ClinVar Miner

List of variants reported by New York Genome Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4735
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HGVS dbSNP gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03738
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe) rs569543350 0.02637
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120 0.01412
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01288
NM_001321218.2(B9D1):c.473-1G>C rs73980009 0.01140
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00940
NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn) rs2231752 0.00491
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00475
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr) rs151098394 0.00465
NM_000518.4(HBB):c.19G>A (p.Glu7Lys) rs33930165 0.00414
NM_021969.3(NR0B2):c.473G>A (p.Ser158Asn) rs151014108 0.00413
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00398
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe) rs116262072 0.00392
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00378
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00364
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00347
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00342
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00337
NM_022773.4(LMF1):c.514+2452G>A rs559176411 0.00335
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly) rs114557412 0.00326
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser) rs547565552 0.00316
NM_033419.5(PGAP3):c.*559C>T rs183208638 0.00300
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser) rs114755364 0.00299
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met) rs113298164 0.00288
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) rs35819696 0.00287
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00279
NM_016034.5(MRPS2):c.848G>A (p.Gly283Glu) rs138712673 0.00277
NM_024704.5(KIF16B):c.1754A>C (p.Asn585Thr) rs114232301 0.00272
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) rs77138370 0.00251
NM_001384317.1(ZHX3):c.2249A>T (p.Asp750Val) rs147861291 0.00246
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_018100.4(EFHC1):c.685T>C (p.Phe229Leu) rs137852776 0.00242
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00224
NM_007315.4(STAT1):c.793A>G (p.Ile265Val) rs148775168 0.00223
NM_004525.3(LRP2):c.11663G>A (p.Arg3888His) rs77686710 0.00218
NM_003244.4(TGIF1):c.16+1499T>C rs148390122 0.00215
NM_001292063.2(OTOG):c.7009G>C (p.Val2337Leu) rs540794663 0.00210
NM_014639.4(SKIC3):c.3875C>G (p.Thr1292Ser) rs138956788 0.00205
NM_001277115.2(DNAH11):c.11839+219T>G rs191753047 0.00203
NM_181426.2(CCDC39):c.1363-3del rs551191744 0.00199
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00198
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly) rs35573508 0.00192
NM_020759.3(STARD9):c.10480G>A (p.Val3494Ile) rs143444286 0.00190
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00188
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg) rs57443665 0.00186
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00186
NM_000236.3(LIPC):c.89-4G>A rs184587533 0.00184
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_018941.4(CLN8):c.11C>T (p.Ala4Val) rs147181589 0.00175
NM_000939.4(POMC):c.158A>G (p.Asp53Gly) rs28932470 0.00173
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys) rs34832477 0.00166
NM_194454.3(KRIT1):c.*137del rs543954194 0.00165
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00164
NM_001379659.1(ZNF142):c.3640G>A (p.Glu1214Lys) rs201639604 0.00161
NM_005502.4(ABCA1):c.2543-3C>T rs139457469 0.00159
NM_024740.2(ALG9):c.1603-509A>G rs115136012 0.00159
NM_000439.5(PCSK1):c.1918A>G (p.Thr640Ala) rs139453594 0.00157
NM_004481.5(GALNT2):c.648A>T (p.Gln216His) rs142046356 0.00155
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg) rs114782902 0.00155
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_005502.4(ABCA1):c.4464+398C>T rs555837658 0.00146
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_001042413.2(GLIS3):c.496C>G (p.Pro166Ala) rs141467694 0.00138
NM_194454.3(KRIT1):c.*132T>G rs572414111 0.00138
NM_000384.3(APOB):c.5066G>A (p.Arg1689His) rs151009667 0.00137
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln) rs111722949 0.00135
NM_001378418.1(TCF20):c.*44+8G>A rs141457938 0.00133
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00131
NM_001004320.2(AGMO):c.653C>T (p.Pro218Leu) rs150962030 0.00131
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00131
NM_020661.4(AICDA):c.427+4C>T rs201180477 0.00130
NM_001267550.2(TTN):c.35409T>G (p.Ile11803Met) rs186992412 0.00129
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala) rs201210527 0.00127
NM_001372.4(DNAH9):c.2066C>T (p.Thr689Met) rs145074455 0.00126
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00123
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser) rs79179577 0.00123
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) rs144973796 0.00121
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu) rs147577332 0.00118
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923 0.00116
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile) rs147638245 0.00116
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00116
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) rs1800496 0.00115
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln) rs144452782 0.00115
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) rs138744839 0.00115
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928 0.00113
NM_001365999.1(SZT2):c.4727G>A (p.Arg1576His) rs143935839 0.00113
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00112
NM_032730.5(RTN4IP1):c.5A>C (p.Glu2Ala) rs138612238 0.00110
NM_000384.3(APOB):c.307T>C (p.Tyr103His) rs9282603 0.00108
NM_024119.3(DHX58):c.472C>T (p.Gln158Ter) rs148863728 0.00107
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_000787.4(DBH):c.339+2T>C rs74853476 0.00105
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His) rs147330179 0.00104
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser) rs139491925 0.00104
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) rs201889290 0.00103
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr) rs140690030 0.00103
NM_000384.3(APOB):c.7612C>T (p.Leu2538=) rs72653093 0.00102
NM_001366110.1(PAX4):c.-101_-100+2del rs558220333 0.00102
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile) rs140505857 0.00102
NM_004279.3(PMPCB):c.1462C>T (p.Arg488Cys) rs151236121 0.00101
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) rs80232004 0.00101
NM_000383.4(AIRE):c.1322C>T (p.Thr441Met) rs72650677 0.00100
NM_000219.6(KCNE1):c.-376-8A>T rs148689557 0.00099
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile) rs147358733 0.00098
NM_001144952.2(SDK2):c.2810G>A (p.Arg937Gln) rs144141099 0.00098
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln) rs111768745 0.00098
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_198428.3(BBS9):c.2521+951G>T rs543546818 0.00097
NM_004758.4(TSPOAP1):c.4964G>A (p.Arg1655Gln) rs147089668 0.00096
NM_004836.7(EIF2AK3):c.1264G>A (p.Ala422Thr) rs145427892 0.00096
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_177972.3(TUB):c.1388-10T>G rs150402974 0.00096
NM_017837.4(PIGV):c.349A>G (p.Ile117Val) rs142192097 0.00095
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln) rs142599919 0.00093
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_005883.3(APC2):c.3656C>T (p.Ala1219Val) rs137877386 0.00093
NM_005883.3(APC2):c.3979C>T (p.Pro1327Ser) rs535779056 0.00092
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00092
NM_001360.3(DHCR7):c.626+1013G>A rs533736438 0.00091
NM_001083116.3(PRF1):c.50del (p.Leu17fs) rs147035858 0.00090
NM_021008.4(DEAF1):c.1186G>A (p.Gly396Ser) rs138447102 0.00090
NM_004525.3(LRP2):c.6858T>A (p.Phe2286Leu) rs140918583 0.00089
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00088
NM_024700.4(SNIP1):c.174C>A (p.Ser58Arg) rs200160575 0.00088
NM_000302.4(PLOD1):c.137G>A (p.Arg46His) rs142710681 0.00087
NM_000236.3(LIPC):c.88+8C>A rs137926228 0.00086
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_174936.4(PCSK9):c.1171C>A (p.His391Asn) rs146471967 0.00086
NM_000439.5(PCSK1):c.1387G>A (p.Glu463Lys) rs143174906 0.00085
NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu) rs142248792 0.00085
NM_001277115.2(DNAH11):c.5761G>A (p.Glu1921Lys) rs199613080 0.00084
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly) rs151023718 0.00084
NM_022773.4(LMF1):c.718T>C (p.Phe240Leu) rs34295987 0.00084
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val) rs5397 0.00083
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu) rs199767066 0.00083
NM_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly) rs144732922 0.00082
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg) rs114286628 0.00080
NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu) rs146646020 0.00080
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu) rs150314450 0.00079
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser) rs533944505 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_001371904.1(APOA5):c.644C>T (p.Pro215Leu) rs76753536 0.00076
NM_001805.4(CEBPE):c.842G>A (p.Ser281Asn) rs149444043 0.00076
NM_005611.4(RBL2):c.2983A>G (p.Ser995Gly) rs199555150 0.00076
NM_018344.6(SLC29A3):c.946T>G (p.Phe316Val) rs139066012 0.00076
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn) rs147242592 0.00075
NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala) rs142036980 0.00074
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln) rs145210664 0.00074
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_022437.3(ABCG8):c.1411+8T>A rs201991639 0.00074
NM_001290043.2(TAP2):c.1776G>A (p.Met592Ile) rs147150415 0.00073
NM_001365999.1(SZT2):c.6343C>G (p.Pro2115Ala) rs147309177 0.00073
NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn) rs201473797 0.00073
NM_001144952.2(SDK2):c.6383G>A (p.Arg2128Gln) rs144452885 0.00072
NM_152730.6(TBC1D32):c.695G>A (p.Arg232Gln) rs181574808 0.00072
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00071
NM_001609.4(ACADSB):c.443C>T (p.Thr148Ile) rs58639322 0.00071
NM_000527.5(LDLR):c.*2210T>C rs73925118 0.00070
NM_001080397.3(SLC45A1):c.2009G>A (p.Arg670Gln) rs116783930 0.00070
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00070
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217 0.00068
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys) rs201816596 0.00067
NM_000246.4(CIITA):c.413T>C (p.Val138Ala) rs142469968 0.00066
NM_001244008.2(KIF1A):c.1208-40G>A rs375833834 0.00066
NM_018230.3(NUP133):c.1216C>T (p.Gln406Ter) rs142513540 0.00066
NM_001042413.2(GLIS3):c.1872C>T (p.Thr624=) rs140309338 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770 0.00064
NM_001379500.1(COL18A1):c.107-12210C>G rs201773944 0.00064
NM_025114.4(CEP290):c.1670G>A (p.Arg557His) rs184018899 0.00064
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys) rs143460342 0.00064
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_015202.5(KATNIP):c.2849C>T (p.Ser950Leu) rs71389806 0.00063
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp) rs148195424 0.00063
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val) rs2233583 0.00062
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00062
NM_005912.3(MC4R):c.335C>T (p.Thr112Met) rs13447329 0.00062
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861 0.00061
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp) rs140698625 0.00061
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_005535.3(IL12RB1):c.1768A>T (p.Ile590Phe) rs186935027 0.00060
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln) rs145844320 0.00060
NM_004525.3(LRP2):c.4928G>A (p.Arg1643Gln) rs147688332 0.00059
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783 0.00058
NM_001281740.3(FHOD3):c.1912C>T (p.Arg638Trp) rs141148037 0.00058
NM_003705.5(SLC25A12):c.2015del (p.Ala672fs) rs780650245 0.00058
NM_004714.3(DYRK1B):c.63+7G>A rs563238934 0.00058
NM_024782.3(NHEJ1):c.242G>A (p.Arg81His) rs140362488 0.00058
NM_001042413.2(GLIS3):c.1710+80188T>A rs528054105 0.00057
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_005535.3(IL12RB1):c.1451G>A (p.Arg484His) rs199661046 0.00057
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val) rs201214138 0.00057
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857 0.00056
NM_000939.4(POMC):c.-20-675A>G rs182121841 0.00056
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val) rs143778652 0.00056
NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala) rs191539779 0.00056
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00056
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu) rs530062090 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn) rs142143966 0.00055
NM_152564.5(VPS13B):c.1700G>A (p.Gly567Glu) rs141046414 0.00054
NM_203447.4(DOCK8):c.3312G>C (p.Glu1104Asp) rs138810908 0.00054
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_003721.4(RFXANK):c.706C>T (p.Arg236Trp) rs143964319 0.00053
NM_013450.4(BAZ2B):c.3418G>T (p.Val1140Leu) rs199640978 0.00053
NM_144992.5(VWA3B):c.544G>A (p.Val182Ile) rs367870902 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_025103.4(IFT74):c.902C>T (p.Pro301Leu) rs78753648 0.00052
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 0.00051
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His) rs368075745 0.00051
NM_022552.5(DNMT3A):c.640-1439G>A rs150451861 0.00051
NM_000162.5(GCK):c.483+26C>A rs142668032 0.00050
NM_000237.3(LPL):c.1379C>T (p.Ala460Val) rs150319057 0.00050
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00050
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_015370.2(C22orf31):c.53G>A (p.Arg18Gln) rs140235057 0.00050
NM_000207.3(INS):c.227G>A (p.Ser76Asn) rs139264769 0.00049
NM_001606.5(ABCA2):c.5026G>A (p.Gly1676Ser) rs184422644 0.00049
NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu) rs201685731 0.00049
NM_001267550.2(TTN):c.57370G>A (p.Val19124Ile) rs142841000 0.00048
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His) rs138738227 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr) rs564747350 0.00048
NM_001004320.2(AGMO):c.712G>T (p.Gly238Cys) rs139972453 0.00047
NM_001353345.2(SETD1B):c.4757T>G (p.Leu1586Arg) rs749126935 0.00047
NM_005045.4(RELN):c.139G>A (p.Glu47Lys) rs139648092 0.00047
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) rs142125966 0.00047
NM_152618.3(BBS12):c.1979C>T (p.Pro660Leu) rs147281546 0.00047
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser) rs113042313 0.00046
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964 0.00046
NM_001080397.3(SLC45A1):c.1178G>A (p.Gly393Asp) rs199862899 0.00046
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_022773.4(LMF1):c.1405G>A (p.Ala469Thr) rs181731943 0.00046
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter) rs104895564 0.00046
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr) rs143250090 0.00046
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) rs387906309 0.00045
NM_001349.4(DARS1):c.403G>A (p.Val135Ile) rs140573664 0.00045
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) rs144900514 0.00045
NM_173728.4(ARHGEF15):c.80G>A (p.Arg27His) rs199663714 0.00045
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu) rs146045390 0.00044
NM_004963.4(GUCY2C):c.1562A>G (p.Asn521Ser) rs143367522 0.00044
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu) rs150505248 0.00044
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269 0.00044
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_004722.4(AP4M1):c.407C>T (p.Thr136Met) rs138131967 0.00043
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met) rs141098495 0.00043
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) rs200176373 0.00043
NM_177972.3(TUB):c.358G>A (p.Gly120Ser) rs146650842 0.00043
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_004773.4(ZNHIT3):c.92C>T (p.Ser31Leu) rs148890852 0.00042
NM_007315.4(STAT1):c.722G>A (p.Arg241Gln) rs146273341 0.00042
NM_020987.5(ANK3):c.11678G>C (p.Ser3893Thr) rs12260663 0.00042
NM_000428.3(LTBP2):c.4912G>A (p.Val1638Met) rs137854860 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys) rs138576725 0.00041
NM_015331.3(NCSTN):c.996+7G>A rs202046846 0.00041
NM_000277.3(PAH):c.1315+1G>A rs5030861 0.00040
NM_001113498.3(MDGA2):c.335A>G (p.Glu112Gly) rs187498428 0.00040
NM_001160372.4(TRAPPC9):c.814C>A (p.Gln272Lys) rs144569575 0.00040
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) rs781777662 0.00040
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr) rs369777874 0.00040
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp) rs147098410 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_000083.3(CLCN1):c.1453A>G (p.Met485Val) rs146457619 0.00039
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys) rs201697532 0.00039
NM_000156.6(GAMT):c.570+4C>T rs199967562 0.00039
NM_000939.4(POMC):c.599_604dup (p.Ala201_Gln202insArgAla) rs762710034 0.00039
NM_001267550.2(TTN):c.36196G>A (p.Asp12066Asn) rs140655598 0.00039
NM_003041.4(SLC5A2):c.568G>A (p.Val190Met) rs138803748 0.00039
NM_007118.4(TRIO):c.9277C>T (p.Leu3093Phe) rs145985294 0.00039
NM_145207.3(AFG2A):c.637G>A (p.Asp213Asn) rs139066705 0.00039
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter) rs137852700 0.00038
NM_000718.4(CACNA1B):c.5455G>A (p.Ala1819Thr) rs200122209 0.00038
NM_001270974.2(HYDIN):c.488G>A (p.Arg163Gln) rs201503269 0.00038
NM_001365999.1(SZT2):c.6185G>A (p.Arg2062Gln) rs200443293 0.00038
NM_003809.3(TNFSF12):c.43G>A (p.Glu15Lys) rs768061768 0.00038
NM_000755.5(CRAT):c.817C>T (p.Arg273Trp) rs141122671 0.00037
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser) rs201971114 0.00037
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu) rs559917218 0.00037
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632 0.00037
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391 0.00036
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=) rs193922584 0.00036
NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln) rs374943049 0.00036
NM_012452.3(TNFRSF13B):c.604C>T (p.Arg202Cys) rs143562358 0.00036
NM_020987.5(ANK3):c.6555G>T (p.Gln2185His) rs144465058 0.00036
NM_024589.3(ROGDI):c.859T>C (p.Phe287Leu) rs149138180 0.00036
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val) rs273585625 0.00035
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) rs199946797 0.00035
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys) rs150851401 0.00034
NM_001003841.3(SLC6A19):c.1606G>A (p.Val536Met) rs145250153 0.00034
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453 0.00034
NM_194449.4(PHLPP1):c.1038C>G (p.Asp346Glu) rs769959686 0.00034
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val) rs145728297 0.00033
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00032
NM_001080517.3(SETD5):c.2866A>T (p.Thr956Ser) rs201868415 0.00032
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_020708.5(SLC12A5):c.2376T>C (p.Ile792=) rs201525976 0.00032
NM_025099.6(CTC1):c.1564C>T (p.Arg522Trp) rs199698527 0.00032
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962 0.00032
NM_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00031
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_001290043.2(TAP2):c.1655A>G (p.Glu552Gly) rs151064661 0.00031
NM_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser) rs144139818 0.00031
NM_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser) rs191172038 0.00031
NM_002139.4(RBMX):c.997G>T (p.Asp333Tyr) rs148934011 0.00031
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp) rs145602077 0.00031
NM_019023.5(PRMT7):c.1652G>A (p.Arg551His) rs148768244 0.00031
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro) rs143275144 0.00031
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_001199862.2(KCNAB2):c.113G>A (p.Arg38Gln) rs563117758 0.00030
NM_001301071.2(DOK7):c.1594G>A (p.Glu532Lys) rs754345718 0.00030
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val) rs200058166 0.00030
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys) rs151193009 0.00030
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter) rs113993959 0.00029
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_001609.4(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280 0.00029
NM_001626.6(AKT2):c.623G>A (p.Arg208Lys) rs35817154 0.00029
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr) rs121913563 0.00029
NM_006279.5(ST3GAL3):c.118+36C>G rs149404491 0.00029
NM_006295.3(VARS1):c.3115C>T (p.Gln1039Ter) rs765740144 0.00029
NM_013314.4(BLNK):c.94A>T (p.Ile32Leu) rs191065660 0.00029
NM_019023.5(PRMT7):c.2029G>A (p.Asp677Asn) rs368511164 0.00029
NM_145886.4(PIDD1):c.1173G>A (p.Gln391=) rs372742755 0.00029
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val) rs202052403 0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_001626.6(AKT2):c.212A>G (p.Asn71Ser) rs200272953 0.00028
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp) rs142530390 0.00028
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_017757.3(ZNF407):c.6288G>C (p.Gln2096His) rs373510945 0.00028
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly) rs201083157 0.00028
NM_138615.3(DHX30):c.2575+2dup rs773595533 0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00027
NM_001013839.4(EXOC7):c.1169A>T (p.Gln390Leu) rs138515854 0.00027
NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu) rs202142344 0.00027
NM_017909.4(RMND1):c.852G>C (p.Arg284Ser) rs139955178 0.00027
NM_018129.4(PNPO):c.542G>A (p.Arg181Gln) rs377328326 0.00027
NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu) rs150684410 0.00027
NM_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln) rs201921601 0.00027
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00026
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00026
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln) rs147182402 0.00026
NM_001379200.1(TBX1):c.1336C>T (p.Pro446Ser) rs201993443 0.00026
NM_002336.3(LRP6):c.2203G>A (p.Asp735Asn) rs149258721 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
NM_001220484.1(HEATR4):c.646C>T (p.Arg216Ter) rs149734041 0.00025
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser) rs202037973 0.00025
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala) rs139661242 0.00025
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile) rs147447659 0.00025
NM_016580.4(PCDH12):c.152A>G (p.Gln51Arg) rs138473035 0.00025
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr) rs147055570 0.00025
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys) rs370574933 0.00025
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 0.00025
NM_022773.4(LMF1):c.1138G>A (p.Val380Met) rs201734228 0.00025
NM_022773.4(LMF1):c.1530-1373C>G rs1000355362 0.00025
NM_172201.2(KCNE2):c.80G>A (p.Arg27His) rs148968498 0.00025
NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu) rs121912268 0.00024
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 0.00024
NM_001783.4(CD79A):c.134G>C (p.Ser45Thr) rs199603062 0.00024
NM_004667.6(HERC2):c.9992C>T (p.Thr3331Met) rs140440992 0.00024
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser) rs374716369 0.00024
NM_020759.3(STARD9):c.1771-2A>T rs763967566 0.00024
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile) rs202001245 0.00024
NM_000163.5(GHR):c.718T>C (p.Tyr240His) rs143814221 0.00023
NM_000236.3(LIPC):c.738_739dup (p.Gly247fs) rs749932377 0.00023
NM_001127644.2(GABRA1):c.-258T>C rs183280626 0.00023
NM_001130053.5(EEF1D):c.1156G>A (p.Asp386Asn) rs140890236 0.00023
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707 0.00023
NM_001371986.1(UNC80):c.9877G>A (p.Glu3293Lys) rs199783352 0.00023
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr) rs191233787 0.00023
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) rs541943893 0.00023
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr) rs149441561 0.00023
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile) rs139394414 0.00023
NM_000237.3(LPL):c.644G>A (p.Gly215Glu) rs118204057 0.00022
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser) rs142063461 0.00022
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_001042681.2(RERE):c.3094C>T (p.Pro1032Ser) rs560145297 0.00022
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00022
NM_001382567.1(STIM1):c.458C>T (p.Thr153Ile) rs144602692 0.00022
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp) rs144387303 0.00022
NM_006005.3(WFS1):c.2266C>T (p.Arg756Cys) rs138127684 0.00022
NM_018451.5(CPAP):c.3080A>G (p.Gln1027Arg) rs141237492 0.00022
NM_020971.3(SPTBN4):c.1798C>T (p.Arg600Cys) rs148286750 0.00022
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter) rs370032864 0.00022
NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys) rs145110365 0.00022
NM_033028.5(BBS4):c.864G>A (p.Ala288=) rs141345544 0.00022
NM_170784.3(MKKS):c.1098T>A (p.Asn366Lys) rs147882975 0.00022
NM_177972.3(TUB):c.364G>A (p.Ala122Thr) rs201324153 0.00022
NM_000065.5(C6):c.143G>A (p.Arg48Lys) rs145422926 0.00021
NM_000136.3(FANCC):c.456+4A>T rs104886456 0.00021
NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His) rs868845088 0.00021
NM_001080414.4(CCDC88C):c.925C>T (p.Arg309Cys) rs767030060 0.00021
NM_001376256.1(CRYM):c.943T>C (p.Ter315Gln) rs140779001 0.00021
NM_005214.5(CTLA4):c.23G>A (p.Arg8Gln) rs138279736 0.00021
NM_005957.5(MTHFR):c.3G>C (p.Met1Ile) rs373076763 0.00021
NM_006295.3(VARS1):c.972+3G>A rs113683625 0.00021
NM_006440.5(TXNRD2):c.949+222C>T rs376616232 0.00021
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly) rs200683397 0.00021
NM_020208.4(SLC6A20):c.1447G>A (p.Val483Met) rs146575685 0.00021
NM_032776.3(JMJD1C):c.4913C>T (p.Ser1638Leu) rs143177790 0.00021
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val) rs141638933 0.00021
NM_001004127.3(ALG11):c.406C>T (p.Arg136Cys) rs150101415 0.00020
NM_001366385.1(CARD14):c.2320G>A (p.Val774Ile) rs138833596 0.00020
NM_002055.5(GFAP):c.329C>G (p.Thr110Ser) rs147282497 0.00020
NM_003070.5(SMARCA2):c.2348+8A>C rs771019219 0.00020
NM_006059.4(LAMC3):c.340T>G (p.Tyr114Asp) rs764924966 0.00020
NM_017777.4(MKS1):c.418-79G>T rs190815007 0.00020
NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile) rs369028313 0.00020
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu) rs141065357 0.00020
NM_152618.3(BBS12):c.1502C>T (p.Thr501Met) rs138011813 0.00020
NM_178161.3(PTF1A):c.44C>T (p.Ala15Val) rs140097468 0.00020
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu) rs190298665 0.00019
NM_000384.3(APOB):c.13444A>G (p.Ile4482Val) rs142702699 0.00019
NM_000718.4(CACNA1B):c.6260C>T (p.Pro2087Leu) rs200308291 0.00019
NM_000939.4(POMC):c.-21+8C>A rs867377524 0.00019
NM_001042603.3(KDM5A):c.308C>G (p.Ser103Cys) rs200969654 0.00019
NM_001177643.3(DAG1):c.-117+1G>T rs992005563 0.00019
NM_001242896.3(DEPDC5):c.161A>C (p.Gln54Pro) rs201312113 0.00019
NM_001244008.2(KIF1A):c.3234C>A (p.Ser1078Arg) rs553976598 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg) rs148697064 0.00019
NM_001379659.1(ZNF142):c.4880C>T (p.Pro1627Leu) rs866857892 0.00019
NM_001387690.1(KATNAL2):c.1356G>T (p.Glu452Asp) rs773126520 0.00019
NM_003331.5(TYK2):c.1238C>T (p.Ala413Val) rs138661716 0.00019
NM_003922.4(HERC1):c.577A>G (p.Ile193Val) rs768690717 0.00019
NM_005045.4(RELN):c.6278A>C (p.His2093Pro) rs149152189 0.00019
NM_005502.4(ABCA1):c.6118A>G (p.Lys2040Glu) rs150283412 0.00019
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His) rs200657425 0.00019
NM_012414.4(RAB3GAP2):c.1580C>T (p.Pro527Leu) rs149563712 0.00019
NM_014334.4(FRRS1L):c.589T>G (p.Phe197Val) rs145737336 0.00019
NM_018669.6(WDR4):c.73A>G (p.Thr25Ala) rs140624673 0.00019
NM_018941.4(CLN8):c.619C>G (p.Leu207Val) rs151334741 0.00019
NM_019066.5(MAGEL2):c.717G>A (p.Met239Ile) rs552582918 0.00019
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn) rs767667188 0.00019
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln) rs202160208 0.00019
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys) rs149626732 0.00019
NM_173630.4(RTTN):c.1741A>G (p.Ser581Gly) rs375800180 0.00019
NM_206937.2(LIG4):c.712A>G (p.Ile238Val) rs149012859 0.00019
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00018
NM_001348716.2(KDM6B):c.2703_2705del (p.Leu902del) rs755422164 0.00018
NM_005199.5(CHRNG):c.439C>T (p.Arg147Cys) rs754928609 0.00018
NM_014159.7(SETD2):c.3659C>A (p.Thr1220Asn) rs764195998 0.00018
NM_015466.4(PTPN23):c.2779G>A (p.Gly927Arg) rs142297724 0.00018
NM_016059.5(PPIL1):c.316G>A (p.Asp106Asn) rs939738054 0.00018
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00017
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser) rs140202046 0.00017
NM_001080432.3(FTO):c.238C>T (p.Arg80Trp) rs140101381 0.00017
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp) rs142667203 0.00017
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys) rs148018042 0.00017
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00017
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser) rs202006479 0.00017
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile) rs149496322 0.00017
NM_001379500.1(COL18A1):c.1261C>T (p.Pro421Ser) rs375265466 0.00017
NM_005184.4(CALM3):c.421+4A>G rs373529765 0.00017
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys) rs201352584 0.00017
NM_014495.4(ANGPTL3):c.956A>G (p.Lys319Arg) rs372222044 0.00017
NM_015910.7(WDPCP):c.1079C>T (p.Ser360Leu) rs141011629 0.00017
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00017
NM_138711.6(PPARG):c.391-3C>T rs370830238 0.00017
NM_173560.4(RFX6):c.389A>G (p.Glu130Gly) rs145678004 0.00017
NM_000237.3(LPL):c.1325T>G (p.Val442Gly) rs116403115 0.00016
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser) rs142756262 0.00016
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn) rs200982385 0.00016
NM_001040616.3(LINS1):c.725C>G (p.Thr242Ser) rs149958643 0.00016
NM_001080.3(ALDH5A1):c.1308T>G (p.His436Gln) rs199500997 0.00016
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00016
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn) rs201121146 0.00016
NM_001378120.1(MBD5):c.1234G>A (p.Val412Ile) rs761118931 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002024.6(FMR1):c.413G>A (p.Arg138Gln) rs200163413 0.00016
NM_005502.4(ABCA1):c.1765G>A (p.Val589Ile) rs200928212 0.00016
NM_005720.4(ARPC1B):c.932C>G (p.Ser311Cys) rs200946215 0.00016
NM_006059.4(LAMC3):c.4256G>A (p.Arg1419Gln) rs201597071 0.00016
NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser) rs201741917 0.00016
NM_007118.4(TRIO):c.7922A>C (p.Lys2641Thr) rs200539540 0.00016
NM_014141.6(CNTNAP2):c.3154C>T (p.Arg1052Cys) rs139930720 0.00016
NM_015047.3(EMC1):c.2455G>A (p.Ala819Thr) rs371524055 0.00016
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr) rs201856473 0.00016
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00016
NM_032730.5(RTN4IP1):c.254C>T (p.Pro85Leu) rs193121821 0.00016
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser) rs374876799 0.00015
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00015
NM_000352.6(ABCC8):c.1672-473T>G rs778678067 0.00015
NM_001040142.2(SCN2A):c.5468A>C (p.Asp1823Ala) rs138497939 0.00015
NM_001127392.3(MYRF):c.2764+3A>G rs370007301 0.00015
NM_001163809.2(WDR81):c.4778T>C (p.Leu1593Pro) rs149405514 0.00015
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp) rs201139273 0.00015
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val) rs201728850 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001807.6(CEL):c.472G>A (p.Val158Met) rs190538939 0.00015
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167 0.00015
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00015
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His) rs190037522 0.00015
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu) rs367981585 0.00015
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00015
NM_017934.7(PHIP):c.5263G>C (p.Glu1755Gln) rs563243550 0.00015
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met) rs149418765 0.00015
NM_139057.4(ADAMTS17):c.3100G>A (p.Ala1034Thr) rs527897248 0.00015
NM_144666.3(DNHD1):c.13456G>A (p.Glu4486Lys) rs199873868 0.00015
NM_000138.5(FBN1):c.4001G>A (p.Gly1334Asp) rs191989961 0.00014
NM_000939.4(POMC):c.26C>T (p.Ser9Leu) rs139750421 0.00014
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln) rs774604596 0.00014
NM_001267550.2(TTN):c.14869A>C (p.Thr4957Pro) rs780405420 0.00014
NM_001394998.1(TANC2):c.1894A>G (p.Ile632Val) rs372829353 0.00014
NM_001920.5(DCN):c.621T>G (p.Ile207Met) rs373676217 0.00014
NM_003041.4(SLC5A2):c.885+5G>A rs200228142 0.00014
NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly) rs200866298 0.00014
NM_003705.5(SLC25A12):c.930+3dup rs746487507 0.00014
NM_004279.3(PMPCB):c.661A>G (p.Ile221Val) rs149104855 0.00014
NM_004793.4(LONP1):c.296G>A (p.Gly99Asp) rs747867148 0.00014
NM_006514.4(SCN10A):c.4581G>A (p.Met1527Ile) rs369978695 0.00014
NM_018896.5(CACNA1G):c.3197C>T (p.Ser1066Leu) rs577659325 0.00014
NM_020971.3(SPTBN4):c.6113A>G (p.Asp2038Gly) rs1279770682 0.00014
NM_022773.4(LMF1):c.1471G>A (p.Asp491Asn) rs532127028 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_198252.3(GSN):c.1326-1036C>T rs761459356 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg) rs199473669 0.00013
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu) rs148502464 0.00013
NM_001042413.2(GLIS3):c.2339G>A (p.Arg780Gln) rs200694226 0.00013
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile) rs367664536 0.00013
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile) rs149412531 0.00013
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001184880.2(PCDH19):c.2501A>G (p.Asn834Ser) rs766355858 0.00013
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00013
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu) rs199604280 0.00013
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn) rs558814304 0.00013
NM_002470.4(MYH3):c.2341C>T (p.Arg781Cys) rs372983228 0.00013
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile) rs140414666 0.00013
NM_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe) rs996297395 0.00013
NM_004713.6(NEMF):c.1744+6A>G rs368259188 0.00013
NM_006005.3(WFS1):c.124C>T (p.Arg42Ter) rs71530923 0.00013
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val) rs202061089 0.00013
NM_018941.4(CLN8):c.200C>T (p.Ala67Val) rs373957283 0.00013
NM_020928.2(ZSWIM6):c.1770A>G (p.Ile590Met) rs976654292 0.00013
NM_021224.6(ZNF462):c.4261G>A (p.Glu1421Lys) rs146639350 0.00013
NM_024649.5(BBS1):c.1474-8C>T rs398124402 0.00013
NM_025114.4(CEP290):c.671C>T (p.Thr224Ile) rs200587974 0.00013
NM_031215.3(CABLES2):c.383G>A (p.Arg128His) rs555344970 0.00013
NM_033026.6(PCLO):c.9008G>T (p.Gly3003Val) rs201925292 0.00013
NM_139318.5(KCNH5):c.1579A>T (p.Ile527Phe) rs149561461 0.00013
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu) rs142516047 0.00013
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273 0.00013
NM_000352.6(ABCC8):c.823-8C>T rs201000679 0.00012
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys) rs560167568 0.00012
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu) rs372018476 0.00012
NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser) rs761479779 0.00012
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001378120.1(MBD5):c.763C>T (p.Pro255Ser) rs183855575 0.00012
NM_001385012.1(NBEA):c.6743A>G (p.Lys2248Arg) rs757249160 0.00012
NM_002471.4(MYH6):c.346-2A>G rs141187241 0.00012
NM_004260.4(RECQL4):c.2464-1G>C rs398124117 0.00012
NM_005618.4(DLL1):c.406G>A (p.Ala136Thr) rs146990317 0.00012
NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys) rs200013015 0.00012
NM_014712.3(SETD1A):c.3236C>T (p.Pro1079Leu) rs200812185 0.00012
NM_015559.3(SETBP1):c.3593C>T (p.Pro1198Leu) rs200960707 0.00012
NM_018013.4(SOBP):c.622G>A (p.Ala208Thr) rs374186706 0.00012
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys) rs760308715 0.00012
NM_024649.5(BBS1):c.200G>A (p.Arg67His) rs145718265 0.00012
NM_030912.3(TRIM8):c.1456C>G (p.Pro486Ala) rs552806334 0.00012
NM_173648.4(CCDC141):c.538C>T (p.Arg180Trp) rs768401425 0.00012
NM_198428.3(BBS9):c.1790-1091A>G rs925605225 0.00012
NM_000066.4(C8B):c.407G>A (p.Arg136His) rs200374059 0.00011
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn) rs367974472 0.00011
NM_000384.3(APOB):c.400G>T (p.Ala134Ser) rs368321279 0.00011
NM_000414.4(HSD17B4):c.790A>G (p.Met264Val) rs149283499 0.00011
NM_000525.4(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531 0.00011
NM_000702.4(ATP1A2):c.8G>A (p.Arg3His) rs781687346 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_001042413.2(GLIS3):c.187C>T (p.Pro63Ser) rs537067524 0.00011
NM_001267550.2(TTN):c.76673A>T (p.Asp25558Val) rs201095164 0.00011
NM_001353921.2(ARHGEF9):c.*2684A>G rs189661969 0.00011
NM_001365999.1(SZT2):c.9388C>T (p.Arg3130Trp) rs773708821 0.00011
NM_001367479.1(DNAH14):c.9698C>T (p.Ala3233Val) rs745928222 0.00011
NM_001369.3(DNAH5):c.10731C>G (p.Asn3577Lys) rs376292253 0.00011
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser) rs376756158 0.00011
NM_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp) rs199615803 0.00011
NM_001385.3(DPYS):c.1423C>T (p.Arg475Ter) rs61758444 0.00011
NM_001386298.1(CIC):c.6292G>A (p.Val2098Met) rs202242046 0.00011
NM_001393530.1(MATN4):c.1688-7C>A rs200891394 0.00011
NM_001753.5(CAV1):c.236A>G (p.His79Arg) rs376004565 0.00011
NM_001807.6(CEL):c.358G>A (p.Val120Ile) rs201336247 0.00011
NM_001909.5(CTSD):c.592A>G (p.Ile198Val) rs556334193 0.00011
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter) rs397515426 0.00011
NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys) rs201278558 0.00011
NM_005912.3(MC4R):c.806T>A (p.Ile269Asn) rs79783591 0.00011
NM_006412.4(AGPAT2):c.151C>T (p.Arg51Cys) rs559044334 0.00011
NM_014495.4(ANGPTL3):c.1028A>G (p.His343Arg) rs199555921 0.00011
NM_014495.4(ANGPTL3):c.995G>A (p.Arg332Gln) rs192778191 0.00011
NM_015275.3(WASHC4):c.154T>G (p.Ser52Ala) rs376604258 0.00011
NM_015466.4(PTPN23):c.4258G>C (p.Glu1420Gln) rs141407213 0.00011
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968 0.00011
NM_016097.5(IER3IP1):c.223A>G (p.Ile75Val) rs536988795 0.00011
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys) rs373430024 0.00011
NM_016327.3(UPB1):c.225G>T (p.Gly75=) rs150740488 0.00011
NM_020719.3(PRR12):c.2123C>T (p.Ala708Val) rs531265357 0.00011
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_022437.3(ABCG8):c.1549T>C (p.Trp517Arg) rs142165666 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024589.3(ROGDI):c.691A>G (p.Met231Val) rs137934107 0.00011
NM_138927.4(SON):c.3785C>T (p.Thr1262Ile) rs144772325 0.00011
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866 0.00011
NM_170665.4(ATP2A2):c.1924G>A (p.Gly642Arg) rs373030579 0.00011
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673 0.00011
NM_000080.4(CHRNE):c.710G>T (p.Arg237Leu) rs201434993 0.00010
NM_000286.3(PEX12):c.681-2A>C rs187526749 0.00010
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00010
NM_001080453.3(INTS1):c.3679G>C (p.Glu1227Gln) rs758158889 0.00010
NM_001267550.2(TTN):c.266C>G (p.Ala89Gly) rs200165636 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001385012.1(NBEA):c.5279G>A (p.Cys1760Tyr) rs372882596 0.00010
NM_002471.4(MYH6):c.-46-40G>A rs765636449 0.00010
NM_002490.6(NDUFA6):c.387A>C (p.Ter129Cys) rs552658891 0.00010
NM_004836.7(EIF2AK3):c.928A>T (p.Ile310Leu) rs191277311 0.00010
NM_005068.3(SIM1):c.-468+6T>A rs181096761 0.00010
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln) rs199734772 0.00010
NM_005505.5(SCARB1):c.83T>C (p.Met28Thr) rs77554031 0.00010
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) rs376208769 0.00010
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs) rs766372684 0.00010
NM_007254.4(PNKP):c.1298+6G>A rs578207030 0.00010
NM_014159.7(SETD2):c.1180T>C (p.Cys394Arg) rs368465960 0.00010
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00010
NM_017757.3(ZNF407):c.41A>G (p.Glu14Gly) rs762941748 0.00010
NM_018297.4(NGLY1):c.717A>C (p.Glu239Asp) rs754083716 0.00010
NM_021956.5(GRIK2):c.1628G>A (p.Arg543His) rs141189363 0.00010
NM_024685.4(BBS10):c.1590A>C (p.Arg530Ser) rs146812823 0.00010
NM_025114.4(CEP290):c.3773A>G (p.Asn1258Ser) rs200830750 0.00010
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905 0.00010
NM_025114.4(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908 0.00010
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro) rs138043021 0.00010
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter) rs121908177 0.00010
NM_139318.5(KCNH5):c.2789C>T (p.Ala930Val) rs562140660 0.00010
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met) rs367831580 0.00010
NM_176787.5(PIGN):c.2413G>A (p.Ala805Thr) rs771022458 0.00010
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys) rs375665715 0.00009
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954 0.00009
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile) rs363802 0.00009
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys) rs201217052 0.00009
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His) rs146848219 0.00009
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp) rs144467873 0.00009
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr) rs780170292 0.00009
NM_001161352.2(KCNMA1):c.2092+3781T>C rs973739483 0.00009
NM_001161352.2(KCNMA1):c.2165C>T (p.Ser722Leu) rs373620901 0.00009
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp) rs121917973 0.00009
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly) rs150725992 0.00009
NM_001286646.2(SLC45A4):c.1108G>A (p.Asp370Asn) rs569786400 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln) rs374546223 0.00009
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377 0.00009
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu) rs914898490 0.00009
NM_001387690.1(KATNAL2):c.736C>A (p.Leu246Ile) rs746242557 0.00009
NM_001792.5(CDH2):c.1306G>A (p.Asp436Asn) rs142861371 0.00009
NM_002293.4(LAMC1):c.1640T>C (p.Ile547Thr) rs147837140 0.00009
NM_003073.5(SMARCB1):c.628+1487A>G rs185591492 0.00009
NM_003482.4(KMT2D):c.6392C>A (p.Thr2131Asn) rs587778463 0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004836.7(EIF2AK3):c.328A>G (p.Thr110Ala) rs139901728 0.00009
NM_005045.4(RELN):c.4495G>C (p.Asp1499His) rs200428576 0.00009
NM_005045.4(RELN):c.8005G>A (p.Val2669Ile) rs375985673 0.00009
NM_005502.4(ABCA1):c.6599G>A (p.Arg2200Gln) rs751669145 0.00009
NM_005739.4(RASGRP1):c.1159T>C (p.Tyr387His) rs750396457 0.00009
NM_005853.6(IRX5):c.800C>G (p.Pro267Arg) rs770467831 0.00009
NM_006030.4(CACNA2D2):c.391G>A (p.Val131Met) rs199936910 0.00009
NM_006267.5(RANBP2):c.6431G>A (p.Arg2144Gln) rs550357048 0.00009
NM_006618.5(KDM5B):c.2474+1G>A rs542983923 0.00009
NM_006734.4(HIVEP2):c.4276C>T (p.Pro1426Ser) rs373621115 0.00009
NM_014491.4(FOXP2):c.2084A>C (p.His695Pro) rs928369081 0.00009
NM_015087.5(SPART):c.364_365del (p.Met122fs) rs775736341 0.00009
NM_015275.3(WASHC4):c.2423G>A (p.Arg808Gln) rs746822124 0.00009
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly) rs202131370 0.00009
NM_018082.6(POLR3B):c.3390G>C (p.Lys1130Asn) rs201527706 0.00009
NM_020987.5(ANK3):c.3488A>G (p.Gln1163Arg) rs746416574 0.00009
NM_021098.3(CACNA1H):c.3643C>T (p.Arg1215Cys) rs756154211 0.00009
NM_021098.3(CACNA1H):c.5818G>C (p.Ala1940Pro) rs61742096 0.00009
NM_022773.4(LMF1):c.901G>A (p.Val301Ile) rs183552168 0.00009
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys) rs142297424 0.00009
NM_025103.4(IFT74):c.1343G>A (p.Arg448His) rs200923828 0.00009
NM_032898.5(CEP19):c.283C>T (p.Arg95Trp) rs201163650 0.00009
NM_052867.4(NALCN):c.4961G>A (p.Arg1654Gln) rs199629052 0.00009
NM_052876.4(NACC1):c.1537G>A (p.Ala513Thr) rs201811994 0.00009
NM_144687.4(NLRP12):c.2575C>T (p.Arg859Trp) rs573629753 0.00009
NM_145886.4(PIDD1):c.2042-2A>G rs199752248 0.00009
NM_152564.5(VPS13B):c.2847A>G (p.Ile949Met) rs398124331 0.00009
NM_172201.2(KCNE2):c.369_370del (p.Ter124IleextTer?) rs45610936 0.00009
NM_182641.4(BPTF):c.6409C>A (p.Pro2137Thr) rs200697649 0.00009
NM_000352.6(ABCC8):c.375C>G (p.His125Gln) rs60637558 0.00008
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr) rs139459124 0.00008
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter) rs200056620 0.00008
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr) rs533884784 0.00008
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser) rs752578570 0.00008
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674 0.00008
NM_001365999.1(SZT2):c.3187G>T (p.Val1063Leu) rs369627050 0.00008
NM_001374828.1(ARID1B):c.1337C>T (p.Ala446Val) rs748273011 0.00008
NM_001379291.1(BRD4):c.898A>G (p.Ile300Val) rs200397485 0.00008
NM_001690.4(ATP6V1A):c.596T>C (p.Val199Ala) rs138543954 0.00008
NM_004004.6(GJB2):c.283G>A (p.Val95Met) rs111033299 0.00008
NM_004525.3(LRP2):c.7514G>A (p.Arg2505His) rs371708810 0.00008
NM_005502.4(ABCA1):c.1390G>A (p.Val464Met) rs563149622 0.00008
NM_005909.5(MAP1B):c.4357C>G (p.Leu1453Val) rs746742166 0.00008
NM_005993.5(TBCD):c.2693C>T (p.Thr898Ile) rs375374940 0.00008
NM_006231.4(POLE):c.446A>G (p.Lys149Arg) rs374428362 0.00008
NM_006922.4(SCN3A):c.2391+3A>G rs369416840 0.00008
NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met) rs149569330 0.00008
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr) rs572757800 0.00008
NM_015559.3(SETBP1):c.3876C>G (p.Asp1292Glu) rs139106261 0.00008
NM_016034.5(MRPS2):c.14C>T (p.Ser5Leu) rs770946612 0.00008
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met) rs200435907 0.00008
NM_018129.4(PNPO):c.322C>T (p.Arg108Cys) rs746311862 0.00008
NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg) rs767717573 0.00008
NM_020822.3(KCNT1):c.1718G>A (p.Arg573His) rs575162600 0.00008
NM_022437.3(ABCG8):c.1386C>T (p.Asn462=) rs371163697 0.00008
NM_182641.4(BPTF):c.4927A>C (p.Ser1643Arg) rs538862924 0.00008
NM_205768.3(ZBTB18):c.896A>G (p.Tyr299Cys) rs528142333 0.00008
NM_000040.3(APOC3):c.148G>A (p.Val50Met) rs201803883 0.00007
NM_000110.4(DPYD):c.220C>T (p.Arg74Ter) rs189768576 0.00007
NM_000168.6(GLI3):c.3734A>G (p.His1245Arg) rs372740903 0.00007
NM_000171.4(GLRA1):c.1325G>A (p.Arg442His) rs200130685 0.00007
NM_000181.4(GUSB):c.526C>T (p.Leu176Phe) rs121918181 0.00007
NM_000229.2(LCAT):c.35C>T (p.Thr12Met) rs560140762 0.00007
NM_000352.6(ABCC8):c.343A>G (p.Met115Val) rs146695489 0.00007
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr) rs369310292 0.00007
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val) rs200034452 0.00007
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp) rs149306841 0.00007
NM_000527.5(LDLR):c.*1356C>T rs886054173 0.00007
NM_000545.8(HNF1A):c.341G>A (p.Arg114His) rs139016696 0.00007
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp) rs115231482 0.00007
NM_001061.7(TBXAS1):c.1420G>A (p.Ala474Thr) rs535281830 0.00007
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter) rs118203982 0.00007
NM_001083961.2(WDR62):c.2765G>A (p.Arg922His) rs749718711 0.00007
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys) rs121908235 0.00007
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_001206999.2(CIT):c.2087G>A (p.Arg696His) rs576662562 0.00007
NM_001242896.3(DEPDC5):c.2576C>T (p.Thr859Met) rs200744555 0.00007
NM_001264.5(CDSN):c.239G>A (p.Ser80Asn) rs746319078 0.00007
NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile) rs559712998 0.00007
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys) rs201150987 0.00007
NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His) rs374896394 0.00007
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg) rs867503066 0.00007
NM_001386298.1(CIC):c.2182C>T (p.Pro728Ser) rs970794792 0.00007
NM_002224.4(ITPR3):c.4218C>G (p.Ile1406Met) rs200180514 0.00007
NM_002225.5(IVD):c.550+1G>A rs377147994 0.00007
NM_002303.6(LEPR):c.495-2927T>G rs1032755909 0.00007
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala) rs759520932 0.00007
NM_002508.3(NID1):c.614C>T (p.Thr205Met) rs754456881 0.00007
NM_004204.5(PIGQ):c.65G>A (p.Arg22Gln) rs372361502 0.00007
NM_004415.4(DSP):c.916G>A (p.Ala306Thr) rs368193211 0.00007
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu) rs762770081 0.00007
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00007
NM_005535.3(IL12RB1):c.284C>T (p.Thr95Ile) rs778062013 0.00007
NM_005611.4(RBL2):c.1948C>T (p.Arg650Cys) rs553666067 0.00007
NM_006060.6(IKZF1):c.1076C>T (p.Pro359Leu) rs752909152 0.00007
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00007
NM_006618.5(KDM5B):c.854A>G (p.Lys285Arg) rs971208277 0.00007
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988 0.00007
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795 0.00007
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys) rs369421455 0.00007
NM_014712.3(SETD1A):c.3680G>A (p.Arg1227Gln) rs368496044 0.00007
NM_014862.4(ARNT2):c.1414G>A (p.Gly472Ser) rs138241250 0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_015559.3(SETBP1):c.487-1G>A rs147805077 0.00007
NM_016604.4(KDM3B):c.950G>T (p.Gly317Val) rs868682027 0.00007
NM_017721.5(CC2D1A):c.460G>A (p.Ala154Thr) rs202025962 0.00007
NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala) rs542967760 0.00007
NM_019842.4(KCNQ5):c.2726G>A (p.Arg909Gln) rs184951305 0.00007
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe) rs547583131 0.00007
NM_024704.5(KIF16B):c.2564A>G (p.Gln855Arg) rs201539410 0.00007
NM_024704.5(KIF16B):c.3550A>G (p.Ile1184Val) rs140491944 0.00007
NM_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu) rs200503628 0.00007
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser) rs746247739 0.00007
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser) rs369075832 0.00007
NM_194449.4(PHLPP1):c.2627C>T (p.Ala876Val) rs541150099 0.00007
NM_198428.3(BBS9):c.443-37371A>G rs978516871 0.00007
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly) rs369437262 0.00006
NM_000271.5(NPC1):c.2359A>G (p.Ile787Val) rs202046984 0.00006
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292 0.00006
NM_000352.6(ABCC8):c.647G>A (p.Arg216His) rs199702708 0.00006
NM_000827.4(GRIA1):c.1079G>A (p.Arg360His) rs143445023 0.00006
NM_000875.5(IGF1R):c.2258G>A (p.Arg753Gln) rs987303175 0.00006
NM_001018115.3(FANCD2):c.2345T>C (p.Met782Thr) rs760428640 0.00006
NM_001127208.3(TET2):c.5305G>C (p.Ala1769Pro) rs539389221 0.00006
NM_001252102.2(KIF21B):c.2224G>A (p.Glu742Lys) rs750865418 0.00006
NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp) rs377423256 0.00006
NM_001267550.2(TTN):c.83978C>A (p.Thr27993Asn) rs377614000 0.00006
NM_001273.5(CHD4):c.4544G>A (p.Arg1515His) rs963028335 0.00006
NM_001277115.2(DNAH11):c.10631A>G (p.Glu3544Gly) rs928335497 0.00006
NM_001287491.2(TET3):c.1502C>T (p.Pro501Leu) rs370058010 0.00006
NM_001346754.2(PIGW):c.646C>T (p.Arg216Ter) rs147622852 0.00006
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter) rs369755459 0.00006
NM_001367561.1(DOCK7):c.2035C>T (p.Arg679Trp) rs759877282 0.00006
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala) rs189851617 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001735.3(C5):c.4654G>A (p.Ala1552Thr) rs147051026 0.00006
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) rs752396911 0.00006
NM_003459.5(SLC30A3):c.1154C>G (p.Pro385Arg) rs779570928 0.00006
NM_004519.4(KCNQ3):c.214G>A (p.Gly72Ser) rs759310149 0.00006
NM_005068.3(SIM1):c.1147A>G (p.Arg383Gly) rs188821440 0.00006
NM_005121.3(MED13):c.2291G>A (p.Arg764His) rs777627564 0.00006
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser) rs760256649 0.00006
NM_006005.3(WFS1):c.449C>T (p.Ala150Val) rs113651985 0.00006
NM_006015.6(ARID1A):c.5731A>G (p.Met1911Val) rs755338885 0.00006
NM_006420.3(ARFGEF2):c.2378C>T (p.Thr793Met) rs532986318 0.00006
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys) rs146209687 0.00006
NM_007327.4(GRIN1):c.467G>A (p.Arg156His) rs762490192 0.00006
NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu) rs776119333 0.00006
NM_014363.6(SACS):c.110G>A (p.Arg37His) rs866539724 0.00006
NM_014738.6(TMEM94):c.2386C>T (p.Arg796Cys) rs375448719 0.00006
NM_015080.4(NRXN2):c.4249A>G (p.Thr1417Ala) rs567627566 0.00006
NM_015213.4(DENND5A):c.2840A>G (p.Asn947Ser) rs779865474 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_015959.4(TMX2):c.79C>T (p.Leu27Phe) rs375172173 0.00006
NM_016034.5(MRPS2):c.569C>T (p.Pro190Leu) rs142193869 0.00006
NM_016327.3(UPB1):c.732G>A (p.Met244Ile) rs150690829 0.00006
NM_018451.5(CPAP):c.1696C>T (p.Arg566Ter) rs138228629 0.00006
NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu) rs372947608 0.00006
NM_020151.4(STARD7):c.418C>T (p.Arg140Cys) rs181733184 0.00006
NM_020987.5(ANK3):c.3970G>A (p.Val1324Ile) rs755265993 0.00006
NM_020987.5(ANK3):c.5183C>T (p.Ser1728Phe) rs759998919 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_021942.6(TRAPPC11):c.1530G>T (p.Lys510Asn) rs139154209 0.00006
NM_021969.3(NR0B2):c.211A>G (p.Arg71Gly) rs375223621 0.00006
NM_022114.4(PRDM16):c.3352G>A (p.Val1118Met) rs542279737 0.00006
NM_024072.4(DDX54):c.1381C>G (p.Leu461Val) rs754799242 0.00006
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) rs755782127 0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln) rs535531689 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_031407.7(HUWE1):c.2905G>A (p.Ala969Thr) rs138433243 0.00006
NM_031885.5(BBS2):c.1543G>A (p.Gly515Ser) rs181107019 0.00006
NM_032242.4(PLXNA1):c.1790A>G (p.Asn597Ser) rs145298497 0.00006
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr) rs769886837 0.00006
NM_144666.3(DNHD1):c.12485A>T (p.His4162Leu) rs372799484 0.00006
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn) rs567175904 0.00006
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr) rs145489987 0.00006
NM_152743.4(BRAT1):c.346G>A (p.Val116Ile) rs750543404 0.00006
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln) rs202073574 0.00006
NM_177972.3(TUB):c.451G>A (p.Val151Met) rs767402711 0.00006
NM_181552.4(CUX1):c.3685G>A (p.Gly1229Ser) rs376880850 0.00006
NM_198076.6(COX20):c.197T>G (p.Phe66Cys) rs147700538 0.00006
NM_199242.3(UNC13D):c.1532A>C (p.Lys511Thr) rs771633331 0.00006
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp) rs145903120 0.00006
NM_000052.7(ATP7A):c.314G>A (p.Ser105Asn) rs782475540 0.00005
NM_000229.2(LCAT):c.382G>A (p.Gly128Ser) rs199560940 0.00005
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp) rs140686447 0.00005
NM_000236.3(LIPC):c.674G>A (p.Arg225Gln) rs575306493 0.00005
NM_000285.4(PEPD):c.1324C>T (p.Arg442Cys) rs537755422 0.00005
NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp) rs3918389 0.00005
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys) rs59852838 0.00005
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln) rs376080397 0.00005
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr) rs570782024 0.00005
NM_000384.3(APOB):c.12731C>G (p.Ser4244Cys) rs1052000878 0.00005
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser) rs183398286 0.00005
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu) rs201926213 0.00005
NM_000384.3(APOB):c.9448T>C (p.Phe3150Leu) rs185224477 0.00005
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg) rs372956200 0.00005
NM_000489.6(ATRX):c.7201-4A>G rs782317502 0.00005
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala) rs879255079 0.00005
NM_000660.7(TGFB1):c.399G>A (p.Met133Ile) rs201567874 0.00005
NM_000718.4(CACNA1B):c.3421C>T (p.Arg1141Cys) rs780732725 0.00005
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) rs369483452 0.00005
NM_001005388.3(NFASC):c.2734G>A (p.Val912Ile) rs199913513 0.00005
NM_001035.3(RYR2):c.8437-1390C>T rs1402357546 0.00005
NM_001036.6(RYR3):c.13717G>C (p.Glu4573Gln) rs763523192 0.00005
NM_001036.6(RYR3):c.5042A>G (p.Lys1681Arg) rs200288877 0.00005
NM_001042413.2(GLIS3):c.2494A>G (p.Lys832Glu) rs779354091 0.00005
NM_001077242.2(DEPDC7):c.763A>T (p.Lys255Ter) rs201199439 0.00005
NM_001080517.3(SETD5):c.3319G>A (p.Val1107Ile) rs764498622 0.00005
NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile) rs782776511 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001134407.3(GRIN2A):c.1008-22395A>T rs909654359 0.00005
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met) rs376264061 0.00005
NM_001194.4(HCN2):c.1418G>A (p.Arg473Gln) rs750959680 0.00005
NM_001194.4(HCN2):c.2149C>T (p.Pro717Ser) rs768980195 0.00005
NM_001247997.2(CLIP1):c.1381A>G (p.Ile461Val) rs746134099 0.00005
NM_001257180.2(SLC20A2):c.1897G>T (p.Ala633Ser) rs147025172 0.00005
NM_001267550.2(TTN):c.15148G>T (p.Gly5050Trp) rs908686601 0.00005
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln) rs794729458 0.00005
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.74597C>G (p.Thr24866Arg) rs940915212 0.00005
NM_001318852.2(MAPK8IP3):c.1427G>A (p.Arg476His) rs758533722 0.00005
NM_001330195.2(NRXN3):c.1247G>A (p.Arg416His) rs780387298 0.00005
NM_001346249.2(RALGAPA1):c.3227A>T (p.Asp1076Val) rs533902723 0.00005
NM_001346249.2(RALGAPA1):c.727C>A (p.His243Asn) rs768889806 0.00005
NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln) rs149633993 0.00005
NM_001367479.1(DNAH14):c.12638G>A (p.Trp4213Ter) rs761295153 0.00005
NM_001367561.1(DOCK7):c.692G>A (p.Arg231His) rs757667036 0.00005
NM_001369.3(DNAH5):c.2260-2552G>T rs1047408706 0.00005
NM_001378418.1(TCF20):c.3943G>A (p.Asp1315Asn) rs929676419 0.00005
NM_001397.3(ECE1):c.877G>A (p.Gly293Ser) rs145311594 0.00005
NM_002303.6(LEPR):c.346A>C (p.Asn116His) rs758311989 0.00005
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp) rs78347903 0.00005
NM_003041.4(SLC5A2):c.655+5G>A rs758318545 0.00005
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser) rs544407449 0.00005
NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu) rs1054025123 0.00005
NM_003482.4(KMT2D):c.2798-7C>T rs1161537279 0.00005
NM_003922.4(HERC1):c.-26-25134A>G rs964673768 0.00005
NM_004006.3(DMD):c.8426G>A (p.Arg2809His) rs778331600 0.00005
NM_004341.5(CAD):c.2684G>T (p.Gly895Val) rs759180447 0.00005
NM_004523.4(KIF11):c.2018A>T (p.Lys673Met) rs1235363221 0.00005
NM_004525.3(LRP2):c.5826+212A>G rs890820382 0.00005
NM_004714.3(DYRK1B):c.1748C>T (p.Ala583Val) rs770275514 0.00005
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr) rs757915171 0.00005
NM_005076.5(CNTN2):c.2196+5G>A rs747164379 0.00005
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn) rs145675377 0.00005
NM_005456.4(MAPK8IP1):c.1666+5T>C rs549930864 0.00005
NM_005529.7(HSPG2):c.5174G>A (p.Arg1725Gln) rs377462320 0.00005
NM_005554.4(KRT6A):c.1650G>T (p.Lys550Asn) rs577005792 0.00005
NM_006005.3(WFS1):c.631+4C>T rs377209257 0.00005
NM_006059.4(LAMC3):c.1757T>C (p.Leu586Pro) rs568225117 0.00005
NM_006610.4(MASP2):c.741+1G>T rs368040764 0.00005
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser) rs775566992 0.00005
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met) rs200031995 0.00005
NM_006922.4(SCN3A):c.560G>A (p.Arg187His) rs183764694 0.00005
NM_007118.4(TRIO):c.8120G>A (p.Arg2707Gln) rs768858988 0.00005
NM_012154.5(AGO2):c.337-7C>T rs368945218 0.00005
NM_013275.6(ANKRD11):c.4259T>C (p.Ile1420Thr) rs142828350 0.00005
NM_014159.7(SETD2):c.3026T>C (p.Met1009Thr) rs114527197 0.00005
NM_014712.3(SETD1A):c.1064C>T (p.Ser355Leu) rs1021203285 0.00005
NM_014712.3(SETD1A):c.4950+3G>A rs369236961 0.00005
NM_014795.4(ZEB2):c.-9C>T rs730881183 0.00005
NM_015047.3(EMC1):c.1632+2T>C rs760060777 0.00005
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile) rs147411312 0.00005
NM_015978.3(TNNI3K):c.2121+7442G>A rs780599948 0.00005
NM_016013.4(NDUFAF1):c.457A>G (p.Lys153Glu) rs571701028 0.00005
NM_017777.4(MKS1):c.1613G>A (p.Arg538His) rs557678962 0.00005
NM_018238.4(AGK):c.655G>A (p.Val219Ile) rs201584377 0.00005
NM_018489.3(ASH1L):c.4871G>A (p.Arg1624Gln) rs931459501 0.00005
NM_019842.4(KCNQ5):c.2354T>C (p.Val785Ala) rs747610703 0.00005
NM_020151.4(STARD7):c.361C>T (p.Pro121Ser) rs200880792 0.00005
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter) rs143821815 0.00005
NM_020822.3(KCNT1):c.32G>A (p.Gly11Glu) rs1003586835 0.00005
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr) rs931243903 0.00005
NM_022168.4(IFIH1):c.2299del (p.Thr767fs) rs759430873 0.00005
NM_022765.4(MICAL1):c.1516G>A (p.Gly506Arg) rs373511531 0.00005
NM_024072.4(DDX54):c.2500C>T (p.Arg834Cys) rs150324746 0.00005
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met) rs371666279 0.00005
NM_024611.6(ICE2):c.943+543C>G rs999661043 0.00005
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln) rs757307889 0.00005
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986 0.00005
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00005
NM_030632.3(ASXL3):c.5309G>A (p.Gly1770Glu) rs776403744 0.00005
NM_030948.6(PHACTR1):c.664+2178C>G rs761790090 0.00005
NM_032415.7(CARD11):c.2449G>A (p.Ala817Thr) rs376539147 0.00005
NM_032656.4(DHX37):c.1706T>A (p.Leu569Gln) rs373991457 0.00005
NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp) rs767801199 0.00005
NM_033629.6(TREX1):c.1A>G (p.Met1Val) rs761165865 0.00005
NM_130797.4(DPP6):c.1565A>G (p.Asn522Ser) rs774538369 0.00005
NM_138576.4(BCL11B):c.1858C>T (p.Arg620Cys) rs200835381 0.00005
NM_138615.3(DHX30):c.2134G>A (p.Asp712Asn) rs572948694 0.00005
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp) rs755412340 0.00005
NM_144666.3(DNHD1):c.8519G>A (p.Arg2840Gln) rs537369418 0.00005
NM_152564.5(VPS13B):c.2473G>A (p.Ala825Thr) rs148788159 0.00005
NM_152618.3(BBS12):c.1198G>A (p.Val400Met) rs771136797 0.00005
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn) rs558813240 0.00005
NM_172071.4(RC3H1):c.2146G>A (p.Glu716Lys) rs138013535 0.00005
NM_177972.3(TUB):c.164G>A (p.Arg55Gln) rs371844684 0.00005
NM_198123.2(CSMD3):c.8282A>T (p.Glu2761Val) rs779538842 0.00005
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val) rs772155104 0.00005
NM_198994.3(TGM6):c.1179G>A (p.Ala393=) rs764278569 0.00005
NM_000026.4(ADSL):c.1355G>A (p.Arg452His) rs775671027 0.00004
NM_000098.3(CPT2):c.98del (p.Gln33fs) rs917744011 0.00004
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 0.00004
NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp) rs769409620 0.00004
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645 0.00004
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000271.5(NPC1):c.1712A>G (p.Tyr571Cys) rs750033860 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000384.3(APOB):c.11303T>C (p.Ile3768Thr) rs376825639 0.00004
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000540.3(RYR1):c.13242C>G (p.Asp4414Glu) rs994374423 0.00004
NM_000748.3(CHRNB2):c.122G>A (p.Arg41His) rs199999862 0.00004
NM_000815.5(GABRD):c.1135C>T (p.Arg379Trp) rs754636335 0.00004
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser) rs199935748 0.00004
NM_000836.4(GRIN2D):c.3961G>C (p.Gly1321Arg) rs1365441040 0.00004
NM_001005388.3(NFASC):c.-91+5855A>G rs1055679797 0.00004
NM_001008537.3(NEXMIF):c.3362G>A (p.Arg1121Gln) rs765054230 0.00004
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe) rs727504508 0.00004
NM_001036.6(RYR3):c.7855A>G (p.Thr2619Ala) rs201310633 0.00004
NM_001042631.3(SDHAF1):c.319G>T (p.Ala107Ser) rs956984428 0.00004
NM_001042681.2(RERE):c.522+3644C>T rs894535960 0.00004
NM_001080.3(ALDH5A1):c.1234C>T (p.Arg412Ter) rs118203983 0.00004
NM_001080.3(ALDH5A1):c.589G>A (p.Val197Met) rs768219929 0.00004
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val) rs186508321 0.00004
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr) rs200889338 0.00004
NM_001100913.3(PACS2):c.1072C>T (p.Arg358Trp) rs1488845742 0.00004
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln) rs745775887 0.00004
NM_001128166.3(PAK3):c.-30G>C rs935906281 0.00004
NM_001134407.3(GRIN2A):c.3961G>C (p.Glu1321Gln) rs370754278 0.00004
NM_001148.6(ANK2):c.8395G>A (p.Asp2799Asn) rs374145576 0.00004
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly) rs140539843 0.00004
NM_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe) rs766759815 0.00004
NM_001161352.2(KCNMA1):c.2122C>T (p.Arg708Trp) rs200299051 0.00004
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu) rs140929996 0.00004
NM_001170535.3(ATAD3A):c.1751C>T (p.Ser584Phe) rs770924627 0.00004
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
NM_001204403.2(ANK3):c.13G>T (p.Ala5Ser) rs777570818 0.00004
NM_001220484.1(HEATR4):c.1768G>A (p.Gly590Ser) rs199865768 0.00004
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val) rs529069517 0.00004
NM_001267550.2(TTN):c.76661C>G (p.Ala25554Gly) rs879087699 0.00004
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00004
NM_001271.4(CHD2):c.5036G>A (p.Arg1679Gln) rs373039868 0.00004
NM_001287491.2(TET3):c.881T>C (p.Val294Ala) rs927433947 0.00004
NM_001330288.2(SMARCC2):c.2716-3del rs778570250 0.00004
NM_001348716.2(KDM6B):c.1588G>A (p.Ala530Thr) rs751046746 0.00004
NM_001349338.3(FOXP1):c.734C>T (p.Thr245Ile) rs766906735 0.00004
NM_001353345.2(SETD1B):c.5009G>A (p.Arg1670Gln) rs867617534 0.00004
NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=) rs568763160 0.00004
NM_001365999.1(SZT2):c.7582C>T (p.Arg2528Cys) rs139028803 0.00004
NM_001367871.1(FBRSL1):c.2810C>T (p.Ala937Val) rs1299339182 0.00004
NM_001368397.1(FRMPD4):c.2161G>A (p.Asp721Asn) rs147167664 0.00004
NM_001371986.1(UNC80):c.1910A>G (p.His637Arg) rs188667729 0.00004
NM_001371986.1(UNC80):c.9179T>C (p.Ile3060Thr) rs1001497433 0.00004
NM_001375834.1(WIPF1):c.841G>C (p.Ala281Pro) rs201094141 0.00004
NM_001382273.1(TNK2):c.949G>A (p.Gly317Arg) rs752703999 0.00004
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys) rs372321643 0.00004
NM_001386140.1(MTTP):c.501+8C>T rs773537875 0.00004
NM_001386298.1(CIC):c.2494G>A (p.Gly832Ser) rs1290889234 0.00004
NM_001393769.1(MED12L):c.2147G>T (p.Cys716Phe) rs772438632 0.00004
NM_001393769.1(MED12L):c.5807G>A (p.Arg1936Gln) rs745754346 0.00004
NM_001394062.1(MACF1):c.744G>T (p.Glu248Asp) rs371386732 0.00004
NM_001555.5(IGSF1):c.1034G>A (p.Gly345Glu) rs1334483462 0.00004
NM_001606.5(ABCA2):c.4148G>A (p.Arg1383His) rs772864842 0.00004
NM_001753.5(CAV1):c.257A>G (p.Lys86Arg) rs200811330 0.00004
NM_001846.4(COL4A2):c.1676G>A (p.Arg559Gln) rs199574157 0.00004
NM_001846.4(COL4A2):c.2044A>G (p.Ile682Val) rs761867026 0.00004
NM_001846.4(COL4A2):c.2477C>G (p.Pro826Arg) rs1020176452 0.00004
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091 0.00004
NM_002508.3(NID1):c.1663C>T (p.Arg555Cys) rs751460426 0.00004
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met) rs111344269 0.00004
NM_003041.4(SLC5A2):c.1792+2T>C rs148186423 0.00004
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr) rs767232021 0.00004
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser) rs1324674144 0.00004
NM_004172.5(SLC1A3):c.329C>T (p.Ala110Val) rs745820508 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004977.3(KCNC3):c.751G>A (p.Gly251Ser) rs953647148 0.00004
NM_005045.4(RELN):c.2466A>C (p.Arg822Ser) rs779002595 0.00004
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys) rs782155408 0.00004
NM_005502.4(ABCA1):c.3462+510A>G rs568112600 0.00004
NM_005618.4(DLL1):c.2075C>T (p.Pro692Leu) rs773530345 0.00004
NM_005862.3(STAG1):c.1189G>C (p.Val397Leu) rs201846240 0.00004
NM_005862.3(STAG1):c.3104T>C (p.Met1035Thr) rs199902670 0.00004
NM_005909.5(MAP1B):c.4195C>T (p.Arg1399Cys) rs776226079 0.00004
NM_006180.6(NTRK2):c.25G>A (p.Gly9Arg) rs1373336521 0.00004
NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly) rs778737366 0.00004
NM_007118.4(TRIO):c.7001G>C (p.Ser2334Thr) rs375274497 0.00004
NM_012309.5(SHANK2):c.790G>A (p.Gly264Ser) rs374476702 0.00004
NM_012310.5(KIF4A):c.1072-8T>G rs181578540 0.00004
NM_012388.4(BLOC1S6):c.47C>T (p.Pro16Leu) rs1042113102 0.00004
NM_013275.6(ANKRD11):c.2056G>C (p.Val686Leu) rs759702780 0.00004
NM_014023.4(WDR37):c.250G>A (p.Asp84Asn) rs1255576929 0.00004
NM_014159.7(SETD2):c.4376G>A (p.Arg1459Gln) rs777992018 0.00004
NM_014324.6(AMACR):c.*760C>T rs991052989 0.00004
NM_014334.4(FRRS1L):c.190G>C (p.Gly64Arg) rs936685159 0.00004
NM_014339.7(IL17RA):c.2000C>G (p.Thr667Ser) rs748566718 0.00004
NM_014712.3(SETD1A):c.1345C>G (p.Pro449Ala) rs1021150813 0.00004
NM_014712.3(SETD1A):c.3613C>T (p.Arg1205Trp) rs775350343 0.00004
NM_014920.5(CILK1):c.1434G>A (p.Thr478=) rs563467548 0.00004
NM_014991.6(WDFY3):c.2347C>T (p.Arg783Cys) rs775542349 0.00004
NM_015213.4(DENND5A):c.2050A>G (p.Ser684Gly) rs1377065655 0.00004
NM_015335.5(MED13L):c.1127T>G (p.Met376Arg) rs1210016465 0.00004
NM_015488.5(PNKD):c.16G>A (p.Ala6Thr) rs1023163176 0.00004
NM_017849.4(TMEM127):c.245-1G>C rs121908821 0.00004
NM_018012.4(KIF26B):c.2110C>T (p.Arg704Cys) rs754222042 0.00004
NM_018489.3(ASH1L):c.4304A>G (p.Asn1435Ser) rs367688627 0.00004
NM_018557.3(LRP1B):c.9556C>T (p.Arg3186Cys) rs567834250 0.00004
NM_018941.4(CLN8):c.108G>C (p.Leu36Phe) rs746677418 0.00004
NM_019842.4(KCNQ5):c.1312C>G (p.Arg438Gly) rs750114221 0.00004
NM_020361.5(CPA6):c.1121C>T (p.Thr374Met) rs769320961 0.00004
NM_020708.5(SLC12A5):c.1099G>A (p.Val367Met) rs778801242 0.00004
NM_020738.4(KIDINS220):c.560A>G (p.Lys187Arg) rs368553342 0.00004
NM_020822.3(KCNT1):c.1156C>T (p.Leu386Phe) rs780875110 0.00004
NM_020822.3(KCNT1):c.3152C>T (p.Ser1051Leu) rs375749415 0.00004
NM_021098.3(CACNA1H):c.721T>G (p.Phe241Val) rs56900494 0.00004
NM_021224.6(ZNF462):c.4087C>T (p.Pro1363Ser) rs374016854 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_022114.4(PRDM16):c.3097G>A (p.Glu1033Lys) rs554867627 0.00004
NM_022436.3(ABCG5):c.1250A>G (p.Gln417Arg) rs1044958111 0.00004
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile) rs143402711 0.00004
NM_022455.5(NSD1):c.3311A>G (p.His1104Arg) rs758125212 0.00004
NM_022455.5(NSD1):c.4307A>G (p.Tyr1436Cys) rs574641900 0.00004
NM_022773.4(LMF1):c.602C>T (p.Pro201Leu) rs565159724 0.00004
NM_024570.4(RNASEH2B):c.830G>A (p.Ser277Asn) rs200802557 0.00004
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn) rs753142542 0.00004
NM_024662.3(NAT10):c.394A>G (p.Asn132Asp) rs1014412725 0.00004
NM_025114.4(CEP290):c.3251G>A (p.Arg1084Gln) rs769274354 0.00004
NM_025114.4(CEP290):c.814G>A (p.Asp272Asn) rs866480852 0.00004
NM_031443.4(CCM2):c.883G>A (p.Ala295Thr) rs762020337 0.00004
NM_032242.4(PLXNA1):c.1115G>A (p.Arg372His) rs1336240753 0.00004
NM_032444.4(SLX4):c.5177C>T (p.Ala1726Val) rs752633436 0.00004
NM_033453.4(ITPA):c.513G>C (p.Glu171Asp) rs748840853 0.00004
NM_052891.3(PGLYRP3):c.258-173T>C rs529292918 0.00004
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly) rs201290965 0.00004
NM_133433.4(NIPBL):c.1847G>A (p.Ser616Asn) rs371073215 0.00004
NM_138615.3(DHX30):c.618C>A (p.Asp206Glu) rs373512059 0.00004
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys) rs376537695 0.00004
NM_152564.5(VPS13B):c.1825T>C (p.Tyr609His) rs138171489 0.00004
NM_152564.5(VPS13B):c.5617G>A (p.Glu1873Lys) rs774677234 0.00004
NM_152618.3(BBS12):c.1289A>G (p.Lys430Arg) rs201158536 0.00004
NM_170665.4(ATP2A2):c.2056A>G (p.Ile686Val) rs147575100 0.00004
NM_170784.3(MKKS):c.14A>C (p.Glu5Ala) rs562893409 0.00004
NM_173354.5(SIK1):c.1571C>T (p.Pro524Leu) rs765573579 0.00004
NM_177972.3(TUB):c.1498G>A (p.Asp500Asn) rs368907491 0.00004
NM_182476.3(COQ6):c.349C>T (p.Arg117Ter) rs376848848 0.00004
NM_194454.3(KRIT1):c.1436A>C (p.Lys479Thr) rs576080477 0.00004
NM_000083.3(CLCN1):c.854G>A (p.Gly285Glu) rs150885084 0.00003
NM_000098.3(CPT2):c.886C>T (p.Arg296Ter) rs727503887 0.00003
NM_000141.5(FGFR2):c.1382C>T (p.Ala461Val) rs376451171 0.00003
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val) rs139300551 0.00003
NM_000171.4(GLRA1):c.1295T>C (p.Met432Thr) rs1284734503 0.00003
NM_000188.3(HK1):c.1010G>A (p.Ser337Asn) rs1351313925 0.00003
NM_000236.3(LIPC):c.1024G>A (p.Val342Ile) rs145811475 0.00003
NM_000237.3(LPL):c.386A>C (p.Lys129Thr) rs140903633 0.00003
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys) rs752373431 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln) rs774971794 0.00003
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr) rs373410109 0.00003
NM_000335.5(SCN5A):c.5968C>T (p.Arg1990Trp) rs371308670 0.00003
NM_000337.6(SGCD):c.193-63405A>G rs772757035 0.00003
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln) rs752548592 0.00003
NM_000352.6(ABCC8):c.1468-52G>A rs546856458 0.00003
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr) rs761748692 0.00003
NM_000381.4(MID1):c.340G>A (p.Ala114Thr) rs749995175 0.00003
NM_000384.3(APOB):c.10238del (p.Thr3413fs) rs756209187 0.00003
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu) rs776008744 0.00003
NM_000439.5(PCSK1):c.1430+7A>G rs750206339 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000682.7(ADRA2B):c.622del (p.Arg208fs) rs754181920 0.00003
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser) rs773015884 0.00003
NM_000719.7(CACNA1C):c.4141-605G>A rs1054703481 0.00003
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser) rs770305730 0.00003
NM_000747.3(CHRNB1):c.1365+5G>C rs1051316024 0.00003
NM_000836.4(GRIN2D):c.3253G>A (p.Ala1085Thr) rs1971327716 0.00003
NM_001001344.3(ATP2B3):c.2105G>A (p.Arg702His) rs782587313 0.00003
NM_001036.6(RYR3):c.10796A>G (p.Asp3599Gly) rs368923826 0.00003
NM_001036.6(RYR3):c.14585G>A (p.Arg4862His) rs765872802 0.00003
NM_001039111.3(TRIM71):c.199C>A (p.Arg67Ser) rs1270384396 0.00003
NM_001042681.2(RERE):c.1712G>A (p.Ser571Asn) rs1048848500 0.00003
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser) rs569527072 0.00003
NM_001100913.3(PACS2):c.2647G>A (p.Ala883Thr) rs367840030 0.00003
NM_001110556.2(FLNA):c.7834C>T (p.Arg2612Trp) rs781864075 0.00003
NM_001110792.2(MECP2):c.1138C>T (p.His380Tyr) rs781968415 0.00003
NM_001113491.2(SEPTIN9):c.1219C>T (p.Arg407Cys) rs1294350608 0.00003
NM_001122752.2(SERPINI1):c.439G>A (p.Val147Met) rs772999261 0.00003
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr) rs1406066197 0.00003
NM_001127392.3(MYRF):c.2674A>G (p.Thr892Ala) rs1192195663 0.00003
NM_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu) rs751571034 0.00003
NM_001145809.2(MYH14):c.4088G>A (p.Arg1363His) rs727504915 0.00003
NM_001148.6(ANK2):c.8417T>C (p.Val2806Ala) rs769091762 0.00003
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270 0.00003
NM_001163809.2(WDR81):c.2494G>A (p.Glu832Lys) rs928788426 0.00003
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg) rs777466386 0.00003
NM_001170535.3(ATAD3A):c.932C>G (p.Pro311Arg) rs767934619 0.00003
NM_001170629.2(CHD8):c.4343G>A (p.Arg1448Gln) rs915195873 0.00003
NM_001184880.2(PCDH19):c.539C>G (p.Thr180Arg) rs796052803 0.00003
NM_001190737.2(NFIB):c.1217A>G (p.Tyr406Cys) rs750060639 0.00003
NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln) rs140529566 0.00003
NM_001220.5(CAMK2B):c.1825G>A (p.Val609Ile) rs754627779 0.00003
NM_001244008.2(KIF1A):c.2812C>T (p.Arg938Trp) rs375371570 0.00003
NM_001256071.3(RNF213):c.10063G>A (p.Glu3355Lys) rs753076389 0.00003
NM_001267550.2(TTN):c.101479C>T (p.Arg33827Cys) rs372067498 0.00003
NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp) rs760089168 0.00003
NM_001267550.2(TTN):c.40723+1G>T rs371770198 0.00003
NM_001267550.2(TTN):c.628A>G (p.Thr210Ala) rs777677253 0.00003
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg) rs370963021 0.00003
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr) rs375657115 0.00003
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys) rs766169253 0.00003
NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln) rs572047686 0.00003
NM_001281740.3(FHOD3):c.1097C>T (p.Ser366Leu) rs747730516 0.00003
NM_001281740.3(FHOD3):c.928G>A (p.Asp310Asn) rs770559364 0.00003
NM_001287491.2(TET3):c.3584C>T (p.Ala1195Val) rs756361815 0.00003
NM_001318852.2(MAPK8IP3):c.1163C>T (p.Ser388Leu) rs1226478589 0.00003
NM_001348768.2(HECW2):c.4642C>T (p.Pro1548Ser) rs145760297 0.00003
NM_001348768.2(HECW2):c.473C>T (p.Thr158Ile) rs535521195 0.00003
NM_001349338.3(FOXP1):c.2020G>A (p.Glu674Lys) rs368167189 0.00003
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter) rs768509996 0.00003
NM_001353345.2(SETD1B):c.3331A>G (p.Ser1111Gly) rs1157590683 0.00003
NM_001365536.1(SCN9A):c.136G>A (p.Ala46Thr) rs779344629 0.00003
NM_001365999.1(SZT2):c.6335C>T (p.Ala2112Val) rs746338306 0.00003
NM_001366145.2(TRPM3):c.4078G>A (p.Gly1360Ser) rs752272878 0.00003
NM_001368397.1(FRMPD4):c.2917G>C (p.Ala973Pro) rs200249861 0.00003
NM_001369268.1(ACAN):c.2539C>G (p.Pro847Ala) rs372267862 0.00003
NM_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr) rs149225004 0.00003
NM_001371928.1(AHDC1):c.4145C>T (p.Pro1382Leu) rs747832311 0.00003
NM_001376571.1(MADD):c.2260C>T (p.Arg754Cys) rs374366101 0.00003
NM_001377275.1(PER3):c.3550-1G>A rs772840416 0.00003
NM_001378328.1(CELSR1):c.929T>C (p.Val310Ala) rs1017161806 0.00003
NM_001378414.1(HDAC4):c.3211G>A (p.Val1071Met) rs766000387 0.00003
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met) rs767779223 0.00003
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met) rs562345472 0.00003
NM_001379403.1(WDR26):c.494C>T (p.Ser165Phe) rs202137376 0.00003
NM_001382567.1(STIM1):c.385+10749C>T rs763147075 0.00003
NM_001386125.1(OBSCN):c.9469C>T (p.Arg3157Trp) rs780813015 0.00003
NM_001386140.1(MTTP):c.1391C>A (p.Ala464Glu) rs756155398 0.00003
NM_001386298.1(CIC):c.7387G>A (p.Ala2463Thr) rs762480443 0.00003
NM_001387690.1(KATNAL2):c.905T>C (p.Leu302Ser) rs540379826 0.00003
NM_001394062.1(MACF1):c.19416G>C (p.Gln6472His) rs752667577 0.00003
NM_001394062.1(MACF1):c.2870A>G (p.Tyr957Cys) rs757560141 0.00003
NM_001457.4(FLNB):c.4288G>A (p.Gly1430Arg) rs779999799 0.00003
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg) rs751019991 0.00003
NM_001792.5(CDH2):c.1100C>T (p.Thr367Met) rs200933425 0.00003
NM_001792.5(CDH2):c.14C>T (p.Ala5Val) rs1284853215 0.00003
NM_001807.6(CEL):c.341-83C>T rs904614219 0.00003
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln) rs779824005 0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001845.6(COL4A1):c.343G>A (p.Gly115Ser) rs753989899 0.00003
NM_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser) rs373806617 0.00003
NM_001846.4(COL4A2):c.914G>T (p.Gly305Val) rs377088851 0.00003
NM_001953.5(TYMP):c.1160-1G>A rs797044455 0.00003
NM_002074.5(GNB1):c.520G>A (p.Gly174Ser) rs779612138 0.00003
NM_002335.4(LRP5):c.2515G>A (p.Val839Ile) rs974320602 0.00003
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg) rs1264567694 0.00003
NM_003070.5(SMARCA2):c.632C>T (p.Thr211Met) rs146164750 0.00003
NM_003070.5(SMARCA2):c.880G>A (p.Ala294Thr) rs1007969036 0.00003
NM_003221.4(TFAP2B):c.1302C>G (p.Asn434Lys) rs78820711 0.00003
NM_003482.4(KMT2D):c.8366+6G>T rs749728191 0.00003
NM_003590.5(CUL3):c.563A>G (p.Gln188Arg) rs991634550 0.00003
NM_003922.4(HERC1):c.9869A>G (p.Gln3290Arg) rs200023211 0.00003
NM_004174.4(SLC9A3):c.340G>A (p.Val114Ile) rs200473589 0.00003
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala) rs755492444 0.00003
NM_004415.4(DSP):c.5899G>A (p.Val1967Met) rs397516949 0.00003
NM_004525.3(LRP2):c.667G>A (p.Gly223Ser) rs528193479 0.00003
NM_004553.6(NDUFS6):c.2T>G (p.Met1Arg) rs776323741 0.00003
NM_004714.3(DYRK1B):c.1640G>A (p.Arg547Gln) rs375200082 0.00003
NM_004830.4(MED23):c.695A>G (p.Asn232Ser) rs376144764 0.00003
NM_004973.4(JARID2):c.2528C>T (p.Pro843Leu) rs367950791 0.00003
NM_004973.4(JARID2):c.3581A>G (p.Asn1194Ser) rs758694722 0.00003
NM_004975.4(KCNB1):c.19A>G (p.Lys7Glu) rs936778119 0.00003
NM_004975.4(KCNB1):c.2442T>G (p.Ile814Met) rs565025643 0.00003
NM_005121.3(MED13):c.749C>T (p.Ser250Phe) rs761981290 0.00003
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys) rs765008414 0.00003
NM_005502.4(ABCA1):c.2995C>T (p.Arg999Cys) rs138735406 0.00003
NM_005618.4(DLL1):c.1343C>T (p.Ala448Val) rs368066905 0.00003
NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg) rs370528448 0.00003
NM_005763.4(AASS):c.1393C>G (p.Leu465Val) rs1011506361 0.00003
NM_005909.5(MAP1B):c.2657A>G (p.Lys886Arg) rs189809613 0.00003
NM_005909.5(MAP1B):c.5011A>G (p.Thr1671Ala) rs780751457 0.00003
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro) rs369656458 0.00003
NM_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr) rs199776442 0.00003
NM_006035.4(CDC42BPB):c.131C>T (p.Ser44Leu) rs1384767070 0.00003
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg) rs759298418 0.00003
NM_006545.5(NPRL2):c.694G>A (p.Val232Ile) rs767088341 0.00003
NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln) rs375163006 0.00003
NM_006663.4(PPP1R13L):c.2448+726C>T rs918977048 0.00003
NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys) rs151000791 0.00003
NM_006914.4(RORB):c.481G>A (p.Gly161Ser) rs763192623 0.00003
NM_006914.4(RORB):c.94-1144G>T rs903619100 0.00003
NM_007118.4(TRIO):c.8027A>G (p.Asn2676Ser) rs150431198 0.00003
NM_007129.5(ZIC2):c.1361C>T (p.Ser454Phe) rs969318004 0.00003
NM_007215.4(POLG2):c.775C>T (p.Arg259Ter) rs782006396 0.00003
NM_007254.4(PNKP):c.1308G>C (p.Gln436His) rs780067167 0.00003
NM_012330.4(KAT6B):c.3994C>T (p.Pro1332Ser) rs764565963 0.00003
NM_012448.4(STAT5B):c.-11+7921A>G rs993237482 0.00003
NM_014000.3(VCL):c.2006G>A (p.Arg669Gln) rs759771302 0.00003
NM_014141.6(CNTNAP2):c.102A>C (p.Lys34Asn) rs779436784 0.00003
NM_014159.7(SETD2):c.1833G>T (p.Lys611Asn) rs575862721 0.00003
NM_014159.7(SETD2):c.5365G>A (p.Gly1789Ser) rs759310174 0.00003
NM_014159.7(SETD2):c.6044G>A (p.Ser2015Asn) rs1366338930 0.00003
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu) rs775780402 0.00003
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr) rs779261547 0.00003
NM_014494.4(TNRC6A):c.3838-10G>T rs760665329 0.00003
NM_014991.6(WDFY3):c.5404C>T (p.Arg1802Trp) rs138292353 0.00003
NM_015021.3(ZNF292):c.4046G>A (p.Arg1349Gln) rs572597069 0.00003
NM_015087.5(SPART):c.1369C>T (p.Arg457Ter) rs200373703 0.00003
NM_015178.3(RHOBTB2):c.1039G>A (p.Val347Met) rs762216794 0.00003
NM_015215.4(CAMTA1):c.439-60758C>T rs997317904 0.00003
NM_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn) rs761596589 0.00003
NM_015559.3(SETBP1):c.584C>T (p.Thr195Met) rs755852977 0.00003
NM_016148.5(SHANK1):c.1118A>G (p.Lys373Arg) rs549254946 0.00003
NM_016373.4(WWOX):c.1039C>A (p.Pro347Thr) rs200699154 0.00003
NM_016562.4(TLR7):c.2716G>A (p.Glu906Lys) rs202022420 0.00003
NM_016604.4(KDM3B):c.3415G>A (p.Val1139Ile) rs748316978 0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_017649.5(CNNM2):c.2059G>A (p.Val687Ile) rs779494027 0.00003
NM_017777.4(MKS1):c.322C>T (p.Arg108Cys) rs201476674 0.00003
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) rs760985201 0.00003
NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr) rs578033982 0.00003
NM_018489.3(ASH1L):c.1570C>T (p.Pro524Ser) rs143322824 0.00003
NM_019109.5(ALG1):c.826C>T (p.Arg276Trp) rs151173406 0.00003
NM_020338.4(ZMIZ1):c.2449G>A (p.Asp817Asn) rs572323939 0.00003
NM_020338.4(ZMIZ1):c.577A>G (p.Met193Val) rs1280033992 0.00003
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu) rs183899632 0.00003
NM_020361.5(CPA6):c.127A>G (p.Ile43Val) rs766547893 0.00003
NM_020708.5(SLC12A5):c.2455G>A (p.Glu819Lys) rs751841577 0.00003
NM_020765.3(UBR4):c.1922G>A (p.Arg641His) rs370057018 0.00003
NM_020791.4(TAOK1):c.2851A>G (p.Met951Val) rs780626019 0.00003
NM_020822.3(KCNT1):c.2050A>C (p.Thr684Pro) rs756570347 0.00003
NM_020822.3(KCNT1):c.2201A>G (p.Asp734Gly) rs1360863995 0.00003
NM_020964.3(EPG5):c.3014C>T (p.Thr1005Met) rs890699630 0.00003
NM_020988.3(GNAO1):c.723+7070C>T rs756529307 0.00003
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly) rs989268235 0.00003
NM_021098.3(CACNA1H):c.2003-6C>T rs1435574238 0.00003
NM_021098.3(CACNA1H):c.6197G>C (p.Ser2066Thr) rs369917102 0.00003
NM_021098.3(CACNA1H):c.6262G>A (p.Gly2088Arg) rs779925007 0.00003
NM_021120.4(DLG3):c.2243T>C (p.Ile748Thr) rs1234828740 0.00003
NM_021969.3(NR0B2):c.637C>T (p.Arg213Cys) rs199976415 0.00003
NM_021975.4(RELA):c.596T>C (p.Val199Ala) rs145138143 0.00003
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) rs397514744 0.00003
NM_022436.3(ABCG5):c.1210G>A (p.Val404Ile) rs200396635 0.00003
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln) rs536081800 0.00003
NM_022773.4(LMF1):c.1392G>T (p.Trp464Cys) rs1380800485 0.00003
NM_024740.2(ALG9):c.1502T>A (p.Phe501Tyr) rs541537158 0.00003
NM_024757.5(EHMT1):c.3532G>A (p.Asp1178Asn) rs371824384 0.00003
NM_025233.7(COASY):c.-5G>A rs1224479994 0.00003
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys) rs760322583 0.00003
NM_030632.3(ASXL3):c.4054A>G (p.Asn1352Asp) rs765815936 0.00003
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln) rs372896387 0.00003
NM_030665.4(RAI1):c.817C>T (p.Arg273Cys) rs758637644 0.00003
NM_031407.7(HUWE1):c.11710C>T (p.Arg3904Cys) rs782376870 0.00003
NM_031885.5(BBS2):c.311A>C (p.Asp104Ala) rs121908179 0.00003
NM_032578.4(MYPN):c.1130+3A>C rs770005365 0.00003
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile) rs149439295 0.00003
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr) rs760437306 0.00003
NM_138775.3(ALKBH8):c.1105C>T (p.Arg369Trp) rs745922825 0.00003
NM_144666.3(DNHD1):c.1201C>A (p.Pro401Thr) rs774117627 0.00003
NM_145030.4(PPP1R35):c.572del (p.Arg191fs) rs781521359 0.00003
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val) rs578203757 0.00003
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe) rs1016035749 0.00003
NM_152722.5(HEPACAM):c.803+1G>A rs375712202 0.00003
NM_152743.4(BRAT1):c.2228C>A (p.Pro743His) rs148661872 0.00003
NM_153485.3(NUP155):c.1348A>G (p.Met450Val) rs374935918 0.00003
NM_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr) rs764078087 0.00003
NM_170606.3(KMT2C):c.6604C>A (p.Pro2202Thr) rs760297553 0.00003
NM_170606.3(KMT2C):c.8369T>C (p.Val2790Ala) rs771525847 0.00003
NM_170784.3(MKKS):c.464G>A (p.Arg155His) rs138111422 0.00003
NM_173560.4(RFX6):c.1709C>T (p.Pro570Leu) rs375617055 0.00003
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg) rs779464983 0.00003
NM_177972.3(TUB):c.1159G>A (p.Val387Met) rs1214536528 0.00003
NM_177972.3(TUB):c.1210C>T (p.Arg404Cys) rs139170512 0.00003
NM_182641.4(BPTF):c.4918A>G (p.Thr1640Ala) rs1309688400 0.00003
NM_199242.3(UNC13D):c.514C>T (p.Arg172Cys) rs560126604 0.00003
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp) rs772226819 0.00002
NM_000081.4(LYST):c.2330A>G (p.Tyr777Cys) rs367688184 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000237.3(LPL):c.1414A>C (p.Lys472Gln) rs1364598167 0.00002
NM_000238.4(KCNH2):c.306T>C (p.Asp102=) rs1005025657 0.00002
NM_000246.4(CIITA):c.871G>A (p.Ala291Thr) rs377598648 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys) rs730880764 0.00002
NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys) rs151310492 0.00002
NM_000276.4(OCRL):c.2066G>A (p.Arg689His) rs748186190 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met) rs765028814 0.00002
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln) rs755707550 0.00002
NM_000352.6(ABCC8):c.2105G>A (p.Arg702His) rs755181061 0.00002
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe) rs773899806 0.00002
NM_000381.4(MID1):c.1279G>A (p.Val427Ile) rs755985917 0.00002
NM_000381.4(MID1):c.1298C>T (p.Ser433Leu) rs780880323 0.00002
NM_000384.3(APOB):c.10114T>G (p.Ser3372Ala) rs138850232 0.00002
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly) rs757383498 0.00002
NM_000384.3(APOB):c.11855G>A (p.Arg3952His) rs886055576 0.00002
NM_000384.3(APOB):c.6034C>T (p.Arg2012Ter) rs147863759 0.00002
NM_000393.5(COL5A2):c.3275G>A (p.Gly1092Asp) rs770974455 0.00002
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) rs369776766 0.00002
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met) rs780394907 0.00002
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser) rs982085453 0.00002
NM_000483.5(APOC2):c.-14+8A>G rs1457837418 0.00002
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu) rs1394070657 0.00002
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn) rs1308342676 0.00002
NM_000503.6(EYA1):c.1523C>T (p.Ala508Val) rs754901033 0.00002
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile) rs751368921 0.00002
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln) rs587778738 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005273.3(CHD3):c.1282G>A (p.Val428Ile) rs141138068 0.00002
NM_001009944.3(PKD1):c.5068G>A (p.Ala1690Thr) rs780133373 0.00002
NM_001009944.3(PKD1):c.5960G>A (p.Gly1987Asp) rs527929848 0.00002
NM_001013839.4(EXOC7):c.1664G>A (p.Arg555His) rs560547486 0.00002
NM_001015877.2(PHF6):c.497G>A (p.Arg166Lys) rs368966223 0.00002
NM_001036.6(RYR3):c.556G>A (p.Val186Ile) rs761547558 0.00002
NM_001036.6(RYR3):c.8164G>A (p.Asp2722Asn) rs376553827 0.00002
NM_001039.4(SCNN1G):c.1400G>A (p.Ser467Asn) rs925384893 0.00002
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr) rs745774658 0.00002
NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe) rs144994430 0.00002
NM_001042424.3(NSD2):c.274G>A (p.Gly92Ser) rs764038848 0.00002
NM_001042603.3(KDM5A):c.3845G>A (p.Arg1282His) rs781474100 0.00002
NM_001042681.2(RERE):c.2764C>G (p.Pro922Ala) rs571471435 0.00002
NM_001046.3(SLC12A2):c.1226T>C (p.Ile409Thr) rs1485381198 0.00002
NM_001077350.3(NPRL3):c.318+3A>T rs746765533 0.00002
NM_001077350.3(NPRL3):c.905C>T (p.Ala302Val) rs777790535 0.00002
NM_001080517.3(SETD5):c.1213C>T (p.His405Tyr) rs758782896 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001122630.2(CDKN1C):c.542C>G (p.Pro181Arg) rs1377428359 0.00002
NM_001123385.2(BCOR):c.1153G>A (p.Ala385Thr) rs1373208021 0.00002
NM_001127222.2(CACNA1A):c.29C>T (p.Ala10Val) rs952757731 0.00002
NM_001128126.3(AP4S1):c.138+2T>G rs377679827 0.00002
NM_001128840.3(CACNA1D):c.6061C>T (p.Arg2021Cys) rs779080006 0.00002
NM_001130021.3(ATP6V0A1):c.1470-6T>C rs375469024 0.00002
NM_001134407.3(GRIN2A):c.91C>T (p.Pro31Ser) rs199942034 0.00002
NM_001136239.4(PRDM6):c.1031C>T (p.Ser344Leu) rs1333586171 0.00002
NM_001148.6(ANK2):c.2384A>C (p.Asn795Thr) rs769106499 0.00002
NM_001148.6(ANK2):c.6895G>C (p.Asp2299His) rs537233629 0.00002
NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly) rs770184277 0.00002
NM_001194998.2(CEP152):c.972+2T>A rs766194658 0.00002
NM_001197104.2(KMT2A):c.9379C>T (p.Pro3127Ser) rs1461830365 0.00002
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys) rs749809456 0.00002
NM_001267550.2(TTN):c.102761T>C (p.Leu34254Pro) rs556155561 0.00002
NM_001267550.2(TTN):c.35470+4T>C rs1389073196 0.00002
NM_001278512.2(AP3B2):c.1379-6C>G rs1030446693 0.00002
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser) rs747105829 0.00002
NM_001287491.2(TET3):c.1874G>A (p.Arg625Gln) rs986661716 0.00002
NM_001303052.2(MYT1L):c.1184T>C (p.Val395Ala) rs1335226719 0.00002
NM_001330288.2(SMARCC2):c.3222del (p.Gly1075fs) rs752788954 0.00002
NM_001330288.2(SMARCC2):c.3592G>A (p.Ala1198Thr) rs772189962 0.00002
NM_001330360.2(POLA1):c.1931A>G (p.Asn644Ser) rs1931360275 0.00002
NM_001332.4(CTNND2):c.2887G>A (p.Val963Ile) rs781743390 0.00002
NM_001348716.2(KDM6B):c.2639G>A (p.Arg880Gln) rs754025087 0.00002
NM_001352027.3(PHF21A):c.1882G>A (p.Gly628Ser) rs376981110 0.00002
NM_001352027.3(PHF21A):c.409G>A (p.Val137Ile) rs780150629 0.00002
NM_001353345.2(SETD1B):c.2033C>A (p.Thr678Asn) rs1385430918 0.00002
NM_001365536.1(SCN9A):c.560C>T (p.Pro187Leu) rs771227297 0.00002
NM_001365536.1(SCN9A):c.856T>A (p.Leu286Ile) rs754977237 0.00002
NM_001367943.1(TCF7L2):c.397G>A (p.Gly133Ser) rs368705098 0.00002
NM_001369.3(DNAH5):c.8236G>T (p.Val2746Leu) rs773643407 0.00002
NM_001369.3(DNAH5):c.8311C>T (p.Arg2771Cys) rs769557047 0.00002
NM_001370466.1(NOD2):c.2298G>A (p.Val766=) rs534738790 0.00002
NM_001374353.1(GLI2):c.1906-4G>A rs373446304 0.00002
NM_001376.5(DYNC1H1):c.4884G>A (p.Arg1628=) rs1273328322 0.00002
NM_001378452.1(ITPR1):c.5746A>G (p.Ile1916Val) rs1479960762 0.00002
NM_001378457.1(DMXL2):c.7312C>T (p.Pro2438Ser) rs142404836 0.00002
NM_001379081.2(FREM1):c.1232C>A (p.Thr411Lys) rs764904063 0.00002
NM_001384125.1(BLTP1):c.2992G>T (p.Asp998Tyr) rs751410260 0.00002
NM_001385012.1(NBEA):c.1615G>T (p.Val539Leu) rs924307212 0.00002
NM_001386298.1(CIC):c.425G>A (p.Arg142Gln) rs1201027582 0.00002
NM_001387690.1(KATNAL2):c.739C>T (p.His247Tyr) rs1569106508 0.00002
NM_001414.4(EIF2B1):c.551G>A (p.Gly184Asp) rs771299612 0.00002
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg) rs1263635747 0.00002
NM_001743.6(CALM2):c.420A>G (p.Glu140=) rs201444040 0.00002
NM_001753.5(CAV1):c.326T>A (p.Ile109Asn) rs1437941134 0.00002
NM_001807.6(CEL):c.895+2dup rs1027973097 0.00002
NM_001940.4(ATN1):c.2066C>T (p.Ser689Leu) rs781916549 0.00002
NM_001940.4(ATN1):c.2611A>G (p.Thr871Ala) rs781891087 0.00002
NM_002184.4(IL6ST):c.2447A>G (p.Lys816Arg) rs765498089 0.00002
NM_002296.4(LBR):c.1590G>A (p.Thr530=) rs766271949 0.00002
NM_002296.4(LBR):c.1757G>A (p.Arg586His) rs573510559 0.00002
NM_002476.2(MYL4):c.194G>A (p.Arg65Gln) rs1050214578 0.00002
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr) rs754458532 0.00002
NM_002547.3(OPHN1):c.1856C>T (p.Pro619Leu) rs1175919760 0.00002
NM_002816.5(PSMD12):c.211G>T (p.Val71Leu) rs1332334979 0.00002
NM_003036.4(SKI):c.1439C>T (p.Ser480Leu) rs367916348 0.00002
NM_003036.4(SKI):c.1817C>T (p.Thr606Met) rs753862105 0.00002
NM_003041.4(SLC5A2):c.1036G>A (p.Val346Met) rs755101109 0.00002
NM_003041.4(SLC5A2):c.1690C>T (p.Arg564Trp) rs138861487 0.00002
NM_003076.5(SMARCD1):c.566C>G (p.Thr189Ser) rs762741274 0.00002
NM_003108.4(SOX11):c.538G>A (p.Ala180Thr) rs1297634063 0.00002
NM_003108.4(SOX11):c.701A>G (p.Glu234Gly) rs751660162 0.00002
NM_003470.3(USP7):c.2785G>A (p.Val929Met) rs368894909 0.00002
NM_003482.4(KMT2D):c.7777C>A (p.Pro2593Thr) rs2120520690 0.00002
NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp) rs750484458 0.00002
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser) rs1291730464 0.00002
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=) rs370689343 0.00002
NM_004519.4(KCNQ3):c.293A>G (p.Lys98Arg) rs143194379 0.00002
NM_004525.3(LRP2):c.80-11381G>A rs1329244987 0.00002
NM_004974.4(KCNA2):c.1375A>G (p.Met459Val) rs371146552 0.00002
NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys) rs768119894 0.00002
NM_005068.3(SIM1):c.1514G>C (p.Ser505Thr) rs774538591 0.00002
NM_005235.3(ERBB4):c.2719+4A>T rs377251473 0.00002
NM_005360.5(MAF):c.743C>A (p.Pro248Gln) rs764041224 0.00002
NM_005477.3(HCN4):c.1385G>A (p.Gly462Glu) rs146714274 0.00002
NM_005591.4(MRE11):c.1226-912C>T rs1264872458 0.00002
NM_005739.4(RASGRP1):c.2163G>T (p.Lys721Asn) rs1188721687 0.00002
NM_005862.3(STAG1):c.395-8T>C rs746224826 0.00002
NM_005909.5(MAP1B):c.5678A>C (p.Glu1893Ala) rs1356833883 0.00002
NM_005912.3(MC4R):c.973C>A (p.Leu325Ile) rs1413495797 0.00002
NM_005957.5(MTHFR):c.1760C>G (p.Ala587Gly) rs761226286 0.00002
NM_006005.3(WFS1):c.176C>T (p.Ala59Val) rs71524365 0.00002
NM_006015.6(ARID1A):c.122C>T (p.Ala41Val) rs1295137307 0.00002
NM_006015.6(ARID1A):c.4388G>A (p.Arg1463His) rs752827461 0.00002
NM_006236.3(POU3F3):c.98G>A (p.Gly33Glu) rs1418751569 0.00002
NM_006494.4(ERF):c.373+8C>T rs368794183 0.00002
NM_006610.4(MASP2):c.890-1G>A rs370918294 0.00002
NM_006662.3(SRCAP):c.7744C>G (p.Pro2582Ala) rs1226947726 0.00002
NM_006734.4(HIVEP2):c.230A>C (p.Gln77Pro) rs1775643278 0.00002
NM_006766.5(KAT6A):c.2843G>A (p.Arg948Gln) rs200762586 0.00002
NM_006772.3(SYNGAP1):c.1118G>T (p.Gly373Val) rs774819723 0.00002
NM_006772.3(SYNGAP1):c.1285C>T (p.Arg429Trp) rs748333558 0.00002
NM_006772.3(SYNGAP1):c.1286G>A (p.Arg429Gln) rs772336493 0.00002
NM_006849.4(PDIA2):c.383G>A (p.Arg128His) rs373590123 0.00002
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala) rs747331538 0.00002
NM_007118.4(TRIO):c.410C>T (p.Ser137Phe) rs961247277 0.00002
NM_007118.4(TRIO):c.6725C>T (p.Thr2242Met) rs55916212 0.00002
NM_007144.3(PCGF2):c.592G>A (p.Glu198Lys) rs568535028 0.00002
NM_007254.4(PNKP):c.673G>A (p.Gly225Arg) rs144257114 0.00002
NM_012210.4(TRIM32):c.1838G>A (p.Arg613Gln) rs199704873 0.00002
NM_012309.5(SHANK2):c.2296C>T (p.Arg766Trp) rs781809082 0.00002
NM_013275.6(ANKRD11):c.2860G>A (p.Ala954Thr) rs745768322 0.00002
NM_013275.6(ANKRD11):c.6043T>C (p.Tyr2015His) rs1395480845 0.00002
NM_013382.7(POMT2):c.1006+5G>A rs587780422 0.00002
NM_014000.3(VCL):c.1814C>G (p.Pro605Arg) rs960761223 0.00002
NM_014314.4(RIGI):c.1232C>T (p.Ser411Leu) rs267602206 0.00002
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu) rs768629864 0.00002
NM_014491.4(FOXP2):c.258+15661C>T rs1339286790 0.00002
NM_014638.4(PLCH2):c.15G>A (p.Trp5Ter) rs946933819 0.00002
NM_014712.3(SETD1A):c.4298C>T (p.Ser1433Leu) rs375585323 0.00002
NM_014845.6(FIG4):c.904G>A (p.Glu302Lys) rs587777714 0.00002
NM_014920.5(CILK1):c.914A>C (p.Lys305Thr) rs765078446 0.00002
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val) rs372900676 0.00002
NM_015001.3(SPEN):c.7453G>A (p.Ala2485Thr) rs368603571 0.00002
NM_015021.3(ZNF292):c.1259A>G (p.Glu420Gly) rs1195660356 0.00002
NM_015080.4(NRXN2):c.3254G>A (p.Arg1085His) rs765542853 0.00002
NM_015103.3(PLXND1):c.5081A>G (p.His1694Arg) rs761108683 0.00002
NM_015202.5(KATNIP):c.2722C>T (p.Arg908Cys) rs746045665 0.00002
NM_015215.4(CAMTA1):c.1618G>A (p.Glu540Lys) rs200732212 0.00002
NM_015215.4(CAMTA1):c.4159G>A (p.Gly1387Ser) rs754039295 0.00002
NM_015335.5(MED13L):c.5986A>G (p.Ile1996Val) rs1272594944 0.00002
NM_015557.3(CHD5):c.3779C>T (p.Ala1260Val) rs759818397 0.00002
NM_015559.3(SETBP1):c.2842C>T (p.Arg948Cys) rs751366974 0.00002
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr) rs770733075 0.00002
NM_015874.6(RBPJ):c.1375G>A (p.Glu459Lys) rs200349793 0.00002
NM_015922.3(NSDHL):c.44G>A (p.Arg15Gln) rs200748828 0.00002
NM_015978.3(TNNI3K):c.2121+7526_2121+7529dup rs1416246083 0.00002
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile) rs778668093 0.00002
NM_017514.5(PLXNA3):c.3628A>T (p.Ile1210Phe) rs782698800 0.00002
NM_017654.4(SAMD9):c.893C>T (p.Thr298Ile) rs200135790 0.00002
NM_017757.3(ZNF407):c.3758C>T (p.Thr1253Met) rs370298369 0.00002
NM_017757.3(ZNF407):c.6730G>A (p.Glu2244Lys) rs975886316 0.00002
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro) rs369380403 0.00002
NM_018071.5(ARHGEF40):c.2767C>T (p.Arg923Trp) rs903600980 0.00002
NM_018341.3(ERMARD):c.632C>T (p.Thr211Met) rs770631548 0.00002
NM_018429.3(BDP1):c.6809-2A>G rs777466033 0.00002
NM_018489.3(ASH1L):c.3264T>G (p.Ile1088Met) rs367721790 0.00002
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_018896.5(CACNA1G):c.6656C>T (p.Thr2219Met) rs1433017716 0.00002
NM_018896.5(CACNA1G):c.6769C>T (p.Arg2257Trp) rs1444290546 0.00002
NM_020297.4(ABCC9):c.200C>T (p.Pro67Leu) rs766600615 0.00002
NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly) rs749141299 0.00002
NM_020717.5(SHROOM4):c.1214C>A (p.Pro405His) rs781938996 0.00002
NM_020765.3(UBR4):c.4387C>T (p.Arg1463Cys) rs770100576 0.00002
NM_020778.5(ALPK3):c.1765G>A (p.Asp589Asn) rs146892833 0.00002
NM_020791.4(TAOK1):c.2018T>C (p.Met673Thr) rs751856245 0.00002
NM_020822.3(KCNT1):c.1838G>A (p.Arg613Gln) rs571757257 0.00002
NM_020822.3(KCNT1):c.3488C>T (p.Pro1163Leu) rs1439404936 0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_021224.6(ZNF462):c.6601G>A (p.Gly2201Ser) rs1240557088 0.00002
NM_022124.6(CDH23):c.8083G>A (p.Asp2695Asn) rs369501114 0.00002
NM_022168.4(IFIH1):c.1357G>C (p.Val453Leu) rs367921237 0.00002
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln) rs751809765 0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_022552.5(DNMT3A):c.1787G>A (p.Arg596Gln) rs899717364 0.00002
NM_022765.4(MICAL1):c.2750C>T (p.Ala917Val) rs770768657 0.00002
NM_022773.4(LMF1):c.1406C>T (p.Ala469Val) rs574656841 0.00002
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln) rs749727938 0.00002
NM_024528.4(NKAP):c.768G>T (p.Lys256Asn) rs372119031 0.00002
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs) rs180177135 0.00002
NM_024704.5(KIF16B):c.2586G>T (p.Glu862Asp) rs760399657 0.00002
NM_024795.4(TM4SF20):c.510G>A (p.Trp170Ter) rs774704649 0.00002
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser) rs764079993 0.00002
NM_025219.3(DNAJC5):c.-11-2A>G rs1370715503 0.00002
NM_030665.4(RAI1):c.3590G>T (p.Gly1197Val) rs368975225 0.00002
NM_030665.4(RAI1):c.458C>T (p.Pro153Leu) rs1468262694 0.00002
NM_031407.7(HUWE1):c.3641C>T (p.Thr1214Met) rs782621365 0.00002
NM_032108.4(SEMA6B):c.2111C>T (p.Ser704Leu) rs918065842 0.00002
NM_032188.3(KAT8):c.55G>C (p.Gly19Arg) rs899031653 0.00002
NM_032776.3(JMJD1C):c.2861A>G (p.His954Arg) rs770143068 0.00002
NM_032808.7(LINGO1):c.1825G>A (p.Ala609Thr) rs367728067 0.00002
NM_052867.4(NALCN):c.3845C>T (p.Ser1282Leu) rs763353781 0.00002
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu) rs1216268952 0.00002
NM_080425.4(GNAS):c.988A>G (p.Ile330Val) rs201597085 0.00002
NM_144508.5(KNL1):c.2987G>A (p.Ser996Asn) rs761289014 0.00002
NM_144596.4(TTC8):c.1042T>C (p.Phe348Leu) rs200086953 0.00002
NM_145207.3(AFG2A):c.1277A>C (p.Lys426Thr) rs780078610 0.00002
NM_152564.5(VPS13B):c.1888G>A (p.Ala630Thr) rs768721417 0.00002
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter) rs140353201 0.00002
NM_152703.5(SAMD9L):c.-779+181T>C rs1792903463 0.00002
NM_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser) rs774643105 0.00002
NM_170606.3(KMT2C):c.10564A>G (p.Ile3522Val) rs571653303 0.00002
NM_170606.3(KMT2C):c.5512C>T (p.Pro1838Ser) rs776192339 0.00002
NM_170606.3(KMT2C):c.6896A>G (p.Tyr2299Cys) rs587778494 0.00002
NM_170606.3(KMT2C):c.8471C>T (p.Thr2824Met) rs780982767 0.00002
NM_170606.3(KMT2C):c.9973A>T (p.Ser3325Cys) rs778808532 0.00002
NM_170707.4(LMNA):c.357-3669G>A rs771758867 0.00002
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys) rs59885338 0.00002
NM_173689.7(CRB2):c.1054+2T>G rs1225230645 0.00002
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser) rs200146448 0.00002
NM_176824.3(BBS7):c.110T>C (p.Ile37Thr) rs1328906523 0.00002
NM_176824.3(BBS7):c.590A>G (p.Asn197Ser) rs770553026 0.00002
NM_182746.3(MCM4):c.1784C>T (p.Thr595Ile) rs375753142 0.00002
NM_198282.4(STING1):c.344C>T (p.Pro115Leu) rs769494344 0.00002
NM_198510.3(ITIH6):c.1682G>A (p.Arg561His) rs370017589 0.00002
NM_198904.4(GABRG2):c.108-3373G>A rs1433555018 0.00002
NC_000011.10:g.47335082_47335083del rs397515990 0.00001
NM_000026.4(ADSL):c.1102-6C>G rs758666194 0.00001
NM_000038.6(APC):c.1213C>T (p.Arg405Ter) rs587779780 0.00001
NM_000043.6(FAS):c.950A>G (p.Asp317Gly) rs200864612 0.00001
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000073.3(CD3G):c.187G>A (p.Gly63Ser) rs755334490 0.00001
NM_000081.4(LYST):c.1637G>A (p.Arg546Gln) rs751609899 0.00001
NM_000088.4(COL1A1):c.336A>T (p.Gly112=) rs749946056 0.00001
NM_000156.6(GAMT):c.437C>G (p.Thr146Arg) rs149821870 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000168.6(GLI3):c.3586G>C (p.Gly1196Arg) rs376413286 0.00001
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn) rs151163582 0.00001
NM_000188.3(HK1):c.1720-3C>T rs1256697528 0.00001
NM_000207.3(INS):c.25C>T (p.Pro9Ser) rs372122432 0.00001
NM_000209.4(PDX1):c.208G>A (p.Val70Met) rs1234749777 0.00001
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu) rs556589392 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000229.2(LCAT):c.1073C>T (p.Thr358Met) rs759917018 0.00001
NM_000235.4(LIPA):c.6A>T (p.Lys2Asn) rs138408240 0.00001
NM_000235.4(LIPA):c.746C>T (p.Thr249Ile) rs373857537 0.00001
NM_000236.3(LIPC):c.353G>A (p.Gly118Glu) rs1893340418 0.00001
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) rs368817970 0.00001
NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu) rs762510312 0.00001
NM_000238.4(KCNH2):c.3373C>G (p.Pro1125Ala) rs1159352279 0.00001
NM_000240.4(MAOA):c.331G>A (p.Ala111Thr) rs755919316 0.00001
NM_000254.3(MTR):c.1812+1G>A rs778242201 0.00001
NM_000257.4(MYH7):c.221A>G (p.Asp74Gly) rs730880831 0.00001
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro) rs1432587285 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000264.5(PTCH1):c.2560+6A>G rs1414242958 0.00001
NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg) rs587778631 0.00001
NM_000271.5(NPC1):c.530G>A (p.Cys177Tyr) rs80358252 0.00001
NM_000277.3(PAH):c.842+3G>C rs62507324 0.00001
NM_000278.5(PAX2):c.757G>A (p.Val253Ile) rs770703982 0.00001
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys) rs1269552788 0.00001
NM_000317.3(PTS):c.186G>A (p.Glu62=) rs189051075 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile) rs775776658 0.00001
NM_000352.6(ABCC8):c.3661C>T (p.Arg1221Trp) rs567382793 0.00001
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser) rs745417115 0.00001
NM_000363.5(TNNI3):c.108+4G>T rs878853954 0.00001
NM_000368.5(TSC1):c.1282G>C (p.Ala428Pro) rs1845728007 0.00001
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val) rs1554816420 0.00001
NM_000384.3(APOB):c.10270T>C (p.Ser3424Pro) rs1425159052 0.00001
NM_000384.3(APOB):c.10807C>T (p.His3603Tyr) rs750646887 0.00001
NM_000384.3(APOB):c.11273T>C (p.Val3758Ala) rs998871696 0.00001
NM_000384.3(APOB):c.218C>A (p.Ala73Asp) rs377171241 0.00001
NM_000384.3(APOB):c.2821A>T (p.Thr941Ser) rs748256431 0.00001
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr) rs149357946 0.00001
NM_000384.3(APOB):c.3692T>C (p.Ile1231Thr) rs1663429897 0.00001
NM_000384.3(APOB):c.4366G>A (p.Asp1456Asn) rs147759262 0.00001
NM_000384.3(APOB):c.5188A>C (p.Lys1730Gln) rs1251305507 0.00001
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp) rs1855560526 0.00001
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) rs773209126 0.00001
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu) rs1777976330 0.00001
NM_000426.4(LAMA2):c.4880G>A (p.Arg1627Gln) rs763053961 0.00001
NM_000426.4(LAMA2):c.716G>A (p.Arg239His) rs776777494 0.00001
NM_000435.3(NOTCH3):c.2809G>C (p.Gly937Arg) rs781408452 0.00001
NM_000435.3(NOTCH3):c.3307A>G (p.Met1103Val) rs370829581 0.00001
NM_000435.3(NOTCH3):c.3536A>G (p.Asn1179Ser) rs778548048 0.00001
NM_000448.3(RAG1):c.206C>G (p.Ala69Gly) rs887750833 0.00001
NM_000448.3(RAG1):c.232C>G (p.Gln78Glu) rs759537311 0.00001
NM_000448.3(RAG1):c.997T>C (p.Tyr333His) rs1041695603 0.00001
NM_000458.4(HNF1B):c.11A>G (p.Lys4Arg) rs768909646 0.00001
NM_000489.6(ATRX):c.1808C>T (p.Ala603Val) rs1557140749 0.00001
NM_000489.6(ATRX):c.3452G>C (p.Ser1151Thr) rs782073135 0.00001
NM_000501.4(ELN):c.1785T>C (p.Tyr595=) rs727503033 0.00001
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr) rs1393796559 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr) rs769370816 0.00001
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys) rs730882078 0.00001
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys) rs748944640 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.817+6C>T rs773672332 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000540.3(RYR1):c.1715A>C (p.Glu572Ala) rs779551357 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000548.5(TSC2):c.3518C>T (p.Thr1173Ile) rs2089969949 0.00001
NM_000548.5(TSC2):c.3955G>A (p.Asp1319Asn) rs375883030 0.00001
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu) rs45517352 0.00001
NM_000631.5(NCF4):c.407C>T (p.Ser136Leu) rs749322339 0.00001
NM_000682.7(ADRA2B):c.1079G>A (p.Arg360Gln) rs757853154 0.00001
NM_000702.4(ATP1A2):c.1931G>A (p.Arg644Gln) rs745824475 0.00001
NM_000702.4(ATP1A2):c.748+3G>A rs767929498 0.00001
NM_000718.4(CACNA1B):c.2593G>A (p.Asp865Asn) rs1958874060 0.00001
NM_000718.4(CACNA1B):c.3013G>A (p.Glu1005Lys) rs1324362568 0.00001
NM_000718.4(CACNA1B):c.3481G>A (p.Ala1161Thr) rs200326973 0.00001
NM_000718.4(CACNA1B):c.6323G>A (p.Arg2108Gln) rs1325101942 0.00001
NM_000719.7(CACNA1C):c.137C>T (p.Pro46Leu) rs770830796 0.00001
NM_000719.7(CACNA1C):c.477+100598G>A rs1165268789 0.00001
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) rs375571032 0.00001
NM_000726.5(CACNB4):c.147+14751T>C rs915286423 0.00001
NM_000742.4(CHRNA2):c.362G>T (p.Arg121Leu) rs752422797 0.00001
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys) rs752289948 0.00001
NM_000748.3(CHRNB2):c.1320C>A (p.Ser440Arg) rs1049048240 0.00001
NM_000748.3(CHRNB2):c.373G>A (p.Gly125Ser) rs922186544 0.00001
NM_000748.3(CHRNB2):c.694C>T (p.Arg232Cys) rs756406057 0.00001
NM_000807.4(GABRA2):c.764T>C (p.Ile255Thr) rs767460850 0.00001
NM_000810.4(GABRA5):c.1166C>T (p.Pro389Leu) rs779089481 0.00001
NM_000811.3(GABRA6):c.1078del (p.Ile360fs) rs1754805716 0.00001
NM_000812.4(GABRB1):c.1214G>A (p.Arg405His) rs999920078 0.00001
NM_000815.5(GABRD):c.1355T>C (p.Met452Thr) rs2102154147 0.00001
NM_000815.5(GABRD):c.715C>A (p.Leu239Met) rs2102152232 0.00001
NM_000834.5(GRIN2B):c.163G>A (p.Glu55Lys) rs763469464 0.00001
NM_000834.5(GRIN2B):c.2627C>T (p.Ala876Val) rs1458368988 0.00001
NM_000834.5(GRIN2B):c.3111C>A (p.Asp1037Glu) rs754878801 0.00001
NM_000836.4(GRIN2D):c.1558G>A (p.Val520Ile) rs761726968 0.00001
NM_000836.4(GRIN2D):c.3127C>T (p.Pro1043Ser) rs1326711404 0.00001
NM_000836.4(GRIN2D):c.3250G>A (p.Gly1084Ser) rs1340140743 0.00001
NM_000844.4(GRM7):c.1514A>G (p.Asn505Ser) rs546655932 0.00001
NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln) rs769709112 0.00001
NM_000892.5(KLKB1):c.-2+1G>C rs954965096 0.00001
NM_000937.5(POLR2A):c.3238A>G (p.Ile1080Val) rs774247772 0.00001
NM_001003694.2(BRPF1):c.2074C>T (p.Arg692Cys) rs780354293 0.00001
NM_001003699.4(RREB1):c.1459C>T (p.Pro487Ser) rs1767787536 0.00001
NM_001004067.4(NOMO3):c.1873C>T (p.Arg625Ter) rs1208366806 0.00001
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778 0.00001
NM_001005271.3(CHD3):c.250C>T (p.Pro84Ser) rs1329540442 0.00001
NM_001005273.3(CHD3):c.2084C>T (p.Pro695Leu) rs1969954027 0.00001
NM_001005273.3(CHD3):c.211C>T (p.Arg71Cys) rs758150597 0.00001
NM_001005273.3(CHD3):c.4361C>T (p.Ala1454Val) rs1359431103 0.00001
NM_001005273.3(CHD3):c.4861G>A (p.Val1621Met) rs1281078302 0.00001
NM_001005273.3(CHD3):c.4945G>C (p.Glu1649Gln) rs749147376 0.00001
NM_001005388.3(NFASC):c.3673G>A (p.Glu1225Lys) rs1249999680 0.00001
NM_001008537.3(NEXMIF):c.1021G>A (p.Val341Ile) rs745417882 0.00001
NM_001008537.3(NEXMIF):c.1877G>A (p.Arg626His) rs201084618 0.00001
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro) rs894871556 0.00001
NM_001008537.3(NEXMIF):c.653G>A (p.Arg218Gln) rs747496798 0.00001
NM_001014987.2(LAT):c.233T>C (p.Leu78Pro) rs1342632805 0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00001
NM_001018005.2(TPM1):c.852-4G>A rs374970923 0.00001
NM_001020658.2(PUM1):c.148C>G (p.Pro50Ala) rs1416271581 0.00001
NM_001020658.2(PUM1):c.1927A>G (p.Ser643Gly) rs764726099 0.00001
NM_001029896.2(WDR45):c.826G>A (p.Ala276Thr) rs2065030595 0.00001
NM_001032221.6(STXBP1):c.1364C>T (p.Thr455Met) rs762251880 0.00001
NM_001036.6(RYR3):c.10637C>T (p.Thr3546Ile) rs550033490 0.00001
NM_001036.6(RYR3):c.11494G>A (p.Ala3832Thr) rs1401792313 0.00001
NM_001036.6(RYR3):c.11894G>C (p.Cys3965Ser) rs982440028 0.00001
NM_001036.6(RYR3):c.14510C>T (p.Thr4837Met) rs745481097 0.00001
NM_001036.6(RYR3):c.2108A>G (p.Asn703Ser) rs1018806149 0.00001
NM_001036.6(RYR3):c.302G>A (p.Arg101Lys) rs751132721 0.00001
NM_001036.6(RYR3):c.4593G>A (p.Met1531Ile) rs770718730 0.00001
NM_001036.6(RYR3):c.5465G>A (p.Arg1822Gln) rs751944735 0.00001
NM_001036.6(RYR3):c.592A>G (p.Met198Val) rs139577597 0.00001
NM_001039111.3(TRIM71):c.2329G>A (p.Asp777Asn) rs779223962 0.00001
NM_001040142.2(SCN2A):c.1747C>G (p.Arg583Gly) rs1553571901 0.00001
NM_001040142.2(SCN2A):c.2046G>T (p.Lys682Asn) rs756493732 0.00001
NM_001040142.2(SCN2A):c.386+3535C>A rs891087983 0.00001
NM_001040142.2(SCN2A):c.970+6A>T rs371629371 0.00001
NM_001042424.3(NSD2):c.4090G>A (p.Gly1364Ser) rs548852837 0.00001
NM_001042492.3(NF1):c.1870T>C (p.Phe624Leu) rs765060733 0.00001
NM_001042492.3(NF1):c.256A>G (p.Ile86Val) rs757057811 0.00001
NM_001042492.3(NF1):c.4174-22A>G rs778166945 0.00001
NM_001042492.3(NF1):c.7323T>G (p.Ala2441=) rs765750009 0.00001
NM_001042681.2(RERE):c.116G>A (p.Arg39Gln) rs199717815 0.00001
NM_001042681.2(RERE):c.1735G>A (p.Gly579Ser) rs771592760 0.00001
NM_001042681.2(RERE):c.1768A>C (p.Lys590Gln) rs762635516 0.00001
NM_001042681.2(RERE):c.2557G>A (p.Gly853Ser) rs1297285666 0.00001
NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala) rs1259871272 0.00001
NM_001079802.2(FKTN):c.-89+8A>G rs1208628657 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079872.2(CUL4B):c.1651T>A (p.Ser551Thr) rs2147328768 0.00001
NM_001080414.4(CCDC88C):c.4864A>G (p.Thr1622Ala) rs1014956719 0.00001
NM_001080453.3(INTS1):c.3757A>C (p.Ile1253Leu) rs1015159931 0.00001
NM_001080453.3(INTS1):c.616G>C (p.Val206Leu) rs370240975 0.00001
NM_001080477.4(TENM3):c.749+4836T>G rs1748381052 0.00001
NM_001080517.3(SETD5):c.1592G>A (p.Arg531Gln) rs1257894154 0.00001
NM_001080517.3(SETD5):c.2855C>T (p.Pro952Leu) rs1475256332 0.00001
NM_001080517.3(SETD5):c.3011C>T (p.Pro1004Leu) rs1335595318 0.00001
NM_001080517.3(SETD5):c.3362G>A (p.Arg1121Gln) rs753829449 0.00001
NM_001080517.3(SETD5):c.4103C>T (p.Thr1368Ile) rs781208584 0.00001
NM_001083962.2(TCF4):c.*10A>G rs1599336148 0.00001
NM_001099402.2(CCNK):c.1363G>A (p.Gly455Arg) rs1217663367 0.00001
NM_001099402.2(CCNK):c.736G>A (p.Val246Ile) rs750789680 0.00001
NM_001100913.3(PACS2):c.2263G>A (p.Val755Ile) rs781913910 0.00001
NM_001100913.3(PACS2):c.452A>G (p.Gln151Arg) rs782108001 0.00001
NM_001100913.3(PACS2):c.827C>T (p.Ala276Val) rs377732984 0.00001
NM_001104631.2(PDE4D):c.2399G>T (p.Cys800Phe) rs779815130 0.00001
NM_001109809.5(ZFP57):c.751C>T (p.Arg251Cys) rs761414885 0.00001
NM_001110556.2(FLNA):c.3092T>C (p.Val1031Ala) rs782663281 0.00001
NM_001110556.2(FLNA):c.4243A>C (p.Ile1415Leu) rs2067686132 0.00001
NM_001110556.2(FLNA):c.4696G>A (p.Val1566Met) rs1181500076 0.00001
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met) rs782352193 0.00001
NM_001111.5(ADAR):c.3433A>G (p.Thr1145Ala) rs200084726 0.00001
NM_001111125.3(IQSEC2):c.496C>G (p.Leu166Val) rs1321322513 0.00001
NM_001122955.4(BSCL2):c.1049G>A (p.Arg350Gln) rs749917957 0.00001
NM_001122955.4(BSCL2):c.1354G>T (p.Ala452Ser) rs1060503382 0.00001
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113 0.00001
NM_001127222.2(CACNA1A):c.1810G>A (p.Val604Ile) rs756562814 0.00001
NM_001127222.2(CACNA1A):c.2287C>A (p.Gln763Lys) rs2057741441 0.00001
NM_001127392.3(MYRF):c.1420G>A (p.Val474Met) rs772535193 0.00001
NM_001128840.3(CACNA1D):c.2165C>T (p.Ser722Phe) rs1203607570 0.00001
NM_001128840.3(CACNA1D):c.5342C>G (p.Ser1781Cys) rs2095534880 0.00001
NM_001130021.3(ATP6V0A1):c.1649T>C (p.Phe550Ser) rs139770191 0.00001
NM_001130144.3(LTBP3):c.3392C>T (p.Ala1131Val) rs1338933893 0.00001
NM_001130438.3(SPTAN1):c.3667G>A (p.Glu1223Lys) rs773140619 0.00001
NM_001130823.3(DNMT1):c.4393G>A (p.Gly1465Ser) rs754833277 0.00001
NM_001134382.3(IQSEC1):c.122C>T (p.Pro41Leu) rs751369634 0.00001
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr) rs1555482611 0.00001
NM_001134407.3(GRIN2A):c.4324C>G (p.Pro1442Ala) rs59975221 0.00001
NM_001135651.3(EIF2AK2):c.268A>G (p.Thr90Ala) rs199931311 0.00001
NM_001142569.3(INAVA):c.178G>T (p.Ala60Ser) rs773330158 0.00001
NM_001144967.3(NEDD4L):c.1114G>A (p.Glu372Lys) rs765869459 0.00001
NM_001144967.3(NEDD4L):c.449T>C (p.Met150Thr) rs2059009080 0.00001
NM_001145358.2(SIN3A):c.1159G>A (p.Val387Met) rs1010772312 0.00001
NM_001145358.2(SIN3A):c.286G>A (p.Gly96Ser) rs761104318 0.00001
NM_001145358.2(SIN3A):c.3614G>A (p.Arg1205His) rs747873220 0.00001
NM_001148.6(ANK2):c.340A>G (p.Lys114Glu) rs1562826841 0.00001
NM_001148.6(ANK2):c.4252C>T (p.Arg1418Cys) rs749093363 0.00001
NM_001148.6(ANK2):c.9665C>A (p.Thr3222Asn) rs2095939172 0.00001
NM_001160372.4(TRAPPC9):c.19A>G (p.Met7Val) rs745921994 0.00001
NM_001161352.2(KCNMA1):c.1332C>T (p.His444=) rs202124080 0.00001
NM_001161352.2(KCNMA1):c.3147+6T>C rs558650814 0.00001
NM_001162501.2(TNRC6B):c.2489C>T (p.Pro830Leu) rs2070486434 0.00001
NM_001163809.2(WDR81):c.5179+6C>T rs748777672 0.00001
NM_001164508.2(NEB):c.24850G>A (p.Glu8284Lys) rs376973987 0.00001
NM_001164508.2(NEB):c.4151C>G (p.Pro1384Arg) rs762809955 0.00001
NM_001164664.2(MAST4):c.3526-3T>C rs1342348159 0.00001
NM_001165963.4(SCN1A):c.1436T>C (p.Leu479Pro) rs1697679015 0.00001
NM_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr) rs1247949520 0.00001
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln) rs121917912 0.00001
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile) rs1260685558 0.00001
NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr) rs766656231 0.00001
NM_001170535.3(ATAD3A):c.1577C>G (p.Ser526Trp) rs773606388 0.00001
NM_001170629.2(CHD8):c.3331G>C (p.Glu1111Gln) rs970353812 0.00001
NM_001170629.2(CHD8):c.4846G>C (p.Asp1616His) rs1055883888 0.00001
NM_001184.4(ATR):c.6089C>T (p.Ala2030Val) rs755650081 0.00001
NM_001194.4(HCN2):c.2279G>A (p.Arg760His) rs1983900447 0.00001
NM_001197104.2(KMT2A):c.2405C>G (p.Ser802Cys) rs782623689 0.00001
NM_001197104.2(KMT2A):c.2929G>A (p.Gly977Ser) rs782439084 0.00001
NM_001197104.2(KMT2A):c.4433G>A (p.Arg1478His) rs1555041629 0.00001
NM_001200.4(BMP2):c.922G>A (p.Val308Met) rs758959332 0.00001
NM_001205293.3(CACNA1E):c.1696T>C (p.Phe566Leu) rs377297262 0.00001
NM_001205293.3(CACNA1E):c.2314C>T (p.Arg772Trp) rs1355669731 0.00001
NM_001205293.3(CACNA1E):c.2774G>A (p.Arg925His) rs373971175 0.00001
NM_001205293.3(CACNA1E):c.32G>T (p.Arg11Met) rs767620162 0.00001
NM_001205293.3(CACNA1E):c.4187G>A (p.Arg1396His) rs776066299 0.00001
NM_001205293.3(CACNA1E):c.513-15449G>A rs1649408073 0.00001
NM_001205293.3(CACNA1E):c.6901A>G (p.Asn2301Asp) rs1662050689 0.00001
NM_001220.5(CAMK2B):c.1399G>A (p.Glu467Lys) rs374476287 0.00001
NM_001228.5(CASP8):c.-26-6994T>C rs905759639 0.00001
NM_001242896.3(DEPDC5):c.1081+4A>G rs757563918 0.00001
NM_001243133.2(NLRP3):c.2951T>A (p.Val984Asp) rs778650629 0.00001
NM_001244008.2(KIF1A):c.2617C>T (p.Leu873Phe) rs2050011882 0.00001
NM_001244008.2(KIF1A):c.4648C>T (p.Arg1550Trp) rs1468401006 0.00001
NM_001244008.2(KIF1A):c.5214+3G>A rs1394328434 0.00001
NM_001244008.2(KIF1A):c.5216C>T (p.Thr1739Ile) rs371267255 0.00001
NM_001244710.2(GFPT1):c.686dup (p.Ala229_Arg230insTer) rs1380136176 0.00001
NM_001247997.2(CLIP1):c.3800A>G (p.Lys1267Arg) rs372003670 0.00001
NM_001247997.2(CLIP1):c.4118A>G (p.Lys1373Arg) rs374978178 0.00001
NM_001252102.2(KIF21B):c.2156G>A (p.Arg719Gln) rs1345199231 0.00001
NM_001252102.2(KIF21B):c.4303G>A (p.Val1435Ile) rs759837389 0.00001
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln) rs1038557470 0.00001
NM_001256071.3(RNF213):c.14729T>C (p.Val4910Ala) rs1253832723 0.00001
NM_001256071.3(RNF213):c.2743C>T (p.Arg915Ter) rs750596095 0.00001
NM_001257096.2(PAX1):c.811C>G (p.Pro271Ala) rs756166944 0.00001
NM_001258392.3(CLPB):c.1308C>G (p.Ile436Met) rs140355579 0.00001
NM_001260.3(CDK8):c.1322C>T (p.Pro441Leu) rs1232323179 0.00001
NM_001267550.2(TTN):c.102274C>T (p.Arg34092Cys) rs765435004 0.00001
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr) rs758073208 0.00001
NM_001267550.2(TTN):c.12026A>G (p.Tyr4009Cys) rs753367343 0.00001
NM_001267550.2(TTN):c.13205C>T (p.Ala4402Val) rs756976503 0.00001
NM_001267550.2(TTN):c.17376T>G (p.Ile5792Met) rs1041967765 0.00001
NM_001267550.2(TTN):c.1863A>C (p.Lys621Asn) rs2093407447 0.00001
NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala) rs2077087035 0.00001
NM_001267550.2(TTN):c.35224A>G (p.Lys11742Glu) rs2067071366 0.00001
NM_001267550.2(TTN):c.35363A>G (p.Glu11788Gly) rs756069642 0.00001
NM_001267550.2(TTN):c.37433C>T (p.Pro12478Leu) rs1302865780 0.00001
NM_001267550.2(TTN):c.41423G>A (p.Arg13808His) rs764850788 0.00001
NM_001267550.2(TTN):c.42714T>A (p.His14238Gln) rs1438979717 0.00001
NM_001267550.2(TTN):c.43156G>A (p.Gly14386Arg) rs762501686 0.00001
NM_001267550.2(TTN):c.44053G>A (p.Glu14685Lys) rs1473069344 0.00001
NM_001267550.2(TTN):c.54418C>T (p.Arg18140Ter) rs747236787 0.00001
NM_001267550.2(TTN):c.55660C>T (p.Arg18554Ter) rs1483931960 0.00001
NM_001267550.2(TTN):c.60524C>T (p.Pro20175Leu) rs771358314 0.00001
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 0.00001
NM_001267550.2(TTN):c.67348+1G>A rs758279518 0.00001
NM_001267550.2(TTN):c.69420del (p.Gly23141fs) rs1330960948 0.00001
NM_001267550.2(TTN):c.70013G>A (p.Arg23338Gln) rs78916558 0.00001
NM_001267550.2(TTN):c.725A>G (p.Asp242Gly) rs773021696 0.00001
NM_001267550.2(TTN):c.72713C>T (p.Ser24238Leu) rs786205303 0.00001
NM_001267550.2(TTN):c.88379T>C (p.Leu29460Pro) rs1273946474 0.00001
NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile) rs749433506 0.00001
NM_001267550.2(TTN):c.91583T>G (p.Phe30528Cys) rs1698818186 0.00001
NM_001267550.2(TTN):c.94520T>C (p.Val31507Ala) rs371097838 0.00001
NM_001267550.2(TTN):c.94855C>T (p.Arg31619Ter) rs869312121 0.00001
NM_001267550.2(TTN):c.95665G>A (p.Ala31889Thr) rs1025105445 0.00001
NM_001267550.2(TTN):c.98917A>G (p.Ile32973Val) rs773080115 0.00001
NM_001270.4(CHD1):c.4976G>C (p.Arg1659Thr) rs2112435759 0.00001
NM_001273.5(CHD4):c.5119+6G>C rs753607968 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00001
NM_001278293.3(ARL6):c.-27-3C>T rs745854688 0.00001
NM_001278512.2(AP3B2):c.360+7G>A rs1469176151 0.00001
NM_001282225.2(ADA2):c.88A>G (p.Ile30Val) rs1601462414 0.00001
NM_001282874.2(SMARCA1):c.2217G>A (p.Lys739=) rs1933921672 0.00001
NM_001286577.2(C2CD3):c.6001del (p.Cys2001fs) rs1398494529 0.00001
NM_001287.6(CLCN7):c.2018C>T (p.Ala673Val) rs1430982446 0.00001
NM_001287.6(CLCN7):c.2074G>A (p.Val692Met) rs781763863 0.00001
NM_001287491.2(TET3):c.3040-8C>T rs912764133 0.00001
NM_001289125.3(IFNAR2):c.1067A>G (p.Glu356Gly) rs746319376 0.00001
NM_001291867.2(NHS):c.3131C>T (p.Pro1044Leu) rs748149517 0.00001
NM_001302461.2(KLF13):c.728C>T (p.Ala243Val) rs969811939 0.00001
NM_001303256.3(MORC2):c.2188T>A (p.Ser730Thr) rs759091855 0.00001
NM_001303256.3(MORC2):c.3094G>T (p.Asp1032Tyr) rs2040491146 0.00001
NM_001308210.2(TSHZ1):c.2753T>C (p.Met918Thr) rs754333350 0.00001
NM_001318510.2(ACSL4):c.1502C>A (p.Ser501Tyr) rs766630384 0.00001
NM_001318852.2(MAPK8IP3):c.2811G>C (p.Gln937His) rs765040996 0.00001
NM_001318852.2(MAPK8IP3):c.3814G>A (p.Ala1272Thr) rs759987645 0.00001
NM_001318852.2(MAPK8IP3):c.833C>T (p.Thr278Ile) rs1365639070 0.00001
NM_001321075.3(DLG4):c.740G>A (p.Ser247Asn) rs200396689 0.00001
NM_001321075.3(DLG4):c.96+6C>A rs769063541 0.00001
NM_001321219.2(B9D1):c.425C>A (p.Ser142Ter) rs777184315 0.00001
NM_001321324.2(MOV10):c.869C>T (p.Ala290Val) rs764361211 0.00001
NM_001330195.2(NRXN3):c.2033C>T (p.Thr678Ile) rs769211538 0.00001
NM_001330260.2(SCN8A):c.235G>A (p.Val79Ile) rs775593096 0.00001
NM_001330260.2(SCN8A):c.3433G>A (p.Glu1145Lys) rs1324401898 0.00001
NM_001330260.2(SCN8A):c.5613G>C (p.Glu1871Asp) rs1230372504 0.00001
NM_001330288.2(SMARCC2):c.3098C>A (p.Ala1033Asp) rs776778840 0.00001
NM_001330700.2(TOP2B):c.4870A>G (p.Met1624Val) rs774627996 0.00001
NM_001347721.2(DYRK1A):c.2098C>T (p.Arg700Cys) rs781697806 0.00001
NM_001348323.3(TRIP12):c.2071G>T (p.Val691Phe) rs1305168076 0.00001
NM_001348323.3(TRIP12):c.5938A>G (p.Ser1980Gly) rs749300014 0.00001
NM_001348323.3(TRIP12):c.748G>A (p.Ala250Thr) rs539119124 0.00001
NM_001348323.3(TRIP12):c.78A>C (p.Gln26His) rs1046355070 0.00001
NM_001348716.2(KDM6B):c.2248G>A (p.Ala750Thr) rs377466652 0.00001
NM_001348716.2(KDM6B):c.2860C>T (p.Pro954Ser) rs763243264 0.00001
NM_001348716.2(KDM6B):c.4165+3G>A rs1466034954 0.00001
NM_001348716.2(KDM6B):c.712A>G (p.Thr238Ala) rs751343288 0.00001
NM_001353345.2(SETD1B):c.3968C>T (p.Pro1323Leu) rs1009181729 0.00001
NM_001353345.2(SETD1B):c.4361G>A (p.Arg1454Gln) rs1283554554 0.00001
NM_001353345.2(SETD1B):c.4465G>A (p.Val1489Ile) rs1294166078 0.00001
NM_001353921.2(ARHGEF9):c.421C>T (p.Arg141Trp) rs782001294 0.00001
NM_001354712.2(THRB):c.-261+65743G>A rs1054051271 0.00001
NM_001363711.2(DUOX2):c.4634A>G (p.Tyr1545Cys) rs763639251 0.00001
NM_001365536.1(SCN9A):c.262T>C (p.Phe88Leu) rs1012999498 0.00001
NM_001365536.1(SCN9A):c.5552G>A (p.Gly1851Asp) rs757285775 0.00001
NM_001365536.1(SCN9A):c.5681C>G (p.Thr1894Ser) rs1264234784 0.00001
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile) rs745970630 0.00001
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter) rs1654854600 0.00001
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter) rs1005930319 0.00001
NM_001365999.1(SZT2):c.9892C>T (p.Arg3298Cys) rs764177776 0.00001
NM_001365999.1(SZT2):c.9941A>G (p.Lys3314Arg) rs758380489 0.00001
NM_001366110.1(PAX4):c.454G>A (p.Val152Ile) rs752253116 0.00001
NM_001366145.2(TRPM3):c.1106C>T (p.Ser369Leu) rs774462289 0.00001
NM_001366145.2(TRPM3):c.5005A>C (p.Ser1669Arg) rs768982135 0.00001
NM_001367561.1(DOCK7):c.721T>C (p.Ser241Pro) rs894086772 0.00001
NM_001367916.1(MAGT1):c.-3A>G rs781882781 0.00001
NM_001368397.1(FRMPD4):c.2882G>A (p.Gly961Glu) rs1281878974 0.00001
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys) rs762848961 0.00001
NM_001369.3(DNAH5):c.8314C>T (p.Arg2772Ter) rs781469274 0.00001
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile) rs1567407613 0.00001
NM_001370658.1(BTD):c.1399del (p.Trp467fs) rs397514423 0.00001
NM_001371189.2(UNC13B):c.4216G>A (p.Asp1406Asn) rs1008082717 0.00001
NM_001371727.1(GABRB2):c.1043C>A (p.Ala348Asp) rs750967511 0.00001
NM_001371928.1(AHDC1):c.1405C>T (p.Arg469Trp) rs1309806240 0.00001
NM_001371928.1(AHDC1):c.3778T>C (p.Tyr1260His) rs774547651 0.00001
NM_001372.4(DNAH9):c.4778A>G (p.Tyr1593Cys) rs778538874 0.00001
NM_001374353.1(GLI2):c.1183-54C>T rs1682377263 0.00001
NM_001374353.1(GLI2):c.4466A>G (p.Glu1489Gly) rs754008467 0.00001
NM_001374828.1(ARID1B):c.2069C>T (p.Pro690Leu) rs779239519 0.00001
NM_001374828.1(ARID1B):c.5602G>A (p.Glu1868Lys) rs528801298 0.00001
NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala) rs1850109343 0.00001
NM_001375524.1(TRRAP):c.10213A>T (p.Met3405Leu) rs1201429732 0.00001
NM_001375524.1(TRRAP):c.6149C>T (p.Ser2050Leu) rs1791617298 0.00001
NM_001375765.1(GIGYF1):c.1787C>T (p.Pro596Leu) rs769494936 0.00001
NM_001376.5(DYNC1H1):c.11684C>T (p.Thr3895Ile) rs771563083 0.00001
NM_001376.5(DYNC1H1):c.13682C>T (p.Thr4561Met) rs1376784009 0.00001
NM_001376.5(DYNC1H1):c.8275A>G (p.Ile2759Val) rs1131691452 0.00001
NM_001376571.1(MADD):c.1943G>T (p.Cys648Phe) rs540783175 0.00001
NM_001377229.1(DISP1):c.992G>C (p.Arg331Thr) rs1679522239 0.00001
NM_001378183.1(PIEZO2):c.4708+2T>G rs1189625999 0.00001
NM_001378183.1(PIEZO2):c.5227C>T (p.Arg1743Ter) rs886039821 0.00001
NM_001378418.1(TCF20):c.1894C>A (p.Pro632Thr) rs1378093754 0.00001
NM_001378418.1(TCF20):c.3121G>C (p.Glu1041Gln) rs1450225029 0.00001
NM_001378418.1(TCF20):c.5549A>G (p.Asn1850Ser) rs780958269 0.00001
NM_001378452.1(ITPR1):c.3199G>A (p.Gly1067Ser) rs776099053 0.00001
NM_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met) rs767799669 0.00001
NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly) rs757748994 0.00001
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser) rs747529471 0.00001
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr) rs1039388814 0.00001
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp) rs1180446025 0.00001
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu) rs764135588 0.00001
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr) rs1350478153 0.00001
NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp) rs193286818 0.00001
NM_001378454.1(ALMS1):c.709G>T (p.Glu237Ter) rs989080548 0.00001
NM_001379200.1(TBX1):c.61G>A (p.Ala21Thr) rs1252544416 0.00001
NM_001379403.1(WDR26):c.1916G>A (p.Arg639Gln) rs760399308 0.00001
NM_001379451.1(BCORL1):c.164G>A (p.Ser55Asn) rs1179687241 0.00001
NM_001379500.1(COL18A1):c.845C>T (p.Thr282Met) rs774455419 0.00001
NM_001382273.1(TNK2):c.2864C>G (p.Thr955Ser) rs886520739 0.00001
NM_001382273.1(TNK2):c.572G>C (p.Arg191Pro) rs751730320 0.00001
NM_001382567.1(STIM1):c.386-11734G>A rs1278421182 0.00001
NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter) rs749523755 0.00001
NM_001385012.1(NBEA):c.4739G>A (p.Arg1580His) rs986998229 0.00001
NM_001385012.1(NBEA):c.6503A>T (p.Lys2168Met) rs1006197142 0.00001
NM_001385012.1(NBEA):c.8760T>G (p.Ile2920Met) rs763083629 0.00001
NM_001386135.1(AFF3):c.1091+27078C>G rs960285071 0.00001
NM_001386140.1(MTTP):c.1325A>G (p.Asn442Ser) rs368711749 0.00001
NM_001386298.1(CIC):c.1324T>G (p.Ser442Ala) rs2036846589 0.00001
NM_001386298.1(CIC):c.1691C>T (p.Thr564Met) rs1344969760 0.00001
NM_001386298.1(CIC):c.1829G>A (p.Arg610His) rs2036863074 0.00001
NM_001386298.1(CIC):c.5030C>T (p.Pro1677Leu) rs774119037 0.00001
NM_001386298.1(CIC):c.5282C>T (p.Ala1761Val) rs751712390 0.00001
NM_001386298.1(CIC):c.5708A>G (p.Gln1903Arg) rs906467634 0.00001
NM_001386298.1(CIC):c.5884G>A (p.Val1962Met) rs773634795 0.00001
NM_001386298.1(CIC):c.844C>T (p.Arg282Trp) rs1191474182 0.00001
NM_001386298.1(CIC):c.968G>A (p.Arg323His) rs886934809 0.00001
NM_001386795.1(DTNA):c.953C>A (p.Pro318His) rs727505085 0.00001
NM_001393504.1(MAST3):c.1607C>T (p.Thr536Met) rs772530453 0.00001
NM_001393769.1(MED12L):c.701A>G (p.Glu234Gly) rs761030969 0.00001
NM_001394062.1(MACF1):c.1163C>T (p.Pro388Leu) rs750656239 0.00001
NM_001394062.1(MACF1):c.12581G>A (p.Ser4194Asn) rs1648184698 0.00001
NM_001394062.1(MACF1):c.12752A>G (p.His4251Arg) rs928357099 0.00001
NM_001394062.1(MACF1):c.18866C>T (p.Thr6289Met) rs377031601 0.00001
NM_001394062.1(MACF1):c.3838G>A (p.Gly1280Arg) rs946088984 0.00001
NM_001394073.1(HS6ST2):c.155C>T (p.Ala52Val) rs1343137006 0.00001
NM_001394073.1(HS6ST2):c.322G>A (p.Gly108Ser) rs1314814300 0.00001
NM_001394372.1(BICRA):c.2404C>T (p.Arg802Cys) rs1327727725 0.00001
NM_001394372.1(BICRA):c.4565C>T (p.Ser1522Leu) rs1186261410 0.00001
NM_001394998.1(TANC2):c.1844T>C (p.Ile615Thr) rs987148166 0.00001
NM_001394998.1(TANC2):c.2951A>G (p.Asn984Ser) rs1370792562 0.00001
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys) rs772897576 0.00001
NM_001440.4(EXTL3):c.472C>T (p.Arg158Ter) rs1369665958 0.00001
NM_001457.4(FLNB):c.5059T>C (p.Tyr1687His) rs774862180 0.00001
NM_001458.5(FLNC):c.2081C>T (p.Ala694Val) rs1315847764 0.00001
NM_001458.5(FLNC):c.2811+5G>A rs781538211 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_001606.5(ABCA2):c.6034T>C (p.Tyr2012His) rs777122990 0.00001
NM_001792.5(CDH2):c.1604C>G (p.Thr535Ser) rs546438155 0.00001
NM_001794.5(CDH4):c.169+234620C>T rs2085614485 0.00001
NM_001846.4(COL4A2):c.2414C>T (p.Pro805Leu) rs1376206514 0.00001
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp) rs754829210 0.00001
NM_001846.4(COL4A2):c.4892C>T (p.Ala1631Val) rs201495557 0.00001
NM_001846.4(COL4A2):c.964C>T (p.Arg322Ter) rs1237717942 0.00001
NM_001913.5(CUX1):c.1627G>A (p.Asp543Asn) rs781903195 0.00001
NM_001927.4(DES):c.209G>C (p.Arg70Pro) rs933438188 0.00001
NM_001958.5(EEF1A2):c.653G>A (p.Arg218His) rs1459691759 0.00001
NM_001958.5(EEF1A2):c.667G>A (p.Ala223Thr) rs778585590 0.00001
NM_002016.2(FLG):c.10054A>G (p.Thr3352Ala) rs759537361 0.00001
NM_002055.5(GFAP):c.882C>A (p.Cys294Ter) rs200034725 0.00001
NM_002234.4(KCNA5):c.10G>T (p.Ala4Ser) rs1174382266 0.00001
NM_002240.5(KCNJ6):c.25+11980A>G rs2055410500 0.00001
NM_002293.4(LAMC1):c.3528G>C (p.Met1176Ile) rs777343448 0.00001
NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe) rs1231351538 0.00001
NM_002303.6(LEPR):c.976C>T (p.Arg326Cys) rs771516479 0.00001
NM_002393.5(MDM4):c.1045A>G (p.Ile349Val) rs1346731264 0.00001
NM_002465.4(MYBPC1):c.952C>T (p.Arg318Ter) rs397515422 0.00001
NM_002471.4(MYH6):c.1120G>T (p.Ala374Ser) rs1891633873 0.00001
NM_002473.6(MYH9):c.3193G>A (p.Ala1065Thr) rs1423642805 0.00001
NM_002508.3(NID1):c.1403G>A (p.Arg468His) rs751680686 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002539.3(ODC1):c.103G>A (p.Asp35Asn) rs1425530118 0.00001
NM_002539.3(ODC1):c.1187C>T (p.Thr396Met) rs770687907 0.00001
NM_002539.3(ODC1):c.1270G>A (p.Asp424Asn) rs577671630 0.00001
NM_002576.5(PAK1):c.387del (p.Glu129fs) rs1949516794 0.00001
NM_002576.5(PAK1):c.814C>T (p.Arg272Trp) rs767363828 0.00001
NM_002599.5(PDE2A):c.2134-2A>G rs111657177 0.00001
NM_002609.4(PDGFRB):c.1090G>A (p.Glu364Lys) rs754790326 0.00001
NM_002653.5(PITX1):c.158C>T (p.Thr53Met) rs777634577 0.00001
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00001
NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln) rs752897300 0.00001
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr) rs1415602777 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002880.4(RAF1):c.884G>C (p.Ser295Thr) rs191560404 0.00001
NM_003001.5(SDHC):c.1A>G (p.Met1Val) rs755235380 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_003036.4(SKI):c.623C>T (p.Ala208Val) rs1276237576 0.00001
NM_003041.4(SLC5A2):c.226A>G (p.Ile76Val) rs750542045 0.00001
NM_003041.4(SLC5A2):c.350A>G (p.Tyr117Cys) rs202108504 0.00001
NM_003042.4(SLC6A1):c.582-3C>T rs368174761 0.00001
NM_003072.5(SMARCA4):c.4876G>A (p.Val1626Met) rs757412819 0.00001
NM_003072.5(SMARCA4):c.731C>T (p.Pro244Leu) rs587778683 0.00001
NM_003073.5(SMARCB1):c.1118+4C>G rs374197835 0.00001
NM_003073.5(SMARCB1):c.1118+6C>G rs200675113 0.00001
NM_003200.5(TCF3):c.107G>A (p.Arg36Gln) rs1011180356 0.00001
NM_003221.4(TFAP2B):c.811G>C (p.Val271Leu) rs1261797446 0.00001
NM_003242.6(TGFBR2):c.95-3679C>A rs1312697004 0.00001
NM_003244.4(TGIF1):c.16+1829G>A rs764152878 0.00001
NM_003403.5(YY1):c.202G>A (p.Ala68Thr) rs1246486173 0.00001
NM_003412.4(ZIC1):c.1238C>A (p.Ser413Tyr) rs2087400556 0.00001
NM_003470.3(USP7):c.2140C>T (p.Arg714Cys) rs753346185 0.00001
NM_003470.3(USP7):c.3039+3A>G rs1400807618 0.00001
NM_003470.3(USP7):c.530C>A (p.Thr177Asn) rs769192378 0.00001
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val) rs1943073751 0.00001
NM_003482.4(KMT2D):c.12605A>C (p.Gln4202Pro) rs1276517318 0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe) rs750774484 0.00001
NM_003482.4(KMT2D):c.13346T>A (p.Leu4449His) rs757710580 0.00001
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe) rs771209224 0.00001
NM_003482.4(KMT2D):c.15707A>G (p.Asn5236Ser) rs1458393564 0.00001
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His) rs745599611 0.00001
NM_003482.4(KMT2D):c.307C>T (p.Pro103Ser) rs976882824 0.00001
NM_003482.4(KMT2D):c.3896G>A (p.Arg1299His) rs1266718915 0.00001
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn) rs779260688 0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6884C>T (p.Ser2295Phe) rs758685548 0.00001
NM_003560.4(PLA2G6):c.1957G>A (p.Gly653Ser) rs754204295 0.00001
NM_003587.5(DHX16):c.2566C>T (p.Arg856Ter) rs891765304 0.00001
NM_003673.4(TCAP):c.394G>C (p.Glu132Gln) rs748358368 0.00001
NM_003718.5(CDK13):c.4008G>C (p.Lys1336Asn) rs754856422 0.00001
NM_003754.3(EIF3F):c.263G>A (p.Gly88Asp) rs1423611756 0.00001
NM_003922.4(HERC1):c.11078C>T (p.Thr3693Ile) rs755353533 0.00001
NM_003966.3(SEMA5A):c.-78+14596C>T rs758974452 0.00001
NM_003998.4(NFKB1):c.482C>T (p.Ala161Val) rs1354534120 0.00001
NM_004006.3(DMD):c.2312C>T (p.Ala771Val) rs1245604423 0.00001
NM_004035.7(ACOX1):c.538+1G>A rs1466419887 0.00001
NM_004100.5(EYA4):c.44C>T (p.Thr15Met) rs769070323 0.00001
NM_004113.6(FGF12):c.145G>C (p.Val49Leu) rs199832838 0.00001
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr) rs956332291 0.00001
NM_004172.5(SLC1A3):c.476G>A (p.Gly159Asp) rs1167788931 0.00001
NM_004187.5(KDM5C):c.4523C>T (p.Pro1508Leu) rs1556832305 0.00001
NM_004247.4(EFTUD2):c.1994C>T (p.Thr665Met) rs2050571775 0.00001
NM_004274.5(AKAP6):c.5729C>T (p.Pro1910Leu) rs771986930 0.00001
NM_004279.3(PMPCB):c.606T>A (p.Tyr202Ter) rs748505216 0.00001
NM_004281.4(BAG3):c.13A>G (p.Thr5Ala) rs777752849 0.00001
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660 0.00001
NM_004341.5(CAD):c.6047G>A (p.Cys2016Tyr) rs768937191 0.00001
NM_004366.6(CLCN2):c.2623C>G (p.Leu875Val) rs755134167 0.00001
NM_004380.3(CREBBP):c.3893A>G (p.Tyr1298Cys) rs773159964 0.00001
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu) rs557611780 0.00001
NM_004380.3(CREBBP):c.6839G>A (p.Gly2280Glu) rs781438241 0.00001
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr) rs759518211 0.00001
NM_004397.6(DDX6):c.566A>G (p.Lys189Arg) rs369123795 0.00001
NM_004408.4(DNM1):c.1558-3C>T rs546517702 0.00001
NM_004408.4(DNM1):c.2535-613C>T rs1385389663 0.00001
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His) rs1204519015 0.00001
NM_004519.4(KCNQ3):c.387-19849G>A rs991514927 0.00001
NM_004523.4(KIF11):c.1823T>C (p.Leu608Pro) rs535517017 0.00001
NM_004525.3(LRP2):c.1709G>A (p.Arg570His) rs770867082 0.00001
NM_004525.3(LRP2):c.1978A>G (p.Thr660Ala) rs556737893 0.00001
NM_004539.4(NARS1):c.644G>T (p.Gly215Val) rs2051570122 0.00001
NM_004544.4(NDUFA10):c.590A>G (p.Asp197Gly) rs748683797 0.00001
NM_004577.4(PSPH):c.301C>T (p.Arg101Ter) rs1264747554 0.00001
NM_004614.5(TK2):c.441del (p.Tyr148fs) rs768548319 0.00001
NM_004656.4(BAP1):c.74A>G (p.Lys25Arg) rs759337168 0.00001
NM_004667.6(HERC2):c.11716C>T (p.Arg3906Cys) rs770688775 0.00001
NM_004836.7(EIF2AK3):c.2104C>G (p.Pro702Ala) rs781754103 0.00001
NM_004859.4(CLTC):c.2503G>A (p.Val835Ile) rs373696281 0.00001
NM_004859.4(CLTC):c.4904-4G>A rs755404780 0.00001
NM_004947.5(DOCK3):c.2002G>A (p.Val668Met) rs369711717 0.00001
NM_004958.4(MTOR):c.4597A>G (p.Thr1533Ala) rs1250124959 0.00001
NM_004963.4(GUCY2C):c.2875+99A>G rs1415414290 0.00001
NM_004975.4(KCNB1):c.1936G>A (p.Ala646Thr) rs1447311755 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_005045.4(RELN):c.2313G>T (p.Gln771His) rs777581847 0.00001
NM_005045.4(RELN):c.6440A>C (p.Lys2147Thr) rs1184255602 0.00001
NM_005045.4(RELN):c.7963A>G (p.Ile2655Val) rs1829536442 0.00001
NM_005045.4(RELN):c.8051G>A (p.Arg2684His) rs201157987 0.00001
NM_005051.3(QARS1):c.1170G>A (p.Met390Ile) rs1559967769 0.00001
NM_005051.3(QARS1):c.1543C>T (p.Arg515Trp) rs587777334 0.00001
NM_005068.3(SIM1):c.1643G>A (p.Arg548Gln) rs149460504 0.00001
NM_005068.3(SIM1):c.1822A>G (p.Asn608Asp) rs1403566831 0.00001
NM_005097.4(LGI1):c.1129T>C (p.Tyr377His) rs758203843 0.00001
NM_005121.3(MED13):c.3496C>G (p.Leu1166Val) rs1476770233 0.00001
NM_005121.3(MED13):c.3796A>G (p.Lys1266Glu) rs1567957489 0.00001
NM_005121.3(MED13):c.4163T>G (p.Phe1388Cys) rs2080074728 0.00001
NM_005121.3(MED13):c.4468C>T (p.Pro1490Ser) rs756580776 0.00001
NM_005137.3(DGCR2):c.221G>A (p.Arg74His) rs1430960797 0.00001
NM_005188.4(CBL):c.195+6902A>G rs1438466765 0.00001
NM_005334.3(HCFC1):c.503+6G>A rs1048267564 0.00001
NM_005445.4(SMC3):c.1580A>G (p.His527Arg) rs756254563 0.00001
NM_005458.8(GABBR2):c.143G>A (p.Arg48Gln) rs1431110237 0.00001
NM_005465.7(AKT3):c.47-52492A>G rs1688596080 0.00001
NM_005474.5(HDAC5):c.22+1436G>T rs2052627271 0.00001
NM_005477.3(HCN4):c.2504C>T (p.Ser835Phe) rs2549068928 0.00001
NM_005502.4(ABCA1):c.1227C>G (p.Phe409Leu) rs1332525147 0.00001
NM_005502.4(ABCA1):c.5762A>G (p.Tyr1921Cys) rs995195717 0.00001
NM_005502.4(ABCA1):c.6057A>C (p.Lys2019Asn) rs569456967 0.00001
NM_005502.4(ABCA1):c.720+3681G>A rs1166135551 0.00001
NM_005502.4(ABCA1):c.844C>T (p.Arg282Ter) rs374404992 0.00001
NM_005585.5(SMAD6):c.731T>C (p.Leu244Pro) rs1457962668 0.00001
NM_005618.4(DLL1):c.1174C>T (p.Arg392Cys) rs1165017188 0.00001
NM_005618.4(DLL1):c.1384G>A (p.Val462Met) rs748072021 0.00001
NM_005618.4(DLL1):c.1551G>C (p.Gln517His) rs780160859 0.00001
NM_005850.5(SF3B4):c.716C>T (p.Pro239Leu) rs1553765987 0.00001
NM_005901.6(SMAD2):c.634C>G (p.Pro212Ala) rs1256444049 0.00001
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile) rs202100945 0.00001
NM_005909.5(MAP1B):c.3131A>C (p.Tyr1044Ser) rs183294054 0.00001
NM_005909.5(MAP1B):c.6935G>A (p.Arg2312His) rs148824055 0.00001
NM_005912.3(MC4R):c.171del (p.Ser58fs) rs746241281 0.00001
NM_005993.5(TBCD):c.907C>T (p.Arg303Ter) rs751190601 0.00001
NM_006005.3(WFS1):c.1620G>T (p.Trp540Cys) rs1038816435 0.00001
NM_006005.3(WFS1):c.2175C>G (p.Phe725Leu) rs375880230 0.00001
NM_006005.3(WFS1):c.883G>A (p.Ala295Thr) rs537052067 0.00001
NM_006014.5(LAGE3):c.184A>G (p.Ile62Val) rs781993131 0.00001
NM_006035.4(CDC42BPB):c.1123G>A (p.Asp375Asn) rs1185383388 0.00001
NM_006059.4(LAMC3):c.607G>A (p.Gly203Ser) rs759660042 0.00001
NM_006160.4(NEUROD2):c.169C>T (p.Pro57Ser) rs981371381 0.00001
NM_006180.6(NTRK2):c.446C>T (p.Pro149Leu) rs201757733 0.00001
NM_006218.4(PIK3CA):c.2530T>C (p.Cys844Arg) rs756890248 0.00001
NM_006231.4(POLE):c.3089T>A (p.Phe1030Tyr) rs1565956275 0.00001
NM_006245.4(PPP2R5D):c.1303A>G (p.Ile435Val) rs755300874 0.00001
NM_006245.4(PPP2R5D):c.1609G>A (p.Glu537Lys) rs1410172198 0.00001
NM_006245.4(PPP2R5D):c.394G>A (p.Val132Met) rs1437337804 0.00001
NM_006267.5(RANBP2):c.754G>A (p.Val252Met) rs1396959311 0.00001
NM_006268.5(DPF2):c.900C>T (p.Arg300=) rs775695232 0.00001
NM_006311.4(NCOR1):c.3761T>C (p.Ile1254Thr) rs369440540 0.00001
NM_006506.5(RASA2):c.1789T>C (p.Ser597Pro) rs1239811236 0.00001
NM_006506.5(RASA2):c.345T>A (p.Asp115Glu) rs956728389 0.00001
NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp) rs267607061 0.00001
NM_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala) rs767130314 0.00001
NM_006734.4(HIVEP2):c.1643C>T (p.Thr548Ile) rs760177241 0.00001
NM_006734.4(HIVEP2):c.2963C>T (p.Thr988Ile) rs1456774761 0.00001
NM_006734.4(HIVEP2):c.4024G>A (p.Val1342Ile) rs760320989 0.00001
NM_006734.4(HIVEP2):c.446G>A (p.Gly149Asp) rs1403489512 0.00001
NM_006734.4(HIVEP2):c.5150A>T (p.Lys1717Met) rs1775466922 0.00001
NM_006734.4(HIVEP2):c.5456G>A (p.Arg1819His) rs1346207059 0.00001
NM_006734.4(HIVEP2):c.6245T>C (p.Leu2082Pro) rs753359071 0.00001
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys) rs745933378 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006772.3(SYNGAP1):c.514C>T (p.Arg172Trp) rs142649710 0.00001
NM_006785.4(MALT1):c.1898C>T (p.Thr633Ile) rs776118428 0.00001
NM_006785.4(MALT1):c.2290C>T (p.His764Tyr) rs574490390 0.00001
NM_006846.4(SPINK5):c.1415T>C (p.Met472Thr) rs762735202 0.00001
NM_006852.6(TLK2):c.1369-8C>T rs1413660720 0.00001
NM_006852.6(TLK2):c.1648A>T (p.Met550Leu) rs754747576 0.00001
NM_006912.6(RIT1):c.163+6C>A rs1157450415 0.00001
NM_006922.4(SCN3A):c.4640C>T (p.Thr1547Met) rs762536754 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.2290A>G (p.Ser764Gly) rs779464455 0.00001
NM_006939.4(SOS2):c.2843A>G (p.Lys948Arg) rs758960743 0.00001
NM_006940.6(SOX5):c.1343-4733C>T rs1947477250 0.00001
NM_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys) rs145702618 0.00001
NM_007078.3(LDB3):c.1231+949C>T rs745758721 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_007118.4(TRIO):c.53C>G (p.Ala18Gly) rs1429556466 0.00001
NM_007118.4(TRIO):c.7250G>A (p.Ser2417Asn) rs927883781 0.00001
NM_007118.4(TRIO):c.8686C>A (p.Leu2896Met) rs1422150009 0.00001
NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp) rs1384327533 0.00001
NM_007198.4(PLPBP):c.793G>A (p.Val265Met) rs1442084545 0.00001
NM_007198.4(PLPBP):c.86C>T (p.Ala29Val) rs1021675702 0.00001
NM_007215.4(POLG2):c.1031G>A (p.Arg344Gln) rs994126357 0.00001
NM_007247.6(SYNRG):c.635C>T (p.Thr212Ile) rs1278680821 0.00001
NM_007254.4(PNKP):c.1282G>A (p.Ala428Thr) rs1568659088 0.00001
NM_007254.4(PNKP):c.1389T>G (p.Phe463Leu) rs763116781 0.00001
NM_007254.4(PNKP):c.1537C>T (p.Arg513Trp) rs112217838 0.00001
NM_007254.4(PNKP):c.1558G>C (p.Glu520Gln) rs770823063 0.00001
NM_007294.4(BRCA1):c.5136G>A (p.Trp1712Ter) rs80357418 0.00001
NM_007363.5(NONO):c.107C>T (p.Pro36Leu) rs750695677 0.00001
NM_007373.4(SHOC2):c.733G>A (p.Val245Ile) rs761636280 0.00001
NM_012079.6(DGAT1):c.610C>T (p.Leu204Phe) rs782559118 0.00001
NM_012210.4(TRIM32):c.464G>A (p.Arg155His) rs777914761 0.00001
NM_012309.5(SHANK2):c.2668C>G (p.Pro890Ala) rs782309898 0.00001
NM_012309.5(SHANK2):c.844G>A (p.Glu282Lys) rs548275131 0.00001
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015 0.00001
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro) rs587779410 0.00001
NM_012463.4(ATP6V0A2):c.2032C>T (p.Arg678Cys) rs148307049 0.00001
NM_013275.6(ANKRD11):c.-145+4A>T rs895163510 0.00001
NM_013275.6(ANKRD11):c.1286C>T (p.Ser429Leu) rs370109948 0.00001
NM_013275.6(ANKRD11):c.4217A>T (p.Tyr1406Phe) rs943784682 0.00001
NM_013275.6(ANKRD11):c.4471G>A (p.Glu1491Lys) rs1296165234 0.00001
NM_013275.6(ANKRD11):c.6226C>T (p.Pro2076Ser) rs1314385190 0.00001
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) rs190285831 0.00001
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) rs368817785 0.00001
NM_013436.5(NCKAP1):c.2065A>G (p.Ile689Val) rs771473358 0.00001
NM_013450.4(BAZ2B):c.2563C>T (p.Arg855Ter) rs2066971566 0.00001
NM_013450.4(BAZ2B):c.687C>G (p.Ile229Met) rs1464464005 0.00001
NM_014000.3(VCL):c.1360G>A (p.Gly454Arg) rs2549225257 0.00001
NM_014009.4(FOXP3):c.200C>T (p.Ser67Leu) rs1382549860 0.00001
NM_014023.4(WDR37):c.808A>G (p.Ile270Val) rs758141830 0.00001
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs) rs1391540245 0.00001
NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) rs751491210 0.00001
NM_014159.7(SETD2):c.1256A>G (p.Tyr419Cys) rs546591954 0.00001
NM_014159.7(SETD2):c.1343G>A (p.Arg448Gln) rs564020755 0.00001
NM_014159.7(SETD2):c.1496C>T (p.Thr499Ile) rs2043173937 0.00001
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser) rs372521251 0.00001
NM_014159.7(SETD2):c.2070A>C (p.Lys690Asn) rs2043143024 0.00001
NM_014159.7(SETD2):c.2188A>G (p.Lys730Glu) rs759927194 0.00001
NM_014159.7(SETD2):c.2320G>C (p.Val774Leu) rs2043131227 0.00001
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile) rs2041416610 0.00001
NM_014159.7(SETD2):c.638C>G (p.Ala213Gly) rs1292986984 0.00001
NM_014159.7(SETD2):c.6917A>G (p.Tyr2306Cys) rs773305513 0.00001
NM_014159.7(SETD2):c.827A>G (p.Asp276Gly) rs1456190392 0.00001
NM_014208.3(DSPP):c.1661G>A (p.Ser554Asn) rs1727806052 0.00001
NM_014339.7(IL17RA):c.2188A>G (p.Ser730Gly) rs1372676490 0.00001
NM_014361.4(CNTN5):c.714T>G (p.Phe238Leu) rs751415649 0.00001
NM_014391.3(ANKRD1):c.131A>G (p.Asp44Gly) rs749040843 0.00001
NM_014423.4(AFF4):c.1318T>A (p.Ser440Thr) rs1172881579 0.00001
NM_014423.4(AFF4):c.1589G>T (p.Gly530Val) rs1411633307 0.00001
NM_014423.4(AFF4):c.2015A>G (p.Asn672Ser) rs959176441 0.00001
NM_014681.6(DHX34):c.2197G>A (p.Gly733Arg) rs1970118036 0.00001
NM_014681.6(DHX34):c.2918C>T (p.Thr973Met) rs769405184 0.00001
NM_014681.6(DHX34):c.299dup (p.Tyr100Ter) rs752572883 0.00001
NM_014712.3(SETD1A):c.1949C>T (p.Pro650Leu) rs1051816095 0.00001
NM_014712.3(SETD1A):c.3673G>T (p.Val1225Leu) rs1454213113 0.00001
NM_014712.3(SETD1A):c.3689G>A (p.Arg1230Gln) rs746685333 0.00001
NM_014712.3(SETD1A):c.667G>C (p.Asp223His) rs550270592 0.00001
NM_014712.3(SETD1A):c.773C>T (p.Ser258Phe) rs1170883733 0.00001
NM_014727.3(KMT2B):c.3190C>A (p.Pro1064Thr) rs1350666277 0.00001
NM_014727.3(KMT2B):c.3206C>G (p.Ser1069Cys) rs748861506 0.00001
NM_014727.3(KMT2B):c.4460G>A (p.Arg1487His) rs753899619 0.00001
NM_014727.3(KMT2B):c.5621G>A (p.Arg1874Gln) rs1036243378 0.00001
NM_014845.6(FIG4):c.827C>T (p.Ser276Phe) rs1311885951 0.00001
NM_014862.4(ARNT2):c.1589C>A (p.Ser530Tyr) rs771365661 0.00001
NM_014927.5(CNKSR2):c.1219G>A (p.Glu407Lys) rs2091890198 0.00001
NM_014975.3(MAST1):c.3506C>T (p.Ser1169Leu) rs564599262 0.00001
NM_014991.6(WDFY3):c.3034G>C (p.Ala1012Pro) rs774714343 0.00001
NM_014991.6(WDFY3):c.7684T>G (p.Phe2562Val) rs1560592333 0.00001
NM_014991.6(WDFY3):c.853G>A (p.Gly285Arg) rs1755285173 0.00001
NM_014991.6(WDFY3):c.9754C>T (p.Pro3252Ser) rs912833658 0.00001
NM_015021.3(ZNF292):c.1190A>G (p.Glu397Gly) rs760272408 0.00001
NM_015028.4(TNIK):c.2737A>C (p.Lys913Gln) rs1340420482 0.00001
NM_015044.4(GGA2):c.298G>A (p.Glu100Lys) rs2142133125 0.00001
NM_015047.3(EMC1):c.464A>T (p.His155Leu) rs752316981 0.00001
NM_015080.4(NRXN2):c.3406G>A (p.Gly1136Arg) rs373059426 0.00001
NM_015080.4(NRXN2):c.3410C>T (p.Thr1137Ile) rs150390440 0.00001
NM_015080.4(NRXN2):c.4440G>T (p.Glu1480Asp) rs1482455110 0.00001
NM_015100.4(POGZ):c.163A>G (p.Ile55Val) rs768095572 0.00001
NM_015100.4(POGZ):c.2275G>A (p.Glu759Lys) rs749648996 0.00001
NM_015100.4(POGZ):c.3848A>G (p.Gln1283Arg) rs765820329 0.00001
NM_015178.3(RHOBTB2):c.1621G>A (p.Val541Met) rs1328047091 0.00001
NM_015178.3(RHOBTB2):c.2038C>T (p.Arg680Trp) rs767630251 0.00001
NM_015215.4(CAMTA1):c.2003C>A (p.Ser668Tyr) rs2095986041 0.00001
NM_015215.4(CAMTA1):c.5009G>A (p.Gly1670Asp) rs377682208 0.00001
NM_015267.4(CUX2):c.1267C>G (p.Pro423Ala) rs1381221552 0.00001
NM_015267.4(CUX2):c.1603C>T (p.Pro535Ser) rs1365473132 0.00001
NM_015267.4(CUX2):c.1922G>A (p.Arg641His) rs371998616 0.00001
NM_015272.5(RPGRIP1L):c.3116A>G (p.Gln1039Arg) rs181022346 0.00001
NM_015330.6(SPECC1L):c.2486G>A (p.Arg829Lys) rs2041009697 0.00001
NM_015330.6(SPECC1L):c.539C>G (p.Ala180Gly) rs529314817 0.00001
NM_015335.5(MED13L):c.1609A>G (p.Ser537Gly) rs1332032276 0.00001
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg) rs781324695 0.00001
NM_015335.5(MED13L):c.5294A>G (p.Gln1765Arg) rs369933421 0.00001
NM_015443.4(KANSL1):c.3019C>T (p.Arg1007Trp) rs1057522661 0.00001
NM_015512.5(DNAH1):c.245del (p.Leu82fs) rs1701192142 0.00001
NM_015559.3(SETBP1):c.165G>A (p.Met55Ile) rs778818507 0.00001
NM_015559.3(SETBP1):c.2741G>A (p.Arg914Gln) rs777653524 0.00001
NM_015570.4(AUTS2):c.1673C>T (p.Thr558Met) rs552275264 0.00001
NM_015570.4(AUTS2):c.1852G>A (p.Ala618Thr) rs1203289728 0.00001
NM_015599.3(PGM3):c.1126A>C (p.Thr376Pro) rs1562417226 0.00001
NM_015599.3(PGM3):c.1513C>T (p.Arg505Ter) rs1786845541 0.00001
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val) rs760562906 0.00001
NM_015662.3(IFT172):c.4908T>G (p.His1636Gln) rs201840472 0.00001
NM_015874.6(RBPJ):c.50G>A (p.Arg17Gln) rs369569682 0.00001
NM_015910.7(WDPCP):c.1687A>G (p.Ile563Val) rs1168632851 0.00001
NM_016146.6(TRAPPC4):c.176-3C>T rs1193834176 0.00001
NM_016219.5(MAN1B1):c.1216C>T (p.Arg406Trp) rs1037141680 0.00001
NM_016529.6(ATP8A2):c.1976G>A (p.Arg659Gln) rs566960742 0.00001
NM_017433.5(MYO3A):c.4081A>G (p.Lys1361Glu) rs1380105932 0.00001
NM_017553.3(INO80):c.4018G>C (p.Ala1340Pro) rs1893939420 0.00001
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter) rs993687029 0.00001
NM_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg) rs761427888 0.00001
NM_017721.5(CC2D1A):c.1584G>C (p.Lys528Asn) rs1180111779 0.00001
NM_017721.5(CC2D1A):c.2071G>A (p.Val691Met) rs780097665 0.00001
NM_017757.3(ZNF407):c.1282C>T (p.Arg428Cys) rs771815117 0.00001
NM_017757.3(ZNF407):c.4709A>C (p.Lys1570Thr) rs367575524 0.00001
NM_017777.4(MKS1):c.1163C>A (p.Ser388Tyr) rs1401192823 0.00001
NM_017777.4(MKS1):c.791C>T (p.Thr264Met) rs561482424 0.00001
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala) rs764518030 0.00001
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=) rs1805737676 0.00001
NM_017831.4(RNF125):c.40C>T (p.Pro14Ser) rs757185603 0.00001
NM_017934.7(PHIP):c.1525-8T>C rs1034530458 0.00001
NM_017934.7(PHIP):c.842G>A (p.Gly281Asp) rs372699478 0.00001
NM_018013.4(SOBP):c.2163C>A (p.Asn721Lys) rs1770953615 0.00001
NM_018023.5(YEATS2):c.1671G>C (p.Leu557Phe) rs754796241 0.00001
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009 0.00001
NM_018026.4(PACS1):c.65G>A (p.Gly22Glu) rs1857288713 0.00001
NM_018105.3(THAP1):c.547G>T (p.Val183Phe) rs370082539 0.00001
NM_018263.6(ASXL2):c.2543A>G (p.His848Arg) rs1392187299 0.00001
NM_018426.3(TMEM63B):c.2431G>A (p.Asp811Asn) rs777507781 0.00001
NM_018489.3(ASH1L):c.2654C>A (p.Pro885His) rs868289176 0.00001
NM_018489.3(ASH1L):c.3170C>G (p.Thr1057Ser) rs1665818268 0.00001
NM_018489.3(ASH1L):c.4839C>G (p.Ser1613Arg) rs1665688637 0.00001
NM_018489.3(ASH1L):c.8487G>T (p.Lys2829Asn) rs749444214 0.00001
NM_018896.5(CACNA1G):c.3065-5T>A rs756390450 0.00001
NM_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro) rs1312607495 0.00001
NM_019023.5(PRMT7):c.542A>G (p.Tyr181Cys) rs751566875 0.00001
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_019066.5(MAGEL2):c.2343G>T (p.Glu781Asp) rs772413215 0.00001
NM_019066.5(MAGEL2):c.2363G>T (p.Ser788Ile) rs984557516 0.00001
NM_019066.5(MAGEL2):c.2498C>A (p.Ala833Glu) rs374790538 0.00001
NM_019066.5(MAGEL2):c.2587C>A (p.Gln863Lys) rs774484445 0.00001
NM_019066.5(MAGEL2):c.3559C>T (p.Arg1187Ter) rs368965952 0.00001
NM_019842.4(KCNQ5):c.2366A>T (p.Glu789Val) rs771383058 0.00001
NM_020158.4(EXOSC5):c.24C>G (p.Asp8Glu) rs547685483 0.00001
NM_020232.5(PSMG2):c.582-1G>A rs763788988 0.00001
NM_020320.5(RARS2):c.1312A>T (p.Lys438Ter) rs1419422047 0.00001
NM_020320.5(RARS2):c.901C>T (p.Leu301Phe) rs771274749 0.00001
NM_020338.4(ZMIZ1):c.1556C>T (p.Pro519Leu) rs775764570 0.00001
NM_020338.4(ZMIZ1):c.2587G>A (p.Ala863Thr) rs1332317806 0.00001
NM_020338.4(ZMIZ1):c.314G>A (p.Arg105His) rs1414360518 0.00001
NM_020433.5(JPH2):c.655G>T (p.Gly219Cys) rs1251565277 0.00001
NM_020719.3(PRR12):c.1450A>C (p.Ser484Arg) rs1377401954 0.00001
NM_020719.3(PRR12):c.2057C>T (p.Thr686Ile) rs1056726894 0.00001
NM_020719.3(PRR12):c.2590C>G (p.Pro864Ala) rs1034624128 0.00001
NM_020719.3(PRR12):c.5894C>T (p.Ser1965Leu) rs745807179 0.00001
NM_020738.4(KIDINS220):c.1022A>G (p.Lys341Arg) rs770697966 0.00001
NM_020738.4(KIDINS220):c.1462G>A (p.Gly488Arg) rs770692330 0.00001
NM_020738.4(KIDINS220):c.3955T>C (p.Ser1319Pro) rs1310173085 0.00001
NM_020738.4(KIDINS220):c.4889A>G (p.His1630Arg) rs569904858 0.00001
NM_020765.3(UBR4):c.14998G>A (p.Val5000Ile) rs773449549 0.00001
NM_020765.3(UBR4):c.4045C>G (p.Arg1349Gly) rs776593168 0.00001
NM_020765.3(UBR4):c.4409G>A (p.Arg1470His) rs369985401 0.00001
NM_020822.3(KCNT1):c.1346A>G (p.Asn449Ser) rs1336529060 0.00001
NM_020822.3(KCNT1):c.3353G>A (p.Arg1118His) rs1055618053 0.00001
NM_020822.3(KCNT1):c.3371C>T (p.Ala1124Val) rs1381344367 0.00001
NM_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala) rs549276113 0.00001
NM_020843.4(SCAPER):c.3065T>C (p.Ile1022Thr) rs780523439 0.00001
NM_020928.2(ZSWIM6):c.2557G>A (p.Glu853Lys) rs748121822 0.00001
NM_020962.3(IGDCC4):c.2306G>A (p.Arg769Gln) rs753949820 0.00001
NM_020964.3(EPG5):c.3397G>C (p.Val1133Leu) rs1196176370 0.00001
NM_020971.3(SPTBN4):c.5690G>T (p.Gly1897Val) rs749766994 0.00001
NM_020971.3(SPTBN4):c.758G>C (p.Gly253Ala) rs1568776196 0.00001
NM_020987.5(ANK3):c.12229A>C (p.Ser4077Arg) rs778664446 0.00001
NM_020987.5(ANK3):c.1491+4T>C rs765680287 0.00001
NM_020987.5(ANK3):c.1657G>A (p.Asp553Asn) rs753197813 0.00001
NM_020987.5(ANK3):c.1939G>A (p.Ala647Thr) rs761904426 0.00001
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala) rs375050420 0.00001
NM_020987.5(ANK3):c.9252G>T (p.Glu3084Asp) rs759850374 0.00001
NM_021008.4(DEAF1):c.1051C>T (p.Arg351Ter) rs753168686 0.00001
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser) rs760258010 0.00001
NM_021098.3(CACNA1H):c.1585T>C (p.Tyr529His) rs1230959391 0.00001
NM_021098.3(CACNA1H):c.2743G>A (p.Val915Met) rs762600701 0.00001
NM_021098.3(CACNA1H):c.4789C>T (p.Arg1597Trp) rs747598216 0.00001
NM_021098.3(CACNA1H):c.5917G>A (p.Ala1973Thr) rs1003957584 0.00001
NM_021224.6(ZNF462):c.4241A>T (p.Glu1414Val) rs779040674 0.00001
NM_021614.4(KCNN2):c.1235A>G (p.Asn412Ser) rs139630306 0.00001
NM_021969.3(NR0B2):c.749T>C (p.Leu250Pro) rs1258917303 0.00001
NM_022114.4(PRDM16):c.2940-845G>A rs1398831276 0.00001
NM_022168.4(IFIH1):c.2321T>A (p.Val774Asp) rs1246892209 0.00001
NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr) rs779109455 0.00001
NM_022437.3(ABCG8):c.1481T>C (p.Phe494Ser) rs1669891030 0.00001
NM_022437.3(ABCG8):c.1943T>C (p.Ile648Thr) rs1319856628 0.00001
NM_022437.3(ABCG8):c.647G>A (p.Gly216Asp) rs775262569 0.00001
NM_022437.3(ABCG8):c.818G>A (p.Arg273His) rs775468682 0.00001
NM_022454.4(SOX17):c.366G>C (p.Glu122Asp) rs1483358490 0.00001
NM_022455.5(NSD1):c.1579G>A (p.Gly527Arg) rs1488271424 0.00001
NM_022455.5(NSD1):c.2363G>A (p.Arg788Gln) rs751258086 0.00001
NM_022552.5(DNMT3A):c.113G>A (p.Arg38His) rs369618387 0.00001
NM_022552.5(DNMT3A):c.1345G>A (p.Ala449Thr) rs745406398 0.00001
NM_022773.4(LMF1):c.479C>T (p.Ser160Phe) rs956451977 0.00001
NM_024072.4(DDX54):c.2537G>T (p.Gly846Val) rs1050695140 0.00001
NM_024298.5(MBOAT7):c.763G>A (p.Gly255Ser) rs761791932 0.00001
NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu) rs759704045 0.00001
NM_024496.4(IRF2BPL):c.136C>G (p.Arg46Gly) rs138309548 0.00001
NM_024496.4(IRF2BPL):c.1553C>T (p.Pro518Leu) rs1038195917 0.00001
NM_024589.3(ROGDI):c.755C>G (p.Pro252Arg) rs1276539581 0.00001
NM_024649.5(BBS1):c.1339+163G>A rs1266533059 0.00001
NM_024665.7(TBL1XR1):c.441T>G (p.Asp147Glu) rs1197826368 0.00001
NM_024665.7(TBL1XR1):c.444G>A (p.Met148Ile) rs1339329131 0.00001
NM_024665.7(TBL1XR1):c.997G>A (p.Val333Ile) rs1458872045 0.00001
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter) rs180177091 0.00001
NM_024740.2(ALG9):c.535C>T (p.Leu179Phe) rs782147690 0.00001
NM_024757.5(EHMT1):c.2420G>A (p.Arg807Lys) rs1064796750 0.00001
NM_024757.5(EHMT1):c.592G>C (p.Val198Leu) rs761554206 0.00001
NM_024795.4(TM4SF20):c.271A>G (p.Ser91Gly) rs1422064104 0.00001
NM_025099.6(CTC1):c.2996C>A (p.Pro999His) rs780572571 0.00001
NM_025114.4(CEP290):c.2068A>C (p.Asn690His) rs398124411 0.00001
NM_025114.4(CEP290):c.2551G>A (p.Val851Ile) rs764963626 0.00001
NM_025114.4(CEP290):c.79A>G (p.Asn27Asp) rs753760503 0.00001
NM_025179.4(PLXNA2):c.2880C>A (p.Asn960Lys) rs1558166566 0.00001
NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys) rs907386068 0.00001
NM_025243.4(SLC19A3):c.242C>T (p.Pro81Leu) rs752029795 0.00001
NM_030632.3(ASXL3):c.1898A>T (p.Gln633Leu) rs373530168 0.00001
NM_030632.3(ASXL3):c.4439C>T (p.Thr1480Met) rs747561057 0.00001
NM_030632.3(ASXL3):c.4465G>C (p.Val1489Leu) rs576992025 0.00001
NM_030665.4(RAI1):c.226G>A (p.Asp76Asn) rs936181213 0.00001
NM_030665.4(RAI1):c.4114G>A (p.Gly1372Arg) rs149839441 0.00001
NM_030665.4(RAI1):c.4963G>A (p.Gly1655Ser) rs794727522 0.00001
NM_030665.4(RAI1):c.514C>T (p.His172Tyr) rs143161740 0.00001
NM_030665.4(RAI1):c.5225G>T (p.Gly1742Val) rs558768145 0.00001
NM_030805.4(LMAN2L):c.187+4A>C rs2078596924 0.00001
NM_030805.4(LMAN2L):c.785-273A>G rs1469575298 0.00001
NM_030948.6(PHACTR1):c.163A>G (p.Ile55Val) rs928863874 0.00001
NM_031844.3(HNRNPU):c.1189G>A (p.Gly397Arg) rs1680748404 0.00001
NM_031844.3(HNRNPU):c.2248G>A (p.Gly750Ser) rs1360721056 0.00001
NM_032119.4(ADGRV1):c.259A>G (p.Ile87Val) rs1763564700 0.00001
NM_032119.4(ADGRV1):c.323C>G (p.Pro108Arg) rs1158908533 0.00001
NM_032242.4(PLXNA1):c.2076C>G (p.Asp692Glu) rs756985363 0.00001
NM_032242.4(PLXNA1):c.3166G>A (p.Glu1056Lys) rs773254680 0.00001
NM_032242.4(PLXNA1):c.433G>A (p.Asp145Asn) rs2078975765 0.00001
NM_032271.3(TRAF7):c.1014C>T (p.Asp338=) rs201641425 0.00001
NM_032382.5(COG8):c.1319A>G (p.Asn440Ser) rs763537807 0.00001
NM_032444.4(SLX4):c.4096C>T (p.Arg1366Cys) rs368434737 0.00001
NM_032531.4(KIRREL3):c.1565A>T (p.Lys522Met) rs1030171026 0.00001
NM_032608.7(MYO18B):c.7157G>T (p.Cys2386Phe) rs754267663 0.00001
NM_032634.4(PIGO):c.1256C>T (p.Ala419Val) rs777439274 0.00001
NM_032656.4(DHX37):c.769G>A (p.Glu257Lys) rs1487616252 0.00001
NM_032776.3(JMJD1C):c.2240C>T (p.Thr747Ile) rs1157995731 0.00001
NM_032776.3(JMJD1C):c.2531T>A (p.Leu844His) rs760376249 0.00001
NM_032776.3(JMJD1C):c.5366A>C (p.His1789Pro) rs974108053 0.00001
NM_033026.6(PCLO):c.5222G>C (p.Ser1741Thr) rs544116999 0.00001
NM_052867.4(NALCN):c.3022C>T (p.Arg1008Ter) rs766421214 0.00001
NM_052867.4(NALCN):c.3587A>C (p.Asn1196Thr) rs781040583 0.00001
NM_052867.4(NALCN):c.4892G>A (p.Ser1631Asn) rs920545999 0.00001
NM_052867.4(NALCN):c.5138G>A (p.Gly1713Asp) rs2031085413 0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_057175.5(NAA15):c.2345G>A (p.Arg782Gln) rs776135982 0.00001
NM_078480.3(PUF60):c.239A>G (p.Lys80Arg) rs1411433335 0.00001
NM_078629.4(MSL3):c.1055C>T (p.Thr352Met) rs749183286 0.00001
NM_130797.4(DPP6):c.1391C>T (p.Thr464Met) rs1054264418 0.00001
NM_130811.4(SNAP25):c.256G>A (p.Gly86Arg) rs763054916 0.00001
NM_133433.4(NIPBL):c.-79-11559C>T rs1436464402 0.00001
NM_133433.4(NIPBL):c.6577A>G (p.Ile2193Val) rs1368217611 0.00001
NM_134261.3(RORA):c.167-186181C>T rs1400541871 0.00001
NM_134261.3(RORA):c.591C>G (p.His197Gln) rs750296474 0.00001
NM_138459.5(NUS1):c.16G>C (p.Glu6Gln) rs1374617888 0.00001
NM_138711.6(PPARG):c.362A>G (p.Tyr121Cys) rs1354592503 0.00001
NM_138713.4(NFAT5):c.1499T>C (p.Val500Ala) rs747215016 0.00001
NM_138927.4(SON):c.4179G>T (p.Glu1393Asp) rs769227177 0.00001
NM_138927.4(SON):c.961A>C (p.Ser321Arg) rs752432317 0.00001
NM_144596.4(TTC8):c.1420A>G (p.Ile474Val) rs1244721977 0.00001
NM_144596.4(TTC8):c.798+256T>C rs2094862427 0.00001
NM_144666.3(DNHD1):c.10004A>G (p.His3335Arg) rs886468000 0.00001
NM_144992.5(VWA3B):c.2243A>G (p.Asn748Ser) rs1037456370 0.00001
NM_145207.3(AFG2A):c.1649T>G (p.Leu550Arg) rs779320647 0.00001
NM_145691.4(ATPAF2):c.785T>C (p.Leu262Pro) rs746446116 0.00001
NM_152296.5(ATP1A3):c.1906G>A (p.Ala636Thr) rs782744167 0.00001
NM_152309.3(PIK3AP1):c.283C>T (p.Pro95Ser) rs1480899711 0.00001
NM_152564.5(VPS13B):c.11180G>A (p.Arg3727Gln) rs913075497 0.00001
NM_152564.5(VPS13B):c.11205C>G (p.Ile3735Met) rs1359351082 0.00001
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter) rs180177356 0.00001
NM_152564.5(VPS13B):c.2180A>G (p.His727Arg) rs1436936380 0.00001
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp) rs780598553 0.00001
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys) rs756143690 0.00001
NM_152564.5(VPS13B):c.7941+6T>C rs1250134243 0.00001
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg) rs781004616 0.00001
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val) rs746414913 0.00001
NM_152594.3(SPRED1):c.32A>T (p.Asp11Val) rs1452661347 0.00001
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg) rs775693385 0.00001
NM_152618.3(BBS12):c.241T>C (p.Tyr81His) rs768973035 0.00001
NM_152906.7(TANGO2):c.256C>T (p.Arg86Ter) rs1162037663 0.00001
NM_153026.3(PRICKLE1):c.1012A>G (p.Lys338Glu) rs1328763941 0.00001
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr) rs1265886356 0.00001
NM_170606.3(KMT2C):c.10207C>T (p.Arg3403Cys) rs201762858 0.00001
NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe) rs762380795 0.00001
NM_170606.3(KMT2C):c.13354C>A (p.Leu4452Ile) rs1259070282 0.00001
NM_170606.3(KMT2C):c.2074G>A (p.Val692Ile) rs2095510300 0.00001
NM_170606.3(KMT2C):c.508A>G (p.Lys170Glu) rs200182945 0.00001
NM_170606.3(KMT2C):c.7841G>T (p.Gly2614Val) rs767634921 0.00001
NM_170606.3(KMT2C):c.9989C>G (p.Pro3330Arg) rs545625106 0.00001
NM_170707.4(LMNA):c.1751G>A (p.Arg584His) rs56657623 0.00001
NM_170707.4(LMNA):c.1871G>A (p.Arg624His) rs13768 0.00001
NM_170707.4(LMNA):c.1919A>G (p.Asn640Ser) rs752598065 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_171998.4(RAB39B):c.386C>T (p.Thr129Ile) rs1557314226 0.00001
NM_172107.4(KCNQ2):c.1024-5C>T rs762121418 0.00001
NM_172107.4(KCNQ2):c.104C>G (p.Thr35Ser) rs984632499 0.00001
NM_172107.4(KCNQ2):c.7C>G (p.Gln3Glu) rs868642147 0.00001
NM_172362.3(KCNH1):c.2054C>T (p.Thr685Met) rs1349830428 0.00001
NM_172362.3(KCNH1):c.2482G>A (p.Gly828Arg) rs752232888 0.00001
NM_173354.5(SIK1):c.1219T>C (p.Cys407Arg) rs746408860 0.00001
NM_173602.3(DIP2B):c.3908A>G (p.Lys1303Arg) rs1477664803 0.00001
NM_175607.3(CNTN4):c.-88-87028G>A rs1254855756 0.00001
NM_175914.5(HNF4A):c.50-4589G>A rs1170574009 0.00001
NM_176824.3(BBS7):c.1940A>G (p.His647Arg) rs1725000311 0.00001
NM_176824.3(BBS7):c.76G>A (p.Ala26Thr) rs766450289 0.00001
NM_177972.3(TUB):c.722A>G (p.Glu241Gly) rs910286343 0.00001
NM_180990.4(ZACN):c.1021G>A (p.Gly341Ser) rs758573179 0.00001
NM_181458.4(PAX3):c.683C>T (p.Ala228Val) rs775433032 0.00001
NM_181523.3(PIK3R1):c.917-4792G>A rs1747126586 0.00001
NM_181552.4(CUX1):c.4345G>A (p.Ala1449Thr) rs1161799259 0.00001
NM_182641.4(BPTF):c.3148A>G (p.Ser1050Gly) rs748555106 0.00001
NM_182641.4(BPTF):c.543C>G (p.Asp181Glu) rs758332344 0.00001
NM_182710.3(KAT5):c.690+7C>T rs780717977 0.00001
NM_182925.5(FLT4):c.1104-255C>T rs1763630189 0.00001
NM_182931.3(KMT2E):c.2530A>G (p.Arg844Gly) rs376005597 0.00001
NM_182931.3(KMT2E):c.3729T>A (p.Ser1243Arg) rs1799060392 0.00001
NM_182931.3(KMT2E):c.4778C>T (p.Thr1593Ile) rs111828689 0.00001
NM_182961.4(SYNE1):c.25015G>T (p.Gly8339Cys) rs747768163 0.00001
NM_183381.3(RNF13):c.1045A>G (p.Thr349Ala) rs972002974 0.00001
NM_183381.3(RNF13):c.613A>G (p.Lys205Glu) rs771241791 0.00001
NM_194454.3(KRIT1):c.386G>A (p.Cys129Tyr) rs764760437 0.00001
NM_198253.3(TERT):c.2655-47_2659dup rs1561193114 0.00001
NM_198428.3(BBS9):c.886+7A>G rs781169371 0.00001
NM_198503.5(KCNT2):c.2674A>G (p.Met892Val) rs1219046745 0.00001
NM_198859.4(PRICKLE2):c.1706G>A (p.Arg569Gln) rs2076627525 0.00001
NM_198859.4(PRICKLE2):c.2246C>T (p.Pro749Leu) rs762399074 0.00001
NM_201525.4(ADGRG1):c.1490T>C (p.Leu497Pro) rs587783654 0.00001
NM_203447.4(DOCK8):c.6260G>A (p.Ser2087Asn) rs2057902138 0.00001
NM_205861.3(DHDDS):c.181-16C>A rs1462542158 0.00001
NM_205861.3(DHDDS):c.817G>T (p.Asp273Tyr) rs182263884 0.00001
G6PD A-
GRCh37/hg19 17p13.3(chr17:1-450099)
GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)
GRCh38/hg38 10p15.1(chr10:5159926-5165558)
GRCh38/hg38 10q11.22-11.23(chr10:45795500-50134000)
GRCh38/hg38 12p12.3(chr12:15466904-15470698)
GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)
GRCh38/hg38 12q24.11(chr12:110494492-110512439)
GRCh38/hg38 15q11.2(chr15:22583760-23123885)
GRCh38/hg38 15q11.2(chr15:22600363-23120182)
GRCh38/hg38 15q11.2(chr15:22776147-23076393)
GRCh38/hg38 15q21.2(chr15:52095744-52533191)
GRCh38/hg38 16p11.2(chr16:31113127-31122901)
GRCh38/hg38 16p13.12-12.3(chr16:15034129-16187150)
GRCh38/hg38 16p13.12-13.11(chr16:15032610-16203929)
GRCh38/hg38 16q23.2-23.3(chr16:79568000-83552000)
GRCh38/hg38 17p12(chr17:12453983-12791857)
GRCh38/hg38 1p36.12(chr1:21999190-22063093)
GRCh38/hg38 1p36.33(chr1:1482000-1519400)
GRCh38/hg38 1q21.1-21.2(chr1:146872717-148353641)
GRCh38/hg38 20p12.3(chr20:6773385-6822115)
GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467)
GRCh38/hg38 5q14.3(chr5:86235182-91734581)
GRCh38/hg38 8q23.1(chr8:105628485-105634938)
GRCh38/hg38 Xp22.2(chrX:15913412-16533949)
GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)
GRCh38/hg38 Xq28(chrX:154895862-155336084)
NC_000001.10:g.4481271_20530242del
NC_000001.11:g.(1475764_1482998)_(1517413_1518921)del
NC_000001.11:g.15760305_15785410del
NC_000001.11:g.49194167_49272679del
NC_000001.11:g.6234122_6508845dup
NC_000002.11:g.58271895_58333429dup
NC_000002.12:g.2281453_2420148del
NC_000002.12:g.50371182_50397380del
NC_000002.12:g.50531675_50577825del
NC_000003.12:g.12589035_12766981dup
NC_000004.12:g.143428960_143495936dup
NC_000004.12:g.1_705161del
NC_000004.12:g.90299293_91204613del
NC_000005.10:g.90904210_91123767del
NC_000005.9:g.775423_1189139dup
NC_000006.11:g.116734559_123648104del
NC_000006.12:g.162158041_162743641dup
NC_000007.14:g.(75058300_?)_(?_79083658)del
NC_000007.14:g.11357596_11451599dup
NC_000007.14:g.152052676_152295696del
NC_000007.14:g.152175569_152524553dup
NC_000007.14:g.5986941_6669974dup
NC_000009.12:g.137661384_137714409del
NC_000009.12:g.73165555_73173279dup
NC_000010.11:g.133346605_133601248dup
NC_000010.11:g.45704708_(49974954_50015268)del
NC_000011.10:g.32963226_33107103dup
NC_000011.10:g.47339718_47339719delinsC rs727503192
NC_000012.12:g.104124548_104227635dup
NC_000012.12:g.123628460_123712468dup
NC_000012.12:g.879711_984377dup
NC_000012.12:g.9876748_9972593del
NC_000014.9:g.20013858_20436718dup
NC_000014.9:g.87925163_87956828del
NC_000015.10:g.22698177_(23120963_23380983)del
NC_000015.10:g.22723843_23122692dup
NC_000015.10:g.22804175_30375696dup
NC_000015.10:g.23370759_30529376del
NC_000015.10:g.28694170_30078717del
NC_000015.10:g.31722025_32224686dup
NC_000015.10:g.51681311_51791472dup
NC_000015.10:g.61919523_62253599dup
NC_000016.10:g.28812342_29035950dup
NC_000016.10:g.6905044_7356822del
NC_000016.10:g.77893032_78561479dup
NC_000017.11:g.10078000_10512000dup
NC_000017.11:g.44846894_44962103del
NC_000017.11:g.70166313_70176696dup
NC_000017.11:g.80392616_80422726del
NC_000020.11:g.49212886_49410642dup
NC_000020.11:g.63255263_63498365del
NC_000022.11:g.23774226_23859697dup
NC_000023.11:g.(154612552_154656872)_(156005236_156038495)del
NC_000023.11:g.11664613_12174602dup
NC_000023.11:g.136487348_136507517dup
NC_000023.11:g.29892903_29905635del
NC_000023.11:g.542940_985568dup
NC_000023.11:g.77957506_78280549dup
NC_012920.1(MT-CYB):m.14846G>A rs207459998
NC_012920.1(MT-ND1):m.1494C>T rs267606619
NC_012920.1(MT-ND1):m.1555A>G rs267606617
NC_012920.1(MT-ND3):m.10161A>T rs1556423771
NC_012920.1(MT-TI):m.4284G>A rs121434468
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro) rs782122122
NM_000039.3(APOA1):c.664G>A (p.Glu222Lys) rs121912717
NM_000040.3(APOC3):c.161A>G (p.Gln54Arg) rs2540278115
NM_000041.4(APOE):c.31A>G (p.Thr11Ala) rs144354013
NM_000041.4(APOE):c.460C>A (p.Arg154Ser) rs121918393
NM_000041.4(APOE):c.478C>T (p.Arg160Cys) rs387906567
NM_000052.7(ATP7A):c.4124-538A>G rs2149113261
NM_000057.4(BLM):c.772_773del (p.Leu258fs) rs367543013
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs) rs34575057
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4803dup (p.Lys1602Ter) rs2072513173
NM_000059.4(BRCA2):c.5142T>G (p.Tyr1714Ter) rs2072521352
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.4(BRCA2):c.6486_6489del (p.Lys2162fs) rs80359598
NM_000071.3(CBS):c.752T>C (p.Leu251Pro) rs1176770868
NM_000080.4(CHRNE):c.1353dup (p.Asn452fs) rs773526895
NM_000088.4(COL1A1):c.1174G>A (p.Gly392Arg) rs2509227703
NM_000090.4(COL3A1):c.396del (p.Gly133fs) rs2469108377
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) rs1741002305
NM_000132.4(F8):c.6532C>T (p.Arg2178Cys) rs137852464
NM_000136.3(FANCC):c.686+5G>A rs1064794691
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.7840G>C (p.Ala2614Pro) rs1280320763
NM_000141.5(FGFR2):c.122A>G (p.Lys41Arg) rs2135124493
NM_000141.5(FGFR2):c.2194C>A (p.Leu732Met) rs2133793332
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.188C>T (p.Pro63Leu) rs371729802
NM_000143.4(FH):c.905G>A (p.Gly302Asp) rs1162334354
NM_000161.3(GCH1):c.745A>G (p.Arg249Gly) rs2039600745
NM_000162.5(GCK):c.278A>C (p.Glu93Ala) rs2484535641
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000165.5(GJA1):c.179G>C (p.Gly60Ala) rs2536821290
NM_000168.6(GLI3):c.2501C>T (p.Ser834Phe) rs375261329
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly) rs565817241
NM_000170.3(GLDC):c.861+5G>A rs192663616
NM_000171.4(GLRA1):c.896G>A (p.Arg299Gln) rs121918408
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000188.3(HK1):c.1119C>A (p.His373Gln) rs538951044
NM_000188.3(HK1):c.227-5115A>T rs2132733382
NM_000209.4(PDX1):c.107T>G (p.Leu36Arg) rs936861677
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter) rs2122607772
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu) rs1254052516
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
NM_000218.3(KCNQ1):c.1771C>A (p.Arg591Ser) rs199473483
NM_000218.3(KCNQ1):c.1812_*143del (p.Gln604_Ter677delinsXaa) rs2494325585
NM_000218.3(KCNQ1):c.1924T>C (p.Cys642Arg) rs1410404016
NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg) rs1589884451
NM_000218.3(KCNQ1):c.595T>G (p.Ser199Ala) rs199472701
NM_000229.2(LCAT):c.832C>T (p.Pro278Ser) rs1838131448
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser) rs2228159
NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln) rs372553692
NM_000236.3(LIPC):c.274-5C>T rs2548782220
NM_000236.3(LIPC):c.377C>A (p.Ala126Asp) rs768409840
NM_000238.4(KCNH2):c.2592+3G>A rs906562788
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys) rs199473434
NM_000238.4(KCNH2):c.2692+167_3153-109del
NM_000238.4(KCNH2):c.551GCGCGGGCG[3] (p.Gly189_Ala190insGlyAlaGly) rs551056698
NM_000240.4(MAOA):c.233dup (p.Leu78fs) rs2033551253
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser) rs1664588529
NM_000256.3(MYBPC3):c.1800delA rs397515926
NM_000256.3(MYBPC3):c.1927+600C>T rs1595845204
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs) rs2495746259
NM_000256.3(MYBPC3):c.3764C>G (p.Ala1255Gly) rs727504722
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1792A>G (p.Lys598Glu) rs1057518305
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000260.4(MYO7A):c.2905-1G>C rs1171417339
NM_000260.4(MYO7A):c.4222C>T (p.Arg1408Cys) rs377391891
NM_000260.4(MYO7A):c.689C>T (p.Ala230Val) rs797044512
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly) rs2143115890
NM_000264.5(PTCH1):c.2561-3T>C rs2136690024
NM_000268.4(NF2):c.1714A>G (p.Ser572Gly) rs1379683835
NM_000268.4(NF2):c.364-1121C>T rs1181058121
NM_000268.4(NF2):c.496_497delinsAC (p.Glu166Thr) rs2146967188
NM_000276.4(OCRL):c.19G>T (p.Val7Phe) rs1935772672
NM_000277.3(PAH):c.1024G>A (p.Ala342Thr) rs62507282
NM_000278.5(PAX2):c.794G>A (p.Gly265Glu) rs1847901674
NM_000284.4(PDHA1):c.523G>A (p.Ala175Thr) rs1569191372
NM_000308.4(CTSA):c.445-18_447del rs1987030082
NM_000310.4(PPT1):c.17G>C (p.Cys6Ser) rs202241486
NM_000313.4(PROS1):c.601+1G>A rs1708665916
NM_000314.8(PTEN):c.253+1G>T rs587776667
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter) rs1553607597
NM_000335.5(SCN5A):c.274-5C>G rs773669619
NM_000335.5(SCN5A):c.3166A>G (p.Thr1056Ala) rs1265143149
NM_000336.2:c.-7632_-9+6393del
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys) rs538778224
NM_000352.6(ABCC8):c.1012-7C>G rs1432242497
NM_000352.6(ABCC8):c.1332+3A>G rs1956629415
NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser) rs2496671097
NM_000352.6(ABCC8):c.2684A>T (p.His895Leu) rs768566884
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.421G>A (p.Val141Met) rs2496866140
NM_000352.6(ABCC8):c.4412-4T>G rs1476016104
NM_000358.3(TGFBI):c.1663C>T (p.Arg555Trp) rs121909208
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000376.3(VDR):c.1103G>T (p.Arg368Leu) rs376903517
NM_000381.4(MID1):c.1679A>G (p.Lys560Arg) rs1057520313
NM_000381.4(MID1):c.1913_1936inv (p.Cys638_Lys646delinsLeuPheHisThrValLysValGlyGln)
NM_000383.4(AIRE):c.1504-818G>A rs181779633
NM_000384.3(APOB):c.10460C>T (p.Thr3487Ile) rs369574095
NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp) rs1418775778
NM_000384.3(APOB):c.10740C>G (p.Asn3580Lys) rs150312765
NM_000384.3(APOB):c.10845C>A (p.Asp3615Glu) rs2465358432
NM_000384.3(APOB):c.10955A>G (p.Asn3652Ser) rs760734006
NM_000384.3(APOB):c.1205A>G (p.His402Arg) rs965602697
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.13029T>A (p.Tyr4343Ter) rs147825458
NM_000384.3(APOB):c.13153C>T (p.Arg4385Cys) rs864309556
NM_000384.3(APOB):c.3514G>A (p.Glu1172Lys) rs771182405
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup) rs777844352
NM_000384.3(APOB):c.4097T>C (p.Leu1366Ser) rs2465380963
NM_000384.3(APOB):c.433C>G (p.Pro145Ala) rs6752026
NM_000384.3(APOB):c.4822T>A (p.Ser1608Thr) rs1341097223
NM_000384.3(APOB):c.5898C>A (p.His1966Gln) rs1663298600
NM_000384.3(APOB):c.649C>T (p.Pro217Ser) rs573308525
NM_000384.3(APOB):c.6673dup (p.Thr2225fs) rs2465370870
NM_000384.3(APOB):c.6752A>G (p.Asn2251Ser) rs2465370718
NM_000384.3(APOB):c.7118C>T (p.Thr2373Ile) rs1417267509
NM_000384.3(APOB):c.8045G>T (p.Ser2682Ile) rs375053331
NM_000384.3(APOB):c.8548A>G (p.Ile2850Val) rs779211270
NM_000384.3(APOB):c.9947C>G (p.Ser3316Cys) rs1663160141
NM_000391.4(TPP1):c.751T>C (p.Phe251Leu) rs1855592796
NM_000391.4(TPP1):c.959T>G (p.Val320Gly) rs1314521780
NM_000393.5(COL5A2):c.808G>A (p.Gly270Ser) rs1553517181
NM_000397.4(CYBB):c.728T>C (p.Val243Ala) rs1929377773
NM_000417.3(IL2RA):c.76G>C (p.Asp26His) rs55868253
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys) rs2114287747
NM_000430.4(PAFAH1B1):c.-190-8934C>G rs2068526832
NM_000435.3(NOTCH3):c.2410+7C>T rs766705336
NM_000435.3(NOTCH3):c.2749G>A (p.Gly917Arg) rs150338460
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val) rs762403860
NM_000458.4(HNF1B):c.544C>T (p.Gln182Ter) rs1568670481
NM_000459.5(TEK):c.3200+1G>A rs2489010435
NM_000474.4(TWIST1):c.518del (p.Ala173fs) rs2115396502
NM_000481.4(AMT):c.362A>G (p.Asn121Ser) rs2049078071
NM_000489.6(ATRX):c.3924A>T (p.Glu1308Asp) rs2070136349
NM_000489.6(ATRX):c.4103G>T (p.Gly1368Val) rs2148487205
NM_000489.6(ATRX):c.7066G>A (p.Ala2356Thr) rs1339589345
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs) rs121908799
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000516.7(GNAS):c.565_568del (p.Asp189fs) rs587776829
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys) rs1601162438
NM_000521.4:c.1_669del
NM_000527.5(LDLR):c.103C>T (p.Gln35Ter) rs879254408
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1A>T (p.Met1Leu) rs879254382
NM_000527.5(LDLR):c.253C>T (p.Gln85Ter) rs875989893
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs) rs397507445
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_000540.3(RYR1):c.13041_13066del (p.Ala4348fs) rs2514678371
NM_000540.3(RYR1):c.1460T>C (p.Leu487Pro) rs1008860336
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000548.5(TSC2):c.1257+5G>A rs2151157428
NM_000548.5(TSC2):c.4758C>A (p.Asp1586Glu) rs1366814192
NM_000548.5(TSC2):c.4916G>A (p.Arg1639His) rs137854153
NM_000548.5(TSC2):c.5413G>A (p.Glu1805Lys) rs376017665
NM_000548.5(TSC2):c.649-30A>T rs2151076571
NM_000548.5(TSC2):c.975+45C>G rs373276095
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000618.5(IGF1):c.320T>G (p.Met107Arg) rs772195421
NM_000666.3(ACY1):c.734_735del (p.Glu245fs) rs1701105628
NM_000682.7(ADRA2B):c.898_899insGGGAAGAGG (p.Glu299_Glu300insGlyGluGlu) rs1332297745
NM_000682.7(ADRA2B):c.943G>C (p.Val315Leu) rs200278633
NM_000701.8(ATP1A1):c.518G>A (p.Arg173Gln) rs2525829879
NM_000702.4(ATP1A2):c.433T>C (p.Ser145Pro) rs2101985906
NM_000709.4(BCKDHA):c.65del (p.Leu22fs) rs2123232744
NM_000718.4(CACNA1B):c.4601C>T (p.Ala1534Val) rs2133507643
NM_000718.4(CACNA1B):c.79G>T (p.Gly27Cys) rs758563303
NM_000719.7(CACNA1C):c.3239A>T (p.Glu1080Val) rs2518326811
NM_000719.7(CACNA1C):c.3577G>A (p.Ala1193Thr) rs1251955384
NM_000719.7(CACNA1C):c.4558C>A (p.Leu1520Ile) rs1032623545
NM_000719.7(CACNA1C):c.5444+584T>G rs2153807364
NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp) rs2535534488
NM_000726.5(CACNB4):c.959C>T (p.Ala320Val) rs2151358415
NM_000742.4(CHRNA2):c.1063C>T (p.Arg355Cys) rs56339365
NM_000742.4(CHRNA2):c.607_629delinsATAAGTCCAG (p.Ser203fs) rs1812608825
NM_000742.4(CHRNA2):c.907G>C (p.Val303Leu) rs2132652645
NM_000744.7(CHRNA4):c.1466T>C (p.Ile489Thr) rs377087067
NM_000748.3(CHRNB2):c.360CAA[1] (p.Asn122del) rs796052329
NM_000748.3(CHRNB2):c.378G>A (p.Met126Ile) rs1696158208
NM_000751.3(CHRND):c.248G>A (p.Trp83Ter) rs2106208285
NM_000755.5(CRAT):c.1464+306_1527+181del rs1847322493
NM_000807.4(GABRA2):c.76G>T (p.Val26Leu) rs769353682
NM_000809.4(GABRA4):c.1087C>T (p.Pro363Ser) rs1722702199
NM_000811.3(GABRA6):c.167C>G (p.Thr56Ser) rs753242603
NM_000814.6(GABRB3):c.424C>T (p.Arg142Cys) rs1892475061
NM_000814.6(GABRB3):c.666TGT[1] (p.Val224del) rs2140730286
NM_000814.6(GABRB3):c.791C>T (p.Ser264Phe) rs2140696672
NM_000815.5(GABRD):c.1115A>G (p.Gln372Arg) rs1659040935
NM_000815.5(GABRD):c.69-4C>T rs1052163062
NM_000821.7(GGCX):c.973dup (p.Arg325fs) rs768019203
NM_000827.4(GRIA1):c.1034G>A (p.Arg345Gln) rs142859488
NM_000829.4(GRIA4):c.364T>G (p.Phe122Val) rs2135695237
NM_000829.4(GRIA4):c.672+9389T>C rs2136050686
NM_000834.5(GRIN2B):c.1126-3C>T rs1555112424
NM_000834.5(GRIN2B):c.2117T>A (p.Met706Lys) rs2136415741
NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His) rs904771425
NM_000834.5(GRIN2B):c.4282A>C (p.Lys1428Gln) rs1555101597
NM_000834.5(GRIN2B):c.4406G>A (p.Ser1469Asn) rs202133231
NM_000836.4(GRIN2D):c.3022T>C (p.Phe1008Leu) rs2147476513
NM_000836.4(GRIN2D):c.3797C>A (p.Ala1266Glu) rs1971340970
NM_000836.4(GRIN2D):c.938G>A (p.Arg313Gln) rs773027827
NM_000841.4(GRM4):c.115C>T (p.His39Tyr) rs2127511696
NM_000901.5(NR3C2):c.102del (p.Glu35fs) rs2126657667
NM_000901.5(NR3C2):c.758A>T (p.His253Leu) rs1364162260
NM_000937.5(POLR2A):c.2887C>T (p.Arg963Trp) rs2150883974
NM_000937.5(POLR2A):c.3946A>G (p.Asn1316Asp) rs1303710800
NM_000937.5(POLR2A):c.4645A>T (p.Ser1549Cys) rs145775309
NM_000937.5(POLR2A):c.5577G>T (p.Lys1859Asn) rs534923033
NM_000939.4(POMC):c.280AGCAGCGGC[4] (p.94SSG[4]) rs10654394
NM_000944.5(PPP3CA):c.58+42297A>C rs2110302904
NM_000944.5(PPP3CA):c.59-12350G>A rs2110202600
NM_001001331.4(ATP2B2):c.2765C>T (p.Ser922Leu) rs1057520233
NM_001001671.4(MAP3K15):c.3781-7G>C rs2147195977
NM_001003694.2(BRPF1):c.241G>A (p.Val81Ile) rs2076904769
NM_001003694.2(BRPF1):c.2515G>A (p.Gly839Ser) rs747151437
NM_001003694.2(BRPF1):c.2588A>C (p.Gln863Pro) rs2471502725
NM_001003694.2(BRPF1):c.362A>C (p.Glu121Ala) rs2125490572
NM_001003699.4(RREB1):c.1604C>A (p.Pro535Gln) rs150527788
NM_001003841.3(SLC6A19):c.1019A>T (p.Asn340Ile) rs1373139216
NM_001004320.2(AGMO):c.1098_1100del (p.Leu367del) rs773539256
NM_001004320.2(AGMO):c.621C>G (p.Asn207Lys) rs565738776
NM_001004320.2(AGMO):c.957_957+18del rs756729494
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.669_671dup (p.Gly224dup) rs2137948788
NM_001005273.3(CHD3):c.214-5C>T rs2151465885
NM_001005273.3(CHD3):c.2656C>G (p.His886Asp) rs2151569587
NM_001005273.3(CHD3):c.3377G>C (p.Gly1126Ala) rs1274009768
NM_001005273.3(CHD3):c.4077_4080delinsGTGGGGGTGGAGT (p.Asn1359_Gln1360delinsLysTrpGlyTrpSer) rs2151622456
NM_001005273.3(CHD3):c.4556C>G (p.Pro1519Arg) rs1567868694
NM_001005273.3(CHD3):c.4788+6T>A rs1401481408
NM_001005388.3(NFASC):c.2012A>G (p.Gln671Arg) rs2095471439
NM_001005388.3(NFASC):c.3176C>T (p.Ala1059Val) rs2096014541
NM_001006658.3(CR2):c.2975A>G (p.Tyr992Cys) rs1658485394
NM_001007527.2(LMBRD2):c.1073C>T (p.Pro358Leu) rs2111872754
NM_001007553.3(CSDE1):c.2336C>G (p.Pro779Arg) rs2101002680
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009996.3(DALRD3):c.1225C>T (p.Arg409Cys) rs1466251286
NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp) rs869320802
NM_001014840.2(CUTA):c.202G>A (p.Val68Ile) rs2151116808
NM_001018005.2(TPM1):c.563+53C>G rs374720707
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001024593.2(MSS51):c.378-2A>G rs2132722113
NM_001024843.2(TNRC6B):c.104A>C (p.Glu35Ala) rs1601847316
NM_001031689.3(PLAA):c.481C>T (p.Pro161Ser) rs778429815
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro) rs2131501072
NM_001032221.6(STXBP1):c.38-300C>T rs2132435278
NM_001032221.6(STXBP1):c.576G>A (p.Arg192=) rs752943575
NM_001034954.3(SORBS1):c.11-1149_172+856del
NM_001035.3(RYR2):c.12279C>G (p.Asp4093Glu) rs1695342105
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.4597-4T>A rs1676557876
NM_001036.6(RYR3):c.11555T>C (p.Met3852Thr) rs2152976640
NM_001036.6(RYR3):c.14098G>C (p.Glu4700Gln) rs201221837
NM_001036.6(RYR3):c.6992G>C (p.Gly2331Ala) rs2152815011
NM_001036.6(RYR3):c.949G>A (p.Ala317Thr) rs1326359705
NM_001037.5(SCN1B):c.*8C>T rs2151749169
NM_001039111.3(TRIM71):c.1110G>C (p.Arg370Ser) rs752251831
NM_001039591.3(USP9X):c.1081G>A (p.Val361Met) rs2519133262
NM_001039591.3(USP9X):c.1738_1741del (p.Phe580fs) rs1431284689
NM_001039591.3(USP9X):c.3386T>C (p.Met1129Thr) rs2147158621
NM_001039591.3(USP9X):c.766A>G (p.Ile256Val) rs2062415844
NM_001040142.2(SCN2A):c.1058G>A (p.Cys353Tyr) rs1697566111
NM_001040616.3(LINS1):c.1909G>A (p.Val637Met) rs376634257
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001040616.3(LINS1):c.490-1G>C rs768006727
NM_001041.4(SI):c.1399-402_1513-1189dup
NM_001042413.2(GLIS3):c.-98-4A>G rs2489439115
NM_001042413.2(GLIS3):c.122C>A (p.Ser41Ter) rs773807925
NM_001042413.2(GLIS3):c.1710+59006G>A rs59154070
NM_001042413.2(GLIS3):c.389-58616G>C rs370273582
NM_001042413.2(GLIS3):c.389-7364T>G rs2488626506
NM_001042413.2(GLIS3):c.491T>A (p.Ile164Asn) rs1219730617
NM_001042413.2(GLIS3):c.505A>G (p.Ser169Gly) rs748419604
NM_001042424.3(NSD2):c.2639del (p.Phe880fs) rs2108958731
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp) rs73533466
NM_001042492.3(NF1):c.1882del (p.Tyr628fs) rs1555613558
NM_001042492.3(NF1):c.3610C>G (p.Arg1204Gly) rs199474732
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042603.3(KDM5A):c.1726C>T (p.Gln576Ter) rs773333271
NM_001042681.2(RERE):c.1190C>T (p.Thr397Ile) rs1557644694
NM_001042681.2(RERE):c.1203+3653A>G rs2124113169
NM_001042681.2(RERE):c.326-8998C>A rs1321833811
NM_001042681.2(RERE):c.3591G>T (p.Glu1197Asp) rs2124364110
NM_001042681.2:c.325+153_326-10741del
NM_001042750.2(STAG2):c.3222dup (p.Ser1075fs) rs2522404519
NM_001046.3(SLC12A2):c.2616+1547G>T rs2126736189
NM_001046.3(SLC12A2):c.3566C>T (p.Ala1189Val) rs768256710
NM_001061.7(TBXAS1):c.1420del (p.Ala474fs) rs794727053
NM_001070.5(TUBG1):c.940A>C (p.Asn314His) rs2052059964
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter) rs1199226176
NM_001077350.3(NPRL3):c.394-1747del rs2141952986
NM_001077350.3(NPRL3):c.653G>C (p.Arg218Pro) rs201341279
NM_001077365.2(POMT1):c.1552_1569delinsTGACGTCCTGCTGACG (p.Leu518_Arg523delinsTer) rs1564381395
NM_001077594.2(EXOC3L4):c.561C>G (p.Asp187Glu) rs766530029
NM_001079537.2(TRAPPC6B):c.71A>G (p.Gln24Arg) rs1371436271
NM_001079843.3(CASZ1):c.2969T>C (p.Leu990Pro) rs1347133465
NM_001079855.2(GYG2):c.842G>A (p.Cys281Tyr) rs951388045
NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=) rs1365805546
NM_001080414.4(CCDC88C):c.3404A>G (p.Gln1135Arg) rs1407640264
NM_001080421.3(UNC13A):c.2255G>A (p.Arg752His) rs1369895005
NM_001080421.3(UNC13A):c.3497G>C (p.Gly1166Ala) rs758916422
NM_001080421.3(UNC13A):c.832G>A (p.Glu278Lys) rs868832101
NM_001080453.3(INTS1):c.3424_3429+20del rs774959930
NM_001080477.4(TENM3):c.631A>G (p.Arg211Gly) rs923678656
NM_001080510.5(METTL23):c.169_172del (p.His57fs) rs587777644
NM_001080517.3(SETD5):c.1711G>T (p.Val571Phe) rs768631076
NM_001080517.3(SETD5):c.2347-7A>G rs886041593
NM_001080517.3(SETD5):c.3259G>A (p.Gly1087Ser) rs2045527216
NM_001080517.3(SETD5):c.3341G>T (p.Gly1114Val) rs201189533
NM_001080517.3(SETD5):c.719G>A (p.Ser240Asn) rs756127804
NM_001080517.3(SETD5):c.972T>G (p.Phe324Leu) rs2041370929
NM_001081.4(CUBN):c.3605C>T (p.Ala1202Val) rs1835097031
NM_001081550.2(THOC2):c.4519+3A>G rs2046785257
NM_001083603.3(PTCH1):c.4del (p.Glu2fs) rs752765582
NM_001083619.3(GRIA2):c.739C>G (p.Leu247Val) rs1734562238
NM_001083961.2(WDR62):c.4402G>A (p.Ala1468Thr) rs1973650905
NM_001083962.2(TCF4):c.1487-2A>G rs2511585414
NM_001083962.2(TCF4):c.549+23042C>T rs2147664454
NM_001098511.3(KIF2A):c.907G>A (p.Glu303Lys) rs1748391389
NM_001099403.2(PRDM8):c.589G>T (p.Val197Leu) rs1578262845
NM_001099857.5(IKBKG):c.399+6C>T rs1557236080
NM_001100588.3(RC3H2):c.1868dup (p.Thr624fs) rs2131394687
NM_001100913.3(PACS2):c.2315C>G (p.Pro772Arg) rs1555415243
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001101.5(ACTB):c.802+8G>C rs2128241257
NM_001102401.4(TTI2):c.1350dup (p.Lys451Ter) rs758541435
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr) rs1060503682
NM_001105206.3(LAMA4):c.1318C>G (p.Arg440Gly) rs140911762
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr) rs1603363301
NM_001110556.2(FLNA):c.4403C>T (p.Pro1468Leu) rs2067683771
NM_001110556.2(FLNA):c.5861-4C>G rs2522724299
NM_001110556.2(FLNA):c.6904C>T (p.Pro2302Ser) rs201008265
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys) rs61748390
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val) rs61750249
NM_001111125.3(IQSEC2):c.3386A>T (p.Tyr1129Phe) rs2074130698
NM_001111125.3(IQSEC2):c.943dup (p.Arg315fs) rs2147127449
NM_001113490.2(AMOT):c.3043_3044delinsT (p.Ala1015fs) rs2521506294
NM_001114753.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_001122630.2(CDKN1C):c.174G>A (p.Met58Ile) rs2133785866
NM_001122681.2(SH3BP2):c.750T>A (p.Ala250=) rs231399
NM_001122764.3(PPOX):c.688C>T (p.Arg230Cys) rs775261607
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val) rs751558047
NM_001123385.2(BCOR):c.2266G>A (p.Glu756Lys) rs1935566838
NM_001123385.2(BCOR):c.2722G>A (p.Asp908Asn) rs542522950
NM_001126108.2(SLC12A3):c.56_57dup (p.Phe20fs) rs758683818
NM_001127208.3(TET2):c.5777G>A (p.Arg1926His) rs1316795626
NM_001127217.3(SMAD9):c.281G>C (p.Arg94Pro) rs748334459
NM_001127222.2(CACNA1A):c.1199-7T>A rs2145126181
NM_001127222.2(CACNA1A):c.2692G>C (p.Gly898Arg) rs751726770
NM_001127222.2(CACNA1A):c.2813G>A (p.Gly938Asp) rs747413278
NM_001127222.2(CACNA1A):c.3017G>T (p.Arg1006Leu) rs1268938831
NM_001127222.2(CACNA1A):c.3090-5C>T rs976595665
NM_001127222.2(CACNA1A):c.3145C>A (p.Pro1049Thr) rs2057414205
NM_001127222.2(CACNA1A):c.3643A>G (p.Lys1215Glu) rs1476884019
NM_001127222.2(CACNA1A):c.3822+70A>G rs1462524553
NM_001127222.2(CACNA1A):c.6506G>T (p.Arg2169Leu) rs1417890059
NM_001127222.2(CACNA1A):c.7445T>G (p.Leu2482Arg) rs2144488387
NM_001127392.3(MYRF):c.135-119_1062del
NM_001127392.3(MYRF):c.385C>T (p.Pro129Ser) rs1391704383
NM_001127392.3(MYRF):c.859_1591-84del
NM_001127644.2(GABRA1):c.586T>C (p.Tyr196His) rs2113414428
NM_001127644.2(GABRA1):c.781T>C (p.Cys261Arg) rs2113446513
NM_001128840.3(CACNA1D):c.1372G>C (p.Glu458Gln) rs1193226150
NM_001128840.3(CACNA1D):c.2473G>A (p.Val825Ile) rs2094998922
NM_001128840.3(CACNA1D):c.2569A>C (p.Ile857Leu) rs142057539
NM_001128840.3(CACNA1D):c.484-53385T>G rs2107845171
NM_001130438.3(SPTAN1):c.7132G>A (p.Ala2378Thr) rs767301092
NM_001130438.3(SPTAN1):c.7229C>T (p.Ser2410Phe) rs2132106592
NM_001130823.3(DNMT1):c.4136G>A (p.Arg1379Gln) rs2145258691
NM_001130924.3(TMEM201):c.1178_1179del (p.Ser393fs) rs2100515526
NM_001134407.3(GRIN2A):c.1007+5923G>C rs2141611422
NM_001134407.3(GRIN2A):c.1778-2A>C rs2141313144
NM_001134407.3(GRIN2A):c.2870G>A (p.Gly957Glu) rs2141136377
NM_001134407.3(GRIN2A):c.3604G>C (p.Glu1202Gln) rs1555482336
NM_001134407.3(GRIN2A):c.3792G>A (p.Glu1264=) rs2141129533
NM_001134407.3(GRIN2A):c.415-89902G>A rs2141916983
NM_001134407.3(GRIN2A):c.4319C>T (p.Ser1440Phe) rs752489703
NM_001134771.2(SLC12A5):c.5G>A (p.Ser2Asn) rs868778058
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001135651.3(EIF2AK2):c.971A>G (p.Asn324Ser) rs1674595991
NM_001136035.4(TRMT1):c.21G>A (p.Trp7Ter) rs1357887994
NM_001136157.2(OTUD5):c.151G>A (p.Asp51Asn) rs2147704197
NM_001142864.4(PIEZO1):c.3154C>T (p.Gln1052Ter) rs922414644
NM_001142864.4(PIEZO1):c.4955+1G>A rs2507854281
NM_001142864.4(PIEZO1):c.7367G>C (p.Arg2456Pro) rs587776988
NM_001144967.3(NEDD4L):c.1576-4G>T rs747092381
NM_001144967.3(NEDD4L):c.1888G>C (p.Glu630Gln) rs763159512
NM_001144967.3(NEDD4L):c.49-3119A>G rs1452103721
NM_001144967.3(NEDD4L):c.572C>G (p.Pro191Arg) rs2144405860
NM_001145358.2(SIN3A):c.1051C>T (p.Pro351Ser) rs2073605317
NM_001145358.2(SIN3A):c.1373A>G (p.His458Arg) rs768415150
NM_001145358.2(SIN3A):c.212C>T (p.Ser71Phe) rs2073861256
NM_001145358.2(SIN3A):c.2485G>C (p.Gly829Arg) rs2073227641
NM_001145358.2(SIN3A):c.3346C>T (p.Arg1116Cys) rs760200525
NM_001145358.2(SIN3A):c.3591G>A (p.Gln1197=) rs2141368447
NM_001145418.2(TTC28):c.3536T>C (p.Leu1179Pro) rs2146873467
NM_001148.6(ANK2):c.11860-3214A>G rs2154083923
NM_001148.6(ANK2):c.5963T>C (p.Met1988Thr) rs2154021231
NM_001148.6(ANK2):c.8016G>T (p.Gln2672His) rs1235099082
NM_001148.6(ANK2):c.8027G>A (p.Gly2676Asp) rs752323136
NM_001148.6(ANK2):c.8140G>A (p.Val2714Ile) rs753223319
NM_001148.6(ANK2):c.85-28508A>G rs1235009220
NM_001148.6(ANK2):c.9905C>G (p.Ser3302Cys) rs2095969252
NM_001161352.2(KCNMA1):c.1224-326G>C rs2153793727
NM_001161352.2(KCNMA1):c.2547C>A (p.Asp849Glu) rs147369374
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001161352.2(KCNMA1):c.378+5538T>G rs2154571203
NM_001161352.2(KCNMA1):c.379-114292C>G rs2154549804
NM_001161352.2(KCNMA1):c.379-51304del rs2154521818
NM_001162501.2(TNRC6B):c.3392G>A (p.Ser1131Asn) rs1358673489
NM_001162501.2(TNRC6B):c.4876G>A (p.Gly1626Arg) rs2071245081
NM_001162501.2(TNRC6B):c.530A>G (p.Asn177Ser) rs1196617827
NM_001163809.2(WDR81):c.1045G>C (p.Val349Leu) rs150798889
NM_001164664.2(MAST4):c.642+55458C>T rs981480743
NM_001165899.2(PDE4D):c.91C>G (p.Arg31Gly) rs1266456259
NM_001165963.4(SCN1A):c.-142G>A rs2106003538
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg) rs1398374184
NM_001165963.4(SCN1A):c.3124C>T (p.Gln1042Ter) rs1553540342
NM_001165963.4(SCN1A):c.3718_3729del (p.Ile1240_Asp1243del) rs1574052546
NM_001165963.4(SCN1A):c.4234A>G (p.Lys1412Glu) rs1553524977
NM_001165963.4(SCN1A):c.4888G>A (p.Val1630Met) rs121917914
NM_001170535.3(ATAD3A):c.207_213delinsCCATGTCA (p.Tyr70fs) rs2524128308
NM_001170629.2(CHD8):c.1720del (p.Arg574fs) rs2139499999
NM_001170629.2(CHD8):c.4904T>C (p.Ile1635Thr) rs1887944313
NM_001170629.2(CHD8):c.6496C>T (p.Leu2166Phe) rs773908554
NM_001171.6(ABCC6):c.4191C>G (p.Asp1397Glu) rs1021172050
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys) rs1057521083
NM_001172509.2(SATB2):c.700+5290A>G rs2105843329
NM_001178035.2(CEP85L):c.7T>G (p.Trp3Gly) rs957031499
NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu) rs759866910
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro) rs2147537859
NM_001184880.2(PCDH19):c.200C>G (p.Ser67Trp) rs868762744
NM_001184880.2(PCDH19):c.296G>A (p.Cys99Tyr) rs2147542235
NM_001190274.2(FBXO11):c.1340G>A (p.Arg447Lys) rs2104807871
NM_001190274.2(FBXO11):c.2443_2446+5del rs2104625803
NM_001190274.2(FBXO11):c.376A>G (p.Thr126Ala) rs17036993
NM_001190737.2(NFIB):c.*98G>C rs2118462290
NM_001190738.2(NFIB):c.109-33576G>A rs2132874132
NM_001195305.3(BBIP1):c.-57+4A>C rs545270940
NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser) rs2134413643
NM_001197104.2(KMT2A):c.129del (p.Pro45fs) rs2134152803
NM_001197104.2(KMT2A):c.130C>A (p.Pro44Thr) rs1437526128
NM_001197104.2(KMT2A):c.226G>T (p.Gly76Trp) rs1949190966
NM_001197104.2(KMT2A):c.2797C>T (p.Arg933Trp) rs782407414
NM_001197104.2(KMT2A):c.2986T>C (p.Ser996Pro) rs1949992868
NM_001197104.2(KMT2A):c.4333-2A>G rs2134327570
NM_001197104.2(KMT2A):c.6518C>T (p.Pro2173Leu) rs2134384180
NM_001197104.2(KMT2A):c.7020del (p.Asn2340fs) rs1950523317
NM_001197104.2(KMT2A):c.7706G>C (p.Gly2569Ala) rs1854349115
NM_001198533.2(OXR1):c.2163+5G>A rs760185933
NM_001199107.2(TBC1D24):c.-116+125A>C rs2141848023
NM_001199107.2(TBC1D24):c.1142+272T>C rs2141874790
NM_001199107.2(TBC1D24):c.642_793del (p.Trp215fs) rs2141872119
NM_001205019.2(GK):c.197A>C (p.Glu66Ala) rs2147144601
NM_001205293.3(CACNA1E):c.1422A>T (p.Lys474Asn) rs2102461555
NM_001205293.3(CACNA1E):c.3160_3161dup (p.Cys1055fs) rs2102558297
NM_001205293.3(CACNA1E):c.3235C>T (p.Pro1079Ser) rs1007809575
NM_001205293.3(CACNA1E):c.3612+226A>G rs1486716719
NM_001205293.3(CACNA1E):c.6664G>A (p.Ala2222Thr) rs369634310
NM_001205293.3(CACNA1E):c.951+29674C>T rs1654651595
NM_001205293.3(CACNA1E):c.[2253G>A;2255G>A]
NM_001220.5(CAMK2B):c.197G>A (p.Arg66His) rs745930853
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001232.4(CASQ2):c.362G>A (p.Arg121His) rs759805011
NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro) rs2148665735
NM_001242896.3(DEPDC5):c.1324+1G>T rs2088011240
NM_001242896.3(DEPDC5):c.1640G>C (p.Ser547Thr) rs1483477312
NM_001242896.3(DEPDC5):c.1655C>G (p.Thr552Ser) rs2088928378
NM_001242896.3(DEPDC5):c.4627C>T (p.Arg1543Trp) rs780294726
NM_001242896.3(DEPDC5):c.687del (p.Lys229fs) rs2518594940
NM_001243156.2(TAF1C):c.1522del (p.Gln508fs) rs753315015
NM_001244008.2(KIF1A):c.179C>A (p.Thr60Asn) rs2126098516
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del) rs2538436610
NM_001244008.2(KIF1A):c.3744C>G (p.Asn1248Lys) rs771357052
NM_001256012.3(MYH10):c.4148AGG[7] (p.Glu1388dup) rs146612839
NM_001256071.3(RNF213):c.13062G>C (p.Lys4354Asn) rs2144536464
NM_001256155.3(ARMCX4):c.134T>C (p.Val45Ala) rs2521590088
NM_001256627.2(BRSK2):c.182T>C (p.Met61Thr) rs1341201081
NM_001256627.2(BRSK2):c.2130_2135dup (p.709PG[3]) rs758277049
NM_001257291.2(SLC9A7):c.1447ATG[2] (p.Met485del) rs2146771598
NM_001257291.2(SLC9A7):c.947A>T (p.Asp316Val) rs764103078
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.102455A>G (p.His34152Arg) rs2468523896
NM_001267550.2(TTN):c.106572G>T (p.Lys35524Asn) rs2468313586
NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr) rs1349501051
NM_001267550.2(TTN):c.19655C>T (p.Thr6552Ile) rs2529843663
NM_001267550.2(TTN):c.19993+6C>T rs371014054
NM_001267550.2(TTN):c.22496C>T (p.Thr7499Ile) rs2529482583
NM_001267550.2(TTN):c.23329A>G (p.Thr7777Ala) rs1560668952
NM_001267550.2(TTN):c.26333G>C (p.Arg8778Thr) rs1486145907
NM_001267550.2(TTN):c.29285C>T (p.Thr9762Ile) rs1347223686
NM_001267550.2(TTN):c.33277G>A (p.Glu11093Lys) rs1223983021
NM_001267550.2(TTN):c.3476G>T (p.Arg1159Leu) rs149883066
NM_001267550.2(TTN):c.36267_36280+16del rs745871962
NM_001267550.2(TTN):c.38488G>A (p.Ala12830Thr) rs1053167018
NM_001267550.2(TTN):c.38918C>G (p.Pro12973Arg) rs907757552
NM_001267550.2(TTN):c.40761_40766del (p.Glu13588_Pro13589del) rs1560017819
NM_001267550.2(TTN):c.41002CCT[1] (p.Pro13669del) rs747793660
NM_001267550.2(TTN):c.42439C>T (p.Pro14147Ser) rs1559970037
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val) rs372013419
NM_001267550.2(TTN):c.52405+4A>G rs2470347435
NM_001267550.2(TTN):c.53741A>C (p.Lys17914Thr) rs2054582946
NM_001267550.2(TTN):c.64880G>T (p.Gly21627Val) rs2154180072
NM_001267550.2(TTN):c.64906G>C (p.Ala21636Pro) rs765859586
NM_001267550.2(TTN):c.65143C>G (p.Arg21715Gly) rs766522121
NM_001267550.2(TTN):c.66753T>G (p.Tyr22251Ter) rs2047743679
NM_001267550.2(TTN):c.71266G>A (p.Gly23756Ser) rs2468650185
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72988C>T (p.Pro24330Ser) rs878888593
NM_001267550.2(TTN):c.74609C>T (p.Ala24870Val) rs2468497313
NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala) rs1469008305
NM_001267550.2(TTN):c.81905A>G (p.Lys27302Arg) rs2154162241
NM_001267550.2(TTN):c.82682T>C (p.Phe27561Ser) rs2468163865
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.89136C>A (p.Asn29712Lys) rs376289479
NM_001267550.2(TTN):c.89993C>A (p.Ser29998Ter) rs376543931
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His) rs200540781
NM_001267550.2(TTN):c.98810_98811del (p.Lys32937fs) rs2468750564
NM_001270.4(CHD1):c.3113G>T (p.Arg1038Ile) rs1750025322
NM_001270.4(CHD1):c.3337G>A (p.Gly1113Arg) rs1749765020
NM_001270.4(CHD1):c.3998A>G (p.Lys1333Arg) rs1749202438
NM_001270.4(CHD1):c.4850C>G (p.Ser1617Ter) rs2112436440
NM_001270.4(CHD1):c.735_738delinsGGAT (p.Asp245_Glu246delinsGluAsp) rs2112522658
NM_001270943.2(KLF7):c.3+1G>T rs2078739906
NM_001271.4(CHD2):c.2189+8C>T rs1486555733
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs) rs2141839134
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys) rs2054200789
NM_001271.4(CHD2):c.4560del (p.Ser1521fs) rs2054360719
NM_001271.4(CHD2):c.5126A>T (p.His1709Leu) rs1172858416
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn) rs1555439526
NM_001272071.2(AP1S2):c.154C>T (p.Arg52Ter) rs104894735
NM_001273.5(CHD4):c.5669G>T (p.Arg1890Leu) rs201121936
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp) rs45525839
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001277115.2(DNAH11):c.5005C>T (p.Gln1669Ter) rs2534830355
NM_001278116.2(L1CAM):c.2603_2604del (p.Lys868fs) rs2148494123
NM_001278293.3(ARL6):c.254+1371G>A rs570260290
NM_001278512.2(AP3B2):c.2599C>T (p.Pro867Ser) rs2151427966
NM_001278512.2(AP3B2):c.66C>G (p.Tyr22Ter) rs1304104449
NM_001282116.2(RFX3):c.2179G>C (p.Glu727Gln) rs1267719538
NM_001282531.3(ADNP):c.2163_2164dup (p.Met722fs) rs2122746369
NM_001282531.3(ADNP):c.3045_3047del (p.Lys1016del) rs761350619
NM_001283009.2(RTEL1):c.3578del (p.Val1193fs) rs2145479688
NM_001283009.2(RTEL1):c.3595G>A (p.Asp1199Asn) rs2145479801
NM_001287491.2(TET3):c.-425+1G>T rs2105049195
NM_001287491.2(TET3):c.3542T>C (p.Leu1181Pro) rs762454349
NM_001287491.2(TET3):c.3604+7G>T rs776625317
NM_001287491.2(TET3):c.3966C>G (p.His1322Gln) rs768193705
NM_001287491.2(TET3):c.4184C>T (p.Ser1395Phe) rs762846019
NM_001287511.2(PPCS):c.636_639del (p.Leu213fs) rs912203499
NM_001288705.3(CSF1R):c.410G>T (p.Gly137Val) rs2113831310
NM_001291415.2(KDM6A):c.1613A>G (p.Asn538Ser) rs2147985031
NM_001291415.2(KDM6A):c.65A>C (p.Glu22Ala) rs760601613
NM_001291867.2(NHS):c.566-100130A>C rs2146987459
NM_001297719.2(BMAL1):c.602T>C (p.Ile201Thr) rs2135311737
NM_001300905.2(BAZ2A):c.5041dup (p.Arg1681fs) rs2136715990
NM_001303052.2(MYT1L):c.-520G>A rs984804797
NM_001303052.2(MYT1L):c.-521+4932G>C rs2149728599
NM_001303052.2(MYT1L):c.2452G>A (p.Asp818Asn) rs2048539766
NM_001303052.2(MYT1L):c.3529A>G (p.Ile1177Val) rs2147782605
NM_001303052.2(MYT1L):c.682A>G (p.Asn228Asp) rs2053776375
NM_001304284.2(USP6):c.-1299+1281G>A rs2072746919
NM_001317778.2(SFTPC):c.481C>T (p.Arg161Ter) rs1209953579
NM_001317785.2(STYXL1):c.328A>G (p.Ile110Val) rs1792918926
NM_001317950.2(AKNA):c.1174_1184del (p.Ala392fs) rs1368342131
NM_001318510.2(ACSL4):c.1417A>G (p.Asn473Asp) rs1922335543
NM_001318510.2(ACSL4):c.1698-3dup rs748641243
NM_001318525.2(TRAPPC2L):c.5C>G (p.Ala2Gly) rs751046231
NM_001318852.2(MAPK8IP3):c.3865G>A (p.Gly1289Arg) rs2141961348
NM_001320.7(CSNK2B):c.349C>T (p.Gln117Ter) rs2151188371
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg) rs1802026476
NM_001320714.2(DOP1B):c.4153G>A (p.Glu1385Lys) rs2066960838
NM_001321075.3(DLG4):c.1711C>T (p.Arg571Trp) rs2069587140
NM_001321852.2(JAK1):c.-78+60494G>T rs2100762085
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val) rs2147139674
NM_001323289.2(CDKL5):c.745-3007_825+774del
NM_001324418.2(ADAM22):c.1981dup (p.Met661fs) rs1842129329
NM_001329998.2(TRANK1):c.908-2950_1078+1838del
NM_001330078.2(NRXN1):c.832+42589_832+123997del
NM_001330260.2(SCN8A):c.1264C>A (p.Leu422Met) rs2138748384
NM_001330260.2(SCN8A):c.2491G>A (p.Glu831Lys) rs1555225505
NM_001330260.2(SCN8A):c.2901+2T>C rs2138863154
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp) rs1565917769
NM_001330260.2(SCN8A):c.3245A>T (p.Asp1082Val) rs2138868846
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln) rs1555226186
NM_001330260.2(SCN8A):c.3820-1G>T rs1373881732
NM_001330260.2(SCN8A):c.3944T>C (p.Val1315Ala) rs1592162415
NM_001330260.2(SCN8A):c.4441A>G (p.Met1481Val) rs886041670
NM_001330260.2(SCN8A):c.5924T>C (p.Val1975Ala) rs1565934813
NM_001330288.2(SMARCC2):c.111+2T>C rs892217209
NM_001330288.2(SMARCC2):c.1142-1G>C rs1875550324
NM_001330288.2(SMARCC2):c.158T>C (p.Val53Ala) rs1877434002
NM_001330288.2(SMARCC2):c.3058G>C (p.Ala1020Pro) rs762674487
NM_001330288.2(SMARCC2):c.3092G>A (p.Ser1031Asn) rs1872594253
NM_001330574.2(ZNF711):c.1877A>G (p.His626Arg) rs2147876365
NM_001330700.2(TOP2B):c.816A>T (p.Arg272Ser) rs2125385266
NM_001332.4(CTNND2):c.983del (p.Pro328fs) rs2149799429
NM_001347721.2(DYRK1A):c.962C>T (p.Pro321Leu) rs2053148979
NM_001348323.3(TRIP12):c.137C>T (p.Pro46Leu) rs2060290263
NM_001348323.3(TRIP12):c.1486G>A (p.Ala496Thr) rs2049053255
NM_001348323.3(TRIP12):c.3206+408T>G rs1461598857
NM_001348716.2(KDM6B):c.1146C>A (p.Cys382Ter) rs59062945
NM_001348716.2(KDM6B):c.1235G>A (p.Gly412Asp) rs772513608
NM_001348716.2(KDM6B):c.2524C>G (p.Pro842Ala) rs1000777879
NM_001348716.2(KDM6B):c.4737+1G>A rs2151380267
NM_001348768.2(HECW2):c.-35-72257T>G rs2125408449
NM_001348800.3(ZBTB20):c.1038dup (p.Ile347fs) rs2550503069
NM_001348800.3(ZBTB20):c.2114G>T (p.Gly705Val) rs2108081749
NM_001349.4(DARS1):c.1231-455A>G rs2104793090
NM_001349338.3(FOXP1):c.-297-21308G>T rs904697606
NM_001349338.3(FOXP1):c.-298+4925_-298+4928dup rs2107843453
NM_001349338.3(FOXP1):c.1888G>A (p.Val630Met) rs772816590
NM_001349338.3(FOXP1):c.34A>T (p.Asn12Tyr) rs2108382372
NM_001349338.3(FOXP1):c.38G>T (p.Gly13Val) rs2108382290
NM_001352027.3(PHF21A):c.1095+1557G>T rs1238886621
NM_001352027.3(PHF21A):c.1513G>A (p.Asp505Asn) rs1259186557
NM_001352027.3(PHF21A):c.154-47317A>C rs1202463009
NM_001353345.2(SETD1B):c.1558C>A (p.Pro520Thr) rs1875978154
NM_001353345.2(SETD1B):c.1579C>T (p.Gln527Ter) rs2137553018
NM_001353345.2(SETD1B):c.2672G>A (p.Arg891Gln) rs369582788
NM_001353345.2(SETD1B):c.2755G>A (p.Glu919Lys) rs1876325712
NM_001353345.2(SETD1B):c.3737G>T (p.Arg1246Leu) rs907823002
NM_001353345.2(SETD1B):c.4766A>G (p.Gln1589Arg) rs771551638
NM_001356.5(DDX3X):c.285-12T>A rs2063865427
NM_001360.3(DHCR7):c.744G>A (p.Trp248Ter) rs104894212
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu) rs1557233192
NM_001363711.2(DUOX2):c.3596T>C (p.Leu1199Pro) rs997825421
NM_001364497.2(DPP6):c.39T>A (p.Cys13Ter) rs2128935579
NM_001364905.1(LRBA):c.4111G>A (p.Ala1371Thr) rs761120687
NM_001364905.1(LRBA):c.6331-14021C>T rs2152122101
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.4399-6_4399-3del rs756116554
NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter) rs187558439
NM_001365902.3(NFIX):c.26A>C (p.Gln9Pro) rs2011445354
NM_001365902.3(NFIX):c.586C>T (p.Gln196Ter) rs2145430763
NM_001365902.3(NFIX):c.908C>T (p.Ala303Val) rs2512952129
NM_001365999.1(SZT2):c.*1719del rs776828656
NM_001365999.1(SZT2):c.10262A>G (p.Asn3421Ser) rs1458905925
NM_001365999.1(SZT2):c.1678G>T (p.Ala560Ser) rs1652436805
NM_001365999.1(SZT2):c.3784C>T (p.Pro1262Ser) rs2153933426
NM_001365999.1(SZT2):c.4034C>A (p.Ala1345Glu) rs1026710468
NM_001365999.1(SZT2):c.9799C>T (p.Arg3267Trp) rs538720577
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys) rs112061448
NM_001366110.1(PAX4):c.574_588del (p.Gly192_Asp196del) rs2535517076
NM_001366110.1(PAX4):c.677G>A (p.Arg226His) rs375472849
NM_001366110.1(PAX4):c.779dup (p.Gly261fs) rs536677108
NM_001366145.2(TRPM3):c.1222G>A (p.Ala408Thr) rs2135293220
NM_001366145.2(TRPM3):c.1976A>G (p.Lys659Arg) rs2133197810
NM_001367479.1(DNAH14):c.176_179del (p.Val59fs) rs748729159
NM_001367479.1(DNAH14):c.7610_7613del (p.Lys2537fs) rs549616863
NM_001367479.1(DNAH14):c.7751C>G (p.Ser2584Cys) rs569630401
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_001367561.1(DOCK7):c.389+2061A>G rs2149688351
NM_001367624.2(ZNF469):c.2581G>C (p.Asp861His) rs1342379077
NM_001367873.1(SOX6):c.445+33803del rs2494085455
NM_001367943.1(TCF7L2):c.1162-7C>A rs2137177533
NM_001369.3(DNAH5):c.1852C>T (p.Arg618Ter) rs778780449
NM_001369.3(DNAH5):c.[2577+5T>G;5413C>T]
NM_001369268.1(ACAN):c.2690G>A (p.Gly897Glu) rs1897026077
NM_001369268.1(ACAN):c.6993C>A (p.Cys2331Ter) rs986742379
NM_001370100.5(ZMYND11):c.117-534_276+3387dup
NM_001370100.5(ZMYND11):c.439-7T>A rs1950072373
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile) rs786204242
NM_001370466.1(NOD2):c.1579del (p.Ala527fs) rs2150811580
NM_001371189.2(UNC13B):c.12182C>T (p.Pro4061Leu) rs1410465047
NM_001371623.1(TCOF1):c.1017dup (p.Glu340fs) rs2533364557
NM_001371727.1(GABRB2):c.895A>G (p.Ile299Val) rs1580984895
NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg) rs2540243410
NM_001371928.1(AHDC1):c.3518T>A (p.Phe1173Tyr) rs2148267606
NM_001371986.1(UNC80):c.9934C>A (p.Leu3312Met) rs2125036339
NM_001372044.2(SHANK3):c.1124G>T (p.Arg375Leu) rs2124372210
NM_001372044.2(SHANK3):c.1181C>T (p.Ala394Val) rs2124372229
NM_001372044.2(SHANK3):c.2365C>T (p.Leu789=) rs1447758824
NM_001372044.2(SHANK3):c.3014C>T (p.Pro1005Leu) rs2083276245
NM_001372044.2(SHANK3):c.3226G>A (p.Ala1076Thr) rs1555910078
NM_001374353.1(GLI2):c.1183-33G>A rs761748900
NM_001374353.1(GLI2):c.198G>A (p.Met66Ile) rs2104869716
NM_001374353.1(GLI2):c.3297C>G (p.Asn1099Lys) rs368638181
NM_001374353.1(GLI2):c.3810A>C (p.Glu1270Asp) rs2105094470
NM_001374353.1(GLI2):c.56T>A (p.Ile19Asn) rs750880487
NM_001374623.1(PNPLA1):c.1300del (p.Ala434fs) rs753687060
NM_001374828.1(ARID1B):c.1051TCCGCC[1] (p.351SA[1]) rs1562376911
NM_001374828.1(ARID1B):c.1132T>G (p.Cys378Gly) rs2114986662
NM_001374828.1(ARID1B):c.1942C>T (p.Arg648Trp) rs143370913
NM_001374828.1(ARID1B):c.2073dup (p.His692fs) rs2128210922
NM_001374828.1(ARID1B):c.2899G>A (p.Gly967Arg) rs1554226059
NM_001374828.1(ARID1B):c.2980T>C (p.Ser994Pro) rs1789987002
NM_001374828.1(ARID1B):c.3179T>A (p.Met1060Lys) rs2128290781
NM_001374828.1(ARID1B):c.4150C>T (p.Gln1384Ter) rs1182325800
NM_001374828.1(ARID1B):c.4573G>A (p.Glu1525Lys) rs1554235555
NM_001374828.1(ARID1B):c.506ACCACCACCATGCCCACCACC[1] (p.169HHHHAHH[1]) rs767952510
NM_001374828.1(ARID1B):c.7004G>T (p.Arg2335Leu) rs146468586
NM_001375405.1(CEP120):c.50-2113_206+103del
NM_001375505.1(MAP2):c.2227del (p.Asp743fs) rs2153720936
NM_001375505.1(MAP2):c.5144G>A (p.Arg1715His) rs1166578294
NM_001375524.1(TRRAP):c.5779G>A (p.Val1927Ile) rs1791536912
NM_001375524.1(TRRAP):c.9172A>T (p.Ser3058Cys) rs2116765713
NM_001375524.1(TRRAP):c.9500G>A (p.Arg3167Gln) rs1245057200
NM_001375978.1(CHRM3):c.-313+2514G>A rs2148424892
NM_001376.5(DYNC1H1):c.11806G>A (p.Val3936Met) rs780676515
NM_001376.5(DYNC1H1):c.1273G>T (p.Asp425Tyr) rs2141272504
NM_001376.5(DYNC1H1):c.13855A>G (p.Ile4619Val) rs879254286
NM_001376.5(DYNC1H1):c.1739A>C (p.Glu580Ala) rs2141274671
NM_001376.5(DYNC1H1):c.4603G>A (p.Asp1535Asn) rs2503733689
NM_001376.5(DYNC1H1):c.5182G>A (p.Gly1728Ser) rs77319596
NM_001376.5(DYNC1H1):c.568G>A (p.Glu190Lys) rs1566996419
NM_001376.5(DYNC1H1):c.7262C>T (p.Thr2421Met) rs770803375
NM_001376.5(DYNC1H1):c.7438C>G (p.Pro2480Ala) rs1018948570
NM_001376.5(DYNC1H1):c.83C>G (p.Ser28Trp) rs765882472
NM_001376.5(DYNC1H1):c.8606G>T (p.Arg2869Leu) rs776582823
NM_001376.5(DYNC1H1):c.9436A>G (p.Ser3146Gly) rs2048470658
NM_001376922.1(TPBG):c.351_374del (p.Ala118_Leu125del) rs2127872441
NM_001378026.1(NBEAL1):c.7934+1G>A rs2065777024
NM_001378034.2(SNX25):c.1396G>T (p.Gly466Ter) rs147560595
NM_001378120.1(MBD5):c.136T>C (p.Cys46Arg) rs139186486
NM_001378120.1(MBD5):c.2237C>G (p.Ser746Cys) rs2105641052
NM_001378183.1(PIEZO2):c.7037T>G (p.Phe2346Cys) rs2510272413
NM_001378183.1(PIEZO2):c.71C>T (p.Ala24Val) rs759000106
NM_001378418.1(TCF20):c.1121C>T (p.Ala374Val) rs2147218583
NM_001378418.1(TCF20):c.256G>A (p.Ala86Thr) rs796233796
NM_001378418.1(TCF20):c.3496T>C (p.Ser1166Pro) rs867811393
NM_001378418.1(TCF20):c.4237_4241delinsCAGCT (p.Ala1413_Ser1414delinsGlnLeu) rs1920947705
NM_001378418.1(TCF20):c.565C>T (p.Gln189Ter) rs2147221870
NM_001378452.1(ITPR1):c.1084A>G (p.Asn362Asp) rs2093756579
NM_001378452.1(ITPR1):c.1127G>C (p.Arg376Pro) rs1260045423
NM_001378452.1(ITPR1):c.4243A>T (p.Ile1415Phe) rs762136714
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro) rs2125272771
NM_001378454.1(ALMS1):c.10384+1632G>A rs2466412629
NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala) rs2466444489
NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr) rs1674969661
NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn) rs2466543242
NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle) rs769291842
NM_001378454.1(ALMS1):c.2966A>G (p.Asp989Gly) rs2466096443
NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val) rs1671019662
NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys) rs2466104665
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp) rs938557636
NM_001378454.1(ALMS1):c.5933C>G (p.Thr1978Ser) rs1558650648
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr) rs1572937937
NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro) rs2466109901
NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu) rs142904692
NM_001378454.1(ALMS1):c.7273T>G (p.Ser2425Ala) rs2466111954
NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys) rs200039849
NM_001378454.1(ALMS1):c.8597A>C (p.Lys2866Thr) rs2466216682
NM_001378454.1(ALMS1):c.9709C>T (p.Leu3237=) rs2466303828
NM_001378457.1(DMXL2):c.358C>T (p.Pro120Ser) rs2050187178
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys) rs1716561509
NM_001378615.1(CC2D2A):c.[1880G>A;2206A>T]
NM_001379029.1(CERT1):c.-121del rs893362976
NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala) rs1580752093
NM_001379110.1(SLC9A6):c.1814A>T (p.Asp605Val) rs1556623185
NM_001379110.1(SLC9A6):c.825C>G (p.Phe275Leu) rs797044779
NM_001379200.1(TBX1):c.1149_1150insAGGGCCGGC (p.Pro383_Gly384insArgAlaGly) rs1192078635
NM_001379200.1(TBX1):c.1459A>T (p.Met487Leu) rs1936874664
NM_001379200.1(TBX1):c.623C>T (p.Ser208Leu) rs1936759742
NM_001379291.1(BRD4):c.629C>G (p.Thr210Ser) rs745976416
NM_001379291.1(BRD4):c.710_711del (p.Pro237fs) rs2047523428
NM_001379403.1(WDR26):c.1355C>T (p.Thr452Met) rs532004418
NM_001379403.1(WDR26):c.1796C>T (p.Thr599Ile) rs1265462349
NM_001379451.1(BCORL1):c.3401C>A (p.Pro1134Gln) rs1929425543
NM_001379500.1(COL18A1):c.107-11987C>A rs757523045
NM_001379500.1(COL18A1):c.2956C>T (p.Pro986Ser) rs753873000
NM_001379659.1(ZNF142):c.3787dup (p.Gln1263fs) rs750239776
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382422.1(EXOC3L2):c.1972dup (p.Gln658fs) rs2513866462
NM_001382567.1(STIM1):c.386-7164T>A rs2094210478
NM_001382637.1(OTUD7A):c.2647G>C (p.Gly883Arg) rs2141058802
NM_001384125.1(BLTP1):c.2209_2247+201dup rs2149866887
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001385012.1(NBEA):c.1651T>G (p.Phe551Val) rs2065444611
NM_001385012.1(NBEA):c.1978A>G (p.Ser660Gly) rs2152659253
NM_001385012.1(NBEA):c.2002+2530C>T rs2066319930
NM_001385012.1(NBEA):c.2743A>C (p.Met915Leu) rs2152709075
NM_001385012.1(NBEA):c.3484C>T (p.Leu1162Phe) rs772494015
NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu) rs2069582666
NM_001385012.1(NBEA):c.4406G>A (p.Arg1469Gln) rs2070454395
NM_001385012.1(NBEA):c.4796A>G (p.Asn1599Ser) rs2152730933
NM_001385012.1(NBEA):c.5172A>C (p.Glu1724Asp) rs2152741962
NM_001385012.1(NBEA):c.6304+1460T>G rs1047295648
NM_001385012.1(NBEA):c.7494C>G (p.Ile2498Met) rs745924046
NM_001385012.1(NBEA):c.8861T>C (p.Ile2954Thr) rs962193733
NM_001385079.1(PDE10A):c.3128C>A (p.Ser1043Tyr) rs1781435066
NM_001386135.1(AFF3):c.311C>T (p.Pro104Leu) rs2104740337
NM_001386135.1(AFF3):c.53+41939G>A rs1687368963
NM_001386140.1(MTTP):c.1139A>T (p.Asp380Val) rs751048376
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met) rs1725996011
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn) rs2476164723
NM_001386298.1(CIC):c.1736C>G (p.Ser579Ter) rs2147020089
NM_001386298.1(CIC):c.1785C>A (p.Asp595Glu) rs975540618
NM_001386298.1(CIC):c.4277C>G (p.Pro1426Arg) rs1227518171
NM_001386298.1(CIC):c.4652G>T (p.Gly1551Val) rs2038023932
NM_001386298.1(CIC):c.7195A>G (p.Thr2399Ala) rs2147353869
NM_001386863.1(ACIN1):c.1831A>G (p.Thr611Ala) rs2503379870
NM_001387690.1(KATNAL2):c.1606G>A (p.Glu536Lys) rs762261015
NM_001388185.1(JADE2):c.1644dup (p.Val549fs) rs2150026051
NM_001389.5(DSCAM):c.2046C>G (p.Ser682Arg) rs2074144975
NM_001389.5(DSCAM):c.937C>T (p.Pro313Ser) rs753192585
NM_001393769.1(MED12L):c.2102G>A (p.Cys701Tyr) rs777877551
NM_001393769.1(MED12L):c.2251-4T>A rs772875779
NM_001393769.1(MED12L):c.5597C>T (p.Ser1866Phe) rs367692964
NM_001393769.1(MED12L):c.6322C>T (p.Pro2108Ser) rs1279239457
NM_001394062.1(MACF1):c.12301C>G (p.Leu4101Val) rs138390862
NM_001394062.1(MACF1):c.13272C>A (p.Cys4424Ter) rs1028771268
NM_001394062.1(MACF1):c.15561AGA[2] (p.Glu5190del) rs2148568956
NM_001394062.1(MACF1):c.18092G>A (p.Cys6031Tyr) rs1644015557
NM_001394062.1(MACF1):c.19636A>G (p.Thr6546Ala) rs1644253764
NM_001394062.1(MACF1):c.20591G>A (p.Arg6864Gln) rs1399990361
NM_001394067.2(RAPGEF2):c.819G>C (p.Glu273Asp) rs1764342195
NM_001394073.1(HS6ST2):c.67G>T (p.Val23Phe) rs1276990594
NM_001394372.1(BICRA):c.2370C>G (p.His790Gln) rs2123605781
NM_001394998.1(TANC2):c.*3034T>C rs2147457797
NM_001394998.1(TANC2):c.1808del (p.Glu603fs) rs2510080382
NM_001394998.1(TANC2):c.323-24667_323-24660del rs2145183829
NM_001394998.1(TANC2):c.3453G>C (p.Gln1151His) rs2048465506
NM_001394998.1(TANC2):c.5247_5249del (p.Gly1750del) rs1413609915
NM_001395891.1(CLASP1):c.196-570C>T rs750325275
NM_001429.4(EP300):c.2960C>T (p.Pro987Leu) rs2145740050
NM_001429.4(EP300):c.301G>A (p.Gly101Ser) rs762557708
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg) rs2145762737
NM_001429.4(EP300):c.4432C>T (p.Arg1478Cys) rs1445337631
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg) rs748325077
NM_001451.3(FOXF1):c.802_805del (p.Ala268fs) rs2507451417
NM_001457.4(FLNB):c.1346-2A>G rs757004353
NM_001457.4(FLNB):c.6866G>A (p.Arg2289His) rs1033252725
NM_001457.4(FLNB):c.7351C>G (p.Leu2451Val) rs2107340030
NM_001458.5(FLNC):c.2917G>A (p.Gly973Ser) rs2128936113
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met) rs374848954
NM_001466.4(FZD2):c.400G>C (p.Glu134Gln) rs1248571035
NM_001482.3(GATM):c.297A>G (p.Thr99=) rs1445305823
NM_001543.5(NDST1):c.176C>G (p.Pro59Arg) rs559367014
NM_001609.4(ACADSB):c.682-349C>A rs1850491397
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn) rs587777388
NM_001680.5(FXYD2):c.25G>T (p.Gly9Cys) rs2134106055
NM_001690.4(ATP6V1A):c.1337C>T (p.Pro446Leu) rs2108040667
NM_001690.4(ATP6V1A):c.1532T>C (p.Val511Ala) rs1709240005
NM_001690.4(ATP6V1A):c.248G>A (p.Gly83Asp) rs1709013687
NM_001727.2(BRS3):c.463C>T (p.Arg155Ter) rs2148517068
NM_001750.7(CAST):c.1200+911C>A rs571475869
NM_001750.7(CAST):c.587G>T (p.Ser196Ile) rs374113792
NM_001753.5(CAV1):c.30G>C (p.Glu10Asp) rs2115921451
NM_001794.5(CDH4):c.1835C>T (p.Ala612Val) rs951281332
NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs) rs2490435311
NM_001807.6(CEL):c.1427A>G (p.Gln476Arg) rs201074543
NM_001830.4(CLCN4):c.2038C>A (p.Pro680Thr) rs142375213
NM_001830.4(CLCN4):c.944G>A (p.Arg315His) rs1374813094
NM_001844.5(COL2A1):c.1057G>T (p.Ala353Ser) rs781554389
NM_001845.6(COL4A1):c.1121-986C>T rs2139188713
NM_001845.6(COL4A1):c.1748G>A (p.Gly583Glu) rs2139173408
NM_001845.6(COL4A1):c.2347G>A (p.Glu783Lys) rs1878019123
NM_001845.6(COL4A1):c.2705C>G (p.Pro902Arg) rs146134172
NM_001846.4(COL4A2):c.2269C>T (p.Pro757Ser) rs1882537795
NM_001846.4(COL4A2):c.3094A>G (p.Ile1032Val) rs2139529268
NM_001846.4(COL4A2):c.4453A>G (p.Ser1485Gly) rs753103440
NM_001846.4(COL4A2):c.49C>G (p.Leu17Val) rs200430407
NM_001846.4(COL4A2):c.670C>G (p.Pro224Ala) rs1240828595
NM_001854.4(COL11A1):c.1351-1G>A rs1666692498
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val) rs2101679210
NM_001854.4(COL11A1):c.3511G>C (p.Gly1171Arg) rs2524688590
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile) rs150463750
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs) rs1553632361
NM_001943.5(DSG2):c.2990del (p.Gly997fs) rs1252426323
NM_001961.4(EEF2):c.1039G>A (p.Gly347Arg) rs2145361569
NM_001961.4(EEF2):c.949_950delinsAG (p.Glu317Arg) rs2145362551
NM_001967.4(EIF4A2):c.1004G>A (p.Arg335His) rs2473976506
NM_001999.4(FBN2):c.6620C>T (p.Thr2207Ile) rs2479677753
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002025.4(AFF2):c.48-60738G>C rs2124372407
NM_002069.6(GNAI1):c.807C>G (p.Asn269Lys) rs1277446306
NM_002074.5(GNB1):c.*1316G>C rs1646396861
NM_002074.5(GNB1):c.431-4668T>C rs2100607979
NM_002087.4(GRN):c.328C>T (p.Arg110Ter) rs63750411
NM_002103.5(GYS1):c.1432C>T (p.His478Tyr) rs2038611813
NM_002128.7(HMGB1):c.581_582del (p.Glu194fs) rs2137392488
NM_002161.6(IARS1):c.3688A>G (p.Asn1230Asp) rs1839822983
NM_002230.4(JUP):c.135G>C (p.Glu45Asp) rs2143735253
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002241.5(KCNJ10):c.143G>C (p.Arg48Pro) rs201907875
NM_002241.5(KCNJ10):c.536T>A (p.Ile179Asn) rs2101924903
NM_002249.6(KCNN3):c.1701+3059C>T rs1700385787
NM_002249.6(KCNN3):c.2080G>A (p.Glu694Lys) rs2101754269
NM_002293.4(LAMC1):c.1021+1G>A rs112972320
NM_002296.4(LBR):c.1034A>G (p.Tyr345Cys) rs2096107960
NM_002303.6(LEPR):c.1012C>A (p.Pro338Thr) rs1557688429
NM_002334.4(LRP4):c.5438T>C (p.Ile1813Thr) rs991397044
NM_002340.6(LSS):c.1194G>A (p.Glu398=) rs2123731194
NM_002340.6(LSS):c.22C>G (p.Arg8Gly) rs2123773478
NM_002361.4(MAG):c.562C>T (p.Arg188Trp) rs2145611265
NM_002397.5(MEF2C):c.-142-25787T>G rs2153377579
NM_002397.5(MEF2C):c.196C>G (p.Leu66Val) rs1799641525
NM_002430.3(MN1):c.2211G>A (p.Thr737=) rs1210433639
NM_002430.3(MN1):c.2612C>T (p.Ala871Val) rs776690759
NM_002454.3(MTRR):c.1977T>G (p.Asp659Glu) rs751318676
NM_002461.3(MVD):c.1013+5G>T rs750734627
NM_002468.5(MYD88):c.-24_-6del rs746651350
NM_002468.5(MYD88):c.103_104del (p.Leu35fs) rs776336832
NM_002470.4(MYH3):c.3125A>G (p.Glu1042Gly) rs2074245603
NM_002471.4(MYH6):c.5803dup (p.Met1935fs) rs768525215
NM_002473.6(MYH9):c.2161_2165del rs2517975739
NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del) rs1353636692
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg) rs760908992
NM_002474.3(MYH11):c.791-6A>G rs1264372928
NM_002582.4(PARN):c.918+5G>A rs2507959298
NM_002641.4(PIGA):c.1369G>A (p.Ala457Thr) rs1440750558
NM_002658.6(PLAU):c.467dup (p.Pro157fs) rs1435611170
NM_002661.5(PLCG2):c.2418-694C>G rs901895283
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002693.3(POLG):c.316C>T (p.His106Tyr) rs2055622693
NM_002715.4(PPP2CA):c.102+1493C>G rs1362511308
NM_002715.4(PPP2CA):c.102+7294T>C rs1762366611
NM_002742.3(PRKD1):c.442G>A (p.Ala148Thr) rs1249972372
NM_002775.5(HTRA1):c.283G>T (p.Val95Leu) rs2133905276
NM_002816.5(PSMD12):c.1272A>T (p.Leu424Phe) rs2143677818
NM_002830.4(PTPN4):c.2491C>A (p.Leu831Ile) rs1679434397
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002839.4(PTPRD):c.4078G>A (p.Glu1360Lys) rs888423638
NM_002860.4(ALDH18A1):c.89-1G>C rs2139642879
NM_002880.4(RAF1):c.1922C>G (p.Thr641Arg) rs587777587
NM_002880.4(RAF1):c.325_327del (p.Lys109del) rs1418886913
NM_002890.3(RASA1):c.285_305del (p.93AGVAGAA[1]) rs745572583
NM_002958.4(RYK):c.355-4703C>G rs2472778738
NM_002968.3(SALL1):c.424G>C (p.Gly142Arg) rs553871743
NM_002971.6(SATB1):c.468G>C (p.Met156Ile) rs1698096497
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003011.4(SET):c.670G>A (p.Asp224Asn) rs2132255761
NM_003031.4(SIAH1):c.361dup (p.Cys121fs) rs2544514083
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg) rs2100925789
NM_003041.4(SLC5A2):c.673G>A (p.Gly225Arg) rs145957533
NM_003042.4(SLC6A1):c.1012A>T (p.Ile338Phe) rs2124926302
NM_003042.4(SLC6A1):c.1377C>G (p.Ser459Arg) rs1064795099
NM_003042.4(SLC6A1):c.1477T>C (p.Cys493Arg) rs2124942534
NM_003042.4(SLC6A1):c.97A>G (p.Lys33Glu) rs1334690406
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His) rs767337086
NM_003070.5(SMARCA2):c.3763-1230G>C rs1453505894
NM_003070.5(SMARCA2):c.4696G>C (p.Val1566Leu) rs1827870545
NM_003072.5(SMARCA4):c.3383-36C>T rs2146595699
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val) rs1600388982
NM_003072.5(SMARCA4):c.4732G>C (p.Glu1578Gln) rs1555795999
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys) rs886039520
NM_003079.5(SMARCE1):c.370-10T>C rs763801620
NM_003091.4(SNRPB):c.267+4dup rs2514423027
NM_003107.3(SOX4):c.149G>C (p.Ser50Thr) rs749184422
NM_003107.3(SOX4):c.322_323insA (p.Phe108fs) rs1763101563
NM_003107.3(SOX4):c.499_500insCGG (p.His166_Gly167insAla) rs542004893
NM_003108.4(SOX11):c.1153G>A (p.Ala385Thr) rs2103277224
NM_003108.4(SOX11):c.727C>G (p.Pro243Ala) rs771639613
NM_003124.5(SPR):c.10G>A (p.Gly4Arg) rs2105239914
NM_003126.4(SPTA1):c.3331G>A (p.Asp1111Asn) rs760205675
NM_003172.4(SURF1):c.549_566del (p.Arg184_Pro189del) rs1836463353
NM_003183.6(ADAM17):c.1495G>A (p.Asp499Asn) rs774191569
NM_003200.5(TCF3):c.955+204G>A rs372121697
NM_003242.6(TGFBR2):c.1386T>G (p.Asn462Lys) rs2125439408
NM_003280.3(TNNC1):c.212C>T (p.Thr71Met) rs1706331809
NM_003381.4(VIP):c.49A>T (p.Ser17Cys) rs2129074119
NM_003403.5(YY1):c.608A>G (p.Lys203Arg) rs1890700748
NM_003412.4(ZIC1):c.1117C>A (p.His373Asn) rs2107994263
NM_003413.4(ZIC3):c.1103del (p.Arg368fs) rs2124185586
NM_003470.3(USP7):c.3111+8G>T rs112094515
NM_003470.3(USP7):c.852-4A>G rs1264253074
NM_003482.4(KMT2D):c.12673C>G (p.Leu4225Val) rs949941431
NM_003482.4(KMT2D):c.14468C>T (p.Pro4823Leu) rs1942697370
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala) rs772169265
NM_003482.4(KMT2D):c.3734C>G (p.Ser1245Cys) rs2120641688
NM_003482.4(KMT2D):c.3898A>G (p.Ile1300Val) rs2120638267
NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln) rs202217665
NM_003482.4(KMT2D):c.7484C>T (p.Pro2495Leu) rs2120525921
NM_003482.4(KMT2D):c.8102G>A (p.Arg2701Gln) rs1943386777
NM_003482.4(KMT2D):c.9302C>T (p.Pro3101Leu) rs1271758887
NM_003491.4(NAA10):c.418G>T (p.Asp140Tyr) rs2148534337
NM_003491.4(NAA10):c.472-38C>G rs2065158858
NM_003500.4(ACOX2):c.461_464del (p.Thr154fs) rs34391522
NM_003619.4(PRSS12):c.19G>A (p.Val7Met) rs148007619
NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg) rs900654745
NM_003718.5(CDK13):c.1401_1418dup (p.Ala471_Ala476dup) rs749812196
NM_003718.5(CDK13):c.1497C>A (p.Asn499Lys) rs1258709717
NM_003718.5(CDK13):c.218C>T (p.Ala73Val) rs1021210496
NM_003718.5(CDK13):c.4249A>G (p.Met1417Val) rs1702593014
NM_003730.6(RNASET2):c.148-1G>T rs2128646702
NM_003754.3(EIF3F):c.653+3G>T rs200275224
NM_003801.4(GPAA1):c.1051G>C (p.Glu351Gln) rs2129945017
NM_003896.4(ST3GAL5):c.1247G>A (p.Arg416His) rs200683924
NM_003919.3(SGCE):c.110-9608G>A rs2117037022
NM_003922.4(HERC1):c.8639A>C (p.His2880Pro) rs765979907
NM_003931.3(WASF1):c.1466C>G (p.Ser489Ter) rs2114445929
NM_004004.6(GJB2):c.187G>T (p.Val63Leu) rs370696868
NM_004004.6(GJB2):c.35G>T (p.Gly12Val) rs1801002
NM_004035.7(ACOX1):c.1504C>G (p.Leu502Val) rs2065754693
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004098.4(EMX2):c.112T>C (p.Tyr38His) rs1846522635
NM_004098.4(EMX2):c.161CCG[8] (p.Ala58_Ala59dup) rs756693906
NM_004098.4(EMX2):c.231C>G (p.His77Gln) rs1846525919
NM_004098.4(EMX2):c.260C>T (p.Pro87Leu) rs754788682
NM_004104.5(FASN):c.3032C>T (p.Ala1011Val) rs1474143797
NM_004104.5(FASN):c.658_659delinsTACTGCC (p.Asn220fs) rs2144807148
NM_004113.6(FGF12):c.125-3181A>G rs1577367655
NM_004113.6(FGF12):c.14-47649A>G rs2108776132
NM_004113.6(FGF12):c.491G>A (p.Ser164Asn) rs2108576388
NM_004172.5(SLC1A3):c.830C>G (p.Ala277Gly) rs1742246958
NM_004187.5(KDM5C):c.2329G>C (p.Val777Leu) rs2073052954
NM_004187.5(KDM5C):c.2674G>A (p.Ala892Thr) rs2146839898
NM_004187.5(KDM5C):c.3758C>T (p.Pro1253Leu) rs2146821316
NM_004187.5(KDM5C):c.865A>G (p.Lys289Glu) rs782081983
NM_004218.4(RAB11B):c.236+414C>T rs2145511853
NM_004218.4(RAB11B):c.85T>C (p.Ser29Pro) rs2512745114
NM_004247.4(EFTUD2):c.63A>T (p.Glu21Asp) rs2051340680
NM_004247.4(EFTUD2):c.698A>G (p.Glu233Gly) rs2145532453
NM_004274.5(AKAP6):c.4806del (p.Tyr1603fs) rs2034558934
NM_004279.3(PMPCB):c.32C>A (p.Ser11Ter) rs760746927
NM_004284.6(CHD1L):c.459T>G (p.Tyr153Ter) rs1669968602
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp) rs1554400237
NM_004341.5(CAD):c.3721del (p.Val1241fs) rs2148080342
NM_004369.4(COL6A3):c.761del (p.Gly254fs) rs780921503
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu) rs1765724096
NM_004380.3(CREBBP):c.1941+8G>A rs761673254
NM_004380.3(CREBBP):c.2036T>C (p.Leu679Ser) rs1451697093
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys) rs1596895058
NM_004380.3(CREBBP):c.3779+1G>C rs587783483
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn) rs2052155279
NM_004380.3(CREBBP):c.5844_5846dup (p.Ala1949dup) rs2151307787
NM_004380.3(CREBBP):c.6195C>A (p.Ser2065Arg) rs374150949
NM_004380.3(CREBBP):c.6559C>T (p.Pro2187Ser) rs2151303211
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu) rs1239213391
NM_004387.4(NKX2-5):c.886G>A (p.Gly296Ser) rs1358735679
NM_004397.6(DDX6):c.-268+1_-268+23del rs2137582714
NM_004398.4(DDX10):c.1609G>A (p.Ala537Thr) rs779168659
NM_004415.2(DSP):c.5671_*835+957del4738insAGAACAGTCTT
NM_004415.4(DSP):c.170+2341A>G rs745407870
NM_004415.4(DSP):c.3667G>A (p.Glu1223Lys) rs2533925154
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.7293_7296del (p.Glu2431fs) rs2533944959
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly) rs146937374
NM_004444.5(EPHB4):c.2044G>A (p.Val682Met) rs2116431583
NM_004456.5(EZH2):c.1579C>A (p.Pro527Thr) rs2129470135
NM_004462.5(FDFT1):c.899T>A (p.Leu300Ter) rs1810791017
NM_004463.3(FGD1):c.277dup (p.Tyr93fs) rs1557191567
NM_004493.3(HSD17B10):c.164G>A (p.Gly55Glu) rs2075834227
NM_004517.4(ILK):c.590C>T (p.Thr197Met) rs767383055
NM_004519.4(KCNQ3):c.386+67111C>T rs2130799710
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004522.3(KIF5C):c.952C>A (p.Leu318Met) rs2105113901
NM_004525.3(LRP2):c.1140G>T (p.Glu380Asp) rs529409328
NM_004525.3(LRP2):c.169G>T (p.Ala57Ser) rs147295930
NM_004525.3(LRP2):c.2263A>G (p.Ile755Val) rs1574205586
NM_004525.3(LRP2):c.2989G>C (p.Val997Leu) rs1690028908
NM_004525.3(LRP2):c.4075G>A (p.Gly1359Ser) rs2105381302
NM_004525.3(LRP2):c.80-7A>G rs2105516399
NM_004539.4(NARS1):c.646G>T (p.Ala216Ser) rs2122431389
NM_004586.3(RPS6KA3):c.118C>G (p.Pro40Ala) rs2148784759
NM_004667.6(HERC2):c.1168C>T (p.Arg390Ter) rs756221917
NM_004667.6(HERC2):c.13279C>T (p.Arg4427Ter) rs1224448657
NM_004667.6(HERC2):c.13438G>A (p.Gly4480Ser) rs2142056746
NM_004714.3(DYRK1B):c.1285G>C (p.Gly429Arg) rs529074049
NM_004714.3(DYRK1B):c.1627C>T (p.Pro543Ser) rs752860992
NM_004736.4(XPR1):c.1093A>T (p.Thr365Ser) rs141311408
NM_004758.4(TSPOAP1):c.2179C>G (p.Leu727Val) rs138739517
NM_004782.4(SNAP29):c.354dup (p.Leu119fs) rs751575036
NM_004818.3(DDX23):c.1361C>T (p.Thr454Ile) rs2137484031
NM_004836.7(EIF2AK3):c.3100G>A (p.Val1034Ile) rs374423016
NM_004840.3(ARHGEF6):c.1943A>G (p.Lys648Arg) rs375084147
NM_004855.5(PIGB):c.795-1G>C rs1163732372
NM_004859.4(CLTC):c.2282A>G (p.Asn761Ser) rs771059610
NM_004859.4(CLTC):c.3239C>A (p.Ser1080Ter) rs2143591718
NM_004933.3(CDH15):c.2071G>T (p.Ala691Ser) rs2151605313
NM_004933.3(CDH15):c.2218G>C (p.Glu740Gln) rs139669848
NM_004933.3(CDH15):c.607A>T (p.Ser203Cys) rs1725146797
NM_004958.4(MTOR):c.1816T>C (p.Cys606Arg) rs2100901805
NM_004958.4(MTOR):c.4128T>G (p.Asp1376Glu) rs975577894
NM_004958.4(MTOR):c.4360C>T (p.His1454Tyr) rs2100568346
NM_004958.4(MTOR):c.6210dup (p.Asn2071Ter) rs2100406692
NM_004958.4(MTOR):c.6962C>G (p.Thr2321Ser) rs1642202172
NM_004959.5(NR5A1):c.841C>T (p.Arg281Cys) rs2538683564
NM_004961.4(GABRE):c.1177C>T (p.Arg393Cys) rs753240533
NM_004973.4(JARID2):c.2941A>C (p.Ser981Arg) rs1771271618
NM_004973.4(JARID2):c.931C>G (p.Arg311Gly) rs911838647
NM_004974.4(KCNA2):c.1496T>C (p.Val499Ala) rs1017816495
NM_004975.4(KCNB1):c.2206dup (p.Arg736fs) rs759902465
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys) rs1984264748
NM_004975.4(KCNB1):c.916C>T (p.Arg306Cys) rs1555889130
NM_004985.5(KRAS):c.58A>G (p.Thr20Ala) rs2135806003
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly) rs1384096624
NM_004991.4(MECOM):c.375+7162G>T rs1015020275
NM_004994.3(MMP9):c.1222G>A (p.Gly408Ser) rs2145454351
NM_004999.4(MYO6):c.917T>C (p.Met306Thr) rs2150278897
NM_005002.5(NDUFA9):c.938G>A (p.Trp313Ter) rs1945978807
NM_005026.5(PIK3CD):c.2764A>C (p.Lys922Gln) rs2101002894
NM_005045.4(RELN):c.2722C>A (p.Leu908Ile) rs767519770
NM_005045.4(RELN):c.5210T>C (p.Ile1737Thr) rs202116849
NM_005045.4(RELN):c.6146C>T (p.Ala2049Val) rs374232523
NM_005045.4(RELN):c.8063A>T (p.Asp2688Val) rs1829532646
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.9762A>C (p.Gln3254His) rs1758064181
NM_005051.3(QARS1):c.125A>C (p.Gln42Pro) rs546520104
NM_005051.3(QARS1):c.1270C>G (p.Pro424Ala) rs918533004
NM_005051.3(QARS1):c.781G>C (p.Gly261Arg) rs779251239
NM_005060.4(RORC):c.821_933+84del rs2525619003
NM_005068.3(SIM1):c.793_794del (p.Leu265fs) rs2482134518
NM_005070.4(SLC4A3):c.1456A>G (p.Lys486Glu) rs2469289045
NM_005076.5(CNTN2):c.1297G>T (p.Gly433Trp) rs571201763
NM_005076.5(CNTN2):c.931T>C (p.Ser311Pro) rs1064794428
NM_005120.3(MED12):c.1737del (p.Met580fs) rs2519674075
NM_005120.3(MED12):c.4413G>A (p.Lys1471=) rs2092320033
NM_005121.3(MED13):c.1568A>G (p.His523Arg) rs2080502273
NM_005188.4(CBL):c.1192C>T (p.His398Tyr) rs946817829
NM_005188.4(CBL):c.1744C>A (p.Pro582Thr) rs2135310666
NM_005188.4(CBL):c.2086G>C (p.Glu696Gln) rs539217274
NM_005188.4(CBL):c.444-6862G>A rs2135290907
NM_005235.3(ERBB4):c.1554C>G (p.Asp518Glu) rs1471389448
NM_005247.4(FGF3):c.269G>T (p.Gly90Val) rs2539180639
NM_005251.3(FOXC2):c.1105dup (p.Leu369fs) rs2507946080
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys) rs904551659
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu) rs2133792192
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met) rs2133874774
NM_005271.5(GLUD1):c.446-5634T>C rs1841280208
NM_005273.4(GNB2):c.1006C>G (p.Leu336Val) rs2131352509
NM_005321.3(H1-4):c.526G>T (p.Ala176Ser) rs1399451715
NM_005334.3(HCFC1):c.3257G>A (p.Gly1086Asp) rs2065362050
NM_005343.4(HRAS):c.-54+3G>A rs2539812507
NM_005360.5(MAF):c.224C>T (p.Ala75Val) rs1913879694
NM_005360.5(MAF):c.487G>C (p.Val163Leu) rs1913845255
NM_005360.5(MAF):c.860T>G (p.Ile287Ser) rs772989511
NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu) rs761831322
NM_005393.3(PLXNB3):c.220C>T (p.Leu74Phe) rs2148413029
NM_005413.4(SIX3):c.749T>C (p.Val250Ala) rs121917880
NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln) rs2134752688
NM_005458.8(GABBR2):c.*1906T>C rs1588081632
NM_005458.8(GABBR2):c.166C>G (p.Leu56Val) rs1830933309
NM_005476.7(GNE):c.700G>A (p.Glu234Lys) rs1424893200
NM_005477.3(HCN4):c.1573C>T (p.Arg525Cys) rs1429346819
NM_005477.3(HCN4):c.3392G>A (p.Ser1131Asn) rs1249032163
NM_005502.4(ABCA1):c.2005G>C (p.Glu669Gln) rs1356398820
NM_005502.4(ABCA1):c.4539T>A (p.Tyr1513Ter) rs1830613298
NM_005502.4(ABCA1):c.6113G>A (p.Gly2038Glu) rs2538036433
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005518.4(HMGCS2):c.1156dup (p.Leu386fs) rs1571033506
NM_005529.7(HSPG2):c.9900_9902dup (p.Ala3301dup) rs1345312289
NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile) rs1436851649
NM_005585.5(SMAD6):c.789del (p.Tyr264fs) rs1567092048
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005629.4(SLC6A8):c.627del (p.Val210fs) rs2148361177
NM_005633.4(SOS1):c.1074+1966C>G rs2124558711
NM_005633.4(SOS1):c.2930A>G (p.Gln977Arg) rs2124479522
NM_005633.4(SOS1):c.541G>A (p.Glu181Lys) rs1671148501
NM_005633.4(SOS1):c.743G>T (p.Arg248Leu) rs775052125
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005685.4(GTF2IRD1):c.1288C>T (p.Arg430Ter) rs782636289
NM_005739.4(RASGRP1):c.1199C>A (p.Ala400Asp) rs372045194
NM_005739.4(RASGRP1):c.1385C>T (p.Pro462Leu) rs1891112363
NM_005787.6(ALG3):c.199A>C (p.Thr67Pro) rs1719117803
NM_005826.5(HNRNPR):c.1769A>T (p.Asn590Ile) rs760744112
NM_005862.3(STAG1):c.1056A>T (p.Lys352Asn) rs2107814357
NM_005862.3(STAG1):c.2196+4167T>G rs2107715024
NM_005862.3(STAG1):c.298-8776C>T rs1190662692
NM_005862.3(STAG1):c.676+5379A>G rs2107894849
NM_005883.3(APC2):c.3011T>G (p.Leu1004Arg) rs2084013732
NM_005885.4(MARCHF6):c.914-8C>G rs2126759091
NM_005898.5(CAPRIN1):c.2047C>A (p.Pro683Thr) rs376471525
NM_005909.5(MAP1B):c.3943G>A (p.Asp1315Asn) rs1747200699
NM_005909.5(MAP1B):c.397C>G (p.Arg133Gly) rs773674867
NM_005909.5(MAP1B):c.5999C>T (p.Thr2000Ile) rs113459978
NM_005909.5(MAP1B):c.6324G>C (p.Glu2108Asp) rs888037943
NM_005909.5(MAP1B):c.6421C>T (p.Gln2141Ter) rs2111893851
NM_005912.3(MC4R):c.221A>T (p.Asn74Ile) rs2511560733
NM_005912.3(MC4R):c.895C>T (p.Pro299Ser) rs2511559991
NM_005918.4(MDH2):c.899A>G (p.Glu300Gly) rs2116708081
NM_005920.4(MEF2D):c.1235_1236del (p.Leu412fs) rs2101983171
NM_005982.4(SIX1):c.328C>G (p.Arg110Gly) rs80356459
NM_006005.3(WFS1):c.158G>C (p.Gly53Ala) rs2109108045
NM_006005.3(WFS1):c.2101A>T (p.Thr701Ser) rs1578611960
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp) rs373310972
NM_006005.3(WFS1):c.578dup (p.Gln194fs) rs779272128
NM_006014.5(LAGE3):c.287A>T (p.Asp96Val) rs201041758
NM_006015.6(ARID1A):c.1015del (p.Ala339fs) rs1232964733
NM_006015.6(ARID1A):c.1126C>T (p.Arg376Trp) rs1018092020
NM_006015.6(ARID1A):c.1507C>T (p.Gln503Ter) rs2124788629
NM_006015.6(ARID1A):c.1517C>G (p.Ser506Cys) rs2124788689
NM_006015.6(ARID1A):c.2194C>A (p.Gln732Lys) rs1292150071
NM_006015.6(ARID1A):c.242G>A (p.Gly81Glu) rs1285265984
NM_006015.6(ARID1A):c.269G>C (p.Ser90Thr) rs2124741075
NM_006015.6(ARID1A):c.270CGG[4] (p.Gly93dup) rs2080258350
NM_006015.6(ARID1A):c.2852G>A (p.Gly951Asp) rs2081039231
NM_006015.6(ARID1A):c.5104A>G (p.Met1702Val) rs2081128316
NM_006015.6(ARID1A):c.5702G>A (p.Gly1901Glu) rs2124141958
NM_006015.6(ARID1A):c.764C>T (p.Ser255Phe) rs1240590332
NM_006030.4(CACNA2D2):c.1039C>T (p.Gln347Ter) rs2106661644
NM_006030.4(CACNA2D2):c.289-6424G>A rs552617472
NM_006030.4(CACNA2D2):c.785-3C>T rs1575604704
NM_006035.4(CDC42BPB):c.1016A>G (p.His339Arg) rs2139515520
NM_006035.4(CDC42BPB):c.2063C>T (p.Ser688Phe) rs1893332407
NM_006035.4(CDC42BPB):c.3749-2A>C rs2139369908
NM_006059.4(LAMC3):c.3211+2T>C rs2133322852
NM_006059.4(LAMC3):c.42_50dup (p.Pro15_Ala17dup) rs1057520165
NM_006060.6(IKZF1):c.161-15019A>G rs1805227150
NM_006078.5(CACNG2):c.669C>G (p.Ile223Met) rs758357916
NM_006078.5(CACNG2):c.859A>T (p.Thr287Ser) rs1935090362
NM_006160.4(NEUROD2):c.211G>A (p.Ala71Thr) rs537108143
NM_006180.6(NTRK2):c.1234A>G (p.Asn412Asp) rs201342791
NM_006180.6(NTRK2):c.1279G>T (p.Gly427Cys) rs142393662
NM_006180.6(NTRK2):c.1870G>C (p.Val624Leu) rs1194954580
NM_006201.5(CDK16):c.-6-416C>T rs1937418084
NM_006231.4(POLE):c.3245G>T (p.Arg1082Leu) rs201744227
NM_006231.4(POLE):c.4337_4338dup (p.Val1447fs) rs758487568
NM_006236.3(POU3F3):c.998G>C (p.Arg333Pro) rs2104340988
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys) rs863225082
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys) rs2130462808
NM_006267.5(RANBP2):c.7918C>A (p.Pro2640Thr) rs762433464
NM_006279.5(ST3GAL3):c.-31+9631T>C rs1163915476
NM_006279.5(ST3GAL3):c.1019G>A (p.Arg340His) rs2082916829
NM_006280.3(SSR4):c.194C>T (p.Ala65Val) rs781822476
NM_006295.3(VARS1):c.275C>G (p.Ala92Gly) rs144102783
NM_006311.4(NCOR1):c.4681C>T (p.Arg1561Trp) rs1215962055
NM_006311.4(NCOR1):c.5627G>C (p.Arg1876Thr) rs2060557128
NM_006366.3(CAP2):c.86C>A (p.Pro29His) rs2113531889
NM_006372.5(SYNCRIP):c.1561G>A (p.Ala521Thr) rs1805619034
NM_006372.5(SYNCRIP):c.47A>G (p.Asp16Gly) rs554052753
NM_006393.3(NEBL):c.1228-1338del rs1841465820
NM_006393.3(NEBL):c.1338+2377C>T rs370814791
NM_006393.3(NEBL):c.1444A>C (p.Ser482Arg) rs2491827078
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006412.4(AGPAT2):c.22G>A (p.Ala8Thr) rs769132436
NM_006412.4(AGPAT2):c.640AAG[2] (p.Lys216del) rs764787916
NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)
NM_006412.4(AGPAT2):c.788C>G (p.Pro263Arg) rs17848858
NM_006421.5(ARFGEF1):c.4156C>G (p.Leu1386Val) rs1368615255
NM_006469.5(IVNS1ABP):c.1910del (p.Thr637fs) rs1319848994
NM_006494.4(ERF):c.398C>T (p.Pro133Leu) rs2036411561
NM_006514.4(SCN10A):c.1052G>A (p.Arg351His) rs767987787
NM_006516.4(SLC2A1):c.18+5439G>T rs1570607542
NM_006517.5(SLC16A2):c.431-44029A>C rs1303981973
NM_006521.6(TFE3):c.44G>T (p.Ser15Ile) rs2147780092
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter) rs2109365845
NM_006565.4(CTCF):c.203C>G (p.Pro68Arg) rs752391941
NM_006565.4(CTCF):c.529A>G (p.Thr177Ala) rs1430339540
NM_006565.4(CTCF):c.615_618del (p.Lys206fs) rs1555534147
NM_006593.4(TBR1):c.358C>T (p.Pro120Ser) rs1559059936
NM_006593.4(TBR1):c.853C>G (p.Arg285Gly) rs754584509
NM_006618.5(KDM5B):c.133C>T (p.Pro45Ser) rs2102361277
NM_006618.5(KDM5B):c.1424T>C (p.Ile475Thr) rs1385915746
NM_006642.5(SDCCAG8):c.181G>T (p.Ala61Ser) rs149928402
NM_006662.3(SRCAP):c.3179T>G (p.Leu1060Arg) rs2053005047
NM_006662.3(SRCAP):c.9505G>C (p.Val3169Leu) rs2053202864
NM_006734.4(HIVEP2):c.-640-49334A>G rs2128419086
NM_006734.4(HIVEP2):c.4802A>T (p.His1601Leu) rs1775480229
NM_006734.4(HIVEP2):c.956T>G (p.Leu319Trp) rs373903307
NM_006757.4(TNNT3):c.188G>A (p.Arg63His) rs121434638
NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu) rs2150932891
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp) rs1240578716
NM_006767.4(LZTR1):c.438dup (p.Lys147fs) rs2147961992
NM_006767.4(LZTR1):c.895_898del (p.Phe299fs) rs1924613524
NM_006772.3(SYNGAP1):c.1586T>C (p.Ile529Thr) rs2151172455
NM_006772.3(SYNGAP1):c.1913+5G>A rs1761021575
NM_006772.3(SYNGAP1):c.2596G>A (p.Val866Ile) rs768878991
NM_006772.3(SYNGAP1):c.2854G>A (p.Gly952Ser) rs1038956173
NM_006772.3(SYNGAP1):c.295+1551G>A rs2151138610
NM_006772.3(SYNGAP1):c.3394T>C (p.Ser1132Pro) rs2151191235
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs) rs1554122458
NM_006772.3(SYNGAP1):c.3835G>A (p.Ala1279Thr) rs1165427519
NM_006846.4(SPINK5):c.1280del (p.Ser427fs) rs1753640069
NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys) rs2113105257
NM_006895.3(HNMT):c.137+2287G>A rs186485844
NM_006895.3(HNMT):c.475del (p.His159fs) rs765863580
NM_006901.4(MYO9A):c.1658G>A (p.Cys553Tyr) rs777351425
NM_006922.4(SCN3A):c.-50-2312T>C rs1690638367
NM_006922.4(SCN3A):c.1663C>A (p.Pro555Thr) rs2105833109
NM_006922.4(SCN3A):c.997G>T (p.Asp333Tyr) rs1689455424
NM_006939.4(SOS2):c.*234G>A rs2139461520
NM_006939.4(SOS2):c.164T>C (p.Leu55Pro) rs2139796125
NM_006939.4(SOS2):c.545G>T (p.Gly182Val) rs149487643
NM_006940.4:c.1489-7709_1771+1399del
NM_006940.6(SOX5):c.1017G>A (p.Gln339=) rs2138723102
NM_006940.6(SOX5):c.271-2781_481+537del
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly) rs368373337
NM_006950.3(SYN1):c.1158+8C>T rs2519686543
NM_006950.3(SYN1):c.435G>A (p.Gln145=) rs2147928661
NM_007027.4(TOPBP1):c.4007C>G (p.Ala1336Gly) rs377714715
NM_007050.6(PTPRT):c.4073G>C (p.Arg1358Pro) rs180871064
NM_007078.3(LDB3):c.1978+1184G>A rs2132490081
NM_007118.4(TRIO):c.2046+6G>T rs1741451308
NM_007118.4(TRIO):c.4978C>A (p.Leu1660Met) rs2152389359
NM_007118.4(TRIO):c.5056C>G (p.Leu1686Val) rs749494831
NM_007118.4(TRIO):c.8019+6T>G rs2126677662
NM_007118.4(TRIO):c.8383T>C (p.Phe2795Leu) rs944775553
NM_007192.4(SUPT16H):c.548T>C (p.Met183Thr) rs771105762
NM_007192.4(SUPT16H):c.832C>T (p.Arg278Cys) rs1470319697
NM_007247.6(SYNRG):c.2905G>A (p.Asp969Asn) rs2057829945
NM_007247.6(SYNRG):c.811A>G (p.Ile271Val) rs2060923641
NM_007294.4(BRCA1):c.1450G>T (p.Gly484Ter) rs80357304
NM_007294.4(BRCA1):c.4012A>T (p.Lys1338Ter) rs12946486
NM_007294.4(BRCA1):c.5153-2del rs273901746
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007357.3(COG2):c.1855C>T (p.Gln619Ter) rs1662986310
NM_007363.5(NONO):c.1394dup (p.Asn466fs) rs869025344
NM_012154.5(AGO2):c.899G>A (p.Ser300Asn) rs2132931555
NM_012156.2(EPB41L1):c.130T>C (p.Ser44Pro) rs2145899366
NM_012199.5(AGO1):c.1136G>A (p.Arg379His) rs2523867145
NM_012199.5(AGO1):c.1663C>G (p.Pro555Ala) rs1645687616
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met) rs2148725999
NM_012210.4(TRIM32):c.1294C>T (p.Leu432Phe) rs142997889
NM_012213.3(MLYCD):c.1077A>C (p.Glu359Asp) rs2151060004
NM_012213.3(MLYCD):c.[*130G>T;*220A>G*286G>T*504C>A*82C>G]
NM_012281.3(KCND2):c.1833C>A (p.Asp611Glu) rs751906335
NM_012309.5(SHANK2):c.1174+30434A>C rs2135521960
NM_012309.5(SHANK2):c.729C>A (p.Asn243Lys) rs1951573835
NM_012330.4(KAT6B):c.3341C>T (p.Thr1114Met) rs755451488
NM_012330.4(KAT6B):c.388G>A (p.Glu130Lys) rs2132074046
NM_012330.4(KAT6B):c.622-53842A>G rs2132837198
NM_012448.4(STAT5B):c.1208T>G (p.Met403Arg) rs2080181603
NM_012448.4(STAT5B):c.286-232C>T rs2080262047
NM_012452.3(TNFRSF13B):c.788C>T (p.Thr263Ile) rs986325158
NM_012464.5(TLL1):c.2993T>A (p.Ile998Lys) rs1408093373
NM_012479.4(YWHAG):c.80T>G (p.Met27Arg) rs2115666932
NM_013245.3(VPS4A):c.1107G>A (p.Met369Ile) rs1965527680
NM_013262.4(MYLIP):c.973del (p.His325fs) rs1759757779
NM_013266.4(CTNNA3):c.1009_1015del (p.Gln337fs) rs2547990130
NM_013266.4(CTNNA3):c.91A>G (p.Ile31Val) rs1383577407
NM_013266.4:c.1282-780_1531+54046del
NM_013266.4:c.1532_1884del
NM_013275.6(ANKRD11):c.-145+15205C>T rs2057211213
NM_013275.6(ANKRD11):c.-60+48691C>T rs2040104900
NM_013275.6(ANKRD11):c.1056C>G (p.Asp352Glu) rs149211555
NM_013275.6(ANKRD11):c.1357A>G (p.Lys453Glu) rs2151764903
NM_013275.6(ANKRD11):c.227-269A>G rs2151799587
NM_013275.6(ANKRD11):c.3653A>C (p.Lys1218Thr) rs2151753979
NM_013275.6(ANKRD11):c.3725C>T (p.Ala1242Val) rs2544236075
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.4265T>G (p.Leu1422Trp) rs2151750772
NM_013275.6(ANKRD11):c.4928C>A (p.Pro1643Gln) rs147690079
NM_013275.6(ANKRD11):c.5681C>G (p.Pro1894Arg) rs760261187
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.7114C>T (p.Arg2372Cys) rs1192971319
NM_013335.4(GMPPA):c.210del (p.Ala71fs) rs886037654
NM_013336.4(SEC61A1):c.616+7G>A rs775477059
NM_013382.7(POMT2):c.678G>A (p.Trp226Ter) rs778947923
NM_013436.5(NCKAP1):c.317A>G (p.His106Arg) rs2105876212
NM_013436.5(NCKAP1):c.684_687del (p.Gln228fs) rs2105868996
NM_013450.4(BAZ2B):c.1360del (p.Val454fs) rs2546860508
NM_013450.4(BAZ2B):c.2255+10A>G rs1302278630
NM_014000.3(VCL):c.1343T>C (p.Leu448Pro) rs2549223382
NM_014000.3(VCL):c.1379G>C (p.Arg460Pro) rs753026034
NM_014023.4(WDR37):c.1444G>C (p.Gly482Arg) rs1265219812
NM_014141.6(CNTNAP2):c.2384-4637del rs2116601181
NM_014141.6(CNTNAP2):c.3076G>A (p.Ala1026Thr) rs796052382
NM_014159.7(SETD2):c.1745T>C (p.Ile582Thr) rs2043159637
NM_014159.7(SETD2):c.3565A>T (p.Thr1189Ser) rs2043064109
NM_014159.7(SETD2):c.419G>A (p.Gly140Asp) rs2043233709
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014159.7(SETD2):c.5713G>A (p.Gly1905Ser) rs1490559790
NM_014159.7(SETD2):c.6110C>T (p.Thr2037Ile) rs914740277
NM_014159.7(SETD2):c.999T>G (p.Ser333Arg) rs765649664
NM_014225.6(PPP2R1A):c.1747C>A (p.Leu583Met) rs1379445826
NM_014271.4(IL1RAPL1):c.363-41213G>A rs1383210759
NM_014271.4(IL1RAPL1):c.448T>G (p.Tyr150Asp) rs1933918841
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del) rs878853282
NM_014413.4(EIF2AK1):c.1144A>G (p.Ile382Val) rs2128888556
NM_014423.4(AFF4):c.1520_1521delinsAT (p.Arg507His) rs2532477251
NM_014423.4(AFF4):c.2144T>C (p.Ile715Thr) rs755145233
NM_014423.4(AFF4):c.437G>T (p.Ser146Ile) rs758814088
NM_014491.4(FOXP2):c.2039C>T (p.Ala680Val) rs1442230907
NM_014494.4(TNRC6A):c.136AAG[1] (p.Lys47del) rs2151408186
NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del) rs537365761
NM_014502.5(PRPF19):c.1495C>T (p.Leu499Phe) rs2134854268
NM_014516.4(CNOT3):c.1424C>T (p.Ala475Val) rs1320270420
NM_014516.4(CNOT3):c.1606G>C (p.Ala536Pro) rs61743560
NM_014681.6(DHX34):c.2184C>G (p.His728Gln) rs79484248
NM_014681.6(DHX34):c.2219_2233dup (p.Arg740_Glu744dup) rs1970119935
NM_014698.3(TMEM63A):c.598G>A (p.Ala200Thr) rs2102629480
NM_014712.3(SETD1A):c.3536C>G (p.Pro1179Arg) rs768567614
NM_014714.4(IFT140):c.3176C>T (p.Ala1059Val) rs779603114
NM_014727.3(KMT2B):c.1115A>G (p.Glu372Gly) rs1969140079
NM_014727.3(KMT2B):c.3856A>T (p.Thr1286Ser) rs2146451086
NM_014727.3(KMT2B):c.5462C>G (p.Pro1821Arg) rs748336996
NM_014762.4(DHCR24):c.286G>C (p.Gly96Arg) rs2101578761
NM_014795.4(ZEB2):c.3574G>C (p.Asp1192His) rs1703125939
NM_014795.4(ZEB2):c.916G>A (p.Gly306Ser) rs113893117
NM_014905.5(GLS):c.1048AAT[1] (p.Asn351del) rs2124894695
NM_014905.5(GLS):c.704A>G (p.Tyr235Cys) rs112403775
NM_014920.5(CILK1):c.1670C>G (p.Pro557Arg) rs1248104200
NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter) rs2092414327
NM_014927.5(CNKSR2):c.2637GGA[5] (p.Glu885_Glu886del) rs770084913
NM_014975.3(MAST1):c.262C>T (p.Arg88Trp) rs2512521125
NM_014975.3(MAST1):c.2986G>A (p.Val996Ile) rs2145911339
NM_014991.6(WDFY3):c.4559T>A (p.Phe1520Tyr) rs1745325272
NM_014991.6(WDFY3):c.4828A>C (p.Asn1610His) rs2149434106
NM_014991.6(WDFY3):c.5402G>A (p.Cys1801Tyr) rs1741574781
NM_014991.6(WDFY3):c.6317C>G (p.Ala2106Gly) rs2149221110
NM_014991.6(WDFY3):c.6370A>G (p.Thr2124Ala) rs2149220704
NM_014991.6(WDFY3):c.9134C>G (p.Thr3045Ser) rs1729287990
NM_014991.6(WDFY3):c.9260G>T (p.Cys3087Phe) rs1397754824
NM_014991.6(WDFY3):c.9823+1507C>T rs2148768666
NM_015001.3(SPEN):c.3373G>C (p.Glu1125Gln) rs2148738737
NM_015001.3(SPEN):c.4909G>T (p.Val1637Phe) rs746087066
NM_015015.3(KDM4B):c.2440_2441+1del rs1231991589
NM_015030.2(FRYL):c.599_600del (p.Val200fs) rs2149267090
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) rs762175796
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg) rs1553252938
NM_015076.5(CDK19):c.457-3T>C rs2114758446
NM_015100.4(POGZ):c.2197G>A (p.Val733Ile) rs541476793
NM_015100.4(POGZ):c.2576_2599del (p.Gly859_His866del) rs1653635853
NM_015175.3(NBEAL2):c.368C>G (p.Pro123Arg) rs371460227
NM_015176.4(FBXO28):c.703T>C (p.Ser235Pro) rs2102635097
NM_015178.3(RHOBTB2):c.1150C>T (p.Arg384Cys) rs780271859
NM_015178.3(RHOBTB2):c.1488del (p.Gly497fs) rs1376454917
NM_015178.3(RHOBTB2):c.1541A>G (p.His514Arg) rs2128805194
NM_015178.3(RHOBTB2):c.978C>A (p.His326Gln) rs559073741
NM_015192.4(PLCB1):c.1573A>G (p.Met525Val) rs138851178
NM_015192.4(PLCB1):c.3390A>C (p.Glu1130Asp) rs1983687298
NM_015192.4(PLCB1):c.3525A>C (p.Glu1175Asp) rs1455824326
NM_015192.4(PLCB1):c.3635T>C (p.Phe1212Ser) rs202009902
NM_015202.5(KATNIP):c.700A>G (p.Ser234Gly) rs2142761867
NM_015213.4(DENND5A):c.2818G>A (p.Val940Ile) rs1444738863
NM_015215.4(CAMTA1):c.2867C>T (p.Ala956Val) rs1243877081
NM_015215.4(CAMTA1):c.4631G>A (p.Arg1544Gln) rs756980317
NM_015215.4(CAMTA1):c.4690-2A>G rs2523695759
NM_015215.4(CAMTA1):c.4990-3503A>C rs2150309041
NM_015215.4(CAMTA1):c.809C>T (p.Ala270Val) rs2149152505
NM_015215.4(CAMTA1):c.967C>G (p.Arg323Gly) rs377525481
NM_015267.4(CUX2):c.137T>C (p.Ile46Thr) rs371927310
NM_015267.4(CUX2):c.1481C>T (p.Pro494Leu) rs2136373221
NM_015267.4(CUX2):c.3133C>T (p.Pro1045Ser) rs759732385
NM_015275.3(WASHC4):c.1038+1G>T rs1881282106
NM_015326.5(SRGAP2):c.1015C>T (p.Pro339Ser) rs782657746
NM_015330.6(SPECC1L):c.2067_2071delinsTTGAAC (p.Ile690_Phe691delinsTer) rs2040777042
NM_015335.5(MED13L):c.3032A>G (p.Asp1011Gly) rs1878087235
NM_015335.5(MED13L):c.319dup (p.Glu107fs) rs2137899583
NM_015335.5(MED13L):c.4300G>A (p.Ala1434Thr) rs1363042572
NM_015335.5(MED13L):c.4618G>A (p.Ala1540Thr) rs2137275405
NM_015335.5(MED13L):c.4745C>A (p.Ser1582Tyr) rs748040838
NM_015338.6(ASXL1):c.2029C>T (p.Pro677Ser) rs2145361163
NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu) rs2145389443
NM_015338.6(ASXL1):c.4624_4626TAA[1] (p.Ter1542_Ter(1542_?)(?)) rs2145398075
NM_015355.4(SUZ12):c.1234A>G (p.Thr412Ala) rs1909814462
NM_015355.4(SUZ12):c.1938A>C (p.Lys646Asn) rs2142222297
NM_015370.2(C22orf31):c.127G>T (p.Ala43Ser) rs2037381966
NM_015382.4(HECTD1):c.5266G>A (p.Gly1756Arg) rs2139388023
NM_015386.3(COG4):c.101C>T (p.Ala34Val) rs2049998459
NM_015386.3(COG4):c.2026T>C (p.Tyr676His) rs2151737380
NM_015443.4(KANSL1):c.1075A>G (p.Ser359Gly) rs1309097254
NM_015443.4(KANSL1):c.2420G>C (p.Ser807Thr) rs1317184946
NM_015474.4(SAMHD1):c.676C>G (p.Arg226Gly) rs778647626
NM_015488.5(PNKD):c.628C>A (p.His210Asn) rs886055620
NM_015557.3(CHD5):c.2043+4A>T rs1666868736
NM_015557.3(CHD5):c.2926G>T (p.Gly976Cys) rs2100851117
NM_015557.3(CHD5):c.5204T>A (p.Ile1735Asn) rs775681121
NM_015559.3(SETBP1):c.1931G>A (p.Ser644Asn) rs2071343664
NM_015559.3(SETBP1):c.812G>A (p.Gly271Glu) rs749422908
NM_015570.4(AUTS2):c.1132G>C (p.Val378Leu) rs771546186
NM_015570.4(AUTS2):c.142C>T (p.Leu48Phe) rs1475544687
NM_015570.4(AUTS2):c.1712T>C (p.Val571Ala) rs2129557711
NM_015570.4(AUTS2):c.3008C>T (p.Ser1003Leu) rs543645962
NM_015570.4(AUTS2):c.310-100635A>G rs1451461572
NM_015570.4(AUTS2):c.310-148390G>C rs1787711433
NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter) rs2129540473
NM_015570.4(AUTS2):c.624+2202A>G rs2129573053
NM_015570.4(AUTS2):c.701C>T (p.Ala234Val) rs1328605193
NM_015627.3(LDLRAP1):c.65G>T (p.Trp22Leu) rs121908324
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg) rs762521619
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_015662.3(IFT172):c.517G>C (p.Asp173His) rs2466023955
NM_015693.4(INTU):c.1305dup (p.Asn436Ter) rs1729889650
NM_015711.3(BICRA):c.-108G>A rs994623044
NM_015721.3(GEMIN4):c.557C>T (p.Ala186Val) rs2144173623
NM_015922.3(NSDHL):c.1054C>G (p.Leu352Val) rs142351862
NM_015922.3(NSDHL):c.1118A>G (p.Lys373Arg) rs1933665377
NM_015973.5(GAL):c.16G>A (p.Ala6Thr) rs760551954
NM_015973.5(GAL):c.316G>C (p.Asp106His) rs375918368
NM_015981.4(CAMK2A):c.270C>T (p.Asp90=) rs1464070393
NM_015981.4(CAMK2A):c.712G>C (p.Asp238His) rs1325334771
NM_016148.5(SHANK1):c.3605C>T (p.Pro1202Leu) rs2123082607
NM_016169.4(SUFU):c.1023-2A>T rs1060501105
NM_016188.5(ACTL6B):c.1225del (p.Ser409fs) rs774562545
NM_016188.5(ACTL6B):c.229del (p.Asp77fs) rs1804021220
NM_016188.5(ACTL6B):c.889G>A (p.Glu297Lys) rs1803836293
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu) rs761196275
NM_016204.4(GDF2):c.1042C>A (p.Pro348Thr) rs2549020041
NM_016219.5(MAN1B1):c.120GCC[3] (p.Pro44_Pro45del) rs538804415
NM_016219.5(MAN1B1):c.389C>A (p.Pro130Gln) rs1210293120
NM_016219.5(MAN1B1):c.587G>T (p.Arg196Leu) rs200410163
NM_016284.5(CNOT1):c.-175+5G>A rs1015293911
NM_016284.5(CNOT1):c.1240A>G (p.Ile414Val) rs2041627985
NM_016284.5(CNOT1):c.1603C>T (p.Arg535Cys) rs1567417422
NM_016327.3(UPB1):c.148_149dup (p.Asp51fs) rs765062693
NM_016333.4(SRRM2):c.3206C>G (p.Ser1069Cys) rs1199295504
NM_016362.5(GHRL):c.255del (p.Lys85fs) rs1044457750
NM_016373.4(WWOX):c.562C>T (p.Arg188Cys) rs199511589
NM_016592.5(GNAS):c.390_425del (p.Thr131_Glu142del) rs778192531
NM_016592.5(GNAS):c.613G>A (p.Glu205Lys) rs764608006
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp) rs1841460217
NM_016628.5(WAC):c.275-22319G>T rs2132485043
NM_016628.5(WAC):c.472dup (p.Glu158fs) rs2132669368
NM_016824.5(ADD3):c.313G>A (p.Gly105Ser) rs1850227925
NM_016953.4(PDE11A):c.2678C>A (p.Pro893Gln) rs200504859
NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs) rs781277383
NM_017514.5(PLXNA3):c.746_795delinsCCCAGACACAGCGGGCGAGAAATTTTCACGTCCAAAAT (p.Leu249_Met265delinsProGlnThrGlnArgAlaArgAsnPheHisValGlnAsn) rs2148244525
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs) rs398124308
NM_017588.3(WDR5):c.*1943_*1944del rs1485562050
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017617.5(NOTCH1):c.2278_2282del (p.Asn760fs) rs2540452961
NM_017617.5(NOTCH1):c.6157A>C (p.Asn2053His) rs1474607963
NM_017635.5(KMT5B):c.1174+1575C>G rs558553765
NM_017635.5(KMT5B):c.1190C>A (p.Ser397Tyr) rs2153041082
NM_017635.5(KMT5B):c.2074G>A (p.Ala692Thr) rs2153040244
NM_017635.5(KMT5B):c.2413C>T (p.Pro805Ser) rs2153039971
NM_017635.5(KMT5B):c.268G>A (p.Asp90Asn) rs2153068007
NM_017635.5(KMT5B):c.668_672del (p.Lys223fs) rs1590956245
NM_017649.5(CNNM2):c.1622-56334_1622-56333del rs1371214636
NM_017649.5(CNNM2):c.522dup (p.Ile175fs) rs2134149603
NM_017654.4(SAMD9):c.1052A>G (p.Asp351Gly) rs757652918
NM_017654.4(SAMD9):c.984C>A (p.Tyr328Ter) rs2116421055
NM_017662.5(TRPM6):c.4355A>G (p.Tyr1452Cys) rs938178631
NM_017667.4(VPS50):c.1723C>T (p.Gln575Ter) rs2546603981
NM_017755.6(NSUN2):c.1781_1783del (p.Gly594del) rs1736687901
NM_017760.7(NCAPG2):c.1008del (p.Leu335_Trp336insTer) rs1834398779
NM_017760.7(NCAPG2):c.1699A>G (p.Ile567Val) rs2129460407
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu) rs2509454418
NM_017777.4(MKS1):c.811C>A (p.His271Asn) rs201771125
NM_017777.4(MKS1):c.955G>A (p.Val319Ile) rs1393510784
NM_017780.4(CHD7):c.1577A>G (p.Gln526Arg) rs2150581368
NM_017780.4(CHD7):c.4771C>T (p.Pro1591Ser) rs2150786767
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.6419_6423del (p.Thr2140fs) rs2488043393
NM_017780.4(CHD7):c.6598G>C (p.Gly2200Arg) rs747357928
NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile) rs889746241
NM_017780.4(CHD7):c.8064del (p.Ile2688fs) rs2129726316
NM_017831.4(RNF125):c.679A>T (p.Asn227Tyr) rs776728236
NM_017852.5(NLRP2):c.611_612del (p.Pro204fs) rs1372654449
NM_017934.7(PHIP):c.2201+2092G>A rs1769538513
NM_017934.7(PHIP):c.2748G>C (p.Lys916Asn) rs761958427
NM_017934.7(PHIP):c.3526A>T (p.Met1176Leu) rs1766896251
NM_018023.5(YEATS2):c.4087G>A (p.Ala1363Thr) rs2108544825
NM_018023.5(YEATS2):c.444C>G (p.Asp148Glu) rs1716550954
NM_018026.4(PACS1):c.104AGC[9] (p.Gln38_Gln40dup) rs749515977
NM_018026.4(PACS1):c.1992C>T (p.Leu664=) rs780838334
NM_018026.4(PACS1):c.2089G>C (p.Glu697Gln) rs201575137
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn) rs751638632
NM_018100.4(EFHC1):c.21T>A (p.His7Gln) rs775530837
NM_018129.4(PNPO):c.418-1G>C rs2144165139
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.4195dup (p.Thr1399fs) rs199422163
NM_018196.4(TMLHE):c.638+83_995+2127del
NM_018225.3(SMU1):c.940A>C (p.Ser314Arg) rs2119431433
NM_018230.3(NUP133):c.2992dup (p.Gln998fs) rs1660478193
NM_018233.4(OGFOD1):c.1467+11_1467+13del rs761254217
NM_018243.4(SEPTIN11):c.28-2A>G rs2476469814
NM_018263.6(ASXL2):c.2168C>T (p.Thr723Ile) rs1389933937
NM_018263.6(ASXL2):c.2845A>C (p.Asn949His) rs1392622520
NM_018263.6(ASXL2):c.4105G>T (p.Ala1369Ser) rs2149135581
NM_018294.6(CWF19L1):c.708+294_1044+1540del
NM_018294.6(CWF19L1):c.942del (p.Pro315fs) rs749679347
NM_018303.6(EXOC2):c.-43-18972_-43-18956del rs528790996
NM_018341.3(ERMARD):c.1286G>T (p.Arg429Leu) rs752611527
NM_018341.3(ERMARD):c.1629_1636del (p.Arg544fs) rs1401603677
NM_018429.3(BDP1):c.*1107T>C rs2112148040
NM_018486.3(HDAC8):c.738-1619G>A rs2148050178
NM_018489.3(ASH1L):c.1037T>C (p.Ile346Thr) rs775556643
NM_018489.3(ASH1L):c.161G>C (p.Arg54Pro) rs1416735817
NM_018489.3(ASH1L):c.3008C>T (p.Ser1003Leu) rs765402822
NM_018489.3(ASH1L):c.6911C>T (p.Ser2304Phe) rs774024798
NM_018489.3(ASH1L):c.961T>A (p.Leu321Ile) rs1665987514
NM_018896.5(CACNA1G):c.1126A>G (p.Ile376Val) rs944581365
NM_018938.4(PCDHB4):c.915del (p.Lys305fs) rs372292910
NM_019023.5(PRMT7):c.-218-3C>G rs2543549320
NM_019023.5(PRMT7):c.1651-8G>A rs764519451
NM_019023.5(PRMT7):c.254C>A (p.Ala85Glu) rs1243665152
NM_019066.5(MAGEL2):c.1445C>T (p.Ala482Val) rs2140716042
NM_019066.5(MAGEL2):c.1991C>T (p.Pro664Leu) rs201935129
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr) rs1216919340
NM_019066.5(MAGEL2):c.2746A>G (p.Asn916Asp) rs2140713261
NM_019066.5(MAGEL2):c.2819C>A (p.Pro940His) rs769378200
NM_019066.5(MAGEL2):c.293_294delinsAT (p.Pro98His) rs2503985041
NM_019066.5(MAGEL2):c.3384G>C (p.Arg1128Ser) rs1357977229
NM_019066.5(MAGEL2):c.3661G>A (p.Ala1221Thr) rs779840896
NM_019066.5(MAGEL2):c.509_510delinsTG (p.Ala170Val) rs2140718561
NM_019066.5(MAGEL2):c.623C>A (p.Pro208Gln) rs1369615335
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu) rs1248852458
NM_019109.5(ALG1):c.1306C>T (p.Gln436Ter) rs1261895166
NM_019109.5(ALG1):c.946G>A (p.Val316Ile) rs150272167
NM_019613.4(WDR45B):c.106T>C (p.Tyr36His) rs2045947711
NM_019842.4(KCNQ5):c.2444T>G (p.Leu815Arg) rs1204507146
NM_019842.4(KCNQ5):c.292A>G (p.Ser98Gly) rs2154471235
NM_019842.4(KCNQ5):c.68CGG[7] (p.Ala26_Ala27dup) rs568022266
NM_020070.4(IGLL1):c.178C>G (p.Arg60Gly) rs146108390
NM_020070.4(IGLL1):c.594C>A (p.His198Gln) rs1064418
NM_020151.4(STARD7):c.175G>T (p.Gly59Cys) rs1436909374
NM_020207.7(ERCC6L2):c.789-6_789-3del rs754561683
NM_020338.4(ZMIZ1):c.2177A>G (p.Asn726Ser) rs752281415
NM_020338.4(ZMIZ1):c.2749G>C (p.Gly917Arg) rs200162208
NM_020338.4(ZMIZ1):c.281-21790A>G rs2132909014
NM_020338.4(ZMIZ1):c.410C>A (p.Pro137His) rs1852360834
NM_020338.4(ZMIZ1):c.440C>T (p.Pro147Leu) rs1853346060
NM_020338.4(ZMIZ1):c.957+3A>G rs2132033341
NM_020347.4(LZTFL1):c.55C>A (p.Arg19Ser) rs759640480
NM_020361.5(CPA6):c.117-25562dup rs996734526
NM_020361.5(CPA6):c.192+29464G>T rs2128981874
NM_020361.5(CPA6):c.20G>T (p.Arg7Leu) rs373565150
NM_020361.5(CPA6):c.757T>G (p.Trp253Gly) rs781369203
NM_020442.6(VARS2):c.1625A>G (p.His542Arg) rs2150561733
NM_020699.4(GATAD2B):c.1621G>T (p.Val541Leu) rs1324892287
NM_020706.2(SCAF4):c.988C>G (p.Pro330Ala) rs1298964786
NM_020708.5(SLC12A5):c.2360C>T (p.Thr787Met) rs901985864
NM_020717.5(SHROOM4):c.1165G>T (p.Ala389Ser) rs1931266627
NM_020717.5(SHROOM4):c.1448G>C (p.Arg483Thr) rs1473207542
NM_020717.5(SHROOM4):c.679C>T (p.Pro227Ser) rs1931302115
NM_020719.3(PRR12):c.1444C>A (p.Pro482Thr) rs750225850
NM_020719.3(PRR12):c.1657C>G (p.Leu553Val) rs533656706
NM_020719.3(PRR12):c.2680_2695dup (p.Val899fs) rs2122298859
NM_020719.3(PRR12):c.4015G>A (p.Gly1339Arg) rs1461627612
NM_020719.3(PRR12):c.4544C>G (p.Pro1515Arg) rs1263728584
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu) rs201737651
NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro) rs1664034594
NM_020759.3(STARD9):c.11233dup (p.Leu3745fs) rs2060744498
NM_020759.3(STARD9):c.11959C>T (p.Gln3987Ter) rs2140298371
NM_020759.3(STARD9):c.12853C>T (p.Gln4285Ter) rs2060799478
NM_020759.3(STARD9):c.5368dup (p.Gln1790fs) rs2140244432
NM_020791.4(TAOK1):c.2125C>T (p.Arg709Ter) rs1347078601
NM_020795.4(NLGN2):c.2436C>G (p.Phe812Leu) rs1907191482
NM_020806.5(GPHN):c.1293+2T>G rs2077665118
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln) rs397515402
NM_020928.2(ZSWIM6):c.1795C>A (p.Gln599Lys) rs2112269022
NM_020928.2(ZSWIM6):c.1943G>C (p.Arg648Pro) rs983495066
NM_020928.2(ZSWIM6):c.2005T>C (p.Ser669Pro) rs1404576753
NM_020928.2(ZSWIM6):c.2710C>T (p.Arg904Ter) rs2112294273
NM_020928.2(ZSWIM6):c.676+18190A>G rs748947360
NM_020928.2(ZSWIM6):c.677-17233C>A rs2112162271
NM_020964.3(EPG5):c.7443-621A>G rs930302721
NM_020971.3(SPTBN4):c.7228G>C (p.Ala2410Pro) rs963393003
NM_020975.6(RET):c.1998G>C (p.Lys666Asn) rs146646971
NM_020987.5(ANK3):c.11591A>G (p.Lys3864Arg) rs1564750733
NM_020987.5(ANK3):c.2836G>C (p.Glu946Gln) rs2094230190
NM_020987.5(ANK3):c.9598A>G (p.Ile3200Val) rs2131970999
NM_020988.3(GNAO1):c.303+4852A>G rs2143533711
NM_020988.3(GNAO1):c.304-19275T>C rs1475730892
NM_020988.3(GNAO1):c.724-8G>A rs1085307876
NM_021008.4(DEAF1):c.104G>A (p.Gly35Asp) rs2133439037
NM_021008.4(DEAF1):c.516A>C (p.Pro172=) rs1255534089
NM_021008.4(DEAF1):c.72_89del (p.19VAAAAA[1]) rs781243390
NM_021008.4(DEAF1):c.74T>G (p.Val25Gly) rs1861053325
NM_021072.4(HCN1):c.1377+19834C>T rs761223261
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu) rs2111839334
NM_021072.4(HCN1):c.849+66420G>T rs986310668
NM_021096.4(CACNA1I):c.2926G>C (p.Gly976Arg) rs986674279
NM_021098.3(CACNA1H):c.2132A>G (p.Glu711Gly) rs1450545207
NM_021098.3(CACNA1H):c.3218C>T (p.Ser1073Phe) rs369474500
NM_021098.3(CACNA1H):c.592A>G (p.Ile198Val) rs774463255
NM_021098.3(CACNA1H):c.5968A>G (p.Arg1990Gly) rs779602893
NM_021098.3(CACNA1H):c.6122G>C (p.Gly2041Ala) rs1970359959
NM_021098.3(CACNA1H):c.6895G>T (p.Ala2299Ser) rs2141413125
NM_021224.6(ZNF462):c.3060G>C (p.Lys1020Asn) rs2131477184
NM_021224.6(ZNF462):c.3601G>A (p.Gly1201Arg) rs1330178325
NM_021224.6(ZNF462):c.4252C>G (p.Leu1418Val) rs758226459
NM_021224.6(ZNF462):c.4588G>T (p.Val1530Leu) rs762506887
NM_021784.5(FOXA2):c.506C>G (p.Ser169Trp) rs2514813303
NM_021912.5(GABRB3):c.11G>T (p.Gly4Val) rs1356927141
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs) rs747316677
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser) rs2141138001
NM_021956.5(GRIK2):c.1525A>C (p.Lys509Gln) rs1786912135
NM_021957.4(GYS2):c.1413_1416del (p.Asp471fs) rs1199090828
NM_021969.3(NR0B2):c.293_301delinsAC (p.Leu98fs) rs1570714352
NM_021969.3(NR0B2):c.497A>G (p.Tyr166Cys) rs2522575747
NM_021969.3(NR0B2):c.528C>A (p.Asn176Lys) rs757929402
NM_022048.5(CSNK1G1):c.368C>G (p.Pro123Arg) rs2140268788
NM_022065.5(THADA):c.5530G>A (p.Val1844Met) rs2103996032
NM_022095.4(ZNF335):c.1665G>C (p.Pro555=) rs1201395437
NM_022124.6(CDH23):c.7225-1G>A rs1064795722
NM_022165.3(LIN7B):c.156+8G>C rs776700769
NM_022168.4(IFIH1):c.1756G>C (p.Glu586Gln) rs1261640042
NM_022168.4(IFIH1):c.2465G>C (p.Arg822Pro) rs376048533
NM_022168.4(IFIH1):c.52_262delinsCCTCTG (p.Phe18fs) rs2105238244
NM_022436.3(ABCG5):c.1175A>C (p.Gln392Pro) rs1426495331
NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val) rs200373089
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) rs72542426
NM_022436.3(ABCG5):c.529C>G (p.Leu177Val) rs1305628120
NM_022436.3(ABCG5):c.576del (p.Ile193fs) rs2466053172
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu) rs558635043
NM_022437.3(ABCG8):c.320C>T (p.Ser107Leu) rs137854891
NM_022455.4:c.928-10312_3797-10414del
NM_022455.5(NSD1):c.1028C>G (p.Ser343Cys) rs1761727286
NM_022455.5(NSD1):c.1921A>G (p.Thr641Ala) rs1763234813
NM_022455.5(NSD1):c.2077A>G (p.Asn693Asp) rs773782115
NM_022455.5(NSD1):c.2267A>T (p.Asn756Ile) rs139085502
NM_022455.5(NSD1):c.2963C>T (p.Ser988Phe) rs1465577289
NM_022455.5(NSD1):c.3438T>G (p.Asp1146Glu) rs1180409864
NM_022455.5(NSD1):c.5549C>T (p.Ala1850Val) rs2127241862
NM_022552.5(DNMT3A):c.1791del (p.Arg598fs) rs2149289125
NM_022552.5(DNMT3A):c.2062C>T (p.Arg688Cys) rs1484795800
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_022765.4(MICAL1):c.922G>T (p.Val308Leu) rs560383669
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile) rs186694298
NM_022773.4(LMF1):c.1432G>A (p.Asp478Asn) rs377384616
NM_022773.4(LMF1):c.512T>C (p.Phe171Ser) rs376658034
NM_022773.4(LMF1):c.57G>C (p.Lys19Asn) rs774113284
NM_022773.4(LMF1):c.683G>T (p.Gly228Val) rs754772870
NM_022817.3(PER2):c.1793A>G (p.Asn598Ser) rs962808354
NM_022893.4(BCL11A):c.1117C>T (p.Pro373Ser) rs1676309768
NM_022893.4(BCL11A):c.1846_1847delinsA (p.Gly616fs) rs2103830741
NM_022897.5(RANBP17):c.1710+75929A>G rs2127639991
NM_024072.4(DDX54):c.1824G>C (p.Gln608His) rs1952244946
NM_024119.3(DHX58):c.675_676insT (p.Gln226fs) rs2144006172
NM_024298.5(MBOAT7):c.1361_1382del (p.Arg454fs) rs548203729
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del) rs776784065
NM_024496.4(IRF2BPL):c.1436C>T (p.Pro479Leu) rs2140377693
NM_024496.4(IRF2BPL):c.1501G>A (p.Asp501Asn) rs902619113
NM_024496.4(IRF2BPL):c.321_332del (p.Gln124_Gln127del) rs1566786923
NM_024496.4(IRF2BPL):c.321_350del (p.Gln118_Gln127del) rs1405467828
NM_024496.4(IRF2BPL):c.345_377del (p.Gln117_Gln127del) rs747510848
NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter) rs1292724234
NM_024496.4(IRF2BPL):c.456C>G (p.Ser152Arg) rs2139976146
NM_024496.4(IRF2BPL):c.462CGC[5] (p.Ala161_Ala164del) rs371633333
NM_024496.4(IRF2BPL):c.490G>A (p.Ala164Thr) rs2139976037
NM_024496.4(IRF2BPL):c.683G>T (p.Arg228Leu) rs1398386187
NM_024496.4(IRF2BPL):c.863C>A (p.Ala288Asp) rs1885144763
NM_024503.5(HIVEP3):c.5645C>A (p.Pro1882His) rs2149047392
NM_024537.4(CARS2):c.499G>A (p.Glu167Lys) rs753936012
NM_024589.3(ROGDI):c.658G>T (p.Ala220Ser) rs546063670
NM_024596.5(MCPH1):c.2078G>T (p.Arg693Leu) rs370011131
NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter) rs7017210
NM_024611.6(ICE2):c.1438del (p.Glu480fs) rs2063909740
NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly) rs1718965342
NM_024665.7(TBL1XR1):c.756G>T (p.Trp252Cys) rs2108480249
NM_024678.6(NARS2):c.822+6704_959+1727del
NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr) rs750164736
NM_024721.5(ZFHX4):c.2965A>C (p.Lys989Gln) rs990934665
NM_024757.5(EHMT1):c.1307C>T (p.Pro436Leu) rs869312936
NM_024757.5(EHMT1):c.216C>A (p.His72Gln) rs374930132
NM_025099.6(CTC1):c.248_251dup (p.His84fs) rs745467709
NM_025103.4(IFT74):c.152G>A (p.Arg51His) rs73436007
NM_025103.4(IFT74):c.587C>T (p.Ala196Val) rs995864839
NM_025114.4(CEP290):c.1624-5T>G rs142742071
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2245C>T (p.Leu749Phe) rs2038674474
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu) rs2499959954
NM_025114.4(CEP290):c.5493del (p.Ala1832fs) rs386834158
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=) rs764861728
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu) rs2499368835
NM_025114.4(CEP290):c.[943-4C>T;943-8A>T]
NM_025153.3(ATP10B):c.2415C>A (p.Cys805Ter) rs760382640
NM_030632.3(ASXL3):c.1381A>G (p.Ser461Gly) rs2510916465
NM_030632.3(ASXL3):c.2002del (p.Thr668fs) rs2145414409
NM_030632.3(ASXL3):c.2992G>A (p.Glu998Lys) rs2145417570
NM_030632.3(ASXL3):c.4826G>A (p.Trp1609Ter) rs2145429823
NM_030632.3(ASXL3):c.6335T>A (p.Leu2112Ter) rs2145435948
NM_030665.4(RAI1):c.1801G>A (p.Ala601Thr) rs1170875285
NM_030665.4(RAI1):c.3168T>G (p.Cys1056Trp) rs2143002559
NM_030665.4(RAI1):c.3649C>T (p.Arg1217Trp) rs898986244
NM_030665.4(RAI1):c.467A>G (p.Gln156Arg) rs977107435
NM_030787.4(CFHR5):c.53dup (p.Glu19fs) rs771671663
NM_030948.6(PHACTR1):c.1252G>T (p.Val418Phe) rs756423380
NM_030948.6(PHACTR1):c.1393_1447+1del rs1778054792
NM_030948.6(PHACTR1):c.1396C>A (p.Leu466Met) rs2127450867
NM_030948.6(PHACTR1):c.250+8924C>G rs1427631629
NM_030948.6(PHACTR1):c.275C>T (p.Ala92Val) rs767982489
NM_030948.6(PHACTR1):c.664+2247C>A rs1762647053
NM_030948.6(PHACTR1):c.664+2260T>A rs1322402598
NM_030966.2(KRTAP1-3):c.121C>G (p.Gln41Glu) rs78298475
NM_031200.3(CCR9):c.40G>T (p.Ala14Ser) rs1438760537
NM_031206.7(LAS1L):c.1764AGAGGAGGA[1] (p.Glu591_Glu593del) rs747219544
NM_031206.7(LAS1L):c.515-6C>G rs1379421207
NM_031263.4(HNRNPK):c.1183C>T (p.Pro395Ser) rs771289643
NM_031263.4(HNRNPK):c.1191+2T>G rs2491956711
NM_031263.4(HNRNPK):c.1359C>G (p.Asn453Lys) rs2133014344
NM_031407.7(HUWE1):c.12602A>C (p.Glu4201Ala) rs2146826433
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn) rs2067907694
NM_031407.7(HUWE1):c.7507+7T>C rs2147654560
NM_031407.7(HUWE1):c.8371G>T (p.Ala2791Ser) rs2047925685
NM_031407.7(HUWE1):c.8383G>T (p.Gly2795Cys) rs2061922447
NM_031407.7(HUWE1):c.8493A>G (p.Ile2831Met) rs2147396387
NM_031407.7(HUWE1):c.9514C>G (p.Leu3172Val) rs2147253217
NM_031418.4(ANO3):c.702C>A (p.Cys234Ter) rs886037882
NM_031418.4(ANO3):c.944G>A (p.Arg315His) rs766297503
NM_031421.5(ODAD4):c.1993_1997del (p.Asn665fs) rs2050870332
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs) rs754216321
NM_031885.5(BBS2):c.662T>C (p.Leu221Pro) rs1597020018
NM_032108.4(SEMA6B):c.1153T>C (p.Tyr385His) rs1977288029
NM_032119.4(ADGRV1):c.12557A>C (p.Glu4186Ala) rs1758418294
NM_032119.4(ADGRV1):c.15212A>G (p.Glu5071Gly) rs1762337320
NM_032119.4(ADGRV1):c.15415G>C (p.Glu5139Gln) rs776241274
NM_032119.4(ADGRV1):c.22+25188A>C rs1758425024
NM_032119.4(ADGRV1):c.335_336del (p.Phe112fs) rs1375539065
NM_032119.4(ADGRV1):c.6556C>G (p.Pro2186Ala) rs1357549892
NM_032119.4(ADGRV1):c.9782G>A (p.Ser3261Asn) rs1751555869
NM_032242.4(PLXNA1):c.2095del (p.Arg699fs) rs2472529640
NM_032242.4(PLXNA1):c.2704G>A (p.Val902Met) rs145637703
NM_032242.4(PLXNA1):c.386C>T (p.Ala129Val) rs1193792071
NM_032242.4(PLXNA1):c.5C>A (p.Pro2Gln) rs576960383
NM_032271.3(TRAF7):c.1839_1843del (p.Thr614fs) rs2093134778
NM_032436.4(CHAMP1):c.1360G>A (p.Asp454Asn) rs2087230003
NM_032436.4(CHAMP1):c.491C>T (p.Ser164Phe) rs2139418657
NM_032436.4(CHAMP1):c.613C>T (p.Pro205Ser) rs782278722
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032620.4(GTPBP3):c.221C>A (p.Ala74Asp) rs2074386578
NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter) rs1599560256
NM_032634.4(PIGO):c.2435T>G (p.Leu812Ter) rs746967719
NM_032656.4(DHX37):c.1288A>T (p.Ile430Phe) rs772541446
NM_032656.4(DHX37):c.3217-1G>T rs2135926480
NM_032776.3(JMJD1C):c.173A>G (p.Tyr58Cys) rs1451725739
NM_032776.3(JMJD1C):c.2882A>G (p.Lys961Arg) rs2133165233
NM_032776.3(JMJD1C):c.3779C>G (p.Ser1260Cys) rs2133155372
NM_032776.3(JMJD1C):c.5660C>G (p.Ala1887Gly) rs1156737248
NM_032776.3(JMJD1C):c.6410A>C (p.Glu2137Ala) rs369068631
NM_032790.4(ORAI1):c.129_131GCC[2][1] (p.Pro47_Ser48insPro) rs2136841703
NM_032802.4(SPPL2A):c.799C>G (p.Leu267Val) rs769698329
NM_032861.4(SERAC1):c.1027A>T (p.Ile343Phe) rs1784395214
NM_033026.6(PCLO):c.14792-2882_15007+2592dup
NM_033028.5(BBS4):c.221-1047_405+2899del
NM_033028.5(BBS4):c.460-15T>A rs750938468
NM_033343.4(LHX4):c.464C>T (p.Ala155Val) rs746041842
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033656.4(BRWD1):c.4745del (p.Arg1582fs) rs2146463862
NM_052867.4(NALCN):c.1267-924_1434+2024del
NM_052867.4(NALCN):c.2615A>C (p.Asn872Thr) rs777974606
NM_052867.4(NALCN):c.3209A>G (p.Asn1070Ser) rs1277065548
NM_052867.4(NALCN):c.638del (p.Lys213fs) rs2046702287
NM_052874.5(STX1B):c.262G>T (p.Val88Phe) rs995045434
NM_052876.4(NACC1):c.1042A>G (p.Ile348Val) rs749707137
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_053025.4(MYLK):c.4549C>A (p.His1517Asn) rs781730221
NM_057175.5(NAA15):c.1493T>G (p.Met498Arg) rs2110957042
NM_057175.5(NAA15):c.430C>T (p.Arg144Ter) rs1560966086
NM_057175.5(NAA15):c.55-2863G>C rs2110888403
NM_057175.5(NAA15):c.55-2A>C rs2530351536
NM_057175.5(NAA15):c.997T>C (p.Tyr333His) rs1747780138
NM_078470.6(COX15):c.490A>G (p.Ile164Val) rs749525116
NM_078480.3(PUF60):c.668G>A (p.Arg223Gln) rs1317244394
NM_078629.4(MSL3):c.1319C>A (p.Pro440Gln) rs369777019
NM_078629.4(MSL3):c.947A>C (p.Asn316Thr) rs967306073
NM_080425.4(GNAS):c.1130G>T (p.Gly377Val) rs778121381
NM_080425.4(GNAS):c.1276G>C (p.Ala426Pro) rs767104257
NM_080425.4(GNAS):c.1691A>C (p.Tyr564Ser) rs2516392645
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys) rs74897360
NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly) rs2086410482
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn) rs577687095
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr) rs2516373638
NM_080476.5(PIGU):c.1286del (p.Glu429fs) rs2146684649
NM_080746.3(RPL10L):c.501C>G (p.Ile167Met) rs1379121099
NM_130797.4(DPP6):c.1888G>A (p.Gly630Ser) rs2150654585
NM_130839.5(UBE3A):c.422A>T (p.Glu141Val) rs2152823762
NM_133259.4(LRPPRC):c.2179G>A (p.Val727Ile) rs2105082493
NM_133259.4(LRPPRC):c.3568A>G (p.Asn1190Asp) rs1670878489
NM_133259.4(LRPPRC):c.965C>T (p.Ser322Leu) rs1673969300
NM_133330.3(NSD2):c.1676_1679del rs1553873247
NM_133433.4(NIPBL):c.1229T>C (p.Ile410Thr) rs546539357
NM_133433.4(NIPBL):c.2246A>C (p.Gln749Pro) rs1178033980
NM_133433.4(NIPBL):c.479C>T (p.Thr160Ile) rs763783306
NM_133433.4(NIPBL):c.5115T>C (p.His1705=) rs2149696602
NM_133433.4(NIPBL):c.6440T>G (p.Val2147Gly) rs2478588532
NM_133433.4(NIPBL):c.6763+1_6763+2del rs2478618302
NM_133638.6(ADAMTS19):c.3313-12986del rs2127201481
NM_134261.3(RORA):c.1183+8G>T rs1452394787
NM_134261.3(RORA):c.1365C>A (p.His455Gln) rs199865260
NM_134261.3(RORA):c.166+91672A>G rs2140857527
NM_134261.3(RORA):c.167-69528A>G rs1479095602
NM_134261.3(RORA):c.196+51382_196+51385del rs539921893
NM_134261.3(RORA):c.32C>T (p.Ala11Val) rs2140955720
NM_134261.3(RORA):c.932A>G (p.Tyr311Cys) rs2141286172
NM_138369.3(BOD1):c.514C>G (p.Pro172Ala) rs1755284095
NM_138420.4(AHNAK2):c.14221T>A (p.Cys4741Ser) rs1897973865
NM_138425.4(C12orf57):c.155_166del (p.Gln52_Leu55del) rs782305725
NM_138459.5(NUS1):c.697A>G (p.Asn233Asp) rs779757878
NM_138615.3(DHX30):c.1237C>T (p.Leu413Phe) rs1165263764
NM_138615.3(DHX30):c.2099T>G (p.Leu700Arg) rs2037670513
NM_138615.3(DHX30):c.2845G>T (p.Val949Leu) rs2037799667
NM_138775.3(ALKBH8):c.1442G>A (p.Arg481His) rs532327456
NM_138927.4(SON):c.1096A>G (p.Lys366Glu) rs772141202
NM_138927.4(SON):c.245-485_273delinsGTTG rs2085688464
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_138927.4(SON):c.6487A>T (p.Thr2163Ser) rs16838998
NM_139058.3(ARX):c.659G>C (p.Gly220Ala) rs2147323924
NM_139119.3(YY1AP1):c.743del (p.Gly248fs) rs2149039608
NM_139318.5(KCNH5):c.787G>A (p.Val263Ile) rs760127525
NM_144596.4(TTC8):c.104C>A (p.Pro35His) rs2094691079
NM_144596.4(TTC8):c.425C>T (p.Pro142Leu) rs2546169356
NM_144666.3(DNHD1):c.6868G>A (p.Ala2290Thr) rs1011943451
NM_144773.4(PROKR2):c.253C>G (p.Arg85Gly) rs141090506
NM_144773.4(PROKR2):c.254G>T (p.Arg85Leu) rs74315418
NM_145207.3(AFG2A):c.2214-5A>G rs1560952661
NM_145239.3(PRRT2):c.436C>A (p.Pro146Thr) rs1900084663
NM_145239.3(PRRT2):c.649dup (p.Arg217fs) rs587778771
NM_145314.3(UCMA):c.17_220+223del rs2131608474
NM_145331.3(MAP3K7):c.795TTG[1] (p.Cys266del) rs2127974453
NM_145691.4(ATPAF2):c.8G>A (p.Arg3Lys) rs1131691631
NM_152309.3(PIK3AP1):c.2087G>A (p.Ser696Asn) rs1261077605
NM_152309.3(PIK3AP1):c.2177C>G (p.Thr726Arg) rs113976248
NM_152384.3(BBS5):c.259-3C>G rs564412855
NM_152564.5(VPS13B):c.-30+5G>A rs2488079654
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu) rs770999005
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs) rs786204456
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu) rs779736147
NM_152564.5(VPS13B):c.1657A>G (p.Thr553Ala) rs2132580942
NM_152564.5(VPS13B):c.1769C>T (p.Ala590Val) rs182397346
NM_152564.5(VPS13B):c.2258A>G (p.Tyr753Cys) rs2488877541
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg) rs1376390404
NM_152564.5(VPS13B):c.5220+20875C>A rs147771008
NM_152564.5(VPS13B):c.5221-24871G>T rs944094510
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn) rs2133931905
NM_152564.5(VPS13B):c.7050+2243A>G rs150015037
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser) rs926240307
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln) rs2492005938
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs) rs759536357
NM_152641.4(ARID2):c.186G>C (p.Lys62Asn) rs2137960002
NM_152641.4(ARID2):c.2233C>G (p.Gln745Glu) rs1305500165
NM_152641.4(ARID2):c.4568A>G (p.Asp1523Gly) rs1943577999
NM_152703.5(SAMD9L):c.2052A>C (p.Glu684Asp) rs1792278396
NM_152722.5(HEPACAM):c.952T>A (p.Ser318Thr) rs1947137638
NM_152743.4(BRAT1):c.1463C>G (p.Ser488Cys) rs752652217
NM_152743.4(BRAT1):c.587AGA[1] (p.Lys197del) rs747567777
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152868.3(KCNJ4):c.865A>T (p.Ile289Phe) rs2145929841
NM_152906.7(TANGO2):c.430G>A (p.Asp144Asn) rs2147637855
NM_152989.5(SOX5):c.-1-87764T>C rs1949815031
NM_152989.5(SOX5):c.-175-344A>G rs2136240323
NM_153026.3(PRICKLE1):c.-48-11193G>A rs1460972014
NM_153026.3(PRICKLE1):c.1725G>T (p.Glu575Asp) rs2140088218
NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His) rs748173327
NM_153026.3(PRICKLE1):c.910A>C (p.Lys304Gln) rs202205425
NM_153033.5(KCTD7):c.145-2A>G rs1554397774
NM_153766.3(KCNJ1):c.1001del (p.Pro334fs) rs768286324
NM_170606.3(KMT2C):c.11843A>C (p.Gln3948Pro) rs2092022834
NM_170606.3(KMT2C):c.12704T>G (p.Ile4235Ser) rs2091568246
NM_170606.3(KMT2C):c.13513A>G (p.Met4505Val) rs1338474545
NM_170606.3(KMT2C):c.14329C>T (p.Arg4777Trp) rs2090935134
NM_170606.3(KMT2C):c.1665G>T (p.Met555Ile) rs552470432
NM_170606.3(KMT2C):c.1876G>A (p.Glu626Lys) rs2095513181
NM_170606.3(KMT2C):c.2388G>C (p.Met796Ile) rs2129163898
NM_170606.3(KMT2C):c.4766T>C (p.Ile1589Thr) rs985359158
NM_170606.3(KMT2C):c.4852T>C (p.Ser1618Pro) rs2129124726
NM_170606.3(KMT2C):c.6374C>G (p.Pro2125Arg) rs2093433315
NM_170606.3(KMT2C):c.7070G>T (p.Gly2357Val) rs898494556
NM_170606.3(KMT2C):c.7775A>G (p.Asn2592Ser) rs1294128108
NM_170665.4(ATP2A2):c.2030G>C (p.Arg677Pro) rs1879294675
NM_170675.5(MEIS2):c.133C>G (p.Leu45Val) rs2140100040
NM_170675.5(MEIS2):c.755-11878A>G rs2141794464
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) rs60580541
NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn) rs1250355311
NM_170707.4(LMNA):c.872A>T (p.Glu291Val) rs2527980043
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170784.3(MKKS):c.109T>C (p.Tyr37His) rs2514497979
NM_172107.4(KCNQ2):c.1763+1576T>G rs62208003
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_173354.5(SIK1):c.1471G>C (p.Val491Leu) rs140222760
NM_173560.4(RFX6):c.208G>A (p.Gly70Arg) rs1364016225
NM_173569.4(UBN2):c.1505G>A (p.Arg502His) rs1797195891
NM_173630.4(RTTN):c.3373G>A (p.Ala1125Thr) rs183531175
NM_173648.4(CCDC141):c.4312C>T (p.Pro1438Ser) rs1684498900
NM_173653.4(SLC9A9):c.1203+1G>A rs2035814212
NM_173660.5(DOK7):c.956C>A (p.Pro319His) rs376334067
NM_173728.4(ARHGEF15):c.398C>A (p.Pro133His) rs115065009
NM_174912.4(FAAH2):c.623-1358_742+4935del
NM_174934.4(SCN4B):c.61+1144T>A rs2135509745
NM_174936.4(PCSK9):c.1660C>G (p.Gln554Glu) rs149311926
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.45GCT[11] (p.Leu20_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.956G>A (p.Arg319Gln) rs1644712458
NM_175914.5(HNF4A):c.643A>G (p.Met215Val) rs1381499581
NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu) rs761013253
NM_177550.5(SLC13A5):c.289G>A (p.Ala97Thr) rs1597676768
NM_177972.3(TUB):c.115AAG[2] (p.Lys41del) rs749961508
NM_177972.3(TUB):c.1215+1G>A rs1589996458
NM_177972.3(TUB):c.1425G>C (p.Glu475Asp) rs1331839756
NM_177972.3(TUB):c.293C>T (p.Ala98Val) rs909748733
NM_177972.3(TUB):c.728C>T (p.Pro243Leu) rs1944038804
NM_177972.3(TUB):c.885+7T>C rs776753352
NM_178012.5(TUBB2B):c.1223T>C (p.Phe408Ser) rs2113818887
NM_178012.5(TUBB2B):c.845G>C (p.Arg282Pro) rs2533617289
NM_178161.3(PTF1A):c.673T>G (p.Leu225Val) rs1402340663
NM_178161.3(PTF1A):c.703_720del (p.Gly235_Gly240del) rs953597943
NM_178161.3(PTF1A):c.8C>T (p.Ala3Val) rs146089816
NM_178161.3(PTF1A):c.987A>G (p.Ter329Trp) rs2492674464
NM_178172.6(GPIHBP1):c.106G>C (p.Asp36His) rs1486572086
NM_178172.6(GPIHBP1):c.397del (p.Ser133fs) rs2488909361
NM_178172.6(GPIHBP1):c.523G>C (p.Gly175Arg) rs145844329
NM_181303.2(NLGN3):c.806G>A (p.Ser269Asn) rs2092439435
NM_181523.3(PIK3R1):c.1670G>A (p.Arg557Gln) rs2112275807
NM_181552.4(CUX1):c.1834C>T (p.Gln612Ter) rs2131985466
NM_181552.4(CUX1):c.1981C>T (p.Arg661Ter) rs372708324
NM_181840.1(KCNK18):c.721C>A (p.Gln241Lys) rs1855123740
NM_182493.3(MYLK3):c.1663-5C>A rs781747475
NM_182498.4(ZNF428):c.361C>A (p.Gln121Lys) rs992390730
NM_182616.4(ARPIN):c.169-963_177del rs1897164637
NM_182641.4(BPTF):c.5587C>T (p.Arg1863Ter) rs2063551300
NM_182925.5(FLT4):c.298_304del (p.Glu100fs) rs1764039505
NM_182931.3(KMT2E):c.2596+15dup rs758362004
NM_182931.3(KMT2E):c.670A>C (p.Asn224His) rs2129567977
NM_182931.3(KMT2E):c.705ACA[1] (p.Gln236del) rs1206063396
NM_194292.3(SASS6):c.170dup (p.Leu57fs) rs763290832
NM_197968.4(ZMYM2):c.2252G>A (p.Ser751Asn) rs919732254
NM_198060.4(NRAP):c.466_481del (p.Glu156fs) rs1850081412
NM_198123.2(CSMD3):c.1929G>A (p.Thr643=) rs892962663
NM_198173.3(GRHL3):c.318dup (p.Thr107fs) rs2522608482
NM_198428.2:c.2115+21712_2521+234del
NM_198428.3(BBS9):c.1540C>T (p.Arg514Ter) rs1401715737
NM_198428.3(BBS9):c.2153del (p.Gly718fs) rs1369313123
NM_198428.3(BBS9):c.794A>G (p.Glu265Gly) rs1278607147
NM_198503.5(KCNT2):c.2680G>A (p.Asp894Asn) rs1659588692
NM_198503.5(KCNT2):c.2831A>G (p.Tyr944Cys) rs2147868112
NM_198503.5(KCNT2):c.308C>T (p.Pro103Leu) rs759412514
NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp) rs141867330
NM_198586.3(NHLRC1):c.1063C>T (p.Pro355Ser) rs1783733228
NM_198859.4(PRICKLE2):c.1660+20422G>A rs2077107723
NM_198880.3(QRICH1):c.1711G>A (p.Asp571Asn) rs1267494571
NM_198880.3:c.309+9376_1339-2808dup
NM_198904.4(GABRG2):c.1153-8C>G rs771660227
NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu) rs747372679
NM_201525.4(ADGRG1):c.707C>T (p.Thr236Met) rs764823064
NM_203446.3(SYNJ1):c.765G>C (p.Leu255Phe) rs750608040
NM_203447.4(DOCK8):c.1649G>C (p.Arg550Pro) rs886063879
NM_205768.3(ZBTB18):c.1207del (p.Arg403fs) rs2148557361
NM_205768.3(ZBTB18):c.1391G>A (p.Arg464His) rs1558149913
NM_206943.4(LTBP1):c.340C>T (p.Pro114Ser) rs2148156761
NM_207037.2(TCF12):c.*646T>G rs1204777319
NM_207037.2(TCF12):c.1035+4660C>T rs2151950851
NM_207506.3(SAMD12):c.13+16544C>A rs1827958407
NR_023343.3(RNU4ATAC):n.55G>A rs575472572
Single allele

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