0.00010
NM_001164277.2(SLC37A4):c.871+6C>T rs377101167 0.00010
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln) rs201954720 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00010
NM_001267550.2(TTN):c.33286C>T (p.Arg11096Cys) rs377710763 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser) rs551538420 0.00010
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.81869G>C (p.Gly27290Ala) rs200240728 0.00010
NM_001267550.2(TTN):c.82061T>G (p.Val27354Gly) rs368023868 0.00010
NM_001267550.2(TTN):c.84448T>C (p.Tyr28150His) rs397517727 0.00010
NM_001267550.2(TTN):c.84946G>C (p.Glu28316Gln) rs183238138 0.00010
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00010
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00010
NM_001360.3(DHCR7):c.1349G>A (p.Arg450His) rs542266962 0.00010
NM_001367624.2(ZNF469):c.6809C>A (p.Ser2270Tyr) rs273585624 0.00010
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685 0.00010
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_001711.6(BGN):c.838C>T (p.Arg280Trp) rs370486954 0.00010
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_002435.3(MPI):c.748G>A (p.Gly250Ser) rs748090636 0.00010
NM_002474.3(MYH11):c.5406C>G (p.His1802Gln) rs746211825 0.00010
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_002769.5(PRSS1):c.235G>A (p.Glu79Lys) rs111033564 0.00010
NM_002769.5(PRSS1):c.283C>T (p.Arg95Cys) rs201775810 0.00010
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys) rs587780102 0.00010
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys) rs774568101 0.00010
NM_003172.4(SURF1):c.563A>G (p.Asn188Ser) rs200702528 0.00010
NM_003611.3(OFD1):c.1128A>C (p.Lys376Asn) rs758883184 0.00010
NM_003640.5(ELP1):c.3931+1G>T rs143674809 0.00010
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_003849.4(SUCLG1):c.22G>T (p.Ala8Ser) rs374871796 0.00010
NM_004004.6(GJB2):c.37G>A (p.Val13Met) rs768130937 0.00010
NM_004998.4(MYO1E):c.1513C>A (p.His505Asn) rs139820649 0.00010
NM_005585.5(SMAD6):c.277A>T (p.Met93Leu) rs781686740 0.00010
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_006231.4(POLE):c.556G>A (p.Ala186Thr) rs375213599 0.00010
NM_006514.4(SCN10A):c.1661T>C (p.Leu554Pro) rs138404783 0.00010
NM_012448.4(STAT5B):c.2161G>A (p.Gly721Ser) rs750095303 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_015909.4(NBAS):c.6827C>T (p.Thr2276Met) rs144615326 0.00010
NM_017952.6(PTCD3):c.805-3C>T rs199732602 0.00010
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His) rs367592401 0.00010
NM_022124.6(CDH23):c.3115G>A (p.Val1039Met) rs781597943 0.00010
NM_022725.4(FANCF):c.1087C>T (p.Gln363Ter) rs201285915 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_024747.6(HPS6):c.2326T>C (p.Ter776Arg) rs200206362 0.00010
NM_032119.4(ADGRV1):c.11581-2dup rs745783842 0.00010
NM_032119.4(ADGRV1):c.3934G>A (p.Val1312Met) rs199552258 0.00010
NM_053025.4(MYLK):c.1255A>C (p.Lys419Gln) rs773391076 0.00010
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246 0.00010
NM_181507.2(HPS5):c.1127C>T (p.Thr376Ile) rs764861032 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.1733T>C (p.Met578Thr) rs375806217 0.00009
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met) rs192525493 0.00009
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val) rs202210810 0.00009
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.332-3T>C rs376116157 0.00009
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr) rs2229021 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000055.4(BCHE):c.676A>G (p.Ser226Gly) rs370077923 0.00009
NM_000059.4(BRCA2):c.10087A>G (p.Ile3363Val) rs55881945 0.00009
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587 0.00009
NM_000059.4(BRCA2):c.3218A>G (p.Gln1073Arg) rs80358566 0.00009
NM_000059.4(BRCA2):c.7006C>T (p.Arg2336Cys) rs431825347 0.00009
NM_000059.4(BRCA2):c.7865A>G (p.Asn2622Ser) rs142899125 0.00009
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro) rs372481694 0.00009
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met) rs777376620 0.00009
NM_000104.4(CYP1B1):c.592G>A (p.Val198Ile) rs59472972 0.00009
NM_000117.3(EMD):c.470G>A (p.Arg157Gln) rs148515772 0.00009
NM_000133.4(F9):c.1345C>T (p.Arg449Trp) rs757996262 0.00009
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln) rs370346767 0.00009
NM_000138.5(FBN1):c.5225-13T>G rs367786211 0.00009
NM_000138.5(FBN1):c.8141C>T (p.Ala2714Val) rs772795413 0.00009
NM_000152.5(GAA):c.546+6C>T rs375727055 0.00009
NM_000154.2(GALK1):c.743G>A (p.Arg248Gln) rs368904895 0.00009
NM_000157.4(GBA1):c.605G>A (p.Arg202Gln) rs398123531 0.00009
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_000170.3(GLDC):c.2378A>T (p.Asp793Val) rs150833015 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp) rs201268637 0.00009
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu) rs587779074 0.00009
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly) rs148192104 0.00009
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro) rs63751107 0.00009
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys) rs145677314 0.00009
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_000314.8(PTEN):c.892C>G (p.Gln298Glu) rs371387815 0.00009
NM_000335.5(SCN5A):c.368C>T (p.Ala123Val) rs765699394 0.00009
NM_000335.5(SCN5A):c.3724G>A (p.Asp1242Asn) rs199473599 0.00009
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile) rs199473278 0.00009
NM_000337.6(SGCD):c.160A>G (p.Ile54Val) rs200671745 0.00009
NM_000350.3(ABCA4):c.2431C>T (p.Arg811Cys) rs758777521 0.00009
NM_000360.4(TH):c.1358G>A (p.Arg453His) rs759599321 0.00009
NM_000384.3(APOB):c.10402A>G (p.Met3468Val) rs149887185 0.00009
NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) rs368278927 0.00009
NM_000388.4(CASR):c.1510G>A (p.Val504Met) rs201536450 0.00009
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884 0.00009
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) rs145465528 0.00009
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080 0.00009
NM_000448.3(RAG1):c.2753G>A (p.Arg918His) rs368073575 0.00009
NM_000465.4(BARD1):c.1127C>T (p.Ser376Leu) rs587782333 0.00009
NM_000465.4(BARD1):c.764A>G (p.Asn255Ser) rs138904906 0.00009
NM_000466.3(PEX1):c.3130G>A (p.Gly1044Arg) rs371136331 0.00009
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603 0.00009
NM_000492.4(CFTR):c.1454G>C (p.Ser485Thr) rs143980575 0.00009
NM_000492.4(CFTR):c.1731C>T (p.Tyr577=) rs55928397 0.00009
NM_000492.4(CFTR):c.2909-6T>C rs369612622 0.00009
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val) rs374403559 0.00009
NM_000492.4(CFTR):c.332C>T (p.Pro111Leu) rs140502196 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000492.4(CFTR):c.889C>T (p.Arg297Trp) rs397508814 0.00009
NM_000512.5(GALNS):c.857C>T (p.Thr286Met) rs137927658 0.00009
NM_000518.4(HBB):c.-132G>T rs887821047 0.00009
NM_000518.5(HBB):c.316-179A>C rs185607297 0.00009
NM_000527.5(LDLR):c.1586+15C>T rs371716068 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000531.6(OTC):c.385C>T (p.Arg129Cys) rs140046498 0.00009
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00009
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn) rs773895173 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_000552.5(VWF):c.6908C>T (p.Thr2303Met) rs149432685 0.00009
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888 0.00009
NM_000781.3(CYP11A1):c.269+4A>G rs199573967 0.00009
NM_001001548.3(CD36):c.875G>T (p.Arg292Ile) rs200757788 0.00009
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln) rs727503404 0.00009
NM_001035.3(RYR2):c.463+9C>T rs559545973 0.00009
NM_001035.3(RYR2):c.6441-8C>G rs770177812 0.00009
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00009
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val) rs200872702 0.00009
NM_001048174.2(MUTYH):c.836G>A (p.Arg279Gln) rs140156029 0.00009
NM_001079802.2(FKTN):c.1172+13T>C rs768792475 0.00009
NM_001083614.2(EARS2):c.1547G>A (p.Arg516Gln) rs201727231 0.00009
NM_001110792.2(MECP2):c.1363G>A (p.Ala455Thr) rs193922677 0.00009
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys) rs515726212 0.00009
NM_001126049.2(KLLN):c.-1036G>A rs567739104 0.00009
NM_001126108.2(SLC12A3):c.2920G>A (p.Val974Ile) rs373092349 0.00009
NM_001130987.2(DYSF):c.5609C>T (p.Thr1870Met) rs199649417 0.00009
NM_001164508.2(NEB):c.1152+5G>A rs111404077 0.00009
NM_001164508.2(NEB):c.194C>T (p.Pro65Leu) rs375909006 0.00009
NM_001243133.2(NLRP3):c.526C>T (p.Arg176Trp) rs201867990 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001257291.2(SLC9A7):c.923C>T (p.Ala308Val) rs146304021 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=) rs200984007 0.00009
NM_001267550.2(TTN):c.17437T>A (p.Cys5813Ser) rs368692616 0.00009
NM_001267550.2(TTN):c.24227-16G>A rs377340591 0.00009
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00009
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala) rs199561793 0.00009
NM_001267550.2(TTN):c.39212-17A>G rs770122983 0.00009
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His) rs368988689 0.00009
NM_001267550.2(TTN):c.49070C>T (p.Ala16357Val) rs199768159 0.00009
NM_001267550.2(TTN):c.54109C>T (p.Arg18037Trp) rs201623791 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.7058-17C>T rs572098454 0.00009
NM_001267550.2(TTN):c.7597A>G (p.Ile2533Val) rs372407708 0.00009
NM_001267550.2(TTN):c.88285A>G (p.Ile29429Val) rs373738818 0.00009
NM_001267550.2(TTN):c.93860T>C (p.Phe31287Ser) rs374887049 0.00009
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln) rs782065240 0.00009
NM_001367624.2(ZNF469):c.8426C>T (p.Pro2809Leu) rs1054270904 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_001377299.1(NDUFS2):c.1105G>A (p.Ala369Thr) rs200509897 0.00009
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg) rs202114540 0.00009
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu) rs914898490 0.00009
NM_001378454.1(ALMS1):c.9908-13C>T rs373325114 0.00009
NM_001382567.1(STIM1):c.408G>C (p.Glu136Asp) rs200648767 0.00009
NM_001384732.1(CPLANE1):c.6512G>A (p.Arg2171Gln) rs377742483 0.00009
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys) rs200077114 0.00009
NM_001606.5(ABCA2):c.3883-3C>T rs542477663 0.00009
NM_001943.5(DSG2):c.379-3C>T rs376556524 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp) rs751153777 0.00009
NM_002972.4(SBF1):c.1399G>A (p.Val467Ile) rs192339446 0.00009
NM_003119.4(SPG7):c.584A>G (p.Tyr195Cys) rs145776296 0.00009
NM_003172.4(SURF1):c.17C>T (p.Ala6Val) rs587727919 0.00009
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile) rs767932680 0.00009
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys) rs374886575 0.00009
NM_004004.6(GJB2):c.487A>G (p.Met163Val) rs80338949 0.00009
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser) rs1244241099 0.00009
NM_004130.4(GYG1):c.788A>C (p.Gln263Pro) rs746892694 0.00009
NM_004273.5(CHST3):c.1044C>G (p.Ile348Met) rs3740128 0.00009
NM_004329.3(BMPR1A):c.1348G>A (p.Val450Met) rs55932635 0.00009
NM_004415.4(DSP):c.5513G>A (p.Arg1838His) rs377715841 0.00009
NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln) rs774866184 0.00009
NM_004977.3(KCNC3):c.804G>T (p.Trp268Cys) rs1015358035 0.00009
NM_005188.4(CBL):c.1566T>C (p.Ala522=) rs371065029 0.00009
NM_005188.4(CBL):c.590+20A>G rs769677676 0.00009
NM_005476.7(GNE):c.1412-4G>A rs146067766 0.00009
NM_005535.3(IL12RB1):c.128C>T (p.Ser43Leu) rs189309495 0.00009
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp) rs558267822 0.00009
NM_005633.4(SOS1):c.214-17T>C rs369722808 0.00009
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251 0.00009
NM_005751.5(AKAP9):c.2930A>G (p.Asn977Ser) rs369206894 0.00009
NM_005751.5(AKAP9):c.6905C>T (p.Thr2302Met) rs368444006 0.00009
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_006506.5(RASA2):c.1674+16T>A rs769778924 0.00009
NM_006576.4(AVIL):c.1729G>A (p.Gly577Ser) rs748204951 0.00009
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe) rs587780189 0.00009
NM_007289.4(MME):c.2067C>A (p.Asn689Lys) rs146536523 0.00009
NM_014244.5(ADAMTS2):c.3088+15G>A rs910578729 0.00009
NM_014251.3(SLC25A13):c.848+3A>C rs369402461 0.00009
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) rs554065722 0.00009
NM_014727.3(KMT2B):c.6760C>A (p.Pro2254Thr) rs763536557 0.00009
NM_015046.7(SETX):c.2750T>C (p.Met917Thr) rs376022544 0.00009
NM_015311.3(OBSL1):c.5060T>C (p.Leu1687Pro) rs757858688 0.00009
NM_015474.4(SAMHD1):c.167G>A (p.Arg56His) rs147891080 0.00009
NM_016203.4(PRKAG2):c.1644G>A (p.Ser548=) rs376450705 0.00009
NM_016553.5(NUP62):c.796G>A (p.Gly266Ser) rs200690516 0.00009
NM_017534.6(MYH2):c.2546C>T (p.Ala849Val) rs374630865 0.00009
NM_017777.4(MKS1):c.858+6C>T rs368774719 0.00009
NM_018112.3(TMEM38B):c.818A>G (p.Lys273Arg) rs146026425 0.00009
NM_019112.4(ABCA7):c.3578-2A>G rs376824416 0.00009
NM_020361.5(CPA6):c.748-1G>A rs201265791 0.00009
NM_020365.5(EIF2B3):c.590C>T (p.Thr197Met) rs749213552 0.00009
NM_020631.6(PLEKHG5):c.2885C>T (p.Ser962Leu) rs369440409 0.00009
NM_020778.5(ALPK3):c.2181G>C (p.Glu727Asp) rs56191073 0.00009
NM_020921.4(NIN):c.3403G>A (p.Val1135Ile) rs150722174 0.00009
NM_021098.3(CACNA1H):c.6023G>T (p.Ser2008Ile) rs750277154 0.00009
NM_022114.4(PRDM16):c.1537G>A (p.Gly513Ser) rs200278862 0.00009
NM_022124.6(CDH23):c.3029G>A (p.Arg1010His) rs370107953 0.00009
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val) rs375829761 0.00009
NM_022725.4(FANCF):c.860A>G (p.Tyr287Cys) rs750623273 0.00009
NM_024649.5(BBS1):c.1110+15C>T rs371084544 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_025257.3(SLC44A4):c.22G>A (p.Glu8Lys) rs374954632 0.00009
NM_032119.4(ADGRV1):c.8779G>A (p.Val2927Ile) rs547397177 0.00009
NM_033159.4(HYAL1):c.1201C>T (p.Arg401Trp) rs202067357 0.00009
NM_053025.4(MYLK):c.3749G>A (p.Arg1250His) rs139817477 0.00009
NM_054012.4(ASS1):c.19G>A (p.Val7Met) rs149938546 0.00009
NM_133259.4(LRPPRC):c.2210+4A>C rs190007694 0.00009
NM_133259.4(LRPPRC):c.3430C>T (p.Arg1144Cys) rs760016065 0.00009
NM_138694.4(PKHD1):c.1835A>G (p.His612Arg) rs369932370 0.00009
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_173076.3(ABCA12):c.1446A>C (p.Glu482Asp) rs368135271 0.00009
NM_173076.3(ABCA12):c.2592+6A>C rs375214951 0.00009
NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr) rs121909657 0.00009
NM_194248.3(OTOF):c.4559G>A (p.Arg1520Gln) rs80356601 0.00009
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro) rs745693690 0.00009
NM_207346.3(TSEN54):c.1173G>C (p.Gln391His) rs577958629 0.00009
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.4329C>A (p.His1443Gln) rs377065665 0.00008
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala) rs1232551114 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306 0.00008
NM_000057.4(BLM):c.3310G>A (p.Gly1104Ser) rs141269464 0.00008
NM_000059.4(BRCA2):c.9872C>G (p.Ser3291Cys) rs200210279 0.00008
NM_000075.4(CDK4):c.886C>T (p.His296Tyr) rs2227954 0.00008
NM_000081.4(LYST):c.9520G>A (p.Val3174Ile) rs199672291 0.00008
NM_000091.5(COL4A3):c.3755C>T (p.Ala1252Val) rs761179248 0.00008
NM_000104.4(CYP1B1):c.859G>A (p.Ala287Thr) rs201544164 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn) rs758390382 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000237.3(LPL):c.134C>A (p.Thr45Asn) rs143944126 0.00008
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000249.4(MLH1):c.1558+5G>A rs199935667 0.00008
NM_000251.3(MSH2):c.820A>G (p.Ile274Val) rs371944271 0.00008
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_000337.6(SGCD):c.566A>G (p.Lys189Arg) rs538002169 0.00008
NM_000350.3(ABCA4):c.1552G>A (p.Glu518Lys) rs369860406 0.00008
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met) rs201351976 0.00008
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000400.4(ERCC2):c.733G>A (p.Asp245Asn) rs777291413 0.00008
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn) rs372592018 0.00008
NM_000455.5(STK11):c.920+5G>A rs587780013 0.00008
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val) rs376727038 0.00008
NM_000465.4(BARD1):c.1985T>G (p.Leu662Arg) rs556775078 0.00008
NM_000477.7(ALB):c.725G>A (p.Arg242His) rs75002628 0.00008
NM_000492.4(CFTR):c.125C>T (p.Ser42Phe) rs143456784 0.00008
NM_000492.4(CFTR):c.2173G>A (p.Glu725Lys) rs199791061 0.00008
NM_000492.4(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430 0.00008
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr) rs184724618 0.00008
NM_000501.4(ELN):c.1358-198G>A rs192461213 0.00008
NM_000518.5(HBB):c.*91G>A rs193922549 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000540.3(RYR1):c.2488C>T (p.Arg830Trp) rs142548565 0.00008
NM_000540.3(RYR1):c.4747C>T (p.Arg1583Cys) rs754476250 0.00008
NM_000543.5(SMPD1):c.1253G>A (p.Arg418Gln) rs767722360 0.00008
NM_000551.4(VHL):c.5C>T (p.Pro2Leu) rs111246617 0.00008
NM_000552.5(VWF):c.7724G>A (p.Arg2575His) rs373321657 0.00008
NM_000631.5(NCF4):c.179G>A (p.Arg60His) rs369847561 0.00008
NM_000642.3(AGL):c.1423+3A>G rs766117687 0.00008
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val) rs139924723 0.00008
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile) rs371086868 0.00008
NM_001048174.2(MUTYH):c.1333G>A (p.Ala445Thr) rs192816572 0.00008
NM_001048174.2(MUTYH):c.1400G>A (p.Arg467His) rs144111588 0.00008
NM_001048174.2(MUTYH):c.1504G>T (p.Asp502Tyr) rs147923905 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys) rs375665454 0.00008
NM_001164508.2(NEB):c.19993C>T (p.Pro6665Ser) rs751724804 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_001244710.2(GFPT1):c.1597+5A>G rs373420002 0.00008
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_001267550.2(TTN):c.20837-6T>C rs761982704 0.00008
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys) rs369195237 0.00008
NM_001267550.2(TTN):c.2776-14T>C rs201611946 0.00008
NM_001267550.2(TTN):c.3713C>A (p.Thr1238Asn) rs147020824 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.63137T>C (p.Ile21046Thr) rs368868562 0.00008
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp) rs199755820 0.00008
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759 0.00008
NM_001267550.2(TTN):c.95320A>G (p.Lys31774Glu) rs762265902 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_001384474.1(LOXHD1):c.2317C>T (p.Arg773Cys) rs376186520 0.00008
NM_001904.4(CTNNB1):c.1803+3A>G rs771700200 0.00008
NM_002087.4(GRN):c.229G>A (p.Val77Ile) rs148531161 0.00008
NM_002150.3(HPD):c.446A>G (p.Lys149Arg) rs374690828 0.00008
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu) rs371859345 0.00008
NM_002474.3(MYH11):c.3293+5C>T rs766421052 0.00008
NM_002485.5(NBN):c.671G>A (p.Gly224Glu) rs199845467 0.00008
NM_002529.4(NTRK1):c.2057G>A (p.Arg686His) rs754452975 0.00008
NM_002769.5(PRSS1):c.284G>A (p.Arg95His) rs375820192 0.00008
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg) rs201313861 0.00008
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser) rs587780106 0.00008
NM_005215.4(DCC):c.2260G>A (p.Val754Met) rs775565634 0.00008
NM_005518.4(HMGCS2):c.821G>A (p.Arg274His) rs370058829 0.00008
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp) rs372000848 0.00008
NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala) rs786201205 0.00008
NM_005993.5(TBCD):c.2178+5A>G rs371823710 0.00008
NM_006031.6(PCNT):c.6625G>A (p.Ala2209Thr) rs769183047 0.00008
NM_006096.4(NDRG1):c.1051C>T (p.Arg351Ter) rs765621411 0.00008
NM_006231.4(POLE):c.1868A>G (p.Tyr623Cys) rs150564856 0.00008
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys) rs200129338 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_007194.4(CHEK2):c.1259+8A>G rs368388249 0.00008
NM_007194.4(CHEK2):c.134C>T (p.Thr45Met) rs558321010 0.00008
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792 0.00008
NM_007294.4(BRCA1):c.3649T>C (p.Ser1217Pro) rs273900712 0.00008
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.884A>G (p.Asp295Gly) rs772684048 0.00008
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys) rs1030716081 0.00008
NM_014336.5(AIPL1):c.377T>A (p.Met126Lys) rs761622978 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_015311.3(OBSL1):c.3445G>A (p.Gly1149Arg) rs200771559 0.00008
NM_017534.6(MYH2):c.5263C>T (p.Arg1755Cys) rs202006788 0.00008
NM_017755.6(NSUN2):c.2137G>A (p.Glu713Lys) rs200232369 0.00008
NM_020366.4(RPGRIP1):c.2510C>G (p.Ala837Gly) rs373515194 0.00008
NM_024312.5(GNPTAB):c.1960A>G (p.Ser654Gly) rs151209875 0.00008
NM_024675.4(PALB2):c.1042C>A (p.Gln348Lys) rs375699023 0.00008
NM_024675.4(PALB2):c.2128A>G (p.Thr710Ala) rs730881887 0.00008
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846 0.00008
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys) rs104886270 0.00008
NM_054012.4(ASS1):c.245T>C (p.Leu82Pro) rs559043503 0.00008
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_170707.4(LMNA):c.1488+6T>G rs369642101 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln) rs367620267 0.00008
NM_181507.2(HPS5):c.1379G>T (p.Gly460Val) rs563393844 0.00008
NM_182961.4(SYNE1):c.24635G>A (p.Arg8212His) rs766462111 0.00008
NM_203447.4(DOCK8):c.2740G>A (p.Ala914Thr) rs375665207 0.00008
NR_003051.3(RMRP):n.-22T>C rs947939533 0.00008
NM_000038.6(APC):c.1408+3A>G rs534358523 0.00007
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804 0.00007
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys) rs750185173 0.00007
NM_000045.4(ARG1):c.665+4G>A rs371976737 0.00007
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu) rs371526361 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000053.4(ATP7B):c.1947-4C>T rs74904335 0.00007
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302 0.00007
NM_000090.4(COL3A1):c.472T>A (p.Tyr158Asn) rs756125442 0.00007
NM_000092.5(COL4A4):c.3532G>A (p.Gly1178Ser) rs780504632 0.00007
NM_000104.4(CYP1B1):c.701C>T (p.Thr234Met) rs375391843 0.00007
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000133.4(F9):c.1346G>A (p.Arg449Gln) rs143018900 0.00007
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys) rs140992397 0.00007
NM_000147.5(FUCA1):c.1A>G (p.Met1Val) rs558338123 0.00007
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000170.3(GLDC):c.661G>A (p.Val221Ile) rs144043066 0.00007
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143 0.00007
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn) rs147445322 0.00007
NM_000243.3(MEFV):c.416C>A (p.Ala139Asp) rs575678784 0.00007
NM_000249.4(MLH1):c.*4T>C rs750794400 0.00007
NM_000249.4(MLH1):c.117-10G>A rs576724240 0.00007
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly) rs63750809 0.00007
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu) rs148317871 0.00007
NM_000251.3(MSH2):c.1087G>T (p.Val363Leu) rs377345366 0.00007
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg) rs202147520 0.00007
NM_000302.4(PLOD1):c.1115A>G (p.Asp372Gly) rs377497101 0.00007
NM_000344.4(SMN1):c.865T>A (p.Cys289Ser) rs187925143 0.00007
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_000388.4(CASR):c.848T>C (p.Ile283Thr) rs142745096 0.00007
NM_000397.4(CYBB):c.1496A>C (p.Lys499Thr) rs201356986 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_000466.3(PEX1):c.1369A>G (p.Ile457Val) rs561561515 0.00007
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00007
NM_000492.4(CFTR):c.1054C>T (p.Arg352Trp) rs193922497 0.00007
NM_000492.4(CFTR):c.948T>G (p.Phe316Leu) rs78742051 0.00007
NM_000518.4(HBB):c.34G>A (p.Val12Ile) rs33974228 0.00007
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) rs147502219 0.00007
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314 0.00007
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000552.5(VWF):c.6890C>T (p.Pro2297Leu) rs201372397 0.00007
NM_001035.3(RYR2):c.51T>C (p.Asp17=) rs373674802 0.00007
NM_001042492.3(NF1):c.1528-10T>C rs376174484 0.00007
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile) rs376655102 0.00007
NM_001048174.2(MUTYH):c.262C>T (p.Arg88Trp) rs373766973 0.00007
NM_001164508.2(NEB):c.17023C>T (p.Arg5675Cys) rs547231033 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555 0.00007
NM_001267550.2(TTN):c.103828C>T (p.Arg34610Cys) rs376443365 0.00007
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu) rs369947439 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.32035G>A (p.Val10679Ile) rs369932282 0.00007
NM_001267550.2(TTN):c.35185G>A (p.Glu11729Lys) rs762444896 0.00007
NM_001267550.2(TTN):c.53444T>C (p.Ile17815Thr) rs374563054 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.72475A>G (p.Ile24159Val) rs371764714 0.00007
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met) rs199532781 0.00007
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp) rs45466197 0.00007
NM_001278116.2(L1CAM):c.1124-6_1124-3dup rs782713149 0.00007
NM_001365999.1(SZT2):c.9287-8T>C rs183871754 0.00007
NM_001378454.1(ALMS1):c.11748G>A (p.Glu3916=) rs373364340 0.00007
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn) rs34029285 0.00007
NM_001379451.1(BCORL1):c.4079_4081del (p.Asp1360_Leu1361delinsVal) rs781578120 0.00007
NM_001379500.1(COL18A1):c.651+17C>T rs578202936 0.00007
NM_001384474.1(LOXHD1):c.2599-12C>T rs892676326 0.00007
NM_001414.4(EIF2B1):c.824A>G (p.Tyr275Cys) rs758746181 0.00007
NM_001846.4(COL4A2):c.4534T>C (p.Trp1512Arg) rs200314049 0.00007
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) rs397516747 0.00007
NM_002299.4(LCT):c.2761G>T (p.Ala921Ser) rs149891578 0.00007
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp) rs372736126 0.00007
NM_002485.5(NBN):c.1382C>T (p.Pro461Leu) rs367760321 0.00007
NM_002485.5(NBN):c.1979G>C (p.Arg660Thr) rs201781110 0.00007
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_003001.5(SDHC):c.98C>T (p.Thr33Met) rs148566767 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_004360.5(CDH1):c.1289T>G (p.Val430Gly) rs730881665 0.00007
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln) rs144106775 0.00007
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg) rs139673146 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_004646.4(NPHS1):c.1049C>T (p.Ser350Phe) rs570069789 0.00007
NM_004655.4(AXIN2):c.2182G>A (p.Ala728Thr) rs141260153 0.00007
NM_004990.4(MARS1):c.734A>G (p.Glu245Gly) rs778753999 0.00007
NM_005546.4(ITK):c.768+3A>G rs374214545 0.00007
NM_005591.4(MRE11):c.482A>G (p.Lys161Arg) rs587782294 0.00007
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026 0.00007
NM_006031.6(PCNT):c.418C>T (p.Pro140Ser) rs774241611 0.00007
NM_006231.4(POLE):c.3311C>T (p.Thr1104Met) rs531705054 0.00007
NM_006567.5(FARS2):c.973G>A (p.Asp325Asn) rs764427452 0.00007
NM_006904.7(PRKDC):c.593G>A (p.Arg198His) rs368974848 0.00007
NM_006939.4(SOS2):c.2707G>A (p.Val903Met) rs745788940 0.00007
NM_006939.4(SOS2):c.2758A>G (p.Ile920Val) rs755783805 0.00007
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile) rs141078955 0.00007
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val) rs375130261 0.00007
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748 0.00007
NM_007294.4(BRCA1):c.5467+8G>A rs80358062 0.00007
NM_007294.4(BRCA1):c.692C>T (p.Thr231Met) rs80357001 0.00007
NM_013246.3(CLCF1):c.89G>A (p.Arg30His) rs772890565 0.00007
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys) rs763151358 0.00007
NM_022124.6(CDH23):c.3142C>T (p.Arg1048Cys) rs181843079 0.00007
NM_022124.6(CDH23):c.4520G>A (p.Arg1507Gln) rs373480195 0.00007
NM_022124.6(CDH23):c.8057T>C (p.Val2686Ala) rs371567666 0.00007
NM_022437.3(ABCG8):c.586C>T (p.Arg196Trp) rs200433692 0.00007
NM_024334.3(TMEM43):c.-4C>T rs760598925 0.00007
NM_024675.4(PALB2):c.2200A>T (p.Thr734Ser) rs45543843 0.00007
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro) rs529316227 0.00007
NM_032119.4(ADGRV1):c.3974C>T (p.Thr1325Met) rs756414393 0.00007
NM_138694.4(PKHD1):c.11869C>T (p.Arg3957Cys) rs146680689 0.00007
NM_139076.3(ABRAXAS1):c.178+9T>C rs367733190 0.00007
NM_144988.4(ALG14):c.136+1G>C rs150550220 0.00007
NM_147127.5(EVC2):c.2739G>C (p.Lys913Asn) rs180747811 0.00007
NM_175914.5(HNF4A):c.569C>T (p.Pro190Leu) rs201749293 0.00007
NM_176787.5(PIGN):c.776T>C (p.Phe259Ser) rs370310838 0.00007
NM_206933.4(USH2A):c.3045C>G (p.His1015Gln) rs541918040 0.00007
NM_206933.4(USH2A):c.7061G>A (p.Arg2354His) rs201386640 0.00007
NM_206933.4(USH2A):c.9922G>A (p.Gly3308Ser) rs752811693 0.00007
NR_003051.3(RMRP):n.271T>C rs377349293 0.00007
NM_000016.6(ACADM):c.1247T>C (p.Ile416Thr) rs760892123 0.00006
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737 0.00006
NM_000030.3(AGXT):c.704C>T (p.Thr235Met) rs763751076 0.00006
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His) rs369586696 0.00006
NM_000038.6(APC):c.1193A>G (p.Lys398Arg) rs145912662 0.00006
NM_000038.6(APC):c.2461G>A (p.Val821Ile) rs138498551 0.00006
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu) rs200166878 0.00006
NM_000038.6(APC):c.5216A>G (p.Lys1739Arg) rs769558291 0.00006
NM_000038.6(APC):c.5774C>A (p.Pro1925His) rs762682111 0.00006
NM_000038.6(APC):c.7468G>A (p.Asp2490Asn) rs538230198 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.115A>G (p.Thr39Ala) rs779297339 0.00006
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 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_000053.4(ATP7B):c.352G>A (p.Asp118Asn) rs769655497 0.00006
NM_000053.4(ATP7B):c.3671G>T (p.Arg1224Leu) rs532177115 0.00006
NM_000054.7(AVPR2):c.1031G>A (p.Arg344Gln) rs368996823 0.00006
NM_000055.4(BCHE):c.1627C>T (p.Arg543Cys) rs199660374 0.00006
NM_000057.4(BLM):c.542G>T (p.Ser181Ile) rs587779893 0.00006
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00006
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val) rs587779357 0.00006
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421 0.00006
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_000059.4(BRCA2):c.8125A>G (p.Ser2709Gly) rs398122596 0.00006
NM_000069.3(CACNA1S):c.3256C>T (p.Arg1086Cys) rs80338782 0.00006
NM_000070.3(CAPN3):c.1585G>A (p.Ala529Thr) rs138857720 0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg) rs201098477 0.00006
NM_000071.3(CBS):c.737-10C>T rs546751042 0.00006
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr) rs199907548 0.00006
NM_000081.4(LYST):c.6149G>A (p.Arg2050Gln) rs376311093 0.00006
NM_000081.4(LYST):c.7862T>C (p.Met2621Thr) rs368500877 0.00006
NM_000090.4(COL3A1):c.1156C>T (p.Pro386Ser) rs757192342 0.00006
NM_000091.5(COL4A3):c.16G>T (p.Ala6Ser) rs770024296 0.00006
NM_000110.4(DPYD):c.1774C>T (p.Arg592Trp) rs59086055 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000129.4(F13A1):c.799-13C>T rs188094485 0.00006
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu) rs201494304 0.00006
NM_000136.3(FANCC):c.767A>G (p.His256Arg) rs730881716 0.00006
NM_000136.3(FANCC):c.843+5G>A rs369082921 0.00006
NM_000138.5(FBN1):c.124G>C (p.Ala42Pro) rs377722423 0.00006
NM_000138.5(FBN1):c.1961-14T>C rs373918202 0.00006
NM_000138.5(FBN1):c.2921G>A (p.Arg974His) rs763094223 0.00006
NM_000138.5(FBN1):c.3197G>C (p.Arg1066Thr) rs376659156 0.00006
NM_000138.5(FBN1):c.7204+7C>G rs371763964 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000138.5(FBN1):c.7999G>A (p.Glu2667Lys) rs149062442 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8300A>G (p.Asn2767Ser) rs536503540 0.00006
NM_000152.5(GAA):c.1195-15G>A rs373840229 0.00006
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu) rs147327209 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000153.4(GALC):c.206G>A (p.Arg69Gln) rs371523347 0.00006
NM_000158.4(GBE1):c.785G>A (p.Arg262His) rs369574719 0.00006
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr) rs150990541 0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp) rs773763465 0.00006
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp) rs374486449 0.00006
NM_000190.4(HMBS):c.745G>A (p.Ala249Thr) rs763844879 0.00006
NM_000195.5(HPS1):c.1096C>A (p.Pro366Thr) rs138771756 0.00006
NM_000195.5(HPS1):c.695C>T (p.Ala232Val) rs764420988 0.00006
NM_000215.4(JAK3):c.2350+6C>T rs200193137 0.00006
NM_000228.3(LAMB3):c.1721G>A (p.Arg574His) rs370280436 0.00006
NM_000231.3(SGCG):c.385G>A (p.Gly129Ser) rs747046381 0.00006
NM_000237.3(LPL):c.1123A>G (p.Asn375Asp) rs780133524 0.00006
NM_000243.3(MEFV):c.1759+7C>T rs772667365 0.00006
NM_000243.3(MEFV):c.866C>T (p.Ala289Val) rs104895132 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000249.4(MLH1):c.242C>T (p.Thr81Ile) rs63751069 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 0.00006
NM_000251.3(MSH2):c.1077-7A>G rs370807334 0.00006
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro) rs587779086 0.00006
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296 0.00006
NM_000251.3(MSH2):c.2634+7C>G rs905179122 0.00006
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys) rs368770848 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000260.4(MYO7A):c.6272A>G (p.Lys2091Arg) rs781713344 0.00006
NM_000275.3(OCA2):c.2080G>A (p.Ala694Thr) rs745803719 0.00006
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr) rs199644680 0.00006
NM_000291.4(PGK1):c.375T>A (p.His125Gln) rs142134146 0.00006
NM_000334.4(SCN4A):c.367G>A (p.Gly123Arg) rs377572814 0.00006
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001 0.00006
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427 0.00006
NM_000352.6(ABCC8):c.1924-13A>G rs369865762 0.00006
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp) rs142620721 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_000369.5(TSHR):c.1574T>C (p.Phe525Ser) rs200138601 0.00006
NM_000388.4(CASR):c.3055G>A (p.Gly1019Arg) rs1060502848 0.00006
NM_000393.5(COL5A2):c.3308C>T (p.Pro1103Leu) rs150401168 0.00006
NM_000400.4(ERCC2):c.2015C>T (p.Thr672Met) rs200438494 0.00006
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) rs370843758 0.00006
NM_000435.3(NOTCH3):c.5467G>A (p.Asp1823Asn) rs763602970 0.00006
NM_000441.2(SLC26A4):c.-4+5G>A rs727503425 0.00006
NM_000447.3(PSEN2):c.53C>T (p.Thr18Met) rs143061887 0.00006
NM_000455.5(STK11):c.1027G>A (p.Asp343Asn) rs368547224 0.00006
NM_000455.5(STK11):c.1069G>A (p.Glu357Lys) rs759473833 0.00006
NM_000465.4(BARD1):c.119C>T (p.Ala40Val) rs71579841 0.00006
NM_000465.4(BARD1):c.1240A>T (p.Met414Leu) rs759601398 0.00006
NM_000465.4(BARD1):c.1585C>T (p.Arg529Trp) rs375515606 0.00006
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn) rs376256852 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_000492.4(CFTR):c.1934T>A (p.Met645Lys) rs377731410 0.00006
NM_000492.4(CFTR):c.2145A>C (p.Gln715His) rs141235765 0.00006
NM_000492.4(CFTR):c.2597G>A (p.Cys866Tyr) rs193922506 0.00006
NM_000492.4(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123 0.00006
NM_000492.4(CFTR):c.4123C>A (p.His1375Asn) rs146947665 0.00006
NM_000492.4(CFTR):c.41A>T (p.Lys14Ile) rs772774651 0.00006
NM_000492.4(CFTR):c.451C>A (p.Gln151Lys) rs397508720 0.00006
NM_000492.4(CFTR):c.715G>A (p.Gly239Arg) rs397508788 0.00006
NM_000492.4(CFTR):c.842T>C (p.Met281Thr) rs397508802 0.00006
NM_000492.4(CFTR):c.861C>G (p.Asn287Lys) rs112162204 0.00006
NM_000492.4(CFTR):c.974A>G (p.Tyr325Cys) rs373998255 0.00006
NM_000493.4(COL10A1):c.737T>C (p.Ile246Thr) rs764388204 0.00006
NM_000518.5(HBB):c.*132C>A rs1420779550 0.00006
NM_000518.5(HBB):c.*73T>C rs1265505530 0.00006
NM_000518.5(HBB):c.316-189A>G rs1034207896 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 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.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768 0.00006
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330 0.00006
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met) rs372341850 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000540.3(RYR1):c.14203C>T (p.Arg4735Trp) rs766887342 0.00006
NM_000540.3(RYR1):c.2956C>T (p.Arg986Cys) rs150993059 0.00006
NM_000540.3(RYR1):c.3619G>A (p.Val1207Met) rs760235443 0.00006
NM_000540.3(RYR1):c.6302T>A (p.Met2101Lys) rs746818096 0.00006
NM_000545.8(HNF1A):c.245C>T (p.Thr82Met) rs568123980 0.00006
NM_000552.5(VWF):c.1324C>T (p.Arg442Cys) rs148247755 0.00006
NM_000552.5(VWF):c.4747C>T (p.Arg1583Trp) rs61750116 0.00006
NM_000552.5(VWF):c.7135C>T (p.Arg2379Cys) rs61751283 0.00006
NM_000942.5(PPIB):c.224A>G (p.Asn75Ser) rs202087362 0.00006
NM_001003841.3(SLC6A19):c.1117G>A (p.Ala373Thr) rs775834401 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001018115.3(FANCD2):c.3290G>A (p.Arg1097Gln) rs755748094 0.00006
NM_001035.3(RYR2):c.10494+13T>G rs796484463 0.00006
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr) rs773441342 0.00006
NM_001035.3(RYR2):c.4596+4C>T rs397516532 0.00006
NM_001035.3(RYR2):c.8437-3T>C rs924080705 0.00006
NM_001042492.3(NF1):c.3686A>G (p.Asn1229Ser) rs140523180 0.00006
NM_001042492.3(NF1):c.5961G>A (p.Gln1987=) rs757536610 0.00006
NM_001044385.3(TMEM237):c.1160-1G>A rs747465681 0.00006
NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr) rs587782263 0.00006
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) rs369677603 0.00006
NM_001079802.2(FKTN):c.781-9T>C rs370564232 0.00006
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 0.00006
NM_001079872.2(CUL4B):c.*7G>A rs769730471 0.00006
NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile) rs746522359 0.00006
NM_001081.4(CUBN):c.7400A>G (p.Asn2467Ser) rs200197243 0.00006
NM_001110219.3(GJB6):c.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00006
NM_001127222.2(CACNA1A):c.6922G>A (p.Gly2308Ser) rs758924907 0.00006
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser) rs375200447 0.00006
NM_001134407.3(GRIN2A):c.3103G>A (p.Asp1035Asn) rs540445580 0.00006
NM_001134793.2(HYLS1):c.712C>T (p.Arg238Cys) rs367894289 0.00006
NM_001143854.2(RPH3A):c.229G>A (p.Gly77Arg) rs375430419 0.00006
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg) rs150808807 0.00006
NM_001164508.2(NEB):c.11717G>A (p.Arg3906His) rs556930902 0.00006
NM_001164508.2(NEB):c.7441A>G (p.Arg2481Gly) rs149430473 0.00006
NM_001164508.2(NEB):c.78+6G>A rs376085885 0.00006
NM_001164508.2(NEB):c.7931G>A (p.Arg2644Gln) rs557950249 0.00006
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr) rs140947675 0.00006
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro) rs140102105 0.00006
NM_001193315.2(VIPAS39):c.1363C>T (p.Arg455Trp) rs149168488 0.00006
NM_001199397.3(NEK1):c.3437G>A (p.Arg1146Lys) rs751475605 0.00006
NM_001242896.3(DEPDC5):c.5G>A (p.Arg2Lys) rs756142773 0.00006
NM_001243133.2(NLRP3):c.1361G>A (p.Gly454Glu) rs199696688 0.00006
NM_001257096.2(PAX1):c.*204G>A rs748872583 0.00006
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr) rs764179161 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.17821A>G (p.Ile5941Val) rs397517487 0.00006
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu) rs760007747 0.00006
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys) rs754885396 0.00006
NM_001267550.2(TTN):c.24785-16A>G rs201107387 0.00006
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser) rs369385294 0.00006
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile) rs375735354 0.00006
NM_001267550.2(TTN):c.39547+19T>C rs559113689 0.00006
NM_001267550.2(TTN):c.43970G>C (p.Cys14657Ser) rs774245300 0.00006
NM_001267550.2(TTN):c.4462A>G (p.Thr1488Ala) rs146732280 0.00006
NM_001267550.2(TTN):c.44978G>A (p.Gly14993Glu) rs200931793 0.00006
NM_001267550.2(TTN):c.49367G>A (p.Arg16456His) rs768914789 0.00006
NM_001267550.2(TTN):c.51704G>A (p.Arg17235Gln) rs573695008 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.55661G>A (p.Arg18554Gln) rs202126861 0.00006
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val) rs138367112 0.00006
NM_001267550.2(TTN):c.58732+6C>T rs778350235 0.00006
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys) rs761241302 0.00006
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile) rs183056142 0.00006
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile) rs200878877 0.00006
NM_001267550.2(TTN):c.74504A>G (p.Tyr24835Cys) rs201724962 0.00006
NM_001267550.2(TTN):c.75458C>T (p.Ser25153Leu) rs368058280 0.00006
NM_001267550.2(TTN):c.80733T>G (p.Ile26911Met) rs371965190 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.85316G>A (p.Arg28439Gln) rs764437671 0.00006
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn) rs757300589 0.00006
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) rs200621611 0.00006
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser) rs139992576 0.00006
NM_001278716.2(FBXL4):c.1622C>T (p.Thr541Ile) rs1391578014 0.00006
NM_001360.3(DHCR7):c.1354G>A (p.Ala452Thr) rs140400648 0.00006
NM_001360.3(DHCR7):c.1406G>A (p.Arg469His) rs201150384 0.00006
NM_001365276.2(TNXB):c.85C>T (p.Arg29Trp) rs368512272 0.00006
NM_001365951.3(KIF1B):c.4019C>A (p.Ser1340Tyr) rs202229713 0.00006
NM_001367624.2(ZNF469):c.992C>T (p.Ala331Val) rs149485731 0.00006
NM_001369268.1(ACAN):c.551C>T (p.Thr184Met) rs771509541 0.00006
NM_001377.3(DYNC2H1):c.1289G>A (p.Arg430His) rs770380730 0.00006
NM_001377304.1(GFI1B):c.550C>T (p.Arg184Cys) rs771408008 0.00006
NM_001378452.1(ITPR1):c.7630G>A (p.Val2544Ile) rs371726673 0.00006
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.12103G>A (p.Ala4035Thr) rs757364858 0.00006
NM_001378454.1(ALMS1):c.1237+9C>G rs201471551 0.00006
NM_001378454.1(ALMS1):c.1548C>G (p.Asp516Glu) rs202002052 0.00006
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe) rs538743256 0.00006
NM_001378454.1(ALMS1):c.3038A>G (p.Tyr1013Cys) rs371893544 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378778.1(MPDZ):c.2776G>A (p.Ala926Thr) rs144992780 0.00006
NM_001384140.1(PCDH15):c.594G>A (p.Pro198=) rs368308772 0.00006
NM_001386795.1(DTNA):c.1915A>G (p.Asn639Asp) rs779045040 0.00006
NM_001457.4(FLNB):c.1688T>C (p.Ile563Thr) rs145891515 0.00006
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn) rs777061037 0.00006
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys) rs374973240 0.00006
NM_001606.5(ABCA2):c.746G>A (p.Arg249Gln) rs752675380 0.00006
NM_001677.4(ATP1B1):c.781G>A (p.Val261Ile) rs772382642 0.00006
NM_001846.4(COL4A2):c.1465G>A (p.Asp489Asn) rs777186602 0.00006
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr) rs537170841 0.00006
NM_001876.4(CPT1A):c.1496C>T (p.Ala499Val) rs753866589 0.00006
NM_001918.5(DBT):c.1281+5A>G rs199571242 0.00006
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe) rs199926617 0.00006
NM_002025.4(AFF2):c.896C>T (p.Pro299Leu) rs368459122 0.00006
NM_002225.5(IVD):c.490A>G (p.Met164Val) rs574434706 0.00006
NM_002427.4(MMP13):c.1117C>A (p.Leu373Met) rs112373498 0.00006
NM_002471.4(MYH6):c.2600A>G (p.Lys867Arg) rs143284278 0.00006
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys) rs397516762 0.00006
NM_002474.3(MYH11):c.3858+13C>T rs375738696 0.00006
NM_002485.5(NBN):c.1729G>T (p.Asp577Tyr) rs587781881 0.00006
NM_002637.4(PHKA1):c.2339C>T (p.Ala780Val) rs782403774 0.00006
NM_002691.4(POLD1):c.301A>T (p.Ile101Phe) rs140858857 0.00006
NM_002769.5(PRSS1):c.541A>G (p.Ser181Gly) rs376907511 0.00006
NM_002834.5(PTPN11):c.853+17C>T rs746692191 0.00006
NM_002878.4(RAD51D):c.629C>T (p.Ala210Val) rs376855484 0.00006
NM_002972.4(SBF1):c.956A>G (p.His319Arg) rs372068556 0.00006
NM_003701.4(TNFSF11):c.544G>A (p.Val182Met) rs139991365 0.00006
NM_003722.5(TP63):c.2021G>A (p.Arg674His) rs34713855 0.00006
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg) rs752974260 0.00006
NM_003793.4(CTSF):c.734G>A (p.Arg245His) rs767931300 0.00006
NM_004004.6(GJB2):c.23C>T (p.Thr8Met) rs529500747 0.00006
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter) rs1477369230 0.00006
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly) rs771051897 0.00006
NM_004333.6(BRAF):c.505-12A>G rs377433501 0.00006
NM_004333.6(BRAF):c.52C>G (p.Leu18Val) rs1222192591 0.00006
NM_004341.5(CAD):c.5158G>A (p.Glu1720Lys) rs749076924 0.00006
NM_004360.5(CDH1):c.1241C>A (p.Thr414Asn) rs755571454 0.00006
NM_004360.5(CDH1):c.2343A>T (p.Glu781Asp) rs587780119 0.00006
NM_004360.5(CDH1):c.846G>A (p.Met282Ile) rs200932258 0.00006
NM_004366.6(CLCN2):c.2156C>T (p.Ser719Leu) rs138573287 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 0.00006
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys) rs138053929 0.00006
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys) rs773113261 0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004453.4(ETFDH):c.1019T>A (p.Phe340Tyr) rs1131691336 0.00006
NM_004655.4(AXIN2):c.1201-7C>T rs760667639 0.00006
NM_004667.6(HERC2):c.4091G>A (p.Cys1364Tyr) rs923003032 0.00006
NM_004947.5(DOCK3):c.4825C>T (p.Arg1609Trp) rs372827222 0.00006
NM_005188.4(CBL):c.1423G>A (p.Gly475Ser) rs764599897 0.00006
NM_005562.3(LAMC2):c.3014A>G (p.Gln1005Arg) rs781587803 0.00006
NM_005591.4(MRE11):c.358A>G (p.Ile120Val) rs372131911 0.00006
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn) rs368403414 0.00006
NM_005629.4(SLC6A8):c.1025T>C (p.Ile342Thr) rs781962672 0.00006
NM_005677.4(COLQ):c.1019G>A (p.Arg340His) rs375225755 0.00006
NM_006182.4(DDR2):c.187C>G (p.Leu63Val) rs144594252 0.00006
NM_006231.4(POLE):c.3459+8C>T rs375852759 0.00006
NM_006231.4(POLE):c.6262C>T (p.Pro2088Ser) rs749342382 0.00006
NM_006258.4(PRKG1):c.1928G>A (p.Arg643Lys) rs770812712 0.00006
NM_006270.5(RRAS):c.409G>A (p.Val137Ile) rs757080959 0.00006
NM_006502.3(POLH):c.2074A>G (p.Thr692Ala) rs199562456 0.00006
NM_006502.3(POLH):c.332G>A (p.Arg111His) rs758423288 0.00006
NM_006506.5(RASA2):c.-15G>C rs767937276 0.00006
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser) rs368649599 0.00006
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.372C>T (p.Val124=) rs371891909 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.1582G>A (p.Glu528Lys) rs138040612 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_007294.4(BRCA1):c.135-3T>C rs759417413 0.00006
NM_007294.4(BRCA1):c.1747A>G (p.Lys583Glu) rs80356928 0.00006
NM_007294.4(BRCA1):c.1802A>G (p.His601Arg) rs371631805 0.00006
NM_007294.4(BRCA1):c.3346G>C (p.Val1116Leu) rs55909400 0.00006
NM_012123.4(MTO1):c.1996C>T (p.Arg666Ter) rs200217371 0.00006
NM_013339.4(ALG6):c.338G>A (p.Arg113His) rs768372697 0.00006
NM_014384.3(ACAD8):c.400G>T (p.Asp134Tyr) rs367857040 0.00006
NM_014780.5(CUL7):c.4625G>A (p.Arg1542Gln) rs189054608 0.00006
NM_014795.4(ZEB2):c.2275A>G (p.Arg759Gly) rs748354087 0.00006
NM_015311.3(OBSL1):c.1388G>A (p.Arg463His) rs767476866 0.00006
NM_015443.4(KANSL1):c.1277G>A (p.Arg426His) rs764291274 0.00006
NM_015627.3(LDLRAP1):c.747+13G>A rs202247605 0.00006
NM_015910.7(WDPCP):c.1163G>A (p.Ser388Asn) rs780625068 0.00006
NM_016955.4(SEPSECS):c.388+3A>G rs757504141 0.00006
NM_017534.6(MYH2):c.5041G>A (p.Glu1681Lys) rs144934663 0.00006
NM_017882.3(CLN6):c.278C>T (p.Thr93Met) rs150001589 0.00006
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948 0.00006
NM_018006.5(TRMU):c.82+5G>C rs771076163 0.00006
NM_018112.3(TMEM38B):c.319T>C (p.Tyr107His) rs746623351 0.00006
NM_018896.5(CACNA1G):c.3553C>T (p.Arg1185Cys) rs573971701 0.00006
NM_018979.4(WNK1):c.6616G>C (p.Val2206Leu) rs141160595 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_020117.11(LARS1):c.967A>G (p.Ile323Val) rs754428997 0.00006
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val) rs376701259 0.00006
NM_020365.5(EIF2B3):c.22A>T (p.Met8Leu) rs182877101 0.00006
NM_020533.3(MCOLN1):c.1120G>A (p.Gly374Ser) rs749914804 0.00006
NM_020921.4(NIN):c.5126A>G (p.Asn1709Ser) rs387907308 0.00006
NM_021098.3(CACNA1H):c.4567-4A>G rs1055632728 0.00006
NM_022124.6(CDH23):c.419G>A (p.Arg140His) rs201361229 0.00006
NM_022124.6(CDH23):c.9904G>A (p.Glu3302Lys) rs368743687 0.00006
NM_024120.5(NDUFAF5):c.519+4A>G rs373951216 0.00006
NM_024312.5(GNPTAB):c.1774G>A (p.Ala592Thr) rs149390820 0.00006
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) rs202205304 0.00006
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser) rs200048921 0.00006
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284 0.00006
NM_024782.3(NHEJ1):c.805G>T (p.Ala269Ser) rs150272598 0.00006
NM_024782.3(NHEJ1):c.806C>T (p.Ala269Val) rs143112457 0.00006
NM_025219.3(DNAJC5):c.419C>T (p.Ala140Val) rs144915847 0.00006
NM_030662.4(MAP2K2):c.451-7C>T rs780396876 0.00006
NM_030662.4(MAP2K2):c.604G>A (p.Val202Met) rs769471250 0.00006
NM_030777.4(SLC2A10):c.599C>G (p.Pro200Arg) rs75218052 0.00006
NM_030787.4(CFHR5):c.242C>T (p.Pro81Leu) rs544857720 0.00006
NM_032043.3(BRIP1):c.1629-3T>C rs587780828 0.00006
NM_032043.3(BRIP1):c.2087C>T (p.Pro696Leu) rs147755155 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.413T>C (p.Leu138Ser) rs587780251 0.00006
NM_032043.3(BRIP1):c.550G>T (p.Asp184Tyr) rs201047375 0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_032520.5(GNPTG):c.74C>A (p.Ala25Glu) rs137853826 0.00006
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr) rs200811483 0.00006
NM_033305.3(VPS13A):c.9119G>A (p.Arg3040Gln) rs148458576 0.00006
NM_053025.4(MYLK):c.1798G>A (p.Val600Ile) rs766027720 0.00006
NM_053025.4(MYLK):c.4268C>T (p.Thr1423Met) rs776975714 0.00006
NM_058216.3(RAD51C):c.134A>G (p.Glu45Gly) rs587781383 0.00006
NM_058216.3(RAD51C):c.14C>T (p.Thr5Met) rs201523760 0.00006
NM_058216.3(RAD51C):c.492T>G (p.Phe164Leu) rs573992101 0.00006
NM_138694.4(PKHD1):c.12106C>T (p.Arg4036Trp) rs201210830 0.00006
NM_138694.4(PKHD1):c.5129C>T (p.Pro1710Leu) rs749294509 0.00006
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu) rs373823890 0.00006
NM_144773.4(PROKR2):c.1058G>A (p.Arg353His) rs576243101 0.00006
NM_144773.4(PROKR2):c.349C>T (p.Arg117Trp) rs142008002 0.00006
NM_144991.3(TSPEAR):c.730C>T (p.Arg244Trp) rs372173836 0.00006
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln) rs201573515 0.00006
NM_152594.3(SPRED1):c.1289G>C (p.Gly430Ala) rs749389617 0.00006
NM_153704.6(TMEM67):c.651+5G>A rs970248353 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153717.3(EVC):c.940-150T>C rs576076928 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_173660.5(DOK7):c.973C>T (p.Arg325Trp) rs376280466 0.00006
NM_174936.4(PCSK9):c.1300C>T (p.Arg434Trp) rs757143429 0.00006
NM_174936.4(PCSK9):c.1384T>C (p.Ser462Pro) rs746115963 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly) rs193922472 0.00006
NM_176824.3(BBS7):c.1603C>A (p.Pro535Thr) rs143700362 0.00006
NM_177924.5(ASAH1):c.968G>A (p.Arg323His) rs144363797 0.00006
NM_182914.3(SYNE2):c.4252G>C (p.Val1418Leu) rs770898049 0.00006
NM_199242.3(UNC13D):c.32G>C (p.Arg11Pro) rs574927621 0.00006
NM_206933.4(USH2A):c.10451G>A (p.Arg3484Gln) rs771999994 0.00006
NM_206933.4(USH2A):c.1143+12C>T rs727505167 0.00006
NM_206933.4(USH2A):c.15496A>G (p.Ile5166Val) rs111033419 0.00006
NM_206933.4(USH2A):c.8431C>A (p.Pro2811Thr) rs111033529 0.00006
NM_206933.4(USH2A):c.9949C>T (p.Arg3317Cys) rs200696560 0.00006
NM_207346.3(TSEN54):c.758G>A (p.Gly253Asp) rs369801130 0.00006
NM_207346.3(TSEN54):c.881G>A (p.Arg294Gln) rs150805182 0.00006
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) rs782376163 0.00005
NM_000033.4(ABCD1):c.854G>A (p.Arg285His) rs782635828 0.00005
NM_000038.6(APC):c.2438A>G (p.Asn813Ser) rs201522866 0.00005
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.3016A>G (p.Met1006Val) rs139893395 0.00005
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser) rs587779853 0.00005
NM_000051.4(ATM):c.9031A>G (p.Met3011Val) rs372795527 0.00005
NM_000059.4(BRCA2):c.1694C>T (p.Ala565Val) rs55821741 0.00005
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720 0.00005
NM_000059.4(BRCA2):c.5503A>G (p.Asn1835Asp) rs80358771 0.00005
NM_000059.4(BRCA2):c.5741G>C (p.Ser1914Thr) rs80358801 0.00005
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn) rs56324666 0.00005
NM_000059.4(BRCA2):c.695A>G (p.Tyr232Cys) rs372188754 0.00005
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714 0.00005
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr) rs56204128 0.00005
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg) rs539765620 0.00005
NM_000117.3(EMD):c.215A>T (p.Asp72Val) rs794729021 0.00005
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys) rs730881723 0.00005
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met) rs149917017 0.00005
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly) rs587779905 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000138.5(FBN1):c.83A>G (p.Asn28Ser) rs193922245 0.00005
NM_000152.5(GAA):c.1075+9T>C rs751918816 0.00005
NM_000152.5(GAA):c.2725G>A (p.Val909Met) rs138407065 0.00005
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln) rs370029131 0.00005
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu) rs201518545 0.00005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met) rs267608089 0.00005
NM_000182.5(HADHA):c.764A>G (p.Lys255Arg) rs754673524 0.00005
NM_000195.5(HPS1):c.2057A>G (p.Gln686Arg) rs372189642 0.00005
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930 0.00005
NM_000219.6(KCNE1):c.95G>A (p.Arg32His) rs17857111 0.00005
NM_000238.4(KCNH2):c.2750C>T (p.Pro917Leu) rs76420733 0.00005
NM_000243.3(MEFV):c.1406T>C (p.Val469Ala) rs778686119 0.00005
NM_000243.3(MEFV):c.460T>C (p.Ser154Pro) rs756975501 0.00005
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys) rs63750760 0.00005
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430 0.00005
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys) rs35045067 0.00005
NM_000251.3(MSH2):c.1774A>G (p.Met592Val) rs371614039 0.00005
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser) rs372383829 0.00005
NM_000251.3(MSH2):c.2694A>C (p.Glu898Asp) rs890670494 0.00005
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875 0.00005
NM_000257.4(MYH7):c.5559+4C>T rs727504319 0.00005
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp) rs747529593 0.00005
NM_000287.4(PEX6):c.2891dup (p.Gln965fs) rs753862792 0.00005
NM_000303.3(PMM2):c.91T>C (p.Phe31Leu) rs749720760 0.00005
NM_000314.8(PTEN):c.-837C>T rs786204940 0.00005
NM_000329.3(RPE65):c.254G>A (p.Arg85His) rs61752870 0.00005
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn) rs199473195 0.00005
NM_000335.5(SCN5A):c.3664-7T>A rs373156650 0.00005
NM_000350.3(ABCA4):c.1749G>C (p.Lys583Asn) rs145265791 0.00005
NM_000368.5(TSC1):c.857C>G (p.Pro286Arg) rs375144225 0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser) rs200341138 0.00005
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) rs199567559 0.00005
NM_000441.2(SLC26A4):c.2153T>C (p.Phe718Ser) rs750834241 0.00005
NM_000451.4(SHOX):c.-65C>A rs922062046 0.00005
NM_000455.5(STK11):c.1254C>G (p.Cys418Trp) rs587780715 0.00005
NM_000465.4(BARD1):c.2161G>A (p.Ala721Thr) rs554708247 0.00005
NM_000465.4(BARD1):c.499C>T (p.Pro167Ser) rs767584985 0.00005
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser) rs200059956 0.00005
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.1691A>G (p.Lys564Arg) rs375325315 0.00005
NM_000492.4(CFTR):c.2042A>T (p.Glu681Val) rs201295415 0.00005
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr) rs201444561 0.00005
NM_000492.4(CFTR):c.2450G>T (p.Gly817Val) rs148604667 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_000497.4(CYP11B1):c.457G>A (p.Ala153Thr) rs200151403 0.00005
NM_000518.5(HBB):c.316-30A>C rs193922558 0.00005
NM_000527.5(LDLR):c.1988-19T>C rs369606726 0.00005
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile) rs370612538 0.00005
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015 0.00005
NM_000540.3(RYR1):c.11269A>G (p.Met3757Val) rs189249768 0.00005
NM_000548.5(TSC2):c.1820C>T (p.Ala607Val) rs397515296 0.00005
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg) rs186867242 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_001005242.3(PKP2):c.1379-2072C>T rs758950276 0.00005
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp) rs767935208 0.00005
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195 0.00005
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val) rs62640587 0.00005
NM_001036.6(RYR3):c.6452C>T (p.Ala2151Val) rs748718316 0.00005
NM_001042492.3(NF1):c.1894T>A (p.Cys632Ser) rs370789267 0.00005
NM_001042492.3(NF1):c.4207G>A (p.Gly1403Ser) rs138227618 0.00005
NM_001127222.2(CACNA1A):c.6770C>T (p.Ala2257Val) rs755099305 0.00005
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp) rs375698433 0.00005
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys) rs779241085 0.00005
NM_001142800.2(EYS):c.586A>C (p.Lys196Gln) rs749038401 0.00005
NM_001142800.2(EYS):c.904C>T (p.Leu302Phe) rs202064483 0.00005
NM_001164508.2(NEB):c.2819A>G (p.Tyr940Cys) rs369875205 0.00005
NM_001174089.2(SLC4A11):c.430G>A (p.Ala144Thr) rs752287261 0.00005
NM_001243279.3(ACSF3):c.1670C>T (p.Pro557Leu) rs780364085 0.00005
NM_001243279.3(ACSF3):c.828G>T (p.Trp276Cys) rs570233664 0.00005
NM_001244710.2(GFPT1):c.1324+3G>A rs367865496 0.00005
NM_001267550.2(TTN):c.101213G>A (p.Arg33738His) rs192391568 0.00005
NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys) rs765274398 0.00005
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His) rs756575734 0.00005
NM_001267550.2(TTN):c.16550C>T (p.Ser5517Leu) rs769165258 0.00005
NM_001267550.2(TTN):c.18778A>C (p.Lys6260Gln) rs375652574 0.00005
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser) rs751157908 0.00005
NM_001267550.2(TTN):c.33328C>T (p.Pro11110Ser) rs565328082 0.00005
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp) rs752970602 0.00005
NM_001267550.2(TTN):c.51185G>A (p.Ser17062Asn) rs876658064 0.00005
NM_001267550.2(TTN):c.54167G>A (p.Arg18056Gln) rs376932266 0.00005
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp) rs764950995 0.00005
NM_001267550.2(TTN):c.57593A>G (p.Asn19198Ser) rs199787097 0.00005
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.64903C>T (p.Arg21635Cys) rs201614524 0.00005
NM_001267550.2(TTN):c.899C>A (p.Thr300Asn) rs376737897 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser) rs750213547 0.00005
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg) rs147903846 0.00005
NM_001271938.2(MEGF8):c.4858G>A (p.Val1620Ile) rs748419823 0.00005
NM_001271938.2(MEGF8):c.7468C>T (p.Arg2490Cys) rs368024107 0.00005
NM_001278716.2(FBXL4):c.1135C>T (p.Arg379Cys) rs778692687 0.00005
NM_001360.3(DHCR7):c.1099C>T (p.Arg367Cys) rs531038145 0.00005
NM_001367624.2(ZNF469):c.6880G>A (p.Gly2294Arg) rs773187176 0.00005
NM_001367624.2(ZNF469):c.9050G>A (p.Ser3017Asn) rs1383712865 0.00005
NM_001370100.5(ZMYND11):c.1456C>T (p.His486Tyr) rs964671911 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_001371986.1(UNC80):c.9224C>T (p.Pro3075Leu) rs544636492 0.00005
NM_001374385.1(ATP8B1):c.1681G>A (p.Ala561Thr) rs372806297 0.00005
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.5447A>G (p.Tyr1816Cys) rs780110659 0.00005
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582 0.00005
NM_001378454.1(ALMS1):c.9733G>A (p.Ala3245Thr) rs200432874 0.00005
NM_001386393.1(PANK2):c.803A>G (p.Asp268Gly) rs562740927 0.00005
NM_001655.5(ARCN1):c.1301G>A (p.Arg434Gln) rs146311433 0.00005
NM_001852.4(COL9A2):c.682C>T (p.Pro228Ser) rs370064150 0.00005
NM_002160.4(TNC):c.3413C>T (p.Thr1138Met) rs371671996 0.00005
NM_002185.5(IL7R):c.617G>A (p.Arg206Gln) rs193922644 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002334.4(LRP4):c.5653C>T (p.Arg1885Ter) rs147138337 0.00005
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His) rs544358806 0.00005
NM_002485.5(NBN):c.52C>A (p.Leu18Ile) rs587781939 0.00005
NM_002485.5(NBN):c.664T>C (p.Phe222Leu) rs541992192 0.00005
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590 0.00005
NM_002691.4(POLD1):c.2972G>A (p.Cys991Tyr) rs775264944 0.00005
NM_002778.4(PSAP):c.797C>T (p.Ala266Val) rs772161921 0.00005
NM_003242.6(TGFBR2):c.689C>T (p.Thr230Met) rs150116445 0.00005
NM_003322.6(TULP1):c.539G>A (p.Arg180His) rs146004382 0.00005
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004006.3(DMD):c.10442A>G (p.Gln3481Arg) rs368594777 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004082.5(DCTN1):c.3215C>G (p.Ala1072Gly) rs780875333 0.00005
NM_004333.6(BRAF):c.1992+8T>C rs753545284 0.00005
NM_004341.5(CAD):c.6367G>A (p.Gly2123Ser) rs367846045 0.00005
NM_004360.5(CDH1):c.1019C>T (p.Thr340Met) rs61747631 0.00005
NM_004360.5(CDH1):c.1988A>G (p.Tyr663Cys) rs372182377 0.00005
NM_004385.5(VCAN):c.9049G>C (p.Ala3017Pro) rs774896703 0.00005
NM_004387.4(NKX2-5):c.890_891dup (p.Gly298fs) rs778545351 0.00005
NM_004525.3(LRP2):c.11461G>A (p.Ala3821Thr) rs778317120 0.00005
NM_004655.4(AXIN2):c.1450G>A (p.Gly484Ser) rs371446806 0.00005
NM_004750.5(CRLF1):c.242G>A (p.Arg81His) rs104894670 0.00005
NM_005005.3(NDUFB9):c.1A>G (p.Met1Val) rs369824948 0.00005
NM_005045.4(RELN):c.9478C>G (p.Leu3160Val) rs185075003 0.00005
NM_005188.4(CBL):c.2520T>G (p.Cys840Trp) rs112330156 0.00005
NM_005502.4(ABCA1):c.3902-19C>T rs868826271 0.00005
NM_005502.4(ABCA1):c.5757+12C>T rs769533549 0.00005
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr) rs557328600 0.00005
NM_005732.4(RAD50):c.2750C>T (p.Thr917Ile) rs562172843 0.00005
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln) rs104895051 0.00005
NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp) rs587782577 0.00005
NM_005751.5(AKAP9):c.6376A>C (p.Ser2126Arg) rs775673048 0.00005
NM_005902.4(SMAD3):c.440C>T (p.Pro147Leu) rs377026877 0.00005
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys) rs116260568 0.00005
NM_006506.5(RASA2):c.2226A>T (p.Ala742=) rs754617499 0.00005
NM_006734.4(HIVEP2):c.5621-7G>T rs749037306 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.1785+19G>A rs777075178 0.00005
NM_006796.3(AFG3L2):c.1762G>A (p.Ala588Thr) rs374828650 0.00005
NM_006904.7(PRKDC):c.12343A>G (p.Asn4115Asp) rs529354763 0.00005
NM_006907.4(PYCR1):c.866A>G (p.Lys289Arg) rs34575645 0.00005
NM_006949.4(STXBP2):c.1356+5G>A rs748635794 0.00005
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln) rs762985970 0.00005
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685 0.00005
NM_007294.4(BRCA1):c.2387C>T (p.Thr796Ile) rs80357364 0.00005
NM_007315.4(STAT1):c.1582+7G>A rs762378892 0.00005
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro) rs145907585 0.00005
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile) rs542912704 0.00005
NM_014008.5(CCDC22):c.1600C>T (p.Arg534Trp) rs148054424 0.00005
NM_014009.4(FOXP3):c.816+6C>T rs781919619 0.00005
NM_014363.6(SACS):c.11363G>A (p.Arg3788His) rs147369196 0.00005
NM_015215.4(CAMTA1):c.718G>A (p.Val240Met) rs755920468 0.00005
NM_015311.3(OBSL1):c.4420C>T (p.Arg1474Ter) rs764560783 0.00005
NM_015466.4(PTPN23):c.2689C>T (p.Pro897Ser) rs375853008 0.00005
NM_015665.6(AAAS):c.772C>T (p.Arg258Trp) rs182489063 0.00005
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_017534.6(MYH2):c.1535C>T (p.Thr512Met) rs376478405 0.00005
NM_018062.4(FANCL):c.1051_1052dup (p.Ser351fs) rs750871999 0.00005
NM_018062.4(FANCL):c.374+18_374+29del rs775890254 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_020366.4(RPGRIP1):c.2512A>G (p.Ile838Val) rs772480252 0.00005
NM_020762.4(SRGAP1):c.2734A>G (p.Arg912Gly) rs572030421 0.00005
NM_020778.5(ALPK3):c.4575G>T (p.Lys1525Asn) rs116112514 0.00005
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) rs376835062 0.00005
NM_021913.5(AXL):c.236C>T (p.Ala79Val) rs776776986 0.00005
NM_021927.3(GUF1):c.715A>G (p.Ile239Val) rs7666143 0.00005
NM_022124.6(CDH23):c.3407G>A (p.Arg1136His) rs753822806 0.00005
NM_024675.4(PALB2):c.1337A>T (p.Asp446Val) rs146434474 0.00005
NM_024675.4(PALB2):c.3404G>A (p.Gly1135Glu) rs730881894 0.00005
NM_025114.4(CEP290):c.4865G>A (p.Arg1622His) rs758453972 0.00005
NM_030662.4(MAP2K2):c.281C>T (p.Ser94Leu) rs202220799 0.00005
NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln) rs376346077 0.00005
NM_032043.3(BRIP1):c.1688A>G (p.Asp563Gly) rs577768294 0.00005
NM_032043.3(BRIP1):c.2863A>C (p.Asn955His) rs587782244 0.00005
NM_032043.3(BRIP1):c.3237T>G (p.Ile1079Met) rs587781666 0.00005
NM_032119.4(ADGRV1):c.4703G>A (p.Ser1568Asn) rs758104018 0.00005
NM_033337.3(CAV3):c.451G>A (p.Val151Ile) rs780870487 0.00005
NM_033380.3(COL4A5):c.4550G>A (p.Arg1517His) rs104886285 0.00005
NM_057176.3(BSND):c.673C>T (p.Gln225Ter) rs776107884 0.00005
NM_138694.4(PKHD1):c.3368G>A (p.Gly1123Asp) rs148356158 0.00005
NM_139076.3(ABRAXAS1):c.853C>T (p.Arg285Trp) rs150371881 0.00005
NM_152618.3(BBS12):c.1055A>C (p.Gln352Pro) rs767068756 0.00005
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala) rs201296399 0.00005
NM_153240.5(NPHP3):c.2342G>A (p.Gly781Asp) rs781180515 0.00005
NM_173076.3(ABCA12):c.4969G>A (p.Val1657Met) rs201708455 0.00005
NM_174936.4(PCSK9):c.1630G>A (p.Ala544Thr) rs1026987232 0.00005
NM_182961.4(SYNE1):c.6231-12T>C rs370687503 0.00005
NM_194248.3(OTOF):c.1871G>A (p.Arg624Gln) rs775956205 0.00005
NM_198129.4(LAMA3):c.8162T>C (p.Ile2721Thr) rs144798744 0.00005
NM_203447.4(DOCK8):c.2205+6G>C rs1386347360 0.00005
NM_206933.4(USH2A):c.14557A>G (p.Met4853Val) rs753594462 0.00005
NM_206933.4(USH2A):c.2792G>A (p.Cys931Tyr) rs145383772 0.00005
NM_206933.4(USH2A):c.7000A>G (p.Asn2334Asp) rs201281141 0.00005
NM_206933.4(USH2A):c.9110G>A (p.Arg3037His) rs533700989 0.00005
NM_000016.6(ACADM):c.1118T>C (p.Val373Ala) rs373057729 0.00004
NM_000016.6(ACADM):c.388-5G>A rs759254037 0.00004
NM_000036.3(AMPD1):c.1974+1G>A rs145328844 0.00004
NM_000038.6(APC):c.2297C>T (p.Ala766Val) rs200339830 0.00004
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732 0.00004
NM_000038.6(APC):c.317G>A (p.Arg106His) rs201764637 0.00004
NM_000038.6(APC):c.3245C>G (p.Thr1082Ser) rs730881244 0.00004
NM_000038.6(APC):c.3368A>C (p.Gln1123Pro) rs587779789 0.00004
NM_000038.6(APC):c.3436C>T (p.Arg1146Cys) rs202168805 0.00004
NM_000038.6(APC):c.4073C>T (p.Ala1358Val) rs730881249 0.00004
NM_000038.6(APC):c.4395T>A (p.Ser1465Arg) rs779898882 0.00004
NM_000038.6(APC):c.449A>G (p.Lys150Arg) rs371085910 0.00004
NM_000038.6(APC):c.4714A>T (p.Ile1572Phe) rs750107668 0.00004
NM_000038.6(APC):c.4901C>T (p.Pro1634Leu) rs370433763 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000038.6(APC):c.5540C>T (p.Thr1847Met) rs371686531 0.00004
NM_000038.6(APC):c.5839A>G (p.Thr1947Ala) rs746346292 0.00004
NM_000038.6(APC):c.6019T>C (p.Tyr2007His) rs745811356 0.00004
NM_000038.6(APC):c.6020A>G (p.Tyr2007Cys) rs752604668 0.00004
NM_000038.6(APC):c.6117G>T (p.Leu2039Phe) rs372418435 0.00004
NM_000038.6(APC):c.6639G>A (p.Met2213Ile) rs35540155 0.00004
NM_000038.6(APC):c.669A>C (p.Gln223His) rs769482880 0.00004
NM_000038.6(APC):c.6977G>A (p.Arg2326Gln) rs531178000 0.00004
NM_000038.6(APC):c.7402T>C (p.Ser2468Pro) rs375586273 0.00004
NM_000038.6(APC):c.7540A>G (p.Thr2514Ala) rs545125246 0.00004
NM_000038.6(APC):c.7570A>G (p.Lys2524Glu) rs143060722 0.00004
NM_000038.6(APC):c.883A>G (p.Ser295Gly) rs587780611 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.283C>A (p.Gln95Lys) rs587781545 0.00004
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met) rs759951393 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.5278A>G (p.Met1760Val) rs151327241 0.00004
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro) rs376521407 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met) rs141534716 0.00004
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu) rs778267979 0.00004
NM_000053.4(ATP7B):c.1158G>T (p.Gly386=) rs778775834 0.00004
NM_000053.4(ATP7B):c.2183A>G (p.Asn728Ser) rs760713333 0.00004
NM_000053.4(ATP7B):c.3332G>A (p.Gly1111Asp) rs182659444 0.00004
NM_000053.4(ATP7B):c.3623C>T (p.Thr1208Met) rs370713752 0.00004
NM_000053.4(ATP7B):c.4070C>T (p.Ala1357Val) rs769949264 0.00004
NM_000055.4(BCHE):c.1544G>C (p.Ser515Thr) rs371869257 0.00004
NM_000055.4(BCHE):c.1574A>T (p.Glu525Val) rs121918556 0.00004
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys) rs55880859 0.00004
NM_000057.4(BLM):c.2696G>A (p.Arg899Gln) rs748054605 0.00004
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241 0.00004
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser) rs80358425 0.00004
NM_000059.4(BRCA2):c.3167A>G (p.Gln1056Arg) rs431825301 0.00004
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) rs375125172 0.00004
NM_000059.4(BRCA2):c.3749A>G (p.Glu1250Gly) rs56400215 0.00004
NM_000059.4(BRCA2):c.3900_3902del (p.Met1300_Thr1301delinsIle) rs397507697 0.00004
NM_000059.4(BRCA2):c.4412G>T (p.Arg1471Ile) rs786203839 0.00004
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226 0.00004
NM_000059.4(BRCA2):c.5626G>A (p.Glu1876Lys) rs397507793 0.00004
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817 0.00004
NM_000059.4(BRCA2):c.6058G>A (p.Glu2020Lys) rs80358842 0.00004
NM_000059.4(BRCA2):c.6196G>A (p.Val2066Ile) rs397507365 0.00004
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866 0.00004
NM_000059.4(BRCA2):c.6295A>G (p.Arg2099Gly) rs398122551 0.00004
NM_000059.4(BRCA2):c.631+18G>A rs759965817 0.00004
NM_000059.4(BRCA2):c.7010C>T (p.Thr2337Ile) rs80358927 0.00004
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly) rs756105620 0.00004
NM_000059.4(BRCA2):c.9247A>G (p.Lys3083Glu) rs80359190 0.00004
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys) rs80359237 0.00004
NM_000069.3(CACNA1S):c.2632G>A (p.Val878Met) rs202131129 0.00004
NM_000070.3(CAPN3):c.1001A>T (p.His334Leu) rs749863676 0.00004
NM_000070.3(CAPN3):c.1678A>G (p.Thr560Ala) rs146845466 0.00004
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His) rs190793093 0.00004
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu) rs755106884 0.00004
NM_000075.4(CDK4):c.898G>A (p.Gly300Ser) rs879254241 0.00004
NM_000083.3(CLCN1):c.1748A>G (p.Gln583Arg) rs747895358 0.00004
NM_000090.4(COL3A1):c.2489C>T (p.Pro830Leu) rs886038849 0.00004
NM_000090.4(COL3A1):c.3433A>G (p.Ser1145Gly) rs147706051 0.00004
NM_000090.4(COL3A1):c.3607G>A (p.Ala1203Thr) rs550665335 0.00004
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser) rs184730597 0.00004
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000096.4(CP):c.623A>G (p.Glu208Gly) rs200933607 0.00004
NM_000098.3(CPT2):c.1189G>A (p.Val397Ile) rs201745292 0.00004
NM_000098.3(CPT2):c.691C>T (p.Arg231Trp) rs373638740 0.00004
NM_000104.4(CYP1B1):c.128G>C (p.Arg43Pro) rs1344079298 0.00004
NM_000104.4(CYP1B1):c.431A>G (p.Gln144Arg) rs753847648 0.00004
NM_000110.4(DPYD):c.321+15A>C rs370363977 0.00004
NM_000112.4(SLC26A2):c.797C>T (p.Thr266Ile) rs199789515 0.00004
NM_000123.4(ERCC5):c.2620G>A (p.Ala874Thr) rs121434576 0.00004
NM_000124.4(ERCC6):c.3083A>T (p.Asp1028Val) rs1474441899 0.00004
NM_000129.4(F13A1):c.1504G>A (p.Gly502Arg) rs121913068 0.00004
NM_000132.4(F8):c.5009C>T (p.Thr1670Ile) rs200396298 0.00004
NM_000136.3(FANCC):c.1604G>A (p.Arg535His) rs587779902 0.00004
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile) rs778966663 0.00004
NM_000138.5(FBN1):c.1880G>A (p.Arg627His) rs746073643 0.00004
NM_000138.5(FBN1):c.1951G>A (p.Val651Met) rs1335043561 0.00004
NM_000138.5(FBN1):c.2419+13T>A rs372885314 0.00004
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000138.5(FBN1):c.3462C>T (p.Ile1154=) rs144339604 0.00004
NM_000138.5(FBN1):c.3503A>G (p.Asn1168Ser) rs776667707 0.00004
NM_000138.5(FBN1):c.7210G>A (p.Asp2404Asn) rs530059069 0.00004
NM_000138.5(FBN1):c.7700-13G>C rs775509707 0.00004
NM_000138.5(FBN1):c.8179G>A (p.Gly2727Ser) rs758748297 0.00004
NM_000142.5(FGFR3):c.2028C>T (p.Asp676=) rs754598297 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000153.4(GALC):c.1709C>A (p.Thr570Asn) rs540808138 0.00004
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029 0.00004
NM_000153.4(GALC):c.226G>A (p.Glu76Lys) rs778447883 0.00004
NM_000153.4(GALC):c.500A>G (p.Asn167Ser) rs768993170 0.00004
NM_000155.4(GALT):c.197C>T (p.Pro66Leu) rs111033656 0.00004
NM_000155.4(GALT):c.44C>T (p.Ser15Leu) rs759270191 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_000173.7(GP1BA):c.380G>A (p.Arg127Gln) rs749454966 0.00004
NM_000178.4(GSS):c.472C>T (p.Arg158Trp) rs761900749 0.00004
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr) rs587779207 0.00004
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr) rs200938360 0.00004
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys) rs369456858 0.00004
NM_000179.3(MSH6):c.1937A>G (p.Lys646Arg) rs201096652 0.00004
NM_000179.3(MSH6):c.3257C>T (p.Pro1086Leu) rs780345806 0.00004
NM_000179.3(MSH6):c.749T>C (p.Val250Ala) rs587781275 0.00004
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn) rs876658610 0.00004
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu) rs751025746 0.00004
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) rs767103817 0.00004
NM_000190.4(HMBS):c.65G>A (p.Arg22His) rs760087108 0.00004
NM_000195.5(HPS1):c.389T>C (p.Ile130Thr) rs367640909 0.00004
NM_000218.3(KCNQ1):c.1945G>A (p.Asp649Asn) rs781333509 0.00004
NM_000218.3(KCNQ1):c.889G>A (p.Gly297Ser) rs34320941 0.00004
NM_000237.3(LPL):c.373G>A (p.Ala125Thr) rs199675233 0.00004
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg) rs1268162009 0.00004
NM_000239.3(LYZ):c.156G>A (p.Trp52Ter) rs764263034 0.00004
NM_000239.3(LYZ):c.175C>T (p.Arg59Ter) rs374990260 0.00004
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val) rs144270019 0.00004
NM_000243.3(MEFV):c.1587+7G>A rs375555497 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000243.3(MEFV):c.611G>A (p.Arg204His) rs775663363 0.00004
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr) rs141344760 0.00004
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr) rs63751145 0.00004
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln) rs63751630 0.00004
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala) rs267607840 0.00004
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys) rs63750465 0.00004
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys) rs367654552 0.00004
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala) rs371302926 0.00004
NM_000249.4(MLH1):c.945C>G (p.His315Gln) rs587779959 0.00004
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu) rs779759678 0.00004
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu) rs63750611 0.00004
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys) rs63750029 0.00004
NM_000251.3(MSH2):c.1601G>A (p.Arg534His) rs587778523 0.00004
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe) rs730881777 0.00004
NM_000251.3(MSH2):c.860G>C (p.Gly287Ala) rs587782567 0.00004
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168 0.00004
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys) rs397516033 0.00004
NM_000257.4(MYH7):c.211G>A (p.Val71Met) rs730880830 0.00004
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val) rs149576470 0.00004
NM_000257.4(MYH7):c.5790+14T>A rs370553746 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 0.00004
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu) rs368687817 0.00004
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys) rs764195249 0.00004
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn) rs559293815 0.00004
NM_000264.5(PTCH1):c.3005C>T (p.Thr1002Met) rs769924767 0.00004
NM_000264.5(PTCH1):c.71C>T (p.Pro24Leu) rs767973616 0.00004
NM_000271.5(NPC1):c.2911+4C>T rs186588103 0.00004
NM_000271.5(NPC1):c.3556C>T (p.Arg1186Cys) rs145297180 0.00004
NM_000271.5(NPC1):c.3560C>T (p.Ala1187Val) rs113371321 0.00004
NM_000275.3(OCA2):c.530_532del (p.Trp177del) rs763726841 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.2084C>T (p.Ser695Phe) rs767559014 0.00004
NM_000293.3(PHKB):c.754T>C (p.Phe252Leu) rs373920188 0.00004
NM_000304.4(PMP22):c.185T>G (p.Leu62Arg) rs756046682 0.00004
NM_000314.6(PTEN):c.-856C>G rs587779996 0.00004
NM_000330.4(RS1):c.522+5G>A rs200074383 0.00004
NM_000334.4(SCN4A):c.205G>A (p.Gly69Arg) rs886053249 0.00004
NM_000335.5(SCN5A):c.2002G>A (p.Val668Ile) rs768055977 0.00004
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu) rs755194086 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.4807G>A (p.Val1603Met) rs199473280 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000336.3(SCNN1B):c.1904G>A (p.Ser635Asn) rs13306629 0.00004
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile) rs759961510 0.00004
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His) rs372153432 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000368.5(TSC1):c.1126G>T (p.Val376Phe) rs1461609607 0.00004
NM_000369.5(TSHR):c.2120G>A (p.Arg707Gln) rs368452281 0.00004
NM_000370.3(TTPA):c.95G>A (p.Arg32Gln) rs780199989 0.00004
NM_000391.4(TPP1):c.797G>A (p.Arg266Gln) rs757953998 0.00004
NM_000400.4(ERCC2):c.1801C>T (p.Arg601Trp) rs753641926 0.00004
NM_000400.4(ERCC2):c.442C>T (p.His148Tyr) rs201382232 0.00004
NM_000410.4(HFE):c.175G>A (p.Val59Met) rs111033557 0.00004
NM_000416.3(IFNGR1):c.547A>G (p.Ile183Val) rs752756474 0.00004
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn) rs149078011 0.00004
NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu) rs397516431 0.00004
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu) rs143456575 0.00004
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp) rs202164519 0.00004
NM_000455.5(STK11):c.298C>G (p.Gln100Glu) rs757841535 0.00004
NM_000455.5(STK11):c.316C>T (p.Arg106Trp) rs587782115 0.00004
NM_000455.5(STK11):c.631C>T (p.Arg211Trp) rs185087320 0.00004
NM_000455.5(STK11):c.827G>T (p.Gly276Val) rs749927908 0.00004
NM_000465.4(BARD1):c.1294C>T (p.Leu432Phe) rs185164724 0.00004
NM_000465.4(BARD1):c.1877A>G (p.Asn626Ser) rs587781443 0.00004
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr) rs587780030 0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491 0.00004
NM_000465.4(BARD1):c.365-7C>T rs745929983 0.00004
NM_000465.4(BARD1):c.581G>A (p.Arg194Lys) rs181748854 0.00004
NM_000465.4(BARD1):c.644A>G (p.Asn215Ser) rs774929973 0.00004
NM_000465.4(BARD1):c.76A>G (p.Met26Val) rs587781570 0.00004
NM_000465.4(BARD1):c.97G>C (p.Ala33Pro) rs587782465 0.00004
NM_000478.6(ALPL):c.1541C>T (p.Ala514Val) rs371373128 0.00004
NM_000481.4(AMT):c.752C>G (p.Pro251Arg) rs770999859 0.00004
NM_000492.4(CFTR):c.1210G>C (p.Gly404Arg) rs200899224 0.00004
NM_000492.4(CFTR):c.1680-6T>G rs949851823 0.00004
NM_000492.4(CFTR):c.1718C>T (p.Ser573Phe) rs772223589 0.00004
NM_000492.4(CFTR):c.1745C>T (p.Thr582Ile) rs397508293 0.00004
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln) rs369040061 0.00004
NM_000492.4(CFTR):c.2563G>A (p.Val855Ile) rs397508397 0.00004
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln) rs769448889 0.00004
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala) rs397508511 0.00004
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu) rs397508542 0.00004
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994 0.00004
NM_000492.4(CFTR):c.355A>G (p.Ile119Val) rs193922518 0.00004
NM_000492.4(CFTR):c.358G>A (p.Ala120Thr) rs201958172 0.00004
NM_000492.4(CFTR):c.4096A>T (p.Ile1366Phe) rs770345073 0.00004
NM_000492.4(CFTR):c.454A>T (p.Met152Leu) rs397508721 0.00004
NM_000492.4(CFTR):c.490A>G (p.Thr164Ala) rs200885306 0.00004
NM_000492.4(CFTR):c.638G>A (p.Gly213Glu) rs775701644 0.00004
NM_000492.4(CFTR):c.926C>G (p.Ala309Gly) rs397508818 0.00004
NM_000498.3(CYP11B2):c.59G>A (p.Arg20Lys) rs1463986346 0.00004
NM_000518.5(HBB):c.316-81T>A rs911937119 0.00004
NM_000520.5(HEXA):c.-2343_-2342delAA rs561605340 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818 0.00004
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382 0.00004
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln) rs372539944 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala) rs376931673 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696 0.00004
NM_000540.3(RYR1):c.10458C>T (p.Ser3486=) rs770132934 0.00004
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769 0.00004
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413 0.00004
NM_000546.6(TP53):c.460G>A (p.Gly154Ser) rs137852789 0.00004
NM_000548.5(TSC2):c.3710C>T (p.Ala1237Val) rs753907159 0.00004
NM_000548.5(TSC2):c.5308C>T (p.Pro1770Ser) rs761181064 0.00004
NM_000548.5(TSC2):c.861G>C (p.Glu287Asp) rs192567788 0.00004
NM_000548.5(TSC2):c.921C>G (p.His307Gln) rs878854121 0.00004
NM_000550.3(TYRP1):c.1538C>G (p.Pro513Arg) rs532941663 0.00004
NM_000551.4(VHL):c.631A>C (p.Met211Leu) rs200019083 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.7493C>A (p.Ala2498Asp) rs369669154 0.00004
NM_000552.5(VWF):c.8164C>G (p.Pro2722Ala) rs62641244 0.00004
NM_000742.4(CHRNA2):c.1117T>C (p.Cys373Arg) rs137965290 0.00004
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000875.5(IGF1R):c.721G>A (p.Ala241Thr) rs775630539 0.00004
NM_001002294.3(FMO3):c.613C>T (p.Arg205Cys) rs28363549 0.00004
NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp) rs377381866 0.00004
NM_001005242.3(PKP2):c.1379-2102C>G rs762631031 0.00004
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr) rs558637427 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001018115.3(FANCD2):c.256C>T (p.His86Tyr) rs767659342 0.00004
NM_001035.3(RYR2):c.1005+7C>T rs774100182 0.00004
NM_001035.3(RYR2):c.11557+15G>A rs761490797 0.00004
NM_001035.3(RYR2):c.12837G>A (p.Met4279Ile) rs750117613 0.00004
NM_001035.3(RYR2):c.13913+17A>G rs371894104 0.00004
NM_001035.3(RYR2):c.2718+19T>C rs773320230 0.00004
NM_001035.3(RYR2):c.3896T>C (p.Ile1299Thr) rs772551383 0.00004
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala) rs773678614 0.00004
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met) rs770863319 0.00004
NM_001036.6(RYR3):c.12978+3A>G rs775487863 0.00004
NM_001036.6(RYR3):c.9142C>T (p.Arg3048Cys) rs763223227 0.00004
NM_001039770.3(TMPPE):c.-398A>G rs369627064 0.00004
NM_001040142.2(SCN2A):c.5672T>A (p.Val1891Asp) rs758908934 0.00004
NM_001042492.3(NF1):c.181A>G (p.Ile61Val) rs754295034 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.61-9T>C rs780956522 0.00004
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00004
NM_001042492.3(NF1):c.7528A>G (p.Thr2510Ala) rs145794301 0.00004
NM_001044385.3(TMEM237):c.574C>T (p.Arg192Cys) rs202092408 0.00004
NM_001048174.2(MUTYH):c.1309C>G (p.Pro437Ala) rs375597447 0.00004
NM_001048174.2(MUTYH):c.1336C>T (p.Arg446Cys) rs200229669 0.00004
NM_001048174.2(MUTYH):c.305-6C>T rs376600220 0.00004
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys) rs587780748 0.00004
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile) rs759295912 0.00004
NM_001048174.2(MUTYH):c.797G>A (p.Arg266His) rs146044717 0.00004
NM_001077365.2(POMT1):c.699+85C>G rs369000699 0.00004
NM_001083116.3(PRF1):c.614A>G (p.Asn205Ser) rs770354747 0.00004
NM_001083116.3(PRF1):c.719G>A (p.Arg240His) rs751390468 0.00004
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His) rs368040932 0.00004
NM_001110556.2(FLNA):c.6175G>A (p.Glu2059Lys) rs782779958 0.00004
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001126049.2(KLLN):c.-1039G>A rs587779999 0.00004
NM_001127222.2(CACNA1A):c.1361G>A (p.Arg454Gln) rs561858384 0.00004
NM_001128159.3(VPS53):c.418C>T (p.Arg140Cys) rs762571777 0.00004
NM_001128227.3(GNE):c.18T>A (p.Tyr6Ter) rs200763627 0.00004
NM_001128918.3(MARK3):c.1917-11A>G rs557344866 0.00004
NM_001130823.3(DNMT1):c.2471C>T (p.Thr824Met) rs140993011 0.00004
NM_001130987.2(DYSF):c.4858C>T (p.Arg1620Cys) rs752946123 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_001134363.3(RBM20):c.533G>A (p.Arg178Gln) rs561085365 0.00004
NM_001134407.3(GRIN2A):c.989C>T (p.Pro330Leu) rs367543120 0.00004
NM_001134771.2(SLC12A5):c.74G>A (p.Arg25Gln) rs555710024 0.00004
NM_001142800.2(EYS):c.3164+7A>T rs963551759 0.00004
NM_001142800.2(EYS):c.3226T>C (p.Cys1076Arg) rs780935714 0.00004
NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu) rs1161453292 0.00004
NM_001142800.2(EYS):c.9235C>G (p.Leu3079Val) rs760931603 0.00004
NM_001148.6(ANK2):c.6973G>C (p.Asp2325His) rs1298469624 0.00004
NM_001164508.2(NEB):c.20131C>T (p.Arg6711Trp) rs533233215 0.00004
NM_001164508.2(NEB):c.21417+3A>G rs148950085 0.00004
NM_001164508.2(NEB):c.23710C>T (p.Arg7904Cys) rs758166991 0.00004
NM_001164508.2(NEB):c.8864A>G (p.Lys2955Arg) rs760903716 0.00004
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307 0.00004
NM_001184880.2(PCDH19):c.3355G>A (p.Glu1119Lys) rs369647740 0.00004
NM_001243133.2(NLRP3):c.2151-9A>C rs762817427 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_001267550.2(TTN):c.102272G>A (p.Arg34091Gln) rs763708375 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr) rs751914956 0.00004
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr) rs527924868 0.00004
NM_001267550.2(TTN):c.197C>T (p.Thr66Met) rs372755739 0.00004
NM_001267550.2(TTN):c.22303C>T (p.Pro7435Ser) rs375037712 0.00004
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu) rs183482849 0.00004
NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn) rs755202091 0.00004
NM_001267550.2(TTN):c.24571G>A (p.Glu8191Lys) rs201326258 0.00004
NM_001267550.2(TTN):c.26564G>T (p.Gly8855Val) rs767057972 0.00004
NM_001267550.2(TTN):c.28094G>A (p.Arg9365Gln) rs570608843 0.00004
NM_001267550.2(TTN):c.2840C>T (p.Ser947Leu) rs761200839 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.30826T>G (p.Ser10276Ala) rs778063825 0.00004
NM_001267550.2(TTN):c.30857T>C (p.Ile10286Thr) rs369094355 0.00004
NM_001267550.2(TTN):c.30941T>C (p.Ile10314Thr) rs886055288 0.00004
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716 0.00004
NM_001267550.2(TTN):c.36253C>T (p.Gln12085Ter) rs1384922524 0.00004
NM_001267550.2(TTN):c.39535C>T (p.Pro13179Ser) rs752224211 0.00004
NM_001267550.2(TTN):c.39887C>G (p.Pro13296Arg) rs760464072 0.00004
NM_001267550.2(TTN):c.40409-1G>A rs1285884266 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.43748-9T>G rs1048557788 0.00004
NM_001267550.2(TTN):c.45199G>A (p.Asp15067Asn) rs370904881 0.00004
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser) rs372404266 0.00004
NM_001267550.2(TTN):c.49049-16G>A rs369011743 0.00004
NM_001267550.2(TTN):c.52434T>G (p.Ile17478Met) rs554368924 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr) rs755700079 0.00004
NM_001267550.2(TTN):c.6367C>T (p.Arg2123Trp) rs777316854 0.00004
NM_001267550.2(TTN):c.71341G>A (p.Val23781Ile) rs146483596 0.00004
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp) rs755117644 0.00004
NM_001267550.2(TTN):c.78383G>A (p.Arg26128His) rs757957389 0.00004
NM_001267550.2(TTN):c.83821G>A (p.Glu27941Lys) rs545954394 0.00004
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys) rs200651247 0.00004
NM_001267550.2(TTN):c.94604G>T (p.Gly31535Val) rs200302364 0.00004
NM_001267550.2(TTN):c.95395A>G (p.Ile31799Val) rs370916420 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001291303.3(FAT4):c.14311C>T (p.Arg4771Cys) rs144845192 0.00004
NM_001318510.2(ACSL4):c.1490C>T (p.Ala497Val) rs956339615 0.00004
NM_001318510.2(ACSL4):c.517-6C>T rs1218350261 0.00004
NM_001330.5(CTF1):c.454G>C (p.Ala152Pro) rs1467275471 0.00004
NM_001349253.2(SCN11A):c.1054A>G (p.Met352Val) rs757066072 0.00004
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432 0.00004
NM_001352754.2(ARMC9):c.1340C>T (p.Pro447Leu) rs778877264 0.00004
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro) rs104893747 0.00004
NM_001360.3(DHCR7):c.1087C>T (p.Arg363Cys) rs547012639 0.00004
NM_001365308.1(BMPER):c.932G>C (p.Gly311Ala) rs779852774 0.00004
NM_001365951.3(KIF1B):c.3259+3A>C rs1388178227 0.00004
NM_001367624.2(ZNF469):c.2063C>A (p.Thr688Asn) rs281865146 0.00004
NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu) rs273585617 0.00004
NM_001367624.2(ZNF469):c.4276G>A (p.Glu1426Lys) rs868174994 0.00004
NM_001370466.1(NOD2):c.2284C>T (p.Leu762Phe) rs773758818 0.00004
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys) rs397514345 0.00004
NM_001374385.1(ATP8B1):c.212G>A (p.Arg71His) rs148715351 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_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu) rs199683521 0.00004
NM_001378454.1(ALMS1):c.12037G>A (p.Gly4013Ser) rs541576664 0.00004
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00004
NM_001378454.1(ALMS1):c.9782-19C>A rs777706370 0.00004
NM_001378457.1(DMXL2):c.1682A>G (p.Asn561Ser) rs750656460 0.00004
NM_001384140.1(PCDH15):c.833G>A (p.Arg278His) rs369442293 0.00004
NM_001384140.1(PCDH15):c.944C>T (p.Pro315Leu) rs138299477 0.00004
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) rs561122654 0.00004
NM_001384732.1(CPLANE1):c.2645A>G (p.Tyr882Cys) rs1012462823 0.00004
NM_001384732.1(CPLANE1):c.8410C>T (p.Pro2804Ser) rs377107065 0.00004
NM_001386393.1(PANK2):c.1255A>G (p.Ile419Val) rs761156912 0.00004
NM_001386795.1(DTNA):c.1841C>T (p.Thr614Met) rs757959636 0.00004
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr) rs199983981 0.00004
NM_001492.6(GDF1):c.796G>A (p.Ala266Thr) rs755707666 0.00004
NM_001677.4(ATP1B1):c.790A>G (p.Thr264Ala) rs760933888 0.00004
NM_001846.4(COL4A2):c.1513G>A (p.Ala505Thr) rs753867828 0.00004
NM_001848.3(COL6A1):c.667G>A (p.Asp223Asn) rs199842980 0.00004
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu) rs202094480 0.00004
NM_001908.5(CTSB):c.991C>T (p.Arg331Cys) rs148519031 0.00004
NM_001909.5(CTSD):c.283G>A (p.Val95Ile) rs141482597 0.00004
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409 0.00004
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001931.5(DLAT):c.1541C>T (p.Ala514Val) rs368631614 0.00004
NM_001931.5(DLAT):c.208C>T (p.Arg70Trp) rs782051284 0.00004
NM_001943.5(DSG2):c.1878A>G (p.Leu626=) rs771576658 0.00004
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638 0.00004
NM_001953.5(TYMP):c.128A>C (p.Lys43Thr) rs752137335 0.00004
NM_001963.6(EGF):c.1180C>T (p.Arg394Ter) rs369702571 0.00004
NM_001963.6(EGF):c.1864C>T (p.Arg622Ter) rs759896124 0.00004
NM_001999.4(FBN2):c.3342G>A (p.Thr1114=) rs532983875 0.00004
NM_002047.4(GARS1):c.59T>C (p.Leu20Pro) rs756664556 0.00004
NM_002160.4(TNC):c.3967A>G (p.Thr1323Ala) rs200961533 0.00004
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp) rs769261274 0.00004
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln) rs143348838 0.00004
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.624C>G (p.Ile208Met) rs566435665 0.00004
NM_002294.3(LAMP2):c.-7C>T rs762305947 0.00004
NM_002294.3(LAMP2):c.1093+9C>T rs371259269 0.00004
NM_002294.3(LAMP2):c.928+6C>T rs769837038 0.00004
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met) rs199686378 0.00004
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys) rs756244326 0.00004
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00004
NM_002474.3(MYH11):c.1768G>A (p.Ala590Thr) rs745516001 0.00004
NM_002474.3(MYH11):c.2579A>T (p.Glu860Val) rs373789068 0.00004
NM_002474.3(MYH11):c.2785G>T (p.Ala929Ser) rs906679954 0.00004
NM_002474.3(MYH11):c.301G>A (p.Val101Met) rs375159635 0.00004
NM_002485.5(NBN):c.224G>C (p.Gly75Ala) rs587782179 0.00004
NM_002485.5(NBN):c.506G>A (p.Arg169His) rs776134250 0.00004
NM_002485.5(NBN):c.683T>G (p.Ile228Arg) rs777460725 0.00004
NM_002485.5(NBN):c.73G>A (p.Val25Ile) rs587781748 0.00004
NM_002485.5(NBN):c.803C>T (p.Thr268Met) rs535602436 0.00004
NM_002693.3(POLG):c.2085T>G (p.Asp695Glu) rs776848222 0.00004
NM_002693.3(POLG):c.3649G>C (p.Ala1217Pro) rs569063066 0.00004
NM_002693.3(POLG):c.3667A>G (p.Ile1223Val) rs148786642 0.00004
NM_002693.3(POLG):c.487C>T (p.Pro163Ser) rs758454871 0.00004
NM_002693.3(POLG):c.863G>A (p.Arg288His) rs796052902 0.00004
NM_002769.5(PRSS1):c.247G>C (p.Gly83Arg) rs372411481 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002878.4(RAD51D):c.101C>T (p.Ala34Val) rs876658968 0.00004
NM_002878.4(RAD51D):c.185C>T (p.Ser62Leu) rs374357106 0.00004
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp) rs544654228 0.00004
NM_003119.4(SPG7):c.1198C>T (p.Arg400Trp) rs748024868 0.00004
NM_003172.4(SURF1):c.324-11T>C rs375398247 0.00004
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn) rs146277116 0.00004
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln) rs371209879 0.00004
NM_003384.3(VRK1):c.683C>T (p.Thr228Met) rs146113610 0.00004
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly) rs772138289 0.00004
NM_003477.3(PDHX):c.248C>T (p.Ala83Val) rs745866603 0.00004
NM_003560.4(PLA2G6):c.1375C>T (p.Arg459Trp) rs753484966 0.00004
NM_003647.3(DGKE):c.117G>C (p.Trp39Cys) rs201377251 0.00004
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp) rs553076953 0.00004
NM_004004.6(GJB2):c.-30C>T rs397516867 0.00004
NM_004004.6(GJB2):c.385G>A (p.Glu129Lys) rs397516875 0.00004
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004006.3(DMD):c.4397A>G (p.Asn1466Ser) rs910214749 0.00004
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser) rs766746479 0.00004
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile) rs201532491 0.00004
NM_004082.5(DCTN1):c.1324A>G (p.Met442Val) rs763480310 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004168.4(SDHA):c.563G>A (p.Arg188Gln) rs139881415 0.00004
NM_004208.4(AIFM1):c.141A>C (p.Glu47Asp) rs369523358 0.00004
NM_004281.4(BAG3):c.1291A>G (p.Lys431Glu) rs1374652846 0.00004
NM_004281.4(BAG3):c.191C>T (p.Ser64Phe) rs780615753 0.00004
NM_004329.3(BMPR1A):c.1498A>G (p.Met500Val) rs376651641 0.00004
NM_004329.3(BMPR1A):c.583C>A (p.Gln195Lys) rs771910503 0.00004
NM_004341.5(CAD):c.5347G>A (p.Val1783Ile) rs775234790 0.00004
NM_004360.5(CDH1):c.1244T>C (p.Ile415Thr) rs587782372 0.00004
NM_004360.5(CDH1):c.1501G>A (p.Val501Met) rs368690400 0.00004
NM_004360.5(CDH1):c.1793G>A (p.Arg598Gln) rs780759537 0.00004
NM_004360.5(CDH1):c.1865A>G (p.Asn622Ser) rs147925149 0.00004
NM_004360.5(CDH1):c.1936+8C>T rs776624068 0.00004
NM_004360.5(CDH1):c.2246G>A (p.Arg749Gln) rs530717933 0.00004
NM_004360.5(CDH1):c.2336G>A (p.Arg779Gln) rs587781311 0.00004
NM_004360.5(CDH1):c.2474C>T (p.Pro825Leu) rs587781312 0.00004
NM_004370.6(COL12A1):c.2314C>T (p.Pro772Ser) rs370256196 0.00004
NM_004393.6(DAG1):c.2326C>T (p.Arg776Cys) rs752441031 0.00004
NM_004415.4(DSP):c.137G>A (p.Gly46Asp) rs140403872 0.00004
NM_004415.4(DSP):c.5795G>A (p.Arg1932His) rs770522444 0.00004
NM_004493.3(HSD17B10):c.486+3G>A rs949464841 0.00004
NM_004523.4(KIF11):c.2836C>T (p.His946Tyr) rs201290831 0.00004
NM_004614.5(TK2):c.278A>G (p.Asn93Ser) rs142291440 0.00004
NM_004628.5(XPC):c.2453A>G (p.Lys818Arg) rs367953088 0.00004
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys) rs752712664 0.00004
NM_004937.3(CTNS):c.970+5G>A rs753451110 0.00004
NM_004958.4(MTOR):c.1870C>T (p.Arg624Cys) rs780398729 0.00004
NM_005045.4(RELN):c.10102G>A (p.Gly3368Arg) rs753769576 0.00004
NM_005050.4(ABCD4):c.362G>A (p.Arg121His) rs201744101 0.00004
NM_005188.4(CBL):c.1648C>T (p.Arg550Trp) rs202065722 0.00004
NM_005188.4(CBL):c.1942-17T>C rs907111206 0.00004
NM_005188.4(CBL):c.2486G>A (p.Arg829Gln) rs374672276 0.00004
NM_005247.4(FGF3):c.280G>A (p.Gly94Arg) rs782507721 0.00004
NM_005327.7(HADH):c.908G>T (p.Gly303Val) rs575378007 0.00004
NM_005373.3(MPL):c.1609C>T (p.Arg537Trp) rs148784027 0.00004
NM_005413.4(SIX3):c.164G>A (p.Gly55Glu) rs772677168 0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe) rs369328625 0.00004
NM_005585.5(SMAD6):c.776T>C (p.Val259Ala) rs1049275389 0.00004
NM_005591.4(MRE11):c.1052G>A (p.Arg351His) rs587780133 0.00004
NM_005633.4(SOS1):c.2587C>A (p.Gln863Lys) rs141501083 0.00004
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe) rs374341202 0.00004
NM_005732.4(RAD50):c.281T>C (p.Ile94Thr) rs768127412 0.00004
NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile) rs748377319 0.00004
NM_005732.4(RAD50):c.625G>C (p.Glu209Gln) rs587780158 0.00004
NM_005732.4(RAD50):c.695C>A (p.Ala232Asp) rs28903089 0.00004
NM_005901.6(SMAD2):c.242G>T (p.Cys81Phe) rs908853616 0.00004
NM_005902.4(SMAD3):c.872-12G>C rs768529580 0.00004
NM_006019.4(TCIRG1):c.391G>A (p.Val131Met) rs377377656 0.00004
NM_006312.6(NCOR2):c.6520C>T (p.Arg2174Cys) rs761892157 0.00004
NM_006383.4(CIB2):c.130A>G (p.Met44Val) rs142260703 0.00004
NM_006506.5(RASA2):c.656C>T (p.Pro219Leu) rs944578775 0.00004
NM_006506.5(RASA2):c.71C>T (p.Pro24Leu) rs536687230 0.00004
NM_006662.3(SRCAP):c.8405C>T (p.Ser2802Phe) rs376510159 0.00004
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile) rs373591504 0.00004
NM_006767.4(LZTR1):c.1433G>A (p.Arg478Gln) rs138036477 0.00004
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met) rs199586863 0.00004
NM_006767.4(LZTR1):c.400+10C>T rs375186405 0.00004
NM_006767.4(LZTR1):c.946G>A (p.Val316Met) rs370315661 0.00004
NM_006785.4(MALT1):c.92A>G (p.Asn31Ser) rs888829305 0.00004
NM_006939.4(SOS2):c.3788C>G (p.Pro1263Arg) rs569343105 0.00004
NM_006949.4(STXBP2):c.1001C>T (p.Pro334Leu) rs747031778 0.00004
NM_007074.4(CORO1A):c.1237G>A (p.Gly413Arg) rs751313483 0.00004
NM_007103.4(NDUFV1):c.248C>T (p.Ser83Leu) rs779150755 0.00004
NM_007118.4(TRIO):c.1143G>C (p.Gln381His) rs369621289 0.00004
NM_007194.4(CHEK2):c.*2dup rs749257861 0.00004
NM_007194.4(CHEK2):c.1008G>A (p.Gln336=) rs201544715 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile) rs370968992 0.00004
NM_007194.4(CHEK2):c.727T>C (p.Cys243Arg) rs141776984 0.00004
NM_007294.4(BRCA1):c.-16A>G rs777262055 0.00004
NM_007294.4(BRCA1):c.1016A>C (p.Lys339Thr) rs587781737 0.00004
NM_007294.4(BRCA1):c.2518A>G (p.Ser840Gly) rs377475866 0.00004
NM_007294.4(BRCA1):c.2884G>A (p.Glu962Lys) rs80356955 0.00004
NM_007294.4(BRCA1):c.2936G>A (p.Arg979His) rs80356985 0.00004
NM_007294.4(BRCA1):c.3394A>G (p.Asn1132Asp) rs530464947 0.00004
NM_007294.4(BRCA1):c.3758C>G (p.Ser1253Cys) rs397509100 0.00004
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457 0.00004
NM_007294.4(BRCA1):c.976G>C (p.Glu326Gln) rs773433679 0.00004
NM_007373.4(SHOC2):c.1423-15T>C rs775689426 0.00004
NM_012463.4(ATP6V0A2):c.298C>G (p.Gln100Glu) rs551494374 0.00004
NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile) rs780788821 0.00004
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) rs202237807 0.00004
NM_013975.4(LIG3):c.2796+20C>T rs778468086 0.00004
NM_014009.4(FOXP3):c.152G>A (p.Arg51Gln) rs1170772176 0.00004
NM_014009.4(FOXP3):c.323C>T (p.Thr108Met) rs782572328 0.00004
NM_014049.5(ACAD9):c.1684G>A (p.Asp562Asn) rs547697115 0.00004
NM_014049.5(ACAD9):c.538C>T (p.Leu180Phe) rs146453758 0.00004
NM_014141.6(CNTNAP2):c.511C>T (p.Arg171Cys) rs375032955 0.00004
NM_014704.4(CEP104):c.46G>A (p.Glu16Lys) rs200997681 0.00004
NM_014704.4(CEP104):c.889C>G (p.Leu297Val) rs367663723 0.00004
NM_014780.5(CUL7):c.2947C>T (p.Arg983Cys) rs147713438 0.00004
NM_014780.5(CUL7):c.3893A>G (p.Asn1298Ser) rs765531212 0.00004
NM_014845.6(FIG4):c.2080A>G (p.Met694Val) rs143531641 0.00004
NM_015311.3(OBSL1):c.1034G>A (p.Arg345Gln) rs781161790 0.00004
NM_015404.4(WHRN):c.2540A>G (p.Gln847Arg) rs545326842 0.00004
NM_015602.4(TOR1AIP1):c.1456G>A (p.Ala486Thr) rs138345857 0.00004
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln) rs764804901 0.00004
NM_015631.6(TCTN3):c.1520dup (p.Gly508fs) rs755903123 0.00004
NM_015909.4(NBAS):c.245G>A (p.Arg82His) rs763005913 0.00004
NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) rs146539065 0.00004
NM_017547.4(FOXRED1):c.1112C>T (p.Pro371Leu) rs773871022 0.00004
NM_017547.4(FOXRED1):c.7C>T (p.Arg3Trp) rs756466676 0.00004
NM_017617.5(NOTCH1):c.1903+10C>G rs375704312 0.00004
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His) rs542798158 0.00004
NM_017780.4(CHD7):c.8639C>T (p.Pro2880Leu) rs113938624 0.00004
NM_017934.7(PHIP):c.3766C>G (p.Leu1256Val) rs975606164 0.00004
NM_018075.5(ANO10):c.512T>C (p.Phe171Ser) rs373386030 0.00004
NM_018136.5(ASPM):c.5302C>T (p.Arg1768Trp) rs770335356 0.00004
NM_018668.5(VPS33B):c.1170+5G>A rs201431055 0.00004
NM_018941.4(CLN8):c.545C>T (p.Ala182Val) rs541994118 0.00004
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser) rs386834136 0.00004
NM_019066.5(MAGEL2):c.2797G>A (p.Asp933Asn) rs567298347 0.00004
NM_019109.5(ALG1):c.814C>T (p.Arg272Cys) rs774593969 0.00004
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715 0.00004
NM_020320.5(RARS2):c.1718C>T (p.Thr573Ile) rs541516452 0.00004
NM_020533.3(MCOLN1):c.1134+5G>A rs781005728 0.00004
NM_020944.3(GBA2):c.1A>T (p.Met1Leu) rs770566458 0.00004
NM_020975.6(RET):c.3116C>T (p.Pro1039Leu) rs79853121 0.00004
NM_021098.3(CACNA1H):c.2990C>T (p.Ala997Val) rs375023370 0.00004
NM_021098.3(CACNA1H):c.4736G>A (p.Arg1579Gln) rs367947771 0.00004
NM_021628.3(ALOXE3):c.397A>G (p.Arg133Gly) rs373520842 0.00004
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_021942.6(TRAPPC11):c.2330A>C (p.Gln777Pro) rs758105113 0.00004
NM_022081.6(HPS4):c.949_972dup (p.Ala317_Glu324dup) rs281865164 0.00004
NM_022124.6(CDH23):c.1363G>A (p.Asp455Asn) rs727502920 0.00004
NM_022124.6(CDH23):c.1745G>A (p.Arg582Gln) rs200263980 0.00004
NM_022124.6(CDH23):c.5747G>A (p.Arg1916His) rs746971522 0.00004
NM_022124.6(CDH23):c.6557C>T (p.Ser2186Leu) rs770370555 0.00004
NM_022132.5(MCCC2):c.1663A>G (p.Lys555Glu) rs1257849672 0.00004
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792 0.00004
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala) rs781732933 0.00004
NM_022455.5(NSD1):c.3220C>T (p.Arg1074Cys) rs775044010 0.00004
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) rs758125212 0.00004
NM_023036.6(DNAI2):c.1142T>C (p.Leu381Pro) rs373836524 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 0.00004
NM_024422.6(DSC2):c.2251-20G>A rs779900062 0.00004
NM_024422.6(DSC2):c.286A>G (p.Ile96Val) rs772447450 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_024570.4(RNASEH2B):c.744A>C (p.Lys248Asn) rs748144224 0.00004
NM_024649.5(BBS1):c.745G>A (p.Val249Ile) rs139145556 0.00004
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys) rs373483056 0.00004
NM_024675.4(PALB2):c.1316G>T (p.Gly439Val) rs537258442 0.00004
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr) rs756116550 0.00004
NM_024675.4(PALB2):c.2557G>A (p.Gly853Ser) rs587782579 0.00004
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile) rs376641234 0.00004
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys) rs45476495 0.00004
NM_024675.4(PALB2):c.3247G>A (p.Glu1083Lys) rs747785029 0.00004
NM_024675.4(PALB2):c.668T>C (p.Ile223Thr) rs150517167 0.00004
NM_025074.7(FRAS1):c.10894C>T (p.Pro3632Ser) rs576835969 0.00004
NM_025074.7(FRAS1):c.2080G>A (p.Glu694Lys) rs773007418 0.00004
NM_025114.4(CEP290):c.3758G>A (p.Arg1253His) rs763801479 0.00004
NM_025265.4(TSEN2):c.472G>A (p.Val158Ile) rs763286358 0.00004
NM_030662.4(MAP2K2):c.841C>T (p.Arg281Trp) rs759998177 0.00004
NM_030777.4(SLC2A10):c.115G>A (p.Asp39Asn) rs367623970 0.00004
NM_031885.5(BBS2):c.1207C>T (p.Arg403Cys) rs766873519 0.00004
NM_031885.5(BBS2):c.1885G>A (p.Glu629Lys) rs746505864 0.00004
NM_032043.3(BRIP1):c.1000G>A (p.Ala334Thr) rs535414791 0.00004
NM_032043.3(BRIP1):c.1090A>T (p.Ile364Phe) rs770306753 0.00004
NM_032043.3(BRIP1):c.1207C>T (p.Arg403Trp) rs369631413 0.00004
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys) rs146031731 0.00004
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp) rs578022079 0.00004
NM_032043.3(BRIP1):c.3104G>A (p.Arg1035His) rs367816363 0.00004
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala) rs372799558 0.00004
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala) rs202072866 0.00004
NM_032043.3(BRIP1):c.590C>T (p.Ser197Phe) rs533184563 0.00004
NM_032119.4(ADGRV1):c.12335T>G (p.Leu4112Trp) rs550815037 0.00004
NM_032121.5(MAGT1):c.31T>G (p.Phe11Val) rs913458526 0.00004
NM_032444.4(SLX4):c.800C>T (p.Ala267Val) rs752160984 0.00004
NM_032634.4(PIGO):c.365G>A (p.Arg122Gln) rs756043994 0.00004
NM_033056.4(PCDH15):c.4864del (p.Ser1622fs) rs1393195833 0.00004
NM_033380.3(COL4A5):c.4003C>T (p.Pro1335Ser) rs757653472 0.00004
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005 0.00004
NM_053025.4(MYLK):c.1570G>A (p.Ala524Thr) rs375501508 0.00004
NM_053025.4(MYLK):c.2132C>T (p.Thr711Met) rs531232445 0.00004
NM_053025.4(MYLK):c.2391-16C>T rs780727874 0.00004
NM_053025.4(MYLK):c.4303G>A (p.Val1435Met) rs375433770 0.00004
NM_053025.4(MYLK):c.695C>T (p.Thr232Met) rs55935214 0.00004
NM_058216.3(RAD51C):c.635G>A (p.Arg212His) rs200857129 0.00004
NM_058216.3(RAD51C):c.721G>A (p.Val241Met) rs184033132 0.00004
NM_058216.3(RAD51C):c.956G>A (p.Arg319Gln) rs367846829 0.00004
NM_130797.4(DPP6):c.1820C>T (p.Pro607Leu) rs760754791 0.00004
NM_133379.5(TTN):c.16516G>T (p.Glu5506Ter) rs148430495 0.00004
NM_133459.4(CCBE1):c.916-2A>G rs367990953 0.00004
NM_138694.4(PKHD1):c.2280-10C>T rs749295454 0.00004
NM_138694.4(PKHD1):c.3433G>A (p.Val1145Ile) rs147035447 0.00004
NM_139076.3(ABRAXAS1):c.580G>T (p.Ala194Ser) rs1020540603 0.00004
NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg) rs369209552 0.00004
NM_144670.6(A2ML1):c.1081-2A>G rs377270924 0.00004
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser) rs758716034 0.00004
NM_144670.6(A2ML1):c.1774C>T (p.Arg592Trp) rs748309907 0.00004
NM_144670.6(A2ML1):c.375G>T (p.Gln125His) rs377484849 0.00004
NM_144991.3(TSPEAR):c.1819G>A (p.Asp607Asn) rs587622341 0.00004
NM_145239.3(PRRT2):c.304G>A (p.Glu102Lys) rs748419907 0.00004
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His) rs145179304 0.00004
NM_152443.3(RDH12):c.284G>A (p.Arg95Gln) rs765914942 0.00004
NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys) rs768954477 0.00004
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.467G>A (p.Arg156His) rs764475194 0.00004
NM_172107.4(KCNQ2):c.2315C>T (p.Pro772Leu) rs774206764 0.00004
NM_172201.2(KCNE2):c.229C>T (p.Arg77Trp) rs141423405 0.00004
NM_173076.3(ABCA12):c.6305A>T (p.Tyr2102Phe) rs770806176 0.00004
NM_174934.4(SCN4B):c.463+3A>T rs751139039 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.1863+1G>A rs765335983 0.00004
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp) rs193922477 0.00004
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln) rs371124358 0.00004
NM_181458.4(PAX3):c.874G>A (p.Gly292Arg) rs142651003 0.00004
NM_181552.4(CUX1):c.358G>A (p.Glu120Lys) rs1042943750 0.00004
NM_182914.3(SYNE2):c.11108A>G (p.Glu3703Gly) rs763363520 0.00004
NM_182914.3(SYNE2):c.11665G>A (p.Ala3889Thr) rs759802358 0.00004
NM_182943.3(PLOD2):c.1138C>T (p.Arg380Cys) rs376005437 0.00004
NM_182943.3(PLOD2):c.1280A>G (p.Asn427Ser) rs893004444 0.00004
NM_182961.4(SYNE1):c.4075A>G (p.Thr1359Ala) rs377718960 0.00004
NM_183050.4(BCKDHB):c.727C>T (p.Leu243Phe) rs398124591 0.00004
NM_199242.3(UNC13D):c.335G>C (p.Cys112Ser) rs141540493 0.00004
NM_199242.3(UNC13D):c.5C>T (p.Ala2Val) rs752295384 0.00004
NM_201548.5(CERKL):c.950G>A (p.Arg317His) rs150587104 0.00004
NM_203446.3(SYNJ1):c.1744A>G (p.Thr582Ala) rs370817503 0.00004
NM_206933.4(USH2A):c.10807G>A (p.Ala3603Thr) rs539580993 0.00004
NM_206933.4(USH2A):c.10931C>T (p.Thr3644Met) rs185823130 0.00004
NM_206933.4(USH2A):c.14570G>C (p.Gly4857Ala) rs749889050 0.00004
NM_206933.4(USH2A):c.5698T>G (p.Cys1900Gly) rs201026468 0.00004
NM_207346.3(TSEN54):c.1430+4C>T rs202109896 0.00004
NM_000017.4(ACADS):c.1156C>T (p.Arg386Cys) rs537072819 0.00003
NM_000017.4(ACADS):c.991G>A (p.Ala331Thr) rs1267288663 0.00003
NM_000018.4(ACADVL):c.1931G>A (p.Arg644Gln) rs774762384 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_000022.4(ADA):c.945G>A (p.Met315Ile) rs889823379 0.00003
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly) rs1224689084 0.00003
NM_000038.6(APC):c.1241G>A (p.Arg414His) rs730881233 0.00003
NM_000038.6(APC):c.1495C>G (p.Arg499Gly) rs137854580 0.00003
NM_000038.6(APC):c.2090C>T (p.Ala697Val) rs761733547 0.00003
NM_000038.6(APC):c.3299C>T (p.Ser1100Phe) rs863224541 0.00003
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) rs369834416 0.00003
NM_000038.6(APC):c.379A>G (p.Ser127Gly) rs200089324 0.00003
NM_000038.6(APC):c.4016G>A (p.Gly1339Asp) rs781621926 0.00003
NM_000038.6(APC):c.5179T>C (p.Cys1727Arg) rs758815860 0.00003
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) rs587779799 0.00003
NM_000038.6(APC):c.647G>A (p.Arg216Gln) rs76685252 0.00003
NM_000038.6(APC):c.7174C>A (p.Pro2392Thr) rs730881257 0.00003
NM_000038.6(APC):c.757G>A (p.Gly253Ser) rs772806807 0.00003
NM_000038.6(APC):c.8273A>G (p.Glu2758Gly) rs371616945 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000044.6(AR):c.2659A>G (p.Met887Val) rs755226547 0.00003
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1608-3T>C rs774196176 0.00003
NM_000051.4(ATM):c.1943T>C (p.Val648Ala) rs141175037 0.00003
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro) rs768874297 0.00003
NM_000051.4(ATM):c.2354G>A (p.Arg785His) rs587782128 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr) rs778123895 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.275A>C (p.Lys92Thr) rs200151849 0.00003
NM_000051.4(ATM):c.2942G>A (p.Arg981His) rs755896387 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln) rs377349886 0.00003
NM_000051.4(ATM):c.379A>T (p.Thr127Ser) rs587781741 0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg) rs752559455 0.00003
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr) rs786201215 0.00003
NM_000051.4(ATM):c.5005+7T>C rs527286038 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp) rs730881311 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.8152-6C>T rs200389039 0.00003
NM_000053.4(ATP7B):c.2391_2393del (p.Leu798del) rs772383075 0.00003
NM_000053.4(ATP7B):c.3106G>A (p.Val1036Ile) rs761147984 0.00003
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563 0.00003
NM_000057.4(BLM):c.4112C>T (p.Thr1371Met) rs587779891 0.00003
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr) rs80358396 0.00003
NM_000059.4(BRCA2):c.11G>C (p.Gly4Ala) rs587782137 0.00003
NM_000059.4(BRCA2):c.1216G>A (p.Ala406Thr) rs751535164 0.00003
NM_000059.4(BRCA2):c.1219C>G (p.Gln407Glu) rs781079248 0.00003
NM_000059.4(BRCA2):c.1838T>G (p.Leu613Arg) rs587780646 0.00003
NM_000059.4(BRCA2):c.2593G>C (p.Glu865Gln) rs587782014 0.00003
NM_000059.4(BRCA2):c.3329A>T (p.Glu1110Val) rs587782072 0.00003
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723 0.00003
NM_000059.4(BRCA2):c.4357A>G (p.Lys1453Glu) rs397507330 0.00003
NM_000059.4(BRCA2):c.4527A>C (p.Gln1509His) rs56283738 0.00003
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn) rs587782714 0.00003
NM_000059.4(BRCA2):c.5632A>G (p.Asn1878Asp) rs397507358 0.00003
NM_000059.4(BRCA2):c.663T>G (p.Phe221Leu) rs80358891 0.00003
NM_000059.4(BRCA2):c.6827C>A (p.Pro2276His) rs748541466 0.00003
NM_000059.4(BRCA2):c.6842-14A>G rs81002821 0.00003
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val) rs80359162 0.00003
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194 0.00003
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000070.3(CAPN3):c.2417T>G (p.Ile806Ser) rs753854306 0.00003
NM_000070.3(CAPN3):c.440G>A (p.Arg147Gln) rs139671324 0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu) rs863223434 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000071.3(CBS):c.415G>A (p.Gly139Arg) rs121964965 0.00003
NM_000075.4(CDK4):c.254G>A (p.Arg85Gln) rs587778184 0.00003
NM_000077.5(CDKN2A):c.206A>G (p.Glu69Gly) rs372670098 0.00003
NM_000077.5(CDKN2A):c.25A>T (p.Met9Leu) rs748866274 0.00003
NM_000083.3(CLCN1):c.2437C>A (p.Pro813Thr) rs139881658 0.00003
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys) rs1206388800 0.00003
NM_000090.4(COL3A1):c.1816-4T>C rs765128089 0.00003
NM_000090.4(COL3A1):c.2038C>T (p.Pro680Ser) rs372027308 0.00003
NM_000090.4(COL3A1):c.2125G>T (p.Ala709Ser) rs201468881 0.00003
NM_000096.4(CP):c.1049C>A (p.Ala350Asp) rs386134127 0.00003
NM_000110.4(DPYD):c.1796T>C (p.Met599Thr) rs147601618 0.00003
NM_000110.4(DPYD):c.2378C>T (p.Thr793Ile) rs547099198 0.00003
NM_000110.4(DPYD):c.2657G>A (p.Arg886His) rs1801267 0.00003
NM_000112.4(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504 0.00003
NM_000124.4(ERCC6):c.4015T>C (p.Phe1339Leu) rs116715649 0.00003
NM_000132.4(F8):c.2852C>G (p.Ser951Cys) rs138183956 0.00003
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln) rs781876217 0.00003
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg) rs768676657 0.00003
NM_000138.5(FBN1):c.3389A>G (p.His1130Arg) rs747189975 0.00003
NM_000138.5(FBN1):c.3455C>T (p.Ala1152Val) rs539103389 0.00003
NM_000138.5(FBN1):c.5066-7C>G rs377369765 0.00003
NM_000138.5(FBN1):c.6314-16A>G rs759468929 0.00003
NM_000138.5(FBN1):c.6623A>G (p.Asn2208Ser) rs146063839 0.00003
NM_000138.5(FBN1):c.6819G>A (p.Met2273Ile) rs778027769 0.00003
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met) rs773785908 0.00003
NM_000138.5(FBN1):c.7451A>G (p.Lys2484Arg) rs374630707 0.00003
NM_000138.5(FBN1):c.8224G>A (p.Glu2742Lys) rs750199580 0.00003
NM_000141.5(FGFR2):c.2195+7G>A rs377397478 0.00003
NM_000152.5(GAA):c.1437+8G>A rs779194427 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.503G>A (p.Arg168Gln) rs376685205 0.00003
NM_000153.4(GALC):c.2035T>C (p.Phe679Leu) rs779202612 0.00003
NM_000154.2(GALK1):c.552C>G (p.Ile184Met) rs773416476 0.00003
NM_000155.4(GALT):c.200G>A (p.Arg67His) rs758430398 0.00003
NM_000155.4(GALT):c.640G>A (p.Gly214Arg) rs1413579895 0.00003
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) rs759514960 0.00003
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000179.3(MSH6):c.-2G>T rs374748889 0.00003
NM_000179.3(MSH6):c.-6G>C rs730881822 0.00003
NM_000179.3(MSH6):c.1120_1122del (p.Lys374del) rs587781660 0.00003
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val) rs201613780 0.00003
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser) rs868760377 0.00003
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys) rs143517321 0.00003
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr) rs587779926 0.00003
NM_000179.3(MSH6):c.3173-10C>T rs587780559 0.00003
NM_000179.3(MSH6):c.3197A>G (p.Tyr1066Cys) rs372103816 0.00003
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His) rs63750253 0.00003
NM_000179.3(MSH6):c.3772C>G (p.Gln1258Glu) rs63750554 0.00003
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys) rs367912290 0.00003
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr) rs148445930 0.00003
NM_000179.3(MSH6):c.3930G>C (p.Glu1310Asp) rs267608129 0.00003
NM_000179.3(MSH6):c.3974A>G (p.Lys1325Arg) rs876658189 0.00003
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys) rs730881813 0.00003
NM_000179.3(MSH6):c.719G>A (p.Arg240Gln) rs542848931 0.00003
NM_000182.5(HADHA):c.1391C>T (p.Ala464Val) rs147409050 0.00003
NM_000188.3(HK1):c.2381G>A (p.Arg794Gln) rs780518562 0.00003
NM_000199.5(SGSH):c.391G>A (p.Val131Met) rs370636303 0.00003
NM_000204.5(CFI):c.1071T>G (p.Ile357Met) rs200881135 0.00003
NM_000214.3(JAG1):c.3289C>T (p.Arg1097Trp) rs768554175 0.00003
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000228.3(LAMB3):c.2036C>T (p.Pro679Leu) rs201223111 0.00003
NM_000232.5(SGCB):c.191T>C (p.Leu64Ser) rs747795143 0.00003
NM_000237.3(LPL):c.190G>A (p.Val64Met) rs114101772 0.00003
NM_000238.4(KCNH2):c.2792C>T (p.Pro931Leu) rs749759697 0.00003
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011 0.00003
NM_000238.4(KCNH2):c.3094C>T (p.Arg1032Trp) rs373394254 0.00003
NM_000243.3(MEFV):c.1886dup (p.Pro630fs) rs876660997 0.00003
NM_000243.3(MEFV):c.2123G>A (p.Arg708His) rs200375017 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000243.3(MEFV):c.539C>T (p.Pro180Leu) rs104895134 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.1562T>A (p.Leu521His) rs1258738224 0.00003
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu) rs56185292 0.00003
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln) rs63749900 0.00003
NM_000249.4(MLH1):c.453+20G>T rs759417195 0.00003
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys) rs550914672 0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys) rs752373431 0.00003
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys) rs63751412 0.00003
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala) rs730881756 0.00003
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln) rs56170584 0.00003
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly) rs370330868 0.00003
NM_000251.3(MSH2):c.211+8C>T rs267607916 0.00003
NM_000251.3(MSH2):c.2211-5T>G rs368596736 0.00003
NM_000251.3(MSH2):c.2458+8C>G rs189025757 0.00003
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr) rs747700106 0.00003
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp) rs587781453 0.00003
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys) rs587779969 0.00003
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp) rs767747378 0.00003
NM_000251.3(MSH2):c.835C>G (p.Leu279Val) rs375351205 0.00003
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp) rs267607938 0.00003
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu) rs1269517446 0.00003
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln) rs727504346 0.00003
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys) rs397516069 0.00003
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser) rs760218400 0.00003
NM_000258.3(MYL3):c.245C>T (p.Ala82Val) rs752549068 0.00003
NM_000260.4(MYO7A):c.218T>C (p.Leu73Pro) rs372188355 0.00003
NM_000260.4(MYO7A):c.2683C>T (p.Arg895Cys) rs781916427 0.00003
NM_000271.5(NPC1):c.3689T>C (p.Leu1230Ser) rs374150662 0.00003
NM_000275.3(OCA2):c.1048G>A (p.Val350Met) rs533478642 0.00003
NM_000276.4(OCRL):c.40A>G (p.Thr14Ala) rs371099243 0.00003
NM_000277.3(PAH):c.157C>T (p.Arg53Cys) rs199475619 0.00003
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520 0.00003
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys) rs774738181 0.00003
NM_000292.3(PHKA2):c.200G>A (p.Arg67His) rs768524028 0.00003
NM_000302.4(PLOD1):c.1772G>A (p.Gly591Asp) rs748646169 0.00003
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu) rs557317492 0.00003
NM_000303.3(PMM2):c.200T>G (p.Val67Gly) rs751986971 0.00003
NM_000311.5(PRNP):c.565G>A (p.Val189Ile) rs1178466848 0.00003
NM_000314.8(PTEN):c.-799G>C rs587779992 0.00003
NM_000334.4(SCN4A):c.4540G>A (p.Asp1514Asn) rs374278037 0.00003
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln) rs769292594 0.00003
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405 0.00003
NM_000335.5(SCN5A):c.482+10T>G rs762598150 0.00003
NM_000335.5(SCN5A):c.5371G>A (p.Asp1791Asn) rs727504495 0.00003
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys) rs199473328 0.00003
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000350.3(ABCA4):c.2147C>T (p.Thr716Met) rs61749426 0.00003
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00003
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln) rs1420601296 0.00003
NM_000359.3(TGM1):c.248G>A (p.Arg83Gln) rs771051927 0.00003
NM_000371.4(TTR):c.370C>T (p.Arg124Cys) rs745834030 0.00003
NM_000381.4(MID1):c.1888G>A (p.Asp630Asn) rs150291968 0.00003
NM_000383.4(AIRE):c.1031C>T (p.Thr344Ile) rs929430876 0.00003
NM_000384.3(APOB):c.10541C>T (p.Ala3514Val) rs1450324476 0.00003
NM_000388.4(CASR):c.1327C>A (p.Leu443Ile) rs267599574 0.00003
NM_000388.4(CASR):c.566A>G (p.Asn189Ser) rs762998933 0.00003
NM_000393.5(COL5A2):c.1005+3A>G rs375809563 0.00003
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu) rs189320512 0.00003
NM_000404.4(GLB1):c.734-8A>G rs398123357 0.00003
NM_000414.4(HSD17B4):c.1628G>A (p.Arg543His) rs201009485 0.00003
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His) rs748057401 0.00003
NM_000426.4(LAMA2):c.4717+4C>T rs200898063 0.00003
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser) rs1037196284 0.00003
NM_000443.4(ABCB4):c.857C>T (p.Ala286Val) rs765478923 0.00003
NM_000444.6(PHEX):c.598A>G (p.Asn200Asp) rs1293482406 0.00003
NM_000448.3(RAG1):c.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000455.5(STK11):c.1193C>T (p.Ala398Val) rs768058962 0.00003
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg) rs878853996 0.00003
NM_000465.4(BARD1):c.1724G>A (p.Ser575Asn) rs774352844 0.00003
NM_000465.4(BARD1):c.1904-5G>A rs376639978 0.00003
NM_000465.4(BARD1):c.212G>T (p.Cys71Phe) rs1064793959 0.00003
NM_000465.4(BARD1):c.2137G>A (p.Val713Met) rs546077003 0.00003
NM_000465.4(BARD1):c.266C>T (p.Pro89Leu) rs780241203 0.00003
NM_000465.4(BARD1):c.568G>A (p.Asp190Asn) rs369561166 0.00003
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586 0.00003
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu) rs748155731 0.00003
NM_000492.4(CFTR):c.1247A>G (p.Asn416Ser) rs777850419 0.00003
NM_000492.4(CFTR):c.1253A>G (p.Asn418Ser) rs397508185 0.00003
NM_000492.4(CFTR):c.1429C>T (p.Pro477Ser) rs139054556 0.00003
NM_000492.4(CFTR):c.1450C>T (p.His484Tyr) rs397508210 0.00003
NM_000492.4(CFTR):c.1630G>A (p.Gly544Ser) rs762224063 0.00003
NM_000492.4(CFTR):c.1766G>C (p.Ser589Thr) rs397508300 0.00003
NM_000492.4(CFTR):c.1951G>A (p.Asp651Asn) rs780526529 0.00003
NM_000492.4(CFTR):c.204A>T (p.Lys68Asn) rs397508335 0.00003
NM_000492.4(CFTR):c.2374C>G (p.Arg792Gly) rs145449046 0.00003
NM_000492.4(CFTR):c.2392C>T (p.Pro798Ser) rs138069616 0.00003
NM_000492.4(CFTR):c.2476G>A (p.Glu826Lys) rs397508381 0.00003
NM_000492.4(CFTR):c.250T>C (p.Tyr84His) rs745756794 0.00003
NM_000492.4(CFTR):c.2540A>G (p.Asn847Ser) rs562851847 0.00003
NM_000492.4(CFTR):c.2758G>A (p.Val920Met) rs373885282 0.00003
NM_000492.4(CFTR):c.2836A>G (p.Lys946Glu) rs397508443 0.00003
NM_000492.4(CFTR):c.2895C>A (p.Asn965Lys) rs779569793 0.00003
NM_000492.4(CFTR):c.2982C>A (p.Phe994Leu) rs373561883 0.00003
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.3128T>A (p.Leu1043Gln) rs1026006397 0.00003
NM_000492.4(CFTR):c.3473G>A (p.Arg1158Gln) rs763401376 0.00003
NM_000492.4(CFTR):c.365A>G (p.Tyr122Cys) rs377295859 0.00003
NM_000492.4(CFTR):c.3877G>A (p.Val1293Ile) rs769931559 0.00003
NM_000492.4(CFTR):c.4003C>T (p.Leu1335Phe) rs145545286 0.00003
NM_000492.4(CFTR):c.4031G>C (p.Cys1344Ser) rs368427311 0.00003
NM_000492.4(CFTR):c.4091C>T (p.Ala1364Val) rs397508670 0.00003
NM_000492.4(CFTR):c.489+8T>G rs727504712 0.00003
NM_000492.4(CFTR):c.561C>A (p.Asn187Lys) rs397508754 0.00003
NM_000492.4(CFTR):c.610G>A (p.Ala204Thr) rs748026786 0.00003
NM_000492.4(CFTR):c.674G>A (p.Cys225Tyr) rs866473559 0.00003
NM_000492.4(CFTR):c.697C>G (p.Leu233Val) rs775713428 0.00003
NM_000492.4(CFTR):c.837A>T (p.Glu279Asp) rs773509355 0.00003
NM_000501.4(ELN):c.1168G>A (p.Gly390Arg) rs372889752 0.00003
NM_000512.5(GALNS):c.269G>A (p.Arg90Gln) rs754731091 0.00003
NM_000518.4(HBB):c.404T>C (p.Val135Ala) rs33966761 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.316-28G>A rs771736852 0.00003
NM_000518.5(HBB):c.316-7C>A rs34483965 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys) rs1227959449 0.00003
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111 0.00003
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00003
NM_000527.5(LDLR):c.2510A>G (p.His837Arg) rs150631538 0.00003
NM_000528.4(MAN2B1):c.1230+5G>T rs1398531876 0.00003
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val) rs967834240 0.00003
NM_000528.4(MAN2B1):c.2355+6T>A rs1052970162 0.00003
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345 0.00003
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686 0.00003
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser) rs758018736 0.00003
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser) rs63750534 0.00003
NM_000535.7(PMS2):c.1837A>C (p.Lys613Gln) rs63751230 0.00003
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe) rs748927376 0.00003
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 0.00003
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913 0.00003
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894 0.00003
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779 0.00003
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_000543.5(SMPD1):c.730G>A (p.Gly244Arg) rs120074122 0.00003
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys) rs371544082 0.00003
NM_000546.6(TP53):c.329G>A (p.Arg110His) rs11540654 0.00003
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413 0.00003
NM_000548.5(TSC2):c.4901G>A (p.Arg1634His) rs201694466 0.00003
NM_000552.5(VWF):c.2435C>T (p.Pro812Leu) rs62643631 0.00003
NM_000552.5(VWF):c.5311G>A (p.Gly1771Arg) rs370016586 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000720.4(CACNA1D):c.1502C>T (p.Ala501Val) rs748425556 0.00003
NM_000744.7(CHRNA4):c.442C>T (p.Arg148Trp) rs121912243 0.00003
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val) rs1364383591 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001008216.2(GALE):c.652G>A (p.Gly218Arg) rs747453873 0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn) rs773329559 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001018005.2(TPM1):c.563+16G>A rs375227208 0.00003
NM_001018005.2(TPM1):c.563+347C>T rs759081217 0.00003
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn) rs768711283 0.00003
NM_001035.3(RYR2):c.13327G>A (p.Glu4443Lys) rs1409192667 0.00003
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln) rs370568809 0.00003
NM_001036.6(RYR3):c.7802A>G (p.Lys2601Arg) rs754866375 0.00003
NM_001039591.3(USP9X):c.5875A>G (p.Ile1959Val) rs748796919 0.00003
NM_001042432.2(CLN3):c.206C>T (p.Ser69Leu) rs769840061 0.00003
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser) rs753189381 0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299 0.00003
NM_001044385.3(TMEM237):c.1A>G (p.Met1Val) rs957203033 0.00003
NM_001048174.2(MUTYH):c.1007G>A (p.Arg336His) rs587780741 0.00003
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln) rs587780081 0.00003
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln) rs587782683 0.00003
NM_001048174.2(MUTYH):c.356A>G (p.Asn119Ser) rs771641237 0.00003
NM_001048174.2(MUTYH):c.953C>T (p.Ser318Leu) rs587778538 0.00003
NM_001048174.2(MUTYH):c.991C>A (p.Pro331Thr) rs587782773 0.00003
NM_001077365.2(POMT1):c.1963C>T (p.Leu655Phe) rs547373832 0.00003
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001079802.2(FKTN):c.703C>A (p.Pro235Thr) rs373418195 0.00003
NM_001083116.3(PRF1):c.112G>A (p.Val38Met) rs201909472 0.00003
NM_001085049.3(MRAS):c.500C>G (p.Ala167Gly) rs762347485 0.00003
NM_001101362.3(KBTBD13):c.230A>G (p.Glu77Gly) rs1384295949 0.00003
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His) rs546431200 0.00003
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr) rs770368711 0.00003
NM_001110219.3(GJB6):c.322C>T (p.Arg108Ter) rs772862268 0.00003
NM_001110556.2(FLNA):c.3224C>T (p.Pro1075Leu) rs782406278 0.00003
NM_001110556.2(FLNA):c.3523G>A (p.Ala1175Thr) rs370202395 0.00003
NM_001110556.2(FLNA):c.3695C>T (p.Thr1232Ile) rs782495669 0.00003
NM_001110556.2(FLNA):c.4625C>T (p.Thr1542Ile) rs782281134 0.00003
NM_001110556.2(FLNA):c.7846G>A (p.Val2616Met) rs369791082 0.00003
NM_001110556.2(FLNA):c.806T>A (p.Leu269Gln) rs782157170 0.00003
NM_001110792.2(MECP2):c.569C>G (p.Ser190Cys) rs782314807 0.00003
NM_001110792.2(MECP2):c.641C>G (p.Ala214Gly) rs587783138 0.00003
NM_001111125.3(IQSEC2):c.4050C>A (p.His1350Gln) rs1449945045 0.00003
NM_001114753.3(ENG):c.690-5C>T rs374628465 0.00003
NM_001122769.3(LCA5):c.401A>C (p.Lys134Thr) rs200395970 0.00003
NM_001126049.2(KLLN):c.-803T>A rs587782616 0.00003
NM_001127178.3(PIGG):c.956C>T (p.Ala319Val) rs779032464 0.00003
NM_001127222.2(CACNA1A):c.35A>G (p.Tyr12Cys) rs994265107 0.00003
NM_001127222.2(CACNA1A):c.6193G>A (p.Val2065Met) rs776203885 0.00003
NM_001130987.2(DYSF):c.2744C>T (p.Thr915Met) rs769739410 0.00003
NM_001130987.2(DYSF):c.3170G>A (p.Arg1057Gln) rs149617331 0.00003
NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu) rs766153322 0.00003
NM_001142800.2(EYS):c.7810C>T (p.Arg2604Cys) rs1015857165 0.00003
NM_001145809.2(MYH14):c.1631C>T (p.Pro544Leu) rs371300947 0.00003
NM_001145809.2(MYH14):c.488G>A (p.Arg163Gln) rs558956312 0.00003
NM_001148.6(ANK2):c.3572G>A (p.Arg1191Gln) rs780110299 0.00003
NM_001148.6(ANK2):c.4912A>G (p.Asn1638Asp) rs748573794 0.00003
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala) rs769091762 0.00003
NM_001160372.4(TRAPPC9):c.805C>T (p.Arg269Trp) rs779077167 0.00003
NM_001164508.2(NEB):c.19101+4C>T rs778716460 0.00003
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu) rs149225252 0.00003
NM_001174089.2(SLC4A11):c.2213C>T (p.Thr738Met) rs267607066 0.00003
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser) rs758972393 0.00003
NM_001232.4(CASQ2):c.234+3A>G rs727502909 0.00003
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys) rs373227317 0.00003
NM_001267550.2(TTN):c.102105T>A (p.Asp34035Glu) rs370647845 0.00003
NM_001267550.2(TTN):c.104027C>G (p.Thr34676Arg) rs761644963 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.106489T>G (p.Ser35497Ala) rs369870182 0.00003
NM_001267550.2(TTN):c.14093-4G>A rs373530196 0.00003
NM_001267550.2(TTN):c.15196A>G (p.Ser5066Gly) rs756793304 0.00003
NM_001267550.2(TTN):c.16160G>C (p.Arg5387Thr) rs748155563 0.00003
NM_001267550.2(TTN):c.19715-1G>A rs767658044 0.00003
NM_001267550.2(TTN):c.21163G>T (p.Gly7055Trp) rs375219301 0.00003
NM_001267550.2(TTN):c.23295A>C (p.Glu7765Asp) rs774259283 0.00003
NM_001267550.2(TTN):c.25829A>G (p.His8610Arg) rs561059250 0.00003
NM_001267550.2(TTN):c.26380T>G (p.Leu8794Val) rs372229450 0.00003
NM_001267550.2(TTN):c.26C>T (p.Thr9Met) rs146123323 0.00003
NM_001267550.2(TTN):c.27676T>C (p.Cys9226Arg) rs372820178 0.00003
NM_001267550.2(TTN):c.27928G>A (p.Val9310Ile) rs200207722 0.00003
NM_001267550.2(TTN):c.31594G>A (p.Val10532Ile) rs763955552 0.00003
NM_001267550.2(TTN):c.31735A>C (p.Lys10579Gln) rs376287951 0.00003
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys) rs376117402 0.00003
NM_001267550.2(TTN):c.35357C>G (p.Pro11786Arg) rs375057451 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.41098G>A (p.Val13700Ile) rs748716483 0.00003
NM_001267550.2(TTN):c.41932G>A (p.Glu13978Lys) rs746667196 0.00003
NM_001267550.2(TTN):c.44916T>A (p.Val14972=) rs373390402 0.00003
NM_001267550.2(TTN):c.47978C>A (p.Thr15993Asn) rs727503622 0.00003
NM_001267550.2(TTN):c.48118C>T (p.Arg16040Cys) rs774736458 0.00003
NM_001267550.2(TTN):c.48461-18C>G rs759697221 0.00003
NM_001267550.2(TTN):c.48853A>C (p.Lys16285Gln) rs780017546 0.00003
NM_001267550.2(TTN):c.49235C>G (p.Ala16412Gly) rs746659077 0.00003
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln) rs72677250 0.00003
NM_001267550.2(TTN):c.57826C>T (p.Leu19276Phe) rs756493505 0.00003
NM_001267550.2(TTN):c.61447C>T (p.Arg20483Cys) rs770139489 0.00003
NM_001267550.2(TTN):c.65276-16C>T rs370634364 0.00003
NM_001267550.2(TTN):c.73213G>A (p.Glu24405Lys) rs764485436 0.00003
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg) rs747593205 0.00003
NM_001267550.2(TTN):c.76088G>A (p.Arg25363His) rs749274818 0.00003
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly) rs759278736 0.00003
NM_001267550.2(TTN):c.7975C>G (p.Leu2659Val) rs747894424 0.00003
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val) rs371498697 0.00003
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg) rs769162510 0.00003
NM_001267550.2(TTN):c.8902+1G>A rs770392096 0.00003
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met) rs756769026 0.00003
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr) rs727505175 0.00003
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met) rs727503543 0.00003
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) rs150930737 0.00003
NM_001267550.2(TTN):c.96008T>C (p.Ile32003Thr) rs745962752 0.00003
NM_001267550.2(TTN):c.98252T>C (p.Ile32751Thr) rs746586029 0.00003
NM_001267550.2(TTN):c.98524G>A (p.Ala32842Thr) rs199647622 0.00003
NM_001267550.2(TTN):c.99518G>A (p.Cys33173Tyr) rs761362832 0.00003
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala) rs576759867 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001278116.2(L1CAM):c.3322+11G>A rs1372534909 0.00003
NM_001282531.3(ADNP):c.2849A>G (p.His950Arg) rs1282824691 0.00003
NM_001291303.3(FAT4):c.10940A>G (p.Asp3647Gly) rs780015426 0.00003
NM_001365536.1(SCN9A):c.4629G>A (p.Met1543Ile) rs200328637 0.00003
NM_001365999.1(SZT2):c.3466G>A (p.Gly1156Arg) rs370691670 0.00003
NM_001365999.1(SZT2):c.4166+4A>G rs184298720 0.00003
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val) rs1050035768 0.00003
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717 0.00003
NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg) rs758727391 0.00003
NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys) rs755441612 0.00003
NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys) rs371214841 0.00003
NM_001378120.1(MBD5):c.1135A>G (p.Thr379Ala) rs959566693 0.00003
NM_001378452.1(ITPR1):c.7272+15T>A rs777868994 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) rs754439156 0.00003
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro) rs201451396 0.00003
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala) rs763680884 0.00003
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459 0.00003
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00003
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378964.1(CDON):c.1741A>G (p.Ile581Val) rs141782811 0.00003
NM_001379200.1(TBX1):c.164C>T (p.Pro55Leu) rs1464455403 0.00003
NM_001379500.1(COL18A1):c.1221+12C>T rs765348415 0.00003
NM_001382430.1(AKT1):c.362G>A (p.Arg121Gln) rs1457484217 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_001384474.1(LOXHD1):c.6071C>T (p.Thr2024Met) rs369043488 0.00003
NM_001384474.1(LOXHD1):c.723C>A (p.Asn241Lys) rs1364819556 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_001386795.1(DTNA):c.68-7G>A rs372126412 0.00003
NM_001457.4(FLNB):c.3792C>A (p.Asp1264Glu) rs200622119 0.00003
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met) rs1175931652 0.00003
NM_001556.3(IKBKB):c.2114+3A>G rs56329631 0.00003
NM_001613.4(ACTA2):c.977C>A (p.Thr326Asn) rs777832794 0.00003
NM_001673.5(ASNS):c.1570C>T (p.Arg524Cys) rs373078034 0.00003
NM_001848.3(COL6A1):c.665G>A (p.Arg222His) rs780638665 0.00003
NM_001927.4(DES):c.-6G>A rs774967446 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_001985.3(ETFB):c.232G>A (p.Ala78Thr) rs548046212 0.00003
NM_002047.4(GARS1):c.52C>A (p.Leu18Met) rs368574634 0.00003
NM_002109.6(HARS1):c.797G>A (p.Arg266His) rs765223763 0.00003
NM_002156.5(HSPD1):c.385G>A (p.Glu129Lys) rs139436185 0.00003
NM_002185.5(IL7R):c.706+3A>G rs200036151 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.1996G>A (p.Val666Met) rs372369061 0.00003
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg) rs772216708 0.00003
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser) rs753891816 0.00003
NM_002474.3(MYH11):c.2237C>G (p.Ala746Gly) rs778651094 0.00003
NM_002474.3(MYH11):c.2659G>A (p.Glu887Lys) rs201387564 0.00003
NM_002485.5(NBN):c.2226T>A (p.Asp742Glu) rs767523514 0.00003
NM_002485.5(NBN):c.284A>G (p.Asp95Gly) rs545276922 0.00003
NM_002633.3(PGM1):c.318C>G (p.Ile106Met) rs781551165 0.00003
NM_002693.3(POLG):c.2977C>T (p.Arg993Cys) rs551811489 0.00003
NM_002693.3(POLG):c.3383G>A (p.Arg1128His) rs1405268319 0.00003
NM_002734.5(PRKAR1A):c.756A>C (p.Lys252Asn) rs1242606073 0.00003
NM_002755.4(MAP2K1):c.901G>A (p.Gly301Arg) rs773890369 0.00003
NM_002769.5(PRSS1):c.200+10G>T rs200217253 0.00003
NM_002769.5(PRSS1):c.200+18G>A rs778658500 0.00003
NM_002778.4(PSAP):c.565C>T (p.Pro189Ser) rs188854022 0.00003
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002878.4(RAD51D):c.208G>A (p.Asp70Asn) rs142189122 0.00003
NM_002878.4(RAD51D):c.481-8C>T rs762247126 0.00003
NM_002878.4(RAD51D):c.53A>G (p.Gln18Arg) rs546225564 0.00003
NM_002878.4(RAD51D):c.878C>T (p.Ala293Val) rs769732230 0.00003
NM_002878.4(RAD51D):c.911G>A (p.Gly304Asp) rs200615280 0.00003
NM_002880.4(RAF1):c.1109-17G>C rs770431112 0.00003
NM_002880.4(RAF1):c.1921A>G (p.Thr641Ala) rs1183812590 0.00003
NM_003042.4(SLC6A1):c.1559C>T (p.Thr520Met) rs372892801 0.00003
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=) rs372085480 0.00003
NM_003239.5(TGFB3):c.797G>A (p.Arg266His) rs142069844 0.00003
NM_003239.5(TGFB3):c.859C>T (p.Arg287Trp) rs757774610 0.00003
NM_003383.5(VLDLR):c.2429T>C (p.Met810Thr) rs561039600 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_003659.4(AGPS):c.1855+6C>A rs772552134 0.00003
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.488T>C (p.Met163Thr) rs1273330603 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser) rs889238270 0.00003
NM_004092.4(ECHS1):c.8C>T (p.Ala3Val) rs372408822 0.00003
NM_004100.5(EYA4):c.824C>G (p.Ala275Gly) rs748654006 0.00003
NM_004260.4(RECQL4):c.962G>A (p.Gly321Glu) rs1220650736 0.00003
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser) rs376832654 0.00003
NM_004329.3(BMPR1A):c.1420G>C (p.Val474Leu) rs567733221 0.00003
NM_004360.5(CDH1):c.1318A>G (p.Lys440Glu) rs778212100 0.00003
NM_004360.5(CDH1):c.2204C>T (p.Ala735Val) rs587782464 0.00003
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys) rs769076258 0.00003
NM_004360.5(CDH1):c.688-4T>C rs781633588 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004415.4(DSP):c.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004453.4(ETFDH):c.1503T>G (p.Asp501Glu) rs752947878 0.00003
NM_004519.4(KCNQ3):c.2443G>T (p.Asp815Tyr) rs530506549 0.00003
NM_004553.6(NDUFS6):c.247C>T (p.Arg83Trp) rs863224110 0.00003
NM_004614.5(TK2):c.124+6G>C rs772063515 0.00003
NM_004646.4(NPHS1):c.2728T>C (p.Ser910Pro) rs143649022 0.00003
NM_004655.4(AXIN2):c.2021C>T (p.Pro674Leu) rs1341498392 0.00003
NM_004990.4(MARS1):c.1945A>G (p.Asn649Asp) rs748955220 0.00003
NM_005045.4(RELN):c.2176T>A (p.Phe726Ile) rs200007424 0.00003
NM_005045.4(RELN):c.4640G>A (p.Arg1547Gln) rs774277969 0.00003
NM_005045.4(RELN):c.7147G>A (p.Ala2383Thr) rs978248682 0.00003
NM_005138.3(SCO2):c.281T>C (p.Leu94Pro) rs138294250 0.00003
NM_005188.4(CBL):c.1484C>T (p.Pro495Leu) rs373989524 0.00003
NM_005334.3(HCFC1):c.4052C>A (p.Pro1351His) rs111385795 0.00003
NM_005359.6(SMAD4):c.956-3T>C rs748283001 0.00003
NM_005502.4(ABCA1):c.302+17G>T rs367919230 0.00003
NM_005502.4(ABCA1):c.6184G>A (p.Gly2062Arg) rs752051518 0.00003
NM_005502.4(ABCA1):c.725C>G (p.Thr242Arg) rs775987152 0.00003
NM_005534.4(IFNGR2):c.436A>G (p.Ile146Val) rs776581325 0.00003
NM_005591.4(MRE11):c.476T>C (p.Val159Ala) rs140130291 0.00003
NM_005664.4(MKRN3):c.1034G>A (p.Arg345His) rs375705600 0.00003
NM_005732.4(RAD50):c.*8C>T rs374990431 0.00003
NM_005732.4(RAD50):c.1970-7A>C rs370034340 0.00003
NM_005732.4(RAD50):c.2718+10T>G rs765764447 0.00003
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg) rs201728859 0.00003
NM_005765.3(ATP6AP2):c.455G>A (p.Arg152His) rs184634552 0.00003
NM_005901.6(SMAD2):c.784+7T>A rs1429670443 0.00003
NM_005902.4(SMAD3):c.1186A>G (p.Ile396Val) rs1317532064 0.00003
NM_005902.4(SMAD3):c.632C>T (p.Pro211Leu) rs772510704 0.00003
NM_006231.4(POLE):c.4091G>A (p.Arg1364His) rs369171111 0.00003
NM_006231.4(POLE):c.4112G>A (p.Arg1371Gln) rs535074635 0.00003
NM_006231.4(POLE):c.5609G>A (p.Arg1870His) rs758619238 0.00003
NM_006261.5(PROP1):c.550G>C (p.Ala184Pro) rs746409513 0.00003
NM_006270.5(RRAS):c.573-4A>C rs901398553 0.00003
NM_006308.3(HSPB3):c.437C>T (p.Pro146Leu) rs376650697 0.00003
NM_006502.3(POLH):c.2009A>G (p.Asn670Ser) rs377690160 0.00003
NM_006662.3(SRCAP):c.391C>G (p.Pro131Ala) rs148079550 0.00003
NM_006662.3(SRCAP):c.7523C>T (p.Pro2508Leu) rs201916514 0.00003
NM_006767.4(LZTR1):c.1591G>A (p.Asp531Asn) rs138615487 0.00003
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_006767.4(LZTR1):c.989G>T (p.Ser330Ile) rs376331457 0.00003
NM_006790.3(MYOT):c.182A>C (p.His61Pro) rs372276337 0.00003
NM_006796.3(AFG3L2):c.292+2T>C rs779805236 0.00003
NM_006912.6(RIT1):c.506A>G (p.Tyr169Cys) rs763208084 0.00003
NM_006915.3(RP2):c.49C>T (p.Pro17Ser) rs782103396 0.00003
NM_006939.4(SOS2):c.1282G>A (p.Asp428Asn) rs146283711 0.00003
NM_006939.4(SOS2):c.1417C>T (p.His473Tyr) rs756637706 0.00003
NM_006939.4(SOS2):c.3497T>C (p.Met1166Thr) rs764483791 0.00003
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys) rs1005498417 0.00003
NM_006949.4(STXBP2):c.1026+3G>A rs759183489 0.00003
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr) rs777489502 0.00003
NM_007103.4(NDUFV1):c.331A>G (p.Lys111Glu) rs369089940 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro) rs587781960 0.00003
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541 0.00003
NM_007194.4(CHEK2):c.1561C>T (p.Arg521Trp) rs533475838 0.00003
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys) rs149501505 0.00003
NM_007194.4(CHEK2):c.953G>A (p.Arg318His) rs143611747 0.00003
NM_007294.4(BRCA1):c.1573G>A (p.Val525Ile) rs80357273 0.00003
NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg) rs373655067 0.00003
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly) rs80357194 0.00003
NM_007294.4(BRCA1):c.2758G>T (p.Val920Leu) rs80357361 0.00003
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919 0.00003
NM_007294.4(BRCA1):c.398G>A (p.Arg133His) rs80357357 0.00003
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.457A>C (p.Ser153Arg) rs28897674 0.00003
NM_007294.4(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012 0.00003
NM_012452.3(TNFRSF13B):c.61+67del rs1423111679 0.00003
NM_014026.6(DCPS):c.865G>A (p.Gly289Ser) rs188923397 0.00003
NM_014049.5(ACAD9):c.1298G>A (p.Arg433Gln) rs781156571 0.00003
NM_014049.5(ACAD9):c.1832A>G (p.Tyr611Cys) rs1057523761 0.00003
NM_014141.6(CNTNAP2):c.3798C>T (p.Gly1266=) rs1483110052 0.00003
NM_014141.6(CNTNAP2):c.3950A>G (p.Asn1317Ser) rs148611916 0.00003
NM_014141.6(CNTNAP2):c.416A>G (p.Asn139Ser) rs370517200 0.00003
NM_014159.7(SETD2):c.7660G>A (p.Val2554Ile) rs768564000 0.00003
NM_014336.5(AIPL1):c.112C>T (p.Arg38Cys) rs200899521 0.00003
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00003
NM_014625.4(NPHS2):c.872G>A (p.Arg291Gln) rs751767084 0.00003
NM_014797.3(ZBTB24):c.1235A>G (p.His412Arg) rs548726702 0.00003
NM_014797.3(ZBTB24):c.464A>G (p.Asn155Ser) rs764146606 0.00003
NM_014844.5(TECPR2):c.3868G>A (p.Val1290Met) rs759184941 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.503G>A (p.Arg168Gln) rs772017103 0.00003
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu) rs747214324 0.00003
NM_015702.3(MMADHC):c.757G>A (p.Gly253Arg) rs766533747 0.00003
NM_016203.4(PRKAG2):c.1584+8G>A rs762649633 0.00003
NM_016343.4(CENPF):c.4892C>T (p.Thr1631Met) rs769388025 0.00003
NM_016589.4(TIMMDC1):c.524C>T (p.Thr175Met) rs370482859 0.00003
NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter) rs773969315 0.00003
NM_017635.5(KMT5B):c.1922C>T (p.Ala641Val) rs575248505 0.00003
NM_017721.5(CC2D1A):c.380C>T (p.Pro127Leu) rs750108401 0.00003
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802 0.00003
NM_018706.7(DHTKD1):c.2318C>T (p.Pro773Leu) rs200355418 0.00003
NM_020117.11(LARS1):c.1183G>A (p.Asp395Asn) rs762386770 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_020207.7(ERCC6L2):c.3107A>G (p.Gln1036Arg) rs376412922 0.00003
NM_020297.4(ABCC9):c.1063G>T (p.Ala355Ser) rs145455570 0.00003
NM_020822.3(KCNT1):c.3671C>T (p.Ser1224Phe) rs769083534 0.00003
NM_021008.4(DEAF1):c.1348C>T (p.Pro450Ser) rs374222357 0.00003
NM_021830.5(TWNK):c.1802G>A (p.Arg601Gln) rs141315771 0.00003
NM_021830.5(TWNK):c.1925A>G (p.Lys642Arg) rs748463127 0.00003
NM_021939.4(FKBP10):c.476G>A (p.Ser159Asn) rs1157950850 0.00003
NM_021999.5(ITM2B):c.55G>A (p.Glu19Lys) rs772385941 0.00003
NM_022114.4(PRDM16):c.3357G>C (p.Glu1119Asp) rs756442796 0.00003
NM_022124.6(CDH23):c.2524C>T (p.Arg842Trp) rs368496658 0.00003
NM_022124.6(CDH23):c.4249C>T (p.Arg1417Trp) rs756231829 0.00003
NM_022124.6(CDH23):c.7822C>T (p.Arg2608Cys) rs370922401 0.00003
NM_022124.6(CDH23):c.8878G>A (p.Val2960Ile) rs748152139 0.00003
NM_022124.6(CDH23):c.9002G>A (p.Arg3001Gln) rs111033467 0.00003
NM_022124.6(CDH23):c.9127C>T (p.Arg3043Trp) rs375907609 0.00003
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_024105.4(ALG12):c.671C>T (p.Thr224Met) rs755892540 0.00003
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala) rs755588907 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln) rs757651177 0.00003
NM_024408.4(NOTCH2):c.5684G>A (p.Arg1895His) rs201996575 0.00003
NM_024411.5(PDYN):c.-19-1G>C rs769835663 0.00003
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn) rs140856220 0.00003
NM_024675.4(PALB2):c.108+12G>A rs558824045 0.00003
NM_024675.4(PALB2):c.110G>A (p.Arg37His) rs202194596 0.00003
NM_024675.4(PALB2):c.1189A>T (p.Thr397Ser) rs367578415 0.00003
NM_024675.4(PALB2):c.1405T>C (p.Cys469Arg) rs1060502789 0.00003
NM_024675.4(PALB2):c.1647C>A (p.His549Gln) rs747842085 0.00003
NM_024675.4(PALB2):c.1766C>T (p.Thr589Met) rs773340677 0.00003
NM_024675.4(PALB2):c.1846G>C (p.Asp616His) rs786201907 0.00003
NM_024675.4(PALB2):c.1882_1890del (p.Lys628_Cys630del) rs587778583 0.00003
NM_024675.4(PALB2):c.2057G>A (p.Arg686Lys) rs267604470 0.00003
NM_024675.4(PALB2):c.20A>G (p.Lys7Arg) rs947155109 0.00003
NM_024675.4(PALB2):c.226A>G (p.Ile76Val) rs541028076 0.00003
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr) rs587780214 0.00003
NM_024675.4(PALB2):c.2997-9T>C rs765733708 0.00003
NM_024675.4(PALB2):c.3146T>C (p.Met1049Thr) rs138273800 0.00003
NM_024675.4(PALB2):c.3235G>T (p.Ala1079Ser) rs730881878 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_025000.4(DCAF17):c.1468A>G (p.Ile490Val) rs140422102 0.00003
NM_025074.7(FRAS1):c.7768C>T (p.Arg2590Cys) rs368735572 0.00003
NM_025265.4(TSEN2):c.241T>G (p.Ser81Ala) rs774798241 0.00003
NM_030662.4(MAP2K2):c.581-5T>C rs757662989 0.00003
NM_030662.4(MAP2K2):c.581-9C>T rs539611844 0.00003
NM_030777.4(SLC2A10):c.322G>A (p.Val108Ile) rs373375540 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.1660C>G (p.Gln554Glu) rs777217004 0.00003
NM_032043.3(BRIP1):c.2285G>A (p.Arg762His) rs200960251 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2492+8G>C rs772953115 0.00003
NM_032043.3(BRIP1):c.2662C>T (p.His888Tyr) rs757668121 0.00003
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00003
NM_032043.3(BRIP1):c.3651G>A (p.Trp1217Ter) rs542698396 0.00003
NM_032119.4(ADGRV1):c.18601A>C (p.Asn6201His) rs201299038 0.00003
NM_032119.4(ADGRV1):c.2039A>G (p.Asp680Gly) rs547076322 0.00003
NM_032444.4(SLX4):c.3799C>T (p.Arg1267Cys) rs201422743 0.00003
NM_032444.4(SLX4):c.485C>T (p.Thr162Met) rs140876043 0.00003
NM_032578.4(MYPN):c.1013G>A (p.Arg338His) rs149852773 0.00003
NM_032588.4(TRIM63):c.390C>G (p.Ile130Met) rs377334933 0.00003
NM_033056.4(PCDH15):c.4976A>G (p.Asp1659Gly) rs754402677 0.00003
NM_033337.3(CAV3):c.305C>T (p.Ala102Val) rs868638613 0.00003
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00003
NM_033641.4(COL4A6):c.2656G>A (p.Ala886Thr) rs138246637 0.00003
NM_052859.4(RFT1):c.200G>A (p.Arg67His) rs753527390 0.00003
NM_053025.4(MYLK):c.169C>T (p.Arg57Trp) rs776636237 0.00003
NM_053025.4(MYLK):c.4838-3C>T rs776825316 0.00003
NM_053025.4(MYLK):c.5447G>A (p.Arg1816His) rs140636141 0.00003
NM_053025.4(MYLK):c.559C>T (p.Arg187Trp) rs372482276 0.00003
NM_053025.4(MYLK):c.754+16C>T rs377397996 0.00003
NM_054012.4(ASS1):c.298C>T (p.Arg100Cys) rs370695114 0.00003
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp) rs587780253 0.00003
NM_058216.3(RAD51C):c.77A>T (p.Lys26Met) rs746026526 0.00003
NM_080680.3(COL11A2):c.3138G>C (p.Glu1046Asp) rs773329088 0.00003
NM_130837.3(OPA1):c.611-9A>G rs372157755 0.00003
NM_133259.4(LRPPRC):c.124G>A (p.Ala42Thr) rs752575254 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_138694.4(PKHD1):c.4039G>A (p.Val1347Met) rs201087689 0.00003
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581 0.00003
NM_139027.6(ADAMTS13):c.1979G>A (p.Arg660Gln) rs117943654 0.00003
NM_139076.3(ABRAXAS1):c.533G>T (p.Gly178Val) rs773434048 0.00003
NM_139076.3(ABRAXAS1):c.890G>T (p.Cys297Phe) rs377162113 0.00003
NM_139276.3(STAT3):c.1049+9T>G rs374408588 0.00003
NM_144670.6(A2ML1):c.1387A>C (p.Lys463Gln) rs764536586 0.00003
NM_144670.6(A2ML1):c.1833+10T>C rs753086817 0.00003
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser) rs372562512 0.00003
NM_144670.6(A2ML1):c.653A>G (p.Lys218Arg) rs1253780933 0.00003
NM_144773.4(PROKR2):c.403C>T (p.Arg135Cys) rs149396342 0.00003
NM_144773.4(PROKR2):c.629A>G (p.Gln210Arg) rs74315417 0.00003
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe) rs779058019 0.00003
NM_152594.3(SPRED1):c.583-9G>T rs1421813002 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062 0.00003
NM_172107.4(KCNQ2):c.2260G>A (p.Ala754Thr) rs773822234 0.00003
NM_172250.3(MMAA):c.587G>A (p.Arg196Gln) rs144389160 0.00003
NM_173354.5(SIK1):c.2120C>T (p.Pro707Leu) rs988303758 0.00003
NM_173660.5(DOK7):c.638G>A (p.Arg213Gln) rs371408752 0.00003
NM_174934.4(SCN4B):c.464-12C>T rs375056921 0.00003
NM_174936.4(PCSK9):c.278G>A (p.Arg93His) rs763855534 0.00003
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val) rs774111430 0.00003
NM_181303.2(NLGN3):c.26C>T (p.Ser9Leu) rs777601149 0.00003
NM_181332.3(NLGN4X):c.1144G>A (p.Gly382Ser) rs760969834 0.00003
NM_182914.3(SYNE2):c.8474G>A (p.Arg2825Lys) rs748757670 0.00003
NM_198252.3(GSN):c.753+1G>A rs369830648 0.00003
NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met) rs201146973 0.00003
NM_201384.3(PLEC):c.10802G>A (p.Arg3601Gln) rs369570610 0.00003
NM_201548.5(CERKL):c.1159+3G>A rs373597465 0.00003
NM_203447.4(DOCK8):c.3454G>A (p.Glu1152Lys) rs1438287343 0.00003
NM_206933.4(USH2A):c.10634G>A (p.Arg3545Gln) rs375978706 0.00003
NM_206933.4(USH2A):c.13832C>T (p.Ala4611Val) rs376077079 0.00003
NM_206933.4(USH2A):c.9244A>G (p.Ile3082Val) rs527689947 0.00003
NM_206937.2(LIG4):c.2584C>T (p.His862Tyr) rs201176444 0.00003
NM_000016.6(ACADM):c.668T>C (p.Ile223Thr) rs758111285 0.00002
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu) rs1356652354 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_000019.4(ACAT1):c.968T>C (p.Ile323Thr) rs755806238 0.00002
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891 0.00002
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993 0.00002
NM_000038.6(APC):c.2222A>G (p.Asn741Ser) rs150209825 0.00002
NM_000038.6(APC):c.2444A>C (p.Asn815Thr) rs762990578 0.00002
NM_000038.6(APC):c.2764C>T (p.Leu922Phe) rs150543576 0.00002
NM_000038.6(APC):c.2780C>G (p.Ala927Gly) rs587781500 0.00002
NM_000038.6(APC):c.284C>T (p.Ser95Phe) rs146221748 0.00002
NM_000038.6(APC):c.5060G>A (p.Arg1687Gln) rs779068685 0.00002
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu) rs551183536 0.00002
NM_000038.6(APC):c.5957C>T (p.Pro1986Leu) rs756266694 0.00002
NM_000038.6(APC):c.6487A>C (p.Lys2163Gln) rs759728732 0.00002
NM_000038.6(APC):c.6512G>A (p.Gly2171Glu) rs748745776 0.00002
NM_000038.6(APC):c.6588A>C (p.Lys2196Asn) rs961108427 0.00002
NM_000038.6(APC):c.6670A>G (p.Ile2224Val) rs374597207 0.00002
NM_000038.6(APC):c.6958C>T (p.Pro2320Ser) rs587778036 0.00002
NM_000038.6(APC):c.7105C>T (p.Pro2369Ser) rs377308875 0.00002
NM_000038.6(APC):c.8017A>G (p.Arg2673Gly) rs767286063 0.00002
NM_000038.6(APC):c.8141G>A (p.Arg2714His) rs747362422 0.00002
NM_000039.3(APOA1):c.41C>T (p.Thr14Met) rs778560581 0.00002
NM_000046.5(ARSB):c.305G>A (p.Arg102His) rs759356342 0.00002
NM_000048.4(ASL):c.1267G>A (p.Asp423Asn) rs778321544 0.00002
NM_000048.4(ASL):c.62T>C (p.Met21Thr) rs774392615 0.00002
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln) rs760676955 0.00002
NM_000051.4(ATM):c.175G>T (p.Ala59Ser) rs752527112 0.00002
NM_000051.4(ATM):c.1792A>G (p.Ile598Val) rs730881343 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.2036G>T (p.Gly679Val) rs544123518 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.2258T>C (p.Met753Thr) rs587781607 0.00002
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000051.4(ATM):c.3402+3A>G rs786203688 0.00002
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile) rs587778073 0.00002
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys) rs766226370 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys) rs730881393 0.00002
NM_000051.4(ATM):c.5005+8A>G rs1204604787 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000051.4(ATM):c.518G>T (p.Arg173Met) rs372694758 0.00002
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met) rs763020528 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val) rs758038580 0.00002
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val) rs587779857 0.00002
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys) rs863224462 0.00002
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile) rs587779870 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678 0.00002
NM_000052.7(ATP7A):c.4227-1G>A rs782283173 0.00002
NM_000053.4(ATP7B):c.1869+20A>G rs566255910 0.00002
NM_000053.4(ATP7B):c.2984T>C (p.Val995Ala) rs777791532 0.00002
NM_000053.4(ATP7B):c.3749C>G (p.Ala1250Gly) rs372042739 0.00002
NM_000055.4(BCHE):c.459A>T (p.Leu153Phe) rs747598704 0.00002
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe) rs374569385 0.00002
NM_000057.4(BLM):c.2171T>C (p.Val724Ala) rs750687788 0.00002
NM_000059.4(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390 0.00002
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199 0.00002
NM_000059.4(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405 0.00002
NM_000059.4(BRCA2):c.1376T>C (p.Leu459Ser) rs587781799 0.00002
NM_000059.4(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436 0.00002
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys) rs397507603 0.00002
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser) rs373400041 0.00002
NM_000059.4(BRCA2):c.1814T>C (p.Ile605Thr) rs80358468 0.00002
NM_000059.4(BRCA2):c.1817C>T (p.Pro606Leu) rs80358469 0.00002
NM_000059.4(BRCA2):c.1993A>G (p.Thr665Ala) rs144192844 0.00002
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala) rs80358500 0.00002
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu) rs587782737 0.00002
NM_000059.4(BRCA2):c.266C>T (p.Pro89Leu) rs748609599 0.00002
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly) rs80358559 0.00002
NM_000059.4(BRCA2):c.3208G>T (p.Ala1070Ser) rs372433502 0.00002
NM_000059.4(BRCA2):c.3256A>G (p.Ile1086Val) rs80358571 0.00002
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575 0.00002
NM_000059.4(BRCA2):c.3310A>C (p.Thr1104Pro) rs80358577 0.00002
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365 0.00002
NM_000059.4(BRCA2):c.3494A>G (p.His1165Arg) rs587782201 0.00002
NM_000059.4(BRCA2):c.353G>A (p.Arg118His) rs80358603 0.00002
NM_000059.4(BRCA2):c.3697G>A (p.Ala1233Thr) rs80358613 0.00002
NM_000059.4(BRCA2):c.3698C>T (p.Ala1233Val) rs745700206 0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.4178C>T (p.Ala1393Val) rs398122776 0.00002
NM_000059.4(BRCA2):c.4429A>G (p.Ile1477Val) rs1159807733 0.00002
NM_000059.4(BRCA2):c.4819A>G (p.Ile1607Val) rs200582465 0.00002
NM_000059.4(BRCA2):c.4854T>A (p.Asp1618Glu) rs80358708 0.00002
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly) rs80358732 0.00002
NM_000059.4(BRCA2):c.5113A>G (p.Ile1705Val) rs80358737 0.00002
NM_000059.4(BRCA2):c.5167A>G (p.Thr1723Ala) rs80358742 0.00002
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys) rs587776466 0.00002
NM_000059.4(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766 0.00002
NM_000059.4(BRCA2):c.5660C>T (p.Thr1887Met) rs397507795 0.00002
NM_000059.4(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499 0.00002
NM_000059.4(BRCA2):c.5836T>C (p.Ser1946Pro) rs80358811 0.00002
NM_000059.4(BRCA2):c.5839C>T (p.Pro1947Ser) rs80358812 0.00002
NM_000059.4(BRCA2):c.5893C>T (p.Leu1965Phe) rs398122542 0.00002
NM_000059.4(BRCA2):c.5897A>G (p.His1966Arg) rs80358823 0.00002
NM_000059.4(BRCA2):c.5921C>T (p.Thr1974Ile) rs55730620 0.00002
NM_000059.4(BRCA2):c.5937C>G (p.Ser1979Arg) rs28897737 0.00002
NM_000059.4(BRCA2):c.6013G>T (p.Asp2005Tyr) rs587781760 0.00002
NM_000059.4(BRCA2):c.6098T>A (p.Ile2033Lys) rs398122548 0.00002
NM_000059.4(BRCA2):c.6125A>G (p.Gln2042Arg) rs80358852 0.00002
NM_000059.4(BRCA2):c.6176G>A (p.Ser2059Asn) rs587780657 0.00002
NM_000059.4(BRCA2):c.6550C>G (p.Gln2184Glu) rs80358887 0.00002
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875 0.00002
NM_000059.4(BRCA2):c.680C>T (p.Ala227Val) rs149565664 0.00002
NM_000059.4(BRCA2):c.6848C>A (p.Pro2283His) rs80358910 0.00002
NM_000059.4(BRCA2):c.7021C>T (p.Arg2341Cys) rs41293505 0.00002
NM_000059.4(BRCA2):c.7418G>A (p.Cys2473Tyr) rs55924966 0.00002
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile) rs587782191 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.7618C>A (p.Leu2540Met) rs397507390 0.00002
NM_000059.4(BRCA2):c.7643A>G (p.His2548Arg) rs80358992 0.00002
NM_000059.4(BRCA2):c.7684T>C (p.Phe2562Leu) rs80358995 0.00002
NM_000059.4(BRCA2):c.7822C>G (p.Pro2608Ala) rs879255308 0.00002
NM_000059.4(BRCA2):c.8002A>G (p.Arg2668Gly) rs276174900 0.00002
NM_000059.4(BRCA2):c.800G>A (p.Gly267Glu) rs80359036 0.00002
NM_000059.4(BRCA2):c.8331+3A>C rs876659382 0.00002
NM_000059.4(BRCA2):c.8488-10A>G rs749196803 0.00002
NM_000059.4(BRCA2):c.8737G>C (p.Asp2913His) rs144322424 0.00002
NM_000059.4(BRCA2):c.8739C>G (p.Asp2913Glu) rs786201996 0.00002
NM_000059.4(BRCA2):c.8756G>T (p.Gly2919Val) rs80359131 0.00002
NM_000059.4(BRCA2):c.8942A>G (p.Glu2981Gly) rs398122716 0.00002
NM_000059.4(BRCA2):c.9098C>T (p.Thr3033Ile) rs431825374 0.00002
NM_000059.4(BRCA2):c.9455A>G (p.Glu3152Gly) rs80359219 0.00002
NM_000059.4(BRCA2):c.9548T>C (p.Ile3183Thr) rs755201475 0.00002
NM_000059.4(BRCA2):c.9649-9T>G rs765352313 0.00002
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val) rs80359254 0.00002
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) rs758795961 0.00002
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln) rs373407950 0.00002
NM_000077.5(CDKN2A):c.151G>A (p.Val51Ile) rs762630679 0.00002
NM_000077.5(CDKN2A):c.400G>C (p.Ala134Pro) rs372599739 0.00002
NM_000077.5(CDKN2A):c.459C>T (p.Asp153=) rs778871932 0.00002
NM_000080.4(CHRNE):c.1466C>T (p.Pro489Leu) rs575920043 0.00002
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387 0.00002
NM_000089.4(COL1A2):c.2933G>A (p.Arg978His) rs559605075 0.00002
NM_000090.4(COL3A1):c.1885A>G (p.Lys629Glu) rs1466862530 0.00002
NM_000090.4(COL3A1):c.3145C>A (p.Pro1049Thr) rs775562650 0.00002
NM_000090.4(COL3A1):c.3653C>T (p.Pro1218Leu) rs763901831 0.00002
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu) rs534253913 0.00002
NM_000091.5(COL4A3):c.4027+10C>T rs778737711 0.00002
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 0.00002
NM_000094.4(COL7A1):c.1442G>A (p.Arg481His) rs147040026 0.00002
NM_000094.4(COL7A1):c.5441G>A (p.Arg1814His) rs756258247 0.00002
NM_000094.4(COL7A1):c.7882C>T (p.Arg2628Trp) rs376588113 0.00002
NM_000096.4(CP):c.229G>C (p.Asp77His) rs200683433 0.00002
NM_000096.4(CP):c.583G>A (p.Gly195Arg) rs750451693 0.00002
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser) rs768047511 0.00002
NM_000110.4(DPYD):c.1108A>G (p.Ile370Val) rs72549305 0.00002
NM_000110.4(DPYD):c.545T>A (p.Met182Lys) rs779728902 0.00002
NM_000112.4(SLC26A2):c.472C>T (p.Arg158Cys) rs762787339 0.00002
NM_000122.2(ERCC3):c.351A>T (p.Lys117Asn) rs762430357 0.00002
NM_000124.4(ERCC6):c.2230C>T (p.Arg744Trp) rs368188837 0.00002
NM_000126.4(ETFA):c.494T>C (p.Val165Ala) rs749455172 0.00002
NM_000128.4(F11):c.683G>A (p.Arg228Gln) rs281875246 0.00002
NM_000132.4(F8):c.1030A>C (p.Lys344Gln) rs782395704 0.00002
NM_000136.3(FANCC):c.233C>A (p.Pro78His) rs138722298 0.00002
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala) rs377620735 0.00002
NM_000136.3(FANCC):c.770T>C (p.Leu257Pro) rs1060502515 0.00002
NM_000138.5(FBN1):c.1547G>A (p.Arg516Gln) rs775489067 0.00002
NM_000138.5(FBN1):c.2093C>T (p.Pro698Leu) rs764827921 0.00002
NM_000138.5(FBN1):c.2547C>G (p.Ile849Met) rs778258207 0.00002
NM_000138.5(FBN1):c.2582G>A (p.Arg861Gln) rs794728328 0.00002
NM_000138.5(FBN1):c.2678-14G>A rs369475895 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.3410G>A (p.Arg1137His) rs137854456 0.00002
NM_000138.5(FBN1):c.4336+4A>C rs764099050 0.00002
NM_000138.5(FBN1):c.4358C>T (p.Pro1453Leu) rs368650399 0.00002
NM_000138.5(FBN1):c.5918-12T>G rs751115639 0.00002
NM_000138.5(FBN1):c.62C>T (p.Thr21Met) rs1489806847 0.00002
NM_000138.5(FBN1):c.6732G>A (p.Met2244Ile) rs780960909 0.00002
NM_000138.5(FBN1):c.7231G>A (p.Asp2411Asn) rs775558051 0.00002
NM_000138.5(FBN1):c.7454-6T>C rs1253572031 0.00002
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112 0.00002
NM_000152.5(GAA):c.1195-22C>T rs1038744830 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000155.3(GALT):c.-392A>T rs924095458 0.00002
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys) rs1141812 0.00002
NM_000157.4(GBA1):c.941A>G (p.Asn314Ser) rs535896234 0.00002
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys) rs1264734195 0.00002
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000163.5(GHR):c.206C>T (p.Thr69Ile) rs75028043 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr) rs768854566 0.00002
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu) rs41295270 0.00002
NM_000179.3(MSH6):c.2168G>C (p.Gly723Ala) rs759403696 0.00002
NM_000179.3(MSH6):c.2511C>G (p.His837Gln) rs587779925 0.00002
NM_000179.3(MSH6):c.2551A>G (p.Ser851Gly) rs762352116 0.00002
NM_000179.3(MSH6):c.257C>T (p.Thr86Ile) rs768444916 0.00002
NM_000179.3(MSH6):c.25A>G (p.Ser9Gly) rs41294986 0.00002
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr) rs774774596 0.00002
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn) rs730881798 0.00002
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys) rs753034685 0.00002
NM_000179.3(MSH6):c.2950A>C (p.Asn984His) rs146359682 0.00002
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp) rs587781690 0.00002
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser) rs786204182 0.00002
NM_000179.3(MSH6):c.3801+4T>C rs758830540 0.00002
NM_000179.3(MSH6):c.3979A>C (p.Asn1327His) rs756216566 0.00002
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp) rs786204130 0.00002
NM_000179.3(MSH6):c.728G>A (p.Arg243His) rs370157832 0.00002
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys) rs776859837 0.00002
NM_000180.4(GUCY2D):c.1618C>T (p.Arg540Cys) rs61749754 0.00002
NM_000181.4(GUSB):c.1790-2dup rs764071830 0.00002
NM_000182.5(HADHA):c.677G>A (p.Gly226Glu) rs143919136 0.00002
NM_000183.3(HADHB):c.362T>C (p.Leu121Pro) rs773127211 0.00002
NM_000190.4(HMBS):c.67G>A (p.Val23Met) rs776931683 0.00002
NM_000199.5(SGSH):c.683A>G (p.Asn228Ser) rs771177142 0.00002
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val) rs527336882 0.00002
NM_000203.5(IDUA):c.1349C>A (p.Pro450His) rs895626490 0.00002
NM_000203.5(IDUA):c.1828+5G>A rs565649151 0.00002
NM_000215.4(JAK3):c.1503G>T (p.Gln501His) rs201283129 0.00002
NM_000215.4(JAK3):c.268G>A (p.Val90Met) rs1016346013 0.00002
NM_000228.3(LAMB3):c.2110G>C (p.Glu704Gln) rs750850607 0.00002
NM_000231.3(SGCG):c.535G>A (p.Val179Met) rs139072866 0.00002
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030 0.00002
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val) rs1057519328 0.00002
NM_000243.3(MEFV):c.1229G>A (p.Arg410His) rs1399033974 0.00002
NM_000243.3(MEFV):c.1759+12G>A rs749730274 0.00002
NM_000243.3(MEFV):c.2122C>T (p.Arg708Cys) rs104895202 0.00002
NM_000243.3(MEFV):c.2146A>G (p.Lys716Glu) rs746092199 0.00002
NM_000243.3(MEFV):c.239G>A (p.Arg80His) rs201075710 0.00002
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr) rs104895124 0.00002
NM_000249.4(MLH1):c.1890T>G (p.Ile630Met) rs774878438 0.00002
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser) rs56250509 0.00002
NM_000249.4(MLH1):c.790C>T (p.His264Tyr) rs63751597 0.00002
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala) rs779581111 0.00002
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln) rs63750268 0.00002
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala) rs150503781 0.00002
NM_000251.3(MSH2):c.116G>C (p.Arg39Pro) rs587782759 0.00002
NM_000251.3(MSH2):c.1276+7A>G rs748554540 0.00002
NM_000251.3(MSH2):c.1570C>T (p.Arg524Cys) rs755818010 0.00002
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro) rs774440277 0.00002
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile) rs267608015 0.00002
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys) rs775390721 0.00002
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn) rs199747712 0.00002
NM_000251.3(MSH2):c.792+5A>G rs267607935 0.00002
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu) rs750746034 0.00002
NM_000251.3(MSH2):c.894G>C (p.Gln298His) rs587781397 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000257.4(MYH7):c.11C>T (p.Ser4Leu) rs758659692 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser) rs367546859 0.00002
NM_000257.4(MYH7):c.3854-5C>T rs752385694 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.4762C>T (p.Arg1588Cys) rs1194197356 0.00002
NM_000257.4(MYH7):c.5090G>A (p.Arg1697Gln) rs766831916 0.00002
NM_000257.4(MYH7):c.5537G>A (p.Arg1846His) rs757803046 0.00002
NM_000258.3(MYL3):c.136T>C (p.Phe46Leu) rs730880953 0.00002
NM_000258.3(MYL3):c.152T>C (p.Ile51Thr) rs749017586 0.00002
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly) rs193922391 0.00002
NM_000260.4(MYO7A):c.1142C>T (p.Thr381Met) rs782681743 0.00002
NM_000260.4(MYO7A):c.2023C>T (p.Arg675Cys) rs782459520 0.00002
NM_000260.4(MYO7A):c.4039C>T (p.Arg1347Cys) rs111534474 0.00002
NM_000260.4(MYO7A):c.5522C>T (p.Thr1841Met) rs746667217 0.00002
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr) rs749506008 0.00002
NM_000274.4(OAT):c.46C>T (p.Arg16Cys) rs778757920 0.00002
NM_000302.4(PLOD1):c.742-6C>T rs569632202 0.00002
NM_000310.4(PPT1):c.287G>A (p.Cys96Tyr) rs386833640 0.00002
NM_000314.6(PTEN):c.-929G>A rs1554889924 0.00002
NM_000314.8(PTEN):c.-765G>A rs587776674 0.00002
NM_000321.3(RB1):c.2491A>G (p.Ile831Val) rs761068783 0.00002
NM_000329.3(RPE65):c.1355T>G (p.Val452Gly) rs62637004 0.00002
NM_000334.4(SCN4A):c.1378G>A (p.Glu460Lys) rs540596321 0.00002
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His) rs770588235 0.00002
NM_000334.4(SCN4A):c.56C>T (p.Pro19Leu) rs745506979 0.00002
NM_000335.5(SCN5A):c.157C>T (p.Arg53Trp) rs878859550 0.00002
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile) rs958480279 0.00002
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys) rs745435760 0.00002
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His) rs199473327 0.00002
NM_000350.3(ABCA4):c.2304C>G (p.Ile768Met) rs946594091 0.00002
NM_000350.3(ABCA4):c.3449G>A (p.Cys1150Tyr) rs375783686 0.00002
NM_000352.6(ABCC8):c.1886C>T (p.Pro629Leu) rs375862506 0.00002
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr) rs761862121 0.00002
NM_000352.6(ABCC8):c.3175G>A (p.Asp1059Asn) rs755718934 0.00002
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met) rs141322087 0.00002
NM_000360.4(TH):c.1061C>T (p.Ala354Val) rs763039181 0.00002
NM_000363.5(TNNI3):c.283-9C>T rs759922995 0.00002
NM_000372.5(TYR):c.646T>A (p.Leu216Met) rs61754363 0.00002
NM_000382.3(ALDH3A2):c.1393G>A (p.Gly465Ser) rs371197295 0.00002
NM_000382.3(ALDH3A2):c.1443+1G>A rs199548781 0.00002
NM_000388.4(CASR):c.220A>C (p.Met74Leu) rs745377913 0.00002
NM_000393.5(COL5A2):c.3826A>G (p.Ser1276Gly) rs555111281 0.00002
NM_000396.4(CTSK):c.137G>A (p.Arg46Gln) rs200870056 0.00002
NM_000400.4(ERCC2):c.1774C>T (p.Arg592Cys) rs190678702 0.00002
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val) rs550705310 0.00002
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) rs143626559 0.00002
NM_000426.4(LAMA2):c.358G>A (p.Glu120Lys) rs778869610 0.00002
NM_000435.3(NOTCH3):c.6266C>T (p.Pro2089Leu) rs749288986 0.00002
NM_000441.2(SLC26A4):c.1300G>A (p.Ala434Thr) rs757552791 0.00002
NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn) rs759360026 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn) rs994170964 0.00002
NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe) rs760040670 0.00002
NM_000455.5(STK11):c.-9G>A rs770466669 0.00002
NM_000455.5(STK11):c.1040C>T (p.Ala347Val) rs587782058 0.00002
NM_000455.5(STK11):c.1108+3G>A rs755746417 0.00002
NM_000455.5(STK11):c.1168G>A (p.Val390Met) rs374078532 0.00002
NM_000455.5(STK11):c.1229C>T (p.Ala410Val) rs372329880 0.00002
NM_000455.5(STK11):c.944C>T (p.Pro315Leu) rs766958608 0.00002
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
NM_000465.4(BARD1):c.159-7C>T rs533403598 0.00002
NM_000465.4(BARD1):c.1613G>A (p.Ser538Asn) rs370771157 0.00002
NM_000465.4(BARD1):c.1693C>T (p.Arg565Cys) rs587782279 0.00002
NM_000465.4(BARD1):c.443G>A (p.Ser148Asn) rs1220764138 0.00002
NM_000465.4(BARD1):c.476G>A (p.Ser159Asn) rs786203226 0.00002
NM_000465.4(BARD1):c.556A>G (p.Ser186Gly) rs16852741 0.00002
NM_000465.4(BARD1):c.776A>G (p.Asp259Gly) rs587780036 0.00002
NM_000487.6(ARSA):c.991G>A (p.Glu331Lys) rs398123419 0.00002
NM_000492.4(CFTR):c.127G>A (p.Val43Ile) rs370586917 0.00002
NM_000492.4(CFTR):c.1453A>T (p.Ser485Cys) rs138427145 0.00002
NM_000492.4(CFTR):c.1570T>C (p.Cys524Arg) rs368516826 0.00002
NM_000492.4(CFTR):c.1580A>G (p.Glu527Gly) rs374453187 0.00002
NM_000492.4(CFTR):c.1680-13A>G rs757981933 0.00002
NM_000492.4(CFTR):c.1694A>G (p.Asp565Gly) rs397508270 0.00002
NM_000492.4(CFTR):c.1762G>A (p.Glu588Lys) rs755986694 0.00002
NM_000492.4(CFTR):c.2490+5G>T rs764466147 0.00002
NM_000492.4(CFTR):c.2629T>G (p.Ser877Ala) rs761531223 0.00002
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile) rs752617117 0.00002
NM_000492.4(CFTR):c.2713G>C (p.Val905Leu) rs886186687 0.00002
NM_000492.4(CFTR):c.2908+19G>C rs370683572 0.00002
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val) rs759394109 0.00002
NM_000492.4(CFTR):c.3503A>G (p.Asp1168Gly) rs150326506 0.00002
NM_000492.4(CFTR):c.3650C>T (p.Ala1217Val) rs749662161 0.00002
NM_000492.4(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793 0.00002
NM_000492.4(CFTR):c.4045G>A (p.Gly1349Ser) rs201686600 0.00002
NM_000492.4(CFTR):c.4261G>T (p.Val1421Leu) rs578237673 0.00002
NM_000492.4(CFTR):c.535C>A (p.Gln179Lys) rs367850319 0.00002
NM_000492.4(CFTR):c.76A>G (p.Lys26Glu) rs759726535 0.00002
NM_000492.4(CFTR):c.869+8G>T rs773933167 0.00002
NM_000492.4(CFTR):c.964G>A (p.Val322Met) rs1800085 0.00002
NM_000492.4(CFTR):c.997C>T (p.Leu333Phe) rs193922533 0.00002
NM_000494.4(COL17A1):c.3580T>C (p.Ser1194Pro) rs139697030 0.00002
NM_000500.9(CYP21A2):c.922T>G (p.Leu308Val) rs994764994 0.00002
NM_000501.4(ELN):c.133+6G>A rs1216357938 0.00002
NM_000512.5(GALNS):c.1052C>T (p.Ala351Val) rs761386453 0.00002
NM_000515.5(GH1):c.350A>G (p.Gln117Arg) rs142396035 0.00002
NM_000518.5(HBB):c.*93A>T rs901033731 0.00002
NM_000518.5(HBB):c.-21T>C rs772919319 0.00002
NM_000518.5(HBB):c.151A>T (p.Thr51Ser) rs63750336 0.00002
NM_000518.5(HBB):c.223G>A (p.Gly75Ser) rs33916541 0.00002
NM_000518.5(HBB):c.41C>T (p.Ala14Val) rs35203747 0.00002
NM_000520.5(HEXA):c.-593T>C rs1483623884 0.00002
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) rs751592419 0.00002
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His) rs771797701 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe) rs1279368649 0.00002
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser) rs747721968 0.00002
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu) rs376856949 0.00002
NM_000531.6(OTC):c.380C>T (p.Thr127Met) rs762910963 0.00002
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500 0.00002
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586 0.00002
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.23+7G>C rs878854047 0.00002
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.4710C>T (p.Asn1570=) rs763113534 0.00002
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn) rs1315721381 0.00002
NM_000546.6(TP53):c.1060C>A (p.Gln354Lys) rs755394212 0.00002
NM_000546.6(TP53):c.464C>G (p.Thr155Ser) rs786202752 0.00002
NM_000546.6(TP53):c.466C>T (p.Arg156Cys) rs563378859 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_000548.5(TSC2):c.3610+4C>T rs201978396 0.00002
NM_000551.4(VHL):c.376G>A (p.Asp126Asn) rs104893831 0.00002
NM_000552.5(VWF):c.4000C>T (p.Arg1334Trp) rs746810319 0.00002
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr) rs779439947 0.00002
NM_000642.3(AGL):c.3836+3A>G rs372921189 0.00002
NM_000709.4(BCKDHA):c.508C>T (p.Pro170Ser) rs34956071 0.00002
NM_000709.4(BCKDHA):c.889C>T (p.Arg297Cys) rs145901144 0.00002
NM_000718.4(CACNA1B):c.4584G>C (p.Leu1528=) rs1363673878 0.00002
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655 0.00002
NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro) rs1060503516 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu) rs775072430 0.00002
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367 0.00002
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102 0.00002
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His) rs192890834 0.00002
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys) rs397516527 0.00002
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile) rs766802574 0.00002
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser) rs777736127 0.00002
NM_001036.6(RYR3):c.13784C>G (p.Ala4595Gly) rs770077165 0.00002
NM_001037.5(SCN1B):c.448+100G>T rs779658201 0.00002
NM_001042492.3(NF1):c.3970A>G (p.Thr1324Ala) rs189522993 0.00002
NM_001042492.3(NF1):c.4958G>A (p.Arg1653His) rs763413441 0.00002
NM_001042492.3(NF1):c.7523A>G (p.Tyr2508Cys) rs762169098 0.00002
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln) rs375468032 0.00002
NM_001042517.2(DIAPH3):c.1561A>G (p.Thr521Ala) rs775151037 0.00002
NM_001042545.2(LTBP4):c.2638C>T (p.Pro880Ser) rs761312837 0.00002
NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys) rs773370513 0.00002
NM_001048174.2(MUTYH):c.1166G>A (p.Arg389His) rs373803765 0.00002
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp) rs369299948 0.00002
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln) rs587782120 0.00002
NM_001048174.2(MUTYH):c.466C>T (p.Arg156Trp) rs779997419 0.00002
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp) rs587781645 0.00002
NM_001048174.2(MUTYH):c.83A>G (p.Asn28Ser) rs563275223 0.00002
NM_001048174.2(MUTYH):c.916C>G (p.Pro306Ala) rs587778537 0.00002
NM_001077350.3(NPRL3):c.1330G>A (p.Ala444Thr) rs368198378 0.00002
NM_001077365.2(POMT1):c.132A>C (p.Glu44Asp) rs398124244 0.00002
NM_001077365.2(POMT1):c.2098G>A (p.Gly700Arg) rs912556508 0.00002
NM_001082486.2(ACD):c.1004G>A (p.Arg335His) rs774558672 0.00002
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His) rs148237800 0.00002
NM_001085049.3(MRAS):c.548G>A (p.Ser183Asn) rs562054267 0.00002
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.536+6C>G rs771398006 0.00002
NM_001103.4(ACTN2):c.892C>T (p.Arg298Cys) rs1060503683 0.00002
NM_001110556.2(FLNA):c.3934C>T (p.Arg1312Cys) rs781928289 0.00002
NM_001110556.2(FLNA):c.5447C>T (p.Ala1816Val) rs12395634 0.00002
NM_001110556.2(FLNA):c.6728C>G (p.Ala2243Gly) rs953454766 0.00002
NM_001110556.2(FLNA):c.7259T>C (p.Val2420Ala) rs782289803 0.00002
NM_001110792.2(MECP2):c.1151A>C (p.His384Pro) rs782019867 0.00002
NM_001110792.2(MECP2):c.1153T>C (p.Ser385Pro) rs782420258 0.00002
NM_001110792.2(MECP2):c.1154C>A (p.Ser385Ter) rs267608569 0.00002
NM_001110792.2(MECP2):c.1187C>T (p.Pro396Leu) rs193922676 0.00002
NM_001110792.2(MECP2):c.1483G>A (p.Glu495Lys) rs587777421 0.00002
NM_001110792.2(MECP2):c.52G>A (p.Glu18Lys) rs1234894476 0.00002
NM_001113378.2(FANCI):c.3188A>T (p.Asp1063Val) rs142756279 0.00002
NM_001114134.2(EPB42):c.1041G>T (p.Gln347His) rs574359460 0.00002
NM_001128159.3(VPS53):c.2371C>T (p.Arg791Cys) rs1188509631 0.00002
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr) rs560905645 0.00002
NM_001128425.2(MUTYH):c.17C>A (p.Ser6Tyr) rs587782837 0.00002
NM_001130987.2(DYSF):c.1255C>T (p.Arg419Trp) rs527435707 0.00002
NM_001130987.2(DYSF):c.3517C>T (p.Arg1173Cys) rs372297758 0.00002
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu) rs773837400 0.00002
NM_001134407.3(GRIN2A):c.2908C>T (p.Arg970Trp) rs765257420 0.00002
NM_001136472.2(LITAF):c.479G>A (p.Arg160His) rs864622744 0.00002
NM_001148.6(ANK2):c.10646G>A (p.Arg3549His) rs768351547 0.00002
NM_001148.6(ANK2):c.2044C>G (p.Leu682Val) rs749503484 0.00002
NM_001148.6(ANK2):c.3067G>A (p.Gly1023Arg) rs151127289 0.00002
NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val) rs531261130 0.00002
NM_001148.6(ANK2):c.9703C>T (p.Pro3235Ser) rs202098889 0.00002
NM_001164508.2(NEB):c.20342G>A (p.Arg6781His) rs752285938 0.00002
NM_001164508.2(NEB):c.24557G>A (p.Arg8186His) rs759962661 0.00002
NM_001194998.2(CEP152):c.2148-17G>A rs751691427 0.00002
NM_001194998.2(CEP152):c.4094-1G>A rs759175035 0.00002
NM_001197104.2(KMT2A):c.10901-5A>G rs369909433 0.00002
NM_001199138.2(NLRC4):c.104G>A (p.Arg35His) rs755228287 0.00002
NM_001220.5(CAMK2B):c.1176+9C>G rs766988307 0.00002
NM_001243279.3(ACSF3):c.1543C>T (p.Arg515Trp) rs563580010 0.00002
NM_001244008.2(KIF1A):c.3509G>A (p.Ser1170Asn) rs776451256 0.00002
NM_001267550.2(TTN):c.100696A>G (p.Thr33566Ala) rs878854282 0.00002
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp) rs367926247 0.00002
NM_001267550.2(TTN):c.103996C>G (p.Pro34666Ala) rs201240519 0.00002
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn) rs768211726 0.00002
NM_001267550.2(TTN):c.2219G>A (p.Arg740His) rs28933405 0.00002
NM_001267550.2(TTN):c.24701C>T (p.Thr8234Ile) rs369521909 0.00002
NM_001267550.2(TTN):c.2504C>A (p.Ala835Asp) rs200572298 0.00002
NM_001267550.2(TTN):c.26179G>A (p.Val8727Ile) rs544958705 0.00002
NM_001267550.2(TTN):c.28754-11T>C rs146738622 0.00002
NM_001267550.2(TTN):c.34925C>T (p.Ala11642Val) rs375391365 0.00002
NM_001267550.2(TTN):c.41980C>T (p.Pro13994Ser) rs201232835 0.00002
NM_001267550.2(TTN):c.43691C>G (p.Ser14564Cys) rs377015571 0.00002
NM_001267550.2(TTN):c.52679A>T (p.Asp17560Val) rs954068043 0.00002
NM_001267550.2(TTN):c.5503C>A (p.Gln1835Lys) rs537070177 0.00002
NM_001267550.2(TTN):c.55405A>C (p.Thr18469Pro) rs1044328956 0.00002
NM_001267550.2(TTN):c.59827G>A (p.Glu19943Lys) rs751863629 0.00002
NM_001267550.2(TTN):c.59917G>A (p.Asp19973Asn) rs148353350 0.00002
NM_001267550.2(TTN):c.63794-15T>C rs762325051 0.00002
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His) rs751046367 0.00002
NM_001267550.2(TTN):c.66349G>A (p.Ala22117Thr) rs727505036 0.00002
NM_001267550.2(TTN):c.67487A>G (p.Lys22496Arg) rs397517669 0.00002
NM_001267550.2(TTN):c.68818G>A (p.Glu22940Lys) rs1443126035 0.00002
NM_001267550.2(TTN):c.76070G>A (p.Arg25357His) rs397517703 0.00002
NM_001267550.2(TTN):c.81029T>C (p.Val27010Ala) rs369235214 0.00002
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) rs766419568 0.00002
NM_001267550.2(TTN):c.89054A>G (p.Lys29685Arg) rs773157007 0.00002
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983 0.00002
NM_001267550.2(TTN):c.96871A>T (p.Thr32291Ser) rs1377452178 0.00002
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly) rs776406819 0.00002
NM_001276345.2(TNNT2):c.40G>A (p.Glu14Lys) rs772890125 0.00002
NM_001276345.2(TNNT2):c.720-6G>A rs113471285 0.00002
NM_001289808.2(CRYAB):c.325-2A>G rs202024436 0.00002
NM_001291303.3(FAT4):c.9156C>A (p.Asp3052Glu) rs761372826 0.00002
NM_001292034.3(TAB2):c.1747A>G (p.Ile583Val) rs202240545 0.00002
NM_001292063.2(OTOG):c.2525C>A (p.Pro842His) rs560987450 0.00002
NM_001303256.3(MORC2):c.2243T>C (p.Val748Ala) rs746418433 0.00002
NM_001322934.2(NFKB2):c.1726G>C (p.Glu576Gln) rs1306109565 0.00002
NM_001330260.2(SCN8A):c.1876T>C (p.Ser626Pro) rs753009673 0.00002
NM_001349253.2(SCN11A):c.2944C>T (p.Arg982Ter) rs145290679 0.00002
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp) rs775773057 0.00002
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe) rs782757170 0.00002
NM_001365088.1(SLC12A6):c.3427A>G (p.Ser1143Gly) rs1322848611 0.00002
NM_001367624.2(ZNF469):c.3119A>C (p.Lys1040Thr) rs273585619 0.00002
NM_001369268.1(ACAN):c.1201G>A (p.Val401Ile) rs200027891 0.00002
NM_001369268.1(ACAN):c.553C>A (p.Pro185Thr) rs751285545 0.00002
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr) rs104893692 0.00002
NM_001372043.1(PCSK5):c.5315T>C (p.Leu1772Pro) rs905582676 0.00002
NM_001377.3(DYNC2H1):c.5087C>T (p.Thr1696Met) rs751030969 0.00002
NM_001378454.1(ALMS1):c.10261C>A (p.Pro3421Thr) rs763306448 0.00002
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 0.00002
NM_001378454.1(ALMS1):c.11660T>C (p.Ile3887Thr) rs45630562 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.7541-6C>T rs1408073039 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.9075A>G (p.Pro3025=) rs1278648561 0.00002
NM_001378454.1(ALMS1):c.9928C>T (p.Pro3310Ser) rs775666186 0.00002
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His) rs886940102 0.00002
NM_001379270.1(CNGA1):c.1915C>T (p.Arg639Ter) rs750954043 0.00002
NM_001379500.1(COL18A1):c.979C>T (p.Arg327Trp) rs551388856 0.00002
NM_001379610.1(SPINK1):c.-14G>A rs373391756 0.00002
NM_001384140.1(PCDH15):c.1591C>T (p.Leu531Phe) rs750009006 0.00002
NM_001384140.1(PCDH15):c.841A>G (p.Thr281Ala) rs773843633 0.00002
NM_001384474.1(LOXHD1):c.5930G>A (p.Arg1977His) rs1456219036 0.00002
NM_001386298.1(CIC):c.6664C>T (p.Arg2222Trp) rs773220927 0.00002
NM_001386393.1(PANK2):c.203C>T (p.Ser68Leu) rs137852969 0.00002
NM_001429.4(EP300):c.1094A>G (p.Asn365Ser) rs747431211 0.00002
NM_001448.3(GPC4):c.650C>T (p.Ala217Val) rs2068380433 0.00002
NM_001457.4(FLNB):c.5051A>G (p.Tyr1684Cys) rs376280025 0.00002
NM_001458.5(FLNC):c.4270G>A (p.Gly1424Arg) rs1202331272 0.00002
NM_001493.3(GDI1):c.1192-5T>C rs782184019 0.00002
NM_001690.4(ATP6V1A):c.590A>G (p.Glu197Gly) rs747456726 0.00002
NM_001845.6(COL4A1):c.4970C>T (p.Thr1657Met) rs779139113 0.00002
NM_001846.4(COL4A2):c.2344G>A (p.Gly782Arg) rs768662646 0.00002
NM_001854.4(COL11A1):c.1309-7G>A rs748684225 0.00002
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg) rs760895692 0.00002
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp) rs139818667 0.00002
NM_001887.4(CRYBB1):c.692G>A (p.Arg231His) rs745344551 0.00002
NM_001918.5(DBT):c.1A>G (p.Met1Val) rs759312184 0.00002
NM_001927.4(DES):c.1325C>A (p.Thr442Asn) rs121913005 0.00002
NM_001927.4(DES):c.167T>A (p.Val56Glu) rs1170549656 0.00002
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met) rs200137091 0.00002
NM_001985.3(ETFB):c.134C>T (p.Ala45Val) rs770414295 0.00002
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn) rs537477883 0.00002
NM_002180.3(IGHMBP2):c.790C>T (p.Arg264Cys) rs139497493 0.00002
NM_002185.5(IL7R):c.653G>A (p.Ser218Asn) rs374232919 0.00002
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser) rs544110604 0.00002
NM_002225.5(IVD):c.596G>T (p.Gly199Val) rs121434285 0.00002
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys) rs199511559 0.00002
NM_002230.4(JUP):c.286G>A (p.Glu96Lys) rs191683892 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His) rs782215140 0.00002
NM_002294.3(LAMP2):c.1094-10C>T rs1278507301 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002471.4(MYH6):c.3135G>T (p.Lys1045Asn) rs758449996 0.00002
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile) rs144761217 0.00002
NM_002471.4(MYH6):c.4182G>C (p.Lys1394Asn) rs753160962 0.00002
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met) rs750721562 0.00002
NM_002471.4(MYH6):c.5111C>T (p.Ala1704Val) rs776961989 0.00002
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) rs201383498 0.00002
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val) rs767096302 0.00002
NM_002474.3(MYH11):c.3214G>A (p.Ala1072Thr) rs759155353 0.00002
NM_002485.5(NBN):c.104T>C (p.Ile35Thr) rs587780773 0.00002
NM_002485.5(NBN):c.1484C>T (p.Pro495Leu) rs863224714 0.00002
NM_002485.5(NBN):c.1591A>G (p.Ile531Val) rs587782330 0.00002
NM_002485.5(NBN):c.1667T>A (p.Val556Glu) rs558023830 0.00002
NM_002485.5(NBN):c.1845+3A>G rs587780777 0.00002
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys) rs766602873 0.00002
NM_002485.5(NBN):c.1925A>G (p.Lys642Arg) rs587781547 0.00002
NM_002485.5(NBN):c.193G>A (p.Val65Ile) rs778998026 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_002485.5(NBN):c.2070+4G>A rs876660950 0.00002
NM_002485.5(NBN):c.775G>A (p.Glu259Lys) rs201559159 0.00002
NM_002485.5(NBN):c.940G>A (p.Val314Met) rs529845940 0.00002
NM_002691.4(POLD1):c.1666G>A (p.Val556Ile) rs762273084 0.00002
NM_002691.4(POLD1):c.2250+5G>C rs772130395 0.00002
NM_002693.3(POLG):c.1613A>C (p.Glu538Ala) rs767216577 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002693.3(POLG):c.3266A>G (p.Gln1089Arg) rs369716454 0.00002
NM_002734.5(PRKAR1A):c.329C>T (p.Ala110Val) rs1194755479 0.00002
NM_002769.5(PRSS1):c.200C>T (p.Ser67Phe) rs765342413 0.00002
NM_002769.5(PRSS1):c.35C>T (p.Ala12Val) rs772363999 0.00002
NM_002769.5(PRSS1):c.361G>A (p.Ala121Thr) rs199422123 0.00002
NM_002769.5(PRSS1):c.454+5G>T rs1468322371 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val) rs767712281 0.00002
NM_002878.4(RAD51D):c.738+3G>A rs751062153 0.00002
NM_002878.4(RAD51D):c.872G>A (p.Arg291His) rs150134822 0.00002
NM_002880.4(RAF1):c.1193+17C>T rs753928357 0.00002
NM_002880.4(RAF1):c.819C>G (p.Asp273Glu) rs771675427 0.00002
NM_002880.4(RAF1):c.952C>T (p.Arg318Trp) rs759433668 0.00002
NM_003002.4(SDHD):c.479G>T (p.Ter160Leu) rs201372601 0.00002
NM_003036.4(SKI):c.1211+17C>T rs753878221 0.00002
NM_003098.3(SNTA1):c.702-7C>G rs780688953 0.00002
NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser) rs786205847 0.00002
NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg) rs367582146 0.00002
NM_003738.5(PTCH2):c.1081C>T (p.Gln361Ter) rs757205202 0.00002
NM_003738.5(PTCH2):c.1783C>T (p.His595Tyr) rs199563590 0.00002
NM_003738.5(PTCH2):c.70C>G (p.Gln24Glu) rs1038343665 0.00002
NM_003764.4(STX11):c.842T>G (p.Phe281Cys) rs560006390 0.00002
NM_003907.3(EIF2B5):c.1153A>G (p.Ile385Val) rs113994073 0.00002
NM_003982.4(SLC7A7):c.371T>C (p.Leu124Pro) rs386833814 0.00002
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe) rs375329908 0.00002
NM_004006.3(DMD):c.4427T>C (p.Met1476Thr) rs371646182 0.00002
NM_004006.3(DMD):c.4604C>T (p.Thr1535Met) rs1431604157 0.00002
NM_004006.3(DMD):c.9695G>A (p.Arg3232His) rs751095907 0.00002
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr) rs770931871 0.00002
NM_004100.5(EYA4):c.-14A>G rs760845191 0.00002
NM_004100.5(EYA4):c.1107+10C>G rs752586864 0.00002
NM_004100.5(EYA4):c.704C>T (p.Pro235Leu) rs765608642 0.00002
NM_004304.5(ALK):c.2569C>T (p.His857Tyr) rs754393402 0.00002
NM_004320.6(ATP2A1):c.971G>A (p.Arg324His) rs751166692 0.00002
NM_004329.3(BMPR1A):c.-8A>G rs546681014 0.00002
NM_004329.3(BMPR1A):c.1333A>G (p.Ile445Val) rs587781503 0.00002
NM_004329.3(BMPR1A):c.560G>A (p.Arg187His) rs189059377 0.00002
NM_004333.6(BRAF):c.*7T>C rs727502903 0.00002
NM_004341.5(CAD):c.5014G>A (p.Ala1672Thr) rs369531964 0.00002
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln) rs373364873 0.00002
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) rs587782359 0.00002
NM_004360.5(CDH1):c.1178T>A (p.Ile393Asn) rs34466743 0.00002
NM_004360.5(CDH1):c.1423G>A (p.Val475Met) rs587782113 0.00002
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met) rs746481984 0.00002
NM_004360.5(CDH1):c.2254G>A (p.Val752Ile) rs587781351 0.00002
NM_004360.5(CDH1):c.2600A>G (p.Asn867Ser) rs587782623 0.00002
NM_004360.5(CDH1):c.388-8C>T rs774601444 0.00002
NM_004360.5(CDH1):c.406C>A (p.Gln136Lys) rs753886948 0.00002
NM_004360.5(CDH1):c.531+3A>G rs766563354 0.00002
NM_004360.5(CDH1):c.845T>C (p.Met282Thr) rs730881652 0.00002
NM_004370.6(COL12A1):c.1741C>T (p.Arg581Cys) rs764727126 0.00002
NM_004415.4(DSP):c.2675G>A (p.Arg892His) rs758592774 0.00002
NM_004415.4(DSP):c.384G>A (p.Met128Ile) rs930440897 0.00002
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582 0.00002
NM_004415.4(DSP):c.4610G>A (p.Arg1537His) rs762135558 0.00002
NM_004415.4(DSP):c.6345G>T (p.Leu2115Phe) rs766950975 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004453.4(ETFDH):c.1732C>T (p.Arg578Trp) rs763912783 0.00002
NM_004525.3(LRP2):c.13847C>T (p.Ser4616Leu) rs140802648 0.00002
NM_004525.3(LRP2):c.8141C>T (p.Ser2714Leu) rs774369141 0.00002
NM_004612.4(TGFBR1):c.199C>T (p.His67Tyr) rs766157497 0.00002
NM_004612.4(TGFBR1):c.503G>A (p.Arg168His) rs777965779 0.00002
NM_004646.4(NPHS1):c.-3G>A rs1039683723 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_004655.4(AXIN2):c.1384C>T (p.Pro462Ser) rs1060502156 0.00002
NM_004722.4(AP4M1):c.1346A>G (p.Tyr449Cys) rs754456635 0.00002
NM_004733.4(SLC33A1):c.763G>A (p.Val255Ile) rs1173522838 0.00002
NM_004984.4(KIF5A):c.1222C>T (p.Arg408Cys) rs767181570 0.00002
NM_004984.4(KIF5A):c.2134C>T (p.Arg712Trp) rs779614400 0.00002
NM_004990.4(MARS1):c.277C>T (p.Gln93Ter) rs958058841 0.00002
NM_005045.4(RELN):c.10019C>T (p.Ser3340Leu) rs1469215547 0.00002
NM_005045.4(RELN):c.3287A>G (p.Gln1096Arg) rs780325204 0.00002
NM_005051.3(QARS1):c.1570C>T (p.Arg524Trp) rs774980346 0.00002
NM_005097.4(LGI1):c.1316C>T (p.Ser439Leu) rs143808356 0.00002
NM_005120.3(MED12):c.204+7C>T rs776275934 0.00002
NM_005120.3(MED12):c.5476C>T (p.Pro1826Ser) rs867576281 0.00002
NM_005120.3(MED12):c.5893C>T (p.Pro1965Ser) rs2092336419 0.00002
NM_005188.4(CBL):c.1563+16T>G rs767609973 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.195+14T>G rs1011872703 0.00002
NM_005188.4(CBL):c.2153G>A (p.Arg718Gln) rs144894769 0.00002
NM_005188.4(CBL):c.2287G>A (p.Gly763Ser) rs1454216416 0.00002
NM_005188.4(CBL):c.664A>C (p.Met222Leu) rs773611782 0.00002
NM_005199.5(CHRNG):c.199G>A (p.Glu67Lys) rs544552194 0.00002
NM_005219.5(DIAPH1):c.3097G>A (p.Asp1033Asn) rs1303934222 0.00002
NM_005343.4(HRAS):c.450+17C>T rs367869009 0.00002
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg) rs866841518 0.00002
NM_005476.7(GNE):c.2005G>A (p.Gly669Arg) rs776384541 0.00002
NM_005502.4(ABCA1):c.1912C>T (p.Arg638Trp) rs199571829 0.00002
NM_005502.4(ABCA1):c.4050+8G>A rs371581830 0.00002
NM_005591.4(MRE11):c.1139G>A (p.Arg380His) rs587781646 0.00002
NM_005591.4(MRE11):c.1501-4C>G rs377584386 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_005609.4(PYGM):c.1804C>T (p.Arg602Trp) rs750195683 0.00002
NM_005618.4(DLL1):c.1822G>A (p.Gly608Arg) rs771135690 0.00002
NM_005629.4(SLC6A8):c.833G>A (p.Arg278His) rs782802482 0.00002
NM_005633.4(SOS1):c.2062C>A (p.Arg688=) rs186246534 0.00002
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val) rs56248239 0.00002
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471 0.00002
NM_005676.5(RBM10):c.457G>A (p.Gly153Ser) rs1198280152 0.00002
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly) rs779232513 0.00002
NM_005751.5(AKAP9):c.48+5G>A rs377559019 0.00002
NM_005751.5(AKAP9):c.5581A>G (p.Ile1861Val) rs778877483 0.00002
NM_005902.4(SMAD3):c.400+5G>T rs766829176 0.00002
NM_005984.5(SLC25A1):c.737C>A (p.Thr246Asn) rs2083964037 0.00002
NM_006013.5(RPL10):c.484C>T (p.Arg162Cys) rs372041364 0.00002
NM_006059.4(LAMC3):c.4159G>A (p.Ala1387Thr) rs769688460 0.00002
NM_006231.4(POLE):c.6605C>T (p.Thr2202Met) rs764457707 0.00002
NM_006258.4(PRKG1):c.478+5G>A rs763059343 0.00002
NM_006270.5(RRAS):c.10G>T (p.Gly4Trp) rs2081015843 0.00002
NM_006270.5(RRAS):c.454-19G>A rs776793181 0.00002
NM_006270.5(RRAS):c.627G>T (p.Lys209Asn) rs771557284 0.00002
NM_006306.4(SMC1A):c.1546-5C>T rs1556889651 0.00002
NM_006361.6(HOXB13):c.215G>T (p.Gly72Val) rs774579054 0.00002
NM_006393.3(NEBL):c.2044C>T (p.Gln682Ter) rs763512999 0.00002
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser) rs796053245 0.00002
NM_006767.4(LZTR1):c.1085G>A (p.Arg362Gln) rs745476291 0.00002
NM_006767.4(LZTR1):c.1175C>T (p.Ala392Val) rs767354230 0.00002
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp) rs141161152 0.00002
NM_006767.4(LZTR1):c.2326-6T>C rs199965510 0.00002
NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu) rs756852884 0.00002
NM_006772.3(SYNGAP1):c.1677-4C>G rs538524761 0.00002
NM_006772.3(SYNGAP1):c.3172G>A (p.Gly1058Ser) rs767071930 0.00002
NM_006892.4(DNMT3B):c.1297+6G>A rs755091404 0.00002
NM_006915.3(RP2):c.481G>T (p.Asp161Tyr) rs150333404 0.00002
NM_006939.4(SOS2):c.1156G>C (p.Asp386His) rs776909576 0.00002
NM_006939.4(SOS2):c.2347G>T (p.Ala783Ser) rs774498876 0.00002
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu) rs752525400 0.00002
NM_006946.4(SPTBN2):c.1844G>A (p.Arg615Gln) rs768742849 0.00002
NM_006949.4(STXBP2):c.1190C>T (p.Ala397Val) rs1309026455 0.00002
NM_007055.4(POLR3A):c.2521G>A (p.Gly841Ser) rs192332506 0.00002
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val) rs373073383 0.00002
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln) rs373959274 0.00002
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr) rs371657037 0.00002
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp) rs751653049 0.00002
NM_007194.4(CHEK2):c.295C>T (p.Leu99Phe) rs537051622 0.00002
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His) rs781254437 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007194.4(CHEK2):c.608A>G (p.Asp203Gly) rs587782813 0.00002
NM_007194.4(CHEK2):c.931G>A (p.Asp311Asn) rs587782347 0.00002
NM_007259.5(VPS45):c.1371+5A>G rs369221126 0.00002
NM_007294.4(BRCA1):c.*20C>T rs375042815 0.00002
NM_007294.4(BRCA1):c.1259A>G (p.Asp420Gly) rs730881442 0.00002
NM_007294.4(BRCA1):c.1342C>T (p.His448Tyr) rs786203578 0.00002
NM_007294.4(BRCA1):c.1361G>A (p.Ser454Asn) rs80357181 0.00002
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895 0.00002
NM_007294.4(BRCA1):c.2008G>A (p.Glu670Lys) rs80357029 0.00002
NM_007294.4(BRCA1):c.2060A>C (p.Gln687Pro) rs28897680 0.00002
NM_007294.4(BRCA1):c.2263G>A (p.Glu755Lys) rs41286296 0.00002
NM_007294.4(BRCA1):c.2897T>C (p.Ile966Thr) rs879254045 0.00002
NM_007294.4(BRCA1):c.3815A>G (p.Asn1272Ser) rs772703445 0.00002
NM_007294.4(BRCA1):c.5128G>A (p.Gly1710Arg) rs397509229 0.00002
NM_007294.4(BRCA1):c.5429T>C (p.Val1810Ala) rs80357451 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_007294.4(BRCA1):c.733G>T (p.Asp245Tyr) rs147519994 0.00002
NM_007294.4(BRCA1):c.994C>T (p.Arg332Trp) rs80357176 0.00002
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala) rs779218281 0.00002
NM_012310.5(KIF4A):c.2183G>A (p.Arg728Gln) rs199529123 0.00002
NM_012464.5(TLL1):c.3017C>T (p.Pro1006Leu) rs996415364 0.00002
NM_013339.4(ALG6):c.53G>A (p.Arg18Gln) rs1287725303 0.00002
NM_013339.4(ALG6):c.839G>A (p.Cys280Tyr) rs756608021 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_013382.7(POMT2):c.796G>A (p.Gly266Arg) rs761773211 0.00002
NM_013975.4(LIG3):c.446G>A (p.Arg149Gln) rs772050625 0.00002
NM_014159.7(SETD2):c.4804A>G (p.Ile1602Val) rs374749926 0.00002
NM_014332.3(SMPX):c.139C>T (p.Pro47Ser) rs750405885 0.00002
NM_014467.3(SRPX2):c.961+1G>A rs1303998333 0.00002
NM_014625.4(NPHS2):c.622G>A (p.Ala208Thr) rs200587413 0.00002
NM_014639.4(SKIC3):c.2703A>T (p.Gln901His) rs201479762 0.00002
NM_014639.4(SKIC3):c.3637G>A (p.Gly1213Arg) rs763389035 0.00002
NM_014694.4(ADAMTSL2):c.1213G>A (p.Glu405Lys) rs983037163 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014915.3(ANKRD26):c.1153A>G (p.Thr385Ala) rs375318218 0.00002
NM_015046.7(SETX):c.2921T>C (p.Ile974Thr) rs765768857 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015404.4(WHRN):c.2234G>A (p.Arg745His) rs555619169 0.00002
NM_015474.4(SAMHD1):c.2T>C (p.Met1Thr) rs923362391 0.00002
NM_015474.4(SAMHD1):c.841G>A (p.Glu281Lys) rs747675634 0.00002
NM_015506.3(MMACHC):c.800G>A (p.Arg267Gln) rs765822392 0.00002
NM_015627.3(LDLRAP1):c.710C>T (p.Pro237Leu) rs746229586 0.00002
NM_015631.6(TCTN3):c.1087C>T (p.Arg363Cys) rs777277759 0.00002
NM_016151.4(TAOK2):c.2078G>A (p.Arg693Gln) rs755472068 0.00002
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr) rs377603922 0.00002
NM_016203.4(PRKAG2):c.685-5C>A rs779931367 0.00002
NM_016553.5(NUP62):c.811A>T (p.Thr271Ser) rs763897777 0.00002
NM_016599.5(MYOZ2):c.76+8T>C rs773231367 0.00002
NM_016604.4(KDM3B):c.3203C>G (p.Thr1068Arg) rs150418257 0.00002
NM_016938.5(EFEMP2):c.1016A>T (p.Gln339Leu) rs754118526 0.00002
NM_016938.5(EFEMP2):c.368-5C>T rs201248112 0.00002
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu) rs756174213 0.00002
NM_017617.5(NOTCH1):c.3900C>T (p.Thr1300=) rs201791826 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe) rs765839822 0.00002
NM_017721.5(CC2D1A):c.2146C>T (p.Leu716Phe) rs770391486 0.00002
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser) rs200863680 0.00002
NM_017777.4(MKS1):c.1678T>C (p.Ter560Gln) rs1286667377 0.00002
NM_017866.6(TMEM70):c.590A>T (p.Gln197Leu) rs760235714 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_018076.5(ODAD2):c.844G>A (p.Val282Ile) rs191594899 0.00002
NM_018418.5(SPATA7):c.1100A>G (p.Tyr367Cys) rs768788013 0.00002
NM_018418.5(SPATA7):c.94+5G>A rs371618316 0.00002
NM_018444.4(PDP1):c.1589T>C (p.Val530Ala) rs1388317775 0.00002
NM_019112.4(ABCA7):c.2929G>A (p.Gly977Ser) rs758004382 0.00002
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His) rs758951947 0.00002
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile) rs750331066 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_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_020366.4(RPGRIP1):c.2618A>G (p.His873Arg) rs573418252 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu) rs368377980 0.00002
NM_020533.3(MCOLN1):c.497G>T (p.Cys166Phe) rs797044826 0.00002
NM_020549.5(CHAT):c.1300G>A (p.Gly434Ser) rs115964813 0.00002
NM_020708.5(SLC12A5):c.2876C>T (p.Thr959Met) rs759314815 0.00002
NM_020822.3(KCNT1):c.2199G>T (p.Glu733Asp) rs772800657 0.00002
NM_020975.6(RET):c.134C>T (p.Ala45Val) rs763526874 0.00002
NM_020975.6(RET):c.2041C>G (p.Gln681Glu) rs567241943 0.00002
NM_020975.6(RET):c.3233C>T (p.Thr1078Met) rs762952212 0.00002
NM_020975.6(RET):c.625+10G>A rs371974705 0.00002
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser) rs377664706 0.00002
NM_021939.4(FKBP10):c.1549G>T (p.Val517Phe) rs112668233 0.00002
NM_021942.6(TRAPPC11):c.829A>G (p.Lys277Glu) rs368689327 0.00002
NM_022089.4(ATP13A2):c.1321A>T (p.Ile441Phe) rs772446950 0.00002
NM_022089.4(ATP13A2):c.490C>T (p.Arg164Trp) rs199624796 0.00002
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn) rs770665588 0.00002
NM_022132.5(MCCC2):c.1549G>A (p.Gly517Arg) rs979584886 0.00002
NM_024312.5(GNPTAB):c.2354T>G (p.Leu785Trp) rs144060383 0.00002
NM_024334.3(TMEM43):c.1000+5G>T rs376589026 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) rs758139447 0.00002
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) rs193922709 0.00002
NM_024665.7(TBL1XR1):c.356G>C (p.Ser119Thr) rs756214140 0.00002
NM_024665.7(TBL1XR1):c.961A>G (p.Thr321Ala) rs753108357 0.00002
NM_024675.4(PALB2):c.1594C>T (p.Pro532Ser) rs763007754 0.00002
NM_024675.4(PALB2):c.2417C>T (p.Pro806Leu) rs45464991 0.00002
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly) rs369132015 0.00002
NM_024675.4(PALB2):c.2989G>T (p.Asp997Tyr) rs1555459513 0.00002
NM_024747.6(HPS6):c.1816C>T (p.Arg606Cys) rs200618225 0.00002
NM_024809.5(TCTN2):c.1813G>A (p.Glu605Lys) rs768079186 0.00002
NM_025215.6(PUS1):c.127C>T (p.Pro43Ser) rs928144275 0.00002
NM_025243.4(SLC19A3):c.607C>T (p.Pro203Ser) rs767146802 0.00002
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys) rs760322583 0.00002
NM_030662.4(MAP2K2):c.449T>C (p.Met150Thr) rs1441349097 0.00002
NM_030662.4(MAP2K2):c.450+14G>A rs397517414 0.00002
NM_030662.4(MAP2K2):c.491G>T (p.Arg164Met) rs751317148 0.00002
NM_030662.4(MAP2K2):c.529-10T>C rs551098822 0.00002
NM_031407.7(HUWE1):c.6149G>A (p.Arg2050Gln) rs782428636 0.00002
NM_031407.7(HUWE1):c.7204+12G>A rs782423789 0.00002
NM_032043.3(BRIP1):c.1246C>T (p.Arg416Trp) rs587780225 0.00002
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met) rs28997572 0.00002
NM_032043.3(BRIP1):c.3188C>T (p.Ser1063Leu) rs575998972 0.00002
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn) rs587781923 0.00002
NM_032043.3(BRIP1):c.3331G>C (p.Glu1111Gln) rs587780248 0.00002
NM_032043.3(BRIP1):c.386C>T (p.Pro129Leu) rs587780831 0.00002
NM_032043.3(BRIP1):c.394A>T (p.Thr132Ser) rs730881623 0.00002
NM_032043.3(BRIP1):c.617C>T (p.Ser206Leu) rs565458815 0.00002
NM_032043.3(BRIP1):c.638A>G (p.His213Arg) rs376760085 0.00002
NM_032043.3(BRIP1):c.791G>A (p.Arg264Gln) rs758360637 0.00002
NM_032043.3(BRIP1):c.797C>T (p.Thr266Met) rs550031006 0.00002
NM_032043.3(BRIP1):c.820A>G (p.Thr274Ala) rs62620988 0.00002
NM_032888.4(COL27A1):c.295G>A (p.Ala99Thr) rs748194962 0.00002
NM_033109.5(PNPT1):c.251C>T (p.Ala84Val) rs145552327 0.00002
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp) rs730880422 0.00002
NM_033360.4(KRAS):c.389C>T (p.Ala130Val) rs730880473 0.00002
NM_033629.6(TREX1):c.383G>A (p.Arg128His) rs751124579 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_053025.4(MYLK):c.4540A>G (p.Asn1514Asp) rs2059054614 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.705+10A>G rs377586976 0.00002
NM_058216.3(RAD51C):c.746G>A (p.Arg249His) rs730881925 0.00002
NM_058246.4(DNAJB6):c.791G>A (p.Arg264Gln) rs969715884 0.00002
NM_080873.3(ASB11):c.871T>C (p.Cys291Arg) rs772919113 0.00002
NM_130837.3(OPA1):c.2962G>A (p.Val988Ile) rs375733283 0.00002
NM_130837.3(OPA1):c.838A>G (p.Thr280Ala) rs774668971 0.00002
NM_133259.4(LRPPRC):c.3350G>A (p.Arg1117Gln) rs369972045 0.00002
NM_133433.4(NIPBL):c.6988C>G (p.Pro2330Ala) rs764147606 0.00002
NM_138694.4(PKHD1):c.11310+19C>T rs767496904 0.00002
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe) rs367970695 0.00002
NM_138694.4(PKHD1):c.6097A>G (p.Arg2033Gly) rs369626030 0.00002
NM_138694.4(PKHD1):c.7964A>C (p.His2655Pro) rs748196998 0.00002
NM_139076.3(ABRAXAS1):c.662C>T (p.Ser221Leu) rs1415231112 0.00002
NM_139076.3(ABRAXAS1):c.82G>C (p.Asp28His) rs1262474994 0.00002
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn) rs368024371 0.00002
NM_144670.6(A2ML1):c.2010C>A (p.Asp670Glu) rs763091079 0.00002
NM_144670.6(A2ML1):c.2117G>A (p.Gly706Asp) rs772497821 0.00002
NM_144670.6(A2ML1):c.2276C>T (p.Ala759Val) rs774472456 0.00002
NM_144670.6(A2ML1):c.269C>T (p.Thr90Ile) rs369174815 0.00002
NM_144670.6(A2ML1):c.2765-18T>A rs759540195 0.00002
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=) rs201335448 0.00002
NM_144670.6(A2ML1):c.3933+4A>G rs779680238 0.00002
NM_144670.6(A2ML1):c.409+1G>A rs1454374124 0.00002
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val) rs775772721 0.00002
NM_148897.3(SDR9C7):c.1A>G (p.Met1Val) rs749359344 0.00002
NM_152594.3(SPRED1):c.1282C>T (p.Arg428Cys) rs941091989 0.00002
NM_152594.3(SPRED1):c.182G>A (p.Arg61His) rs750686148 0.00002
NM_153033.5(KCTD7):c.614C>T (p.Pro205Leu) rs151338966 0.00002
NM_153676.4(USH1C):c.266G>A (p.Arg89His) rs749647539 0.00002
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) rs781383498 0.00002
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys) rs373584456 0.00002
NM_170707.4(LMNA):c.1318G>A (p.Val440Met) rs121912493 0.00002
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys) rs777841827 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 0.00002
NM_173483.4(CYP4F22):c.-1-1G>A rs200464692 0.00002
NM_174878.3(CLRN1):c.571G>A (p.Val191Ile) rs777257033 0.00002
NM_174934.4(SCN4B):c.594-2A>G rs375535030 0.00002
NM_174936.4(PCSK9):c.1070G>A (p.Arg357His) rs370507566 0.00002
NM_174936.4(PCSK9):c.2003G>T (p.Ser668Ile) rs1235101437 0.00002
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser) rs1063239 0.00002
NM_176787.5(PIGN):c.787C>A (p.His263Asn) rs376934090 0.00002
NM_176824.3(BBS7):c.442A>C (p.Asn148His) rs982037757 0.00002
NM_182961.4(SYNE1):c.13181T>G (p.Leu4394Arg) rs763501028 0.00002
NM_182961.4(SYNE1):c.14335G>T (p.Ala4779Ser) rs368490158 0.00002
NM_182961.4(SYNE1):c.18972+4T>C rs774096623 0.00002
NM_183050.4(BCKDHB):c.79C>T (p.Pro27Ser) rs955755199 0.00002
NM_194248.3(OTOF):c.5815C>T (p.Arg1939Trp) rs368790049 0.00002
NM_198129.4(LAMA3):c.8192C>T (p.Thr2731Met) rs776754771 0.00002
NM_198252.3(GSN):c.1870A>G (p.Lys624Glu) rs756053203 0.00002
NM_198407.2(GHSR):c.847C>T (p.Arg283Ter) rs148371213 0.00002
NM_198578.4(LRRK2):c.3026A>C (p.His1009Pro) rs375146075 0.00002
NM_198578.4(LRRK2):c.4894G>C (p.Glu1632Gln) rs200580973 0.00002
NM_198681.4(PLEKHG5):c.-195C>T rs534044053 0.00002
NM_198994.3(TGM6):c.1337-15T>C rs754392096 0.00002
NM_199242.3(UNC13D):c.1056-8C>T rs766550767 0.00002
NM_199242.3(UNC13D):c.1933C>T (p.Arg645Trp) rs768266670 0.00002
NM_201253.3(CRB1):c.2752A>T (p.Ser918Cys) rs776426313 0.00002
NM_203447.4(DOCK8):c.2381T>C (p.Leu794Pro) rs769117348 0.00002
NM_203447.4(DOCK8):c.3254A>G (p.Asn1085Ser) rs527474230 0.00002
NM_206933.4(USH2A):c.2653C>T (p.His885Tyr) rs746071929 0.00002
NM_206933.4(USH2A):c.6800C>T (p.Pro2267Leu) rs397518027 0.00002
NM_207361.6(FREM2):c.6416G>T (p.Gly2139Val) rs371458568 0.00002
NR_003051.4(RMRP):n.16G>T rs902313238 0.00002
NM_000016.6(ACADM):c.1115C>A (p.Ala372Asp) rs781424858 0.00001
NM_000016.6(ACADM):c.1238G>A (p.Arg413His) rs1337929727 0.00001
NM_000016.6(ACADM):c.92G>A (p.Arg31His) rs529894272 0.00001
NM_000017.4(ACADS):c.460C>T (p.Leu154Phe) rs368500899 0.00001
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) rs1351976589 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg) rs370282954 0.00001
NM_000018.4(ACADVL):c.1678+4A>T rs1057518417 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.628A>C (p.Thr210Pro) rs775400380 0.00001
NM_000018.4(ACADVL):c.725C>T (p.Thr242Ile) rs769631635 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.950T>C (p.Val317Ala) rs398123095 0.00001
NM_000019.4(ACAT1):c.433C>G (p.Gln145Glu) rs120074148 0.00001
NM_000022.4(ADA):c.539T>C (p.Ile180Thr) rs1421855638 0.00001
NM_000022.4(ADA):c.778G>A (p.Glu260Lys) rs1235719506 0.00001
NM_000022.4(ADA):c.88T>C (p.Tyr30His) rs775324175 0.00001
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) rs1046633404 0.00001
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg) rs1569541033 0.00001
NM_000033.4(ABCD1):c.1991+8C>T rs2091774199 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp) rs41281039 0.00001
NM_000038.6(APC):c.1110G>A (p.Leu370=) rs1439967202 0.00001
NM_000038.6(APC):c.1286C>T (p.Pro429Leu) rs1003390887 0.00001
NM_000038.6(APC):c.1290C>T (p.Gly430=) rs730881234 0.00001
NM_000038.6(APC):c.1291A>G (p.Met431Val) rs730881235 0.00001
NM_000038.6(APC):c.1321C>A (p.Pro441Thr) rs1444245614 0.00001
NM_000038.6(APC):c.1441G>A (p.Val481Met) rs587780542 0.00001
NM_000038.6(APC):c.1478A>G (p.Tyr493Cys) rs770649674 0.00001
NM_000038.6(APC):c.1483A>G (p.Ile495Val) rs372047677 0.00001
NM_000038.6(APC):c.1580G>C (p.Arg527Thr) rs1554081889 0.00001
NM_000038.6(APC):c.1691G>A (p.Arg564Gln) rs747418061 0.00001
NM_000038.6(APC):c.1811C>G (p.Ala604Gly) rs370955311 0.00001
NM_000038.6(APC):c.1895T>C (p.Ile632Thr) rs587781360 0.00001
NM_000038.6(APC):c.212G>A (p.Arg71His) rs750503329 0.00001
NM_000038.6(APC):c.2414G>A (p.Arg805Gln) rs200593940 0.00001
NM_000038.6(APC):c.2474A>G (p.Tyr825Cys) rs186641437 0.00001
NM_000038.6(APC):c.2545G>A (p.Asp849Asn) rs752193945 0.00001
NM_000038.6(APC):c.262C>T (p.Arg88Trp) rs746592911 0.00001
NM_000038.6(APC):c.2677G>A (p.Glu893Lys) rs199740875 0.00001
NM_000038.6(APC):c.268A>G (p.Lys90Glu) rs763184444 0.00001
NM_000038.6(APC):c.2942C>G (p.Pro981Arg) rs587779784 0.00001
NM_000038.6(APC):c.3128C>T (p.Pro1043Leu) rs1030285956 0.00001
NM_000038.6(APC):c.3161A>C (p.His1054Pro) rs777538550 0.00001
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser) rs151286353 0.00001
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln) rs201550951 0.00001
NM_000038.6(APC):c.343A>G (p.Met115Val) rs1060503276 0.00001
NM_000038.6(APC):c.3653C>T (p.Thr1218Met) rs377640390 0.00001
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn) rs778699501 0.00001
NM_000038.6(APC):c.4594G>A (p.Asp1532Asn) rs730881251 0.00001
NM_000038.6(APC):c.468C>G (p.Asp156Glu) rs752627126 0.00001
NM_000038.6(APC):c.4898C>T (p.Thr1633Ile) rs765215625 0.00001
NM_000038.6(APC):c.5194A>G (p.Met1732Val) rs752065261 0.00001
NM_000038.6(APC):c.5365G>C (p.Val1789Leu) rs1554086666 0.00001
NM_000038.6(APC):c.5386A>G (p.Lys1796Glu) rs367577259 0.00001
NM_000038.6(APC):c.5759G>A (p.Arg1920Gln) rs587780599 0.00001
NM_000038.6(APC):c.5866A>G (p.Ile1956Val) rs749597014 0.00001
NM_000038.6(APC):c.5918G>A (p.Ser1973Asn) rs4987109 0.00001
NM_000038.6(APC):c.5987A>T (p.Gln1996Leu) rs587779802 0.00001
NM_000038.6(APC):c.6127A>G (p.Ile2043Val) rs876660233 0.00001
NM_000038.6(APC):c.6196A>G (p.Arg2066Gly) rs786204043 0.00001
NM_000038.6(APC):c.6203T>C (p.Met2068Thr) rs863224547 0.00001
NM_000038.6(APC):c.6446A>C (p.His2149Pro) rs749230730 0.00001
NM_000038.6(APC):c.646-8T>A rs879254149 0.00001
NM_000038.6(APC):c.6491G>C (p.Gly2164Ala) rs1490726940 0.00001
NM_000038.6(APC):c.6640A>G (p.Lys2214Glu) rs1055951639 0.00001
NM_000038.6(APC):c.6658A>G (p.Asn2220Asp) rs374464049 0.00001
NM_000038.6(APC):c.6674C>G (p.Ser2225Cys) rs759307079 0.00001
NM_000038.6(APC):c.6700C>T (p.Pro2234Ser) rs749507584 0.00001
NM_000038.6(APC):c.688C>T (p.Arg230Cys) rs587779805 0.00001
NM_000038.6(APC):c.6896C>T (p.Pro2299Leu) rs876658800 0.00001
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) rs1057517549 0.00001
NM_000038.6(APC):c.7012C>T (p.Pro2338Ser) rs571304880 0.00001
NM_000038.6(APC):c.730-9T>A rs780218375 0.00001
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp) rs587782127 0.00001
NM_000038.6(APC):c.7478T>C (p.Leu2493Pro) rs769889352 0.00001
NM_000038.6(APC):c.749A>G (p.His250Arg) rs774296531 0.00001
NM_000038.6(APC):c.764A>G (p.His255Arg) rs530670052 0.00001
NM_000038.6(APC):c.7654A>T (p.Ser2552Cys) rs1554088567 0.00001
NM_000038.6(APC):c.775C>T (p.Arg259Trp) rs762117133 0.00001
NM_000038.6(APC):c.7793C>A (p.Thr2598Asn) rs747339588 0.00001
NM_000038.6(APC):c.7822G>A (p.Ala2608Thr) rs878853471 0.00001
NM_000038.6(APC):c.7877C>T (p.Thr2626Ile) rs730881268 0.00001
NM_000038.6(APC):c.8057T>C (p.Val2686Ala) rs757901425 0.00001
NM_000038.6(APC):c.8182G>A (p.Val2728Met) rs587778045 0.00001
NM_000038.6(APC):c.8213T>C (p.Ile2738Thr) rs863224552 0.00001
NM_000038.6(APC):c.8276G>A (p.Arg2759His) rs538289470 0.00001
NM_000038.6(APC):c.8378G>A (p.Ser2793Asn) rs374853436 0.00001
NM_000038.6(APC):c.8390G>A (p.Ser2797Asn) rs1060503339 0.00001
NM_000038.6(APC):c.918T>G (p.Ser306Arg) rs730881231 0.00001
NM_000038.6(APC):c.989T>C (p.Met330Thr) rs1554079959 0.00001
NM_000039.3(APOA1):c.275C>T (p.Thr92Ile) rs766422306 0.00001
NM_000044.6(AR):c.1175C>G (p.Pro392Arg) rs773996740 0.00001
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr) rs1247117898 0.00001
NM_000048.4(ASL):c.1124A>G (p.Tyr375Cys) rs886062406 0.00001
NM_000048.4(ASL):c.1141G>C (p.Gly381Arg) rs1301059768 0.00001
NM_000048.4(ASL):c.1204G>T (p.Gly402Trp) rs727503812 0.00001
NM_000049.4(ASPA):c.432G>A (p.Lys144=) rs754087904 0.00001
NM_000049.4(ASPA):c.637A>G (p.Lys213Glu) rs528179434 0.00001
NM_000049.4(ASPA):c.770C>G (p.Pro257Arg) rs377217076 0.00001
NM_000051.4(ATM):c.1021G>A (p.Val341Ile) rs200601781 0.00001
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly) rs587779811 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys) rs750280306 0.00001
NM_000051.4(ATM):c.1688T>G (p.Met563Arg) rs750815208 0.00001
NM_000051.4(ATM):c.1741T>G (p.Leu581Val) rs876659822 0.00001
NM_000051.4(ATM):c.1814A>G (p.His605Arg) rs771877351 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.185+10T>C rs1555054317 0.00001
NM_000051.4(ATM):c.185+8A>G rs753891198 0.00001
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys) rs546087885 0.00001
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg) rs772393149 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2168T>C (p.Val723Ala) rs745399310 0.00001
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys) rs3205809 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys) rs587778065 0.00001
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu) rs587781583 0.00001
NM_000051.4(ATM):c.241A>G (p.Asn81Asp) rs758962678 0.00001
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys) rs1060501648 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.2635A>G (p.Ile879Val) rs556598169 0.00001
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe) rs730881351 0.00001
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe) rs775371838 0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val) rs864622758 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2889G>A (p.Met963Ile) rs35098825 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.3017T>C (p.Met1006Thr) rs1421074475 0.00001
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu) rs971770683 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00001
NM_000051.4(ATM):c.3284+7G>C rs371629629 0.00001
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr) rs147112946 0.00001
NM_000051.4(ATM):c.3388G>A (p.Gly1130Arg) rs587781911 0.00001
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu) rs567344545 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys) rs760928285 0.00001
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro) rs183532834 0.00001
NM_000051.4(ATM):c.37C>T (p.Arg13Cys) rs141586345 0.00001
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe) rs2082378278 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe) rs587778074 0.00001
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys) rs1424433891 0.00001
NM_000051.4(ATM):c.400G>A (p.Gly134Ser) rs2234998 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.4109+10T>C rs1236628481 0.00001
NM_000051.4(ATM):c.4110-9C>A rs730881367 0.00001
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu) rs1064794484 0.00001
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622 0.00001
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys) rs754181173 0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362 0.00001
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys) rs587782037 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu) rs786203857 0.00001
NM_000051.4(ATM):c.488A>G (p.Gln163Arg) rs876660598 0.00001
NM_000051.4(ATM):c.4909+3G>A rs778685122 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn) rs748900588 0.00001
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe) rs764784077 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln) rs587782236 0.00001
NM_000051.4(ATM):c.5674+6C>G rs780204400 0.00001
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu) rs765027485 0.00001
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr) rs377289524 0.00001
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu) rs1060501652 0.00001
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His) rs199586999 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu) rs1486220915 0.00001
NM_000051.4(ATM):c.6121A>G (p.Met2041Val) rs759753186 0.00001
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val) rs755973863 0.00001
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro) rs587779854 0.00001
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe) rs730881380 0.00001
NM_000051.4(ATM):c.6332A>G (p.His2111Arg) rs876658300 0.00001
NM_000051.4(ATM):c.640T>C (p.Ser214Pro) rs747053710 0.00001
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys) rs768155385 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.663-8C>A rs1060501661 0.00001
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg) rs749261367 0.00001
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met) rs876658607 0.00001
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn) rs1060501602 0.00001
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro) rs587781674 0.00001
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu) rs756898113 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys) rs1305313302 0.00001
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp) rs376159946 0.00001
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val) rs778888033 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7382G>A (p.Arg2461His) rs768461085 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr) rs940285361 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.7788+7G>A rs749610251 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 0.00001
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala) rs745775382 0.00001
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg) rs766730487 0.00001
NM_000051.4(ATM):c.8231A>C (p.Glu2744Ala) rs764003317 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser) rs1010206130 0.00001
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His) rs1020805015 0.00001
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu) rs938431501 0.00001
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val) rs756230327 0.00001
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp) rs748192003 0.00001
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile) rs587780643 0.00001
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala) rs587782149 0.00001
NM_000051.4(ATM):c.8848G>A (p.Glu2950Lys) rs898091069 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met) rs373634671 0.00001
NM_000053.4(ATP7B):c.1142T>G (p.Ile381Ser) rs766943890 0.00001
NM_000053.4(ATP7B):c.1168A>G (p.Ile390Val) rs770903362 0.00001
NM_000053.4(ATP7B):c.2138A>G (p.Tyr713Cys) rs756883878 0.00001
NM_000053.4(ATP7B):c.2858A>C (p.Tyr953Ser) rs767877891 0.00001
NM_000053.4(ATP7B):c.3109C>T (p.Pro1037Ser) rs750891085 0.00001
NM_000053.4(ATP7B):c.3637G>A (p.Gly1213Ser) rs745918596 0.00001
NM_000053.4(ATP7B):c.3700G>T (p.Val1234Phe) rs193922108 0.00001
NM_000053.4(ATP7B):c.3863C>T (p.Thr1288Met) rs373748155 0.00001
NM_000053.4(ATP7B):c.470G>T (p.Cys157Phe) rs551275663 0.00001
NM_000055.4(BCHE):c.884A>G (p.Lys295Arg) rs115624085 0.00001
NM_000057.4(BLM):c.1474T>C (p.Phe492Leu) rs764182382 0.00001
NM_000057.4(BLM):c.2490G>A (p.Thr830=) rs765233032 0.00001
NM_000057.4(BLM):c.2551C>G (p.Gln851Glu) rs767638712 0.00001
NM_000057.4(BLM):c.3021G>A (p.Met1007Ile) rs1244649224 0.00001
NM_000057.4(BLM):c.3451C>T (p.Leu1151Phe) rs1469527799 0.00001
NM_000057.4(BLM):c.44G>A (p.Arg15His) rs752755503 0.00001
NM_000059.4(BRCA2):c.10024G>A (p.Glu3342Lys) rs28897761 0.00001
NM_000059.4(BRCA2):c.1002T>G (p.His334Gln) rs544942885 0.00001
NM_000059.4(BRCA2):c.10070C>T (p.Thr3357Ile) rs80358388 0.00001
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389 0.00001
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_000059.4(BRCA2):c.10238C>A (p.Thr3413Lys) rs730881584 0.00001
NM_000059.4(BRCA2):c.10249T>C (p.Tyr3417His) rs535952730 0.00001
NM_000059.4(BRCA2):c.1054T>C (p.Tyr352His) rs542343726 0.00001
NM_000059.4(BRCA2):c.107C>T (p.Ser36Phe) rs730881554 0.00001
NM_000059.4(BRCA2):c.1094C>T (p.Pro365Leu) rs730881578 0.00001
NM_000059.4(BRCA2):c.1097T>C (p.Leu366Ser) rs886040345 0.00001
NM_000059.4(BRCA2):c.1127T>C (p.Phe376Ser) rs80358410 0.00001
NM_000059.4(BRCA2):c.1131G>C (p.Glu377Asp) rs777845659 0.00001
NM_000059.4(BRCA2):c.1153A>C (p.Lys385Gln) rs80358411 0.00001
NM_000059.4(BRCA2):c.1225G>A (p.Glu409Lys) rs80358416 0.00001
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg) rs80358417 0.00001
NM_000059.4(BRCA2):c.1279G>C (p.Asp427His) rs147797288 0.00001
NM_000059.4(BRCA2):c.1315T>G (p.Phe439Val) rs80358420 0.00001
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His) rs80358423 0.00001
NM_000059.4(BRCA2):c.1381G>A (p.Glu461Lys) rs587782159 0.00001
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439 0.00001
NM_000059.4(BRCA2):c.1558T>G (p.Phe520Val) rs80358441 0.00001
NM_000059.4(BRCA2):c.1600G>A (p.Glu534Lys) rs276174810 0.00001
NM_000059.4(BRCA2):c.1705C>A (p.Gln569Lys) rs397507274 0.00001
NM_000059.4(BRCA2):c.1742C>T (p.Ser581Phe) rs587778118 0.00001
NM_000059.4(BRCA2):c.1769T>G (p.Phe590Cys) rs80358459 0.00001
NM_000059.4(BRCA2):c.1775A>G (p.Tyr592Cys) rs772156559 0.00001
NM_000059.4(BRCA2):c.1805G>T (p.Gly602Val) rs398122732 0.00001
NM_000059.4(BRCA2):c.181C>G (p.Leu61Val) rs771011731 0.00001
NM_000059.4(BRCA2):c.1949A>G (p.Asn650Ser) rs773619645 0.00001
NM_000059.4(BRCA2):c.1966A>G (p.Thr656Ala) rs398122736 0.00001
NM_000059.4(BRCA2):c.2014A>G (p.Arg672Gly) rs587781647 0.00001
NM_000059.4(BRCA2):c.2122T>A (p.Ser708Thr) rs80358488 0.00001
NM_000059.4(BRCA2):c.215A>G (p.Asn72Ser) rs276174818 0.00001
NM_000059.4(BRCA2):c.2173A>G (p.Lys725Glu) rs431825294 0.00001
NM_000059.4(BRCA2):c.2186T>C (p.Ile729Thr) rs431825296 0.00001
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp) rs863224585 0.00001
NM_000059.4(BRCA2):c.2290G>C (p.Glu764Gln) rs587782158 0.00001
NM_000059.4(BRCA2):c.2330A>G (p.Asp777Gly) rs780489283 0.00001
NM_000059.4(BRCA2):c.2348T>G (p.Val783Gly) rs768143929 0.00001
NM_000059.4(BRCA2):c.2380A>G (p.Met794Val) rs786203635 0.00001
NM_000059.4(BRCA2):c.240A>G (p.Ile80Met) rs80358505 0.00001
NM_000059.4(BRCA2):c.2443A>G (p.Met815Val) rs786203814 0.00001
NM_000059.4(BRCA2):c.2451G>T (p.Lys817Asn) rs767686668 0.00001
NM_000059.4(BRCA2):c.2471T>C (p.Leu824Ser) rs397507631 0.00001
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile) rs397507287 0.00001
NM_000059.4(BRCA2):c.2507C>T (p.Pro836Leu) rs397507288 0.00001
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu) rs587782454 0.00001
NM_000059.4(BRCA2):c.2554A>C (p.Asn852His) rs775531301 0.00001
NM_000059.4(BRCA2):c.2633A>T (p.Asp878Val) rs765618026 0.00001
NM_000059.4(BRCA2):c.2729A>G (p.His910Arg) rs760792501 0.00001
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298 0.00001
NM_000059.4(BRCA2):c.2837A>G (p.Asp946Gly) rs55972907 0.00001
NM_000059.4(BRCA2):c.2841G>T (p.Leu947Phe) rs769971508 0.00001
NM_000059.4(BRCA2):c.2881C>G (p.Gln961Glu) rs80358538 0.00001
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296 0.00001
NM_000059.4(BRCA2):c.2920G>A (p.Asp974Asn) rs539613324 0.00001
NM_000059.4(BRCA2):c.2980G>A (p.Ala994Thr) rs587782223 0.00001
NM_000059.4(BRCA2):c.298A>G (p.Lys100Glu) rs80358546 0.00001
NM_000059.4(BRCA2):c.3005A>C (p.Asn1002Thr) rs730881518 0.00001
NM_000059.4(BRCA2):c.3007C>G (p.His1003Asp) rs878853565 0.00001
NM_000059.4(BRCA2):c.3100A>G (p.Ile1034Val) rs755227053 0.00001
NM_000059.4(BRCA2):c.3101T>C (p.Ile1034Thr) rs545974734 0.00001
NM_000059.4(BRCA2):c.316+18G>A rs760439858 0.00001
NM_000059.4(BRCA2):c.3188A>G (p.Gln1063Arg) rs775030825 0.00001
NM_000059.4(BRCA2):c.3206C>T (p.Ser1069Phe) rs80358563 0.00001
NM_000059.4(BRCA2):c.3238G>C (p.Asp1080His) rs1064794159 0.00001
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg) rs80358569 0.00001
NM_000059.4(BRCA2):c.3251G>A (p.Ser1084Asn) rs543748012 0.00001
NM_000059.4(BRCA2):c.3302A>G (p.His1101Arg) rs398122761 0.00001
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp) rs369294255 0.00001
NM_000059.4(BRCA2):c.3344C>G (p.Ser1115Cys) rs879255448 0.00001
NM_000059.4(BRCA2):c.343A>G (p.Lys115Glu) rs56242644 0.00001
NM_000059.4(BRCA2):c.3451A>G (p.Ile1151Val) rs80358591 0.00001
NM_000059.4(BRCA2):c.3453C>G (p.Ile1151Met) rs80358592 0.00001
NM_000059.4(BRCA2):c.3482A>G (p.Asp1161Gly) rs1060502458 0.00001
NM_000059.4(BRCA2):c.34T>G (p.Phe12Val) rs80358597 0.00001
NM_000059.4(BRCA2):c.3562A>G (p.Ile1188Val) rs202230438 0.00001
NM_000059.4(BRCA2):c.3640G>A (p.Val1214Met) rs1015087797 0.00001
NM_000059.4(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611 0.00001
NM_000059.4(BRCA2):c.3667C>T (p.His1223Tyr) rs786203756 0.00001
NM_000059.4(BRCA2):c.3901A>T (p.Thr1301Ser) rs779899032 0.00001
NM_000059.4(BRCA2):c.3966C>G (p.Asn1322Lys) rs80358647 0.00001
NM_000059.4(BRCA2):c.4105T>C (p.Ser1369Pro) rs138567364 0.00001
NM_000059.4(BRCA2):c.413G>T (p.Cys138Phe) rs397507324 0.00001
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser) rs431825318 0.00001
NM_000059.4(BRCA2):c.4244A>G (p.Glu1415Gly) rs1060502399 0.00001
NM_000059.4(BRCA2):c.425G>A (p.Ser142Asn) rs397507713 0.00001
NM_000059.4(BRCA2):c.428C>G (p.Pro143Arg) rs587782795 0.00001
NM_000059.4(BRCA2):c.4316C>A (p.Ala1439Asp) rs80358667 0.00001
NM_000059.4(BRCA2):c.4344T>G (p.Asn1448Lys) rs1064793724 0.00001
NM_000059.4(BRCA2):c.4372C>T (p.His1458Tyr) rs80358672 0.00001
NM_000059.4(BRCA2):c.442T>C (p.Cys148Arg) rs80358677 0.00001
NM_000059.4(BRCA2):c.4436G>C (p.Ser1479Thr) rs80358678 0.00001
NM_000059.4(BRCA2):c.4478A>G (p.Glu1493Gly) rs80358679 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.4535G>A (p.Arg1512His) rs80358685 0.00001
NM_000059.4(BRCA2):c.4567G>C (p.Gly1523Arg) rs587781418 0.00001
NM_000059.4(BRCA2):c.4622A>G (p.Lys1541Arg) rs747899091 0.00001
NM_000059.4(BRCA2):c.4672A>C (p.Ser1558Arg) rs587782822 0.00001
NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn) rs587782522 0.00001
NM_000059.4(BRCA2):c.4747A>G (p.Ile1583Val) rs56072130 0.00001
NM_000059.4(BRCA2):c.4747A>T (p.Ile1583Phe) rs56072130 0.00001
NM_000059.4(BRCA2):c.4759G>A (p.Ala1587Thr) rs56137239 0.00001
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341 0.00001
NM_000059.4(BRCA2):c.4861T>G (p.Cys1621Gly) rs1060502419 0.00001
NM_000059.4(BRCA2):c.489T>G (p.Ser163Arg) rs398122787 0.00001
NM_000059.4(BRCA2):c.4987G>C (p.Val1663Leu) rs587781763 0.00001
NM_000059.4(BRCA2):c.5045G>A (p.Ser1682Asn) rs41293493 0.00001
NM_000059.4(BRCA2):c.5144T>C (p.Leu1715Ser) rs1064793634 0.00001
NM_000059.4(BRCA2):c.5153A>G (p.Asn1718Ser) rs80358739 0.00001
NM_000059.4(BRCA2):c.516+17G>C rs765435155 0.00001
NM_000059.4(BRCA2):c.517-17A>G rs1060504603 0.00001
NM_000059.4(BRCA2):c.5186A>C (p.Lys1729Thr) rs772860507 0.00001
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys) rs786202543 0.00001
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217 0.00001
NM_000059.4(BRCA2):c.5231G>T (p.Ser1744Ile) rs587782060 0.00001
NM_000059.4(BRCA2):c.5272A>G (p.Asn1758Asp) rs80358750 0.00001
NM_000059.4(BRCA2):c.5344C>A (p.Gln1782Lys) rs80358757 0.00001
NM_000059.4(BRCA2):c.5373A>G (p.Ile1791Met) rs1060502406 0.00001
NM_000059.4(BRCA2):c.5487G>T (p.Leu1829Phe) rs779967765 0.00001
NM_000059.4(BRCA2):c.5536A>G (p.Ile1846Val) rs587782375 0.00001
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn) rs587781536 0.00001
NM_000059.4(BRCA2):c.5663A>G (p.Lys1888Arg) rs80358791 0.00001
NM_000059.4(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301 0.00001
NM_000059.4(BRCA2):c.5693A>G (p.Asp1898Gly) rs876658786 0.00001
NM_000059.4(BRCA2):c.5714A>G (p.His1905Arg) rs80358796 0.00001
NM_000059.4(BRCA2):c.5782G>A (p.Glu1928Lys) rs56253082 0.00001
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820 0.00001
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr) rs1060502377 0.00001
NM_000059.4(BRCA2):c.5903C>T (p.Ser1968Leu) rs587782597 0.00001
NM_000059.4(BRCA2):c.5961G>T (p.Gln1987His) rs387907575 0.00001
NM_000059.4(BRCA2):c.6037A>G (p.Lys2013Glu) rs80358840 0.00001
NM_000059.4(BRCA2):c.6115T>A (p.Leu2039Ile) rs370026879 0.00001
NM_000059.4(BRCA2):c.6117A>C (p.Leu2039Phe) rs1566233950 0.00001
NM_000059.4(BRCA2):c.6121T>C (p.Ser2041Pro) rs1160083526 0.00001
NM_000059.4(BRCA2):c.619A>G (p.Thr207Ala) rs80358858 0.00001
NM_000059.4(BRCA2):c.620C>T (p.Thr207Ile) rs41293471 0.00001
NM_000059.4(BRCA2):c.6271A>C (p.Ser2091Arg) rs398122550 0.00001
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys) rs397507838 0.00001
NM_000059.4(BRCA2):c.6287C>G (p.Pro2096Arg) rs587781396 0.00001
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581 0.00001
NM_000059.4(BRCA2):c.6403A>C (p.Asn2135His) rs80358876 0.00001
NM_000059.4(BRCA2):c.6413T>A (p.Val2138Asp) rs80358877 0.00001
NM_000059.4(BRCA2):c.6442T>G (p.Ser2148Ala) rs1314863621 0.00001
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880 0.00001
NM_000059.4(BRCA2):c.6450A>C (p.Lys2150Asn) rs876658814 0.00001
NM_000059.4(BRCA2):c.6458C>T (p.Pro2153Leu) rs276174873 0.00001
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe) rs765575482 0.00001
NM_000059.4(BRCA2):c.6540G>C (p.Leu2180Phe) rs398122560 0.00001
NM_000059.4(BRCA2):c.6626T>C (p.Ile2209Thr) rs431825344 0.00001
NM_000059.4(BRCA2):c.6638C>T (p.Ser2213Phe) rs75925841 0.00001
NM_000059.4(BRCA2):c.6641C>T (p.Thr2214Ile) rs1566235063 0.00001
NM_000059.4(BRCA2):c.6646T>G (p.Ser2216Ala) rs918816907 0.00001
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp) rs41293501 0.00001
NM_000059.4(BRCA2):c.67+13T>C rs1555280121 0.00001
NM_000059.4(BRCA2):c.67+18A>G rs1057524048 0.00001
NM_000059.4(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503 0.00001
NM_000059.4(BRCA2):c.6785T>G (p.Met2262Arg) rs80358904 0.00001
NM_000059.4(BRCA2):c.6806T>C (p.Ile2269Thr) rs398122564 0.00001
NM_000059.4(BRCA2):c.6815G>A (p.Arg2272Lys) rs199522406 0.00001
NM_000059.4(BRCA2):c.682-13A>G rs81002888 0.00001
NM_000059.4(BRCA2):c.6842-11T>A rs81002877 0.00001
NM_000059.4(BRCA2):c.6875A>G (p.Glu2292Gly) rs397507378 0.00001
NM_000059.4(BRCA2):c.6892G>A (p.Glu2298Lys) rs80358914 0.00001
NM_000059.4(BRCA2):c.694T>C (p.Tyr232His) rs398122572 0.00001
NM_000059.4(BRCA2):c.6966G>T (p.Met2322Ile) rs80358924 0.00001
NM_000059.4(BRCA2):c.6973G>C (p.Val2325Leu) rs757647065 0.00001
NM_000059.4(BRCA2):c.6991A>G (p.Thr2331Ala) rs80358926 0.00001
NM_000059.4(BRCA2):c.7001C>T (p.Pro2334Leu) rs748816192 0.00001
NM_000059.4(BRCA2):c.7005T>C (p.Phe2335=) rs1261716229 0.00001
NM_000059.4(BRCA2):c.7022G>A (p.Arg2341His) rs786202839 0.00001
NM_000059.4(BRCA2):c.7042A>C (p.Asn2348His) rs55742659 0.00001
NM_000059.4(BRCA2):c.7066T>G (p.Phe2356Val) rs863224596 0.00001
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys) rs80358940 0.00001
NM_000059.4(BRCA2):c.714_716dup (p.Glu238_Ser239insArg) rs80359640 0.00001
NM_000059.4(BRCA2):c.7349A>T (p.Asn2450Ile) rs761505767 0.00001
NM_000059.4(BRCA2):c.7390C>G (p.Gln2464Glu) rs572945276 0.00001
NM_000059.4(BRCA2):c.7394C>T (p.Ala2465Val) rs80358960 0.00001
NM_000059.4(BRCA2):c.7402G>A (p.Val2468Ile) rs730881553 0.00001
NM_000059.4(BRCA2):c.7411A>G (p.Thr2471Ala) rs771087264 0.00001
NM_000059.4(BRCA2):c.7438T>G (p.Leu2480Val) rs80358965 0.00001
NM_000059.4(BRCA2):c.7447A>G (p.Ser2483Gly) rs80358966 0.00001
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly) rs80358970 0.00001
NM_000059.4(BRCA2):c.7472A>G (p.Gln2491Arg) rs185012573 0.00001
NM_000059.4(BRCA2):c.7484T>C (p.Ile2495Thr) rs80358974 0.00001
NM_000059.4(BRCA2):c.7540A>G (p.Lys2514Glu) rs864622624 0.00001
NM_000059.4(BRCA2):c.7585G>A (p.Gly2529Ser) rs398122585 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.7637C>T (p.Ser2546Phe) rs398122586 0.00001
NM_000059.4(BRCA2):c.7706G>A (p.Gly2569Asp) rs587781943 0.00001
NM_000059.4(BRCA2):c.7739A>G (p.Gln2580Arg) rs1064795508 0.00001
NM_000059.4(BRCA2):c.7769C>G (p.Ser2590Cys) rs786202615 0.00001
NM_000059.4(BRCA2):c.7805+8A>G rs81002847 0.00001
NM_000059.4(BRCA2):c.7806-6del rs764374133 0.00001
NM_000059.4(BRCA2):c.784G>A (p.Ala262Thr) rs397507393 0.00001
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys) rs431825358 0.00001
NM_000059.4(BRCA2):c.7882A>G (p.Ile2628Val) rs1483187442 0.00001
NM_000059.4(BRCA2):c.7916C>T (p.Pro2639Leu) rs774723315 0.00001
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp) rs431825360 0.00001
NM_000059.4(BRCA2):c.7931A>G (p.Asn2644Ser) rs80359020 0.00001
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=) rs80359800 0.00001
NM_000059.4(BRCA2):c.7A>G (p.Ile3Val) rs770479195 0.00001
NM_000059.4(BRCA2):c.8042C>G (p.Thr2681Arg) rs587782519 0.00001
NM_000059.4(BRCA2):c.8119A>G (p.Lys2707Glu) rs1046479731 0.00001
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg) rs786204274 0.00001
NM_000059.4(BRCA2):c.8183T>C (p.Val2728Ala) rs587781719 0.00001
NM_000059.4(BRCA2):c.8186A>G (p.Lys2729Arg) rs755946384 0.00001
NM_000059.4(BRCA2):c.825A>T (p.Lys275Asn) rs397507399 0.00001
NM_000059.4(BRCA2):c.8262T>G (p.His2754Gln) rs587776472 0.00001
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly) rs768247528 0.00001
NM_000059.4(BRCA2):c.8300C>G (p.Pro2767Arg) rs397507401 0.00001
NM_000059.4(BRCA2):c.8331+14C>T rs1287378096 0.00001
NM_000059.4(BRCA2):c.8332-6G>T rs587780872 0.00001
NM_000059.4(BRCA2):c.8432A>G (p.Asp2811Gly) rs80359090 0.00001
NM_000059.4(BRCA2):c.8435G>A (p.Gly2812Glu) rs80359091 0.00001
NM_000059.4(BRCA2):c.8440A>G (p.Asn2814Asp) rs876660312 0.00001
NM_000059.4(BRCA2):c.8450G>T (p.Cys2817Phe) rs786201992 0.00001
NM_000059.4(BRCA2):c.8452G>A (p.Val2818Ile) rs80359094 0.00001
NM_000059.4(BRCA2):c.847A>G (p.Ile283Val) rs80359097 0.00001
NM_000059.4(BRCA2):c.8488-20del rs1566249132 0.00001
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val) rs80359103 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.8539G>A (p.Glu2847Lys) rs80359108 0.00001
NM_000059.4(BRCA2):c.8630A>G (p.Glu2877Gly) rs1064794960 0.00001
NM_000059.4(BRCA2):c.8632+14T>C rs730881596 0.00001
NM_000059.4(BRCA2):c.8708A>G (p.Glu2903Gly) rs730881566 0.00001
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) rs80359130 0.00001
NM_000059.4(BRCA2):c.8755-17A>G rs431825370 0.00001
NM_000059.4(BRCA2):c.8765G>A (p.Ser2922Asn) rs730881567 0.00001
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala) rs151174152 0.00001
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala) rs587782021 0.00001
NM_000059.4(BRCA2):c.8915T>G (p.Leu2972Trp) rs80359142 0.00001
NM_000059.4(BRCA2):c.902A>G (p.Asp301Gly) rs730881508 0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155 0.00001
NM_000059.4(BRCA2):c.9101A>G (p.Gln3034Arg) rs80359164 0.00001
NM_000059.4(BRCA2):c.9106C>G (p.Gln3036Glu) rs202155613 0.00001
NM_000059.4(BRCA2):c.9118-18T>C rs1555288527 0.00001
NM_000059.4(BRCA2):c.9249A>T (p.Lys3083Asn) rs80359191 0.00001
NM_000059.4(BRCA2):c.9257-20T>G rs1223021680 0.00001
NM_000059.4(BRCA2):c.9319A>G (p.Ile3107Val) rs879255336 0.00001
NM_000059.4(BRCA2):c.9338T>C (p.Ile3113Thr) rs770003991 0.00001
NM_000059.4(BRCA2):c.938C>T (p.Ser313Phe) rs397507428 0.00001
NM_000059.4(BRCA2):c.9472A>G (p.Thr3158Ala) rs786204284 0.00001
NM_000059.4(BRCA2):c.9477C>A (p.Phe3159Leu) rs80359221 0.00001
NM_000059.4(BRCA2):c.9493A>G (p.Thr3165Ala) rs587782568 0.00001
NM_000059.4(BRCA2):c.9530A>G (p.Glu3177Gly) rs876658365 0.00001
NM_000059.4(BRCA2):c.9547A>G (p.Ile3183Val) rs377123889 0.00001
NM_000059.4(BRCA2):c.9560A>G (p.Asn3187Ser) rs1329182873 0.00001
NM_000059.4(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227 0.00001
NM_000059.4(BRCA2):c.9690A>T (p.Leu3230Phe) rs80359238 0.00001
NM_000059.4(BRCA2):c.971G>C (p.Arg324Thr) rs397507435 0.00001
NM_000059.4(BRCA2):c.9812T>C (p.Leu3271Ser) rs397507436 0.00001
NM_000059.4(BRCA2):c.9839C>A (p.Pro3280His) rs80359246 0.00001
NM_000069.3(CACNA1S):c.2365C>T (p.Arg789Cys) rs148895719 0.00001
NM_000070.3(CAPN3):c.398C>T (p.Ala133Val) rs774685118 0.00001
NM_000070.3(CAPN3):c.755T>C (p.Met252Thr) rs1555420652 0.00001
NM_000070.3(CAPN3):c.964T>C (p.Tyr322His) rs149591108 0.00001
NM_000070.3(CAPN3):c.998G>A (p.Gly333Asp) rs200580015 0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu) rs121964971 0.00001
NM_000075.4(CDK4):c.155G>A (p.Ser52Asn) rs760719270 0.00001
NM_000075.4(CDK4):c.219-7T>C rs543798269 0.00001
NM_000075.4(CDK4):c.346A>G (p.Thr116Ala) rs2063052002 0.00001
NM_000075.4(CDK4):c.352A>C (p.Lys118Gln) rs772689692 0.00001
NM_000075.4(CDK4):c.605G>C (p.Cys202Ser) rs1424791303 0.00001
NM_000075.4(CDK4):c.629G>A (p.Arg210Gln) rs373619077 0.00001
NM_000075.4(CDK4):c.841C>G (p.His281Asp) rs876659522 0.00001
NM_000077.5(CDKN2A):c.106G>A (p.Ala36Thr) rs777948908 0.00001
NM_000077.5(CDKN2A):c.320G>A (p.Arg107His) rs370823171 0.00001
NM_000077.5(CDKN2A):c.343G>T (p.Val115Leu) rs779913365 0.00001
NM_000077.5(CDKN2A):c.375T>A (p.Asp125Glu) rs1290057397 0.00001
NM_000077.5(CDKN2A):c.412A>G (p.Arg138Gly) rs145012438 0.00001
NM_000077.5(CDKN2A):c.416G>A (p.Gly139Asp) rs149937815 0.00001
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr) rs754195015 0.00001
NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr) rs376496670 0.00001
NM_000081.4(LYST):c.5578A>G (p.Met1860Val) rs368738466 0.00001
NM_000083.3(CLCN1):c.1832G>A (p.Arg611His) rs763850295 0.00001
NM_000083.3(CLCN1):c.1976C>T (p.Ala659Val) rs1336908700 0.00001
NM_000083.3(CLCN1):c.763G>T (p.Gly255Trp) rs746691295 0.00001
NM_000088.4(COL1A1):c.3842G>T (p.Gly1281Val) rs918420911 0.00001
NM_000090.4(COL3A1):c.1050+7_1050+8del rs759415640 0.00001
NM_000090.4(COL3A1):c.1455+12A>G rs752647323 0.00001
NM_000090.4(COL3A1):c.178G>A (p.Val60Ile) rs762028131 0.00001
NM_000090.4(COL3A1):c.1972G>A (p.Glu658Lys) rs189846410 0.00001
NM_000090.4(COL3A1):c.3071G>A (p.Arg1024Gln) rs1484867480 0.00001
NM_000090.4(COL3A1):c.3824-11T>G rs766096022 0.00001
NM_000090.4(COL3A1):c.4254+10A>G rs1045801346 0.00001
NM_000090.4(COL3A1):c.4273A>G (p.Ser1425Gly) rs1415901923 0.00001
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys) rs747324731 0.00001
NM_000090.4(COL3A1):c.745-7T>C rs776306752 0.00001
NM_000091.5(COL4A3):c.1367_1369del (p.Tyr456del) rs762420854 0.00001
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg) rs1293137291 0.00001
NM_000091.5(COL4A3):c.4783G>A (p.Gly1595Arg) rs766208466 0.00001
NM_000091.5(COL4A3):c.527C>G (p.Pro176Arg) rs759869958 0.00001
NM_000091.5(COL4A3):c.764C>T (p.Thr255Met) rs573527081 0.00001
NM_000092.5(COL4A4):c.410G>A (p.Gly137Asp) rs377511303 0.00001
NM_000092.5(COL4A4):c.485C>T (p.Pro162Leu) rs901711159 0.00001
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.4765G>A (p.Ala1589Thr) rs377138881 0.00001
NM_000094.4(COL7A1):c.7115G>A (p.Gly2372Glu) rs1233025207 0.00001
NM_000094.4(COL7A1):c.8167C>T (p.Pro2723Ser) rs774540354 0.00001
NM_000098.3(CPT2):c.1115A>G (p.His372Arg) rs1212235186 0.00001
NM_000098.3(CPT2):c.1493G>A (p.Arg498His) rs776645157 0.00001
NM_000098.3(CPT2):c.1751A>G (p.His584Arg) rs750604350 0.00001
NM_000098.3(CPT2):c.673C>T (p.Arg225Cys) rs759733220 0.00001
NM_000104.4(CYP1B1):c.277C>T (p.Pro93Ser) rs1156997078 0.00001
NM_000110.4(DPYD):c.3034G>T (p.Glu1012Ter) rs761584058 0.00001
NM_000110.4(DPYD):c.36C>G (p.Ile12Met) rs376273539 0.00001
NM_000110.4(DPYD):c.632A>G (p.Tyr211Cys) rs72549307 0.00001
NM_000123.4(ERCC5):c.2383G>A (p.Ala795Thr) rs751772171 0.00001
NM_000123.4(ERCC5):c.2556A>G (p.Ile852Met) rs780704053 0.00001
NM_000124.4(ERCC6):c.-14-2A>G rs760663515 0.00001
NM_000124.4(ERCC6):c.899C>T (p.Ala300Val) rs373471724 0.00001
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1693G>A (p.Glu565Lys) rs281875275 0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_000132.4(F8):c.989A>G (p.His330Arg) rs782498015 0.00001
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg) rs777736014 0.00001
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly) rs748713183 0.00001
NM_000136.3(FANCC):c.1048A>G (p.Met350Val) rs863224607 0.00001
NM_000136.3(FANCC):c.436_438del (p.Tyr146del) rs761347179 0.00001
NM_000136.3(FANCC):c.46A>G (p.Met16Val) rs1390412870 0.00001
NM_000136.3(FANCC):c.521+10_521+13del rs1372625836 0.00001
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 0.00001
NM_000136.3(FANCC):c.792T>G (p.Ser264Arg) rs730881717 0.00001
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr) rs757190154 0.00001
NM_000137.4(FAH):c.742G>A (p.Gly248Arg) rs774861939 0.00001
NM_000138.5(FBN1):c.1373A>G (p.Tyr458Cys) rs749133312 0.00001
NM_000138.5(FBN1):c.1586G>A (p.Arg529Gln) rs1441536824 0.00001
NM_000138.5(FBN1):c.1603T>A (p.Leu535Ile) rs1485432119 0.00001
NM_000138.5(FBN1):c.1615C>T (p.Arg539Trp) rs752999845 0.00001
NM_000138.5(FBN1):c.1634G>A (p.Arg545His) rs193922179 0.00001
NM_000138.5(FBN1):c.2106G>T (p.Gln702His) rs778835898 0.00001
NM_000138.5(FBN1):c.2113+17A>G rs1246446564 0.00001
NM_000138.5(FBN1):c.2113+19A>T rs541501178 0.00001
NM_000138.5(FBN1):c.2711A>G (p.Lys904Arg) rs778951277 0.00001
NM_000138.5(FBN1):c.2773C>G (p.Leu925Val) rs149681175 0.00001
NM_000138.5(FBN1):c.2926C>T (p.Arg976Cys) rs548296552 0.00001
NM_000138.5(FBN1):c.3409C>T (p.Arg1137Cys) rs1439487763 0.00001
NM_000138.5(FBN1):c.3464-3C>T rs770992241 0.00001
NM_000138.5(FBN1):c.3593T>C (p.Ile1198Thr) rs755375255 0.00001
NM_000138.5(FBN1):c.365G>A (p.Arg122His) rs1010750845 0.00001
NM_000138.5(FBN1):c.3711C>T (p.Thr1237=) rs536369260 0.00001
NM_000138.5(FBN1):c.3718G>A (p.Asp1240Asn) rs573187346 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4312A>G (p.Ser1438Gly) rs1309215883 0.00001
NM_000138.5(FBN1):c.442C>T (p.Pro148Ser) rs780624885 0.00001
NM_000138.5(FBN1):c.4943-3T>C rs367594261 0.00001
NM_000138.5(FBN1):c.5142G>A (p.Met1714Ile) rs368287795 0.00001
NM_000138.5(FBN1):c.5225-19C>T rs375761937 0.00001
NM_000138.5(FBN1):c.5296+13G>A rs781168268 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 0.00001
NM_000138.5(FBN1):c.5546-17A>G rs758777360 0.00001
NM_000138.5(FBN1):c.5776A>G (p.Asn1926Asp) rs1060501097 0.00001
NM_000138.5(FBN1):c.5977G>A (p.Asp1993Asn) rs377671719 0.00001
NM_000138.5(FBN1):c.6163+2dup rs794728315 0.00001
NM_000138.5(FBN1):c.6559G>A (p.Gly2187Ser) rs760055383 0.00001
NM_000138.5(FBN1):c.6871+12C>A rs770526904 0.00001
NM_000138.5(FBN1):c.6970G>A (p.Ala2324Thr) rs148831709 0.00001
NM_000138.5(FBN1):c.7082C>T (p.Ser2361Leu) rs397515844 0.00001
NM_000138.5(FBN1):c.7181G>A (p.Arg2394Gln) rs199750146 0.00001
NM_000138.5(FBN1):c.7183G>A (p.Gly2395Arg) rs1448650040 0.00001
NM_000138.5(FBN1):c.7484A>G (p.Asn2495Ser) rs1252037822 0.00001
NM_000138.5(FBN1):c.7598A>G (p.Asn2533Ser) rs111231879 0.00001
NM_000138.5(FBN1):c.8051+20G>T rs781718760 0.00001
NM_000138.5(FBN1):c.8177G>A (p.Arg2726Gln) rs552157433 0.00001
NM_000138.5(FBN1):c.8257C>G (p.Leu2753Val) rs1253681259 0.00001
NM_000138.5(FBN1):c.8593A>G (p.Lys2865Glu) rs775732785 0.00001
NM_000141.5(FGFR2):c.569G>A (p.Arg190Gln) rs759750319 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000142.5(FGFR3):c.1331C>T (p.Ser444Phe) rs761325047 0.00001
NM_000142.5(FGFR3):c.370C>T (p.Arg124Trp) rs199740841 0.00001
NM_000143.4(FH):c.817G>A (p.Ala273Thr) rs772190176 0.00001
NM_000146.4(FTL):c.-182C>T rs886037622 0.00001
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln) rs372045495 0.00001
NM_000151.4(G6PC1):c.356A>G (p.His119Arg) rs1401928680 0.00001
NM_000152.5(GAA):c.1075+4G>A rs754290055 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser) rs773576381 0.00001
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn) rs755272974 0.00001
NM_000152.5(GAA):c.842G>A (p.Arg281Gln) rs772607616 0.00001
NM_000153.4(GALC):c.*12G>A rs372641636 0.00001
NM_000153.4(GALC):c.1187G>A (p.Arg396Gln) rs887930208 0.00001
NM_000153.4(GALC):c.1489+9T>C rs747839251 0.00001
NM_000153.4(GALC):c.1895T>C (p.Leu632Pro) rs1418694289 0.00001
NM_000153.4(GALC):c.1912G>A (p.Gly638Ser) rs769851272 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000153.4(GALC):c.251A>G (p.Asp84Gly) rs1555383882 0.00001
NM_000153.4(GALC):c.486C>A (p.Asp162Glu) rs767286511 0.00001
NM_000153.4(GALC):c.869G>A (p.Arg290His) rs746806459 0.00001
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg) rs1214866139 0.00001
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys) rs1365349586 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.469G>A (p.Val157Ile) rs1173928130 0.00001
NM_000155.4(GALT):c.564+7G>A rs760189807 0.00001
NM_000155.4(GALT):c.593T>C (p.Ile198Thr) rs1483461355 0.00001
NM_000155.4(GALT):c.632G>C (p.Ser211Thr) rs3824553 0.00001
NM_000155.4(GALT):c.82+13C>T rs776194301 0.00001
NM_000155.4(GALT):c.82+15G>A rs752065555 0.00001
NM_000156.6(GAMT):c.391+15G>T rs367567416 0.00001
NM_000156.6(GAMT):c.467C>A (p.Ala156Asp) rs368221789 0.00001
NM_000157.4(GBA1):c.1102C>T (p.Arg368Cys) rs374306700 0.00001
NM_000157.4(GBA1):c.1151C>T (p.Ser384Phe) rs868591897 0.00001
NM_000157.4(GBA1):c.473T>C (p.Ile158Thr) rs77834747 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.1693C>T (p.Arg565Trp) rs552094593 0.00001
NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly) rs1400238963 0.00001
NM_000158.4(GBE1):c.842T>G (p.Ile281Ser) rs1704706672 0.00001
NM_000159.4(GCDH):c.647C>T (p.Ser216Leu) rs1449724176 0.00001
NM_000159.4(GCDH):c.826G>T (p.Val276Leu) rs763300541 0.00001
NM_000159.4(GCDH):c.833C>T (p.Pro278Leu) rs755054282 0.00001
NM_000159.4(GCDH):c.852+5G>A rs886054243 0.00001
NM_000159.4(GCDH):c.873C>A (p.Asn291Lys) rs1328059662 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.605T>C (p.Met202Thr) rs193922311 0.00001
NM_000162.5(GCK):c.824G>A (p.Arg275His) rs767565869 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 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.801+14C>T rs200744672 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.2324A>G (p.His775Arg) rs386833555 0.00001
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp) rs772574530 0.00001
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro) rs1356375715 0.00001
NM_000171.4(GLRA1):c.1158C>A (p.Asn386Lys) rs776916010 0.00001
NM_000171.4(GLRA1):c.525G>A (p.Met175Ile) rs1341348939 0.00001
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val) rs730881788 0.00001
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile) rs375974046 0.00001
NM_000179.3(MSH6):c.1133G>A (p.Arg378Lys) rs587779205 0.00001
NM_000179.3(MSH6):c.1146C>G (p.His382Gln) rs1572721856 0.00001
NM_000179.3(MSH6):c.1163A>T (p.His388Leu) rs786201185 0.00001
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys) rs63750065 0.00001
NM_000179.3(MSH6):c.1214C>G (p.Ser405Cys) rs730881790 0.00001
NM_000179.3(MSH6):c.134G>C (p.Gly45Ala) rs1114167802 0.00001
NM_000179.3(MSH6):c.1376C>G (p.Ser459Cys) rs587782346 0.00001
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg) rs374597395 0.00001
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg) rs63751009 0.00001
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp) rs373726731 0.00001
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala) rs63751098 0.00001
NM_000179.3(MSH6):c.1646C>G (p.Ser549Cys) rs200447622 0.00001
NM_000179.3(MSH6):c.1655A>G (p.His552Arg) rs1064793423 0.00001
NM_000179.3(MSH6):c.1757T>C (p.Val586Ala) rs730881792 0.00001
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu) rs755847154 0.00001
NM_000179.3(MSH6):c.2001T>A (p.Asp667Glu) rs1361745058 0.00001
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr) rs555209664 0.00001
NM_000179.3(MSH6):c.2030G>C (p.Ser677Thr) rs587779224 0.00001
NM_000179.3(MSH6):c.2056G>T (p.Gly686Cys) rs1060502934 0.00001
NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys) rs730881796 0.00001
NM_000179.3(MSH6):c.2282G>C (p.Arg761Thr) rs587779233 0.00001
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn) rs561198849 0.00001
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val) rs864622324 0.00001
NM_000179.3(MSH6):c.233G>A (p.Arg78Lys) rs864622425 0.00001
NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu) rs1064793552 0.00001
NM_000179.3(MSH6):c.241G>A (p.Ala81Thr) rs587779239 0.00001
NM_000179.3(MSH6):c.260+7G>A rs774479750 0.00001
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly) rs139598980 0.00001
NM_000179.3(MSH6):c.263G>A (p.Cys88Tyr) rs1060502911 0.00001
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg) rs876661281 0.00001
NM_000179.3(MSH6):c.2762C>T (p.Ala921Val) rs1060502936 0.00001
NM_000179.3(MSH6):c.2776C>T (p.Leu926Phe) rs587781318 0.00001
NM_000179.3(MSH6):c.2855T>C (p.Leu952Pro) rs587781743 0.00001
NM_000179.3(MSH6):c.2875C>T (p.Arg959Cys) rs751973865 0.00001
NM_000179.3(MSH6):c.2882G>C (p.Arg961Thr) rs587781458 0.00001
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala) rs746631156 0.00001
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile) rs587779928 0.00001
NM_000179.3(MSH6):c.2962C>T (p.Arg988Cys) rs61753795 0.00001
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln) rs587782324 0.00001
NM_000179.3(MSH6):c.3049A>G (p.Asn1017Asp) rs1060502943 0.00001
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val) rs1553331250 0.00001
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala) rs376452612 0.00001
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu) rs747441460 0.00001
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn) rs773955368 0.00001
NM_000179.3(MSH6):c.3363G>C (p.Glu1121Asp) rs377226210 0.00001
NM_000179.3(MSH6):c.336C>A (p.Asn112Lys) rs1182444882 0.00001
NM_000179.3(MSH6):c.3465G>T (p.Gln1155His) rs766817979 0.00001
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val) rs369778514 0.00001
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr) rs587779273 0.00001
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys) rs763593669 0.00001
NM_000179.3(MSH6):c.3649A>G (p.Arg1217Gly) rs587780677 0.00001
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser) rs730881807 0.00001
NM_000179.3(MSH6):c.3713C>G (p.Thr1238Ser) rs755349360 0.00001
NM_000179.3(MSH6):c.3725G>T (p.Arg1242Leu) rs63750119 0.00001
NM_000179.3(MSH6):c.3779T>C (p.Val1260Ala) rs1212740618 0.00001
NM_000179.3(MSH6):c.3782C>T (p.Ala1261Val) rs773171352 0.00001
NM_000179.3(MSH6):c.3809T>A (p.Met1270Lys) rs777617756 0.00001
NM_000179.3(MSH6):c.3886A>G (p.Lys1296Glu) rs575714670 0.00001
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe) rs192740549 0.00001
NM_000179.3(MSH6):c.435A>C (p.Lys145Asn) rs1321666742 0.00001
NM_000179.3(MSH6):c.457+7G>C rs781280171 0.00001
NM_000179.3(MSH6):c.533G>A (p.Arg178His) rs786204186 0.00001
NM_000179.3(MSH6):c.533G>T (p.Arg178Leu) rs786204186 0.00001
NM_000179.3(MSH6):c.566A>T (p.Lys189Met) rs1060502889 0.00001
NM_000179.3(MSH6):c.667A>G (p.Asn223Asp) rs374041375 0.00001
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile) rs63750878 0.00001
NM_000179.3(MSH6):c.898C>T (p.Arg300Trp) rs779858670 0.00001
NM_000179.3(MSH6):c.997A>G (p.Thr333Ala) rs886056143 0.00001
NM_000180.4(GUCY2D):c.1996C>T (p.Arg666Trp) rs757387072 0.00001
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu) rs771629102 0.00001
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser) rs779091113 0.00001
NM_000182.5(HADHA):c.67+17G>C rs574255291 0.00001
NM_000182.5(HADHA):c.914T>C (p.Ile305Thr) rs137852774 0.00001
NM_000182.5(HADHA):c.982G>A (p.Gly328Arg) rs796051970 0.00001
NM_000183.3(HADHB):c.608G>A (p.Arg203Gln) rs749861331 0.00001
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) rs118204106 0.00001
NM_000191.3(HMGCL):c.494G>A (p.Arg165Gln) rs199587895 0.00001
NM_000191.3(HMGCL):c.704A>G (p.His235Arg) rs990313450 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_000203.5(IDUA):c.1070C>T (p.Pro357Leu) rs918621189 0.00001
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694 0.00001
NM_000203.5(IDUA):c.535A>G (p.Thr179Ala) rs766030255 0.00001
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys) rs546933529 0.00001
NM_000208.4(INSR):c.1151A>G (p.Asn384Ser) rs1419106670 0.00001
NM_000209.4(PDX1):c.110A>T (p.Tyr37Phe) rs1242190304 0.00001
NM_000214.3(JAG1):c.2413C>T (p.Arg805Trp) rs1458651228 0.00001
NM_000218.3(KCNQ1):c.1765G>A (p.Gly589Ser) rs780676796 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000231.3(SGCG):c.703C>T (p.Leu235Phe) rs763780768 0.00001
NM_000237.3(LPL):c.590G>A (p.Arg197His) rs372668179 0.00001
NM_000238.4(KCNH2):c.1946-8G>A rs1384850938 0.00001
NM_000238.4(KCNH2):c.2660G>A (p.Arg887His) rs199473432 0.00001
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422 0.00001
NM_000243.3(MEFV):c.1261-13G>A rs778114467 0.00001
NM_000243.3(MEFV):c.1356+11A>C rs548648384 0.00001
NM_000243.3(MEFV):c.1501C>T (p.Arg501Cys) rs104895101 0.00001
NM_000243.3(MEFV):c.1643C>A (p.Thr548Asn) rs550970304 0.00001
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu) rs104895165 0.00001
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met) rs104895102 0.00001
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr) rs104895154 0.00001
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile) rs104895130 0.00001
NM_000243.3(MEFV):c.443A>T (p.Glu148Val) rs104895076 0.00001
NM_000243.3(MEFV):c.448G>A (p.Gly150Arg) rs1959088372 0.00001
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg) rs765450054 0.00001
NM_000243.3(MEFV):c.679A>G (p.Arg227Gly) rs1302994748 0.00001
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys) rs104895080 0.00001
NM_000245.4(MET):c.2851T>C (p.Phe951Leu) rs756670611 0.00001
NM_000245.4(MET):c.490C>G (p.Pro164Ala) rs765759353 0.00001
NM_000246.4(CIITA):c.2027A>T (p.Gln676Leu) rs574001136 0.00001
NM_000246.4(CIITA):c.3326C>T (p.Thr1109Met) rs1013962316 0.00001
NM_000249.4(MLH1):c.*3A>G rs587778880 0.00001
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp) rs587781750 0.00001
NM_000249.4(MLH1):c.1060G>A (p.Gly354Ser) rs752962453 0.00001
NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser) rs756347993 0.00001
NM_000249.4(MLH1):c.1064C>T (p.Pro355Leu) rs587782467 0.00001
NM_000249.4(MLH1):c.116+8G>A rs904872305 0.00001
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn) rs587779951 0.00001
NM_000249.4(MLH1):c.1245T>G (p.Asp415Glu) rs750563193 0.00001
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu) rs876659252 0.00001
NM_000249.4(MLH1):c.1451A>G (p.Asp484Gly) rs876659795 0.00001
NM_000249.4(MLH1):c.1490G>A (p.Arg497Gln) rs754554026 0.00001
NM_000249.4(MLH1):c.1500C>G (p.Ile500Met) rs887474856 0.00001
NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr) rs876658689 0.00001
NM_000249.4(MLH1):c.1558+10C>T rs765913871 0.00001
NM_000249.4(MLH1):c.1667G>C (p.Ser556Thr) rs63751596 0.00001
NM_000249.4(MLH1):c.1731+8T>C rs370108219 0.00001
NM_000249.4(MLH1):c.1744C>G (p.Leu582Val) rs63751713 0.00001
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile) rs587779956 0.00001
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu) rs377241633 0.00001
NM_000249.4(MLH1):c.1896+7C>T rs863224339 0.00001
NM_000249.4(MLH1):c.2161T>C (p.Tyr721His) rs1453792999 0.00001
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys) rs587778986 0.00001
NM_000249.4(MLH1):c.306+4A>G rs267607733 0.00001
NM_000249.4(MLH1):c.306G>A (p.Glu102=) rs63751665 0.00001
NM_000249.4(MLH1):c.359C>G (p.Ala120Gly) rs267607740 0.00001
NM_000249.4(MLH1):c.454-6G>A rs781238673 0.00001
NM_000249.4(MLH1):c.541G>A (p.Gly181Ser) rs1064795694 0.00001
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029 0.00001
NM_000249.4(MLH1):c.622C>T (p.Pro208Ser) rs587781509 0.00001
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro) rs750650349 0.00001
NM_000249.4(MLH1):c.677+7C>G rs556224377 0.00001
NM_000249.4(MLH1):c.677+9A>G rs1060500696 0.00001
NM_000249.4(MLH1):c.704A>T (p.Asp235Val) rs587781505 0.00001
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser) rs587782800 0.00001
NM_000249.4(MLH1):c.79C>T (p.Arg27Trp) rs756398627 0.00001
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys) rs201931669 0.00001
NM_000249.4(MLH1):c.863C>T (p.Thr288Ile) rs786203878 0.00001
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser) rs63750547 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000251.3(MSH2):c.1076+12G>C rs755616171 0.00001
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg) rs776174711 0.00001
NM_000251.3(MSH2):c.1148G>A (p.Arg383Gln) rs376934727 0.00001
NM_000251.3(MSH2):c.115C>A (p.Arg39=) rs786202334 0.00001
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr) rs878853798 0.00001
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met) rs751431238 0.00001
NM_000251.3(MSH2):c.1316C>T (p.Pro439Leu) rs771789692 0.00001
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn) rs587781331 0.00001
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val) rs755501968 0.00001
NM_000251.3(MSH2):c.1511-12T>C rs539257378 0.00001
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile) rs864622079 0.00001
NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys) rs587779963 0.00001
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser) rs747504492 0.00001
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg) rs779447213 0.00001
NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly) rs772991620 0.00001
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val) rs771695599 0.00001
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr) rs864622093 0.00001
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys) rs374840361 0.00001
NM_000251.3(MSH2):c.192C>G (p.Ile64Met) rs1395172053 0.00001
NM_000251.3(MSH2):c.199A>G (p.Met67Val) rs768824654 0.00001
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln) rs1203462814 0.00001
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val) rs755920849 0.00001
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile) rs63750790 0.00001
NM_000251.3(MSH2):c.2164G>A (p.Val722Ile) rs587781996 0.00001
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr) rs772662439 0.00001
NM_000251.3(MSH2):c.220A>C (p.Asn74His) rs150548839 0.00001
NM_000251.3(MSH2):c.2211-7G>A rs764972956 0.00001
NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala) rs876660738 0.00001
NM_000251.3(MSH2):c.2407A>G (p.Thr803Ala) rs63751168 0.00001
NM_000251.3(MSH2):c.2437A>G (p.Met813Val) rs63749841 0.00001
NM_000251.3(MSH2):c.2458+4T>C rs1038735071 0.00001
NM_000251.3(MSH2):c.2571T>G (p.Ile857Met) rs1400051085 0.00001
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu) rs730881772 0.00001
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met) rs768983827 0.00001
NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu) rs1290935051 0.00001
NM_000251.3(MSH2):c.266T>C (p.Val89Ala) rs876659747 0.00001
NM_000251.3(MSH2):c.286C>T (p.Arg96Cys) rs1443234544 0.00001
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys) rs587779971 0.00001
NM_000251.3(MSH2):c.366+4A>C rs876659880 0.00001
NM_000251.3(MSH2):c.395A>T (p.Glu132Val) rs1486720679 0.00001
NM_000251.3(MSH2):c.476G>T (p.Arg159Ile) rs786202921 0.00001
NM_000251.3(MSH2):c.509A>G (p.Gln170Arg) rs1114167865 0.00001
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly) rs141021599 0.00001
NM_000251.3(MSH2):c.574A>T (p.Ile192Phe) rs768006988 0.00001
NM_000251.3(MSH2):c.589A>C (p.Lys197Gln) rs778573140 0.00001
NM_000251.3(MSH2):c.646-13T>C rs761205332 0.00001
NM_000251.3(MSH2):c.646-3T>C rs267607930 0.00001
NM_000251.3(MSH2):c.700A>G (p.Thr234Ala) rs1212577306 0.00001
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483 0.00001
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln) rs63751455 0.00001
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu) rs587779178 0.00001
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser) rs587781294 0.00001
NM_000251.3(MSH2):c.814G>A (p.Ala272Thr) rs1558463956 0.00001
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800 0.00001
NM_000256.3(MYBPC3):c.112G>A (p.Val38Met) rs1299024877 0.00001
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser) rs727505266 0.00001
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923 0.00001
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr) rs397515941 0.00001
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln) rs761696555 0.00001
NM_000256.3(MYBPC3):c.3568C>T (p.Arg1190Cys) rs755160084 0.00001
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln) rs762225417 0.00001
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys) rs771771163 0.00001
NM_000257.4(MYH7):c.201+13C>T rs781529698 0.00001
NM_000257.4(MYH7):c.2044+18G>A rs1406715881 0.00001
NM_000257.4(MYH7):c.2286+7A>G rs758365123 0.00001
NM_000257.4(MYH7):c.2286G>A (p.Lys762=) rs958169569 0.00001
NM_000257.4(MYH7):c.22G>A (p.Val8Ile) rs754388460 0.00001
NM_000257.4(MYH7):c.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.2908G>A (p.Ala970Thr) rs1446657813 0.00001
NM_000257.4(MYH7):c.3245+2T>G rs113859723 0.00001
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388 0.00001
NM_000257.4(MYH7):c.3407G>A (p.Arg1136His) rs730880905 0.00001
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu) rs546586969 0.00001
NM_000257.4(MYH7):c.3781A>C (p.Ser1261Arg) rs193922389 0.00001
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys) rs730880785 0.00001
NM_000257.4(MYH7):c.4424G>A (p.Arg1475His) rs1176998293 0.00001
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys) rs750987717 0.00001
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys) rs377461670 0.00001
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys) rs397516245 0.00001
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr) rs149193520 0.00001
NM_000258.3(MYL3):c.235G>A (p.Val79Ile) rs150634297 0.00001
NM_000258.3(MYL3):c.517A>G (p.Met173Val) rs199474708 0.00001
NM_000260.4(MYO7A):c.2467C>T (p.Arg823Cys) rs995330889 0.00001
NM_000260.4(MYO7A):c.338T>C (p.Ile113Thr) rs1168387013 0.00001
NM_000260.4(MYO7A):c.3750+4C>T rs764701863 0.00001
NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser) rs535102352 0.00001
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro) rs1215582852 0.00001
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln) rs904118831 0.00001
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile) rs764452721 0.00001
NM_000264.5(PTCH1):c.2936A>G (p.Asn979Ser) rs758907408 0.00001
NM_000264.5(PTCH1):c.394+6_394+17del rs774338309 0.00001
NM_000271.5(NPC1):c.1870G>A (p.Val624Ile) rs76615690 0.00001
NM_000271.5(NPC1):c.1883A>G (p.Tyr628Cys) rs2058768795 0.00001
NM_000271.5(NPC1):c.2596A>G (p.Met866Val) rs771088243 0.00001
NM_000271.5(NPC1):c.302T>G (p.Phe101Cys) rs548191894 0.00001
NM_000271.5(NPC1):c.83A>G (p.Tyr28Cys) rs1232191827 0.00001
NM_000275.3(OCA2):c.1064C>T (p.Ala355Val) rs570914443 0.00001
NM_000275.3(OCA2):c.1322A>G (p.Asp441Gly) rs147816326 0.00001
NM_000275.3(OCA2):c.1378C>T (p.Leu460Phe) rs748692597 0.00001
NM_000276.4(OCRL):c.1009C>T (p.Arg337Cys) rs137853831 0.00001
NM_000277.3(PAH):c.176A>T (p.Asp59Val) rs199475672 0.00001
NM_000277.3(PAH):c.532G>A (p.Glu178Lys) rs1448720360 0.00001
NM_000277.3(PAH):c.969+6T>A rs62517196 0.00001
NM_000282.4(PCCA):c.223G>C (p.Ala75Pro) rs794727479 0.00001
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro) rs774457925 0.00001
NM_000284.4(PDHA1):c.900-2dup rs779132922 0.00001
NM_000285.4(PEPD):c.563C>T (p.Thr188Met) rs141623136 0.00001
NM_000289.6(PFKM):c.733C>T (p.Arg245Cys) rs1592742248 0.00001
NM_000292.3(PHKA2):c.3601T>C (p.Tyr1201His) rs373407231 0.00001
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr) rs749441642 0.00001
NM_000294.3(PHKG2):c.1099C>T (p.Gln367Ter) rs1320107162 0.00001
NM_000294.3(PHKG2):c.643G>A (p.Asp215Asn) rs767427889 0.00001
NM_000302.4(PLOD1):c.1027G>A (p.Glu343Lys) rs748344499 0.00001
NM_000302.4(PLOD1):c.740A>G (p.Lys247Arg) rs762431149 0.00001
NM_000302.4(PLOD1):c.741+4G>C rs763641520 0.00001
NM_000302.4(PLOD1):c.95C>T (p.Thr32Met) rs374597380 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.52A>C (p.Thr18Pro) rs757040733 0.00001
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser) rs949271895 0.00001
NM_000305.3(PON2):c.293G>A (p.Arg98Gln) rs374262764 0.00001
NM_000310.4(PPT1):c.433G>C (p.Gly145Arg) rs369186379 0.00001
NM_000314.6(PTEN):c.-912T>C rs535142665 0.00001
NM_000314.6(PTEN):c.-923C>T rs786204936 0.00001
NM_000314.6(PTEN):c.-927C>G rs1158800882 0.00001
NM_000314.8(PTEN):c.-796C>T rs1217530014 0.00001
NM_000314.8(PTEN):c.635-8C>A rs780495238 0.00001
NM_000314.8(PTEN):c.801+8C>G rs1057517630 0.00001
NM_000317.3(PTS):c.347A>G (p.Asp116Gly) rs104894279 0.00001
NM_000318.3(PEX2):c.782A>G (p.His261Arg) rs749956542 0.00001
NM_000321.3(RB1):c.-149G>T rs1014776340 0.00001
NM_000321.3(RB1):c.1024A>T (p.Thr342Ser) rs751263356 0.00001
NM_000329.3(RPE65):c.1189A>G (p.Ser397Gly) rs749942889 0.00001
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000330.4(RS1):c.554C>T (p.Thr185Met) rs61753173 0.00001
NM_000334.4(SCN4A):c.4270G>A (p.Val1424Ile) rs375844960 0.00001
NM_000334.4(SCN4A):c.4742A>G (p.Tyr1581Cys) rs912147252 0.00001
NM_000335.5(SCN5A):c.1018C>T (p.Arg340Trp) rs199473094 0.00001
NM_000335.5(SCN5A):c.1190T>C (p.Ile397Thr) rs199473105 0.00001
NM_000335.5(SCN5A):c.1338+18C>T rs761031894 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.1981C>T (p.Arg661Trp) rs199473139 0.00001
NM_000335.5(SCN5A):c.2081A>G (p.Tyr694Cys) rs1438675647 0.00001
NM_000335.5(SCN5A):c.210T>G (p.Asn70Lys) rs199473050 0.00001
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582 0.00001
NM_000335.5(SCN5A):c.2251G>A (p.Val751Ile) rs772681454 0.00001
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His) rs566251672 0.00001
NM_000335.5(SCN5A):c.2431C>T (p.Arg811Cys) rs794728864 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met) rs527480102 0.00001
NM_000335.5(SCN5A):c.3561G>T (p.Gly1187=) rs17221875 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.5065G>A (p.Asp1689Asn) rs1060499900 0.00001
NM_000335.5(SCN5A):c.6024C>G (p.Asp2008Glu) rs757114635 0.00001
NM_000335.5(SCN5A):c.610G>A (p.Ala204Thr) rs1378168869 0.00001
NM_000335.5(SCN5A):c.703+11G>A rs779138392 0.00001
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro) rs199473564 0.00001
NM_000337.6(SGCD):c.193-12G>T rs727503421 0.00001
NM_000337.6(SGCD):c.31C>T (p.Arg11Trp) rs566181541 0.00001
NM_000337.6(SGCD):c.340A>G (p.Ile114Val) rs760206240 0.00001
NM_000338.3(SLC12A1):c.2755G>C (p.Asp919His) rs772842522 0.00001
NM_000338.3(SLC12A1):c.595C>T (p.Arg199Cys) rs780448089 0.00001
NM_000344.4(SMN1):c.835-33T>G rs1335244738 0.00001
NM_000344.4(SMN1):c.835-3C>T rs772466166 0.00001
NM_000350.3(ABCA4):c.2042G>A (p.Arg681Gln) rs761380652 0.00001
NM_000350.3(ABCA4):c.3005G>A (p.Arg1002Gln) rs752000268 0.00001
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe) rs542947894 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.1801G>A (p.Val601Ile) rs1955813180 0.00001
NM_000352.6(ABCC8):c.2391-6C>T rs556416038 0.00001
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658 0.00001
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser) rs137852673 0.00001
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser) rs773448052 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.886G>A (p.Gly296Arg) rs148529020 0.00001
NM_000359.3(TGM1):c.1075G>A (p.Val359Met) rs202037016 0.00001
NM_000359.3(TGM1):c.2180G>A (p.Arg727Gln) rs775373347 0.00001
NM_000359.3(TGM1):c.412G>A (p.Glu138Lys) rs765478385 0.00001
NM_000363.5(TNNI3):c.322G>A (p.Asp108Asn) rs766958196 0.00001
NM_000363.5(TNNI3):c.34C>T (p.Pro12Ser) rs553214254 0.00001
NM_000363.5(TNNI3):c.373-17C>T rs769481190 0.00001
NM_000363.5(TNNI3):c.550-12G>A rs754944128 0.00001
NM_000363.5(TNNI3):c.632G>T (p.Ter211Leu) rs730881084 0.00001
NM_000368.5(TSC1):c.3436G>T (p.Asp1146Tyr) rs397514806 0.00001
NM_000369.5(TSHR):c.692+3G>A rs552128204 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000371.4(TTR):c.69G>A (p.Thr23=) rs752579437 0.00001
NM_000384.3(APOB):c.10535C>T (p.Thr3512Ile) rs145861016 0.00001
NM_000388.4(CASR):c.106G>A (p.Gly36Arg) rs193922420 0.00001
NM_000388.4(CASR):c.1367A>G (p.Glu456Gly) rs2074639185 0.00001
NM_000388.4(CASR):c.1861G>A (p.Val621Met) rs751538967 0.00001
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662 0.00001
NM_000388.4(CASR):c.2638G>A (p.Ala880Thr) rs763865303 0.00001
NM_000391.4(TPP1):c.1076-17C>T rs1258440716 0.00001
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) rs1314521780 0.00001
NM_000393.5(COL5A2):c.1352C>T (p.Ser451Phe) rs778385867 0.00001
NM_000393.5(COL5A2):c.1563+5A>G rs777118100 0.00001
NM_000393.5(COL5A2):c.4217A>G (p.Lys1406Arg) rs754932150 0.00001
NM_000393.5(COL5A2):c.690+17T>C rs1171215082 0.00001
NM_000396.4(CTSK):c.235G>A (p.Gly79Arg) rs750609110 0.00001
NM_000400.4(ERCC2):c.1963G>T (p.Asp655Tyr) rs1411740455 0.00001
NM_000400.4(ERCC2):c.1A>G (p.Met1Val) rs757252017 0.00001
NM_000400.4(ERCC2):c.2041G>A (p.Asp681Asn) rs121913023 0.00001
NM_000400.4(ERCC2):c.2137G>C (p.Gly713Arg) rs121913022 0.00001
NM_000400.4(ERCC2):c.732C>G (p.Ile244Met) rs373375265 0.00001
NM_000404.4(GLB1):c.785G>C (p.Gly262Ala) rs377174858 0.00001
NM_000404.4(GLB1):c.809A>G (p.Tyr270Cys) rs371546950 0.00001
NM_000410.4(HFE):c.196C>T (p.Arg66Cys) rs747739169 0.00001
NM_000410.4(HFE):c.283G>C (p.Asp95His) rs750836160 0.00001
NM_000414.4(HSD17B4):c.1992G>C (p.Trp664Cys) rs752858179 0.00001
NM_000414.4(HSD17B4):c.751C>T (p.Arg251Trp) rs771780974 0.00001
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val) rs778059153 0.00001
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) rs920771326 0.00001
NM_000426.4(LAMA2):c.554G>T (p.Arg185Leu) rs150586612 0.00001
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) rs779326725 0.00001
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro) rs121913570 0.00001
NM_000430.4(PAFAH1B1):c.1046G>A (p.Gly349Glu) rs1480224569 0.00001
NM_000434.4(NEU1):c.869G>A (p.Arg290Gln) rs758877243 0.00001
NM_000434.4(NEU1):c.914G>A (p.Arg305His) rs774362886 0.00001
NM_000441.2(SLC26A4):c.1146C>G (p.Asn382Lys) rs780791787 0.00001
NM_000441.2(SLC26A4):c.1243A>G (p.Ser415Gly) rs756818321 0.00001
NM_000441.2(SLC26A4):c.1265T>G (p.Val422Gly) rs1057520369 0.00001
NM_000441.2(SLC26A4):c.1730T>C (p.Val577Ala) rs56017519 0.00001
NM_000441.2(SLC26A4):c.2228T>C (p.Leu743Ser) rs1057517303 0.00001
NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro) rs1057518810 0.00001
NM_000441.2(SLC26A4):c.397T>C (p.Ser133Pro) rs121908365 0.00001
NM_000441.2(SLC26A4):c.921G>A (p.Thr307=) rs765644650 0.00001
NM_000443.4(ABCB4):c.1217G>A (p.Arg406Gln) rs763807769 0.00001
NM_000443.4(ABCB4):c.2000C>T (p.Thr667Ile) rs756777858 0.00001
NM_000443.4(ABCB4):c.602C>T (p.Thr201Met) rs753318087 0.00001
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val) rs1554944856 0.00001
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) rs768860215 0.00001
NM_000451.4(SHOX):c.199C>T (p.Pro67Ser) rs200663078 0.00001
NM_000451.4(SHOX):c.414G>C (p.Glu138Asp) rs750602920 0.00001
NM_000455.5(STK11):c.-1C>T rs759284466 0.00001
NM_000455.5(STK11):c.1015C>G (p.Pro339Ala) rs769644352 0.00001
NM_000455.5(STK11):c.1016C>T (p.Pro339Leu) rs567896256 0.00001
NM_000455.5(STK11):c.1036G>A (p.Gly346Ser) rs375431906 0.00001
NM_000455.5(STK11):c.1135C>A (p.His379Asn) rs762124698 0.00001
NM_000455.5(STK11):c.1142G>C (p.Gly381Ala) rs765419233 0.00001
NM_000455.5(STK11):c.1147C>T (p.Arg383Cys) rs535449626 0.00001
NM_000455.5(STK11):c.1148G>A (p.Arg383His) rs730881990 0.00001
NM_000455.5(STK11):c.1151G>A (p.Arg384Gln) rs371102112 0.00001
NM_000455.5(STK11):c.116G>T (p.Arg39Leu) rs786203250 0.00001
NM_000455.5(STK11):c.1175T>C (p.Met392Thr) rs876661013 0.00001
NM_000455.5(STK11):c.1189G>T (p.Ala397Ser) rs587780008 0.00001
NM_000455.5(STK11):c.1217C>T (p.Ala406Val) rs748202003 0.00001
NM_000455.5(STK11):c.1248G>C (p.Lys416Asn) rs1459406168 0.00001
NM_000455.5(STK11):c.1276C>T (p.Arg426Trp) rs587782687 0.00001
NM_000455.5(STK11):c.299A>G (p.Gln100Arg) rs1060499957 0.00001
NM_000455.5(STK11):c.358G>A (p.Glu120Lys) rs775595174 0.00001
NM_000455.5(STK11):c.427G>A (p.Val143Met) rs779987540 0.00001
NM_000455.5(STK11):c.434A>G (p.Glu145Gly) rs369764220 0.00001
NM_000455.5(STK11):c.449T>C (p.Val150Ala) rs587781802 0.00001
NM_000455.5(STK11):c.464+8del rs878853989 0.00001
NM_000455.5(STK11):c.839C>T (p.Pro280Leu) rs1356762205 0.00001
NM_000455.5(STK11):c.921-9C>T rs761688641 0.00001
NM_000455.5(STK11):c.947C>G (p.Ala316Gly) rs751709130 0.00001
NM_000455.5(STK11):c.94A>G (p.Thr32Ala) rs755210880 0.00001
NM_000455.5(STK11):c.991C>T (p.Arg331Trp) rs876658594 0.00001
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val) rs1283652721 0.00001
NM_000465.4(BARD1):c.1007G>A (p.Cys336Tyr) rs779527817 0.00001
NM_000465.4(BARD1):c.1009A>G (p.Arg337Gly) rs1016845338 0.00001
NM_000465.4(BARD1):c.1013C>A (p.Thr338Asn) rs587781313 0.00001
NM_000465.4(BARD1):c.1016G>A (p.Ser339Asn) rs201261729 0.00001
NM_000465.4(BARD1):c.1055T>C (p.Val352Ala) rs773918507 0.00001
NM_000465.4(BARD1):c.1138A>G (p.Asn380Asp) rs876658971 0.00001
NM_000465.4(BARD1):c.1159T>C (p.Phe387Leu) rs759370463 0.00001
NM_000465.4(BARD1):c.1265T>C (p.Val422Ala) rs76824305 0.00001
NM_000465.4(BARD1):c.1360C>G (p.Pro454Ala) rs730881408 0.00001
NM_000465.4(BARD1):c.1544C>G (p.Ser515Cys) rs746878509 0.00001
NM_000465.4(BARD1):c.1568+10T>G rs1375582645 0.00001
NM_000465.4(BARD1):c.1718T>C (p.Ile573Thr) rs587780022 0.00001
NM_000465.4(BARD1):c.1721G>T (p.Gly574Val) rs1218730514 0.00001
NM_000465.4(BARD1):c.1808C>A (p.Thr603Lys) rs730881421 0.00001
NM_000465.4(BARD1):c.1960C>T (p.Pro654Ser) rs876658741 0.00001
NM_000465.4(BARD1):c.2054A>G (p.His685Arg) rs368488821 0.00001
NM_000465.4(BARD1):c.2066A>G (p.Asp689Gly) rs1060501312 0.00001
NM_000465.4(BARD1):c.2129A>T (p.Asp710Val) rs150121935 0.00001
NM_000465.4(BARD1):c.2146A>G (p.Thr716Ala) rs878854006 0.00001
NM_000465.4(BARD1):c.2209A>G (p.Ile737Val) rs761655616 0.00001
NM_000465.4(BARD1):c.2255A>G (p.Gln752Arg) rs755369095 0.00001
NM_000465.4(BARD1):c.2294A>G (p.Asp765Gly) rs730881426 0.00001
NM_000465.4(BARD1):c.2324T>A (p.Leu775His) rs907023461 0.00001
NM_000465.4(BARD1):c.2324_2325del (p.Leu775fs) rs587782046 0.00001
NM_000465.4(BARD1):c.335G>A (p.Arg112Gln) rs587781591 0.00001
NM_000465.4(BARD1):c.382C>T (p.Pro128Ser) rs878854011 0.00001
NM_000465.4(BARD1):c.427A>G (p.Ile143Val) rs1060501289 0.00001
NM_000465.4(BARD1):c.449G>A (p.Arg150Gln) rs730881412 0.00001
NM_000465.4(BARD1):c.49G>A (p.Gly17Arg) rs746495820 0.00001
NM_000465.4(BARD1):c.54C>G (p.Asn18Lys) rs587780032 0.00001
NM_000465.4(BARD1):c.583G>T (p.Ala195Ser) rs755641562 0.00001
NM_000465.4(BARD1):c.586A>G (p.Lys196Glu) rs376259263 0.00001
NM_000465.4(BARD1):c.614A>G (p.Lys205Arg) rs587782437 0.00001
NM_000465.4(BARD1):c.65C>T (p.Ser22Phe) rs876659724 0.00001
NM_000465.4(BARD1):c.928T>G (p.Ser310Ala) rs886041139 0.00001
NM_000465.4(BARD1):c.964C>T (p.Arg322Cys) rs786203129 0.00001
NM_000465.4(BARD1):c.965G>A (p.Arg322His) rs774251286 0.00001
NM_000466.3(PEX1):c.3823C>T (p.Arg1275Ter) rs755549316 0.00001
NM_000475.5(NR0B1):c.59C>G (p.Ala20Gly) rs745852247 0.00001
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp) rs1400042777 0.00001
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) rs150799088 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.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000478.6(ALPL):c.650T>C (p.Val217Ala) rs777699004 0.00001
NM_000487.6(ARSA):c.1156C>T (p.Arg386Cys) rs199476370 0.00001
NM_000487.6(ARSA):c.135C>A (p.Ser45Arg) rs375493957 0.00001
NM_000487.6(ARSA):c.1471T>G (p.Cys491Gly) rs199476388 0.00001
NM_000487.6(ARSA):c.989A>G (p.His330Arg) rs1359332879 0.00001
NM_000489.6(ATRX):c.1253G>A (p.Arg418Gln) rs1557142053 0.00001
NM_000489.6(ATRX):c.2348G>C (p.Ser783Thr) rs782530243 0.00001
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg) rs1569528833 0.00001
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys) rs397508147 0.00001
NM_000492.4(CFTR):c.1133A>G (p.Gln378Arg) rs768589673 0.00001
NM_000492.4(CFTR):c.1209+6A>G rs749054857 0.00001
NM_000492.4(CFTR):c.1209+7A>T rs767301152 0.00001
NM_000492.4(CFTR):c.1219G>A (p.Glu407Lys) rs766063304 0.00001
NM_000492.4(CFTR):c.1343T>C (p.Ile448Thr) rs748642635 0.00001
NM_000492.4(CFTR):c.1407G>T (p.Met469Ile) rs143218779 0.00001
NM_000492.4(CFTR):c.142A>C (p.Asn48His) rs1248202161 0.00001
NM_000492.4(CFTR):c.1437G>C (p.Glu479Asp) rs754152822 0.00001
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680 0.00001
NM_000492.4(CFTR):c.149C>A (p.Ser50Tyr) rs397508220 0.00001
NM_000492.4(CFTR):c.1601C>A (p.Ala534Glu) rs387906368 0.00001
NM_000492.4(CFTR):c.1606A>G (p.Lys536Glu) rs148173473 0.00001
NM_000492.4(CFTR):c.1616T>C (p.Ile539Thr) rs144745159 0.00001
NM_000492.4(CFTR):c.1811C>G (p.Thr604Ser) rs397508308 0.00001
NM_000492.4(CFTR):c.2126G>A (p.Arg709Gln) rs397508342 0.00001
NM_000492.4(CFTR):c.2168G>T (p.Gly723Val) rs200531709 0.00001
NM_000492.4(CFTR):c.2291G>A (p.Arg764Gln) rs1417904716 0.00001
NM_000492.4(CFTR):c.2410G>A (p.Glu804Lys) rs1792049376 0.00001
NM_000492.4(CFTR):c.2417A>G (p.Asp806Gly) rs397508375 0.00001
NM_000492.4(CFTR):c.2428A>G (p.Arg810Gly) rs377447726 0.00001
NM_000492.4(CFTR):c.2433G>T (p.Arg811Ser) rs778688276 0.00001
NM_000492.4(CFTR):c.2469A>T (p.Glu823Asp) rs777667933 0.00001
NM_000492.4(CFTR):c.260T>C (p.Phe87Ser) rs1310658028 0.00001
NM_000492.4(CFTR):c.2627C>T (p.Ala876Val) rs1472821278 0.00001
NM_000492.4(CFTR):c.266A>G (p.Tyr89Cys) rs397508418 0.00001
NM_000492.4(CFTR):c.2672A>G (p.Asp891Gly) rs766181463 0.00001
NM_000492.4(CFTR):c.2723C>A (p.Thr908Asn) rs369521395 0.00001
NM_000492.4(CFTR):c.273+4A>G rs387906374 0.00001
NM_000492.4(CFTR):c.274-13T>C rs1021474992 0.00001
NM_000492.4(CFTR):c.2846A>T (p.His949Leu) rs397508444 0.00001
NM_000492.4(CFTR):c.2876C>T (p.Ala959Val) rs397508448 0.00001
NM_000492.4(CFTR):c.2908+4C>A rs372266030 0.00001
NM_000492.4(CFTR):c.2909-99del rs1213436263 0.00001
NM_000492.4(CFTR):c.2946T>G (p.Ile982Met) rs748430234 0.00001
NM_000492.4(CFTR):c.2973A>G (p.Ile991Met) rs370181570 0.00001
NM_000492.4(CFTR):c.2981T>G (p.Phe994Cys) rs397508469 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.3139+19G>A rs751210436 0.00001
NM_000492.4(CFTR):c.3139+3A>G rs950336425 0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile) rs140883683 0.00001
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys) rs150020260 0.00001
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys) rs764434414 0.00001
NM_000492.4(CFTR):c.3368-20C>T rs761144879 0.00001
NM_000492.4(CFTR):c.3380G>A (p.Gly1127Glu) rs1434504483 0.00001
NM_000492.4(CFTR):c.3382A>G (p.Arg1128Gly) rs397508549 0.00001
NM_000492.4(CFTR):c.3391A>G (p.Ile1131Val) rs755472768 0.00001
NM_000492.4(CFTR):c.3406G>A (p.Ala1136Thr) rs755968404 0.00001
NM_000492.4(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044 0.00001
NM_000492.4(CFTR):c.3444C>A (p.Asn1148Lys) rs397508565 0.00001
NM_000492.4(CFTR):c.3468+6T>C rs547442588 0.00001
NM_000492.4(CFTR):c.3562T>C (p.Ser1188Pro) rs762167681 0.00001
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395 0.00001
NM_000492.4(CFTR):c.3674C>T (p.Ala1225Val) rs770358073 0.00001
NM_000492.4(CFTR):c.3713A>G (p.Gln1238Arg) rs397508594 0.00001
NM_000492.4(CFTR):c.3763T>A (p.Ser1255Thr) rs121909041 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.3803A>G (p.Gln1268Arg) rs766370233 0.00001
NM_000492.4(CFTR):c.3868C>A (p.Pro1290Thr) rs397508619 0.00001
NM_000492.4(CFTR):c.3925C>G (p.Gln1309Glu) rs193922732 0.00001
NM_000492.4(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646 0.00001
NM_000492.4(CFTR):c.3963+6G>T rs1793110791 0.00001
NM_000492.4(CFTR):c.4033G>A (p.Val1345Ile) rs1371379517 0.00001
NM_000492.4(CFTR):c.4048C>T (p.His1350Tyr) rs955306189 0.00001
NM_000492.4(CFTR):c.4064G>T (p.Cys1355Phe) rs755028771 0.00001
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674 0.00001
NM_000492.4(CFTR):c.4115C>T (p.Pro1372Leu) rs397508677 0.00001
NM_000492.4(CFTR):c.4136+52del rs779110970 0.00001
NM_000492.4(CFTR):c.4137-7T>C rs1400171855 0.00001
NM_000492.4(CFTR):c.4193T>G (p.Ile1398Ser) rs397508692 0.00001
NM_000492.4(CFTR):c.4207A>G (p.Arg1403Gly) rs970498675 0.00001
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys) rs397508699 0.00001
NM_000492.4(CFTR):c.4237T>C (p.Phe1413Leu) rs142092183 0.00001
NM_000492.4(CFTR):c.4276T>C (p.Ser1426Pro) rs397508708 0.00001
NM_000492.4(CFTR):c.4277C>T (p.Ser1426Phe) rs762847468 0.00001
NM_000492.4(CFTR):c.4297G>A (p.Glu1433Lys) rs750559671 0.00001
NM_000492.4(CFTR):c.4312C>T (p.Arg1438Trp) rs397508711 0.00001
NM_000492.4(CFTR):c.4313G>A (p.Arg1438Gln) rs975983947 0.00001
NM_000492.4(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166 0.00001
NM_000492.4(CFTR):c.473G>C (p.Ser158Thr) rs397508725 0.00001
NM_000492.4(CFTR):c.529A>T (p.Ile177Phe) rs1267579802 0.00001
NM_000492.4(CFTR):c.530T>C (p.Ile177Thr) rs397508747 0.00001
NM_000492.4(CFTR):c.538C>G (p.Leu180Val) rs374163420 0.00001
NM_000492.4(CFTR):c.579+4del rs745591601 0.00001
NM_000492.4(CFTR):c.581G>T (p.Gly194Val) rs397508763 0.00001
NM_000492.4(CFTR):c.625G>T (p.Ala209Ser) rs397508772 0.00001
NM_000492.4(CFTR):c.721G>A (p.Gly241Arg) rs397508789 0.00001
NM_000492.4(CFTR):c.773G>T (p.Arg258Ile) rs377514639 0.00001
NM_000492.4(CFTR):c.859A>T (p.Asn287Tyr) rs397508804 0.00001
NM_000492.4(CFTR):c.869+14A>G rs1554380834 0.00001
NM_000492.4(CFTR):c.925G>A (p.Ala309Thr) rs148013312 0.00001
NM_000492.4(CFTR):c.944T>C (p.Phe315Ser) rs760319837 0.00001
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe) rs56093012 0.00001
NM_000492.4(CFTR):c.980T>G (p.Leu327Arg) rs141115171 0.00001
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn) rs397508825 0.00001
NM_000500.9(CYP21A2):c.49C>T (p.Arg17Cys) rs757608533 0.00001
NM_000512.5(GALNS):c.758G>A (p.Arg253Gln) rs769560969 0.00001
NM_000512.5(GALNS):c.910G>A (p.Gly304Ser) rs764070268 0.00001
NM_000517.6(HBA2):c.391G>C (p.Ala131Pro) rs41529844 0.00001
NM_000518.4(HBB):c.149C>T (p.Ser50Phe) rs33960931 0.00001
NM_000518.4(HBB):c.371C>A (p.Thr124Asn) rs33935383 0.00001
NM_000518.4(HBB):c.44T>C (p.Leu15Pro) rs33935445 0.00001
NM_000518.5(HBB):c.*104G>A rs1564873881 0.00001
NM_000518.5(HBB):c.*62A>G rs1046868746 0.00001
NM_000518.5(HBB):c.*74A>G rs369101035 0.00001
NM_000518.5(HBB):c.*97G>C rs770911771 0.00001
NM_000518.5(HBB):c.-100G>A rs281864524 0.00001
NM_000518.5(HBB):c.-122T>A rs1272414751 0.00001
NM_000518.5(HBB):c.-4C>T rs1035531758 0.00001
NM_000518.5(HBB):c.309C>A (p.Asn103Lys) rs34227486 0.00001
NM_000518.5(HBB):c.316-102C>A rs1468940510 0.00001
NM_000518.5(HBB):c.316-114C>A rs1003790835 0.00001
NM_000518.5(HBB):c.316-124A>T rs1184042209 0.00001
NM_000518.5(HBB):c.316-130T>C rs956857115 0.00001
NM_000518.5(HBB):c.316-145G>A rs1005042281 0.00001
NM_000518.5(HBB):c.316-99T>G rs1232651664 0.00001
NM_000518.5(HBB):c.341T>A (p.Val114Glu) rs34484056 0.00001
NM_000518.5(HBB):c.353A>G (p.His118Arg) rs33935673 0.00001
NM_000518.5(HBB):c.380T>C (p.Val127Ala) rs33925391 0.00001
NM_000518.5(HBB):c.93-15T>C rs35456885 0.00001
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln) rs745432499 0.00001
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln) rs759538325 0.00001
NM_000527.5(LDLR):c.1060+18C>A rs780579614 0.00001
NM_000527.5(LDLR):c.1186+10G>C rs781336025 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1420C>G (p.Gln474Glu) rs201967266 0.00001
NM_000527.5(LDLR):c.1587-11C>T rs201957233 0.00001
NM_000527.5(LDLR):c.1943C>T (p.Ser648Phe) rs1555807266 0.00001
NM_000527.5(LDLR):c.2075C>G (p.Pro692Arg) rs1568611894 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000527.5(LDLR):c.694+8C>T rs370855899 0.00001
NM_000527.5(LDLR):c.808T>C (p.Cys270Arg) rs879254682 0.00001
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.941-5C>T rs750183389 0.00001
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His) rs775247526 0.00001
NM_000531.6(OTC):c.374C>T (p.Thr125Met) rs72554356 0.00001
NM_000532.5(PCCB):c.182G>A (p.Arg61Gln) rs909550005 0.00001
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068 0.00001
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val) rs543676323 0.00001
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu) rs370066853 0.00001
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser) rs730881911 0.00001
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614 0.00001
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala) rs1339878885 0.00001
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291 0.00001
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602 0.00001
NM_000535.7(PMS2):c.1678T>A (p.Cys560Ser) rs370455197 0.00001
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val) rs770625733 0.00001
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala) rs758018736 0.00001
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.2000A>C (p.Glu667Ala) rs1404270894 0.00001
NM_000535.7(PMS2):c.2007-9T>C rs1194759833 0.00001
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr) rs587782553 0.00001
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val) rs1554295876 0.00001
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131 0.00001
NM_000535.7(PMS2):c.2175-9G>A rs1057522324 0.00001
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu) rs377259633 0.00001
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800 0.00001
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143 0.00001
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn) rs547715146 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser) rs754191682 0.00001
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys) rs587782828 0.00001
NM_000535.7(PMS2):c.251-9C>G rs1064793639 0.00001
NM_000535.7(PMS2):c.2526C>G (p.Asn842Lys) rs755478893 0.00001
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn) rs1395998044 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.353+3G>A rs766373982 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315 0.00001
NM_000535.7(PMS2):c.403C>G (p.Leu135Val) rs876658423 0.00001
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys) rs758561884 0.00001
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe) rs730881908 0.00001
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg) rs1173245928 0.00001
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157 0.00001
NM_000535.7(PMS2):c.778T>A (p.Ser260Thr) rs1259974071 0.00001
NM_000535.7(PMS2):c.803+9A>G rs1784516917 0.00001
NM_000535.7(PMS2):c.804-15A>G rs1448706115 0.00001
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981 0.00001
NM_000535.7(PMS2):c.934A>G (p.Met312Val) rs786202567 0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000536.4(RAG2):c.1006A>G (p.Lys336Glu) rs1490516072 0.00001
NM_000536.4(RAG2):c.1309G>A (p.Glu437Lys) rs193922573 0.00001
NM_000540.3(RYR1):c.1100G>A (p.Arg367Gln) rs113332073 0.00001
NM_000540.3(RYR1):c.1739A>G (p.Asn580Ser) rs373301841 0.00001
NM_000540.3(RYR1):c.3014G>A (p.Ser1005Asn) rs780145264 0.00001
NM_000540.3(RYR1):c.328C>T (p.His110Tyr) rs767777113 0.00001
NM_000540.3(RYR1):c.3535C>T (p.Arg1179Trp) rs763944786 0.00001
NM_000540.3(RYR1):c.6797-7C>T rs994688451 0.00001
NM_000540.3(RYR1):c.7076G>A (p.Arg2359Gln) rs1387126664 0.00001
NM_000540.3(RYR1):c.7446T>C (p.Asp2482=) rs374058542 0.00001
NM_000540.3(RYR1):c.8638G>A (p.Glu2880Lys) rs112772310 0.00001
NM_000540.3(RYR1):c.9413C>T (p.Pro3138Leu) rs762652935 0.00001
NM_000543.5(SMPD1):c.1427G>A (p.Arg476Gln) rs763566905 0.00001
NM_000543.5(SMPD1):c.1486G>A (p.Gly496Ser) rs1554935371 0.00001
NM_000543.5(SMPD1):c.1833C>G (p.His611Gln) rs1397949984 0.00001
NM_000543.5(SMPD1):c.305A>G (p.Asn102Ser) rs373475928 0.00001
NM_000545.8(HNF1A):c.1243G>A (p.Gly415Arg) rs368683806 0.00001
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser) rs200639058 0.00001
NM_000545.8(HNF1A):c.50T>A (p.Leu17His) rs1480672278 0.00001
NM_000545.8(HNF1A):c.626C>A (p.Ala209Glu) rs1286294151 0.00001
NM_000545.8(HNF1A):c.955G>A (p.Gly319Ser) rs137853240 0.00001
NM_000546.6(TP53):c.1066G>C (p.Gly356Arg) rs766786605 0.00001
NM_000546.6(TP53):c.1078G>A (p.Gly360Arg) rs786203298 0.00001
NM_000546.6(TP53):c.188C>T (p.Ala63Val) rs372201428 0.00001
NM_000546.6(TP53):c.328C>T (p.Arg110Cys) rs587781371 0.00001
NM_000546.6(TP53):c.376-2dup rs751253294 0.00001
NM_000546.6(TP53):c.523C>T (p.Arg175Cys) rs138729528 0.00001
NM_000546.6(TP53):c.587G>A (p.Arg196Gln) rs483352697 0.00001
NM_000546.6(TP53):c.800G>A (p.Arg267Gln) rs587780075 0.00001
NM_000546.6(TP53):c.919+7A>C rs199527475 0.00001
NM_000546.6(TP53):c.943T>A (p.Ser315Thr) rs762620193 0.00001
NM_000548.5(TSC2):c.*4C>T rs368282661 0.00001
NM_000548.5(TSC2):c.1463T>C (p.Val488Ala) rs760205499 0.00001
NM_000548.5(TSC2):c.1492G>A (p.Glu498Lys) rs45517178 0.00001
NM_000548.5(TSC2):c.3734G>A (p.Arg1245Gln) rs746588726 0.00001
NM_000548.5(TSC2):c.5299C>G (p.Leu1767Val) rs1051758 0.00001
NM_000551.4(VHL):c.338G>C (p.Arg113Pro) rs767062290 0.00001
NM_000551.4(VHL):c.538A>G (p.Ile180Val) rs377715747 0.00001
NM_000552.5(VWF):c.1319G>A (p.Cys440Tyr) rs372938917 0.00001
NM_000552.5(VWF):c.1730-5C>T rs569984866 0.00001
NM_000552.5(VWF):c.3320A>G (p.Tyr1107Cys) rs267607319 0.00001
NM_000552.5(VWF):c.4079T>C (p.Val1360Ala) rs267607338 0.00001
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000642.3(AGL):c.413G>A (p.Gly138Glu) rs773384152 0.00001
NM_000702.4(ATP1A2):c.2015C>T (p.Ser672Leu) rs145701604 0.00001
NM_000709.4(BCKDHA):c.836A>G (p.Tyr279Cys) rs367823977 0.00001
NM_000719.7(CACNA1C):c.2569C>G (p.Pro857Ala) rs1391136601 0.00001
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His) rs189719120 0.00001
NM_000733.4(CD3E):c.8C>T (p.Ser3Leu) rs771841066 0.00001
NM_000742.4(CHRNA2):c.724A>G (p.Ser242Gly) rs544814869 0.00001
NM_000784.4(CYP27A1):c.1342C>T (p.Arg448Cys) rs730882199 0.00001
NM_000784.4(CYP27A1):c.203T>G (p.Phe68Cys) rs587780327 0.00001
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr) rs759003992 0.00001
NM_000810.4(GABRA5):c.86+1G>A rs375945386 0.00001
NM_000814.6(GABRB3):c.1078C>T (p.Arg360Trp) rs771568810 0.00001
NM_000829.4(GRIA4):c.614A>G (p.Gln205Arg) rs769158689 0.00001
NM_000834.5(GRIN2B):c.998A>G (p.Asn333Ser) rs748965398 0.00001
NM_000875.5(IGF1R):c.-4A>G rs2052295004 0.00001
NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val) rs1389181295 0.00001
NM_000937.5(POLR2A):c.4223G>A (p.Arg1408His) rs1357998618 0.00001
NM_001003694.2(BRPF1):c.2441G>A (p.Arg814His) rs769038359 0.00001
NM_001003800.2(BICD2):c.2258+6C>T rs566572599 0.00001
NM_001005242.3(PKP2):c.1129A>G (p.Ile377Val) rs1565596114 0.00001
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1574G>A (p.Gly525Asp) rs898915439 0.00001
NM_001005242.3(PKP2):c.1985T>C (p.Leu662Pro) rs878854709 0.00001
NM_001005242.3(PKP2):c.224G>A (p.Gly75Glu) rs267603443 0.00001
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949 0.00001
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala) rs756604557 0.00001
NM_001005273.3(CHD3):c.1510G>A (p.Val504Met) rs752833740 0.00001
NM_001007553.3(CSDE1):c.989G>A (p.Arg330Gln) rs777390495 0.00001
NM_001008216.2(GALE):c.101A>G (p.Asn34Ser) rs121908046 0.00001
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp) rs764909409 0.00001
NM_001008537.3(NEXMIF):c.502G>A (p.Gly168Ser) rs771489500 0.00001
NM_001018005.2(TPM1):c.673A>G (p.Ile225Val) rs193922410 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001018113.3(FANCB):c.230T>C (p.Met77Thr) rs753536320 0.00001
NM_001018113.3(FANCB):c.2521A>G (p.Lys841Glu) rs767194178 0.00001
NM_001018115.3(FANCD2):c.2204G>A (p.Arg735Gln) rs755975980 0.00001
NM_001018115.3(FANCD2):c.4281+69G>A rs754606069 0.00001
NM_001025603.2(RFX5):c.37A>G (p.Thr13Ala) rs746726678 0.00001
NM_001032283.3(TMPO):c.565+1275A>G rs763320036 0.00001
NM_001032283.3(TMPO):c.565+2178G>A rs1343917914 0.00001
NM_001033855.3(DCLRE1C):c.251C>G (p.Ser84Cys) rs747849702 0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) rs1317003987 0.00001
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921 0.00001
NM_001035.3(RYR2):c.10142+4T>C rs397516496 0.00001
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His) rs368064371 0.00001
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu) rs375947003 0.00001
NM_001035.3(RYR2):c.11036A>G (p.Lys3679Arg) rs758125356 0.00001
NM_001035.3(RYR2):c.11484G>T (p.Lys3828Asn) rs1200279072 0.00001
NM_001035.3(RYR2):c.1170+10T>C rs760377600 0.00001
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg) rs762879895 0.00001
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser) rs886039213 0.00001
NM_001035.3(RYR2):c.14152-3T>C rs376797615 0.00001
NM_001035.3(RYR2):c.1526G>A (p.Ser509Asn) rs1558850631 0.00001
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln) rs754901791 0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868 0.00001
NM_001035.3(RYR2):c.284T>A (p.Val95Glu) rs900519025 0.00001
NM_001035.3(RYR2):c.463+10T>C rs193922627 0.00001
NM_001035.3(RYR2):c.5575G>A (p.Glu1859Lys) rs755584806 0.00001
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser) rs754811291 0.00001
NM_001035.3(RYR2):c.5916+9A>G rs1002006336 0.00001
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr) rs930769080 0.00001
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr) rs1177415020 0.00001
NM_001035.3(RYR2):c.773+18T>C rs758435186 0.00001
NM_001035.3(RYR2):c.7733+12A>C rs1024864893 0.00001
NM_001035.3(RYR2):c.8714+20A>G rs1176577543 0.00001
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu) rs745616771 0.00001
NM_001035.3(RYR2):c.9874G>A (p.Glu3292Lys) rs553445235 0.00001
NM_001037.5(SCN1B):c.374G>A (p.Arg125His) rs759839781 0.00001
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834 0.00001
NM_001039213.4(CEACAM16):c.623G>A (p.Ser208Asn) rs573717477 0.00001
NM_001039591.3(USP9X):c.437G>A (p.Arg146Lys) rs374612695 0.00001
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile) rs1307836828 0.00001
NM_001042492.3(NF1):c.1392+7T>C rs773017698 0.00001
NM_001042492.3(NF1):c.1549G>A (p.Glu517Lys) rs587778548 0.00001
NM_001042492.3(NF1):c.1769T>C (p.Met590Thr) rs761559887 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 0.00001
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr) rs778033578 0.00001
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala) rs748064845 0.00001
NM_001042492.3(NF1):c.2447G>A (p.Arg816Gln) rs762709897 0.00001
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956 0.00001
NM_001042492.3(NF1):c.4382T>C (p.Met1461Thr) rs754639587 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.5293A>G (p.Thr1765Ala) rs747584987 0.00001
NM_001042492.3(NF1):c.541C>G (p.Gln181Glu) rs753529924 0.00001
NM_001042492.3(NF1):c.5610-7C>T rs553657123 0.00001
NM_001042492.3(NF1):c.6322A>T (p.Thr2108Ser) rs1024333224 0.00001
NM_001042492.3(NF1):c.6819+6T>C rs1407700643 0.00001
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val) rs137966859 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7645T>C (p.Ser2549Pro) rs767458044 0.00001
NM_001042492.3(NF1):c.7822G>C (p.Glu2608Gln) rs1597866487 0.00001
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg) rs587781502 0.00001
NM_001042492.3(NF1):c.8378-4C>T rs587782700 0.00001
NM_001042492.3(NF1):c.83A>C (p.Gln28Pro) rs587782686 0.00001
NM_001042492.3(NF1):c.8446G>A (p.Gly2816Arg) rs778233452 0.00001
NM_001042545.2(LTBP4):c.1274G>A (p.Arg425His) rs566716472 0.00001
NM_001042545.2(LTBP4):c.1870C>T (p.Pro624Ser) rs903754296 0.00001
NM_001042681.2(RERE):c.2557G>A (p.Gly853Ser) rs1297285666 0.00001
NM_001044385.3(TMEM237):c.869+5T>C rs530769303 0.00001
NM_001048174.2(MUTYH):c.1217C>T (p.Thr406Met) rs587780084 0.00001
NM_001048174.2(MUTYH):c.1484G>A (p.Arg495His) rs374655042 0.00001
NM_001048174.2(MUTYH):c.170A>G (p.His57Arg) rs558707786 0.00001
NM_001048174.2(MUTYH):c.206G>A (p.Arg69Gln) rs755653922 0.00001
NM_001048174.2(MUTYH):c.293G>A (p.Arg98Gln) rs587781444 0.00001
NM_001048174.2(MUTYH):c.310G>A (p.Val104Ile) rs763273196 0.00001
NM_001048174.2(MUTYH):c.409G>A (p.Ala137Thr) rs201103359 0.00001
NM_001048174.2(MUTYH):c.427A>G (p.Asn143Asp) rs773674701 0.00001
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys) rs537292657 0.00001
NM_001048174.2(MUTYH):c.595G>A (p.Ala199Thr) rs369854269 0.00001
NM_001048174.2(MUTYH):c.635C>T (p.Ala212Val) rs369120013 0.00001
NM_001048174.2(MUTYH):c.796C>T (p.Arg266Cys) rs199840380 0.00001
NM_001048174.2(MUTYH):c.820G>T (p.Val274Leu) rs760889663 0.00001
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu) rs558173961 0.00001
NM_001048174.2(MUTYH):c.914-8G>A rs757672024 0.00001
NM_001063.4(TF):c.1180G>A (p.Glu394Lys) rs121918680 0.00001
NM_001077418.3(TMEM231):c.944T>G (p.Leu315Ter) rs756652972 0.00001
NM_001079.4(ZAP70):c.329C>T (p.Pro110Leu) rs1263938808 0.00001
NM_001079802.2(FKTN):c.1298C>T (p.Thr433Met) rs201590151 0.00001
NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met) rs775793638 0.00001
NM_001080414.4(CCDC88C):c.3904G>A (p.Glu1302Lys) rs761146967 0.00001
NM_001082486.2(ACD):c.124G>A (p.Val42Ile) rs758513965 0.00001
NM_001082538.3(TCTN1):c.1034C>T (p.Ser345Leu) rs764428510 0.00001
NM_001082971.2(DDC):c.710T>C (p.Phe237Ser) rs755511614 0.00001
NM_001082971.2(DDC):c.73G>A (p.Glu25Lys) rs756869400 0.00001
NM_001083116.3(PRF1):c.512C>A (p.Thr171Asn) rs1455960914 0.00001
NM_001083116.3(PRF1):c.559C>T (p.Pro187Ser) rs780042742 0.00001
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp) rs202217604 0.00001
NM_001083614.2(EARS2):c.610G>A (p.Gly204Ser) rs397514592 0.00001
NM_001085049.3(MRAS):c.*6C>G rs969101151 0.00001
NM_001085049.3(MRAS):c.16G>A (p.Val6Ile) rs778102030 0.00001
NM_001085049.3(MRAS):c.348-17G>A rs574806189 0.00001
NM_001099274.3(TINF2):c.802G>C (p.Val268Leu) rs369926102 0.00001
NM_001099922.3(ALG13):c.1643T>C (p.Val548Ala) rs1238751751 0.00001
NM_001100913.3(PACS2):c.1781-7C>T rs1555412976 0.00001
NM_001100913.3(PACS2):c.2630A>G (p.Lys877Arg) rs782685668 0.00001
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg) rs782192817 0.00001
NM_001110556.2(FLNA):c.2521C>T (p.Arg841Trp) rs782772998 0.00001
NM_001110556.2(FLNA):c.4069C>T (p.Arg1357Trp) rs373073505 0.00001
NM_001110556.2(FLNA):c.6415C>T (p.Arg2139Trp) rs782761341 0.00001
NM_001110792.2(MECP2):c.1183C>T (p.Leu395Phe) rs1340029095 0.00001
NM_001111125.3(IQSEC2):c.2000A>G (p.Asn667Ser) rs782321409 0.00001
NM_001122630.2(CDKN1C):c.377C>T (p.Pro126Leu) rs1445830484 0.00001
NM_001122769.3(LCA5):c.1418A>C (p.Glu473Ala) rs550772415 0.00001
NM_001122769.3(LCA5):c.2T>C (p.Met1Thr) rs1331645027 0.00001
NM_001122955.4(BSCL2):c.485G>A (p.Arg162Gln) rs768780378 0.00001
NM_001126049.2(KLLN):c.-1018C>T rs1858332063 0.00001
NM_001126049.2(KLLN):c.-1027G>A rs1355012894 0.00001
NM_001126108.2(SLC12A3):c.1258G>A (p.Ala420Thr) rs137970015 0.00001
NM_001127222.2(CACNA1A):c.1189T>G (p.Ser397Ala) rs745753973 0.00001
NM_001127222.2(CACNA1A):c.1393T>G (p.Ser465Ala) rs1195950626 0.00001
NM_001127222.2(CACNA1A):c.1782G>A (p.Lys594=) rs756972061 0.00001
NM_001127222.2(CACNA1A):c.2818A>G (p.Arg940Gly) rs778220824 0.00001
NM_001127222.2(CACNA1A):c.979-7C>T rs1375150525 0.00001
NM_001127644.2(GABRA1):c.1297A>G (p.Ile433Val) rs1057518405 0.00001
NM_001128159.3(VPS53):c.1213G>C (p.Asp405His) rs1326877109 0.00001
NM_001128225.3(SLC39A13):c.616G>A (p.Gly206Ser) rs772303012 0.00001
NM_001128425.2(MUTYH):c.167G>A (p.Gly56Glu) rs587781374 0.00001
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val) rs587780747 0.00001
NM_001130438.3(SPTAN1):c.649C>G (p.Gln217Glu) rs756290749 0.00001
NM_001130987.2(DYSF):c.1150-21C>T rs532850915 0.00001
NM_001130987.2(DYSF):c.1499G>A (p.Arg500His) rs775370021 0.00001
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His) rs759675023 0.00001
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu) rs535323489 0.00001
NM_001130987.2(DYSF):c.722C>T (p.Ser241Phe) rs754343148 0.00001
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu) rs1258728780 0.00001
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) rs369835514 0.00001
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr) rs1033220280 0.00001
NM_001134407.3(GRIN2A):c.3722G>A (p.Arg1241Gln) rs886042648 0.00001
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val) rs750649530 0.00001
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg) rs1264460804 0.00001
NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp) rs764862348 0.00001
NM_001142800.2(EYS):c.1871C>T (p.Ser624Leu) rs548565748 0.00001
NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp) rs762212630 0.00001
NM_001142800.2(EYS):c.3443G>A (p.Arg1148Lys) rs1334016191 0.00001
NM_001142800.2(EYS):c.5959A>C (p.Thr1987Pro) rs1278246029 0.00001
NM_001142800.2(EYS):c.6047G>A (p.Gly2016Asp) rs886061672 0.00001
NM_001142800.2(EYS):c.7775G>A (p.Gly2592Glu) rs1471859071 0.00001
NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro) rs569561277 0.00001
NM_001142800.2(EYS):c.939T>G (p.Ser313Arg) rs774342993 0.00001
NM_001144967.3(NEDD4L):c.482A>G (p.Glu161Gly) rs746022345 0.00001
NM_001145809.2(MYH14):c.-3-6C>T rs886054586 0.00001
NM_001145809.2(MYH14):c.4987C>T (p.Arg1663Trp) rs375795690 0.00001
NM_001145809.2(MYH14):c.5042A>G (p.Glu1681Gly) rs1206556550 0.00001
NM_001145809.2(MYH14):c.5534G>A (p.Arg1845Gln) rs201040702 0.00001
NM_001148.6(ANK2):c.10562C>T (p.Pro3521Leu) rs766421377 0.00001
NM_001148.6(ANK2):c.10645C>T (p.Arg3549Cys) rs1056477885 0.00001
NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys) rs761254386 0.00001
NM_001148.6(ANK2):c.6601A>G (p.Ser2201Gly) rs201717651 0.00001
NM_001148.6(ANK2):c.7247G>A (p.Arg2416Gln) rs766001488 0.00001
NM_001148.6(ANK2):c.9145C>T (p.Arg3049Trp) rs1201870166 0.00001
NM_001159699.2(FHL1):c.204+6G>A rs763404867 0.00001
NM_001161352.2(KCNMA1):c.3147+10C>T rs777007748 0.00001
NM_001163435.3(TBCK):c.659-19T>C rs1212469599 0.00001
NM_001164277.2(SLC37A4):c.1124+2dup rs1459811938 0.00001
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg) rs1272300904 0.00001
NM_001164508.2(NEB):c.10418T>A (p.Met3473Lys) rs1199616055 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001164508.2(NEB):c.17179A>G (p.Arg5727Gly) rs1165026867 0.00001
NM_001164508.2(NEB):c.17634+5G>A rs749700121 0.00001
NM_001164508.2(NEB):c.20113G>A (p.Val6705Ile) rs774095156 0.00001
NM_001164508.2(NEB):c.24556C>T (p.Arg8186Cys) rs765313781 0.00001
NM_001164508.2(NEB):c.4299+9G>A rs746505680 0.00001
NM_001164508.2(NEB):c.6478A>T (p.Asn2160Tyr) rs2099084057 0.00001
NM_001164508.2(NEB):c.8381A>T (p.Tyr2794Phe) rs750548574 0.00001
NM_001164508.2(NEB):c.8791A>G (p.Lys2931Glu) rs1049915348 0.00001
NM_001165963.4(SCN1A):c.1171-19C>A rs929127955 0.00001
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr) rs758871507 0.00001
NM_001165963.4(SCN1A):c.3776T>C (p.Phe1259Ser) rs398123591 0.00001
NM_001170629.2(CHD8):c.7045G>C (p.Val2349Leu) rs754271832 0.00001
NM_001174089.2(SLC4A11):c.1861C>T (p.Arg621Cys) rs754299888 0.00001
NM_001174150.2(ARL13B):c.963G>C (p.Lys321Asn) rs2076893671 0.00001
NM_001184880.2(PCDH19):c.2509A>G (p.Asn837Asp) rs1284670769 0.00001
NM_001197104.2(KMT2A):c.11322-6C>A rs1950921220 0.00001
NM_001197104.2(KMT2A):c.82G>T (p.Gly28Trp) rs782113710 0.00001
NM_001199753.2(CPT1C):c.740C>T (p.Pro247Leu) rs765359581 0.00001
NM_001201543.2(FAM161A):c.2020G>T (p.Glu674Ter) rs998875938 0.00001
NM_001206744.2(TPO):c.2077C>T (p.Arg693Trp) rs121908087 0.00001
NM_001211.6(BUB1B):c.1919C>T (p.Pro640Leu) rs370388424 0.00001
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) rs28989185 0.00001
NM_001242896.3(DEPDC5):c.3623C>T (p.Ala1208Val) rs772280549 0.00001
NM_001243279.3(ACSF3):c.1061G>A (p.Arg354Gln) rs544775512 0.00001
NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln) rs387907119 0.00001
NM_001244008.2(KIF1A):c.1360G>A (p.Ala454Thr) rs1575598898 0.00001
NM_001244008.2(KIF1A):c.2479C>T (p.Arg827Cys) rs376012799 0.00001
NM_001244008.2(KIF1A):c.3829C>T (p.Arg1277Trp) rs374076405 0.00001
NM_001244008.2(KIF1A):c.5095G>A (p.Val1699Met) rs1559472826 0.00001
NM_001244189.2(KIAA0586):c.1A>G (p.Met1Val) rs1298293774 0.00001
NM_001244710.2(GFPT1):c.2055+1G>T rs868258818 0.00001
NM_001261826.3(AP3D1):c.2329G>A (p.Val777Ile) rs775564429 0.00001
NM_001261826.3(AP3D1):c.2711C>T (p.Pro904Leu) rs535799229 0.00001
NM_001267550.2(TTN):c.101728G>A (p.Glu33910Lys) rs943777958 0.00001
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys) rs886055224 0.00001
NM_001267550.2(TTN):c.102638A>G (p.Asn34213Ser) rs375332499 0.00001
NM_001267550.2(TTN):c.103780C>T (p.Arg34594Cys) rs879240376 0.00001
NM_001267550.2(TTN):c.105134A>T (p.Asp35045Val) rs1001393566 0.00001
NM_001267550.2(TTN):c.105449G>A (p.Cys35150Tyr) rs554953169 0.00001
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys) rs778126842 0.00001
NM_001267550.2(TTN):c.14095G>T (p.Ala4699Ser) rs1172448062 0.00001
NM_001267550.2(TTN):c.15495A>C (p.Lys5165Asn) rs794729608 0.00001
NM_001267550.2(TTN):c.16790C>T (p.Ser5597Phe) rs754116386 0.00001
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met) rs770310501 0.00001
NM_001267550.2(TTN):c.17326A>G (p.Ile5776Val) rs767553328 0.00001
NM_001267550.2(TTN):c.17461+14G>A rs751425418 0.00001
NM_001267550.2(TTN):c.17717G>T (p.Cys5906Phe) rs1239818599 0.00001
NM_001267550.2(TTN):c.19036G>A (p.Val6346Met) rs537966944 0.00001
NM_001267550.2(TTN):c.20317C>T (p.Leu6773Phe) rs189557659 0.00001
NM_001267550.2(TTN):c.20633A>C (p.Glu6878Ala) rs752107739 0.00001
NM_001267550.2(TTN):c.20836+9A>G rs982238257 0.00001
NM_001267550.2(TTN):c.21107A>T (p.Asp7036Val) rs767695386 0.00001
NM_001267550.2(TTN):c.21172G>C (p.Gly7058Arg) rs786205401 0.00001
NM_001267550.2(TTN):c.21524G>C (p.Arg7175Thr) rs1578045796 0.00001
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His) rs754432983 0.00001
NM_001267550.2(TTN):c.2260G>A (p.Ala754Thr) rs754073908 0.00001
NM_001267550.2(TTN):c.25832A>G (p.Asn8611Ser) rs779262321 0.00001
NM_001267550.2(TTN):c.27677G>A (p.Cys9226Tyr) rs369108107 0.00001
NM_001267550.2(TTN):c.29078C>T (p.Ala9693Val) rs767793508 0.00001
NM_001267550.2(TTN):c.29857G>T (p.Gly9953Cys) rs770212603 0.00001
NM_001267550.2(TTN):c.31426+1G>C rs6749719 0.00001
NM_001267550.2(TTN):c.3164+13G>C rs750352603 0.00001
NM_001267550.2(TTN):c.32011+15T>G rs886055285 0.00001
NM_001267550.2(TTN):c.32858C>T (p.Ala10953Val) rs773225325 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001267550.2(TTN):c.34650A>C (p.Glu11550Asp) rs747549288 0.00001
NM_001267550.2(TTN):c.34670C>T (p.Pro11557Leu) rs887706962 0.00001
NM_001267550.2(TTN):c.3785T>C (p.Ile1262Thr) rs752505720 0.00001
NM_001267550.2(TTN):c.39284C>A (p.Pro13095His) rs770419196 0.00001
NM_001267550.2(TTN):c.39715G>T (p.Glu13239Ter) rs879110681 0.00001
NM_001267550.2(TTN):c.40558+4T>C rs398124451 0.00001
NM_001267550.2(TTN):c.40595T>G (p.Val13532Gly) rs756446770 0.00001
NM_001267550.2(TTN):c.40669G>A (p.Val13557Ile) rs1170853214 0.00001
NM_001267550.2(TTN):c.4076A>G (p.Glu1359Gly) rs370978752 0.00001
NM_001267550.2(TTN):c.40877-7A>G rs727505201 0.00001
NM_001267550.2(TTN):c.4101C>A (p.Ser1367Arg) rs1307238681 0.00001
NM_001267550.2(TTN):c.42252A>G (p.Ile14084Met) rs1163597313 0.00001
NM_001267550.2(TTN):c.42401G>A (p.Arg14134Gln) rs764083952 0.00001
NM_001267550.2(TTN):c.43478A>G (p.Glu14493Gly) rs1316766072 0.00001
NM_001267550.2(TTN):c.44816C>G (p.Pro14939Arg) rs1186119697 0.00001
NM_001267550.2(TTN):c.45369C>G (p.Ile15123Met) rs1160173197 0.00001
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys) rs397517582 0.00001
NM_001267550.2(TTN):c.48446T>C (p.Met16149Thr) rs760582847 0.00001
NM_001267550.2(TTN):c.48498T>G (p.Asp16166Glu) rs1429263816 0.00001
NM_001267550.2(TTN):c.4874C>G (p.Ser1625Cys) rs185789611 0.00001
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val) rs370696020 0.00001
NM_001267550.2(TTN):c.52397A>G (p.Asp17466Gly) rs377156953 0.00001
NM_001267550.2(TTN):c.54380G>C (p.Gly18127Ala) rs371971395 0.00001
NM_001267550.2(TTN):c.54532C>T (p.Arg18178Cys) rs554701601 0.00001
NM_001267550.2(TTN):c.54646G>A (p.Val18216Ile) rs2054164910 0.00001
NM_001267550.2(TTN):c.55340C>T (p.Pro18447Leu) rs397517622 0.00001
NM_001267550.2(TTN):c.57018T>A (p.Asp19006Glu) rs780515211 0.00001
NM_001267550.2(TTN):c.58490T>C (p.Met19497Thr) rs375365886 0.00001
NM_001267550.2(TTN):c.60059G>A (p.Gly20020Asp) rs1430427636 0.00001
NM_001267550.2(TTN):c.60221-15A>G rs979267983 0.00001
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala) rs886039085 0.00001
NM_001267550.2(TTN):c.62124G>T (p.Arg20708Ser) rs377175428 0.00001
NM_001267550.2(TTN):c.63332C>T (p.Ser21111Phe) rs547033801 0.00001
NM_001267550.2(TTN):c.64001A>G (p.Asn21334Ser) rs753121509 0.00001
NM_001267550.2(TTN):c.64283T>C (p.Val21428Ala) rs1576014979 0.00001
NM_001267550.2(TTN):c.6462C>G (p.Ile2154Met) rs780879621 0.00001
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg) rs886038921 0.00001
NM_001267550.2(TTN):c.66332T>A (p.Ile22111Lys) rs374614550 0.00001
NM_001267550.2(TTN):c.66545A>G (p.Tyr22182Cys) rs879016147 0.00001
NM_001267550.2(TTN):c.67051G>T (p.Val22351Leu) rs764048936 0.00001
NM_001267550.2(TTN):c.6791-11A>G rs368202177 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.68825-7T>A rs767881914 0.00001
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser) rs758398301 0.00001
NM_001267550.2(TTN):c.70013G>A (p.Arg23338Gln) rs78916558 0.00001
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn) rs771783837 0.00001
NM_001267550.2(TTN):c.72317A>C (p.Asn24106Thr) rs1386956312 0.00001
NM_001267550.2(TTN):c.74047G>A (p.Glu24683Lys) rs755064877 0.00001
NM_001267550.2(TTN):c.76087C>T (p.Arg25363Cys) rs757511354 0.00001
NM_001267550.2(TTN):c.77049T>G (p.Ile25683Met) rs755225678 0.00001
NM_001267550.2(TTN):c.7783A>G (p.Met2595Val) rs760786665 0.00001
NM_001267550.2(TTN):c.79342G>A (p.Val26448Met) rs1380054566 0.00001
NM_001267550.2(TTN):c.79636A>G (p.Thr26546Ala) rs775053902 0.00001
NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser) rs566764105 0.00001
NM_001267550.2(TTN):c.80228A>C (p.Lys26743Thr) rs368263400 0.00001
NM_001267550.2(TTN):c.83404A>G (p.Ile27802Val) rs727504723 0.00001
NM_001267550.2(TTN):c.85756A>G (p.Ile28586Val) rs1187128207 0.00001
NM_001267550.2(TTN):c.85861T>C (p.Tyr28621His) rs751308383 0.00001
NM_001267550.2(TTN):c.86638T>G (p.Tyr28880Asp) rs1244106142 0.00001
NM_001267550.2(TTN):c.87077C>T (p.Pro29026Leu) rs876658090 0.00001
NM_001267550.2(TTN):c.88059C>A (p.Ser29353Arg) rs1311421658 0.00001
NM_001267550.2(TTN):c.89258T>A (p.Leu29753His) rs369279892 0.00001
NM_001267550.2(TTN):c.89425C>T (p.Arg29809Trp) rs112777680 0.00001
NM_001267550.2(TTN):c.89492A>C (p.Lys29831Thr) rs1404072291 0.00001
NM_001267550.2(TTN):c.92383G>A (p.Val30795Ile) rs369025866 0.00001
NM_001267550.2(TTN):c.94142T>C (p.Phe31381Ser) rs751185223 0.00001
NM_001267550.2(TTN):c.95021T>C (p.Val31674Ala) rs754222897 0.00001
NM_001267550.2(TTN):c.95431C>T (p.Pro31811Ser) rs373291051 0.00001
NM_001267550.2(TTN):c.95486C>G (p.Thr31829Arg) rs762048345 0.00001
NM_001267550.2(TTN):c.95494G>A (p.Glu31832Lys) rs753982218 0.00001
NM_001267550.2(TTN):c.95728C>T (p.Pro31910Ser) rs199618831 0.00001
NM_001267550.2(TTN):c.96985C>T (p.Pro32329Ser) rs759641873 0.00001
NM_001267550.2(TTN):c.97201G>C (p.Gly32401Arg) rs1371025709 0.00001
NM_001267550.2(TTN):c.9802C>T (p.Pro3268Ser) rs912372716 0.00001
NM_001267550.2(TTN):c.9989-16T>C rs564482474 0.00001
NM_001271938.2(MEGF8):c.584C>T (p.Pro195Leu) rs1305476517 0.00001
NM_001271938.2(MEGF8):c.901G>A (p.Gly301Ser) rs369528104 0.00001
NM_001276345.2(TNNT2):c.254T>G (p.Val85Gly) rs730881095 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001278293.3(ARL6):c.291T>A (p.Ser97Arg) rs2037381055 0.00001
NM_001278512.2(AP3B2):c.1256G>A (p.Arg419His) rs750705900 0.00001
NM_001282426.2(PIK3CG):c.1480C>T (p.Gln494Ter) rs1584318294 0.00001
NM_001283009.2(RTEL1):c.1877A>G (p.Lys626Arg) rs1018679403 0.00001
NM_001283009.2(RTEL1):c.637C>T (p.Arg213Trp) rs560281693 0.00001
NM_001286.5(CLCN6):c.1561T>G (p.Phe521Val) rs776387131 0.00001
NM_001289.6(CLIC2):c.454A>G (p.Thr152Ala) rs1557316156 0.00001
NM_001291303.3(FAT4):c.11482G>A (p.Val3828Ile) rs773534151 0.00001
NM_001291415.2(KDM6A):c.533A>G (p.Lys178Arg) rs758358984 0.00001
NM_001291867.2(NHS):c.691C>T (p.Arg231Trp) rs749420963 0.00001
NM_001297.5(CNGB1):c.2294G>A (p.Arg765His) rs761839551 0.00001
NM_001303052.2(MYT1L):c.1673G>A (p.Arg558His) rs746083137 0.00001
NM_001303256.3(MORC2):c.2650G>A (p.Ala884Thr) rs372297066 0.00001
NM_001304717.4(PTEN):c.-332G>A rs876661046 0.00001
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_001330.5(CTF1):c.34C>T (p.Gln12Ter) rs369917781 0.00001
NM_001330078.2(NRXN1):c.1361G>A (p.Arg454Gln) rs199592328 0.00001
NM_001330260.2(SCN8A):c.80G>A (p.Arg27Lys) rs1303731165 0.00001
NM_001330574.2(ZNF711):c.1387A>T (p.Thr463Ser) rs1414779618 0.00001
NM_001347721.2(DYRK1A):c.301-8C>T rs991072716 0.00001
NM_001348323.3(TRIP12):c.2362A>G (p.Lys788Glu) rs1373424845 0.00001
NM_001351132.2(PEX5):c.1669C>T (p.Arg557Trp) rs1281539463 0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) rs764841449 0.00001
NM_001353921.2(ARHGEF9):c.475A>G (p.Ile159Val) rs1556389367 0.00001
NM_001353921.2(ARHGEF9):c.667C>T (p.Arg223Cys) rs782139620 0.00001
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys) rs371302153 0.00001
NM_001360.3(DHCR7):c.1424T>C (p.Phe475Ser) rs1478872904 0.00001
NM_001360.3(DHCR7):c.232G>A (p.Gly78Arg) rs373352413 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.956C>T (p.Thr319Met) rs766583874 0.00001
NM_001363711.2(DUOX2):c.3116G>A (p.Arg1039Gln) rs772992566 0.00001
NM_001365088.1(SLC12A6):c.1118+4C>T rs773294017 0.00001
NM_001365536.1(SCN9A):c.5858C>T (p.Thr1953Ile) rs1222885641 0.00001
NM_001365536.1(SCN9A):c.5954A>G (p.Glu1985Gly) rs755850299 0.00001
NM_001365951.3(KIF1B):c.2572A>G (p.Arg858Gly) rs779626536 0.00001
NM_001365999.1(SZT2):c.2533C>G (p.Leu845Val) rs181729793 0.00001
NM_001367624.2(ZNF469):c.4271C>A (p.Ser1424Tyr) rs1022664528 0.00001
NM_001367624.2(ZNF469):c.5384C>A (p.Ala1795Asp) rs1013562167 0.00001
NM_001367624.2(ZNF469):c.6073G>C (p.Ala2025Pro) rs1318556892 0.00001
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626 0.00001
NM_001367721.1(CASK):c.524T>C (p.Val175Ala) rs781247892 0.00001
NM_001368397.1(FRMPD4):c.1954T>A (p.Ser652Thr) rs1277751974 0.00001
NM_001369268.1(ACAN):c.512C>T (p.Ala171Val) rs371065660 0.00001
NM_001369369.1(FOXN1):c.1106T>C (p.Ile369Thr) rs867638414 0.00001
NM_001370259.2(MEN1):c.1567G>A (p.Ala523Thr) rs760683615 0.00001
NM_001370259.2(MEN1):c.655-5C>G rs752563214 0.00001
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp) rs397514419 0.00001
NM_001370658.1(BTD):c.197T>G (p.Met66Arg) rs587783002 0.00001
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser) rs397514353 0.00001
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp) rs397514370 0.00001
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr) rs397514382 0.00001
NM_001371986.1(UNC80):c.2281G>A (p.Gly761Arg) rs930093689 0.00001
NM_001374623.1(PNPLA1):c.496C>T (p.Arg166Cys) rs372072356 0.00001
NM_001376.5(DYNC1H1):c.10241A>G (p.Asn3414Ser) rs1555411393 0.00001
NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp) rs745569868 0.00001
NM_001377299.1(NDUFS2):c.158A>G (p.Tyr53Cys) rs774162709 0.00001
NM_001378120.1(MBD5):c.1850A>G (p.His617Arg) rs1370214658 0.00001
NM_001378120.1(MBD5):c.205A>G (p.Ile69Val) rs749163361 0.00001
NM_001378454.1(ALMS1):c.10078+2dup rs755740074 0.00001
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg) rs1674949532 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.12256C>T (p.Arg4086Trp) rs779618627 0.00001
NM_001378454.1(ALMS1):c.12463-14C>G rs766656843 0.00001
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.1927G>A (p.Glu643Lys) rs769734500 0.00001
NM_001378454.1(ALMS1):c.2136C>T (p.Leu712=) rs747504060 0.00001
NM_001378454.1(ALMS1):c.2413A>G (p.Thr805Ala) rs772260271 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.3268C>G (p.Pro1090Ala) rs376232524 0.00001
NM_001378454.1(ALMS1):c.3407C>T (p.Thr1136Ile) rs756805885 0.00001
NM_001378454.1(ALMS1):c.4181A>G (p.Gln1394Arg) rs368955191 0.00001
NM_001378454.1(ALMS1):c.4454T>C (p.Ile1485Thr) rs564400636 0.00001
NM_001378454.1(ALMS1):c.4765C>A (p.His1589Asn) rs771703863 0.00001
NM_001378454.1(ALMS1):c.4789G>A (p.Val1597Ile) rs759914299 0.00001
NM_001378454.1(ALMS1):c.5575A>G (p.Ile1859Val) rs1558650343 0.00001
NM_001378454.1(ALMS1):c.7067C>T (p.Ser2356Leu) rs757852651 0.00001
NM_001378454.1(ALMS1):c.901A>C (p.Ile301Leu) rs534913971 0.00001
NM_001378454.1(ALMS1):c.9392C>T (p.Ser3131Phe) rs144588413 0.00001
NM_001378454.1(ALMS1):c.9545C>T (p.Pro3182Leu) rs1475730829 0.00001
NM_001378454.1(ALMS1):c.9553A>T (p.Met3185Leu) rs1421714540 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378615.1(CC2D2A):c.3452T>C (p.Val1151Ala) rs863225170 0.00001
NM_001378615.1(CC2D2A):c.3851G>A (p.Arg1284His) rs754586025 0.00001
NM_001378615.1(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732 0.00001
NM_001378615.1(CC2D2A):c.4550C>G (p.Thr1517Ser) rs780673487 0.00001
NM_001378778.1(MPDZ):c.4145C>T (p.Pro1382Leu) rs145892665 0.00001
NM_001379270.1(CNGA1):c.818G>A (p.Arg273Gln) rs371238926 0.00001
NM_001379286.1(ZNF423):c.2621C>T (p.Pro874Leu) rs959264947 0.00001
NM_001379451.1(BCORL1):c.3768G>C (p.Glu1256Asp) rs1447366476 0.00001
NM_001379610.1(SPINK1):c.194+6T>C rs761201715 0.00001
NM_001379610.1(SPINK1):c.199C>T (p.Arg67Cys) rs515726208 0.00001
NM_001379610.1(SPINK1):c.38C>T (p.Ala13Val) rs770387107 0.00001
NM_001379610.1(SPINK1):c.82A>G (p.Arg28Gly) rs375368064 0.00001
NM_001384140.1(PCDH15):c.3374-7C>T rs377480411 0.00001
NM_001384474.1(LOXHD1):c.3808T>C (p.Cys1270Arg) rs140776419 0.00001
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) rs1442825433 0.00001
NM_001384732.1(CPLANE1):c.7588+7A>G rs773662834 0.00001
NM_001384732.1(CPLANE1):c.9310+6A>T rs1347208910 0.00001
NM_001385012.1(NBEA):c.5366+4G>A rs745512250 0.00001
NM_001386140.1(MTTP):c.1691T>C (p.Ile564Thr) rs745447480 0.00001
NM_001386140.1(MTTP):c.74G>A (p.Gly25Asp) rs762413666 0.00001
NM_001386298.1(CIC):c.6340C>T (p.Arg2114Trp) rs540906276 0.00001
NM_001386393.1(PANK2):c.370A>G (p.Thr124Ala) rs137852965 0.00001
NM_001386795.1(DTNA):c.1753G>A (p.Ala585Thr) rs767501382 0.00001
NM_001386795.1(DTNA):c.68-5A>G rs1243110074 0.00001
NM_001394372.1(BICRA):c.515C>T (p.Pro172Leu) rs1599846930 0.00001
NM_001458.5(FLNC):c.5251C>T (p.Arg1751Cys) rs1585165163 0.00001
NM_001482.3(GATM):c.616C>T (p.Arg206Cys) rs769023072 0.00001
NM_001493.3(GDI1):c.720-16G>A rs1047041485 0.00001
NM_001605.3(AARS1):c.1537A>C (p.Lys513Gln) rs1960156160 0.00001
NM_001605.3(AARS1):c.1726A>C (p.Ile576Leu) rs755027471 0.00001
NM_001605.3(AARS1):c.1805T>C (p.Met602Thr) rs1319699374 0.00001
NM_001613.4(ACTA2):c.107T>C (p.Ile36Thr) rs772919504 0.00001
NM_001673.5(ASNS):c.437T>C (p.Phe146Ser) rs1476175517 0.00001
NM_001673.5(ASNS):c.758T>G (p.Ile253Ser) rs761044095 0.00001
NM_001768.7(CD8A):c.52G>T (p.Ala18Ser) rs1401592907 0.00001
NM_001830.4(CLCN4):c.2084G>A (p.Arg695His) rs760081067 0.00001
NM_001830.4(CLCN4):c.448A>C (p.Ile150Leu) rs1281964124 0.00001
NM_001845.6(COL4A1):c.1990+7T>C rs773725275 0.00001
NM_001848.3(COL6A1):c.2188G>A (p.Gly730Arg) rs1297620940 0.00001
NM_001848.3(COL6A1):c.3012C>G (p.Phe1004Leu) rs1171160953 0.00001
NM_001849.4(COL6A2):c.2434G>A (p.Val812Met) rs746393019 0.00001
NM_001852.4(COL9A2):c.1972G>A (p.Val658Met) rs773159349 0.00001
NM_001853.4(COL9A3):c.1054-12C>T rs1462378174 0.00001
NM_001853.4(COL9A3):c.1750G>A (p.Gly584Ser) rs780489761 0.00001
NM_001854.4(COL11A1):c.4609-8C>A rs777390779 0.00001
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631 0.00001
NM_001909.5(CTSD):c.751G>A (p.Asp251Asn) rs763407972 0.00001
NM_001918.5(DBT):c.1217G>T (p.Gly406Val) rs767154711 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_001927.4(DES):c.-9G>A rs1359188472 0.00001
NM_001931.5(DLAT):c.1345T>C (p.Ser449Pro) rs1555181432 0.00001
NM_001943.5(DSG2):c.1466T>C (p.Val489Ala) rs748619993 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001953.5(TYMP):c.854T>C (p.Leu285Pro) rs121913042 0.00001
NM_001963.6(EGF):c.2687T>C (p.Val896Ala) rs778040733 0.00001
NM_001985.3(ETFB):c.645dup (p.Val216fs) rs1428088327 0.00001
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His) rs1262933234 0.00001
NM_002025.4(AFF2):c.1702G>A (p.Val568Ile) rs1369501597 0.00001
NM_002047.4(GARS1):c.101G>A (p.Arg34Gln) rs1189675611 0.00001
NM_002087.4(GRN):c.473G>A (p.Cys158Tyr) rs63750163 0.00001
NM_002087.4(GRN):c.620T>C (p.Met207Thr) rs776198499 0.00001
NM_002109.6(HARS1):c.1311+4T>C rs958234389 0.00001
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp) rs757279674 0.00001
NM_002109.6(HARS1):c.506G>A (p.Arg169Gln) rs146922029 0.00001
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys) rs137852865 0.00001
NM_002160.4(TNC):c.5743A>G (p.Thr1915Ala) rs1180536647 0.00001
NM_002225.5(IVD):c.1132T>C (p.Cys378Arg) rs398123680 0.00001
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr) rs763422682 0.00001
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.1774-8C>T rs781837434 0.00001
NM_002230.4(JUP):c.209-8G>A rs1165044090 0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu) rs782509792 0.00001
NM_002234.4(KCNA5):c.1574G>A (p.Arg525Gln) rs1274977803 0.00001
NM_002299.4(LCT):c.677T>C (p.Ile226Thr) rs747805112 0.00001
NM_002335.4(LRP5):c.98C>T (p.Pro33Leu) rs753259758 0.00001
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu) rs778641299 0.00001
NM_002471.4(MYH6):c.1903A>G (p.Lys635Glu) rs1566512077 0.00001
NM_002471.4(MYH6):c.2169-8C>T rs1006825673 0.00001
NM_002471.4(MYH6):c.2292+1G>A rs771569935 0.00001
NM_002471.4(MYH6):c.3733-19C>T rs753409868 0.00001
NM_002471.4(MYH6):c.3859+7G>A rs748958937 0.00001
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His) rs142556730 0.00001
NM_002471.4(MYH6):c.4798C>A (p.Gln1600Lys) rs770068575 0.00001
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys) rs760353963 0.00001
NM_002471.4(MYH6):c.5767C>T (p.Arg1923Ter) rs765861895 0.00001
NM_002471.4(MYH6):c.643-3T>C rs113552091 0.00001
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro) rs1320990570 0.00001
NM_002473.6(MYH9):c.1409A>G (p.Asn470Ser) rs751720764 0.00001
NM_002473.6(MYH9):c.2405G>A (p.Arg802Gln) rs765414397 0.00001
NM_002473.6(MYH9):c.5766-5C>T rs746967490 0.00001
NM_002474.3(MYH11):c.1576-4A>G rs189193825 0.00001
NM_002474.3(MYH11):c.1864+8C>T rs1297078684 0.00001
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp) rs886038932 0.00001
NM_002474.3(MYH11):c.2426G>A (p.Arg809Lys) rs534802983 0.00001
NM_002474.3(MYH11):c.2446A>C (p.Met816Leu) rs1243566183 0.00001
NM_002474.3(MYH11):c.2476T>C (p.Tyr826His) rs1436181127 0.00001
NM_002474.3(MYH11):c.3124C>T (p.Arg1042Trp) rs774490005 0.00001
NM_002474.3(MYH11):c.3152A>G (p.Gln1051Arg) rs1555557294 0.00001
NM_002474.3(MYH11):c.3233T>C (p.Ile1078Thr) rs193922629 0.00001
NM_002474.3(MYH11):c.4200G>T (p.Glu1400Asp) rs754997732 0.00001
NM_002474.3(MYH11):c.4543G>A (p.Asp1515Asn) rs200909802 0.00001
NM_002474.3(MYH11):c.5089G>A (p.Ala1697Thr) rs538145374 0.00001
NM_002474.3(MYH11):c.5095G>A (p.Ala1699Thr) rs200410021 0.00001
NM_002474.3(MYH11):c.5299G>A (p.Glu1767Lys) rs377663370 0.00001
NM_002474.3(MYH11):c.5302C>G (p.Gln1768Glu) rs901502893 0.00001
NM_002474.3(MYH11):c.5485C>G (p.Gln1829Glu) rs1005977032 0.00001
NM_002474.3(MYH11):c.62T>C (p.Ile21Thr) rs777372840 0.00001
NM_002485.5(NBN):c.-7C>A rs1210776869 0.00001
NM_002485.5(NBN):c.1023C>G (p.Ser341Arg) rs756023239 0.00001
NM_002485.5(NBN):c.1066G>A (p.Ala356Thr) rs777259845 0.00001
NM_002485.5(NBN):c.1177T>C (p.Phe393Leu) rs941732827 0.00001
NM_002485.5(NBN):c.1193A>G (p.Gln398Arg) rs746965070 0.00001
NM_002485.5(NBN):c.1247T>C (p.Met416Thr) rs863224713 0.00001
NM_002485.5(NBN):c.1361C>A (p.Ser454Tyr) rs587780774 0.00001
NM_002485.5(NBN):c.1628A>G (p.Glu543Gly) rs587781624 0.00001
NM_002485.5(NBN):c.1659G>A (p.Met553Ile) rs876659960 0.00001
NM_002485.5(NBN):c.1754A>G (p.Glu585Gly) rs763926389 0.00001
NM_002485.5(NBN):c.1763A>G (p.Asn588Ser) rs876658681 0.00001
NM_002485.5(NBN):c.1843T>C (p.Ser615Pro) rs746632073 0.00001
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro) rs199657566 0.00001
NM_002485.5(NBN):c.2073C>T (p.Val691=) rs876658178 0.00001
NM_002485.5(NBN):c.2132A>T (p.His711Leu) rs1810035825 0.00001
NM_002485.5(NBN):c.2134C>T (p.His712Tyr) rs781520763 0.00001
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser) rs587780093 0.00001
NM_002485.5(NBN):c.321-3C>T rs751356470 0.00001
NM_002485.5(NBN):c.37+7G>A rs372850559 0.00001
NM_002485.5(NBN):c.448C>T (p.Leu150Phe) rs773119929 0.00001
NM_002485.5(NBN):c.468A>C (p.Lys156Asn) rs730881858 0.00001
NM_002485.5(NBN):c.584+9T>C rs746913991 0.00001
NM_002485.5(NBN):c.596C>G (p.Pro199Arg) rs730881844 0.00001
NM_002485.5(NBN):c.644G>A (p.Arg215Gln) rs61753718 0.00001
NM_002485.5(NBN):c.772G>C (p.Glu258Gln) rs922057169 0.00001
NM_002485.5(NBN):c.938C>T (p.Ala313Val) rs730881862 0.00001
NM_002524.5(NRAS):c.290+15A>G rs373417606 0.00001
NM_002529.4(NTRK1):c.647A>G (p.Gln216Arg) rs1471711796 0.00001
NM_002547.3(OPHN1):c.1270T>G (p.Phe424Val) rs942810312 0.00001
NM_002615.7(SERPINF1):c.316C>T (p.Arg106Trp) rs781059865 0.00001
NM_002691.4(POLD1):c.1291A>G (p.Ile431Val) rs752444746 0.00001
NM_002691.4(POLD1):c.202+3A>G rs375365167 0.00001
NM_002691.4(POLD1):c.394G>A (p.Asp132Asn) rs781132734 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.1736G>A (p.Arg579Gln) rs746406535 0.00001
NM_002693.3(POLG):c.1790G>A (p.Arg597Gln) rs1001570418 0.00001
NM_002693.3(POLG):c.2221G>A (p.Asp741Asn) rs751736420 0.00001
NM_002693.3(POLG):c.2620T>A (p.Leu874Met) rs758402960 0.00001
NM_002693.3(POLG):c.3204C>G (p.Asp1068Glu) rs1057523186 0.00001
NM_002693.3(POLG):c.3346A>G (p.Met1116Val) rs201144044 0.00001
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn) rs149921636 0.00001
NM_002734.5(PRKAR1A):c.25A>C (p.Ser9Arg) rs778468626 0.00001
NM_002734.5(PRKAR1A):c.27T>G (p.Ser9Arg) rs745391692 0.00001
NM_002734.5(PRKAR1A):c.51A>T (p.Glu17Asp) rs771518581 0.00001
NM_002734.5(PRKAR1A):c.545C>T (p.Thr182Met) rs199801675 0.00001
NM_002734.5(PRKAR1A):c.790C>T (p.Arg264Cys) rs2085877268 0.00001
NM_002734.5(PRKAR1A):c.891+6G>T rs1222751049 0.00001
NM_002734.5(PRKAR1A):c.974-6C>A rs745570426 0.00001
NM_002755.4(MAP2K1):c.439-14A>G rs754725417 0.00001
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884 0.00001
NM_002755.4(MAP2K1):c.896-7T>C rs772786705 0.00001
NM_002755.4(MAP2K1):c.939G>C (p.Leu313Phe) rs1361965478 0.00001
NM_002769.5(PRSS1):c.-2C>A rs766465080 0.00001
NM_002769.5(PRSS1):c.163G>C (p.Glu55Gln) rs1365488828 0.00001
NM_002769.5(PRSS1):c.454+7G>A rs755175379 0.00001
NM_002769.5(PRSS1):c.497T>C (p.Leu166Pro) rs776120935 0.00001
NM_002769.5(PRSS1):c.589C>T (p.Gln197Ter) rs757054367 0.00001
NM_002778.4(PSAP):c.1350+4C>T rs769353440 0.00001
NM_002834.5(PTPN11):c.15-19C>A rs779587904 0.00001
NM_002834.5(PTPN11):c.1600-11C>G rs1472156150 0.00001
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met) rs150730493 0.00001
NM_002834.5(PTPN11):c.642+19T>C rs772465708 0.00001
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059 0.00001
NM_002838.5(PTPRC):c.3G>T (p.Met1Ile) rs759182888 0.00001
NM_002878.4(RAD51D):c.263+1503C>T rs753486358 0.00001
NM_002878.4(RAD51D):c.292T>A (p.Tyr98Asn) rs730881946 0.00001
NM_002878.4(RAD51D):c.296C>T (p.Thr99Ile) rs1339099286 0.00001
NM_002878.4(RAD51D):c.346G>A (p.Val116Ile) rs753009349 0.00001
NM_002878.4(RAD51D):c.34C>G (p.Leu12Val) rs773065220 0.00001
NM_002878.4(RAD51D):c.356G>A (p.Cys119Tyr) rs759730492 0.00001
NM_002878.4(RAD51D):c.419G>A (p.Gly140Glu) rs730881945 0.00001
NM_002878.4(RAD51D):c.481-5T>G rs374382703 0.00001
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys) rs139642328 0.00001
NM_002878.4(RAD51D):c.865G>A (p.Gly289Ser) rs587782129 0.00001
NM_002878.4(RAD51D):c.871C>T (p.Arg291Cys) rs372038369 0.00001
NM_002878.4(RAD51D):c.910G>T (p.Gly304Cys) rs759392029 0.00001
NM_002878.4(RAD51D):c.955C>T (p.Gln319Ter) rs794726988 0.00001
NM_002880.4(RAF1):c.-4A>C rs368465923 0.00001
NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser) rs774198365 0.00001
NM_002880.4(RAF1):c.1741A>G (p.Met581Val) rs752063874 0.00001
NM_002880.4(RAF1):c.1895_1918del (p.Glu632_Thr640delinsAla) rs2058255431 0.00001
NM_002880.4(RAF1):c.1910G>A (p.Cys637Tyr) rs769639669 0.00001
NM_002880.4(RAF1):c.1928C>T (p.Pro643Leu) rs1382398408 0.00001
NM_002880.4(RAF1):c.424-6T>C rs983999914 0.00001
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln) rs752713997 0.00001
NM_002972.4(SBF1):c.2828C>T (p.Thr943Met) rs987368963 0.00001
NM_003000.3(SDHB):c.482A>G (p.Asp161Gly) rs1049317868 0.00001
NM_003000.3(SDHB):c.49A>G (p.Thr17Ala) rs1060503756 0.00001
NM_003000.3(SDHB):c.679A>G (p.Thr227Ala) rs1191046308 0.00001
NM_003036.4(SKI):c.1767+7G>A rs199962561 0.00001
NM_003036.4(SKI):c.2140C>T (p.Arg714Cys) rs1361712039 0.00001
NM_003060.4(SLC22A5):c.1139C>T (p.Ala380Val) rs746187344 0.00001
NM_003060.4(SLC22A5):c.371A>G (p.Tyr124Cys) rs762126547 0.00001
NM_003060.4(SLC22A5):c.694A>G (p.Thr232Ala) rs188698686 0.00001
NM_003060.4(SLC22A5):c.932C>G (p.Thr311Ser) rs770408585 0.00001
NM_003060.4(SLC22A5):c.949G>A (p.Glu317Lys) rs774792831 0.00001
NM_003070.5(SMARCA2):c.4231C>T (p.Gln1411Ter) rs752254761 0.00001
NM_003073.5(SMARCB1):c.888G>T (p.Lys296Asn) rs769322487 0.00001
NM_003098.3(SNTA1):c.1339C>T (p.Arg447Ter) rs1187536758 0.00001
NM_003098.3(SNTA1):c.1425+1G>A rs113809208 0.00001
NM_003098.3(SNTA1):c.1425C>T (p.Ile475=) rs775932782 0.00001
NM_003098.3(SNTA1):c.467A>G (p.Lys156Arg) rs772004957 0.00001
NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu) rs759487225 0.00001
NM_003119.4(SPG7):c.1235C>T (p.Ala412Val) rs746668495 0.00001
NM_003119.4(SPG7):c.1409G>A (p.Arg470Gln) rs756535079 0.00001
NM_003221.4(TFAP2B):c.861G>C (p.Arg287Ser) rs777687254 0.00001
NM_003239.5(TGFB3):c.11A>G (p.His4Arg) rs371772819 0.00001
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518 0.00001
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu) rs755070814 0.00001
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg) rs759362407 0.00001
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) rs397516848 0.00001
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp) rs373519519 0.00001
NM_003383.5(VLDLR):c.1115A>G (p.Lys372Arg) rs759045327 0.00001
NM_003392.7(WNT5A):c.289G>A (p.Ala97Thr) rs763870268 0.00001
NM_003392.7(WNT5A):c.530G>C (p.Trp177Ser) rs1231823028 0.00001
NM_003476.5(CSRP3):c.255C>T (p.Gly85=) rs752338221 0.00001
NM_003477.3(PDHX):c.44G>A (p.Arg15His) rs387906998 0.00001
NM_003482.4(KMT2D):c.12605A>C (p.Gln4202Pro) rs1276517318 0.00001
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro) rs1403125636 0.00001
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln) rs587784332 0.00001
NM_003560.4(PLA2G6):c.1898C>T (p.Ala633Val) rs201657455 0.00001
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) rs754204295 0.00001
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864 0.00001
NM_003640.5(ELP1):c.3784A>G (p.Thr1262Ala) rs200634033 0.00001
NM_003719.5(PDE8B):c.125G>C (p.Gly42Ala) rs886060754 0.00001
NM_003745.2(SOCS1):c.424G>C (p.Glu142Gln) rs765480579 0.00001
NM_003793.4(CTSF):c.1358G>A (p.Trp453Ter) rs1188816866 0.00001
NM_003793.4(CTSF):c.1370G>A (p.Trp457Ter) rs888414145 0.00001
NM_003793.4(CTSF):c.752C>T (p.Thr251Ile) rs775268694 0.00001
NM_003801.4(GPAA1):c.1164+1A>G rs782802396 0.00001
NM_003850.3(SUCLA2):c.1147C>T (p.Arg383Cys) rs781744671 0.00001
NM_003865.3(HESX1):c.244G>C (p.Glu82Gln) rs980166573 0.00001
NM_004004.6(GJB2):c.-22-7T>C rs372197957 0.00001
NM_004004.6(GJB2):c.126G>T (p.Glu42Asp) rs535635403 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.331A>G (p.Ile111Val) rs1003660637 0.00001
NM_004004.6(GJB2):c.584T>C (p.Met195Thr) rs1378679640 0.00001
NM_004006.3(DMD):c.1000T>A (p.Leu334Met) rs1280415176 0.00001
NM_004006.3(DMD):c.10262C>T (p.Ala3421Val) rs104894791 0.00001
NM_004006.3(DMD):c.2905G>A (p.Val969Ile) rs750582245 0.00001
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu) rs745640786 0.00001
NM_004006.3(DMD):c.5739+8T>C rs1321625981 0.00001
NM_004006.3(DMD):c.5986G>A (p.Val1996Met) rs2097556758 0.00001
NM_004006.3(DMD):c.6151C>T (p.Arg2051Trp) rs140791274 0.00001
NM_004006.3(DMD):c.6152G>A (p.Arg2051Gln) rs756696562 0.00001
NM_004006.3(DMD):c.7873-6C>A rs764629897 0.00001
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu) rs151087470 0.00001
NM_004035.7(ACOX1):c.551C>T (p.Ser184Leu) rs780887410 0.00001
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser) rs1002618350 0.00001
NM_004082.5(DCTN1):c.1217G>A (p.Arg406Lys) rs1040712616 0.00001
NM_004082.5(DCTN1):c.1784G>A (p.Ser595Asn) rs1243051229 0.00001
NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu) rs1168354526 0.00001
NM_004100.5(EYA4):c.438-15T>C rs752763979 0.00001
NM_004168.4(SDHA):c.629G>A (p.Arg210Gln) rs762108779 0.00001
NM_004171.4(SLC1A2):c.1422-6C>G rs1453510369 0.00001
NM_004208.4(AIFM1):c.1631C>T (p.Pro544Leu) rs1569415383 0.00001
NM_004281.4(BAG3):c.1202C>G (p.Ala401Gly) rs775153939 0.00001
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln) rs876657746 0.00001
NM_004304.5(ALK):c.3358C>T (p.Arg1120Trp) rs774951734 0.00001
NM_004304.5(ALK):c.3421G>A (p.Asp1141Asn) rs748493584 0.00001
NM_004320.6(ATP2A1):c.1442A>T (p.Lys481Met) rs1288758939 0.00001
NM_004320.6(ATP2A1):c.2932A>G (p.Ile978Val) rs768415562 0.00001
NM_004329.3(BMPR1A):c.-6T>C rs1047677696 0.00001
NM_004329.3(BMPR1A):c.1059A>G (p.Gln353=) rs1060503407 0.00001
NM_004329.3(BMPR1A):c.1153G>A (p.Val385Ile) rs1060503396 0.00001
NM_004329.3(BMPR1A):c.1444A>G (p.Ile482Val) rs974639091 0.00001
NM_004329.3(BMPR1A):c.562C>T (p.Arg188Cys) rs879254272 0.00001
NM_004329.3(BMPR1A):c.572G>A (p.Arg191His) rs746231785 0.00001
NM_004329.3(BMPR1A):c.688A>G (p.Ile230Val) rs730881433 0.00001
NM_004329.3(BMPR1A):c.869-4A>C rs964020576 0.00001
NM_004329.3(BMPR1A):c.97A>G (p.Thr33Ala) rs748515167 0.00001
NM_004333.6(BRAF):c.1166G>A (p.Arg389His) rs577372072 0.00001
NM_004333.6(BRAF):c.1178-10A>G rs527835644 0.00001
NM_004333.6(BRAF):c.1369A>T (p.Ile457Phe) rs1008100536 0.00001
NM_004333.6(BRAF):c.1673G>A (p.Arg558Gln) rs1278812236 0.00001
NM_004333.6(BRAF):c.1690A>G (p.Met564Val) rs745783052 0.00001
NM_004333.6(BRAF):c.2029G>A (p.Asp677Asn) rs886041260 0.00001
NM_004333.6(BRAF):c.612G>C (p.Glu204Asp) rs1202874043 0.00001
NM_004333.6(BRAF):c.82G>A (p.Gly28Ser) rs1437317949 0.00001
NM_004341.5(CAD):c.1579G>A (p.Glu527Lys) rs141698954 0.00001
NM_004341.5(CAD):c.2171G>A (p.Gly724Glu) rs777961046 0.00001
NM_004341.5(CAD):c.2335G>T (p.Ala779Ser) rs369354492 0.00001
NM_004341.5(CAD):c.6071G>A (p.Arg2024Gln) rs763410987 0.00001
NM_004341.5(CAD):c.6671G>A (p.Arg2224His) rs138694992 0.00001
NM_004360.5(CDH1):c.-8G>A rs879449703 0.00001
NM_004360.5(CDH1):c.1070C>A (p.Thr357Lys) rs1260033180 0.00001
NM_004360.5(CDH1):c.1149G>C (p.Gln383His) rs786202510 0.00001
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203 0.00001
NM_004360.5(CDH1):c.1214A>G (p.Asn405Ser) rs587778175 0.00001
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser) rs773441320 0.00001
NM_004360.5(CDH1):c.1348T>A (p.Tyr450Asn) rs750741214 0.00001
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu) rs377416092 0.00001
NM_004360.5(CDH1):c.1478T>C (p.Val493Ala) rs786202407 0.00001
NM_004360.5(CDH1):c.1566-7C>T rs747783435 0.00001
NM_004360.5(CDH1):c.1843A>G (p.Ile615Val) rs1003012321 0.00001
NM_004360.5(CDH1):c.185G>T (p.Gly62Val) rs786203727 0.00001
NM_004360.5(CDH1):c.203A>G (p.Tyr68Cys) rs1284989530 0.00001
NM_004360.5(CDH1):c.2053G>A (p.Val685Met) rs550612843 0.00001
NM_004360.5(CDH1):c.2164+3A>G rs750651204 0.00001
NM_004360.5(CDH1):c.2201G>C (p.Arg734Thr) rs587781859 0.00001
NM_004360.5(CDH1):c.2264A>G (p.Tyr755Cys) rs187289510 0.00001
NM_004360.5(CDH1):c.2335C>T (p.Arg779Trp) rs876660183 0.00001
NM_004360.5(CDH1):c.2369C>T (p.Thr790Ile) rs587780120 0.00001
NM_004360.5(CDH1):c.254T>C (p.Val85Ala) rs878854688 0.00001
NM_004360.5(CDH1):c.2603G>A (p.Arg868His) rs369126891 0.00001
NM_004360.5(CDH1):c.49-8C>A rs774761552 0.00001
NM_004360.5(CDH1):c.595A>T (p.Thr199Ser) rs876658424 0.00001
NM_004360.5(CDH1):c.665G>A (p.Arg222Lys) rs1555515287 0.00001
NM_004369.4(COL6A3):c.7031G>A (p.Gly2344Glu) rs367725413 0.00001
NM_004393.6(DAG1):c.229T>C (p.Ser77Pro) rs2050743041 0.00001
NM_004407.4(DMP1):c.709A>G (p.Met237Val) rs201413886 0.00001
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg) rs1333859821 0.00001
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe) rs774852168 0.00001
NM_004415.4(DSP):c.117G>T (p.Arg39Ser) rs748578019 0.00001
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.1575-16C>G rs756806835 0.00001
NM_004415.4(DSP):c.170+16G>A rs1475829163 0.00001
NM_004415.4(DSP):c.2372T>C (p.Leu791Pro) rs1406788095 0.00001
NM_004415.4(DSP):c.2515C>T (p.His839Tyr) rs1561693806 0.00001
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser) rs1218975129 0.00001
NM_004415.4(DSP):c.308G>A (p.Arg103Gln) rs775015862 0.00001
NM_004415.4(DSP):c.314G>A (p.Arg105Gln) rs762238621 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 0.00001
NM_004415.4(DSP):c.3905G>A (p.Arg1302His) rs760691999 0.00001
NM_004415.4(DSP):c.4112A>G (p.Asn1371Ser) rs369649373 0.00001
NM_004415.4(DSP):c.4118C>T (p.Thr1373Ile) rs762930286 0.00001
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro) rs751972271 0.00001
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln) rs397516942 0.00001
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg) rs377344768 0.00001
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg) rs987386495 0.00001
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu) rs794728104 0.00001
NM_004415.4(DSP):c.5833C>T (p.Arg1945Cys) rs1456378645 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 0.00001
NM_004415.4(DSP):c.598-5C>T rs765653540 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys) rs746932951 0.00001
NM_004415.4(DSP):c.946A>G (p.Met316Val) rs201672777 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.1333T>C (p.Trp445Arg) rs1156517377 0.00001
NM_004453.4(ETFDH):c.296G>A (p.Arg99His) rs376630579 0.00001
NM_004463.3(FGD1):c.68C>G (p.Pro23Arg) rs1358236718 0.00001
NM_004493.3(HSD17B10):c.364C>G (p.Leu122Val) rs28935476 0.00001
NM_004519.4(KCNQ3):c.1800-12G>A rs761923188 0.00001
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) rs118192248 0.00001
NM_004519.4(KCNQ3):c.98C>T (p.Ala33Val) rs761196042 0.00001
NM_004525.3(LRP2):c.10697C>G (p.Thr3566Ser) rs756870198 0.00001
NM_004525.3(LRP2):c.1742T>C (p.Ile581Thr) rs779652105 0.00001
NM_004525.3(LRP2):c.5626A>G (p.Ile1876Val) rs763254934 0.00001
NM_004525.3(LRP2):c.8372G>A (p.Arg2791Lys) rs139266058 0.00001
NM_004562.3(PRKN):c.205A>G (p.Ile69Val) rs766391627 0.00001
NM_004612.4(TGFBR1):c.1435G>A (p.Gly479Arg) rs377194685 0.00001
NM_004614.5(TK2):c.156+6T>G rs758270948 0.00001
NM_004614.5(TK2):c.588A>T (p.Arg196Ser) rs752949191 0.00001
NM_004628.5(XPC):c.2011C>T (p.Arg671Cys) rs771891932 0.00001
NM_004628.5(XPC):c.2765A>C (p.Lys922Thr) rs767346855 0.00001
NM_004646.4(NPHS1):c.1234G>A (p.Gly412Ser) rs142008044 0.00001
NM_004646.4(NPHS1):c.218C>T (p.Pro73Leu) rs752777463 0.00001
NM_004646.4(NPHS1):c.895C>T (p.Arg299Cys) rs753476209 0.00001
NM_004655.4(AXIN2):c.1969G>A (p.Ala657Thr) rs1254934681 0.00001
NM_004655.4(AXIN2):c.2141+5G>A rs769868369 0.00001
NM_004655.4(AXIN2):c.2405+7G>A rs373593841 0.00001
NM_004700.4(KCNQ4):c.1463G>A (p.Arg488His) rs371301199 0.00001
NM_004750.5(CRLF1):c.646C>T (p.Arg216Cys) rs556029569 0.00001
NM_004870.4(MPDU1):c.511del (p.Leu171fs) rs756471132 0.00001
NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser) rs749301835 0.00001
NM_004984.4(KIF5A):c.1082C>T (p.Ala361Val) rs121434444 0.00001
NM_004985.5(KRAS):c.112-12C>T rs202104024 0.00001
NM_004985.5(KRAS):c.149C>T (p.Thr50Ile) rs1407509439 0.00001
NM_004985.5(KRAS):c.451-5538A>G rs755967833 0.00001
NM_005045.4(RELN):c.4457A>G (p.Asn1486Ser) rs202161592 0.00001
NM_005045.4(RELN):c.5630C>A (p.Ser1877Tyr) rs1253194353 0.00001
NM_005045.4(RELN):c.6467G>T (p.Gly2156Val) rs1830260428 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 0.00001
NM_005055.5(RAPSN):c.691-5C>T rs1291023159 0.00001
NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn) rs771732216 0.00001
NM_005076.5(CNTN2):c.940C>T (p.Arg314Ter) rs1422381117 0.00001
NM_005084.4(PLA2G7):c.663+1G>A rs201899866 0.00001
NM_005141.5(FGB):c.656A>G (p.Gln219Arg) rs778766319 0.00001
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr) rs370256882 0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676 0.00001
NM_005188.4(CBL):c.1244G>T (p.Gly415Val) rs1388592245 0.00001
NM_005188.4(CBL):c.1288G>A (p.Val430Met) rs991981291 0.00001
NM_005188.4(CBL):c.1298C>T (p.Pro433Leu) rs140627020 0.00001
NM_005188.4(CBL):c.1637C>T (p.Pro546Leu) rs751274314 0.00001
NM_005188.4(CBL):c.1925G>T (p.Ser642Ile) rs571045498 0.00001
NM_005188.4(CBL):c.2155G>A (p.Ala719Thr) rs757126995 0.00001
NM_005188.4(CBL):c.2530A>C (p.Ser844Arg) rs587778159 0.00001
NM_005188.4(CBL):c.2533G>A (p.Gly845Ser) rs997859448 0.00001
NM_005188.4(CBL):c.469A>G (p.Ile157Val) rs730880430 0.00001
NM_005236.3(ERCC4):c.1831G>A (p.Gly611Arg) rs749814308 0.00001
NM_005257.6(GATA6):c.508G>A (p.Val170Met) rs1343278963 0.00001
NM_005334.3(HCFC1):c.4376C>T (p.Thr1459Ile) rs935130398 0.00001
NM_005343.4(HRAS):c.112-13T>A rs766582484 0.00001
NM_005359.6(SMAD4):c.-3C>G rs886053892 0.00001
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val) rs747360831 0.00001
NM_005359.6(SMAD4):c.181A>G (p.Ile61Val) rs1064794204 0.00001
NM_005359.6(SMAD4):c.249+7C>T rs754207663 0.00001
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser) rs281875323 0.00001
NM_005359.6(SMAD4):c.457C>T (p.Pro153Ser) rs751763157 0.00001
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu) rs770798845 0.00001
NM_005359.6(SMAD4):c.698A>G (p.His233Arg) rs1555685910 0.00001
NM_005359.6(SMAD4):c.956-4A>G rs1295343500 0.00001
NM_005373.3(MPL):c.1327G>C (p.Gly443Arg) rs895171793 0.00001
NM_005373.3(MPL):c.185C>T (p.Thr62Ile) rs201727975 0.00001
NM_005476.7(GNE):c.1675G>A (p.Gly559Arg) rs762009737 0.00001
NM_005477.3(HCN4):c.1331A>T (p.Asp444Val) rs1444329166 0.00001
NM_005502.4(ABCA1):c.2375A>G (p.Glu792Gly) rs762990532 0.00001
NM_005502.4(ABCA1):c.5192C>G (p.Ser1731Cys) rs760507032 0.00001
NM_005502.4(ABCA1):c.5621T>G (p.Phe1874Cys) rs754410874 0.00001
NM_005502.4(ABCA1):c.6181G>A (p.Gly2061Ser) rs751548064 0.00001
NM_005502.4(ABCA1):c.6346A>G (p.Ile2116Val) rs752356763 0.00001
NM_005502.4(ABCA1):c.689G>A (p.Arg230His) rs767710036 0.00001
NM_005529.7(HSPG2):c.10777G>C (p.Val3593Leu) rs1342251864 0.00001
NM_005529.7(HSPG2):c.2420C>T (p.Thr807Met) rs1307282477 0.00001
NM_005559.4(LAMA1):c.7051-9T>A rs1472738373 0.00001
NM_005591.4(MRE11):c.1046G>A (p.Arg349Gln) rs864622683 0.00001
NM_005591.4(MRE11):c.1936G>A (p.Val646Ile) rs531090481 0.00001
NM_005591.4(MRE11):c.463C>T (p.Arg155Cys) rs587782512 0.00001
NM_005591.4(MRE11):c.661A>C (p.Ser221Arg) rs587781272 0.00001
NM_005591.4(MRE11):c.931G>T (p.Asp311Tyr) rs150138701 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.475G>A (p.Gly159Arg) rs760654579 0.00001
NM_005629.4(SLC6A8):c.913-8T>C rs1557045039 0.00001
NM_005633.4(SOS1):c.1202+3G>A rs904487658 0.00001
NM_005633.4(SOS1):c.1931T>C (p.Ile644Thr) rs769891933 0.00001
NM_005633.4(SOS1):c.2391-17T>C rs551161418 0.00001
NM_005633.4(SOS1):c.2489A>G (p.Asn830Ser) rs397517158 0.00001
NM_005633.4(SOS1):c.2511-9T>A rs769427441 0.00001
NM_005633.4(SOS1):c.2990T>C (p.Met997Thr) rs1321926273 0.00001
NM_005633.4(SOS1):c.2998A>T (p.Ser1000Cys) rs730881031 0.00001
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn) rs891035934 0.00001
NM_005633.4(SOS1):c.3257C>T (p.Pro1086Leu) rs730881028 0.00001
NM_005633.4(SOS1):c.350T>G (p.Val117Gly) rs201085754 0.00001
NM_005633.4(SOS1):c.3510+9A>G rs1229357367 0.00001
NM_005633.4(SOS1):c.3662G>C (p.Arg1221Thr) rs768987761 0.00001
NM_005633.4(SOS1):c.376G>A (p.Val126Ile) rs755770649 0.00001
NM_005633.4(SOS1):c.511-5T>C rs1558491271 0.00001
NM_005633.4(SOS1):c.688T>G (p.Phe230Val) rs397517177 0.00001
NM_005633.4(SOS1):c.754A>C (p.Ile252Leu) rs1158811958 0.00001
NM_005633.4(SOS1):c.847T>C (p.Phe283Leu) rs1222945881 0.00001
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys) rs756679265 0.00001
NM_005677.4(COLQ):c.1214G>T (p.Cys405Phe) rs1336071409 0.00001
NM_005677.4(COLQ):c.1A>G (p.Met1Val) rs754147251 0.00001
NM_005732.4(RAD50):c.129+5G>A rs587781409 0.00001
NM_005732.4(RAD50):c.1353T>A (p.Ser451Arg) rs587782523 0.00001
NM_005732.4(RAD50):c.2092A>G (p.Ile698Val) rs781213977 0.00001
NM_005732.4(RAD50):c.2502G>C (p.Glu834Asp) rs377438445 0.00001
NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile) rs769003601 0.00001
NM_005732.4(RAD50):c.3767G>A (p.Arg1256His) rs786203127 0.00001
NM_005732.4(RAD50):c.3824A>G (p.Glu1275Gly) rs372924978 0.00001
NM_005751.5(AKAP9):c.10523G>A (p.Cys3508Tyr) rs750007670 0.00001
NM_005751.5(AKAP9):c.11347C>T (p.Arg3783Ter) rs376277241 0.00001
NM_005751.5(AKAP9):c.11348G>A (p.Arg3783Gln) rs143967328 0.00001
NM_005751.5(AKAP9):c.2312C>A (p.Ala771Glu) rs1259922164 0.00001
NM_005751.5(AKAP9):c.5460G>T (p.Glu1820Asp) rs890787072 0.00001
NM_005787.6(ALG3):c.611C>T (p.Ala204Val) rs1719034314 0.00001
NM_005902.4(SMAD3):c.532+8C>T rs370879516 0.00001
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met) rs1057519360 0.00001
NM_006030.4(CACNA2D2):c.2935C>T (p.Leu979Phe) rs587637498 0.00001
NM_006073.4(TRDN):c.1567+2T>C rs1384476992 0.00001
NM_006118.4(HAX1):c.136C>T (p.Arg46Cys) rs1170911395 0.00001
NM_006180.6(NTRK2):c.1937+18G>C rs201024551 0.00001
NM_006231.4(POLE):c.1760A>G (p.Lys587Arg) rs750826256 0.00001
NM_006231.4(POLE):c.2214G>C (p.Lys738Asn) rs749305408 0.00001
NM_006231.4(POLE):c.272G>A (p.Gly91Glu) rs376348304 0.00001
NM_006231.4(POLE):c.4018A>G (p.Ser1340Gly) rs1248556901 0.00001
NM_006231.4(POLE):c.4445-7T>C rs754001064 0.00001
NM_006231.4(POLE):c.5678+1G>A rs138748289 0.00001
NM_006231.4(POLE):c.5726G>A (p.Arg1909Gln) rs201455049 0.00001
NM_006231.4(POLE):c.6298C>G (p.Pro2100Ala) rs562071800 0.00001
NM_006258.4(PRKG1):c.2053G>C (p.Asp685His) rs1398800687 0.00001
NM_006258.4(PRKG1):c.763-8C>T rs777859336 0.00001
NM_006270.5(RRAS):c.-5G>A rs1177664746 0.00001
NM_006270.5(RRAS):c.153+13del rs1224992203 0.00001
NM_006270.5(RRAS):c.167C>G (p.Ser56Cys) rs537601977 0.00001
NM_006270.5(RRAS):c.325G>A (p.Ala109Thr) rs1358894507 0.00001
NM_006270.5(RRAS):c.421G>A (p.Gly141Arg) rs373485975 0.00001
NM_006270.5(RRAS):c.496G>A (p.Val166Met) rs151171681 0.00001
NM_006270.5(RRAS):c.562C>T (p.Arg188Trp) rs538230538 0.00001
NM_006361.6(HOXB13):c.199C>T (p.Pro67Ser) rs587780161 0.00001
NM_006393.3(NEBL):c.1961A>T (p.Asn654Ile) rs1839521789 0.00001
NM_006415.4(SPTLC1):c.655C>T (p.Arg219Ter) rs758622840 0.00001
NM_006493.4(CLN5):c.472T>C (p.Trp158Arg) rs147065248 0.00001
NM_006506.5(RASA2):c.133+10G>A rs775544477 0.00001
NM_006506.5(RASA2):c.1886G>A (p.Arg629Gln) rs1469875156 0.00001
NM_006506.5(RASA2):c.2225C>T (p.Ala742Val) rs774848188 0.00001
NM_006506.5(RASA2):c.2329+7A>G rs1444704196 0.00001
NM_006506.5(RASA2):c.847T>G (p.Ser283Ala) rs186067272 0.00001
NM_006506.5(RASA2):c.863+13C>A rs776517254 0.00001
NM_006514.4(SCN10A):c.3619G>T (p.Ala1207Ser) rs756162245 0.00001
NM_006565.4(CTCF):c.2089G>A (p.Ala697Thr) rs201916739 0.00001
NM_006623.4(PHGDH):c.880C>T (p.Arg294Cys) rs1390624793 0.00001
NM_006662.3(SRCAP):c.4001C>T (p.Pro1334Leu) rs560375220 0.00001
NM_006766.5(KAT6A):c.2689G>C (p.Glu897Gln) rs1367238054 0.00001
NM_006766.5(KAT6A):c.3740G>T (p.Ser1247Ile) rs1564005684 0.00001
NM_006767.4(LZTR1):c.1149+3A>G rs542715642 0.00001
NM_006767.4(LZTR1):c.1260+11T>A rs1298556569 0.00001
NM_006767.4(LZTR1):c.1260+3G>A rs1408575907 0.00001
NM_006767.4(LZTR1):c.1283C>T (p.Thr428Met) rs1253225013 0.00001
NM_006767.4(LZTR1):c.1354-5T>A rs368421766 0.00001
NM_006767.4(LZTR1):c.1609C>T (p.Arg537Trp) rs754507552 0.00001
NM_006767.4(LZTR1):c.1615G>A (p.Gly539Ser) rs1232362523 0.00001
NM_006767.4(LZTR1):c.1616-11C>G rs767886246 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.1735G>A (p.Val579Met) rs765416902 0.00001
NM_006767.4(LZTR1):c.1842G>A (p.Met614Ile) rs763044573 0.00001
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791 0.00001
NM_006767.4(LZTR1):c.1907C>T (p.Pro636Leu) rs553579098 0.00001
NM_006767.4(LZTR1):c.1934T>G (p.Val645Gly) rs1190268151 0.00001
NM_006767.4(LZTR1):c.1943-6C>A rs757311430 0.00001
NM_006767.4(LZTR1):c.1964T>C (p.Met655Thr) rs199696566 0.00001
NM_006767.4(LZTR1):c.2216C>T (p.Ser739Leu) rs762991620 0.00001
NM_006767.4(LZTR1):c.2278T>C (p.Cys760Arg) rs1419388177 0.00001
NM_006767.4(LZTR1):c.2312A>G (p.Gln771Arg) rs766983171 0.00001
NM_006767.4(LZTR1):c.482del (p.Gln161fs) rs1924462309 0.00001
NM_006767.4(LZTR1):c.542C>T (p.Thr181Met) rs774992323 0.00001
NM_006767.4(LZTR1):c.589G>A (p.Ala197Thr) rs371522487 0.00001
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter) rs749437251 0.00001
NM_006772.3(SYNGAP1):c.2225G>A (p.Arg742Gln) rs959800067 0.00001
NM_006772.3(SYNGAP1):c.3583-3C>T rs771888857 0.00001
NM_006785.4(MALT1):c.1868C>T (p.Pro623Leu) rs1004957123 0.00001
NM_006904.7(PRKDC):c.1826C>T (p.Ala609Val) rs761291525 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006929.5(SKIC2):c.1732C>T (p.Arg578Cys) rs762204789 0.00001
NM_006939.4(SOS2):c.1633C>T (p.Arg545Cys) rs148019428 0.00001
NM_006939.4(SOS2):c.189G>C (p.Gln63His) rs771269309 0.00001
NM_006939.4(SOS2):c.1911A>T (p.Glu637Asp) rs751563078 0.00001
NM_006939.4(SOS2):c.2958+17C>T rs889359090 0.00001
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser) rs779413196 0.00001
NM_006939.4(SOS2):c.970-14T>A rs758285778 0.00001
NM_006941.4(SOX10):c.622A>G (p.Lys208Glu) rs1400625808 0.00001
NM_006946.4(SPTBN2):c.1753G>A (p.Glu585Lys) rs573639670 0.00001
NM_006947.4(SRP72):c.1477C>A (p.Leu493Ile) rs765292874 0.00001
NM_006949.4(STXBP2):c.184A>G (p.Asn62Asp) rs368283130 0.00001
NM_006949.4(STXBP2):c.902+4C>T rs1349313045 0.00001
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) rs777547764 0.00001
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser) rs1349969494 0.00001
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu) rs772912790 0.00001
NM_007078.3(LDB3):c.655C>T (p.Arg219Ter) rs727503123 0.00001
NM_007078.3(LDB3):c.892T>G (p.Ser298Ala) rs953198544 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_007194.4(CHEK2):c.1013T>A (p.Leu338His) rs374660293 0.00001
NM_007194.4(CHEK2):c.1037G>A (p.Arg346His) rs730881688 0.00001
NM_007194.4(CHEK2):c.1067C>T (p.Ser356Leu) rs121908703 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile) rs876658682 0.00001
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787 0.00001
NM_007194.4(CHEK2):c.1438G>A (p.Ala480Thr) rs773600515 0.00001
NM_007194.4(CHEK2):c.1462G>A (p.Asp488Asn) rs886041173 0.00001
NM_007194.4(CHEK2):c.1499C>T (p.Ser500Phe) rs28909981 0.00001
NM_007194.4(CHEK2):c.1522C>G (p.Leu508Val) rs876660898 0.00001
NM_007194.4(CHEK2):c.158C>G (p.Ser53Cys) rs753204096 0.00001
NM_007194.4(CHEK2):c.1591G>A (p.Glu531Lys) rs587781710 0.00001
NM_007194.4(CHEK2):c.1622C>T (p.Ala541Val) rs2052180370 0.00001
NM_007194.4(CHEK2):c.170C>T (p.Ser57Phe) rs730881695 0.00001
NM_007194.4(CHEK2):c.173G>C (p.Gly58Ala) rs1569170717 0.00001
NM_007194.4(CHEK2):c.200C>A (p.Ser67Tyr) rs886041171 0.00001
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013 0.00001
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788 0.00001
NM_007194.4(CHEK2):c.427C>T (p.His143Tyr) rs1060502688 0.00001
NM_007194.4(CHEK2):c.444+6T>C rs1060502720 0.00001
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly) rs587781652 0.00001
NM_007194.4(CHEK2):c.592+4A>G rs375905418 0.00001
NM_007194.4(CHEK2):c.59A>G (p.Gln20Arg) rs753257724 0.00001
NM_007194.4(CHEK2):c.629C>T (p.Ser210Leu) rs767253467 0.00001
NM_007194.4(CHEK2):c.683+9T>C rs1060504691 0.00001
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys) rs587782460 0.00001
NM_007194.4(CHEK2):c.906A>C (p.Glu302Asp) rs587780190 0.00001
NM_007194.4(CHEK2):c.908+10A>G rs774973319 0.00001
NM_007194.4(CHEK2):c.915A>C (p.Glu305Asp) rs587780191 0.00001
NM_007215.4(POLG2):c.-5G>A rs782806271 0.00001
NM_007294.4(BRCA1):c.1228G>A (p.Ala410Thr) rs779974365 0.00001
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr) rs80357488 0.00001
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln) rs80356915 0.00001
NM_007294.4(BRCA1):c.134+19dup rs768647585 0.00001
NM_007294.4(BRCA1):c.135-18T>G rs80358085 0.00001
NM_007294.4(BRCA1):c.1367T>C (p.Ile456Thr) rs80357360 0.00001
NM_007294.4(BRCA1):c.1383T>A (p.Phe461Leu) rs56046357 0.00001
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg) rs80357221 0.00001
NM_007294.4(BRCA1):c.1508A>G (p.Lys503Arg) rs62625304 0.00001
NM_007294.4(BRCA1):c.1510C>T (p.Arg504Cys) rs80357445 0.00001
NM_007294.4(BRCA1):c.1541C>T (p.Pro514Leu) rs56100707 0.00001
NM_007294.4(BRCA1):c.1555A>C (p.Lys519Gln) rs397508882 0.00001
NM_007294.4(BRCA1):c.1609A>G (p.Asn537Asp) rs398122639 0.00001
NM_007294.4(BRCA1):c.1658A>G (p.His553Arg) rs748431827 0.00001
NM_007294.4(BRCA1):c.1702C>T (p.Pro568Ser) rs755122577 0.00001
NM_007294.4(BRCA1):c.1711A>G (p.Ile571Val) rs1310719199 0.00001
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr) rs80357159 0.00001
NM_007294.4(BRCA1):c.172C>G (p.Pro58Ala) rs397508904 0.00001
NM_007294.4(BRCA1):c.1766G>T (p.Ser589Ile) rs1567798335 0.00001
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr) rs80356859 0.00001
NM_007294.4(BRCA1):c.1898C>T (p.Pro633Leu) rs398122647 0.00001
NM_007294.4(BRCA1):c.1907G>A (p.Cys636Tyr) rs398122649 0.00001
NM_007294.4(BRCA1):c.1920A>T (p.Gln640His) rs587782843 0.00001
NM_007294.4(BRCA1):c.1922T>C (p.Ile641Thr) rs730881474 0.00001
NM_007294.4(BRCA1):c.193A>G (p.Lys65Glu) rs756948486 0.00001
NM_007294.4(BRCA1):c.2043T>G (p.Ser681Arg) rs143920945 0.00001
NM_007294.4(BRCA1):c.2050C>T (p.Pro684Ser) rs397508934 0.00001
NM_007294.4(BRCA1):c.206C>T (p.Thr69Ile) rs273898675 0.00001
NM_007294.4(BRCA1):c.2078A>G (p.Asp693Gly) rs756748588 0.00001
NM_007294.4(BRCA1):c.2180C>T (p.Pro727Leu) rs80356912 0.00001
NM_007294.4(BRCA1):c.2222C>G (p.Ser741Cys) rs80357051 0.00001
NM_007294.4(BRCA1):c.2246A>T (p.Asp749Val) rs730881479 0.00001
NM_007294.4(BRCA1):c.2252T>C (p.Met751Thr) rs587781684 0.00001
NM_007294.4(BRCA1):c.2268G>C (p.Arg756Ser) rs80356884 0.00001
NM_007294.4(BRCA1):c.2312T>C (p.Leu771Ser) rs730881481 0.00001
NM_007294.4(BRCA1):c.2329T>G (p.Tyr777Asp) rs397507199 0.00001
NM_007294.4(BRCA1):c.2404G>C (p.Val802Leu) rs876660885 0.00001
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr) rs80357144 0.00001
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile) rs876659731 0.00001
NM_007294.4(BRCA1):c.2483_2485del (p.Gly828_Phe829delinsVal) rs80358331 0.00001
NM_007294.4(BRCA1):c.2564A>C (p.Gln855Pro) rs768001441 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.2690C>T (p.Pro897Leu) rs587776484 0.00001
NM_007294.4(BRCA1):c.2750T>C (p.Ile917Thr) rs587781492 0.00001
NM_007294.4(BRCA1):c.2791G>T (p.Val931Leu) rs763639161 0.00001
NM_007294.4(BRCA1):c.301+6T>C rs753859240 0.00001
NM_007294.4(BRCA1):c.302-11G>A rs1057521776 0.00001
NM_007294.4(BRCA1):c.302A>G (p.Tyr101Cys) rs587781798 0.00001
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049 0.00001
NM_007294.4(BRCA1):c.3155A>G (p.Asn1052Ser) rs398122672 0.00001
NM_007294.4(BRCA1):c.3169A>G (p.Ser1057Gly) rs80357479 0.00001
NM_007294.4(BRCA1):c.3211G>A (p.Glu1071Lys) rs41293445 0.00001
NM_007294.4(BRCA1):c.3221G>C (p.Arg1074Thr) rs786202155 0.00001
NM_007294.4(BRCA1):c.3267G>T (p.Leu1089Phe) rs767544239 0.00001
NM_007294.4(BRCA1):c.3305A>G (p.Asn1102Ser) rs80356900 0.00001
NM_007294.4(BRCA1):c.3533G>A (p.Ser1178Asn) rs1294360179 0.00001
NM_007294.4(BRCA1):c.3587C>T (p.Thr1196Ile) rs80356944 0.00001
NM_007294.4(BRCA1):c.3625T>G (p.Leu1209Val) rs273900711 0.00001
NM_007294.4(BRCA1):c.3652A>G (p.Ser1218Gly) rs80356894 0.00001
NM_007294.4(BRCA1):c.3746C>G (p.Thr1249Ser) rs80357099 0.00001
NM_007294.4(BRCA1):c.3750G>C (p.Glu1250Asp) rs145903082 0.00001
NM_007294.4(BRCA1):c.3784T>C (p.Ser1262Pro) rs1011096937 0.00001
NM_007294.4(BRCA1):c.380G>A (p.Ser127Asn) rs80357189 0.00001
NM_007294.4(BRCA1):c.3848A>G (p.His1283Arg) rs80357047 0.00001
NM_007294.4(BRCA1):c.3857G>C (p.Ser1286Thr) rs142383077 0.00001
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu) rs80357254 0.00001
NM_007294.4(BRCA1):c.3902G>A (p.Ser1301Asn) rs1057519496 0.00001
NM_007294.4(BRCA1):c.3944C>G (p.Pro1315Arg) rs80357500 0.00001
NM_007294.4(BRCA1):c.4028A>T (p.Asp1343Val) rs775339017 0.00001
NM_007294.4(BRCA1):c.4031A>G (p.Asp1344Gly) rs55639854 0.00001
NM_007294.4(BRCA1):c.4032T>A (p.Asp1344Glu) rs769589630 0.00001
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly) rs397507225 0.00001
NM_007294.4(BRCA1):c.4096+1G>A rs80358178 0.00001
NM_007294.4(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034 0.00001
NM_007294.4(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986 0.00001
NM_007294.4(BRCA1):c.4144T>A (p.Cys1382Ser) rs786202106 0.00001
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648 0.00001
NM_007294.4(BRCA1):c.4237G>A (p.Glu1413Lys) rs397509153 0.00001
NM_007294.4(BRCA1):c.4339C>A (p.Gln1447Lys) rs80357067 0.00001
NM_007294.4(BRCA1):c.4361T>C (p.Val1454Ala) rs587782606 0.00001
NM_007294.4(BRCA1):c.442-1G>T rs1351019392 0.00001
NM_007294.4(BRCA1):c.4484+6A>C rs879255297 0.00001
NM_007294.4(BRCA1):c.4485-8C>T rs397507234 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.455T>C (p.Leu152Pro) rs80357275 0.00001
NM_007294.4(BRCA1):c.4643C>T (p.Thr1548Met) rs273900737 0.00001
NM_007294.4(BRCA1):c.4649C>T (p.Thr1550Ile) rs80357076 0.00001
NM_007294.4(BRCA1):c.465A>T (p.Gln155His) rs864622260 0.00001
NM_007294.4(BRCA1):c.4675+20A>G rs780870669 0.00001
NM_007294.4(BRCA1):c.470C>G (p.Ser157Cys) rs80357045 0.00001
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr) rs80356987 0.00001
NM_007294.4(BRCA1):c.484G>C (p.Val162Leu) rs55816927 0.00001
NM_007294.4(BRCA1):c.4858A>G (p.Thr1620Ala) rs8176219 0.00001
NM_007294.4(BRCA1):c.488G>C (p.Arg163Thr) rs1369043501 0.00001
NM_007294.4(BRCA1):c.5066T>C (p.Met1689Thr) rs80357061 0.00001
NM_007294.4(BRCA1):c.5075-18G>A rs1060504564 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_007294.4(BRCA1):c.5153-3T>C rs375639469 0.00001
NM_007294.4(BRCA1):c.5327C>T (p.Pro1776Leu) rs398122695 0.00001
NM_007294.4(BRCA1):c.5406+5G>T rs80358073 0.00001
NM_007294.4(BRCA1):c.5408G>A (p.Gly1803Asp) rs80357149 0.00001
NM_007294.4(BRCA1):c.5501C>T (p.Thr1834Ile) rs730881500 0.00001
NM_007294.4(BRCA1):c.5504G>A (p.Arg1835Gln) rs273902776 0.00001
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr) rs755427809 0.00001
NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys) rs1555593290 0.00001
NM_007294.4(BRCA1):c.734A>T (p.Asp245Val) rs80356865 0.00001
NM_007294.4(BRCA1):c.788G>A (p.Gly263Asp) rs397509319 0.00001
NM_007294.4(BRCA1):c.80+7C>T rs80358098 0.00001
NM_007294.4(BRCA1):c.982T>C (p.Cys328Arg) rs748156170 0.00001
NM_007327.4(GRIN1):c.2170A>T (p.Asn724Tyr) rs766459225 0.00001
NM_012123.4(MTO1):c.791C>T (p.Pro264Leu) rs1025884753 0.00001
NM_012243.3(SLC35A3):c.73C>T (p.Arg25Cys) rs753997682 0.00001
NM_012388.4(BLOC1S6):c.335dup (p.His112fs) rs762974622 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012452.3(TNFRSF13B):c.11T>C (p.Leu4Pro) rs2087749301 0.00001
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val) rs374873455 0.00001
NM_012463.4(ATP6V0A2):c.1214C>T (p.Pro405Leu) rs750788949 0.00001
NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His) rs1295585374 0.00001
NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg) rs764356904 0.00001
NM_013382.7(POMT2):c.1699C>T (p.Pro567Ser) rs727502858 0.00001
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) rs372939905 0.00001
NM_013382.7(POMT2):c.244A>T (p.Ile82Phe) rs373944477 0.00001
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) rs775489616 0.00001
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) rs199719668 0.00001
NM_013975.4(LIG3):c.1193A>G (p.Gln398Arg) rs781367751 0.00001
NM_013975.4(LIG3):c.1555A>G (p.Asn519Asp) rs763624496 0.00001
NM_014000.3(VCL):c.1292T>G (p.Ile431Ser) rs766192312 0.00001
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg) rs397517236 0.00001
NM_014000.3(VCL):c.625A>T (p.Met209Leu) rs144683137 0.00001
NM_014028.4(OSTM1):c.56C>T (p.Pro19Leu) rs762141251 0.00001
NM_014049.5(ACAD9):c.1646G>A (p.Arg549Gln) rs750899715 0.00001
NM_014049.5(ACAD9):c.509C>T (p.Ala170Val) rs762521317 0.00001
NM_014225.6(PPP2R1A):c.78+7A>C rs1240197556 0.00001
NM_014233.4(UBTF):c.497A>G (p.Gln166Arg) rs1426632040 0.00001
NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys) rs1442079596 0.00001
NM_014363.6(SACS):c.6235T>C (p.Phe2079Leu) rs1364796862 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.6383A>G (p.Asp2128Gly) rs762352013 0.00001
NM_014363.6(SACS):c.7187C>G (p.Thr2396Ser) rs1303289497 0.00001
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu) rs1213203489 0.00001
NM_014391.3(ANKRD1):c.193C>A (p.Gln65Lys) rs139169078 0.00001
NM_014585.6(SLC40A1):c.887G>A (p.Arg296Gln) rs772246537 0.00001
NM_014639.4(SKIC3):c.3646G>A (p.Val1216Ile) rs555525541 0.00001
NM_014697.3(NOS1AP):c.1205C>T (p.Pro402Leu) rs1249679104 0.00001
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014780.5(CUL7):c.3000G>A (p.Met1000Ile) rs1239557315 0.00001
NM_014797.3(ZBTB24):c.1614G>C (p.Gln538His) rs778764491 0.00001
NM_014797.3(ZBTB24):c.569A>G (p.Asn190Ser) rs542752221 0.00001
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met) rs752912949 0.00001
NM_014875.3(KIF14):c.3248C>T (p.Thr1083Ile) rs766057394 0.00001
NM_014875.3(KIF14):c.88C>T (p.Leu30Phe) rs936413897 0.00001
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe) rs982668501 0.00001
NM_015021.3(ZNF292):c.3767A>T (p.Asp1256Val) rs753893386 0.00001
NM_015107.3(PHF8):c.257C>T (p.Thr86Met) rs782156466 0.00001
NM_015175.3(NBEAL2):c.6657C>A (p.Phe2219Leu) rs749279630 0.00001
NM_015267.4(CUX2):c.2708G>A (p.Arg903His) rs1376326529 0.00001
NM_015295.3(SMCHD1):c.1326T>G (p.Asp442Glu) rs199596161 0.00001
NM_015311.3(OBSL1):c.5590dup (p.Ser1864fs) rs750568728 0.00001
NM_015330.6(SPECC1L):c.1382G>A (p.Arg461Gln) rs1169891186 0.00001
NM_015335.5(MED13L):c.3155G>A (p.Arg1052Gln) rs977444793 0.00001
NM_015335.5(MED13L):c.6013A>T (p.Ile2005Phe) rs1876518341 0.00001
NM_015404.4(WHRN):c.2542-1G>A rs1250528376 0.00001
NM_015450.3(POT1):c.1832A>G (p.Asn611Ser) rs376707680 0.00001
NM_015488.5(PNKD):c.551T>C (p.Leu184Pro) rs1243303171 0.00001
NM_015506.3(MMACHC):c.230A>G (p.Asp77Gly) rs1217366809 0.00001
NM_015506.3(MMACHC):c.434T>C (p.Ile145Thr) rs759921519 0.00001
NM_015559.3(SETBP1):c.4724del (p.Gln1575fs) rs746925505 0.00001
NM_015627.3(LDLRAP1):c.223G>A (p.Val75Met) rs767491845 0.00001
NM_015627.3(LDLRAP1):c.339A>G (p.Ile113Met) rs780582666 0.00001
NM_015627.3(LDLRAP1):c.533-7C>A rs990692653 0.00001
NM_015681.6(B9D1):c.236C>T (p.Pro79Leu) rs919713893 0.00001
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln) rs886038205 0.00001
NM_015909.4(NBAS):c.335+4A>G rs1352462112 0.00001
NM_015909.4(NBAS):c.3838C>T (p.Arg1280Trp) rs368280415 0.00001
NM_015909.4(NBAS):c.6124A>G (p.Met2042Val) rs745940158 0.00001
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753 0.00001
NM_016042.4(EXOSC3):c.415G>C (p.Ala139Pro) rs387907195 0.00001
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu) rs373477232 0.00001
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu) rs200181419 0.00001
NM_016239.4(MYO15A):c.6437G>A (p.Arg2146Gln) rs760980785 0.00001
NM_016239.4(MYO15A):c.6634G>A (p.Glu2212Lys) rs371352836 0.00001
NM_016302.4(CRBN):c.1117C>T (p.Arg373Trp) rs775940573 0.00001
NM_016335.6(PRODH):c.1615+1G>C rs745902339 0.00001
NM_016343.4(CENPF):c.117T>G (p.Phe39Leu) rs746591240 0.00001
NM_016529.6(ATP8A2):c.1295C>T (p.Thr432Met) rs745650033 0.00001
NM_016953.4(PDE11A):c.2231T>G (p.Ile744Ser) rs776319665 0.00001
NM_017415.3(KLHL3):c.1292G>A (p.Arg431Gln) rs199469643 0.00001
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser) rs761072761 0.00001
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn) rs375931404 0.00001
NM_017617.5(NOTCH1):c.4014+8C>G rs748956877 0.00001
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val) rs748862853 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017636.4(TRPM4):c.1795A>G (p.Met599Val) rs139753455 0.00001
NM_017668.3(NDE1):c.948-3365C>T rs374628714 0.00001
NM_017755.6(NSUN2):c.1103C>T (p.Thr368Met) rs200705396 0.00001
NM_017757.3(ZNF407):c.3773G>A (p.Arg1258His) rs747340041 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017780.4(CHD7):c.7140C>G (p.Ile2380Met) rs1287878235 0.00001
NM_017952.6(PTCD3):c.719C>G (p.Ala240Gly) rs760231243 0.00001
NM_018006.5(TRMU):c.2T>G (p.Met1Arg) rs118203992 0.00001
NM_018062.4(FANCL):c.50C>G (p.Pro17Arg) rs773768206 0.00001
NM_018100.4(EFHC1):c.139A>G (p.Ile47Val) rs1764249771 0.00001
NM_018112.3(TMEM38B):c.-10G>A rs757700902 0.00001
NM_018129.4(PNPO):c.148G>A (p.Glu50Lys) rs549477447 0.00001
NM_018196.4(TMLHE):c.113C>T (p.Ala38Val) rs781834884 0.00001
NM_018297.4(NGLY1):c.1A>G (p.Met1Val) rs772627507 0.00001
NM_018297.4(NGLY1):c.931G>A (p.Glu311Lys) rs201791209 0.00001
NM_018341.3(ERMARD):c.1607T>C (p.Leu536Pro) rs1562350675 0.00001
NM_018418.5(SPATA7):c.620T>A (p.Phe207Tyr) rs1177680731 0.00001
NM_018838.5(NDUFA12):c.260A>G (p.His87Arg) rs781198263 0.00001
NM_018941.4(CLN8):c.509C>T (p.Thr170Met) rs188259026 0.00001
NM_019014.6(POLR1B):c.1976A>G (p.Gln659Arg) rs1476199084 0.00001
NM_019066.5(MAGEL2):c.3115G>A (p.Val1039Met) rs1431980186 0.00001
NM_019066.5(MAGEL2):c.3526G>A (p.Glu1176Lys) rs1890340333 0.00001
NM_019098.5(CNGB3):c.1306A>C (p.Ser436Arg) rs748354081 0.00001
NM_019098.5(CNGB3):c.680T>C (p.Leu227Pro) rs752920111 0.00001
NM_019109.5(ALG1):c.1146G>A (p.Met382Ile) rs778368053 0.00001
NM_019109.5(ALG1):c.1359G>C (p.Trp453Cys) rs775918513 0.00001
NM_019842.4(KCNQ5):c.2444T>C (p.Leu815Pro) rs1204507146 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 0.00001
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00001
NM_020117.11(LARS1):c.3286A>G (p.Ile1096Val) rs373129039 0.00001
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys) rs1333357031 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020297.4(ABCC9):c.3669+1G>C rs950805207 0.00001
NM_020297.4(ABCC9):c.4094T>C (p.Ile1365Thr) rs1328493674 0.00001
NM_020297.4(ABCC9):c.4512T>A (p.Ala1504=) rs777591544 0.00001
NM_020320.5(RARS2):c.1024A>G (p.Met342Val) rs387907048 0.00001
NM_020320.5(RARS2):c.1650+5G>A rs750433723 0.00001
NM_020338.4(ZMIZ1):c.595C>G (p.Pro199Ala) rs1226022539 0.00001
NM_020365.5(EIF2B3):c.687T>G (p.Ile229Met) rs538917969 0.00001
NM_020365.5(EIF2B3):c.935G>A (p.Arg312Gln) rs776505832 0.00001
NM_020366.4(RPGRIP1):c.953C>T (p.Ala318Val) rs1325466987 0.00001
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu) rs908189174 0.00001
NM_020458.4(TTC7A):c.2515G>A (p.Ala839Thr) rs202044972 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_020717.5(SHROOM4):c.30C>G (p.Tyr10Ter) rs1428157543 0.00001
NM_020745.4(AARS2):c.1213G>A (p.Glu405Lys) rs587777592 0.00001
NM_020822.3(KCNT1):c.2905G>A (p.Val969Ile) rs1216283172 0.00001
NM_020822.3(KCNT1):c.3223G>A (p.Val1075Met) rs771889785 0.00001
NM_020919.4(ALS2):c.329G>T (p.Gly110Val) rs758017229 0.00001
NM_020928.2(ZSWIM6):c.2281C>T (p.Arg761Trp) rs756935198 0.00001
NM_020975.6(RET):c.1277G>A (p.Cys426Tyr) rs1387494484 0.00001
NM_020975.6(RET):c.1352C>T (p.Thr451Met) rs774092678 0.00001
NM_020975.6(RET):c.2078G>A (p.Arg693His) rs1332256523 0.00001
NM_020975.6(RET):c.2080C>T (p.Arg694Trp) rs193922700 0.00001
NM_020975.6(RET):c.2607+5G>A rs143862573 0.00001
NM_020975.6(RET):c.628G>A (p.Glu210Lys) rs1060500762 0.00001
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420 0.00001
NM_021008.4(DEAF1):c.1294A>C (p.Thr432Pro) rs1352647775 0.00001
NM_021120.4(DLG3):c.358-11T>C rs1272977200 0.00001
NM_021625.5(TRPV4):c.2336+1G>A rs771778984 0.00001
NM_021830.5(TWNK):c.1429C>T (p.Arg477Cys) rs760427334 0.00001
NM_021830.5(TWNK):c.1519G>A (p.Val507Ile) rs369588002 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021942.6(TRAPPC11):c.2976G>A (p.Met992Ile) rs1363823033 0.00001
NM_022081.6(HPS4):c.469T>C (p.Phe157Leu) rs753375046 0.00001
NM_022114.4(PRDM16):c.658G>T (p.Val220Leu) rs746597198 0.00001
NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu) rs397517308 0.00001
NM_022124.6(CDH23):c.2975C>T (p.Thr992Met) rs765270590 0.00001
NM_022124.6(CDH23):c.3038G>A (p.Arg1013Gln) rs767888617 0.00001
NM_022124.6(CDH23):c.4662C>A (p.Asp1554Glu) rs771353319 0.00001
NM_022124.6(CDH23):c.5536G>A (p.Asp1846Asn) rs746323558 0.00001
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln) rs759439688 0.00001
NM_022124.6(CDH23):c.7723G>A (p.Glu2575Lys) rs762925264 0.00001
NM_022124.6(CDH23):c.8005A>G (p.Ile2669Val) rs1841701549 0.00001
NM_022124.6(CDH23):c.901C>T (p.Arg301Trp) rs397517364 0.00001
NM_022124.6(CDH23):c.9094G>A (p.Asp3032Asn) rs368603948 0.00001
NM_022132.5(MCCC2):c.116C>T (p.Ser39Phe) rs398124371 0.00001
NM_022168.4(IFIH1):c.230G>A (p.Arg77Gln) rs367851471 0.00001
NM_022168.4(IFIH1):c.77T>A (p.Ile26Asn) rs1442046271 0.00001
NM_022356.4(P3H1):c.148G>A (p.Asp50Asn) rs375176399 0.00001
NM_022437.3(ABCG8):c.1212-10G>C rs765938367 0.00001
NM_022437.3(ABCG8):c.787C>T (p.Arg263Trp) rs775957691 0.00001
NM_022489.4(INF2):c.700C>T (p.Arg234Ter) rs750014286 0.00001
NM_022725.4(FANCF):c.436C>G (p.Leu146Val) rs779428484 0.00001
NM_022725.4(FANCF):c.904G>A (p.Val302Met) rs1196670435 0.00001
NM_022726.4(ELOVL4):c.370A>G (p.Ile124Val) rs192103032 0.00001
NM_022770.4(GINS3):c.242G>A (p.Arg81Gln) rs765540461 0.00001
NM_023110.3(FGFR1):c.1333C>T (p.Arg445Trp) rs781608303 0.00001
NM_023110.3(FGFR1):c.178G>A (p.Asp60Asn) rs1586379709 0.00001
NM_024105.4(ALG12):c.1048G>A (p.Gly350Arg) rs377095724 0.00001
NM_024120.5(NDUFAF5):c.285T>A (p.Asp95Glu) rs781759926 0.00001
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln) rs886044183 0.00001
NM_024306.5(FA2H):c.649G>A (p.Gly217Arg) rs775750642 0.00001
NM_024306.5(FA2H):c.691T>C (p.Tyr231His) rs878855081 0.00001
NM_024306.5(FA2H):c.703C>T (p.Arg235Cys) rs387907039 0.00001
NM_024306.5(FA2H):c.965C>T (p.Ser322Leu) rs373010581 0.00001
NM_024312.5(GNPTAB):c.1363G>T (p.Ala455Ser) rs137853822 0.00001
NM_024312.5(GNPTAB):c.3314A>G (p.Tyr1105Cys) rs775751653 0.00001
NM_024312.5(GNPTAB):c.3694-1G>A rs1297022622 0.00001
NM_024312.5(GNPTAB):c.961A>G (p.Ser321Gly) rs137853824 0.00001
NM_024334.3(TMEM43):c.1000+2T>C rs748618994 0.00001
NM_024334.3(TMEM43):c.646G>A (p.Val216Met) rs143735210 0.00001
NM_024407.5(NDUFS7):c.343C>T (p.Arg115Cys) rs11551664 0.00001
NM_024407.5(NDUFS7):c.47G>A (p.Gly16Asp) rs552179138 0.00001
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714 0.00001
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn) rs780446276 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser) rs1478081073 0.00001
NM_024496.4(IRF2BPL):c.631C>G (p.Leu211Val) rs1480750400 0.00001
NM_024529.5(CDC73):c.841C>T (p.Arg281Cys) rs754070093 0.00001
NM_024537.4(CARS2):c.1591C>T (p.Arg531Trp) rs566143026 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser) rs759275651 0.00001
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln) rs372092113 0.00001
NM_024649.5(BBS1):c.952-20C>T rs1189838889 0.00001
NM_024675.4(PALB2):c.1006A>C (p.Asn336His) rs1060502774 0.00001
NM_024675.4(PALB2):c.1066A>G (p.Lys356Glu) rs1202130508 0.00001
NM_024675.4(PALB2):c.1123C>A (p.Leu375Ile) rs373298267 0.00001
NM_024675.4(PALB2):c.1178A>G (p.Lys393Arg) rs765898856 0.00001
NM_024675.4(PALB2):c.1383T>A (p.Ser461Arg) rs768482110 0.00001
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala) rs150636811 0.00001
NM_024675.4(PALB2):c.1468C>G (p.Pro490Ala) rs878855101 0.00001
NM_024675.4(PALB2):c.1526G>A (p.Gly509Asp) rs786203176 0.00001
NM_024675.4(PALB2):c.161A>G (p.Glu54Gly) rs730881898 0.00001
NM_024675.4(PALB2):c.1659C>G (p.His553Gln) rs370318597 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe) rs1169756751 0.00001
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys) rs62625277 0.00001
NM_024675.4(PALB2):c.2129C>T (p.Thr710Met) rs759024828 0.00001
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu) rs199743500 0.00001
NM_024675.4(PALB2):c.2311A>G (p.Ser771Gly) rs786202846 0.00001
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser) rs786203296 0.00001
NM_024675.4(PALB2):c.2356C>T (p.His786Tyr) rs786203608 0.00001
NM_024675.4(PALB2):c.2435C>T (p.Pro812Leu) rs774502617 0.00001
NM_024675.4(PALB2):c.2514+3dup rs587781602 0.00001
NM_024675.4(PALB2):c.2619T>G (p.Ser873Arg) rs587782387 0.00001
NM_024675.4(PALB2):c.2624T>C (p.Met875Thr) rs878855110 0.00001
NM_024675.4(PALB2):c.2653C>A (p.Pro885Thr) rs878855111 0.00001
NM_024675.4(PALB2):c.2732C>A (p.Thr911Asn) rs180177123 0.00001
NM_024675.4(PALB2):c.2788A>T (p.Asn930Tyr) rs1227325413 0.00001
NM_024675.4(PALB2):c.2792T>G (p.Leu931Arg) rs773831304 0.00001
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln) rs515726103 0.00001
NM_024675.4(PALB2):c.2896A>G (p.Ile966Val) rs786204248 0.00001
NM_024675.4(PALB2):c.2971G>T (p.Val991Phe) rs765175665 0.00001
NM_024675.4(PALB2):c.3044C>T (p.Thr1015Ile) rs367840862 0.00001
NM_024675.4(PALB2):c.3061G>A (p.Gly1021Arg) rs143808171 0.00001
NM_024675.4(PALB2):c.3073G>A (p.Ala1025Thr) rs746872839 0.00001
NM_024675.4(PALB2):c.3106G>C (p.Val1036Leu) rs756906403 0.00001
NM_024675.4(PALB2):c.3128G>C (p.Gly1043Ala) rs377713277 0.00001
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) rs515726108 0.00001
NM_024675.4(PALB2):c.3232T>A (p.Cys1078Ser) rs876659587 0.00001
NM_024675.4(PALB2):c.3331C>G (p.Pro1111Ala) rs864622193 0.00001
NM_024675.4(PALB2):c.3449T>G (p.Leu1150Arg) rs45566737 0.00001
NM_024675.4(PALB2):c.3476G>T (p.Trp1159Leu) rs587782050 0.00001
NM_024675.4(PALB2):c.3538A>G (p.Ile1180Val) rs863224788 0.00001
NM_024675.4(PALB2):c.3539T>C (p.Ile1180Thr) rs180177139 0.00001
NM_024675.4(PALB2):c.353T>C (p.Ile118Thr) rs370404126 0.00001
NM_024675.4(PALB2):c.48+10G>C rs1311681895 0.00001
NM_024675.4(PALB2):c.704C>A (p.Thr235Lys) rs1385914265 0.00001
NM_024675.4(PALB2):c.764A>G (p.Asp255Gly) rs776753788 0.00001
NM_024675.4(PALB2):c.769G>A (p.Gly257Ser) rs587780824 0.00001
NM_024675.4(PALB2):c.813T>A (p.Ser271Arg) rs786203246 0.00001
NM_024675.4(PALB2):c.856C>T (p.Pro286Ser) rs45585833 0.00001
NM_024675.4(PALB2):c.878G>A (p.Gly293Asp) rs876660398 0.00001
NM_024675.4(PALB2):c.928A>G (p.Ser310Gly) rs45561331 0.00001
NM_024675.4(PALB2):c.932A>G (p.Lys311Arg) rs755129205 0.00001
NM_024685.4(BBS10):c.226C>T (p.Leu76Phe) rs767638924 0.00001
NM_024685.4(BBS10):c.986C>T (p.Ser329Leu) rs1000990130 0.00001
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132 0.00001
NM_025000.4(DCAF17):c.508C>G (p.Gln170Glu) rs1694851443 0.00001
NM_025074.7(FRAS1):c.4011G>A (p.Met1337Ile) rs1175649987 0.00001
NM_025074.7(FRAS1):c.5455A>G (p.Asn1819Asp) rs753627771 0.00001
NM_025074.7(FRAS1):c.8131T>C (p.Tyr2711His) rs541053205 0.00001
NM_025077.4(TOE1):c.-38G>C rs774530388 0.00001
NM_025077.4(TOE1):c.6C>T (p.Ala2=) rs876659248 0.00001
NM_025114.4(CEP290):c.1345A>G (p.Lys449Glu) rs747463477 0.00001
NM_025114.4(CEP290):c.1465C>A (p.Leu489Ile) rs1231028240 0.00001
NM_025114.4(CEP290):c.2608A>C (p.Met870Leu) rs2038321332 0.00001
NM_025114.4(CEP290):c.5573C>G (p.Thr1858Ser) rs761261059 0.00001
NM_025114.4(CEP290):c.5709+5G>A rs2035845308 0.00001
NM_025114.4(CEP290):c.770A>G (p.Tyr257Cys) rs367772168 0.00001
NM_025137.4(SPG11):c.1255A>G (p.Ser419Gly) rs747719668 0.00001
NM_025137.4(SPG11):c.3291+3A>G rs773192977 0.00001
NM_025215.6(PUS1):c.973G>A (p.Val325Met) rs1156671661 0.00001
NM_025216.3(WNT10A):c.1079G>T (p.Arg360Leu) rs893127185 0.00001
NM_025216.3(WNT10A):c.661G>A (p.Gly221Arg) rs775380022 0.00001
NM_025265.4(TSEN2):c.1369C>T (p.Arg457Ter) rs139032110 0.00001
NM_030662.4(MAP2K2):c.1019C>T (p.Pro340Leu) rs1277686711 0.00001
NM_030662.4(MAP2K2):c.1036G>A (p.Val346Ile) rs1015139062 0.00001
NM_030662.4(MAP2K2):c.1092A>C (p.Thr364=) rs779378237 0.00001
NM_030662.4(MAP2K2):c.1177G>A (p.Gly393Ser) rs755887476 0.00001
NM_030662.4(MAP2K2):c.1195G>A (p.Ala399Thr) rs1382101858 0.00001
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267 0.00001
NM_030662.4(MAP2K2):c.451-9G>A rs765412949 0.00001
NM_030662.4(MAP2K2):c.528+17C>G rs772831774 0.00001
NM_030662.4(MAP2K2):c.531T>C (p.Val177=) rs528169616 0.00001
NM_030662.4(MAP2K2):c.987A>G (p.Pro329=) rs1173273857 0.00001
NM_030777.4(SLC2A10):c.1187C>T (p.Pro396Leu) rs755654519 0.00001
NM_030777.4(SLC2A10):c.598C>T (p.Pro200Ser) rs764618846 0.00001
NM_030954.4(RNF170):c.640A>G (p.Ile214Val) rs587780441 0.00001
NM_030973.4(MED25):c.1210G>A (p.Gly404Arg) rs1213960931 0.00001
NM_031206.7(LAS1L):c.7T>C (p.Trp3Arg) rs754948682 0.00001
NM_031448.6(C19orf12):c.83C>T (p.Ser28Phe) rs1204865094 0.00001
NM_031471.6(FERMT3):c.1741G>A (p.Val581Met) rs767660746 0.00001
NM_031885.5(BBS2):c.345+5G>A rs1430976492 0.00001
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.103G>A (p.Gly35Arg) rs373104267 0.00001
NM_032043.3(BRIP1):c.1054T>C (p.Tyr352His) rs730881632 0.00001
NM_032043.3(BRIP1):c.1114C>T (p.Leu372Phe) rs786202637 0.00001
NM_032043.3(BRIP1):c.1216G>T (p.Ala406Ser) rs1060501747 0.00001
NM_032043.3(BRIP1):c.1467T>G (p.Ile489Met) rs587780230 0.00001
NM_032043.3(BRIP1):c.1532A>G (p.Glu511Gly) rs1555603565 0.00001
NM_032043.3(BRIP1):c.1594A>G (p.Met532Val) rs876658383 0.00001
NM_032043.3(BRIP1):c.1650T>G (p.Ile550Met) rs587782254 0.00001
NM_032043.3(BRIP1):c.1742G>A (p.Arg581Gln) rs587778133 0.00001
NM_032043.3(BRIP1):c.1936-7A>T rs1427111542 0.00001
NM_032043.3(BRIP1):c.1984G>A (p.Ala662Thr) rs571340013 0.00001
NM_032043.3(BRIP1):c.2056A>G (p.Thr686Ala) rs769820537 0.00001
NM_032043.3(BRIP1):c.2167G>A (p.Val723Ile) rs145616741 0.00001
NM_032043.3(BRIP1):c.2284C>T (p.Arg762Cys) rs587778136 0.00001
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val) rs142806416 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.2393G>A (p.Arg798Gln) rs375082407 0.00001
NM_032043.3(BRIP1):c.254C>T (p.Ser85Leu) rs587781830 0.00001
NM_032043.3(BRIP1):c.2594G>A (p.Arg865Gln) rs781609846 0.00001
NM_032043.3(BRIP1):c.2623G>C (p.Glu875Gln) rs876659099 0.00001
NM_032043.3(BRIP1):c.2705T>C (p.Ile902Thr) rs1060501781 0.00001
NM_032043.3(BRIP1):c.2801T>C (p.Phe934Ser) rs778916092 0.00001
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr) rs786201632 0.00001
NM_032043.3(BRIP1):c.3050C>T (p.Pro1017Leu) rs747907706 0.00001
NM_032043.3(BRIP1):c.3083A>T (p.Asn1028Ile) rs1060501762 0.00001
NM_032043.3(BRIP1):c.3215C>T (p.Thr1072Ile) rs786204068 0.00001
NM_032043.3(BRIP1):c.3236T>C (p.Ile1079Thr) rs150813402 0.00001
NM_032043.3(BRIP1):c.3274C>T (p.Pro1092Ser) rs768065626 0.00001
NM_032043.3(BRIP1):c.3275C>T (p.Pro1092Leu) rs587780830 0.00001
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly) rs769359514 0.00001
NM_032119.4(ADGRV1):c.12032G>T (p.Gly4011Val) rs369044000 0.00001
NM_032119.4(ADGRV1):c.2285G>A (p.Arg762His) rs757860505 0.00001
NM_032119.4(ADGRV1):c.3338C>A (p.Ala1113Asp) rs750334086 0.00001
NM_032119.4(ADGRV1):c.8963C>T (p.Pro2988Leu) rs1172291379 0.00001
NM_032119.4(ADGRV1):c.929G>A (p.Gly310Glu) rs766790920 0.00001
NM_032119.4(ADGRV1):c.940G>A (p.Ala314Thr) rs533540279 0.00001
NM_032316.3(NICN1):c.*2325C>T rs753743263 0.00001
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser) rs864622711 0.00001
NM_033028.5(BBS4):c.706T>C (p.Tyr236His) rs746172575 0.00001
NM_033087.4(ALG2):c.85G>C (p.Ala29Pro) rs202053471 0.00001
NM_033360.4(KRAS):c.*4+1G>A rs780979221 0.00001
NM_033360.4(KRAS):c.491G>A (p.Arg164Gln) rs758575947 0.00001
NM_033380.3(COL4A5):c.3899G>C (p.Gly1300Ala) rs1252928330 0.00001
NM_033629.6(TREX1):c.308A>T (p.Asn103Ile) rs770158462 0.00001
NM_033629.6(TREX1):c.590C>T (p.Ala197Val) rs201954133 0.00001
NM_033629.6(TREX1):c.95C>T (p.Thr32Met) rs755138065 0.00001
NM_033641.4(COL4A6):c.4243G>A (p.Gly1415Ser) rs750744219 0.00001
NM_053025.4(MYLK):c.1315G>A (p.Gly439Arg) rs190877071 0.00001
NM_053025.4(MYLK):c.1472A>G (p.Asn491Ser) rs149802186 0.00001
NM_053025.4(MYLK):c.1690G>A (p.Gly564Ser) rs1275836800 0.00001
NM_053025.4(MYLK):c.250G>A (p.Gly84Ser) rs568619953 0.00001
NM_053025.4(MYLK):c.2899G>A (p.Val967Met) rs201711566 0.00001
NM_053025.4(MYLK):c.3203A>G (p.Lys1068Arg) rs148033472 0.00001
NM_053025.4(MYLK):c.3985+3G>A rs2059656037 0.00001
NM_053025.4(MYLK):c.5620G>A (p.Gly1874Arg) rs532767014 0.00001
NM_054012.4(ASS1):c.-5-10C>G rs375136377 0.00001
NM_054012.4(ASS1):c.1173C>A (p.Phe391Leu) rs1554725724 0.00001
NM_054012.4(ASS1):c.647C>A (p.Ala216Asp) rs1043964127 0.00001
NM_058216.3(RAD51C):c.1027-3C>T rs587782459 0.00001
NM_058216.3(RAD51C):c.1096C>T (p.Arg366Trp) rs587782449 0.00001
NM_058216.3(RAD51C):c.1109G>A (p.Arg370Gln) rs373170458 0.00001
NM_058216.3(RAD51C):c.121G>A (p.Val41Met) rs879254131 0.00001
NM_058216.3(RAD51C):c.128C>T (p.Pro43Leu) rs766958594 0.00001
NM_058216.3(RAD51C):c.252G>T (p.Lys84Asn) rs786202890 0.00001
NM_058216.3(RAD51C):c.28A>T (p.Met10Leu) rs1452865935 0.00001
NM_058216.3(RAD51C):c.370T>A (p.Cys124Ser) rs1273995533 0.00001
NM_058216.3(RAD51C):c.406A>T (p.Met136Leu) rs587780254 0.00001
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr) rs587780838 0.00001
NM_058216.3(RAD51C):c.571+4A>G rs587780257 0.00001
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln) rs370393672 0.00001
NM_058216.3(RAD51C):c.779G>A (p.Arg260Gln) rs730881926 0.00001
NM_058216.3(RAD51C):c.892G>C (p.Val298Leu) rs1555602145 0.00001
NM_078470.6(COX15):c.430T>C (p.Phe144Leu) rs767594997 0.00001
NM_080473.5(GATA5):c.1175G>A (p.Cys392Tyr) rs782345116 0.00001
NM_080632.3(UPF3B):c.76G>A (p.Gly26Ser) rs1050045607 0.00001
NM_130837.3(OPA1):c.2228C>T (p.Pro743Leu) rs746579947 0.00001
NM_130837.3(OPA1):c.302G>A (p.Arg101His) rs201856560 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_138395.4(MARS2):c.424C>T (p.Arg142Trp) rs794726870 0.00001
NM_138422.4(ADAT3):c.806C>T (p.Pro269Leu) rs748493151 0.00001
NM_138477.4(CDAN1):c.1867C>T (p.Arg623Trp) rs141007889 0.00001
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg) rs777377414 0.00001
NM_138694.4(PKHD1):c.10132T>G (p.Trp3378Gly) rs1784939891 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.6046A>T (p.Ser2016Cys) rs1413693039 0.00001
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235 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.977G>T (p.Gly326Val) rs778329699 0.00001
NM_138927.4(SON):c.3300C>G (p.Asp1100Glu) rs1160761975 0.00001
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976 0.00001
NM_139076.3(ABRAXAS1):c.1102_1104del (p.Lys368del) rs878855206 0.00001
NM_139076.3(ABRAXAS1):c.1152A>C (p.Lys384Asn) rs763567031 0.00001
NM_139076.3(ABRAXAS1):c.233G>A (p.Gly78Asp) rs587780265 0.00001
NM_139076.3(ABRAXAS1):c.311G>A (p.Arg104His) rs542570943 0.00001
NM_139076.3(ABRAXAS1):c.473A>T (p.Lys158Ile) rs1445851548 0.00001
NM_139076.3(ABRAXAS1):c.601A>C (p.Lys201Gln) rs901660662 0.00001
NM_139076.3(ABRAXAS1):c.658G>A (p.Ala220Thr) rs748861737 0.00001
NM_139076.3(ABRAXAS1):c.796+1G>A rs1262378912 0.00001
NM_139076.3(ABRAXAS1):c.912A>T (p.Arg304Ser) rs778300694 0.00001
NM_139242.4(MTFMT):c.434T>G (p.Val145Gly) rs1064793194 0.00001
NM_139276.3(STAT3):c.1919A>T (p.Tyr640Phe) rs769031989 0.00001
NM_139276.3(STAT3):c.1981G>T (p.Asp661Tyr) rs747639500 0.00001
NM_139276.3(STAT3):c.368C>T (p.Ala123Val) rs1475754644 0.00001
NM_139276.3(STAT3):c.372+10G>C rs766222549 0.00001
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met) rs756709134 0.00001
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg) rs876657929 0.00001
NM_144596.4(TTC8):c.452T>A (p.Ile151Asn) rs774233751 0.00001
NM_144670.6(A2ML1):c.1231A>C (p.Thr411Pro) rs371576976 0.00001
NM_144670.6(A2ML1):c.1248+7A>G rs765019682 0.00001
NM_144670.6(A2ML1):c.1370G>A (p.Arg457Gln) rs765417831 0.00001
NM_144670.6(A2ML1):c.1683+6A>G rs370846070 0.00001
NM_144670.6(A2ML1):c.1991C>T (p.Ser664Leu) rs187676229 0.00001
NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys) rs369633399 0.00001
NM_144670.6(A2ML1):c.2429C>A (p.Ala810Asp) rs778855832 0.00001
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe) rs1435627448 0.00001
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn) rs754026014 0.00001
NM_144670.6(A2ML1):c.2712+12T>A rs774960083 0.00001
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met) rs868320081 0.00001
NM_144670.6(A2ML1):c.3502+14G>C rs1277207408 0.00001
NM_144670.6(A2ML1):c.4221+17C>T rs772852256 0.00001
NM_144670.6(A2ML1):c.4221+2T>C rs959378735 0.00001
NM_144670.6(A2ML1):c.540T>G (p.Ile180Met) rs377551636 0.00001
NM_144670.6(A2ML1):c.62C>T (p.Pro21Leu) rs771087097 0.00001
NM_144670.6(A2ML1):c.844C>A (p.Leu282Ile) rs1482427203 0.00001
NM_144670.6(A2ML1):c.970+13C>T rs748203389 0.00001
NM_144997.7(FLCN):c.1390G>A (p.Glu464Lys) rs1471793185 0.00001
NM_145239.3(PRRT2):c.490G>A (p.Glu164Lys) rs752707110 0.00001
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp) rs387907128 0.00001
NM_152296.5(ATP1A3):c.274A>G (p.Ile92Val) rs933392084 0.00001
NM_152305.3(POGLUT1):c.466T>A (p.Tyr156Asn) rs751780827 0.00001
NM_152328.5(ADSS1):c.502G>A (p.Gly168Arg) rs1290246650 0.00001
NM_152384.3(BBS5):c.900G>C (p.Val300=) rs757001492 0.00001
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly) rs959758606 0.00001
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys) rs373381933 0.00001
NM_152906.7(TANGO2):c.711-11C>G rs201850506 0.00001
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp) rs754476100 0.00001
NM_153240.5(NPHP3):c.1190G>A (p.Arg397His) rs755094682 0.00001
NM_153240.5(NPHP3):c.3494G>A (p.Arg1165Gln) rs138630766 0.00001
NM_153252.5(BRWD3):c.4255T>G (p.Leu1419Val) rs863224851 0.00001
NM_153676.4(USH1C):c.2191C>T (p.Arg731Trp) rs397517874 0.00001
NM_153700.2(STRC):c.4792C>G (p.Leu1598Val) rs753942597 0.00001
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln) rs750950408 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153717.3(EVC):c.1955G>A (p.Arg652His) rs765024763 0.00001
NM_153717.3(EVC):c.2740C>T (p.Leu914Phe) rs370825749 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_170606.3(KMT2C):c.10239C>G (p.Ile3413Met) rs1422436901 0.00001
NM_170606.3(KMT2C):c.14101C>T (p.Leu4701Phe) rs772587003 0.00001
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn) rs781220804 0.00001
NM_170606.3(KMT2C):c.6115G>C (p.Gly2039Arg) rs376573154 0.00001
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) rs587778510 0.00001
NM_170606.3(KMT2C):c.9041G>T (p.Gly3014Val) rs2093213467 0.00001
NM_170707.4(LMNA):c.*722T>C rs921268252 0.00001
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro) rs267607564 0.00001
NM_170707.4(LMNA):c.1870C>T (p.Arg624Cys) rs140455668 0.00001
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys) rs987157491 0.00001
NM_170784.3(MKKS):c.155G>A (p.Gly52Asp) rs28937875 0.00001
NM_170784.3(MKKS):c.320A>G (p.Gln107Arg) rs768772248 0.00001
NM_172107.4(KCNQ2):c.1394G>A (p.Arg465Gln) rs1459078042 0.00001
NM_172107.4(KCNQ2):c.2117C>A (p.Ala706Asp) rs980128101 0.00001
NM_172107.4(KCNQ2):c.2332G>A (p.Glu778Lys) rs1264858438 0.00001
NM_173076.3(ABCA12):c.899A>G (p.Tyr300Cys) rs778915456 0.00001
NM_173477.5(USH1G):c.1093G>A (p.Asp365Asn) rs538983393 0.00001
NM_173477.5(USH1G):c.1339C>T (p.Arg447Trp) rs773872479 0.00001
NM_173483.4(CYP4F22):c.1064C>T (p.Pro355Leu) rs760727576 0.00001
NM_173483.4(CYP4F22):c.314C>T (p.Pro105Leu) rs749972738 0.00001
NM_173495.3(PTCHD1):c.583G>A (p.Val195Ile) rs769407241 0.00001
NM_173660.5(DOK7):c.635T>C (p.Leu212Pro) rs553985062 0.00001
NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala) rs756210130 0.00001
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.1181G>T (p.Gly394Val) rs376066497 0.00001
NM_174936.4(PCSK9):c.1192A>G (p.Met398Val) rs766010409 0.00001
NM_174936.4(PCSK9):c.1475G>C (p.Ser492Thr) rs537114569 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_174936.4(PCSK9):c.812T>C (p.Ile271Thr) rs753657596 0.00001
NM_175914.5(HNF4A):c.49+13G>A rs759324522 0.00001
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp) rs1032164393 0.00001
NM_175914.5(HNF4A):c.733C>T (p.Arg245Cys) rs1290868034 0.00001
NM_176824.3(BBS7):c.277T>G (p.Phe93Val) rs750813339 0.00001
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504 0.00001
NM_181507.2(HPS5):c.131G>A (p.Arg44Gln) rs760835753 0.00001
NM_181507.2(HPS5):c.1652G>A (p.Arg551His) rs1037863397 0.00001
NM_181507.2(HPS5):c.2169A>G (p.Ile723Met) rs780480120 0.00001
NM_181523.3(PIK3R1):c.506C>T (p.Thr169Ile) rs778443805 0.00001
NM_182925.5(FLT4):c.3894-1G>A rs1164783220 0.00001
NM_182931.3(KMT2E):c.1132C>T (p.Pro378Ser) rs200903934 0.00001
NM_182961.4(SYNE1):c.17332A>G (p.Ile5778Val) rs762422242 0.00001
NM_182961.4(SYNE1):c.21199C>G (p.Leu7067Val) rs749058571 0.00001
NM_182961.4(SYNE1):c.6031C>T (p.Arg2011Cys) rs767563434 0.00001
NM_183050.4(BCKDHB):c.479T>G (p.Ile160Ser) rs398124576 0.00001
NM_194248.3(OTOF):c.2521G>A (p.Glu841Lys) rs772729658 0.00001
NM_198129.4(LAMA3):c.6407C>T (p.Thr2136Ile) rs370749309 0.00001
NM_198129.4(LAMA3):c.7627T>C (p.Tyr2543His) rs778189535 0.00001
NM_198252.3(GSN):c.601_602insT (p.Arg201fs) rs1277006645 0.00001
NM_198576.4(AGRN):c.1978C>T (p.Arg660Trp) rs534519250 0.00001
NM_198904.4(GABRG2):c.631+1251G>T rs1047885227 0.00001
NM_199242.3(UNC13D):c.2672T>C (p.Leu891Pro) rs1359661881 0.00001
NM_199242.3(UNC13D):c.2756C>T (p.Ser919Phe) rs748410297 0.00001
NM_199242.3(UNC13D):c.869C>T (p.Ser290Leu) rs202020396 0.00001
NM_201253.3(CRB1):c.1349G>A (p.Cys450Tyr) rs746597173 0.00001
NM_201253.3(CRB1):c.3997G>A (p.Glu1333Lys) rs137853136 0.00001
NM_203447.4(DOCK8):c.1823C>G (p.Pro608Arg) rs189953367 0.00001
NM_203447.4(DOCK8):c.2675G>A (p.Ser892Asn) rs1340101824 0.00001
NM_206933.4(USH2A):c.10010G>T (p.Cys3337Phe) rs770756678 0.00001
NM_206933.4(USH2A):c.10597T>C (p.Tyr3533His) rs1288596700 0.00001
NM_206933.4(USH2A):c.12448A>G (p.Thr4150Ala) rs1172628170 0.00001
NM_206933.4(USH2A):c.13279G>A (p.Gly4427Arg) rs1255592098 0.00001
NM_206933.4(USH2A):c.13547G>C (p.Gly4516Ala) rs774759345 0.00001
NM_206933.4(USH2A):c.13664C>T (p.Pro4555Leu) rs772415448 0.00001
NM_206933.4(USH2A):c.14017T>C (p.Tyr4673His) rs1040917329 0.00001
NM_206933.4(USH2A):c.15095G>A (p.Ser5032Asn) rs374144657 0.00001
NM_206933.4(USH2A):c.15143C>T (p.Ala5048Val) rs748393788 0.00001
NM_206933.4(USH2A):c.1678C>G (p.Pro560Ala) rs147509797 0.00001
NM_206933.4(USH2A):c.206G>T (p.Ser69Ile) rs377254440 0.00001
NM_206933.4(USH2A):c.2776C>T (p.Arg926Cys) rs749621457 0.00001
NM_206933.4(USH2A):c.3408T>A (p.Ser1136Arg) rs1064793287 0.00001
NM_206933.4(USH2A):c.3938A>G (p.Asn1313Ser) rs145459379 0.00001
NM_206933.4(USH2A):c.4314G>T (p.Arg1438Ser) rs776039417 0.00001
NM_206933.4(USH2A):c.4544C>T (p.Thr1515Met) rs373599651 0.00001
NM_206933.4(USH2A):c.5375G>A (p.Gly1792Glu) rs527598451 0.00001
NM_206933.4(USH2A):c.6325G>A (p.Asp2109Asn) rs759545289 0.00001
NM_206933.4(USH2A):c.6925T>G (p.Cys2309Gly) rs772407116 0.00001
NM_206933.4(USH2A):c.9259G>A (p.Val3087Ile) rs200382994 0.00001
NM_206933.4(USH2A):c.9655A>G (p.Thr3219Ala) rs776395355 0.00001
NM_206933.4(USH2A):c.9974G>A (p.Gly3325Glu) rs1378786390 0.00001
NM_207346.3(TSEN54):c.197T>C (p.Leu66Pro) rs1388222262 0.00001
NM_207361.6(FREM2):c.4221T>A (p.Asp1407Glu) rs1192686260 0.00001
NM_207361.6(FREM2):c.467G>T (p.Arg156Leu) rs759269194 0.00001
NM_207361.6(FREM2):c.6445A>G (p.Met2149Val) rs142821775 0.00001
NM_213599.3(ANO5):c.1203G>T (p.Trp401Cys) rs886042339 0.00001
NC_000001.10:g.(120529706_120539619)_(120548212_120572528)dup
NC_000001.10:g.(1455998_1458123)_(1458280_1458890)del
NC_000001.10:g.(161277215_161279628)_(161279763_?)dup
NC_000001.10:g.(161298288_161310383)_(161334542_?)dup
NC_000001.10:g.(183529409_183532329)_(183559740_?)dup
NC_000001.10:g.(193181608_193202122)_(193223946_?)del
NC_000001.10:g.(215916678_215931936)_(215940131_215953184)dup
NC_000001.10:g.(226036256_226036597)_(226050552_226053596)del
NC_000001.10:g.(228432273_228433113)_(228433390_228434228)del
NC_000001.10:g.(235856787_235860382)_(236030207_?)dup
NC_000001.10:g.(31406190_31409489)_(31418331_31422973)dup
NC_000001.10:g.(39889867_39893126)_(39952811_?)dup
NC_000001.10:g.(7309687_7527889)_(7527962_7700459)dup
NC_000001.10:g.(97548027_97564044)_(97564189_97658624)del
NC_000001.10:g.(97848018_97915614)_(97981498_98015115)dup
NC_000001.10:g.(?_115215718)_(115220663_115220953)del
NC_000001.10:g.(?_1716723)_(1749315_1756835)dup
NC_000001.10:g.(?_220087605)_(220101994_?)dup
NC_000001.10:g.(?_46654354)_(46660074_46660224)dup
NC_000002.11:g.(178545632_178562059)_(178576607_178592385)dup
NC_000002.11:g.(228193506_228194321)_(228205097_228207460)dup
NC_000002.11:g.(47607109_47612304)_(47614168_?)dup
NC_000002.11:g.(73682423_73716760)_(73762077_73777393)dup
NC_000002.11:g.(98853194_98866780)_(98872638_98887144)del
NC_000002.11:g.(?_150426150)_(150443664_150444177)dup
NC_000002.11:g.(?_169779448)_(169887834_?)dup
NC_000002.11:g.(?_172290760)_(172341563_?)dup
NC_000002.11:g.(?_241653180)_(241709124_241710387)dup
NC_000002.11:g.(?_44113362)_(44223145_?)dup
NC_000002.11:g.(?_47596321)_(47596721_47600601)del
NC_000002.11:g.(?_47596341)_(47596701_?)dup
NC_000002.11:g.(?_87011727)_(87018838_?)dup
NC_000002.11:g.(?_98703594)_(98779440_98797478)del
NC_000003.11:g.(1427482_1443116)_(1445295_?)dup
NC_000003.11:g.(158384176_158399783)_(158410362_?)dup
NC_000003.11:g.(179137294_179138676)_(179169372_?)dup
NC_000003.11:g.(25761683_25770623)_(25792755_25805556)dup
NC_000003.11:g.(370038_382476)_(436556_439909)dup
NC_000003.11:g.(37089175_37090007)_(37090509_37091976)dup
NC_000003.11:g.(81643175_81691931)_(81754765_81810525)dup
NC_000003.11:g.(?_128445025)_(128533642_?)dup
NC_000003.11:g.(?_142168076)_(142168445_142171969)del
NC_000003.11:g.(?_179113875)_(179169259_?)dup
NC_000003.11:g.(?_4402828)_(4508967_?)dup
NC_000003.11:g.(?_66119284)_(66429348_?)dup
NC_000003.11:g.(?_93698982)_(93774523_?)dup
NC_000004.11:g.(123949551_123977541)_(123977596_123978363)del
NC_000004.11:g.(151656519_151682934)_(151936650_?)dup
NC_000004.11:g.(159593643_159601618)_(159620283_159624574)dup
NC_000004.11:g.(?_120056938)_(120108945_?)dup
NC_000004.11:g.(?_1795019)_(1795771_1800980)dup
NC_000005.9:g.(126758465_126769054)_(126769202_126770378)del
NC_000005.9:g.(126781386_126783248)_(126784915_126790257)del
NC_000005.9:g.(149633110_149636135)_(149636395_149637125)del
NC_000005.9:g.(37213835_37221425)_(37249531_?)dup
NC_000005.9:g.(37231152_37238958)_(37249531_?)dup
NC_000005.9:g.(42566047_42629139)_(42629206_42688991)del
NC_000005.9:g.(52954455_52978947)_(52979169_?)dup
NC_000005.9:g.(60170511_60183266)_(60186914_60194102)dup
NC_000005.9:g.(77473261_77477330)_(77477487_77511878)dup
NC_000005.9:g.(89941909_89943314)_(89943582_89947420)del
NC_000005.9:g.(?_1201709)_(1225227_?)dup
NC_000005.9:g.(?_1253281)_(1278912_1279405)dup
NC_000005.9:g.(?_155753766)_(155771688_155935610)dup
NC_000005.9:g.(?_1801495)_(1816166_?)dup
NC_000005.9:g.(?_218337)_(257198_?)dup
NC_000005.9:g.(?_218434)_(257198_?)dup
NC_000006.11:g.(102124680_102130427)_(102134229_102247522)del
NC_000006.11:g.(10813957_10818082)_(10831111_?)dup
NC_000006.11:g.(135679326_135715913)_(135732683_135748304)del
NC_000006.11:g.(135726116_135732485)_(135818904_?)dup
NC_000006.11:g.(51915094_51917873)_(51930876_51934254)dup
NC_000006.11:g.(5261894_5368782)_(5545574_5613401)dup
NC_000006.11:g.(65707597_65767506)_(65767621_66005755)dup
NC_000006.11:g.(66063511_66094278)_(66205887_66349670)dup
NC_000006.11:g.(66115261_66200486)_(66200601_66204555)dup
NC_000006.11:g.(?_5108652)_(5261184_?)del
NC_000006.11:g.(?_70385640)_(70411846_70423536)dup
NC_000006.11:g.(?_74171459)_(74202076_74207458)dup
NC_000006.11:g.(?_74303101)_(74363716_?)dup
NC_000006.11:g.(?_80194707)_(80247148_?)dup
NC_000007.13:g.(101559506_101671377)_(101671426_101713618)dup
NC_000007.13:g.(117149197_117170952)_(117171169_117174329)dup
NC_000007.13:g.(117171169_117174329)_(117174420_117175301)dup
NC_000007.13:g.(117175466_117176601)_(117176728_117180153)dup
NC_000007.13:g.(117180401_117182069)_(117182163_117188694)dup
NC_000007.13:g.(117182163_117188694)_(117188878_117199517)dup
NC_000007.13:g.(117188878_117199517)_(117199710_117227792)dup
NC_000007.13:g.(117227888_117230406)_(117230494_117231987)dup
NC_000007.13:g.(117232712_117234983)_(117235113_117242879)dup
NC_000007.13:g.(117250724_117251634)_(117251863_117254666)dup
NC_000007.13:g.(117267825_117282491)_(117282648_117292895)dup
NC_000007.13:g.(117282648_117292895)_(117292986_117304741)dup
NC_000007.13:g.(117292986_117304741)_(117308720_?)dup
NC_000007.13:g.(117305619_117306961)_(117308720_?)dup
NC_000007.13:g.(6018328_6022454)_(6048681_?)dup
NC_000007.13:g.(6022623_6026521)_(6026546_6026958)dup
NC_000007.13:g.(?_117120016)_(117308720_?)dup
NC_000007.13:g.(?_117120078)_(117120202_117144306)dup
NC_000007.13:g.(?_151832009)_(151960216_151962122)dup
NC_000007.13:g.(?_33169151)_(33185977_33192312)dup
NC_000007.13:g.(?_6010555)_(6027252_6029430)dup
NC_000007.13:g.(?_6010555)_(6048738_?)dup
NC_000007.13:g.(?_6061877)_(6098861_?)dup
NC_000007.13:g.(?_65425670)_(65447302_?)dup
NC_000008.10:g.(100287483_100396435)_(100403933_100443764)dup
NC_000008.10:g.(143957812_143958097)_(143961237_?)dup
NC_000008.10:g.(48730123_48731962)_(48732072_48733279)del
NC_000008.10:g.(48736558_48739216)_(48872744_?)dup
NC_000008.10:g.(68115487_68116914)_(68130374_68131665)del
NC_000008.10:g.(?_103216728)_(103251347_?)dup
NC_000008.10:g.(?_143991974)_(143995835_143996120)dup
NC_000008.10:g.(?_48872762)_(48890721_?)dup
NC_000008.10:g.(?_74888376)_(74888727_74890990)dup
NC_000008.10:g.(?_99130067)_(99146888_99148709)dup
NC_000009.11:g.(108510472_108536145)_(108538893_?)del
NC_000009.11:g.(133884975_133901671)_(133928353_133932315)del
NC_000009.11:g.(139327732_139328500)_(139334275_?)dup
NC_000009.11:g.(215030_271626)_(340322_368017)dup
NC_000009.11:g.(340322_368017)_(465260_?)dup
NC_000009.11:g.(36249395_36276890)_(36277054_?)dup
NC_000009.11:g.(407070_414781)_(465260_?)dup
NC_000009.11:g.(4985631_4985939)_(5090912_5123003)dup
NC_000009.11:g.(504755_676889)_(677010_710803)del
NC_000009.11:g.(5090912_5123003)_(5129949_?)dup
NC_000009.11:g.(6565430_6587140)_(6645693_?)dup
NC_000009.11:g.(94060359_94087599)_(94087687_94118164)del
NC_000009.11:g.(?_117164359)_(117267737_?)dup
NC_000009.11:g.(?_130697373)_(130700764_?)dup
NC_000009.11:g.(?_214864)_(399260_404917)dup
NC_000009.11:g.(?_4490467)_(4587470_?)dup
NC_000009.12:g.35658023_35658024delinsTT rs2131809702
NC_000010.10:g.(29782321_29783842)_(29784111_29788044)del
NC_000010.10:g.(50714059_50732078)_(50747170_?)dup
NC_000010.10:g.(56138703_56287571)_(56287638_56423931)dup
NC_000010.10:g.(70196999_70202673)_(70231731_?)dup
NC_000010.10:g.(75585106_75597225)_(75634350_?)dup
NC_000010.10:g.(97397194_97402748)_(97416568_?)dup
NC_000010.10:g.(?_124221068)_(124274424_?)dup
NC_000010.10:g.(?_13685705)_(13696513_13698635)dup
NC_000010.10:g.(?_50822082)_(50835832_50854550)dup
NC_000010.10:g.(?_70173820)_(70231731_?)dup
NC_000010.10:g.(?_88635623)_(88683477_?)dup
NC_000010.10:g.(?_90973325)_(91011797_?)dup
NC_000011.9:g.(108114846_108115514)_(108239827_?)dup
NC_000011.9:g.(108225602_108235808)_(108236198_?)dup
NC_000011.9:g.(108225602_108235808)_(108239827_?)dup
NC_000011.9:g.(108225602_108235808)_(108239830_?)dup
NC_000011.9:g.(117206397_117209281)_(117222705_117232550)dup
NC_000011.9:g.(128628222_128638012)_(128651919_128675260)dup
NC_000011.9:g.(34938363_34952950)_(34953032_34969052)dup
NC_000011.9:g.(63426725_63438761)_(63439203_?)del
NC_000011.9:g.(68575107_68579904)_(68609400_?)dup
NC_000011.9:g.(70785658_70803467)_(70858385_70935742)dup
NC_000011.9:g.(?_107992257)_(108018896_?)dup
NC_000011.9:g.(?_18300216)_(18307007_18308137)del
NC_000011.9:g.(?_85339636)_(85347581_?)dup
NC_000011.9:g.(?_95566043)_(95657272_?)dup
NC_000012.11:g.(122281739_122284767)_(122287697_122292608)del
NC_000012.11:g.(122745995_122748118)_(122751042_?)dup
NC_000012.11:g.(6184718_6204625)_(6233837_?)dup
NC_000012.11:g.(8998819_9000144)_(9007428_9008104)del
NC_000012.11:g.(95365397_95387945)_(95397474_?)dup
NC_000012.11:g.(?_120875892)_(120878546_?)dup
NC_000012.11:g.(?_120875915)_(120878534_?)dup
NC_000012.11:g.(?_124105569)_(124118324_?)dup
NC_000012.11:g.(?_124155659)_(124172725_124175079)dup
NC_000012.11:g.(?_49688929)_(49691510_49691740)dup
NC_000013.10:g.(101077986_101101505)_(101101560_101167680)dup
NC_000013.10:g.(103525694_103527656)_(103528352_?)del
NC_000013.10:g.(32937671_32944538)_(32973810_?)dup
NC_000013.10:g.(60385058_60407240)_(60590280_60616823)del
NC_000013.10:g.(?_20796100)_(20797635_20803718)del
NC_000013.10:g.(?_23755059)_(23778029_23808749)dup
NC_000013.10:g.(?_32889616)_(32929426_32930564)dup
NC_000013.10:g.(?_32889616)_(32973810_?)dup
NC_000014.8:g.(21794333_21795781)_(21798547_21802763)del
NC_000014.8:g.(32315798_32319324)_(32319408_32328323)del
NC_000014.8:g.(68251995_68252574)_(68283307_?)dup
NC_000014.8:g.(?_102829248)_(102968819_?)dup
NC_000015.9:g.(23062320_23086233)_(23086437_?)del
NC_000015.9:g.(28443916_28446601)_(28447761_28451385)dup
NC_000015.9:g.(32404101_32446107)_(32462385_?)dup
NC_000015.9:g.(44865019_44865744)_(44867240_44876011)dup
NC_000015.9:g.(62211649_62212265)_(62352665_?)dup
NC_000015.9:g.(76518271_76523673)_(76523740_76566752)del
NC_000015.9:g.(?_100940599)_(101084926_?)dup
NC_000015.9:g.(?_31196075)_(31229463_31233768)dup
NC_000015.9:g.(?_41679550)_(41694695_?)del
NC_000015.9:g.(?_42651697)_(42704516_?)dup
NC_000016.9:g.(23614991_23619184)_(23625413_23632682)dup
NC_000016.9:g.(46940888_46943595)_(46965210_?)dup
NC_000016.9:g.(47703329_47722951)_(47735435_?)dup
NC_000016.9:g.(68849663_68853182)_(68863701_68867192)dup
NC_000016.9:g.(89180896_89187208)_(89212458_89220497)dup
NC_000016.9:g.(89818631_89824984)_(89883066_?)dup
NC_000016.9:g.(89877480_89880927)_(89883066_?)dup
NC_000016.9:g.(?_135799)_(143324_148142)dup
NC_000016.9:g.(?_1560427)_(1576798_1607935)dup
NC_000016.9:g.(?_23532074)_(23568672_?)dup
NC_000016.9:g.(?_28853731)_(28857670_?)del
NC_000016.9:g.(?_30194730)_(30200398_?)dup
NC_000016.9:g.(?_30759745)_(30772498_?)dup
NC_000016.9:g.(?_3704691)_(3708097_?)del
NC_000016.9:g.(?_46723570)_(46732307_?)dup
NC_000016.9:g.(?_46918273)_(46965202_?)dup
NC_000016.9:g.(?_70286296)_(70296428_70298860)dup
NC_000016.9:g.(?_730409)_(732802_?)dup
NC_000016.9:g.(?_88880141)_(88909238_88923165)dup
NC_000016.9:g.(?_88880141)_(88923375_?)dup
NC_000016.9:g.(?_8891669)_(8895768_8898623)dup
NC_000016.9:g.(?_8891669)_(8898701_8900172)dup
NC_000016.9:g.(?_8891669)_(8905571_8906847)dup
NC_000016.9:g.(?_89160216)_(89187322_89199543)dup
NC_000017.10:g.(15164079_15168470)_(15168675_?)del
NC_000017.10:g.(1665408_1670196)_(1680869_?)dup
NC_000017.10:g.(18927697_18939270)_(18950337_?)del
NC_000017.10:g.(29687722_29701030)_(29704696_?)dup
NC_000017.10:g.(33426810_33427615)_(33434467_33445519)dup
NC_000017.10:g.(35567405_35578644)_(35583374_35591889)dup
NC_000017.10:g.(41199721_41201137)_(41276133_41277287)dup
NC_000017.10:g.(41199721_41201137)_(41277382_?)dup
NC_000017.10:g.(41199721_41201137)_(41277501_?)dup
NC_000017.10:g.(41203135_41209068)_(41276133_41277287)dup
NC_000017.10:g.(41203135_41209068)_(41277501_?)dup
NC_000017.10:g.(41258551_41267742)_(41277501_?)dup
NC_000017.10:g.(41267797_41276033)_(41277382_?)dup
NC_000017.10:g.(602621_613772)_(618097_?)dup
NC_000017.10:g.(75398786_75478225)_(75496676_?)dup
NC_000017.10:g.(?_10293638)_(10298759_10299646)del
NC_000017.10:g.(?_3379295)_(3402701_?)dup
NC_000017.10:g.(?_411907)_(440417_455111)dup
NC_000017.10:g.(?_66508519)_(66529573_?)dup
NC_000017.10:g.(?_78075324)_(78093682_?)dup
NC_000017.10:g.41246248_(41276133_41277287)dup
NC_000017.10:g.[(59861786_59870957)_(59886119_59924461)dup;(?_59870952)_(59886124_?)dup]
NC_000017.11:g.(?_43044294)_(43124116_43125270)dup
NC_000018.9:g.(44181431_44184068)_(44198254_44219578)dup
NC_000018.9:g.(67742778_67753848)_(67753921_67755224)del
NC_000018.9:g.(?_25530926)_(25532324_25543320)dup
NC_000019.9:g.(12761037_12762966)_(12763275_12766507)del
NC_000019.9:g.(17679523_17683291)_(17693967_?)del
NC_000019.9:g.(44015719_44030352)_(44031409_?)dup
NC_000019.9:g.(50204113_50204573)_(50204892_50207966)del
NC_000019.9:g.(?_1397025)_1397484del
NC_000019.9:g.(?_15160290)_(15164770_15165968)del
NC_000019.9:g.(?_17448325)_(17450409_17451852)dup
NC_000019.9:g.(?_17448325)_(17452132_17452286)dup
NC_000019.9:g.(?_17448361)_(17450409_17451852)dup
NC_000019.9:g.(?_29696226)_(29704059_?)del
NC_000019.9:g.(?_30189943)_(30205968_?)del
NC_000019.9:g.(?_7112275)_(7123001_7125293)dup
NC_000020.10:g.(?_3190005)_(3204517_?)dup
NC_000020.10:g.(?_3869569)_(3893282_3897573)dup
NC_000021.8:g.(?_46825079)_(46933635_?)dup
NC_000021.8:g.(?_46932478)_(46962355_?)dup
NC_000022.10:g.(29083975_29085122)_(29085204_29090019)del
NC_000022.10:g.(29083975_29085122)_(29085204_29090019)dup
NC_000022.10:g.(38122511_38129304)_(38168772_38169789)dup
NC_000022.10:g.(50500087_50502462)_(50524359_?)dup
NC_000022.10:g.(?_18074901)_(18111589_?)del
NC_000022.10:g.(?_29083730)_(29085204_29090019)dup
NC_000022.10:g.(?_29083730)_(29121356_29130390)dup
NC_000022.10:g.(?_36677322)_(36712715_36714251)dup
NC_000022.10:g.(?_36677325)_(36712715_36714251)dup
NC_000022.10:g.(?_36677325)_(36714371_36715584)dup
NC_000022.10:g.(?_36863092)_(36877688_?)dup
NC_000023.10:g.(100656798_100658798)_(100658974_100662697)dup
NC_000023.10:g.(154754294_154774756)_(154774939_154842452)del
NC_000023.10:g.(31144791_31152218)_(31152312_31164407)dup
NC_000023.10:g.(31165636_31187559)_(31187719_31190464)dup
NC_000023.10:g.(31165636_31187559)_(31196088_31196785)dup
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)del
NC_000023.10:g.(31191722_31196048)_(31196088_31196785)dup
NC_000023.10:g.(31201022_31222077)_(31222236_31224698)dup
NC_000023.10:g.(31241239_31279071)_(31792310_31838091)dup
NC_000023.10:g.(31279134_31341714)_(31645980_31676106)dup
NC_000023.10:g.(31366752_31462597)_(31525571_31645789)dup
NC_000023.10:g.(31366752_31462597)_(31986632_32235032)dup
NC_000023.10:g.(31676262_31697491)_(32305819_32328198)dup
NC_000023.10:g.(31747866_31792076)_(31986632_32235032)dup
NC_000023.10:g.(31792310_31838091)_(32490427_32503035)dup
NC_000023.10:g.(32305819_32328198)_(32328394_32360216)dup
NC_000023.10:g.(32328394_32360216)_(32360400_32361250)dup
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)dup
NC_000023.10:g.(32366646_32380904)_(32430031_32456357)dup
NC_000023.10:g.(32381076_32382698)_(32382828_32383136)dup
NC_000023.10:g.(32382828_32383136)_(32383317_32398626)dup
NC_000023.10:g.(32383317_32398626)_(32398798_32404426)dup
NC_000023.10:g.(32407792_32408187)_(32408299_32429868)dup
NC_000023.10:g.(32408299_32429868)_(32563452_32583818)dup
NC_000023.10:g.(32456508_32459296)_(32459432_32466572)dup
NC_000023.10:g.(32459432_32466572)_(32663270_32715986)dup
NC_000023.10:g.(32466756_32472778)_(32472950_32481555)dup
NC_000023.10:g.(32563452_32583818)_(32613994_32632419)dup
NC_000023.10:g.(32613994_32632419)_(32663270_32715986)dup
NC_000023.10:g.(32867938_33038255)_(33229674_?)dup
NC_000023.10:g.(33038318_33229398)_(33229674_?)dup
NC_000023.10:g.(595562_601555)_(607559_?)dup
NC_000023.10:g.(?_135229558)_(135293519_?)dup
NC_000023.10:g.(?_14861528)_(14891192_?)dup
NC_000023.10:g.(?_151999510)_(152037908_?)dup
NC_000023.10:g.(?_20168028)_(20285028_?)dup
NC_000023.10:g.(?_31137344)_(31152312_31164407)dup
NC_000023.10:g.(?_31137344)_(31191722_31196048)dup
NC_000023.10:g.(?_31137344)_(31241239_31279071)dup
NC_000023.10:g.(?_31137344)_(31279134_31341714)dup
NC_000023.10:g.(?_31137344)_(31341776_31366672)dup
NC_000023.10:g.(?_31137344)_(31497221_31514904)dup
NC_000023.10:g.(?_31137344)_(31645980_31676106)dup
NC_000023.10:g.(?_37639269)_(37672715_?)dup
NC_000023.10:g.(?_46696346)_(46741794_?)dup
NC_000023.10:g.(?_5808066)_(5827281_5947320)dup
NC_000023.10:g.(?_585078)_(595562_601555)dup
NC_000023.10:g.(?_585078)_(607559_?)dup
NC_000023.10:g.(?_73641327)_(73753765_?)dup
NC_000023.10:g.(?_76760355)_(76777867_76778729)dup
NC_000023.10:g.(?_77081860)_(77131095_77150805)dup
NC_000023.11:g.(?_31119227)_(31348635_31444480)dup
NM_000016.6(ACADM):c.1205G>A (p.Gly402Asp)
NM_000016.6(ACADM):c.1205G>T (p.Gly402Val) rs1553127382
NM_000016.6(ACADM):c.1207A>G (p.Thr403Ala) rs1462472677
NM_000016.6(ACADM):c.388-12_388-10del rs398123076
NM_000016.6(ACADM):c.526G>T (p.Ala176Ser) rs200754053
NM_000016.6(ACADM):c.617G>T (p.Arg206Leu) rs200724875
NM_000016.6(ACADM):c.631C>T (p.Pro211Ser) rs2100408048
NM_000016.6(ACADM):c.653C>A (p.Ala218Asp)
NM_000016.6(ACADM):c.683C>A (p.Thr228Asn) rs149678400
NM_000016.6(ACADM):c.683C>T (p.Thr228Ile) rs149678400
NM_000016.6(ACADM):c.708+6G>T rs958629659
NM_000016.6(ACADM):c.86G>T (p.Arg29Leu) rs769906625
NM_000016.6(ACADM):c.905A>G (p.Tyr302Cys)
NM_000016.6(ACADM):c.[351A>C;362C>T]
NM_000017.4(ACADS):c.1195C>T (p.Arg399Trp) rs375931905
NM_000017.4(ACADS):c.508G>A (p.Ala170Thr) rs765604622
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1183-7A>G rs750441118
NM_000018.4(ACADVL):c.215C>T (p.Ser72Phe) rs1161495077
NM_000018.4(ACADVL):c.513C>G (p.Asp171Glu) rs2071227581
NM_000018.4(ACADVL):c.535G>T (p.Gly179Trp) rs796051909
NM_000018.4(ACADVL):c.736A>G (p.Ser246Gly) rs1555528320
NM_000019.4(ACAT1):c.401T>C (p.Met134Thr)
NM_000019.4(ACAT1):c.613A>C (p.Asn205His) rs748135542
NM_000019.4(ACAT1):c.730+6G>C
NM_000021.4(PSEN1):c.1132G>A (p.Gly378Arg)
NM_000021.4(PSEN1):c.485T>C (p.Ile162Thr)
NM_000021.4(PSEN1):c.485T>G (p.Ile162Ser) rs1898533739
NM_000021.4(PSEN1):c.869-6C>T
NM_000021.4(PSEN1):c.95A>G (p.Asn32Ser)
NM_000022.4(ADA):c.1079-1G>A
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe) rs773161308
NM_000023.4(SGCA):c.279_284del (p.Thr94_Pro95del) rs1555568383
NM_000023.4(SGCA):c.304G>A (p.Val102Ile) rs1266940329
NM_000023.4(SGCA):c.541C>T (p.Arg181Cys) rs574376340
NM_000023.4(SGCA):c.614C>T (p.Pro205Leu) rs757481230
NM_000023.4(SGCA):c.730T>A (p.Trp244Arg)
NM_000027.4(AGA):c.1007del (p.Asn336fs)
NM_000027.4(AGA):c.392C>T (p.Ser131Leu)
NM_000027.4(AGA):c.755G>A (p.Gly252Glu) rs386833433
NM_000030.2:c.165+15_166-18dup
NM_000030.3(AGXT):c.1168_1169del (p.Lys390fs)
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
NM_000030.3(AGXT):c.283_285dup (p.Glu95dup) rs180177190
NM_000030.3(AGXT):c.307G>T (p.Gly103Trp)
NM_000030.3(AGXT):c.385G>A (p.Asp129Asn) rs180177212
NM_000030.3(AGXT):c.385G>C (p.Asp129His) rs180177212
NM_000030.3(AGXT):c.806T>C (p.Leu269Pro) rs180177271
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
NM_000033.4(ABCD1):c.314C>T (p.Thr105Ile) rs2148388980
NM_000033.4(ABCD1):c.347G>A (p.Gly116Glu) rs2091705857
NM_000033.4(ABCD1):c.688C>T (p.Leu230Phe) rs2148389639
NM_000033.4(ABCD1):c.712G>A (p.Ala238Thr)
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu) rs139442303
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
NM_000037.4(ANK1):c.4642G>C (p.Asp1548His)
NM_000038.6(APC):c.1115A>G (p.Asn372Ser) rs1580529465
NM_000038.6(APC):c.1120C>T (p.Arg374Trp) rs947634162
NM_000038.6(APC):c.1319C>G (p.Ala440Gly) rs1561545834
NM_000038.6(APC):c.1321C>G (p.Pro441Ala) rs1444245614
NM_000038.6(APC):c.1412G>T (p.Gly471Val) rs1191271600
NM_000038.6(APC):c.1440A>C (p.Gln480His) rs863224537
NM_000038.6(APC):c.1440A>T (p.Gln480His) rs863224537
NM_000038.6(APC):c.1446C>G (p.Asp482Glu) rs1763766928
NM_000038.6(APC):c.146A>C (p.Lys49Thr) rs587781587
NM_000038.6(APC):c.1481G>A (p.Ser494Asn) rs1554081691
NM_000038.6(APC):c.1505G>T (p.Gly502Val)
NM_000038.6(APC):c.1579A>G (p.Arg527Gly) rs751120046
NM_000038.6(APC):c.1626+6A>G rs1197354854
NM_000038.6(APC):c.1912A>G (p.Ile638Val) rs75117039
NM_000038.6(APC):c.1977C>A (p.Asn659Lys) rs1561574172
NM_000038.6(APC):c.2074C>G (p.Pro692Ala)
NM_000038.6(APC):c.211C>A (p.Arg71Ser) rs767741687
NM_000038.6(APC):c.2188A>G (p.Met730Val) rs1580619095
NM_000038.6(APC):c.220G>C (p.Glu74Gln) rs876658941
NM_000038.6(APC):c.2383C>A (p.Leu795Ile) rs1442780982
NM_000038.6(APC):c.2419GAT[1] (p.Asp808del) rs587781469
NM_000038.6(APC):c.2434G>C (p.Asp812His) rs761178697
NM_000038.6(APC):c.2449G>A (p.Gly817Ser) rs1169702353
NM_000038.6(APC):c.2483C>T (p.Thr828Ile) rs786203696
NM_000038.6(APC):c.2503T>C (p.Ser835Pro) rs748302469
NM_000038.6(APC):c.250G>A (p.Gly84Arg)
NM_000038.6(APC):c.2552G>A (p.Ser851Asn) rs1554084260
NM_000038.6(APC):c.2593C>G (p.Pro865Ala) rs192620988
NM_000038.6(APC):c.2707G>A (p.Asp903Asn) rs587782610
NM_000038.6(APC):c.2840G>T (p.Cys947Phe) rs997271472
NM_000038.6(APC):c.2870A>C (p.Lys957Thr) rs777881096
NM_000038.6(APC):c.2923A>G (p.Lys975Glu) rs780597635
NM_000038.6(APC):c.3125G>C (p.Ser1042Thr) rs786203919
NM_000038.6(APC):c.3425A>G (p.Asn1142Ser) rs138410865
NM_000038.6(APC):c.3445GAA[2] (p.Glu1151del) rs761327787
NM_000038.6(APC):c.3469G>C (p.Glu1157Gln) rs1554085038
NM_000038.6(APC):c.3535T>C (p.Tyr1179His) rs751249843
NM_000038.6(APC):c.358A>G (p.Arg120Gly) rs876659470
NM_000038.6(APC):c.3607G>C (p.Gly1203Arg) rs1057518472
NM_000038.6(APC):c.3837_3845dup (p.1277_1279LSS[3]) rs1561587936
NM_000038.6(APC):c.4082C>T (p.Pro1361Leu) rs1060503264
NM_000038.6(APC):c.4088A>G (p.Lys1363Arg) rs373607243
NM_000038.6(APC):c.4091GTG[1] (p.Gly1365del) rs1580643938
NM_000038.6(APC):c.4110A>T (p.Lys1370Asn) rs876660867
NM_000038.6(APC):c.4147A>G (p.Met1383Val) rs1064793836
NM_000038.6(APC):c.420G>C (p.Glu140Asp) rs202161017
NM_000038.6(APC):c.4240G>C (p.Val1414Leu) rs755300914
NM_000038.6(APC):c.4279C>G (p.Pro1427Ala) rs876658499
NM_000038.6(APC):c.4349G>A (p.Arg1450Gln) rs587782678
NM_000038.6(APC):c.437C>T (p.Ala146Val) rs1305794169
NM_000038.6(APC):c.4462T>G (p.Leu1488Val) rs765730576
NM_000038.6(APC):c.4562A>G (p.Glu1521Gly) rs1765709676
NM_000038.6(APC):c.4692A>C (p.Leu1564Phe) rs1060503364
NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) rs138367627
NM_000038.6(APC):c.4765C>A (p.Arg1589Ser) rs72541813
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.4813G>C (p.Val1605Leu) rs1554086219
NM_000038.6(APC):c.4865A>G (p.Asn1622Ser) rs2149925864
NM_000038.6(APC):c.4879C>A (p.Gln1627Lys) rs1554086263
NM_000038.6(APC):c.4973G>C (p.Ser1658Thr) rs1561596738
NM_000038.6(APC):c.5020G>A (p.Gly1674Arg) rs899555020
NM_000038.6(APC):c.5026_5028del (p.Arg1676del) rs768369050
NM_000038.6(APC):c.506T>C (p.Ile169Thr) rs1757567981
NM_000038.6(APC):c.5140G>C (p.Asp1714His) rs148275069
NM_000038.6(APC):c.5201A>C (p.Lys1734Thr) rs1204161988
NM_000038.6(APC):c.5348C>T (p.Thr1783Ile) rs878853456
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del) rs587782002
NM_000038.6(APC):c.5465T>G (p.Val1822Gly) rs459552
NM_000038.6(APC):c.5486A>G (p.Asn1829Ser) rs767612847
NM_000038.6(APC):c.5501_5506del (p.Val1834_Arg1835del) rs587778029
NM_000038.6(APC):c.5527C>A (p.Pro1843Thr) rs1461006300
NM_000038.6(APC):c.5614G>A (p.Val1872Ile) rs1580661875
NM_000038.6(APC):c.5650G>A (p.Ala1884Thr) rs1580662124
NM_000038.6(APC):c.5688C>G (p.Ser1896Arg) rs1561601778
NM_000038.6(APC):c.5738T>C (p.Ile1913Thr) rs1413246437
NM_000038.6(APC):c.5778A>G (p.Ile1926Met) rs1244090932
NM_000038.6(APC):c.5821C>A (p.Pro1941Thr)
NM_000038.6(APC):c.5879_5880delinsTA (p.Pro1960Leu) rs587779801
NM_000038.6(APC):c.5894A>G (p.His1965Arg) rs773776516
NM_000038.6(APC):c.5912C>A (p.Ser1971Tyr) rs754691867
NM_000038.6(APC):c.5914C>T (p.Leu1972Phe) rs1222940653
NM_000038.6(APC):c.5998A>G (p.Ser2000Gly) rs587782271
NM_000038.6(APC):c.6001A>G (p.Lys2001Glu) rs1580666566
NM_000038.6(APC):c.6047A>T (p.Asp2016Val) rs1554087168
NM_000038.6(APC):c.6248T>C (p.Ile2083Thr) rs758715972
NM_000038.6(APC):c.626A>G (p.Asp209Gly) rs1554072636
NM_000038.6(APC):c.646-9T>C rs1060504878
NM_000038.6(APC):c.6565A>C (p.Lys2189Gln) rs1554087525
NM_000038.6(APC):c.6688A>G (p.Met2230Val) rs751547785
NM_000038.6(APC):c.6746A>G (p.Lys2249Arg) rs1766291767
NM_000038.6(APC):c.6767C>A (p.Pro2256Gln) rs1766296574
NM_000038.6(APC):c.6812C>G (p.Pro2271Arg) rs1561610413
NM_000038.6(APC):c.6853G>A (p.Val2285Ile) rs1554087794
NM_000038.6(APC):c.6875T>G (p.Ile2292Arg) rs762705847
NM_000038.6(APC):c.6926C>T (p.Pro2309Leu) rs1060503329
NM_000038.6(APC):c.6944A>G (p.Gln2315Arg) rs1060503273
NM_000038.6(APC):c.6966G>C (p.Gln2322His) rs786204171
NM_000038.6(APC):c.6970C>G (p.Pro2324Ala) rs770250821
NM_000038.6(APC):c.713A>G (p.Gln238Arg) rs1759740429
NM_000038.6(APC):c.7211T>A (p.Met2404Lys) rs864622246
NM_000038.6(APC):c.7303C>G (p.Pro2435Ala) rs1114167590
NM_000038.6(APC):c.7306G>T (p.Val2436Leu) rs1029102261
NM_000038.6(APC):c.7334A>G (p.Lys2445Arg) rs1465349688
NM_000038.6(APC):c.7400C>T (p.Pro2467Leu) rs758713824
NM_000038.6(APC):c.7598C>G (p.Ser2533Cys) rs1766520094
NM_000038.6(APC):c.7603A>G (p.Ser2535Gly) rs1403987270
NM_000038.6(APC):c.7612A>G (p.Arg2538Gly) rs1766523945
NM_000038.6(APC):c.7619C>A (p.Pro2540Gln)
NM_000038.6(APC):c.7803T>G (p.Ser2601Arg) rs2149994136
NM_000038.6(APC):c.7858T>A (p.Phe2620Ile) rs587781816
NM_000038.6(APC):c.8006C>G (p.Pro2669Arg) rs1335624903
NM_000038.6(APC):c.8138T>C (p.Met2713Thr) rs1479889029
NM_000038.6(APC):c.813G>A (p.Met271Ile) rs1064793903
NM_000038.6(APC):c.8146G>T (p.Val2716Leu) rs587778044
NM_000038.6(APC):c.8203G>C (p.Gly2735Arg) rs376392084
NM_000038.6(APC):c.8306A>G (p.Lys2769Arg) rs878853475
NM_000038.6(APC):c.8321G>C (p.Ser2774Thr) rs863224553
NM_000038.6(APC):c.835G>T (p.Gly279Cys) rs1554079129
NM_000038.6(APC):c.8368C>G (p.Pro2790Ala) rs1580692838
NM_000038.6(APC):c.8440A>G (p.Lys2814Glu) rs756826512
NM_000038.6(APC):c.8473T>C (p.Ser2825Pro) rs1766756689
NM_000038.6(APC):c.8492C>G (p.Pro2831Arg) rs773513581
NM_000038.6(APC):c.933+7G>A rs369087912
NM_000039.3(APOA1):c.*11_*15del
NM_000039.3(APOA1):c.11C>T (p.Ala4Val) rs1265273561
NM_000039.3(APOA1):c.283T>C (p.Phe95Leu) rs2134231444
NM_000039.3(APOA1):c.388AAG[1] (p.Lys131del) rs532489785
NM_000039.3(APOA1):c.752T>A (p.Val251Asp) rs760566805
NM_000040.3(APOC3):c.271G>A (p.Val91Ile)
NM_000040.3(APOC3):c.56-15C>A
NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr)
NM_000046.5(ARSB):c.1032C>A (p.Asn344Lys)
NM_000046.5(ARSB):c.1177C>T (p.His393Tyr)
NM_000046.5(ARSB):c.1595G>A (p.Trp532Ter)
NM_000046.5(ARSB):c.160G>C (p.Asp54His)
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn) rs1236509896
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln) rs397514441
NM_000046.5(ARSB):c.274A>G (p.Thr92Ala)
NM_000046.5(ARSB):c.286A>G (p.Ser96Gly)
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.675C>A (p.Asn225Lys)
NM_000047.3(ARSL):c.1156G>T (p.Gly386Trp) rs2147349610
NM_000047.3(ARSL):c.1672C>A (p.Gln558Lys) rs2089175161
NM_000048.4(ASL):c.35G>T (p.Arg12Leu)
NM_000048.4(ASL):c.434A>G (p.Asp145Gly)
NM_000048.4(ASL):c.687C>G (p.Ser229Arg)
NM_000048.4(ASL):c.767T>C (p.Met256Thr)
NM_000049.4(ASPA):c.341A>C (p.Asp114Ala) rs2073632657
NM_000049.4(ASPA):c.478C>T (p.Pro160Ser) rs1342547785
NM_000049.4(ASPA):c.65G>A (p.Gly22Glu) rs1256380639
NM_000049.4(ASPA):c.731A>T (p.His244Leu)
NM_000049.4(ASPA):c.902T>C (p.Leu301Pro)
NM_000051.4(ATM):c.100A>T (p.Ile34Phe) rs1555054094
NM_000051.4(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys) rs786203855
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn) rs876658833
NM_000051.4(ATM):c.1203G>C (p.Gln401His) rs1214283617
NM_000051.4(ATM):c.1235+4_1235+5del rs770033355
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg) rs546621356
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala) rs1324524747
NM_000051.4(ATM):c.137A>C (p.His46Pro) rs1591447177
NM_000051.4(ATM):c.1461T>G (p.Ile487Met) rs2080108393
NM_000051.4(ATM):c.14T>G (p.Leu5Arg)
NM_000051.4(ATM):c.1555G>A (p.Val519Ile) rs758056561
NM_000051.4(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.4(ATM):c.1609C>T (p.Pro537Ser) rs1165590160
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala) rs878853486
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg) rs2135340121
NM_000051.4(ATM):c.1670T>G (p.Met557Arg) rs786202770
NM_000051.4(ATM):c.1673G>T (p.Gly558Val) rs1064795257
NM_000051.4(ATM):c.1689G>C (p.Met563Ile) rs786202469
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr) rs1565385720
NM_000051.4(ATM):c.172G>C (p.Asp58His) rs876660661
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly) rs2080177696
NM_000051.4(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.4(ATM):c.1915G>C (p.Asp639His) rs1591533828
NM_000051.4(ATM):c.1991C>A (p.Thr664Asn) rs1231343218
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn) rs2080308052
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr) rs1485409783
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile) rs1335638362
NM_000051.4(ATM):c.2124+5G>A rs1565390942
NM_000051.4(ATM):c.2125A>G (p.Ile709Val) rs864622259
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser) rs887317346
NM_000051.4(ATM):c.2337G>A (p.Met779Ile) rs1227866298
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn) rs1555075809
NM_000051.4(ATM):c.2377-7A>G rs2080691600
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2404T>C (p.Phe802Leu) rs2080695065
NM_000051.4(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.4(ATM):c.2450A>T (p.Asp817Val) rs587779821
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln) rs1246807453
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.4(ATM):c.251C>T (p.Ala84Val) rs587781937
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2557T>C (p.Ser853Pro) rs876658913
NM_000051.4(ATM):c.2578G>C (p.Asp860His) rs587779825
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr) rs1400094698
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr) rs775371838
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr) rs762078586
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile) rs762078586
NM_000051.4(ATM):c.2838+9C>T rs370160823
NM_000051.4(ATM):c.289A>G (p.Ile97Val) rs1565347206
NM_000051.4(ATM):c.2922-7dup rs932219783
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu) rs772327699
NM_000051.4(ATM):c.2987A>G (p.His996Arg) rs876660034
NM_000051.4(ATM):c.3078-16A>C
NM_000051.4(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys) rs1064796080
NM_000051.4(ATM):c.3205C>A (p.Pro1069Thr) rs751714261
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile) rs587780620
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly) rs1565441399
NM_000051.4(ATM):c.3530G>A (p.Cys1177Tyr) rs587782470
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp) rs12786957
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val) rs1555092445
NM_000051.4(ATM):c.3689A>T (p.Asn1230Ile) rs587782195
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys) rs759673348
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser) rs786202897
NM_000051.4(ATM):c.3746+5G>C
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr) rs1308232635
NM_000051.4(ATM):c.3832G>C (p.Asp1278His) rs730881365
NM_000051.4(ATM):c.3939G>C (p.Glu1313Asp) rs2082386564
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.398A>T (p.Asn133Ile) rs730881330
NM_000051.4(ATM):c.3993+10C>T rs587782262
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.4085G>T (p.Ser1362Ile) rs923836140
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.4(ATM):c.4236+9A>G rs1591661022
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn) rs1337392659
NM_000051.4(ATM):c.4291A>C (p.Asn1431His) rs748144169
NM_000051.4(ATM):c.4304A>G (p.Lys1435Arg) rs769980220
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser) rs1555097507
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr) rs587782126
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg) rs1451928082
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly) rs730881392
NM_000051.4(ATM):c.4420C>A (p.His1474Asn) rs587779840
NM_000051.4(ATM):c.4426A>G (p.Ile1476Val) rs1565457035
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu) rs760542469
NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr) rs1565461414
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del) rs768183241
NM_000051.4(ATM):c.4727T>C (p.Ile1576Thr) rs2082922133
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro) rs786203017
NM_000051.4(ATM):c.489G>T (p.Gln163His) rs1057523087
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr) rs55843558
NM_000051.4(ATM):c.4943T>C (p.Val1648Ala) rs997081415
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val) rs992234584
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala) rs1179068103
NM_000051.4(ATM):c.5197G>C (p.Ala1733Pro)
NM_000051.4(ATM):c.523T>G (p.Tyr175Asp) rs2079697425
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile) rs1064794192
NM_000051.4(ATM):c.533C>T (p.Pro178Leu) rs1591499842
NM_000051.4(ATM):c.5372A>G (p.Asp1791Gly) rs367987632
NM_000051.4(ATM):c.5402A>C (p.Asn1801Thr) rs1555106445
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser) rs1555106445
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.4(ATM):c.5608T>C (p.Phe1870Leu)
NM_000051.4(ATM):c.5675-7_5675-4del rs1189695629
NM_000051.4(ATM):c.5749A>G (p.Arg1917Gly) rs2083822627
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr) rs730881377
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.4(ATM):c.6086C>G (p.Pro2029Arg) rs863224575
NM_000051.4(ATM):c.6095+4A>G rs1555113632
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val) rs1299506506
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6263A>G (p.Asn2088Ser) rs2084783116
NM_000051.4(ATM):c.6304G>C (p.Ala2102Pro) rs1565503340
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.4(ATM):c.633C>G (p.Asp211Glu) rs1060501634
NM_000051.4(ATM):c.6437G>A (p.Ser2146Asn) rs56815840
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile) rs730881382
NM_000051.4(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.4(ATM):c.6452G>C (p.Arg2151Thr) rs2136222746
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6718G>C (p.Asp2240His) rs587782478
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser) rs786202583
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6807+8del rs1555119385
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr) rs1591134072
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.4(ATM):c.695T>C (p.Ile232Thr) rs786203502
NM_000051.4(ATM):c.6975+4T>G rs876660240
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.4(ATM):c.703G>A (p.Ala235Thr) rs76379269
NM_000051.4(ATM):c.7049T>C (p.Leu2350Ser) rs2085820749
NM_000051.4(ATM):c.7128T>G (p.Ser2376Arg) rs2136412428
NM_000051.4(ATM):c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu) rs2136415518
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr) rs758351633
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7253A>C (p.Lys2418Thr) rs1565527146
NM_000051.4(ATM):c.73-3C>T rs1555054039
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.736A>T (p.Asn246Tyr)
NM_000051.4(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr) rs1555123191
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg) rs1555123216
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile) rs1591167543
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp) rs1322308382
NM_000051.4(ATM):c.7739G>T (p.Arg2580Ile) rs761790685
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.779C>T (p.Pro260Leu) rs961262202
NM_000051.4(ATM):c.7927+5G>A rs1299306446
NM_000051.4(ATM):c.79G>T (p.Val27Phe) rs754770960
NM_000051.4(ATM):c.805C>T (p.His269Tyr) rs1591504278
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del) rs1565540828
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val) rs2086688080
NM_000051.4(ATM):c.8140C>A (p.Gln2714Lys) rs1060501695
NM_000051.4(ATM):c.8251A>G (p.Thr2751Ala) rs2086799919
NM_000051.4(ATM):c.8268G>A (p.Lys2756=) rs1555128642
NM_000051.4(ATM):c.8269-10_8269-9del rs587780641
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val) rs879253877
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.4(ATM):c.840T>G (p.Ile280Met) rs1591504482
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr) rs876660927
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly) rs587778080
NM_000051.4(ATM):c.8605G>C (p.Gly2869Arg) rs748855312
NM_000051.4(ATM):c.8615A>G (p.His2872Arg) rs1591273938
NM_000051.4(ATM):c.8660A>C (p.His2887Pro) rs864622173
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg) rs1565567541
NM_000051.4(ATM):c.8672-9T>C rs2137283941
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu) rs1565579149
NM_000051.4(ATM):c.872A>G (p.His291Arg) rs1555067285
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.4(ATM):c.8787-3T>C rs2089687765
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val) rs1333760745
NM_000051.4(ATM):c.8850+5dup rs1400626849
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu) rs1555151244
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys) rs376524155
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.903T>C (p.Gly301=) rs876659335
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp) rs769548726
NM_000051.4(ATM):c.9076C>G (p.Leu3026Val)
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe) rs876660534
NM_000051.4(ATM):c.93G>C (p.Lys31Asn) rs863224583
NM_000051.4(ATM):c.951T>G (p.Asp317Glu) rs876659199
NM_000052.7(ATP7A):c.1618C>G (p.Pro540Ala)
NM_000052.7(ATP7A):c.2068G>C (p.Glu690Gln)
NM_000052.7(ATP7A):c.3044G>C (p.Gly1015Ala) rs2149104921
NM_000052.7(ATP7A):c.4385C>G (p.Ala1462Gly)
NM_000053.4(ATP7B):c.1100G>C (p.Gly367Ala)
NM_000053.4(ATP7B):c.1192A>G (p.Thr398Ala)
NM_000053.4(ATP7B):c.11A>C (p.Gln4Pro) rs781780227
NM_000053.4(ATP7B):c.1247C>T (p.Ala416Val) rs1951971023
NM_000053.4(ATP7B):c.1298C>G (p.Thr433Ser) rs763788226
NM_000053.4(ATP7B):c.131A>G (p.Tyr44Cys) rs1209726590
NM_000053.4(ATP7B):c.1495T>C (p.Cys499Arg) rs749968753
NM_000053.4(ATP7B):c.1543+15C>G rs1365158305
NM_000053.4(ATP7B):c.1616C>T (p.Pro539Leu) rs572122562
NM_000053.4(ATP7B):c.1946+5dup
NM_000053.4(ATP7B):c.1947-5T>C rs1958647927
NM_000053.4(ATP7B):c.199A>G (p.Met67Val)
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>A (p.Ser693Tyr) rs1212479289
NM_000053.4(ATP7B):c.2122-3C>T rs1593726901
NM_000053.4(ATP7B):c.2184C>G (p.Asn728Lys) rs1202766392
NM_000053.4(ATP7B):c.2207C>T (p.Ala736Val)
NM_000053.4(ATP7B):c.2251G>T (p.Ala751Ser) rs1555291181
NM_000053.4(ATP7B):c.2275A>T (p.Ser759Cys) rs2139534075
NM_000053.4(ATP7B):c.2290T>C (p.Phe764Leu)
NM_000053.4(ATP7B):c.2306T>C (p.Met769Thr)
NM_000053.4(ATP7B):c.2390C>T (p.Ser797Phe) rs1555290883
NM_000053.4(ATP7B):c.2448-4G>T rs1593697433
NM_000053.4(ATP7B):c.2480G>T (p.Arg827Leu) rs368589213
NM_000053.4(ATP7B):c.2558A>G (p.Asp853Gly) rs752634617
NM_000053.4(ATP7B):c.2581G>A (p.Ala861Thr)
NM_000053.4(ATP7B):c.2666A>T (p.His889Leu)
NM_000053.4(ATP7B):c.2826C>A (p.Ile942=) rs758712064
NM_000053.4(ATP7B):c.3041C>T (p.Pro1014Leu) rs2139048200
NM_000053.4(ATP7B):c.3139G>T (p.Asp1047Tyr) rs1441316018
NM_000053.4(ATP7B):c.3235T>C (p.Cys1079Arg) rs1376645882
NM_000053.4(ATP7B):c.3266G>T (p.Gly1089Val)
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3298T>A (p.Cys1100Ser) rs1566468882
NM_000053.4(ATP7B):c.3695_3697del (p.Thr1232_Gln1233delinsLys) rs1957150974
NM_000053.4(ATP7B):c.3982G>A (p.Ala1328Thr) rs1333619338
NM_000053.4(ATP7B):c.4057T>C (p.Trp1353Arg) rs1160679283
NM_000053.4(ATP7B):c.4058G>C (p.Trp1353Ser)
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4277G>T (p.Ser1426Ile)
NM_000054.7(AVPR2):c.1018C>T (p.Leu340Phe)
NM_000054.7(AVPR2):c.1099A>T (p.Lys367Ter)
NM_000054.7(AVPR2):c.377C>T (p.Ser126Phe) rs2148514471
NM_000054.7(AVPR2):c.427C>T (p.Arg143Cys)
NM_000055.4(BCHE):c.119A>G (p.Lys40Arg)
NM_000055.4(BCHE):c.1802del (p.Gly601fs)
NM_000057.3(BLM):c.4080dupG rs2151202230
NM_000057.4(BLM):c.1009A>G (p.Thr337Ala)
NM_000057.4(BLM):c.1075A>C (p.Thr359Pro) rs1332024999
NM_000057.4(BLM):c.1592A>C (p.Lys531Thr) rs1895966276
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000057.4(BLM):c.2323A>G (p.Arg775Gly) rs2151165680
NM_000057.4(BLM):c.2522T>C (p.Ile841Thr) rs767086502
NM_000057.4(BLM):c.2690C>G (p.Ser897Cys) rs750600011
NM_000057.4(BLM):c.2824-1066del rs1567055836
NM_000057.4(BLM):c.3005_3019del (p.Lys1002_Met1006del)
NM_000057.4(BLM):c.3047G>C (p.Arg1016Thr) rs2151187181
NM_000057.4(BLM):c.380C>A (p.Thr127Asn) rs1895613545
NM_000059.3(BRCA2):c.7241_7242inv (p.Ser2414Leu)
NM_000059.4(BRCA2):c.-18G>C rs1593880555
NM_000059.4(BRCA2):c.10061del (p.Ser3354fs) rs2073055112
NM_000059.4(BRCA2):c.10070C>G (p.Thr3357Arg) rs80358388
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro) rs751250810
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp) rs1064793835
NM_000059.4(BRCA2):c.10132G>A (p.Asp3378Asn) rs1593202359
NM_000059.4(BRCA2):c.10151G>A (p.Arg3384Gln) rs80358397
NM_000059.4(BRCA2):c.10160C>G (p.Thr3387Ser) rs863224584
NM_000059.4(BRCA2):c.10166C>T (p.Ser3389Phe) rs431825279
NM_000059.4(BRCA2):c.10187G>A (p.Ser3396Asn) rs889208749
NM_000059.4(BRCA2):c.10192C>T (p.Gln3398Ter) rs1566261530
NM_000059.4(BRCA2):c.10211G>A (p.Cys3404Tyr) rs587782614
NM_000059.4(BRCA2):c.10212_10213del (p.Cys3404_Glu3405delinsTer) rs876660845
NM_000059.4(BRCA2):c.10220A>G (p.Asn3407Ser) rs80358401
NM_000059.4(BRCA2):c.10225C>T (p.Gln3409Ter) rs2137667834
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys) rs730881600
NM_000059.4(BRCA2):c.1058C>T (p.Ser353Leu) rs769368098
NM_000059.4(BRCA2):c.1063G>C (p.Val355Leu) rs2072403612
NM_000059.4(BRCA2):c.1066T>A (p.Ser356Thr) rs398122722
NM_000059.4(BRCA2):c.1127T>G (p.Phe376Cys) rs80358410
NM_000059.4(BRCA2):c.1216_1219delinsACCG (p.Ala406_Gln407delinsThrGlu) rs886037742
NM_000059.4(BRCA2):c.1232T>C (p.Ile411Thr) rs79597821
NM_000059.4(BRCA2):c.1235C>T (p.Pro412Leu) rs876659628
NM_000059.4(BRCA2):c.128A>G (p.Asn43Ser) rs2072285447
NM_000059.4(BRCA2):c.1317T>G (p.Phe439Leu) rs1555281834
NM_000059.4(BRCA2):c.1322C>T (p.Thr441Ile) rs1064793062
NM_000059.4(BRCA2):c.1354C>A (p.Leu452Ile) rs80358424
NM_000059.4(BRCA2):c.1378A>C (p.Asn460His) rs1270441968
NM_000059.4(BRCA2):c.1388C>G (p.Thr463Arg) rs151011453
NM_000059.4(BRCA2):c.1424A>T (p.Glu475Val) rs1213277350
NM_000059.4(BRCA2):c.1454A>G (p.Lys485Arg) rs1593892915
NM_000059.4(BRCA2):c.1478C>T (p.Pro493Leu) rs786202916
NM_000059.4(BRCA2):c.1483G>C (p.Ala495Pro) rs80358437
NM_000059.4(BRCA2):c.1511C>G (p.Ser504Cys) rs886037807
NM_000059.4(BRCA2):c.1553C>G (p.Ala518Gly) rs2072416288
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn) rs80358446
NM_000059.4(BRCA2):c.1627C>T (p.His543Tyr) rs80358446
NM_000059.4(BRCA2):c.1630A>G (p.Thr544Ala) rs80358447
NM_000059.4(BRCA2):c.1655C>A (p.Ser552Tyr) rs1566224045
NM_000059.4(BRCA2):c.1660T>C (p.Cys554Arg) rs786202149
NM_000059.4(BRCA2):c.1666A>G (p.Asn556Asp) rs587781794
NM_000059.4(BRCA2):c.1668T>G (p.Asn556Lys)
NM_000059.4(BRCA2):c.1718C>G (p.Ala573Gly) rs1262187089
NM_000059.4(BRCA2):c.1728T>A (p.Asn576Lys) rs1555282035
NM_000059.4(BRCA2):c.1756A>G (p.Lys586Glu) rs397507275
NM_000059.4(BRCA2):c.1820A>G (p.Lys607Arg) rs55962656
NM_000059.4(BRCA2):c.1825C>G (p.Gln609Glu) rs80358472
NM_000059.4(BRCA2):c.1826A>G (p.Gln609Arg) rs80358473
NM_000059.4(BRCA2):c.1841T>C (p.Ile614Thr) rs1566224476
NM_000059.4(BRCA2):c.1861_1863delinsAGC (p.Glu621Ser) rs2072424315
NM_000059.4(BRCA2):c.1865C>A (p.Ala622Glu) rs80358477
NM_000059.4(BRCA2):c.1876G>A (p.Glu626Lys) rs1566224551
NM_000059.4(BRCA2):c.1882C>T (p.Pro628Ser) rs1163156807
NM_000059.4(BRCA2):c.1895C>G (p.Ala632Gly) rs876659192
NM_000059.4(BRCA2):c.1909+11_1909+12insA rs2072425470
NM_000059.4(BRCA2):c.1909+9G>T rs794726969
NM_000059.4(BRCA2):c.1910-7del rs2137481686
NM_000059.4(BRCA2):c.194C>T (p.Pro65Leu) rs1566215861
NM_000059.4(BRCA2):c.1971G>T (p.Leu657Phe)
NM_000059.4(BRCA2):c.200G>C (p.Arg67Thr) rs1239929428
NM_000059.4(BRCA2):c.2042T>C (p.Val681Ala) rs1039304689
NM_000059.4(BRCA2):c.2044A>C (p.Ile682Leu) rs398122738
NM_000059.4(BRCA2):c.205C>A (p.Pro69Thr) rs876658614
NM_000059.4(BRCA2):c.2077T>C (p.Cys693Arg) rs878853558
NM_000059.4(BRCA2):c.2091A>C (p.Lys697Asn) rs876659230
NM_000059.4(BRCA2):c.2097G>T (p.Gln699His) rs80358486
NM_000059.4(BRCA2):c.2119G>A (p.Asp707Asn) rs80358487
NM_000059.4(BRCA2):c.2131T>C (p.Cys711Arg)
NM_000059.4(BRCA2):c.2197G>A (p.Val733Ile) rs876658303
NM_000059.4(BRCA2):c.2206G>A (p.Ala736Thr) rs730881513
NM_000059.4(BRCA2):c.2240A>G (p.Glu747Gly) rs397507283
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly) rs80358495
NM_000059.4(BRCA2):c.2300G>C (p.Ser767Thr)
NM_000059.4(BRCA2):c.2308A>G (p.Ile770Val) rs1593896607
NM_000059.4(BRCA2):c.230C>G (p.Thr77Ser) rs1003162870
NM_000059.4(BRCA2):c.2333T>C (p.Val778Ala) rs1064793704
NM_000059.4(BRCA2):c.2341A>C (p.Asn781His) rs587782485
NM_000059.4(BRCA2):c.2345T>G (p.Leu782Arg) rs876661019
NM_000059.4(BRCA2):c.2361A>C (p.Arg787Ser)
NM_000059.4(BRCA2):c.2362G>A (p.Gly788Ser) rs1060502434
NM_000059.4(BRCA2):c.2389A>C (p.Lys797Gln) rs587782737
NM_000059.4(BRCA2):c.2390A>G (p.Lys797Arg) rs2072456610
NM_000059.4(BRCA2):c.2418T>G (p.Asp806Glu) rs1131692107
NM_000059.4(BRCA2):c.2419G>A (p.Val807Ile) rs2137486258
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.2464T>C (p.Cys822Arg) rs80358512
NM_000059.4(BRCA2):c.2474A>G (p.Asn825Ser) rs1593897016
NM_000059.4(BRCA2):c.2476G>A (p.Glu826Lys) rs1566226803
NM_000059.4(BRCA2):c.2480A>G (p.Asn827Ser) rs1566226814
NM_000059.4(BRCA2):c.2485A>G (p.Lys829Glu) rs1270048702
NM_000059.4(BRCA2):c.249G>C (p.Glu83Asp) rs1442324599
NM_000059.4(BRCA2):c.24_25delinsTT (p.Arg8_Pro9delinsSerSer)
NM_000059.4(BRCA2):c.2515T>C (p.Tyr839His) rs587778125
NM_000059.4(BRCA2):c.2522G>A (p.Arg841Lys) rs587781915
NM_000059.4(BRCA2):c.2528C>T (p.Ala843Val) rs80358517
NM_000059.4(BRCA2):c.2545G>T (p.Val849Leu) rs786202105
NM_000059.4(BRCA2):c.2567A>G (p.Asn856Ser)
NM_000059.4(BRCA2):c.2580C>G (p.Ile860Met) rs1593897261
NM_000059.4(BRCA2):c.2585A>G (p.Lys862Arg) rs876659257
NM_000059.4(BRCA2):c.2600C>G (p.Thr867Ser) rs2072460919
NM_000059.4(BRCA2):c.2629C>G (p.Pro877Ala) rs80358524
NM_000059.4(BRCA2):c.2633A>G (p.Asp878Gly) rs765618026
NM_000059.4(BRCA2):c.2656A>C (p.Asn886His)
NM_000059.4(BRCA2):c.2672T>A (p.Val891Asp) rs1593897497
NM_000059.4(BRCA2):c.2679A>G (p.Gln893=) rs786203640
NM_000059.4(BRCA2):c.2683G>A (p.Ala895Thr) rs786203045
NM_000059.4(BRCA2):c.2705C>T (p.Ala902Val) rs749258007
NM_000059.4(BRCA2):c.2714A>G (p.Asn905Ser) rs730881515
NM_000059.4(BRCA2):c.2749G>A (p.Val917Ile) rs1555282822
NM_000059.4(BRCA2):c.2779A>G (p.Met927Val) rs786201837
NM_000059.4(BRCA2):c.2819A>G (p.Gln940Arg) rs1057520249
NM_000059.4(BRCA2):c.2843T>C (p.Val948Ala) rs730881517
NM_000059.4(BRCA2):c.2892A>T (p.Lys964Asn) rs587778119
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala) rs786203080
NM_000059.4(BRCA2):c.2922C>G (p.Asp974Glu) rs929538989
NM_000059.4(BRCA2):c.2938G>T (p.Asp980Tyr) rs397507298
NM_000059.4(BRCA2):c.2942A>G (p.Lys981Arg) rs398122757
NM_000059.4(BRCA2):c.2968A>G (p.Met990Val) rs876660083
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu) rs1555282999
NM_000059.4(BRCA2):c.3043A>G (p.Lys1015Glu)
NM_000059.4(BRCA2):c.3071T>C (p.Ile1024Thr) rs764921920
NM_000059.4(BRCA2):c.3074AGA[3] (p.Lys1026dup) rs1342774938
NM_000059.4(BRCA2):c.3116CTA[1] (p.Thr1040del) rs1064795908
NM_000059.4(BRCA2):c.3122G>C (p.Ser1041Thr) rs276174832
NM_000059.4(BRCA2):c.3154G>C (p.Ala1052Pro) rs730881520
NM_000059.4(BRCA2):c.3169A>G (p.Lys1057Glu) rs1566227924
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg) rs786201916
NM_000059.4(BRCA2):c.3185C>G (p.Pro1062Arg) rs564316199
NM_000059.4(BRCA2):c.3193A>T (p.Ile1065Phe) rs2137494162
NM_000059.4(BRCA2):c.3197A>G (p.Asn1066Ser) rs762752733
NM_000059.4(BRCA2):c.3225T>G (p.Ser1075Arg) rs779228375
NM_000059.4(BRCA2):c.3239A>T (p.Asp1080Val)
NM_000059.4(BRCA2):c.3242G>A (p.Cys1081Tyr) rs752871893
NM_000059.4(BRCA2):c.325G>A (p.Val109Ile) rs1359975493
NM_000059.4(BRCA2):c.3268A>G (p.Met1090Val) rs398122760
NM_000059.4(BRCA2):c.3270G>C (p.Met1090Ile) rs80358574
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His) rs397507306
NM_000059.4(BRCA2):c.3322A>C (p.Lys1108Gln) rs1555283169
NM_000059.4(BRCA2):c.3324G>T (p.Lys1108Asn) rs1555283170
NM_000059.4(BRCA2):c.3381T>G (p.Phe1127Leu) rs1057522933
NM_000059.4(BRCA2):c.3382A>G (p.Thr1128Ala) rs730881523
NM_000059.4(BRCA2):c.3406A>G (p.Ile1136Val) rs876658683
NM_000059.4(BRCA2):c.340C>T (p.His114Tyr) rs587778129
NM_000059.4(BRCA2):c.341A>C (p.His114Pro) rs80358586
NM_000059.4(BRCA2):c.3422C>T (p.Thr1141Ile) rs397507308
NM_000059.4(BRCA2):c.3437A>G (p.Glu1146Gly) rs80358588
NM_000059.4(BRCA2):c.3443A>G (p.Gln1148Arg) rs200808363
NM_000059.4(BRCA2):c.344_349delinsCTA (p.Lys115_Leu117delinsThrIle) rs2137446242
NM_000059.4(BRCA2):c.3458A>G (p.Lys1153Arg) rs80358594
NM_000059.4(BRCA2):c.348T>G (p.Ser116Arg) rs397507309
NM_000059.4(BRCA2):c.3503T>A (p.Met1168Lys) rs80358598
NM_000059.4(BRCA2):c.3506A>C (p.Asn1169Thr) rs1194031580
NM_000059.4(BRCA2):c.3506A>G (p.Asn1169Ser) rs1194031580
NM_000059.4(BRCA2):c.3512C>T (p.Pro1171Leu) rs1566228707
NM_000059.4(BRCA2):c.3515C>G (p.Ser1172Trp) rs80358600
NM_000059.4(BRCA2):c.3556G>A (p.Val1186Ile) rs587782420
NM_000059.4(BRCA2):c.3578C>T (p.Ala1193Val) rs431825310
NM_000059.4(BRCA2):c.3593A>C (p.Asn1198Thr) rs780927790
NM_000059.4(BRCA2):c.3630T>G (p.Asp1210Glu) rs786202991
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr) rs397507313
NM_000059.4(BRCA2):c.3676A>C (p.Lys1226Gln) rs730881525
NM_000059.4(BRCA2):c.3728A>C (p.Asp1243Ala)
NM_000059.4(BRCA2):c.3755C>A (p.Ser1252Tyr) rs1361496246
NM_000059.4(BRCA2):c.3762G>T (p.Glu1254Asp) rs777028631
NM_000059.4(BRCA2):c.3784T>G (p.Ser1262Ala) rs2072488451
NM_000059.4(BRCA2):c.3796C>T (p.His1266Tyr) rs1566229153
NM_000059.4(BRCA2):c.3797A>G (p.His1266Arg) rs1555283399
NM_000059.4(BRCA2):c.37G>A (p.Glu13Lys) rs80358622
NM_000059.4(BRCA2):c.3807_3808inv (p.Val1270Ile)
NM_000059.4(BRCA2):c.3816G>A (p.Met1272Ile) rs1469541725
NM_000059.4(BRCA2):c.3824T>C (p.Ile1275Thr) rs80358625
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys) rs878853575
NM_000059.4(BRCA2):c.3833A>G (p.His1278Arg) rs1566229217
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly) rs80358627
NM_000059.4(BRCA2):c.3852T>A (p.Ser1284Arg) rs777895333
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del) rs276174837
NM_000059.4(BRCA2):c.3887A>G (p.Asn1296Ser)
NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile) rs876659209
NM_000059.4(BRCA2):c.3902C>T (p.Thr1301Ile) rs1455648880
NM_000059.4(BRCA2):c.3922G>A (p.Glu1308Lys) rs80358638
NM_000059.4(BRCA2):c.3949A>T (p.Thr1317Ser) rs398122773
NM_000059.4(BRCA2):c.3958_3963del (p.Glu1320_Asp1321del) rs2137501543
NM_000059.4(BRCA2):c.3964A>G (p.Asn1322Asp) rs879255449
NM_000059.4(BRCA2):c.3965A>C (p.Asn1322Thr) rs80358646
NM_000059.4(BRCA2):c.3966_3968del (p.Asn1322del) rs397507319
NM_000059.4(BRCA2):c.3970T>C (p.Tyr1324His) rs879254067
NM_000059.4(BRCA2):c.4019A>T (p.Asp1340Val) rs1555283506
NM_000059.4(BRCA2):c.4037_4043delinsT (p.Thr1346_Cys1348delinsIle) rs276174841
NM_000059.4(BRCA2):c.4070T>G (p.Leu1357Arg) rs55796504
NM_000059.4(BRCA2):c.4081C>G (p.Gln1361Glu) rs587780652
NM_000059.4(BRCA2):c.4085A>T (p.His1362Leu) rs1060502441
NM_000059.4(BRCA2):c.4089C>A (p.Asn1363Lys) rs80359787
NM_000059.4(BRCA2):c.4093T>C (p.Cys1365Arg) rs2137502841
NM_000059.4(BRCA2):c.4109G>C (p.Gly1370Ala) rs587781406
NM_000059.4(BRCA2):c.4120A>G (p.Lys1374Glu) rs864622126
NM_000059.4(BRCA2):c.4141_4143del (p.Lys1381del) rs587782157
NM_000059.4(BRCA2):c.4156_4157delinsTG (p.Asp1386Cys) rs2072497730
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val) rs1409088355
NM_000059.4(BRCA2):c.4184C>T (p.Ala1395Val) rs1782230124
NM_000059.4(BRCA2):c.4189G>A (p.Glu1397Lys) rs28897726
NM_000059.4(BRCA2):c.4190A>C (p.Glu1397Ala) rs1566229868
NM_000059.4(BRCA2):c.4193C>T (p.Ala1398Val) rs2072498593
NM_000059.4(BRCA2):c.41T>A (p.Ile14Asn) rs1241704385
NM_000059.4(BRCA2):c.4243G>C (p.Glu1415Gln) rs397507327
NM_000059.4(BRCA2):c.425+7_425+8insCATA rs1593886125
NM_000059.4(BRCA2):c.4254A>G (p.Ile1418Met) rs1064793378
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.426-12_426-8del rs276174844
NM_000059.4(BRCA2):c.426-20T>G rs1064795008
NM_000059.4(BRCA2):c.4274A>G (p.Asp1425Gly) rs398122780
NM_000059.4(BRCA2):c.4310G>C (p.Ser1437Thr) rs1403318277
NM_000059.4(BRCA2):c.4320A>C (p.Lys1440Asn) rs769535925
NM_000059.4(BRCA2):c.4354C>G (p.Gln1452Glu) rs431825319
NM_000059.4(BRCA2):c.4373A>G (p.His1458Arg) rs587782185
NM_000059.4(BRCA2):c.4377C>G (p.Asn1459Lys) rs80358673
NM_000059.4(BRCA2):c.437T>C (p.Leu146Pro) rs539929888
NM_000059.4(BRCA2):c.4408A>G (p.Ile1470Val) rs2137506004
NM_000059.4(BRCA2):c.440A>T (p.Gln147Leu) rs80358674
NM_000059.4(BRCA2):c.4417A>G (p.Asn1473Asp) rs80358675
NM_000059.4(BRCA2):c.443G>A (p.Cys148Tyr) rs1204909245
NM_000059.4(BRCA2):c.4446_4451dup (p.Glu1482_Thr1483dup) rs863224826
NM_000059.4(BRCA2):c.4464C>A (p.His1488Gln) rs786203743
NM_000059.4(BRCA2):c.44_45insATT (p.Ile14_Phe15insLeu) rs80359445
NM_000059.4(BRCA2):c.455C>A (p.Thr152Lys) rs80358691
NM_000059.4(BRCA2):c.4584C>G (p.Ser1528Arg) rs80359788
NM_000059.4(BRCA2):c.4612T>A (p.Ser1538Thr) rs1566230812
NM_000059.4(BRCA2):c.4624G>A (p.Val1542Met) rs28897729
NM_000059.4(BRCA2):c.4631A>G (p.Asn1544Ser) rs587782753
NM_000059.4(BRCA2):c.4646A>T (p.Lys1549Ile)
NM_000059.4(BRCA2):c.465A>T (p.Arg155Ser) rs1228857437
NM_000059.4(BRCA2):c.4670C>T (p.Thr1557Ile) rs80358698
NM_000059.4(BRCA2):c.4723G>A (p.Asp1575Asn) rs587782013
NM_000059.4(BRCA2):c.4727T>C (p.Leu1576Pro) rs2072511723
NM_000059.4(BRCA2):c.4736C>T (p.Ala1579Val) rs1555283920
NM_000059.4(BRCA2):c.476-3C>T rs371431745
NM_000059.4(BRCA2):c.476-8A>G rs1311844326
NM_000059.4(BRCA2):c.4801_4803del (p.Asp1601del) rs730881609
NM_000059.4(BRCA2):c.4849A>C (p.Ser1617Arg) rs80358707
NM_000059.4(BRCA2):c.4856A>G (p.Asn1619Ser) rs80358709
NM_000059.4(BRCA2):c.4879C>A (p.Leu1627Ile) rs2137511207
NM_000059.4(BRCA2):c.4933_4935del (p.Lys1645del) rs80359472
NM_000059.4(BRCA2):c.4940C>A (p.Thr1647Lys) rs1593903891
NM_000059.4(BRCA2):c.4952C>G (p.Pro1651Arg) rs565268514
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala) rs587782186
NM_000059.4(BRCA2):c.4987G>A (p.Val1663Ile) rs587781763
NM_000059.4(BRCA2):c.4997A>G (p.Asn1666Ser) rs1344419982
NM_000059.4(BRCA2):c.5003C>T (p.Ala1668Val) rs80358724
NM_000059.4(BRCA2):c.5009C>T (p.Ala1670Val) rs1566231551
NM_000059.4(BRCA2):c.5024G>A (p.Cys1675Tyr)
NM_000059.4(BRCA2):c.502C>G (p.Pro168Ala) rs80358726
NM_000059.4(BRCA2):c.5098G>A (p.Gly1700Ser) rs80358733
NM_000059.4(BRCA2):c.5125G>C (p.Asp1709His) rs398122792
NM_000059.4(BRCA2):c.5125G>T (p.Asp1709Tyr) rs398122792
NM_000059.4(BRCA2):c.516+14del rs1336445194
NM_000059.4(BRCA2):c.516+17G>T rs765435155
NM_000059.4(BRCA2):c.517-16T>C rs81002839
NM_000059.4(BRCA2):c.5171T>C (p.Ile1724Thr) rs80358743
NM_000059.4(BRCA2):c.518G>A (p.Gly173Asp) rs28897702
NM_000059.4(BRCA2):c.5191C>T (p.His1731Tyr) rs80358745
NM_000059.4(BRCA2):c.5209G>A (p.Asp1737Asn)
NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys) rs41293469
NM_000059.4(BRCA2):c.5210A>T (p.Asp1737Val) rs587778120
NM_000059.4(BRCA2):c.5266G>C (p.Val1756Leu) rs876659138
NM_000059.4(BRCA2):c.5272_5286del (p.Asn1758_Tyr1762del) rs758071261
NM_000059.4(BRCA2):c.5299_5307del (p.Lys1767_Asp1769del) rs80359504
NM_000059.4(BRCA2):c.5319_5342del (p.Glu1773_Glu1780del) rs1593905133
NM_000059.4(BRCA2):c.5335G>A (p.Val1779Ile) rs431825329
NM_000059.4(BRCA2):c.5351A>T (p.Asn1784Ile)
NM_000059.4(BRCA2):c.5353A>G (p.Thr1785Ala) rs786202394
NM_000059.4(BRCA2):c.5365A>G (p.Lys1789Glu) rs587782240
NM_000059.4(BRCA2):c.5380G>C (p.Val1794Leu)
NM_000059.4(BRCA2):c.539T>C (p.Ile180Thr) rs80358761
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala) rs370252983
NM_000059.4(BRCA2):c.5419G>C (p.Asp1807His)
NM_000059.4(BRCA2):c.5422A>G (p.Ile1808Val)
NM_000059.4(BRCA2):c.542C>T (p.Ser181Phe) rs1555281052
NM_000059.4(BRCA2):c.5438T>C (p.Leu1813Pro) rs398122532
NM_000059.4(BRCA2):c.5456C>T (p.Pro1819Leu) rs876659214
NM_000059.4(BRCA2):c.5458T>C (p.Cys1820Arg) rs1566232493
NM_000059.4(BRCA2):c.5458T>G (p.Cys1820Gly) rs1566232493
NM_000059.4(BRCA2):c.5465A>T (p.Asn1822Ile) rs587781580
NM_000059.4(BRCA2):c.5483A>G (p.Lys1828Arg) rs879255459
NM_000059.4(BRCA2):c.548G>A (p.Ser183Asn) rs863224593
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) rs587782007
NM_000059.4(BRCA2):c.5495C>G (p.Ser1832Cys) rs138489917
NM_000059.4(BRCA2):c.5505T>G (p.Asn1835Lys) rs80358772
NM_000059.4(BRCA2):c.5508T>G (p.Asn1836Lys) rs80358774
NM_000059.4(BRCA2):c.551T>C (p.Leu184Pro) rs80358775
NM_000059.4(BRCA2):c.553G>A (p.Gly185Arg) rs2072349608
NM_000059.4(BRCA2):c.5596T>C (p.Phe1866Leu) rs80358779
NM_000059.4(BRCA2):c.5625G>T (p.Lys1875Asn) rs1316343192
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly) rs398122536
NM_000059.4(BRCA2):c.5649A>C (p.Lys1883Asn) rs80358787
NM_000059.4(BRCA2):c.5659A>G (p.Thr1887Ala) rs786202618
NM_000059.4(BRCA2):c.5668A>G (p.Met1890Val) rs80358793
NM_000059.4(BRCA2):c.566A>G (p.Asp189Gly) rs397507359
NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser) rs786203948
NM_000059.4(BRCA2):c.5678G>T (p.Cys1893Phe) rs2072535635
NM_000059.4(BRCA2):c.5708T>C (p.Ile1903Thr) rs149474191
NM_000059.4(BRCA2):c.5731G>A (p.Asp1911Asn) rs2072537137
NM_000059.4(BRCA2):c.5737T>G (p.Cys1913Gly) rs80358799
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.4(BRCA2):c.5753A>T (p.His1918Leu)
NM_000059.4(BRCA2):c.575T>A (p.Met192Lys) rs80358805
NM_000059.4(BRCA2):c.575T>C (p.Met192Thr) rs80358805
NM_000059.4(BRCA2):c.5821A>G (p.Lys1941Glu) rs1555284411
NM_000059.4(BRCA2):c.5831A>C (p.Lys1944Thr) rs2137521445
NM_000059.4(BRCA2):c.5839C>G (p.Pro1947Ala) rs80358812
NM_000059.4(BRCA2):c.587G>T (p.Ser196Ile) rs80358818
NM_000059.4(BRCA2):c.5945G>C (p.Ser1982Thr) rs28897738
NM_000059.4(BRCA2):c.595G>C (p.Ala199Pro) rs376582345
NM_000059.4(BRCA2):c.5989A>G (p.Arg1997Gly) rs1555284492
NM_000059.4(BRCA2):c.6071A>G (p.Gln2024Arg) rs80358845
NM_000059.4(BRCA2):c.6076A>C (p.Thr2026Pro) rs587782249
NM_000059.4(BRCA2):c.6080G>A (p.Arg2027Lys) rs431825337
NM_000059.4(BRCA2):c.6088A>G (p.Asn2030Asp) rs1555284539
NM_000059.4(BRCA2):c.6121T>A (p.Ser2041Thr) rs1160083526
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro) rs80358852
NM_000059.4(BRCA2):c.6148G>A (p.Val2050Ile) rs80358854
NM_000059.4(BRCA2):c.6172T>C (p.Phe2058Leu) rs80358857
NM_000059.4(BRCA2):c.6181G>A (p.Ala2061Thr) rs1555284585
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp) rs1555284596
NM_000059.4(BRCA2):c.6222C>G (p.His2074Gln) rs1555284601
NM_000059.4(BRCA2):c.6235G>A (p.Val2079Met)
NM_000059.4(BRCA2):c.6238T>G (p.Leu2080Val) rs876658993
NM_000059.4(BRCA2):c.6242A>C (p.Glu2081Ala) rs1593907983
NM_000059.4(BRCA2):c.6269A>G (p.His2090Arg) rs397507366
NM_000059.4(BRCA2):c.631+7A>G rs431825339
NM_000059.4(BRCA2):c.6315A>G (p.Ile2105Met) rs398122552
NM_000059.4(BRCA2):c.6323G>T (p.Arg2108Leu) rs35029074
NM_000059.4(BRCA2):c.6328G>C (p.Asp2110His) rs1593908267
NM_000059.4(BRCA2):c.6411T>A (p.Asn2137Lys) rs878853597
NM_000059.4(BRCA2):c.6415_6416delinsAT (p.Glu2139Ile) rs1064795067
NM_000059.4(BRCA2):c.6416A>C (p.Glu2139Ala) rs751071709
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del) rs80359588
NM_000059.4(BRCA2):c.6469C>G (p.Gln2157Glu) rs397507859
NM_000059.4(BRCA2):c.6513_6514delinsCG (p.Ser2172Ala) rs1064794089
NM_000059.4(BRCA2):c.6521T>C (p.Val2174Ala) rs876659448
NM_000059.4(BRCA2):c.6553G>C (p.Ala2185Pro) rs746070652
NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu) rs1135401833
NM_000059.4(BRCA2):c.6568G>A (p.Val2190Ile) rs80358888
NM_000059.4(BRCA2):c.6568G>T (p.Val2190Leu) rs80358888
NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His) rs1555284771
NM_000059.4(BRCA2):c.6614T>G (p.Val2205Gly) rs730881546
NM_000059.4(BRCA2):c.6627A>G (p.Ile2209Met) rs147275663
NM_000059.4(BRCA2):c.6679G>A (p.Ala2227Thr) rs431825345
NM_000059.4(BRCA2):c.6691_6692delinsTT (p.Ala2231Phe) rs1057517557
NM_000059.4(BRCA2):c.6698C>G (p.Ala2233Gly) rs41293501
NM_000059.4(BRCA2):c.6711TGA[1] (p.Asp2238del) rs786202738
NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg) rs80358898
NM_000059.4(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.4(BRCA2):c.6787G>A (p.Val2263Ile) rs1566235410
NM_000059.4(BRCA2):c.6792G>C (p.Leu2264Phe) rs756182263
NM_000059.4(BRCA2):c.67G>C (p.Asp23His) rs397507881
NM_000059.4(BRCA2):c.6805A>C (p.Ile2269Leu) rs1300492434
NM_000059.4(BRCA2):c.681+6T>C rs2072373896
NM_000059.4(BRCA2):c.682-13A>T rs81002888
NM_000059.4(BRCA2):c.682-15C>T rs864622084
NM_000059.4(BRCA2):c.6829C>T (p.Leu2277Phe) rs786202214
NM_000059.4(BRCA2):c.6841G>A (p.Gly2281Arg) rs1390926046
NM_000059.4(BRCA2):c.6842-14A>T rs81002821
NM_000059.4(BRCA2):c.6842-20T>C rs81002811
NM_000059.4(BRCA2):c.6842G>T (p.Gly2281Val) rs80358908
NM_000059.4(BRCA2):c.6890T>C (p.Ile2297Thr) rs1566236920
NM_000059.4(BRCA2):c.6916G>T (p.Ala2306Ser) rs730881550
NM_000059.4(BRCA2):c.6922A>G (p.Lys2308Glu) rs398122570
NM_000059.4(BRCA2):c.6923A>C (p.Lys2308Thr) rs186810431
NM_000059.4(BRCA2):c.6937+11C>G rs1330187616
NM_000059.4(BRCA2):c.6937+17A>T rs1057522185
NM_000059.4(BRCA2):c.6937+8T>C
NM_000059.4(BRCA2):c.6938-13A>C rs2072613692
NM_000059.4(BRCA2):c.6938-19T>C rs2137541081
NM_000059.4(BRCA2):c.6956G>C (p.Arg2319Thr) rs80358922
NM_000059.4(BRCA2):c.6959T>C (p.Leu2320Ser) rs80358923
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val) rs876661032
NM_000059.4(BRCA2):c.7007+5G>A rs81002816
NM_000059.4(BRCA2):c.7007+7_7007+8del rs1555285373
NM_000059.4(BRCA2):c.7008-9C>T rs186220967
NM_000059.4(BRCA2):c.7022G>T (p.Arg2341Leu) rs786202839
NM_000059.4(BRCA2):c.7040C>A (p.Pro2347Gln) rs80358929
NM_000059.4(BRCA2):c.704A>G (p.Asn235Ser) rs587780554
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro) rs80358930
NM_000059.4(BRCA2):c.705T>G (p.Asn235Lys) rs587781484
NM_000059.4(BRCA2):c.7067T>A (p.Phe2356Tyr) rs587781844
NM_000059.4(BRCA2):c.7088A>G (p.Tyr2363Cys) rs80358939
NM_000059.4(BRCA2):c.7095T>A (p.His2365Gln) rs370708814
NM_000059.4(BRCA2):c.7166G>A (p.Arg2389Lys) rs1302207132
NM_000059.4(BRCA2):c.7213G>C (p.Val2405Leu) rs1555286046
NM_000059.4(BRCA2):c.7222C>A (p.Pro2408Thr) rs398122577
NM_000059.4(BRCA2):c.7235C>T (p.Thr2412Ile) rs397507384
NM_000059.4(BRCA2):c.7237A>G (p.Lys2413Glu) rs1555286056
NM_000059.4(BRCA2):c.7256T>G (p.Val2419Gly)
NM_000059.4(BRCA2):c.7282T>G (p.Leu2428Val) rs1057521856
NM_000059.4(BRCA2):c.7294A>G (p.Arg2432Gly) rs1555286073
NM_000059.4(BRCA2):c.730G>T (p.Asp244Tyr) rs80358956
NM_000059.4(BRCA2):c.7340A>T (p.Asn2447Ile) rs763490852
NM_000059.4(BRCA2):c.7353C>A (p.Asp2451Glu)
NM_000059.4(BRCA2):c.7372A>C (p.Asn2458His) rs1278943365
NM_000059.4(BRCA2):c.7415A>G (p.Lys2472Arg) rs80358963
NM_000059.4(BRCA2):c.7418G>T (p.Cys2473Phe) rs55924966
NM_000059.4(BRCA2):c.7429C>G (p.Pro2477Ala)
NM_000059.4(BRCA2):c.7434A>C (p.Leu2478Phe) rs1593918707
NM_000059.4(BRCA2):c.7435+17del rs1472572621
NM_000059.4(BRCA2):c.7435+18G>A rs878853602
NM_000059.4(BRCA2):c.7436-20A>G rs878853604
NM_000059.4(BRCA2):c.7499G>C (p.Arg2500Thr) rs80358976
NM_000059.4(BRCA2):c.7505G>C (p.Arg2502Pro) rs56070345
NM_000059.4(BRCA2):c.752C>G (p.Thr251Arg) rs587781513
NM_000059.4(BRCA2):c.754G>C (p.Asp252His) rs549269828
NM_000059.4(BRCA2):c.7550C>G (p.Thr2517Ser) rs1555286277
NM_000059.4(BRCA2):c.7595C>A (p.Pro2532His) rs967458408
NM_000059.4(BRCA2):c.7597T>A (p.Ser2533Thr) rs786204150
NM_000059.4(BRCA2):c.7617+18A>G rs2137563834
NM_000059.4(BRCA2):c.7618-16T>G rs397507924
NM_000059.4(BRCA2):c.7618-18T>C rs560091100
NM_000059.4(BRCA2):c.7622A>G (p.Tyr2541Cys) rs1566242642
NM_000059.4(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.4(BRCA2):c.7630G>C (p.Gly2544Arg) rs587781485
NM_000059.4(BRCA2):c.7682A>T (p.Gln2561Leu) rs55647716
NM_000059.4(BRCA2):c.7686T>G (p.Phe2562Leu) rs2137566775
NM_000059.4(BRCA2):c.7696G>T (p.Asp2566Tyr) rs80358996
NM_000059.4(BRCA2):c.7723A>G (p.Thr2575Ala) rs1064793308
NM_000059.4(BRCA2):c.7751G>A (p.Gly2584Asp) rs80359001
NM_000059.4(BRCA2):c.776G>A (p.Arg259Lys) rs1566221533
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser) rs80359006
NM_000059.4(BRCA2):c.7783G>T (p.Ala2595Ser) rs80359007
NM_000059.4(BRCA2):c.7828G>A (p.Val2610Met) rs587780661
NM_000059.4(BRCA2):c.7874G>A (p.Arg2625Lys) rs864622552
NM_000059.4(BRCA2):c.7880T>G (p.Ile2627Ser) rs876658736
NM_000059.4(BRCA2):c.7891C>A (p.Leu2631Met) rs876660528
NM_000059.4(BRCA2):c.7919A>G (p.Lys2640Arg) rs397507394
NM_000059.4(BRCA2):c.7933A>G (p.Arg2645Gly) rs876658889
NM_000059.4(BRCA2):c.7939C>G (p.Leu2647Val) rs778391123
NM_000059.4(BRCA2):c.7976G>T (p.Arg2659Ile)
NM_000059.4(BRCA2):c.7977-4_7977-3del rs876659992
NM_000059.4(BRCA2):c.7984A>G (p.Thr2662Ala) rs1566245207
NM_000059.4(BRCA2):c.8100A>G (p.Ile2700Met) rs1555286995
NM_000059.4(BRCA2):c.8114G>A (p.Ser2705Asn) rs778806241
NM_000059.4(BRCA2):c.8116A>G (p.Asn2706Asp) rs1196515495
NM_000059.4(BRCA2):c.812G>A (p.Gly271Glu) rs1247032180
NM_000059.4(BRCA2):c.8141A>G (p.Gln2714Arg) rs80359059
NM_000059.4(BRCA2):c.8169T>A (p.Asp2723Glu) rs1060502432
NM_000059.4(BRCA2):c.8215G>T (p.Val2739Phe) rs80359069
NM_000059.4(BRCA2):c.8225A>G (p.Asn2742Ser) rs587782763
NM_000059.4(BRCA2):c.8246AGA[1] (p.Lys2750del) rs80359703
NM_000059.4(BRCA2):c.8290G>A (p.Ala2764Thr) rs786202189
NM_000059.4(BRCA2):c.8303T>A (p.Leu2768His) rs587782732
NM_000059.4(BRCA2):c.8324T>C (p.Met2775Thr) rs80359073
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg) rs80359073
NM_000059.4(BRCA2):c.832A>G (p.Ser278Gly) rs2137465127
NM_000059.4(BRCA2):c.8331+16C>T rs730881595
NM_000059.4(BRCA2):c.8332-2dup rs2137596307
NM_000059.4(BRCA2):c.8353C>G (p.Pro2785Ala) rs786202287
NM_000059.4(BRCA2):c.8354C>T (p.Pro2785Leu) rs786202034
NM_000059.4(BRCA2):c.8366A>G (p.Tyr2789Cys) rs398122603
NM_000059.4(BRCA2):c.8368A>G (p.Thr2790Ala) rs80359081
NM_000059.4(BRCA2):c.8368A>T (p.Thr2790Ser) rs80359081
NM_000059.4(BRCA2):c.8380T>A (p.Phe2794Ile) rs1566248770
NM_000059.4(BRCA2):c.838A>G (p.Lys280Glu) rs80359085
NM_000059.4(BRCA2):c.8393C>G (p.Pro2798Arg) rs276174906
NM_000059.4(BRCA2):c.8419T>C (p.Ser2807Pro) rs1555287637
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe) rs80359094
NM_000059.4(BRCA2):c.8455G>A (p.Asp2819Asn) rs1479448614
NM_000059.4(BRCA2):c.8462T>C (p.Ile2821Thr) rs80359096
NM_000059.4(BRCA2):c.8474C>T (p.Ala2825Val) rs2072823455
NM_000059.4(BRCA2):c.8485C>A (p.Gln2829Lys) rs80359099
NM_000059.4(BRCA2):c.8487+14T>A rs767591414
NM_000059.4(BRCA2):c.8525G>T (p.Arg2842Leu) rs80359105
NM_000059.4(BRCA2):c.8531A>C (p.Glu2844Ala) rs900871740
NM_000059.4(BRCA2):c.8541A>C (p.Glu2847Asp) rs1555287759
NM_000059.4(BRCA2):c.8588_8590dup (p.Glu2863dup) rs730881616
NM_000059.4(BRCA2):c.860T>C (p.Met287Thr) rs2072398884
NM_000059.4(BRCA2):c.8612A>C (p.Glu2871Ala) rs1566249398
NM_000059.4(BRCA2):c.8632+12_8632+18delinsATATA rs1555287796
NM_000059.4(BRCA2):c.8632+13A>G rs1566249453
NM_000059.4(BRCA2):c.8632G>A (p.Glu2878Lys) rs398122710
NM_000059.4(BRCA2):c.8632G>C (p.Glu2878Gln) rs398122710
NM_000059.4(BRCA2):c.8633-11_8633-3del rs2072873847
NM_000059.4(BRCA2):c.8633-17T>C rs1566251324
NM_000059.4(BRCA2):c.8633-19_8633-17del rs770871854
NM_000059.4(BRCA2):c.8633-3T>A rs1283205861
NM_000059.4(BRCA2):c.8633-4T>A rs397507407
NM_000059.4(BRCA2):c.8678A>G (p.Gln2893Arg) rs1555288153
NM_000059.4(BRCA2):c.8678A>T (p.Gln2893Leu)
NM_000059.4(BRCA2):c.8690C>G (p.Ala2897Gly) rs1555288157
NM_000059.4(BRCA2):c.8699A>T (p.Asp2900Val) rs398122712
NM_000059.4(BRCA2):c.8704G>A (p.Ala2902Thr) rs1555288163
NM_000059.4(BRCA2):c.8735C>T (p.Ala2912Val) rs2072876151
NM_000059.4(BRCA2):c.8744C>T (p.Ala2915Val) rs1310128359
NM_000059.4(BRCA2):c.8754+18C>T rs768949172
NM_000059.4(BRCA2):c.8767G>A (p.Glu2923Lys) rs1334458965
NM_000059.4(BRCA2):c.8771A>G (p.Glu2924Gly) rs876658844
NM_000059.4(BRCA2):c.8774A>G (p.Gln2925Arg) rs80359135
NM_000059.4(BRCA2):c.8800C>A (p.Gln2934Lys) rs2137619340
NM_000059.4(BRCA2):c.8808G>C (p.Leu2936Phe) rs80359138
NM_000059.4(BRCA2):c.880G>A (p.Glu294Lys) rs397508009
NM_000059.4(BRCA2):c.8825C>A (p.Ala2942Asp) rs373227180
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.4(BRCA2):c.8834A>G (p.Gln2945Arg) rs587781800
NM_000059.4(BRCA2):c.8878C>A (p.Gln2960Lys) rs80359140
NM_000059.4(BRCA2):c.8891G>C (p.Arg2964Thr) rs1555288392
NM_000059.4(BRCA2):c.8905G>T (p.Val2969Leu) rs59004709
NM_000059.4(BRCA2):c.8923G>A (p.Val2975Ile) rs1006688520
NM_000059.4(BRCA2):c.8928C>G (p.Ser2976Arg) rs771267741
NM_000059.4(BRCA2):c.8952A>G (p.Ser2984=) rs876660709
NM_000059.4(BRCA2):c.8953+5G>C rs397508023
NM_000059.4(BRCA2):c.8953+8T>A rs1566252871
NM_000059.4(BRCA2):c.8954-13T>C rs398122717
NM_000059.4(BRCA2):c.8955T>C (p.Val2985=) rs2072907140
NM_000059.4(BRCA2):c.8957T>C (p.Ile2986Thr) rs431825372
NM_000059.4(BRCA2):c.8975_8976insTGATTT (p.Pro2992_Ser2993insAspLeu) rs1566253060
NM_000059.4(BRCA2):c.9016T>G (p.Tyr3006Asp) rs397507416
NM_000059.4(BRCA2):c.901G>A (p.Asp301Asn) rs1555281626
NM_000059.4(BRCA2):c.9032T>G (p.Leu3011Arg) rs80359155
NM_000059.4(BRCA2):c.9037A>G (p.Thr3013Ala) rs1555288470
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu) rs587781497
NM_000059.4(BRCA2):c.9049A>G (p.Lys3017Glu) rs1555288473
NM_000059.4(BRCA2):c.9052_9057del (p.3015KS[2]) rs786202063
NM_000059.4(BRCA2):c.9061G>A (p.Glu3021Lys) rs1182648647
NM_000059.4(BRCA2):c.9073A>G (p.Ile3025Val) rs879255470
NM_000059.4(BRCA2):c.9089C>G (p.Thr3030Arg) rs587781792
NM_000059.4(BRCA2):c.9097A>C (p.Thr3033Pro) rs766308212
NM_000059.4(BRCA2):c.9113_9115dup (p.Leu3038dup) rs80359749
NM_000059.4(BRCA2):c.9117+12T>A rs1212956665
NM_000059.4(BRCA2):c.9117G>C (p.Pro3039=) rs28897756
NM_000059.4(BRCA2):c.9117G>T (p.Pro3039=) rs28897756
NM_000059.4(BRCA2):c.9118-14T>C rs81002815
NM_000059.4(BRCA2):c.9118-6C>T rs81002890
NM_000059.4(BRCA2):c.9160C>T (p.Pro3054Ser) rs786204070
NM_000059.4(BRCA2):c.9161C>T (p.Pro3054Leu) rs80359172
NM_000059.4(BRCA2):c.9177A>C (p.Lys3059Asn) rs201561974
NM_000059.4(BRCA2):c.9190G>T (p.Asp3064Tyr) rs80359177
NM_000059.4(BRCA2):c.9215T>A (p.Val3072Glu) rs80359185
NM_000059.4(BRCA2):c.9232G>T (p.Val3078Phe) rs1593938201
NM_000059.4(BRCA2):c.9256+8A>G rs1312250808
NM_000059.4(BRCA2):c.9257-10del rs276174919
NM_000059.4(BRCA2):c.9257-12T>C rs2137651662
NM_000059.4(BRCA2):c.9275A>T (p.Tyr3092Phe) rs80359195
NM_000059.4(BRCA2):c.9302T>C (p.Leu3101Pro) rs28897758
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg) rs276174923
NM_000059.4(BRCA2):c.9347C>G (p.Pro3116Arg) rs1220080934
NM_000059.4(BRCA2):c.9350A>G (p.His3117Arg) rs80359206
NM_000059.4(BRCA2):c.9352A>C (p.Met3118Leu) rs1566258951
NM_000059.4(BRCA2):c.9365C>T (p.Ala3122Val) rs571971903
NM_000059.4(BRCA2):c.9371A>G (p.Asn3124Ser) rs28897759
NM_000059.4(BRCA2):c.9409A>T (p.Thr3137Ser) rs746036918
NM_000059.4(BRCA2):c.9542T>G (p.Met3181Arg) rs80359225
NM_000059.4(BRCA2):c.9544C>T (p.His3182Tyr) rs2073040551
NM_000059.4(BRCA2):c.9555T>G (p.His3185Gln) rs1593200915
NM_000059.4(BRCA2):c.9577A>G (p.Thr3193Ala) rs2073041117
NM_000059.4(BRCA2):c.9617A>C (p.Gln3206Pro) rs397507433
NM_000059.4(BRCA2):c.9625C>A (p.Pro3209Thr)
NM_000059.4(BRCA2):c.9637A>G (p.Asn3213Asp) rs80359235
NM_000059.4(BRCA2):c.9649-16T>G rs2137662424
NM_000059.4(BRCA2):c.9649-17T>C rs1566260726
NM_000059.4(BRCA2):c.9649-6del rs276174929
NM_000059.4(BRCA2):c.9651G>A (p.Met3217Ile) rs431825379
NM_000059.4(BRCA2):c.967G>A (p.Val323Ile) rs1566222487
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775
NM_000059.4(BRCA2):c.9700A>G (p.Met3234Val) rs730881574
NM_000059.4(BRCA2):c.9710G>A (p.Arg3237Lys) rs730881575
NM_000059.4(BRCA2):c.971G>A (p.Arg324Lys) rs397507435
NM_000059.4(BRCA2):c.9748T>A (p.Ser3250Thr) rs1173590589
NM_000059.4(BRCA2):c.9874C>G (p.Pro3292Ala) rs876660917
NM_000059.4(BRCA2):c.9898C>T (p.Pro3300Ser) rs770868371
NM_000059.4(BRCA2):c.9901C>T (p.Pro3301Ser) rs1566261153
NM_000059.4(BRCA2):c.9906_9907delinsTT (p.Arg3302_Ser3303delinsSerCys) rs876659538
NM_000059.4(BRCA2):c.9913G>A (p.Gly3305Ser) rs587782859
NM_000059.4(BRCA2):c.9936A>G (p.Ile3312Met) rs80359255
NM_000059.4(BRCA2):c.9944_9948del (p.Lys3315fs) rs2137665218
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs) rs431825381
NM_000059.4(BRCA2):c.9956C>A (p.Ser3319Tyr)
NM_000059.4(BRCA2):c.9971C>T (p.Pro3324Leu) rs1593202112
NM_000059.4(BRCA2):c.9981A>T (p.Lys3327Asn) rs587782098
NM_000059.4(BRCA2):c.9989A>T (p.Glu3330Val) rs2137665575
NM_000059.4(BRCA2):c.9997_9998del (p.Leu3333fs) rs730881621
NM_000061.3(BTK):c.141+5G>C rs1927165677
NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000061.3(BTK):c.1852A>G (p.Arg618Gly) rs1569290824
NM_000061.3(BTK):c.294C>A (p.Phe98Leu) rs1927036921
NM_000061.3(BTK):c.310-8C>A rs150930053
NM_000064.4(C3):c.1769G>C (p.Gly590Ala)
NM_000064.4(C3):c.555G>C (p.Gln185His)
NM_000069.3(CACNA1S):c.1694T>A (p.Leu565Gln) rs2102142533
NM_000069.3(CACNA1S):c.185T>C (p.Phe62Ser)
NM_000069.3(CACNA1S):c.2658-14T>C
NM_000069.3(CACNA1S):c.3256-13G>T
NM_000069.3(CACNA1S):c.3287G>T (p.Arg1096Leu) rs142102094
NM_000069.3(CACNA1S):c.356G>A (p.Arg119His) rs749588662
NM_000069.3(CACNA1S):c.3609+1G>A
NM_000069.3(CACNA1S):c.4786G>T (p.Gly1596Ter) rs751048080
NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter) rs550371466
NM_000070.3(CAPN3):c.1191C>G (p.Phe397Leu)
NM_000070.3(CAPN3):c.1336G>A (p.Gly446Ser) rs886042857
NM_000070.3(CAPN3):c.1834A>C (p.Asn612His)
NM_000070.3(CAPN3):c.2184+21G>A
NM_000070.3(CAPN3):c.2443C>G (p.Leu815Val)
NM_000070.3(CAPN3):c.397G>A (p.Ala133Thr) rs946415346
NM_000070.3(CAPN3):c.535G>A (p.Asp179Asn)
NM_000070.3(CAPN3):c.575C>G (p.Thr192Ser)
NM_000070.3(CAPN3):c.638A>G (p.His213Arg) rs768447053
NM_000071.3(CBS):c.1039G>T (p.Gly347Cys)
NM_000071.3(CBS):c.1096G>A (p.Glu366Lys)
NM_000071.3(CBS):c.1346T>G (p.Val449Gly)
NM_000071.3(CBS):c.1471C>T (p.Arg491Cys)
NM_000071.3(CBS):c.233C>G (p.Pro78Arg) rs786204608
NM_000071.3(CBS):c.241C>G (p.Leu81Val)
NM_000071.3(CBS):c.306G>C (p.Lys102Asn) rs786204609
NM_000071.3(CBS):c.491G>A (p.Arg164His)
NM_000071.3(CBS):c.844C>T (p.Pro282Ser) rs1057518515
NM_000071.3(CBS):c.[233C>G;306G>C]
NM_000073.3(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe) rs1591284990
NM_000073.3(CD3G):c.431A>G (p.Gln144Arg) rs2134070842
NM_000074.3(CD40LG):c.335A>G (p.Glu112Gly)
NM_000074.3(CD40LG):c.429A>C (p.Lys143Asn) rs1569377744
NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del) rs749094206
NM_000075.4(CDK4):c.156C>G (p.Ser52Arg) rs1955237401
NM_000075.4(CDK4):c.217C>T (p.Arg73Trp) rs1437365423
NM_000075.4(CDK4):c.262A>C (p.Lys88Gln) rs2140387459
NM_000075.4(CDK4):c.376A>G (p.Arg126Gly) rs1565806573
NM_000075.4(CDK4):c.632A>C (p.Lys211Thr) rs765656720
NM_000075.4(CDK4):c.719G>C (p.Arg240Pro) rs531817742
NM_000075.4(CDK4):c.767C>T (p.Pro256Leu) rs1234167326
NM_000077.5(CDKN2A):c.150G>T (p.Gln50His) rs1057519882
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val) rs372266620
NM_000077.5(CDKN2A):c.198C>G (p.His66Gln) rs374984975
NM_000077.5(CDKN2A):c.203C>G (p.Ala68Gly) rs1060501260
NM_000077.5(CDKN2A):c.249C>A (p.His83Gln) rs34968276
NM_000077.5(CDKN2A):c.253G>T (p.Ala85Ser) rs878853646
NM_000077.5(CDKN2A):c.361C>G (p.Leu121Val) rs142371511
NM_000077.5(CDKN2A):c.388C>A (p.Leu130Met) rs1060501261
NM_000077.5(CDKN2A):c.403G>A (p.Gly135Arg) rs1819686306
NM_000077.5(CDKN2A):c.434T>C (p.Ile145Thr) rs730881680
NM_000077.5(CDKN2A):c.461T>A (p.Ile154Asn) rs1554653284
NM_000077.5(CDKN2A):c.61G>T (p.Ala21Ser) rs1064793082
NM_000080.4(CHRNE):c.703ATC[1] (p.Ile236del) rs2151097320
NM_000080.4(CHRNE):c.914_915delinsTT (p.Gly305Val)
NM_000081.4(LYST):c.1691C>T (p.Ala564Val)
NM_000081.4(LYST):c.18C>G (p.Asn6Lys)
NM_000081.4(LYST):c.2304C>G (p.Cys768Trp)
NM_000081.4(LYST):c.2442T>A (p.Ser814Arg)
NM_000081.4(LYST):c.2570C>G (p.Ser857Cys)
NM_000081.4(LYST):c.3256G>A (p.Glu1086Lys)
NM_000081.4(LYST):c.5620T>C (p.Phe1874Leu)
NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)
NM_000081.4(LYST):c.7957A>G (p.Arg2653Gly)
NM_000081.4(LYST):c.9315+6T>C
NM_000081.4(LYST):c.9488A>G (p.Tyr3163Cys)
NM_000082.4(ERCC8):c.435_440delinsCAG (p.His148del)
NM_000083.3(CLCN1):c.1106A>C (p.His369Pro)
NM_000083.3(CLCN1):c.1363A>T (p.Asn455Tyr)
NM_000083.3(CLCN1):c.1697C>T (p.Ala566Val) rs2116373070
NM_000083.3(CLCN1):c.1879A>C (p.Thr627Pro)
NM_000083.3(CLCN1):c.2533G>A (p.Gly845Ser)
NM_000083.3(CLCN1):c.566C>T (p.Ser189Phe) rs121912810
NM_000083.3(CLCN1):c.685G>A (p.Val229Met) rs761601545
NM_000083.3(CLCN1):c.696+6C>T
NM_000083.3(CLCN1):c.809G>A (p.Gly270Asp) rs1490537212
NM_000085.5(CLCNKB):c.1306A>T (p.Ile436Phe) rs200239825
NM_000085.5(CLCNKB):c.806C>G (p.Thr269Ser) rs2124096004
NM_000088.4(COL1A1):c.2451+14C>A
NM_000088.4(COL1A1):c.35T>G (p.Leu12Arg) rs1555575857
NM_000089.4(COL1A2):c.1886C>A (p.Ala629Asp)
NM_000089.4(COL1A2):c.2462_2464del (p.Pro821del)
NM_000089.4(COL1A2):c.2674-6G>C rs771442891
NM_000089.4(COL1A2):c.2713G>T (p.Ala905Ser) rs1344095248
NM_000090.4(COL3A1):c.1297G>A (p.Glu433Lys) rs150670470
NM_000090.4(COL3A1):c.1450G>A (p.Glu484Lys) rs1559056497
NM_000090.4(COL3A1):c.1509+7_1509+21del rs781662866
NM_000090.4(COL3A1):c.1661C>T (p.Pro554Leu) rs1688305869
NM_000090.4(COL3A1):c.2237C>G (p.Pro746Arg) rs2153503064
NM_000090.4(COL3A1):c.2362C>T (p.Pro788Ser) rs749803388
NM_000090.4(COL3A1):c.2500G>C (p.Gly834Arg) rs2153503381
NM_000090.4(COL3A1):c.2607+14C>T
NM_000090.4(COL3A1):c.2950G>A (p.Gly984Arg) rs2153503630
NM_000090.4(COL3A1):c.3201+20A>G rs2153503735
NM_000090.4(COL3A1):c.334-11C>G
NM_000090.4(COL3A1):c.343G>T (p.Gly115Cys) rs964468427
NM_000090.4(COL3A1):c.3740G>C (p.Ser1247Thr)
NM_000090.4(COL3A1):c.4205C>T (p.Ala1402Val)
NM_000090.4(COL3A1):c.448-6C>A rs751856761
NM_000090.4(COL3A1):c.554C>G (p.Pro185Arg) rs886038977
NM_000090.4(COL3A1):c.55A>G (p.Thr19Ala) rs1300339107
NM_000090.4(COL3A1):c.716C>A (p.Pro239His) rs1688155467
NM_000090.4(COL3A1):c.745-10T>C rs1048016555
NM_000090.4(COL3A1):c.76G>C (p.Glu26Gln) rs1687767912
NM_000090.4(COL3A1):c.79+7A>T rs1687768235
NM_000091.5(COL4A3):c.1364G>T (p.Gly455Val)
NM_000091.5(COL4A3):c.1617A>C (p.Glu539Asp) rs2071190170
NM_000091.5(COL4A3):c.1987C>G (p.Pro663Ala) rs747891356
NM_000091.5(COL4A3):c.2189G>C (p.Gly730Ala)
NM_000091.5(COL4A3):c.2210T>A (p.Leu737His) rs760719817
NM_000091.5(COL4A3):c.223C>A (p.Gln75Lys)
NM_000091.5(COL4A3):c.2434G>A (p.Gly812Ser)
NM_000091.5(COL4A3):c.2489-3C>T
NM_000091.5(COL4A3):c.2509C>A (p.Pro837Thr) rs2106163548
NM_000091.5(COL4A3):c.2522C>T (p.Pro841Leu)
NM_000091.5(COL4A3):c.2657-6C>T
NM_000091.5(COL4A3):c.26C>T (p.Pro9Leu)
NM_000091.5(COL4A3):c.2714C>T (p.Pro905Leu)
NM_000091.5(COL4A3):c.2935G>A (p.Gly979Ser) rs948395447
NM_000091.5(COL4A3):c.3312AAGTCCTGG[1] (p.1105SPG[1]) rs756539994
NM_000091.5(COL4A3):c.3337+3A>G
NM_000091.5(COL4A3):c.3974G>T (p.Gly1325Val)
NM_000091.5(COL4A3):c.3989T>C (p.Ile1330Thr)
NM_000091.5(COL4A3):c.4213G>C (p.Ala1405Pro)
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg) rs2073646176
NM_000091.5(COL4A3):c.4862C>T (p.Thr1621Met)
NM_000091.5(COL4A3):c.525G>T (p.Leu175Phe)
NM_000091.5(COL4A3):c.716G>C (p.Gly239Ala) rs1574699782
NM_000091.5(COL4A3):c.86A>G (p.Lys29Arg) rs999240932
NM_000092.5(COL4A4):c.-9T>C
NM_000092.5(COL4A4):c.1053C>A (p.His351Gln)
NM_000092.5(COL4A4):c.1629G>C (p.Lys543Asn)
NM_000092.5(COL4A4):c.16A>G (p.Ile6Val)
NM_000092.5(COL4A4):c.1738C>T (p.Pro580Ser)
NM_000092.5(COL4A4):c.2647C>T (p.Pro883Ser)
NM_000092.5(COL4A4):c.2932G>C (p.Gly978Arg)
NM_000092.5(COL4A4):c.3289+5A>G
NM_000092.5(COL4A4):c.3357G>C (p.Arg1119Ser)
NM_000092.5(COL4A4):c.3668C>T (p.Pro1223Leu)
NM_000092.5(COL4A4):c.3844G>T (p.Gly1282Trp) rs777134408
NM_000092.5(COL4A4):c.3923C>G (p.Pro1308Arg)
NM_000092.5(COL4A4):c.3973+17G>A
NM_000092.5(COL4A4):c.4063G>A (p.Gly1355Arg) rs1553624029
NM_000092.5(COL4A4):c.4067C>T (p.Pro1356Leu)
NM_000092.5(COL4A4):c.4315G>A (p.Gly1439Ser)
NM_000092.5(COL4A4):c.4851G>C (p.Met1617Ile)
NM_000092.5(COL4A4):c.953C>T (p.Ser318Phe)
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.5(COL5A1):c.2187+19G>A
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=) rs1554798918
NM_000093.5(COL5A1):c.2485-14T>C
NM_000093.5(COL5A1):c.277+15C>A
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser) rs765082093
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln) rs1838524385
NM_000093.5(COL5A1):c.401G>A (p.Arg134His) rs1442400098
NM_000093.5(COL5A1):c.4392+18T>C
NM_000093.5(COL5A1):c.4994A>T (p.Asp1665Val)
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)
NM_000094.4(COL7A1):c.1334G>A (p.Arg445Gln)
NM_000094.4(COL7A1):c.1612C>T (p.Arg538Cys)
NM_000094.4(COL7A1):c.2111T>A (p.Ile704Asn)
NM_000094.4(COL7A1):c.2239A>G (p.Thr747Ala)
NM_000094.4(COL7A1):c.2317C>A (p.Pro773Thr)
NM_000094.4(COL7A1):c.2333G>C (p.Arg778Pro)
NM_000094.4(COL7A1):c.2543T>G (p.Val848Gly)
NM_000094.4(COL7A1):c.256G>A (p.Asp86Asn)
NM_000094.4(COL7A1):c.2622C>A (p.His874Gln)
NM_000094.4(COL7A1):c.2697C>G (p.His899Gln)
NM_000094.4(COL7A1):c.4015G>C (p.Glu1339Gln)
NM_000094.4(COL7A1):c.4093G>T (p.Gly1365Trp)
NM_000094.4(COL7A1):c.4342-13G>A
NM_000094.4(COL7A1):c.4351G>A (p.Glu1451Lys)
NM_000094.4(COL7A1):c.4502G>C (p.Gly1501Ala)
NM_000094.4(COL7A1):c.4753C>T (p.Pro1585Ser)
NM_000094.4(COL7A1):c.4786C>T (p.Pro1596Ser)
NM_000094.4(COL7A1):c.5333A>T (p.Asp1778Val)
NM_000094.4(COL7A1):c.5630G>A (p.Arg1877His)
NM_000094.4(COL7A1):c.5878G>C (p.Val1960Leu)
NM_000094.4(COL7A1):c.6257C>T (p.Pro2086Leu)
NM_000094.4(COL7A1):c.6457-13C>T
NM_000094.4(COL7A1):c.6818G>A (p.Ser2273Asn)
NM_000094.4(COL7A1):c.6946G>A (p.Gly2316Arg) rs1575430201
NM_000094.4(COL7A1):c.7420C>T (p.Arg2474Cys)
NM_000094.4(COL7A1):c.7758+15A>T
NM_000094.4(COL7A1):c.846+18A>G
NM_000094.4(COL7A1):c.846G>A (p.Glu282=) rs770216458
NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe) rs903839030
NM_000095.3(COMP):c.762+13G>T
NM_000096.4(CP):c.1123T>C (p.Tyr375His) rs386134128
NM_000096.4(CP):c.1del (p.Met1*) rs750317184
NM_000098.3(CPT2):c.1822G>C (p.Asp608His) rs780286639
NM_000098.3(CPT2):c.49G>T (p.Gly17Cys) rs2100254762
NM_000098.3(CPT2):c.764A>G (p.Asp255Gly) rs199673903
NM_000101.4(CYBA):c.2T>C (p.Met1Thr)
NM_000101.4(CYBA):c.472_484del (p.Pro160fs) rs1272232395
NM_000101.4(CYBA):c.521delinsCGGC (p.Val174delinsAlaAla)
NM_000101.4(CYBA):c.74G>A (p.Gly25Asp) rs179363891
NM_000101.4(CYBA):c.74G>T (p.Gly25Val) rs179363891
NM_000102.4(CYP17A1):c.337G>A (p.Ala113Thr)
NM_000102.4(CYP17A1):c.484G>A (p.Gly162Arg)
NM_000102.4(CYP17A1):c.644T>G (p.Val215Gly) rs1428700861
NM_000102.4(CYP17A1):c.776T>C (p.Ile259Thr) rs1449519548
NM_000103.4(CYP19A1):c.1093C>T (p.Arg365Trp)
NM_000104.4(CYP1B1):c.1309C>G (p.Pro437Ala)
NM_000104.4(CYP1B1):c.284T>C (p.Val95Ala)
NM_000104.4(CYP1B1):c.31T>C (p.Trp11Arg)
NM_000104.4(CYP1B1):c.343G>C (p.Ala115Pro)
NM_000104.4(CYP1B1):c.350G>A (p.Arg117Gln) rs1450783755
NM_000104.4(CYP1B1):c.732G>T (p.Met244Ile)
NM_000104.4(CYP1B1):c.883G>A (p.Ala295Thr) rs772259541
NM_000104.4(CYP1B1):c.958G>T (p.Val320Leu) rs72549382
NM_000107.3(DDB2):c.702+4C>T
NM_000110.4(DPYD):c.1537G>C (p.Ala513Pro)
NM_000110.4(DPYD):c.2907+9C>G
NM_000110.4(DPYD):c.3040_3041del (p.Lys1014fs)
NM_000110.4(DPYD):c.3067C>T (p.Pro1023Ser) rs114096998
NM_000110.4(DPYD):c.39+4C>G
NM_000110.4(DPYD):c.623G>A (p.Arg208Gln)
NM_000110.4(DPYD):c.710C>T (p.Pro237Leu)
NM_000110.4(DPYD):c.731A>C (p.Glu244Ala)
NM_000110.4(DPYD):c.967G>A (p.Ala323Thr)
NM_000111.3(SLC26A3):c.1181G>T (p.Ser394Ile)
NM_000111.3(SLC26A3):c.1372A>G (p.Ile458Val)
NM_000112.4(SLC26A2):c.1153G>A (p.Asp385Asn)
NM_000112.4(SLC26A2):c.2032_2033delinsCT (p.Gly678Leu) rs2113699627
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000122.2(ERCC3):c.172G>T (p.Ala58Ser) rs587778277
NM_000123.4(ERCC5):c.3021dup (p.Lys1008Ter)
NM_000123.4(ERCC5):c.3188_3192del (p.Thr1063fs) rs2140543372
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter) rs9514067
NM_000123.4(ERCC5):c.3256G>A (p.Gly1086Arg)
NM_000123.4(ERCC5):c.3556dup (p.Thr1186fs) rs769870504
NM_000123.4(ERCC5):c.560A>C (p.Asp187Ala) rs2140523174
NM_000123.4(ERCC5):c.881-26T>G
NM_000124.4(ERCC6):c.1339C>T (p.Arg447Trp)
NM_000124.4(ERCC6):c.1762TGG[1] (p.Trp589del) rs760919459
NM_000124.4(ERCC6):c.2870T>G (p.Val957Gly)
NM_000124.4(ERCC6):c.3124C>T (p.Pro1042Ser) rs1347404070
NM_000126.4(ETFA):c.733G>A (p.Val245Ile)
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000128.4(F11):c.1106A>C (p.Tyr369Ser)
NM_000128.4(F11):c.1288G>T (p.Ala430Ser)
NM_000128.4(F11):c.1305-10T>A
NM_000128.4(F11):c.452A>G (p.Tyr151Cys) rs281875273
NM_000129.4(F13A1):c.1135G>C (p.Ala379Pro)
NM_000129.4(F13A1):c.1213G>A (p.Asp405Asn)
NM_000129.4(F13A1):c.1261G>A (p.Gly421Ser)
NM_000129.4(F13A1):c.1622G>A (p.Arg541Gln) rs367679357
NM_000129.4(F13A1):c.1796T>C (p.Leu599Pro)
NM_000129.4(F13A1):c.872C>G (p.Ser291Trp)
NM_000132.4(F8):c.241G>A (p.Ala81Thr)
NM_000132.4(F8):c.241G>T (p.Ala81Ser)
NM_000132.4(F8):c.5545T>A (p.Phe1849Ile)
NM_000132.4(F8):c.6010A>G (p.Thr2004Ala)
NM_000132.4(F8):c.602G>A (p.Gly201Glu)
NM_000132.4(F8):c.6077A>G (p.His2026Arg)
NM_000132.4(F8):c.6400T>C (p.Tyr2134His)
NM_000132.4(F8):c.6523_6525del (p.Tyr2175del) rs2072706332
NM_000132.4(F8):c.701C>G (p.Ser234Cys)
NM_000132.4(F8):c.766T>A (p.Tyr256Asn) rs1569559955
NM_000132.4(F8):c.839G>A (p.Gly280Asp)
NM_000133.4(F9):c.1105C>T (p.Leu369Phe) rs2148367939
NM_000133.4(F9):c.1148T>C (p.Leu383Pro) rs1387119011
NM_000133.4(F9):c.374G>A (p.Gly125Glu)
NM_000133.4(F9):c.392-7_392-4del rs2148361119
NM_000133.4(F9):c.424G>C (p.Glu142Gln)
NM_000133.4(F9):c.466T>C (p.Ser156Pro)
NM_000133.4(F9):c.682G>A (p.Val228Ile)
NM_000133.4(F9):c.971C>A (p.Pro324His)
NM_000133.4(F9):c.997C>T (p.Pro333Ser) rs2148367784
NM_000135.4(FANCA):c.1715+8G>A rs1209332039
NM_000135.4(FANCA):c.1871C>T (p.Ala624Val) rs146491000
NM_000135.4(FANCA):c.199C>A (p.Pro67Thr) rs575469396
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.3547T>G (p.Cys1183Gly) rs763856094
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr) rs765162125
NM_000135.4(FANCA):c.4309C>T (p.Gln1437Ter)
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val) rs550462055
NM_000136.3(FANCC):c.1310A>C (p.Gln437Pro) rs912537449
NM_000136.3(FANCC):c.1534-5del rs748342368
NM_000136.3(FANCC):c.3G>A (p.Met1Ile) rs1368374192
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe) rs1800364
NM_000136.3(FANCC):c.592C>T (p.Pro198Ser) rs2135427761
NM_000137.4(FAH):c.648C>G (p.Ile216Met) rs147016995
NM_000138.5(FBN1):c.1036T>C (p.Ser346Pro) rs727504361
NM_000138.5(FBN1):c.10G>A (p.Gly4Arg) rs1890263469
NM_000138.5(FBN1):c.1147+19A>G rs369942195
NM_000138.5(FBN1):c.1147+4A>G rs2043844451
NM_000138.5(FBN1):c.1175C>G (p.Pro392Arg) rs534127494
NM_000138.5(FBN1):c.1348A>G (p.Thr450Ala) rs1566916727
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.1427G>T (p.Cys476Phe) rs2043792070
NM_000138.5(FBN1):c.1513A>G (p.Ile505Val) rs2043778389
NM_000138.5(FBN1):c.1526G>T (p.Gly509Val) rs2141327790
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe) rs1060501036
NM_000138.5(FBN1):c.1540C>G (p.Gln514Glu)
NM_000138.5(FBN1):c.164+4A>G rs1890257515
NM_000138.5(FBN1):c.1714+5T>C rs2043745384
NM_000138.5(FBN1):c.1723G>A (p.Glu575Lys) rs1259811604
NM_000138.5(FBN1):c.1751A>G (p.Asn584Ser) rs2043732580
NM_000138.5(FBN1):c.1972C>T (p.Arg658Trp) rs751517759
NM_000138.5(FBN1):c.208G>A (p.Gly70Arg) rs2044669023
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2179T>G (p.Cys727Gly) rs1064794025
NM_000138.5(FBN1):c.2287T>C (p.Cys763Arg) rs1555399361
NM_000138.5(FBN1):c.2422A>G (p.Ile808Val)
NM_000138.5(FBN1):c.248-17C>G
NM_000138.5(FBN1):c.2508T>A (p.Ser836Arg) rs193922190
NM_000138.5(FBN1):c.2545A>G (p.Ile849Val) rs2043596507
NM_000138.5(FBN1):c.2621A>G (p.Gln874Arg) rs2043595247
NM_000138.5(FBN1):c.2677+11C>T
NM_000138.5(FBN1):c.2729-17dup rs35314876
NM_000138.5(FBN1):c.2804G>A (p.Cys935Tyr) rs1566910918
NM_000138.5(FBN1):c.2813C>T (p.Pro938Leu) rs758257941
NM_000138.5(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg) rs794728200
NM_000138.5(FBN1):c.3082+9T>C rs746303949
NM_000138.5(FBN1):c.3144T>A (p.Ile1048=) rs112384723
NM_000138.5(FBN1):c.3208+13G>A rs2043527577
NM_000138.5(FBN1):c.3209-13T>C
NM_000138.5(FBN1):c.3586G>A (p.Val1196Ile) rs1352765609
NM_000138.5(FBN1):c.3590-11A>G rs777262423
NM_000138.5(FBN1):c.3609A>G (p.Ile1203Met)
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3800A>G (p.Asp1267Gly)
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.391G>A (p.Asp131Asn) rs2044550847
NM_000138.5(FBN1):c.4057G>T (p.Gly1353Trp) rs187177496
NM_000138.5(FBN1):c.4174A>G (p.Lys1392Glu) rs756683929
NM_000138.5(FBN1):c.4190G>T (p.Gly1397Val) rs747867726
NM_000138.5(FBN1):c.4409G>T (p.Cys1470Phe) rs2043365537
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.4550T>C (p.Phe1517Ser) rs2043340822
NM_000138.5(FBN1):c.4570G>A (p.Val1524Ile) rs2043340600
NM_000138.5(FBN1):c.4601G>C (p.Cys1534Ser) rs112559031
NM_000138.5(FBN1):c.4714A>G (p.Thr1572Ala) rs1597548645
NM_000138.5(FBN1):c.4940A>T (p.Asp1647Val) rs1566903908
NM_000138.5(FBN1):c.4942+3A>G rs2043313628
NM_000138.5(FBN1):c.4954T>C (p.Cys1652Arg) rs1566903565
NM_000138.5(FBN1):c.4981G>A (p.Gly1661Arg) rs2043300995
NM_000138.5(FBN1):c.5279A>G (p.Tyr1760Cys) rs1597543452
NM_000138.5(FBN1):c.53C>T (p.Ala18Val)
NM_000138.5(FBN1):c.5494C>A (p.Arg1832Ser) rs1566900499
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr) rs1555395989
NM_000138.5(FBN1):c.5594G>C (p.Cys1865Ser) rs2141252190
NM_000138.5(FBN1):c.5674A>G (p.Ile1892Val) rs760170973
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.5(FBN1):c.5788+4C>T rs577301285
NM_000138.5(FBN1):c.5901T>A (p.Asp1967Glu) rs1566898401
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.608T>C (p.Val203Ala) rs2141358343
NM_000138.5(FBN1):c.6106T>C (p.Phe2036Leu) rs2043116963
NM_000138.5(FBN1):c.6145A>C (p.Ser2049Arg) rs1597529691
NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr) rs1555395206
NM_000138.5(FBN1):c.6541T>C (p.Cys2181Arg) rs1131691373
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly) rs1597522584
NM_000138.5(FBN1):c.6643C>A (p.Leu2215Met) rs921997271
NM_000138.5(FBN1):c.669G>A (p.Met223Ile) rs910928261
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6809G>A (p.Gly2270Asp) rs1566894274
NM_000138.5(FBN1):c.6866G>C (p.Cys2289Ser) rs1566894230
NM_000138.5(FBN1):c.6872-15A>G
NM_000138.5(FBN1):c.6997+10G>C rs2042997079
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7064G>A (p.Arg2355Lys) rs376372763
NM_000138.5(FBN1):c.7082C>G (p.Ser2361Trp) rs397515844
NM_000138.5(FBN1):c.718C>A (p.Arg240Ser) rs137854480
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7201G>T (p.Ala2401Ser) rs771260695
NM_000138.5(FBN1):c.7271_7273del (p.Ser2424del)
NM_000138.5(FBN1):c.7327G>A (p.Val2443Ile)
NM_000138.5(FBN1):c.736+4A>G
NM_000138.5(FBN1):c.737-19_737-16del rs748812494
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe) rs1555394398
NM_000138.5(FBN1):c.7496T>C (p.Leu2499Pro)
NM_000138.5(FBN1):c.7505A>T (p.Asn2502Ile) rs1555394243
NM_000138.5(FBN1):c.7542_7544dup (p.Gly2514_Phe2515insLeu)
NM_000138.5(FBN1):c.7577A>G (p.Asn2526Ser) rs794728336
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val) rs193922234
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.5(FBN1):c.7834_7839del (p.Leu2612_Ser2613del) rs2141215073
NM_000138.5(FBN1):c.7840G>A (p.Ala2614Thr) rs1280320763
NM_000138.5(FBN1):c.7861T>G (p.Ser2621Ala) rs2042899021
NM_000138.5(FBN1):c.7994A>G (p.Asn2665Ser) rs763173031
NM_000138.5(FBN1):c.8005G>A (p.Gly2669Ser) rs794728281
NM_000138.5(FBN1):c.8054A>G (p.His2685Arg) rs1555393666
NM_000138.5(FBN1):c.8227-8C>G rs2141210191
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000138.5(FBN1):c.82A>G (p.Asn28Asp) rs1555407418
NM_000138.5(FBN1):c.8326C>G (p.Arg2776Gly) rs137854466
NM_000138.5(FBN1):c.8480A>C (p.Tyr2827Ser) rs794728287
NM_000138.5(FBN1):c.8543A>G (p.Lys2848Arg) rs765839151
NM_000140.5(FECH):c.1264C>T (p.Gln422Ter)
NM_000140.5(FECH):c.502C>T (p.Pro168Ser) rs2122299647
NM_000141.5(FGFR2):c.181C>T (p.Arg61Cys)
NM_000141.5(FGFR2):c.202G>A (p.Ala68Thr)
NM_000142.5(FGFR3):c.1316G>C (p.Arg439Pro)
NM_000142.5(FGFR3):c.1411dup (p.Arg471fs)
NM_000142.5(FGFR3):c.1549A>G (p.Lys517Glu)
NM_000142.5(FGFR3):c.1630G>T (p.Ala544Ser)
NM_000142.5(FGFR3):c.2031-4G>A
NM_000142.5(FGFR3):c.2334del (p.Ser779fs)
NM_000143.4(FH):c.1153_1155dup (p.Ala385_Gln386insAla)
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000143.4(FH):c.1495G>A (p.Glu499Lys) rs750838853
NM_000143.4(FH):c.988A>C (p.Thr330Pro) rs776313200
NM_000146.4(FTL):c.213C>A (p.Asn71Lys)
NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs) rs1186488065
NM_000147.5(FUCA1):c.524+5G>A
NM_000147.5(FUCA1):c.989G>A (p.Ser330Asn) rs950763723
NM_000151.4(G6PC1):c.364G>A (p.Gly122Ser)
NM_000151.4(G6PC1):c.46A>G (p.Thr16Ala)
NM_000152.5(GAA):c.-32-13T>C rs386834236
NM_000152.5(GAA):c.1000G>T (p.Gly334Cys) rs886042960
NM_000152.5(GAA):c.1087A>G (p.Met363Val) rs2039148780
NM_000152.5(GAA):c.1239C>G (p.Asp413Glu)
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1461C>G (p.Phe487Leu)
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe) rs576056187
NM_000152.5(GAA):c.1724A>T (p.Tyr575Phe)
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys) rs1428112902
NM_000152.5(GAA):c.1952G>T (p.Gly651Val) rs939350425
NM_000152.5(GAA):c.1976T>C (p.Val659Ala)
NM_000152.5(GAA):c.2012T>A (p.Met671Lys)
NM_000152.5(GAA):c.2051C>A (p.Pro684Gln) rs147327209
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2294G>A (p.Gly765Asp) rs1292367136
NM_000152.5(GAA):c.2481+4C>G
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.623T>C (p.Leu208Pro) rs2039071572
NM_000152.5(GAA):c.693G>T (p.Leu231=)
NM_000152.5(GAA):c.710C>A (p.Ala237Glu)
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.860C>T (p.Pro287Leu) rs1289916206
NM_000153.3(GALC):c.-66G>C
NM_000153.4(GALC):c.-80_-75delATCAGC rs564526560
NM_000153.4(GALC):c.1065G>T (p.Trp355Cys)
NM_000153.4(GALC):c.1114G>T (p.Ala372Ser) rs759286485
NM_000153.4(GALC):c.1151T>C (p.Ile384Thr)
NM_000153.4(GALC):c.1162-4T>A rs774455523
NM_000153.4(GALC):c.1199C>T (p.Pro400Leu)
NM_000153.4(GALC):c.187_195+10dup
NM_000153.4(GALC):c.621G>A (p.Lys207=) rs1428763453
NM_000153.4(GALC):c.691G>A (p.Glu231Lys) rs542231350
NM_000153.4(GALC):c.757C>T (p.His253Tyr)
NM_000153.4(GALC):c.973A>G (p.Met325Val) rs772190761
NM_000154.1(GALK1):c.1108_1110delGAG
NM_000154.2(GALK1):c.505G>A (p.Val169Met) rs2143602929
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]
NM_000155.3(GALT):c.-839_-837delTTT rs549043849
NM_000155.4(GALT):c.1022T>C (p.Met341Thr) rs1248681332
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly) rs1821203474
NM_000155.4(GALT):c.1060-71dup rs56121779
NM_000155.4(GALT):c.1094A>G (p.His365Arg) rs1821228599
NM_000155.4(GALT):c.140A>G (p.His47Arg) rs2132341581
NM_000155.4(GALT):c.143G>T (p.Arg48Leu)
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.285T>G (p.Phe95Leu) rs111033668
NM_000155.4(GALT):c.313G>A (p.Asp105Asn) rs1564100971
NM_000155.4(GALT):c.346C>A (p.Leu116Ile) rs1554709252
NM_000155.4(GALT):c.413C>G (p.Thr138Arg) rs111033686
NM_000155.4(GALT):c.502_504del (p.Val168del) rs1219976432
NM_000155.4(GALT):c.554C>T (p.Pro185Leu) rs111033722
NM_000155.4(GALT):c.688-12_688-11del rs777929860
NM_000155.4(GALT):c.754C>A (p.Gln252Lys) rs1564101859
NM_000155.4(GALT):c.779_790del (p.His260_Arg263del) rs111033762
NM_000155.4(GALT):c.793C>G (p.Pro265Ala) rs111033764
NM_000155.4(GALT):c.815G>A (p.Arg272His) rs111033831
NM_000155.4(GALT):c.815G>T (p.Arg272Leu)
NM_000155.4(GALT):c.820+18G>A rs1564101965
NM_000155.4(GALT):c.833T>C (p.Ile278Thr) rs111033778
NM_000155.4(GALT):c.904+7C>A rs1564102104
NM_000156.6(GAMT):c.172TCC[3] (p.Ser59dup) rs768895098
NM_000156.6(GAMT):c.268G>A (p.Glu90Lys) rs1569006974
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp) rs760101382
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg) rs1600158346
NM_000156.6(GAMT):c.578A>G (p.Gln193Arg) rs2082607477
NM_000156.6(GAMT):c.59G>T (p.Trp20Leu) rs80338734
NM_000157.4(GBA1):c.1060G>C (p.Asp354His) rs398123526
NM_000157.4(GBA1):c.1103G>A (p.Arg368His)
NM_000157.4(GBA1):c.1263C>A (p.Asn421Lys) rs2148071759
NM_000157.4(GBA1):c.1275C>A (p.Asn425Lys) rs1026993108
NM_000157.4(GBA1):c.136A>G (p.Lys46Glu)
NM_000157.4(GBA1):c.1534A>T (p.Lys512Ter) rs1671660634
NM_000157.4(GBA1):c.232C>T (p.Arg78Cys)
NM_000157.4(GBA1):c.350T>C (p.Val117Ala)
NM_000157.4(GBA1):c.385G>A (p.Ala129Thr)
NM_000157.4(GBA1):c.469A>T (p.Ile157Phe)
NM_000157.4(GBA1):c.509G>A (p.Arg170His) rs80356763
NM_000157.4(GBA1):c.588G>T (p.Lys196Asn)
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.1237G>C (p.Asp413His) rs752711257
NM_000158.4(GBE1):c.1621A>T (p.Asn541Tyr)
NM_000159.4(GCDH):c.1000AAG[1] (p.Lys335del)
NM_000159.4(GCDH):c.1039C>T (p.Leu347Phe)
NM_000159.4(GCDH):c.169G>A (p.Glu57Lys)
NM_000159.4(GCDH):c.242C>T (p.Pro81Leu)
NM_000159.4(GCDH):c.280C>T (p.Arg94Trp) rs771602677
NM_000159.4(GCDH):c.319G>A (p.Gly107Ser)
NM_000159.4(GCDH):c.380C>T (p.Ala127Val)
NM_000159.4(GCDH):c.397G>T (p.Val133Leu) rs746388510
NM_000159.4(GCDH):c.531C>A (p.Phe177Leu)
NM_000159.4(GCDH):c.683G>T (p.Cys228Phe) rs1970675873
NM_000159.4(GCDH):c.797T>C (p.Met266Thr) rs771650894
NM_000159.4(GCDH):c.901G>A (p.Val301Met)
NM_000162.5(GCK):c.1012G>A (p.Val338Met)
NM_000162.5(GCK):c.1020-10C>A rs193922257
NM_000162.5(GCK):c.1033C>G (p.Arg345Gly) rs2096271919
NM_000162.5(GCK):c.1064T>C (p.Leu355Pro) rs1583592156
NM_000162.5(GCK):c.1130G>T (p.Arg377Leu) rs193922264
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly) rs193922271
NM_000162.5(GCK):c.1222G>A (p.Val408Met) rs1293307672
NM_000162.5(GCK):c.1298_1309del (p.Ser433_Ile436del)
NM_000162.5(GCK):c.1309A>C (p.Thr437Pro) rs2096270595
NM_000162.5(GCK):c.130G>T (p.Gly44Cys)
NM_000162.5(GCK):c.1331G>A (p.Gly444Asp)
NM_000162.5(GCK):c.167A>C (p.Lys56Thr)
NM_000162.5(GCK):c.179C>T (p.Thr60Ile) rs747783371
NM_000162.5(GCK):c.323A>G (p.Tyr108Cys)
NM_000162.5(GCK):c.350G>T (p.Gly117Val)
NM_000162.5(GCK):c.397T>C (p.Phe133Leu) rs2128822093
NM_000162.5(GCK):c.440G>A (p.Gly147Asp) rs193922296
NM_000162.5(GCK):c.457C>T (p.Pro153Ser) rs193922300
NM_000162.5(GCK):c.45G>A (p.Lys15=)
NM_000162.5(GCK):c.551T>C (p.Leu184Pro) rs2128821610
NM_000162.5(GCK):c.565A>G (p.Ile189Val)
NM_000162.5(GCK):c.567C>G (p.Ile189Met)
NM_000162.5(GCK):c.680-15C>A rs369345791
NM_000162.5(GCK):c.688T>C (p.Cys230Arg) rs794727839
NM_000162.5(GCK):c.691A>G (p.Asn231Asp) rs2128820674
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del) rs2096275478
NM_000162.5(GCK):c.823C>G (p.Arg275Gly)
NM_000162.5(GCK):c.864G>C (p.Leu288=) rs2128820056
NM_000163.5(GHR):c.910_911delinsA (p.Pro304fs)
NM_000165.5(GJA1):c.457C>T (p.Arg153Ter)
NM_000165.5(GJA1):c.887CTT[1] (p.Ser297del) rs976659652
NM_000166.6(GJB1):c.563CCGTCTTCA[1] (p.188TVF[1]) rs116840823
NM_000166.6(GJB1):c.658C>G (p.Arg220Gly) rs104894814
NM_000166.6(GJB1):c.705C>A (p.Phe235Leu) rs760150310
NM_000169.2(GLA):c.-79G>A rs1928609406
NM_000169.3(GLA):c.1000-14dup
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1116_1117delinsAT (p.Gly373Cys) rs1928127475
NM_000169.3(GLA):c.1244T>G (p.Leu415Arg) rs112341092
NM_000169.3(GLA):c.138C>G (p.His46Gln) rs869312253
NM_000169.3(GLA):c.151A>G (p.Met51Val)
NM_000169.3(GLA):c.167G>T (p.Cys56Phe) rs869312258
NM_000169.3(GLA):c.187T>C (p.Cys63Arg) rs1928578294
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.369+5G>T rs398123209
NM_000169.3(GLA):c.370G>T (p.Val124Phe)
NM_000169.3(GLA):c.409G>T (p.Val137Phe) rs1928326653
NM_000169.3(GLA):c.56T>A (p.Leu19Gln) rs1928592578
NM_000169.3(GLA):c.592_603del (p.Ile198_Ser201del) rs1928284093
NM_000169.3(GLA):c.604T>C (p.Cys202Arg) rs1569303843
NM_000169.3(GLA):c.639+852_639+855del rs782584102
NM_000169.3(GLA):c.639G>A (p.Lys213=) rs1928277930
NM_000169.3(GLA):c.640-336T>C
NM_000169.3(GLA):c.72G>C (p.Trp24Cys) rs869312392
NM_000169.3(GLA):c.887T>A (p.Met296Lys) rs869312442
NM_000169.3(GLA):c.890C>A (p.Ser297Tyr) rs28935489
NM_000169.3(GLA):c.913_945dup (p.Pro305_Asp315dup) rs2147471995
NM_000170.3(GLDC):c.1846A>G (p.Asn616Asp) rs2129831435
NM_000170.3(GLDC):c.2315+6T>C rs1817582202
NM_000170.3(GLDC):c.2606_2607delinsTA (p.Pro869Leu)
NM_000170.3(GLDC):c.2838+5G>A rs386833568
NM_000170.3(GLDC):c.2969A>C (p.Asp990Ala)
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys) rs386833584
NM_000170.3(GLDC):c.937G>T (p.Ala313Ser)
NM_000173.7(GP1BA):c.1202C>T (p.Thr401Ile)
NM_000173.7(GP1BA):c.1253C>G (p.Ala418Gly)
NM_000173.7(GP1BA):c.1406C>T (p.Thr469Ile)
NM_000173.7(GP1BA):c.1432T>G (p.Phe478Val)
NM_000173.7(GP1BA):c.1683G>T (p.Gln561His)
NM_000173.7(GP1BA):c.171C>A (p.Asn57Lys) rs1597638398
NM_000173.7(GP1BA):c.1774C>T (p.Arg592Trp)
NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg) rs1394634674
NM_000173.7(GP1BA):c.715A>G (p.Asn239Asp)
NM_000174.5(GP9):c.124G>A (p.Gly42Arg)
NM_000174.5(GP9):c.241G>A (p.Asp81Asn)
NM_000174.5(GP9):c.284A>G (p.Tyr95Cys) rs1946583076
NM_000178.4(GSS):c.1407C>A (p.Asp469Glu) rs1419704426
NM_000178.4(GSS):c.800G>A (p.Arg267Gln)
NM_000179.3(MSH6):c.-17C>G rs370816858
NM_000179.3(MSH6):c.-9G>A rs1558644641
NM_000179.3(MSH6):c.1001A>C (p.Lys334Thr) rs1558660066
NM_000179.3(MSH6):c.1006A>G (p.Thr336Ala) rs1572721235
NM_000179.3(MSH6):c.104C>T (p.Ala35Val) rs776547943
NM_000179.3(MSH6):c.1093T>C (p.Trp365Arg) rs752628520
NM_000179.3(MSH6):c.113C>T (p.Pro38Leu) rs1553408211
NM_000179.3(MSH6):c.1170T>A (p.Asp390Glu) rs55882234
NM_000179.3(MSH6):c.1175A>T (p.Asp392Val) rs1064794625
NM_000179.3(MSH6):c.1178C>T (p.Ala393Val) rs764110569
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr) rs754231971
NM_000179.3(MSH6):c.1201G>A (p.Asp401Asn) rs1669308138
NM_000179.3(MSH6):c.1220C>T (p.Thr407Ile) rs1114167754
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.3(MSH6):c.1513T>C (p.Tyr505His) rs1558661932
NM_000179.3(MSH6):c.1561A>C (p.Thr521Pro) rs587779916
NM_000179.3(MSH6):c.1631A>T (p.Glu544Val) rs1669354962
NM_000179.3(MSH6):c.1658C>G (p.Thr553Ser) rs1553413038
NM_000179.3(MSH6):c.1700A>G (p.Lys567Arg) rs1558662651
NM_000179.3(MSH6):c.1729C>G (p.Arg577Gly) rs542838372
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr) rs761033647
NM_000179.3(MSH6):c.1774G>A (p.Val592Ile) rs1558662912
NM_000179.3(MSH6):c.1844G>T (p.Cys615Phe) rs730881793
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys) rs772363120
NM_000179.3(MSH6):c.186_187inv (p.Ser63Ala)
NM_000179.3(MSH6):c.1871G>T (p.Gly624Val) rs763606858
NM_000179.3(MSH6):c.1876C>G (p.Gln626Glu) rs1553413253
NM_000179.3(MSH6):c.1936A>G (p.Lys646Glu) rs2104377347
NM_000179.3(MSH6):c.1945G>T (p.Asp649Tyr) rs1064793188
NM_000179.3(MSH6):c.1967C>T (p.Pro656Leu) rs1669401102
NM_000179.3(MSH6):c.19C>A (p.Leu7Met) rs1064795094
NM_000179.3(MSH6):c.19C>G (p.Leu7Val) rs1064795094
NM_000179.3(MSH6):c.2018C>T (p.Pro673Leu) rs864622085
NM_000179.3(MSH6):c.2053G>C (p.Gly685Arg) rs1553413427
NM_000179.3(MSH6):c.2108T>C (p.Met703Thr) rs1064793189
NM_000179.3(MSH6):c.2180C>A (p.Thr727Asn) rs767861096
NM_000179.3(MSH6):c.2240T>G (p.Leu747Arg) rs876660234
NM_000179.3(MSH6):c.2261C>A (p.Thr754Asn) rs1669440639
NM_000179.3(MSH6):c.2372G>A (p.Arg791His) rs755587950
NM_000179.3(MSH6):c.2415_2418delinsTTCT (p.Ile805_Ser806=) rs1669459551
NM_000179.3(MSH6):c.247G>A (p.Ala83Thr) rs755964436
NM_000179.3(MSH6):c.2541A>T (p.Glu847Asp) rs1553413887
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del) rs587782858
NM_000179.3(MSH6):c.260+11G>T rs550120121
NM_000179.3(MSH6):c.260+5C>T rs1440012800
NM_000179.3(MSH6):c.2633T>G (p.Val878Gly) rs2020912
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe) rs786202628
NM_000179.3(MSH6):c.2753A>G (p.His918Arg) rs754948438
NM_000179.3(MSH6):c.275_276inv (p.Pro92Leu)
NM_000179.3(MSH6):c.2850C>G (p.Ser950Arg) rs571394629
NM_000179.3(MSH6):c.2875C>A (p.Arg959Ser) rs751973865
NM_000179.3(MSH6):c.2956A>G (p.Thr986Ala) rs1553414327
NM_000179.3(MSH6):c.2960C>G (p.Thr987Ser) rs587779928
NM_000179.3(MSH6):c.2979A>T (p.Glu993Asp) rs370462886
NM_000179.3(MSH6):c.2983G>C (p.Glu995Gln) rs63750258
NM_000179.3(MSH6):c.3047C>T (p.Ala1016Val) rs587779929
NM_000179.3(MSH6):c.3068A>G (p.Glu1023Gly) rs1553414454
NM_000179.3(MSH6):c.3079G>C (p.Val1027Leu) rs876658397
NM_000179.3(MSH6):c.3101G>A (p.Arg1034Gln) rs181727939
NM_000179.3(MSH6):c.3104G>T (p.Arg1035Leu) rs730881801
NM_000179.3(MSH6):c.3220A>G (p.Met1074Val) rs730881804
NM_000179.3(MSH6):c.3253A>T (p.Thr1085Ser) rs751563328
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala) rs63750998
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000179.3(MSH6):c.328G>A (p.Val110Ile) rs876659374
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met) rs63750442
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu) rs1060502892
NM_000179.3(MSH6):c.3395T>C (p.Val1132Ala) rs1114167711
NM_000179.3(MSH6):c.3410T>C (p.Met1137Thr) rs1553331742
NM_000179.3(MSH6):c.3438+16A>G rs1469439866
NM_000179.3(MSH6):c.3459G>A (p.Met1153Ile) rs1553332160
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys) rs587779264
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.3(MSH6):c.3527G>A (p.Arg1176Lys) rs876661148
NM_000179.3(MSH6):c.3548T>A (p.Ile1183Lys) rs1459635476
NM_000179.3(MSH6):c.3574G>C (p.Val1192Leu) rs1669959178
NM_000179.3(MSH6):c.35C>T (p.Pro12Leu) rs760603184
NM_000179.3(MSH6):c.3602T>A (p.Leu1201His)
NM_000179.3(MSH6):c.3623C>T (p.Ser1208Phe) rs1572742021
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met) rs864622748
NM_000179.3(MSH6):c.3679_3690del (p.Ile1227_Ala1230del) rs2104538290
NM_000179.3(MSH6):c.3698A>G (p.Lys1233Arg) rs766557450
NM_000179.3(MSH6):c.3716T>C (p.Ile1239Thr) rs786203816
NM_000179.3(MSH6):c.3729ATT[1] (p.Leu1244del) rs876658650
NM_000179.3(MSH6):c.3730T>G (p.Leu1244Val) rs1060502938
NM_000179.3(MSH6):c.3740C>T (p.Thr1247Ile) rs786204182
NM_000179.3(MSH6):c.3752C>T (p.Ser1251Leu) rs1558392317
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala) rs202066386
NM_000179.3(MSH6):c.3759AGA[1] (p.Glu1254del) rs587779937
NM_000179.3(MSH6):c.3762_3763delinsTT (p.Glu1254_Asp1255delinsAspTyr) rs878853738
NM_000179.3(MSH6):c.37A>C (p.Lys13Gln) rs942019524
NM_000179.3(MSH6):c.3802-6_3802-4del rs587781932
NM_000179.3(MSH6):c.3804A>G (p.Ala1268=) rs1572746044
NM_000179.3(MSH6):c.3812_3838dup (p.Ser1279_Gln1280insLeuGluAsnGluCysGluAspProSer)
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu) rs63750143
NM_000179.3(MSH6):c.3843G>T (p.Glu1281Asp) rs864622384
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup) rs1553333420
NM_000179.3(MSH6):c.3850_3851insGGA (p.Ile1283_Thr1284insArg) rs1553333421
NM_000179.3(MSH6):c.3873G>C (p.Lys1291Asn) rs1670110153
NM_000179.3(MSH6):c.3917C>T (p.Ala1306Val)
NM_000179.3(MSH6):c.3940C>G (p.Gln1314Glu) rs1416452389
NM_000179.3(MSH6):c.3971A>C (p.Glu1324Ala) rs1114167738
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del) rs587779300
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln) rs184131049
NM_000179.3(MSH6):c.4044A>C (p.Glu1348Asp) rs786203740
NM_000179.3(MSH6):c.4081dup (p.Ter1361LeuextTer?) rs1060502898
NM_000179.3(MSH6):c.427G>A (p.Val143Ile) rs876661110
NM_000179.3(MSH6):c.457+3A>G rs1060502921
NM_000179.3(MSH6):c.457G>C (p.Gly153Arg) rs1060502885
NM_000179.3(MSH6):c.458-5del rs587781955
NM_000179.3(MSH6):c.458-9T>C rs1572716040
NM_000179.3(MSH6):c.583G>T (p.Val195Phe) rs267608038
NM_000179.3(MSH6):c.627+3G>A rs876659495
NM_000179.3(MSH6):c.627+7C>G rs1553411516
NM_000179.3(MSH6):c.661_672del (p.Glu221_Glu224del) rs1553412079
NM_000179.3(MSH6):c.67G>A (p.Ala23Thr) rs730881810
NM_000179.3(MSH6):c.680G>A (p.Ser227Asn) rs587779317
NM_000179.3(MSH6):c.686A>G (p.Glu229Gly) rs587782591
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu) rs762168786
NM_000179.3(MSH6):c.735A>G (p.Ile245Met) rs2104294265
NM_000179.3(MSH6):c.743G>A (p.Arg248Gln) rs764870249
NM_000179.3(MSH6):c.743G>C (p.Arg248Pro) rs764870249
NM_000179.3(MSH6):c.773T>C (p.Ile258Thr) rs1553412195
NM_000179.3(MSH6):c.802G>C (p.Asp268His) rs1553412217
NM_000179.3(MSH6):c.899G>C (p.Arg300Pro) rs55760494
NM_000179.3(MSH6):c.907A>T (p.Met303Leu) rs977576724
NM_000179.3(MSH6):c.936_941del (p.Arg312_Lys313del) rs1553412361
NM_000180.4(GUCY2D):c.2849C>T (p.Ala950Val) rs61750181
NM_000180.4(GUCY2D):c.514C>T (p.Leu172Phe)
NM_000181.4(GUSB):c.1016A>G (p.Asn339Ser)
NM_000181.4(GUSB):c.1135A>G (p.Asn379Asp)
NM_000181.4(GUSB):c.11G>A (p.Gly4Glu) rs1355624664
NM_000181.4(GUSB):c.151T>A (p.Phe51Ile) rs2116062709
NM_000181.4(GUSB):c.1534G>A (p.Gly512Arg) rs794726973
NM_000181.4(GUSB):c.1618G>A (p.Glu540Lys)
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)
NM_000181.4(GUSB):c.1786del (p.Gln596fs)
NM_000181.4(GUSB):c.956T>C (p.Phe319Ser) rs2115961823
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly) rs267599303
NM_000182.5(HADHA):c.2010_2012del (p.Asp670del)
NM_000186.4(CFH):c.1356T>G (p.Ser452Arg)
NM_000186.4(CFH):c.1832G>A (p.Cys611Tyr) rs2149108011
NM_000186.4(CFH):c.35T>C (p.Leu12Ser)
NM_000187.4(HGD):c.1040G>C (p.Arg347Pro)
NM_000187.4(HGD):c.342+3A>C
NM_000187.4(HGD):c.898G>T (p.Val300Leu)
NM_000188.3(HK1):c.1969G>A (p.Asp657Asn)
NM_000188.3(HK1):c.2662G>A (p.Val888Met) rs1564575554
NM_000188.3(HK1):c.907G>A (p.Gly303Arg)
NM_000190.4(HMBS):c.232A>G (p.Thr78Ala)
NM_000190.4(HMBS):c.38A>G (p.Glu13Gly)
NM_000196.4(HSD11B2):c.1082G>A (p.Arg361His)
NM_000198.4(HSD3B2):c.638G>C (p.Ser213Thr)
NM_000198.4(HSD3B2):c.946C>T (p.Arg316Cys)
NM_000199.5(SGSH):c.1060G>C (p.Ala354Pro)
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg) rs1131691434
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr) rs1385318543
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
NM_000202.8(IDS):c.1643T>A (p.Leu548Ter)
NM_000202.8(IDS):c.350C>T (p.Ser117Phe)
NM_000202.8(IDS):c.400G>A (p.Gly134Arg)
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
NM_000202.8(IDS):c.670G>A (p.Gly224Arg) rs2089450754
NM_000202.8(IDS):c.934G>A (p.Gly312Ser) rs903259179
NM_000203.5(IDUA):c.1040G>C (p.Ser347Thr) rs780106243
NM_000203.5(IDUA):c.1222G>A (p.Ala408Thr)
NM_000203.5(IDUA):c.1262T>C (p.Leu421Pro) rs2153022602
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu) rs1715210316
NM_000203.5(IDUA):c.1650G>A (p.Gln550=)
NM_000203.5(IDUA):c.457A>G (p.Lys153Glu) rs1715035049
NM_000203.5(IDUA):c.493+6C>G rs376738689
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg) rs753308650
NM_000203.5(IDUA):c.664G>T (p.Gly222Cys) rs1367413817
NM_000203.5(IDUA):c.713T>G (p.Leu238Arg)
NM_000204.5(CFI):c.502A>G (p.Arg168Gly)
NM_000204.5(CFI):c.622G>A (p.Asp208Asn)
NM_000206.3(IL2RG):c.395T>A (p.Leu132His) rs2092261278
NM_000206.3(IL2RG):c.484C>G (p.Leu162Val) rs2147749821
NM_000206.3(IL2RG):c.545G>A (p.Cys182Tyr) rs1064794027
NM_000206.3(IL2RG):c.694G>A (p.Gly232Arg) rs1569479909
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.97C>T (p.Pro33Ser)
NM_000212.3(ITGB3):c.1435G>A (p.Gly479Arg)
NM_000212.3(ITGB3):c.1984C>T (p.Arg662Cys) rs151219882
NM_000214.3(JAG1):c.601C>T (p.Arg201Cys) rs794727618
NM_000214.3(JAG1):c.733T>C (p.Cys245Arg) rs2122620282
NM_000215.4(JAK3):c.3085dup (p.Ser1029fs)
NM_000215.4(JAK3):c.3281del (p.Gln1094fs) rs2147669921
NM_000215.4(JAK3):c.874T>G (p.Phe292Val)
NM_000216.4(ANOS1):c.1428G>T (p.Glu476Asp)
NM_000217.3(KCNA1):c.607C>T (p.His203Tyr)
NM_000218.3(KCNQ1):c.1128G>T (p.Gln376His) rs1848577607
NM_000218.3(KCNQ1):c.1251+13C>A rs201364493
NM_000218.3(KCNQ1):c.130G>C (p.Gly44Arg)
NM_000218.3(KCNQ1):c.1394-6C>A rs759714698
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=) rs794728539
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) rs397508107
NM_000218.3(KCNQ1):c.557G>C (p.Gly186Ala) rs794728568
NM_000218.3(KCNQ1):c.922-3C>A rs794728515
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln) rs1568836235
NM_000228.3(LAMB3):c.1096C>T (p.Arg366Trp)
NM_000228.3(LAMB3):c.1485+4C>T
NM_000228.3(LAMB3):c.242G>C (p.Arg81Pro) rs978039540
NM_000228.3(LAMB3):c.2507C>T (p.Ala836Val) rs1666261853
NM_000228.3(LAMB3):c.3051+3G>A
NM_000228.3(LAMB3):c.3228+11G>A rs1420480218
NM_000228.3(LAMB3):c.3G>A (p.Met1Ile)
NM_000228.3(LAMB3):c.973T>C (p.Cys325Arg)
NM_000231.3(SGCG):c.212T>C (p.Leu71Ser)
NM_000231.3(SGCG):c.269T>C (p.Leu90Ser)
NM_000232.5(SGCB):c.12GGC[5] (p.Ala9dup) rs768838951
NM_000232.5(SGCB):c.416G>A (p.Gly139Asp) rs1560567653
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser) rs2228159
NM_000237.3(LPL):c.1094C>T (p.Ser365Phe)
NM_000237.3(LPL):c.1166A>C (p.Tyr389Ser)
NM_000237.3(LPL):c.1309G>A (p.Glu437Lys)
NM_000237.3(LPL):c.1394G>A (p.Cys465Tyr) rs2128839829
NM_000237.3(LPL):c.178G>T (p.Val60Leu)
NM_000237.3(LPL):c.250-8_250-6del
NM_000237.3(LPL):c.410G>A (p.Arg137Gln)
NM_000237.3(LPL):c.430-20A>C
NM_000237.3(LPL):c.464T>C (p.Leu155Pro)
NM_000237.3(LPL):c.89-3C>T
NM_000237.3(LPL):c.8G>A (p.Ser3Asn)
NM_000237.3(LPL):c.925C>T (p.Arg309Cys)
NM_000238.4(KCNH2):c.-9G>A rs1287855282
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.235G>A (p.Ala79Thr) rs794728494
NM_000238.4(KCNH2):c.2437G>A (p.Ala813Thr) rs1801032078
NM_000238.4(KCNH2):c.2482T>C (p.Cys828Arg) rs1801029729
NM_000238.4(KCNH2):c.2651A>G (p.Gln884Arg) rs1563149602
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) rs1554424085
NM_000238.4(KCNH2):c.499C>G (p.Leu167Val) rs1801462947
NM_000238.4(KCNH2):c.551GCGCGGGCG[4] (p.Gly189_Ala190insGlyAlaGlyGlyAlaGly) rs551056698
NM_000243.2(MEFV):c.[1105C>T;1223G>A]
NM_000243.3(MEFV):c.1105C>A (p.Pro369Thr) rs11466023
NM_000243.3(MEFV):c.1368A>C (p.Glu456Asp) rs1567233429
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu) rs104895173
NM_000243.3(MEFV):c.1425G>T (p.Gln475His) rs2141669170
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.1556A>T (p.Lys519Met)
NM_000243.3(MEFV):c.1727-2A>C
NM_000243.3(MEFV):c.1727-2A>G
NM_000243.3(MEFV):c.176C>G (p.Thr59Ser) rs1959116488
NM_000243.3(MEFV):c.1793-19A>G rs1958896562
NM_000243.3(MEFV):c.1883G>A (p.Arg628Lys)
NM_000243.3(MEFV):c.1895G>T (p.Gly632Val)
NM_000243.3(MEFV):c.1920C>G (p.Ile640Met) rs104895115
NM_000243.3(MEFV):c.1945C>T (p.Leu649Phe)
NM_000243.3(MEFV):c.2078T>A (p.Met693Lys) rs749052818
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu) rs545517350
NM_000243.3(MEFV):c.2177T>A (p.Val726Asp)
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys) rs104895171
NM_000243.3(MEFV):c.2332C>T (p.Gln778Ter) rs1366885918
NM_000243.3(MEFV):c.277+16C>A rs781767206
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg) rs104895103
NM_000243.3(MEFV):c.343C>A (p.Pro115Thr) rs147557169
NM_000243.3(MEFV):c.378G>T (p.Gly126=) rs777867857
NM_000243.3(MEFV):c.382G>C (p.Glu128Gln)
NM_000243.3(MEFV):c.436C>T (p.Gln146Ter) rs876660990
NM_000243.3(MEFV):c.539C>A (p.Pro180Gln) rs104895134
NM_000243.3(MEFV):c.623G>C (p.Ser208Thr) rs759326778
NM_000243.3(MEFV):c.662C>T (p.Pro221Leu) rs1431118968
NM_000243.3(MEFV):c.787C>G (p.Leu263Val) rs1567237104
NM_000243.3(MEFV):c.809A>G (p.Asn270Ser) rs1567237067
NM_000243.3(MEFV):c.910+4A>G rs1335042159
NM_000243.3(MEFV):c.[329T>C;442G>C]
NM_000245.4(MET):c.1306G>C (p.Glu436Gln) rs200740468
NM_000245.4(MET):c.1910C>A (p.Ser637Tyr) rs2116920387
NM_000245.4(MET):c.2209A>G (p.Ser737Gly) rs755571526
NM_000245.4(MET):c.3658G>C (p.Val1220Leu) rs121913670
NM_000249.4(MLH1):c.*6del
NM_000249.4(MLH1):c.-5C>T rs868796932
NM_000249.4(MLH1):c.104T>A (p.Met35Lys) rs63749906
NM_000249.4(MLH1):c.1072G>A (p.Glu358Lys) rs1553650621
NM_000249.4(MLH1):c.1078G>T (p.Val360Phe) rs878853775
NM_000249.4(MLH1):c.1081A>G (p.Lys361Glu) rs786201875
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del) rs876660192
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly) rs876658410
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg) rs759868546
NM_000249.4(MLH1):c.1136A>T (p.Tyr379Phe) rs143009528
NM_000249.4(MLH1):c.1172A>G (p.Gln391Arg) rs587782884
NM_000249.4(MLH1):c.117T>G (p.Cys39Trp) rs1305605404
NM_000249.4(MLH1):c.1225C>G (p.Gln409Glu) rs63751153
NM_000249.4(MLH1):c.125C>T (p.Ala42Val) rs587778901
NM_000249.4(MLH1):c.1284T>G (p.Asp428Glu)
NM_000249.4(MLH1):c.1410-3C>G rs2083690867
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly) rs147939838
NM_000249.4(MLH1):c.1443G>A (p.Met481Ile) rs1559558400
NM_000249.4(MLH1):c.1466A>C (p.Glu489Ala) rs1553652986
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg) rs63750226
NM_000249.4(MLH1):c.1501A>G (p.Ile501Val) rs748613173
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile) rs587779953
NM_000249.4(MLH1):c.1606C>T (p.Pro536Ser)
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp) rs267607843
NM_000249.4(MLH1):c.1657A>G (p.Thr553Ala) rs1559575796
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe) rs786202693
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val) rs1559578814
NM_000249.4(MLH1):c.1744C>T (p.Leu582Phe) rs63751713
NM_000249.4(MLH1):c.1766C>T (p.Ala589Val) rs63750016
NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn) rs587782621
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys) rs748851107
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>G (p.Pro640Ala) rs63749792
NM_000249.4(MLH1):c.1924C>G (p.Leu642Val) rs577217817
NM_000249.4(MLH1):c.1936T>C (p.Tyr646His) rs1553663884
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) rs587778964
NM_000249.4(MLH1):c.1985C>T (p.Thr662Ile) rs1559591605
NM_000249.4(MLH1):c.1993A>T (p.Asn665Tyr)
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser) rs587778972
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro) rs587779957
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
NM_000249.4(MLH1):c.2084C>G (p.Ser695Trp) rs63749995
NM_000249.4(MLH1):c.2103G>T (p.Gln701His) rs63750603
NM_000249.4(MLH1):c.210A>G (p.Lys70=) rs63751191
NM_000249.4(MLH1):c.2172_2173delinsAG (p.Arg725Gly) rs786203433
NM_000249.4(MLH1):c.2173C>T (p.Arg725Cys) rs138584384
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser) rs587779958
NM_000249.4(MLH1):c.253C>G (p.Leu85Val) rs63750659
NM_000249.4(MLH1):c.25C>T (p.Arg9Trp) rs587779000
NM_000249.4(MLH1):c.28C>T (p.Arg10Trp) rs1193754562
NM_000249.4(MLH1):c.302G>T (p.Gly101Val) rs267607727
NM_000249.4(MLH1):c.314C>T (p.Ala105Val) rs867655979
NM_000249.4(MLH1):c.37G>C (p.Glu13Gln) rs587779008
NM_000249.4(MLH1):c.380+10T>C rs1553641403
NM_000249.4(MLH1):c.453G>T (p.Thr151=) rs369521379
NM_000249.4(MLH1):c.589-9_589-6del rs587779026
NM_000249.4(MLH1):c.617C>T (p.Thr206Ile) rs2082346831
NM_000249.4(MLH1):c.677+26dup rs755619350
NM_000249.4(MLH1):c.767G>A (p.Cys256Tyr) rs876659662
NM_000249.4(MLH1):c.790C>G (p.His264Asp) rs63751597
NM_000249.4(MLH1):c.791-49_791-45del rs1559538882
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly) rs63751194
NM_000249.4(MLH1):c.830A>G (p.Glu277Gly)
NM_000249.4(MLH1):c.885-8C>T rs762836160
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly) rs63750993
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) rs876658657
NM_000251.3(MSH2):c.-8G>T rs1064795641
NM_000251.3(MSH2):c.1033_1034insTAT (p.Gln344_Trp345insLeu) rs587782374
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg) rs773177076
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp) rs1477257356
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr) rs63751604
NM_000251.3(MSH2):c.1079T>G (p.Leu360Trp) rs1558478097
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter) rs878853797
NM_000251.3(MSH2):c.1139T>C (p.Leu380Ser) rs730881755
NM_000251.3(MSH2):c.1191A>T (p.Gln397His) rs768694189
NM_000251.3(MSH2):c.1243C>T (p.Pro415Ser) rs35717997
NM_000251.3(MSH2):c.126C>G (p.Phe42Leu) rs730881766
NM_000251.3(MSH2):c.1303G>A (p.Val435Ile) rs876658240
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe) rs876658240
NM_000251.3(MSH2):c.1343C>G (p.Ser448Cys) rs587782524
NM_000251.3(MSH2):c.1346A>G (p.Lys449Arg) rs879254064
NM_000251.3(MSH2):c.1386+8A>G rs1211676028
NM_000251.3(MSH2):c.1391A>G (p.Glu464Gly) rs750737783
NM_000251.3(MSH2):c.1487TAA[1] (p.Ile497del) rs1666732788
NM_000251.3(MSH2):c.1523G>T (p.Gly508Val)
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile) rs373564353
NM_000251.3(MSH2):c.1593A>C (p.Lys531Asn) rs1553366599
NM_000251.3(MSH2):c.1607A>T (p.Asn536Ile) rs201722703
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser) rs749212640
NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr) rs587778524
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys) rs63750538
NM_000251.3(MSH2):c.1657A>G (p.Asn553Asp) rs772772789
NM_000251.3(MSH2):c.1661+5G>A rs267607972
NM_000251.3(MSH2):c.1662-7T>C rs1558514428
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln) rs587779102
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly) rs786201077
NM_000251.3(MSH2):c.1714_1715delinsAT (p.Glu572Ile) rs1558514635
NM_000251.3(MSH2):c.1778A>T (p.Gln593Leu) rs1558517711
NM_000251.3(MSH2):c.1786_1790delinsGG (p.Asn596_Asp597delinsGly) rs1558517764
NM_000251.3(MSH2):c.1805T>C (p.Leu602Pro) rs1553368561
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro) rs587779113
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln) rs28929483
NM_000251.3(MSH2):c.1935A>C (p.Gln645His) rs587780684
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser) rs185356145
NM_000251.3(MSH2):c.2005G>T (p.Gly669Cys) rs63751668
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp) rs1060502020
NM_000251.3(MSH2):c.212-4T>G rs1558456954
NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn) rs752883472
NM_000251.3(MSH2):c.215C>G (p.Ala72Gly) rs1558457009
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe) rs587781996
NM_000251.3(MSH2):c.2239A>G (p.Ile747Val) rs1553369652
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser) rs757268664
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg) rs1060502038
NM_000251.3(MSH2):c.2342C>T (p.Ala781Val)
NM_000251.3(MSH2):c.2354A>C (p.His785Pro) rs200252727
NM_000251.3(MSH2):c.2354A>G (p.His785Arg) rs200252727
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile) rs587781678
NM_000251.3(MSH2):c.2458+10A>G rs1269379998
NM_000251.3(MSH2):c.2458+5G>A rs1667404666
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.2515C>T (p.His839Tyr)
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly) rs373393954
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu) rs63750571
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del) rs587781278
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg) rs587780686
NM_000251.3(MSH2):c.2680dup (p.Met894fs) rs876658211
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala) rs1060502037
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile) rs267608022
NM_000251.3(MSH2):c.271G>T (p.Asp91Tyr) rs1558457163
NM_000251.3(MSH2):c.274C>A (p.Leu92Ile) rs587779154
NM_000251.3(MSH2):c.2754G>C (p.Lys918Asn) rs1553370893
NM_000251.3(MSH2):c.2756A>C (p.Asn919Thr)
NM_000251.3(MSH2):c.275T>A (p.Leu92His) rs1387584638
NM_000251.3(MSH2):c.283G>A (p.Val95Ile) rs1323488764
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln) rs587779970
NM_000251.3(MSH2):c.367-3T>C rs1558458845
NM_000251.3(MSH2):c.36G>C (p.Glu12Asp) rs1558451303
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg) rs730881768
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe) rs193096019
NM_000251.3(MSH2):c.433A>G (p.Ile145Val) rs876659264
NM_000251.3(MSH2):c.434T>C (p.Ile145Thr) rs774132884
NM_000251.3(MSH2):c.464T>G (p.Val155Gly) rs876658188
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala) rs765489269
NM_000251.3(MSH2):c.496G>T (p.Val166Leu) rs1672668358
NM_000251.3(MSH2):c.506T>C (p.Ile169Thr) rs1060502011
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro) rs63751291
NM_000251.3(MSH2):c.667C>G (p.Leu223Val) rs1558461660
NM_000251.3(MSH2):c.700A>T (p.Thr234Ser) rs1212577306
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter) rs587779976
NM_000251.3(MSH2):c.719A>G (p.Asp240Gly) rs878853822
NM_000251.3(MSH2):c.774G>T (p.Leu258Phe) rs755965129
NM_000251.3(MSH2):c.789T>G (p.Asn263Lys) rs878853823
NM_000251.3(MSH2):c.79C>A (p.Pro27Thr) rs878853826
NM_000251.3(MSH2):c.79C>T (p.Pro27Ser) rs878853826
NM_000251.3(MSH2):c.845A>C (p.Asp282Ala) rs587779978
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly) rs587779978
NM_000251.3(MSH2):c.874A>C (p.Thr292Pro) rs104895022
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu) rs757892928
NM_000251.3(MSH2):c.8T>G (p.Val3Gly)
NM_000252.3(MTM1):c.1405C>G (p.His469Asp)
NM_000252.3(MTM1):c.533T>C (p.Leu178Ser) rs2148488364
NM_000255.4(MMUT):c.1162A>G (p.Asn388Asp)
NM_000255.4(MMUT):c.1942G>A (p.Gly648Ser)
NM_000255.4(MMUT):c.398G>A (p.Gly133Glu)
NM_000255.4(MMUT):c.398G>T (p.Gly133Val)
NM_000255.4(MMUT):c.694A>T (p.Ile232Phe)
NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys) rs1236178301
NM_000256.3(MYBPC3):c.1072G>T (p.Asp358Tyr) rs746267533
NM_000256.3(MYBPC3):c.1351+3G>T
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met) rs753300898
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2507T>C (p.Met836Thr) rs1555121215
NM_000256.3(MYBPC3):c.2537T>A (p.Val846Asp) rs193922379
NM_000256.3(MYBPC3):c.2557G>T (p.Gly853Cys)
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser) rs775890771
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His) rs371401403
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu) rs371401403
NM_000256.3(MYBPC3):c.2737+20A>G rs2095881689
NM_000256.3(MYBPC3):c.293-19C>T
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000257.4(MYH7):c.1048T>C (p.Tyr350His) rs730880863
NM_000257.4(MYH7):c.1061G>A (p.Gly354Asp) rs2138677416
NM_000257.4(MYH7):c.1225G>A (p.Glu409Lys) rs1892823735
NM_000257.4(MYH7):c.12_24del (p.Glu5fs)
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val) rs771831848
NM_000257.4(MYH7):c.193T>C (p.Tyr65His) rs2138686468
NM_000257.4(MYH7):c.1956+20A>C rs774605900
NM_000257.4(MYH7):c.200A>C (p.Lys67Thr) rs2138686446
NM_000257.4(MYH7):c.2287G>A (p.Val763Met) rs727504253
NM_000257.4(MYH7):c.2377C>T (p.Arg793Ter) rs140175704
NM_000257.4(MYH7):c.2499C>A (p.Tyr833Ter) rs397516151
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2923-5G>A rs779010466
NM_000257.4(MYH7):c.2997del (p.Gln1000fs) rs2138662562
NM_000257.4(MYH7):c.3336+20G>T
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000257.4(MYH7):c.4144C>T (p.Arg1382Trp) rs730880910
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val) rs397516214
NM_000257.4(MYH7):c.4463A>G (p.Tyr1488Cys) rs948329167
NM_000257.4(MYH7):c.4616A>G (p.Glu1539Gly) rs1446214564
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp) rs397516227
NM_000257.4(MYH7):c.4945T>A (p.Leu1649Met)
NM_000257.4(MYH7):c.4953+15G>T
NM_000257.4(MYH7):c.5075_5076delinsAA (p.Val1692Glu) rs1892169334
NM_000257.4(MYH7):c.520A>G (p.Ile174Val)
NM_000257.4(MYH7):c.5279C>A (p.Thr1760Lys) rs727505294
NM_000257.4(MYH7):c.5281G>A (p.Asp1761Asn) rs1306082414
NM_000257.4(MYH7):c.5365A>G (p.Thr1789Ala)
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly) rs1595071680
NM_000257.4(MYH7):c.5654C>G (p.Ala1885Gly) rs1892080169
NM_000257.4(MYH7):c.641G>A (p.Gly214Asp)
NM_000257.4(MYH7):c.692G>T (p.Gly231Val) rs1380372471
NM_000257.4(MYH7):c.704C>A (p.Thr235Asn) rs1892944195
NM_000257.4(MYH7):c.953C>A (p.Thr318Asn) rs397516274
NM_000258.3(MYL3):c.-15T>A
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000260.4(MYO7A):c.1118G>A (p.Arg373His)
NM_000260.4(MYO7A):c.1709G>A (p.Arg570Gln)
NM_000260.4(MYO7A):c.1935+6T>C
NM_000260.4(MYO7A):c.2423A>G (p.Gln808Arg)
NM_000260.4(MYO7A):c.2662A>G (p.Lys888Glu) rs782227741
NM_000260.4(MYO7A):c.4268C>T (p.Thr1423Met)
NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) rs751242455
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser) rs574688121
NM_000263.4(NAGLU):c.1493T>C (p.Leu498Pro)
NM_000263.4(NAGLU):c.203GCG[3] (p.Gly71del) rs1186888836
NM_000263.4(NAGLU):c.2214G>A (p.Trp738Ter)
NM_000263.4(NAGLU):c.461T>C (p.Ile154Thr)
NM_000263.4(NAGLU):c.736G>C (p.Ala246Pro) rs1415169705
NM_000264.5(PTCH1):c.109G>T (p.Gly37Trp) rs199976372
NM_000264.5(PTCH1):c.1347G>A (p.Met449Ile)
NM_000264.5(PTCH1):c.2447A>G (p.Gln816Arg) rs1564030731
NM_000264.5(PTCH1):c.3120C>A (p.Phe1040Leu)
NM_000270.4(PNP):c.286-18G>C rs1026474882
NM_000270.4(PNP):c.575A>G (p.Tyr192Cys) rs104894452
NM_000271.5(NPC1):c.1223T>C (p.Leu408Pro) rs1567965313
NM_000271.5(NPC1):c.1672G>A (p.Ala558Thr) rs201156397
NM_000271.5(NPC1):c.2246-5G>C rs77289650
NM_000271.5(NPC1):c.2365C>T (p.Arg789Cys) rs1555633697
NM_000271.5(NPC1):c.2366G>A (p.Arg789His) rs483352891
NM_000271.5(NPC1):c.3047A>C (p.His1016Pro)
NM_000271.5(NPC1):c.3134T>C (p.Leu1045Pro) rs893564568
NM_000271.5(NPC1):c.3323C>T (p.Ala1108Val)
NM_000271.5(NPC1):c.3481T>C (p.Cys1161Arg)
NM_000271.5(NPC1):c.3493G>T (p.Val1165Leu) rs748862167
NM_000271.5(NPC1):c.3817G>A (p.Glu1273Lys)
NM_000271.5(NPC1):c.547G>A (p.Ala183Thr) rs111256741
NM_000271.5(NPC1):c.551G>C (p.Cys184Ser)
NM_000271.5(NPC1):c.57+6C>T
NM_000273.3(GPR143):c.248T>C (p.Leu83Pro)
NM_000273.3(GPR143):c.553G>A (p.Glu185Lys)
NM_000274.4(OAT):c.272G>A (p.Gly91Glu) rs386833603
NM_000275.3(OCA2):c.1044+3A>G
NM_000275.3(OCA2):c.1243T>C (p.Tyr415His)
NM_000275.3(OCA2):c.1342C>T (p.Leu448Phe)
NM_000275.3(OCA2):c.1418T>G (p.Ile473Ser)
NM_000275.3(OCA2):c.1592A>G (p.Tyr531Cys)
NM_000275.3(OCA2):c.2051T>G (p.Phe684Cys)
NM_000275.3(OCA2):c.2279A>T (p.Glu760Val)
NM_000276.4(OCRL):c.1082G>T (p.Arg361Ile) rs137853832
NM_000276.4(OCRL):c.2680T>G (p.Phe894Val)
NM_000276.4(OCRL):c.439+6A>G
NM_000277.3(PAH):c.1013A>C (p.Asp338Ala) rs1169310686
NM_000277.3(PAH):c.1089G>C (p.Lys363Asn) rs63329263
NM_000277.3(PAH):c.1150C>T (p.Pro384Ser) rs1555203677
NM_000277.3(PAH):c.1181A>C (p.Asp394Ala) rs62516102
NM_000277.3(PAH):c.1198A>C (p.Arg400=) rs199475593
NM_000277.3(PAH):c.1199+5G>A
NM_000277.3(PAH):c.1315A>G (p.Ser439Gly)
NM_000277.3(PAH):c.293T>C (p.Leu98Ser) rs62517167
NM_000277.3(PAH):c.302A>G (p.Asp101Gly) rs1877425793
NM_000277.3(PAH):c.332G>A (p.Arg111Gln)
NM_000277.3(PAH):c.385G>C (p.Asp129His)
NM_000277.3(PAH):c.467C>A (p.Ala156Glu)
NM_000277.3(PAH):c.509A>C (p.His170Pro) rs199475573
NM_000277.3(PAH):c.679C>A (p.Leu227Met)
NM_000277.3(PAH):c.934G>C (p.Gly312Arg) rs763115697
NM_000277.3(PAH):c.961C>A (p.Leu321Ile)
NM_000282.4(PCCA):c.1160C>G (p.Ala387Gly) rs1484267212
NM_000282.4(PCCA):c.1209+6dup rs746645726
NM_000282.4(PCCA):c.2061T>G (p.Ile687Met)
NM_000282.4(PCCA):c.729A>T (p.Arg243Ser)
NM_000282.4(PCCA):c.878A>G (p.Gln293Arg) rs879253805
NM_000284.4(PDHA1):c.1009-22_1057dup rs1569193991
NM_000284.4(PDHA1):c.1018G>A (p.Val340Met) rs1569194022
NM_000284.4(PDHA1):c.1170_1171dup (p.Ter391PheextTer?)
NM_000284.4(PDHA1):c.328C>G (p.Pro110Ala)
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000287.4(PEX6):c.10_69del (p.Ala4_Leu23del)
NM_000287.4(PEX6):c.1130+4T>C
NM_000287.4(PEX6):c.1930C>T (p.Arg644Trp) rs769896492
NM_000287.4(PEX6):c.2552C>G (p.Pro851Arg) rs2114237567
NM_000287.4(PEX6):c.659G>T (p.Gly220Val) rs267608203
NM_000288.4(PEX7):c.-1G>A
NM_000288.4(PEX7):c.401A>T (p.Asp134Val)
NM_000288.4(PEX7):c.490T>C (p.Ser164Pro) rs62653607
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln) rs267608257
NM_000288.4(PEX7):c.947del (p.Pro316fs) rs2115300156
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)
NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)
NM_000292.3(PHKA2):c.1787G>A (p.Gly596Glu)
NM_000292.3(PHKA2):c.3544A>G (p.Ile1182Val)
NM_000292.3(PHKA2):c.993T>G (p.Phe331Leu)
NM_000293.3(PHKB):c.1A>G (p.Met1Val)
NM_000293.3(PHKB):c.2336+4del
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val)
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg) rs763764574
NM_000294.3(PHKG2):c.965C>G (p.Ala322Gly) rs930832189
NM_000294.3(PHKG2):c.980G>A (p.Arg327His)
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)
NM_000295.5(SERPINA1):c.1093G>C (p.Asp365His)
NM_000295.5(SERPINA1):c.1178C>A (p.Pro393His)
NM_000297.4(PKD2):c.2208_2213del (p.Leu736_Asn737del) rs778896252
NM_000298.6(PKLR):c.1070T>A (p.Ile357Asn)
NM_000298.6(PKLR):c.997A>G (p.Ile333Val)
NM_000301.5(PLG):c.399C>A (p.His133Gln)
NM_000301.5(PLG):c.50-4C>G
NM_000301.5(PLG):c.554G>A (p.Cys185Tyr)
NM_000301.5(PLG):c.848A>G (p.Tyr283Cys) rs2115163630
NM_000302.4(PLOD1):c.-19C>T
NM_000302.4(PLOD1):c.1615T>C (p.Tyr539His)
NM_000302.4(PLOD1):c.1898C>G (p.Thr633Ser)
NM_000302.4(PLOD1):c.557T>C (p.Ile186Thr)
NM_000303.3(PMM2):c.424A>G (p.Ile142Val) rs1256479593
NM_000303.3(PMM2):c.430T>G (p.Phe144Val)
NM_000303.3(PMM2):c.523G>C (p.Gly175Arg)
NM_000303.3(PMM2):c.739T>C (p.Ter247Gln) rs1555453271
NM_000303.3(PMM2):c.98A>C (p.Gln33Pro)
NM_000305.3(PON2):c.*4G>A
NM_000305.3(PON2):c.-15C>T
NM_000305.3(PON2):c.139G>A (p.Gly47Arg)
NM_000305.3(PON2):c.195del (p.Phe65fs) rs1201102139
NM_000305.3(PON2):c.286del (p.Arg96fs) rs548392448
NM_000305.3(PON2):c.310C>T (p.Arg104Cys)
NM_000305.3(PON2):c.695+7C>T
NM_000305.3(PON2):c.698A>G (p.Tyr233Cys)
NM_000305.3(PON2):c.75-4A>G
NM_000306.4(POU1F1):c.3G>C (p.Met1Ile)
NM_000307.5(POU3F4):c.359C>A (p.Pro120Gln)
NM_000308.4(CTSA):c.1344dup (p.Phe449fs)
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr) rs1601139705
NM_000308.4(CTSA):c.51_52del (p.Leu18fs)
NM_000308.4(CTSA):c.526G>A (p.Gly176Arg)
NM_000310.4(PPT1):c.433G>A (p.Gly145Ser) rs369186379
NM_000310.4(PPT1):c.920G>T (p.Ter307Leu)
NM_000311.5(PRNP):c.222_245del (p.60PHGGGWGQ[3]) rs754362804
NM_000311.5(PRNP):c.714_716del (p.Pro239del) rs2122231073
NM_000312.4(PROC):c.1277G>A (p.Cys426Tyr)
NM_000312.4(PROC):c.487G>C (p.Ala163Pro)
NM_000312.4(PROC):c.487G>T (p.Ala163Ser)
NM_000312.4(PROC):c.574AAG[1] (p.Lys193del) rs199469469
NM_000314.6(PTEN):c.-850C>T rs559145151
NM_000314.6(PTEN):c.-868G>C rs587782133
NM_000314.6(PTEN):c.-881A>C
NM_000314.6(PTEN):c.-892delT rs1554889944
NM_000314.6(PTEN):c.-903G>C rs1044322
NM_000314.6(PTEN):c.-903_-882dup rs786204888
NM_000314.8(PTEN):c.*10del rs756681683
NM_000314.8(PTEN):c.-751G>T
NM_000314.8(PTEN):c.-752G>A rs1256922808
NM_000314.8(PTEN):c.-771G>A rs786202516
NM_000314.8(PTEN):c.-773C>T rs922418729
NM_000314.8(PTEN):c.-797G>A
NM_000314.8(PTEN):c.-797G>C
NM_000314.8(PTEN):c.-814G>A rs876661178
NM_000314.8(PTEN):c.-819A>G rs931643553
NM_000314.8(PTEN):c.-821C>G rs1064793784
NM_000314.8(PTEN):c.-838C>T rs786201900
NM_000314.8(PTEN):c.-844T>G
NM_000314.8(PTEN):c.-851C>A rs559145151
NM_000314.8(PTEN):c.-910T>G rs550385924
NM_000314.8(PTEN):c.1018A>C (p.Asn340His) rs759852661
NM_000314.8(PTEN):c.1066A>G (p.Asn356Asp) rs587782345
NM_000314.8(PTEN):c.1066A>T (p.Asn356Tyr) rs587782345
NM_000314.8(PTEN):c.107G>A (p.Gly36Glu) rs1554893792
NM_000314.8(PTEN):c.210-7C>T
NM_000314.8(PTEN):c.504T>G (p.Ile168Met)
NM_000314.8(PTEN):c.701G>A (p.Arg234Gln) rs121909235
NM_000314.8(PTEN):c.725A>T (p.Glu242Val) rs1860545768
NM_000314.8(PTEN):c.80-1_80del rs1554893747
NM_000314.8(PTEN):c.80-8del rs1060503844
NM_000314.8(PTEN):c.802-3T>A rs587780712
NM_000314.8(PTEN):c.808A>G (p.Met270Val) rs1554825502
NM_000314.8(PTEN):c.824T>C (p.Val275Ala)
NM_000314.8(PTEN):c.838A>G (p.Ile280Val) rs1474354667
NM_000314.8(PTEN):c.914G>A (p.Ser305Asn) rs587780007
NM_000314.8(PTEN):c.935A>G (p.Asp312Gly) rs863224667
NM_000317.3(PTS):c.25C>T (p.Arg9Cys) rs1859865664
NM_000318.3(PEX2):c.254A>T (p.Tyr85Phe) rs1563606761
NM_000320.3(QDPR):c.647_655dup (p.Ile216_Gly218dup) rs757385912
NM_000324.3(RHAG):c.572G>A (p.Arg191Gln)
NM_000324.3(RHAG):c.827C>G (p.Thr276Ser)
NM_000326.5(RLBP1):c.12+4A>G
NM_000326.5(RLBP1):c.12+6T>C
NM_000326.5(RLBP1):c.525G>C (p.Glu175Asp) rs753278812
NM_000326.5(RLBP1):c.780_794del (p.Ser260_Glu264del) rs2150968673
NM_000329.3(RPE65):c.1007T>C (p.Phe336Ser)
NM_000329.3(RPE65):c.1088C>T (p.Pro363Leu)
NM_000329.3(RPE65):c.1440AGA[1] (p.Glu481del) rs1557595745
NM_000329.3(RPE65):c.542C>T (p.Pro181Leu)
NM_000329.3(RPE65):c.643+5G>A rs61752890
NM_000330.4(RS1):c.404G>C (p.Gly135Ala)
NM_000330.4(RS1):c.527T>C (p.Phe176Ser)
NM_000334.4(SCN4A):c.3682G>A (p.Asp1228Asn)
NM_000334.4(SCN4A):c.483-5C>T rs191547933
NM_000335.5(SCN5A):c.1366G>C (p.Val456Leu)
NM_000335.5(SCN5A):c.1813G>A (p.Gly605Arg) rs1553704001
NM_000335.5(SCN5A):c.1862C>A (p.Pro621His)
NM_000335.5(SCN5A):c.2403G>C (p.Met801Ile) rs1559758625
NM_000335.5(SCN5A):c.301A>C (p.Thr101Pro) rs2062506882
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del) rs758282196
NM_000335.5(SCN5A):c.3580C>T (p.Arg1194Cys) rs864622440
NM_000335.5(SCN5A):c.3913C>T (p.Arg1305Cys) rs1403211358
NM_000335.5(SCN5A):c.3944G>C (p.Arg1315Pro) rs765907469
NM_000335.5(SCN5A):c.4340T>C (p.Ile1447Thr) rs199473251
NM_000335.5(SCN5A):c.4412A>T (p.Asn1471Ile) rs199473255
NM_000335.5(SCN5A):c.4499T>C (p.Leu1500Pro) rs1060501132
NM_000335.5(SCN5A):c.4832T>C (p.Ile1611Thr) rs1553693063
NM_000335.5(SCN5A):c.5317A>T (p.Asn1773Tyr) rs199473633
NM_000335.5(SCN5A):c.5454_5455inv (p.Ala1819Thr)
NM_000335.5(SCN5A):c.5815G>A (p.Asp1939Asn) rs2061011231
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met) rs41315493
NM_000335.5(SCN5A):c.592T>C (p.Phe198Leu)
NM_000335.5(SCN5A):c.6044T>A (p.Val2015Glu)
NM_000335.5(SCN5A):c.844C>T (p.Arg282Cys) rs199473082
NM_000335.5(SCN5A):c.922C>G (p.Leu308Val) rs2062079664
NM_000336.3(SCNN1B):c.1859A>G (p.Tyr620Cys)
NM_000338.3(SLC12A1):c.2761+2dup
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del) rs763620441
NM_000341.4(SLC3A1):c.1307C>T (p.Pro436Leu)
NM_000341.4(SLC3A1):c.1518G>C (p.Lys506Asn)
NM_000341.4(SLC3A1):c.1A>G (p.Met1Val)
NM_000341.4(SLC3A1):c.899T>C (p.Leu300Ser)
NM_000344.4(SMN1):c.*10C>A rs1749796858
NM_000344.4(SMN1):c.*2G>C rs1286965446
NM_000344.4(SMN1):c.*4G>A rs1749796463
NM_000344.4(SMN1):c.*6A>G rs1749796591
NM_000344.4(SMN1):c.835-13A>G rs1561503068
NM_000344.4(SMN1):c.835-13A>T rs1561503068
NM_000344.4(SMN1):c.835-13del rs1561503075
NM_000344.4(SMN1):c.835-15T>G rs1554082375
NM_000344.4(SMN1):c.835-17C>G rs1749768663
NM_000344.4(SMN1):c.835-17C>T rs1749768663
NM_000344.4(SMN1):c.835-18C>T rs1554082373
NM_000344.4(SMN1):c.835-19T>A rs1749768312
NM_000344.4(SMN1):c.835-21C>A rs1292776799
NM_000344.4(SMN1):c.835-24del rs555928635
NM_000344.4(SMN1):c.835-29T>G rs1554082368
NM_000344.4(SMN1):c.835-31T>G rs1749767005
NM_000344.4(SMN1):c.835-4dup rs1554082376
NM_000344.4(SMN1):c.836G>A (p.Gly279Asp) rs76163360
NM_000344.4(SMN1):c.837T>C (p.Gly279=) rs1561503108
NM_000344.4(SMN1):c.842G>C (p.Arg281Thr) rs1561503124
NM_000344.4(SMN1):c.847A>C (p.Asn283His) rs1561503132
NM_000344.4(SMN1):c.861_864del (p.Arg288fs)
NM_000344.4(SMN1):c.883T>G (p.Ter295Glu) rs1749775863
NM_000348.4(SRD5A2):c.196G>A (p.Gly66Arg)
NM_000348.4(SRD5A2):c.601T>A (p.Trp201Arg)
NM_000348.4(SRD5A2):c.698G>A (p.Arg233Lys)
NM_000350.3(ABCA4):c.2875A>T (p.Thr959Ser) rs368846708
NM_000350.3(ABCA4):c.4535C>G (p.Pro1512Arg) rs61750150
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn) rs1571242070
NM_000350.3(ABCA4):c.740A>C (p.Asn247Thr)
NM_000352.6(ABCC8):c.1069G>A (p.Val357Ile)
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
NM_000352.6(ABCC8):c.1453C>A (p.Gln485Lys) rs1956391008
NM_000352.6(ABCC8):c.1881T>G (p.His627Gln)
NM_000352.6(ABCC8):c.1912T>C (p.Tyr638His)
NM_000352.6(ABCC8):c.214A>G (p.Asn72Asp) rs2133728894
NM_000352.6(ABCC8):c.2292-16G>A
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly) rs1484689392
NM_000352.6(ABCC8):c.2630G>A (p.Arg877Gln)
NM_000352.6(ABCC8):c.267T>G (p.Ile89Met)
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489
NM_000352.6(ABCC8):c.3785C>T (p.Ala1262Val)
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.6(ABCC8):c.443T>C (p.Ile148Thr)
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
NM_000352.6(ABCC8):c.4606G>C (p.Ala1536Pro)
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000352.6(ABCC8):c.46C>T (p.Arg16Trp) rs1591935006
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln) rs1554943599
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp) rs372930264
NM_000352.6(ABCC8):c.86A>G (p.Asp29Gly)
NM_000352.6(ABCC8):c.890G>T (p.Arg297Met) rs371802112
NM_000353.3(TAT):c.709G>C (p.Ala237Pro)
NM_000359.3(TGM1):c.1201T>G (p.Phe401Val)
NM_000359.3(TGM1):c.991T>C (p.Ser331Pro)
NM_000360.4(TH):c.1147G>T (p.Gly383Trp)
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1229G>T (p.Arg410Leu) rs367874223
NM_000360.4(TH):c.145C>T (p.Arg49Trp) rs1312843586
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
NM_000360.4(TH):c.990C>G (p.His330Gln)
NM_000363.5(TNNI3):c.288G>C (p.Leu96Phe) rs1599909725
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe) rs773216333
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr) rs121917761
NM_000363.5(TNNI3):c.562G>A (p.Val188Met) rs193922409
NM_000363.5(TNNI3):c.88G>A (p.Ala30Thr) rs796104366
NM_000368.5(TSC1):c.1030-5C>T rs1588323218
NM_000368.5(TSC1):c.1717C>G (p.Gln573Glu) rs118203565
NM_000368.5(TSC1):c.2041+6_2041+7dup rs1845540759
NM_000368.5(TSC1):c.2432G>A (p.Arg811Gln) rs761281095
NM_000368.5(TSC1):c.3329C>G (p.Thr1110Ser) rs952996030
NM_000369.5(TSHR):c.1169G>T (p.Cys390Phe)
NM_000369.5(TSHR):c.1591C>T (p.Arg531Trp)
NM_000369.5(TSHR):c.1897G>A (p.Asp633Asn)
NM_000369.5(TSHR):c.2098A>G (p.Lys700Glu)
NM_000370.3(TTPA):c.574C>T (p.Arg192Cys)
NM_000370.3(TTPA):c.837A>G (p.Ter279Trp)
NM_000370.3(TTPA):c.88G>C (p.Ala30Pro) rs2129796265
NM_000370.3(TTPA):c.92T>A (p.Leu31Gln) rs2129796215
NM_000371.4(TTR):c.*9TCC[1] rs766223850
NM_000371.4(TTR):c.186G>T (p.Glu62Asp) rs1340627860
NM_000371.4(TTR):c.69+6T>C
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)
NM_000372.5(TYR):c.1026T>G (p.Asn342Lys)
NM_000372.5(TYR):c.1109T>C (p.Met370Thr) rs61754385
NM_000372.5(TYR):c.1379T>C (p.Phe460Ser)
NM_000372.5(TYR):c.1556_1557del (p.Glu519fs) rs765024056
NM_000372.5(TYR):c.982G>A (p.Glu328Lys) rs61754380
NM_000373.4(UMPS):c.499G>A (p.Gly167Arg) rs184856674
NM_000377.3(WAS):c.1259T>C (p.Val420Ala)
NM_000377.3(WAS):c.1289G>T (p.Gly430Val) rs1557007328
NM_000377.3(WAS):c.164T>C (p.Leu55Pro) rs2062412293
NM_000377.3(WAS):c.229G>A (p.Asp77Asn) rs2147262921
NM_000377.3(WAS):c.800T>G (p.Leu267Arg)
NM_000379.4(XDH):c.1041C>A (p.Ser347=)
NM_000379.4(XDH):c.1981G>C (p.Val661Leu)
NM_000380.4(XPA):c.674-2A>G
NM_000380.4(XPA):c.817dup (p.Met273fs) rs754458042
NM_000381.4(MID1):c.1663A>G (p.Ile555Val) rs398123341
NM_000381.4(MID1):c.1841C>T (p.Ser614Phe)
NM_000381.4(MID1):c.778G>A (p.Ala260Thr)
NM_000382.3(ALDH3A2):c.1202G>A (p.Gly401Glu) rs1010078101
NM_000382.3(ALDH3A2):c.154-6_154-2del
NM_000383.4(AIRE):c.65T>G (p.Val22Gly)
NM_000383.4(AIRE):c.799-17G>A rs72650675
NM_000383.4(AIRE):c.884A>G (p.Asn295Ser) rs2040534330
NM_000384.3(APOB):c.10304T>A (p.Ile3435Asn)
NM_000384.3(APOB):c.10345A>G (p.Lys3449Glu) rs967810441
NM_000384.3(APOB):c.10403T>A (p.Met3468Lys) rs1572778607
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10753A>G (p.Ser3585Gly)
NM_000384.3(APOB):c.10874A>G (p.Asn3625Ser) rs1663126182
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.4246_4251del (p.Asn1416_Thr1417del) rs767878127
NM_000387.6(SLC25A20):c.206C>T (p.Thr69Met)
NM_000387.6(SLC25A20):c.47C>T (p.Ala16Val) rs2083928547
NM_000387.6(SLC25A20):c.646G>T (p.Gly216Trp)
NM_000387.6(SLC25A20):c.658G>A (p.Gly220Arg) rs2083603903
NM_000388.4(CASR):c.1037G>A (p.Gly346Asp) rs2107632791
NM_000388.4(CASR):c.107G>T (p.Gly36Val) rs1559955372
NM_000388.4(CASR):c.1199A>T (p.Asn400Ile) rs576643925
NM_000388.4(CASR):c.1223A>G (p.Tyr408Cys) rs2074636776
NM_000388.4(CASR):c.1258G>A (p.Val420Met) rs2107633175
NM_000388.4(CASR):c.1262A>G (p.Tyr421Cys) rs2107633181
NM_000388.4(CASR):c.1268C>A (p.Ala423Glu) rs2107633192
NM_000388.4(CASR):c.1444T>C (p.Cys482Arg) rs774174934
NM_000388.4(CASR):c.1522G>A (p.Val508Ile)
NM_000388.4(CASR):c.1562T>C (p.Leu521Pro)
NM_000388.4(CASR):c.1619C>T (p.Ser540Phe) rs1057518409
NM_000388.4(CASR):c.1685G>A (p.Cys562Tyr)
NM_000388.4(CASR):c.173T>A (p.Val58Glu) rs2107625078
NM_000388.4(CASR):c.1802A>G (p.Lys601Arg) rs2107649424
NM_000388.4(CASR):c.1853T>G (p.Leu618Arg) rs2107649522
NM_000388.4(CASR):c.1913G>T (p.Arg638Leu) rs201852643
NM_000388.4(CASR):c.1933G>A (p.Ala645Thr) rs2107649636
NM_000388.4(CASR):c.1949T>C (p.Leu650Pro) rs2107649656
NM_000388.4(CASR):c.1997T>C (p.Leu666Pro) rs2107649736
NM_000388.4(CASR):c.2014_2025del (p.Pro672_Trp675del) rs2107649784
NM_000388.4(CASR):c.205C>T (p.Arg69Cys) rs1313627454
NM_000388.4(CASR):c.2087T>C (p.Leu696Pro) rs2107649925
NM_000388.4(CASR):c.2096C>G (p.Thr699Ser)
NM_000388.4(CASR):c.2254C>T (p.Arg752Cys) rs193922434
NM_000388.4(CASR):c.2295C>G (p.Cys765Trp) rs1232096655
NM_000388.4(CASR):c.2332G>C (p.Gly778Arg) rs1479933693
NM_000388.4(CASR):c.2335T>C (p.Tyr779His) rs766889439
NM_000388.4(CASR):c.2448C>G (p.Ile816Met) rs781343891
NM_000388.4(CASR):c.2458T>G (p.Ser820Ala) rs2074939020
NM_000388.4(CASR):c.2489G>A (p.Gly830Asp) rs193922436
NM_000388.4(CASR):c.2657G>A (p.Arg886Gln) rs1057520791
NM_000388.4(CASR):c.281G>A (p.Gly94Glu) rs1576854356
NM_000388.4(CASR):c.310G>A (p.Val104Ile) rs2074564250
NM_000388.4(CASR):c.372C>A (p.Asn124Lys) rs757571398
NM_000388.4(CASR):c.472G>A (p.Gly158Arg) rs2107627885
NM_000388.4(CASR):c.494T>G (p.Val165Gly) rs1559958757
NM_000388.4(CASR):c.496A>G (p.Ser166Gly) rs193922441
NM_000388.4(CASR):c.518T>A (p.Leu173His)
NM_000388.4(CASR):c.554G>T (p.Arg185Leu) rs104893689
NM_000388.4(CASR):c.580_581delinsCT (p.Ala194Leu)
NM_000388.4(CASR):c.614G>T (p.Arg205Leu) rs763162046
NM_000388.4(CASR):c.725T>C (p.Leu242Pro) rs1064794676
NM_000388.4(CASR):c.791C>G (p.Ala264Gly)
NM_000388.4(CASR):c.893C>T (p.Ala298Val) rs1064797049
NM_000388.4(CASR):c.89G>A (p.Gly30Glu) rs1553765889
NM_000390.4(CHM):c.217C>G (p.Pro73Ala)
NM_000391.4(TPP1):c.182T>C (p.Leu61Pro) rs1060502179
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000393.5(COL5A2):c.1015G>A (p.Gly339Arg)
NM_000393.5(COL5A2):c.1555G>A (p.Gly519Arg)
NM_000393.5(COL5A2):c.1577A>G (p.Asn526Ser) rs1553515522
NM_000393.5(COL5A2):c.1796C>T (p.Pro599Leu)
NM_000393.5(COL5A2):c.1977+4T>C rs1686064895
NM_000393.5(COL5A2):c.217A>G (p.Lys73Glu)
NM_000393.5(COL5A2):c.2189A>T (p.Glu730Val)
NM_000393.5(COL5A2):c.319T>G (p.Phe107Val) rs778501601
NM_000393.5(COL5A2):c.3322C>A (p.Pro1108Thr)
NM_000393.5(COL5A2):c.4422C>G (p.Ile1474Met)
NM_000396.4(CTSK):c.263A>C (p.Gln88Pro) rs762212949
NM_000396.4(CTSK):c.541T>C (p.Tyr181His) rs868112062
NM_000397.4(CYBB):c.1565C>T (p.Thr522Ile)
NM_000397.4(CYBB):c.674+34T>G rs1569479417
NM_000397.4(CYBB):c.674+62dup rs1569479419
NM_000398.7(CYB5R3):c.7del (p.Ala3fs)
NM_000400.4(ERCC2):c.1133G>A (p.Arg378His)
NM_000400.4(ERCC2):c.1348C>T (p.Arg450Cys)
NM_000400.4(ERCC2):c.1780G>C (p.Ala594Pro)
NM_000400.4(ERCC2):c.5+6A>C rs751637822
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu) rs727503953
NM_000404.4(GLB1):c.168C>G (p.His56Gln) rs745385633
NM_000404.4(GLB1):c.191A>G (p.Tyr64Cys) rs759483184
NM_000404.4(GLB1):c.2009_2010del (p.Lys670fs)
NM_000404.4(GLB1):c.203G>T (p.Arg68Leu) rs572237881
NM_000404.4(GLB1):c.982C>T (p.Pro328Ser) rs1244404381
NM_000407.5(GP1BB):c.*11G>C
NM_000407.5(GP1BB):c.433C>T (p.Pro145Ser)
NM_000407.5(GP1BB):c.544G>T (p.Ala182Ser) rs542853528
NM_000410.4(HFE):c.145G>T (p.Ala49Ser)
NM_000410.4(HFE):c.282G>T (p.Trp94Cys)
NM_000410.4(HFE):c.282_283delinsTC (p.Trp94_Asp95delinsCysHis)
NM_000410.4(HFE):c.617-8_617-4del
NM_000410.4(HFE):c.814G>A (p.Val272Ile)
NM_000410.4(HFE):c.814G>T (p.Val272Leu)
NM_000410.4(HFE):c.817C>T (p.Pro273Ser)
NM_000412.5(HRG):c.1325G>A (p.Gly442Asp)
NM_000414.4(HSD17B4):c.595C>T (p.Arg199Trp)
NM_000414.4(HSD17B4):c.650A>G (p.Tyr217Cys) rs387906825
NM_000414.4(HSD17B4):c.714+3A>G
NM_000416.3(IFNGR1):c.-19A>G
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met) rs372294932
NM_000419.5(ITGA2B):c.1585A>C (p.Ile529Leu)
NM_000419.5(ITGA2B):c.1600+16G>T rs199614885
NM_000419.5(ITGA2B):c.1729C>A (p.His577Asn)
NM_000419.5(ITGA2B):c.188+8del rs560275529
NM_000419.5(ITGA2B):c.1945G>A (p.Val649Met)
NM_000419.5(ITGA2B):c.2264G>A (p.Arg755Gln)
NM_000419.5(ITGA2B):c.2384A>C (p.Glu795Ala)
NM_000419.5(ITGA2B):c.2773G>A (p.Glu925Lys)
NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) rs879255514
NM_000419.5(ITGA2B):c.3102TGA[1] (p.Asp1035del)
NM_000426.4(LAMA2):c.1782+2_1782+3insTT
NM_000426.4(LAMA2):c.3758T>G (p.Leu1253Arg)
NM_000426.4(LAMA2):c.3832G>T (p.Gly1278Cys) rs571035066
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg)
NM_000426.4(LAMA2):c.4850A>G (p.Gln1617Arg) rs890490995
NM_000426.4(LAMA2):c.5654A>G (p.Lys1885Arg) rs2114694787
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser) rs886043693
NM_000426.4(LAMA2):c.6992+3T>G
NM_000426.4(LAMA2):c.7216T>C (p.Ser2406Pro) rs2114809893
NM_000426.4(LAMA2):c.7749+6C>T
NM_000426.4(LAMA2):c.8614A>G (p.Ser2872Gly)
NM_000429.3(MAT1A):c.934C>T (p.Arg312Trp)
NM_000431.4(MVK):c.605G>A (p.Gly202Glu)
NM_000431.4(MVK):c.943C>G (p.Leu315Val)
NM_000432.4(MYL2):c.169+20C>T
NM_000432.4(MYL2):c.181G>C (p.Val61Leu) rs730880949
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000432.4(MYL2):c.359G>C (p.Arg120Pro)
NM_000432.4(MYL2):c.488A>C (p.Glu163Ala) rs397516407
NM_000435.3(NOTCH3):c.1099G>A (p.Asp367Asn)
NM_000435.3(NOTCH3):c.118+19G>T
NM_000435.3(NOTCH3):c.1788del (p.Lys596fs) rs1303316005
NM_000435.3(NOTCH3):c.2741_2742delinsAG (p.Pro914Gln) rs2145423971
NM_000435.3(NOTCH3):c.2793-4C>G
NM_000435.3(NOTCH3):c.2926G>A (p.Val976Ile) rs771899820
NM_000435.3(NOTCH3):c.352T>G (p.Ser118Ala)
NM_000435.3(NOTCH3):c.3616A>G (p.Ile1206Val)
NM_000435.3(NOTCH3):c.3884A>G (p.Glu1295Gly)
NM_000435.3(NOTCH3):c.4585_4586delinsAA (p.Ala1529Asn) rs2046767691
NM_000440.3(PDE6A):c.1066-9del
NM_000440.3(PDE6A):c.2368C>T (p.Arg790Cys)
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del) rs767540194
NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu) rs753269996
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp) rs1314376649
NM_000441.2(SLC26A4):c.2090A>G (p.Asp697Gly)
NM_000441.2(SLC26A4):c.2091T>G (p.Asp697Glu)
NM_000441.2(SLC26A4):c.2171A>T (p.Asp724Val)
NM_000441.2(SLC26A4):c.2219G>T (p.Gly740Val) rs111033310
NM_000441.2(SLC26A4):c.2291del (p.Thr764fs)
NM_000441.2(SLC26A4):c.487G>C (p.Val163Leu)
NM_000441.2(SLC26A4):c.497G>A (p.Ser166Asn)
NM_000441.2(SLC26A4):c.587T>A (p.Val196Asp)
NM_000441.2(SLC26A4):c.596T>C (p.Ile199Thr)
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp) rs121918441
NM_000443.4(ABCB4):c.212T>A (p.Leu71His)
NM_000443.4(ABCB4):c.3280-8G>T rs1808206321
NM_000443.4(ABCB4):c.3367G>A (p.Asp1123Asn) rs866301089
NM_000443.4(ABCB4):c.808G>C (p.Gly270Arg) rs551234479
NM_000444.6(PHEX):c.751A>G (p.Lys251Glu)
NM_000447.3(PSEN2):c.457del (p.Thr153fs)
NM_000448.3(RAG1):c.145AAG[1] (p.Lys50del)
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp) rs104894298
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
NM_000448.3(RAG1):c.2029C>G (p.Pro677Ala) rs773165685
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000448.3(RAG1):c.2657T>C (p.Met886Thr)
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000448.3(RAG1):c.276C>A (p.His92Gln) rs550985019
NM_000451.3:c.(?_-692)_(-433+1_-432-1)del
NM_000451.4(SHOX):c.277+20G>C
NM_000451.4(SHOX):c.277+8C>T
NM_000451.4(SHOX):c.401G>T (p.Arg134Leu)
NM_000451.4(SHOX):c.439C>A (p.Arg147Ser) rs2124165990
NM_000451.4(SHOX):c.486+5G>A
NM_000451.4(SHOX):c.486+8C>G rs374705909
NM_000451.4(SHOX):c.486G>C (p.Gln162His)
NM_000451.4(SHOX):c.506G>A (p.Arg169Lys) rs2052840553
NM_000451.4(SHOX):c.751G>A (p.Ala251Thr)
NM_000453.3(SLC5A5):c.471C>A (p.Asn157Lys)
NM_000454.5(SOD1):c.357+2T>G rs2123435671
NM_000455.5(STK11):c.103A>G (p.Ile35Val) rs587781437
NM_000455.5(STK11):c.1063G>A (p.Asp355Asn) rs769403473
NM_000455.5(STK11):c.113C>G (p.Pro38Arg) rs1568690036
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser) rs768780695
NM_000455.5(STK11):c.1205C>G (p.Thr402Ser) rs750055790
NM_000455.5(STK11):c.1243C>T (p.Arg415Cys) rs864622448
NM_000455.5(STK11):c.1282T>A (p.Ser428Thr) rs1064793938
NM_000455.5(STK11):c.1283C>G (p.Ser428Trp) rs587781537
NM_000455.5(STK11):c.374+6del rs2080759180
NM_000455.5(STK11):c.397G>A (p.Val133Met) rs567769257
NM_000455.5(STK11):c.407T>C (p.Met136Thr) rs1060499958
NM_000455.5(STK11):c.425G>A (p.Ser142Asn) rs1568705518
NM_000455.5(STK11):c.463G>A (p.Gly155Arg) rs763353991
NM_000455.5(STK11):c.465-5C>A rs567202367
NM_000455.5(STK11):c.621C>A (p.Asp207Glu)
NM_000455.5(STK11):c.634A>G (p.Thr212Ala) rs1300171938
NM_000455.5(STK11):c.735-3A>G rs864622128
NM_000455.5(STK11):c.767A>T (p.Glu256Val) rs2145426849
NM_000455.5(STK11):c.863-5_863-3del rs764739106
NM_000455.5(STK11):c.946G>T (p.Ala316Ser) rs864622303
NM_000458.4(HNF1B):c.*111G>C
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
NM_000458.4(HNF1B):c.352C>G (p.Pro118Ala)
NM_000458.4(HNF1B):c.58G>A (p.Gly20Arg) rs1052557621
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000459.5(TEK):c.1217T>G (p.Val406Gly)
NM_000460.4(THPO):c.957G>C (p.Gln319His)
NM_000463.3(UGT1A1):c.1458C>A (p.Tyr486Ter)
NM_000463.3(UGT1A1):c.1463C>T (p.Ser488Phe) rs72551360
NM_000463.3(UGT1A1):c.1469A>C (p.Asp490Ala)
NM_000465.4(BARD1):c.1045A>C (p.Lys349Gln) rs1401955290
NM_000465.4(BARD1):c.1079C>G (p.Pro360Arg)
NM_000465.4(BARD1):c.1136A>G (p.Lys379Arg) rs750827325
NM_000465.4(BARD1):c.1153G>A (p.Asp385Asn) rs587782436
NM_000465.4(BARD1):c.1256A>G (p.Asn419Ser) rs776723079
NM_000465.4(BARD1):c.1270A>G (p.Arg424Gly) rs1553622123
NM_000465.4(BARD1):c.128G>C (p.Arg43Pro) rs1060501305
NM_000465.4(BARD1):c.1309A>G (p.Ile437Val) rs764592698
NM_000465.4(BARD1):c.133G>A (p.Glu45Lys) rs1553628365
NM_000465.4(BARD1):c.1457T>C (p.Leu486Ser) rs1559410003
NM_000465.4(BARD1):c.1470C>G (p.Thr490=) rs758895846
NM_000465.4(BARD1):c.1549G>A (p.Gly517Arg) rs1553619208
NM_000465.4(BARD1):c.1620A>T (p.Lys540Asn) rs747076015
NM_000465.4(BARD1):c.1652C>T (p.Ser551Leu) rs587781707
NM_000465.4(BARD1):c.1677+5G>A rs587780019
NM_000465.4(BARD1):c.1678-3C>G rs1693089932
NM_000465.4(BARD1):c.1772T>A (p.Ile591Asn) rs879254291
NM_000465.4(BARD1):c.1819GTT[2] (p.Val609del) rs927014703
NM_000465.4(BARD1):c.1840G>A (p.Val614Ile) rs760541768
NM_000465.4(BARD1):c.1883G>A (p.Cys628Tyr) rs1227794803
NM_000465.4(BARD1):c.1904-3C>T rs876660360
NM_000465.4(BARD1):c.1912G>A (p.Ala638Thr) rs756136465
NM_000465.4(BARD1):c.2126C>T (p.Pro709Leu) rs786203474
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs) rs1692211675
NM_000465.4(BARD1):c.223G>T (p.Val75Leu)
NM_000465.4(BARD1):c.2292A>G (p.Ile764Met) rs1692192973
NM_000465.4(BARD1):c.233G>C (p.Cys78Ser) rs199780731
NM_000465.4(BARD1):c.26_40del (p.4_8NRQPR[1]) rs587781979
NM_000465.4(BARD1):c.27C>A (p.Asn9Lys) rs1038616344
NM_000465.4(BARD1):c.282_291delinsT (p.Leu95_Ile97del) rs1064795485
NM_000465.4(BARD1):c.365-3C>G rs1695036239
NM_000465.4(BARD1):c.389A>C (p.Lys130Thr) rs1174079177
NM_000465.4(BARD1):c.566C>T (p.Ala189Val) rs864622686
NM_000465.4(BARD1):c.575C>A (p.Ser192Tyr) rs587782482
NM_000465.4(BARD1):c.728G>A (p.Cys243Tyr) rs767432527
NM_000465.4(BARD1):c.792C>G (p.Gly264=)
NM_000465.4(BARD1):c.847G>A (p.Ala283Thr) rs923851371
NM_000465.4(BARD1):c.907G>A (p.Val303Ile) rs375048835
NM_000465.4(BARD1):c.978T>A (p.Asn326Lys) rs1553622318
NM_000465.4(BARD1):c.98C>T (p.Ala33Val) rs1559454402
NM_000466.3(PEX1):c.1663T>C (p.Ser555Pro) rs773827098
NM_000466.3(PEX1):c.3833dup (p.Lys1279fs)
NM_000466.3(PEX1):c.472+5G>A rs1792887658
NM_000474.4(TWIST1):c.260_271del (p.Ala87_Gly90del)
NM_000474.4(TWIST1):c.295A>G (p.Ser99Gly)
NM_000478.6(ALPL):c.1024G>A (p.Glu342Lys)
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000478.6(ALPL):c.1228T>C (p.Phe410Leu) rs1644740176
NM_000478.6(ALPL):c.1446C>A (p.His482Gln)
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp) rs1188506084
NM_000478.6(ALPL):c.565G>A (p.Asp189Asn)
NM_000478.6(ALPL):c.577C>G (p.Pro193Ala)
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000478.6(ALPL):c.935TGG[3] (p.Val315del) rs756329108
NM_000479.5(AMH):c.1097C>T (p.Pro366Leu)
NM_000479.5(AMH):c.136C>G (p.Pro46Ala)
NM_000479.5(AMH):c.466G>A (p.Ala156Thr)
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg) rs1167886830
NM_000481.4(AMT):c.1106A>G (p.Tyr369Cys)
NM_000481.4(AMT):c.266T>G (p.Ile89Arg) rs2049102715
NM_000481.4(AMT):c.850G>C (p.Val284Leu)
NM_000484.4(APP):c.-516C>G
NM_000484.4(APP):c.1498G>A (p.Ala500Thr)
NM_000484.4(APP):c.1549A>C (p.Met517Leu)
NM_000484.4(APP):c.2212G>A (p.Val738Ile)
NM_000484.4(APP):c.272C>A (p.Pro91Gln)
NM_000484.4(APP):c.433G>A (p.Glu145Lys)
NM_000484.4(APP):c.819CAC[8] (p.Thr280dup) rs527890624
NM_000487.6(ARSA):c.1198T>G (p.Phe400Val)
NM_000487.6(ARSA):c.1279C>T (p.Pro427Ser)
NM_000487.6(ARSA):c.1528T>C (p.Ter510Arg)
NM_000487.6(ARSA):c.218C>T (p.Pro73Leu)
NM_000487.6(ARSA):c.465G>A (p.Gln155=) rs199476377
NM_000487.6(ARSA):c.466G>C (p.Gly156Arg)
NM_000487.6(ARSA):c.565G>A (p.Val189Met)
NM_000487.6(ARSA):c.697C>A (p.Pro233Thr) rs74315469
NM_000487.6(ARSA):c.731C>T (p.Ser244Leu)
NM_000487.6(ARSA):c.737G>T (p.Arg246Leu)
NM_000487.6(ARSA):c.869G>T (p.Arg290Leu)
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln) rs2071415045
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.3737-8C>T rs2070862607
NM_000489.6(ATRX):c.4314_4316dup (p.Asn1438_Lys1439insAsn)
NM_000489.6(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.6(ATRX):c.862G>A (p.Glu288Lys)
NM_000492.3(CFTR):c.3376_3381delGAAGGA rs1554392764
NM_000492.4(CFTR):c.-34C>T rs756314710
NM_000492.4(CFTR):c.1019T>A (p.Ile340Asn) rs1554381352
NM_000492.4(CFTR):c.1027T>C (p.Cys343Arg) rs2116684275
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.1059A>C (p.Gln353His) rs1800087
NM_000492.4(CFTR):c.1070C>T (p.Ala357Val)
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys) rs76879328
NM_000492.4(CFTR):c.1076A>G (p.Gln359Arg) rs397508153
NM_000492.4(CFTR):c.1079C>A (p.Thr360Lys) rs75053309
NM_000492.4(CFTR):c.1090T>C (p.Ser364Pro) rs78909279
NM_000492.4(CFTR):c.1116+6G>A
NM_000492.4(CFTR):c.1117-135del rs992074991
NM_000492.4(CFTR):c.1117-136_1117-132del
NM_000492.4(CFTR):c.1119T>G (p.Asp373Glu)
NM_000492.4(CFTR):c.112T>C (p.Tyr38His)
NM_000492.4(CFTR):c.1163C>A (p.Thr388Lys)
NM_000492.4(CFTR):c.1175T>C (p.Val392Ala) rs397508170
NM_000492.4(CFTR):c.1177G>C (p.Val393Leu) rs1562892874
NM_000492.4(CFTR):c.117A>T (p.Gln39His) rs764522674
NM_000492.4(CFTR):c.1196C>T (p.Ala399Val) rs146463120
NM_000492.4(CFTR):c.1210-15G>A rs947648829
NM_000492.4(CFTR):c.1210-6del rs1805177
NM_000492.4(CFTR):c.1211G>T (p.Gly404Val) rs1324302547
NM_000492.4(CFTR):c.1220A>T (p.Glu407Val) rs397508180
NM_000492.4(CFTR):c.128T>C (p.Val43Ala)
NM_000492.4(CFTR):c.1291A>G (p.Ser431Gly)
NM_000492.4(CFTR):c.1300T>C (p.Ser434Pro) rs1799212931
NM_000492.4(CFTR):c.1307T>C (p.Leu436Pro) rs1554382639
NM_000492.4(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.4(CFTR):c.134C>G (p.Ser45Cys) rs1798380222
NM_000492.4(CFTR):c.1351G>A (p.Gly451Arg)
NM_000492.4(CFTR):c.1357TTG[1] (p.Leu454del) rs397508194
NM_000492.4(CFTR):c.1360_1365delinsGCT (p.Leu454del)
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.1385C>G (p.Ala462Gly) rs1422519885
NM_000492.4(CFTR):c.1451A>G (p.His484Arg) rs1427892651
NM_000492.4(CFTR):c.1472G>C (p.Cys491Ser)
NM_000492.4(CFTR):c.1472G>T (p.Cys491Phe) rs778205742
NM_000492.4(CFTR):c.1478A>C (p.Gln493Pro) rs397508214
NM_000492.4(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.4(CFTR):c.1492A>G (p.Met498Val) rs1562898400
NM_000492.4(CFTR):c.1495C>G (p.Pro499Ala) rs397508219
NM_000492.4(CFTR):c.1517T>G (p.Ile506Ser) rs397508224
NM_000492.4(CFTR):c.1518C>G (p.Ile506Met) rs1800092
NM_000492.4(CFTR):c.1546A>G (p.Arg516Gly) rs397508226
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.4(CFTR):c.1564A>G (p.Lys522Glu) rs1483458563
NM_000492.4(CFTR):c.1583A>G (p.Glu528Gly) rs1562898548
NM_000492.4(CFTR):c.1584G>C (p.Glu528Asp)
NM_000492.4(CFTR):c.1589T>A (p.Ile530Asn)
NM_000492.4(CFTR):c.1590C>G (p.Ile530Met)
NM_000492.4(CFTR):c.1597T>C (p.Phe533Leu) rs397508238
NM_000492.4(CFTR):c.1625G>A (p.Gly542Glu)
NM_000492.4(CFTR):c.164+3A>G
NM_000492.4(CFTR):c.164+4T>A
NM_000492.4(CFTR):c.164+9A>T rs397508245
NM_000492.4(CFTR):c.164G>T (p.Arg55Ile)
NM_000492.4(CFTR):c.1669T>A (p.Ser557Thr)
NM_000492.4(CFTR):c.1675G>C (p.Ala559Pro)
NM_000492.4(CFTR):c.1678A>G (p.Arg560Gly) rs397508260
NM_000492.4(CFTR):c.1679+18G>T rs369294289
NM_000492.4(CFTR):c.1680-853del rs2116023034
NM_000492.4(CFTR):c.1680-893T>C rs1223503684
NM_000492.4(CFTR):c.1680-992dup rs1791993504
NM_000492.4(CFTR):c.1681G>A (p.Ala561Thr) rs1226880376
NM_000492.4(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.4(CFTR):c.1696G>A (p.Ala566Thr) rs397508271
NM_000492.4(CFTR):c.1704G>T (p.Leu568Phe) rs397508275
NM_000492.4(CFTR):c.1718C>G (p.Ser573Cys)
NM_000492.4(CFTR):c.1744A>T (p.Thr582Ser) rs397508292
NM_000492.4(CFTR):c.1756A>G (p.Ile586Val)
NM_000492.4(CFTR):c.1775G>A (p.Cys592Tyr)
NM_000492.4(CFTR):c.1783A>G (p.Met595Val) rs750140050
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro) rs1584776330
NM_000492.4(CFTR):c.1858C>T (p.His620Tyr)
NM_000492.4(CFTR):c.1872C>A (p.Ser624Arg)
NM_000492.4(CFTR):c.1883G>C (p.Gly628Ala) rs1554389290
NM_000492.4(CFTR):c.1897C>A (p.Leu633Ile) rs397508317
NM_000492.4(CFTR):c.1950C>A (p.Phe650Leu) rs200204024
NM_000492.4(CFTR):c.2014G>A (p.Glu672Lys)
NM_000492.4(CFTR):c.2052A>C (p.Lys684Asn) rs750642366
NM_000492.4(CFTR):c.2125C>G (p.Arg709Gly) rs121908760
NM_000492.4(CFTR):c.212A>G (p.Asn71Ser) rs1003610229
NM_000492.4(CFTR):c.2194T>G (p.Leu732Val) rs2116032346
NM_000492.4(CFTR):c.224G>T (p.Arg75Leu) rs1800076
NM_000492.4(CFTR):c.226T>C (p.Cys76Arg)
NM_000492.4(CFTR):c.228T>G (p.Cys76Trp) rs777536750
NM_000492.4(CFTR):c.2346C>A (p.Asn782Lys) rs397508369
NM_000492.4(CFTR):c.2373_2377delinsCC (p.Arg792_Lys793delinsGln)
NM_000492.4(CFTR):c.2402A>G (p.Asn801Ser) rs1562908192
NM_000492.4(CFTR):c.2407A>T (p.Thr803Ser) rs1792049314
NM_000492.4(CFTR):c.2419A>G (p.Ile807Val)
NM_000492.4(CFTR):c.2437T>C (p.Ser813Pro)
NM_000492.4(CFTR):c.2490+11A>G rs1482271794
NM_000492.4(CFTR):c.2493G>T (p.Glu831Asp) rs1301647941
NM_000492.4(CFTR):c.2519T>C (p.Ile840Thr)
NM_000492.4(CFTR):c.251A>G (p.Tyr84Cys)
NM_000492.4(CFTR):c.2531C>T (p.Thr844Ile) rs1792097477
NM_000492.4(CFTR):c.2557A>T (p.Ile853Phe) rs780187979
NM_000492.4(CFTR):c.2619+3A>G rs397508408
NM_000492.4(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.4(CFTR):c.2657+12A>G rs1792246845
NM_000492.4(CFTR):c.2669A>G (p.Gln890Arg) rs397508417
NM_000492.4(CFTR):c.2681A>G (p.Asn894Ser)
NM_000492.4(CFTR):c.273+10240A>G
NM_000492.4(CFTR):c.273+10255del rs193922507
NM_000492.4(CFTR):c.2733T>G (p.Ser911Arg) rs1562911534
NM_000492.4(CFTR):c.2752A>G (p.Ile918Val) rs1267646551
NM_000492.4(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.4(CFTR):c.276A>T (p.Glu92Asp) rs397508432
NM_000492.4(CFTR):c.2777T>C (p.Leu926Ser) rs757410423
NM_000492.4(CFTR):c.2812G>T (p.Val938Leu) rs749784731
NM_000492.4(CFTR):c.2845C>T (p.His949Tyr) rs121909035
NM_000492.4(CFTR):c.2875G>A (p.Ala959Thr)
NM_000492.4(CFTR):c.2916_2917delinsAT (p.Leu973Phe) rs397508459
NM_000492.4(CFTR):c.2936A>G (p.Asp979Gly) rs397508462
NM_000492.4(CFTR):c.2971A>G (p.Ile991Val)
NM_000492.4(CFTR):c.2977G>T (p.Asp993Tyr) rs397508468
NM_000492.4(CFTR):c.2978A>G (p.Asp993Gly)
NM_000492.4(CFTR):c.2988+3A>G rs2116069964
NM_000492.4(CFTR):c.2988+47dup rs149902649
NM_000492.4(CFTR):c.2988+4T>C
NM_000492.4(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser) rs978796108
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.3064G>C (p.Val1022Leu) rs144441835
NM_000492.4(CFTR):c.3073G>T (p.Ala1025Ser)
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu) rs1417435640
NM_000492.4(CFTR):c.3167T>C (p.Val1056Ala) rs2116084150
NM_000492.4(CFTR):c.3254A>C (p.His1085Pro) rs79635528
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala) rs373043500
NM_000492.4(CFTR):c.325T>A (p.Tyr109Asn) rs397508522
NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser) rs1792393459
NM_000492.4(CFTR):c.3352T>C (p.Ser1118Pro)
NM_000492.4(CFTR):c.3356T>C (p.Ile1119Thr) rs1562914851
NM_000492.4(CFTR):c.3367+222_3367+223insGT rs2116087630
NM_000492.4(CFTR):c.3367+238_3367+259del rs1283255059
NM_000492.4(CFTR):c.3368-78dup
NM_000492.4(CFTR):c.3371_3373del (p.Glu1124del) rs397508548
NM_000492.4(CFTR):c.3389G>C (p.Gly1130Ala) rs397508550
NM_000492.4(CFTR):c.340_342del (p.Lys114del) rs1554379808
NM_000492.4(CFTR):c.3457G>C (p.Val1153Leu)
NM_000492.4(CFTR):c.3461A>G (p.Asp1154Gly) rs397508569
NM_000492.4(CFTR):c.3469-3C>A
NM_000492.4(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.4(CFTR):c.3530A>G (p.Lys1177Arg)
NM_000492.4(CFTR):c.3551A>T (p.Asn1184Ile)
NM_000492.4(CFTR):c.3577A>G (p.Ile1193Val) rs1562919375
NM_000492.4(CFTR):c.3590A>T (p.His1197Leu) rs765133036
NM_000492.4(CFTR):c.3601G>T (p.Asp1201Tyr) rs1182767623
NM_000492.4(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.4(CFTR):c.3680T>C (p.Leu1227Ser) rs397508593
NM_000492.4(CFTR):c.3682G>A (p.Glu1228Lys) rs759116351
NM_000492.4(CFTR):c.3683A>G (p.Glu1228Gly)
NM_000492.4(CFTR):c.3689T>C (p.Ile1230Thr)
NM_000492.4(CFTR):c.3764C>T (p.Ser1255Leu) rs76649725
NM_000492.4(CFTR):c.3797A>G (p.Glu1266Gly)
NM_000492.4(CFTR):c.3809A>G (p.Asp1270Gly)
NM_000492.4(CFTR):c.3849G>C (p.Arg1283Ser) rs1792935893
NM_000492.4(CFTR):c.3851A>G (p.Lys1284Arg) rs2116167703
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3857T>G (p.Phe1286Cys) rs121909028
NM_000492.4(CFTR):c.3859G>A (p.Gly1287Arg) rs1792936385
NM_000492.4(CFTR):c.3862G>A (p.Val1288Met)
NM_000492.4(CFTR):c.3873+28dup
NM_000492.4(CFTR):c.3873+5G>A
NM_000492.4(CFTR):c.3898T>C (p.Phe1300Leu)
NM_000492.4(CFTR):c.3915T>A (p.Asp1305Glu) rs397508640
NM_000492.4(CFTR):c.3937C>A (p.Gln1313Lys) rs121909026
NM_000492.4(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.4(CFTR):c.3946T>C (p.Trp1316Arg)
NM_000492.4(CFTR):c.3953T>C (p.Val1318Ala) rs397508648
NM_000492.4(CFTR):c.3963+15T>C rs1269502695
NM_000492.4(CFTR):c.3963+5G>C
NM_000492.4(CFTR):c.3964-18_3964-16delinsCAG
NM_000492.4(CFTR):c.3964-3C>A
NM_000492.4(CFTR):c.3970C>T (p.Leu1324Phe)
NM_000492.4(CFTR):c.4009T>G (p.Phe1337Val) rs397508659
NM_000492.4(CFTR):c.4015C>T (p.Leu1339Phe) rs397508660
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4085G>A (p.Ser1362Asn) rs777892053
NM_000492.4(CFTR):c.4097T>C (p.Ile1366Thr) rs200955612
NM_000492.4(CFTR):c.4114C>A (p.Pro1372Thr) rs397508676
NM_000492.4(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.4(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.4(CFTR):c.4137-9C>T rs1562929122
NM_000492.4(CFTR):c.4141T>C (p.Tyr1381His) rs397508682
NM_000492.4(CFTR):c.418C>G (p.Pro140Ala)
NM_000492.4(CFTR):c.4242+20C>T rs1229413013
NM_000492.4(CFTR):c.4242+5G>A rs1562929196
NM_000492.4(CFTR):c.4243-16A>G rs780125251
NM_000492.4(CFTR):c.4262T>A (p.Val1421Glu)
NM_000492.4(CFTR):c.4264C>T (p.Arg1422Trp) rs373172017
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr) rs762847468
NM_000492.4(CFTR):c.4433C>G (p.Thr1478Arg) rs753173837
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn) rs397508725
NM_000492.4(CFTR):c.482A>G (p.Tyr161Cys) rs397508730
NM_000492.4(CFTR):c.489+4A>G
NM_000492.4(CFTR):c.489+8T>C rs727504712
NM_000492.4(CFTR):c.489G>A (p.Lys163=) rs397508733
NM_000492.4(CFTR):c.490A>C (p.Thr164Pro)
NM_000492.4(CFTR):c.495A>C (p.Leu165Phe) rs2116674883
NM_000492.4(CFTR):c.508C>T (p.Arg170Cys) rs578029902
NM_000492.4(CFTR):c.52A>G (p.Ser18Gly)
NM_000492.4(CFTR):c.53+34_53+35del rs762372419
NM_000492.4(CFTR):c.547C>A (p.Leu183Ile) rs397508751
NM_000492.4(CFTR):c.558C>G (p.Asn186Lys) rs397508753
NM_000492.4(CFTR):c.560A>G (p.Asn187Ser)
NM_000492.4(CFTR):c.563T>C (p.Leu188Pro) rs766640075
NM_000492.4(CFTR):c.575A>T (p.Asp192Val) rs397508758
NM_000492.4(CFTR):c.579+4T>C
NM_000492.4(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.4(CFTR):c.592G>C (p.Ala198Pro) rs193922529
NM_000492.4(CFTR):c.593C>T (p.Ala198Val) rs73215910
NM_000492.4(CFTR):c.5A>C (p.Gln2Pro) rs1797976959
NM_000492.4(CFTR):c.711G>C (p.Gln237His) rs397508785
NM_000492.4(CFTR):c.712G>C (p.Ala238Pro) rs1413926814
NM_000492.4(CFTR):c.713C>T (p.Ala238Val) rs397508786
NM_000492.4(CFTR):c.743G>C (p.Arg248Thr) rs397508792
NM_000492.4(CFTR):c.744-34A>T rs897890349
NM_000492.4(CFTR):c.757G>A (p.Gly253Arg) rs1343896905
NM_000492.4(CFTR):c.796A>G (p.Ile266Val)
NM_000492.4(CFTR):c.870-3T>G rs397508810
NM_000492.4(CFTR):c.870-4A>G rs755173693
NM_000492.4(CFTR):c.870-7_870-5del rs759762840
NM_000492.4(CFTR):c.914T>G (p.Phe305Cys) rs1562892143
NM_000492.4(CFTR):c.92G>A (p.Arg31His) rs149353983
NM_000492.4(CFTR):c.947T>A (p.Phe316Tyr) rs779201407
NM_000492.4(CFTR):c.[220C>T;3808G>A]
NM_000493.4(COL10A1):c.1055C>T (p.Pro352Leu)
NM_000493.4(COL10A1):c.1453dup (p.Leu485fs)
NM_000493.4(COL10A1):c.499C>T (p.Pro167Ser)
NM_000494.4(COL17A1):c.3542G>C (p.Gly1181Ala)
NM_000494.4(COL17A1):c.3670G>A (p.Gly1224Arg)
NM_000497.4(CYP11B1):c.1280G>A (p.Arg427His) rs754432887
NM_000497.4(CYP11B1):c.1361G>C (p.Arg454Pro)
NM_000497.4(CYP11B1):c.1398+6C>G
NM_000497.4(CYP11B1):c.239+156C>T
NM_000497.4(CYP11B1):c.240-18_240-17delinsAA rs1586561494
NM_000497.4(CYP11B1):c.954+3C>G
NM_000498.3(CYP11B2):c.422G>A (p.Arg141Gln)
NM_000500.9(CYP21A2):c.1132G>T (p.Asp378Tyr) rs528524868
NM_000500.9(CYP21A2):c.1143G>C (p.Glu381Asp)
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.1205C>T (p.Pro402Leu)
NM_000500.9(CYP21A2):c.1213T>C (p.Phe405Leu)
NM_000500.9(CYP21A2):c.1385T>C (p.Leu462Pro)
NM_000500.9(CYP21A2):c.22C>A (p.Leu8Met)
NM_000500.9(CYP21A2):c.601A>G (p.Thr201Ala)
NM_000500.9(CYP21A2):c.931C>A (p.His311Asn)
NM_000500.9(CYP21A2):c.[710T>A;719T>A]
NM_000500.9(CYP21A2):c.[713T>A;719T>A]
NM_000501.4(ELN):c.1918+3G>A
NM_000503.6(EYA1):c.1211T>G (p.Phe404Cys)
NM_000505.4(F12):c.1697del (p.Pro566fs)
NM_000506.4(F2):c.*108C>T
NM_000506.5(F2):c.*65_*69dup
NM_000512.5(GALNS):c.1096C>T (p.Leu366Phe)
NM_000512.5(GALNS):c.169C>T (p.Pro57Ser)
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln) rs746949976
NM_000512.5(GALNS):c.499T>G (p.Phe167Val) rs148565559
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
NM_000512.5(GALNS):c.707A>G (p.His236Arg) rs398123441
NM_000512.5(GALNS):c.806T>C (p.Leu269Pro)
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro) rs2143001162
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp) rs1314520034
NM_000512.5(GALNS):c.866A>G (p.Asn289Ser) rs1465096387
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser) rs759590432
NM_000515.5(GH1):c.-5C>T
NM_000515.5(GH1):c.-5_-4delinsTG
NM_000515.5(GH1):c.615C>G (p.Ile205Met) rs148474991
NM_000517.6(HBA2):c.-3_-2del
NM_000517.6(HBA2):c.301-13_301-12insGGCCCCC rs778442461
NM_000517.6(HBA2):c.326C>A (p.Thr109Asn) rs63750010
NM_000517.6(HBA2):c.349G>A (p.Glu117Lys) rs33987053
NM_000517.6(HBA2):c.369C>A (p.His123Gln)
NM_000517.6(HBA2):c.43T>C (p.Trp15Arg)
NM_000517.6(HBA2):c.46G>A (p.Gly16Ser)
NM_000517.6(HBA2):c.77G>A (p.Gly26Asp)
NM_000517.6(HBA2):c.79G>A (p.Ala27Thr) rs41467944
NM_000518.4(HBB):c.-134A>G rs1847592568
NM_000518.4(HBB):c.-146G>T
NM_000518.4(HBB):c.-152C>A
NM_000518.4(HBB):c.-82C>A rs34500389
NM_000518.4(HBB):c.-83G>A
NM_000518.4(HBB):c.-92C>T rs397515291
NM_000518.4(HBB):c.137T>C (p.Phe46Ser) rs33978338
NM_000518.4(HBB):c.232C>T (p.His78Tyr) rs33991294
NM_000518.4(HBB):c.263C>A (p.Thr88Lys) rs33993568
NM_000518.4(HBB):c.271G>A (p.Glu91Lys) rs33913712
NM_000518.4(HBB):c.283G>A (p.Asp95Asn) rs33959340
NM_000518.4(HBB):c.29C>G (p.Ser10Cys) rs33918131
NM_000518.4(HBB):c.374C>T (p.Pro125Leu) rs33983276
NM_000518.4(HBB):c.386C>T (p.Ala129Val) rs33957286
NM_000518.4(HBB):c.67G>C (p.Glu23Gln) rs33959855
NM_000518.5(HBB):c.*102C>T rs1554917429
NM_000518.5(HBB):c.*112A>T
NM_000518.5(HBB):c.*116dup rs281864532
NM_000518.5(HBB):c.*117C>T rs2133585664
NM_000518.5(HBB):c.*33G>T rs1364427740
NM_000518.5(HBB):c.*37C>G
NM_000518.5(HBB):c.*47C>G rs1158183534
NM_000518.5(HBB):c.*47C>T rs1158183534
NM_000518.5(HBB):c.*48T>C rs759337708
NM_000518.5(HBB):c.*51G>A
NM_000518.5(HBB):c.*56A>G rs537944366
NM_000518.5(HBB):c.*57C>G
NM_000518.5(HBB):c.*5G>C
NM_000518.5(HBB):c.-10A>G rs747545656
NM_000518.5(HBB):c.-12C>T
NM_000518.5(HBB):c.-130T>C
NM_000518.5(HBB):c.-140C>G rs34999973
NM_000518.5(HBB):c.-82C>T rs34500389
NM_000518.5(HBB):c.-8C>G rs1319747765
NM_000518.5(HBB):c.100G>A (p.Val34Met) rs1141370
NM_000518.5(HBB):c.10C>A (p.Leu4Met) rs34126315
NM_000518.5(HBB):c.116C>G (p.Thr39Ser)
NM_000518.5(HBB):c.164T>C (p.Val55Ala) rs34037627
NM_000518.5(HBB):c.167T>C (p.Met56Thr) rs35094013
NM_000518.5(HBB):c.169G>A (p.Gly57Ser) rs33935983
NM_000518.5(HBB):c.16C>T (p.Pro6Ser) rs33912272
NM_000518.5(HBB):c.176C>G (p.Pro59Arg) rs33991472
NM_000518.5(HBB):c.186G>C (p.Lys62Asn) rs34446260
NM_000518.5(HBB):c.241A>T (p.Asn81Tyr) rs63750519
NM_000518.5(HBB):c.251G>A (p.Gly84Asp) rs1803195
NM_000518.5(HBB):c.259G>T (p.Ala87Ser)
NM_000518.5(HBB):c.282T>G (p.Cys94Trp) rs1847552343
NM_000518.5(HBB):c.300T>A (p.Asp100Glu) rs34013622
NM_000518.5(HBB):c.315+5G>A
NM_000518.5(HBB):c.315+9A>G rs1277597344
NM_000518.5(HBB):c.315G>A (p.Arg105=)
NM_000518.5(HBB):c.316-106C>A
NM_000518.5(HBB):c.316-141G>A rs1011427406
NM_000518.5(HBB):c.316-171_316-170del rs1564874493
NM_000518.5(HBB):c.316-192G>A rs1564874512
NM_000518.5(HBB):c.316-194T>C
NM_000518.5(HBB):c.316-198G>A rs547258651
NM_000518.5(HBB):c.316-20C>T rs756657263
NM_000518.5(HBB):c.316-27T>G rs1280140490
NM_000518.5(HBB):c.316-28G>C rs771736852
NM_000518.5(HBB):c.316-42del rs746631999
NM_000518.5(HBB):c.316-44C>G
NM_000518.5(HBB):c.316-46G>A rs1554917642
NM_000518.5(HBB):c.316-60C>T rs1847533961
NM_000518.5(HBB):c.316-7C>G rs34483965
NM_000518.5(HBB):c.316-85A>G rs1847534399
NM_000518.5(HBB):c.316-96G>A rs193922561
NM_000518.5(HBB):c.316-99del rs1257175417
NM_000518.5(HBB):c.31G>A (p.Ala11Thr) rs63750717
NM_000518.5(HBB):c.323G>T (p.Gly108Val) rs35519485
NM_000518.5(HBB):c.394C>G (p.Gln132Glu) rs33910209
NM_000518.5(HBB):c.407C>T (p.Ala136Val)
NM_000518.5(HBB):c.420T>G (p.Asn140Lys)
NM_000518.5(HBB):c.4G>A (p.Val2Met) rs33958358
NM_000518.5(HBB):c.56T>G (p.Val19Gly) rs35382661
NM_000518.5(HBB):c.5T>C (p.Val2Ala) rs33949930
NM_000518.5(HBB):c.8A>C (p.His3Pro) rs33983205
NM_000518.5(HBB):c.92+13G>T rs753444453
NM_000518.5(HBB):c.92+15_92+16insTGG rs1847578475
NM_000518.5(HBB):c.93-30_96delinsGTCCCTTGGGCTGTTTTCCTACCCTCAGATTA rs1554918013
NM_000520.5(HEXA):c.-898A>T rs2140346088
NM_000520.6(HEXA):c.1008G>T (p.Gln336His)
NM_000520.6(HEXA):c.1074-7_1074-3del rs759219683
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr) rs2088636561
NM_000520.6(HEXA):c.1196A>T (p.Asn399Ile) rs755973971
NM_000520.6(HEXA):c.1382G>T (p.Gly461Val)
NM_000520.6(HEXA):c.358A>G (p.Ile120Val) rs1567300305
NM_000520.6(HEXA):c.460-13T>C rs2140326429
NM_000520.6(HEXA):c.499T>G (p.Phe167Val) rs2088724098
NM_000520.6(HEXA):c.571-20G>T
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.746G>A (p.Arg249Gln) rs1297800753
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.907A>C (p.Thr303Pro) rs759837903
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu) rs1316178162
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val) rs757550590
NM_000521.4(HEXB):c.1378T>C (p.Trp460Arg) rs2112180926
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile) rs760366178
NM_000521.4(HEXB):c.1586T>G (p.Leu529Arg) rs745454291
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.1613+4A>G
NM_000521.4(HEXB):c.1613+5_1613+10del
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro) rs774155487
NM_000521.4(HEXB):c.178C>A (p.Pro60Thr) rs761575773
NM_000521.4(HEXB):c.299G>A (p.Arg100Gln) rs1060499701
NM_000521.4(HEXB):c.988T>G (p.Tyr330Asp) rs1749650679
NM_000525.4(KCNJ11):c.11G>A (p.Arg4His)
NM_000526.5(KRT14):c.907G>A (p.Glu303Lys) rs1907424216
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.*18C>T
NM_000527.5(LDLR):c.1037T>C (p.Leu346Pro)
NM_000527.5(LDLR):c.1186+11G>A rs879254822
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg) rs752942769
NM_000527.5(LDLR):c.130T>C (p.Trp44Arg)
NM_000527.5(LDLR):c.1358+10G>A
NM_000527.5(LDLR):c.1370A>G (p.Asp457Gly)
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.139G>T (p.Asp47Tyr) rs778284147
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn) rs2077416170
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1522A>T (p.Arg508Trp) rs2077420485
NM_000527.5(LDLR):c.1575T>A (p.Asp525Glu) rs763884010
NM_000527.5(LDLR):c.1586+12C>T
NM_000527.5(LDLR):c.1587-3C>G
NM_000527.5(LDLR):c.1654A>G (p.Ile552Val) rs2077459948
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.5(LDLR):c.1669A>C (p.Thr557Pro)
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys) rs879254985
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1721G>C (p.Arg574Pro)
NM_000527.5(LDLR):c.1847A>G (p.Asp616Gly) rs2147264778
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.190+4_190+7del rs2147210820
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys) rs1568611349
NM_000527.5(LDLR):c.2229_2234dup (p.Arg744_Pro745dup) rs1131692222
NM_000527.5(LDLR):c.2312C>T (p.Ala771Val)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.262A>T (p.Arg88Trp)
NM_000527.5(LDLR):c.314-16C>G
NM_000527.5(LDLR):c.672C>G (p.Asp224Glu) rs1057519658
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.779A>G (p.Asp260Gly) rs2077300243
NM_000527.5(LDLR):c.826T>C (p.Cys276Arg) rs879254692
NM_000527.5(LDLR):c.871A>C (p.Thr291Pro)
NM_000527.5(LDLR):c.95T>C (p.Phe32Ser) rs879254403
NM_000528.4(MAN2B1):c.1336C>T (p.His446Tyr)
NM_000528.4(MAN2B1):c.2744T>C (p.Leu915Pro) rs1555706137
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
NM_000528.4(MAN2B1):c.2887del (p.Glu963fs) rs2145220124
NM_000528.4(MAN2B1):c.2977dup (p.Glu993fs)
NM_000531.6(OTC):c.116G>A (p.Gly39Asp) rs1602014500
NM_000531.6(OTC):c.218A>G (p.Tyr73Cys)
NM_000531.6(OTC):c.791C>T (p.Thr264Ile) rs67156896
NM_000532.5(PCCB):c.1126C>T (p.Arg376Cys) rs200306164
NM_000532.5(PCCB):c.1219G>A (p.Gly407Ser)
NM_000532.5(PCCB):c.773A>G (p.His258Arg)
NM_000532.5(PCCB):c.884G>C (p.Ser295Thr) rs752029455
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.-1C>T rs369681753
NM_000535.7(PMS2):c.-3T>G
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly) rs878854031
NM_000535.7(PMS2):c.1098T>G (p.Asp366Glu)
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del) rs1583334101
NM_000535.7(PMS2):c.1145-17delinsGGAG rs1562637330
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu) rs1060503132
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro) rs747495075
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu) rs1562635229
NM_000535.7(PMS2):c.1294A>G (p.Asn432Asp) rs1783144549
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly) rs1583321782
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser) rs192720342
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser) rs569947936
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn) rs755665894
NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala) rs373917897
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala) rs864622497
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr) rs878854036
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val) rs1562629531
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys) rs557906137
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile) rs762100304
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg) rs771892867
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser) rs63750835
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val) rs1782931972
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg) rs1562624877
NM_000535.7(PMS2):c.2006+67del rs1159879425
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu) rs1554295980
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu) rs1562616167
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
NM_000535.7(PMS2):c.2039G>C (p.Gly680Ala)
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys) rs752950007
NM_000535.7(PMS2):c.2089A>C (p.Ile697Leu) rs1554295859
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.2112C>A (p.Asp704Glu) rs764735061
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2165G>A (p.Arg722Lys)
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met) rs1562614497
NM_000535.7(PMS2):c.2175-65_2175-61del rs1417472000
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val) rs1554294503
NM_000535.7(PMS2):c.2212G>C (p.Val738Leu) rs758225108
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr) rs1554294462
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.2275+8A>G rs878854046
NM_000535.7(PMS2):c.2276-4T>C rs1562602173
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile) rs201914670
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly) rs587781489
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile) rs766565506
NM_000535.7(PMS2):c.2378G>T (p.Ser793Ile)
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile) rs786203096
NM_000535.7(PMS2):c.2445+9A>G rs1562600132
NM_000535.7(PMS2):c.2446-19C>T rs1390101876
NM_000535.7(PMS2):c.2446-5C>G rs864622279
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly) rs2128658992
NM_000535.7(PMS2):c.2475C>T (p.Ser825=) rs776460258
NM_000535.7(PMS2):c.250+5G>C rs1458809226
NM_000535.7(PMS2):c.2503G>T (p.Gly835Trp)
NM_000535.7(PMS2):c.2541G>T (p.Arg847Ser) rs2128657332
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu) rs786201850
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser) rs876660295
NM_000535.7(PMS2):c.32C>T (p.Pro11Leu) rs1291217267
NM_000535.7(PMS2):c.426A>C (p.Lys142Asn) rs1785218841
NM_000535.7(PMS2):c.524G>T (p.Arg175Met) rs1562688735
NM_000535.7(PMS2):c.538-12dup rs1455766004
NM_000535.7(PMS2):c.566A>C (p.His189Pro) rs876660330
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr) rs2128801302
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser) rs878854055
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile) rs769967916
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu) rs587779343
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu) rs1562671039
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
NM_000535.7(PMS2):c.774_777delinsA (p.Ser258_Cys259delinsArg)
NM_000535.7(PMS2):c.774_778delinsTA (p.Cys259_Ser260delinsThr) rs1784525754
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
NM_000535.7(PMS2):c.803+7A>G rs1562669544
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg) rs546966892
NM_000535.7(PMS2):c.830C>T (p.Thr277Met) rs1805322
NM_000535.7(PMS2):c.833A>G (p.His278Arg) rs1562664434
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu) rs587782898
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser) rs1031512870
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe) rs372172981
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.989-8dup rs1333503820
NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]
NM_000536.4(RAG2):c.1295C>T (p.Pro432Leu) rs753677011
NM_000536.4(RAG2):c.353A>G (p.Lys118Arg) rs1851094033
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu)
NM_000538.4(RFXAP):c.328G>T (p.Asp110Tyr) rs2057955362
NM_000540.3(RYR1):c.11779-11G>A
NM_000540.3(RYR1):c.13153G>T (p.Asp4385Tyr) rs1227202568
NM_000540.3(RYR1):c.13244_13264del (p.Ala4415_Asp4421del) rs763413580
NM_000540.3(RYR1):c.13331_13351dup (p.Gly4444_Gly4450dup) rs1358102336
NM_000540.3(RYR1):c.13408G>A (p.Gly4470Ser)
NM_000540.3(RYR1):c.14282C>T (p.Pro4761Leu) rs373919284
NM_000540.3(RYR1):c.14809A>G (p.Ile4937Val) rs2145917369
NM_000540.3(RYR1):c.2004C>A (p.Asp668Glu) rs78835441
NM_000540.3(RYR1):c.3021C>G (p.Ser1007Arg)
NM_000540.3(RYR1):c.3268G>C (p.Glu1090Gln) rs944826130
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp) rs1568436081
NM_000540.3(RYR1):c.5688GGA[1] (p.Glu1898del) rs772076294
NM_000540.3(RYR1):c.58G>A (p.Val20Ile)
NM_000540.3(RYR1):c.6952T>C (p.Tyr2318His)
NM_000540.3(RYR1):c.7817G>A (p.Cys2606Tyr) rs1358912817
NM_000540.3(RYR1):c.9233+3A>G rs1555787274
NM_000540.3(RYR1):c.9473-3C>T
NM_000541.5(SAG):c.916G>A (p.Glu306Lys)
NM_000543.5(SMPD1):c.107delinsCGCTGGCGCTGGC (p.Val36delinsAlaLeuAlaLeuAla) rs1847861920
NM_000543.5(SMPD1):c.108GCTGGC[8] (p.38AL[8]) rs3838786
NM_000543.5(SMPD1):c.1132C>A (p.Arg378Ser)
NM_000543.5(SMPD1):c.1144C>T (p.Leu382Phe) rs281860666
NM_000543.5(SMPD1):c.1378A>C (p.Thr460Pro) rs794727705
NM_000543.5(SMPD1):c.1395T>G (p.Phe465Leu) rs1848061944
NM_000543.5(SMPD1):c.1406A>G (p.Tyr469Cys) rs267607074
NM_000543.5(SMPD1):c.1558A>C (p.Ile520Leu)
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.994C>G (p.Pro332Ala)
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000545.8(HNF1A):c.-148C>A
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.1502-9T>C
NM_000545.8(HNF1A):c.1544C>A (p.Thr515Lys) rs745460046
NM_000545.8(HNF1A):c.1747_1766dup (p.Val590fs)
NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile) rs137853241
NM_000545.8(HNF1A):c.238G>T (p.Asp80Tyr) rs76845985
NM_000545.8(HNF1A):c.680_683delinsTCCTCCACTT (p.Glu227_Glu228delinsValLeuHisLeu) rs1876937295
NM_000545.8(HNF1A):c.77T>G (p.Leu26Arg)
NM_000545.8(HNF1A):c.787C>G (p.Arg263Gly) rs771108132
NM_000545.8(HNF1A):c.794A>C (p.Tyr265Ser) rs1555212006
NM_000546.6(TP53):c.*6_*9dup rs1199379236
NM_000546.6(TP53):c.-3G>A rs2073524866
NM_000546.6(TP53):c.1100+8A>G rs878854062
NM_000546.6(TP53):c.118A>G (p.Met40Val) rs1597375159
NM_000546.6(TP53):c.11C>T (p.Pro4Leu) rs878854064
NM_000546.6(TP53):c.145G>C (p.Asp49His) rs587780728
NM_000546.6(TP53):c.185_232del (p.Glu62_Pro77del) rs1567556432
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys) rs730882014
NM_000546.6(TP53):c.263C>G (p.Ala88Gly) rs1555526631
NM_000546.6(TP53):c.344A>G (p.His115Arg) rs730881996
NM_000546.6(TP53):c.359A>T (p.Lys120Met) rs2073450819
NM_000546.6(TP53):c.375+5_375+11del rs730882021
NM_000546.6(TP53):c.388C>T (p.Leu130Phe) rs863224683
NM_000546.6(TP53):c.419_430del (p.Thr140_Gln144delinsLys) rs2073392778
NM_000546.6(TP53):c.509C>G (p.Thr170Arg) rs779000871
NM_000546.6(TP53):c.559+8G>A rs775915220
NM_000546.6(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_000546.6(TP53):c.672+9T>C rs1057521030
NM_000546.6(TP53):c.7G>C (p.Glu3Gln) rs2073524362
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.886C>T (p.His296Tyr) rs672601296
NM_000546.6(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_000546.6(TP53):c.919+5G>T rs766127339
NM_000546.6(TP53):c.973G>A (p.Gly325Arg) rs863224500
NM_000546.6(TP53):c.986C>T (p.Thr329Ile) rs969930693
NM_000546.6(TP53):c.997C>T (p.Arg333Cys) rs769934890
NM_000548.5(TSC2):c.1202A>C (p.His401Pro) rs2086691569
NM_000548.5(TSC2):c.1933G>A (p.Val645Ile) rs746677177
NM_000548.5(TSC2):c.2470C>T (p.Pro824Ser) rs1596356675
NM_000548.5(TSC2):c.3884-7C>T rs1277989059
NM_000548.5(TSC2):c.4362T>A (p.Ser1454Arg) rs1320400029
NM_000548.5(TSC2):c.4663-5C>A
NM_000550.3(TYRP1):c.810C>A (p.Ser270Arg)
NM_000551.4(VHL):c.154G>T (p.Glu52Ter) rs373068386
NM_000551.4(VHL):c.22T>G (p.Trp8Gly) rs1352171735
NM_000551.4(VHL):c.268A>T (p.Asn90Tyr) rs1559426031
NM_000551.4(VHL):c.3G>T (p.Met1Ile) rs578091032
NM_000551.4(VHL):c.449A>G (p.Asn150Ser) rs760184234
NM_000551.4(VHL):c.454A>C (p.Thr152Pro) rs1696267007
NM_000551.4(VHL):c.487C>T (p.Leu163Phe) rs1553620318
NM_000551.4(VHL):c.490C>A (p.Gln164Lys) rs5030819
NM_000551.4(VHL):c.539T>G (p.Ile180Ser) rs1559429750
NM_000552.5(VWF):c.1606C>T (p.Leu536Phe)
NM_000552.5(VWF):c.202C>T (p.Arg68Cys)
NM_000552.5(VWF):c.2138G>A (p.Gly713Asp)
NM_000552.5(VWF):c.2839A>G (p.Met947Val)
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3674+8A>G
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3749C>G (p.Ala1250Gly)
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.4238C>A (p.Pro1413Gln) rs61750079
NM_000552.5(VWF):c.4241T>G (p.Val1414Gly) rs1565831973
NM_000552.5(VWF):c.4257T>G (p.His1419Gln)
NM_000552.5(VWF):c.4324A>G (p.Ser1442Gly)
NM_000552.5(VWF):c.4353C>A (p.Asp1451Glu)
NM_000552.5(VWF):c.4439C>T (p.Pro1480Leu)
NM_000552.5(VWF):c.4642G>A (p.Val1548Met)
NM_000552.5(VWF):c.4912G>A (p.Glu1638Lys) rs61750588
NM_000552.5(VWF):c.5170+5G>A rs1591860863
NM_000552.5(VWF):c.545C>T (p.Ser182Leu)
NM_000552.5(VWF):c.5797C>T (p.Pro1933Ser)
NM_000552.5(VWF):c.652C>A (p.Gln218Lys)
NM_000552.5(VWF):c.6798+11G>A
NM_000552.5(VWF):c.7551C>T (p.Val2517=)
NM_000552.5(VWF):c.824G>C (p.Cys275Ser) rs2136474280
NM_000552.5(VWF):c.8366C>G (p.Thr2789Ser) rs371036946
NM_000553.6(WRN):c.3589A>C (p.Asn1197His) rs1480573176
NM_000553.6(WRN):c.3946A>G (p.Ile1316Val) rs750389299
NM_000557.5(GDF5):c.1448A>G (p.Asn483Ser) rs371230143
NM_000558.3(HBA1):c.310C>T (p.His104Tyr) rs28928884
NM_000558.5(HBA1):c.-3_-2del
NM_000558.5(HBA1):c.142G>C (p.Asp48His)
NM_000558.5(HBA1):c.98T>A (p.Met33Lys) rs281864566
NM_000593.6(TAP1):c.2239C>T (p.Pro747Ser)
NM_000612.6(IGF2):c.100G>A (p.Gly34Ser) rs1858937359
NM_000612.6(IGF2):c.232G>A (p.Ala78Thr)
NM_000631.5(NCF4):c.729C>A (p.Tyr243Ter)
NM_000631.5(NCF4):c.758+99_758+101delinsC
NM_000631.5(NCF4):c.759-40C>T
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp) rs1131691438
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu) rs569268763
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
NM_000642.3(AGL):c.4514del (p.Asn1505fs) rs2100901643
NM_000682.7(ADRA2B):c.636dup (p.Pro213fs) rs756613487
NM_000701.8(ATP1A1):c.12+3G>T
NM_000702.4(ATP1A2):c.1118C>G (p.Ser373Trp)
NM_000702.4(ATP1A2):c.1769A>T (p.Asp590Val) rs1570990507
NM_000702.4(ATP1A2):c.319A>G (p.Ile107Val) rs2101985456
NM_000702.4(ATP1A2):c.671C>A (p.Thr224Asn)
NM_000702.4(ATP1A2):c.695A>G (p.Glu232Gly)
NM_000709.4(BCKDHA):c.335T>C (p.Leu112Pro)
NM_000709.4(BCKDHA):c.485G>A (p.Gly162Asp)
NM_000709.4(BCKDHA):c.892G>A (p.Val298Met) rs1253348004
NM_000718.4(CACNA1B):c.1222GAG[1] (p.Glu409del)
NM_000718.4(CACNA1B):c.2651A>T (p.Glu884Val) rs2133438747
NM_000718.4(CACNA1B):c.6745G>A (p.Ala2249Thr)
NM_000719.7(CACNA1C):c.248G>A (p.Arg83Gln) rs774931483
NM_000719.7(CACNA1C):c.3913-18A>G
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
NM_000719.7(CACNA1C):c.5574-13C>A rs1265215318
NM_000719.7(CACNA1C):c.5870C>A (p.Ala1957Asp) rs1323011590
NM_000719.7(CACNA1C):c.6123G>C (p.Leu2041Phe) rs998497258
NM_000732.6(CD3D):c.55+6G>C
NM_000733.4(CD3E):c.281G>C (p.Gly94Ala) rs1565511330
NM_000742.4(CHRNA2):c.1350G>T (p.Lys450Asn)
NM_000742.4(CHRNA2):c.177G>C (p.Glu59Asp)
NM_000742.4(CHRNA2):c.529G>C (p.Ala177Pro) rs796052298
NM_000744.7(CHRNA4):c.1220C>T (p.Ser407Phe) rs761335733
NM_000744.7(CHRNA4):c.1759-17G>C
NM_000784.4(CYP27A1):c.53G>T (p.Arg18Leu) rs2106479070
NM_000784.4(CYP27A1):c.63C>G (p.Cys21Trp) rs781222632
NM_000784.4(CYP27A1):c.68A>G (p.His23Arg) rs1943398664
NM_000784.4(CYP27A1):c.74C>G (p.Ala25Gly) rs2106479103
NM_000797.4(DRD4):c.406GCCGTG[1] (p.136AV[1])
NM_000808.4(GABRA3):c.512T>C (p.Leu171Pro)
NM_000814.6(GABRB3):c.241-4C>G
NM_000823.4(GHRHR):c.989C>T (p.Ser330Leu)
NM_000824.5(GLRB):c.527G>C (p.Arg176Thr)
NM_000824.5(GLRB):c.765C>G (p.Cys255Trp)
NM_000827.4(GRIA1):c.1215G>C (p.Gln405His)
NM_000829.4(GRIA4):c.2617G>A (p.Val873Ile) rs1158277612
NM_000829.4(GRIA4):c.280A>G (p.Ile94Val)
NM_000834.5(GRIN2B):c.1694T>G (p.Met565Arg)
NM_000834.5(GRIN2B):c.2341C>A (p.Leu781Met) rs1064796752
NM_000834.5(GRIN2B):c.3322G>A (p.Ala1108Thr)
NM_000834.5(GRIN2B):c.3952G>A (p.Ala1318Thr)
NM_000836.4(GRIN2D):c.156C>A (p.Asn52Lys)
NM_000836.4(GRIN2D):c.2236A>G (p.Thr746Ala)
NM_000836.4(GRIN2D):c.223G>A (p.Ala75Thr) rs2147434423
NM_000836.4(GRIN2D):c.2392C>G (p.Arg798Gly)
NM_000836.4(GRIN2D):c.2711C>G (p.Pro904Arg)
NM_000836.4(GRIN2D):c.2761C>T (p.Pro921Ser)
NM_000836.4(GRIN2D):c.3756G>C (p.Arg1252Ser)
NM_000875.5(IGF1R):c.1799A>C (p.Glu600Ala)
NM_000875.5(IGF1R):c.836G>A (p.Arg279His)
NM_000891.3(KCNJ2):c.8G>C (p.Ser3Thr)
NM_000899.5(KITLG):c.151_153del (p.Tyr51del)
NM_000901.5(NR3C2):c.2153C>T (p.Ser718Leu)
NM_000921.5(PDE3A):c.1801C>T (p.Pro601Ser)
NM_000921.5(PDE3A):c.1955A>C (p.Lys652Thr)
NM_000921.5(PDE3A):c.905G>A (p.Gly302Asp)
NM_000925.4(PDHB):c.3G>C (p.Met1Ile)
NM_000937.5(POLR2A):c.680G>A (p.Arg227His)
NM_000942.5(PPIB):c.528+5G>A
NM_000944.5(PPP3CA):c.1491C>A (p.Asn497Lys)
NM_000944.5(PPP3CA):c.836G>A (p.Arg279Gln) rs2110240857
NM_000988.5(RPL27):c.145_147delinsCAG (p.Tyr49Gln)
NM_001001344.3(ATP2B3):c.2158G>C (p.Gly720Arg) rs782081961
NM_001001548.3(CD36):c.1416_*1del (p.Lys472fs) rs771061715
NM_001001548.3(CD36):c.424G>A (p.Val142Met)
NM_001002294.3(FMO3):c.-6-1G>C
NM_001002294.3(FMO3):c.919A>C (p.Thr307Pro)
NM_001002295.2(GATA3):c.89G>A (p.Gly30Asp) rs1588374874
NM_001002755.4(NFU1):c.721-1G>A
NM_001003694.2(BRPF1):c.2107T>G (p.Phe703Val) rs1337408318
NM_001003694.2(BRPF1):c.316C>T (p.Arg106Cys)
NM_001003722.2(GLE1):c.1881+5G>A
NM_001003722.2(GLE1):c.2006T>A (p.Ile669Lys)
NM_001003800.2(BICD2):c.-2C>T
NM_001003800.2(BICD2):c.1617C>G (p.His539Gln)
NM_001003841.3(SLC6A19):c.1213G>A (p.Glu405Lys)
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr) rs200586695
NM_001005242.3(PKP2):c.1379-1966del rs1555144717
NM_001005242.3(PKP2):c.1379-1985A>G rs1193122924
NM_001005242.3(PKP2):c.1928T>G (p.Leu643Arg) rs794729113
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=) rs1956373944
NM_001005242.3(PKP2):c.2168-8T>C rs1565572439
NM_001005242.3(PKP2):c.2182C>T (p.Pro728Ser)
NM_001005242.3(PKP2):c.2183C>T (p.Pro728Leu)
NM_001005242.3(PKP2):c.337-9C>A rs781357829
NM_001005273.3(CHD3):c.121C>A (p.Leu41Met)
NM_001005273.3(CHD3):c.1588G>A (p.Ala530Thr)
NM_001005273.3(CHD3):c.3895A>T (p.Ile1299Phe)
NM_001005273.3(CHD3):c.5684G>A (p.Arg1895His)
NM_001005361.3(DNM2):c.586C>G (p.Gln196Glu)
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys) rs2071430985
NM_001005741.3(GBA1):c.-68-82A>G
NM_001007228.2(SPOP):c.565G>T (p.Glu189Ter) rs2143193766
NM_001008216.2(GALE):c.118C>T (p.Arg40Cys)
NM_001008216.2(GALE):c.632A>G (p.Tyr211Cys)
NM_001008216.2(GALE):c.796A>C (p.Ile266Leu)
NM_001008216.2(GALE):c.820G>C (p.Gly274Arg)
NM_001008537.3(NEXMIF):c.1060G>A (p.Ala354Thr)
NM_001008537.3(NEXMIF):c.1417T>C (p.Ser473Pro) rs891017786
NM_001008537.3(NEXMIF):c.2018G>T (p.Gly673Val)
NM_001008537.3(NEXMIF):c.2837A>G (p.Asn946Ser)
NM_001009944.3(PKD1):c.10601C>T (p.Ala3534Val)
NM_001009944.3(PKD1):c.2233G>A (p.Ala745Thr)
NM_001009944.3(PKD1):c.303C>G (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.3727T>G (p.Trp1243Gly) rs2151800134
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.4252A>T (p.Thr1418Ser)
NM_001009944.3(PKD1):c.4979C>G (p.Thr1660Ser)
NM_001009944.3(PKD1):c.5036G>A (p.Ser1679Asn) rs756419129
NM_001009944.3(PKD1):c.6017G>C (p.Trp2006Ser)
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys)
NM_001009944.3(PKD1):c.641G>C (p.Cys214Ser)
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp) rs2151787670
NM_001009944.3(PKD1):c.6865G>A (p.Gly2289Ser)
NM_001009944.3(PKD1):c.8086C>T (p.Leu2696Phe)
NM_001009944.3(PKD1):c.8162-13C>G
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009999.3(KDM1A):c.2314G>A (p.Val772Met) rs2124555975
NM_001009999.3(KDM1A):c.833G>A (p.Arg278His)
NM_001009999.3(KDM1A):c.954_955del (p.Ser319fs)
NM_001010867.4(IBA57):c.-10C>G
NM_001010867.4(IBA57):c.560G>A (p.Arg187His)
NM_001010898.4(SLC6A17):c.2139T>A (p.Tyr713Ter)
NM_001012759.3(CTU2):c.1399C>T (p.Arg467Cys) rs139862860
NM_001017980.4(VMA21):c.-486C>T
NM_001018005.2(TPM1):c.253G>T (p.Val85Leu) rs730881156
NM_001018005.2(TPM1):c.25C>T (p.Gln9Ter)
NM_001018005.2(TPM1):c.46G>C (p.Glu16Gln) rs727504290
NM_001018005.2(TPM1):c.625G>T (p.Ala209Ser) rs730881159
NM_001020658.2(PUM1):c.535A>G (p.Thr179Ala)
NM_001022.4(RPS19):c.172+3G>A
NM_001022.4(RPS19):c.20_22delinsCTCCAGCATCCAGTT (p.Lys7_Asp8delinsThrProAlaSerSerTyr)
NM_001024630.4(RUNX2):c.423+3A>G
NM_001025.5(RPS23):c.58C>G (p.Gln20Glu)
NM_001025295.3(IFITM5):c.94C>T (p.Pro32Ser)
NM_001025356.3(ANO6):c.1880+17A>G
NM_001025356.3(ANO6):c.2107G>T (p.Ala703Ser)
NM_001025356.3(ANO6):c.239G>A (p.Arg80Lys)
NM_001025356.3(ANO6):c.2418C>T (p.Cys806=)
NM_001025356.3(ANO6):c.586A>G (p.Ile196Val)
NM_001025603.2(RFX5):c.1146del (p.Asn382fs) rs2102060624
NM_001025603.2(RFX5):c.1177G>A (p.Gly393Arg) rs2102060534
NM_001025603.2(RFX5):c.1396C>T (p.Arg466Trp) rs1557830458
NM_001025603.2(RFX5):c.1771G>A (p.Gly591Ser) rs1650509739
NM_001032221.6(STXBP1):c.605C>T (p.Ala202Val) rs1841236507
NM_001032283.3(TMPO):c.190G>A (p.Asp64Asn) rs1462361337
NM_001032283.3(TMPO):c.19G>C (p.Asp7His)
NM_001032283.3(TMPO):c.279+19G>A rs1233664962
NM_001032283.3(TMPO):c.565+1242A>G
NM_001032283.3(TMPO):c.565+1548A>G rs779658294
NM_001032283.3(TMPO):c.565+1777G>C
NM_001032283.3(TMPO):c.565+1819A>G rs1479099731
NM_001032283.3(TMPO):c.565+1983del
NM_001032283.3(TMPO):c.565+2138T>G
NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp) rs200715521
NM_001032382.2(PQBP1):c.641+13C>T
NM_001032386.2(SUOX):c.1040T>C (p.Leu347Pro) rs1890659461
NM_001032386.2(SUOX):c.352C>T (p.His118Tyr)
NM_001033855.3(DCLRE1C):c.1696_1699dup (p.Ser567fs)
NM_001033855.3(DCLRE1C):c.1903dup (p.Ser635fs) rs760288938
NM_001033855.3(DCLRE1C):c.2050_2053del (p.Lys684fs)
NM_001033855.3(DCLRE1C):c.328C>G (p.Leu110Val)
NM_001034116.2(EIF2B4):c.1346C>T (p.Thr449Ile) rs2148368349
NM_001034116.2(EIF2B4):c.1567C>T (p.Gln523Ter)
NM_001034853.2(RPGR):c.1286C>T (p.Pro429Leu) rs2067408372
NM_001034853.2(RPGR):c.2180T>A (p.Met727Lys)
NM_001034853.2(RPGR):c.878G>T (p.Arg293Met)
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser) rs201749277
NM_001035.3(RYR2):c.10703del (p.Val3568fs) rs1690189277
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
NM_001035.3(RYR2):c.12463T>A (p.Ser4155Thr) rs1060500135
NM_001035.3(RYR2):c.12791T>G (p.Leu4264Arg) rs2149355228
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp) rs371680410
NM_001035.3(RYR2):c.13957-10A>C
NM_001035.3(RYR2):c.14090+3_14090+6dup
NM_001035.3(RYR2):c.14590+7A>G rs1553339087
NM_001035.3(RYR2):c.1468C>T (p.Gln490Ter) rs2150218274
NM_001035.3(RYR2):c.14757-6del rs1663791400
NM_001035.3(RYR2):c.14757-8dup rs1663790050
NM_001035.3(RYR2):c.1803del (p.Asp602fs) rs2150413242
NM_001035.3(RYR2):c.1997G>A (p.Gly666Asp) rs1428072554
NM_001035.3(RYR2):c.2119C>T (p.Pro707Ser)
NM_001035.3(RYR2):c.2218A>T (p.Thr740Ser) rs779813798
NM_001035.3(RYR2):c.2350A>G (p.Ile784Val) rs794728729
NM_001035.3(RYR2):c.2433C>G (p.Phe811Leu)
NM_001035.3(RYR2):c.2613+8G>A rs776678807
NM_001035.3(RYR2):c.274-7T>C rs2149691778
NM_001035.3(RYR2):c.2804T>C (p.Met935Thr) rs1665922680
NM_001035.3(RYR2):c.2825C>T (p.Thr942Ile)
NM_001035.3(RYR2):c.2877C>A (p.Asp959Glu) rs1042196921
NM_001035.3(RYR2):c.2983A>G (p.Met995Val)
NM_001035.3(RYR2):c.3067-1G>A
NM_001035.3(RYR2):c.3503T>C (p.Met1168Thr) rs778702831
NM_001035.3(RYR2):c.3596A>G (p.Asp1199Gly) rs149760466
NM_001035.3(RYR2):c.463+7A>C
NM_001035.3(RYR2):c.464-10A>G rs1257588740
NM_001035.3(RYR2):c.4784T>C (p.Leu1595Pro)
NM_001035.3(RYR2):c.5364G>C (p.Lys1788Asn)
NM_001035.3(RYR2):c.5384T>G (p.Leu1795Arg)
NM_001035.3(RYR2):c.596G>A (p.Gly199Asp)
NM_001035.3(RYR2):c.6022+14G>A rs1370132495
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly) rs878854160
NM_001035.3(RYR2):c.6167-7T>C rs1679840771
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp) rs753164125
NM_001035.3(RYR2):c.640G>A (p.Val214Met) rs1036926941
NM_001035.3(RYR2):c.6555+8C>G rs1759122
NM_001035.3(RYR2):c.6793-4G>T rs568936247
NM_001035.3(RYR2):c.6838C>G (p.Leu2280Val) rs1681098060
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu) rs727503401
NM_001035.3(RYR2):c.749G>T (p.Gly250Val) rs376925177
NM_001035.3(RYR2):c.7546C>T (p.Leu2516Phe) rs775400701
NM_001035.3(RYR2):c.7860T>A (p.Tyr2620Ter) rs1415898681
NM_001035.3(RYR2):c.7903GAA[2] (p.Glu2637del) rs1217786961
NM_001035.3(RYR2):c.9129-2A>G rs1558245390
NM_001035.3(RYR2):c.9344A>G (p.His3115Arg)
NM_001035.3(RYR2):c.9361del (p.Asp3120_Leu3121insTer) rs1687868371
NM_001035.3(RYR2):c.9559A>T (p.Lys3187Ter) rs939109036
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.448+135del rs761070541
NM_001037.5(SCN1B):c.448+189C>T rs766373298
NM_001037.5(SCN1B):c.448+337G>T rs369032304
NM_001037333.3(CYFIP2):c.1369A>G (p.Ile457Val)
NM_001037333.3(CYFIP2):c.1477G>A (p.Glu493Lys)
NM_001037333.3(CYFIP2):c.2909-16C>T
NM_001037333.3(CYFIP2):c.666+18G>A
NM_001039141.3(TRIOBP):c.3737C>T (p.Pro1246Leu)
NM_001039141.3(TRIOBP):c.5890C>G (p.Arg1964Gly) rs565618931
NM_001039591.3(USP9X):c.2636+15A>G rs2147118360
NM_001039591.3(USP9X):c.6631G>A (p.Asp2211Asn)
NM_001039876.3(SYNE4):c.1173del (p.Tyr392fs) rs1326133563
NM_001039876.3(SYNE4):c.973-2A>T
NM_001039958.2(MESP2):c.1A>G (p.Met1Val)
NM_001039958.2(MESP2):c.229G>A (p.Gly77Arg)
NM_001039958.2(MESP2):c.401_411dup (p.Val138fs) rs1218757887
NM_001039958.2(MESP2):c.832_838delinsACCCCTTG (p.Cys278fs)
NM_001039958.2(MESP2):c.837del (p.Trp280fs)
NM_001040142.2(SCN2A):c.1156T>C (p.Trp386Arg)
NM_001040142.2(SCN2A):c.1165C>A (p.Leu389Ile)
NM_001040142.2(SCN2A):c.2764C>T (p.Arg922Cys) rs1008211605
NM_001040142.2(SCN2A):c.3630C>G (p.Phe1210Leu) rs371422797
NM_001040142.2(SCN2A):c.4736T>C (p.Val1579Ala) rs1384116109
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) rs796052029
NM_001040716.2(PC):c.736G>A (p.Glu246Lys)
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001042424.3(NSD2):c.1545A>C (p.Glu515Asp)
NM_001042424.3(NSD2):c.331C>T (p.Pro111Ser) rs541714722
NM_001042424.3(NSD2):c.597+17G>A
NM_001042432.2(CLN3):c.443_445del (p.Val148del) rs752130042
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042432.2(CLN3):c.917T>A (p.Leu306His)
NM_001042492.3(NF1):c.*11CTTT[1]
NM_001042492.3(NF1):c.1322A>G (p.Asn441Ser) rs370020114
NM_001042492.3(NF1):c.1400C>A (p.Thr467Lys) rs1567841729
NM_001042492.3(NF1):c.1528-9dup rs776722942
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_001042492.3(NF1):c.1955G>C (p.Arg652Pro) rs587778549
NM_001042492.3(NF1):c.1969T>A (p.Ser657Thr) rs1471484159
NM_001042492.3(NF1):c.1988G>A (p.Gly663Glu) rs2066993661
NM_001042492.3(NF1):c.2447G>C (p.Arg816Pro) rs762709897
NM_001042492.3(NF1):c.2761G>A (p.Val921Met) rs567023433
NM_001042492.3(NF1):c.2850+17T>A
NM_001042492.3(NF1):c.3679C>G (p.Leu1227Val) rs876660431
NM_001042492.3(NF1):c.3797A>G (p.Glu1266Gly)
NM_001042492.3(NF1):c.3833A>T (p.Asn1278Ile) rs2067188951
NM_001042492.3(NF1):c.389A>G (p.His130Arg) rs876660277
NM_001042492.3(NF1):c.3912A>T (p.Leu1304Phe) rs2151438597
NM_001042492.3(NF1):c.4069T>C (p.Phe1357Leu) rs1207255352
NM_001042492.3(NF1):c.4430+14del rs774927748
NM_001042492.3(NF1):c.4507A>C (p.Asn1503His) rs1555618837
NM_001042492.3(NF1):c.4787C>G (p.Ala1596Gly) rs1567865042
NM_001042492.3(NF1):c.4790G>T (p.Gly1597Val) rs2067766230
NM_001042492.3(NF1):c.5134C>A (p.Pro1712Thr) rs1567611556
NM_001042492.3(NF1):c.545A>G (p.Tyr182Cys) rs2143707725
NM_001042492.3(NF1):c.5476C>G (p.His1826Asp) rs1135402871
NM_001042492.3(NF1):c.5563C>T (p.Leu1855Phe) rs2069385474
NM_001042492.3(NF1):c.6365C>T (p.Thr2122Ile) rs878853907
NM_001042492.3(NF1):c.6428-3C>A rs374014162
NM_001042492.3(NF1):c.655-5T>C rs377264487
NM_001042492.3(NF1):c.6702A>G (p.Gln2234=)
NM_001042492.3(NF1):c.6805C>T (p.Arg2269Cys) rs1555534961
NM_001042492.3(NF1):c.6819+5C>A rs876659499
NM_001042492.3(NF1):c.6978T>C (p.Asp2326=) rs1135402896
NM_001042492.3(NF1):c.7190-6T>C rs1597858313
NM_001042492.3(NF1):c.731-8del rs1438618408
NM_001042492.3(NF1):c.7842G>T (p.Lys2614Asn) rs1555536710
NM_001042492.3(NF1):c.8162A>G (p.Gln2721Arg) rs876657933
NM_001042492.3(NF1):c.8360C>T (p.Thr2787Ile)
NM_001042492.3(NF1):c.8378-13T>C rs903336927
NM_001042492.3(NF1):c.959C>A (p.Ala320Asp) rs1555610884
NM_001042517.2(DIAPH3):c.1885A>T (p.Ile629Phe)
NM_001042545.2(LTBP4):c.2150_2168delinsTCACCCT (p.Gln717_Ser723delinsLeuThrLeu)
NM_001042545.2(LTBP4):c.3866G>A (p.Gly1289Glu) rs754438295
NM_001042545.2(LTBP4):c.4589del (p.Asp1530fs)
NM_001042631.3(SDHAF1):c.116A>C (p.His39Pro)
NM_001042631.3(SDHAF1):c.43T>C (p.Tyr15His)
NM_001042646.3(TRAK1):c.1A>G (p.Met1Val)
NM_001042681.2(RERE):c.1541-3_1541-1delinsAAT rs2124375445
NM_001042681.2(RERE):c.2810C>T (p.Pro937Leu)
NM_001042681.2(RERE):c.2818C>T (p.Pro940Ser)
NM_001042681.2(RERE):c.3739G>A (p.Gly1247Arg)
NM_001042681.2(RERE):c.3791T>C (p.Val1264Ala)
NM_001042681.2(RERE):c.3841A>C (p.Thr1281Pro)
NM_001042681.2(RERE):c.4626C>A (p.His1542Gln)
NM_001044385.3(TMEM237):c.553+4del rs1957812369
NM_001048174.2(MUTYH):c.-6-5T>G rs876660715
NM_001048174.2(MUTYH):c.1010A>T (p.Lys337Met) rs1553126588
NM_001048174.2(MUTYH):c.1031C>T (p.Ser344Phe) rs763862261
NM_001048174.2(MUTYH):c.1055C>G (p.Pro352Arg) rs774441289
NM_001048174.2(MUTYH):c.115+3A>G rs1553131280
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val) rs144079536
NM_001048174.2(MUTYH):c.1305G>C (p.Gln435His) rs1434384304
NM_001048174.2(MUTYH):c.1392+7C>T rs1570361183
NM_001048174.2(MUTYH):c.1411G>A (p.Gly471Ser) rs1553124088
NM_001048174.2(MUTYH):c.1434+10C>G rs1644612688
NM_001048174.2(MUTYH):c.1525A>C (p.Ile509Leu) rs757615745
NM_001048174.2(MUTYH):c.305-7C>T rs863224698
NM_001048174.2(MUTYH):c.365C>T (p.Thr122Ile) rs745507536
NM_001048174.2(MUTYH):c.420G>A (p.Glu140=) rs876658641
NM_001048174.2(MUTYH):c.479_492+1del rs766553845
NM_001048174.2(MUTYH):c.480G>C (p.Glu160Asp) rs1335408660
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser) rs764458059
NM_001048174.2(MUTYH):c.487C>T (p.Arg163Trp) rs761101420
NM_001048174.2(MUTYH):c.502G>A (p.Glu168Lys) rs745921592
NM_001048174.2(MUTYH):c.518T>C (p.Met173Thr) rs1553128600
NM_001048174.2(MUTYH):c.568T>A (p.Tyr190Asn) rs745808534
NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser) rs587782351
NM_001048174.2(MUTYH):c.652G>A (p.Val218Ile) rs587780749
NM_001048174.2(MUTYH):c.65G>A (p.Arg22Lys) rs1376695165
NM_001048174.2(MUTYH):c.850-6T>G
NM_001048174.2(MUTYH):c.854A>T (p.Glu285Val) rs1644998333
NM_001048174.2(MUTYH):c.872C>T (p.Ala291Val) rs1570395209
NM_001048174.2(MUTYH):c.929_930delinsGC (p.Gln310Arg) rs587780083
NM_001060.6(TBXA2R):c.*841A>G
NM_001060.6(TBXA2R):c.999G>T (p.Gln333His)
NM_001061.7(TBXAS1):c.1365-10G>A rs765137338
NM_001061.7(TBXAS1):c.848T>C (p.Leu283Pro)
NM_001064.4(TKT):c.1016_1019dup (p.Asp341fs)
NM_001077207.4(SEC31A):c.2833C>T (p.Pro945Ser)
NM_001077207.4(SEC31A):c.511A>G (p.Ile171Val)
NM_001077207.4(SEC31A):c.944del (p.Asn315fs)
NM_001077350.3(NPRL3):c.630-10CT[2]
NM_001077365.2(POMT1):c.1093G>C (p.Val365Leu)
NM_001077365.2(POMT1):c.1704G>C (p.Gln568His) rs119462986
NM_001077365.2(POMT1):c.2138G>A (p.Arg713His) rs938573554
NM_001077365.2(POMT1):c.506C>G (p.Ser169Cys)
NM_001077415.3(CRELD1):c.*184G>A
NM_001077418.3(TMEM231):c.469G>C (p.Ala157Pro) rs776437833
NM_001077418.3(TMEM231):c.497C>T (p.Pro166Leu) rs549400559
NM_001077418.3(TMEM231):c.86T>C (p.Leu29Pro)
NM_001077446.4(TSEN34):c.250A>G (p.Thr84Ala) rs2147079233
NM_001077446.4(TSEN34):c.488-2A>C
NM_001079.4(ZAP70):c.1274T>A (p.Phe425Tyr) rs764958623
NM_001079.4(ZAP70):c.1748G>A (p.Arg583His) rs1017182331
NM_001079.4(ZAP70):c.790+12_790+15dup rs761349565
NM_001079668.3(NKX2-1):c.463+3_463+6del rs1881201190
NM_001079802.2(FKTN):c.105+6T>C rs754468850
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala) rs142783718
NM_001079802.2(FKTN):c.665T>A (p.Val222Asp)
NM_001079802.2(FKTN):c.911-13A>G rs766103012
NM_001079866.2(BCS1L):c.167G>A (p.Arg56Gln)
NM_001079866.2(BCS1L):c.487G>A (p.Glu163Lys)
NM_001080414.4(CCDC88C):c.2171C>T (p.Ala724Val)
NM_001080414.4(CCDC88C):c.2233G>A (p.Asp745Asn)
NM_001080414.4(CCDC88C):c.2416C>T (p.Leu806Phe)
NM_001080414.4(CCDC88C):c.3811G>A (p.Glu1271Lys)
NM_001080414.4(CCDC88C):c.46C>T (p.Pro16Ser)
NM_001080426.3(STYXL2):c.2912_2913del (p.Thr971fs) rs572127797
NM_001080449.3(DNA2):c.1059A>T (p.Glu353Asp)
NM_001080449.3(DNA2):c.1061T>A (p.Leu354Ter) rs2133402732
NM_001080449.3(DNA2):c.1289C>T (p.Thr430Ile)
NM_001080449.3(DNA2):c.1763+12T>C
NM_001080449.3(DNA2):c.193C>T (p.Arg65Cys) rs540241779
NM_001080449.3(DNA2):c.52G>T (p.Glu18Ter) rs1554911818
NM_001080449.3(DNA2):c.984_985insAA (p.Glu329fs)
NM_001080453.3(INTS1):c.5470A>G (p.Ser1824Gly)
NM_001080517.3(SETD5):c.1513C>T (p.His505Tyr)
NM_001080517.3(SETD5):c.2758G>A (p.Val920Ile) rs1053026933
NM_001080517.3(SETD5):c.316T>C (p.Cys106Arg)
NM_001080779.2(MYO1C):c.185C>T (p.Ala62Val)
NM_001081.4(CUBN):c.8909G>A (p.Arg2970His)
NM_001081550.2(THOC2):c.587T>A (p.Ile196Asn)
NM_001081550.2(THOC2):c.923A>G (p.Gln308Arg) rs2147807004
NM_001082538.3(TCTN1):c.1004_1013delinsCCTCACATACACAGCCTCACATACACAG (p.Asp335_Glu338delinsAlaSerHisThrGlnProHisIleHisArg)
NM_001082538.3(TCTN1):c.32_43del (p.Val11_Leu14del) rs2135826994
NM_001083116.3(PRF1):c.1034C>T (p.Pro345Leu) rs28933374
NM_001083116.3(PRF1):c.380A>G (p.Asn127Ser) rs202091142
NM_001083116.3(PRF1):c.443C>G (p.Ala148Gly) rs142012387
NM_001083116.3(PRF1):c.540-1G>T
NM_001083116.3(PRF1):c.797T>C (p.Ile266Thr) rs763667216
NM_001083603.3(PTCH1):c.17G>C (p.Arg6Thr)
NM_001083603.3(PTCH1):c.95C>T (p.Thr32Ile)
NM_001083961.2(WDR62):c.3811G>A (p.Ala1271Thr)
NM_001083962.2(TCF4):c.1147-3C>G rs2056333687
NM_001085049.3(MRAS):c.-7G>A rs368097379
NM_001085049.3(MRAS):c.271G>A (p.Val91Ile)
NM_001085458.2(CTNND1):c.1423A>G (p.Thr475Ala)
NM_001089.3(ABCA3):c.1112-20G>A
NM_001089.3(ABCA3):c.115C>A (p.Leu39Ile)
NM_001089.3(ABCA3):c.1611+6G>A
NM_001089.3(ABCA3):c.2012G>A (p.Arg671His) rs759555069
NM_001089.3(ABCA3):c.2880G>C (p.Leu960Phe) rs1022923684
NM_001089.3(ABCA3):c.3579C>G (p.Ile1193Met)
NM_001089.3(ABCA3):c.4297G>C (p.Glu1433Gln)
NM_001089.3(ABCA3):c.537G>C (p.Trp179Cys)
NM_001098511.3(KIF2A):c.1031G>A (p.Arg344Gln)
NM_001098511.3(KIF2A):c.2136A>T (p.Leu712Phe)
NM_001098514.3(C16orf89):c.479del (p.Asp160fs)
NM_001098671.2(RASGRP2):c.1133A>T (p.Tyr378Phe)
NM_001098671.2(RASGRP2):c.1159C>G (p.Arg387Gly)
NM_001098671.2(RASGRP2):c.456C>G (p.His152Gln)
NM_001098816.3(TENM4):c.5383G>A (p.Val1795Met)
NM_001098816.3(TENM4):c.7262A>T (p.Tyr2421Phe)
NM_001098816.3(TENM4):c.7912C>T (p.Arg2638Trp)
NM_001099287.2(NIPAL4):c.-103_-99delinsT rs1754050150
NM_001099287.2(NIPAL4):c.11G>A (p.Arg4Gln)
NM_001099857.5(IKBKG):c.1060G>A (p.Glu354Lys) rs782406063
NM_001101.5(ACTB):c.213C>G (p.Ile71Met) rs752744378
NM_001101.5(ACTB):c.984+3G>A
NM_001101362.3(KBTBD13):c.197G>A (p.Arg66His) rs939242678
NM_001101362.3(KBTBD13):c.335C>A (p.Ala112Glu)
NM_001101362.3(KBTBD13):c.742C>A (p.Arg248Ser) rs200549195
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001102416.3(KNG1):c.727T>G (p.Ser243Ala)
NM_001102469.2(LIPN):c.108+1G>A rs928347834
NM_001102469.2(LIPN):c.1092C>A (p.Tyr364Ter)
NM_001102469.2(LIPN):c.1112G>A (p.Trp371Ter)
NM_001102469.2(LIPN):c.246T>G (p.Tyr82Ter) rs745861312
NM_001102469.2(LIPN):c.58G>T (p.Gly20Ter)
NM_001103.4(ACTN2):c.1098G>C (p.Lys366Asn) rs1243320734
NM_001103.4(ACTN2):c.126+13C>T rs1440134547
NM_001103.4(ACTN2):c.1564G>A (p.Ala522Thr) rs1455367143
NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr) rs1659517244
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter) rs2102947099
NM_001103.4(ACTN2):c.2331T>G (p.Asp777Glu)
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.399G>A (p.Met133Ile)
NM_001103.4(ACTN2):c.698-4T>A rs1402138776
NM_001103146.3(GIGYF2):c.1317G>C (p.Gln439His)
NM_001105206.3(LAMA4):c.1077+13G>C
NM_001105206.3(LAMA4):c.5066A>T (p.His1689Leu)
NM_001105247.2(ARMC5):c.1456A>C (p.Met486Leu)
NM_001109878.2(TBX22):c.868G>A (p.Val290Ile) rs2147602532
NM_001110219.3(GJB6):c.159C>A (p.Cys53Ter)
NM_001110219.3(GJB6):c.376del (p.Val126fs) rs2137332907
NM_001110556.2(FLNA):c.*11C>T
NM_001110556.2(FLNA):c.1117T>A (p.Tyr373Asn) rs2148118056
NM_001110556.2(FLNA):c.1628A>G (p.Tyr543Cys) rs41304984
NM_001110556.2(FLNA):c.2405-8_2405-5dup rs782040815
NM_001110556.2(FLNA):c.2788G>A (p.Asp930Asn)
NM_001110556.2(FLNA):c.2826+20C>T
NM_001110556.2(FLNA):c.393C>A (p.Asp131Glu)
NM_001110556.2(FLNA):c.4142+17G>A
NM_001110556.2(FLNA):c.4A>T (p.Ser2Cys)
NM_001110556.2(FLNA):c.521G>A (p.Gly174Asp) rs1557179659
NM_001110556.2(FLNA):c.6372C>G (p.His2124Gln) rs781999359
NM_001110792.2(MECP2):c.1116_1117delinsTA (p.Pro373Thr) rs2148661261
NM_001110792.2(MECP2):c.1345C>A (p.Gln449Lys) rs1569548273
NM_001110792.2(MECP2):c.344G>A (p.Gly115Asp) rs267608450
NM_001110792.2(MECP2):c.62+5439T>C rs2148763055
NM_001110792.2(MECP2):c.631C>A (p.Pro211Thr)
NM_001110792.2(MECP2):c.661G>T (p.Val221Leu) rs2065951467
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.806C>A (p.Ala269Asp)
NM_001111067.4(ACVR1):c.271G>A (p.Val91Met)
NM_001111125.3(IQSEC2):c.2404A>G (p.Met802Val)
NM_001111125.3(IQSEC2):c.2781CCT[1] (p.Leu929del) rs1602271471
NM_001111125.3(IQSEC2):c.619C>T (p.Arg207Cys)
NM_001112741.2(KCNC1):c.138C>G (p.Phe46Leu) rs1848763448
NM_001113491.2(SEPTIN9):c.19+2del
NM_001113525.2(ZNF276):c.*631G>A
NM_001114134.2(EPB42):c.1A>G (p.Met1Val)
NM_001114134.2(EPB42):c.971+8_971+9delinsAA rs2142290623
NM_001114748.2(TMEM240):c.445G>A (p.Glu149Lys)
NM_001114753.3(ENG):c.492C>A (p.Asp164Glu)
NM_001122752.2(SERPINI1):c.757A>T (p.Met253Leu)
NM_001122769.3(LCA5):c.1979del (p.Ser660fs)
NM_001122769.3(LCA5):c.2011C>T (p.Arg671Ter) rs765762174
NM_001122955.4(BSCL2):c.178C>T (p.Pro60Ser)
NM_001123385.2(BCOR):c.3340G>C (p.Glu1114Gln) rs757991049
NM_001123385.2(BCOR):c.935_936delinsCC (p.Gln312Pro)
NM_001126049.2(KLLN):c.-1031G>A rs1858333383
NM_001126049.2(KLLN):c.-1040C>A
NM_001126049.2(KLLN):c.-801C>T rs1389966419
NM_001126049.2(KLLN):c.-949CAGGG[4] rs587781357
NM_001126049.2(KLLN):c.-951G>A rs1064793240
NM_001126049.2(KLLN):c.-952G>A
NM_001126049.2(KLLN):c.-971A>C
NM_001126108.2(SLC12A3):c.1045C>G (p.Pro349Ala)
NM_001126108.2(SLC12A3):c.1160T>C (p.Leu387Pro)
NM_001126108.2(SLC12A3):c.1247G>C (p.Cys416Ser) rs1429832884
NM_001126108.2(SLC12A3):c.1373C>T (p.Thr458Met)
NM_001126108.2(SLC12A3):c.1568C>T (p.Ala523Val)
NM_001126108.2(SLC12A3):c.205C>A (p.His69Asn)
NM_001126108.2(SLC12A3):c.2720+8C>T rs957373573
NM_001126108.2(SLC12A3):c.509T>A (p.Leu170Gln)
NM_001126108.2(SLC12A3):c.581C>T (p.Thr194Ile)
NM_001126108.2(SLC12A3):c.781C>T (p.Arg261Cys)
NM_001126108.2(SLC12A3):c.793G>A (p.Val265Met)
NM_001126128.2(PROK2):c.297dup (p.Gly100fs) rs768413190
NM_001127222.2(CACNA1A):c.1072G>C (p.Val358Leu)
NM_001127222.2(CACNA1A):c.2270C>G (p.Ser757Cys)
NM_001127222.2(CACNA1A):c.2536G>A (p.Asp846Asn)
NM_001127222.2(CACNA1A):c.2548G>A (p.Gly850Ser)
NM_001127222.2(CACNA1A):c.4250G>T (p.Arg1417Leu)
NM_001127222.2(CACNA1A):c.5053G>A (p.Val1685Met) rs1442400930
NM_001127222.2(CACNA1A):c.5057A>G (p.Gln1686Arg) rs2055848608
NM_001127222.2(CACNA1A):c.6056C>T (p.Ala2019Val)
NM_001127222.2(CACNA1A):c.632-8C>G rs762951690
NM_001127222.2(CACNA1A):c.6322C>T (p.Arg2108Cys)
NM_001127222.2(CACNA1A):c.6680G>T (p.Arg2227Leu) rs1064793075
NM_001127222.2(CACNA1A):c.6775C>T (p.Arg2259Trp) rs750267834
NM_001127222.2(CACNA1A):c.7206G>A (p.Pro2402=)
NM_001127392.3(MYRF):c.425C>G (p.Ser142Trp) rs2066143314
NM_001127644.2(GABRA1):c.824A>G (p.Asn275Ser) rs1755063824
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001128.6(AP1G1):c.1816G>A (p.Glu606Lys)
NM_001128159.3(VPS53):c.1A>G (p.Met1Val)
NM_001128159.3(VPS53):c.2223+5T>C
NM_001128178.3(NPHP1):c.1269+4T>C
NM_001128178.3(NPHP1):c.1586A>G (p.Tyr529Cys) rs1359420201
NM_001128178.3(NPHP1):c.2T>C (p.Met1Thr)
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del) rs777574728
NM_001128425.2(MUTYH):c.10C>T (p.Leu4Phe) rs587782404
NM_001128425.2(MUTYH):c.29G>A (p.Arg10His) rs755928199
NM_001128431.4(SLC39A14):c.21C>G (p.His7Gln)
NM_001128840.3(CACNA1D):c.1581G>A (p.Trp527Ter)
NM_001128840.3(CACNA1D):c.4464A>G (p.Ile1488Met)
NM_001128840.3(CACNA1D):c.5629G>A (p.Asp1877Asn)
NM_001128840.3(CACNA1D):c.5681A>G (p.Asp1894Gly)
NM_001128840.3(CACNA1D):c.5936G>C (p.Arg1979Pro) rs143354476
NM_001129820.2(SLFN14):c.1904+1G>T rs552439070
NM_001130004.2(ACTN1):c.2290G>A (p.Gly764Ser)
NM_001130004.2(ACTN1):c.428-4A>T
NM_001130145.3(YAP1):c.62C>T (p.Ser21Leu)
NM_001130438.3(SPTAN1):c.1085+4C>T
NM_001130438.3(SPTAN1):c.6254T>C (p.Leu2085Pro) rs1564315528
NM_001130438.3(SPTAN1):c.6841C>A (p.Leu2281Ile) rs1341044436
NM_001130698.2(TRPC3):c.158C>T (p.Pro53Leu)
NM_001130698.2(TRPC3):c.1778A>G (p.Gln593Arg)
NM_001130823.3(DNMT1):c.1492+3_1492+6del
NM_001130823.3(DNMT1):c.3524-5G>T
NM_001130987.2(DYSF):c.1033+4A>T rs1397221551
NM_001130987.2(DYSF):c.1276+5G>C rs766433603
NM_001130987.2(DYSF):c.1577-1645G>A
NM_001130987.2(DYSF):c.3325C>T (p.Arg1109Cys) rs765271624
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn) rs141704244
NM_001130987.2(DYSF):c.526T>G (p.Ser176Ala)
NM_001130987.2(DYSF):c.5406G>C (p.Glu1802Asp)
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met) rs886042880
NM_001130987.2(DYSF):c.847C>T (p.Arg283Trp) rs769180834
NM_001134363.3(RBM20):c.1338-9C>G
NM_001134363.3(RBM20):c.1961C>T (p.Ser654Phe)
NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)
NM_001134363.3(RBM20):c.2087A>G (p.Asn696Ser) rs1844782473
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) rs372370653
NM_001134363.3(RBM20):c.3242C>T (p.Pro1081Leu)
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe) rs753102653
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg) rs183130427
NM_001134407.3(GRIN2A):c.3391G>T (p.Asp1131Tyr) rs1243412120
NM_001134407.3(GRIN2A):c.3914G>C (p.Ser1305Thr)
NM_001134407.3(GRIN2A):c.4235G>C (p.Cys1412Ser) rs1900675462
NM_001134793.2(HYLS1):c.546C>G (p.Tyr182Ter) rs149584336
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3484C>T (p.His1162Tyr)
NM_001135651.3(EIF2AK2):c.1504A>G (p.Ile502Val)
NM_001136035.4(TRMT1):c.1107-13C>T
NM_001136035.4(TRMT1):c.1228C>T (p.Arg410Cys)
NM_001136157.2(OTUD5):c.377_403del (p.Ala126_Gly134del) rs1268568488
NM_001139.3(ALOX12B):c.410T>A (p.Ile137Asn) rs397514530
NM_001142800.2(EYS):c.1418G>T (p.Gly473Val) rs540611114
NM_001142800.2(EYS):c.2803G>A (p.Glu935Lys) rs1403474828
NM_001142800.2(EYS):c.3131A>G (p.Asn1044Ser)
NM_001142800.2(EYS):c.400C>T (p.His134Tyr)
NM_001142800.2(EYS):c.4606C>G (p.Gln1536Glu) rs557152369
NM_001142800.2(EYS):c.4963T>A (p.Leu1655Met)
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142800.2(EYS):c.7624G>T (p.Val2542Phe) rs2149670380
NM_001142800.2(EYS):c.7793G>A (p.Gly2598Asp) rs527236064
NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly) rs1554163993
NM_001142800.2(EYS):c.9178A>C (p.Ile3060Leu)
NM_001142800.2(EYS):c.9248G>A (p.Gly3083Asp)
NM_001142800.2(EYS):c.9428_9429dup (p.Thr3144fs) rs1270198704
NM_001142966.3(GREB1L):c.4698G>T (p.Met1566Ile)
NM_001144967.3(NEDD4L):c.968G>C (p.Gly323Ala) rs991844120
NM_001145026.2(PTPRQ):c.563T>C (p.Phe188Ser)
NM_001145073.3(USP27X):c.89C>T (p.Ser30Leu)
NM_001145358.2(SIN3A):c.2893A>G (p.Met965Val)
NM_001145358.2(SIN3A):c.2900G>A (p.Arg967Gln)
NM_001145358.2(SIN3A):c.377C>T (p.Ala126Val)
NM_001145536.2(C17orf107):c.*1010C>G rs774425374
NM_001145809.2(MYH14):c.1021G>C (p.Gly341Arg)
NM_001145809.2(MYH14):c.1343T>C (p.Leu448Pro)
NM_001145809.2(MYH14):c.140A>T (p.Gln47Leu)
NM_001145809.2(MYH14):c.2821G>A (p.Ala941Thr)
NM_001145809.2(MYH14):c.3941G>A (p.Arg1314His)
NM_001145809.2(MYH14):c.4539+14G>A rs779431768
NM_001145809.2(MYH14):c.4616G>T (p.Arg1539Leu) rs576482145
NM_001145809.2(MYH14):c.5959C>T (p.Arg1987Ter) rs727503230
NM_001148.6(ANK2):c.10054G>C (p.Val3352Leu)
NM_001148.6(ANK2):c.10310T>C (p.Ile3437Thr) rs886039169
NM_001148.6(ANK2):c.11032+17G>A rs587780853
NM_001148.6(ANK2):c.11807A>G (p.Tyr3936Cys) rs377555678
NM_001148.6(ANK2):c.2460CAC[6] (p.Thr826dup) rs770530257
NM_001148.6(ANK2):c.266C>A (p.Ser89Tyr)
NM_001148.6(ANK2):c.4055A>G (p.Asp1352Gly) rs2153979257
NM_001148.6(ANK2):c.4371+19T>C rs1057522286
NM_001148.6(ANK2):c.7420G>A (p.Val2474Ile)
NM_001148.6(ANK2):c.8133G>T (p.Gln2711His) rs771607762
NM_001148.6(ANK2):c.9751G>C (p.Ala3251Pro) rs2095950515
NM_001151.4(SLC25A4):c.-15C>A
NM_001159702.3(FHL1):c.754G>A (p.Gly252Arg)
NM_001160036.2(RHOBTB2):c.20G>A (p.Gly7Asp) rs186695833
NM_001161352.2(KCNMA1):c.2327G>T (p.Arg776Leu)
NM_001161352.2(KCNMA1):c.31_34delinsG (p.Ser11_Ser12delinsGly) rs1555528807
NM_001161352.2(KCNMA1):c.31_45del (p.Ser11_Gly15del) rs752334052
NM_001161352.2(KCNMA1):c.3443C>G (p.Pro1148Arg)
NM_001162501.2(TNRC6B):c.3936+8G>A
NM_001162501.2(TNRC6B):c.3961CAG[5] (p.Gln1326_Gln1328del)
NM_001162501.2(TNRC6B):c.3995G>T (p.Gly1332Val)
NM_001162501.2(TNRC6B):c.4577C>G (p.Thr1526Ser)
NM_001162501.2(TNRC6B):c.5191C>G (p.Gln1731Glu)
NM_001164277.2(SLC37A4):c.*66_*68del
NM_001164277.2(SLC37A4):c.343G>A (p.Gly115Arg)
NM_001164508.2(NEB):c.10175G>A (p.Arg3392Lys) rs2154058460
NM_001164508.2(NEB):c.1051G>A (p.Asp351Asn) rs2149873825
NM_001164508.2(NEB):c.10775G>A (p.Ser3592Asn) rs2154022323
NM_001164508.2(NEB):c.11326C>G (p.His3776Asp) rs770398302
NM_001164508.2(NEB):c.11601+6T>A
NM_001164508.2(NEB):c.11870A>G (p.Asp3957Gly) rs766565558
NM_001164508.2(NEB):c.16910_16911inv (p.Pro5637Leu)
NM_001164508.2(NEB):c.17827A>G (p.Asn5943Asp) rs1380251124
NM_001164508.2(NEB):c.18693+4A>C
NM_001164508.2(NEB):c.18733G>A (p.Val6245Ile)
NM_001164508.2(NEB):c.18820C>T (p.His6274Tyr) rs2153711522
NM_001164508.2(NEB):c.19428+16C>T rs1022784479
NM_001164508.2(NEB):c.20157+5C>T
NM_001164508.2(NEB):c.21419T>A (p.Ile7140Asn)
NM_001164508.2(NEB):c.21533A>G (p.Lys7178Arg) rs1279019316
NM_001164508.2(NEB):c.22479+5T>A
NM_001164508.2(NEB):c.23798T>C (p.Ile7933Thr) rs140967744
NM_001164508.2(NEB):c.24067A>G (p.Thr8023Ala) rs1323764871
NM_001164508.2(NEB):c.24114G>A (p.Ser8038=) rs781581005
NM_001164508.2(NEB):c.36+4A>G
NM_001164508.2(NEB):c.3717C>G (p.Ser1239Arg) rs765671775
NM_001164508.2(NEB):c.4396G>A (p.Ala1466Thr) rs2099279944
NM_001164508.2(NEB):c.5246A>G (p.Tyr1749Cys)
NM_001164508.2(NEB):c.5849A>C (p.Lys1950Thr) rs758655350
NM_001164508.2(NEB):c.6803G>A (p.Ser2268Asn) rs2099075647
NM_001164508.2(NEB):c.7010T>C (p.Val2337Ala) rs1558825869
NM_001164508.2(NEB):c.8994+5G>A
NM_001165963.4(SCN1A):c.1572A>T (p.Glu524Asp)
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg) rs749638533
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu) rs1057521746
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
NM_001165963.4(SCN1A):c.4916G>A (p.Arg1639His)
NM_001165963.4(SCN1A):c.5209A>G (p.Lys1737Glu) rs1553520293
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln) rs1559100385
NM_001165963.4(SCN1A):c.5798G>A (p.Arg1933Gln) rs556893466
NM_001165963.4(SCN1A):c.964+12_964+15del
NM_001167.4(XIAP):c.616_622delinsC (p.Lys206_Lys208delinsGln)
NM_001170629.2(CHD8):c.2611A>G (p.Ile871Val)
NM_001170629.2(CHD8):c.28G>A (p.Asp10Asn)
NM_001170629.2(CHD8):c.3454G>A (p.Val1152Ile) rs1888123647
NM_001170629.2(CHD8):c.416C>G (p.Ser139Cys) rs1889549675
NM_001170629.2(CHD8):c.4780G>A (p.Asp1594Asn)
NM_001170629.2(CHD8):c.5052-18G>A
NM_001170629.2(CHD8):c.7256C>A (p.Ala2419Asp)
NM_001170629.2(CHD8):c.7317del (p.Ser2440fs)
NM_001172509.2(SATB2):c.1543-8C>G
NM_001172509.2(SATB2):c.2129T>A (p.Met710Lys)
NM_001173464.2(KIF21A):c.1417GAG[1] (p.Glu474del)
NM_001173464.2(KIF21A):c.3779+16T>A
NM_001174089.2(SLC4A11):c.1147G>A (p.Glu383Lys) rs267607065
NM_001174089.2(SLC4A11):c.1168+3G>A
NM_001174089.2(SLC4A11):c.1489+6T>C
NM_001174089.2(SLC4A11):c.1772T>G (p.Ile591Ser)
NM_001174089.2(SLC4A11):c.337G>A (p.Asp113Asn)
NM_001174089.2(SLC4A11):c.728T>C (p.Met243Thr)
NM_001182.5(ALDH7A1):c.1301A>G (p.Tyr434Cys) rs747597620
NM_001182.5(ALDH7A1):c.1A>G (p.Met1Val)
NM_001182.5(ALDH7A1):c.50dup (p.Leu18fs) rs1444879414
NM_001182.5(ALDH7A1):c.826A>C (p.Thr276Pro) rs796052260
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser) rs121912711
NM_001183.6(ATP6AP1):c.1159C>T (p.Arg387Cys)
NM_001184880.2(PCDH19):c.1435G>A (p.Asp479Asn) rs1064794763
NM_001184880.2(PCDH19):c.1711G>C (p.Gly571Arg)
NM_001184880.2(PCDH19):c.1924G>A (p.Val642Met) rs1221643775
NM_001190274.2(FBXO11):c.1673G>C (p.Arg558Pro)
NM_001190274.2(FBXO11):c.2447-10T>C
NM_001190274.2(FBXO11):c.2655-14T>G
NM_001190274.2(FBXO11):c.718-7A>G
NM_001190737.2(NFIB):c.1118T>G (p.Ile373Ser)
NM_001190880.3(HYI):c.312-19C>G
NM_001193313.2(SUGCT):c.314G>A (p.Ser105Asn)
NM_001193315.2(VIPAS39):c.253C>T (p.Arg85Cys)
NM_001193315.2(VIPAS39):c.842C>G (p.Pro281Arg)
NM_001194.4(HCN2):c.371C>T (p.Ser124Leu)
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr) rs1437526128
NM_001197104.2(KMT2A):c.134C>G (p.Pro45Arg) rs2134152876
NM_001197104.2(KMT2A):c.1877G>A (p.Arg626Lys)
NM_001197104.2(KMT2A):c.209G>A (p.Ser70Asn) rs1177309170
NM_001197104.2(KMT2A):c.6446G>C (p.Arg2149Pro)
NM_001197104.2(KMT2A):c.7193A>T (p.Glu2398Val)
NM_001197104.2(KMT2A):c.7463A>G (p.Asp2488Gly)
NM_001197104.2(KMT2A):c.841C>G (p.Leu281Val)
NM_001197104.2(KMT2A):c.8766A>C (p.Glu2922Asp) rs2134400611
NM_001197104.2(KMT2A):c.9953G>C (p.Gly3318Ala) rs1950572153
NM_001198533.2(OXR1):c.2037+3G>A rs2131557742
NM_001199138.2(NLRC4):c.263-3T>C
NM_001199753.2(CPT1C):c.1160+3A>G
NM_001199753.2(CPT1C):c.1577C>G (p.Ser526Cys)
NM_001199753.2(CPT1C):c.826G>A (p.Val276Ile)
NM_001201543.2(FAM161A):c.102C>A (p.Asp34Glu) rs377215266
NM_001201543.2(FAM161A):c.2034_2037del (p.Glu680fs) rs748147923
NM_001201550.3(CFHR4):c.204G>A (p.Trp68Ter)
NM_001201550.3(CFHR4):c.800-2A>G
NM_001202.6(BMP4):c.733C>T (p.Arg245Trp)
NM_001205293.3(CACNA1E):c.1224A>G (p.Glu408=)
NM_001205293.3(CACNA1E):c.1598G>A (p.Arg533His) rs999139568
NM_001205293.3(CACNA1E):c.2143-1G>T
NM_001205293.3(CACNA1E):c.4273A>G (p.Thr1425Ala)
NM_001205293.3(CACNA1E):c.4816-19A>T
NM_001206744.2(TPO):c.1750C>T (p.Arg584Trp)
NM_001206744.2(TPO):c.1970T>C (p.Ile657Thr)
NM_001206744.2(TPO):c.2386G>A (p.Asp796Asn)
NM_001206744.2(TPO):c.2513G>A (p.Cys838Tyr)
NM_001206744.2(TPO):c.2723_2732del (p.Arg908fs)
NM_001220.5(CAMK2B):c.391G>C (p.Gly131Arg)
NM_001220.5(CAMK2B):c.414+16A>T
NM_001231.5(CASQ1):c.1168G>A (p.Asp390Asn)
NM_001231.5(CASQ1):c.985-1G>A
NM_001232.4(CASQ2):c.101T>G (p.Val34Gly) rs1280686043
NM_001232.4(CASQ2):c.1085T>C (p.Ile362Thr) rs1557783735
NM_001232.4(CASQ2):c.420+17A>T
NM_001232.4(CASQ2):c.992T>C (p.Ile331Thr) rs2101053760
NM_001235.5(SERPINH1):c.1243C>T (p.Arg415Ter)
NM_001235.5(SERPINH1):c.774G>A (p.Met258Ile)
NM_001242896.3(DEPDC5):c.1218-13G>C
NM_001242896.3(DEPDC5):c.2288G>T (p.Arg763Leu) rs542384516
NM_001242896.3(DEPDC5):c.3292C>T (p.Arg1098Cys) rs777509933
NM_001242896.3(DEPDC5):c.483+6A>G
NM_001242957.3(MAK):c.1376C>G (p.Pro459Arg) rs2127532782
NM_001242957.3(MAK):c.1802G>A (p.Trp601Ter)
NM_001242957.3(MAK):c.552G>C (p.Trp184Cys)
NM_001243279.3(ACSF3):c.1073C>A (p.Thr358Asn)
NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)
NM_001243279.3(ACSF3):c.1673G>A (p.Arg558Gln) rs140328142
NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile) rs1378197369
NM_001243279.3(ACSF3):c.395C>A (p.Ala132Asp) rs2151407600
NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del) rs1167417315
NM_001244008.2(KIF1A):c.4778C>A (p.Pro1593Gln) rs200902828
NM_001244008.2(KIF1A):c.710C>T (p.Thr237Ile)
NM_001244710.2(GFPT1):c.50G>A (p.Arg17Gln) rs775399768
NM_001250.6(CD40):c.188G>A (p.Gly63Asp) rs1261429888
NM_001250.6(CD40):c.51+7T>C
NM_001252024.2(TRPM1):c.4013T>G (p.Leu1338Arg)
NM_001253852.3(AP4B1):c.-2_4delinsGCCA (p.Met1fs) rs1558100393
NM_001253852.3(AP4B1):c.505C>A (p.Arg169Ser) rs753402898
NM_001256071.3(RNF213):c.3608C>T (p.Ser1203Leu)
NM_001256071.3(RNF213):c.8149G>A (p.Asp2717Asn)
NM_001256071.3(RNF213):c.8212C>G (p.Leu2738Val)
NM_001256071.3(RNF213):c.962_963inv (p.Met321Thr)
NM_001256071.3(RNF213):c.985G>A (p.Gly329Ser)
NM_001256317.3(TMPRSS3):c.1250C>T (p.Ala417Val)
NM_001256317.3(TMPRSS3):c.1283A>G (p.Asn428Ser)
NM_001256317.3(TMPRSS3):c.1303C>G (p.Arg435Gly) rs565348874
NM_001256545.2(MEGF10):c.542G>A (p.Arg181His) rs377547826
NM_001257180.2(SLC20A2):c.811T>C (p.Phe271Leu)
NM_001257291.2(SLC9A7):c.1750G>A (p.Asp584Asn) rs2146699107
NM_001257291.2(SLC9A7):c.706C>T (p.Leu236Phe)
NM_001267550.2(TTN):c.101347A>C (p.Lys33783Gln) rs1690916622
NM_001267550.2(TTN):c.102371G>A (p.Ser34124Asn)
NM_001267550.2(TTN):c.102670C>A (p.Leu34224Ile)
NM_001267550.2(TTN):c.103477G>A (p.Val34493Ile) rs1166346683
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del) rs759860918
NM_001267550.2(TTN):c.104040G>C (p.Arg34680Ser)
NM_001267550.2(TTN):c.105418G>A (p.Val35140Ile)
NM_001267550.2(TTN):c.105735A>T (p.Glu35245Asp) rs1444816567
NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr) rs371304729
NM_001267550.2(TTN):c.107290G>T (p.Ala35764Ser) rs879048717
NM_001267550.2(TTN):c.107377+13T>C
NM_001267550.2(TTN):c.107578_107583del (p.Gln35860_Glu35861del) rs751689670
NM_001267550.2(TTN):c.107890C>T (p.Gln35964Ter) rs281864929
NM_001267550.2(TTN):c.10794dup (p.Lys3599Ter)
NM_001267550.2(TTN):c.11000A>T (p.Gln3667Leu)
NM_001267550.2(TTN):c.11008A>C (p.Thr3670Pro) rs794729589
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs) rs778172350
NM_001267550.2(TTN):c.1364C>T (p.Thr455Met) rs368121196
NM_001267550.2(TTN):c.13792G>C (p.Gly4598Arg)
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.14314T>G (p.Cys4772Gly)
NM_001267550.2(TTN):c.14704A>C (p.Asn4902His)
NM_001267550.2(TTN):c.14878T>C (p.Cys4960Arg) rs879004875
NM_001267550.2(TTN):c.1517T>G (p.Met506Arg) rs1210731040
NM_001267550.2(TTN):c.15494A>G (p.Lys5165Arg)
NM_001267550.2(TTN):c.15679A>T (p.Ile5227Phe)
NM_001267550.2(TTN):c.15775+1G>A rs1353528319
NM_001267550.2(TTN):c.16591G>A (p.Val5531Met) rs1301488285
NM_001267550.2(TTN):c.1681A>G (p.Ile561Val)
NM_001267550.2(TTN):c.16924G>A (p.Glu5642Lys) rs1448901680
NM_001267550.2(TTN):c.1726A>G (p.Lys576Glu)
NM_001267550.2(TTN):c.17303del (p.Asp5768fs)
NM_001267550.2(TTN):c.17558C>T (p.Thr5853Ile) rs2154308873
NM_001267550.2(TTN):c.17584G>A (p.Glu5862Lys)
NM_001267550.2(TTN):c.17950A>G (p.Thr5984Ala)
NM_001267550.2(TTN):c.18029-20_18029-19delinsCC rs2080233713
NM_001267550.2(TTN):c.18208G>T (p.Glu6070Ter)
NM_001267550.2(TTN):c.18442G>A (p.Ala6148Thr)
NM_001267550.2(TTN):c.18868+6T>C rs2154307118
NM_001267550.2(TTN):c.18869-3C>T
NM_001267550.2(TTN):c.19276G>T (p.Val6426Phe) rs778339438
NM_001267550.2(TTN):c.19357G>C (p.Gly6453Arg)
NM_001267550.2(TTN):c.19801C>T (p.Pro6601Ser)
NM_001267550.2(TTN):c.20183A>G (p.Asn6728Ser)
NM_001267550.2(TTN):c.2018T>G (p.Leu673Arg)
NM_001267550.2(TTN):c.20837-2A>G
NM_001267550.2(TTN):c.20905T>A (p.Cys6969Ser) rs368762020
NM_001267550.2(TTN):c.21020T>C (p.Ile7007Thr)
NM_001267550.2(TTN):c.21134C>T (p.Ser7045Phe)
NM_001267550.2(TTN):c.21995T>A (p.Leu7332Gln)
NM_001267550.2(TTN):c.22016C>T (p.Ser7339Leu)
NM_001267550.2(TTN):c.22355G>T (p.Trp7452Leu)
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.23269A>T (p.Thr7757Ser)
NM_001267550.2(TTN):c.23660-14A>G rs2078064430
NM_001267550.2(TTN):c.23931T>A (p.His7977Gln)
NM_001267550.2(TTN):c.24227-10C>A
NM_001267550.2(TTN):c.24365A>T (p.Glu8122Val)
NM_001267550.2(TTN):c.24515C>T (p.Thr8172Ile) rs2077852623
NM_001267550.2(TTN):c.24898G>C (p.Glu8300Gln) rs1300968279
NM_001267550.2(TTN):c.24950A>T (p.Asn8317Ile) rs1278554973
NM_001267550.2(TTN):c.25037C>T (p.Ala8346Val) rs747055472
NM_001267550.2(TTN):c.25310C>T (p.Pro8437Leu) rs1560631696
NM_001267550.2(TTN):c.25409G>A (p.Gly8470Glu)
NM_001267550.2(TTN):c.25583G>T (p.Cys8528Phe) rs1364963458
NM_001267550.2(TTN):c.25609G>A (p.Asp8537Asn)
NM_001267550.2(TTN):c.25700C>T (p.Thr8567Ile) rs867794054
NM_001267550.2(TTN):c.26248G>A (p.Gly8750Ser)
NM_001267550.2(TTN):c.26318A>C (p.Lys8773Thr) rs2154297202
NM_001267550.2(TTN):c.27169A>G (p.Ser9057Gly) rs1472858886
NM_001267550.2(TTN):c.2735G>T (p.Arg912Leu)
NM_001267550.2(TTN):c.2744G>A (p.Arg915His) rs376922544
NM_001267550.2(TTN):c.2788G>T (p.Ala930Ser) rs758604858
NM_001267550.2(TTN):c.27977G>T (p.Gly9326Val)
NM_001267550.2(TTN):c.28012G>A (p.Gly9338Ser)
NM_001267550.2(TTN):c.29583AGA[2] (p.Glu9864del) rs1366904544
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.30436G>A (p.Val10146Ile) rs1553875094
NM_001267550.2(TTN):c.30562A>G (p.Ile10188Val)
NM_001267550.2(TTN):c.30929A>T (p.Lys10310Met)
NM_001267550.2(TTN):c.31033T>C (p.Tyr10345His)
NM_001267550.2(TTN):c.31348+1G>A
NM_001267550.2(TTN):c.31429_31430insTTA (p.Pro10477delinsLeuThr)
NM_001267550.2(TTN):c.32087C>T (p.Pro10696Leu)
NM_001267550.2(TTN):c.32219G>A (p.Ser10740Asn) rs2071387213
NM_001267550.2(TTN):c.3241G>T (p.Ala1081Ser) rs55914517
NM_001267550.2(TTN):c.32515G>T (p.Ala10839Ser) rs727503635
NM_001267550.2(TTN):c.33055G>T (p.Glu11019Ter) rs1372770028
NM_001267550.2(TTN):c.33340G>T (p.Val11114Leu) rs1328375389
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del) rs368327166
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu) rs757268986
NM_001267550.2(TTN):c.33806T>G (p.Val11269Gly)
NM_001267550.2(TTN):c.34007G>A (p.Arg11336His)
NM_001267550.2(TTN):c.34291+8A>G
NM_001267550.2(TTN):c.34411_34414del (p.Lys11471fs)
NM_001267550.2(TTN):c.34613-10C>A rs536191523
NM_001267550.2(TTN):c.34709-1G>A rs727503634
NM_001267550.2(TTN):c.35029G>T (p.Glu11677Ter)
NM_001267550.2(TTN):c.35228-6T>C rs1399428209
NM_001267550.2(TTN):c.35309-10A>G rs2066755161
NM_001267550.2(TTN):c.35365C>A (p.Pro11789Thr)
NM_001267550.2(TTN):c.36119-1G>C rs1239720687
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp) rs796478043
NM_001267550.2(TTN):c.38207-10_38381-10del
NM_001267550.2(TTN):c.39282_39284delinsCCA (p.Pro13095His)
NM_001267550.2(TTN):c.39295+1G>C
NM_001267550.2(TTN):c.39314A>C (p.Glu13105Ala)
NM_001267550.2(TTN):c.39374_39376del (p.Pro13125del) rs1292233616
NM_001267550.2(TTN):c.39709+14C>A rs760314415
NM_001267550.2(TTN):c.39709+1G>A
NM_001267550.2(TTN):c.39895+7A>G rs1299824475
NM_001267550.2(TTN):c.41213G>A (p.Gly13738Asp)
NM_001267550.2(TTN):c.4153G>C (p.Ala1385Pro) rs140760859
NM_001267550.2(TTN):c.41793C>A (p.Tyr13931Ter) rs794729380
NM_001267550.2(TTN):c.42121G>A (p.Ala14041Thr) rs2060215943
NM_001267550.2(TTN):c.4222C>T (p.Arg1408Cys)
NM_001267550.2(TTN):c.42488G>T (p.Cys14163Phe)
NM_001267550.2(TTN):c.42524T>C (p.Phe14175Ser) rs575813993
NM_001267550.2(TTN):c.42908G>A (p.Cys14303Tyr)
NM_001267550.2(TTN):c.42947-12_42947-11del rs1352151183
NM_001267550.2(TTN):c.43174G>C (p.Ala14392Pro)
NM_001267550.2(TTN):c.4322G>A (p.Arg1441His) rs72647876
NM_001267550.2(TTN):c.43439A>G (p.Glu14480Gly) rs1449008181
NM_001267550.2(TTN):c.43693C>T (p.Gln14565Ter)
NM_001267550.2(TTN):c.43924C>A (p.Leu14642Ile) rs2154220229
NM_001267550.2(TTN):c.44107A>G (p.Ile14703Val)
NM_001267550.2(TTN):c.44155-10G>A rs1044877599
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.44314G>T (p.Asp14772Tyr) rs1426162588
NM_001267550.2(TTN):c.44338del (p.Thr14780fs)
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.44548+13C>T
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln) rs762830792
NM_001267550.2(TTN):c.44812G>A (p.Val14938Met)
NM_001267550.2(TTN):c.44837_44845del (p.Arg14946_Leu14948del) rs1436256356
NM_001267550.2(TTN):c.45082+8T>C
NM_001267550.2(TTN):c.45461G>A (p.Arg15154Lys)
NM_001267550.2(TTN):c.45489T>G (p.Asp15163Glu)
NM_001267550.2(TTN):c.45741A>G (p.Ile15247Met)
NM_001267550.2(TTN):c.45895+17C>T rs1559872244
NM_001267550.2(TTN):c.47233G>A (p.Glu15745Lys)
NM_001267550.2(TTN):c.48361C>G (p.Gln16121Glu)
NM_001267550.2(TTN):c.48378_48380del (p.Leu16126del) rs561618839
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) rs368527534
NM_001267550.2(TTN):c.49388C>A (p.Thr16463Asn) rs541307234
NM_001267550.2(TTN):c.49627A>G (p.Ile16543Val)
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val) rs763483590
NM_001267550.2(TTN):c.50249-7T>A
NM_001267550.2(TTN):c.50344C>G (p.Pro16782Ala)
NM_001267550.2(TTN):c.51281A>G (p.Tyr17094Cys)
NM_001267550.2(TTN):c.51589T>C (p.Cys17197Arg)
NM_001267550.2(TTN):c.52349G>A (p.Arg17450Lys)
NM_001267550.2(TTN):c.52406-12dup rs1553688916
NM_001267550.2(TTN):c.54533G>T (p.Arg18178Leu) rs879023208
NM_001267550.2(TTN):c.54644G>A (p.Arg18215His)
NM_001267550.2(TTN):c.55339C>G (p.Pro18447Ala)
NM_001267550.2(TTN):c.55361C>T (p.Thr18454Ile)
NM_001267550.2(TTN):c.55517_55519del (p.Asp18506del) rs2053439318
NM_001267550.2(TTN):c.56051-7_56051-5del rs774966673
NM_001267550.2(TTN):c.56270G>A (p.Ser18757Asn)
NM_001267550.2(TTN):c.56474G>C (p.Arg18825Thr)
NM_001267550.2(TTN):c.56594A>G (p.Tyr18865Cys)
NM_001267550.2(TTN):c.57664G>A (p.Glu19222Lys) rs2051376296
NM_001267550.2(TTN):c.57749A>G (p.Gln19250Arg)
NM_001267550.2(TTN):c.57919CCT[1] (p.Pro19308del) rs2050997801
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala) rs754793079
NM_001267550.2(TTN):c.58160C>T (p.Thr19387Met)
NM_001267550.2(TTN):c.58459G>C (p.Val19487Leu) rs2154186728
NM_001267550.2(TTN):c.58726C>T (p.Arg19576Cys) rs779755661
NM_001267550.2(TTN):c.58742A>C (p.Asp19581Ala)
NM_001267550.2(TTN):c.59206T>G (p.Ser19736Ala) rs2050540072
NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly) rs1039014549
NM_001267550.2(TTN):c.60121CAA[1] (p.Gln20042del) rs761360903
NM_001267550.2(TTN):c.60839T>C (p.Val20280Ala)
NM_001267550.2(TTN):c.60896G>A (p.Gly20299Asp)
NM_001267550.2(TTN):c.61234A>C (p.Lys20412Gln)
NM_001267550.2(TTN):c.6172A>G (p.Lys2058Glu) rs786205405
NM_001267550.2(TTN):c.62272G>A (p.Glu20758Lys) rs794729470
NM_001267550.2(TTN):c.63009G>C (p.Lys21003Asn) rs794729472
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup) rs750904641
NM_001267550.2(TTN):c.63686C>T (p.Ala21229Val)
NM_001267550.2(TTN):c.63946G>A (p.Val21316Ile)
NM_001267550.2(TTN):c.64619C>T (p.Thr21540Ile) rs1284135964
NM_001267550.2(TTN):c.64733C>G (p.Ser21578Cys)
NM_001267550.2(TTN):c.64774A>G (p.Ile21592Val) rs727503581
NM_001267550.2(TTN):c.64889A>T (p.Tyr21630Phe)
NM_001267550.2(TTN):c.65336C>T (p.Ala21779Val)
NM_001267550.2(TTN):c.65528G>A (p.Ser21843Asn) rs2154179160
NM_001267550.2(TTN):c.66161-12_66161-9del rs758125069
NM_001267550.2(TTN):c.67057+6T>C
NM_001267550.2(TTN):c.67189G>A (p.Glu22397Lys)
NM_001267550.2(TTN):c.67228A>C (p.Lys22410Gln)
NM_001267550.2(TTN):c.67781A>T (p.Asp22594Val)
NM_001267550.2(TTN):c.68314G>C (p.Gly22772Arg) rs1559480997
NM_001267550.2(TTN):c.68336A>G (p.His22779Arg)
NM_001267550.2(TTN):c.69716-15T>C
NM_001267550.2(TTN):c.70082G>T (p.Ser23361Ile) rs1433418101
NM_001267550.2(TTN):c.70343C>A (p.Thr23448Lys)
NM_001267550.2(TTN):c.70700A>C (p.Tyr23567Ser) rs1004548694
NM_001267550.2(TTN):c.70748C>T (p.Thr23583Ile) rs397517687
NM_001267550.2(TTN):c.70852G>A (p.Glu23618Lys)
NM_001267550.2(TTN):c.7099G>A (p.Val2367Ile)
NM_001267550.2(TTN):c.71168T>A (p.Val23723Asp)
NM_001267550.2(TTN):c.7166T>A (p.Met2389Lys)
NM_001267550.2(TTN):c.71798C>T (p.Pro23933Leu)
NM_001267550.2(TTN):c.72119T>C (p.Ile24040Thr)
NM_001267550.2(TTN):c.72614T>C (p.Val24205Ala) rs1206638090
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys) rs750298083
NM_001267550.2(TTN):c.73035T>G (p.Asn24345Lys)
NM_001267550.2(TTN):c.73073A>T (p.Tyr24358Phe)
NM_001267550.2(TTN):c.7330+12T>C rs2154344841
NM_001267550.2(TTN):c.74038A>T (p.Ile24680Phe)
NM_001267550.2(TTN):c.75239G>A (p.Arg25080Gln)
NM_001267550.2(TTN):c.75322C>A (p.Pro25108Thr) rs1445994251
NM_001267550.2(TTN):c.76024G>C (p.Glu25342Gln)
NM_001267550.2(TTN):c.76289T>C (p.Ile25430Thr) rs2154168088
NM_001267550.2(TTN):c.76739C>A (p.Thr25580Lys) rs56372592
NM_001267550.2(TTN):c.77411T>G (p.Phe25804Cys)
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del) rs754571796
NM_001267550.2(TTN):c.78460A>G (p.Thr26154Ala) rs1286984854
NM_001267550.2(TTN):c.78742A>C (p.Lys26248Gln) rs1281337813
NM_001267550.2(TTN):c.79028C>T (p.Thr26343Ile)
NM_001267550.2(TTN):c.7946A>G (p.Lys2649Arg) rs745433704
NM_001267550.2(TTN):c.8108A>C (p.Lys2703Thr) rs2091436696
NM_001267550.2(TTN):c.81526C>T (p.Arg27176Cys) rs778385749
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu) rs199726308
NM_001267550.2(TTN):c.83025A>G (p.Ile27675Met)
NM_001267550.2(TTN):c.83158G>T (p.Ala27720Ser)
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.83767A>C (p.Ile27923Leu)
NM_001267550.2(TTN):c.85907C>G (p.Pro28636Arg)
NM_001267550.2(TTN):c.86264A>C (p.Asp28755Ala) rs1702996133
NM_001267550.2(TTN):c.8660C>A (p.Thr2887Asn) rs752697997
NM_001267550.2(TTN):c.87997A>G (p.Ile29333Val)
NM_001267550.2(TTN):c.88028G>C (p.Arg29343Pro)
NM_001267550.2(TTN):c.88661T>C (p.Leu29554Pro)
NM_001267550.2(TTN):c.88736T>C (p.Val29579Ala)
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys) rs879222602
NM_001267550.2(TTN):c.89567A>G (p.Asp29856Gly) rs1700105269
NM_001267550.2(TTN):c.90079G>T (p.Ala30027Ser)
NM_001267550.2(TTN):c.90203A>G (p.Glu30068Gly)
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe) rs750520740
NM_001267550.2(TTN):c.90676_90678del (p.Ser30226del)
NM_001267550.2(TTN):c.91270+5G>A rs2154150668
NM_001267550.2(TTN):c.91585G>A (p.Gly30529Ser)
NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del) rs754953607
NM_001267550.2(TTN):c.92427C>G (p.Ile30809Met)
NM_001267550.2(TTN):c.9290T>C (p.Leu3097Pro) rs373366126
NM_001267550.2(TTN):c.92966A>T (p.Asn30989Ile)
NM_001267550.2(TTN):c.93182G>C (p.Arg31061Pro) rs727504923
NM_001267550.2(TTN):c.93431G>A (p.Arg31144Gln)
NM_001267550.2(TTN):c.94499C>G (p.Pro31500Arg)
NM_001267550.2(TTN):c.94524T>C (p.Asp31508=) rs727505200
NM_001267550.2(TTN):c.94633C>A (p.Arg31545Ser) rs202187398
NM_001267550.2(TTN):c.95108T>A (p.Val31703Asp)
NM_001267550.2(TTN):c.95147C>T (p.Thr31716Ile)
NM_001267550.2(TTN):c.95644C>T (p.Arg31882Trp)
NM_001267550.2(TTN):c.95654C>T (p.Ala31885Val)
NM_001267550.2(TTN):c.9670A>G (p.Arg3224Gly)
NM_001267550.2(TTN):c.96979G>A (p.Val32327Met) rs956461857
NM_001267550.2(TTN):c.97794T>G (p.Ile32598Met)
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.98959_98960delinsCT (p.Ser32987Leu) rs727504588
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001270.4(CHD1):c.1733A>C (p.His578Pro)
NM_001270.4(CHD1):c.179G>A (p.Ser60Asn)
NM_001270.4(CHD1):c.3575G>A (p.Gly1192Asp)
NM_001270.4(CHD1):c.4574C>T (p.Pro1525Leu)
NM_001270.4(CHD1):c.662A>T (p.Asp221Val) rs1751666878
NM_001271.4(CHD2):c.2506-17G>A rs2141839109
NM_001271.4(CHD2):c.856A>G (p.Ile286Val) rs1457822140
NM_001271696.3(ABCB7):c.1771A>G (p.Ile591Val)
NM_001271803.2(REEP2):c.752G>C (p.Gly251Ala)
NM_001271938.2(MEGF8):c.1688C>T (p.Ser563Phe) rs2147463786
NM_001271938.2(MEGF8):c.2451C>G (p.His817Gln) rs1956275631
NM_001271938.2(MEGF8):c.5870G>T (p.Cys1957Phe) rs772158196
NM_001271938.2(MEGF8):c.599G>A (p.Arg200His) rs201881006
NM_001271938.2(MEGF8):c.7014C>G (p.Asn2338Lys)
NM_001271938.2(MEGF8):c.755A>G (p.Asn252Ser) rs2039111303
NM_001273.5(CHD4):c.2121T>C (p.Asp707=)
NM_001273.5(CHD4):c.3283C>T (p.Arg1095Cys) rs1948400672
NM_001273.5(CHD4):c.3466-12G>A
NM_001273.5(CHD4):c.4625C>T (p.Thr1542Ile)
NM_001276309.3(NOL3):c.-8-158C>T
NM_001276309.3(NOL3):c.199G>A (p.Gly67Ser)
NM_001276309.3(NOL3):c.475_528del (p.Ala159_Glu176del)
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys) rs45608937
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001276345.2(TNNT2):c.851+5G>A rs193922620
NM_001277058.2(ERCC6):c.2881delinsAT (p.Leu961fs)
NM_001277058.2(ERCC6):c.3166G>A (p.Val1056Ile)
NM_001278064.2(GRM1):c.26T>C (p.Phe9Ser)
NM_001278064.2(GRM1):c.3373G>T (p.Glu1125Ter) rs149403267
NM_001278064.2(GRM1):c.445C>A (p.Pro149Thr)
NM_001278116.2(L1CAM):c.1533C>A (p.Asn511Lys)
NM_001278116.2(L1CAM):c.1613C>T (p.Thr538Met)
NM_001278116.2(L1CAM):c.1811_1816dup (p.Gln605_Leu606insProGln)
NM_001278116.2(L1CAM):c.1864G>A (p.Asp622Asn)
NM_001278116.2(L1CAM):c.198-9C>A rs782753470
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile)
NM_001278116.2(L1CAM):c.2138C>G (p.Ala713Gly)
NM_001278116.2(L1CAM):c.2750-6C>T
NM_001278116.2(L1CAM):c.292A>G (p.Thr98Ala) rs2148500068
NM_001278116.2(L1CAM):c.3019C>G (p.Arg1007Gly) rs1557090232
NM_001278116.2(L1CAM):c.3043T>C (p.Ser1015Pro)
NM_001278116.2(L1CAM):c.718_775delinsACATTGACAG (p.Pro240_Pro259delinsThrLeuThrAla) rs2148498265
NM_001278116.2(L1CAM):c.991+6G>A
NM_001278512.2(AP3B2):c.3235_3238del (p.Thr1079fs) rs756807665
NM_001278716.2(FBXL4):c.1252G>C (p.Ala418Pro) rs542852839
NM_001281503.2(SLITRK1):c.1381C>T (p.Leu461Phe) rs1884779401
NM_001281503.2(SLITRK1):c.446C>T (p.Ala149Val)
NM_001282531.3(ADNP):c.1248G>C (p.Gln416His)
NM_001282531.3(ADNP):c.3280G>A (p.Gly1094Arg)
NM_001282534.2(KCNK9):c.509C>T (p.Thr170Met) rs1814685669
NM_001282684.2(KCTD17):c.794C>T (p.Pro265Leu)
NM_001282874.2(SMARCA1):c.2038A>G (p.Lys680Glu) rs1303741633
NM_001283009.2(RTEL1):c.2652+5G>A rs1555812507
NM_001283009.2(RTEL1):c.2875C>T (p.His959Tyr) rs1334634497
NM_001283009.2(RTEL1):c.396-78A>G
NM_001287.6(CLCN7):c.2215G>A (p.Glu739Lys)
NM_001287.6(CLCN7):c.971C>T (p.Thr324Ile) rs2038825233
NM_001287491.2(TET3):c.4874A>C (p.Glu1625Ala)
NM_001287491.2(TET3):c.5335G>C (p.Val1779Leu)
NM_001288705.3(CSF1R):c.1859-119G>A rs1561912628
NM_001288705.3(CSF1R):c.2759A>C (p.Glu920Ala)
NM_001291303.3(FAT4):c.12017C>T (p.Thr4006Met)
NM_001291303.3(FAT4):c.4726A>C (p.Ile1576Leu)
NM_001291303.3(FAT4):c.5420G>A (p.Arg1807His)
NM_001291415.2(KDM6A):c.-10C>G
NM_001291415.2(KDM6A):c.2474T>C (p.Leu825Pro)
NM_001291415.2(KDM6A):c.343G>A (p.Ala115Thr) rs2039532932
NM_001291415.2(KDM6A):c.3518A>G (p.His1173Arg)
NM_001291415.2(KDM6A):c.384+13T>A
NM_001292034.3(TAB2):c.1174A>G (p.Asn392Asp)
NM_001297.5(CNGB1):c.1187G>A (p.Arg396Gln)
NM_001297.5(CNGB1):c.1801+5G>A
NM_001297.5(CNGB1):c.2320G>A (p.Glu774Lys) rs1286857064
NM_001298.3(CNGA3):c.1307G>A (p.Arg436Gln)
NM_001303052.2(MYT1L):c.1121G>A (p.Arg374Lys)
NM_001303052.2(MYT1L):c.2944G>T (p.Ala982Ser)
NM_001303052.2(MYT1L):c.713A>G (p.Asp238Gly)
NM_001303256.3(MORC2):c.1078C>G (p.Leu360Val)
NM_001303256.3(MORC2):c.1934C>T (p.Pro645Leu)
NM_001303256.3(MORC2):c.19A>G (p.Ser7Gly)
NM_001303256.3(MORC2):c.2023C>T (p.Arg675Ter)
NM_001303256.3(MORC2):c.2381-5G>A
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys) rs1064795559
NM_001308093.3(GATA4):c.1318A>T (p.Ile440Leu) rs772619099
NM_001312909.2(FAM111A):c.1019dup (p.Asn340fs) rs1861846592
NM_001312909.2(FAM111A):c.1477C>T (p.Arg493Ter) rs761191576
NM_001318510.2(ACSL4):c.-12-53C>G
NM_001318510.2(ACSL4):c.1070C>A (p.Thr357Asn)
NM_001318510.2(ACSL4):c.1586G>A (p.Arg529His) rs1569420470
NM_001318510.2(ACSL4):c.73G>A (p.Asp25Asn)
NM_001318852.2(MAPK8IP3):c.1816A>G (p.Thr606Ala) rs1235244843
NM_001318852.2(MAPK8IP3):c.2261C>T (p.Thr754Met)
NM_001318852.2(MAPK8IP3):c.2820-7C>T
NM_001318852.2(MAPK8IP3):c.3077A>T (p.His1026Leu)
NM_001318852.2(MAPK8IP3):c.3623A>G (p.Tyr1208Cys) rs2042395600
NM_001318852.2(MAPK8IP3):c.482A>T (p.Tyr161Phe) rs2141731604
NM_001320.7(CSNK2B):c.558-11C>T
NM_001321075.3(DLG4):c.480G>T (p.Glu160Asp)
NM_001321075.3(DLG4):c.719A>G (p.Tyr240Cys)
NM_001321075.3(DLG4):c.851C>T (p.Thr284Ile)
NM_001323289.2(CDKL5):c.2153-3C>T
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp) rs2147144038
NM_001330.5(CTF1):c.*14G>A rs370908045
NM_001330078.2(NRXN1):c.*18G>A
NM_001330078.2(NRXN1):c.2044A>G (p.Ser682Gly) rs2105259007
NM_001330078.2(NRXN1):c.4173_4188delinsGTGTCCCTAA (p.Asp1391_Asp1396delinsGluCysProTer) rs1553400438
NM_001330111.2(NAA38):c.-167+106_-167+107insT rs2151405562
NM_001330260.2(SCN8A):c.1850A>G (p.Tyr617Cys) rs1308021407
NM_001330260.2(SCN8A):c.1883G>A (p.Arg628His)
NM_001330260.2(SCN8A):c.4524+20T>G
NM_001330260.2(SCN8A):c.5306T>G (p.Phe1769Cys)
NM_001330288.2(SMARCC2):c.3129G>C (p.Gln1043His)
NM_001330288.2(SMARCC2):c.803G>A (p.Arg268His)
NM_001330311.2(DVL1):c.1112C>G (p.Thr371Arg)
NM_001330311.2(DVL1):c.227G>A (p.Arg76His)
NM_001330360.2(POLA1):c.1054T>G (p.Leu352Val)
NM_001330360.2(POLA1):c.2242T>G (p.Leu748Val)
NM_001330360.2(POLA1):c.3289A>G (p.Thr1097Ala) rs2148498834
NM_001330360.2(POLA1):c.383A>G (p.Asn128Ser)
NM_001330360.2(POLA1):c.410C>T (p.Pro137Leu)
NM_001330574.2(ZNF711):c.119A>G (p.His40Arg)
NM_001330574.2(ZNF711):c.1465G>A (p.Asp489Asn) rs1462160566
NM_001330574.2(ZNF711):c.1882G>A (p.Asp628Asn) rs1426575922
NM_001330700.2(TOP2B):c.1543C>T (p.Arg515Trp) rs2125377756
NM_001330700.2(TOP2B):c.1895dup (p.Tyr633fs)
NM_001330700.2(TOP2B):c.3308A>G (p.Tyr1103Cys) rs1702570767
NM_001330700.2(TOP2B):c.3907C>G (p.Pro1303Ala)
NM_001346754.2(PIGW):c.1050_1061del (p.Phe351_Leu354del) rs2074169001
NM_001346754.2(PIGW):c.499A>G (p.Met167Val) rs200024253
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001347721.2(DYRK1A):c.10+3G>C rs2050442348
NM_001347721.2(DYRK1A):c.1001A>G (p.Asp334Gly) rs1601280230
NM_001347721.2(DYRK1A):c.1714A>C (p.Thr572Pro) rs2053762752
NM_001347721.2(DYRK1A):c.2220dup (p.Met741fs) rs2053783768
NM_001347721.2(DYRK1A):c.638-8_638-3del rs2053033529
NM_001348323.3(TRIP12):c.1019A>G (p.Lys340Arg)
NM_001348323.3(TRIP12):c.1958C>A (p.Pro653Gln)
NM_001348323.3(TRIP12):c.1986+7T>C
NM_001348323.3(TRIP12):c.2486G>A (p.Arg829Gln)
NM_001348323.3(TRIP12):c.4215+4A>G
NM_001348323.3(TRIP12):c.449A>G (p.His150Arg)
NM_001348323.3(TRIP12):c.5365-14A>C
NM_001348323.3(TRIP12):c.6008-6A>G
NM_001348323.3(TRIP12):c.6134G>C (p.Ser2045Thr)
NM_001348716.2(KDM6B):c.1820C>T (p.Pro607Leu)
NM_001348716.2(KDM6B):c.2516C>T (p.Pro839Leu)
NM_001348716.2(KDM6B):c.3441-9del
NM_001348768.2(HECW2):c.1097T>A (p.Val366Glu)
NM_001348768.2(HECW2):c.1568C>T (p.Ala523Val)
NM_001348768.2(HECW2):c.1618T>C (p.Ser540Pro)
NM_001348768.2(HECW2):c.2009A>C (p.Glu670Ala)
NM_001348768.2(HECW2):c.244A>G (p.Ile82Val)
NM_001348768.2(HECW2):c.3152G>A (p.Arg1051Gln)
NM_001348768.2(HECW2):c.3752T>C (p.Val1251Ala)
NM_001348800.3(ZBTB20):c.616G>A (p.Asp206Asn) rs779190582
NM_001349253.2(SCN11A):c.1442G>C (p.Gly481Ala)
NM_001349253.2(SCN11A):c.2203C>T (p.Leu735Phe)
NM_001349253.2(SCN11A):c.5201A>G (p.Glu1734Gly)
NM_001349338.3(FOXP1):c.1277C>T (p.Thr426Ile)
NM_001349338.3(FOXP1):c.527C>A (p.Thr176Asn)
NM_001349798.2(FBXW7):c.1002G>T (p.Leu334Phe)
NM_001349798.2(FBXW7):c.31A>G (p.Lys11Glu)
NM_001351132.2(PEX5):c.127_128delinsTT (p.Gly43Leu)
NM_001351132.2(PEX5):c.1645C>T (p.Leu549Phe)
NM_001351132.2(PEX5):c.64G>A (p.Gly22Arg) rs2135877599
NM_001351169.2(NT5C2):c.389+349G>A
NM_001352027.3(PHF21A):c.205C>T (p.Pro69Ser) rs2136287756
NM_001352027.3(PHF21A):c.643A>G (p.Lys215Glu) rs2136046833
NM_001352514.2(HLCS):c.2151C>G (p.Asn717Lys)
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del) rs1555882090
NM_001352514.2(HLCS):c.2450+4A>G
NM_001352514.2(HLCS):c.2600del (p.Leu867fs) rs761447836
NM_001353108.3(CEP63):c.530T>C (p.Leu177Pro)
NM_001353214.3(DYM):c.1694C>T (p.Ser565Leu)
NM_001353345.2(SETD1B):c.1460C>T (p.Ser487Leu)
NM_001353345.2(SETD1B):c.1981_1986del (p.Val661_Val662del) rs2137560114
NM_001353345.2(SETD1B):c.2755_2772dup (p.Pro924_Lys925insGluAspArgProLysPro)
NM_001353345.2(SETD1B):c.5392C>T (p.Arg1798Cys) rs2137589027
NM_001354712.2(THRB):c.1013G>A (p.Arg338Gln)
NM_001354712.2(THRB):c.1354C>T (p.Pro452Ser)
NM_001354712.2(THRB):c.1357_1358delinsGA (p.Pro453Asp) rs2148780504
NM_001354712.2(THRB):c.23-19G>A
NM_001354712.2(THRB):c.625G>C (p.Gly209Arg)
NM_001354712.2(THRB):c.929T>C (p.Met310Thr) rs121918699
NM_001354712.2(THRB):c.958C>A (p.Arg320Ser) rs121918696
NM_001354712.2(THRB):c.980C>T (p.Thr327Ile)
NM_001354712.2(THRB):c.994G>A (p.Gly332Arg) rs28999969
NM_001358530.2(MOCS1):c.1102+6T>C
NM_001358530.2(MOCS1):c.124-118G>T
NM_001358530.2(MOCS1):c.124-123A>G
NM_001358530.2(MOCS1):c.1858_1859dup (p.Lys621fs)
NM_001360.3(DHCR7):c.1003C>T (p.Pro335Ser) rs1949273213
NM_001360.3(DHCR7):c.1088G>T (p.Arg363Leu) rs200539324
NM_001360.3(DHCR7):c.1168C>T (p.His390Tyr) rs544442568
NM_001360.3(DHCR7):c.1193del (p.Gly398fs) rs1949268628
NM_001360.3(DHCR7):c.1342G>C (p.Glu448Gln) rs80338864
NM_001360.3(DHCR7):c.464A>G (p.His155Arg)
NM_001360.3(DHCR7):c.532A>T (p.Ile178Phe) rs1223603615
NM_001360.3(DHCR7):c.739G>A (p.Ala247Thr) rs767031102
NM_001360.3(DHCR7):c.742T>C (p.Trp248Arg) rs886044494
NM_001360.3(DHCR7):c.818T>G (p.Val273Gly)
NM_001360.3(DHCR7):c.842T>C (p.Val281Ala)
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys) rs367585401
NM_001360.3(DHCR7):c.962A>T (p.Gln321Leu)
NM_001360016.2(G6PD):c.112G>A (p.Gly38Ser)
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
NM_001363.5(DKC1):c.264-9C>T rs1300109572
NM_001363711.2(DUOX2):c.1587G>T (p.Lys529Asn)
NM_001363711.2(DUOX2):c.1718A>G (p.Gln573Arg)
NM_001363711.2(DUOX2):c.199G>A (p.Asp67Asn) rs1255757517
NM_001363711.2(DUOX2):c.214G>T (p.Ala72Ser)
NM_001363711.2(DUOX2):c.2803C>T (p.Leu935Phe)
NM_001363711.2(DUOX2):c.3395T>A (p.Met1132Lys)
NM_001363711.2(DUOX2):c.355G>C (p.Val119Leu) rs138970496
NM_001363711.2(DUOX2):c.3721A>T (p.Ile1241Phe)
NM_001363711.2(DUOX2):c.3830C>G (p.Ala1277Gly) rs143471358
NM_001363711.2(DUOX2):c.3940G>A (p.Glu1314Lys)
NM_001363711.2(DUOX2):c.838G>A (p.Glu280Lys)
NM_001365088.1(SLC12A6):c.1118+5G>A
NM_001365088.1(SLC12A6):c.1A>G (p.Met1Val) rs1295560007
NM_001365088.1(SLC12A6):c.2110A>G (p.Ile704Val) rs748542923
NM_001365088.1(SLC12A6):c.2T>C (p.Met1Thr)
NM_001365276.2(TNXB):c.12155G>A (p.Arg4052His)
NM_001365276.2(TNXB):c.7783G>C (p.Glu2595Gln) rs374803743
NM_001365276.2(TNXB):c.9473_9474delinsTG (p.Thr3158Met)
NM_001365308.1(BMPER):c.322T>C (p.Cys108Arg)
NM_001365536.1(SCN9A):c.1415G>T (p.Ser472Ile)
NM_001365536.1(SCN9A):c.4184G>A (p.Gly1395Asp) rs764682998
NM_001365536.1(SCN9A):c.4207G>T (p.Ala1403Ser)
NM_001365536.1(SCN9A):c.4932_4935del (p.Phe1645fs)
NM_001365536.1(SCN9A):c.5444T>C (p.Ile1815Thr)
NM_001365951.3(KIF1B):c.1108C>T (p.Arg370Cys)
NM_001365951.3(KIF1B):c.2980G>T (p.Ala994Ser)
NM_001365999.1(SZT2):c.7087G>A (p.Gly2363Arg) rs1557587748
NM_001365999.1(SZT2):c.7512-17dup
NM_001365999.1(SZT2):c.8074A>C (p.Ile2692Leu)
NM_001365999.1(SZT2):c.9636C>G (p.Phe3212Leu) rs1252399076
NM_001365999.1(SZT2):c.997C>G (p.Pro333Ala)
NM_001366110.1(PAX4):c.*196C>T
NM_001366145.2(TRPM3):c.223G>A (p.Val75Ile)
NM_001366145.2(TRPM3):c.3991G>T (p.Gly1331Cys)
NM_001366521.1(ATP2B1):c.1237A>G (p.Ile413Val)
NM_001366521.1(ATP2B1):c.3055G>C (p.Val1019Leu)
NM_001366722.1(GRIP1):c.1785A>C (p.Lys595Asn) rs1565721288
NM_001366722.1(GRIP1):c.1A>G (p.Met1Val)
NM_001366722.1(GRIP1):c.2464+3A>G
NM_001367498.1(CNTNAP5):c.733+2T>C rs1692484114
NM_001367561.1(DOCK7):c.3471+12G>A
NM_001367561.1(DOCK7):c.4283-5G>T
NM_001367624.2(ZNF469):c.11536dup (p.Arg3846fs) rs1192814702
NM_001367624.2(ZNF469):c.11671C>G (p.Leu3891Val) rs1419259989
NM_001367624.2(ZNF469):c.1534G>A (p.Glu512Lys) rs953454298
NM_001367624.2(ZNF469):c.2059G>A (p.Glu687Lys)
NM_001367624.2(ZNF469):c.2130_2132delinsCCG (p.Pro711Arg)
NM_001367624.2(ZNF469):c.2477C>G (p.Pro826Arg) rs772056680
NM_001367624.2(ZNF469):c.2898GTCGGG[1] (p.967SG[1]) rs281865147
NM_001367624.2(ZNF469):c.4516G>A (p.Glu1506Lys) rs2142306246
NM_001367624.2(ZNF469):c.8035C>T (p.Leu2679Phe) rs1304525923
NM_001367721.1(CASK):c.2155+4_2155+6delinsA rs752382791
NM_001367873.1(SOX6):c.1217A>G (p.Glu406Gly)
NM_001367873.1(SOX6):c.1408G>A (p.Gly470Arg)
NM_001367873.1(SOX6):c.1633C>T (p.Arg545Cys)
NM_001367873.1(SOX6):c.95G>T (p.Gly32Val)
NM_001368397.1(FRMPD4):c.182T>A (p.Phe61Tyr) rs2059162987
NM_001368397.1(FRMPD4):c.3046A>T (p.Met1016Leu) rs2042125862
NM_001368397.1(FRMPD4):c.3634A>G (p.Ser1212Gly)
NM_001368397.1(FRMPD4):c.3899C>G (p.Thr1300Ser)
NM_001368397.1(FRMPD4):c.933+3A>T
NM_001368809.2(AMPD2):c.1502C>T (p.Ala501Val)
NM_001369.3(DNAH5):c.11308A>G (p.Ser3770Gly) rs1747677646
NM_001369.3(DNAH5):c.3248A>T (p.Glu1083Val)
NM_001369268.1(ACAN):c.194C>A (p.Ser65Tyr)
NM_001369268.1(ACAN):c.2842G>C (p.Ala948Pro)
NM_001369268.1(ACAN):c.324C>G (p.Asn108Lys)
NM_001369268.1(ACAN):c.413G>C (p.Gly138Ala)
NM_001369268.1(ACAN):c.4281T>G (p.Asp1427Glu)
NM_001369268.1(ACAN):c.5317C>A (p.Leu1773Ile)
NM_001369369.1(FOXN1):c.505G>A (p.Glu169Lys)
NM_001370100.5(ZMYND11):c.1038_1039delinsGG (p.Cys347Gly)
NM_001370259.2(MEN1):c.119_124del (p.Val40_Leu41del) rs386134248
NM_001370259.2(MEN1):c.1295T>C (p.Leu432Pro) rs2136100876
NM_001370259.2(MEN1):c.1350G>C (p.Gln450His) rs1592636161
NM_001370259.2(MEN1):c.153C>A (p.Asn51Lys)
NM_001370259.2(MEN1):c.227C>T (p.Thr76Ile)
NM_001370259.2(MEN1):c.35C>G (p.Pro12Arg)
NM_001370259.2(MEN1):c.417C>A (p.His139Gln) rs386134254
NM_001370259.2(MEN1):c.638_639delinsAA (p.Ala213Glu) rs1114167518
NM_001370259.2(MEN1):c.644_652delinsGCCCCT (p.Val215_Arg218delinsGlyProTrp) rs386134257
NM_001370259.2(MEN1):c.654+3A>T rs1064793168
NM_001370259.2(MEN1):c.686G>A (p.Arg229His) rs878855197
NM_001370259.2(MEN1):c.689G>T (p.Cys230Phe)
NM_001370259.2(MEN1):c.776T>C (p.Leu259Pro) rs2136139920
NM_001370259.2(MEN1):c.830C>A (p.Pro277His) rs1060499973
NM_001370259.2(MEN1):c.979T>G (p.Tyr327Asp) rs1259383083
NM_001370298.3(FGD4):c.166+1G>A
NM_001370298.3(FGD4):c.1839G>A (p.Met613Ile)
NM_001370466.1(NOD2):c.1690G>A (p.Val564Ile)
NM_001370658.1(BTD):c.*159G>A rs530872564
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val) rs1553654107
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del) rs397514346
NM_001370658.1(BTD):c.239C>T (p.Ala80Val) rs1553652171
NM_001370658.1(BTD):c.827T>G (p.Val276Gly) rs397514391
NM_001370658.1(BTD):c.862A>C (p.Met288Leu) rs757604137
NM_001370658.1(BTD):c.881A>G (p.His294Arg) rs1553653888
NM_001371333.1(DIABLO):c.-1A>G
NM_001371596.2(MFSD8):c.1408A>G (p.Met470Val) rs764549054
NM_001371596.2(MFSD8):c.154G>A (p.Gly52Arg)
NM_001371623.1(TCOF1):c.1729C>G (p.Gln577Glu)
NM_001371623.1(TCOF1):c.3306_3314del (p.Ser1102_Gly1105delinsArg)
NM_001371623.1(TCOF1):c.3518-2A>G
NM_001371727.1(GABRB2):c.1151C>T (p.Pro384Leu)
NM_001371727.1(GABRB2):c.1265T>C (p.Met422Thr)
NM_001371904.1(APOA5):c.*17G>A
NM_001371904.1(APOA5):c.274A>G (p.Met92Val)
NM_001371904.1(APOA5):c.949C>G (p.Pro317Ala)
NM_001371928.1(AHDC1):c.1312C>A (p.Pro438Thr)
NM_001371928.1(AHDC1):c.2479G>A (p.Glu827Lys)
NM_001371928.1(AHDC1):c.2713G>A (p.Ala905Thr)
NM_001371928.1(AHDC1):c.3470C>T (p.Thr1157Met)
NM_001371928.1(AHDC1):c.4142C>T (p.Pro1381Leu)
NM_001371986.1(UNC80):c.5539G>T (p.Val1847Phe)
NM_001372044.2(SHANK3):c.3443C>T (p.Pro1148Leu)
NM_001372044.2(SHANK3):c.616G>T (p.Val206Leu)
NM_001372066.1(TFAP2A):c.248G>A (p.Ser83Asn)
NM_001372066.1(TFAP2A):c.752T>G (p.Leu251Arg)
NM_001374353.1(GLI2):c.1010C>T (p.Thr337Met)
NM_001374353.1(GLI2):c.1298C>T (p.Thr433Ile)
NM_001374353.1(GLI2):c.1394A>C (p.Lys465Thr)
NM_001374353.1(GLI2):c.1518C>A (p.His506Gln)
NM_001374353.1(GLI2):c.1672T>C (p.Tyr558His) rs763503195
NM_001374353.1(GLI2):c.1676C>T (p.Thr559Ile)
NM_001374353.1(GLI2):c.178G>C (p.Ala60Pro)
NM_001374353.1(GLI2):c.1861G>A (p.Glu621Lys)
NM_001374353.1(GLI2):c.2118G>A (p.Met706Ile)
NM_001374353.1(GLI2):c.2939C>T (p.Pro980Leu)
NM_001374353.1(GLI2):c.3190G>T (p.Gly1064Cys)
NM_001374353.1(GLI2):c.3367A>G (p.Asn1123Asp)
NM_001374353.1(GLI2):c.4027G>C (p.Gly1343Arg)
NM_001374385.1(ATP8B1):c.1046T>C (p.Ile349Thr)
NM_001374385.1(ATP8B1):c.1151G>A (p.Arg384His)
NM_001374385.1(ATP8B1):c.1240_1244delinsTG (p.Gly414_Gln415delinsTrp) rs2122850900
NM_001374385.1(ATP8B1):c.1928T>C (p.Leu643Pro)
NM_001374385.1(ATP8B1):c.2006_2007delinsCA (p.Trp669Ser) rs2122711462
NM_001374385.1(ATP8B1):c.2996T>G (p.Leu999Arg) rs2122577738
NM_001374385.1(ATP8B1):c.940+3A>G
NM_001374623.1(PNPLA1):c.434T>C (p.Ile145Thr)
NM_001374623.1(PNPLA1):c.527C>T (p.Thr176Met)
NM_001374675.1(HSF4):c.156C>A (p.Ser52Arg)
NM_001374736.1(DST):c.4009A>G (p.Ile1337Val)
NM_001374736.1(DST):c.503C>T (p.Ser168Phe)
NM_001374828.1(ARID1B):c.1286C>T (p.Ala429Val)
NM_001374828.1(ARID1B):c.1492G>T (p.Ala498Ser)
NM_001374828.1(ARID1B):c.1663G>A (p.Gly555Ser)
NM_001374828.1(ARID1B):c.2357C>T (p.Ala786Val)
NM_001374828.1(ARID1B):c.6507G>C (p.Leu2169Phe)
NM_001374828.1(ARID1B):c.988C>A (p.Arg330Ser) rs2114981971
NM_001375380.1(EBF3):c.*10T>C rs2133928026
NM_001375380.1(EBF3):c.373G>A (p.Asp125Asn) rs2134649012
NM_001375380.1(EBF3):c.437A>G (p.Lys146Arg)
NM_001375405.1(CEP120):c.1469T>C (p.Met490Thr)
NM_001375405.1(CEP120):c.321+14G>A
NM_001375524.1(TRRAP):c.10667_10668del (p.Glu3556fs)
NM_001375524.1(TRRAP):c.3407C>T (p.Pro1136Leu)
NM_001375524.1(TRRAP):c.4900G>C (p.Gly1634Arg)
NM_001375524.1(TRRAP):c.619A>G (p.Ser207Gly)
NM_001375524.1(TRRAP):c.8702G>C (p.Cys2901Ser)
NM_001376.5(DYNC1H1):c.1151T>C (p.Ile384Thr)
NM_001376.5(DYNC1H1):c.13308G>T (p.Gln4436His)
NM_001376.5(DYNC1H1):c.223C>T (p.His75Tyr)
NM_001376.5(DYNC1H1):c.4140T>G (p.Tyr1380Ter) rs1567006190
NM_001376.5(DYNC1H1):c.4250T>C (p.Met1417Thr)
NM_001376.5(DYNC1H1):c.4289C>A (p.Thr1430Asn) rs1171366952
NM_001376.5(DYNC1H1):c.6406-4G>C rs374602014
NM_001376.5(DYNC1H1):c.7072C>T (p.Arg2358Cys) rs879254019
NM_001376.5(DYNC1H1):c.8209_8210insT (p.Asp2737fs)
NM_001376571.1(MADD):c.640A>G (p.Ile214Val)
NM_001377.3(DYNC2H1):c.10695+20del
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser) rs769053227
NM_001377.3(DYNC2H1):c.1757T>G (p.Val586Gly) rs864622357
NM_001377.3(DYNC2H1):c.4268G>A (p.Arg1423His)
NM_001377.3(DYNC2H1):c.6206T>C (p.Val2069Ala)
NM_001377.3(DYNC2H1):c.7844T>C (p.Leu2615Pro)
NM_001377.3(DYNC2H1):c.8190G>T (p.Leu2730Phe) rs770800903
NM_001377.3(DYNC2H1):c.8354C>A (p.Ala2785Glu)
NM_001377.3(DYNC2H1):c.970C>T (p.Leu324Phe) rs1858493502
NM_001377265.1(MAPT):c.133+16T>C
NM_001377304.1(GFI1B):c.548G>A (p.Arg183Gln)
NM_001377405.1(ATXN7):c.143A>G (p.Gln48Arg)
NM_001378030.1(CCDC78):c.492+14C>T
NM_001378120.1(MBD5):c.1504C>T (p.Pro502Ser)
NM_001378120.1(MBD5):c.853G>A (p.Val285Ile)
NM_001378183.1(PIEZO2):c.1373C>G (p.Ser458Cys)
NM_001378183.1(PIEZO2):c.2743G>A (p.Gly915Arg) rs750411760
NM_001378183.1(PIEZO2):c.3249G>C (p.Arg1083Ser)
NM_001378183.1(PIEZO2):c.6775A>G (p.Met2259Val)
NM_001378183.1(PIEZO2):c.8216A>T (p.Tyr2739Phe)
NM_001378418.1(TCF20):c.118A>G (p.Asn40Asp)
NM_001378418.1(TCF20):c.1655C>T (p.Ala552Val)
NM_001378418.1(TCF20):c.1783G>A (p.Gly595Arg)
NM_001378418.1(TCF20):c.2120A>G (p.Tyr707Cys)
NM_001378418.1(TCF20):c.2305T>C (p.Ser769Pro) rs2147212306
NM_001378418.1(TCF20):c.317C>T (p.Pro106Leu)
NM_001378418.1(TCF20):c.3399_3401dup (p.Arg1133_Ser1134insArg)
NM_001378418.1(TCF20):c.3521G>T (p.Gly1174Val)
NM_001378418.1(TCF20):c.4387G>A (p.Ala1463Thr)
NM_001378418.1(TCF20):c.5666A>G (p.His1889Arg) rs2147094662
NM_001378418.1(TCF20):c.5750-14C>A
NM_001378418.1(TCF20):c.5753G>C (p.Cys1918Ser)
NM_001378418.1(TCF20):c.7T>C (p.Ser3Pro)
NM_001378452.1(ITPR1):c.5980-6T>C
NM_001378452.1(ITPR1):c.6337G>A (p.Asp2113Asn)
NM_001378452.1(ITPR1):c.8145A>C (p.Lys2715Asn)
NM_001378452.1(ITPR1):c.829A>G (p.Ser277Gly) rs1559603629
NM_001378454.1(ALMS1):c.10051G>C (p.Glu3351Gln)
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
NM_001378454.1(ALMS1):c.10577T>G (p.Met3526Arg)
NM_001378454.1(ALMS1):c.10827G>C (p.Gln3609His) rs2104105279
NM_001378454.1(ALMS1):c.10928C>G (p.Ser3643Cys)
NM_001378454.1(ALMS1):c.11316G>T (p.Glu3772Asp) rs1019748558
NM_001378454.1(ALMS1):c.11873-11G>T rs571456553
NM_001378454.1(ALMS1):c.12109C>G (p.Leu4037Val) rs1675685897
NM_001378454.1(ALMS1):c.12285G>T (p.Pro4095=) rs776912137
NM_001378454.1(ALMS1):c.12298+7C>G rs1252100215
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12411_12415del (p.Arg4138fs) rs2104216255
NM_001378454.1(ALMS1):c.12448C>T (p.Gln4150Ter) rs2104216417
NM_001378454.1(ALMS1):c.12475C>T (p.Gln4159Ter)
NM_001378454.1(ALMS1):c.1399A>T (p.Thr467Ser)
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
NM_001378454.1(ALMS1):c.207C>T (p.Asp69=) rs752874408
NM_001378454.1(ALMS1):c.2199T>A (p.Ser733Arg) rs1671860790
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp) rs754424459
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.3091A>G (p.Thr1031Ala)
NM_001378454.1(ALMS1):c.3323A>C (p.Gln1108Pro) rs570286860
NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile) rs752342634
NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.3763G>C (p.Asp1255His)
NM_001378454.1(ALMS1):c.3922G>A (p.Glu1308Lys)
NM_001378454.1(ALMS1):c.4084G>C (p.Val1362Leu) rs534858351
NM_001378454.1(ALMS1):c.4601A>G (p.Tyr1534Cys) rs751003573
NM_001378454.1(ALMS1):c.5111C>T (p.Thr1704Ile) rs755683870
NM_001378454.1(ALMS1):c.5221G>C (p.Val1741Leu) rs962844498
NM_001378454.1(ALMS1):c.5362G>A (p.Val1788Ile) rs1224043321
NM_001378454.1(ALMS1):c.5374_5375delinsAT (p.Ala1792Ile) rs1131691296
NM_001378454.1(ALMS1):c.5440G>T (p.Val1814Phe)
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.557A>T (p.Asp186Val) rs375830111
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.6302C>G (p.Ser2101Trp) rs28730854
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His) rs1386959032
NM_001378454.1(ALMS1):c.6864T>G (p.Asp2288Glu) rs2103791762
NM_001378454.1(ALMS1):c.7193C>T (p.Thr2398Ile) rs200470452
NM_001378454.1(ALMS1):c.7414G>C (p.Gly2472Arg) rs1672006091
NM_001378454.1(ALMS1):c.75_80del (p.Glu27_Glu28del) rs754175473
NM_001378454.1(ALMS1):c.7675-13_7675-10del
NM_001378454.1(ALMS1):c.7836G>A (p.Met2612Ile)
NM_001378454.1(ALMS1):c.8114C>T (p.Pro2705Leu)
NM_001378454.1(ALMS1):c.8281C>G (p.Pro2761Ala) rs369650940
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly) rs1672950843
NM_001378454.1(ALMS1):c.9914A>T (p.Asn3305Ile)
NM_001378457.1(DMXL2):c.6416A>T (p.Glu2139Val)
NM_001378457.1(DMXL2):c.8526+8T>C rs768003104
NM_001378457.1(DMXL2):c.8777C>T (p.Thr2926Met)
NM_001378615.1(CC2D2A):c.4533G>C (p.Trp1511Cys) rs777158229
NM_001378615.1(CC2D2A):c.4726G>C (p.Asp1576His) rs1064794798
NM_001378789.1(CERS3):c.118T>C (p.Tyr40His) rs2142329812
NM_001378964.1(CDON):c.173G>A (p.Arg58His)
NM_001378969.1(KCND3):c.1559G>A (p.Cys520Tyr)
NM_001378974.1(FBXW11):c.937G>A (p.Val313Ile) rs377635644
NM_001379029.1(CERT1):c.1201G>C (p.Val401Leu)
NM_001379029.1(CERT1):c.1346C>T (p.Ala449Val)
NM_001379029.1(CERT1):c.1613C>T (p.Ala538Val)
NM_001379029.1(CERT1):c.1636C>T (p.Arg546Cys)
NM_001379029.1(CERT1):c.554G>T (p.Cys185Phe)
NM_001379029.1(CERT1):c.871T>C (p.Tyr291His)
NM_001379081.2(FREM1):c.3236C>T (p.Ser1079Phe)
NM_001379110.1(SLC9A6):c.-57+21del rs782431608
NM_001379110.1(SLC9A6):c.163A>G (p.Ile55Val)
NM_001379200.1(TBX1):c.1096G>T (p.Asp366Tyr)
NM_001379200.1(TBX1):c.1513T>A (p.Ter505Lys)
NM_001379200.1(TBX1):c.215CGC[4] (p.Pro76del)
NM_001379210.1(SLC25A26):c.-13G>A
NM_001379270.1(CNGA1):c.545+5C>T
NM_001379403.1(WDR26):c.1196G>A (p.Arg399Gln) rs1673967254
NM_001379403.1(WDR26):c.2063G>A (p.Ser688Asn)
NM_001379403.1(WDR26):c.2249A>G (p.Gln750Arg)
NM_001379403.1(WDR26):c.523A>G (p.Asn175Asp)
NM_001379451.1(BCORL1):c.2080G>A (p.Val694Met)
NM_001379451.1(BCORL1):c.3463C>A (p.Pro1155Thr)
NM_001379451.1(BCORL1):c.3960AGA[3] (p.Glu1324dup) rs1292902846
NM_001379451.1(BCORL1):c.4274A>G (p.Lys1425Arg) rs2124502701
NM_001379500.1(COL18A1):c.-2G>A rs1321675148
NM_001379500.1(COL18A1):c.107-11397G>T
NM_001379500.1(COL18A1):c.107-11586del
NM_001379500.1(COL18A1):c.2869-8G>T rs770714794
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3]) rs759403198
NM_001379500.1(COL18A1):c.654G>T (p.Gly218=)
NM_001379610.1(SPINK1):c.*10_*38del
NM_001379610.1(SPINK1):c.*64del
NM_001379610.1(SPINK1):c.-1C>A
NM_001379610.1(SPINK1):c.121A>G (p.Lys41Glu) rs1554089812
NM_001379610.1(SPINK1):c.128A>G (p.Tyr43Cys) rs1561605311
NM_001379610.1(SPINK1):c.165del (p.Asn56fs) rs1756441909
NM_001379610.1(SPINK1):c.168T>A (p.Asn56Lys) rs1756441667
NM_001379610.1(SPINK1):c.188A>G (p.Glu63Gly) rs1223176202
NM_001379610.1(SPINK1):c.217A>T (p.Ile73Phe) rs982462613
NM_001379610.1(SPINK1):c.2T>G (p.Met1Arg) rs104893938
NM_001379610.1(SPINK1):c.35T>C (p.Leu12Ser)
NM_001379610.1(SPINK1):c.56-91_56-90del
NM_001379610.1(SPINK1):c.87+7A>T rs1756473313
NM_001379659.1(ZNF142):c.3757C>T (p.Arg1253Cys)
NM_001379659.1(ZNF142):c.4691C>G (p.Pro1564Arg) rs200075933
NM_001379659.1(ZNF142):c.95C>G (p.Ser32Cys)
NM_001382241.1(TNPO2):c.648+7C>T
NM_001382567.1(STIM1):c.58G>A (p.Gly20Ser) rs2135170451
NM_001382567.1(STIM1):c.792-4C>A rs200996329
NM_001383.6(DPH1):c.1086+2dup
NM_001383.6(DPH1):c.786_788del (p.Tyr263del)
NM_001383.6(DPH1):c.801_803del (p.Met268del)
NM_001384125.1(BLTP1):c.4719G>A (p.Met1573Ile)
NM_001384140.1(PCDH15):c.157+41373T>C
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.2624C>T (p.Ser875Leu)
NM_001384140.1(PCDH15):c.4343A>C (p.Tyr1448Ser) rs397517459
NM_001384140.1(PCDH15):c.895A>G (p.Ile299Val)
NM_001384474.1(LOXHD1):c.1419C>G (p.Ile473Met) rs545358723
NM_001384474.1(LOXHD1):c.2695C>T (p.Arg899Trp)
NM_001384474.1(LOXHD1):c.4940C>A (p.Ala1647Asp)
NM_001384474.1(LOXHD1):c.6049+4T>C
NM_001384474.1(LOXHD1):c.6052T>C (p.Tyr2018His)
NM_001384474.1(LOXHD1):c.6341+4T>G
NM_001384732.1(CPLANE1):c.3358A>G (p.Met1120Val)
NM_001384732.1(CPLANE1):c.3908T>C (p.Val1303Ala)
NM_001384732.1(CPLANE1):c.4168_4177delinsGTTG (p.Leu1390_Cys1393delinsValGly) rs2151198005
NM_001384732.1(CPLANE1):c.5421+5_5421+11delinsTGATAAATACAATTGATA
NM_001384732.1(CPLANE1):c.5819_5820+1del rs750448104
NM_001384732.1(CPLANE1):c.8326_8328delinsTTT (p.Glu2776Phe) rs1561422940
NM_001384732.1(CPLANE1):c.9610G>T (p.Glu3204Ter)
NM_001385012.1(NBEA):c.4928-17A>G
NM_001385012.1(NBEA):c.6179+6_6179+7del
NM_001385012.1(NBEA):c.8168T>G (p.Phe2723Cys)
NM_001385012.1(NBEA):c.872A>G (p.Tyr291Cys) rs2152563405
NM_001385079.1(PDE10A):c.2220-9A>C
NM_001385875.1(ZFYVE27):c.101C>T (p.Ala34Val)
NM_001386135.1(AFF3):c.3544G>A (p.Ala1182Thr)
NM_001386140.1(MTTP):c.1655C>T (p.Pro552Leu) rs758371780
NM_001386140.1(MTTP):c.2125G>A (p.Gly709Arg)
NM_001386298.1(CIC):c.1397C>T (p.Pro466Leu)
NM_001386298.1(CIC):c.1800C>T (p.Ala600=)
NM_001386298.1(CIC):c.1828C>T (p.Arg610Cys)
NM_001386298.1(CIC):c.3143G>A (p.Arg1048Gln) rs760049446
NM_001386298.1(CIC):c.355AAG[2] (p.Lys121del)
NM_001386298.1(CIC):c.3892C>G (p.Pro1298Ala) rs199556766
NM_001386298.1(CIC):c.3898C>T (p.Pro1300Ser)
NM_001386298.1(CIC):c.4334C>G (p.Ala1445Gly)
NM_001386298.1(CIC):c.5650A>G (p.Ser1884Gly)
NM_001386393.1(PANK2):c.1009G>A (p.Asp337Asn)
NM_001386393.1(PANK2):c.1083-3_1083-2del rs760705943
NM_001386393.1(PANK2):c.1112G>A (p.Arg371Gln) rs1241995212
NM_001386393.1(PANK2):c.1277A>G (p.Tyr426Cys) rs1193865095
NM_001386393.1(PANK2):c.416G>C (p.Arg139Pro)
NM_001386393.1(PANK2):c.457A>T (p.Ile153Phe)
NM_001386393.1(PANK2):c.568A>G (p.Arg190Gly)
NM_001386795.1(DTNA):c.148+8T>C
NM_001386795.1(DTNA):c.1561C>T (p.Arg521Trp)
NM_001386795.1(DTNA):c.1646+17A>G
NM_001386795.1(DTNA):c.2083G>T (p.Ala695Ser)
NM_001386795.1(DTNA):c.2295+5A>G rs191417978
NM_001387430.1(SH2B1):c.872G>A (p.Arg291His)
NM_001388492.1(HTT):c.2434C>T (p.Arg812Trp)
NM_001393504.1(MAST3):c.1477G>A (p.Val493Met)
NM_001393769.1(MED12L):c.1846G>T (p.Ala616Ser)
NM_001393769.1(MED12L):c.2381G>T (p.Ser794Ile) rs2150018879
NM_001393769.1(MED12L):c.4238T>C (p.Met1413Thr)
NM_001393769.1(MED12L):c.5828C>T (p.Pro1943Leu)
NM_001393769.1(MED12L):c.680T>G (p.Met227Arg)
NM_001393769.1(MED12L):c.787A>G (p.Arg263Gly)
NM_001394062.1(MACF1):c.13807A>G (p.Ile4603Val)
NM_001394062.1(MACF1):c.171+3A>C
NM_001394062.1(MACF1):c.2864_2865delinsCT (p.Trp955Ser) rs1646259225
NM_001394062.1(MACF1):c.3989A>G (p.Gln1330Arg)
NM_001394073.1(HS6ST2):c.1742C>T (p.Pro581Leu)
NM_001394073.1(HS6ST2):c.536A>G (p.Gln179Arg)
NM_001394372.1(BICRA):c.4304T>G (p.Val1435Gly)
NM_001394998.1(TANC2):c.2107T>A (p.Ser703Thr)
NM_001394998.1(TANC2):c.77G>A (p.Ser26Asn)
NM_001395413.1(POR):c.138G>C (p.Lys46Asn)
NM_001395413.1(POR):c.1928_1930del (p.Phe643del)
NM_001395413.1(POR):c.2032T>G (p.Ter678Glu) rs782566269
NM_001395413.1(POR):c.636GGA[2] (p.Glu214del) rs782434696
NM_001395413.1(POR):c.804C>A (p.Ser268Arg) rs201598971
NM_001397.3(ECE1):c.1601C>T (p.Ala534Val)
NM_001399.5(EDA):c.398T>C (p.Met133Thr)
NM_001399.5(EDA):c.931T>C (p.Tyr311His) rs1085307599
NM_001414.4(EIF2B1):c.13+5A>G
NM_001414.4(EIF2B1):c.577G>A (p.Val193Ile) rs1028819794
NM_001414.4(EIF2B1):c.627+3A>G
NM_001414.4(EIF2B1):c.770_771del (p.Leu257fs) rs746435041
NM_001429.4(EP300):c.2596C>A (p.Pro866Thr)
NM_001429.4(EP300):c.3261+3A>G
NM_001429.4(EP300):c.3569C>T (p.Thr1190Ile)
NM_001429.4(EP300):c.3772T>C (p.Cys1258Arg) rs2145756430
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
NM_001429.4(EP300):c.4934_4939del (p.Arg1645_Ala1647delinsPro)
NM_001429.4(EP300):c.6722A>G (p.Gln2241Arg)
NM_001447.3(FAT2):c.10027G>T (p.Val3343Leu)
NM_001447.3(FAT2):c.10054del (p.Pro3351_Leu3352insTer)
NM_001447.3(FAT2):c.11171T>C (p.Met3724Thr)
NM_001447.3(FAT2):c.12538G>C (p.Val4180Leu)
NM_001447.3(FAT2):c.1277G>A (p.Arg426Lys)
NM_001447.3(FAT2):c.12933_12936del (p.Cys4312fs)
NM_001447.3(FAT2):c.2197C>T (p.Pro733Ser)
NM_001447.3(FAT2):c.3214C>A (p.Arg1072Ser)
NM_001447.3(FAT2):c.5629T>C (p.Tyr1877His)
NM_001447.3(FAT2):c.698G>A (p.Gly233Asp)
NM_001447.3(FAT2):c.7359G>T (p.Arg2453Ser)
NM_001447.3(FAT2):c.8147T>C (p.Val2716Ala)
NM_001448.3(GPC4):c.1028C>T (p.Pro343Leu)
NM_001457.4(FLNB):c.1925G>A (p.Gly642Asp)
NM_001457.4(FLNB):c.2056-15_2056-10del
NM_001457.4(FLNB):c.2484+8G>T rs759532391
NM_001457.4(FLNB):c.317A>G (p.Asn106Ser)
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr) rs1356745912
NM_001457.4(FLNB):c.6367+7G>C rs201871482
NM_001458.5(FLNC):c.325C>A (p.Arg109Ser) rs2128932240
NM_001458.5(FLNC):c.3882C>G (p.Asn1294Lys) rs1808552408
NM_001458.5(FLNC):c.4024G>C (p.Val1342Leu)
NM_001458.5(FLNC):c.4150G>A (p.Gly1384Ser)
NM_001458.5(FLNC):c.7078G>A (p.Ala2360Thr) rs1390516682
NM_001482.3(GATM):c.1159+17A>T
NM_001493.3(GDI1):c.275T>C (p.Leu92Pro) rs121434607
NM_001527.4(HDAC2):c.323T>C (p.Phe108Ser) rs1776561501
NM_001540.5(HSPB1):c.380G>A (p.Arg127Gln) rs587781250
NM_001540.5(HSPB1):c.80G>T (p.Arg27Leu) rs367662394
NM_001556.3(IKBKB):c.2115-8T>C rs2130735549
NM_001556.3(IKBKB):c.2269T>C (p.Ter757Arg)
NM_001571.6(IRF3):c.1004G>A (p.Gly335Glu)
NM_001571.6(IRF3):c.286C>T (p.Arg96Trp)
NM_001571.6(IRF3):c.84C>G (p.Asn28Lys)
NM_001605.3(AARS1):c.2722-28_2740dup rs768242660
NM_001609.4(ACADSB):c.1A>T (p.Met1Leu)
NM_001609.4(ACADSB):c.908G>C (p.Gly303Ala)
NM_001611.5(ACP5):c.418C>T (p.His140Tyr) rs2145089608
NM_001613.4(ACTA2):c.139G>A (p.Val47Met) rs1181233032
NM_001613.4(ACTA2):c.274T>C (p.Phe92Leu)
NM_001613.4(ACTA2):c.991-7C>T rs765100909
NM_001614.5(ACTG1):c.270C>A (p.Phe90Leu)
NM_001625.4(AK2):c.523C>G (p.Arg175Gly) rs1375379850
NM_001643.2(APOA2):c.293C>A (p.Ala98Asp) rs1666183842
NM_001655.5(ARCN1):c.428T>G (p.Val143Gly)
NM_001655.5(ARCN1):c.479G>A (p.Arg160His)
NM_001658.4(ARF1):c.283A>C (p.Asn95His)
NM_001673.5(ASNS):c.1138G>T (p.Ala380Ser) rs758183057
NM_001673.5(ASNS):c.347T>C (p.Met116Thr) rs76704189
NM_001673.5(ASNS):c.751A>G (p.Arg251Gly)
NM_001673.5(ASNS):c.753_755del (p.Arg252del) rs752897486
NM_001677.4(ATP1B1):c.568-20A>C
NM_001677.4(ATP1B1):c.97+10G>C rs1657604508
NM_001680.5(FXYD2):c.185A>G (p.Asn62Ser)
NM_001690.4(ATP6V1A):c.1292_1293insTCTATCTAATCTA (p.Phe432fs) rs2108040640
NM_001692.4(ATP6V1B1):c.1249-15_1249-11del rs886056273
NM_001692.4(ATP6V1B1):c.1513C>T (p.Gln505Ter) rs2104834953
NM_001693.4(ATP6V1B2):c.961C>T (p.Arg321Ter)
NM_001701.4(BAAT):c.134A>G (p.Tyr45Cys)
NM_001711.6(BGN):c.196G>A (p.Gly66Ser)
NM_001711.6(BGN):c.771-7C>A rs782014544
NM_001715.3(BLK):c.742G>A (p.Gly248Arg) rs763307492
NM_001733.7(C1R):c.2000G>A (p.Arg667His)
NM_001733.7(C1R):c.395A>T (p.Lys132Met)
NM_001733.7(C1R):c.635G>A (p.Arg212Gln)
NM_001734.5(C1S):c.2001_2017dup (p.Asp673delinsGlyTer)
NM_001735.3(C5):c.4083A>G (p.Val1361=)
NM_001739.2(CA5A):c.767_774+13del rs762768981
NM_001742.4(CALCR):c.1358del (p.Asn453fs) rs753161420
NM_001744.6(CAMK4):c.940C>T (p.Gln314Ter) rs1755482400
NM_001807.6(CEL):c.1974del (p.Val659fs) rs1341981506
NM_001813.3(CENPE):c.1410T>A (p.Asp470Glu)
NM_001814.6(CTSC):c.706G>T (p.Asp236Tyr)
NM_001830.4(CLCN4):c.1318A>G (p.Thr440Ala)
NM_001830.4(CLCN4):c.1506C>G (p.Asn502Lys)
NM_001844.5(COL2A1):c.2679G>C (p.Pro893=) rs369684691
NM_001845.6(COL4A1):c.1120+3G>A
NM_001845.6(COL4A1):c.1605C>A (p.Phe535Leu)
NM_001845.6(COL4A1):c.2705C>T (p.Pro902Leu) rs146134172
NM_001845.6(COL4A1):c.3325+8A>C
NM_001845.6(COL4A1):c.3556+16T>A
NM_001845.6(COL4A1):c.4727C>T (p.Ser1576Leu)
NM_001845.6(COL4A1):c.4994G>A (p.Cys1665Tyr) rs794727751
NM_001846.4(COL4A2):c.1064C>T (p.Pro355Leu)
NM_001846.4(COL4A2):c.1754T>C (p.Phe585Ser)
NM_001846.4(COL4A2):c.1894C>T (p.Arg632Cys)
NM_001846.4(COL4A2):c.2488G>A (p.Gly830Ser) rs1333372502
NM_001846.4(COL4A2):c.3094A>G (p.Ile1032Val) rs2139529268
NM_001846.4(COL4A2):c.4996C>T (p.His1666Tyr) rs1884100870
NM_001846.4(COL4A2):c.684+19G>C
NM_001846.4(COL4A2):c.861+3A>G
NM_001846.4(COL4A2):c.862-7C>T
NM_001848.3(COL6A1):c.1603G>A (p.Gly535Arg) rs764556767
NM_001848.3(COL6A1):c.1801A>C (p.Met601Leu) rs774610686
NM_001848.3(COL6A1):c.508G>T (p.Gly170Trp) rs370889024
NM_001849.4(COL6A2):c.2351G>T (p.Arg784Leu)
NM_001849.4(COL6A2):c.2857G>A (p.Gly953Ser)
NM_001849.4(COL6A2):c.2917G>T (p.Val973Leu) rs145959270
NM_001849.4(COL6A2):c.350C>T (p.Ser117Phe)
NM_001851.6(COL9A1):c.2504-11A>G
NM_001852.4(COL9A2):c.1753G>A (p.Val585Met) rs202153520
NM_001852.4(COL9A2):c.1792+5G>A
NM_001853.4(COL9A3):c.543_551del (p.179PPG[2]) rs765392378
NM_001853.4(COL9A3):c.893G>C (p.Gly298Ala) rs764062674
NM_001853.4(COL9A3):c.97C>T (p.Pro33Ser) rs745914662
NM_001854.4(COL11A1):c.106+8A>G
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1309-4A>T
NM_001854.4(COL11A1):c.1792-17T>C rs2101851501
NM_001854.4(COL11A1):c.1945-19C>T rs1571000550
NM_001854.4(COL11A1):c.2196+17T>C
NM_001854.4(COL11A1):c.2864G>C (p.Gly955Ala)
NM_001854.4(COL11A1):c.4228C>T (p.Arg1410Trp) rs778331804
NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg) rs2106116333
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg) rs1553512974
NM_001875.5(CPS1):c.2002C>T (p.Pro668Ser)
NM_001875.5(CPS1):c.2021A>T (p.Asn674Ile)
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys) rs1559102901
NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
NM_001875.5(CPS1):c.3069C>A (p.Asp1023Glu)
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys) rs146968493
NM_001875.5(CPS1):c.3927+4A>G
NM_001875.5(CPS1):c.3959A>T (p.Asp1320Val)
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu) rs1202306773
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His) rs1553519513
NM_001876.4(CPT1A):c.1352+5C>A
NM_001876.4(CPT1A):c.2142+6T>C rs777779540
NM_001904.4(CTNNB1):c.599G>T (p.Arg200Leu)
NM_001909.5(CTSD):c.28G>T (p.Ala10Ser) rs1845913637
NM_001918.5(DBT):c.1126C>T (p.Arg376Cys) rs768389398
NM_001918.5(DBT):c.1281+4C>G
NM_001918.5(DBT):c.206T>G (p.Leu69Arg)
NM_001918.5(DBT):c.413T>C (p.Ile138Thr)
NM_001918.5(DBT):c.433+6G>A
NM_001918.5(DBT):c.717_720delinsCAAACCTCCG (p.Leu240delinsLysProPro)
NM_001918.5(DBT):c.872G>T (p.Arg291Leu) rs775808731
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.439G>A (p.Glu147Lys)
NM_001927.4(DES):c.472GAGCTGCGG[3] (p.Arg163_Arg164insGluLeuArg)
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.700G>A (p.Glu234Lys) rs774739275
NM_001931.5(DLAT):c.470T>G (p.Val157Gly) rs797044957
NM_001940.4(ATN1):c.1464GCA[8] (p.Gln496_Gln502del) rs60216939
NM_001940.4(ATN1):c.2566C>G (p.Pro856Ala)
NM_001943.5(DSG2):c.1194C>G (p.Ser398Arg) rs770669833
NM_001943.5(DSG2):c.1483A>T (p.Asn495Tyr)
NM_001943.5(DSG2):c.2112T>G (p.Ile704Met) rs794728081
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu) rs772240008
NM_001943.5(DSG2):c.2435G>A (p.Gly812Asp)
NM_001943.5(DSG2):c.2524G>C (p.Gly842Arg)
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr) rs2073123855
NM_001943.5(DSG2):c.3251C>T (p.Pro1084Leu)
NM_001943.5(DSG2):c.3281_3283delinsTTA (p.Gly1094_His1095delinsValAsn) rs386802145
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala) rs778884735
NM_001943.5(DSG2):c.42_44del (p.Leu15del) rs2072994567
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205
NM_001953.5(TYMP):c.1135G>A (p.Glu379Lys)
NM_001953.5(TYMP):c.1160G>A (p.Gly387Asp) rs1064792873
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_001958.5(EEF1A2):c.324+9G>A rs2145945388
NM_001961.4(EEF2):c.1531G>T (p.Ala511Ser)
NM_001961.4(EEF2):c.238G>A (p.Glu80Lys)
NM_001966.4(EHHADH):c.2100dup (p.Leu701fs)
NM_001966.4(EHHADH):c.828_830delinsCAT (p.Arg276_Lys277delinsSerIle) rs1560008854
NM_001987.5(ETV6):c.-29G>A
NM_001987.5(ETV6):c.985G>A (p.Ala329Thr)
NM_001994.3(F13B):c.1803_1806delinsAAC (p.Asp601fs)
NM_001994.3(F13B):c.451+3A>G
NM_001999.4(FBN2):c.1105G>T (p.Gly369Cys)
NM_001999.4(FBN2):c.2675-20C>T
NM_001999.4(FBN2):c.3815A>G (p.Tyr1272Cys)
NM_001999.4(FBN2):c.4098_4099delinsCA (p.Asp1367Asn)
NM_001999.4(FBN2):c.4099+12G>A
NM_001999.4(FBN2):c.4472-18_4472-17delinsA rs863223596
NM_001999.4(FBN2):c.6173A>G (p.Asn2058Ser)
NM_002016.2(FLG):c.7595C>T (p.Ser2532Leu) rs756739106
NM_002024.6(FMR1):c.1109G>A (p.Ser370Asn)
NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln)
NM_002025.4(AFF2):c.2725G>A (p.Glu909Lys)
NM_002025.4(AFF2):c.3267+5G>C rs374064624
NM_002047.4(GARS1):c.1171C>A (p.Arg391Ser) rs370057212
NM_002047.4(GARS1):c.1304A>G (p.Asn435Ser)
NM_002055.5(GFAP):c.1127+2T>A
NM_002055.5(GFAP):c.145C>T (p.Arg49Trp)
NM_002055.5(GFAP):c.403G>A (p.Ala135Thr)
NM_002055.5(GFAP):c.428A>G (p.Asn143Ser)
NM_002055.5(GFAP):c.586G>T (p.Glu196Ter)
NM_002055.5(GFAP):c.934G>A (p.Glu312Lys) rs763868966
NM_002067.5(GNA11):c.476+1G>C rs138878739
NM_002069.6(GNAI1):c.875-2A>G
NM_002074.5(GNB1):c.-16G>A
NM_002074.5(GNB1):c.280C>T (p.Pro94Ser) rs1646671069
NM_002074.5(GNB1):c.916+3A>G
NM_002074.5(GNB1):c.99C>G (p.Ile33Met)
NM_002076.4(GNS):c.1581-2A>G
NM_002087.4:c.(?_-41)_(-8+1_-7-1)del
NM_002108.4(HAL):c.840G>A (p.Trp280Ter)
NM_002109.6(HARS1):c.173C>T (p.Thr58Ile)
NM_002113.3(CFHR1):c.259dup (p.Cys87fs)
NM_002113.3(CFHR1):c.835G>A (p.Ala279Thr)
NM_002137.4(HNRNPA2B1):c.830A>G (p.Asn277Ser)
NM_002139.4(RBMX):c.389-17T>C
NM_002148.4(HOXD10):c.125A>G (p.Asp42Gly)
NM_002150.3(HPD):c.163C>T (p.Arg55Trp) rs2137633084
NM_002150.3(HPD):c.460G>A (p.Gly154Ser)
NM_002150.3(HPD):c.978C>G (p.Tyr326Ter) rs781659195
NM_002156.5(HSPD1):c.*16T>C
NM_002156.5(HSPD1):c.1679_1687del (p.Ala560_Gly562del)
NM_002156.5(HSPD1):c.323A>C (p.Glu108Ala)
NM_002156.5(HSPD1):c.946A>G (p.Met316Val)
NM_002160.4(TNC):c.5758G>T (p.Val1920Phe)
NM_002168.4(IDH2):c.1271+3G>A
NM_002168.4(IDH2):c.640G>A (p.Ala214Thr)
NM_002180.3(IGHMBP2):c.1807C>T (p.Arg603Cys) rs1465803265
NM_002185.5(IL7R):c.536C>T (p.Thr179Met)
NM_002185.5(IL7R):c.882A>C (p.Leu294Phe) rs193922647
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn) rs910454086
NM_002225.5(IVD):c.1138+3_1138+14del
NM_002225.5(IVD):c.380G>T (p.Gly127Val) rs1195537609
NM_002225.5(IVD):c.860T>C (p.Leu287Pro)
NM_002225.5(IVD):c.889G>A (p.Ala297Thr) rs2141355228
NM_002226.5(JAG2):c.3046C>T (p.Arg1016Trp)
NM_002230.4(JUP):c.1232C>T (p.Ala411Val) rs1060502680
NM_002230.4(JUP):c.1730G>T (p.Arg577Leu) rs373434456
NM_002230.4(JUP):c.2046+7A>G
NM_002230.4(JUP):c.737C>A (p.Ala246Asp) rs1419166927
NM_002230.4(JUP):c.842A>G (p.Asn281Ser) rs574465470
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
NM_002230.4(JUP):c.905G>A (p.Ser302Asn) rs570714124
NM_002234.4(KCNA5):c.601C>T (p.Arg201Cys) rs764783669
NM_002249.6(KCNN3):c.470A>C (p.Gln157Pro)
NM_002249.6(KCNN3):c.592C>G (p.Leu198Val)
NM_002267.4(KPNA3):c.1028A>C (p.Asn343Thr)
NM_002294.3(LAMP2):c.1024G>A (p.Ala342Thr)
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg) rs1200950486
NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr) rs141541387
NM_002294.3(LAMP2):c.865-8del rs746330494
NM_002317.7(LOX):c.631+6T>G
NM_002317.7(LOX):c.91C>T (p.Pro31Ser)
NM_002334.4(LRP4):c.1280G>A (p.Arg427Gln) rs569764064
NM_002335.4(LRP5):c.169A>G (p.Ile57Val)
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln) rs1019409513
NM_002335.4(LRP5):c.796C>T (p.Arg266Cys)
NM_002335.4(LRP5):c.893G>A (p.Arg298His)
NM_002381.5(MATN3):c.541C>G (p.Arg181Gly)
NM_002408.4(MGAT2):c.76A>G (p.Ser26Gly)
NM_002430.3(MN1):c.113C>A (p.Ala38Asp) rs1933412795
NM_002430.3(MN1):c.25C>G (p.Pro9Ala) rs763125504
NM_002430.3(MN1):c.3048G>C (p.Leu1016Phe)
NM_002430.3(MN1):c.36C>A (p.Asn12Lys)
NM_002435.3(MPI):c.42G>T (p.Gln14His)
NM_002435.3(MPI):c.455G>A (p.Arg152Gln)
NM_002444.3(MSN):c.1222C>T (p.Arg408Trp) rs748200741
NM_002449.5(MSX2):c.789G>T (p.Met263Ile)
NM_002465.4(MYBPC1):c.1526+5G>A
NM_002465.4(MYBPC1):c.283A>G (p.Lys95Glu)
NM_002470.4(MYH3):c.1960-5C>T
NM_002470.4(MYH3):c.3413G>A (p.Ser1138Asn)
NM_002470.4(MYH3):c.52C>T (p.Arg18Trp)
NM_002471.4(MYH6):c.2068del (p.Leu690fs) rs779614256
NM_002471.4(MYH6):c.2357T>A (p.Ile786Asn)
NM_002471.4(MYH6):c.3252-1G>A
NM_002471.4(MYH6):c.3331A>G (p.Lys1111Glu) rs1566509397
NM_002471.4(MYH6):c.3979-9_3979-7delinsG rs796876119
NM_002471.4(MYH6):c.4265G>T (p.Arg1422Leu) rs574433291
NM_002471.4(MYH6):c.5476G>C (p.Gly1826Arg) rs202141059
NM_002471.4(MYH6):c.5513C>G (p.Ser1838Trp) rs747673552
NM_002471.4(MYH6):c.5565+5G>A
NM_002471.4(MYH6):c.5566-16del rs1890917892
NM_002471.4(MYH6):c.751A>G (p.Ile251Val)
NM_002471.4(MYH6):c.992T>C (p.Met331Thr)
NM_002472.3(MYH8):c.3137A>C (p.Lys1046Thr)
NM_002473.6(MYH9):c.1537G>A (p.Asp513Asn)
NM_002473.6(MYH9):c.2976+9C>T
NM_002473.6(MYH9):c.4222T>C (p.Tyr1408His)
NM_002473.6(MYH9):c.4489C>T (p.Arg1497Trp)
NM_002473.6(MYH9):c.4745A>G (p.Glu1582Gly)
NM_002474.3(MYH11):c.1575+6G>A rs2041769693
NM_002474.3(MYH11):c.1864+18C>T
NM_002474.3(MYH11):c.2195C>A (p.Ala732Glu) rs764831521
NM_002474.3(MYH11):c.2747A>G (p.Lys916Arg) rs1382626826
NM_002474.3(MYH11):c.3115C>G (p.Leu1039Val) rs1223757069
NM_002474.3(MYH11):c.3654C>G (p.Ala1218=) rs1555554196
NM_002474.3(MYH11):c.404C>T (p.Ser135Leu) rs760445629
NM_002474.3(MYH11):c.4150G>A (p.Ala1384Thr) rs775802674
NM_002474.3(MYH11):c.5222TGGAGGAGGAGC[3] (p.1741LEEE[3]) rs777249764
NM_002474.3(MYH11):c.531-19_531-17del rs2042478963
NM_002474.3(MYH11):c.5488G>A (p.Val1830Ile) rs185904370
NM_002474.3(MYH11):c.5732C>G (p.Thr1911Arg) rs748516947
NM_002474.3(MYH11):c.809G>C (p.Arg270Pro)
NM_002474.3(MYH11):c.886A>G (p.Arg296Gly) rs2042214133
NM_002474.3(MYH11):c.95C>G (p.Ala32Gly)
NM_002485.5(NBN):c.-2C>A rs202104448
NM_002485.5(NBN):c.1012C>T (p.Pro338Ser) rs1554560467
NM_002485.5(NBN):c.101T>G (p.Leu34Arg) rs1012390181
NM_002485.5(NBN):c.1073T>G (p.Val358Gly) rs1563538793
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala) rs1563538728
NM_002485.5(NBN):c.1197_1198inv (p.Ala400Thr)
NM_002485.5(NBN):c.1199C>T (p.Ala400Val) rs779218232
NM_002485.5(NBN):c.1216T>G (p.Ser406Ala) rs1810666368
NM_002485.5(NBN):c.1313G>T (p.Ser438Ile) rs786203131
NM_002485.5(NBN):c.1397+4T>G rs770699381
NM_002485.5(NBN):c.1444A>G (p.Arg482Gly) rs886063168
NM_002485.5(NBN):c.1456T>C (p.Ser486Pro) rs587781380
NM_002485.5(NBN):c.1588T>G (p.Ser530Ala)
NM_002485.5(NBN):c.1603T>G (p.Ser535Ala) rs1563526265
NM_002485.5(NBN):c.1666G>A (p.Val556Met) rs771567358
NM_002485.5(NBN):c.171G>T (p.Leu57=) rs1554569001
NM_002485.5(NBN):c.1769G>C (p.Arg590Thr) rs1563524967
NM_002485.5(NBN):c.1814A>T (p.Asp605Val) rs1810522103
NM_002485.5(NBN):c.1842A>G (p.Ile614Met) rs770345026
NM_002485.5(NBN):c.1913C>A (p.Ser638Tyr) rs756036331
NM_002485.5(NBN):c.2053T>G (p.Phe685Val) rs768715280
NM_002485.5(NBN):c.2132_2134delinsTTT (p.His711_His712delinsLeuTyr)
NM_002485.5(NBN):c.2184+6_2184+8del rs1810028870
NM_002485.5(NBN):c.220T>C (p.Tyr74His) rs587780094
NM_002485.5(NBN):c.2224G>T (p.Asp742Tyr) rs746479577
NM_002485.5(NBN):c.250C>A (p.Gln84Lys) rs1586108714
NM_002485.5(NBN):c.268A>G (p.Thr90Ala) rs1554568315
NM_002485.5(NBN):c.280G>A (p.Gly94Arg) rs1563580785
NM_002485.5(NBN):c.304T>C (p.Phe102Leu) rs1554568285
NM_002485.5(NBN):c.361G>T (p.Asp121Tyr) rs777916019
NM_002485.5(NBN):c.37+2dup rs876658183
NM_002485.5(NBN):c.38-1G>A rs1812140936
NM_002485.5(NBN):c.406G>A (p.Gly136Arg) rs1554567936
NM_002485.5(NBN):c.503G>A (p.Gly168Glu) rs1554566728
NM_002485.5(NBN):c.517A>G (p.Lys173Glu) rs1563574056
NM_002485.5(NBN):c.637T>G (p.Ser213Ala) rs1811503894
NM_002485.5(NBN):c.702+8T>C rs1563561325
NM_002485.5(NBN):c.914T>C (p.Ile305Thr) rs1586076225
NM_002485.5(NBN):c.976C>G (p.Gln326Glu) rs121908973
NM_002495.4(NDUFS4):c.2T>C (p.Met1Thr) rs768297131
NM_002500.5(NEUROD1):c.337C>T (p.Arg113Cys)
NM_002500.5(NEUROD1):c.616dup (p.His206fs) rs387906384
NM_002516.4(NOVA2):c.1211G>A (p.Ser404Asn)
NM_002516.4(NOVA2):c.241C>T (p.Arg81Trp)
NM_002524.5(NRAS):c.203G>C (p.Arg68Thr) rs1659097707
NM_002524.5(NRAS):c.503T>A (p.Met168Lys) rs1658970846
NM_002524.5(NRAS):c.5C>T (p.Thr2Ile) rs1659160002
NM_002529.4(NTRK1):c.1579G>C (p.Ala527Pro)
NM_002539.3(ODC1):c.661A>G (p.Met221Val)
NM_002544.5(OMG):c.151T>C (p.Ser51Pro)
NM_002547.3(OPHN1):c.1025+13G>A
NM_002578.5(PAK3):c.1520G>A (p.Arg507Gln)
NM_002598.4(PDCD2):c.101G>C (p.Arg34Pro) rs1001626835
NM_002608.4(PDGFB):c.313G>A (p.Glu105Lys)
NM_002609.4(PDGFRB):c.1762C>T (p.Pro588Ser)
NM_002609.4(PDGFRB):c.2029A>G (p.Ile677Val)
NM_002617.4(PEX10):c.203C>A (p.Thr68Asn) rs2100430231
NM_002617.4(PEX10):c.21C>A (p.Ser7Arg) rs1296095268
NM_002618.4(PEX13):c.1117C>T (p.Gln373Ter)
NM_002633.3(PGM1):c.170T>C (p.Leu57Pro)
NM_002637.4(PHKA1):c.1245+4A>C
NM_002637.4(PHKA1):c.2526G>A (p.Glu842=)
NM_002637.4(PHKA1):c.3389C>T (p.Ala1130Val) rs2147639170
NM_002641.4(PIGA):c.1201G>A (p.Val401Ile) rs759697480
NM_002641.4(PIGA):c.424G>A (p.Ala142Thr) rs1569179995
NM_002655.3(PLAG1):c.1373C>G (p.Pro458Arg)
NM_002661.5(PLCG2):c.2236-19T>G rs2143686815
NM_002691.4(POLD1):c.1114G>A (p.Glu372Lys) rs960226186
NM_002691.4(POLD1):c.1226G>C (p.Arg409Pro) rs749611798
NM_002691.4(POLD1):c.2872C>G (p.Leu958Val)
NM_002691.4(POLD1):c.463+6T>G rs759315897
NM_002691.4(POLD1):c.574C>G (p.Leu192Val) rs374937343
NM_002691.4(POLD1):c.835_837del (p.Glu279del) rs746341854
NM_002691.4(POLD1):c.898_899delinsTT (p.Pro300Leu) rs1060501821
NM_002693.3(POLG):c.1491G>C (p.Gln497His) rs121918052
NM_002693.3(POLG):c.1716G>T (p.Trp572Cys)
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.3(POLG):c.1822G>A (p.Asp608Asn)
NM_002693.3(POLG):c.2244G>T (p.Trp748Cys)
NM_002693.3(POLG):c.2263A>C (p.Lys755Gln)
NM_002693.3(POLG):c.2308T>C (p.Phe770Leu)
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)
NM_002693.3(POLG):c.235C>T (p.Leu79Phe)
NM_002693.3(POLG):c.2440G>A (p.Val814Met)
NM_002693.3(POLG):c.2862C>G (p.Ile954Met) rs2152060967
NM_002693.3(POLG):c.2963CCA[3] (p.Thr989_Lys990insThr)
NM_002693.3(POLG):c.3311C>T (p.Ser1104Phe)
NM_002693.3(POLG):c.3356T>C (p.Leu1119Pro) rs2152058721
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys) rs767138032
NM_002693.3(POLG):c.3544G>A (p.Ala1182Thr) rs1481381913
NM_002693.3(POLG):c.394G>A (p.Gly132Arg)
NM_002693.3(POLG):c.394G>C (p.Gly132Arg)
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002709.3(PPP1CB):c.744+8A>G
NM_002715.4(PPP2CA):c.312+23G>T
NM_002734.5(PRKAR1A):c.1051G>A (p.Asp351Asn)
NM_002734.5(PRKAR1A):c.1110C>A (p.Ile370=) rs62638722
NM_002734.5(PRKAR1A):c.1133C>A (p.Ser378Ter)
NM_002734.5(PRKAR1A):c.1133C>T (p.Ser378Leu) rs1568703465
NM_002734.5(PRKAR1A):c.441-5del rs777677808
NM_002734.5(PRKAR1A):c.441-6T>C rs1340450132
NM_002734.5(PRKAR1A):c.47G>A (p.Arg16Gln) rs2085401218
NM_002734.5(PRKAR1A):c.550-6C>T rs1555814031
NM_002734.5(PRKAR1A):c.791G>A (p.Arg264His) rs1303569195
NM_002734.5(PRKAR1A):c.917G>A (p.Arg306Gln) rs1568702564
NM_002739.5(PRKCG):c.-12G>T
NM_002739.5(PRKCG):c.263C>T (p.Ala88Val) rs2068615098
NM_002739.5(PRKCG):c.382G>C (p.Gly128Arg) rs1568752939
NM_002739.5(PRKCG):c.518T>G (p.Ile173Ser)
NM_002739.5(PRKCG):c.687-6C>T
NM_002742.3(PRKD1):c.1270A>G (p.Met424Val)
NM_002742.3(PRKD1):c.1570G>A (p.Val524Ile)
NM_002745.5(MAPK1):c.679A>G (p.Ile227Val)
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.140G>A (p.Arg47Gln) rs1567009054
NM_002755.4(MAP2K1):c.291+14_291+19delinsTCTCAC
NM_002755.4(MAP2K1):c.29A>T (p.Gln10Leu) rs2093343985
NM_002755.4(MAP2K1):c.519A>T (p.Val173=) rs1471931068
NM_002755.4(MAP2K1):c.568+6A>G rs1430324310
NM_002755.4(MAP2K1):c.586A>G (p.Ile196Val) rs2140667372
NM_002755.4(MAP2K1):c.794_860dup (p.Pro287_Pro288insSerArgCysGlnGlyAlaGlyAlaAspValTrpValProGlyGlyArgArgCysGlyTer) rs1893005622
NM_002755.4(MAP2K1):c.802G>A (p.Ala268Thr) rs1555420656
NM_002755.4(MAP2K1):c.961-61_997dup rs1893152621
NM_002755.4(MAP2K1):c.970A>C (p.Lys324Gln) rs762436311
NM_002768.5(CHMP1A):c.160C>T (p.Arg54Cys)
NM_002768.5(CHMP1A):c.202C>T (p.Arg68Cys)
NM_002768.5(CHMP1A):c.570-1G>C rs2059771358
NM_002769.4(PRSS1):c.-28_-8del21 rs755789680
NM_002769.5(PRSS1):c.-10C>A
NM_002769.5(PRSS1):c.1A>G (p.Met1Val)
NM_002769.5(PRSS1):c.1A>T (p.Met1Leu)
NM_002769.5(PRSS1):c.313A>G (p.Asn105Asp)
NM_002769.5(PRSS1):c.325A>C (p.Met109Leu)
NM_002769.5(PRSS1):c.347G>A (p.Arg116His) rs199769221
NM_002769.5(PRSS1):c.386C>T (p.Pro129Leu) rs768673799
NM_002769.5(PRSS1):c.40+15C>T rs760370254
NM_002769.5(PRSS1):c.454+3G>T rs375996400
NM_002769.5(PRSS1):c.468C>G (p.Asp156Glu)
NM_002769.5(PRSS1):c.469G>C (p.Glu157Gln) rs200890507
NM_002769.5(PRSS1):c.50C>A (p.Pro17His)
NM_002769.5(PRSS1):c.50C>T (p.Pro17Leu) rs776401461
NM_002769.5(PRSS1):c.592-4C>G rs375342697
NM_002769.5(PRSS1):c.614T>C (p.Val205Ala) rs747422004
NM_002769.5(PRSS1):c.651_652delinsCT (p.Asp218Tyr) rs1554499629
NM_002769.5(PRSS1):c.659G>A (p.Cys220Tyr)
NM_002769.5(PRSS1):c.694G>T (p.Val232Phe)
NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser) rs781563777
NM_002778.4(PSAP):c.1467G>T (p.Leu489Phe)
NM_002778.4(PSAP):c.589G>T (p.Val197Phe)
NM_002816.5(PSMD12):c.1104G>T (p.Lys368Asn) rs1388460098
NM_002816.5(PSMD12):c.166A>G (p.Thr56Ala)
NM_002834.5(PTPN11):c.-13G>A rs760374212
NM_002834.5(PTPN11):c.-7G>A
NM_002834.5(PTPN11):c.1093A>C (p.Ser365Arg) rs1566183223
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.1495T>A (p.Ser499Thr) rs1566186813
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg) rs1173984843
NM_002834.5(PTPN11):c.1660A>G (p.Ser554Gly) rs2135928795
NM_002834.5(PTPN11):c.1669C>A (p.Gln557Lys) rs1024227490
NM_002834.5(PTPN11):c.318T>A (p.Asp106Glu)
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.561T>G (p.Phe187Leu) rs2135869491
NM_002834.5(PTPN11):c.562G>A (p.Asp188Asn) rs1555267939
NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala) rs768555552
NM_002834.5(PTPN11):c.853+4A>C
NM_002834.5(PTPN11):c.862A>G (p.Thr288Ala) rs2135900982
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg) rs772684421
NM_002838.5(PTPRC):c.1526G>A (p.Arg509Lys) rs749379347
NM_002838.5(PTPRC):c.1864+4_1864+7del rs773117955
NM_002857.4(PEX19):c.152_155delinsG (p.Gln51_Lys52delinsArg) rs2101805710
NM_002860.4(ALDH18A1):c.2051C>A (p.Ala684Asp)
NM_002863.5(PYGL):c.806A>G (p.Asp269Gly) rs557868018
NM_002878.4(RAD51D):c.-7G>A rs553444507
NM_002878.4(RAD51D):c.131G>C (p.Gly44Ala) rs374730714
NM_002878.4(RAD51D):c.137C>T (p.Ser46Phe)
NM_002878.4(RAD51D):c.14G>A (p.Arg5Lys) rs2091799333
NM_002878.4(RAD51D):c.163C>T (p.Arg55Trp) rs775268017
NM_002878.4(RAD51D):c.16G>C (p.Val6Leu) rs368198698
NM_002878.4(RAD51D):c.1A>T (p.Met1Leu) rs561425038
NM_002878.4(RAD51D):c.256A>T (p.Ile86Phe) rs587782063
NM_002878.4(RAD51D):c.283G>A (p.Ala95Thr) rs1567728746
NM_002878.4(RAD51D):c.325C>T (p.Pro109Ser) rs2091620469
NM_002878.4(RAD51D):c.488C>T (p.Ala163Val) rs775176916
NM_002878.4(RAD51D):c.620C>G (p.Ser207Trp) rs370228071
NM_002878.4(RAD51D):c.629C>A (p.Ala210Glu) rs376855484
NM_002878.4(RAD51D):c.669C>G (p.Gly223=) rs1567726315
NM_002878.4(RAD51D):c.769A>G (p.Ser257Gly) rs1567724999
NM_002878.4(RAD51D):c.806G>A (p.Ser269Asn) rs876658762
NM_002878.4(RAD51D):c.82+5_82+13delinsT rs2091796708
NM_002878.4(RAD51D):c.82+8_82+15del rs1321571652
NM_002878.4(RAD51D):c.842T>C (p.Ile281Thr) rs1060502957
NM_002878.4(RAD51D):c.904-12TTC[2] rs779850240
NM_002880.4(RAF1):c.1144C>T (p.Pro382Ser) rs1575546471
NM_002880.4(RAF1):c.1193+13C>T
NM_002880.4(RAF1):c.1194-17TCCCC[2] rs2058496555
NM_002880.4(RAF1):c.1483C>T (p.Arg495Cys)
NM_002880.4(RAF1):c.1613T>C (p.Leu538Ser) rs730881011
NM_002880.4(RAF1):c.1673T>C (p.Ile558Thr) rs1559399152
NM_002880.4(RAF1):c.1720_1760dup (p.Asp587_Cys588insIleArgThrAlaProLysGlnTer) rs2058275378
NM_002880.4(RAF1):c.1724A>C (p.Lys575Thr) rs767890715
NM_002880.4(RAF1):c.1842G>A (p.Pro614=) rs200235582
NM_002880.4(RAF1):c.1927C>T (p.Pro643Ser) rs876657967
NM_002880.4(RAF1):c.207+10C>T rs2059446210
NM_002880.4(RAF1):c.321-4delinsTG rs2125421173
NM_002880.4(RAF1):c.325_327del (p.Lys109del) rs1418886913
NM_002880.4(RAF1):c.68_70del (p.Asp23del) rs749549707
NM_002880.4(RAF1):c.784A>C (p.Asn262His) rs1575573204
NM_002880.4(RAF1):c.837T>A (p.Asp279Glu) rs2125381916
NM_002880.4(RAF1):c.991-17A>G
NM_002894.3(RBBP8):c.1486del (p.Arg496fs)
NM_002905.5(RDH5):c.124C>T (p.Arg42Cys)
NM_002936.6(RNASEH1):c.510-2A>G
NM_002941.4(ROBO1):c.1832C>A (p.Ala611Glu)
NM_002972.4(SBF1):c.279+3C>T
NM_002972.4(SBF1):c.4025C>T (p.Pro1342Leu)
NM_002972.4(SBF1):c.5443A>G (p.Lys1815Glu)
NM_003000.3(SDHB):c.541-8_541-7delinsAG
NM_003000.3(SDHB):c.612C>G (p.Asp204Glu) rs1553177433
NM_003000.3(SDHB):c.642G>C (p.Gln214His) rs1278834014
NM_003011.4(SET):c.664-6_664-4del
NM_003036.4(SKI):c.2167G>C (p.Ala723Pro)
NM_003036.4(SKI):c.969+10C>T
NM_003042.4(SLC6A1):c.1366A>T (p.Ser456Cys) rs1697893468
NM_003051.4(SLC16A1):c.590C>G (p.Pro197Arg)
NM_003051.4(SLC16A1):c.629C>G (p.Ser210Cys)
NM_003059.3(SLC22A4):c.393+1G>A
NM_003060.4(SLC22A5):c.428C>A (p.Pro143Gln)
NM_003060.4(SLC22A5):c.47C>T (p.Pro16Leu)
NM_003070.5(SMARCA2):c.1534G>A (p.Glu512Lys) rs1820557172
NM_003070.5(SMARCA2):c.1692+3G>C
NM_003070.5(SMARCA2):c.2392T>G (p.Ser798Ala)
NM_003070.5(SMARCA2):c.2844G>T (p.Arg948Ser)
NM_003070.5(SMARCA2):c.4344T>G (p.Asp1448Glu)
NM_003072.5(SMARCA4):c.2559C>A (p.Phe853Leu)
NM_003072.5(SMARCA4):c.3067G>A (p.Glu1023Lys) rs1555780047
NM_003073.5(SMARCB1):c.1127G>C (p.Arg376Thr)
NM_003073.5(SMARCB1):c.433G>A (p.Val145Met) rs1601401880
NM_003073.5(SMARCB1):c.538G>T (p.Ala180Ser)
NM_003079.5(SMARCE1):c.1070G>A (p.Gly357Asp) rs2143980805
NM_003079.5(SMARCE1):c.541+8A>G rs1478738793
NM_003098.3(SNTA1):c.1498del (p.Arg500fs) rs1568745571
NM_003098.3(SNTA1):c.256C>T (p.Arg86Cys)
NM_003098.3(SNTA1):c.869G>A (p.Gly290Glu)
NM_003104.6(SORD):c.950del (p.Asn317fs)
NM_003107.3(SOX4):c.1001C>G (p.Pro334Arg) rs905546274
NM_003107.3(SOX4):c.1054G>A (p.Gly352Ser)
NM_003107.3(SOX4):c.1135_1137delinsGCG (p.Ser379Ala) rs2113558606
NM_003108.4(SOX11):c.1007C>T (p.Ser336Leu)
NM_003108.4(SOX11):c.235A>C (p.Ile79Leu) rs1665660680
NM_003108.4(SOX11):c.641G>C (p.Gly214Ala)
NM_003119.4(SPG7):c.1033G>C (p.Ala345Pro) rs368373840
NM_003119.4(SPG7):c.124C>T (p.Pro42Ser)
NM_003119.4(SPG7):c.1598C>T (p.Ala533Val)
NM_003119.4(SPG7):c.1636G>A (p.Glu546Lys)
NM_003119.4(SPG7):c.1730G>C (p.Gly577Ala) rs1329063851
NM_003119.4(SPG7):c.1931C>A (p.Thr644Asn)
NM_003119.4(SPG7):c.2051_2052delinsAC (p.Met684Asn)
NM_003119.4(SPG7):c.2052G>C (p.Met684Ile)
NM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)
NM_003119.4(SPG7):c.2365G>T (p.Glu789Ter) rs372033226
NM_003119.4(SPG7):c.2379del (p.Trp793fs)
NM_003119.4(SPG7):c.2T>A (p.Met1Lys) rs1332265538
NM_003119.4(SPG7):c.698T>C (p.Leu233Pro)
NM_003119.4(SPG7):c.740G>A (p.Arg247Gln)
NM_003119.4(SPG7):c.82G>A (p.Ala28Thr)
NM_003128.3(SPTBN1):c.2168G>A (p.Arg723Gln)
NM_003128.3(SPTBN1):c.220C>T (p.Arg74Trp)
NM_003128.3(SPTBN1):c.4166G>A (p.Cys1389Tyr)
NM_003128.3(SPTBN1):c.5595G>C (p.Glu1865Asp)
NM_003128.3(SPTBN1):c.6920C>A (p.Ser2307Tyr)
NM_003128.3(SPTBN1):c.890C>G (p.Ala297Gly) rs1678045192
NM_003172.4(SURF1):c.17C>A (p.Ala6Glu) rs587727919
NM_003172.4(SURF1):c.211G>T (p.Val71Leu) rs147993882
NM_003172.4(SURF1):c.55-5C>T
NM_003172.4(SURF1):c.551G>A (p.Arg184Lys)
NM_003172.4(SURF1):c.584G>T (p.Gly195Val)
NM_003172.4(SURF1):c.737T>C (p.Ile246Thr)
NM_003172.4(SURF1):c.813_818dup (p.His271_Leu272dup) rs782488388
NM_003177.7(SYK):c.1448A>G (p.Lys483Arg)
NM_003179.3(SYP):c.109G>A (p.Ala37Thr)
NM_003179.3(SYP):c.61G>C (p.Val21Leu)
NM_003184.4(TAF2):c.2654A>G (p.Asp885Gly) rs1820999112
NM_003185.4(TAF4):c.16G>A (p.Asp6Asn)
NM_003185.4(TAF4):c.2060C>T (p.Ser687Leu)
NM_003193.5(TBCE):c.2T>A (p.Met1Lys)
NM_003221.4(TFAP2B):c.545T>C (p.Val182Ala)
NM_003227.4(TFR2):c.1235A>T (p.Asn412Ile)
NM_003227.4(TFR2):c.2176G>A (p.Asp726Asn)
NM_003235.5(TG):c.3040G>A (p.Asp1014Asn)
NM_003235.5(TG):c.7997G>A (p.Gly2666Glu)
NM_003238.6(TGFB2):c.1129T>C (p.Ser377Pro)
NM_003238.6(TGFB2):c.346+16375G>A
NM_003238.6(TGFB2):c.355C>T (p.Pro119Ser)
NM_003238.6(TGFB2):c.387T>G (p.Ile129Met)
NM_003238.6(TGFB2):c.59G>C (p.Ser20Thr)
NM_003238.6(TGFB2):c.754+4A>G
NM_003238.6(TGFB2):c.917C>T (p.Ala306Val)
NM_003239.5(TGFB3):c.1184C>A (p.Thr395Asn)
NM_003239.5(TGFB3):c.1214T>C (p.Val405Ala) rs774909501
NM_003239.5(TGFB3):c.353-4C>G
NM_003239.5(TGFB3):c.876C>T (p.Gly292=)
NM_003239.5(TGFB3):c.883G>A (p.Gly295Ser)
NM_003239.5(TGFB3):c.96C>A (p.Phe32Leu) rs748977151
NM_003242.6(TGFBR2):c.103G>A (p.Asp35Asn) rs984098699
NM_003242.6(TGFBR2):c.1152T>A (p.Asn384Lys) rs193922661
NM_003242.6(TGFBR2):c.1163A>G (p.Lys388Arg) rs193922662
NM_003242.6(TGFBR2):c.1273A>C (p.Met425Leu) rs104893817
NM_003242.6(TGFBR2):c.1340T>A (p.Val447Asp) rs1575158992
NM_003242.6(TGFBR2):c.1397-157_1397-153del rs1279882821
NM_003242.6(TGFBR2):c.1441C>T (p.His481Tyr) rs762756916
NM_003242.6(TGFBR2):c.1514T>C (p.Leu505Pro) rs2125452246
NM_003242.6(TGFBR2):c.1525-15_1576dup
NM_003242.6(TGFBR2):c.437A>T (p.Asn146Ile) rs863223836
NM_003242.6(TGFBR2):c.699C>A (p.Asn233Lys)
NM_003242.6(TGFBR2):c.[1152T>A;1163A>G]
NM_003280.3(TNNC1):c.-7C>A
NM_003280.3(TNNC1):c.285G>T (p.Glu95Asp) rs2153229927
NM_003280.3(TNNC1):c.317+6C>G rs2153229925
NM_003280.3(TNNC1):c.454+16G>A
NM_003285.3(TNR):c.2039T>C (p.Met680Thr)
NM_003289.4(TPM2):c.773-3_773-2insCA
NM_003322.6(TULP1):c.1246C>T (p.Arg416Cys) rs200769197
NM_003383.5(VLDLR):c.103C>G (p.Pro35Ala) rs2130778088
NM_003384.3(VRK1):c.1144_1145insCTCG (p.Glu382fs)
NM_003403.5(YY1):c.221_241del (p.His74_His80del)
NM_003412.4(ZIC1):c.1097T>A (p.Met366Lys) rs1189648689
NM_003412.4(ZIC1):c.314G>C (p.Arg105Pro)
NM_003412.4(ZIC1):c.679T>C (p.Cys227Arg) rs2107993157
NM_003470.3(USP7):c.1838T>C (p.Met613Thr)
NM_003470.3(USP7):c.987+14del
NM_003476.5(CSRP3):c.118T>G (p.Cys40Gly)
NM_003476.5(CSRP3):c.509-20C>T
NM_003477.3(PDHX):c.1432G>C (p.Val478Leu)
NM_003477.3(PDHX):c.250G>A (p.Val84Met)
NM_003477.3(PDHX):c.28G>T (p.Asp10Tyr) rs2133931933
NM_003477.3(PDHX):c.474G>T (p.Glu158Asp) rs148723565
NM_003477.3(PDHX):c.798_800delinsCGGACAACCCAATGCAGTGGTAGTGT (p.Gly273fs)
NM_003480.4(MFAP5):c.136C>T (p.Pro46Ser)
NM_003482.4(KMT2D):c.1099C>T (p.Pro367Ser)
NM_003482.4(KMT2D):c.12349G>A (p.Gly4117Arg)
NM_003482.4(KMT2D):c.12737C>T (p.Pro4246Leu)
NM_003482.4(KMT2D):c.3317C>G (p.Pro1106Arg)
NM_003482.4(KMT2D):c.3412G>A (p.Gly1138Arg)
NM_003482.4(KMT2D):c.4901C>T (p.Ala1634Val)
NM_003482.4(KMT2D):c.5441G>A (p.Arg1814Lys)
NM_003482.4(KMT2D):c.6457C>T (p.Pro2153Ser)
NM_003482.4(KMT2D):c.7445G>C (p.Gly2482Ala)
NM_003489.4(NRIP1):c.3465_3468del (p.Lys1155fs)
NM_003491.4(NAA10):c.287G>A (p.Arg96Gln)
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs) rs34391522
NM_003560.4(PLA2G6):c.1258G>A (p.Gly420Arg)
NM_003560.4(PLA2G6):c.1288C>T (p.Pro430Ser)
NM_003560.4(PLA2G6):c.1506G>C (p.Lys502Asn) rs1555988382
NM_003560.4(PLA2G6):c.1511C>T (p.Ser504Leu)
NM_003560.4(PLA2G6):c.1547C>T (p.Ala516Val)
NM_003560.4(PLA2G6):c.1630A>C (p.Met544Leu)
NM_003560.4(PLA2G6):c.2159C>T (p.Thr720Ile)
NM_003560.4(PLA2G6):c.343C>T (p.Arg115Cys) rs995653548
NM_003560.4(PLA2G6):c.419TCA[1] (p.Ile141del)
NM_003560.4(PLA2G6):c.671T>C (p.Leu224Pro) rs2145803751
NM_003560.4(PLA2G6):c.692G>T (p.Gly231Val)
NM_003560.4(PLA2G6):c.920G>A (p.Gly307Asp)
NM_003560.4(PLA2G6):c.945_947dup (p.Ala316dup) rs797045889
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003611.3(OFD1):c.2119C>T (p.Leu707Phe)
NM_003611.3(OFD1):c.2261-6C>T
NM_003611.3(OFD1):c.2758-2A>T
NM_003619.4(PRSS12):c.1413_1416dup (p.His473fs) rs752784904
NM_003619.4(PRSS12):c.1843C>T (p.Leu615Phe)
NM_003619.4(PRSS12):c.1888C>T (p.Arg630Trp)
NM_003619.4(PRSS12):c.1917-1G>C
NM_003619.4(PRSS12):c.2116G>T (p.Glu706Ter)
NM_003619.4(PRSS12):c.450C>A (p.Phe150Leu)
NM_003619.4(PRSS12):c.718C>T (p.Arg240Ter)
NM_003620.4(PPM1D):c.1379A>C (p.Asn460Thr)
NM_003620.4(PPM1D):c.472+18T>C
NM_003632.3(CNTNAP1):c.1457-6C>T
NM_003640.5(ELP1):c.1189+20G>A rs999307275
NM_003640.5(ELP1):c.2066G>A (p.Arg689Gln)
NM_003640.5(ELP1):c.2528A>G (p.His843Arg) rs1828577961
NM_003640.5(ELP1):c.2908T>A (p.Leu970Met) rs180931232
NM_003640.5(ELP1):c.3572+5G>A rs773132143
NM_003640.5(ELP1):c.575_579delinsGG (p.Asp192_Asp193delinsGly)
NM_003647.3(DGKE):c.233C>G (p.Ala78Gly) rs775804689
NM_003647.3(DGKE):c.41A>G (p.Glu14Gly)
NM_003659.4(AGPS):c.1697+2T>C rs2105726638
NM_003659.4(AGPS):c.49_54dup (p.Ala17_Ser18dup) rs771730798
NM_003659.4(AGPS):c.709+4G>C
NM_003659.4(AGPS):c.71A>T (p.Asp24Val) rs2105576037
NM_003659.4(AGPS):c.77A>T (p.Asp26Val) rs2105576052
NM_003659.4(AGPS):c.89A>T (p.Asp30Val) rs1685058706
NM_003664.5(AP3B1):c.1928C>T (p.Ala643Val)
NM_003664.5(AP3B1):c.2890T>G (p.Leu964Val) rs750377910
NM_003664.5(AP3B1):c.2968_2969delinsTT (p.Glu990Leu) rs2112065832
NM_003664.5(AP3B1):c.3090del (p.Asn1031fs)
NM_003664.5(AP3B1):c.751T>C (p.Tyr251His)
NM_003673.4(TCAP):c.184C>T (p.Gln62Ter)
NM_003673.4(TCAP):c.341A>G (p.Gln114Arg) rs1355624192
NM_003673.4(TCAP):c.428T>C (p.Val143Ala) rs2145074575
NM_003701.4(TNFSF11):c.350G>A (p.Arg117Lys) rs2137867049
NM_003718.5(CDK13):c.1148C>T (p.Ser383Phe)
NM_003718.5(CDK13):c.1702A>C (p.Ser568Arg)
NM_003718.5(CDK13):c.2544-16G>A
NM_003718.5(CDK13):c.2912C>T (p.Ala971Val) rs751856305
NM_003718.5(CDK13):c.3092T>C (p.Met1031Thr)
NM_003718.5(CDK13):c.4303G>A (p.Ala1435Thr)
NM_003719.5(PDE8B):c.671C>T (p.Ala224Val)
NM_003722.5(TP63):c.587C>G (p.Thr196Ser)
NM_003730.6(RNASET2):c.394AAG[1] (p.Lys133del)
NM_003737.4(DCHS1):c.22G>C (p.Val8Leu)
NM_003737.4(DCHS1):c.8308C>T (p.Arg2770Ter)
NM_003738.5(PTCH2):c.2900_2917dup (p.Leu972_Val973insAlaValCysIleLeuLeu)
NM_003742.4(ABCB11):c.1145C>G (p.Ala382Gly)
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
NM_003742.4(ABCB11):c.1213T>C (p.Cys405Arg)
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser) rs886043807
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
NM_003742.4(ABCB11):c.335T>C (p.Ile112Thr)
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003745.2(SOCS1):c.139G>A (p.Ala47Thr)
NM_003748.4(ALDH4A1):c.1505G>A (p.Gly502Asp)
NM_003748.4(ALDH4A1):c.1567del (p.Ala523fs)
NM_003754.3(EIF3F):c.523del (p.Thr175fs)
NM_003846.3(PEX11B):c.544G>A (p.Gly182Ser) rs1559221717
NM_003859.3(DPM1):c.1A>G (p.Met1Val) rs139624629
NM_003863.4(DPM2):c.139del (p.Arg47fs) rs1831509811
NM_003865.3(HESX1):c.-7C>A
NM_003895.4(SYNJ1):c.-5G>T
NM_003900.5(SQSTM1):c.436C>T (p.Pro146Ser)
NM_003907.3(EIF2B5):c.1543T>G (p.Trp515Gly)
NM_003907.3(EIF2B5):c.2059C>T (p.Gln687Ter)
NM_003920.5(TIMELESS):c.1413T>G (p.Asn471Lys)
NM_003922.4(HERC1):c.125T>C (p.Val42Ala)
NM_003922.4(HERC1):c.8981_9024delinsTTCAATCAGCACATGAAGAGAAACCATCCAGGCTGTGGGCG (p.His2994_Arg3008delinsLeuGlnSerAlaHisGluGluLysProSerArgLeuTrpAla)
NM_003923.3(FOXH1):c.584G>T (p.Gly195Val)
NM_003931.3(WASF1):c.540+16A>T
NM_003937.3(KYNU):c.735T>G (p.Cys245Trp)
NM_003982.4(SLC7A7):c.1533_1536del (p.Asn511fs)
NM_003982.4(SLC7A7):c.571A>G (p.Lys191Glu) rs386833820
NM_003982.4(SLC7A7):c.737A>G (p.Asn246Ser)
NM_003995.4(NPR2):c.2316C>G (p.Asp772Glu)
NM_003995.4(NPR2):c.482A>G (p.Asn161Ser)
NM_003999.3(OSMR):c.1286-3C>T
NM_003999.3(OSMR):c.1927C>G (p.Leu643Val)
NM_004004.6(GJB2):c.-12C>T rs1959064381
NM_004004.6(GJB2):c.-169C>G
NM_004004.6(GJB2):c.-170C>G rs1006263046
NM_004004.6(GJB2):c.-90A>G
NM_004004.6(GJB2):c.100A>T (p.Met34Leu) rs564084861
NM_004004.6(GJB2):c.111_113del (p.Val38del) rs1959062436
NM_004004.6(GJB2):c.191G>A (p.Cys64Tyr)
NM_004004.6(GJB2):c.200A>G (p.His67Arg)
NM_004004.6(GJB2):c.221T>C (p.Ile74Thr) rs1959060919
NM_004004.6(GJB2):c.239A>G (p.Gln80Arg)
NM_004004.6(GJB2):c.280C>T (p.His94Tyr) rs1593351383
NM_004004.6(GJB2):c.35G>A (p.Gly12Asp) rs1801002
NM_004004.6(GJB2):c.362T>C (p.Ile121Thr) rs1959058587
NM_004004.6(GJB2):c.380G>T (p.Arg127Leu) rs111033196
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241
NM_004004.6(GJB2):c.445G>A (p.Ala149Thr) rs111033225
NM_004004.6(GJB2):c.458T>C (p.Val153Ala)
NM_004004.6(GJB2):c.475G>A (p.Asp159Asn) rs373684994
NM_004004.6(GJB2):c.475G>T (p.Asp159Tyr)
NM_004004.6(GJB2):c.557C>A (p.Thr186Lys)
NM_004004.6(GJB2):c.9G>T (p.Trp3Cys) rs111033401
NM_004006.2:c.(1992+1_1993-1)_(4233+1_4234-1)[3]
NM_004006.3(DMD):c.-164_-132del
NM_004006.3(DMD):c.10034G>A (p.Arg3345Gln)
NM_004006.3(DMD):c.10728_10731inv (p.Met3576_Gln3577delinsIleCys)
NM_004006.3(DMD):c.1098A>T (p.Gly366=) rs72470507
NM_004006.3(DMD):c.187-10_187-6del rs1557079581
NM_004006.3(DMD):c.2381A>G (p.Glu794Gly)
NM_004006.3(DMD):c.31+8C>T
NM_004006.3(DMD):c.3433-20GTTT[2] rs771258264
NM_004006.3(DMD):c.3922-3C>T rs786205603
NM_004006.3(DMD):c.3929A>C (p.Glu1310Ala) rs2148194722
NM_004006.3(DMD):c.4296G>C (p.Gln1432His) rs747262903
NM_004006.3(DMD):c.5068_5070del (p.His1690del) rs761764494
NM_004006.3(DMD):c.5200A>G (p.Thr1734Ala) rs2097842153
NM_004006.3(DMD):c.5884A>C (p.Lys1962Gln) rs2097746777
NM_004006.3(DMD):c.5922+3G>C rs398124000
NM_004006.3(DMD):c.6652A>G (p.Arg2218Gly) rs2094863769
NM_004006.3(DMD):c.8027+19C>A rs1202693482
NM_004006.3(DMD):c.8333G>A (p.Arg2778His) rs2071050854
NM_004006.3(DMD):c.8391-305A>T
NM_004006.3(DMD):c.8582T>A (p.Val2861Glu)
NM_004006.3(DMD):c.8628G>A (p.Gln2876=)
NM_004006.3(DMD):c.9137G>A (p.Gly3046Asp) rs2148491931
NM_004035.7(ACOX1):c.1789A>C (p.Thr597Pro) rs2144232768
NM_004044.7(ATIC):c.688+3A>G
NM_004086.3(COCH):c.73G>C (p.Glu25Gln)
NM_004100.5(EYA4):c.1816GAA[2] (p.Glu608del) rs763110500
NM_004100.5(EYA4):c.438-6A>T rs1794468804
NM_004100.5(EYA4):c.806A>T (p.Asp269Val) rs1562457061
NM_004104.5(FASN):c.5600_5602del (p.Gly1867del) rs746627809
NM_004114.5(FGF13):c.-146508G>A
NM_004114.5(FGF13):c.694G>A (p.Val232Met)
NM_004168.4(SDHA):c.1535G>A (p.Arg512Gln) rs192818312
NM_004168.4(SDHA):c.1667T>C (p.Met556Thr) rs1579438769
NM_004168.4(SDHA):c.1712T>C (p.Leu571Pro) rs1736817446
NM_004171.4(SLC1A2):c.1084G>A (p.Ala362Thr)
NM_004171.4(SLC1A2):c.508G>A (p.Asp170Asn)
NM_004172.5(SLC1A3):c.1290-15T>C
NM_004181.5(UCHL1):c.341T>A (p.Leu114Gln)
NM_004183.4(BEST1):c.811C>A (p.Leu271Ile) rs1308281595
NM_004187.5(KDM5C):c.1951A>G (p.Met651Val)
NM_004187.5(KDM5C):c.2368+11G>A
NM_004187.5(KDM5C):c.2663G>T (p.Arg888Leu) rs375850872
NM_004187.5(KDM5C):c.3120+4A>C
NM_004187.5(KDM5C):c.805C>G (p.Pro269Ala)
NM_004187.5(KDM5C):c.964-15C>T
NM_004208.4(AIFM1):c.680T>C (p.Val227Ala)
NM_004247.4(EFTUD2):c.1085C>G (p.Thr362Ser)
NM_004247.4(EFTUD2):c.1652T>C (p.Leu551Pro) rs2145461077
NM_004247.4(EFTUD2):c.595C>T (p.Leu199Phe)
NM_004260.4(RECQL4):c.266G>A (p.Ser89Asn) rs372648595
NM_004268.5(MED17):c.325A>C (p.Met109Leu) rs144529403
NM_004268.5(MED17):c.774+3A>G
NM_004281.4(BAG3):c.1088A>C (p.Glu363Ala) rs1345725468
NM_004281.4(BAG3):c.1135G>A (p.Gly379Ser) rs886951707
NM_004281.4(BAG3):c.1318G>A (p.Asp440Asn) rs878854652
NM_004281.4(BAG3):c.1496T>A (p.Ile499Asn)
NM_004281.4(BAG3):c.206C>T (p.Pro69Leu)
NM_004281.4(BAG3):c.533A>G (p.Asp178Gly)
NM_004304.5(ALK):c.266G>T (p.Gly89Val)
NM_004329.3(BMPR1A):c.1098A>C (p.Lys366Asn) rs1060503397
NM_004329.3(BMPR1A):c.1102A>G (p.Ile368Val) rs1589291789
NM_004329.3(BMPR1A):c.1190C>G (p.Pro397Arg) rs878854662
NM_004329.3(BMPR1A):c.1280T>C (p.Met427Thr) rs1843667096
NM_004329.3(BMPR1A):c.1281G>A (p.Met427Ile) rs769212314
NM_004329.3(BMPR1A):c.1376A>G (p.Asn459Ser) rs1564725605
NM_004329.3(BMPR1A):c.1380G>C (p.Met460Ile) rs1206243685
NM_004329.3(BMPR1A):c.1438C>T (p.Arg480Trp) rs876658515
NM_004329.3(BMPR1A):c.1457G>A (p.Arg486Gln) rs752802257
NM_004329.3(BMPR1A):c.1587T>A (p.Asp529Glu) rs864622175
NM_004329.3(BMPR1A):c.20A>G (p.Tyr7Cys)
NM_004329.3(BMPR1A):c.231-9C>T rs763313220
NM_004329.3(BMPR1A):c.241C>T (p.His81Tyr) rs953797046
NM_004329.3(BMPR1A):c.356G>A (p.Arg119His) rs1554888965
NM_004329.3(BMPR1A):c.49A>C (p.Ile17Leu) rs778886055
NM_004329.3(BMPR1A):c.530+7A>G rs1060504908
NM_004329.3(BMPR1A):c.563G>T (p.Arg188Leu) rs749780872
NM_004329.3(BMPR1A):c.771A>T (p.Lys257Asn)
NM_004329.3(BMPR1A):c.968G>A (p.Cys323Tyr) rs187780646
NM_004329.3(BMPR1A):c.969_970insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTTCAGACGTGTGCTCTTCCGATCT (p.Cys323_Ala324insArgSerGluGluArgArgValGlyLysGluPheArgArgValLeuPheArgSer)
NM_004329.3(BMPR1A):c.986G>A (p.Arg329Lys) rs1554891054
NM_004333.6(BRAF):c.1120A>G (p.Ile374Val) rs397507471
NM_004333.6(BRAF):c.1151G>A (p.Arg384Lys)
NM_004333.6(BRAF):c.1189G>A (p.Gly397Ser)
NM_004333.6(BRAF):c.1205C>G (p.Pro402Arg) rs199927105
NM_004333.6(BRAF):c.121C>T (p.Pro41Ser)
NM_004333.6(BRAF):c.1253A>G (p.Lys418Arg)
NM_004333.6(BRAF):c.1256C>T (p.Ser419Phe) rs2129026318
NM_004333.6(BRAF):c.1327_1388dup (p.Gly464fs) rs1800883856
NM_004333.6(BRAF):c.139-16T>C rs1809013029
NM_004333.6(BRAF):c.1441G>A (p.Ala481Thr)
NM_004333.6(BRAF):c.1518-7T>G rs199745091
NM_004333.6(BRAF):c.159G>A (p.Met53Ile) rs2129073763
NM_004333.6(BRAF):c.1861-5A>G rs2128994669
NM_004333.6(BRAF):c.1889A>G (p.Lys630Arg) rs1797604920
NM_004333.6(BRAF):c.2045G>A (p.Arg682Gln) rs1796764011
NM_004333.6(BRAF):c.20G>A (p.Gly7Asp)
NM_004333.6(BRAF):c.2128-16_2128-6del rs749903414
NM_004333.6(BRAF):c.281A>G (p.Gln94Arg) rs1562985576
NM_004333.6(BRAF):c.331G>T (p.Val111Phe) rs1807139980
NM_004333.6(BRAF):c.39G>C (p.Glu13Asp) rs868441785
NM_004333.6(BRAF):c.608+19G>A rs200908826
NM_004333.6(BRAF):c.708C>A (p.Asn236Lys) rs138333692
NM_004333.6(BRAF):c.711+4T>C rs1562969586
NM_004333.6(BRAF):c.826G>C (p.Val276Leu) rs1057518105
NM_004333.6(BRAF):c.858T>G (p.Leu286=) rs758553809
NM_004333.6(BRAF):c.980+13T>C rs1802961360
NM_004341.5(CAD):c.1064A>C (p.Glu355Ala) rs552009857
NM_004341.5(CAD):c.3399+5G>T
NM_004341.5(CAD):c.626T>A (p.Leu209Gln) rs1675230102
NM_004341.5(CAD):c.736C>G (p.Arg246Gly) rs772034961
NM_004360.5(CDH1):c.-2C>T rs1567470707
NM_004360.5(CDH1):c.1115C>A (p.Pro372His) rs1555515760
NM_004360.5(CDH1):c.1115C>T (p.Pro372Leu) rs1555515760
NM_004360.5(CDH1):c.1202C>T (p.Ala401Val) rs150795245
NM_004360.5(CDH1):c.125C>G (p.Pro42Arg) rs876659333
NM_004360.5(CDH1):c.1296C>G (p.Asn432Lys) rs187862045
NM_004360.5(CDH1):c.1320+4T>C rs1567508005
NM_004360.5(CDH1):c.1321-6C>T
NM_004360.5(CDH1):c.1332T>A (p.Phe444Leu) rs1392114487
NM_004360.5(CDH1):c.1420A>G (p.Thr474Ala) rs773858736
NM_004360.5(CDH1):c.1454T>C (p.Ile485Thr) rs587783049
NM_004360.5(CDH1):c.1466C>A (p.Pro489His) rs766713582
NM_004360.5(CDH1):c.1514T>C (p.Ile505Thr) rs1597898186
NM_004360.5(CDH1):c.1565+6T>A rs587780785
NM_004360.5(CDH1):c.1565C>T (p.Thr522Ile) rs863224725
NM_004360.5(CDH1):c.1566-8C>G rs587780114
NM_004360.5(CDH1):c.1566-9C>A rs1555516509
NM_004360.5(CDH1):c.1711+9G>C rs368770384
NM_004360.5(CDH1):c.1772A>G (p.Asn591Ser) rs1555516835
NM_004360.5(CDH1):c.1859C>T (p.Pro620Leu) rs1555516871
NM_004360.5(CDH1):c.1914G>C (p.Trp638Cys) rs1961170989
NM_004360.5(CDH1):c.1949T>C (p.Ile650Thr) rs747235838
NM_004360.5(CDH1):c.1960C>A (p.Pro654Thr) rs2152139271
NM_004360.5(CDH1):c.200C>G (p.Ala67Gly) rs730881660
NM_004360.5(CDH1):c.2080G>A (p.Val694Ile) rs587780118
NM_004360.5(CDH1):c.2101G>A (p.Val701Ile) rs1426734014
NM_004360.5(CDH1):c.2137A>G (p.Ile713Val) rs1289236005
NM_004360.5(CDH1):c.2168T>A (p.Leu723Gln)
NM_004360.5(CDH1):c.2186T>G (p.Leu729Arg)
NM_004360.5(CDH1):c.2227C>G (p.Pro743Ala) rs786203005
NM_004360.5(CDH1):c.2231C>T (p.Pro744Leu) rs1001200905
NM_004360.5(CDH1):c.2243C>G (p.Thr748Ser) rs1555517660
NM_004360.5(CDH1):c.2282_2284del (p.Gly761del) rs878854683
NM_004360.5(CDH1):c.2296-3A>G rs113067020
NM_004360.5(CDH1):c.2333C>T (p.Ala778Val) rs876659951
NM_004360.5(CDH1):c.2343A>G (p.Glu781=) rs587780119
NM_004360.5(CDH1):c.2440-18_2440-10del
NM_004360.5(CDH1):c.2440-6C>T rs139757930
NM_004360.5(CDH1):c.2531G>T (p.Ser844Ile) rs1247754103
NM_004360.5(CDH1):c.2566G>A (p.Asp856Asn) rs2152144092
NM_004360.5(CDH1):c.2624T>G (p.Met875Arg) rs900118000
NM_004360.5(CDH1):c.281C>G (p.Pro94Arg) rs1567501219
NM_004360.5(CDH1):c.286A>T (p.Ile96Phe) rs749306433
NM_004360.5(CDH1):c.442G>A (p.Gly148Ser) rs1567504543
NM_004360.5(CDH1):c.653A>G (p.Glu218Gly) rs878854693
NM_004360.5(CDH1):c.674T>C (p.Ile225Thr) rs786203207
NM_004360.5(CDH1):c.719A>G (p.Asn240Ser) rs587780788
NM_004360.5(CDH1):c.833-9C>G rs878854698
NM_004360.5(CDH1):c.844A>G (p.Met282Val)
NM_004360.5(CDH1):c.946A>G (p.Met316Val) rs761182866
NM_004366.6(CLCN2):c.620C>T (p.Pro207Leu)
NM_004369.4(COL6A3):c.2507G>T (p.Arg836Leu) rs763810209
NM_004369.4(COL6A3):c.2655G>T (p.Lys885Asn)
NM_004369.4(COL6A3):c.3589G>A (p.Val1197Ile) rs748053172
NM_004369.4(COL6A3):c.4010C>G (p.Pro1337Arg)
NM_004369.4(COL6A3):c.4291G>C (p.Glu1431Gln)
NM_004369.4(COL6A3):c.7425C>A (p.Asn2475Lys) rs998223951
NM_004369.4(COL6A3):c.8341A>G (p.Lys2781Glu) rs2076965280
NM_004370.6(COL12A1):c.822G>A (p.Leu274=)
NM_004371.4(COPA):c.1077-6CT[3] rs750537666
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
NM_004380.3(CREBBP):c.2921C>A (p.Thr974Asn)
NM_004380.3(CREBBP):c.3983-8C>T
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
NM_004380.3(CREBBP):c.5962_5979del (p.Met1988_Ser1993del)
NM_004380.3(CREBBP):c.743C>T (p.Pro248Leu)
NM_004385.5(VCAN):c.1292A>G (p.Lys431Arg)
NM_004397.6(DDX6):c.107C>G (p.Thr36Arg)
NM_004397.6(DDX6):c.1186C>T (p.Arg396Ter)
NM_004397.6(DDX6):c.647-13A>G rs2137451978
NM_004397.6(DDX6):c.865-13G>A
NM_004408.4(DNM1):c.1594G>C (p.Gly532Arg)
NM_004408.4(DNM1):c.649C>T (p.Arg217Cys)
NM_004409.5(DMPK):c.171del (p.Ile57fs)
NM_004415.4(DSP):c.146C>T (p.Thr49Ile) rs151153655
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile) rs1759048949
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly) rs758530970
NM_004415.4(DSP):c.2050G>T (p.Gly684Cys) rs1759071281
NM_004415.4(DSP):c.2298-10C>G
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn) rs770105310
NM_004415.4(DSP):c.2631-3C>T rs1041054817
NM_004415.4(DSP):c.2631-3_2631delinsTAGA
NM_004415.4(DSP):c.272C>T (p.Pro91Leu) rs1561679365
NM_004415.4(DSP):c.3492C>G (p.Ile1164Met) rs1561697488
NM_004415.4(DSP):c.3687_3689dup (p.Glu1229dup) rs1561697838
NM_004415.4(DSP):c.3964G>A (p.Asp1322Asn) rs1759376700
NM_004415.4(DSP):c.4232G>A (p.Arg1411Lys)
NM_004415.4(DSP):c.4717G>A (p.Val1573Met) rs370171270
NM_004415.4(DSP):c.598-19C>G
NM_004415.4(DSP):c.6088T>C (p.Ser2030Pro) rs1759514959
NM_004415.4(DSP):c.6160G>T (p.Ala2054Ser) rs1759517531
NM_004415.4(DSP):c.616G>A (p.Ala206Thr) rs794728109
NM_004415.4(DSP):c.940-7T>G rs1368622056
NM_004423.4(DVL3):c.812G>A (p.Arg271His)
NM_004444.5(EPHB4):c.1636G>C (p.Val546Leu)
NM_004446.3(EPRS1):c.3271A>G (p.Lys1091Glu)
NM_004446.3(EPRS1):c.3586G>T (p.Val1196Leu)
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala) rs754418186
NM_004453.4(ETFDH):c.1469G>C (p.Gly490Ala) rs2126316052
NM_004453.4(ETFDH):c.1774T>C (p.Cys592Arg)
NM_004453.4(ETFDH):c.245C>T (p.Ser82Phe)
NM_004453.4(ETFDH):c.405+3A>G rs796051965
NM_004453.4(ETFDH):c.412C>T (p.Leu138Phe)
NM_004453.4(ETFDH):c.485C>T (p.Pro162Leu) rs1773956133
NM_004453.4(ETFDH):c.508G>T (p.Gly170Cys)
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile) rs2150312216
NM_004462.5(FDFT1):c.452G>A (p.Gly151Asp)
NM_004462.5(FDFT1):c.702+1G>T
NM_004462.5(FDFT1):c.87del (p.Lys30fs)
NM_004463.3(FGD1):c.571G>A (p.Asp191Asn) rs1922868484
NM_004493.3(HSD17B10):c.323C>T (p.Thr108Ile)
NM_004493.3(HSD17B10):c.455A>G (p.Asn152Ser) rs2146627999
NM_004519.4(KCNQ3):c.1624G>A (p.Asp542Asn) rs1005759975
NM_004519.4(KCNQ3):c.2139del (p.Phe713fs) rs1554621412
NM_004522.3(KIF5C):c.10C>A (p.Pro4Thr)
NM_004522.3(KIF5C):c.2779C>T (p.Arg927Cys) rs867604993
NM_004522.3(KIF5C):c.820-4A>G
NM_004523.4(KIF11):c.1494+8C>T
NM_004523.4(KIF11):c.308+14T>A
NM_004525.3(LRP2):c.10654T>G (p.Phe3552Val) rs2105284304
NM_004525.3(LRP2):c.3157G>A (p.Asp1053Asn) rs1432929481
NM_004525.3(LRP2):c.4733G>A (p.Arg1578His)
NM_004525.3(LRP2):c.4866G>A (p.Met1622Ile) rs2105375209
NM_004525.3(LRP2):c.770-4dup
NM_004525.3(LRP2):c.8579C>T (p.Thr2860Ile) rs765920078
NM_004531.5(MOCS2):c.377+4T>C
NM_004560.4(ROR2):c.1801G>A (p.Ala601Thr)
NM_004565.3(PEX14):c.76G>A (p.Glu26Lys) rs748746721
NM_004588.5(SCN2B):c.389T>C (p.Met130Thr)
NM_004589.4(SCO1):c.16C>G (p.Leu6Val) rs61753148
NM_004606.5(TAF1):c.247A>C (p.Ser83Arg) rs2032701000
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=) rs2034990430
NM_004606.5(TAF1):c.5399+1_5399+72dup
NM_004606.5(TAF1):c.551G>T (p.Ser184Ile)
NM_004606.5(TAF1):c.614A>T (p.Asp205Val) rs2033530376
NM_004612.4(TGFBR1):c.-69C>A
NM_004612.4(TGFBR1):c.1465A>G (p.Lys489Glu) rs1554702748
NM_004612.4(TGFBR1):c.32G>A (p.Arg11Gln) rs886038980
NM_004612.4(TGFBR1):c.344-9C>T
NM_004612.4(TGFBR1):c.59C>T (p.Ala20Val) rs1333080544
NM_004612.4(TGFBR1):c.806-15_806-7del rs2118776036
NM_004612.4(TGFBR1):c.80_85del (p.Leu27_Leu28del) rs2118166265
NM_004614.5(TK2):c.698T>C (p.Leu233Pro)
NM_004615.4(TSPAN7):c.473A>G (p.Asn158Ser)
NM_004628.5(XPC):c.-1C>T
NM_004628.5(XPC):c.1001C>T (p.Pro334Leu)
NM_004629.2(FANCG):c.1795del (p.Trp599fs)
NM_004629.2(FANCG):c.1852_1853del (p.Lys618fs) rs532302967
NM_004629.2(FANCG):c.686T>C (p.Leu229Pro) rs2131056621
NM_004643.4(PABPN1):c.3GGC[8] (p.Ala11dup) rs193922941
NM_004646.4(NPHS1):c.1154A>G (p.Glu385Gly)
NM_004646.4(NPHS1):c.1570G>A (p.Ala524Thr)
NM_004646.4(NPHS1):c.1726G>T (p.Val576Phe) rs1973129887
NM_004646.4(NPHS1):c.1913A>G (p.Tyr638Cys)
NM_004646.4(NPHS1):c.2746G>T (p.Ala916Ser) rs138173172
NM_004646.4(NPHS1):c.320C>A (p.Ala107Glu) rs386833934
NM_004646.4(NPHS1):c.3274C>T (p.Arg1092Cys)
NM_004646.4(NPHS1):c.3594+2T>C
NM_004646.4(NPHS1):c.3701del (p.Phe1234fs)
NM_004646.4(NPHS1):c.385C>T (p.Leu129Phe)
NM_004655.4(AXIN2):c.1531A>G (p.Thr511Ala) rs376936740
NM_004655.4(AXIN2):c.1927G>T (p.Ala643Ser) rs748005374
NM_004655.4(AXIN2):c.1933C>G (p.Pro645Ala) rs1405864888
NM_004655.4(AXIN2):c.958G>C (p.Asp320His) rs1060502136
NM_004667.6(HERC2):c.11300-15C>G
NM_004667.6(HERC2):c.4582C>T (p.Leu1528Phe) rs780527731
NM_004667.6(HERC2):c.5465-5A>G
NM_004700.4(KCNQ4):c.834+5G>A
NM_004700.4(KCNQ4):c.836T>G (p.Ile279Ser)
NM_004733.4(SLC33A1):c.1117T>G (p.Leu373Val)
NM_004733.4(SLC33A1):c.1425A>G (p.Thr475=)
NM_004733.4(SLC33A1):c.463A>G (p.Met155Val)
NM_004733.4(SLC33A1):c.7C>G (p.Pro3Ala)
NM_004736.4(XPR1):c.1213G>A (p.Val405Met)
NM_004736.4(XPR1):c.2074G>A (p.Asp692Asn)
NM_004744.5(LRAT):c.487C>T (p.His163Tyr) rs1010347467
NM_004750.5(CRLF1):c.1024+2_1024+5dup
NM_004752.4(GCM2):c.764T>G (p.Met255Arg)
NM_004757.4(AIMP1):c.-26+204A>G
NM_004773.4(ZNHIT3):c.255_258del (p.Asp85fs)
NM_004773.4(ZNHIT3):c.302dup (p.Leu101fs) rs763435615
NM_004780.3(TCEAL1):c.84dup (p.Pro29fs)
NM_004793.4(LONP1):c.1026G>C (p.Glu342Asp)
NM_004793.4(LONP1):c.902G>A (p.Arg301Gln)
NM_004807.3(HS6ST1):c.857G>A (p.Arg286Gln)
NM_004813.4(PEX16):c.956_958del (p.Pro319del) rs754790425
NM_004820.5(CYP7B1):c.799A>G (p.Arg267Gly) rs2129630196
NM_004836.7(EIF2AK3):c.3194G>A (p.Arg1065Gln)
NM_004839.4(HOMER2):c.107A>G (p.Tyr36Cys)
NM_004855.5(PIGB):c.-2G>T
NM_004855.5(PIGB):c.1626del (p.Lys543fs)
NM_004859.4(CLTC):c.2562-6dup
NM_004863.4(SPTLC2):c.1544C>T (p.Ala515Val)
NM_004937.3(CTNS):c.140+6T>C
NM_004937.3(CTNS):c.872A>C (p.Tyr291Ser) rs766108462
NM_004937.3(CTNS):c.907C>T (p.Leu303Phe) rs2142981414
NM_004937.3(CTNS):c.970+3G>A
NM_004958.4(MTOR):c.3525C>G (p.Asp1175Glu)
NM_004958.4(MTOR):c.4687-3T>C rs760066667
NM_004958.4(MTOR):c.4998+1G>A
NM_004958.4(MTOR):c.6247_6248insT (p.Glu2083fs) rs1642875607
NM_004958.4(MTOR):c.7017-4A>G
NM_004960.4(FUS):c.1539C>T (p.Ser513=)
NM_004970.3(IGFALS):c.1399C>T (p.Arg467Cys)
NM_004970.3(IGFALS):c.1483dup (p.Glu495fs)
NM_004970.3(IGFALS):c.1678C>T (p.Arg560Cys)
NM_004970.3(IGFALS):c.17-72G>A
NM_004973.4(JARID2):c.2542-8C>A
NM_004975.4(KCNB1):c.1072G>A (p.Asp358Asn)
NM_004975.4(KCNB1):c.2173A>G (p.Ile725Val)
NM_004977.3(KCNC3):c.709G>A (p.Gly237Arg)
NM_004977.3(KCNC3):c.965C>T (p.Thr322Met)
NM_004984.4(KIF5A):c.1163C>A (p.Ala388Asp) rs1882197501
NM_004984.4(KIF5A):c.2960T>C (p.Leu987Ser)
NM_004985.5(KRAS):c.179G>A (p.Gly60Asp)
NM_004985.5(KRAS):c.220A>C (p.Thr74Pro) rs770020203
NM_004985.5(KRAS):c.291-10del rs727503991
NM_004990.4(MARS1):c.1293+5G>A rs1876872609
NM_004990.4(MARS1):c.1321T>C (p.Cys441Arg)
NM_004990.4(MARS1):c.2278A>G (p.Met760Val)
NM_004990.4(MARS1):c.2387G>T (p.Gly796Val)
NM_004990.4(MARS1):c.683T>C (p.Leu228Pro)
NM_004991.4(MECOM):c.972T>G (p.Cys324Trp)
NM_005005.3(NDUFB9):c.409-1G>C
NM_005022.4(PFN1):c.350_351delinsGT (p.Glu117Gly) rs1597686012
NM_005027.4(PIK3R2):c.1216C>G (p.Arg406Gly)
NM_005035.4(POLRMT):c.1783A>C (p.Lys595Gln)
NM_005035.4(POLRMT):c.2386C>G (p.Leu796Val)
NM_005035.4(POLRMT):c.2565G>T (p.Glu855Asp)
NM_005035.4(POLRMT):c.3142C>T (p.Arg1048Trp)
NM_005035.4(POLRMT):c.3389C>G (p.Ser1130Cys)
NM_005035.4(POLRMT):c.3496-5C>T
NM_005045.4(RELN):c.3085A>G (p.Ile1029Val)
NM_005045.4(RELN):c.4748-12A>T rs1830753146
NM_005045.4(RELN):c.48G>T (p.Leu16Phe)
NM_005045.4(RELN):c.6199T>C (p.Ser2067Pro) rs1830401821
NM_005045.4(RELN):c.6575G>C (p.Arg2192Pro) rs1309424440
NM_005045.4(RELN):c.8920G>A (p.Gly2974Ser)
NM_005050.4(ABCD4):c.1779_1780del (p.Cys593fs) rs1566906720
NM_005050.4(ABCD4):c.206G>A (p.Gly69Glu)
NM_005055.5(RAPSN):c.280G>A (p.Glu94Lys)
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr) rs142635726
NM_005055.5(RAPSN):c.624C>G (p.Ser208Arg)
NM_005084.4(PLA2G7):c.1277A>G (p.Asn426Ser)
NM_005084.4(PLA2G7):c.667C>T (p.Arg223Trp)
NM_005085.4(NUP214):c.4522A>G (p.Ser1508Gly) rs967108471
NM_005120.3(MED12):c.1101+8_1101+9insCCTAGGCGGGTACCCTACAGCTACAGGTAGGTACCC
NM_005120.3(MED12):c.1930C>A (p.Pro644Thr) rs950787066
NM_005120.3(MED12):c.2294A>T (p.Asp765Val) rs1243443016
NM_005120.3(MED12):c.2350C>T (p.Arg784Cys) rs2147793341
NM_005120.3(MED12):c.2423-6C>T
NM_005120.3(MED12):c.2941T>A (p.Ser981Thr) rs2147799502
NM_005120.3(MED12):c.33C>A (p.His11Gln)
NM_005138.3(SCO2):c.289G>T (p.Ala97Ser)
NM_005138.3(SCO2):c.773T>C (p.Met258Thr)
NM_005141.5(FGB):c.114+11del rs779228767
NM_005141.5(FGB):c.306+7_306+8delinsAA
NM_005141.5(FGB):c.773A>C (p.Gln258Pro)
NM_005141.5(FGB):c.956C>T (p.Pro319Leu)
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr) rs1566967697
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile) rs1379875828
NM_005159.5(ACTC1):c.809-14del rs1891700511
NM_005159.5(ACTC1):c.809-18del rs1891700805
NM_005159.5(ACTC1):c.809-58TG[33] rs59431308
NM_005188.4(CBL):c.1168G>C (p.Asp390His) rs267606707
NM_005188.4(CBL):c.118C>G (p.His40Asp) rs1949270382
NM_005188.4(CBL):c.1193A>G (p.His398Arg) rs1303812580
NM_005188.4(CBL):c.1298del (p.Pro433fs)
NM_005188.4(CBL):c.1538C>T (p.Ala513Val) rs1949970576
NM_005188.4(CBL):c.1705_1707del (p.Pro569del) rs2135310558
NM_005188.4(CBL):c.1739C>T (p.Pro580Leu)
NM_005188.4(CBL):c.18G>T (p.Lys6Asn)
NM_005188.4(CBL):c.195+12_195+13delinsTT rs1949271281
NM_005188.4(CBL):c.2087A>G (p.Glu696Gly) rs1354142112
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala) rs1229733932
NM_005188.4(CBL):c.2154-8T>C
NM_005188.4(CBL):c.2246C>T (p.Thr749Ile) rs2135320235
NM_005188.4(CBL):c.2279_2346dup (p.Ala783fs) rs1950077753
NM_005188.4(CBL):c.2282_2362dup (p.Arg787_Arg788insHisThrGlyProGluGluSerGluAsnGluAspAspGlyTyrAspValProLysProProValProAlaValLeuAlaArg) rs1950077794
NM_005188.4(CBL):c.2381C>T (p.Ser794Phe) rs201620100
NM_005188.4(CBL):c.2393CCT[1] (p.Ser799del) rs755938138
NM_005188.4(CBL):c.2471C>T (p.Pro824Leu) rs2135322034
NM_005188.4(CBL):c.2509G>A (p.Ala837Thr) rs1950086093
NM_005188.4(CBL):c.2589C>G (p.Asn863Lys) rs397517081
NM_005188.4(CBL):c.2603G>T (p.Gly868Val) rs1950087495
NM_005188.4(CBL):c.2684T>C (p.Phe895Ser)
NM_005188.4(CBL):c.347G>T (p.Arg116Met) rs748412298
NM_005188.4(CBL):c.357G>A (p.Met119Ile) rs1490142046
NM_005188.4(CBL):c.445C>T (p.Arg149Ter) rs267602720
NM_005188.4(CBL):c.590+20A>T
NM_005188.4(CBL):c.747+3A>G rs1592398477
NM_005188.4(CBL):c.747+8A>T
NM_005188.4(CBL):c.791C>T (p.Thr264Ile)
NM_005199.5(CHRNG):c.734TCA[1] (p.Ile246del) rs747062636
NM_005202.4(COL8A2):c.679C>T (p.Pro227Ser)
NM_005215.4(DCC):c.1598A>G (p.Asn533Ser)
NM_005215.4(DCC):c.3448C>T (p.Pro1150Ser)
NM_005215.4(DCC):c.3579G>C (p.Gln1193His)
NM_005215.4(DCC):c.698-17G>T
NM_005219.5(DIAPH1):c.1927C>G (p.Pro643Ala)
NM_005233.6(EPHA3):c.1915C>A (p.Arg639Ser) rs754102338
NM_005235.3(ERBB4):c.197C>T (p.Thr66Ile)
NM_005235.3(ERBB4):c.2371A>G (p.Thr791Ala)
NM_005235.3(ERBB4):c.421G>C (p.Glu141Gln)
NM_005236.3(ERCC4):c.1469G>A (p.Arg490Gln)
NM_005236.3(ERCC4):c.187A>C (p.Asn63His) rs1203098300
NM_005236.3(ERCC4):c.2283T>G (p.Phe761Leu) rs2141620363
NM_005249.5(FOXG1):c.440A>G (p.Lys147Arg)
NM_005262.3(GFER):c.55C>T (p.Pro19Ser)
NM_005269.3(GLI1):c.1077+20G>A
NM_005269.3(GLI1):c.2008G>T (p.Ala670Ser)
NM_005271.5(GLUD1):c.1269G>C (p.Met423Ile)
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr) rs797045597
NM_005321.3(H1-4):c.341G>A (p.Gly114Glu)
NM_005327.7(HADH):c.523G>A (p.Val175Met)
NM_005334.3(HCFC1):c.1520G>A (p.Ser507Asn)
NM_005334.3(HCFC1):c.193+16G>T
NM_005334.3(HCFC1):c.3845C>T (p.Ser1282Leu)
NM_005334.3(HCFC1):c.5287G>A (p.Ala1763Thr)
NM_005334.3(HCFC1):c.5379+8G>A
NM_005343.4(HRAS):c.-2C>A rs757657838
NM_005343.4(HRAS):c.-5G>A rs879083675
NM_005343.4(HRAS):c.112-4G>A rs1589792986
NM_005343.4(HRAS):c.165_166insTCCGGAAGCAGGTGGTCATTGATGGGGAGACGTGCCTGTTGGACATC (p.Leu56fs) rs1851284408
NM_005343.4(HRAS):c.203G>A (p.Arg68Gln) rs730880461
NM_005343.4(HRAS):c.290+10G>A rs769212136
NM_005343.4(HRAS):c.290+1G>C rs1851270546
NM_005343.4(HRAS):c.291-9A>G rs1564789180
NM_005343.4(HRAS):c.450+20C>A rs201524241
NM_005349.4(RBPJ):c.37C>G (p.Pro13Ala)
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.6(SMAD4):c.1140-10del rs763877987
NM_005359.6(SMAD4):c.1140-3A>C rs956212866
NM_005359.6(SMAD4):c.1447+9G>A rs878854766
NM_005359.6(SMAD4):c.1591C>T (p.Arg531Trp) rs766833269
NM_005359.6(SMAD4):c.31A>T (p.Thr11Ser) rs587780791
NM_005359.6(SMAD4):c.457C>G (p.Pro153Ala) rs751763157
NM_005359.6(SMAD4):c.47G>C (p.Cys16Ser) rs1555684993
NM_005359.6(SMAD4):c.788-6T>C rs1909898384
NM_005359.6(SMAD4):c.955+6T>C
NM_005360.5(MAF):c.1050G>A (p.Lys350=)
NM_005360.5(MAF):c.435_440dup (p.Ala148_Ser149insGlyAla)
NM_005360.5(MAF):c.610G>A (p.Gly204Ser)
NM_005373.3(MPL):c.398C>T (p.Pro133Leu)
NM_005373.3(MPL):c.823C>A (p.Pro275Thr) rs28928908
NM_005378.6(MYCN):c.354C>A (p.Ser118Arg)
NM_005391.5(PDK3):c.249-15T>C
NM_005402.4(RALA):c.497A>G (p.Lys166Arg)
NM_005412.6(SHMT2):c.121_122del (p.Arg41fs)
NM_005422.4(TECTA):c.3104A>G (p.Glu1035Gly)
NM_005430.4(WNT1):c.1108C>G (p.Leu370Val)
NM_005445.4(SMC3):c.2635C>T (p.Arg879Ter)
NM_005445.4(SMC3):c.2761G>C (p.Glu921Gln) rs1564795916
NM_005445.4(SMC3):c.3604dup (p.Thr1202fs) rs2134755767
NM_005450.6(NOG):c.509C>G (p.Pro170Arg) rs2052471344
NM_005458.8(GABBR2):c.1363A>G (p.Thr455Ala)
NM_005458.8(GABBR2):c.1544C>T (p.Ser515Leu) rs2131489662
NM_005458.8(GABBR2):c.181C>T (p.Leu61Phe)
NM_005461.5(MAFB):c.452C>T (p.Ala151Val)
NM_005461.5(MAFB):c.565G>A (p.Gly189Arg)
NM_005465.7(AKT3):c.284+2T>G rs1682654244
NM_005476.7(GNE):c.1042C>T (p.His348Tyr)
NM_005476.7(GNE):c.1281G>A (p.Lys427=) rs1554659670
NM_005476.7(GNE):c.1411+5G>A
NM_005476.7(GNE):c.1877A>G (p.His626Arg)
NM_005476.7(GNE):c.211A>T (p.Arg71Trp) rs886044539
NM_005476.7(GNE):c.238G>T (p.Asp80Tyr)
NM_005476.7(GNE):c.317T>C (p.Ile106Thr) rs773920008
NM_005476.7(GNE):c.353C>T (p.Ala118Val)
NM_005476.7(GNE):c.769+3dup rs756817842
NM_005476.7(GNE):c.794T>C (p.Met265Thr) rs2133068813
NM_005477.3(HCN4):c.1963G>A (p.Gly655Ser)
NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser) rs1158677290
NM_005477.3(HCN4):c.514C>T (p.Pro172Ser)
NM_005477.3(HCN4):c.76A>G (p.Met26Val)
NM_005502.4(ABCA1):c.*17G>A
NM_005502.4(ABCA1):c.1040A>G (p.Tyr347Cys)
NM_005502.4(ABCA1):c.1312-16C>T
NM_005502.4(ABCA1):c.1371T>A (p.Asp457Glu)
NM_005502.4(ABCA1):c.1945A>T (p.Ile649Phe)
NM_005502.4(ABCA1):c.2051G>A (p.Ser684Asn)
NM_005502.4(ABCA1):c.2068C>G (p.Leu690Val)
NM_005502.4(ABCA1):c.3104-5dup rs746119307
NM_005502.4(ABCA1):c.3241+5C>T
NM_005502.4(ABCA1):c.3536-6C>T
NM_005502.4(ABCA1):c.357C>A (p.Asp119Glu) rs763744498
NM_005502.4(ABCA1):c.3907A>G (p.Arg1303Gly)
NM_005502.4(ABCA1):c.4099A>G (p.Ile1367Val)
NM_005502.4(ABCA1):c.4295G>A (p.Gly1432Glu)
NM_005502.4(ABCA1):c.4464+12T>C
NM_005502.4(ABCA1):c.4559+12C>T
NM_005502.4(ABCA1):c.4640C>T (p.Pro1547Leu)
NM_005502.4(ABCA1):c.4808G>C (p.Ser1603Thr) rs1030058509
NM_005502.4(ABCA1):c.5121+14C>T
NM_005502.4(ABCA1):c.5146C>G (p.Leu1716Val) rs1829900481
NM_005502.4(ABCA1):c.5374A>G (p.Thr1792Ala) rs1176498235
NM_005502.4(ABCA1):c.5782G>T (p.Ala1928Ser)
NM_005502.4(ABCA1):c.6068A>C (p.Lys2023Thr)
NM_005502.4(ABCA1):c.6292G>A (p.Val2098Met)
NM_005502.4(ABCA1):c.6309-18C>T
NM_005502.4(ABCA1):c.6309-4G>A rs199562704
NM_005502.4(ABCA1):c.721-10del
NM_005502.4(ABCA1):c.886T>A (p.Ser296Thr)
NM_005535.3(IL12RB1):c.1217G>A (p.Gly406Glu) rs199504990
NM_005559.4(LAMA1):c.1873G>A (p.Gly625Ser)
NM_005559.4(LAMA1):c.2058G>T (p.Glu686Asp)
NM_005559.4(LAMA1):c.3319G>C (p.Gly1107Arg)
NM_005559.4(LAMA1):c.4025T>C (p.Val1342Ala)
NM_005559.4(LAMA1):c.4884C>A (p.Asn1628Lys)
NM_005559.4(LAMA1):c.768+5G>A
NM_005559.4(LAMA1):c.7779-13A>G
NM_005559.4(LAMA1):c.7970T>C (p.Leu2657Ser)
NM_005559.4(LAMA1):c.8711-17C>G
NM_005560.6(LAMA5):c.8356G>A (p.Gly2786Ser) rs1986721762
NM_005560.6(LAMA5):c.8822C>T (p.Thr2941Met)
NM_005560.6(LAMA5):c.9967G>T (p.Ala3323Ser)
NM_005562.3(LAMC2):c.1468+5G>A
NM_005565.5(LCP2):c.928C>T (p.His310Tyr)
NM_005573.4(LMNB1):c.1160+6G>A
NM_005573.4(LMNB1):c.43G>A (p.Ala15Thr)
NM_005573.4(LMNB1):c.506A>G (p.Gln169Arg)
NM_005585.5(SMAD6):c.1419dup (p.Pro474fs) rs1894573824
NM_005585.5(SMAD6):c.710A>G (p.His237Arg)
NM_005585.5(SMAD6):c.79_84del (p.Ser27_Gly28del) rs769605183
NM_005591.4(MRE11):c.1151A>T (p.Lys384Ile) rs1193534253
NM_005591.4(MRE11):c.1811G>A (p.Arg604His) rs148637964
NM_005591.4(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005591.4(MRE11):c.2021T>A (p.Ile674Asn) rs1591633964
NM_005591.4(MRE11):c.314+6T>C rs864622413
NM_005591.4(MRE11):c.402+7_402+9del
NM_005591.4(MRE11):c.52_54del (p.Ala18del) rs876658216
NM_005591.4(MRE11):c.562A>G (p.Arg188Gly) rs1946857150
NM_005591.4(MRE11):c.660-7G>T rs761857022
NM_005591.4(MRE11):c.986C>G (p.Thr329Ser) rs370645480
NM_005592.4(MUSK):c.1235T>C (p.Val412Ala)
NM_005609.4(PYGM):c.1058T>A (p.Ile353Asn)
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile) rs1555134900
NM_005609.4(PYGM):c.1624A>G (p.Asn542Asp) rs2135830822
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys) rs1413461008
NM_005609.4(PYGM):c.2038A>G (p.Met680Val)
NM_005609.4(PYGM):c.2312+19G>A
NM_005609.4(PYGM):c.244-19C>T
NM_005612.5(REST):c.613A>C (p.Thr205Pro)
NM_005618.4(DLL1):c.1085T>G (p.Ile362Ser)
NM_005618.4(DLL1):c.515A>G (p.Lys172Arg)
NM_005619.5(RTN2):c.1381-5C>T
NM_005629.4(SLC6A8):c.115G>A (p.Gly39Ser)
NM_005629.4(SLC6A8):c.645-19A>G rs2148361615
NM_005629.4(SLC6A8):c.912+6G>C
NM_005633.4(SOS1):c.1063G>A (p.Glu355Lys) rs1670303340
NM_005633.4(SOS1):c.1199T>G (p.Leu400Arg)
NM_005633.4(SOS1):c.1251_1347dup (p.Leu450delinsSerAsnGlnGluAspGluArgAspSerGluGluTyrTer) rs1669848601
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.4(SOS1):c.1271_1345dup (p.Gly448_Thr449insLysIleGlnLysAsnIleAspGlyTrpGluGlyLysAspIleGlyGlnCysCysAsnGluPheIleMetGluGly) rs1669848769
NM_005633.4(SOS1):c.1288G>A (p.Asp430Asn)
NM_005633.4(SOS1):c.1370A>G (p.His457Arg) rs1060503524
NM_005633.4(SOS1):c.1391T>C (p.Phe464Ser)
NM_005633.4(SOS1):c.1412G>T (p.Cys471Phe)
NM_005633.4(SOS1):c.1454A>G (p.Asn485Ser) rs140671910
NM_005633.4(SOS1):c.1499A>C (p.Gln500Pro) rs2124537167
NM_005633.4(SOS1):c.1600A>G (p.Lys534Glu) rs1669840891
NM_005633.4(SOS1):c.1646C>A (p.Thr549Lys) rs730881046
NM_005633.4(SOS1):c.1690G>A (p.Glu564Lys) rs1386900583
NM_005633.4(SOS1):c.1759A>G (p.Ile587Val)
NM_005633.4(SOS1):c.1867T>G (p.Phe623Val) rs727505093
NM_005633.4(SOS1):c.1940+18A>T rs1669577494
NM_005633.4(SOS1):c.1954G>C (p.Glu652Gln) rs1408868952
NM_005633.4(SOS1):c.2045T>C (p.Ile682Thr)
NM_005633.4(SOS1):c.2057A>G (p.Gln686Arg)
NM_005633.4(SOS1):c.214-12C>T rs2124610999
NM_005633.4(SOS1):c.2168G>T (p.Gly723Val)
NM_005633.4(SOS1):c.2180A>G (p.Lys727Arg) rs1669496540
NM_005633.4(SOS1):c.2188G>T (p.Val730Phe) rs1558469016
NM_005633.4(SOS1):c.2227G>A (p.Ala743Thr)
NM_005633.4(SOS1):c.2265_2355dup (p.Arg786delinsGluPheThrSerHisSerTer) rs1669491885
NM_005633.4(SOS1):c.2405C>T (p.Ser802Leu)
NM_005633.4(SOS1):c.2490C>A (p.Asn830Lys) rs730881029
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.2788T>A (p.Phe930Ile) rs1558465734
NM_005633.4(SOS1):c.2791+19A>C
NM_005633.4(SOS1):c.2791+7_2791+10del rs760707217
NM_005633.4(SOS1):c.2792-4C>G
NM_005633.4(SOS1):c.2864_2944dup (p.Leu955_Leu981dup) rs1668926020
NM_005633.4(SOS1):c.3256C>T (p.Pro1086Ser) rs1057517892
NM_005633.4(SOS1):c.3319T>G (p.Ser1107Ala)
NM_005633.4(SOS1):c.3391+3_3391+6del rs756201866
NM_005633.4(SOS1):c.3406T>A (p.Ser1136Thr) rs2124458840
NM_005633.4(SOS1):c.3415A>G (p.Ser1139Gly) rs1668593642
NM_005633.4(SOS1):c.348G>A (p.Glu116=) rs1671231096
NM_005633.4(SOS1):c.34A>G (p.Ser12Gly)
NM_005633.4(SOS1):c.3580C>T (p.Pro1194Ser)
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp) rs752395541
NM_005633.4(SOS1):c.3696T>G (p.His1232Gln)
NM_005633.4(SOS1):c.38_46del (p.Glu13_Asn15del)
NM_005633.4(SOS1):c.440A>T (p.Asn147Ile)
NM_005633.4(SOS1):c.670A>G (p.Lys224Glu) rs889231089
NM_005633.4(SOS1):c.743G>A (p.Arg248His)
NM_005633.4(SOS1):c.788T>C (p.Ile263Thr) rs1310500908
NM_005633.4(SOS1):c.87+6G>T rs777383378
NM_005634.3(SOX3):c.292G>A (p.Gly98Ser)
NM_005660.3(SLC35A2):c.1163+54del
NM_005685.4(GTF2IRD1):c.646G>T (p.Glu216Ter)
NM_005732.4(RAD50):c.1287A>G (p.Ile429Met) rs1554098314
NM_005732.4(RAD50):c.1794-9T>C rs1060504397
NM_005732.4(RAD50):c.1930A>G (p.Arg644Gly) rs876659631
NM_005732.4(RAD50):c.2693T>G (p.Val898Gly) rs1750958706
NM_005732.4(RAD50):c.2829+7T>C
NM_005732.4(RAD50):c.3390-10C>T rs1751595393
NM_005732.4(RAD50):c.3390-5T>C rs1561658734
NM_005732.4(RAD50):c.3841_3859del (p.Glu1281fs) rs1561661862
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys) rs753136372
NM_005732.4(RAD50):c.677A>C (p.Gln226Pro) rs1060501953
NM_005732.4(RAD50):c.699G>T (p.Gln233His) rs755911947
NM_005732.4(RAD50):c.973T>C (p.Cys325Arg) rs863224744
NM_005739.4(RASGRP1):c.3G>A (p.Met1Ile) rs1269034575
NM_005751.5(AKAP9):c.10931T>C (p.Ile3644Thr) rs367598698
NM_005751.5(AKAP9):c.11098-5T>C
NM_005751.5(AKAP9):c.11546+19C>T rs1818692330
NM_005751.5(AKAP9):c.3291_3294del (p.Lys1097fs)
NM_005751.5(AKAP9):c.3493C>T (p.His1165Tyr)
NM_005751.5(AKAP9):c.3709A>G (p.Asn1237Asp) rs1177942191
NM_005751.5(AKAP9):c.4528T>G (p.Phe1510Val) rs1206384770
NM_005751.5(AKAP9):c.4665A>C (p.Lys1555Asn) rs1805572997
NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del) rs771190405
NM_005751.5(AKAP9):c.6330+4A>G rs1460275329
NM_005751.5(AKAP9):c.6455G>A (p.Arg2152Lys)
NM_005751.5(AKAP9):c.6893A>G (p.Asn2298Ser) rs1812855960
NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn) rs150968594
NM_005751.5(AKAP9):c.7811T>C (p.Leu2604Ser) rs1563104824
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del) rs786205262
NM_005765.3(ATP6AP2):c.-70C>T rs2146534430
NM_005787.6(ALG3):c.211T>C (p.Trp71Arg) rs119103237
NM_005802.5(TOPORS):c.29C>A (p.Pro10Gln) rs777171069
NM_005811.5(GDF11):c.379G>A (p.Glu127Lys)
NM_005816.5(CD96):c.706G>A (p.Gly236Ser)
NM_005850.5(SF3B4):c.400C>T (p.Arg134Trp)
NM_005859.5(PURA):c.102_119del (p.Gly37_Gly42del) rs1184201512
NM_005861.4(STUB1):c.143G>A (p.Cys48Tyr)
NM_005861.4(STUB1):c.535G>A (p.Glu179Lys)
NM_005862.3(STAG1):c.1067G>C (p.Ser356Thr) rs140171002
NM_005862.3(STAG1):c.1918T>C (p.Tyr640His)
NM_005862.3(STAG1):c.2371-8T>C
NM_005862.3(STAG1):c.2423C>T (p.Thr808Ile)
NM_005862.3(STAG1):c.776T>C (p.Ile259Thr)
NM_005883.3(APC2):c.1760A>G (p.Tyr587Cys)
NM_005883.3(APC2):c.2383G>A (p.Glu795Lys)
NM_005883.3(APC2):c.3035G>A (p.Gly1012Asp)
NM_005883.3(APC2):c.4076C>T (p.Ala1359Val)
NM_005883.3(APC2):c.4163C>T (p.Ser1388Phe)
NM_005883.3(APC2):c.6551G>C (p.Arg2184Pro)
NM_005883.3(APC2):c.93C>G (p.Asp31Glu)
NM_005898.5(CAPRIN1):c.989A>G (p.Gln330Arg)
NM_005901.6(SMAD2):c.1135+6G>C
NM_005902.4(SMAD3):c.1124G>T (p.Ser375Ile)
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.850G>C (p.Glu284Gln) rs886038991
NM_005902.4(SMAD3):c.908T>A (p.Val303Asp) rs1555414011
NM_005902.4(SMAD3):c.967C>T (p.Arg323Cys) rs967072552
NM_005908.4(MANBA):c.2175dup (p.Ser726fs) rs771465504
NM_005908.4(MANBA):c.2221A>G (p.Met741Val) rs1418716363
NM_005908.4(MANBA):c.2483_2486del (p.Val828fs)
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs) rs749997217
NM_005909.5(MAP1B):c.1573G>A (p.Val525Met)
NM_005909.5(MAP1B):c.1844C>T (p.Pro615Leu)
NM_005909.5(MAP1B):c.3745G>A (p.Glu1249Lys)
NM_005911.6(MAT2A):c.405+20G>A
NM_005932.4(MIPEP):c.890G>T (p.Gly297Val)
NM_005956.4(MTHFD1):c.240+6C>A
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) rs769381688
NM_005957.5(MTHFR):c.643_645del (p.Lys215del) rs746353274
NM_005981.5(TSPAN31):c.*2217A>G rs1565805871
NM_005981.5(TSPAN31):c.*2222G>T rs536249985
NM_005984.5(SLC25A1):c.190T>G (p.Tyr64Asp) rs2084000148
NM_005993.5(TBCD):c.1126G>A (p.Val376Met) rs183349235
NM_005993.5(TBCD):c.3212T>G (p.Leu1071Trp) rs2062710977
NM_005994.4(TBX2):c.131C>A (p.Pro44Gln)
NM_005994.4(TBX2):c.1966C>T (p.Pro656Ser)
NM_005996.4(TBX3):c.1616C>A (p.Thr539Lys) rs757023811
NM_006000.3(TUBA4A):c.1243G>A (p.Glu415Lys)
NM_006005.3(WFS1):c.1381_1383del (p.Thr461del)
NM_006005.3(WFS1):c.1630T>A (p.Ser544Thr)
NM_006005.3(WFS1):c.2098T>A (p.Trp700Arg)
NM_006009.4(TUBA1A):c.1193T>G (p.Met398Arg) rs1942164218
NM_006012.4(CLPP):c.533A>G (p.His178Arg)
NM_006015.6(ARID1A):c.1357C>T (p.Pro453Ser)
NM_006015.6(ARID1A):c.249CGG[5] (p.Gly87_Ala88insGly)
NM_006015.6(ARID1A):c.4078A>G (p.Thr1360Ala) rs375202405
NM_006015.6(ARID1A):c.4894C>G (p.Pro1632Ala)
NM_006015.6(ARID1A):c.943G>A (p.Asp315Asn) rs2080280611
NM_006016.6(CD164):c.-12G>A
NM_006030.4(CACNA2D2):c.3203C>T (p.Thr1068Met) rs772333671
NM_006035.4(CDC42BPB):c.1539C>G (p.Asp513Glu)
NM_006035.4(CDC42BPB):c.3310-5C>T
NM_006035.4(CDC42BPB):c.5083dup (p.His1695fs)
NM_006059.4(LAMC3):c.1018C>T (p.Arg340Trp) rs146887458
NM_006073.4(TRDN):c.185C>T (p.Ala62Val)
NM_006073.4(TRDN):c.196G>A (p.Val66Ile) rs372169818
NM_006078.5(CACNG2):c.815C>T (p.Thr272Met) rs759983832
NM_006079.5(CITED2):c.28C>T (p.His10Tyr)
NM_006086.4(TUBB3):c.1267C>T (p.Gln423Ter) rs2151093129
NM_006086.4(TUBB3):c.1321G>A (p.Glu441Lys)
NM_006086.4(TUBB3):c.467G>A (p.Arg156His)
NM_006086.4(TUBB3):c.95C>G (p.Pro32Arg)
NM_006087.4(TUBB4A):c.523G>A (p.Val175Met)
NM_006087.4(TUBB4A):c.900G>A (p.Met300Ile)
NM_006096.4(NDRG1):c.964C>T (p.Arg322Cys) rs368404338
NM_006129.5(BMP1):c.1757G>A (p.Arg586His)
NM_006129.5(BMP1):c.2350C>G (p.Arg784Gly) rs202128760
NM_006147.4(IRF6):c.632A>C (p.Tyr211Ser)
NM_006164.5(NFE2L2):c.1193A>C (p.His398Pro)
NM_006164.5(NFE2L2):c.941A>G (p.Asn314Ser)
NM_006172.4(NPPA):c.217G>A (p.Ala73Thr)
NM_006180.6(NTRK2):c.208G>A (p.Glu70Lys)
NM_006182.4(DDR2):c.1421T>C (p.Ile474Thr)
NM_006182.4(DDR2):c.779G>A (p.Arg260Gln)
NM_006186.4(NR4A2):c.1159-3C>T
NM_006214.4(PHYH):c.668C>G (p.Pro223Arg)
NM_006214.4(PHYH):c.973A>G (p.Met325Val) rs145020360
NM_006218.4(PIK3CA):c.1059+8C>T
NM_006218.4(PIK3CA):c.317G>A (p.Gly106Asp) rs1057519930
NM_006231.4(POLE):c.1016A>T (p.Asp339Val) rs1060500865
NM_006231.4(POLE):c.1231G>C (p.Val411Leu) rs1057519945
NM_006231.4(POLE):c.1231G>T (p.Val411Leu) rs1057519945
NM_006231.4(POLE):c.1306C>T (p.Pro436Ser) rs1565973210
NM_006231.4(POLE):c.1354C>A (p.Pro452Thr) rs1555228573
NM_006231.4(POLE):c.1858C>T (p.Pro620Ser) rs979085449
NM_006231.4(POLE):c.1924-23_1927del rs1064795679
NM_006231.4(POLE):c.2236A>G (p.Ile746Val) rs1480527153
NM_006231.4(POLE):c.2935C>A (p.Leu979Met)
NM_006231.4(POLE):c.4157G>A (p.Arg1386Gln) rs969355093
NM_006231.4(POLE):c.423+82A>G
NM_006231.4(POLE):c.4249G>C (p.Glu1417Gln) rs1593735965
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly) rs766511597
NM_006231.4(POLE):c.4529_4530inv (p.Ala1510Val)
NM_006231.4(POLE):c.5354C>T (p.Thr1785Ile) rs1269441689
NM_006231.4(POLE):c.5590A>T (p.Ile1864Phe) rs2042070838
NM_006231.4(POLE):c.5972C>G (p.Ser1991Cys) rs1593711899
NM_006231.4(POLE):c.62+5G>C rs1037695225
NM_006231.4(POLE):c.6208A>G (p.Ile2070Val) rs763607284
NM_006231.4(POLE):c.6518_6519del (p.Ser2173fs) rs774417192
NM_006245.4(PPP2R5D):c.1718C>T (p.Ser573Leu)
NM_006245.4(PPP2R5D):c.278A>T (p.Asn93Ile)
NM_006265.3(RAD21):c.1252A>C (p.Lys418Gln) rs1812375108
NM_006267.5(RANBP2):c.1282C>T (p.Arg428Ter)
NM_006267.5(RANBP2):c.3387T>G (p.Asp1129Glu) rs142454773
NM_006267.5(RANBP2):c.737C>G (p.Thr246Arg) rs770986482
NM_006267.5(RANBP2):c.7625G>T (p.Gly2542Val) rs1677244353
NM_006270.5(RRAS):c.*5G>A
NM_006270.5(RRAS):c.344+6del rs1482812198
NM_006270.5(RRAS):c.345-2A>C rs2080998112
NM_006270.5(RRAS):c.355G>A (p.Val119Met)
NM_006270.5(RRAS):c.423del (p.Asn142fs) rs775018539
NM_006270.5(RRAS):c.571C>T (p.Arg191Trp)
NM_006270.5(RRAS):c.572G>A (p.Arg191Gln) rs759803129
NM_006280.3(SSR4):c.257A>T (p.Tyr86Phe)
NM_006280.3(SSR4):c.480C>G (p.Ile160Met)
NM_006295.3(VARS1):c.2169G>C (p.Arg723Ser)
NM_006306.4(SMC1A):c.88A>G (p.Ile30Val)
NM_006329.4(FBLN5):c.1226C>T (p.Pro409Leu)
NM_006348.5(COG5):c.1686G>T (p.Lys562Asn)
NM_006361.6(HOXB13):c.853del (p.Ter285LysextTer?) rs77179853
NM_006361.6(HOXB13):c.86C>T (p.Ala29Val)
NM_006363.6(SEC23B):c.1254T>G (p.Ile418Met)
NM_006390.4(IPO8):c.1756-5C>G
NM_006393.3(NEBL):c.1037del (p.Asn346fs) rs767349615
NM_006393.3(NEBL):c.136A>G (p.Thr46Ala) rs751607557
NM_006397.3(RNASEH2A):c.322C>G (p.Arg108Gly) rs76436818
NM_006412.4(AGPAT2):c.835T>C (p.Ter279Gln)
NM_006415.4(SPTLC1):c.1082-7delinsAT
NM_006415.4(SPTLC1):c.690+1G>A
NM_006421.5(ARFGEF1):c.1031T>C (p.Met344Thr)
NM_006421.5(ARFGEF1):c.1303A>G (p.Met435Val)
NM_006421.5(ARFGEF1):c.1338-20_1338-18dup
NM_006421.5(ARFGEF1):c.3212G>A (p.Gly1071Glu)
NM_006496.4(GNAI3):c.986C>T (p.Thr329Met) rs1316507687
NM_006502.3(POLH):c.1234C>A (p.Gln412Lys)
NM_006502.3(POLH):c.1833del (p.Lys611fs)
NM_006502.3(POLH):c.490+3A>G
NM_006506.5(RASA2):c.-15G>T rs767937276
NM_006506.5(RASA2):c.1116T>A (p.Asp372Glu) rs2082919565
NM_006506.5(RASA2):c.1126C>T (p.Pro376Ser)
NM_006506.5(RASA2):c.1170-8T>C
NM_006506.5(RASA2):c.133+9G>A rs1353085625
NM_006506.5(RASA2):c.1382_1479dup (p.Pro494delinsThrSerTyrSerIleGlnLeuTer) rs2082966552
NM_006506.5(RASA2):c.1484-4G>A
NM_006506.5(RASA2):c.1577G>A (p.Arg526Gln)
NM_006506.5(RASA2):c.1580C>T (p.Pro527Leu) rs2083025042
NM_006506.5(RASA2):c.1660C>G (p.Leu554Val)
NM_006506.5(RASA2):c.1675-7T>G rs2107770441
NM_006506.5(RASA2):c.1751_1752+2delinsGGG
NM_006506.5(RASA2):c.1751del (p.Lys584fs)
NM_006506.5(RASA2):c.1752+2T>G
NM_006506.5(RASA2):c.2020_2021insAT (p.Phe674fs) rs2107801496
NM_006506.5(RASA2):c.2129G>A (p.Arg710Lys) rs2083586079
NM_006506.5(RASA2):c.2226-39_2226-17dup rs2083600348
NM_006506.5(RASA2):c.2230G>T (p.Val744Phe) rs1463774211
NM_006506.5(RASA2):c.2330-13C>T
NM_006506.5(RASA2):c.2330-2A>G
NM_006506.5(RASA2):c.248T>G (p.Leu83Ter)
NM_006506.5(RASA2):c.2519+18T>G rs2083613884
NM_006506.5(RASA2):c.2546C>T (p.Ser849Phe)
NM_006506.5(RASA2):c.286C>A (p.Pro96Thr) rs761761007
NM_006506.5(RASA2):c.299A>G (p.Gln100Arg) rs1235489668
NM_006506.5(RASA2):c.374A>G (p.Lys125Arg)
NM_006506.5(RASA2):c.374_443dup (p.Glu148_Val149insArgArgLeuValTer) rs2082232970
NM_006506.5(RASA2):c.48del (p.Ala17fs)
NM_006506.5(RASA2):c.49del (p.Ala17fs)
NM_006506.5(RASA2):c.610A>G (p.Arg204Gly)
NM_006506.5(RASA2):c.684+15dup rs769572165
NM_006506.5(RASA2):c.932_934del (p.Leu311_Asn312delinsTyr) rs2082909407
NM_006514.4(SCN10A):c.1977T>G (p.Phe659Leu) rs1346592471
NM_006514.4(SCN10A):c.5488A>G (p.Met1830Val) rs1253727199
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
NM_006516.4(SLC2A1):c.1261T>C (p.Cys421Arg) rs1557644984
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=) rs202060209
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys) rs1165759782
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met) rs780528770
NM_006517.5(SLC16A2):c.334G>C (p.Gly112Arg) rs1928309226
NM_006545.5(NPRL2):c.101G>A (p.Arg34Gln)
NM_006545.5(NPRL2):c.640G>C (p.Asp214His)
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile) rs1597718106
NM_006565.4(CTCF):c.1369C>G (p.Arg457Gly)
NM_006565.4(CTCF):c.523G>A (p.Val175Met)
NM_006618.5(KDM5B):c.1822-3C>T
NM_006623.4(PHGDH):c.1538C>T (p.Ser513Phe)
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006642.5(SDCCAG8):c.2071_2072del (p.Arg691fs)
NM_006642.5(SDCCAG8):c.2138_*5delinsTCACA (p.Cys713fs) rs2148331600
NM_006642.5(SDCCAG8):c.257A>T (p.Asp86Val) rs2149264026
NM_006642.5(SDCCAG8):c.740+301G>A
NM_006659.4(TUBGCP2):c.1542-2A>G
NM_006659.4(TUBGCP2):c.824+1G>C
NM_006662.3(SRCAP):c.2221C>T (p.Arg741Cys)
NM_006662.3(SRCAP):c.3248C>G (p.Pro1083Arg) rs1288652197
NM_006662.3(SRCAP):c.3991C>A (p.Pro1331Thr)
NM_006662.3(SRCAP):c.4055G>A (p.Arg1352Gln)
NM_006662.3(SRCAP):c.4082C>T (p.Ala1361Val)
NM_006662.3(SRCAP):c.5677C>T (p.Arg1893Trp)
NM_006662.3(SRCAP):c.6297+17C>T
NM_006662.3(SRCAP):c.7409C>T (p.Ala2470Val)
NM_006662.3(SRCAP):c.7520C>T (p.Pro2507Leu) rs2053173193
NM_006662.3(SRCAP):c.8222C>T (p.Pro2741Leu)
NM_006662.3(SRCAP):c.9563G>A (p.Arg3188His)
NM_006715.4(MAN2C1):c.768del (p.His258fs)
NM_006734.4(HIVEP2):c.2202G>A (p.Met734Ile)
NM_006734.4(HIVEP2):c.2270G>A (p.Arg757His)
NM_006734.4(HIVEP2):c.227T>C (p.Val76Ala) rs2114665769
NM_006734.4(HIVEP2):c.3343C>T (p.Leu1115Phe) rs1179177419
NM_006734.4(HIVEP2):c.3569T>G (p.Phe1190Cys)
NM_006734.4(HIVEP2):c.4502C>A (p.Ala1501Asp)
NM_006734.4(HIVEP2):c.4910A>G (p.Gln1637Arg)
NM_006734.4(HIVEP2):c.5060C>A (p.Thr1687Asn)
NM_006734.4(HIVEP2):c.5620+9G>T
NM_006734.4(HIVEP2):c.6004T>G (p.Phe2002Val)
NM_006766.5(KAT6A):c.2849A>G (p.Gln950Arg)
NM_006766.5(KAT6A):c.2968_2969delinsAT (p.Glu990Met)
NM_006766.5(KAT6A):c.3053A>T (p.His1018Leu)
NM_006766.5(KAT6A):c.4669G>A (p.Glu1557Lys)
NM_006766.5(KAT6A):c.4673G>A (p.Ser1558Asn)
NM_006766.5(KAT6A):c.4847G>C (p.Cys1616Ser)
NM_006766.5(KAT6A):c.795C>G (p.Cys265Trp) rs1194154094
NM_006767.4(LZTR1):c.1175C>A (p.Ala392Glu)
NM_006767.4(LZTR1):c.11dup (p.Ser6fs) rs1369717076
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1339T>G (p.Phe447Val) rs1312334046
NM_006767.4(LZTR1):c.1341C>A (p.Phe447Leu) rs201016956
NM_006767.4(LZTR1):c.1373G>C (p.Gly458Ala)
NM_006767.4(LZTR1):c.1379T>C (p.Val460Ala) rs982153864
NM_006767.4(LZTR1):c.1468G>A (p.Ala490Thr)
NM_006767.4(LZTR1):c.1496_1590dup (p.Asp531fs) rs1924717764
NM_006767.4(LZTR1):c.1513C>T (p.Arg505Trp) rs770974858
NM_006767.4(LZTR1):c.1561T>G (p.Phe521Val) rs1924722057
NM_006767.4(LZTR1):c.160T>G (p.Trp54Gly)
NM_006767.4(LZTR1):c.1674G>C (p.Gln558His)
NM_006767.4(LZTR1):c.1735_1785+8dup rs1924758509
NM_006767.4(LZTR1):c.1753_1754del (p.Ser585fs)
NM_006767.4(LZTR1):c.1764_1785+8dup rs1924760583
NM_006767.4(LZTR1):c.1785G>A (p.Lys595=)
NM_006767.4(LZTR1):c.1835T>A (p.Ile612Asn)
NM_006767.4(LZTR1):c.1862C>T (p.Ser621Phe) rs1389937904
NM_006767.4(LZTR1):c.1958A>G (p.Gln653Arg)
NM_006767.4(LZTR1):c.200G>C (p.Arg67Pro)
NM_006767.4(LZTR1):c.2070-15G>A rs1601722962
NM_006767.4(LZTR1):c.211C>T (p.His71Tyr) rs1438837277
NM_006767.4(LZTR1):c.2134G>C (p.Glu712Gln) rs1409419929
NM_006767.4(LZTR1):c.2258del (p.Asn753fs)
NM_006767.4(LZTR1):c.2406+15C>T rs1350762782
NM_006767.4(LZTR1):c.2407-20C>A rs1924894264
NM_006767.4(LZTR1):c.2440_2444dup (p.Gln815fs) rs1467667029
NM_006767.4(LZTR1):c.2457CAT[1] (p.Ile821del)
NM_006767.4(LZTR1):c.2468C>T (p.Ser823Phe)
NM_006767.4(LZTR1):c.250G>C (p.Gly84Arg) rs774010552
NM_006767.4(LZTR1):c.320+13G>C
NM_006767.4(LZTR1):c.320+1G>A rs943939913
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
NM_006767.4(LZTR1):c.352del (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.368C>T (p.Ala123Val)
NM_006767.4(LZTR1):c.370GTC[1] (p.Val125del) rs755783378
NM_006767.4(LZTR1):c.373G>C (p.Val125Leu)
NM_006767.4(LZTR1):c.400+1G>C rs1555927561
NM_006767.4(LZTR1):c.401-15A>C rs1924457413
NM_006767.4(LZTR1):c.401-1G>C rs747225246
NM_006767.4(LZTR1):c.428A>G (p.Asn143Ser)
NM_006767.4(LZTR1):c.436T>G (p.Leu146Val) rs1555927611
NM_006767.4(LZTR1):c.44C>T (p.Ala15Val) rs2147956758
NM_006767.4(LZTR1):c.510-60_530dup rs1924491968
NM_006767.4(LZTR1):c.524G>T (p.Arg175Met) rs1924495083
NM_006767.4(LZTR1):c.578A>G (p.Tyr193Cys) rs1870169267
NM_006767.4(LZTR1):c.584G>A (p.Gly195Asp) rs777756228
NM_006767.4(LZTR1):c.594-105_594-14dup rs1924518604
NM_006767.4(LZTR1):c.652-12C>G rs1924560781
NM_006767.4(LZTR1):c.686G>C (p.Cys229Ser) rs2147964025
NM_006767.4(LZTR1):c.714_783dup (p.Asp262delinsGlnAspValCysIleLeuTrpAlaLysArgSerGlnAsnAsnGlnGlnProLeuProValTer) rs1924566447
NM_006767.4(LZTR1):c.727T>C (p.Phe243Leu) rs2147964079
NM_006767.4(LZTR1):c.824_921dup (p.Pro308fs) rs1924610101
NM_006767.4(LZTR1):c.851G>A (p.Arg284His) rs768361273
NM_006767.4(LZTR1):c.901G>C (p.Gly301Arg)
NM_006772.3(SYNGAP1):c.1559C>T (p.Ser520Phe)
NM_006772.3(SYNGAP1):c.2336+7G>A
NM_006772.3(SYNGAP1):c.2835T>A (p.His945Gln)
NM_006772.3(SYNGAP1):c.3002T>C (p.Leu1001Pro)
NM_006772.3(SYNGAP1):c.387+8G>A
NM_006772.3(SYNGAP1):c.958G>A (p.Val320Ile)
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
NM_006790.3(MYOT):c.1336del (p.Gln446fs)
NM_006790.3(MYOT):c.956G>A (p.Gly319Glu) rs1330407694
NM_006796.3(AFG3L2):c.1040C>G (p.Thr347Ser) rs1191222406
NM_006796.3(AFG3L2):c.1780-9A>C
NM_006796.3(AFG3L2):c.1838A>C (p.Gln613Pro)
NM_006796.3(AFG3L2):c.2062C>G (p.Pro688Ala) rs797045221
NM_006796.3(AFG3L2):c.2140G>A (p.Ala714Thr)
NM_006796.3(AFG3L2):c.2372C>T (p.Pro791Leu)
NM_006852.6(TLK2):c.1859+16C>T
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) rs150736372
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_006901.4(MYO9A):c.4550G>A (p.Arg1517His) rs149046541
NM_006904.7(PRKDC):c.11050T>C (p.Ser3684Pro) rs2154497615
NM_006904.7(PRKDC):c.154+19T>C rs2154504861
NM_006904.7(PRKDC):c.5181G>C (p.Arg1727Ser) rs1363640503
NM_006904.7(PRKDC):c.5750+2_5750+5del rs2154500742
NM_006904.7(PRKDC):c.9556C>T (p.Arg3186Ter)
NM_006904.7(PRKDC):c.9557+2T>A
NM_006904.7(PRKDC):c.9749A>G (p.Asn3250Ser)
NM_006907.4(PYCR1):c.148G>A (p.Val50Met) rs550125238
NM_006907.4(PYCR1):c.321G>A (p.Lys107=)
NM_006907.4(PYCR1):c.515G>A (p.Gly172Glu)
NM_006907.4(PYCR1):c.635G>A (p.Gly212Glu) rs1194906519
NM_006907.4(PYCR1):c.778G>C (p.Ala260Pro)
NM_006907.4(PYCR1):c.820C>T (p.Gln274Ter) rs767043460
NM_006908.5(RAC1):c.35+2T>G
NM_006912.6(RIT1):c.113C>G (p.Thr38Ser) rs2102590960
NM_006912.6(RIT1):c.272G>A (p.Arg91Lys) rs2102584832
NM_006912.6(RIT1):c.29G>T (p.Ser10Ile)
NM_006912.6(RIT1):c.358C>G (p.Arg120Gly) rs2102584744
NM_006912.6(RIT1):c.437A>G (p.Lys146Arg)
NM_006912.6(RIT1):c.532C>G (p.Leu178Val) rs730881013
NM_006912.6(RIT1):c.563_648dup (p.Ser217delinsArgGlnTyrTrpProTrpArgLysAsnLeuSerProLysThrValTyrGlyArgGlyTer) rs1673287743
NM_006912.6(RIT1):c.589T>C (p.Ser197Pro) rs1673289658
NM_006912.6(RIT1):c.659GAAGA[1] (p.Ter220=) rs777195602
NM_006912.6(RIT1):c.78G>A (p.Met26Ile)
NM_006929.5(SKIC2):c.919-3_919-2insCA
NM_006939.4(SOS2):c.1068+17_1068+18del
NM_006939.4(SOS2):c.1197-11G>C
NM_006939.4(SOS2):c.1310A>G (p.Gln437Arg)
NM_006939.4(SOS2):c.1323A>T (p.Glu441Asp)
NM_006939.4(SOS2):c.1429C>T (p.Arg477Trp) rs1555370121
NM_006939.4(SOS2):c.1564ATA[1] (p.Ile523del)
NM_006939.4(SOS2):c.1844T>C (p.Met615Thr)
NM_006939.4(SOS2):c.1895T>G (p.Phe632Cys) rs373142212
NM_006939.4(SOS2):c.1934+12A>G rs1054073809
NM_006939.4(SOS2):c.213+7A>C rs1886593848
NM_006939.4(SOS2):c.2162-27_2231dup rs1884615891
NM_006939.4(SOS2):c.2168C>T (p.Ala723Val) rs1566827698
NM_006939.4(SOS2):c.2234_2278dup (p.Gly745_Ile759dup) rs1884613778
NM_006939.4(SOS2):c.2701G>A (p.Glu901Lys) rs556373963
NM_006939.4(SOS2):c.2959-20T>G rs375042033
NM_006939.4(SOS2):c.3076-19T>C
NM_006939.4(SOS2):c.3089C>G (p.Thr1030Ser)
NM_006939.4(SOS2):c.3157C>T (p.Arg1053Ter) rs1883839880
NM_006939.4(SOS2):c.3163_3183dup (p.Arg1061_Glu1062insHisProThrProLeuGluArg)
NM_006939.4(SOS2):c.3302G>A (p.Ser1101Asn) rs1419463844
NM_006939.4(SOS2):c.3337+4A>G rs924531063
NM_006939.4(SOS2):c.346-10_346-8del
NM_006939.4(SOS2):c.3544C>T (p.Pro1182Ser)
NM_006939.4(SOS2):c.3584C>G (p.Ala1195Gly)
NM_006939.4(SOS2):c.3679T>G (p.Phe1227Val)
NM_006939.4(SOS2):c.3997T>C (p.Ter1333Arg)
NM_006939.4(SOS2):c.445G>A (p.Val149Ile)
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.624_673dup (p.Arg225delinsGlnLysLysAspSerIleTyrGlyAsnTer) rs1886002059
NM_006939.4(SOS2):c.769_858+8dup rs1885775324
NM_006939.4(SOS2):c.858+12A>G rs1318750223
NM_006939.4(SOS2):c.944G>A (p.Arg315Lys) rs2139702139
NM_006939.4(SOS2):c.970-24_1037dup rs1885463095
NM_006939.4(SOS2):c.985_1064dup (p.Lys356fs) rs1885462206
NM_006940.6(SOX5):c.811-4G>A
NM_006940.6(SOX5):c.982G>A (p.Ala328Thr)
NM_006941.4(SOX10):c.1252G>A (p.Ala418Thr)
NM_006946.4(SPTBN2):c.1282G>T (p.Ala428Ser)
NM_006946.4(SPTBN2):c.2305C>G (p.Leu769Val)
NM_006946.4(SPTBN2):c.266G>A (p.Arg89His) rs374485184
NM_006946.4(SPTBN2):c.2779G>A (p.Asp927Asn)
NM_006946.4(SPTBN2):c.4964T>C (p.Ile1655Thr)
NM_006946.4(SPTBN2):c.5190+6T>C
NM_006946.4(SPTBN2):c.5377C>G (p.Arg1793Gly) rs1314673381
NM_006946.4(SPTBN2):c.5659G>A (p.Glu1887Lys)
NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro) rs35490401
NM_006949.4(STXBP2):c.1630A>G (p.Met544Val) rs1263938690
NM_006949.4(STXBP2):c.1674G>T (p.Glu558Asp) rs780461960
NM_006950.3(SYN1):c.1648G>A (p.Ala550Thr) rs397514680
NM_006950.3(SYN1):c.1765G>A (p.Gly589Ser)
NM_006950.3(SYN1):c.1925A>G (p.Gln642Arg)
NM_006982.3(ALX1):c.149T>C (p.Val50Ala)
NM_006996.3(SLC19A2):c.1033G>A (p.Ala345Thr)
NM_007050.6(PTPRT):c.89-1G>A
NM_007055.4(POLR3A):c.1674C>G (p.Phe558Leu) rs267608668
NM_007078.3(LDB3):c.1115T>C (p.Val372Ala)
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
NM_007078.3(LDB3):c.1349T>C (p.Val450Ala) rs1407391787
NM_007078.3(LDB3):c.1353_1354inv (p.Thr452Ala)
NM_007078.3(LDB3):c.1387C>T (p.Pro463Ser)
NM_007078.3(LDB3):c.1597del (p.Arg533fs)
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.1857+8G>T rs1846943768
NM_007078.3(LDB3):c.811C>T (p.Gln271Ter) rs2132415645
NM_007078.3(LDB3):c.859+5G>C
NM_007078.3(LDB3):c.94-1G>C
NM_007103.4(NDUFV1):c.383G>A (p.Arg128Gln) rs778295360
NM_007103.4(NDUFV1):c.733G>A (p.Val245Met)
NM_007103.4(NDUFV1):c.76G>A (p.Ala26Thr)
NM_007103.4(NDUFV1):c.904A>G (p.Lys302Glu) rs573896386
NM_007118.4(TRIO):c.1053+8C>T
NM_007118.4(TRIO):c.2167G>T (p.Val723Leu)
NM_007118.4(TRIO):c.3716G>A (p.Arg1239Lys) rs2152361600
NM_007118.4(TRIO):c.3881+3A>T
NM_007118.4(TRIO):c.4951A>G (p.Ser1651Gly)
NM_007118.4(TRIO):c.5638C>T (p.Leu1880Phe)
NM_007118.4(TRIO):c.5926G>C (p.Glu1976Gln)
NM_007118.4(TRIO):c.7059CTC[1] (p.Ser2355del)
NM_007118.4(TRIO):c.7444G>C (p.Gly2482Arg)
NM_007118.4(TRIO):c.761G>A (p.Arg254Gln)
NM_007118.4(TRIO):c.8332+6C>T
NM_007118.4(TRIO):c.8915C>A (p.Thr2972Asn)
NM_007118.4(TRIO):c.905C>T (p.Ala302Val)
NM_007194.4(CHEK2):c.1003G>C (p.Val335Leu) rs563752762
NM_007194.4(CHEK2):c.1013T>G (p.Leu338Arg) rs374660293
NM_007194.4(CHEK2):c.104C>G (p.Ser35Cys) rs786203185
NM_007194.4(CHEK2):c.1054A>T (p.Asn352Tyr) rs1361935182
NM_007194.4(CHEK2):c.1055A>G (p.Asn352Ser) rs764181318
NM_007194.4(CHEK2):c.1114T>A (p.Ser372Thr) rs1555913901
NM_007194.4(CHEK2):c.1160C>T (p.Thr387Ile) rs587780168
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.1243G>A (p.Val415Ile) rs1601721900
NM_007194.4(CHEK2):c.1246_1248del (p.Ile416del) rs760118917
NM_007194.4(CHEK2):c.1265G>C (p.Ser422Thr) rs549755590
NM_007194.4(CHEK2):c.1288C>T (p.His430Tyr) rs1601719955
NM_007194.4(CHEK2):c.1354T>C (p.Trp452Arg) rs764449869
NM_007194.4(CHEK2):c.1375+10T>C rs2052511807
NM_007194.4(CHEK2):c.1447C>T (p.His483Tyr) rs786203490
NM_007194.4(CHEK2):c.1490A>T (p.Asp497Val) rs549945536
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1542+7G>A rs4035547
NM_007194.4(CHEK2):c.1556G>A (p.Arg519Gln) rs587780180
NM_007194.4(CHEK2):c.1567del (p.Arg523fs) rs587782684
NM_007194.4(CHEK2):c.1570G>A (p.Glu524Lys) rs876658872
NM_007194.4(CHEK2):c.1591G>C (p.Glu531Gln) rs587781710
NM_007194.4(CHEK2):c.1603C>T (p.Arg535Cys) rs576248104
NM_007194.4(CHEK2):c.185C>T (p.Ser62Phe) rs876659424
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007194.4(CHEK2):c.254C>G (p.Pro85Arg) rs17883862
NM_007194.4(CHEK2):c.319+8C>A rs776443322
NM_007194.4(CHEK2):c.320-5T>C rs121908700
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp) rs878854919
NM_007194.4(CHEK2):c.442A>G (p.Arg148Gly) rs876660482
NM_007194.4(CHEK2):c.479T>C (p.Ile160Thr) rs72552323
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007194.4(CHEK2):c.482A>G (p.Glu161Gly) rs730881683
NM_007194.4(CHEK2):c.488A>G (p.His163Arg) rs752304641
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr) rs786203973
NM_007194.4(CHEK2):c.593-11_593-7del rs863224414
NM_007194.4(CHEK2):c.601T>G (p.Phe201Val) rs786202416
NM_007194.4(CHEK2):c.609T>G (p.Asp203Glu) rs587781563
NM_007194.4(CHEK2):c.684-4C>A rs121908695
NM_007194.4(CHEK2):c.684-8C>T rs1555921406
NM_007194.4(CHEK2):c.742A>G (p.Ile248Val) rs779457035
NM_007194.4(CHEK2):c.749T>C (p.Ile250Thr) rs1060502719
NM_007194.4(CHEK2):c.772A>G (p.Ile258Val) rs876658690
NM_007194.4(CHEK2):c.776G>A (p.Gly259Asp)
NM_007194.4(CHEK2):c.77C>A (p.Thr26Asn) rs878854923
NM_007194.4(CHEK2):c.797C>T (p.Pro266Leu) rs786203778
NM_007194.4(CHEK2):c.839T>C (p.Leu280Pro) rs1490781911
NM_007194.4(CHEK2):c.908+7A>T rs2052973187
NM_007212.4(RNF2):c.248+11A>T
NM_007214.5(SEC63):c.340-10_340-7del rs66526324
NM_007215.4(POLG2):c.1265A>C (p.Gln422Pro)
NM_007215.4(POLG2):c.130G>C (p.Val44Leu)
NM_007254.4(PNKP):c.1288_1298+6dup rs1555810844
NM_007289.4(MME):c.1500G>T (p.Leu500Phe)
NM_007289.4(MME):c.1557A>C (p.Gln519His)
NM_007289.4(MME):c.1601+4C>T
NM_007289.4(MME):c.197-3C>T
NM_007289.4(MME):c.993G>T (p.Met331Ile)
NM_007294.3(BRCA1):c.5193+3_5193+15del rs273901752
NM_007294.4(BRCA1):c.*14C>G rs1064796142
NM_007294.4(BRCA1):c.-1A>G rs587781565
NM_007294.4(BRCA1):c.-3G>C rs273900720
NM_007294.4(BRCA1):c.1005C>A (p.Ser335Arg) rs876660367
NM_007294.4(BRCA1):c.1021G>T (p.Asp341Tyr) rs756987689
NM_007294.4(BRCA1):c.1036C>G (p.Pro346Ala) rs80357015
NM_007294.4(BRCA1):c.1061A>T (p.Asn354Ile) rs1555592577
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr) rs183557525
NM_007294.4(BRCA1):c.1121C>T (p.Thr374Ile) rs80357235
NM_007294.4(BRCA1):c.1135A>G (p.Ile379Val) rs864622723
NM_007294.4(BRCA1):c.1142A>G (p.Lys381Arg) rs1555592379
NM_007294.4(BRCA1):c.1145T>C (p.Val382Ala) rs2053985286
NM_007294.4(BRCA1):c.1155G>T (p.Trp385Cys) rs876660558
NM_007294.4(BRCA1):c.1181G>T (p.Gly394Val) rs1555592295
NM_007294.4(BRCA1):c.1202G>A (p.Gly401Glu) rs397507184
NM_007294.4(BRCA1):c.1212A>C (p.Glu404Asp) rs1057521863
NM_007294.4(BRCA1):c.1231G>C (p.Asp411His) rs80357301
NM_007294.4(BRCA1):c.1256T>G (p.Val419Gly) rs398122628
NM_007294.4(BRCA1):c.1273T>C (p.Ser425Pro)
NM_007294.4(BRCA1):c.1307C>T (p.Pro436Leu) rs2154459839
NM_007294.4(BRCA1):c.1310A>G (p.His437Arg) rs80357255
NM_007294.4(BRCA1):c.134+16T>A rs2055238665
NM_007294.4(BRCA1):c.1379T>G (p.Ile460Arg) rs398122634
NM_007294.4(BRCA1):c.1394A>G (p.Tyr465Cys) rs876659885
NM_007294.4(BRCA1):c.1405G>A (p.Ala469Thr) rs397507187
NM_007294.4(BRCA1):c.1418A>T (p.Asn473Ile) rs80357057
NM_007294.4(BRCA1):c.1450G>A (p.Gly484Arg) rs80357304
NM_007294.4(BRCA1):c.154C>A (p.Leu52Ile) rs80357084
NM_007294.4(BRCA1):c.1574T>C (p.Val525Ala) rs879253902
NM_007294.4(BRCA1):c.1618G>A (p.Glu540Lys) rs730881471
NM_007294.4(BRCA1):c.1652G>A (p.Ser551Asn) rs2154431888
NM_007294.4(BRCA1):c.1662G>C (p.Glu554Asp) rs876659028
NM_007294.4(BRCA1):c.1666A>G (p.Lys556Glu) rs587783041
NM_007294.4(BRCA1):c.1686T>G (p.Ile562Met) rs1268133978
NM_007294.4(BRCA1):c.1701T>G (p.Asn567Lys) rs1555591359
NM_007294.4(BRCA1):c.1709C>A (p.Pro570Gln) rs879254020
NM_007294.4(BRCA1):c.1714G>C (p.Glu572Gln) rs730881473
NM_007294.4(BRCA1):c.1757C>T (p.Pro586Leu) rs1064795270
NM_007294.4(BRCA1):c.1771A>G (p.Ile591Val) rs1064795358
NM_007294.4(BRCA1):c.1786C>G (p.Leu596Val) rs80357371
NM_007294.4(BRCA1):c.1813G>C (p.Ala605Pro) rs587781613
NM_007294.4(BRCA1):c.1817C>T (p.Pro606Leu) rs2154419849
NM_007294.4(BRCA1):c.1826A>G (p.Asn609Ser) rs80357236
NM_007294.4(BRCA1):c.1841A>G (p.Lys614Arg) rs1597873869
NM_007294.4(BRCA1):c.1842G>T (p.Lys614Asn) rs760109939
NM_007294.4(BRCA1):c.1849A>G (p.Thr617Ala) rs45564238
NM_007294.4(BRCA1):c.1855C>T (p.His619Tyr) rs773212667
NM_007294.4(BRCA1):c.1880T>A (p.Val627Asp) rs770002293
NM_007294.4(BRCA1):c.189A>T (p.Leu63Phe) rs80356956
NM_007294.4(BRCA1):c.1931G>C (p.Cys644Ser) rs876658606
NM_007294.4(BRCA1):c.1963_1964delinsAT (p.Tyr655Ile) rs1567797539
NM_007294.4(BRCA1):c.1976C>T (p.Pro659Leu) rs1258526903
NM_007294.4(BRCA1):c.1984C>T (p.His662Tyr) rs397508927
NM_007294.4(BRCA1):c.2005A>T (p.Met669Leu)
NM_007294.4(BRCA1):c.203T>A (p.Ile68Lys) rs80357116
NM_007294.4(BRCA1):c.2065A>G (p.Ser689Gly) rs876660188
NM_007294.4(BRCA1):c.2078_2082delinsGCAGT (p.Asp693Gly) rs2053829800
NM_007294.4(BRCA1):c.2090T>A (p.Phe697Tyr) rs730881476
NM_007294.4(BRCA1):c.2093C>T (p.Pro698Leu) rs1555590478
NM_007294.4(BRCA1):c.2123C>T (p.Ser708Phe) rs80357182
NM_007294.4(BRCA1):c.213-14C>G rs1060502337
NM_007294.4(BRCA1):c.213G>T (p.Arg71Ser) rs1441240938
NM_007294.4(BRCA1):c.2183G>C (p.Arg728Thr) rs80357335
NM_007294.4(BRCA1):c.2203C>G (p.Leu735Val) rs587781781
NM_007294.4(BRCA1):c.2218G>T (p.Val740Leu) rs80357415
NM_007294.4(BRCA1):c.2225A>G (p.Asn742Ser) rs1060499618
NM_007294.4(BRCA1):c.2228A>G (p.Asn743Ser) rs1567796489
NM_007294.4(BRCA1):c.2290G>A (p.Val764Ile) rs768904580
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu) rs80356945
NM_007294.4(BRCA1):c.2342A>C (p.Glu781Ala) rs587776482
NM_007294.4(BRCA1):c.2346T>A (p.Ser782Arg) rs1555589837
NM_007294.4(BRCA1):c.2350T>G (p.Ser784Ala) rs80357399
NM_007294.4(BRCA1):c.2355A>C (p.Leu785Phe) rs1567795966
NM_007294.4(BRCA1):c.2360A>G (p.Glu787Gly)
NM_007294.4(BRCA1):c.237T>A (p.Phe79Leu) rs2054691161
NM_007294.4(BRCA1):c.238A>G (p.Ser80Gly) rs2054690791
NM_007294.4(BRCA1):c.2404G>A (p.Val802Met) rs876660885
NM_007294.4(BRCA1):c.2409T>G (p.Ser803Arg)
NM_007294.4(BRCA1):c.2419G>T (p.Ala807Ser) rs80357240
NM_007294.4(BRCA1):c.2504A>G (p.His835Arg)
NM_007294.4(BRCA1):c.2516A>G (p.His839Arg) rs1050289746
NM_007294.4(BRCA1):c.2527A>G (p.Thr843Ala) rs80357435
NM_007294.4(BRCA1):c.2536G>A (p.Glu846Lys) rs786203523
NM_007294.4(BRCA1):c.2567A>G (p.Tyr856Cys) rs864622122
NM_007294.4(BRCA1):c.2604A>G (p.Ser868=) rs864622491
NM_007294.4(BRCA1):c.2608G>C (p.Ala870Pro) rs753256448
NM_007294.4(BRCA1):c.2612C>G (p.Pro871Arg) rs799917
NM_007294.4(BRCA1):c.2620A>C (p.Asn874His) rs1064795862
NM_007294.4(BRCA1):c.2638G>C (p.Glu880Gln) rs587782370
NM_007294.4(BRCA1):c.2643A>T (p.Glu881Asp)
NM_007294.4(BRCA1):c.2644T>A (p.Cys882Ser) rs184374817
NM_007294.4(BRCA1):c.2705A>G (p.Glu902Gly) rs747287311
NM_007294.4(BRCA1):c.271T>C (p.Cys91Arg) rs786203939
NM_007294.4(BRCA1):c.2738A>G (p.Asn913Ser) rs199954851
NM_007294.4(BRCA1):c.2749A>G (p.Ile917Val) rs1334134701
NM_007294.4(BRCA1):c.2773A>G (p.Ile925Val) rs4986847
NM_007294.4(BRCA1):c.2795T>C (p.Val932Ala) rs2154359210
NM_007294.4(BRCA1):c.2815G>T (p.Val939Phe)
NM_007294.4(BRCA1):c.2831G>A (p.Cys944Tyr) rs770769275
NM_007294.4(BRCA1):c.2834G>C (p.Ser945Thr) rs746727823
NM_007294.4(BRCA1):c.2836A>T (p.Ile946Phe) rs876660901
NM_007294.4(BRCA1):c.2862ATC[1] (p.Ser956del) rs1567793980
NM_007294.4(BRCA1):c.2893C>G (p.Leu965Val) rs1060502344
NM_007294.4(BRCA1):c.2893C>T (p.Leu965Phe) rs1060502344
NM_007294.4(BRCA1):c.28G>A (p.Glu10Lys) rs2055737833
NM_007294.4(BRCA1):c.2905A>G (p.Asn969Asp) rs587781641
NM_007294.4(BRCA1):c.2933A>G (p.Tyr978Cys) rs863224756
NM_007294.4(BRCA1):c.2959A>G (p.Lys987Glu) rs878854941
NM_007294.4(BRCA1):c.2980T>C (p.Cys994Arg) rs144853230
NM_007294.4(BRCA1):c.2998_3003del (p.Glu1000_Glu1001del) rs80358333
NM_007294.4(BRCA1):c.3001G>A (p.Glu1001Lys) rs886038007
NM_007294.4(BRCA1):c.301+2dup rs273899694
NM_007294.4(BRCA1):c.302-5T>C rs778668665
NM_007294.4(BRCA1):c.3053A>G (p.Asn1018Ser) rs1567793093
NM_007294.4(BRCA1):c.3071G>A (p.Ser1024Asn) rs757579891
NM_007294.4(BRCA1):c.3079_3080delinsGA (p.Ser1027Asp) rs1567793005
NM_007294.4(BRCA1):c.3080G>C (p.Ser1027Thr) rs80357386
NM_007294.4(BRCA1):c.3083G>T (p.Arg1028Leu) rs80357459
NM_007294.4(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.4(BRCA1):c.3151A>G (p.Thr1051Ala) rs398122671
NM_007294.4(BRCA1):c.3159A>C (p.Glu1053Asp) rs1567792698
NM_007294.4(BRCA1):c.3167C>T (p.Ser1056Phe) rs587781588
NM_007294.4(BRCA1):c.3245C>T (p.Ala1082Val) rs1555588115
NM_007294.4(BRCA1):c.3247A>G (p.Met1083Val) rs397507213
NM_007294.4(BRCA1):c.3269A>G (p.Gln1090Arg) rs1555588045
NM_007294.4(BRCA1):c.3270A>T (p.Gln1090His) rs369925993
NM_007294.4(BRCA1):c.329A>G (p.Lys110Arg)
NM_007294.4(BRCA1):c.3319G>A (p.Glu1107Lys)
NM_007294.4(BRCA1):c.3327_3329del (p.Lys1110del) rs80357575
NM_007294.4(BRCA1):c.3341AAG[3] (p.Glu1115_Val1116insGlu) rs80358336
NM_007294.4(BRCA1):c.3368A>T (p.Asp1123Val) rs1555587851
NM_007294.4(BRCA1):c.3379T>C (p.Tyr1127His) rs1451089848
NM_007294.4(BRCA1):c.3392A>G (p.Asp1131Gly) rs1555587813
NM_007294.4(BRCA1):c.3410T>C (p.Met1137Thr) rs80357297
NM_007294.4(BRCA1):c.3433G>T (p.Val1145Phe) rs431825396
NM_007294.4(BRCA1):c.343C>T (p.Pro115Ser) rs1468589409
NM_007294.4(BRCA1):c.3454G>C (p.Asp1152His) rs80357175
NM_007294.4(BRCA1):c.3458T>C (p.Leu1153Pro) rs1597863549
NM_007294.4(BRCA1):c.3524C>T (p.Ala1175Val) rs1567791322
NM_007294.4(BRCA1):c.353T>G (p.Leu118Arg) rs2054632458
NM_007294.4(BRCA1):c.3541G>T (p.Val1181Phe) rs56336919
NM_007294.4(BRCA1):c.3555G>T (p.Glu1185Asp) rs587779368
NM_007294.4(BRCA1):c.3556C>T (p.Leu1186Phe) rs1555587505
NM_007294.4(BRCA1):c.3581C>T (p.Thr1194Ile) rs80357290
NM_007294.4(BRCA1):c.3584A>G (p.His1195Arg) rs28897685
NM_007294.4(BRCA1):c.3632C>G (p.Ser1211Cys) rs1555587377
NM_007294.4(BRCA1):c.3640G>C (p.Glu1214Gln) rs80356923
NM_007294.4(BRCA1):c.3674G>C (p.Cys1225Ser) rs1567790638
NM_007294.4(BRCA1):c.369T>C (p.Ser123=) rs774583925
NM_007294.4(BRCA1):c.3700G>C (p.Val1234Leu) rs763354142
NM_007294.4(BRCA1):c.3722C>A (p.Ser1241Tyr) rs80357143
NM_007294.4(BRCA1):c.3776A>C (p.Asn1259Thr) rs483353090
NM_007294.4(BRCA1):c.3792G>C (p.Lys1264Asn) rs894781955
NM_007294.4(BRCA1):c.3910G>C (p.Glu1304Gln)
NM_007294.4(BRCA1):c.3925A>G (p.Asn1309Asp) rs2053499636
NM_007294.4(BRCA1):c.3928A>G (p.Thr1310Ala) rs2053499046
NM_007294.4(BRCA1):c.3962C>G (p.Ser1321Cys) rs386833394
NM_007294.4(BRCA1):c.3965A>G (p.Lys1322Arg) rs80357042
NM_007294.4(BRCA1):c.3970A>T (p.Met1324Leu) rs587782241
NM_007294.4(BRCA1):c.3982T>C (p.Ser1328Pro)
NM_007294.4(BRCA1):c.3985G>A (p.Glu1329Lys) rs876659467
NM_007294.4(BRCA1):c.4048G>T (p.Gly1350Cys) rs748674194
NM_007294.4(BRCA1):c.4055A>T (p.Glu1352Val) rs879254228
NM_007294.4(BRCA1):c.4063A>G (p.Asn1355Asp) rs876660530
NM_007294.4(BRCA1):c.4075C>A (p.Gln1359Lys) rs80357456
NM_007294.4(BRCA1):c.4080C>G (p.Ser1360Arg) rs2053471401
NM_007294.4(BRCA1):c.4081A>G (p.Met1361Val) rs80357218
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4096G>A (p.Gly1366Ser) rs431825405
NM_007294.4(BRCA1):c.4097-11T>G rs80358072
NM_007294.4(BRCA1):c.4097G>A (p.Gly1366Asp) rs876660948
NM_007294.4(BRCA1):c.4099G>A (p.Glu1367Lys) rs786202998
NM_007294.4(BRCA1):c.4111G>C (p.Gly1371Arg) rs774593602
NM_007294.4(BRCA1):c.4133T>C (p.Val1378Ala) rs1567788422
NM_007294.4(BRCA1):c.4178C>G (p.Thr1393Ser) rs1555586071
NM_007294.4(BRCA1):c.4184A>G (p.Gln1395Arg) rs80356972
NM_007294.4(BRCA1):c.4185+10G>A rs80358104
NM_007294.4(BRCA1):c.4185+16G>C rs774646943
NM_007294.4(BRCA1):c.4211T>G (p.Leu1404Arg) rs80356916
NM_007294.4(BRCA1):c.4253T>C (p.Leu1418Ser) rs397509157
NM_007294.4(BRCA1):c.427G>C (p.Glu143Gln) rs80356991
NM_007294.4(BRCA1):c.4288C>T (p.Pro1430Ser) rs80357466
NM_007294.4(BRCA1):c.4289C>T (p.Pro1430Leu) rs1597847973
NM_007294.4(BRCA1):c.4319A>G (p.Glu1440Gly) rs786202288
NM_007294.4(BRCA1):c.4333C>A (p.Pro1445Thr) rs876660684
NM_007294.4(BRCA1):c.4358-12T>C rs2154074579
NM_007294.4(BRCA1):c.4358-13A>G rs1567780008
NM_007294.4(BRCA1):c.4358-2del rs1353755235
NM_007294.4(BRCA1):c.4358-4A>G rs1567779976
NM_007294.4(BRCA1):c.4379G>A (p.Ser1460Asn) rs397509167
NM_007294.4(BRCA1):c.441+6dup rs1060504561
NM_007294.4(BRCA1):c.4441G>A (p.Ala1481Thr) rs1135401828
NM_007294.4(BRCA1):c.4454C>T (p.Thr1485Ile) rs80356870
NM_007294.4(BRCA1):c.4460A>G (p.Lys1487Arg) rs80357126
NM_007294.4(BRCA1):c.4471C>T (p.Pro1491Ser) rs111034213
NM_007294.4(BRCA1):c.4481A>C (p.Glu1494Ala)
NM_007294.4(BRCA1):c.4481A>G (p.Glu1494Gly) rs758779691
NM_007294.4(BRCA1):c.4484+10A>G rs80358077
NM_007294.4(BRCA1):c.4510T>G (p.Leu1504Val) rs1567778337
NM_007294.4(BRCA1):c.4631C>T (p.Pro1544Leu) rs80356917
NM_007294.4(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.4(BRCA1):c.4655A>G (p.Tyr1552Cys) rs2052589802
NM_007294.4(BRCA1):c.465A>C (p.Gln155His) rs864622260
NM_007294.4(BRCA1):c.4668A>C (p.Gln1556His) rs1485442602
NM_007294.4(BRCA1):c.466C>A (p.Leu156Ile) rs587778115
NM_007294.4(BRCA1):c.4670A>G (p.Asp1557Gly) rs869320779
NM_007294.4(BRCA1):c.4675+3A>G rs80358082
NM_007294.4(BRCA1):c.4693G>A (p.Glu1565Lys) rs863224762
NM_007294.4(BRCA1):c.4713C>G (p.Phe1571Leu) rs768945711
NM_007294.4(BRCA1):c.4748G>C (p.Arg1583Thr) rs752624544
NM_007294.4(BRCA1):c.4780C>T (p.Pro1594Ser) rs587782012
NM_007294.4(BRCA1):c.4790C>A (p.Thr1597Asn) rs587781623
NM_007294.4(BRCA1):c.4807_4821del (p.Pro1603_Val1607del) rs80359888
NM_007294.4(BRCA1):c.4808C>T (p.Pro1603Leu) rs1064794054
NM_007294.4(BRCA1):c.4884G>T (p.Met1628Ile) rs80357158
NM_007294.4(BRCA1):c.4935G>T (p.Arg1645Ser) rs80357373
NM_007294.4(BRCA1):c.4973C>A (p.Thr1658Asn) rs1015073230
NM_007294.4(BRCA1):c.5044G>A (p.Glu1682Lys) rs80356958
NM_007294.4(BRCA1):c.5074+19C>T rs2052152874
NM_007294.4(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.4(BRCA1):c.5107T>G (p.Tyr1703Asp) rs863224763
NM_007294.4(BRCA1):c.5125G>A (p.Gly1709Arg) rs886038197
NM_007294.4(BRCA1):c.5151C>T (p.Phe1717=) rs2051906420
NM_007294.4(BRCA1):c.5152+6T>G rs80358074
NM_007294.4(BRCA1):c.5152+7A>G rs80358046
NM_007294.4(BRCA1):c.5155G>A (p.Val1719Met) rs749465132
NM_007294.4(BRCA1):c.5193+10T>C rs1567768548
NM_007294.4(BRCA1):c.5193+15T>A rs2051850619
NM_007294.4(BRCA1):c.5193+19A>G rs1555578276
NM_007294.4(BRCA1):c.5193+3A>G rs1060502326
NM_007294.4(BRCA1):c.5193+6T>C rs1555578283
NM_007294.4(BRCA1):c.5197G>A (p.Asp1733Asn) rs398122693
NM_007294.4(BRCA1):c.523A>G (p.Lys175Glu) rs1567806027
NM_007294.4(BRCA1):c.5269G>A (p.Asp1757Asn) rs863224764
NM_007294.4(BRCA1):c.5296A>G (p.Ile1766Val) rs886039314
NM_007294.4(BRCA1):c.52A>G (p.Met18Val) rs2055727017
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.4(BRCA1):c.5332+19C>A rs774813458
NM_007294.4(BRCA1):c.5343A>C (p.Glu1781Asp) rs1555575182
NM_007294.4(BRCA1):c.5378A>C (p.Lys1793Thr) rs730881446
NM_007294.4(BRCA1):c.5401G>C (p.Gly1801Arg) rs587776492
NM_007294.4(BRCA1):c.5407-4C>G rs876660347
NM_007294.4(BRCA1):c.5407G>A (p.Gly1803Ser) rs876659510
NM_007294.4(BRCA1):c.5444G>C (p.Trp1815Ser) rs80356962
NM_007294.4(BRCA1):c.5467+19C>T rs2050971735
NM_007294.4(BRCA1):c.548G>T (p.Gly183Val) rs1555594081
NM_007294.4(BRCA1):c.5492C>G (p.Pro1831Arg) rs587782778
NM_007294.4(BRCA1):c.5504G>C (p.Arg1835Pro) rs273902776
NM_007294.4(BRCA1):c.550T>A (p.Ser184Thr) rs1064795269
NM_007294.4(BRCA1):c.5529_5530delinsCA (p.Leu1844Ile) rs1555574389
NM_007294.4(BRCA1):c.552dup (p.Asp185Ter) rs1555594073
NM_007294.4(BRCA1):c.5565_5573del (p.Gln1857_Pro1859del) rs397507253
NM_007294.4(BRCA1):c.5571_5579del (p.Gln1857_Pro1859del) rs775417240
NM_007294.4(BRCA1):c.5575C>T (p.Pro1859Ser) rs1555574342
NM_007294.4(BRCA1):c.5578dup (p.His1860fs) rs397507254
NM_007294.4(BRCA1):c.572T>A (p.Val191Asp) rs80357142
NM_007294.4(BRCA1):c.587A>T (p.Tyr196Phe) rs1555594039
NM_007294.4(BRCA1):c.594-10T>C rs1044086308
NM_007294.4(BRCA1):c.626C>T (p.Pro209Leu) rs201596327
NM_007294.4(BRCA1):c.640G>A (p.Asp214Asn) rs786203797
NM_007294.4(BRCA1):c.650G>A (p.Ser217Asn)
NM_007294.4(BRCA1):c.656A>T (p.Asp219Val) rs2054110068
NM_007294.4(BRCA1):c.670+3A>T rs1555593531
NM_007294.4(BRCA1):c.670G>A (p.Ala224Thr) rs431825419
NM_007294.4(BRCA1):c.671-6T>G rs878854964
NM_007294.4(BRCA1):c.67G>C (p.Glu23Gln) rs372047427
NM_007294.4(BRCA1):c.683T>A (p.Phe228Tyr) rs191872612
NM_007294.4(BRCA1):c.714TCA[1] (p.His239del) rs786202378
NM_007294.4(BRCA1):c.722C>T (p.Pro241Leu) rs80357351
NM_007294.4(BRCA1):c.731_732delinsCA (p.Asn244Thr) rs1064794375
NM_007294.4(BRCA1):c.742A>G (p.Thr248Ala) rs879255288
NM_007294.4(BRCA1):c.754C>T (p.Arg252Cys) rs273902786
NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg) rs80357225
NM_007294.4(BRCA1):c.81-13C>T rs56328013
NM_007294.4(BRCA1):c.81-5G>A rs1555599296
NM_007294.4(BRCA1):c.83T>C (p.Leu28Pro) rs80357266
NM_007294.4(BRCA1):c.851A>G (p.Gln284Arg) rs80357039
NM_007294.4(BRCA1):c.854A>G (p.His285Arg) rs2154489161
NM_007294.4(BRCA1):c.889A>G (p.Met297Val) rs80357196
NM_007294.4(BRCA1):c.913T>C (p.Cys305Arg) rs1597879229
NM_007294.4(BRCA1):c.914G>A (p.Cys305Tyr) rs751124745
NM_007294.4(BRCA1):c.971G>A (p.Ser324Asn) rs1462728426
NM_007294.4(BRCA1):c.97G>C (p.Glu33Gln) rs80357066
NM_007325.5(GRIA3):c.2126C>T (p.Ala709Val)
NM_007325.5(GRIA3):c.2476G>A (p.Gly826Ser)
NM_007325.5(GRIA3):c.425G>A (p.Arg142His)
NM_007325.5(GRIA3):c.538G>A (p.Ala180Thr)
NM_007327.4(GRIN1):c.1036C>T (p.Arg346Trp) rs1833355927
NM_007327.4(GRIN1):c.2054A>G (p.Lys685Arg)
NM_007327.4(GRIN1):c.334G>A (p.Gly112Ser) rs762157647
NM_007347.5(AP4E1):c.2T>C (p.Met1Thr)
NM_007363.5(NONO):c.1131+5A>G
NM_007363.5(NONO):c.116C>T (p.Pro39Leu)
NM_007363.5(NONO):c.1408C>T (p.Arg470Ter)
NM_007373.4(SHOC2):c.*16C>G rs753327392
NM_007373.4(SHOC2):c.187G>C (p.Gly63Arg) rs1564714645
NM_007373.4(SHOC2):c.284_351dup (p.Ser118fs) rs1847638431
NM_007373.4(SHOC2):c.307A>G (p.Met103Val)
NM_007373.4(SHOC2):c.309G>A (p.Met103Ile) rs1479169790
NM_007373.4(SHOC2):c.425T>G (p.Val142Gly) rs768053004
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.556T>G (p.Ser186Ala) rs1000163945
NM_007373.4(SHOC2):c.605A>G (p.Asn202Ser)
NM_007373.4(SHOC2):c.85A>G (p.Lys29Glu) rs1414935471
NM_007373.4(SHOC2):c.911C>T (p.Ala304Val) rs759211899
NM_007373.4(SHOC2):c.923C>T (p.Ala308Val)
NM_007375.4(TARDBP):c.1070G>A (p.Gly357Asp)
NM_012062.5(DNM1L):c.1582G>A (p.Val528Ile)
NM_012062.5(DNM1L):c.251-5dup rs1188011409
NM_012062.5(DNM1L):c.889A>T (p.Ile297Phe)
NM_012114.3(CASP14):c.361C>T (p.Arg121Ter)
NM_012114.3(CASP14):c.397C>T (p.Arg133Ter)
NM_012114.3(CASP14):c.462_463del (p.Asp154fs) rs769277893
NM_012123.4(MTO1):c.1260+309del rs988279203
NM_012154.5(AGO2):c.1742A>G (p.Gln581Arg)
NM_012156.2(EPB41L1):c.1318G>C (p.Ala440Pro)
NM_012156.2(EPB41L1):c.1684G>A (p.Glu562Lys)
NM_012156.2(EPB41L1):c.665C>T (p.Ala222Val)
NM_012186.3(FOXE3):c.-2C>G
NM_012186.3(FOXE3):c.380A>G (p.Asp127Gly)
NM_012186.3(FOXE3):c.3G>C (p.Met1Ile)
NM_012199.5(AGO1):c.614G>T (p.Arg205Leu)
NM_012203.2(GRHPR):c.286_287+1del rs750079140
NM_012203.2(GRHPR):c.905G>C (p.Arg302Pro)
NM_012210.4(TRIM32):c.463C>T (p.Arg155Cys) rs374055553
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg) rs200413924
NM_012216.4(MID2):c.1435+1G>A
NM_012216.4(MID2):c.1756A>G (p.Ile586Val)
NM_012216.4(MID2):c.397T>A (p.Ser133Thr) rs2147825821
NM_012216.4(MID2):c.402C>G (p.Ser134Arg) rs761567068
NM_012309.5(SHANK2):c.1745A>C (p.Glu582Ala)
NM_012309.5(SHANK2):c.3707G>T (p.Gly1236Val)
NM_012309.5(SHANK2):c.4337C>T (p.Pro1446Leu)
NM_012310.5(KIF4A):c.1327T>A (p.Cys443Ser)
NM_012310.5(KIF4A):c.2899-7G>T
NM_012310.5(KIF4A):c.578A>T (p.Gln193Leu)
NM_012318.3(LETM1):c.1743+4G>A
NM_012318.3(LETM1):c.920G>A (p.Arg307His)
NM_012330.4(KAT6B):c.1864C>T (p.Arg622Ter) rs1383727273
NM_012330.4(KAT6B):c.2576T>C (p.Met859Thr)
NM_012330.4(KAT6B):c.2735A>G (p.Glu912Gly)
NM_012330.4(KAT6B):c.3173G>A (p.Arg1058Gln)
NM_012330.4(KAT6B):c.3730T>G (p.Cys1244Gly)
NM_012330.4(KAT6B):c.586C>G (p.Pro196Ala) rs2132075785
NM_012330.4(KAT6B):c.622-4A>G
NM_012335.4(MYO1F):c.2338C>G (p.Arg780Gly) rs201198914
NM_012388.4(BLOC1S6):c.480_486del (p.Arg160fs)
NM_012398.3(PIP5K1C):c.-1C>G
NM_012398.3(PIP5K1C):c.1603A>G (p.Ile535Val)
NM_012431.3(SEMA3E):c.1010G>A (p.Arg337Gln)
NM_012433.4(SF3B1):c.2587C>T (p.Gln863Ter) rs2084930929
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
NM_012434.5(SLC17A5):c.1454G>A (p.Trp485Ter)
NM_012434.5(SLC17A5):c.316G>A (p.Glu106Lys)
NM_012434.5(SLC17A5):c.509T>C (p.Leu170Pro)
NM_012434.5(SLC17A5):c.511G>A (p.Glu171Lys)
NM_012434.5(SLC17A5):c.[509T>C;511G>A]
NM_012448.4(STAT5B):c.2178G>A (p.Met726Ile) rs768971207
NM_012448.4(STAT5B):c.681+4A>G
NM_012448.4(STAT5B):c.802C>T (p.Pro268Ser)
NM_012452.3(TNFRSF13B):c.632-2A>G
NM_012463.4(ATP6V0A2):c.2056-2dup
NM_012470.4(TNPO3):c.1165G>A (p.Val389Ile)
NM_012470.4(TNPO3):c.140C>G (p.Ser47Ter)
NM_012470.4(TNPO3):c.1616A>G (p.Asn539Ser)
NM_012470.4(TNPO3):c.2516A>C (p.His839Pro)
NM_012470.4(TNPO3):c.321+1G>T
NM_012473.4(TXN2):c.388-1G>A
NM_012479.4(YWHAG):c.88-1G>A
NM_013245.3(VPS4A):c.769+3G>A
NM_013275.6(ANKRD11):c.1000C>T (p.Pro334Ser)
NM_013275.6(ANKRD11):c.1415G>A (p.Arg472Gln)
NM_013275.6(ANKRD11):c.1470G>T (p.Glu490Asp)
NM_013275.6(ANKRD11):c.2639C>T (p.Thr880Met)
NM_013275.6(ANKRD11):c.4164C>G (p.Asp1388Glu)
NM_013275.6(ANKRD11):c.6403C>A (p.Pro2135Thr)
NM_013275.6(ANKRD11):c.6474A>T (p.Glu2158Asp) rs1453564938
NM_013275.6(ANKRD11):c.6647C>T (p.Ala2216Val) rs2151734743
NM_013275.6(ANKRD11):c.6800C>T (p.Ser2267Phe)
NM_013275.6(ANKRD11):c.7937_7938dup (p.Phe2647fs) rs2151660554
NM_013291.3(CPSF1):c.3893G>A (p.Arg1298His)
NM_013335.4(GMPPA):c.1001C>T (p.Thr334Met)
NM_013335.4(GMPPA):c.486C>G (p.His162Gln) rs36029384
NM_013339.4(ALG6):c.908_910del (p.Cys303del) rs1057517952
NM_013382.7(POMT2):c.1465_1476del (p.Gly489_Leu492del)
NM_013382.7(POMT2):c.1637A>C (p.His546Pro)
NM_013382.7(POMT2):c.2147+1del
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) rs1452558347
NM_013382.7(POMT2):c.2201del (p.Asp734fs) rs2140156993
NM_013382.7(POMT2):c.406T>C (p.Tyr136His) rs1891230114
NM_013382.7(POMT2):c.558C>G (p.Cys186Trp) rs2139487152
NM_013386.5(SLC25A24):c.715C>T (p.Arg239Ter)
NM_013975.4(LIG3):c.1073T>C (p.Phe358Ser)
NM_013975.4(LIG3):c.1166A>G (p.Lys389Arg)
NM_013975.4(LIG3):c.1824-13C>T
NM_013975.4(LIG3):c.1859A>G (p.Asn620Ser)
NM_013975.4(LIG3):c.2200G>C (p.Asp734His) rs1567693216
NM_013975.4(LIG3):c.2332-19G>C
NM_013975.4(LIG3):c.2860C>A (p.Arg954Ser)
NM_013975.4(LIG3):c.382T>G (p.Ser128Ala) rs1021764612
NM_013975.4(LIG3):c.744T>A (p.Ser248Arg)
NM_014000.3(VCL):c.1225C>T (p.Arg409Ter) rs202005455
NM_014000.3(VCL):c.151G>T (p.Val51Phe) rs1565628951
NM_014000.3(VCL):c.2185G>A (p.Ala729Thr) rs957518574
NM_014000.3(VCL):c.2362G>C (p.Asp788His)
NM_014000.3(VCL):c.2455G>A (p.Asp819Asn)
NM_014000.3(VCL):c.2823_2824delinsGT (p.Pro942Ser) rs1060502196
NM_014000.3(VCL):c.2827C>A (p.Pro943Thr) rs71579375
NM_014008.5(CCDC22):c.127C>T (p.Arg43Cys)
NM_014009.4(FOXP3):c.1163A>G (p.Asn388Ser) rs2147944149
NM_014028.4(OSTM1):c.524T>C (p.Leu175Ser) rs2114596894
NM_014043.4(CHMP2B):c.2T>C (p.Met1Thr)
NM_014049.5(ACAD9):c.1504GAG[1] (p.Glu503del) rs765384159
NM_014049.5(ACAD9):c.1750T>C (p.Ser584Pro) rs2107666715
NM_014112.5(TRPS1):c.3515A>G (p.Asp1172Gly) rs986339998
NM_014112.5(TRPS1):c.73G>A (p.Val25Ile)
NM_014141.6(CNTNAP2):c.2255+3G>A rs1366034966
NM_014141.6(CNTNAP2):c.2279C>T (p.Ser760Leu) rs1585058146
NM_014141.6(CNTNAP2):c.3956_3957del (p.Thr1319fs) rs1554432792
NM_014159.7(SETD2):c.5500G>A (p.Val1834Ile)
NM_014159.7(SETD2):c.6020A>G (p.Asp2007Gly) rs2107637525
NM_014159.7(SETD2):c.6095A>G (p.Glu2032Gly)
NM_014159.7(SETD2):c.6793G>A (p.Val2265Ile) rs2040110568
NM_014159.7(SETD2):c.7073C>A (p.Pro2358Gln)
NM_014208.3(DSPP):c.211A>T (p.Asn71Tyr)
NM_014208.3(DSPP):c.2961C>G (p.Asp987Glu)
NM_014208.3(DSPP):c.3214A>T (p.Ser1072Cys)
NM_014208.3(DSPP):c.3827G>A (p.Gly1276Asp)
NM_014225.6(PPP2R1A):c.-4del
NM_014225.6(PPP2R1A):c.1547T>C (p.Ile516Thr)
NM_014225.6(PPP2R1A):c.655T>C (p.Ser219Pro) rs2089686081
NM_014233.4(UBTF):c.1925G>A (p.Arg642His)
NM_014244.5(ADAMTS2):c.103G>A (p.Ala35Thr) rs2127463859
NM_014244.5(ADAMTS2):c.119CCG[5] (p.Ala43dup) rs1174228917
NM_014244.5(ADAMTS2):c.128C>G (p.Ala43Gly) rs1377346029
NM_014244.5(ADAMTS2):c.3551C>T (p.Pro1184Leu) rs150989902
NM_014244.5(ADAMTS2):c.3586C>T (p.Gln1196Ter)
NM_014244.5(ADAMTS2):c.71CGC[4] (p.Pro26dup) rs763392299
NM_014248.4(RBX1):c.228+1G>T
NM_014251.3(SLC25A13):c.1359G>T (p.Lys453Asn)
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met) rs554809009
NM_014251.3(SLC25A13):c.1465T>C (p.Cys489Arg)
NM_014251.3(SLC25A13):c.1511A>G (p.Tyr504Cys)
NM_014251.3(SLC25A13):c.1622C>A (p.Ala541Asp)
NM_014251.3(SLC25A13):c.1904A>G (p.Asp635Gly) rs1466662887
NM_014251.3(SLC25A13):c.1A>T (p.Met1Leu)
NM_014251.3(SLC25A13):c.535A>G (p.Thr179Ala) rs768500587
NM_014251.3(SLC25A13):c.674C>T (p.Ser225Leu)
NM_014252.4(SLC25A15):c.818T>A (p.Met273Lys) rs202247808
NM_014271.4(IL1RAPL1):c.261G>C (p.Glu87Asp)
NM_014297.5(ETHE1):c.394A>G (p.Ser132Gly) rs1291692198
NM_014297.5(ETHE1):c.760G>A (p.Ala254Thr)
NM_014314.4(RIGI):c.1936T>A (p.Trp646Arg) rs2118720949
NM_014324.6(AMACR):c.722A>G (p.Tyr241Cys)
NM_014336.5(AIPL1):c.1005del (p.Ala336fs) rs1356057652
NM_014336.5(AIPL1):c.1053_1064del (p.Ala352_Pro355del) rs281865195
NM_014363.6(SACS):c.11101T>C (p.Trp3701Arg) rs773588375
NM_014363.6(SACS):c.13601del (p.Ser4533_Leu4534insTer)
NM_014363.6(SACS):c.1639C>G (p.Pro547Ala) rs2137720410
NM_014363.6(SACS):c.3427C>A (p.Gln1143Lys) rs144267558
NM_014363.6(SACS):c.7163C>T (p.Thr2388Ile)
NM_014384.3(ACAD8):c.473A>G (p.Tyr158Cys) rs779385985
NM_014391.3(ANKRD1):c.346-19_346-15delinsATA
NM_014413.4(EIF2AK1):c.631G>C (p.Val211Leu)
NM_014415.4(ZBTB11):c.718C>T (p.Arg240Ter)
NM_014423.4(AFF4):c.1133+3A>G rs1760573869
NM_014423.4(AFF4):c.437G>C (p.Ser146Thr)
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014467.3(SRPX2):c.355+1G>C
NM_014491.4(FOXP2):c.2066T>C (p.Leu689Ser)
NM_014515.7(CNOT2):c.-9C>T rs2135804415
NM_014625.4(NPHS2):c.29G>C (p.Arg10Thr)
NM_014625.4(NPHS2):c.372C>G (p.Cys124Trp) rs139290621
NM_014625.4(NPHS2):c.561G>A (p.Met187Ile) rs1673966819
NM_014625.4(NPHS2):c.802G>A (p.Val268Met)
NM_014629.4(ARHGEF10):c.1090C>G (p.Leu364Val)
NM_014629.4(ARHGEF10):c.3648C>G (p.Asp1216Glu)
NM_014629.4(ARHGEF10):c.3694C>G (p.Leu1232Val) rs200895319
NM_014639.4(SKIC3):c.1325+4A>C
NM_014639.4(SKIC3):c.236G>T (p.Gly79Val)
NM_014639.4(SKIC3):c.2403T>G (p.Asn801Lys) rs771747292
NM_014639.4(SKIC3):c.3521G>A (p.Arg1174His) rs149287861
NM_014639.4(SKIC3):c.3847G>A (p.Asp1283Asn)
NM_014697.3(NOS1AP):c.453+18G>A
NM_014697.3(NOS1AP):c.454-6T>A rs1335793126
NM_014697.3(NOS1AP):c.762+8A>G rs1557890834
NM_014697.3(NOS1AP):c.92G>A (p.Cys31Tyr) rs1691632353
NM_014698.3(TMEM63A):c.133dup (p.Val45fs)
NM_014698.3(TMEM63A):c.1973A>G (p.Lys658Arg)
NM_014704.4(CEP104):c.1954G>A (p.Asp652Asn)
NM_014704.4(CEP104):c.2179A>G (p.Lys727Glu)
NM_014704.4(CEP104):c.2765A>T (p.Tyr922Phe) rs2124628629
NM_014704.4(CEP104):c.735+6G>T
NM_014712.3(SETD1A):c.1145A>G (p.Tyr382Cys)
NM_014712.3(SETD1A):c.2011G>A (p.Ala671Thr)
NM_014712.3(SETD1A):c.2440A>G (p.Met814Val)
NM_014712.3(SETD1A):c.2614A>T (p.Thr872Ser)
NM_014712.3(SETD1A):c.2964_2966del (p.Glu988del)
NM_014712.3(SETD1A):c.458A>G (p.Lys153Arg)
NM_014712.3(SETD1A):c.716A>T (p.Asn239Ile)
NM_014714.4(IFT140):c.1770+6G>C
NM_014714.4(IFT140):c.2102A>T (p.Glu701Val) rs2141512703
NM_014714.4(IFT140):c.2458G>A (p.Ala820Thr) rs2141185138
NM_014714.4(IFT140):c.248G>A (p.Gly83Glu) rs2142041731
NM_014714.4(IFT140):c.4182G>A (p.Thr1394=)
NM_014714.4(IFT140):c.571T>G (p.Ser191Ala) rs2141912232
NM_014727.3(KMT2B):c.1085A>G (p.Asp362Gly)
NM_014727.3(KMT2B):c.1090G>A (p.Glu364Lys)
NM_014727.3(KMT2B):c.1823C>T (p.Thr608Ile)
NM_014727.3(KMT2B):c.3323C>T (p.Pro1108Leu) rs754957565
NM_014727.3(KMT2B):c.5485C>G (p.Pro1829Ala)
NM_014727.3(KMT2B):c.6248C>T (p.Thr2083Met)
NM_014727.3(KMT2B):c.641C>T (p.Ser214Phe)
NM_014727.3(KMT2B):c.958T>A (p.Ser320Thr)
NM_014762.4(DHCR24):c.55_56insCGCC (p.Arg19fs)
NM_014780.5(CUL7):c.2197C>T (p.His733Tyr) rs979055833
NM_014780.5(CUL7):c.2581C>T (p.Pro861Ser) rs147452416
NM_014780.5(CUL7):c.2744C>A (p.Ser915Tyr) rs1157781142
NM_014780.5(CUL7):c.4355G>A (p.Gly1452Asp)
NM_014780.5(CUL7):c.5029C>T (p.Gln1677Ter)
NM_014780.5(CUL7):c.777T>A (p.His259Gln) rs752414982
NM_014795.4(ZEB2):c.1297C>G (p.Gln433Glu)
NM_014795.4(ZEB2):c.808-12C>T
NM_014822.4(SEC24D):c.1753C>A (p.Pro585Thr) rs750011350
NM_014822.4(SEC24D):c.1937C>T (p.Ser646Leu)
NM_014844.5(TECPR2):c.220-4C>A rs199851151
NM_014846.4(WASHC5):c.1889T>C (p.Ile630Thr)
NM_014846.4(WASHC5):c.2780A>G (p.Asn927Ser)
NM_014846.4(WASHC5):c.3262dup (p.His1088fs) rs2129963735
NM_014855.3(AP5Z1):c.1339A>G (p.Thr447Ala)
NM_014855.3(AP5Z1):c.2131C>T (p.Arg711Trp) rs113184057
NM_014865.4(NCAPD2):c.1406C>T (p.Ala469Val)
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu) rs879254011
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys) rs2100849130
NM_014874.4(MFN2):c.467G>T (p.Ser156Ile) rs1557521949
NM_014874.4(MFN2):c.624G>T (p.Glu208Asp) rs1162977959
NM_014875.3(KIF14):c.14G>T (p.Ser5Ile) rs1256629719
NM_014875.3(KIF14):c.4506_4515delinsTTTAACCA (p.Glu1502fs) rs2102550579
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly) rs755188614
NM_014915.3(ANKRD26):c.-119C>G rs1554800065
NM_014915.3(ANKRD26):c.875-19_896dup
NM_014921.5(ADGRL1):c.3712C>A (p.Pro1238Thr)
NM_014927.5(CNKSR2):c.1003A>G (p.Ser335Gly) rs2091841106
NM_014946.4(SPAST):c.1076TTC[1] (p.Leu360del)
NM_014946.4(SPAST):c.1328T>G (p.Val443Gly) rs2148753923
NM_014946.4(SPAST):c.1462_1463insTTA (p.Asn487_Arg488insIle)
NM_014946.4(SPAST):c.419G>A (p.Gly140Glu) rs763649847
NM_014975.3(MAST1):c.4594C>T (p.Leu1532Phe)
NM_014975.3(MAST1):c.692G>A (p.Cys231Tyr)
NM_014989.7(RIMS1):c.4681C>T (p.Arg1561Ter) rs1168986146
NM_014991.6(WDFY3):c.410G>A (p.Gly137Asp)
NM_014991.6(WDFY3):c.4744G>T (p.Asp1582Tyr)
NM_014991.6(WDFY3):c.6576G>A (p.Gly2192=) rs2149201651
NM_014991.6(WDFY3):c.6722A>C (p.Glu2241Ala)
NM_014991.6(WDFY3):c.7799G>A (p.Ser2600Asn) rs1734049966
NM_015015.3(KDM4B):c.1402C>T (p.Pro468Ser)
NM_015015.3(KDM4B):c.86A>G (p.Asn29Ser)
NM_015021.3(ZNF292):c.1424A>G (p.Asp475Gly)
NM_015021.3(ZNF292):c.2723C>T (p.Ser908Phe)
NM_015021.3(ZNF292):c.5630C>T (p.Thr1877Ile)
NM_015021.3(ZNF292):c.7003C>T (p.Arg2335Ter) rs1168689294
NM_015021.3(ZNF292):c.722A>G (p.Asn241Ser)
NM_015021.3(ZNF292):c.7264A>G (p.Asn2422Asp)
NM_015021.3(ZNF292):c.7346A>T (p.Lys2449Ile)
NM_015021.3(ZNF292):c.7614T>A (p.Asn2538Lys)
NM_015021.3(ZNF292):c.7629_7633del (p.Lys2544fs)
NM_015028.4(TNIK):c.2215C>T (p.Gln739Ter)
NM_015046.7(SETX):c.1948A>G (p.Met650Val)
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.5375-9G>A
NM_015046.7(SETX):c.6691G>T (p.Ala2231Ser)
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015100.4(POGZ):c.1028G>A (p.Ser343Asn)
NM_015100.4(POGZ):c.1909C>T (p.His637Tyr) rs1654692123
NM_015100.4(POGZ):c.3895C>G (p.Gln1299Glu)
NM_015100.4(POGZ):c.4135A>G (p.Ile1379Val)
NM_015100.4(POGZ):c.4148G>A (p.Ser1383Asn)
NM_015102.5(NPHP4):c.96G>T (p.Gln32His) rs776102193
NM_015107.3(PHF8):c.-45_-44insGA rs1347554525
NM_015107.3(PHF8):c.1879A>G (p.Lys627Glu)
NM_015107.3(PHF8):c.1987G>A (p.Asp663Asn)
NM_015141.4(GPD1L):c.215C>T (p.Pro72Leu) rs1559573147
NM_015141.4(GPD1L):c.47+17T>C
NM_015141.4(GPD1L):c.629C>T (p.Ala210Val) rs2125497783
NM_015158.5(KANK1):c.356C>G (p.Ser119Ter)
NM_015166.4(MLC1):c.235G>A (p.Glu79Lys) rs1378938503
NM_015166.4(MLC1):c.806C>A (p.Ser269Tyr) rs528700157
NM_015166.4(MLC1):c.909GCT[8] (p.Leu310dup) rs761096481
NM_015175.3(NBEAL2):c.2044A>T (p.Ile682Phe) rs773164015
NM_015175.3(NBEAL2):c.3584G>A (p.Arg1195Gln)
NM_015175.3(NBEAL2):c.3649G>T (p.Gly1217Trp)
NM_015175.3(NBEAL2):c.4399C>T (p.Arg1467Trp)
NM_015175.3(NBEAL2):c.7779_7781dup (p.Leu2594_Gly2595insLeu)
NM_015178.3(RHOBTB2):c.1474G>C (p.Glu492Gln)
NM_015198.5(COBL):c.958-41_960del rs1794112004
NM_015202.5(KATNIP):c.2180A>T (p.His727Leu)
NM_015202.5(KATNIP):c.26C>A (p.Ala9Asp) rs150063976
NM_015202.5(KATNIP):c.3346+8G>T
NM_015202.5(KATNIP):c.3370A>G (p.Ile1124Val)
NM_015205.3(ATP11A):c.673A>G (p.Lys225Glu)
NM_015215.4(CAMTA1):c.2290C>T (p.His764Tyr)
NM_015215.4(CAMTA1):c.2614A>G (p.Met872Val)
NM_015215.4(CAMTA1):c.4307C>T (p.Thr1436Ile)
NM_015215.4(CAMTA1):c.4982A>G (p.Tyr1661Cys)
NM_015261.3(NCAPD3):c.3867+5G>A
NM_015261.3(NCAPD3):c.4351G>A (p.Gly1451Arg)
NM_015267.4(CUX2):c.2377C>A (p.Arg793Ser)
NM_015267.4(CUX2):c.2566G>A (p.Gly856Ser)
NM_015267.4(CUX2):c.2569G>A (p.Ala857Thr)
NM_015278.5(SASH1):c.1097C>A (p.Pro366His)
NM_015295.3(SMCHD1):c.230C>G (p.Thr77Arg)
NM_015295.3(SMCHD1):c.4664T>C (p.Ile1555Thr)
NM_015311.3(OBSL1):c.2416G>A (p.Val806Met)
NM_015311.3(OBSL1):c.2608C>T (p.Gln870Ter)
NM_015311.3(OBSL1):c.2680+8G>A
NM_015311.3(OBSL1):c.2692_2693delinsGGTGT (p.Trp898delinsGlyVal) rs2106067916
NM_015311.3(OBSL1):c.2826dup (p.Ala943fs) rs759648512
NM_015311.3(OBSL1):c.2920G>A (p.Asp974Asn)
NM_015311.3(OBSL1):c.2953+495C>T
NM_015311.3(OBSL1):c.313C>G (p.Pro105Ala) rs2106118353
NM_015311.3(OBSL1):c.319T>G (p.Ser107Ala) rs2106118316
NM_015311.3(OBSL1):c.3351C>G (p.Asp1117Glu) rs540064378
NM_015311.3(OBSL1):c.3451T>C (p.Tyr1151His)
NM_015311.3(OBSL1):c.3467G>A (p.Arg1156Gln)
NM_015311.3(OBSL1):c.3506_3509dup (p.Val1171fs)
NM_015311.3(OBSL1):c.3947A>G (p.Gln1316Arg)
NM_015311.3(OBSL1):c.4390C>T (p.Gln1464Ter) rs1297285640
NM_015311.3(OBSL1):c.4535dup (p.Ile1513fs) rs1434485676
NM_015311.3(OBSL1):c.4609+1G>A rs371718828
NM_015311.3(OBSL1):c.4757del (p.His1586fs)
NM_015311.3(OBSL1):c.4783C>T (p.Arg1595Ter) rs200174777
NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) rs140825693
NM_015311.3(OBSL1):c.5388G>C (p.Gln1796His) rs1298068212
NM_015311.3(OBSL1):c.5683+1G>C
NM_015335.5(MED13L):c.-9dup rs2138617119
NM_015335.5(MED13L):c.1388C>A (p.Ala463Asp) rs2137386497
NM_015335.5(MED13L):c.1390TCT[1] (p.Ser465del)
NM_015335.5(MED13L):c.1444A>G (p.Arg482Gly)
NM_015335.5(MED13L):c.4955+16A>T
NM_015338.6(ASXL1):c.3102A>T (p.Lys1034Asn)
NM_015338.6(ASXL1):c.3370C>G (p.Pro1124Ala)
NM_015346.4(ZFYVE26):c.443G>C (p.Arg148Pro) rs144919978
NM_015354.3(NUP188):c.2347A>G (p.Ile783Val)
NM_015355.4(SUZ12):c.1039G>A (p.Glu347Lys)
NM_015404.4(WHRN):c.1850C>T (p.Ser617Leu) rs150146590
NM_015409.5(EP400):c.1990A>G (p.Thr664Ala) rs1201953707
NM_015425.6(POLR1A):c.4244C>T (p.Ala1415Val)
NM_015426.5(POC1A):c.1126_1129delACAG
NM_015443.4(KANSL1):c.1290-3dup
NM_015443.4(KANSL1):c.1892C>G (p.Pro631Arg)
NM_015443.4(KANSL1):c.2906C>G (p.Pro969Arg) rs2077030679
NM_015443.4(KANSL1):c.3305C>A (p.Pro1102Gln)
NM_015459.5(ATL3):c.1582dup (p.Asp528fs)
NM_015465.5(GEMIN5):c.1802C>T (p.Ala601Val)
NM_015465.5(GEMIN5):c.3337A>G (p.Ser1113Gly)
NM_015466.4(PTPN23):c.2029G>A (p.Asp677Asn)
NM_015466.4(PTPN23):c.2038G>A (p.Ala680Thr)
NM_015466.4(PTPN23):c.4495C>T (p.Gln1499Ter)
NM_015474.4(SAMHD1):c.2T>A (p.Met1Lys) rs923362391
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_015474.4(SAMHD1):c.767A>C (p.Gln256Pro)
NM_015488.5(PNKD):c.458_465+1del rs1464135710
NM_015488.5(PNKD):c.585del (p.Ser196fs) rs761519363
NM_015488.5(PNKD):c.951G>A (p.Trp317Ter) rs2106298428
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro) rs756980496
NM_015506.3(MMACHC):c.763C>T (p.Pro255Ser) rs533256855
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015509.4(NECAP1):c.291G>T (p.Gln97His)
NM_015557.3(CHD5):c.*46+15G>A
NM_015557.3(CHD5):c.1411C>T (p.Arg471Trp)
NM_015557.3(CHD5):c.3627G>A (p.Met1209Ile)
NM_015557.3(CHD5):c.4336G>T (p.Ala1446Ser)
NM_015557.3(CHD5):c.4672C>G (p.Leu1558Val)
NM_015557.3(CHD5):c.5003-3delinsGA
NM_015557.3(CHD5):c.931G>T (p.Val311Leu)
NM_015559.3(SETBP1):c.1058A>G (p.Asp353Gly) rs559254343
NM_015559.3(SETBP1):c.2762A>G (p.His921Arg)
NM_015559.3(SETBP1):c.3957G>A (p.Met1319Ile) rs2145116923
NM_015559.3(SETBP1):c.4075A>G (p.Met1359Val)
NM_015559.3(SETBP1):c.4178C>T (p.Ser1393Phe)
NM_015559.3(SETBP1):c.4201C>G (p.Arg1401Gly)
NM_015559.3(SETBP1):c.4528G>C (p.Glu1510Gln)
NM_015559.3(SETBP1):c.923G>A (p.Cys308Tyr)
NM_015570.4(AUTS2):c.2584_2585delinsTT (p.Pro862Leu)
NM_015570.4(AUTS2):c.2734_2739dup (p.Lys912_Glu913dup) rs1554488624
NM_015602.4(TOR1AIP1):c.323C>G (p.Ser108Cys)
NM_015627.3(LDLRAP1):c.*6C>T
NM_015627.3(LDLRAP1):c.122C>A (p.Thr41Lys)
NM_015627.3(LDLRAP1):c.231+3G>A
NM_015627.3(LDLRAP1):c.232-13G>C
NM_015627.3(LDLRAP1):c.337A>G (p.Ile113Val)
NM_015627.3(LDLRAP1):c.374A>T (p.His125Leu)
NM_015627.3(LDLRAP1):c.458T>C (p.Met153Thr)
NM_015627.3(LDLRAP1):c.48C>G (p.Ser16Arg) rs2043858170
NM_015627.3(LDLRAP1):c.502G>A (p.Ala168Thr)
NM_015627.3(LDLRAP1):c.601C>G (p.Pro201Ala)
NM_015627.3(LDLRAP1):c.601_604delinsGCCC (p.Pro201_Ser202delinsAlaPro)
NM_015627.3(LDLRAP1):c.602C>G (p.Pro201Arg)
NM_015627.3(LDLRAP1):c.616+12C>T
NM_015627.3(LDLRAP1):c.617-14C>G rs146324847
NM_015627.3(LDLRAP1):c.626C>G (p.Thr209Ser)
NM_015627.3(LDLRAP1):c.67G>C (p.Gly23Arg)
NM_015627.3(LDLRAP1):c.705G>C (p.Glu235Asp)
NM_015627.3(LDLRAP1):c.733A>G (p.Ser245Gly) rs2044408614
NM_015627.3(LDLRAP1):c.782G>A (p.Arg261Lys)
NM_015627.3(LDLRAP1):c.79C>T (p.Arg27Trp)
NM_015627.3(LDLRAP1):c.88+15G>T
NM_015631.6(TCTN3):c.1561C>T (p.Arg521Ter)
NM_015656.2(KIF26A):c.4676C>T (p.Ala1559Val)
NM_015656.2(KIF26A):c.5297C>T (p.Pro1766Leu)
NM_015665.6(AAAS):c.1639dup (p.Ter547LeuextTer?)
NM_015665.6(AAAS):c.170C>T (p.Thr57Ile) rs773065657
NM_015665.6(AAAS):c.387C>A (p.Phe129Leu) rs780649615
NM_015681.6(B9D1):c.505CTC[1] (p.Leu170del)
NM_015713.5(RRM2B):c.48+188del rs758091261
NM_015721.3(GEMIN4):c.1852C>T (p.Pro618Ser)
NM_015721.3(GEMIN4):c.803A>G (p.Lys268Arg)
NM_015726.4(DCAF8):c.1684C>T (p.Arg562Ter)
NM_015726.4(DCAF8):c.1726T>C (p.Ser576Pro)
NM_015726.4(DCAF8):c.959+4A>C
NM_015895.5(GMNN):c.626T>C (p.Ile209Thr)
NM_015898.4(ZBTB7A):c.807del (p.Asn269fs)
NM_015909.4(NBAS):c.1361C>G (p.Pro454Arg)
NM_015909.4(NBAS):c.180A>C (p.Leu60Phe) rs761264279
NM_015909.4(NBAS):c.287+6G>C rs577292051
NM_015909.4(NBAS):c.603_605del (p.Leu202del) rs796065038
NM_015909.4(NBAS):c.703_705del (p.Tyr235del) rs774017689
NM_015909.4(NBAS):c.7093C>T (p.Arg2365Cys)
NM_015922.3(NSDHL):c.1037C>A (p.Ala346Asp)
NM_015922.3(NSDHL):c.529A>G (p.Ile177Val)
NM_015922.3(NSDHL):c.901T>A (p.Tyr301Asn) rs144110486
NM_015932.6(POMP):c.163-5del rs2137795105
NM_015937.6(PIGT):c.1570A>T (p.Met524Leu)
NM_015959.4(TMX2):c.818A>G (p.Asn273Ser)
NM_015981.4(CAMK2A):c.1060A>G (p.Thr354Ala)
NM_015981.4(CAMK2A):c.1467-7C>G
NM_015981.4(CAMK2A):c.273-6C>T
NM_016030.6(TRAPPC12):c.1963G>C (p.Val655Leu)
NM_016032.4(ZDHHC9):c.949A>T (p.Thr317Ser) rs1927624839
NM_016042.4(EXOSC3):c.17C>G (p.Ser6Cys) rs749691951
NM_016042.4(EXOSC3):c.545A>T (p.Asp182Val)
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val) rs754046728
NM_016042.4(EXOSC3):c.673dup (p.Tyr225fs)
NM_016042.4(EXOSC3):c.85C>T (p.Leu29Phe) rs1828677509
NM_016058.5(TPRKB):c.420_423del (p.Met140fs)
NM_016111.4(TELO2):c.1826G>T (p.Arg609Leu)
NM_016111.4(TELO2):c.466C>G (p.Leu156Val)
NM_016120.4(RLIM):c.485G>A (p.Arg162His)
NM_016138.5(COQ7):c.507G>C (p.Gln169His)
NM_016139.4(CHCHD2):c.115C>A (p.Pro39Thr)
NM_016139.4(CHCHD2):c.151C>T (p.Arg51Trp)
NM_016156.6(MTMR2):c.1610C>T (p.Thr537Ile)
NM_016180.5(SLC45A2):c.328G>C (p.Gly110Arg)
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys) rs2151024095
NM_016203.4(PRKAG2):c.1399+8T>C rs750475269
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del) rs1002236859
NM_016218.6(POLK):c.2207_2208del (p.Ser735_Phe736insTer)
NM_016239.4(MYO15A):c.4828G>A (p.Glu1610Lys)
NM_016239.4(MYO15A):c.8552C>T (p.Ala2851Val)
NM_016239.4(MYO15A):c.8896G>A (p.Gly2966Ser) rs753596096
NM_016263.4(FZR1):c.826G>A (p.Ala276Thr)
NM_016277.5(RAB23):c.1A>C (p.Met1Leu)
NM_016277.5(RAB23):c.83G>A (p.Arg28Gln)
NM_016284.5(CNOT1):c.1585-14del
NM_016284.5(CNOT1):c.1624A>G (p.Met542Val)
NM_016284.5(CNOT1):c.225T>G (p.Ile75Met)
NM_016284.5(CNOT1):c.326C>A (p.Pro109His)
NM_016333.4(SRRM2):c.7240C>T (p.Pro2414Ser)
NM_016335.6(PRODH):c.1A>G (p.Met1Val) rs1036292619
NM_016335.6(PRODH):c.733C>T (p.Leu245=)
NM_016343.4(CENPF):c.1090C>G (p.Leu364Val)
NM_016343.4(CENPF):c.40A>G (p.Thr14Ala)
NM_016363.5(GP6):c.*531T>C
NM_016363.5(GP6):c.932CCCTCCCGC[1] (p.308PLP[2])
NM_016373.4(WWOX):c.*134C>T
NM_016373.4(WWOX):c.1165C>T (p.Gln389Ter) rs1484856529
NM_016373.4(WWOX):c.766A>T (p.Ile256Phe) rs1023419687
NM_016408.4(CDK5RAP1):c.1107+5G>A rs759907757
NM_016464.5(TMEM138):c.415G>T (p.Val139Leu) rs141029883
NM_016529.6(ATP8A2):c.1185+5G>T
NM_016529.6(ATP8A2):c.2449_2451del (p.Leu817del) rs1566119701
NM_016589.4(TIMMDC1):c.814del (p.Leu272fs) rs750461248
NM_016604.4(KDM3B):c.3398C>A (p.Ser1133Tyr)
NM_016604.4(KDM3B):c.3761C>G (p.Pro1254Arg)
NM_016604.4(KDM3B):c.583C>A (p.Pro195Thr)
NM_016604.4(KDM3B):c.92C>T (p.Ala31Val)
NM_016628.5(WAC):c.451C>G (p.Arg151Gly) rs886041614
NM_016628.5(WAC):c.611-3A>C
NM_016628.5(WAC):c.970A>T (p.Thr324Ser)
NM_016653.3(MAP3K20):c.1894C>T (p.Gln632Ter)
NM_016824.5(ADD3):c.1733-1G>A
NM_016938.5(EFEMP2):c.-7-12A>G
NM_016938.5(EFEMP2):c.311A>G (p.Gln104Arg)
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) rs376350227
NM_016938.5(EFEMP2):c.781G>A (p.Glu261Lys)
NM_016953.4(PDE11A):c.2611G>C (p.Glu871Gln)
NM_016955.4(SEPSECS):c.114+5C>T
NM_017414.4(USP18):c.220G>A (p.Val74Ile)
NM_017491.5(WDR1):c.605A>C (p.Asn202Thr)
NM_017514.5(PLXNA3):c.1540C>T (p.Arg514Ter)
NM_017534.6(MYH2):c.4572A>C (p.Glu1524Asp) rs1243834294
NM_017547.4(FOXRED1):c.1384C>T (p.Gln462Ter)
NM_017547.4(FOXRED1):c.1403C>G (p.Pro468Arg) rs142489681
NM_017556.4(FBLIM1):c.113G>A (p.Arg38Gln)
NM_017563.5(IL17RD):c.31T>G (p.Phe11Val)
NM_017613.4(DONSON):c.965-13G>A
NM_017617.5(NOTCH1):c.2527G>A (p.Glu843Lys) rs750170645
NM_017617.5(NOTCH1):c.3326-12C>T
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys)
NM_017649.5(CNNM2):c.2019A>C (p.Glu673Asp)
NM_017649.5(CNNM2):c.2299C>T (p.Arg767Trp)
NM_017649.5(CNNM2):c.415G>T (p.Ala139Ser)
NM_017654.4(SAMD9):c.3000T>A (p.Tyr1000Ter) rs1428124013
NM_017654.4(SAMD9):c.3402G>A (p.Trp1134Ter)
NM_017654.4(SAMD9):c.4270C>G (p.Leu1424Val)
NM_017654.4(SAMD9):c.4276T>C (p.Tyr1426His)
NM_017667.4(VPS50):c.1361+1G>T
NM_017668.3(NDE1):c.948-7057G>A rs371348553
NM_017672.6(TRPM7):c.1504C>A (p.Pro502Thr)
NM_017672.6(TRPM7):c.1609T>C (p.Tyr537His)
NM_017672.6(TRPM7):c.4333_4334del (p.Arg1444_Asp1445insTer) rs2059433712
NM_017672.6(TRPM7):c.4396A>G (p.Asn1466Asp)
NM_017672.6(TRPM7):c.4557+18A>G
NM_017672.6(TRPM7):c.5156T>C (p.Val1719Ala)
NM_017672.6(TRPM7):c.590G>A (p.Arg197Gln)
NM_017721.5(CC2D1A):c.1610C>T (p.Ser537Leu)
NM_017739.4(POMGNT1):c.164T>G (p.Ile55Ser) rs2148219221
NM_017739.4(POMGNT1):c.1943dup (p.Glu650fs) rs1557668503
NM_017739.4(POMGNT1):c.293T>A (p.Val98Asp) rs1571669565
NM_017739.4(POMGNT1):c.452C>A (p.Thr151Lys) rs886044363
NM_017757.3(ZNF407):c.266A>G (p.Gln89Arg)
NM_017760.7(NCAPG2):c.1004T>G (p.Leu335Arg)
NM_017760.7(NCAPG2):c.1088C>T (p.Pro363Leu)
NM_017760.7(NCAPG2):c.2723G>A (p.Arg908Gln)
NM_017760.7(NCAPG2):c.79-4A>G
NM_017777.4(MKS1):c.1531_1534del (p.Ser511fs) rs1555596710
NM_017777.4(MKS1):c.1572del (p.Ile525fs)
NM_017777.4(MKS1):c.763G>A (p.Gly255Arg) rs201237547
NM_017780.4(CHD7):c.1068C>G (p.Asn356Lys)
NM_017780.4(CHD7):c.3566G>A (p.Arg1189His) rs1554599432
NM_017780.4(CHD7):c.5126A>T (p.Asp1709Val) rs768971850
NM_017780.4(CHD7):c.5765G>A (p.Arg1922His)
NM_017780.4(CHD7):c.973A>C (p.Asn325His) rs1563561089
NM_017819.4(TRMT10C):c.775_778del (p.Val259fs)
NM_017841.4(SDHAF2):c.370+2T>C rs770444026
NM_017864.4(INTS8):c.2210G>A (p.Gly737Asp)
NM_017864.4(INTS8):c.736G>A (p.Glu246Lys)
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe) rs777921628
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.507CTA[1] (p.Tyr172del)
NM_017917.4(PPP2R3C):c.713_714del (p.Ile238fs)
NM_017934.7(PHIP):c.1505T>C (p.Ile502Thr)
NM_017934.7(PHIP):c.2072G>T (p.Arg691Leu)
NM_017934.7(PHIP):c.440-15T>C
NM_017934.7(PHIP):c.5019_5020insG (p.Leu1674fs)
NM_018006.5(TRMU):c.1073_1081dup (p.Gln358_Val360dup) rs753112330
NM_018006.5(TRMU):c.522CTT[1] (p.Phe176del) rs762710723
NM_018006.5(TRMU):c.554T>C (p.Leu185Pro)
NM_018006.5(TRMU):c.77_82+16dup
NM_018026.4(PACS1):c.1138G>A (p.Asp380Asn) rs940755396
NM_018026.4(PACS1):c.1339A>T (p.Asn447Tyr) rs1855491969
NM_018026.4(PACS1):c.1994-7C>T
NM_018026.4(PACS1):c.357-4C>T
NM_018026.4(PACS1):c.875G>T (p.Ser292Ile)
NM_018052.5(VAC14):c.947-2A>G
NM_018062.4(FANCL):c.*102_*105dup
NM_018062.4(FANCL):c.49C>T (p.Pro17Ser) rs2104081877
NM_018063.5(HELLS):c.41C>A (p.Ala14Asp) rs1842754714
NM_018077.3(RBM28):c.2098C>T (p.Gln700Ter)
NM_018100.4(EFHC1):c.917-16C>T
NM_018112.3(TMEM38B):c.3G>A (p.Met1Ile)
NM_018116.4(MSTO1):c.44A>G (p.His15Arg) rs926774989
NM_018117.12(WDR11):c.2144G>C (p.Cys715Ser)
NM_018249.6(CDK5RAP2):c.4039_4041delinsGTA (p.Leu1347Val) rs1554734754
NM_018263.6(ASXL2):c.*10A>G
NM_018263.6(ASXL2):c.1529C>T (p.Ser510Phe)
NM_018263.6(ASXL2):c.3839A>T (p.Lys1280Met)
NM_018263.6(ASXL2):c.4170G>C (p.Glu1390Asp)
NM_018294.6(CWF19L1):c.1037G>T (p.Gly346Val)
NM_018297.4(NGLY1):c.1612-34A>G
NM_018297.4(NGLY1):c.544G>C (p.Val182Leu) rs981738620
NM_018328.5:c.(-925+1_-924-1)_(-831+1_-830-1)del
NM_018367.7(ACER3):c.227G>A (p.Gly76Glu) rs1947914876
NM_018392.5(ZGRF1):c.5089A>G (p.Thr1697Ala)
NM_018418.5(SPATA7):c.1249G>C (p.Val417Leu) rs1353547274
NM_018418.5(SPATA7):c.1582del (p.Ser528fs)
NM_018418.5(SPATA7):c.55C>G (p.Pro19Ala) rs2075741859
NM_018486.3(HDAC8):c.433A>G (p.Lys145Glu) rs2051860492
NM_018489.3(ASH1L):c.179C>T (p.Ala60Val)
NM_018489.3(ASH1L):c.5337C>G (p.Ile1779Met)
NM_018489.3(ASH1L):c.5603A>C (p.Gln1868Pro) rs1040483514
NM_018489.3(ASH1L):c.5842C>T (p.Pro1948Ser)
NM_018489.3(ASH1L):c.8392C>G (p.Pro2798Ala)
NM_018489.3(ASH1L):c.8460+11T>C
NM_018558.4(GABRQ):c.1618_1619del (p.Lys540fs) rs1931070303
NM_018668.5(VPS33B):c.239A>G (p.Gln80Arg)
NM_018668.5(VPS33B):c.701-7_701-6del
NM_018668.5(VPS33B):c.728C>T (p.Ser243Phe)
NM_018669.6(WDR4):c.441G>A (p.Met147Ile) rs910873595
NM_018676.4(THSD1):c.1996C>T (p.Arg666Ter)
NM_018684.4(ZC4H2):c.470C>T (p.Ala157Val)
NM_018684.4(ZC4H2):c.502G>A (p.Ala168Thr)
NM_018699.4(PRDM5):c.3G>T (p.Met1Ile) rs1725110495
NM_018699.4(PRDM5):c.414G>T (p.Met138Ile) rs776045160
NM_018706.7(DHTKD1):c.1390G>A (p.Glu464Lys)
NM_018706.7(DHTKD1):c.1906A>G (p.Ser636Gly)
NM_018706.7(DHTKD1):c.2659-3_2659-2del rs761529786
NM_018706.7(DHTKD1):c.562A>G (p.Lys188Glu)
NM_018706.7(DHTKD1):c.915G>C (p.Gln305His)
NM_018834.6(MATR3):c.-16_-15del
NM_018838.5(NDUFA12):c.305del (p.Pro102fs)
NM_018896.5(CACNA1G):c.1796C>T (p.Pro599Leu)
NM_018896.5(CACNA1G):c.2454-19C>A
NM_018896.5(CACNA1G):c.3065-8C>T
NM_018896.5(CACNA1G):c.3361C>T (p.Arg1121Trp)
NM_018896.5(CACNA1G):c.3721C>T (p.Arg1241Ter) rs1288005196
NM_018896.5(CACNA1G):c.4421A>T (p.Gln1474Leu)
NM_018896.5(CACNA1G):c.4735G>A (p.Gly1579Ser)
NM_018896.5(CACNA1G):c.6386C>A (p.Pro2129Gln)
NM_018896.5(CACNA1G):c.6692del (p.Pro2231fs)
NM_018897.3(DNAH7):c.7208_7212del (p.Ile2403fs) rs759286413
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu) rs386834134
NM_018941.4(CLN8):c.631A>G (p.Met211Val) rs745785480
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
NM_018943.3(TUBA8):c.817G>A (p.Ala273Thr)
NM_018965.4(TREM2):c.22A>T (p.Ile8Phe)
NM_018965.4(TREM2):c.41-20AATG[3]
NM_018972.4(GDAP1):c.1038C>G (p.Ser346Arg)
NM_018972.4(GDAP1):c.25A>G (p.Arg9Gly)
NM_018972.4(GDAP1):c.345C>G (p.Ser115Arg)
NM_018972.4(GDAP1):c.348G>A (p.Met116Ile)
NM_018972.4(GDAP1):c.524C>G (p.Ala175Gly)
NM_018979.4(WNK1):c.3263C>T (p.Ser1088Phe)
NM_018979.4(WNK1):c.5684T>C (p.Leu1895Pro)
NM_018979.4(WNK1):c.6935C>G (p.Ser2312Cys)
NM_018993.4(RIN2):c.842G>C (p.Ser281Thr)
NM_019042.5(PUS7):c.788A>C (p.Tyr263Ser)
NM_019066.5(MAGEL2):c.1922C>T (p.Pro641Leu)
NM_019066.5(MAGEL2):c.2705C>A (p.Thr902Lys)
NM_019066.5(MAGEL2):c.3076G>T (p.Ala1026Ser)
NM_019066.5(MAGEL2):c.3118C>T (p.Pro1040Ser)
NM_019066.5(MAGEL2):c.3544T>A (p.Phe1182Ile) rs2140711896
NM_019074.4(DLL4):c.1336C>A (p.Arg446Ser) rs751873412
NM_019098.5(CNGB3):c.2103+3A>G
NM_019109.5(ALG1):c.1393dup (p.Ter465LeuextTer?)
NM_019109.5(ALG1):c.[212C>T;221A>T]
NM_019112.4(ABCA7):c.2535dup (p.Gly846fs) rs1487739224
NM_019112.4(ABCA7):c.3397G>C (p.Gly1133Arg)
NM_019112.4(ABCA7):c.5139T>G (p.Phe1713Leu)
NM_019112.4(ABCA7):c.6122A>C (p.Glu2041Ala) rs574674874
NM_019616.4(F7):c.185T>C (p.Phe62Ser)
NM_019616.4(F7):c.742G>A (p.Glu248Lys)
NM_019616.4(F7):c.748G>A (p.Asp250Asn)
NM_019616.4(F7):c.838G>A (p.Asp280Asn)
NM_019842.4(KCNQ5):c.*11_*12del
NM_019842.4(KCNQ5):c.1358C>T (p.Thr453Ile) rs2150457602
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) rs863225200
NM_019892.6(INPP5E):c.1905_1906del (p.Asn636fs) rs2131604074
NM_019892.6(INPP5E):c.485C>G (p.Ser162Cys) rs2131618652
NM_020066.5(FMN2):c.3149C>T (p.Ala1050Val)
NM_020117.11(LARS1):c.1283C>T (p.Pro428Leu)
NM_020117.11(LARS1):c.1834G>A (p.Gly612Arg)
NM_020117.11(LARS1):c.2130CCT[1] (p.Leu712del)
NM_020117.11(LARS1):c.3240C>G (p.His1080Gln)
NM_020134.4(DPYSL5):c.312C>A (p.Asp104Glu)
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro) rs755328329
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val) rs565662458
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys) rs1057520695
NM_020166.5(MCCC1):c.221_222delinsCC (p.Gln74Pro)
NM_020191.4(MRPS22):c.878+2dup
NM_020223.4(FAM20C):c.145G>A (p.Ala49Thr)
NM_020247.5(COQ8A):c.1806dup (p.Pro603fs)
NM_020297.4(ABCC9):c.1006A>G (p.Thr336Ala)
NM_020297.4(ABCC9):c.143-1G>C
NM_020297.4(ABCC9):c.1456-10del rs763459861
NM_020297.4(ABCC9):c.233C>T (p.Ala78Val) rs1253372454
NM_020297.4(ABCC9):c.23ACA[1] (p.Asn9del) rs1949499149
NM_020297.4(ABCC9):c.2914A>T (p.Arg972Trp) rs1565731883
NM_020297.4(ABCC9):c.3076A>G (p.Asn1026Asp) rs369389402
NM_020297.4(ABCC9):c.3669+4C>T rs189565793
NM_020297.4(ABCC9):c.3868T>C (p.Ser1290Pro)
NM_020297.4(ABCC9):c.4103-1G>A rs1189432427
NM_020297.4(ABCC9):c.4112T>G (p.Val1371Gly)
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4512+826C>T rs2137103904
NM_020297.4(ABCC9):c.907T>C (p.Phe303Leu)
NM_020320.5(RARS2):c.1037C>T (p.Thr346Ile) rs1773402352
NM_020320.5(RARS2):c.213+4C>T
NM_020320.5(RARS2):c.488A>G (p.His163Arg) rs1260340118
NM_020320.5(RARS2):c.536-5G>A rs1781141008
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
NM_020320.5(RARS2):c.878+3A>G
NM_020338.4(ZMIZ1):c.1534G>A (p.Val512Ile)
NM_020338.4(ZMIZ1):c.2749G>A (p.Gly917Arg)
NM_020338.4(ZMIZ1):c.770G>A (p.Gly257Asp) rs1472157297
NM_020361.5(CPA6):c.1072C>A (p.Leu358Ile)
NM_020361.5(CPA6):c.192G>C (p.Lys64Asn)
NM_020365.5(EIF2B3):c.1A>C (p.Met1Leu) rs2148965825
NM_020365.5(EIF2B3):c.284C>T (p.Pro95Leu) rs778945531
NM_020365.5(EIF2B3):c.407A>C (p.Gln136Pro) rs113994023
NM_020366.4(RPGRIP1):c.3358A>C (p.Ile1120Leu) rs137853911
NM_020366.4(RPGRIP1):c.3835_3837del (p.Glu1279del) rs281865293
NM_020381.4(PDSS2):c.1045C>T (p.Arg349Ter) rs370370070
NM_020401.4(NUP107):c.2670+1G>A
NM_020401.4(NUP107):c.2673A>G (p.Val891=)
NM_020433.5(JPH2):c.-4T>A
NM_020433.5(JPH2):c.502A>C (p.Ser168Arg) rs869025439
NM_020436.5(SALL4):c.2803A>G (p.Ile935Val)
NM_020436.5(SALL4):c.526G>A (p.Val176Met)
NM_020442.6(VARS2):c.*6C>T
NM_020442.6(VARS2):c.100C>G (p.Pro34Ala)
NM_020451.3(SELENON):c.1730T>C (p.Leu577Pro)
NM_020451.3(SELENON):c.1772A>G (p.Ter591Trp) rs2124456999
NM_020458.4(TTC7A):c.1802+3G>C rs1572961263
NM_020458.4(TTC7A):c.2387G>A (p.Ser796Asn) rs1684976086
NM_020533.3(MCOLN1):c.1701C>A (p.Cys567Ter) rs765975281
NM_020533.3(MCOLN1):c.1704A>T (p.Gly568=) rs751298168
NM_020533.3(MCOLN1):c.571+17A>T rs2146022957
NM_020549.5(CHAT):c.1069G>C (p.Gly357Arg)
NM_020549.5(CHAT):c.196_198delinsGG (p.Arg66fs)
NM_020549.5(CHAT):c.2209del (p.Glu737fs)
NM_020549.5(CHAT):c.58del (p.Glu20fs)
NM_020549.5(CHAT):c.59_60del (p.Glu20fs) rs531450737
NM_020549.5(CHAT):c.605T>C (p.Met202Thr)
NM_020549.5(CHAT):c.6del (p.Gly2_Leu3insTer) rs1838384543
NM_020632.3(ATP6V0A4):c.1342G>A (p.Gly448Arg)
NM_020632.3(ATP6V0A4):c.1418C>T (p.Ser473Phe)
NM_020632.3(ATP6V0A4):c.2521T>C (p.Ter841Gln) rs2117166318
NM_020638.3(FGF23):c.470T>A (p.Phe157Tyr)
NM_020638.3(FGF23):c.688G>A (p.Gly230Ser)
NM_020638.3(FGF23):c.70G>A (p.Ala24Thr)
NM_020638.3(FGF23):c.725A>G (p.Glu242Gly)
NM_020655.4(JPH3):c.434G>A (p.Arg145Gln)
NM_020655.4(JPH3):c.524C>T (p.Thr175Met)
NM_020686.6(ABAT):c.1034G>A (p.Gly345Asp) rs2142996825
NM_020699.4(GATAD2B):c.1518T>G (p.His506Gln)
NM_020699.4(GATAD2B):c.899C>G (p.Pro300Arg)
NM_020708.5(SLC12A5):c.1447T>C (p.Ser483Pro) rs2084581427
NM_020708.5(SLC12A5):c.280-6T>G
NM_020717.5(SHROOM4):c.1628C>T (p.Thr543Ile)
NM_020717.5(SHROOM4):c.239C>T (p.Ser80Phe) rs2147456128
NM_020719.3(PRR12):c.4945T>C (p.Phe1649Leu)
NM_020738.4(KIDINS220):c.1184G>A (p.Arg395Gln)
NM_020738.4(KIDINS220):c.1858A>G (p.Thr620Ala)
NM_020738.4(KIDINS220):c.3007G>A (p.Glu1003Lys)
NM_020738.4(KIDINS220):c.3374A>G (p.Tyr1125Cys) rs1667135480
NM_020745.4(AARS2):c.1289A>G (p.Asp430Gly)
NM_020754.4(ARHGAP31):c.1847G>A (p.Arg616Gln)
NM_020754.4(ARHGAP31):c.2785G>A (p.Ala929Thr)
NM_020754.4(ARHGAP31):c.3147C>A (p.His1049Gln)
NM_020754.4(ARHGAP31):c.3343A>G (p.Ile1115Val)
NM_020754.4(ARHGAP31):c.3659G>A (p.Ser1220Asn)
NM_020754.4(ARHGAP31):c.4088C>T (p.Ser1363Leu)
NM_020754.4(ARHGAP31):c.4222A>T (p.Lys1408Ter)
NM_020774.4(MIB1):c.229+7C>G
NM_020778.5(ALPK3):c.3464C>T (p.Thr1155Ile)
NM_020778.5(ALPK3):c.423-19del rs537375112
NM_020778.5(ALPK3):c.4501A>G (p.Ile1501Val)
NM_020821.3(VPS13C):c.1009C>G (p.Gln337Glu)
NM_020821.3(VPS13C):c.3709T>G (p.Phe1237Val)
NM_020821.3(VPS13C):c.5653A>C (p.Asn1885His) rs757119917
NM_020822.3(KCNT1):c.3679C>G (p.Pro1227Ala)
NM_020822.3(KCNT1):c.86T>G (p.Phe29Cys)
NM_020922.5(WNK3):c.3665A>C (p.Asp1222Ala)
NM_020928.2(ZSWIM6):c.214C>G (p.Gln72Glu)
NM_020928.2(ZSWIM6):c.26C>T (p.Pro9Leu)
NM_020928.2(ZSWIM6):c.677-4C>G
NM_020949.3(SLC7A14):c.1168G>C (p.Val390Leu) rs142416793
NM_020971.3(SPTBN4):c.4144C>T (p.Arg1382Trp)
NM_020971.3(SPTBN4):c.5290-16C>A
NM_020971.3(SPTBN4):c.6017G>A (p.Arg2006Gln)
NM_020975.6(RET):c.*6C>G
NM_020975.6(RET):c.1196C>T (p.Pro399Leu) rs1554818362
NM_020975.6(RET):c.1893C>A (p.Asp631Glu) rs55846256
NM_020975.6(RET):c.2198G>A (p.Gly733Asp) rs1564497340
NM_020975.6(RET):c.2711C>G (p.Ser904Cys) rs267607011
NM_020975.6(RET):c.792C>G (p.Asp264Glu) rs1564491360
NM_020987.5(ANK3):c.10783A>G (p.Thr3595Ala) rs748256287
NM_020988.3(GNAO1):c.594-15C>A rs747946596
NM_021008.4(DEAF1):c.1210G>T (p.Ala404Ser)
NM_021008.4(DEAF1):c.527C>A (p.Ser176Tyr)
NM_021008.4(DEAF1):c.73G>A (p.Val25Met)
NM_021023.6(CFHR3):c.106G>T (p.Glu36Ter)
NM_021023.6(CFHR3):c.356G>C (p.Gly119Ala)
NM_021023.6(CFHR3):c.796+1G>A
NM_021023.6(CFHR3):c.839_840del (p.Ile280fs) rs781400776
NM_021023.6(CFHR3):c.841_842del (p.Lys281fs)
NM_021076.4(NEFH):c.1379A>G (p.Gln460Arg)
NM_021076.4(NEFH):c.1462G>C (p.Gly488Arg)
NM_021076.4(NEFH):c.459G>T (p.Met153Ile)
NM_021098.3(CACNA1H):c.1516C>G (p.Arg506Gly) rs58593315
NM_021098.3(CACNA1H):c.1918C>G (p.Pro640Ala)
NM_021098.3(CACNA1H):c.280C>G (p.Leu94Val)
NM_021098.3(CACNA1H):c.3466C>T (p.Arg1156Cys)
NM_021098.3(CACNA1H):c.3920A>G (p.Asn1307Ser) rs767633946
NM_021098.3(CACNA1H):c.5206C>T (p.Arg1736Cys) rs750143885
NM_021098.3(CACNA1H):c.770G>A (p.Arg257Gln)
NM_021116.4(ADCY1):c.1234C>A (p.Arg412Ser)
NM_021120.4(DLG3):c.351T>C (p.Tyr117=)
NM_021120.4(DLG3):c.82C>A (p.Pro28Thr)
NM_021120.4(DLG3):c.992C>T (p.Thr331Ile)
NM_021224.6(ZNF462):c.2496_2498dup (p.Glu832_Asn833insLys)
NM_021224.6(ZNF462):c.3798A>T (p.Lys1266Asn)
NM_021224.6(ZNF462):c.3803G>A (p.Arg1268Lys)
NM_021224.6(ZNF462):c.3859G>A (p.Asp1287Asn)
NM_021224.6(ZNF462):c.4733G>A (p.Arg1578Gln)
NM_021224.6(ZNF462):c.5313G>C (p.Leu1771Phe) rs2131512078
NM_021224.6(ZNF462):c.6536CTG[2] (p.Ala2181del)
NM_021615.5(CHST6):c.1001G>A (p.Arg334His)
NM_021615.5(CHST6):c.175C>T (p.Leu59Phe)
NM_021615.5(CHST6):c.455T>C (p.Leu152Pro)
NM_021615.5(CHST6):c.815G>A (p.Arg272His)
NM_021628.3(ALOXE3):c.1559_1562+3dup rs552323537
NM_021814.5(ELOVL5):c.889_890dup (p.Lys298fs)
NM_021815.5(SLC5A7):c.1726G>T (p.Glu576Ter)
NM_021830.5(TWNK):c.1954C>T (p.Pro652Ser) rs267602340
NM_021830.5(TWNK):c.2005G>C (p.Gly669Arg)
NM_021830.5(TWNK):c.2044C>T (p.Arg682Cys)
NM_021830.5(TWNK):c.209C>T (p.Pro70Leu)
NM_021830.5(TWNK):c.581G>A (p.Ser194Asn)
NM_021831.6(AGBL5):c.439C>T (p.Arg147Cys) rs144135243
NM_021870.3(FGG):c.1015A>G (p.Ser339Gly)
NM_021870.3(FGG):c.1130G>T (p.Gly377Val)
NM_021870.3(FGG):c.922G>A (p.Ala308Thr)
NM_021871.4(FGA):c.341G>A (p.Arg114Lys)
NM_021871.4(FGA):c.434T>A (p.Val145Asp)
NM_021871.4(FGA):c.908G>A (p.Gly303Glu)
NM_021913.5(AXL):c.995-6C>T
NM_021922.3(FANCE):c.71_72insGGG (p.Ala24_Pro25insGly) rs2150885556
NM_021922.3(FANCE):c.86T>A (p.Leu29Gln) rs2150885592
NM_021926.4(ALX4):c.154G>A (p.Ala52Thr)
NM_021927.3(GUF1):c.1351_1352del (p.Glu451fs) rs749030301
NM_021927.3(GUF1):c.1390_1394del (p.Lys465fs) rs770488789
NM_021927.3(GUF1):c.1527_1528insTATCATAATTGATCAAAATAGA (p.Val510delinsTyrHisAsnTer) rs773410288
NM_021927.3(GUF1):c.682_703delinsTCTAAA (p.Leu228fs)
NM_021927.3(GUF1):c.922C>T (p.Gln308Ter)
NM_021939.4(FKBP10):c.1244A>C (p.Gln415Pro) rs2144064339
NM_021942.6(TRAPPC11):c.185A>T (p.Tyr62Phe) rs2111290486
NM_021942.6(TRAPPC11):c.2125_2126insGAC (p.Asp709delinsGlyHis)
NM_021942.6(TRAPPC11):c.2825A>G (p.Asp942Gly) rs202094535
NM_021942.6(TRAPPC11):c.439C>T (p.Pro147Ser) rs1219699834
NM_021964.3(ZNF148):c.997T>G (p.Leu333Val)
NM_021999.5(ITM2B):c.238G>A (p.Ala80Thr)
NM_022081.6(HPS4):c.1330G>A (p.Glu444Lys)
NM_022081.6(HPS4):c.571G>A (p.Ala191Thr)
NM_022081.6(HPS4):c.706+176G>A
NM_022081.6(HPS4):c.851A>G (p.His284Arg)
NM_022089.4(ATP13A2):c.*207C>T
NM_022089.4(ATP13A2):c.3503_3516dup (p.Pro1173fs) rs779637529
NM_022089.4(ATP13A2):c.3535_3536del (p.Leu1179fs)
NM_022089.4(ATP13A2):c.3543G>T (p.Ter1181Tyr)
NM_022124.6(CDH23):c.1439T>A (p.Leu480Gln) rs767928788
NM_022124.6(CDH23):c.1888G>C (p.Glu630Gln) rs2132682527
NM_022124.6(CDH23):c.334G>C (p.Gly112Arg)
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.4364T>G (p.Val1455Gly) rs2132844035
NM_022124.6(CDH23):c.437C>T (p.Pro146Leu) rs765103490
NM_022124.6(CDH23):c.4747G>A (p.Gly1583Ser) rs775013186
NM_022124.6(CDH23):c.4829G>T (p.Gly1610Val) rs1839745979
NM_022124.6(CDH23):c.4845G>A (p.Ser1615=) rs542618168
NM_022124.6(CDH23):c.5237_5238delinsAT (p.Arg1746His)
NM_022124.6(CDH23):c.5247G>T (p.Glu1749Asp)
NM_022124.6(CDH23):c.5563C>T (p.Pro1855Ser)
NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) rs762118583
NM_022124.6(CDH23):c.6656A>T (p.Asp2219Val)
NM_022124.6(CDH23):c.7001C>T (p.Thr2334Ile) rs1841467615
NM_022124.6(CDH23):c.739G>A (p.Glu247Lys)
NM_022124.6(CDH23):c.8177C>T (p.Pro2726Leu)
NM_022124.6(CDH23):c.8891T>C (p.Ile2964Thr)
NM_022124.6(CDH23):c.9128G>C (p.Arg3043Pro)
NM_022124.6(CDH23):c.9199-4G>A rs369900526
NM_022124.6(CDH23):c.9721del (p.His3241fs) rs1842006730
NM_022124.6(CDH23):c.9726del (p.Ser3243fs) rs767176528
NM_022132.5(MCCC2):c.1052A>G (p.Tyr351Cys)
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.5(MCCC2):c.518C>G (p.Ser173Trp) rs752866557
NM_022132.5(MCCC2):c.557_560delinsTTGTCGAGGTAAGTGT (p.Pro186_Asp187delinsLeuValGluValSerVal) rs797044772
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) rs757389984
NM_022168.4(IFIH1):c.1988T>G (p.Leu663Ter) rs2105197464
NM_022168.4(IFIH1):c.2140A>G (p.Arg714Gly)
NM_022168.4(IFIH1):c.2485A>C (p.Thr829Pro)
NM_022168.4(IFIH1):c.2641A>G (p.Ile881Val) rs1169761887
NM_022356.4(P3H1):c.1080+3G>C
NM_022356.4(P3H1):c.1170G>A (p.Pro390=)
NM_022356.4(P3H1):c.1345G>A (p.Gly449Ser)
NM_022356.4(P3H1):c.808+5G>A rs368972030
NM_022369.4(STRA6):c.1037A>C (p.Glu346Ala)
NM_022436.3(ABCG5):c.1356G>C (p.Glu452Asp)
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile) rs72542426
NM_022436.3(ABCG5):c.143+15T>G
NM_022436.3(ABCG5):c.1670T>C (p.Ile557Thr)
NM_022436.3(ABCG5):c.185A>G (p.Gln62Arg)
NM_022436.3(ABCG5):c.1910T>C (p.Leu637Pro)
NM_022436.3(ABCG5):c.343G>A (p.Val115Met)
NM_022436.3(ABCG5):c.397C>G (p.Leu133Val)
NM_022436.3(ABCG5):c.39G>C (p.Met13Ile)
NM_022436.3(ABCG5):c.436G>C (p.Glu146Gln)
NM_022436.3(ABCG5):c.501+5G>A
NM_022436.3(ABCG5):c.619C>G (p.Leu207Val)
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr) rs770103215
NM_022436.3(ABCG5):c.905-3dup rs142037828
NM_022437.3(ABCG8):c.1061G>A (p.Arg354His) rs142346631
NM_022437.3(ABCG8):c.1114A>T (p.Thr372Ser)
NM_022437.3(ABCG8):c.1128-4C>T
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022437.3(ABCG8):c.1313A>G (p.His438Arg)
NM_022437.3(ABCG8):c.1412-9_1412-8delinsTT
NM_022437.3(ABCG8):c.1488+14G>T
NM_022437.3(ABCG8):c.165+16G>T
NM_022437.3(ABCG8):c.1756+16G>A
NM_022437.3(ABCG8):c.1757-15G>A
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)
NM_022437.3(ABCG8):c.561+18G>T
NM_022437.3(ABCG8):c.561+5C>G
NM_022437.3(ABCG8):c.562-8G>A
NM_022437.3(ABCG8):c.635G>A (p.Gly212Glu)
NM_022437.3(ABCG8):c.694+16G>A
NM_022437.3(ABCG8):c.866G>A (p.Gly289Asp) rs769842021
NM_022455.5(NSD1):c.2683A>C (p.Ser895Arg)
NM_022455.5(NSD1):c.2947G>A (p.Gly983Ser) rs373280032
NM_022455.5(NSD1):c.6502G>A (p.Gly2168Arg)
NM_022455.5(NSD1):c.6625G>C (p.Gly2209Arg)
NM_022455.5(NSD1):c.6845C>T (p.Pro2282Leu)
NM_022455.5(NSD1):c.6899C>G (p.Ala2300Gly)
NM_022455.5(NSD1):c.7870C>A (p.Pro2624Thr) rs1286859534
NM_022463.5(NXN):c.803G>A (p.Arg268Gln)
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
NM_022489.4(INF2):c.2240-16C>T
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala) rs377340315
NM_022489.4(INF2):c.3698T>C (p.Val1233Ala)
NM_022489.4(INF2):c.565G>A (p.Asp189Asn) rs753287786
NM_022575.4(VPS16):c.737G>A (p.Gly246Glu)
NM_022575.4(VPS16):c.775T>C (p.Cys259Arg)
NM_022725.4(FANCF):c.-7G>T
NM_022725.4(FANCF):c.654_655del (p.Gln219fs)
NM_022765.4(MICAL1):c.2305-3C>T
NM_022770.4(GINS3):c.287G>C (p.Trp96Ser) rs1334583313
NM_022772.4(EPS8L2):c.1342-19T>C
NM_022834.5(VWA1):c.1275GCGCCC[3] (p.Pro431_Val432insArgPro)
NM_022835.3(PLEKHG2):c.1899del (p.Ile635fs)
NM_022835.3(PLEKHG2):c.2571_2572del (p.Cys858fs)
NM_022835.3(PLEKHG2):c.3326C>T (p.Thr1109Ile)
NM_022835.3(PLEKHG2):c.3329C>A (p.Ser1110Ter)
NM_022835.3(PLEKHG2):c.4085C>T (p.Ala1362Val)
NM_022835.3(PLEKHG2):c.929C>T (p.Ala310Val)
NM_022841.7(RFX7):c.2098C>T (p.Pro700Ser)
NM_022841.7(RFX7):c.2176A>G (p.Ile726Val)
NM_022841.7(RFX7):c.35A>G (p.Gln12Arg)
NM_022893.4(BCL11A):c.-13C>T rs1318872521
NM_022893.4(BCL11A):c.1533G>A (p.Val511=)
NM_022893.4(BCL11A):c.1595C>G (p.Ala532Gly)
NM_022893.4(BCL11A):c.488-1G>A
NM_022915.5(MRPL44):c.786del (p.Gly263fs)
NM_023110.3(FGFR1):c.-88-3566dup rs1424371425
NM_023110.3(FGFR1):c.1328T>C (p.Leu443Pro)
NM_023110.3(FGFR1):c.1552T>G (p.Ser518Ala)
NM_023110.3(FGFR1):c.2051G>C (p.Trp684Ser)
NM_023110.3(FGFR1):c.2393A>G (p.His798Arg)
NM_023110.3(FGFR1):c.421A>G (p.Thr141Ala) rs1315551279
NM_024009.3(GJB3):c.196_198del (p.Asp66del) rs786200895
NM_024120.5(NDUFAF5):c.145C>G (p.Arg49Gly) rs377078447
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024120.5(NDUFAF5):c.827G>A (p.Arg276Gln)
NM_024120.5(NDUFAF5):c.965G>C (p.Gly322Ala)
NM_024301.5(FKRP):c.155T>A (p.Leu52Gln) rs2054892463
NM_024301.5(FKRP):c.280C>T (p.Pro94Ser)
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295
NM_024312.5(GNPTAB):c.1144A>G (p.Thr382Ala)
NM_024312.5(GNPTAB):c.1847C>T (p.Thr616Met)
NM_024312.5(GNPTAB):c.202C>T (p.Arg68Trp) rs531738916
NM_024312.5(GNPTAB):c.229G>C (p.Val77Leu) rs985184620
NM_024312.5(GNPTAB):c.229GTT[1] (p.Val78del) rs281864952
NM_024312.5(GNPTAB):c.571+6A>G
NM_024334.3(TMEM43):c.1019T>G (p.Phe340Cys) rs1559363663
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val) rs193922706
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe) rs193922706
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.3(TMEM43):c.442+19dup rs768508021
NM_024334.3(TMEM43):c.64C>T (p.Gln22Ter) rs1695063853
NM_024334.3(TMEM43):c.743T>G (p.Leu248Arg) rs774356401
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr) rs771028028
NM_024334.3(TMEM43):c.883-15C>G
NM_024407.5(NDUFS7):c.125C>G (p.Thr42Ser)
NM_024408.4(NOTCH2):c.1109-14C>T
NM_024408.4(NOTCH2):c.2677G>A (p.Gly893Ser) rs782108690
NM_024408.4(NOTCH2):c.3011A>G (p.Asp1004Gly)
NM_024408.4(NOTCH2):c.4202A>G (p.Gln1401Arg) rs2101162597
NM_024408.4(NOTCH2):c.4273T>C (p.Cys1425Arg)
NM_024408.4(NOTCH2):c.5705A>G (p.Asp1902Gly)
NM_024408.4(NOTCH2):c.7046C>T (p.Pro2349Leu)
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1238A>T (p.Asn413Ile)
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser) rs201480399
NM_024422.6(DSC2):c.1436G>A (p.Arg479His) rs774641579
NM_024422.6(DSC2):c.1436G>C (p.Arg479Pro) rs774641579
NM_024422.6(DSC2):c.1521G>A (p.Arg507=)
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser) rs762973455
NM_024422.6(DSC2):c.1694T>G (p.Ile565Ser) rs1986963426
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys) rs759513934
NM_024422.6(DSC2):c.2412C>A (p.His804Gln) rs1986728077
NM_024422.6(DSC2):c.354+15A>C rs1303672773
NM_024422.6(DSC2):c.443C>G (p.Ser148Cys)
NM_024422.6(DSC2):c.70-18dup rs572309510
NM_024496.4(IRF2BPL):c.1010G>A (p.Ser337Asn) rs1214159684
NM_024496.4(IRF2BPL):c.923C>T (p.Thr308Met)
NM_024513.4(FYCO1):c.3347G>A (p.Arg1116His)
NM_024528.4(NKAP):c.143C>T (p.Ser48Phe)
NM_024537.4(CARS2):c.1A>G (p.Met1Val) rs1456556476
NM_024570.4(RNASEH2B):c.263C>G (p.Ala88Gly)
NM_024570.4(RNASEH2B):c.28G>C (p.Gly10Arg)
NM_024570.4(RNASEH2B):c.816_817del (p.Glu273fs)
NM_024575.5(TNFAIP8L2):c.480T>A (p.Tyr160Ter)
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.151G>A (p.Asp51Asn)
NM_024577.4(SH3TC2):c.287C>T (p.Ser96Leu) rs2127401458
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp) rs1580888993
NM_024596.5(MCPH1):c.1136G>T (p.Arg379Ile)
NM_024596.5(MCPH1):c.2422G>A (p.Val808Ile)
NM_024596.5(MCPH1):c.670+5A>C
NM_024637.5(GAL3ST4):c.97C>T (p.Gln33Ter) rs1799085397
NM_024649.5(BBS1):c.1385G>A (p.Arg462His)
NM_024649.5(BBS1):c.47+8C>T
NM_024675.4(PALB2):c.101G>A (p.Arg34His) rs144944814
NM_024675.4(PALB2):c.1121T>C (p.Ile374Thr) rs1567221558
NM_024675.4(PALB2):c.1189A>G (p.Thr397Ala) rs367578415
NM_024675.4(PALB2):c.1292G>A (p.Ser431Asn) rs1555461357
NM_024675.4(PALB2):c.132T>G (p.Ile44Met) rs756856792
NM_024675.4(PALB2):c.1340C>T (p.Ala447Val) rs1555461334
NM_024675.4(PALB2):c.1433C>T (p.Ser478Phe) rs786203879
NM_024675.4(PALB2):c.1457A>T (p.Lys486Ile) rs864622291
NM_024675.4(PALB2):c.1669T>C (p.Phe557Leu) rs1326785676
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp) rs587782151
NM_024675.4(PALB2):c.1918T>G (p.Ser640Ala) rs876659058
NM_024675.4(PALB2):c.1940A>T (p.His647Leu) rs1055533509
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg) rs71379822
NM_024675.4(PALB2):c.1988G>A (p.Arg663His) rs1462734899
NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu) rs876660397
NM_024675.4(PALB2):c.205C>T (p.His69Tyr) rs879253891
NM_024675.4(PALB2):c.2065T>G (p.Ser689Ala) rs2142382088
NM_024675.4(PALB2):c.2147A>G (p.Asn716Ser) rs148335539
NM_024675.4(PALB2):c.2188A>G (p.Ile730Val) rs1060502735
NM_024675.4(PALB2):c.2230G>A (p.Glu744Lys) rs62625278
NM_024675.4(PALB2):c.2461A>T (p.Asn821Tyr) rs958566673
NM_024675.4(PALB2):c.2482T>C (p.Cys828Arg) rs876660545
NM_024675.4(PALB2):c.2494C>T (p.His832Tyr) rs901786175
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.4(PALB2):c.2514+5A>G rs1966855329
NM_024675.4(PALB2):c.2515-3C>G rs957106428
NM_024675.4(PALB2):c.2515-6T>C rs1597088273
NM_024675.4(PALB2):c.25C>T (p.Leu9Phe) rs1060502744
NM_024675.4(PALB2):c.2615T>C (p.Val872Ala) rs730881877
NM_024675.4(PALB2):c.2749-5T>C rs1966828330
NM_024675.4(PALB2):c.2792T>C (p.Leu931Pro) rs773831304
NM_024675.4(PALB2):c.2966_2968del (p.Val989del) rs1555459526
NM_024675.4(PALB2):c.29G>T (p.Ser10Ile) rs876659643
NM_024675.4(PALB2):c.3041T>C (p.Leu1014Pro) rs876659554
NM_024675.4(PALB2):c.3066G>A (p.Met1022Ile) rs1220966608
NM_024675.4(PALB2):c.3107T>C (p.Val1036Ala) rs1555459357
NM_024675.4(PALB2):c.3202-8G>A rs367979106
NM_024675.4(PALB2):c.3306C>G (p.Ser1102Arg) rs515726112
NM_024675.4(PALB2):c.3307G>C (p.Val1103Leu) rs201657283
NM_024675.4(PALB2):c.3328C>G (p.Leu1110Val) rs878855117
NM_024675.4(PALB2):c.3350+9G>C rs1966504683
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.337C>G (p.Pro113Ala) rs1352495486
NM_024675.4(PALB2):c.3436C>A (p.Gln1146Lys) rs879254033
NM_024675.4(PALB2):c.34GAG[1] (p.Glu13del) rs745444171
NM_024675.4(PALB2):c.3553T>G (p.Tyr1185Asp) rs878855120
NM_024675.4(PALB2):c.37G>C (p.Glu13Gln) rs373287455
NM_024675.4(PALB2):c.398G>A (p.Ser133Asn) rs864622411
NM_024675.4(PALB2):c.476A>G (p.Glu159Gly) rs1555461786
NM_024675.4(PALB2):c.508A>G (p.Arg170Gly) rs864622622
NM_024675.4(PALB2):c.603T>A (p.Ser201Arg) rs769647912
NM_024675.4(PALB2):c.631G>C (p.Glu211Gln)
NM_024675.4(PALB2):c.637G>C (p.Val213Leu) rs786203875
NM_024675.4(PALB2):c.679G>A (p.Ala227Thr) rs1555461678
NM_024675.4(PALB2):c.700G>A (p.Asp234Asn) rs868149939
NM_024675.4(PALB2):c.737C>T (p.Thr246Ile) rs1597098443
NM_024675.4(PALB2):c.74A>G (p.Lys25Arg) rs1967111893
NM_024675.4(PALB2):c.755C>T (p.Thr252Ile) rs1967023769
NM_024675.4(PALB2):c.833_834delinsAT (p.Leu278His) rs587778582
NM_024675.4(PALB2):c.871G>A (p.Ala291Thr) rs878855124
NM_024675.4(PALB2):c.983C>G (p.Ser328Cys)
NM_024675.4(PALB2):c.9G>T (p.Glu3Asp) rs786202325
NM_024685.4(BBS10):c.1126C>G (p.Leu376Val) rs11109474
NM_024685.4(BBS10):c.1457A>T (p.Tyr486Phe) rs1429011304
NM_024747.6(HPS6):c.2229_2230del (p.Ala745fs)
NM_024747.6(HPS6):c.815C>T (p.Thr272Ile) rs281865109
NM_024747.6(HPS6):c.938G>T (p.Gly313Val)
NM_024757.5(EHMT1):c.1015G>C (p.Val339Leu)
NM_024757.5(EHMT1):c.1099G>C (p.Ala367Pro)
NM_024757.5(EHMT1):c.13G>A (p.Asp5Asn) rs1050977100
NM_024757.5(EHMT1):c.190A>T (p.Ser64Cys)
NM_024757.5(EHMT1):c.3082G>T (p.Ala1028Ser)
NM_024757.5(EHMT1):c.339C>G (p.Asp113Glu) rs1455743308
NM_024757.5(EHMT1):c.3797C>G (p.Ser1266Trp)
NM_024782.3(NHEJ1):c.860C>A (p.Ser287Ter)
NM_024795.4(TM4SF20):c.322del (p.Ala108fs)
NM_024809.5(TCTN2):c.2053del (p.Leu685fs)
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024824.5(ZC3H14):c.1571del (p.Gly524fs)
NM_024915.4(GRHL2):c.-4A>T
NM_024996.7(GFM1):c.1199G>C (p.Arg400Pro) rs139692119
NM_024996.7(GFM1):c.961T>C (p.Ser321Pro)
NM_025074.7(FRAS1):c.10648+4A>G
NM_025074.7(FRAS1):c.10906A>C (p.Thr3636Pro) rs1399050730
NM_025074.7(FRAS1):c.10961G>T (p.Arg3654Leu) rs765433709
NM_025074.7(FRAS1):c.1099C>T (p.Arg367Cys)
NM_025074.7(FRAS1):c.11901_11904dup (p.His3969Ter) rs2109911879
NM_025074.7(FRAS1):c.1214C>A (p.Ala405Asp) rs1727402639
NM_025074.7(FRAS1):c.1286C>G (p.Ser429Cys)
NM_025074.7(FRAS1):c.603+4A>T
NM_025074.7(FRAS1):c.8966A>T (p.Asn2989Ile) rs1267920613
NM_025077.4(TOE1):c.-44T>G rs201746729
NM_025083.5(EDC3):c.818C>T (p.Thr273Met)
NM_025099.6(CTC1):c.2066A>G (p.Tyr689Cys)
NM_025099.6(CTC1):c.2164C>T (p.Pro722Ser) rs770505786
NM_025099.6(CTC1):c.833G>T (p.Gly278Val) rs768853291
NM_025114.4(CEP290):c.2009G>A (p.Gly670Glu) rs2038917373
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.2861A>C (p.Asp954Ala) rs886049882
NM_025114.4(CEP290):c.3119T>C (p.Met1040Thr) rs2137369505
NM_025114.4(CEP290):c.4682G>A (p.Arg1561His) rs371157150
NM_025114.4(CEP290):c.4716A>C (p.Glu1572Asp) rs780960290
NM_025114.4(CEP290):c.502C>T (p.Arg168Cys) rs760856790
NM_025114.4(CEP290):c.5226+6T>G
NM_025114.4(CEP290):c.593G>T (p.Arg198Ile)
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025137.4(SPG11):c.1609A>T (p.Ile537Leu) rs2084149306
NM_025137.4(SPG11):c.2114A>G (p.Gln705Arg) rs2141038104
NM_025137.4(SPG11):c.6756G>A (p.Glu2252=)
NM_025137.4(SPG11):c.6884_6886del (p.Thr2295del) rs1060501169
NM_025137.4(SPG11):c.7249G>T (p.Glu2417Ter) rs371313584
NM_025144.4(ALPK1):c.2704A>C (p.Ser902Arg)
NM_025144.4(ALPK1):c.3538+15G>A
NM_025207.5(FLAD1):c.1711C>T (p.Arg571Cys)
NM_025215.6(PUS1):c.1270G>A (p.Gly424Arg)
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
NM_025216.3(WNT10A):c.499G>C (p.Glu167Gln)
NM_025243.4(SLC19A3):c.414A>T (p.Arg138Ser)
NM_025257.3(SLC44A4):c.242+14C>T
NM_025257.3(SLC44A4):c.700G>T (p.Val234Phe)
NM_025265.4(TSEN2):c.1136+4C>T
NM_025265.4(TSEN2):c.1311_1317delinsTTTA (p.Glu438_Cys439delinsLeu)
NM_025265.4(TSEN2):c.1338+1G>A
NM_030578.4(B9D2):c.359G>A (p.Arg120Gln) rs374581827
NM_030624.3(KLHL15):c.970A>G (p.Ile324Val)
NM_030632.3(ASXL3):c.2044C>T (p.Pro682Ser)
NM_030632.3(ASXL3):c.2542T>A (p.Tyr848Asn)
NM_030632.3(ASXL3):c.3224C>T (p.Ala1075Val)
NM_030632.3(ASXL3):c.5252C>G (p.Thr1751Arg) rs753874423
NM_030653.4(DDX11):c.2372G>A (p.Arg791Gln)
NM_030662.4(MAP2K2):c.-16G>A
NM_030662.4(MAP2K2):c.1047-6C>A rs774258077
NM_030662.4(MAP2K2):c.159del (p.Leu54fs) rs777549760
NM_030662.4(MAP2K2):c.208G>A (p.Asp70Asn)
NM_030662.4(MAP2K2):c.291C>G (p.Ile97Met) rs200918323
NM_030662.4(MAP2K2):c.352G>A (p.Glu118Lys) rs756646033
NM_030662.4(MAP2K2):c.705+15G>A rs1187456546
NM_030662.4(MAP2K2):c.919+10_919+12delinsAAG rs1064794489
NM_030662.4(MAP2K2):c.919+5G>A rs540315377
NM_030662.4(MAP2K2):c.985-19C>A rs987549297
NM_030662.4(MAP2K2):c.985-7_985-5del rs753469223
NM_030665.4(RAI1):c.2602GAG[2] (p.Glu870del)
NM_030665.4(RAI1):c.3701C>T (p.Thr1234Ile)
NM_030665.4(RAI1):c.4853G>A (p.Gly1618Glu)
NM_030773.4(TUBB1):c.1163T>C (p.Met388Thr)
NM_030773.4(TUBB1):c.166+14G>C
NM_030777.4(SLC2A10):c.1181C>G (p.Ala394Gly)
NM_030777.4(SLC2A10):c.1466G>A (p.Gly489Asp)
NM_030777.4(SLC2A10):c.1529A>G (p.Gln510Arg)
NM_030777.4(SLC2A10):c.316G>A (p.Ala106Thr) rs6094438
NM_030777.4(SLC2A10):c.371C>T (p.Ser124Leu) rs774076515
NM_030777.4(SLC2A10):c.504C>A (p.Phe168Leu) rs540023880
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030787.4(CFHR5):c.626G>A (p.Gly209Asp)
NM_030805.4(LMAN2L):c.373_374del (p.Leu125fs) rs2153336229
NM_031206.7(LAS1L):c.178T>A (p.Cys60Ser)
NM_031372.4(HNRNPDL):c.166C>T (p.Arg56Trp)
NM_031372.4(HNRNPDL):c.241C>G (p.Arg81Gly)
NM_031372.4(HNRNPDL):c.328C>T (p.Gln110Ter)
NM_031407.7(HUWE1):c.10036-7C>T
NM_031407.7(HUWE1):c.10087A>G (p.Ser3363Gly)
NM_031407.7(HUWE1):c.2056G>A (p.Glu686Lys)
NM_031407.7(HUWE1):c.4310A>T (p.His1437Leu)
NM_031407.7(HUWE1):c.5108C>T (p.Thr1703Met)
NM_031407.7(HUWE1):c.7597G>A (p.Gly2533Ser) rs2147610748
NM_031407.7(HUWE1):c.9920G>T (p.Gly3307Val)
NM_031418.4(ANO3):c.1339A>T (p.Lys447Ter)
NM_031418.4(ANO3):c.1448-18C>T
NM_031443.4(CCM2):c.153G>T (p.Glu51Asp)
NM_031448.6(C19orf12):c.161G>C (p.Gly54Ala) rs752450983
NM_031885.5(BBS2):c.-14A>G rs1567588946
NM_031885.5(BBS2):c.1447A>G (p.Met483Val) rs748721721
NM_031885.5(BBS2):c.947G>A (p.Gly316Asp)
NM_031942.5(CDCA7):c.196dup (p.Tyr66fs)
NM_031942.5(CDCA7):c.761G>T (p.Arg254Leu) rs200556185
NM_032040.5(CCDC8):c.1198G>C (p.Gly400Arg)
NM_032040.5(CCDC8):c.1454G>A (p.Arg485His)
NM_032040.5(CCDC8):c.1510A>G (p.Thr504Ala)
NM_032040.5(CCDC8):c.572C>T (p.Ala191Val)
NM_032043.3(BRIP1):c.-4C>T rs2145866620
NM_032043.3(BRIP1):c.104G>T (p.Gly35Val) rs876659168
NM_032043.3(BRIP1):c.121C>G (p.His41Asp) rs770930270
NM_032043.3(BRIP1):c.1277T>G (p.Val426Gly) rs1567829202
NM_032043.3(BRIP1):c.1352C>T (p.Ala451Val) rs771861055
NM_032043.3(BRIP1):c.1465A>G (p.Ile489Val) rs1555605855
NM_032043.3(BRIP1):c.1489G>C (p.Val497Leu) rs876658725
NM_032043.3(BRIP1):c.1552G>A (p.Val518Ile) rs786201701
NM_032043.3(BRIP1):c.1588C>T (p.Leu530Phe) rs1326418771
NM_032043.3(BRIP1):c.1661A>G (p.Gln554Arg) rs1567813893
NM_032043.3(BRIP1):c.1682A>C (p.Gln561Pro) rs1603334713
NM_032043.3(BRIP1):c.172T>C (p.Cys58Arg)
NM_032043.3(BRIP1):c.1760A>T (p.His587Leu) rs876660646
NM_032043.3(BRIP1):c.1808T>C (p.Ile603Thr) rs1555602215
NM_032043.3(BRIP1):c.1824G>C (p.Gln608His) rs1567812636
NM_032043.3(BRIP1):c.1836G>T (p.Leu612Phe) rs1464898721
NM_032043.3(BRIP1):c.1840T>G (p.Ser614Ala)
NM_032043.3(BRIP1):c.1941G>T (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.1946G>C (p.Gly649Ala) rs746066323
NM_032043.3(BRIP1):c.1972C>A (p.Arg658=) rs786203170
NM_032043.3(BRIP1):c.1973G>A (p.Arg658Gln) rs759142191
NM_032043.3(BRIP1):c.2097G>A (p.Lys699=) rs1060501754
NM_032043.3(BRIP1):c.20A>T (p.Glu7Val)
NM_032043.3(BRIP1):c.2102T>C (p.Leu701Ser) rs876658270
NM_032043.3(BRIP1):c.2131A>G (p.Thr711Ala) rs760515227
NM_032043.3(BRIP1):c.2146A>G (p.Asn716Asp) rs1060501745
NM_032043.3(BRIP1):c.214G>A (p.Ala72Thr) rs1357919929
NM_032043.3(BRIP1):c.2325T>G (p.Asn775Lys) rs375146450
NM_032043.3(BRIP1):c.232G>C (p.Glu78Gln) rs2145830931
NM_032043.3(BRIP1):c.2354C>T (p.Pro785Leu) rs2144675861
NM_032043.3(BRIP1):c.2405A>G (p.Asp802Gly) rs876660273
NM_032043.3(BRIP1):c.2493-10T>A rs776255327
NM_032043.3(BRIP1):c.2493-10dup rs1457869893
NM_032043.3(BRIP1):c.2566T>C (p.Tyr856His) rs2061476921
NM_032043.3(BRIP1):c.2573C>T (p.Ser858Phe) rs1064793893
NM_032043.3(BRIP1):c.2576-3T>C rs2144119000
NM_032043.3(BRIP1):c.2803G>A (p.Val935Met) rs1219152456
NM_032043.3(BRIP1):c.2804T>C (p.Val935Ala) rs4988356
NM_032043.3(BRIP1):c.297C>G (p.Asp99Glu) rs201617644
NM_032043.3(BRIP1):c.2990C>T (p.Thr997Ile) rs749978235
NM_032043.3(BRIP1):c.3411_3412delinsCT (p.Asp1138Tyr) rs1555572620
NM_032043.3(BRIP1):c.3411_3420del (p.Leu1136_Tyr1137insTer) rs876660100
NM_032043.3(BRIP1):c.3424A>G (p.Thr1142Ala) rs2061307605
NM_032043.3(BRIP1):c.3435A>C (p.Glu1145Asp) rs876660035
NM_032043.3(BRIP1):c.343C>T (p.Pro115Ser) rs876659142
NM_032043.3(BRIP1):c.3514G>T (p.Glu1172Ter)
NM_032043.3(BRIP1):c.356A>G (p.Asn119Ser) rs889877039
NM_032043.3(BRIP1):c.3607_3608delinsAT (p.Glu1203Ile) rs587782615
NM_032043.3(BRIP1):c.370A>C (p.Thr124Pro) rs45617634
NM_032043.3(BRIP1):c.388G>A (p.Glu130Lys) rs876658860
NM_032043.3(BRIP1):c.485G>T (p.Arg162Leu) rs61757643
NM_032043.3(BRIP1):c.507+9_507+10del rs747185394
NM_032043.3(BRIP1):c.508-10G>C rs2078749443
NM_032043.3(BRIP1):c.508-8G>A rs202074040
NM_032043.3(BRIP1):c.697A>G (p.Ile233Val) rs769535320
NM_032043.3(BRIP1):c.749C>G (p.Thr250Arg) rs1555609275
NM_032043.3(BRIP1):c.795G>T (p.Arg265Ser) rs61754143
NM_032043.3(BRIP1):c.929G>A (p.Cys310Tyr) rs1567832184
NM_032043.3(BRIP1):c.969C>G (p.His323Gln) rs1555607775
NM_032043.3(BRIP1):c.975A>T (p.Leu325Phe) rs771630777
NM_032119.4(ADGRV1):c.10686C>A (p.Ser3562Arg)
NM_032119.4(ADGRV1):c.13048T>C (p.Ser4350Pro)
NM_032119.4(ADGRV1):c.13751AAGGAG[3] (p.Gly4587_Gly4588insGluGly)
NM_032119.4(ADGRV1):c.2399G>A (p.Arg800Gln)
NM_032119.4(ADGRV1):c.3826G>A (p.Gly1276Ser)
NM_032119.4(ADGRV1):c.4148A>G (p.Tyr1383Cys) rs1580609185
NM_032119.4(ADGRV1):c.558+5G>A
NM_032119.4(ADGRV1):c.7130G>A (p.Arg2377Gln) rs369341309
NM_032119.4(ADGRV1):c.7307T>G (p.Leu2436Arg)
NM_032119.4(ADGRV1):c.9202G>T (p.Ala3068Ser) rs972777692
NM_032122.5(DTNBP1):c.1019_1020del (p.Glu340fs) rs752074481
NM_032178.3(SLC7A6OS):c.759C>G (p.Tyr253Ter)
NM_032188.3(KAT8):c.110C>G (p.Ser37Cys)
NM_032193.4(RNASEH2C):c.438_439dup (p.Ala147fs)
NM_032193.4(RNASEH2C):c.495A>G (p.Ter165Trp) rs749473518
NM_032242.4(PLXNA1):c.2618C>T (p.Thr873Met)
NM_032242.4(PLXNA1):c.329G>A (p.Ser110Asn)
NM_032271.3(TRAF7):c.56T>C (p.Leu19Pro)
NM_032271.3(TRAF7):c.65C>A (p.Pro22Gln)
NM_032271.3(TRAF7):c.946C>T (p.Arg316Cys)
NM_032305.3(POLR3GL):c.2T>C (p.Met1Thr)
NM_032380.5(GFM2):c.2247dup (p.Ser750fs)
NM_032383.5(HPS3):c.121G>A (p.Val41Met)
NM_032387.5(WNK4):c.3593G>A (p.Arg1198His)
NM_032436.4(CHAMP1):c.1474G>A (p.Val492Ile) rs1555379778
NM_032436.4(CHAMP1):c.2012T>C (p.Met671Thr)
NM_032444.4(SLX4):c.611G>A (p.Arg204His)
NM_032482.3(DOT1L):c.2545-4G>A
NM_032520.5(GNPTG):c.277G>A (p.Glu93Lys)
NM_032520.5(GNPTG):c.754C>T (p.Leu252Phe)
NM_032525.3(TUBB6):c.90C>G (p.Ile30Met) rs1906161383
NM_032539.5(SLITRK2):c.1721G>A (p.Arg574Lys)
NM_032545.4(CFC1):c.196_207dup (p.Gly69_Pro70insGluGlyTrpGly)
NM_032551.5(KISS1R):c.1028_1041del (p.Arg343fs)
NM_032578.4(MYPN):c.1162C>T (p.Pro388Ser)
NM_032578.4(MYPN):c.1508C>A (p.Ala503Asp)
NM_032578.4(MYPN):c.2189C>G (p.Thr730Arg) rs373040567
NM_032578.4(MYPN):c.3373G>A (p.Glu1125Lys)
NM_032578.4(MYPN):c.3493+16G>C
NM_032581.4(HYCC1):c.-29+2T>G
NM_032588.4(TRIM63):c.170C>G (p.Pro57Arg)
NM_032588.4(TRIM63):c.185G>A (p.Arg62Gln)
NM_032588.4(TRIM63):c.235C>T (p.Arg79Cys)
NM_032588.4(TRIM63):c.332+4G>T
NM_032588.4(TRIM63):c.338C>T (p.Pro113Leu)
NM_032588.4(TRIM63):c.625C>G (p.Leu209Val)
NM_032588.4(TRIM63):c.866C>T (p.Ala289Val)
NM_032601.4(MCEE):c.419dup (p.Lys141fs) rs776473131
NM_032608.7(MYO18B):c.3824T>G (p.Val1275Gly)
NM_032620.4(GTPBP3):c.-16C>G
NM_032620.4(GTPBP3):c.665C>A (p.Ala222Asp) rs373370177
NM_032634.4(PIGO):c.1673C>T (p.Ala558Val) rs544432298
NM_032638.5(GATA2):c.852C>T (p.Ser284=) rs1282036381
NM_032656.4(DHX37):c.1150C>G (p.Leu384Val)
NM_032730.5(RTN4IP1):c.433G>A (p.Ala145Thr)
NM_032737.4(LMNB2):c.151C>T (p.Arg51Cys)
NM_032790.4(ORAI1):c.58G>A (p.Gly20Ser) rs1244560316
NM_032790.4(ORAI1):c.614A>T (p.Gln205Leu)
NM_032790.4(ORAI1):c.95_131dup (p.Pro46fs)
NM_032856.5(WDR73):c.1132del (p.Arg378fs) rs747109506
NM_032861.4(SERAC1):c.-1A>T
NM_032888.4(COL27A1):c.1892G>A (p.Gly631Glu)
NM_032888.4(COL27A1):c.2855G>A (p.Gly952Glu)
NM_032888.4(COL27A1):c.3178G>C (p.Gly1060Arg)
NM_032888.4(COL27A1):c.3394G>A (p.Gly1132Ser)
NM_032888.4(COL27A1):c.4351G>C (p.Gly1451Arg) rs761876047
NM_032888.4(COL27A1):c.4765G>C (p.Gly1589Arg)
NM_032892.5(FRMD5):c.178A>G (p.Ile60Val)
NM_033004.4(NLRP1):c.3503dup (p.His1168fs)
NM_033026.6(PCLO):c.1229C>G (p.Pro410Arg)
NM_033026.6(PCLO):c.1426CCAGCAAAGCCCCCACCTCAACAGCCTGGC[3] (p.476PAKPPPQQPG[3]) rs750616592
NM_033026.6(PCLO):c.5247A>C (p.Lys1749Asn) rs370974945
NM_033026.6(PCLO):c.6532C>T (p.Pro2178Ser) rs201432429
NM_033026.6(PCLO):c.9481A>G (p.Ile3161Val)
NM_033028.5(BBS4):c.1294del (p.Glu432fs) rs912967826
NM_033028.5(BBS4):c.439T>A (p.Tyr147Asn) rs781691906
NM_033056.4(PCDH15):c.4681_4684dup (p.Ser1562Ter) rs730880357
NM_033056.4(PCDH15):c.4768A>G (p.Asn1590Asp) rs2132504927
NM_033056.4(PCDH15):c.4777_4801dup (p.Gln1601fs)
NM_033056.4(PCDH15):c.4902del (p.Glu1635fs)
NM_033056.4(PCDH15):c.4907_4908del (p.Lys1636fs) rs1491209806
NM_033056.4(PCDH15):c.4982C>A (p.Ser1661Ter) rs1287970288
NM_033056.4(PCDH15):c.5100_5101dup (p.Ser1701fs) rs918473867
NM_033056.4(PCDH15):c.5253_5266del (p.Pro1752fs) rs2132494091
NM_033087.4(ALG2):c.1055_1056delinsTGA (p.Ser352fs) rs1554707637
NM_033087.4(ALG2):c.212C>G (p.Ala71Gly) rs551744220
NM_033109.5(PNPT1):c.2148+8G>C
NM_033118.4(MYLK2):c.1045A>T (p.Ile349Phe)
NM_033118.4(MYLK2):c.1048G>A (p.Glu350Lys)
NM_033118.4(MYLK2):c.1580C>A (p.Ala527Asp)
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys) rs766199082
NM_033118.4(MYLK2):c.436T>C (p.Phe146Leu) rs2062247462
NM_033118.4(MYLK2):c.759C>G (p.Cys253Trp) rs773021152
NM_033337.3(CAV3):c.109G>A (p.Val37Ile)
NM_033337.3(CAV3):c.227T>C (p.Leu76Ser) rs755505530
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser) rs28936686
NM_033337.3(CAV3):c.400G>C (p.Ala134Pro)
NM_033343.4(LHX4):c.300G>C (p.Gln100His)
NM_033343.4(LHX4):c.727_732dup (p.Ser244_Ser245insGluSer)
NM_033360.4(KRAS):c.140A>G (p.Asp47Gly) rs1565885006
NM_033360.4(KRAS):c.291-5C>G rs1565884303
NM_033360.4(KRAS):c.400G>A (p.Ala134Thr) rs1565884227
NM_033360.4(KRAS):c.461A>T (p.Asp154Val)
NM_033380.3(COL4A5):c.-16C>T
NM_033380.3(COL4A5):c.-25_-8dup rs752443408
NM_033380.3(COL4A5):c.1340-8T>G
NM_033380.3(COL4A5):c.1948+8T>C
NM_033380.3(COL4A5):c.2509+6A>G
NM_033380.3(COL4A5):c.3454+5G>T
NM_033380.3(COL4A5):c.4207G>A (p.Gly1403Ser) rs2147982351
NM_033380.3(COL4A5):c.4892G>A (p.Arg1631His)
NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu) rs754849522
NM_033453.4(ITPA):c.189+4C>G
NM_033453.4(ITPA):c.401G>A (p.Gly134Asp) rs1029276206
NM_033641.4(COL4A6):c.1118G>A (p.Gly373Glu) rs1234916196
NM_033641.4(COL4A6):c.1232A>G (p.Gln411Arg)
NM_052845.4(MMAB):c.716_718delinsAGT (p.Met239_Lys240delinsLysTer)
NM_052854.4(CREB3L1):c.1109C>T (p.Thr370Ile) rs776460030
NM_052854.4(CREB3L1):c.523G>A (p.Gly175Arg)
NM_052867.4(NALCN):c.2917C>T (p.Pro973Ser)
NM_052867.4(NALCN):c.5087T>C (p.Met1696Thr)
NM_052989.3(IFT122):c.394A>C (p.Ser132Arg)
NM_053025.4(MYLK):c.1403G>A (p.Gly468Asp)
NM_053025.4(MYLK):c.1651+8C>T
NM_053025.4(MYLK):c.2338G>C (p.Val780Leu) rs2061520061
NM_053025.4(MYLK):c.3137C>T (p.Thr1046Ile) rs1060502533
NM_053025.4(MYLK):c.3637G>A (p.Val1213Met) rs368390254
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.3677C>T (p.Pro1226Leu)
NM_053025.4(MYLK):c.3726G>C (p.Gln1242His) rs2059732665
NM_053025.4(MYLK):c.5368+9_5368+11del rs753392124
NM_053025.4(MYLK):c.5399T>G (p.Val1800Gly)
NM_053025.4(MYLK):c.773+16G>T
NM_053025.4(MYLK):c.992C>T (p.Thr331Met) rs371825849
NM_053056.3(CCND1):c.387_392delinsGGAG (p.Asp129fs)
NM_054012.4(ASS1):c.1022C>T (p.Ser341Phe)
NM_054012.4(ASS1):c.1165A>C (p.Thr389Pro)
NM_054012.4(ASS1):c.1166C>T (p.Thr389Ile) rs1474017319
NM_054012.4(ASS1):c.140C>T (p.Ala47Val) rs1301161301
NM_054012.4(ASS1):c.725C>T (p.Thr242Ile)
NM_054012.4(ASS1):c.773+6T>G
NM_054012.4(ASS1):c.904A>G (p.Met302Val) rs1846391609
NM_054012.4(ASS1):c.968C>T (p.Thr323Ile)
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg) rs1055308437
NM_057176.3(BSND):c.-42_-1dup
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) rs121908145
NM_057176.3(BSND):c.23G>A (p.Arg8Gln)
NM_057176.3(BSND):c.467C>A (p.Ala156Asp) rs1644395855
NM_057176.3(BSND):c.685C>T (p.Gln229Ter)
NM_057176.3(BSND):c.723del (p.Phe241fs)
NM_057176.3(BSND):c.802C>T (p.Gln268Ter)
NM_058004.4(PI4KA):c.5462-8G>A
NM_058172.6(ANTXR2):c.1069G>A (p.Ala357Thr) rs12647691
NM_058172.6(ANTXR2):c.1347+6T>C
NM_058172.6(ANTXR2):c.1428+1G>A rs2110011671
NM_058172.6(ANTXR2):c.1450C>T (p.Arg484Ter)
NM_058172.6(ANTXR2):c.1465T>C (p.Ter489Gln)
NM_058172.6(ANTXR2):c.469T>C (p.Ser157Pro) rs2110108311
NM_058172.6(ANTXR2):c.712G>T (p.Val238Phe) rs768405615
NM_058216.3(RAD51C):c.-7G>T rs753249247
NM_058216.3(RAD51C):c.1000G>A (p.Glu334Lys) rs1567817431
NM_058216.3(RAD51C):c.1026+6T>A rs2144046795
NM_058216.3(RAD51C):c.1027-2A>G rs587780835
NM_058216.3(RAD51C):c.1103G>A (p.Arg368Gln) rs1378390389
NM_058216.3(RAD51C):c.249G>C (p.Lys83Asn) rs145387081
NM_058216.3(RAD51C):c.265G>A (p.Glu89Lys) rs876658197
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala) rs370212314
NM_058216.3(RAD51C):c.335G>T (p.Gly112Val) rs370212314
NM_058216.3(RAD51C):c.377C>T (p.Ala126Val) rs1555593858
NM_058216.3(RAD51C):c.389G>C (p.Gly130Ala) rs2047958982
NM_058216.3(RAD51C):c.405-5G>A rs1598459949
NM_058216.3(RAD51C):c.411G>T (p.Gln137His) rs1555594552
NM_058216.3(RAD51C):c.418G>A (p.Val140Ile) rs730881938
NM_058216.3(RAD51C):c.477T>G (p.Asp159Glu) rs760436864
NM_058216.3(RAD51C):c.489T>A (p.Ser163Arg) rs876659719
NM_058216.3(RAD51C):c.50T>C (p.Phe17Ser) rs1411454855
NM_058216.3(RAD51C):c.572-3C>G rs1567794089
NM_058216.3(RAD51C):c.745C>T (p.Arg249Cys) rs28363311
NM_058216.3(RAD51C):c.901T>G (p.Leu301Val) rs2143932190
NM_058216.3(RAD51C):c.959A>G (p.Lys320Arg) rs587780260
NM_058216.3(RAD51C):c.960G>C (p.Lys320Asn) rs864622395
NM_058216.3(RAD51C):c.966-1G>A rs876658272
NM_058216.3(RAD51C):c.989C>T (p.Pro330Leu) rs1567817392
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662
NM_080424.4(SP110):c.3G>A (p.Met1Ile)
NM_080425.4(GNAS):c.1366_1367insAGGCGGCCCCTGACGCCCCAGCCGATCCCGACTCCG (p.Ser455_Gly456insGluAlaAlaProAspAlaProAlaAspProAspSer)
NM_080425.4(GNAS):c.1642G>C (p.Ala548Pro)
NM_080425.4(GNAS):c.305dup (p.Met102fs)
NM_080425.4(GNAS):c.543C>T (p.Val181=)
NM_080425.4(GNAS):c.751G>C (p.Gly251Arg)
NM_080425.4(GNAS):c.923C>T (p.Pro308Leu)
NM_080473.5(GATA5):c.695G>T (p.Arg232Leu) rs753656900
NM_080669.6(SLC46A1):c.1037T>C (p.Met346Thr) rs2142464726
NM_080669.6(SLC46A1):c.1334del (p.Lys445fs)
NM_080680.3(COL11A2):c.2682+5G>A rs1175212667
NM_080680.3(COL11A2):c.5195T>C (p.Val1732Ala)
NM_080911.3(UNG):c.*70_*71del rs193922714
NM_080916.3(DGUOK):c.115C>G (p.Arg39Gly)
NM_080916.3(DGUOK):c.256-3T>C
NM_080916.3(DGUOK):c.834A>T (p.Ter278Tyr)
NM_130797.4(DPP6):c.2252C>T (p.Ala751Val)
NM_130797.4(DPP6):c.397G>A (p.Val133Ile)
NM_130837.3(OPA1):c.1230T>C (p.Asp410=)
NM_130837.3(OPA1):c.1916G>T (p.Arg639Leu)
NM_130837.3(OPA1):c.1935+17C>T
NM_130837.3(OPA1):c.1935+3A>G rs398124300
NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del) rs755591067
NM_130837.3(OPA1):c.288A>T (p.Arg96Ser)
NM_130837.3(OPA1):c.379C>A (p.Pro127Thr)
NM_130839.5(UBE3A):c.2198G>A (p.Gly733Asp) rs1595572384
NM_130839.5(UBE3A):c.2239T>G (p.Phe747Val) rs2076968651
NM_130849.4(SLC39A4):c.192+5C>T
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) rs373908553
NM_133259.4(LRPPRC):c.134C>G (p.Ala45Gly) rs2103796814
NM_133259.4(LRPPRC):c.1627A>G (p.Ser543Gly)
NM_133259.4(LRPPRC):c.1649+4A>C
NM_133259.4(LRPPRC):c.2741C>A (p.Pro914Gln) rs1463658772
NM_133259.4(LRPPRC):c.2966G>A (p.Arg989His) rs774857058
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_133379.5(TTN):c.12673G>C (p.Asp4225His)
NM_133433.4(NIPBL):c.2798C>G (p.Ala933Gly)
NM_133433.4(NIPBL):c.5489C>T (p.Ala1830Val)
NM_133433.4(NIPBL):c.5710-3T>C
NM_133433.4(NIPBL):c.6589+8dup
NM_133433.4(NIPBL):c.7003C>T (p.Arg2335Trp)
NM_133433.4(NIPBL):c.7063A>G (p.Met2355Val) rs2149742243
NM_133433.4(NIPBL):c.7867C>T (p.Leu2623Phe)
NM_134261.3(RORA):c.196+51339G>A
NM_134261.3(RORA):c.196+51343A>G
NM_138295.5(PKD1L1):c.3683G>A (p.Ser1228Asn)
NM_138295.5(PKD1L1):c.5605C>T (p.Arg1869Cys)
NM_138383.3(MTSS2):c.2018G>C (p.Ser673Thr)
NM_138383.3(MTSS2):c.291-8C>T
NM_138459.5(NUS1):c.97T>C (p.Trp33Arg)
NM_138477.4(CDAN1):c.1003C>T (p.Arg335Trp) rs751595854
NM_138477.4(CDAN1):c.2029C>T (p.Arg677Trp)
NM_138576.4(BCL11B):c.1602_1628del (p.Asp534_Glu542del)
NM_138615.3(DHX30):c.1234C>T (p.Arg412Cys)
NM_138615.3(DHX30):c.1334A>G (p.Asn445Ser) rs2107133781
NM_138615.3(DHX30):c.2880T>G (p.Asn960Lys)
NM_138615.3(DHX30):c.441_442delinsGA (p.Ser148Thr)
NM_138615.3(DHX30):c.521G>A (p.Arg174Gln)
NM_138691.3(TMC1):c.1198A>T (p.Thr400Ser)
NM_138694.4(PKHD1):c.10181G>A (p.Cys3394Tyr) rs1772559884
NM_138694.4(PKHD1):c.10226A>G (p.Asp3409Gly)
NM_138694.4(PKHD1):c.10315G>T (p.Asp3439Tyr)
NM_138694.4(PKHD1):c.1124G>A (p.Arg375Gln)
NM_138694.4(PKHD1):c.12142_12143inv (p.Gln4048Ter)
NM_138694.4(PKHD1):c.1234-10_1234-9delinsAC rs1554217929
NM_138694.4(PKHD1):c.1258G>C (p.Gly420Arg) rs140458350
NM_138694.4(PKHD1):c.1408G>T (p.Gly470Cys)
NM_138694.4(PKHD1):c.1919A>G (p.Lys640Arg) rs1807314191
NM_138694.4(PKHD1):c.2170C>T (p.Pro724Ser) rs1806602099
NM_138694.4(PKHD1):c.2209T>A (p.Ser737Thr)
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2569G>A (p.Gly857Arg) rs1562220663
NM_138694.4(PKHD1):c.2642T>C (p.Val881Ala) rs373974753
NM_138694.4(PKHD1):c.2926T>C (p.Ser976Pro) rs770882723
NM_138694.4(PKHD1):c.3349A>G (p.Ile1117Val)
NM_138694.4(PKHD1):c.4165C>A (p.Pro1389Thr) rs2128144732
NM_138694.4(PKHD1):c.5521G>A (p.Glu1841Lys) rs913487671
NM_138694.4(PKHD1):c.5908G>C (p.Gly1970Arg) rs794727592
NM_138694.4(PKHD1):c.5953G>A (p.Ala1985Thr) rs2127769211
NM_138694.4(PKHD1):c.6116T>C (p.Leu2039Pro)
NM_138694.4(PKHD1):c.6490+3A>G
NM_138694.4(PKHD1):c.7205G>A (p.Gly2402Asp)
NM_138694.4(PKHD1):c.776C>T (p.Ser259Leu) rs1160054242
NM_138694.4(PKHD1):c.787T>C (p.Ser263Pro)
NM_138694.4(PKHD1):c.8164A>C (p.Thr2722Pro) rs1268020662
NM_138694.4(PKHD1):c.893_895del (p.Asp298_Ile299delinsVal)
NM_138694.4(PKHD1):c.9308G>A (p.Gly3103Asp)
NM_138694.4(PKHD1):c.9719G>T (p.Arg3240Leu) rs146649803
NM_138927.4(SON):c.2795A>G (p.His932Arg)
NM_138927.4(SON):c.4453A>G (p.Lys1485Glu)
NM_138927.4(SON):c.6493C>T (p.Pro2165Ser)
NM_138927.4(SON):c.78-9C>T
NM_139027.6(ADAMTS13):c.1351G>A (p.Ala451Thr) rs375508823
NM_139027.6(ADAMTS13):c.1769C>T (p.Pro590Leu)
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys) rs104894746
NM_139058.3(ARX):c.1300GCC[10] (p.Ala438_Ala440dup) rs398124508
NM_139058.3(ARX):c.324_341del (p.Ala110_Ala115del) rs2147324337
NM_139076.3(ABRAXAS1):c.-5G>C rs1420806723
NM_139076.3(ABRAXAS1):c.-8G>A
NM_139076.3(ABRAXAS1):c.-9G>A
NM_139076.3(ABRAXAS1):c.100C>A (p.Leu34Ile) rs1723022716
NM_139076.3(ABRAXAS1):c.1124G>C (p.Gly375Ala) rs751122263
NM_139076.3(ABRAXAS1):c.1180A>C (p.Ile394Leu) rs1560570462
NM_139076.3(ABRAXAS1):c.1187del (p.Lys396fs)
NM_139076.3(ABRAXAS1):c.1A>C (p.Met1Leu) rs369467990
NM_139076.3(ABRAXAS1):c.234C>T (p.Gly78=) rs765721350
NM_139076.3(ABRAXAS1):c.250G>A (p.Ala84Thr) rs1404975428
NM_139076.3(ABRAXAS1):c.327C>G (p.Ile109Met) rs924277966
NM_139076.3(ABRAXAS1):c.364C>T (p.Gln122Ter) rs137876115
NM_139076.3(ABRAXAS1):c.410C>T (p.Pro137Leu) rs1560574581
NM_139076.3(ABRAXAS1):c.414T>G (p.Ser138Arg) rs1722530567
NM_139076.3(ABRAXAS1):c.443G>A (p.Arg148Gln) rs760079258
NM_139076.3(ABRAXAS1):c.530T>C (p.Leu177Pro)
NM_139076.3(ABRAXAS1):c.533G>A (p.Gly178Asp) rs773434048
NM_139076.3(ABRAXAS1):c.596+9C>G rs778567938
NM_139076.3(ABRAXAS1):c.643A>T (p.Ile215Leu) rs1578126311
NM_139076.3(ABRAXAS1):c.793G>A (p.Ala265Thr)
NM_139076.3(ABRAXAS1):c.7G>A (p.Gly3Arg) rs370520589
NM_139076.3(ABRAXAS1):c.7G>T (p.Gly3Trp) rs370520589
NM_139076.3(ABRAXAS1):c.820C>T (p.Pro274Ser) rs1060503252
NM_139076.3(ABRAXAS1):c.88-7T>C
NM_139076.3(ABRAXAS1):c.952G>C (p.Asp318His) rs775345294
NM_139076.3(ABRAXAS1):c.977T>C (p.Met326Thr) rs1722176448
NM_139276.3(STAT3):c.1229A>G (p.His410Arg) rs2144772044
NM_139276.3(STAT3):c.1366-20A>G rs1567710255
NM_139276.3(STAT3):c.1840A>C (p.Ser614Arg) rs886039546
NM_139276.3(STAT3):c.1849G>A (p.Gly617Arg) rs2144691698
NM_139276.3(STAT3):c.1852G>C (p.Gly618Arg) rs2081548277
NM_139276.3(STAT3):c.1919_1920delinsTT (p.Tyr640Phe) rs2081522163
NM_139276.3(STAT3):c.1940A>T (p.Asn647Ile) rs770986654
NM_139276.3(STAT3):c.1940_1941delinsTT (p.Asn647Ile)
NM_139276.3(STAT3):c.2144+46_2144+47del rs1279773038
NM_139276.3(STAT3):c.2144+9C>G
NM_139276.3(STAT3):c.735_744del (p.Arg246fs)
NM_139315.3(TAF6):c.1629_1632dup (p.Ser545fs) rs1796720731
NM_139315.3(TAF6):c.1767_1770dup (p.Ala591fs) rs2116693457
NM_139318.5(KCNH5):c.2471A>T (p.Lys824Ile)
NM_139319.3(SLC17A8):c.1426-18C>A
NM_139319.3(SLC17A8):c.183C>G (p.Ser61Arg)
NM_144508.5(KNL1):c.5723T>G (p.Leu1908Ter)
NM_144573.4(NEXN):c.1814del (p.Val605fs)
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144639.3(UROC1):c.709G>C (p.Glu237Gln) rs150437149
NM_144639.3(UROC1):c.908C>A (p.Ala303Glu)
NM_144670.6(A2ML1):c.1021T>A (p.Ser341Thr) rs1277845851
NM_144670.6(A2ML1):c.1022C>A (p.Ser341Ter) rs1943384970
NM_144670.6(A2ML1):c.1248+10G>A
NM_144670.6(A2ML1):c.1249-19_1319dup rs1943546023
NM_144670.6(A2ML1):c.128_224dup (p.His75_Leu76insGluProTrpValGlnTer) rs1942804878
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His) rs376035211
NM_144670.6(A2ML1):c.1423T>A (p.Tyr475Asn)
NM_144670.6(A2ML1):c.1475A>G (p.Tyr492Cys) rs1943556876
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser) rs1032646451
NM_144670.6(A2ML1):c.1656C>A (p.Phe552Leu)
NM_144670.6(A2ML1):c.1684-47_1724dup rs1943731808
NM_144670.6(A2ML1):c.1730T>G (p.Val577Gly) rs917780860
NM_144670.6(A2ML1):c.1750G>A (p.Ala584Thr) rs1943737655
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu) rs200673370
NM_144670.6(A2ML1):c.1789_1790del (p.Ser597fs) rs779516620
NM_144670.6(A2ML1):c.1828C>G (p.Arg610Gly) rs375392265
NM_144670.6(A2ML1):c.1834-1G>T rs1943786459
NM_144670.6(A2ML1):c.1834-20_1887dup rs1943785430
NM_144670.6(A2ML1):c.1955G>A (p.Gly652Glu)
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met) rs148198269
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg) rs2136878186
NM_144670.6(A2ML1):c.2257C>T (p.His753Tyr)
NM_144670.6(A2ML1):c.2366C>T (p.Pro789Leu) rs1943905141
NM_144670.6(A2ML1):c.2463+13G>A rs151032368
NM_144670.6(A2ML1):c.2707G>A (p.Val903Ile) rs1416944345
NM_144670.6(A2ML1):c.2716G>A (p.Glu906Lys)
NM_144670.6(A2ML1):c.2752C>A (p.Leu918Met) rs1944005605
NM_144670.6(A2ML1):c.290_384dup (p.Pro129delinsGlyCysArgGluLeuGluIleThrSerAlaLeuArgArgArgLysArgPheTer) rs1942828214
NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter) rs2136691291
NM_144670.6(A2ML1):c.3007G>C (p.Val1003Leu) rs2136913749
NM_144670.6(A2ML1):c.3108-11T>C
NM_144670.6(A2ML1):c.3264+4C>T
NM_144670.6(A2ML1):c.3296C>T (p.Ala1099Val) rs751968824
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr)
NM_144670.6(A2ML1):c.3434C>T (p.Ser1145Phe) rs768331924
NM_144670.6(A2ML1):c.3718-16_3791dup rs1944470043
NM_144670.6(A2ML1):c.3718-6C>T rs1944470448
NM_144670.6(A2ML1):c.3886G>A (p.Gly1296Arg) rs760857113
NM_144670.6(A2ML1):c.3971T>C (p.Met1324Thr)
NM_144670.6(A2ML1):c.3971T>G (p.Met1324Arg) rs1341976356
NM_144670.6(A2ML1):c.4061+16G>A rs200962359
NM_144670.6(A2ML1):c.4061+1G>C rs202067416
NM_144670.6(A2ML1):c.4088A>G (p.Asn1363Ser)
NM_144670.6(A2ML1):c.409+13T>C
NM_144670.6(A2ML1):c.4105G>T (p.Val1369Leu) rs755052089
NM_144670.6(A2ML1):c.44C>A (p.Ala15Asp) rs1942780601
NM_144670.6(A2ML1):c.462+16G>A
NM_144670.6(A2ML1):c.462+2T>C rs201877710
NM_144670.6(A2ML1):c.479T>C (p.Leu160Pro) rs769954501
NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys)
NM_144670.6(A2ML1):c.63-6del rs1463624612
NM_144670.6(A2ML1):c.941T>G (p.Ile314Ser) rs889804273
NM_144687.4(NLRP12):c.1462G>T (p.Gly488Trp)
NM_144687.4(NLRP12):c.1884G>T (p.Gln628His)
NM_144687.4(NLRP12):c.46dup (p.Tyr16fs) rs1599879570
NM_144687.4(NLRP12):c.838C>T (p.Gln280Ter) rs145049569
NM_144772.3(NAXE):c.779del (p.Gly260fs)
NM_144773.4(PROKR2):c.1000G>A (p.Val334Met)
NM_144773.4(PROKR2):c.1111G>C (p.Gly371Arg) rs201023639
NM_144773.4(PROKR2):c.1155A>T (p.Ter385Cys)
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys) rs141090506
NM_144992.5(VWA3B):c.2810_2813del (p.Val937fs)
NM_145046.5(CALR3):c.58A>G (p.Thr20Ala)
NM_145059.3(FCSK):c.1407-1G>C
NM_145059.3(FCSK):c.1579C>T (p.Arg527Cys) rs1377077648
NM_145059.3(FCSK):c.2138C>G (p.Ala713Gly)
NM_145059.3(FCSK):c.2572G>T (p.Ala858Ser) rs17884050
NM_145199.3(LIPT1):c.368del (p.Lys123fs)
NM_145239.3(PRRT2):c.227C>T (p.Ala76Val)
NM_145239.3(PRRT2):c.64G>A (p.Gly22Ser) rs1900059601
NM_145239.3(PRRT2):c.740C>G (p.Pro247Arg)
NM_145261.4(DNAJC19):c.210-18A>G
NM_145261.4(DNAJC19):c.217G>A (p.Ala73Thr)
NM_145331.3(MAP3K7):c.1029T>G (p.Asp343Glu)
NM_145886.4(PIDD1):c.1444C>G (p.Pro482Ala)
NM_145886.4(PIDD1):c.2226G>T (p.Arg742Ser)
NM_145886.4(PIDD1):c.71A>G (p.Asp24Gly)
NM_147127.5(EVC2):c.1470+6A>G
NM_147127.5(EVC2):c.1909C>A (p.Gln637Lys)
NM_147127.5(EVC2):c.2059C>T (p.Arg687Cys)
NM_147127.5(EVC2):c.2293A>G (p.Lys765Glu)
NM_148897.3(SDR9C7):c.888del (p.Pro296_Val297insTer)
NM_152281.3(GORAB):c.1062C>A (p.Asn354Lys) rs2101834808
NM_152296.5(ATP1A3):c.2648G>A (p.Arg883His)
NM_152296.5(ATP1A3):c.760C>T (p.Arg254Cys)
NM_152415.3(VPS37A):c.1113+1G>A
NM_152419.3(HGSNAT):c.-115_-101dup rs534597242
NM_152419.3(HGSNAT):c.-47_-38GGGCG[3] rs1466847827
NM_152419.3(HGSNAT):c.-61_-37dup rs1451176677
NM_152419.3(HGSNAT):c.1150C>G (p.Arg384Gly)
NM_152419.3(HGSNAT):c.118+67_118+90del rs972393144
NM_152419.3(HGSNAT):c.1250+5G>A
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys) rs777276988
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys) rs763301637
NM_152419.3(HGSNAT):c.1907G>T (p.Ter636Leu)
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup) rs961025173
NM_152419.3(HGSNAT):c.776A>G (p.Tyr259Cys) rs753843717
NM_152419.3(HGSNAT):c.850T>C (p.Trp284Arg)
NM_152424.4(AMER1):c.-1C>A
NM_152424.4(AMER1):c.3145C>T (p.Arg1049Ter) rs780779666
NM_152424.4(AMER1):c.332G>C (p.Ser111Thr)
NM_152443.3(RDH12):c.698_699delinsAA (p.Val233Glu) rs2038232911
NM_152443.3(RDH12):c.770C>T (p.Thr257Met)
NM_152564.5(VPS13B):c.11215+1641A>G
NM_152564.5(VPS13B):c.11967_11970dup (p.Ala3991Ter) rs769983613
NM_152564.5(VPS13B):c.1376G>A (p.Gly459Glu) rs1810005848
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_152564.5(VPS13B):c.4337G>A (p.Arg1446Gln)
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del) rs386834088
NM_152564.5(VPS13B):c.4949+3A>G rs1824584392
NM_152564.5(VPS13B):c.5167_5168delinsTC (p.Gln1723Ser)
NM_152564.5(VPS13B):c.6657+3C>T
NM_152564.5(VPS13B):c.7462G>A (p.Asp2488Asn) rs780602782
NM_152564.5(VPS13B):c.9127G>A (p.Glu3043Lys) rs757673565
NM_152594.3(SPRED1):c.-12G>C rs371200183
NM_152594.3(SPRED1):c.1087A>G (p.Ile363Val)
NM_152594.3(SPRED1):c.1112G>C (p.Cys371Ser)
NM_152594.3(SPRED1):c.1117G>C (p.Glu373Gln)
NM_152594.3(SPRED1):c.1163C>T (p.Ser388Phe) rs1888487548
NM_152594.3(SPRED1):c.1231T>C (p.Ser411Pro)
NM_152594.3(SPRED1):c.1281_*4dup (p.His427_Ter445=) rs1888490960
NM_152594.3(SPRED1):c.1304G>A (p.Cys435Tyr)
NM_152594.3(SPRED1):c.189G>C (p.Glu63Asp) rs2140978555
NM_152594.3(SPRED1):c.221G>T (p.Cys74Phe) rs1412213561
NM_152594.3(SPRED1):c.502T>G (p.Tyr168Asp) rs1566872960
NM_152594.3(SPRED1):c.582+16A>G rs1895996789
NM_152594.3(SPRED1):c.808G>T (p.Asp270Tyr)
NM_152594.3(SPRED1):c.881A>T (p.Tyr294Phe) rs886051105
NM_152618.3(BBS12):c.2104C>T (p.Gln702Ter)
NM_152641.4(ARID2):c.2455C>G (p.Gln819Glu)
NM_152641.4(ARID2):c.4153G>A (p.Val1385Ile)
NM_152641.4(ARID2):c.4213_4214delinsTT (p.Asp1405Phe)
NM_152641.4(ARID2):c.4976G>A (p.Gly1659Glu)
NM_152703.5(SAMD9L):c.1904del (p.Leu635fs)
NM_152703.5(SAMD9L):c.3880A>T (p.Lys1294Ter)
NM_152703.5(SAMD9L):c.3909C>A (p.Tyr1303Ter)
NM_152722.5(HEPACAM):c.1153C>T (p.Pro385Ser) rs1947132037
NM_152722.5(HEPACAM):c.382G>A (p.Asp128Asn) rs1947184803
NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile) rs746134081
NM_152722.5(HEPACAM):c.863G>A (p.Arg288His)
NM_152722.5(HEPACAM):c.952T>A (p.Ser318Thr) rs1947137638
NM_152753.4(SCUBE3):c.1735C>T (p.Arg579Trp)
NM_152783.5(D2HGDH):c.1195G>A (p.Val399Met)
NM_153006.3(NAGS):c.1096+6G>A
NM_153006.3(NAGS):c.427-218A>C
NM_153240.5(NPHP3):c.2394C>G (p.Phe798Leu)
NM_153252.5(BRWD3):c.4384A>G (p.Ser1462Gly)
NM_153603.4(COG7):c.373del (p.Leu125fs)
NM_153676.4(USH1C):c.2457delinsCGCTGAC (p.Glu819delinsAspAlaAsp)
NM_153676.4(USH1C):c.434G>A (p.Cys145Tyr)
NM_153676.4(USH1C):c.527C>T (p.Pro176Leu) rs1461558857
NM_153676.4(USH1C):c.96G>A (p.Met32Ile)
NM_153704.6(TMEM67):c.-1C>T
NM_153704.6(TMEM67):c.1575+5G>A rs1554555063
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2184_2185insCACTGCACTCCAGCCTGGGTGACAGAGCGGGAC (p.Ser728_Cys729insHisCysThrProAlaTrpValThrGluArgAsp)
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser) rs762543032
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro) rs863225234
NM_153704.6(TMEM67):c.395G>C (p.Gly132Ala)
NM_153717.3(EVC):c.2152C>T (p.Arg718Trp)
NM_153766.3(KCNJ1):c.197T>A (p.Ile66Asn)
NM_153766.3(KCNJ1):c.211G>T (p.Gly71Trp)
NM_153766.3(KCNJ1):c.575T>G (p.Ile192Ser)
NM_153813.3(ZFPM1):c.1331_1333del (p.Glu444_Pro445delinsAla) rs1912951056
NM_153816.6(SNX14):c.*14G>T
NM_153816.6(SNX14):c.-18G>C
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser) rs146849758
NM_153816.6(SNX14):c.1358T>C (p.Val453Ala) rs1161324670
NM_170606.3(KMT2C):c.11167G>A (p.Ala3723Thr) rs115580901
NM_170606.3(KMT2C):c.11248G>T (p.Ala3750Ser) rs747954521
NM_170606.3(KMT2C):c.11350A>G (p.Lys3784Glu)
NM_170606.3(KMT2C):c.12250A>G (p.Ile4084Val)
NM_170606.3(KMT2C):c.13598G>A (p.Arg4533Gln)
NM_170606.3(KMT2C):c.2573G>T (p.Trp858Leu) rs111493987
NM_170606.3(KMT2C):c.2578C>T (p.Pro860Ser) rs112515611
NM_170606.3(KMT2C):c.2671C>A (p.Pro891Thr) rs2095262954
NM_170606.3(KMT2C):c.56C>G (p.Pro19Arg)
NM_170606.3(KMT2C):c.9979G>A (p.Val3327Ile) rs868100053
NM_170675.5(MEIS2):c.1061G>A (p.Ser354Asn)
NM_170707.4(LMNA):c.1123G>T (p.Ala375Ser) rs879254162
NM_170707.4(LMNA):c.1237G>T (p.Gly413Cys) rs766811975
NM_170707.4(LMNA):c.212G>T (p.Ser71Ile)
NM_170707.4(LMNA):c.397C>T (p.Arg133Trp)
NM_170707.4(LMNA):c.600G>T (p.Met200Ile)
NM_170784.3(MKKS):c.1692T>A (p.Tyr564Ter) rs1284336032
NM_171998.4(RAB39B):c.313G>A (p.Glu105Lys)
NM_172107.4(KCNQ2):c.1704C>G (p.Ile568Met) rs144909985
NM_172107.4(KCNQ2):c.2138C>T (p.Pro713Leu) rs750333438
NM_172107.4(KCNQ2):c.388-4G>T
NM_172201.2(KCNE2):c.13T>C (p.Ser5Pro) rs2123423458
NM_172201.2(KCNE2):c.79C>A (p.Arg27Ser) rs74315449
NM_172245.4(CSF2RA):c.1118A>T (p.Glu373Val) rs2083468521
NM_172250.3(MMAA):c.748G>A (p.Glu250Lys)
NM_173076.3(ABCA12):c.179G>C (p.Arg60Pro) rs762065937
NM_173076.3(ABCA12):c.3299T>G (p.Met1100Arg)
NM_173076.3(ABCA12):c.400G>T (p.Ala134Ser) rs2106060931
NM_173076.3(ABCA12):c.4412A>G (p.His1471Arg)
NM_173076.3(ABCA12):c.5363_5372delinsTAAA (p.Glu1788_Ala1791delinsValAsn)
NM_173348.2(FAM149B1):c.1023G>C (p.Pro341=)
NM_173354.5(SIK1):c.1345A>T (p.Arg449Trp)
NM_173354.5(SIK1):c.25G>A (p.Ala9Thr)
NM_173477.5(USH1G):c.1022C>A (p.Ala341Glu) rs762822503
NM_173483.4(CYP4F22):c.1217C>T (p.Ser406Phe) rs147680222
NM_173483.4(CYP4F22):c.1352G>A (p.Arg451His)
NM_173495.3(PTCHD1):c.466G>C (p.Val156Leu) rs199597484
NM_173500.4(TTBK2):c.3273-8C>A
NM_173500.4(TTBK2):c.596G>A (p.Arg199Gln)
NM_173596.3(SLC39A5):c.1559dup (p.Gly521fs) rs776367522
NM_173602.3(DIP2B):c.692C>G (p.Ser231Ter)
NM_173653.4(SLC9A9):c.1000+4A>T
NM_173660.4:c.(?_*2670)_(*14056_?)del
NM_173660.5(DOK7):c.1501A>C (p.Asn501His)
NM_173660.5(DOK7):c.212A>T (p.Tyr71Phe) rs771583740
NM_173660.5(DOK7):c.512G>A (p.Gly171Asp) rs1286619522
NM_173689.7(CRB2):c.2661_2663delinsTTGCTCGGCGCTTGCTCGGCGCCT (p.Ser888delinsCysSerAlaLeuAlaArgArgLeu)
NM_173689.7(CRB2):c.952G>C (p.Gly318Arg) rs759937525
NM_173791.5(PDZD8):c.2786A>G (p.Asn929Ser)
NM_173849.3(GSC):c.25G>C (p.Asp9His)
NM_173849.3(GSC):c.539A>G (p.Gln180Arg)
NM_174878.3(CLRN1):c.151G>C (p.Gly51Arg) rs752143225
NM_174889.5(NDUFAF2):c.282_283del (p.His94fs) rs767565052
NM_174916.3(UBR1):c.1295T>C (p.Ile432Thr) rs1057518231
NM_174916.3(UBR1):c.3492C>G (p.His1164Gln) rs34803922
NM_174936.4(PCSK9):c.1180G>A (p.Gly394Ser)
NM_174936.4(PCSK9):c.1354+12G>A
NM_174936.4(PCSK9):c.1461_1462del (p.Ser488fs)
NM_174936.4(PCSK9):c.1479del (p.Lys494fs)
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln) rs370574590
NM_174936.4(PCSK9):c.1547G>A (p.Gly516Glu) rs891322948
NM_174936.4(PCSK9):c.1547G>T (p.Gly516Val)
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.173A>G (p.His58Arg) rs1644586889
NM_174936.4(PCSK9):c.1863+18G>T
NM_174936.4(PCSK9):c.399+6C>A
NM_174936.4(PCSK9):c.522C>T (p.Pro174=) rs373018373
NM_174936.4(PCSK9):c.524-13T>A
NM_174936.4(PCSK9):c.547T>C (p.Tyr183His)
NM_174936.4(PCSK9):c.573T>G (p.Ser191Arg)
NM_174936.4(PCSK9):c.670G>C (p.Asp224His)
NM_174936.4(PCSK9):c.85del (p.Arg29fs) rs1553135406
NM_175607.3(CNTN4):c.514G>A (p.Val172Ile)
NM_175914.5(HNF4A):c.1303G>A (p.Val435Ile) rs145314165
NM_175914.5(HNF4A):c.1309C>A (p.Pro437Thr) rs2063853373
NM_175914.5(HNF4A):c.319+5G>C
NM_175914.5(HNF4A):c.319G>C (p.Ala107Pro) rs2063517684
NM_175914.5(HNF4A):c.685_686insCCCTCGGCACTGCCCACATTG (p.Ile228_Val229insAlaLeuGlyThrAlaHisIle)
NM_175914.5(HNF4A):c.794C>A (p.Ala265Asp) rs746602886
NM_175914.5(HNF4A):c.881A>G (p.Gln294Arg)
NM_175914.5(HNF4A):c.932G>A (p.Arg311His) rs1375557127
NM_177402.5(SYT2):c.1103A>C (p.Asn368Thr) rs2149063983
NM_177402.5(SYT2):c.751G>A (p.Gly251Ser)
NM_177402.5(SYT2):c.787G>A (p.Gly263Arg)
NM_177402.5(SYT2):c.827C>T (p.Thr276Ile)
NM_177924.5(ASAH1):c.1016T>A (p.Met339Lys)
NM_177924.5(ASAH1):c.644A>T (p.Lys215Ile)
NM_178138.6(LHX3):c.598G>C (p.Val200Leu)
NM_178138.6(LHX3):c.803C>T (p.Pro268Leu)
NM_178857.6(RP1L1):c.5821C>T (p.Gln1941Ter) rs201017122
NM_181303.2(NLGN3):c.1429C>G (p.Leu477Val) rs2147908332
NM_181303.2(NLGN3):c.2194C>T (p.Arg732Cys)
NM_181303.2(NLGN3):c.237C>G (p.Ile79Met)
NM_181303.2(NLGN3):c.38G>A (p.Ser13Asn) rs2092376058
NM_181332.3(NLGN4X):c.70A>G (p.Asn24Asp)
NM_181458.4(PAX3):c.142G>A (p.Gly48Ser)
NM_181458.4(PAX3):c.215T>C (p.Ile72Thr) rs1695340242
NM_181507.2(HPS5):c.2561+6T>C
NM_181507.2(HPS5):c.2717+6A>G
NM_181507.2(HPS5):c.323G>A (p.Arg108His) rs201664625
NM_181507.2(HPS5):c.3346A>G (p.Met1116Val)
NM_181523.3(PIK3R1):c.1073G>A (p.Arg358Gln)
NM_181552.4(CUX1):c.1632C>G (p.Ser544Arg)
NM_181552.4(CUX1):c.2753C>A (p.Pro918His)
NM_181552.4(CUX1):c.2907+5G>A
NM_181552.4(CUX1):c.97C>T (p.Arg33Trp)
NM_181783.4(TMTC3):c.2233dup (p.Ile745fs)
NM_182641.4(BPTF):c.342_356del (p.Thr115_Arg119del)
NM_182641.4(BPTF):c.4873G>A (p.Val1625Ile)
NM_182641.4(BPTF):c.5390C>T (p.Ala1797Val)
NM_182710.3(KAT5):c.930G>C (p.Gln310His)
NM_182760.4(SUMF1):c.1029G>T (p.Arg343Ser)
NM_182760.4(SUMF1):c.251G>C (p.Arg84Pro) rs762094231
NM_182914.3(SYNE2):c.1019A>G (p.Asn340Ser)
NM_182914.3(SYNE2):c.12537A>C (p.Gln4179His)
NM_182914.3(SYNE2):c.1346A>T (p.Asn449Ile)
NM_182914.3(SYNE2):c.2002-18T>G
NM_182914.3(SYNE2):c.590C>T (p.Thr197Ile)
NM_182914.3(SYNE2):c.6135_6136delinsGA (p.Ser2045_Phe2046delinsArgIle)
NM_182914.3(SYNE2):c.7495C>G (p.Gln2499Glu)
NM_182922.4(HEATR3):c.1523A>G (p.His508Arg)
NM_182931.3(KMT2E):c.4309A>G (p.Thr1437Ala)
NM_182943.3(PLOD2):c.2122-2A>G
NM_182943.3(PLOD2):c.2122-8T>A
NM_182943.3(PLOD2):c.2170C>T (p.Arg724Ter)
NM_182943.3(PLOD2):c.437C>G (p.Pro146Arg) rs766267153
NM_182961.4(SYNE1):c.12226-4C>T
NM_182961.4(SYNE1):c.1343A>G (p.Gln448Arg)
NM_182961.4(SYNE1):c.13825C>A (p.Leu4609Ile) rs2153972296
NM_182961.4(SYNE1):c.16657A>G (p.Thr5553Ala)
NM_182961.4(SYNE1):c.17545A>G (p.Thr5849Ala) rs2095126393
NM_182961.4(SYNE1):c.19663C>G (p.Pro6555Ala)
NM_182961.4(SYNE1):c.225G>C (p.Leu75=)
NM_182961.4(SYNE1):c.23999T>C (p.Leu8000Ser)
NM_182961.4(SYNE1):c.281C>T (p.Thr94Met)
NM_182961.4(SYNE1):c.310-13C>T
NM_182961.4(SYNE1):c.4570G>A (p.Ala1524Thr)
NM_182961.4(SYNE1):c.943G>A (p.Glu315Lys)
NM_182978.4(GNAL):c.193C>T (p.Arg65Trp)
NM_182978.4(GNAL):c.249C>G (p.Ala83=)
NM_183050.4(BCKDHB):c.1165A>C (p.Met389Leu)
NM_183050.4(BCKDHB):c.410C>A (p.Ala137Glu) rs776631396
NM_183050.4(BCKDHB):c.548G>A (p.Arg183Gln) rs79761867
NM_183065.4(TMEM107):c.*689A>C rs1400162090
NM_183075.3(CYP2U1):c.5C>T (p.Ser2Leu) rs550088634
NM_183357.3(ADCY5):c.1655G>A (p.Arg552Gln) rs2108391289
NM_183357.3(ADCY5):c.3119T>C (p.Leu1040Pro) rs2108195005
NM_194248.3(OTOF):c.13A>G (p.Ile5Val) rs745503114
NM_194248.3(OTOF):c.1469C>A (p.Pro490Gln) rs80356585
NM_194248.3(OTOF):c.1553G>T (p.Arg518Leu) rs150090360
NM_194248.3(OTOF):c.2245A>T (p.Ile749Phe) rs781354904
NM_194248.3(OTOF):c.2765G>T (p.Arg922Leu)
NM_194248.3(OTOF):c.3205T>G (p.Phe1069Val)
NM_194248.3(OTOF):c.3413T>C (p.Leu1138Pro) rs397515599
NM_194248.3(OTOF):c.5180G>A (p.Arg1727Gln)
NM_194248.3(OTOF):c.5570G>A (p.Gly1857Asp) rs2148018483
NM_194248.3(OTOF):c.5712+6C>T
NM_194248.3(OTOF):c.5728G>A (p.Glu1910Lys)
NM_194248.3(OTOF):c.5813A>G (p.Asn1938Ser)
NM_194248.3(OTOF):c.5821G>T (p.Asp1941Tyr) rs545842714
NM_194277.3(FRMD7):c.557T>C (p.Met186Thr)
NM_194323.3(OTOF):c.3678G>T (p.Lys1226Asn)
NM_197968.4(ZMYM2):c.289T>G (p.Ser97Ala)
NM_197968.4(ZMYM2):c.3820+3A>G
NM_197968.4(ZMYM2):c.950C>T (p.Pro317Leu)
NM_198053.3(CD247):c.59-3_59-2del
NM_198129.4(LAMA3):c.5632C>T (p.Arg1878Cys) rs867507379
NM_198129.4(LAMA3):c.6281C>A (p.Thr2094Asn) rs2145140189
NM_198129.4(LAMA3):c.6976G>C (p.Glu2326Gln) rs148831718
NM_198129.4(LAMA3):c.8708+4G>A rs200417639
NM_198239.2(CCN6):c.1013A>T (p.Gln338Leu)
NM_198239.2(CCN6):c.1024dup (p.Arg342fs)
NM_198241.3(EIF4G1):c.2500A>G (p.Thr834Ala)
NM_198252.3(GSN):c.-9-1986C>T
NM_198407.2(GHSR):c.367A>G (p.Ser123Gly)
NM_198503.5(KCNT2):c.1294+1G>T
NM_198503.5(KCNT2):c.944T>C (p.Met315Thr)
NM_198535.3(ZNF699):c.1891C>T (p.Arg631Ter)
NM_198576.4(AGRN):c.5332G>A (p.Ala1778Thr) rs538792693
NM_198578.4(LRRK2):c.192_193del (p.Leu65fs)
NM_198578.4(LRRK2):c.4976C>G (p.Ala1659Gly)
NM_198578.4(LRRK2):c.6242A>T (p.Asn2081Ile)
NM_198578.4(LRRK2):c.7182G>C (p.Arg2394Ser)
NM_198681.4(PLEKHG5):c.-164-753T>A
NM_198880.3(QRICH1):c.1441G>A (p.Val481Ile)
NM_198880.3(QRICH1):c.2139-17A>C
NM_198904.4(GABRG2):c.1152+3_1152+9dup
NM_198947.4(FAM111B):c.103_104del (p.His35fs) rs2135403553
NM_198994.3(TGM6):c.1678+9A>T
NM_198994.3(TGM6):c.1679-11T>C
NM_198994.3(TGM6):c.990-1G>C
NM_199242.3(UNC13D):c.1204C>G (p.Leu402Val)
NM_199242.3(UNC13D):c.1454C>T (p.Pro485Leu) rs550974990
NM_199242.3(UNC13D):c.1637A>G (p.Asp546Gly)
NM_199242.3(UNC13D):c.2030T>C (p.Ile677Thr)
NM_201253.3(CRB1):c.1360G>A (p.Gly454Arg)
NM_201253.3(CRB1):c.1688G>C (p.Ser563Thr)
NM_201253.3(CRB1):c.1777G>A (p.Ala593Thr)
NM_201253.3(CRB1):c.1885A>G (p.Asn629Asp)
NM_201253.3(CRB1):c.2093G>A (p.Cys698Tyr)
NM_201253.3(CRB1):c.2309G>A (p.Gly770Asp) rs878853365
NM_201253.3(CRB1):c.2416G>C (p.Glu806Gln)
NM_201253.3(CRB1):c.3520T>G (p.Cys1174Gly)
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr) rs1450635782
NM_201253.3(CRB1):c.3901T>C (p.Cys1301Arg)
NM_201253.3(CRB1):c.936T>G (p.Asn312Lys)
NM_201384.3(PLEC):c.1737+11C>G
NM_201384.3(PLEC):c.5722C>T (p.Arg1908Trp)
NM_201548.5(CERKL):c.1287G>A (p.Met429Ile) rs766319295
NM_201548.5(CERKL):c.1538+4A>C
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu) rs142639223
NM_201596.3(CACNB2):c.1933A>T (p.Lys645Ter)
NM_203447.4(DOCK8):c.230T>C (p.Val77Ala) rs2130293015
NM_203447.4(DOCK8):c.295G>A (p.Glu99Lys) rs547012088
NM_203447.4(DOCK8):c.2T>C (p.Met1Thr) rs760902978
NM_205836.3(FBXO38):c.2519G>C (p.Gly840Ala)
NM_205836.3(FBXO38):c.2580T>A (p.Asn860Lys)
NM_205836.3(FBXO38):c.2683A>C (p.Met895Leu)
NM_205861.3(DHDDS):c.802C>T (p.Gln268Ter) rs1180408059
NM_205861.3(DHDDS):c.908_941del (p.Ser303fs)
NM_206933.4(USH2A):c.1064T>C (p.Val355Ala)
NM_206933.4(USH2A):c.11824G>A (p.Val3942Ile) rs1659890930
NM_206933.4(USH2A):c.12088C>G (p.Leu4030Val) rs141528682
NM_206933.4(USH2A):c.12094G>A (p.Gly4032Arg) rs908265742
NM_206933.4(USH2A):c.12104C>T (p.Pro4035Leu)
NM_206933.4(USH2A):c.12116A>G (p.Tyr4039Cys) rs1658185167
NM_206933.4(USH2A):c.12261G>C (p.Trp4087Cys)
NM_206933.4(USH2A):c.13126T>G (p.Trp4376Gly) rs775490668
NM_206933.4(USH2A):c.13165T>C (p.Tyr4389His) rs2102665721
NM_206933.4(USH2A):c.13283G>T (p.Gly4428Val) rs1234273599
NM_206933.4(USH2A):c.13312T>C (p.Trp4438Arg) rs372802465
NM_206933.4(USH2A):c.1346G>T (p.Arg449Leu) rs766715882
NM_206933.4(USH2A):c.13757A>G (p.His4586Arg) rs1657913699
NM_206933.4(USH2A):c.13811+3A>G rs760716728
NM_206933.4(USH2A):c.13894C>T (p.Pro4632Ser)
NM_206933.4(USH2A):c.14475T>A (p.His4825Gln)
NM_206933.4(USH2A):c.1468C>T (p.His490Tyr)
NM_206933.4(USH2A):c.15020C>T (p.Pro5007Leu) rs1237333884
NM_206933.4(USH2A):c.15465dup (p.Val5156fs) rs769582796
NM_206933.4(USH2A):c.1644+5G>C rs1558036810
NM_206933.4(USH2A):c.1723T>A (p.Cys575Ser)
NM_206933.4(USH2A):c.1971+14A>C
NM_206933.4(USH2A):c.264C>G (p.Cys88Trp) rs368798834
NM_206933.4(USH2A):c.3812-3_3837dup rs780071028
NM_206933.4(USH2A):c.3895A>G (p.Ser1299Gly)
NM_206933.4(USH2A):c.4027A>C (p.Asn1343His) rs754634823
NM_206933.4(USH2A):c.4307C>T (p.Pro1436Leu) rs1230923403
NM_206933.4(USH2A):c.4385C>T (p.Thr1462Ile) rs2034687815
NM_206933.4(USH2A):c.46G>A (p.Val16Ile)
NM_206933.4(USH2A):c.506T>C (p.Val169Ala) rs2102784093
NM_206933.4(USH2A):c.5588T>C (p.Met1863Thr)
NM_206933.4(USH2A):c.5666A>G (p.Asp1889Gly) rs775803174
NM_206933.4(USH2A):c.6383G>A (p.Cys2128Tyr)
NM_206933.4(USH2A):c.6835G>C (p.Asp2279His) rs1421761057
NM_206933.4(USH2A):c.7054C>T (p.Pro2352Ser)
NM_206933.4(USH2A):c.7234G>A (p.Val2412Met)
NM_206933.4(USH2A):c.7939C>T (p.Pro2647Ser) rs1414367127
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly) rs762869685
NM_206933.4(USH2A):c.9014G>C (p.Ser3005Thr) rs1553268568
NM_206933.4(USH2A):c.907C>T (p.Arg303Cys)
NM_206937.2(LIG4):c.2612G>A (p.Arg871His)
NM_206965.2(FTCD):c.1373_1375del (p.Val458del)
NM_206965.2(FTCD):c.1537dup (p.Gln513fs)
NM_207034.3(EDN3):c.674_675del (p.Pro225fs)
NM_207037.2(TCF12):c.527-6C>A rs936573930
NM_207037.2(TCF12):c.904A>G (p.Thr302Ala) rs775936474
NM_207346.3(TSEN54):c.285G>C (p.Ala95=)
NM_207361.6(FREM2):c.5059_5060inv (p.Glu1687Ser)
NM_207361.6(FREM2):c.5768-17A>G rs2137831378
NM_207361.6(FREM2):c.9007-1G>A
NM_207361.6(FREM2):c.9019C>T (p.Arg3007Ter)
NM_207581.4(DUOXA2):c.149G>A (p.Arg50His)
NM_207581.4(DUOXA2):c.671T>C (p.Leu224Ser)
NM_207581.4(DUOXA2):c.778_779del (p.Cys260fs) rs751628515
NM_207581.4(DUOXA2):c.78C>G (p.Ile26Met)
NM_212481.3(ARID5A):c.240_241del (p.His81fs)
NM_212481.3(ARID5A):c.241_242del (p.His81fs)
NM_212482.4(FN1):c.2686C>T (p.Gln896Ter)
NM_212482.4(FN1):c.340C>G (p.Arg114Gly)
NM_212550.5(BLOC1S3):c.124G>T (p.Gly42Cys)
NM_212550.5(BLOC1S3):c.437T>A (p.Leu146Gln) rs1969484326
NM_213599.3(ANO5):c.950C>A (p.Ala317Glu)
NM_213653.4(HJV):c.820G>A (p.Val274Met)
NM_213720.3(CHCHD10):c.335del (p.Cys112fs) rs1926784873
NR_003051.3(RMRP):n.-20C>T rs183974004
NR_003051.3(RMRP):n.-6G>C rs191438045
NR_003051.3(RMRP):n.157_159delinsCTG
NR_003051.4(RMRP):n.107C>G
NR_003051.4(RMRP):n.11T>C rs748814304
NR_003051.4(RMRP):n.144G>A rs113967059
NR_003051.4(RMRP):n.184G>A rs1554651153
NR_003051.4(RMRP):n.19_20insA
NR_003051.4(RMRP):n.216A>G rs886041234
NR_003051.4(RMRP):n.217G>A
NR_003051.4(RMRP):n.219C>T
NR_003051.4(RMRP):n.242A>C rs1038523315
NR_003051.4(RMRP):n.254T>G
NR_003051.4(RMRP):n.262G>A rs769080777
NR_003051.4(RMRP):n.52C>T rs1064793373
NR_003051.4(RMRP):n.63G>A rs544069410
NR_003051.4(RMRP):n.63G>C rs544069410
NR_003051.4(RMRP):n.87C>T rs545284014

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