NM_006030.4(CACNA2D2):c.160C>T (p.Leu54Phe)
|
rs569543350
|
0.02637
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_015509.4(NECAP1):c.670G>A (p.Asp224Asn)
|
rs2231752
|
0.00491
|
NM_001364905.1(LRBA):c.2674G>A (p.Ala892Thr)
|
rs151098394
|
0.00465
|
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala)
|
rs535090775
|
0.00423
|
NM_021969.3(NR0B2):c.473G>A (p.Ser158Asn)
|
rs151014108
|
0.00413
|
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_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala)
|
rs9282543
|
0.00352
|
NM_016373.4(WWOX):c.332C>G (p.Thr111Ser)
|
rs114755364
|
0.00326
|
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser)
|
rs547565552
|
0.00316
|
NM_016034.5(MRPS2):c.848G>A (p.Gly283Glu)
|
rs138712673
|
0.00308
|
NM_033419.5(PGAP3):c.*559C>T
|
rs183208638
|
0.00300
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00299
|
NM_024704.5(KIF16B):c.1754A>C (p.Asn585Thr)
|
rs114232301
|
0.00291
|
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro)
|
rs35819696
|
0.00289
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00286
|
NM_001384317.1(ZHX3):c.2249A>T (p.Asp750Val)
|
rs147861291
|
0.00270
|
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_000939.4(POMC):c.583G>A (p.Ala195Thr)
|
rs141309351
|
0.00247
|
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_007315.4(STAT1):c.793A>G (p.Ile265Val)
|
rs148775168
|
0.00223
|
NM_014639.4(SKIC3):c.3875C>G (p.Thr1292Ser)
|
rs138956788
|
0.00220
|
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_020759.3(STARD9):c.10480G>A (p.Val3494Ile)
|
rs143444286
|
0.00205
|
NM_001277115.2(DNAH11):c.11839+219T>G
|
rs191753047
|
0.00203
|
NM_181426.2(CCDC39):c.1363-3del
|
rs551191744
|
0.00199
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
NM_002303.6(LEPR):c.371A>G (p.Asp124Gly)
|
rs35573508
|
0.00192
|
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly)
|
rs145164937
|
0.00190
|
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_024740.2(ALG9):c.1603-509A>G
|
rs115136012
|
0.00163
|
NM_001379659.1(ZNF142):c.3640G>A (p.Glu1214Lys)
|
rs201639604
|
0.00161
|
NM_005502.4(ABCA1):c.2543-3C>T
|
rs139457469
|
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_001042413.2(GLIS3):c.496C>G (p.Pro166Ala)
|
rs141467694
|
0.00147
|
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn)
|
rs141553756
|
0.00146
|
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala)
|
rs201210527
|
0.00138
|
NM_194454.3(KRIT1):c.*132T>G
|
rs572414111
|
0.00138
|
NM_194454.3(KRIT1):c.*137del
|
rs543954194
|
0.00138
|
NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)
|
rs111722949
|
0.00135
|
NM_001372.4(DNAH9):c.2066C>T (p.Thr689Met)
|
rs145074455
|
0.00133
|
NM_001378418.1(TCF20):c.*44+8G>A
|
rs141457938
|
0.00133
|
NM_001004320.2(AGMO):c.653C>T (p.Pro218Leu)
|
rs150962030
|
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_022436.3(ABCG5):c.1744G>A (p.Gly582Arg)
|
rs144973796
|
0.00127
|
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met)
|
rs115119858
|
0.00125
|
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_001365999.1(SZT2):c.4727G>A (p.Arg1576His)
|
rs143935839
|
0.00119
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_016219.5(MAN1B1):c.707C>T (p.Pro236Leu)
|
rs147577332
|
0.00118
|
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)
|
rs142000963
|
0.00117
|
NM_001006658.3(CR2):c.1140G>A (p.Met380Ile)
|
rs147638245
|
0.00116
|
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)
|
rs138744839
|
0.00115
|
NM_001002010.5(NT5C3A):c.325A>C (p.Lys109Gln)
|
rs144452782
|
0.00113
|
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)
|
rs3747835
|
0.00113
|
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His)
|
rs143024324
|
0.00111
|
NM_032730.5(RTN4IP1):c.5A>C (p.Glu2Ala)
|
rs138612238
|
0.00110
|
NM_181426.2(CCDC39):c.1781C>T (p.Thr594Ile)
|
rs140505857
|
0.00109
|
NM_000384.3(APOB):c.7612C>T (p.Leu2538=)
|
rs72653093
|
0.00108
|
NM_020070.4(IGLL1):c.616A>T (p.Thr206Ser)
|
rs139491925
|
0.00106
|
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu)
|
rs201889290
|
0.00106
|
NM_000302.4(PLOD1):c.137G>A (p.Arg46His)
|
rs142710681
|
0.00105
|
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile)
|
rs147358733
|
0.00105
|
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)
|
rs147330179
|
0.00104
|
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser)
|
rs1800496
|
0.00103
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
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_001144952.2(SDK2):c.2810G>A (p.Arg937Gln)
|
rs144141099
|
0.00098
|
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val)
|
rs34656239
|
0.00097
|
NM_017837.4(PIGV):c.349A>G (p.Ile117Val)
|
rs142192097
|
0.00097
|
NM_177972.3(TUB):c.1388-10T>G
|
rs150402974
|
0.00097
|
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
|
rs142599919
|
0.00096
|
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_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala)
|
rs138481453
|
0.00096
|
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp)
|
rs141528309
|
0.00096
|
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_133259.4(LRPPRC):c.1295A>G (p.Glu432Gly)
|
rs144732922
|
0.00091
|
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_024700.4(SNIP1):c.174C>A (p.Ser58Arg)
|
rs200160575
|
0.00089
|
NM_001277115.2(DNAH11):c.5761G>A (p.Glu1921Lys)
|
rs199613080
|
0.00088
|
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile)
|
rs199768740
|
0.00087
|
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_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_006005.3(WFS1):c.2195G>A (p.Arg732His)
|
rs149013740
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val)
|
rs202064612
|
0.00083
|
NM_144508.5(KNL1):c.1970C>T (p.Pro657Leu)
|
rs199767066
|
0.00083
|
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met)
|
rs113688475
|
0.00081
|
NM_015213.4(DENND5A):c.1453A>G (p.Lys485Glu)
|
rs146646020
|
0.00081
|
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg)
|
rs114286628
|
0.00080
|
NM_001144952.2(SDK2):c.6383G>A (p.Arg2128Gln)
|
rs144452885
|
0.00079
|
NM_004836.7(EIF2AK3):c.1751G>A (p.Gly584Glu)
|
rs150314450
|
0.00079
|
NM_173630.4(RTTN):c.4615G>A (p.Asp1539Asn)
|
rs201473797
|
0.00079
|
NM_001367624.2(ZNF469):c.7102G>A (p.Gly2368Ser)
|
rs533944505
|
0.00078
|
NM_022437.3(ABCG8):c.1411+8T>A
|
rs201991639
|
0.00078
|
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met)
|
rs117148013
|
0.00078
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
NM_000483.5(APOC2):c.85G>A (p.Asp29Asn)
|
rs147242592
|
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_001165963.4(SCN1A):c.5951C>A (p.Pro1984His)
|
rs146733308
|
0.00074
|
NM_001080397.3(SLC45A1):c.2009G>A (p.Arg670Gln)
|
rs116783930
|
0.00073
|
NM_001244008.2(KIF1A):c.1208-40G>A
|
rs375833834
|
0.00073
|
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_000246.4(CIITA):c.413T>C (p.Val138Ala)
|
rs142469968
|
0.00072
|
NM_152730.6(TBC1D32):c.695G>A (p.Arg232Gln)
|
rs181574808
|
0.00072
|
NM_000236.3(LIPC):c.1226A>C (p.Asp409Ala)
|
rs142036980
|
0.00071
|
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr)
|
rs120074114
|
0.00071
|
NM_000543.5(SMPD1):c.689G>A (p.Arg230His)
|
rs141387770
|
0.00071
|
NM_152783.5(D2HGDH):c.1387G>A (p.Glu463Lys)
|
rs143460342
|
0.00071
|
NM_000527.5(LDLR):c.*2210T>C
|
rs73925118
|
0.00070
|
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser)
|
rs142248228
|
0.00070
|
NM_001042413.2(GLIS3):c.1872C>T (p.Thr624=)
|
rs140309338
|
0.00068
|
NM_001378454.1(ALMS1):c.3290A>G (p.Tyr1097Cys)
|
rs201816596
|
0.00068
|
NM_001379500.1(COL18A1):c.107-12210C>G
|
rs201773944
|
0.00068
|
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr)
|
rs140601319
|
0.00068
|
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu)
|
rs145890213
|
0.00068
|
NM_018230.3(NUP133):c.1216C>T (p.Gln406Ter)
|
rs142513540
|
0.00066
|
NM_024782.3(NHEJ1):c.242G>A (p.Arg81His)
|
rs140362488
|
0.00066
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly)
|
rs201390755
|
0.00065
|
NM_005912.3(MC4R):c.335C>T (p.Thr112Met)
|
rs13447329
|
0.00065
|
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu)
|
rs200266868
|
0.00064
|
NM_025114.4(CEP290):c.1670G>A (p.Arg557His)
|
rs184018899
|
0.00064
|
NM_144596.4(TTC8):c.1327C>T (p.Arg443Trp)
|
rs140698625
|
0.00064
|
NM_203447.4(DOCK8):c.3023G>A (p.Arg1008Gln)
|
rs145844320
|
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_001366110.1(PAX4):c.1013C>T (p.Ala338Val)
|
rs2233583
|
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_203447.4(DOCK8):c.494C>T (p.Ser165Leu)
|
rs146490788
|
0.00061
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_005535.3(IL12RB1):c.1768A>T (p.Ile590Phe)
|
rs186935027
|
0.00060
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_004525.3(LRP2):c.4928G>A (p.Arg1643Gln)
|
rs147688332
|
0.00059
|
NM_003705.5(SLC25A12):c.2015del (p.Ala672fs)
|
rs780650245
|
0.00058
|
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_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
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_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_002303.6(LEPR):c.2918C>A (p.Thr973Asn)
|
rs142143966
|
0.00055
|
NM_006295.3(VARS1):c.3650G>A (p.Arg1217His)
|
rs368075745
|
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_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_001267550.2(TTN):c.57370G>A (p.Val19124Ile)
|
rs142841000
|
0.00051
|
NM_022552.5(DNMT3A):c.640-1439G>A
|
rs150451861
|
0.00051
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala)
|
rs144840779
|
0.00050
|
NM_001386140.1(MTTP):c.1874C>T (p.Pro625Leu)
|
rs146045390
|
0.00049
|
NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu)
|
rs201685731
|
0.00049
|
NM_000162.5(GCK):c.483+26C>A
|
rs142668032
|
0.00048
|
NM_001349.4(DARS1):c.403G>A (p.Val135Ile)
|
rs140573664
|
0.00048
|
NM_004963.4(GUCY2C):c.1562A>G (p.Asn521Ser)
|
rs143367522
|
0.00048
|
NM_014141.6(CNTNAP2):c.479G>A (p.Arg160His)
|
rs138738227
|
0.00048
|
NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)
|
rs141098495
|
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_001080397.3(SLC45A1):c.1178G>A (p.Gly393Asp)
|
rs199862899
|
0.00046
|
NM_015370.2(C22orf31):c.53G>A (p.Arg18Gln)
|
rs140235057
|
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_198525.3(KIF7):c.2672G>C (p.Arg891Thr)
|
rs143250090
|
0.00046
|
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr)
|
rs144900514
|
0.00045
|
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr)
|
rs369777874
|
0.00045
|
NM_145207.3(AFG2A):c.637G>A (p.Asp213Asn)
|
rs139066705
|
0.00045
|
NM_173728.4(ARHGEF15):c.80G>A (p.Arg27His)
|
rs199663714
|
0.00045
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_003809.3(TNFSF12):c.43G>A (p.Glu15Lys)
|
rs768061768
|
0.00044
|
NM_015331.3(NCSTN):c.996+7G>A
|
rs202046846
|
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_020987.5(ANK3):c.11678G>C (p.Ser3893Thr)
|
rs12260663
|
0.00044
|
NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)
|
rs104895564
|
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_144670.6(A2ML1):c.3967A>C (p.Asn1323His)
|
rs200176373
|
0.00043
|
NM_177972.3(TUB):c.358G>A (p.Gly120Ser)
|
rs146650842
|
0.00043
|
NM_001270974.2(HYDIN):c.488G>A (p.Arg163Gln)
|
rs201503269
|
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_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_032634.4(PIGO):c.1277C>A (p.Ala426Asp)
|
rs147098410
|
0.00040
|
NM_033028.5(BBS4):c.24+8C>T
|
rs200055760
|
0.00040
|
NM_000718.4(CACNA1B):c.5455G>A (p.Ala1819Thr)
|
rs200122209
|
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_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000755.5(CRAT):c.817C>T (p.Arg273Trp)
|
rs141122671
|
0.00038
|
NM_001365999.1(SZT2):c.6185G>A (p.Arg2062Gln)
|
rs200443293
|
0.00038
|
NM_001606.5(ABCA2):c.5026G>A (p.Gly1676Ser)
|
rs184422644
|
0.00038
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
NM_001378454.1(ALMS1):c.4316A>C (p.Tyr1439Ser)
|
rs201971114
|
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_000414.4(HSD17B4):c.2176C>G (p.Leu726Val)
|
rs145728297
|
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_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
|
rs150851401
|
0.00035
|
NM_001080517.3(SETD5):c.2866A>T (p.Thr956Ser)
|
rs201868415
|
0.00035
|
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg)
|
rs143264567
|
0.00035
|
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys)
|
rs142542453
|
0.00035
|
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys)
|
rs199946797
|
0.00035
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
NM_001367624.2(ZNF469):c.8996G>T (p.Gly2999Val)
|
rs273585625
|
0.00034
|
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu)
|
rs559917218
|
0.00034
|
NM_194449.4(PHLPP1):c.1038C>G (p.Asp346Glu)
|
rs769959686
|
0.00034
|
NM_000041.4(APOE):c.805C>G (p.Arg269Gly)
|
rs267606661
|
0.00032
|
NM_001003841.3(SLC6A19):c.1606G>A (p.Val536Met)
|
rs145250153
|
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_001365999.1(SZT2):c.4963C>T (p.Pro1655Ser)
|
rs144139818
|
0.00031
|
NM_002139.4(RBMX):c.997G>T (p.Asp333Tyr)
|
rs148934011
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)
|
rs121913563
|
0.00031
|
NM_006005.3(WFS1):c.1693C>G (p.Leu565Val)
|
rs200058166
|
0.00031
|
NM_006279.5(ST3GAL3):c.118+36C>G
|
rs149404491
|
0.00031
|
NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)
|
rs145602077
|
0.00031
|
NM_206933.4(USH2A):c.14519T>C (p.Leu4840Pro)
|
rs143275144
|
0.00031
|
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_001371596.2(MFSD8):c.1136T>C (p.Phe379Ser)
|
rs191172038
|
0.00030
|
NM_015662.3(IFT172):c.1523G>A (p.Arg508His)
|
rs144868723
|
0.00030
|
NM_018136.5(ASPM):c.1304C>T (p.Ser435Leu)
|
rs150684410
|
0.00030
|
NM_145886.4(PIDD1):c.1173G>A (p.Gln391=)
|
rs372742755
|
0.00030
|
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu)
|
rs137906617
|
0.00029
|
NM_001626.6(AKT2):c.623G>A (p.Arg208Lys)
|
rs35817154
|
0.00029
|
NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)
|
rs202142344
|
0.00029
|
NM_013314.4(BLNK):c.94A>T (p.Ile32Leu)
|
rs191065660
|
0.00029
|
NM_014141.6(CNTNAP2):c.1879G>A (p.Val627Ile)
|
rs147447659
|
0.00029
|
NM_017757.3(ZNF407):c.6288G>C (p.Gln2096His)
|
rs373510945
|
0.00029
|
NM_017780.4(CHD7):c.6250A>G (p.Ser2084Gly)
|
rs201083157
|
0.00029
|
NM_018136.5(ASPM):c.1141G>T (p.Asp381Tyr)
|
rs147055570
|
0.00029
|
NM_000238.4(KCNH2):c.2707G>A (p.Gly903Arg)
|
rs199473669
|
0.00028
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
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_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_138615.3(DHX30):c.2575+2dup
|
rs773595533
|
0.00028
|
NM_152564.5(VPS13B):c.2356A>G (p.Ile786Val)
|
rs202052403
|
0.00028
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_001013839.4(EXOC7):c.1169A>T (p.Gln390Leu)
|
rs138515854
|
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_152783.5(D2HGDH):c.1184G>A (p.Arg395Gln)
|
rs201921601
|
0.00027
|
NM_000156.6(GAMT):c.570+4C>T
|
rs199967562
|
0.00026
|
NM_001042413.2(GLIS3):c.1200C>G (p.His400Gln)
|
rs374943049
|
0.00026
|
NM_001127644.2(GABRA1):c.-258T>C
|
rs183280626
|
0.00026
|
NM_001130053.5(EEF1D):c.1156G>A (p.Asp386Asn)
|
rs140890236
|
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_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)
|
rs139661242
|
0.00025
|
NM_016580.4(PCDH12):c.152A>G (p.Gln51Arg)
|
rs138473035
|
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_172201.2(KCNE2):c.80G>A (p.Arg27His)
|
rs148968498
|
0.00025
|
NM_000163.5(GHR):c.718T>C (p.Tyr240His)
|
rs143814221
|
0.00024
|
NM_000744.7(CHRNA4):c.1169G>A (p.Gly390Glu)
|
rs121912268
|
0.00024
|
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln)
|
rs147182402
|
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_005045.4(RELN):c.6278A>C (p.His2093Pro)
|
rs149152189
|
0.00024
|
NM_020759.3(STARD9):c.1771-2A>T
|
rs763967566
|
0.00024
|
NM_032776.3(JMJD1C):c.4913C>T (p.Ser1638Leu)
|
rs143177790
|
0.00024
|
NM_000236.3(LIPC):c.738_739dup (p.Gly247fs)
|
rs749932377
|
0.00023
|
NM_000744.7(CHRNA4):c.1538G>A (p.Arg513His)
|
rs868845088
|
0.00023
|
NM_001371986.1(UNC80):c.9877G>A (p.Glu3293Lys)
|
rs199783352
|
0.00023
|
NM_006059.4(LAMC3):c.340T>G (p.Tyr114Asp)
|
rs764924966
|
0.00023
|
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter)
|
rs541943893
|
0.00023
|
NM_018451.5(CENPJ):c.3080A>G (p.Gln1027Arg)
|
rs141237492
|
0.00023
|
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr)
|
rs149441561
|
0.00023
|
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_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_020971.3(SPTBN4):c.1798C>T (p.Arg600Cys)
|
rs148286750
|
0.00022
|
NM_022095.4(ZNF335):c.808C>T (p.Arg270Cys)
|
rs145110365
|
0.00022
|
NM_024589.3(ROGDI):c.859T>C (p.Phe287Leu)
|
rs149138180
|
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_000065.5(C6):c.143G>A (p.Arg48Lys)
|
rs145422926
|
0.00021
|
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser)
|
rs140202046
|
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_001379659.1(ZNF142):c.4880C>T (p.Pro1627Leu)
|
rs866857892
|
0.00021
|
NM_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)
|
rs191233787
|
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_014159.7(SETD2):c.3659C>A (p.Thr1220Asn)
|
rs764195998
|
0.00021
|
NM_020208.4(SLC6A20):c.1447G>A (p.Val483Met)
|
rs146575685
|
0.00021
|
NM_170784.3(MKKS):c.1363G>A (p.Glu455Lys)
|
rs149626732
|
0.00021
|
NM_173630.4(RTTN):c.1741A>G (p.Ser581Gly)
|
rs375800180
|
0.00021
|
NM_177972.3(TUB):c.364G>A (p.Ala122Thr)
|
rs201324153
|
0.00021
|
NM_001042681.2(RERE):c.3094C>T (p.Pro1032Ser)
|
rs560145297
|
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_005502.4(ABCA1):c.6118A>G (p.Lys2040Glu)
|
rs150283412
|
0.00020
|
NM_018941.4(CLN8):c.619C>G (p.Leu207Val)
|
rs151334741
|
0.00020
|
NM_022455.5(NSD1):c.3692G>A (p.Gly1231Glu)
|
rs141065357
|
0.00020
|
NM_152564.5(VPS13B):c.2377C>G (p.Leu793Val)
|
rs141638933
|
0.00020
|
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_001004127.3(ALG11):c.406C>T (p.Arg136Cys)
|
rs150101415
|
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_001290043.2(TAP2):c.1655A>G (p.Glu552Gly)
|
rs151064661
|
0.00019
|
NM_001372051.1(CASP8):c.443A>G (p.Lys148Arg)
|
rs148697064
|
0.00019
|
NM_001376.5(DYNC1H1):c.10522C>A (p.Leu3508Ile)
|
rs149496322
|
0.00019
|
NM_001379500.1(COL18A1):c.1261C>T (p.Pro421Ser)
|
rs375265466
|
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_005199.5(CHRNG):c.439C>T (p.Arg147Cys)
|
rs754928609
|
0.00019
|
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)
|
rs201352584
|
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_019066.5(MAGEL2):c.717G>A (p.Met239Ile)
|
rs552582918
|
0.00019
|
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn)
|
rs767667188
|
0.00019
|
NM_206937.2(LIG4):c.712A>G (p.Ile238Val)
|
rs149012859
|
0.00019
|
NM_001081.4(CUBN):c.8084G>A (p.Gly2695Asp)
|
rs142667203
|
0.00018
|
NM_001348716.2(KDM6B):c.2703_2705del (p.Leu902del)
|
rs755422164
|
0.00018
|
NM_005184.4(CALM3):c.421+4A>G
|
rs373529765
|
0.00018
|
NM_006642.5(SDCCAG8):c.833G>A (p.Arg278His)
|
rs200657425
|
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_000051.4(ATM):c.7552C>T (p.Pro2518Ser)
|
rs374876799
|
0.00017
|
NM_000271.5(NPC1):c.2524T>C (p.Phe842Leu)
|
rs190298665
|
0.00017
|
NM_001008537.3(NEXMIF):c.4048G>A (p.Asp1350Asn)
|
rs200982385
|
0.00017
|
NM_001080432.3(FTO):c.238C>T (p.Arg80Trp)
|
rs140101381
|
0.00017
|
NM_001127222.2(CACNA1A):c.7327G>A (p.Ala2443Thr)
|
rs533884784
|
0.00017
|
NM_001267550.2(TTN):c.50212G>A (p.Glu16738Lys)
|
rs148018042
|
0.00017
|
NM_001330260.2(SCN8A):c.3148G>A (p.Gly1050Ser)
|
rs202006479
|
0.00017
|
NM_002024.6(FMR1):c.413G>A (p.Arg138Gln)
|
rs200163413
|
0.00017
|
NM_138711.6(PPARG):c.391-3C>T
|
rs370830238
|
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_001040616.3(LINS1):c.725C>G (p.Thr242Ser)
|
rs149958643
|
0.00016
|
NM_001080.3(ALDH5A1):c.1308T>G (p.His436Gln)
|
rs199500997
|
0.00016
|
NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)
|
rs201139273
|
0.00016
|
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr)
|
rs373727636
|
0.00016
|
NM_001277115.2(DNAH11):c.2038G>A (p.Asp680Asn)
|
rs201121146
|
0.00016
|
NM_001287.6(CLCN7):c.2074G>A (p.Val692Met)
|
rs781763863
|
0.00016
|
NM_001927.4(DES):c.643G>A (p.Val215Met)
|
rs144908941
|
0.00016
|
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu)
|
rs141834182
|
0.00016
|
NM_005219.5(DIAPH1):c.1269C>G (p.Asp423Glu)
|
rs367981585
|
0.00016
|
NM_005502.4(ABCA1):c.1765G>A (p.Val589Ile)
|
rs200928212
|
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_017934.7(PHIP):c.5263G>C (p.Glu1755Gln)
|
rs563243550
|
0.00016
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
NM_032730.5(RTN4IP1):c.254C>T (p.Pro85Leu)
|
rs193121821
|
0.00016
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)
|
rs200329273
|
0.00016
|
NM_170784.3(MKKS):c.1028G>A (p.Ser343Asn)
|
rs558813240
|
0.00016
|
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_001267550.2(TTN):c.14869A>C (p.Thr4957Pro)
|
rs780405420
|
0.00015
|
NM_001378454.1(ALMS1):c.8108C>T (p.Pro2703Leu)
|
rs199604280
|
0.00015
|
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val)
|
rs202228570
|
0.00015
|
NM_003079.5(SMARCE1):c.955G>A (p.Val319Ile)
|
rs140414666
|
0.00015
|
NM_004525.3(LRP2):c.8132G>A (p.Arg2711His)
|
rs190037522
|
0.00015
|
NM_004713.6(NEMF):c.1744+6A>G
|
rs368259188
|
0.00015
|
NM_005720.4(ARPC1B):c.932C>G (p.Ser311Cys)
|
rs200946215
|
0.00015
|
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys)
|
rs374549966
|
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_000352.6(ABCC8):c.823-8C>T
|
rs201000679
|
0.00014
|
NM_000939.4(POMC):c.26C>T (p.Ser9Leu)
|
rs139750421
|
0.00014
|
NM_001077350.3(NPRL3):c.251T>G (p.Phe84Cys)
|
rs560167568
|
0.00014
|
NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)
|
rs774604596
|
0.00014
|
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn)
|
rs192468365
|
0.00014
|
NM_001378120.1(MBD5):c.826C>T (p.Pro276Ser)
|
rs376756158
|
0.00014
|
NM_001378454.1(ALMS1):c.11953A>G (p.Ile3985Val)
|
rs201728850
|
0.00014
|
NM_001387690.1(KATNAL2):c.905T>C (p.Leu302Ser)
|
rs540379826
|
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_002471.4(MYH6):c.346-2A>G
|
rs141187241
|
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_015910.7(WDPCP):c.1079C>T (p.Ser360Leu)
|
rs141011629
|
0.00014
|
NM_018896.5(CACNA1G):c.3197C>T (p.Ser1066Leu)
|
rs577659325
|
0.00014
|
NM_018896.5(CACNA1G):c.6958G>T (p.Gly2320Cys)
|
rs760308715
|
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_024649.5(BBS1):c.200G>A (p.Arg67His)
|
rs145718265
|
0.00014
|
NM_152564.5(VPS13B):c.3083-8G>A
|
rs201973611
|
0.00014
|
NM_174936.4(PCSK9):c.277C>T (p.Arg93Cys)
|
rs151193009
|
0.00014
|
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp)
|
rs199472776
|
0.00013
|
NM_001042413.2(GLIS3):c.2339G>A (p.Arg780Gln)
|
rs200694226
|
0.00013
|
NM_001083961.2(WDR62):c.121T>A (p.Cys41Ser)
|
rs761479779
|
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_001385012.1(NBEA):c.6743A>G (p.Lys2248Arg)
|
rs757249160
|
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_003239.5(TGFB3):c.1169A>T (p.Tyr390Phe)
|
rs996297395
|
0.00013
|
NM_016529.6(ATP8A2):c.2896A>G (p.Ile966Val)
|
rs202061089
|
0.00013
|
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp)
|
rs527295360
|
0.00013
|
NM_018129.4(PNPO):c.322C>T (p.Arg108Cys)
|
rs746311862
|
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_139318.5(KCNH5):c.1579A>T (p.Ile527Phe)
|
rs149561461
|
0.00013
|
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu)
|
rs148502464
|
0.00012
|
NM_001077350.3(NPRL3):c.997G>A (p.Val333Ile)
|
rs367664536
|
0.00012
|
NM_001077418.3(TMEM231):c.621C>G (p.Asp207Glu)
|
rs372018476
|
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_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser)
|
rs187887110
|
0.00012
|
NM_005618.4(DLL1):c.406G>A (p.Ala136Thr)
|
rs146990317
|
0.00012
|
NM_006734.4(HIVEP2):c.4276C>T (p.Pro1426Ser)
|
rs373621115
|
0.00012
|
NM_012452.3(TNFRSF13B):c.58C>T (p.Arg20Cys)
|
rs200013015
|
0.00012
|
NM_014495.4(ANGPTL3):c.1028A>G (p.His343Arg)
|
rs199555921
|
0.00012
|
NM_014712.3(SETD1A):c.3236C>T (p.Pro1079Leu)
|
rs200812185
|
0.00012
|
NM_018013.4(SOBP):c.622G>A (p.Ala208Thr)
|
rs374186706
|
0.00012
|
NM_152564.5(VPS13B):c.11312C>T (p.Ser3771Leu)
|
rs142516047
|
0.00012
|
NM_173648.4(CCDC141):c.538C>T (p.Arg180Trp)
|
rs768401425
|
0.00012
|
NM_178161.3(PTF1A):c.44C>T (p.Ala15Val)
|
rs140097468
|
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_000384.3(APOB):c.4111G>A (p.Ala1371Thr)
|
rs780170292
|
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_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_001386298.1(CIC):c.6292G>A (p.Val2098Met)
|
rs202242046
|
0.00011
|
NM_001393530.1(MATN4):c.1688-7C>A
|
rs200891394
|
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_005912.3(MC4R):c.806T>A (p.Ile269Asn)
|
rs79783591
|
0.00011
|
NM_006030.4(CACNA2D2):c.391G>A (p.Val131Met)
|
rs199936910
|
0.00011
|
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp)
|
rs776156836
|
0.00011
|
NM_015275.3(WASHC4):c.154T>G (p.Ser52Ala)
|
rs376604258
|
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_017777.4(MKS1):c.1601G>A (p.Arg534Gln)
|
rs199910690
|
0.00011
|
NM_020719.3(PRR12):c.2123C>T (p.Ala708Val)
|
rs531265357
|
0.00011
|
NM_022437.3(ABCG8):c.1549T>C (p.Trp517Arg)
|
rs142165666
|
0.00011
|
NM_024589.3(ROGDI):c.691A>G (p.Met231Val)
|
rs137934107
|
0.00011
|
NM_024685.4(BBS10):c.1595G>A (p.Arg532Lys)
|
rs142297424
|
0.00011
|
NM_030912.3(TRIM8):c.1456C>G (p.Pro486Ala)
|
rs552806334
|
0.00011
|
NM_033026.6(PCLO):c.9008G>T (p.Gly3003Val)
|
rs201925292
|
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_000293.3(PHKB):c.1378A>T (p.Ser460Cys)
|
rs201217052
|
0.00010
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
0.00010
|
NM_000384.3(APOB):c.400G>T (p.Ala134Ser)
|
rs368321279
|
0.00010
|
NM_001080453.3(INTS1):c.3679G>C (p.Glu1227Gln)
|
rs758158889
|
0.00010
|
NM_001148.6(ANK2):c.9116A>G (p.Asp3039Gly)
|
rs140539843
|
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_001378454.1(ALMS1):c.4249C>T (p.Arg1417Trp)
|
rs199615803
|
0.00010
|
NM_001385012.1(NBEA):c.5279G>A (p.Cys1760Tyr)
|
rs372882596
|
0.00010
|
NM_002293.4(LAMC1):c.1640T>C (p.Ile547Thr)
|
rs147837140
|
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_005502.4(ABCA1):c.6599G>A (p.Arg2200Gln)
|
rs751669145
|
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_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_139318.5(KCNH5):c.2789C>T (p.Ala930Val)
|
rs562140660
|
0.00010
|
NM_144596.4(TTC8):c.1051C>T (p.Arg351Trp)
|
rs755412340
|
0.00010
|
NM_145886.4(PIDD1):c.2042-2A>G
|
rs199752248
|
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_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)
|
rs761837954
|
0.00009
|
NM_000168.6(GLI3):c.3734A>G (p.His1245Arg)
|
rs372740903
|
0.00009
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_001009944.3(PKD1):c.5960G>A (p.Gly1987Asp)
|
rs527929848
|
0.00009
|
NM_001130438.3(SPTAN1):c.701A>G (p.Asn234Ser)
|
rs752578570
|
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_001264.5(CDSN):c.239G>A (p.Ser80Asn)
|
rs746319078
|
0.00009
|
NM_001267550.2(TTN):c.5314A>G (p.Ser1772Gly)
|
rs150725992
|
0.00009
|
NM_001365999.1(SZT2):c.6779G>A (p.Arg2260Gln)
|
rs374546223
|
0.00009
|
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu)
|
rs914898490
|
0.00009
|
NM_001379291.1(BRD4):c.898A>G (p.Ile300Val)
|
rs200397485
|
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_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_004525.3(LRP2):c.7514G>A (p.Arg2505His)
|
rs371708810
|
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_005739.4(RASGRP1):c.1159T>C (p.Tyr387His)
|
rs750396457
|
0.00009
|
NM_005853.6(IRX5):c.800C>G (p.Pro267Arg)
|
rs770467831
|
0.00009
|
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala)
|
rs376208769
|
0.00009
|
NM_006267.5(RANBP2):c.6431G>A (p.Arg2144Gln)
|
rs550357048
|
0.00009
|
NM_006922.4(SCN3A):c.2391+3A>G
|
rs369416840
|
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_015559.3(SETBP1):c.3593C>T (p.Pro1198Leu)
|
rs200960707
|
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_032119.4(ADGRV1):c.8995C>G (p.Gln2999Glu)
|
rs200503628
|
0.00009
|
NM_032898.5(CEP19):c.283C>T (p.Arg95Trp)
|
rs201163650
|
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_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.4927A>C (p.Ser1643Arg)
|
rs538862924
|
0.00009
|
NM_182641.4(BPTF):c.6409C>A (p.Pro2137Thr)
|
rs200697649
|
0.00009
|
NM_205768.3(ZBTB18):c.896A>G (p.Tyr299Cys)
|
rs528142333
|
0.00009
|
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
NM_001008537.3(NEXMIF):c.685G>T (p.Asp229Tyr)
|
rs139459124
|
0.00008
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
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_001690.4(ATP6V1A):c.596T>C (p.Val199Ala)
|
rs138543954
|
0.00008
|
NM_002508.3(NID1):c.614C>T (p.Thr205Met)
|
rs754456881
|
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_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_016604.4(KDM3B):c.950G>T (p.Gly317Val)
|
rs868682027
|
0.00008
|
NM_018100.4(EFHC1):c.89C>T (p.Thr30Met)
|
rs200435907
|
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_052867.4(NALCN):c.4961G>A (p.Arg1654Gln)
|
rs199629052
|
0.00008
|
NM_000229.2(LCAT):c.35C>T (p.Thr12Met)
|
rs560140762
|
0.00007
|
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)
|
rs376080397
|
0.00007
|
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr)
|
rs369310292
|
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_001061.7(TBXAS1):c.1420G>A (p.Ala474Thr)
|
rs535281830
|
0.00007
|
NM_001083961.2(WDR62):c.2765G>A (p.Arg922His)
|
rs749718711
|
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_001267550.2(TTN):c.33340+5A>C
|
rs373367032
|
0.00007
|
NM_001330078.2(NRXN1):c.2437C>T (p.Arg813Cys)
|
rs201150987
|
0.00007
|
NM_001376.5(DYNC1H1):c.3704A>G (p.Gln1235Arg)
|
rs867503066
|
0.00007
|
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe)
|
rs555552377
|
0.00007
|
NM_001386298.1(CIC):c.2182C>T (p.Pro728Ser)
|
rs970794792
|
0.00007
|
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala)
|
rs759520932
|
0.00007
|
NM_005502.4(ABCA1):c.4037G>A (p.Gly1346Glu)
|
rs762770081
|
0.00007
|
NM_005535.3(IL12RB1):c.284C>T (p.Thr95Ile)
|
rs778062013
|
0.00007
|
NM_006060.6(IKZF1):c.1076C>T (p.Pro359Leu)
|
rs752909152
|
0.00007
|
NM_006618.5(KDM5B):c.854A>G (p.Lys285Arg)
|
rs971208277
|
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_015559.3(SETBP1):c.487-1G>A
|
rs147805077
|
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_024704.5(KIF16B):c.3550A>G (p.Ile1184Val)
|
rs140491944
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
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_000171.4(GLRA1):c.1325G>A (p.Arg442His)
|
rs200130685
|
0.00006
|
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_000352.6(ABCC8):c.647G>A (p.Arg216His)
|
rs199702708
|
0.00006
|
NM_000384.3(APOB):c.12731C>G (p.Ser4244Cys)
|
rs1052000878
|
0.00006
|
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val)
|
rs200034452
|
0.00006
|
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)
|
rs149306841
|
0.00006
|
NM_000660.7(TGFB1):c.399G>A (p.Met133Ile)
|
rs201567874
|
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_001035.3(RYR2):c.8437-1390C>T
|
rs1402357546
|
0.00006
|
NM_001040142.2(SCN2A):c.3529C>T (p.Arg1177Trp)
|
rs115231482
|
0.00006
|
NM_001042413.2(GLIS3):c.2494A>G (p.Lys832Glu)
|
rs779354091
|
0.00006
|
NM_001127208.3(TET2):c.5305G>C (p.Ala1769Pro)
|
rs539389221
|
0.00006
|
NM_001127222.2(CACNA1A):c.6400C>T (p.Arg2134Cys)
|
rs121908235
|
0.00006
|
NM_001134407.3(GRIN2A):c.1008-22395A>T
|
rs909654359
|
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.54518C>A (p.Pro18173Gln)
|
rs794729458
|
0.00006
|
NM_001267550.2(TTN):c.55435G>A (p.Val18479Ile)
|
rs559712998
|
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_001346249.2(RALGAPA1):c.3227A>T (p.Asp1076Val)
|
rs533902723
|
0.00006
|
NM_001348716.2(KDM6B):c.1588G>A (p.Ala530Thr)
|
rs751046746
|
0.00006
|
NM_001365999.1(SZT2):c.7514G>A (p.Arg2505His)
|
rs374896394
|
0.00006
|
NM_001366385.1(CARD14):c.681T>G (p.Tyr227Ter)
|
rs369755459
|
0.00006
|
NM_001367479.1(DNAH14):c.12638G>A (p.Trp4213Ter)
|
rs761295153
|
0.00006
|
NM_001367561.1(DOCK7):c.2035C>T (p.Arg679Trp)
|
rs759877282
|
0.00006
|
NM_001367561.1(DOCK7):c.692G>A (p.Arg231His)
|
rs757667036
|
0.00006
|
NM_001378418.1(TCF20):c.3943G>A (p.Asp1315Asn)
|
rs929676419
|
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_001397.3(ECE1):c.877G>A (p.Gly293Ser)
|
rs145311594
|
0.00006
|
NM_001735.3(C5):c.4654G>A (p.Ala1552Thr)
|
rs147051026
|
0.00006
|
NM_002693.3(POLG):c.2218A>G (p.Asn740Asp)
|
rs78347903
|
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_004204.5(PIGQ):c.65G>A (p.Arg22Gln)
|
rs372361502
|
0.00006
|
NM_004519.4(KCNQ3):c.214G>A (p.Gly72Ser)
|
rs759310149
|
0.00006
|
NM_004523.4(KIF11):c.2018A>T (p.Lys673Met)
|
rs1235363221
|
0.00006
|
NM_005121.3(MED13):c.2291G>A (p.Arg764His)
|
rs777627564
|
0.00006
|
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val)
|
rs753324965
|
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_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
NM_006766.5(KAT6A):c.2911C>T (p.Arg971Cys)
|
rs146209687
|
0.00006
|
NM_006772.3(SYNGAP1):c.1904A>G (p.Asn635Ser)
|
rs775566992
|
0.00006
|
NM_012154.5(AGO2):c.337-7C>T
|
rs368945218
|
0.00006
|
NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu)
|
rs776119333
|
0.00006
|
NM_014159.7(SETD2):c.1343G>A (p.Arg448Gln)
|
rs564020755
|
0.00006
|
NM_014159.7(SETD2):c.5829C>G (p.Asn1943Lys)
|
rs369421455
|
0.00006
|
NM_014363.6(SACS):c.110G>A (p.Arg37His)
|
rs866539724
|
0.00006
|
NM_014712.3(SETD1A):c.4950+3G>A
|
rs369236961
|
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_019842.4(KCNQ5):c.2354T>C (p.Val785Ala)
|
rs747610703
|
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_020822.3(KCNT1):c.32G>A (p.Gly11Glu)
|
rs1003586835
|
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_022114.4(PRDM16):c.3352G>A (p.Val1118Met)
|
rs542279737
|
0.00006
|
NM_022168.4(IFIH1):c.2299del (p.Thr767fs)
|
rs759430873
|
0.00006
|
NM_024072.4(DDX54):c.1381C>G (p.Leu461Val)
|
rs754799242
|
0.00006
|
NM_024072.4(DDX54):c.2500C>T (p.Arg834Cys)
|
rs150324746
|
0.00006
|
NM_024611.6(ICE2):c.943+543C>G
|
rs999661043
|
0.00006
|
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser)
|
rs755782127
|
0.00006
|
NM_024704.5(KIF16B):c.2564A>G (p.Gln855Arg)
|
rs201539410
|
0.00006
|
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser)
|
rs145732429
|
0.00006
|
NM_030948.6(PHACTR1):c.664+2178C>G
|
rs761790090
|
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_032578.4(MYPN):c.1130+3A>C
|
rs770005365
|
0.00006
|
NM_032737.4(LMNB2):c.742C>T (p.Arg248Trp)
|
rs767801199
|
0.00006
|
NM_033028.5(BBS4):c.437T>C (p.Ile146Thr)
|
rs769886837
|
0.00006
|
NM_033453.4(ITPA):c.513G>C (p.Glu171Asp)
|
rs748840853
|
0.00006
|
NM_130797.4(DPP6):c.1565A>G (p.Asn522Ser)
|
rs774538369
|
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_172071.4(RC3H1):c.2146G>A (p.Glu716Lys)
|
rs138013535
|
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_194449.4(PHLPP1):c.2627C>T (p.Ala876Val)
|
rs541150099
|
0.00006
|
NM_198076.6(COX20):c.197T>G (p.Phe66Cys)
|
rs147700538
|
0.00006
|
NM_198123.2(CSMD3):c.8282A>T (p.Glu2761Val)
|
rs779538842
|
0.00006
|
NM_199242.3(UNC13D):c.1532A>C (p.Lys511Thr)
|
rs771633331
|
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_000335.5(SCN5A):c.1654G>T (p.Gly552Trp)
|
rs3918389
|
0.00005
|
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)
|
rs761748692
|
0.00005
|
NM_000384.3(APOB):c.12581T>C (p.Ile4194Thr)
|
rs570782024
|
0.00005
|
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser)
|
rs183398286
|
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_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_001036.6(RYR3):c.13717G>C (p.Glu4573Gln)
|
rs763523192
|
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_001130438.3(SPTAN1):c.1806+4A>G
|
rs770046688
|
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.59926C>T (p.His19976Tyr)
|
rs727503588
|
0.00005
|
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln)
|
rs369292052
|
0.00005
|
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His)
|
rs397517744
|
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.727C>A (p.His243Asn)
|
rs768889806
|
0.00005
|
NM_001365925.2(NLGN1):c.2532G>A (p.Ter844=)
|
rs568763160
|
0.00005
|
NM_001365999.1(SZT2):c.3788G>A (p.Arg1263Gln)
|
rs149633993
|
0.00005
|
NM_001846.4(COL4A2):c.2477C>G (p.Pro826Arg)
|
rs1020176452
|
0.00005
|
NM_002508.3(NID1):c.1663C>T (p.Arg555Cys)
|
rs751460426
|
0.00005
|
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser)
|
rs544407449
|
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_004415.4(DSP):c.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)
|
rs757915171
|
0.00005
|
NM_005097.4(LGI1):c.310G>A (p.Asp104Asn)
|
rs145675377
|
0.00005
|
NM_006059.4(LAMC3):c.1757T>C (p.Leu586Pro)
|
rs568225117
|
0.00005
|
NM_006922.4(SCN3A):c.4186G>A (p.Val1396Met)
|
rs200031995
|
0.00005
|
NM_007118.4(TRIO):c.8120G>A (p.Arg2707Gln)
|
rs768858988
|
0.00005
|
NM_007327.4(GRIN1):c.467G>A (p.Arg156His)
|
rs762490192
|
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_014159.7(SETD2):c.4376G>A (p.Arg1459Gln)
|
rs777992018
|
0.00005
|
NM_016013.4(NDUFAF1):c.457A>G (p.Lys153Glu)
|
rs571701028
|
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_020151.4(STARD7):c.361C>T (p.Pro121Ser)
|
rs200880792
|
0.00005
|
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala)
|
rs375038986
|
0.00005
|
NM_030632.3(ASXL3):c.5309G>A (p.Gly1770Glu)
|
rs776403744
|
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_033629.6(TREX1):c.1A>G (p.Met1Val)
|
rs761165865
|
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_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_153766.3(KCNJ1):c.89G>A (p.Cys30Tyr)
|
rs764078087
|
0.00005
|
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)
|
rs202073574
|
0.00005
|
NM_177972.3(TUB):c.164G>A (p.Arg55Gln)
|
rs371844684
|
0.00005
|
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val)
|
rs772155104
|
0.00005
|
NM_000026.4(ADSL):c.1355G>A (p.Arg452His)
|
rs775671027
|
0.00004
|
NM_000138.5(FBN1):c.6052G>A (p.Val2018Ile)
|
rs363802
|
0.00004
|
NM_000170.3(GLDC):c.2362C>G (p.Leu788Val)
|
rs139300551
|
0.00004
|
NM_000171.4(GLRA1):c.1295T>C (p.Met432Thr)
|
rs1284734503
|
0.00004
|
NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp)
|
rs769409620
|
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_000384.3(APOB):c.3904T>C (p.Phe1302Leu)
|
rs201926213
|
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_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.5042A>G (p.Lys1681Arg)
|
rs200288877
|
0.00004
|
NM_001036.6(RYR3):c.7855A>G (p.Thr2619Ala)
|
rs201310633
|
0.00004
|
NM_001040142.2(SCN2A):c.1399G>A (p.Ala467Thr)
|
rs745774658
|
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.589G>A (p.Val197Met)
|
rs768219929
|
0.00004
|
NM_001083962.2(TCF4):c.1283G>T (p.Gly428Val)
|
rs186508321
|
0.00004
|
NM_001100913.3(PACS2):c.1072C>T (p.Arg358Trp)
|
rs1488845742
|
0.00004
|
NM_001110556.2(FLNA):c.1768G>A (p.Val590Ile)
|
rs782776511
|
0.00004
|
NM_001113491.2(SEPTIN9):c.1219C>T (p.Arg407Cys)
|
rs1294350608
|
0.00004
|
NM_001127222.2(CACNA1A):c.2881C>T (p.His961Tyr)
|
rs1406066197
|
0.00004
|
NM_001127222.2(CACNA1A):c.5945G>A (p.Arg1982Gln)
|
rs745775887
|
0.00004
|
NM_001127392.3(MYRF):c.2674A>G (p.Thr892Ala)
|
rs1192195663
|
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_001161352.2(KCNMA1):c.122C>T (p.Ser41Phe)
|
rs766759815
|
0.00004
|
NM_001161352.2(KCNMA1):c.2122C>T (p.Arg708Trp)
|
rs200299051
|
0.00004
|
NM_001161352.2(KCNMA1):c.3499G>A (p.Val1167Met)
|
rs376264061
|
0.00004
|
NM_001166114.2(PNPLA6):c.1430C>T (p.Ser477Leu)
|
rs140929996
|
0.00004
|
NM_001166114.2(PNPLA6):c.29C>G (p.Thr10Arg)
|
rs777466386
|
0.00004
|
NM_001170535.3(ATAD3A):c.1751C>T (p.Ser584Phe)
|
rs770924627
|
0.00004
|
NM_001170535.3(ATAD3A):c.932C>G (p.Pro311Arg)
|
rs767934619
|
0.00004
|
NM_001170629.2(CHD8):c.4343G>A (p.Arg1448Gln)
|
rs915195873
|
0.00004
|
NM_001197104.2(KMT2A):c.6632G>A (p.Arg2211Gln)
|
rs140529566
|
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_001220.5(CAMK2B):c.1825G>A (p.Val609Ile)
|
rs754627779
|
0.00004
|
NM_001242896.3(DEPDC5):c.338A>T (p.Asp113Val)
|
rs529069517
|
0.00004
|
NM_001244008.2(KIF1A):c.2812C>T (p.Arg938Trp)
|
rs375371570
|
0.00004
|
NM_001267550.2(TTN):c.76661C>G (p.Ala25554Gly)
|
rs879087699
|
0.00004
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00004
|
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys)
|
rs766169253
|
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_001349338.3(FOXP1):c.734C>T (p.Thr245Ile)
|
rs766906735
|
0.00004
|
NM_001353345.2(SETD1B):c.5009G>A (p.Arg1670Gln)
|
rs867617534
|
0.00004
|
NM_001365536.1(SCN9A):c.856T>A (p.Leu286Ile)
|
rs754977237
|
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_001369369.1(FOXN1):c.1706C>A (p.Ser569Tyr)
|
rs149225004
|
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_001377275.1(PER3):c.3550-1G>A
|
rs772840416
|
0.00004
|
NM_001378414.1(HDAC4):c.3211G>A (p.Val1071Met)
|
rs766000387
|
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_001792.5(CDH2):c.14C>T (p.Ala5Val)
|
rs1284853215
|
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_001927.4(DES):c.937G>A (p.Ala313Thr)
|
rs766252091
|
0.00004
|
NM_001953.5(TYMP):c.1160-1G>A
|
rs797044455
|
0.00004
|
NM_002335.4(LRP5):c.2515G>A (p.Val839Ile)
|
rs974320602
|
0.00004
|
NM_002860.4(ALDH18A1):c.1351G>A (p.Val451Met)
|
rs111344269
|
0.00004
|
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr)
|
rs767232021
|
0.00004
|
NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu)
|
rs1054025123
|
0.00004
|
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser)
|
rs1324674144
|
0.00004
|
NM_003922.4(HERC1):c.9869A>G (p.Gln3290Arg)
|
rs200023211
|
0.00004
|
NM_004172.5(SLC1A3):c.329C>T (p.Ala110Val)
|
rs745820508
|
0.00004
|
NM_004341.5(CAD):c.2684G>T (p.Gly895Val)
|
rs759180447
|
0.00004
|
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)
|
rs749249146
|
0.00004
|
NM_004553.6(NDUFS6):c.2T>G (p.Met1Arg)
|
rs776323741
|
0.00004
|
NM_004973.4(JARID2):c.3581A>G (p.Asn1194Ser)
|
rs758694722
|
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_005045.4(RELN):c.8051G>A (p.Arg2684His)
|
rs201157987
|
0.00004
|
NM_005076.5(CNTN2):c.2196+5G>A
|
rs747164379
|
0.00004
|
NM_005334.3(HCFC1):c.3730C>T (p.Arg1244Cys)
|
rs782155408
|
0.00004
|
NM_005529.7(HSPG2):c.5174G>A (p.Arg1725Gln)
|
rs377462320
|
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_005909.5(MAP1B):c.5011A>G (p.Thr1671Ala)
|
rs780751457
|
0.00004
|
NM_006005.3(WFS1):c.1993A>C (p.Thr665Pro)
|
rs369656458
|
0.00004
|
NM_006180.6(NTRK2):c.25G>A (p.Gly9Arg)
|
rs1373336521
|
0.00004
|
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg)
|
rs759298418
|
0.00004
|
NM_006662.3(SRCAP):c.1073A>G (p.Asp358Gly)
|
rs778737366
|
0.00004
|
NM_006662.3(SRCAP):c.5612G>A (p.Arg1871Gln)
|
rs375163006
|
0.00004
|
NM_006767.4(LZTR1):c.1978G>A (p.Glu660Lys)
|
rs151000791
|
0.00004
|
NM_006914.4(RORB):c.481G>A (p.Gly161Ser)
|
rs763192623
|
0.00004
|
NM_006914.4(RORB):c.94-1144G>T
|
rs903619100
|
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.6044G>A (p.Ser2015Asn)
|
rs1366338930
|
0.00004
|
NM_014159.7(SETD2):c.7355C>T (p.Ser2452Leu)
|
rs775780402
|
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.1064C>T (p.Ser355Leu)
|
rs1021203285
|
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_014991.6(WDFY3):c.2347C>T (p.Arg783Cys)
|
rs775542349
|
0.00004
|
NM_015047.3(EMC1):c.1632+2T>C
|
rs760060777
|
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_016604.4(KDM3B):c.3415G>A (p.Val1139Ile)
|
rs748316978
|
0.00004
|
NM_018012.4(KIF26B):c.2110C>T (p.Arg704Cys)
|
rs754222042
|
0.00004
|
NM_018026.4(PACS1):c.2281C>A (p.Pro761Thr)
|
rs578033982
|
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_020708.5(SLC12A5):c.2455G>A (p.Glu819Lys)
|
rs751841577
|
0.00004
|
NM_020765.3(UBR4):c.1922G>A (p.Arg641His)
|
rs370057018
|
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_020988.3(GNAO1):c.723+7070C>T
|
rs756529307
|
0.00004
|
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr)
|
rs931243903
|
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_021975.4(RELA):c.596T>C (p.Val199Ala)
|
rs145138143
|
0.00004
|
NM_022114.4(PRDM16):c.3097G>A (p.Glu1033Lys)
|
rs554867627
|
0.00004
|
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile)
|
rs143402711
|
0.00004
|
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)
|
rs547583131
|
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_022765.4(MICAL1):c.1516G>A (p.Gly506Arg)
|
rs373511531
|
0.00004
|
NM_024407.5(NDUFS7):c.439G>A (p.Val147Met)
|
rs371666279
|
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_024757.5(EHMT1):c.3532G>A (p.Asp1178Asn)
|
rs371824384
|
0.00004
|
NM_025114.4(CEP290):c.5186G>A (p.Arg1729Gln)
|
rs535531689
|
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_033026.6(PCLO):c.5222G>C (p.Ser1741Thr)
|
rs544116999
|
0.00004
|
NM_033028.5(BBS4):c.1193T>C (p.Met398Thr)
|
rs760437306
|
0.00004
|
NM_052891.3(PGLYRP3):c.258-173T>C
|
rs529292918
|
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_173354.5(SIK1):c.1571C>T (p.Pro524Leu)
|
rs765573579
|
0.00004
|
NM_177972.3(TUB):c.1498G>A (p.Asp500Asn)
|
rs368907491
|
0.00004
|
NM_194454.3(KRIT1):c.1436A>C (p.Lys479Thr)
|
rs576080477
|
0.00004
|
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
|
rs145903120
|
0.00004
|
NM_000141.5(FGFR2):c.1382C>T (p.Ala461Val)
|
rs376451171
|
0.00003
|
NM_000188.3(HK1):c.1010G>A (p.Ser337Asn)
|
rs1351313925
|
0.00003
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
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_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)
|
rs59852838
|
0.00003
|
NM_000363.5(TNNI3):c.108+4G>T
|
rs878853954
|
0.00003
|
NM_000381.4(MID1):c.340G>A (p.Ala114Thr)
|
rs749995175
|
0.00003
|
NM_000384.3(APOB):c.218C>A (p.Ala73Asp)
|
rs377171241
|
0.00003
|
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu)
|
rs776008744
|
0.00003
|
NM_000489.6(ATRX):c.1480A>G (p.Lys494Glu)
|
rs1394070657
|
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_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.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_001083962.2(TCF4):c.466C>A (p.Pro156Thr)
|
rs200889338
|
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_001122752.2(SERPINI1):c.439G>A (p.Val147Met)
|
rs772999261
|
0.00003
|
NM_001142569.3(INAVA):c.178G>T (p.Ala60Ser)
|
rs773330158
|
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_001165963.4(SCN1A):c.2201G>A (p.Cys734Tyr)
|
rs1247949520
|
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_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.40723+1G>T
|
rs371770198
|
0.00003
|
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg)
|
rs745626132
|
0.00003
|
NM_001267550.2(TTN):c.78323A>G (p.Gln26108Arg)
|
rs370963021
|
0.00003
|
NM_001278512.2(AP3B2):c.2930G>A (p.Arg977Gln)
|
rs572047686
|
0.00003
|
NM_001286646.2(SLC45A4):c.1108G>A (p.Asp370Asn)
|
rs569786400
|
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_001353345.2(SETD1B):c.3331A>G (p.Ser1111Gly)
|
rs1157590683
|
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_001369268.1(ACAN):c.2539C>G (p.Pro847Ala)
|
rs372267862
|
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_001378328.1(CELSR1):c.929T>C (p.Val310Ala)
|
rs1017161806
|
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_001386298.1(CIC):c.7387G>A (p.Ala2463Thr)
|
rs762480443
|
0.00003
|
NM_001394062.1(MACF1):c.19416G>C (p.Gln6472His)
|
rs752667577
|
0.00003
|
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg)
|
rs1263635747
|
0.00003
|
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg)
|
rs751019991
|
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_001846.4(COL4A2):c.4981G>A (p.Gly1661Ser)
|
rs373806617
|
0.00003
|
NM_002074.5(GNB1):c.520G>A (p.Gly174Ser)
|
rs779612138
|
0.00003
|
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr)
|
rs754458532
|
0.00003
|
NM_003036.4(SKI):c.1817C>T (p.Thr606Met)
|
rs753862105
|
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_003470.3(USP7):c.530C>A (p.Thr177Asn)
|
rs769192378
|
0.00003
|
NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)
|
rs200866298
|
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_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.1978A>G (p.Thr660Ala)
|
rs556737893
|
0.00003
|
NM_004525.3(LRP2):c.667G>A (p.Gly223Ser)
|
rs528193479
|
0.00003
|
NM_004973.4(JARID2):c.2528C>T (p.Pro843Leu)
|
rs367950791
|
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_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_006015.6(ARID1A):c.4564G>A (p.Ala1522Thr)
|
rs199776442
|
0.00003
|
NM_006545.5(NPRL2):c.694G>A (p.Val232Ile)
|
rs767088341
|
0.00003
|
NM_006663.4(PPP1R13L):c.2448+726C>T
|
rs918977048
|
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_014324.6(AMACR):c.*760C>T
|
rs991052989
|
0.00003
|
NM_014391.3(ANKRD1):c.131A>G (p.Asp44Gly)
|
rs749040843
|
0.00003
|
NM_014491.4(FOXP2):c.258+15661C>T
|
rs1339286790
|
0.00003
|
NM_014727.3(KMT2B):c.3206C>G (p.Ser1069Cys)
|
rs748861506
|
0.00003
|
NM_014795.4(ZEB2):c.-9C>T
|
rs730881183
|
0.00003
|
NM_014920.5(CILK1):c.914A>C (p.Lys305Thr)
|
rs765078446
|
0.00003
|
NM_014991.6(WDFY3):c.5404C>T (p.Arg1802Trp)
|
rs138292353
|
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_015559.3(SETBP1):c.584C>T (p.Thr195Met)
|
rs755852977
|
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_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_020158.4(EXOSC5):c.24C>G (p.Asp8Glu)
|
rs547685483
|
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_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_020987.5(ANK3):c.1657G>A (p.Asp553Asn)
|
rs753197813
|
0.00003
|
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly)
|
rs989268235
|
0.00003
|
NM_021098.3(CACNA1H):c.1223T>C (p.Phe408Ser)
|
rs760258010
|
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_022114.4(PRDM16):c.872C>T (p.Pro291Leu)
|
rs397514744
|
0.00003
|
NM_025114.4(CEP290):c.1192G>T (p.Ala398Ser)
|
rs764079993
|
0.00003
|
NM_025233.7(COASY):c.-5G>A
|
rs1224479994
|
0.00003
|
NM_030632.3(ASXL3):c.4054A>G (p.Asn1352Asp)
|
rs765815936
|
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_032634.4(PIGO):c.3118G>A (p.Val1040Ile)
|
rs149439295
|
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.1888G>A (p.Ala630Thr)
|
rs768721417
|
0.00003
|
NM_152564.5(VPS13B):c.4676G>T (p.Gly1559Val)
|
rs578203757
|
0.00003
|
NM_152743.4(BRAT1):c.2228C>A (p.Pro743His)
|
rs148661872
|
0.00003
|
NM_152743.4(BRAT1):c.346G>A (p.Val116Ile)
|
rs750543404
|
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_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_170784.3(MKKS):c.464G>A (p.Arg155His)
|
rs138111422
|
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_000088.4(COL1A1):c.336A>T (p.Gly112=)
|
rs749946056
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
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_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_000285.4(PEPD):c.1324C>T (p.Arg442Cys)
|
rs537755422
|
0.00002
|
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg)
|
rs780405533
|
0.00002
|
NM_000337.6(SGCD):c.32G>A (p.Arg11Gln)
|
rs752548592
|
0.00002
|
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
NM_000352.6(ABCC8):c.4412-4T>G
|
rs1476016104
|
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.2821A>T (p.Thr941Ser)
|
rs748256431
|
0.00002
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
NM_000489.6(ATRX):c.3285G>T (p.Lys1095Asn)
|
rs1308342676
|
0.00002
|
NM_000548.5(TSC2):c.4106G>A (p.Arg1369Gln)
|
rs587778738
|
0.00002
|
NM_000719.7(CACNA1C):c.4141-605G>A
|
rs1054703481
|
0.00002
|
NM_000742.4(CHRNA2):c.1052A>G (p.Asn351Ser)
|
rs770305730
|
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_001013839.4(EXOC7):c.1664G>A (p.Arg555His)
|
rs560547486
|
0.00002
|
NM_001014987.2(LAT):c.233T>C (p.Leu78Pro)
|
rs1342632805
|
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_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_001080517.3(SETD5):c.2855C>T (p.Pro952Leu)
|
rs1475256332
|
0.00002
|
NM_001110556.2(FLNA):c.5069C>T (p.Thr1690Met)
|
rs782352193
|
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_001127644.2(GABRA1):c.1130C>T (p.Pro377Leu)
|
rs751571034
|
0.00002
|
NM_001128166.3(PAK3):c.-30G>C
|
rs935906281
|
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.4252C>T (p.Arg1418Cys)
|
rs749093363
|
0.00002
|
NM_001148.6(ANK2):c.6895G>C (p.Asp2299His)
|
rs537233629
|
0.00002
|
NM_001165963.4(SCN1A):c.3889G>A (p.Val1297Ile)
|
rs1260685558
|
0.00002
|
NM_001165963.4(SCN1A):c.5978T>C (p.Ile1993Thr)
|
rs766656231
|
0.00002
|
NM_001170629.2(CHD8):c.5909C>G (p.Ala1970Gly)
|
rs770184277
|
0.00002
|
NM_001197104.2(KMT2A):c.2405C>G (p.Ser802Cys)
|
rs782623689
|
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_001287491.2(TET3):c.1874G>A (p.Arg625Gln)
|
rs986661716
|
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.2248G>A (p.Ala750Thr)
|
rs377466652
|
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.136G>A (p.Ala46Thr)
|
rs779344629
|
0.00002
|
NM_001365999.1(SZT2):c.9941A>G (p.Lys3314Arg)
|
rs758380489
|
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_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_001378183.1(PIEZO2):c.71C>T (p.Ala24Val)
|
rs759000106
|
0.00002
|
NM_001378452.1(ITPR1):c.5746A>G (p.Ile1916Val)
|
rs1479960762
|
0.00002
|
NM_001378452.1(ITPR1):c.6817G>A (p.Val2273Met)
|
rs767779223
|
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_001382280.1(LRRC53):c.2543_2546dup (p.Glu849delinsAspTer)
|
rs1416246083
|
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_001386140.1(MTTP):c.1391C>A (p.Ala464Glu)
|
rs756155398
|
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_001394062.1(MACF1):c.2870A>G (p.Tyr957Cys)
|
rs757560141
|
0.00002
|
NM_001414.4(EIF2B1):c.551G>A (p.Gly184Asp)
|
rs771299612
|
0.00002
|
NM_001457.4(FLNB):c.4288G>A (p.Gly1430Arg)
|
rs779999799
|
0.00002
|
NM_001743.6(CALM2):c.420A>G (p.Glu140=)
|
rs201444040
|
0.00002
|
NM_001807.6(CEL):c.895+2dup
|
rs1027973097
|
0.00002
|
NM_001846.4(COL4A2):c.914G>T (p.Gly305Val)
|
rs377088851
|
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_002016.2(FLG):c.10054A>G (p.Thr3352Ala)
|
rs759537361
|
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_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_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.935C>A (p.Ala312Asp)
|
rs750484458
|
0.00002
|
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)
|
rs370689343
|
0.00002
|
NM_004830.4(MED23):c.695A>G (p.Asn232Ser)
|
rs376144764
|
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.1147A>G (p.Arg383Gly)
|
rs188821440
|
0.00002
|
NM_005068.3(SIM1):c.1643G>A (p.Arg548Gln)
|
rs149460504
|
0.00002
|
NM_005121.3(MED13):c.749C>T (p.Ser250Phe)
|
rs761981290
|
0.00002
|
NM_005137.3(DGCR2):c.221G>A (p.Arg74His)
|
rs1430960797
|
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_005458.8(GABBR2):c.143G>A (p.Arg48Gln)
|
rs1431110237
|
0.00002
|
NM_005477.3(HCN4):c.1385G>A (p.Gly462Glu)
|
rs146714274
|
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_005957.5(MTHFR):c.1760C>G (p.Ala587Gly)
|
rs761226286
|
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_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_007118.4(TRIO):c.410C>T (p.Ser137Phe)
|
rs961247277
|
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_014000.3(VCL):c.1814C>G (p.Pro605Arg)
|
rs960761223
|
0.00002
|
NM_014159.7(SETD2):c.827A>G (p.Asp276Gly)
|
rs1456190392
|
0.00002
|
NM_014467.3(SRPX2):c.554G>T (p.Arg185Leu)
|
rs768629864
|
0.00002
|
NM_014638.4(PLCH2):c.15G>A (p.Trp5Ter)
|
rs946933819
|
0.00002
|
NM_014727.3(KMT2B):c.3190C>A (p.Pro1064Thr)
|
rs1350666277
|
0.00002
|
NM_014920.5(CILK1):c.1434G>A (p.Thr478=)
|
rs563467548
|
0.00002
|
NM_014946.4(SPAST):c.1813A>G (p.Ile605Val)
|
rs372900676
|
0.00002
|
NM_014975.3(MAST1):c.3506C>T (p.Ser1169Leu)
|
rs564599262
|
0.00002
|
NM_015001.3(SPEN):c.7453G>A (p.Ala2485Thr)
|
rs368603571
|
0.00002
|
NM_015021.3(ZNF292):c.1190A>G (p.Glu397Gly)
|
rs760272408
|
0.00002
|
NM_015021.3(ZNF292):c.1259A>G (p.Glu420Gly)
|
rs1195660356
|
0.00002
|
NM_015021.3(ZNF292):c.4046G>A (p.Arg1349Gln)
|
rs572597069
|
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_015557.3(CHD5):c.3779C>T (p.Ala1260Val)
|
rs759818397
|
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_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
|
rs778668093
|
0.00002
|
NM_017514.5(PLXNA3):c.3628A>T (p.Ile1210Phe)
|
rs782698800
|
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.1613G>A (p.Arg538His)
|
rs557678962
|
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_019842.4(KCNQ5):c.2366A>T (p.Glu789Val)
|
rs771383058
|
0.00002
|
NM_020297.4(ABCC9):c.200C>T (p.Pro67Leu)
|
rs766600615
|
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_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.3014C>T (p.Thr1005Met)
|
rs890699630
|
0.00002
|
NM_020987.5(ANK3):c.9252G>T (p.Glu3084Asp)
|
rs759850374
|
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_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_024704.5(KIF16B):c.2586G>T (p.Glu862Asp)
|
rs760399657
|
0.00002
|
NM_025219.3(DNAJC5):c.-11-2A>G
|
rs1370715503
|
0.00002
|
NM_030578.4(B9D2):c.484G>T (p.Gly162Cys)
|
rs760322583
|
0.00002
|
NM_030665.4(RAI1):c.239G>A (p.Arg80Gln)
|
rs372896387
|
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_030665.4(RAI1):c.5225G>T (p.Gly1742Val)
|
rs558768145
|
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_052867.4(NALCN):c.3845C>T (p.Ser1282Leu)
|
rs763353781
|
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_152703.5(SAMD9L):c.2387T>G (p.Ile796Ser)
|
rs774643105
|
0.00002
|
NM_153485.3(NUP155):c.1348A>G (p.Met450Val)
|
rs374935918
|
0.00002
|
NM_170606.3(KMT2C):c.10564A>G (p.Ile3522Val)
|
rs571653303
|
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.1919A>G (p.Asn640Ser)
|
rs752598065
|
0.00002
|
NM_174936.4(PCSK9):c.787G>A (p.Gly263Ser)
|
rs200146448
|
0.00002
|
NM_177972.3(TUB):c.1159G>A (p.Val387Met)
|
rs1214536528
|
0.00002
|
NM_177972.3(TUB):c.1210C>T (p.Arg404Cys)
|
rs139170512
|
0.00002
|
NM_182746.3(MCM4):c.1784C>T (p.Thr595Ile)
|
rs375753142
|
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
|
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_000081.4(LYST):c.1637G>A (p.Arg546Gln)
|
rs751609899
|
0.00001
|
NM_000081.4(LYST):c.2330A>G (p.Tyr777Cys)
|
rs367688184
|
0.00001
|
NM_000156.6(GAMT):c.437C>G (p.Thr146Arg)
|
rs149821870
|
0.00001
|
NM_000168.6(GLI3):c.3586G>C (p.Gly1196Arg)
|
rs376413286
|
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.506C>T (p.Thr169Met)
|
rs199472693
|
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_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_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_000278.5(PAX2):c.757G>A (p.Val253Ile)
|
rs770703982
|
0.00001
|
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys)
|
rs1269552788
|
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_000368.5(TSC1):c.1282G>C (p.Ala428Pro)
|
rs1845728007
|
0.00001
|
NM_000368.5(TSC1):c.1283C>T (p.Ala428Val)
|
rs1554816420
|
0.00001
|
NM_000381.4(MID1):c.1279G>A (p.Val427Ile)
|
rs755985917
|
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.3052G>A (p.Ala1018Thr)
|
rs149357946
|
0.00001
|
NM_000384.3(APOB):c.4366G>A (p.Asp1456Asn)
|
rs147759262
|
0.00001
|
NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp)
|
rs1855560526
|
0.00001
|
NM_000391.4(TPP1):c.959T>G (p.Val320Gly)
|
rs1314521780
|
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_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_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_000540.3(RYR1):c.1715A>C (p.Glu572Ala)
|
rs779551357
|
0.00001
|
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile)
|
rs751368921
|
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_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.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.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_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_001003694.2(BRPF1):c.2074C>T (p.Arg692Cys)
|
rs780354293
|
0.00001
|
NM_001004067.4(NOMO3):c.1873C>T (p.Arg625Ter)
|
rs1208366806
|
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.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.1877G>A (p.Arg626His)
|
rs201084618
|
0.00001
|
NM_001008537.3(NEXMIF):c.2363T>C (p.Leu788Pro)
|
rs894871556
|
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.10796A>G (p.Asp3599Gly)
|
rs368923826
|
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.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.7323T>G (p.Ala2441=)
|
rs765750009
|
0.00001
|
NM_001042681.2(RERE):c.116G>A (p.Arg39Gln)
|
rs199717815
|
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.820C>T (p.Arg274Trp)
|
rs558187116
|
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_001080517.3(SETD5):c.1592G>A (p.Arg531Gln)
|
rs1257894154
|
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_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_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_001135651.3(EIF2AK2):c.268A>G (p.Thr90Ala)
|
rs199931311
|
0.00001
|
NM_001144967.3(NEDD4L):c.1114G>A (p.Glu372Lys)
|
rs765869459
|
0.00001
|
NM_001144967.3(NEDD4L):c.1576-4G>T
|
rs747092381
|
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.9665C>A (p.Thr3222Asn)
|
rs2095939172
|
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.4151C>G (p.Pro1384Arg)
|
rs762809955
|
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.2929G>A (p.Gly977Ser)
|
rs782439084
|
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.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_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.5216C>T (p.Thr1739Ile)
|
rs371267255
|
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_001256071.3(RNF213):c.14729T>C (p.Val4910Ala)
|
rs1253832723
|
0.00001
|
NM_001256627.2(BRSK2):c.182T>C (p.Met61Thr)
|
rs1341201081
|
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.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.60524C>T (p.Pro20175Leu)
|
rs771358314
|
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.95665G>A (p.Ala31889Thr)
|
rs1025105445
|
0.00001
|
NM_001267550.2(TTN):c.98917A>G (p.Ile32973Val)
|
rs773080115
|
0.00001
|
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro)
|
rs397516447
|
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_001287.6(CLCN7):c.2018C>T (p.Ala673Val)
|
rs1430982446
|
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_001303052.2(MYT1L):c.1184T>C (p.Val395Ala)
|
rs1335226719
|
0.00001
|
NM_001303256.3(MORC2):c.2188T>A (p.Ser730Thr)
|
rs759091855
|
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.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.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.560C>T (p.Pro187Leu)
|
rs771227297
|
0.00001
|
NM_001365536.1(SCN9A):c.5681C>G (p.Thr1894Ser)
|
rs1264234784
|
0.00001
|
NM_001365999.1(SZT2):c.4034C>A (p.Ala1345Glu)
|
rs1026710468
|
0.00001
|
NM_001365999.1(SZT2):c.4972T>A (p.Leu1658Ile)
|
rs745970630
|
0.00001
|
NM_001365999.1(SZT2):c.9892C>T (p.Arg3298Cys)
|
rs764177776
|
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_001368397.1(FRMPD4):c.2917G>C (p.Ala973Pro)
|
rs200249861
|
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.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.7262C>T (p.Thr2421Met)
|
rs770803375
|
0.00001
|
NM_001376.5(DYNC1H1):c.8275A>G (p.Ile2759Val)
|
rs1131691452
|
0.00001
|
NM_001377229.1(DISP1):c.992G>C (p.Arg331Thr)
|
rs1679522239
|
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_001378615.1(CC2D2A):c.1880G>A (p.Arg627Gln)
|
rs752576142
|
0.00001
|
NM_001378615.1(CC2D2A):c.2206A>T (p.Ser736Cys)
|
rs1308459948
|
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_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_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_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.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_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_001606.5(ABCA2):c.6034T>C (p.Tyr2012His)
|
rs777122990
|
0.00001
|
NM_001792.5(CDH2):c.1100C>T (p.Thr367Met)
|
rs200933425
|
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.4892C>T (p.Ala1631Val)
|
rs201495557
|
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_002055.5(GFAP):c.882C>A (p.Cys294Ter)
|
rs200034725
|
0.00001
|
NM_002184.4(IL6ST):c.2447A>G (p.Lys816Arg)
|
rs765498089
|
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_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_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_002609.4(PDGFRB):c.1090G>A (p.Glu364Lys)
|
rs754790326
|
0.00001
|
NM_002653.5(PITX1):c.158C>T (p.Thr53Met)
|
rs777634577
|
0.00001
|
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr)
|
rs1415602777
|
0.00001
|
NM_002880.4(RAF1):c.884G>C (p.Ser295Thr)
|
rs191560404
|
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+6C>G
|
rs200675113
|
0.00001
|
NM_003108.4(SOX11):c.727C>G (p.Pro243Ala)
|
rs771639613
|
0.00001
|
NM_003200.5(TCF3):c.107G>A (p.Arg36Gln)
|
rs1011180356
|
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_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_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_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_004006.3(DMD):c.2312C>T (p.Ala771Val)
|
rs1245604423
|
0.00001
|
NM_004100.5(EYA4):c.44C>T (p.Thr15Met)
|
rs769070323
|
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_004281.4(BAG3):c.13A>G (p.Thr5Ala)
|
rs777752849
|
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_004397.6(DDX6):c.566A>G (p.Lys189Arg)
|
rs369123795
|
0.00001
|
NM_004408.4(DNM1):c.1558-3C>T
|
rs546517702
|
0.00001
|
NM_004519.4(KCNQ3):c.293A>G (p.Lys98Arg)
|
rs143194379
|
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_004539.4(NARS1):c.644G>T (p.Gly215Val)
|
rs2051570122
|
0.00001
|
NM_004544.4(NDUFA10):c.590A>G (p.Asp197Gly)
|
rs748683797
|
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_004840.3(ARHGEF6):c.1943A>G (p.Lys648Arg)
|
rs375084147
|
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_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_005051.3(QARS1):c.1170G>A (p.Met390Ile)
|
rs1559967769
|
0.00001
|
NM_005051.3(QARS1):c.781G>C (p.Gly261Arg)
|
rs779251239
|
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.4163T>G (p.Phe1388Cys)
|
rs2080074728
|
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_005585.5(SMAD6):c.731T>C (p.Leu244Pro)
|
rs1457962668
|
0.00001
|
NM_005611.4(RBL2):c.1948C>T (p.Arg650Cys)
|
rs553666067
|
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_006005.3(WFS1):c.176C>T (p.Ala59Val)
|
rs71524365
|
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.287A>T (p.Asp96Val)
|
rs201041758
|
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_006268.5(DPF2):c.900C>T (p.Arg300=)
|
rs775695232
|
0.00001
|
NM_006280.3(SSR4):c.194C>T (p.Ala65Val)
|
rs781822476
|
0.00001
|
NM_006311.4(NCOR1):c.3761T>C (p.Ile1254Thr)
|
rs369440540
|
0.00001
|
NM_006494.4(ERF):c.373+8C>T
|
rs368794183
|
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_006662.3(SRCAP):c.5282G>C (p.Gly1761Ala)
|
rs767130314
|
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.5150A>T (p.Lys1717Met)
|
rs1775466922
|
0.00001
|
NM_006734.4(HIVEP2):c.6245T>C (p.Leu2082Pro)
|
rs753359071
|
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_006946.4(SPTBN2):c.2683G>A (p.Glu895Lys)
|
rs145702618
|
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.6725C>T (p.Thr2242Met)
|
rs55916212
|
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_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_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.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_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_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.3577G>A (p.Ala1193Thr)
|
rs751491210
|
0.00001
|
NM_014159.7(SETD2):c.1256A>G (p.Tyr419Cys)
|
rs546591954
|
0.00001
|
NM_014159.7(SETD2):c.1849C>T (p.Pro617Ser)
|
rs372521251
|
0.00001
|
NM_014159.7(SETD2):c.6029C>T (p.Thr2010Ile)
|
rs2041416610
|
0.00001
|
NM_014314.4(RIGI):c.1232C>T (p.Ser411Leu)
|
rs267602206
|
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_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.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.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_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_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_015474.4(SAMHD1):c.1798G>A (p.Asp600Asn)
|
rs761596589
|
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_015559.3(SETBP1):c.2842C>T (p.Arg948Cys)
|
rs751366974
|
0.00001
|
NM_015570.4(AUTS2):c.142C>T (p.Leu48Phe)
|
rs1475544687
|
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_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_017617.5(NOTCH1):c.5674G>A (p.Gly1892Arg)
|
rs761427888
|
0.00001
|
NM_017654.4(SAMD9):c.893C>T (p.Thr298Ile)
|
rs200135790
|
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.791C>T (p.Thr264Met)
|
rs561482424
|
0.00001
|
NM_017780.4(CHD7):c.1696C>G (p.Pro566Ala)
|
rs764518030
|
0.00001
|
NM_017831.4(RNF125):c.40C>T (p.Pro14Ser)
|
rs757185603
|
0.00001
|
NM_017934.7(PHIP):c.842G>A (p.Gly281Asp)
|
rs372699478
|
0.00001
|
NM_018026.4(PACS1):c.1992C>T (p.Leu664=)
|
rs780838334
|
0.00001
|
NM_018026.4(PACS1):c.65G>A (p.Gly22Glu)
|
rs1857288713
|
0.00001
|
NM_018071.5(ARHGEF40):c.2767C>T (p.Arg923Trp)
|
rs903600980
|
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.1570C>T (p.Pro524Ser)
|
rs143322824
|
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.6769C>T (p.Arg2257Trp)
|
rs1444290546
|
0.00001
|
NM_019066.5(MAGEL2):c.220G>A (p.Ala74Thr)
|
rs1216919340
|
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_020232.5(PSMG2):c.582-1G>A
|
rs763788988
|
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_020433.5(JPH2):c.655G>T (p.Gly219Cys)
|
rs1251565277
|
0.00001
|
NM_020699.4(GATAD2B):c.1661C>G (p.Ala554Gly)
|
rs749141299
|
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.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_020778.5(ALPK3):c.1765G>A (p.Asp589Asn)
|
rs146892833
|
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_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.1939G>A (p.Ala647Thr)
|
rs761904426
|
0.00001
|
NM_020987.5(ANK3):c.4705T>G (p.Ser1569Ala)
|
rs375050420
|
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_021098.3(CACNA1H):c.5968A>G (p.Arg1990Gly)
|
rs779602893
|
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_022168.4(IFIH1):c.2321T>A (p.Val774Asp)
|
rs1246892209
|
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_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_022552.5(DNMT3A):c.1787G>A (p.Arg596Gln)
|
rs899717364
|
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_024496.4(IRF2BPL):c.136C>G (p.Arg46Gly)
|
rs138309548
|
0.00001
|
NM_024589.3(ROGDI):c.755C>G (p.Pro252Arg)
|
rs1276539581
|
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_024740.2(ALG9):c.1502T>A (p.Phe501Tyr)
|
rs541537158
|
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_030805.4(LMAN2L):c.187+4A>C
|
rs2078596924
|
0.00001
|
NM_030805.4(LMAN2L):c.785-273A>G
|
rs1469575298
|
0.00001
|
NM_031407.7(HUWE1):c.3641C>T (p.Thr1214Met)
|
rs782621365
|
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_032108.4(SEMA6B):c.2111C>T (p.Ser704Leu)
|
rs918065842
|
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_032808.7(LINGO1):c.1825G>A (p.Ala609Thr)
|
rs367728067
|
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_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_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_138713.4(NFAT5):c.1499T>C (p.Val500Ala)
|
rs747215016
|
0.00001
|
NM_138775.3(ALKBH8):c.1105C>T (p.Arg369Trp)
|
rs745922825
|
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_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.2180A>G (p.His727Arg)
|
rs1436936380
|
0.00001
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
NM_152564.5(VPS13B):c.8238G>C (p.Leu2746Phe)
|
rs1016035749
|
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_152722.5(HEPACAM):c.803+1G>A
|
rs375712202
|
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.508A>G (p.Lys170Glu)
|
rs200182945
|
0.00001
|
NM_170606.3(KMT2C):c.5512C>T (p.Pro1838Ser)
|
rs776192339
|
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.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_176824.3(BBS7):c.76G>A (p.Ala26Thr)
|
rs766450289
|
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_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_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_198253.3(TERT):c.2655-47_2659dup
|
rs1561193114
|
0.00001
|
NM_198282.4(STING1):c.344C>T (p.Pro115Leu)
|
rs769494344
|
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.707C>T (p.Thr236Met)
|
rs764823064
|
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
|
GRCh37/hg19 17p13.3(chr17:1-450099)
|
|
|
GRCh38/hg38 10p15.1(chr10:5159926-5165558)
|
|
|
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 16p11.2(chr16:31113127-31122901)
|
|
|
GRCh38/hg38 1p36.12(chr1:21999190-22063093)
|
|
|
GRCh38/hg38 20p12.3(chr20:6773385-6822115)
|
|
|
GRCh38/hg38 2q23.1(chr2:148120444-148180182)
|
|
|
GRCh38/hg38 Xp22.2(chrX:15913412-16533949)
|
|
|
GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)
|
|
|
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_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_000006.12:g.162158041_162743641dup
|
|
|
NC_000007.14:g.11357596_11451599dup
|
|
|
NC_000007.14:g.152175569_152524553dup
|
|
|
NC_000007.14:g.5986941_6669974dup
|
|
|
NC_000009.12:g.73165555_73173279dup
|
|
|
NC_000010.11:g.133346605_133601248dup
|
|
|
NC_000011.10:g.32963226_33107103dup
|
|
|
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_000015.10:g.22723843_23122692dup
|
|
|
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.70166313_70176696dup
|
|
|
NC_000017.11:g.80392616_80422726del
|
|
|
NC_000020.11:g.49212886_49410642dup
|
|
|
NC_000022.11:g.23774226_23859697dup
|
|
|
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-ND3):m.10161A>T
|
rs1556423771
|
|
NM_000026.4(ADSL):c.1102-6C>G
|
rs758666194
|
|
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.148G>A (p.Val50Met)
|
|
|
NM_000040.3(APOC3):c.161A>G (p.Gln54Arg)
|
|
|
NM_000041.4(APOE):c.31A>G (p.Thr11Ala)
|
|
|
NM_000052.7(ATP7A):c.4124-538A>G
|
rs2149113261
|
|
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)
|
rs1176770868
|
|
NM_000073.3(CD3G):c.187G>A (p.Gly63Ser)
|
rs755334490
|
|
NM_000081.4(LYST):c.6673C>T (p.Arg2225Cys)
|
|
|
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln)
|
rs887190843
|
|
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.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)
|
|
|
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)
|
rs104894005
|
|
NM_000168.6(GLI3):c.776C>G (p.Ala259Gly)
|
rs565817241
|
|
NM_000170.3(GLDC):c.861+5G>A
|
rs192663616
|
|
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_000218.3(KCNQ1):c.1090T>C (p.Phe364Leu)
|
|
|
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.1924T>C (p.Cys642Arg)
|
rs1410404016
|
|
NM_000218.3(KCNQ1):c.285C>G (p.Ser95Arg)
|
|
|
NM_000219.6(KCNE1):c.-376-8A>T
|
|
|
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys)
|
rs199473645
|
|
NM_000229.2(LCAT):c.1073C>T (p.Thr358Met)
|
|
|
NM_000229.2(LCAT):c.832C>T (p.Pro278Ser)
|
|
|
NM_000235.4(LIPA):c.683T>C (p.Phe228Ser)
|
rs2228159
|
|
NM_000236.3(LIPC):c.1024G>A (p.Val342Ile)
|
|
|
NM_000236.3(LIPC):c.1031G>A (p.Arg344Gln)
|
|
|
NM_000236.3(LIPC):c.274-5C>T
|
|
|
NM_000236.3(LIPC):c.353G>A (p.Gly118Glu)
|
|
|
NM_000236.3(LIPC):c.377C>A (p.Ala126Asp)
|
|
|
NM_000236.3(LIPC):c.88+8C>A
|
|
|
NM_000237.3(LPL):c.1379C>T (p.Ala460Val)
|
|
|
NM_000237.3(LPL):c.1414A>C (p.Lys472Gln)
|
|
|
NM_000237.3(LPL):c.386A>C (p.Lys129Thr)
|
|
|
NM_000238.4(KCNH2):c.2592+3G>A
|
rs906562788
|
|
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys)
|
rs199473434
|
|
NM_000238.4(KCNH2):c.551GCGCGGGCG[3] (p.Gly189_Ala190insGlyAlaGly)
|
rs551056698
|
|
NM_000254.3(MTR):c.2249T>C (p.Phe750Ser)
|
rs1664588529
|
|
NM_000256.3(MYBPC3):c.3764C>G (p.Ala1255Gly)
|
rs727504722
|
|
NM_000257.4(MYH7):c.1792A>G (p.Lys598Glu)
|
rs1057518305
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
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_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_000278.5(PAX2):c.794G>A (p.Gly265Glu)
|
rs1847901674
|
|
NM_000310.4(PPT1):c.17G>C (p.Cys6Ser)
|
rs202241486
|
|
NM_000317.3(PTS):c.186G>A (p.Glu62=)
|
rs189051075
|
|
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_000337.6(SGCD):c.193-63405A>G
|
|
|
NM_000342.4(SLC4A1):c.286C>T (p.Arg96Cys)
|
rs538778224
|
|
NM_000352.6(ABCC8):c.1012-7C>G
|
|
|
NM_000352.6(ABCC8):c.1332+3A>G
|
|
|
NM_000352.6(ABCC8):c.1468-52G>A
|
|
|
NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met)
|
|
|
NM_000352.6(ABCC8):c.1672-473T>G
|
|
|
NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)
|
|
|
NM_000352.6(ABCC8):c.2105G>A (p.Arg702His)
|
|
|
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
|
|
|
NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)
|
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
|
|
|
NM_000352.6(ABCC8):c.421G>A (p.Val141Met)
|
|
|
NM_000376.3(VDR):c.1103G>T (p.Arg368Leu)
|
rs376903517
|
|
NM_000381.4(MID1):c.1679A>G (p.Lys560Arg)
|
rs1057520313
|
|
NM_000383.4(AIRE):c.1504-818G>A
|
rs181779633
|
|
NM_000384.3(APOB):c.10460C>T (p.Thr3487Ile)
|
|
|
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)
|
|
|
NM_000384.3(APOB):c.10955A>G (p.Asn3652Ser)
|
|
|
NM_000384.3(APOB):c.11273T>C (p.Val3758Ala)
|
|
|
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)
|
|
|
NM_000384.3(APOB):c.13153C>T (p.Arg4385Cys)
|
rs864309556
|
|
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
|
|
|
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
|
|
|
NM_000384.3(APOB):c.3514G>A (p.Glu1172Lys)
|
|
|
NM_000384.3(APOB):c.3692T>C (p.Ile1231Thr)
|
rs1663429897
|
|
NM_000384.3(APOB):c.4056_4064dup (p.Gly1354_Leu1356dup)
|
rs777844352
|
|
NM_000384.3(APOB):c.4097T>C (p.Leu1366Ser)
|
|
|
NM_000384.3(APOB):c.433C>G (p.Pro145Ala)
|
|
|
NM_000384.3(APOB):c.4822T>A (p.Ser1608Thr)
|
|
|
NM_000384.3(APOB):c.5066G>A (p.Arg1689His)
|
|
|
NM_000384.3(APOB):c.5188A>C (p.Lys1730Gln)
|
|
|
NM_000384.3(APOB):c.5898C>A (p.His1966Gln)
|
|
|
NM_000384.3(APOB):c.649C>T (p.Pro217Ser)
|
rs573308525
|
|
NM_000384.3(APOB):c.6752A>G (p.Asn2251Ser)
|
|
|
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)
|
|
|
NM_000384.3(APOB):c.9947C>G (p.Ser3316Cys)
|
|
|
NM_000391.4(TPP1):c.751T>C (p.Phe251Leu)
|
rs1855592796
|
|
NM_000397.4(CYBB):c.728T>C (p.Val243Ala)
|
|
|
NM_000417.3(IL2RA):c.76G>C (p.Asp26His)
|
rs55868253
|
|
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys)
|
rs2114287747
|
|
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu)
|
|
|
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_000435.3(NOTCH3):c.3536A>G (p.Asn1179Ser)
|
|
|
NM_000439.5(PCSK1):c.1381G>A (p.Val461Met)
|
|
|
NM_000439.5(PCSK1):c.1430+7A>G
|
|
|
NM_000439.5(PCSK1):c.638C>T (p.Ala213Val)
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.11A>G (p.Lys4Arg)
|
|
|
NM_000474.4(TWIST1):c.518del (p.Ala173fs)
|
rs2115396502
|
|
NM_000481.4(AMT):c.362A>G (p.Asn121Ser)
|
rs2049078071
|
|
NM_000483.5(APOC2):c.-14+8A>G
|
|
|
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_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
|
|
|
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg)
|
rs879254851
|
|
NM_000527.5(LDLR):c.1836C>T (p.Ala612=)
|
rs143872778
|
|
NM_000527.5(LDLR):c.1942T>G (p.Ser648Ala)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile)
|
rs137853964
|
|
NM_000527.5(LDLR):c.817+6C>T
|
|
|
NM_000540.3(RYR1):c.1460T>C (p.Leu487Pro)
|
rs1008860336
|
|
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)
|
rs544842497
|
|
NM_000548.5(TSC2):c.1257+5G>A
|
rs2151157428
|
|
NM_000548.5(TSC2):c.4573C>G (p.Gln1525Glu)
|
rs45517352
|
|
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_000618.5(IGF1):c.320T>G (p.Met107Arg)
|
|
|
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)
|
|
|
NM_000702.4(ATP1A2):c.433T>C (p.Ser145Pro)
|
rs2101985906
|
|
NM_000718.4(CACNA1B):c.3013G>A (p.Glu1005Lys)
|
rs1324362568
|
|
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)
|
|
|
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.477+100598G>A
|
|
|
NM_000719.7(CACNA1C):c.5444+584T>G
|
rs2153807364
|
|
NM_000719.7(CACNA1C):c.6404T>A (p.Val2135Asp)
|
|
|
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.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_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)
|
|
|
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.1355T>C (p.Met452Thr)
|
rs2102154147
|
|
NM_000815.5(GABRD):c.69-4C>T
|
rs1052163062
|
|
NM_000815.5(GABRD):c.715C>A (p.Leu239Met)
|
rs2102152232
|
|
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.163G>A (p.Glu55Lys)
|
rs763469464
|
|
NM_000834.5(GRIN2B):c.2639G>A (p.Arg880His)
|
rs904771425
|
|
NM_000834.5(GRIN2B):c.3796C>T (p.Pro1266Ser)
|
rs199935748
|
|
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_000892.5(KLKB1):c.-2+1G>C
|
rs954965096
|
|
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.3238A>G (p.Ile1080Val)
|
rs774247772
|
|
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.-20-675A>G
|
|
|
NM_000939.4(POMC):c.-21+8C>A
|
|
|
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)
|
|
|
NM_001003694.2(BRPF1):c.362A>C (p.Glu121Ala)
|
rs2125490572
|
|
NM_001003699.4(RREB1):c.1459C>T (p.Pro487Ser)
|
|
|
NM_001003699.4(RREB1):c.1604C>A (p.Pro535Gln)
|
|
|
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_001005242.3(PKP2):c.669_671dup (p.Gly224dup)
|
rs2137948788
|
|
NM_001005273.3(CHD3):c.214-5C>T
|
rs2151465885
|
|
NM_001005273.3(CHD3):c.3377G>C (p.Gly1126Ala)
|
rs1274009768
|
|
NM_001005273.3(CHD3):c.4361C>T (p.Ala1454Val)
|
|
|
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_001008537.3(NEXMIF):c.1021G>A (p.Val341Ile)
|
rs745417882
|
|
NM_001009996.3(DALRD3):c.1225C>T (p.Arg409Cys)
|
rs1466251286
|
|
NM_001014840.2(CUTA):c.202G>A (p.Val68Ile)
|
rs2151116808
|
|
NM_001015877.2(PHF6):c.497G>A (p.Arg166Lys)
|
|
|
NM_001018005.2(TPM1):c.563+53C>G
|
|
|
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.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)
|
|
|
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.14510C>T (p.Thr4837Met)
|
rs745481097
|
|
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)
|
|
|
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_001041.4(SI):c.1399-402_1513-1189dup
|
|
|
NM_001042413.2(GLIS3):c.-98-4A>G
|
|
|
NM_001042413.2(GLIS3):c.1710+59006G>A
|
|
|
NM_001042413.2(GLIS3):c.1710+80188T>A
|
|
|
NM_001042413.2(GLIS3):c.187C>T (p.Pro63Ser)
|
|
|
NM_001042413.2(GLIS3):c.389-58616G>C
|
|
|
NM_001042413.2(GLIS3):c.389-7364T>G
|
|
|
NM_001042413.2(GLIS3):c.491T>A (p.Ile164Asn)
|
|
|
NM_001042413.2(GLIS3):c.505A>G (p.Ser169Gly)
|
|
|
NM_001042413.2(GLIS3):c.709C>T (p.Leu237Phe)
|
|
|
NM_001042432.2(CLN3):c.771G>C (p.Glu257Asp)
|
rs73533466
|
|
NM_001042492.3(NF1):c.4174-22A>G
|
|
|
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.1735G>A (p.Gly579Ser)
|
|
|
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_001046.3(SLC12A2):c.2616+1547G>T
|
rs2126736189
|
|
NM_001046.3(SLC12A2):c.3566C>T (p.Ala1189Val)
|
rs768256710
|
|
NM_001070.5(TUBG1):c.940A>C (p.Asn314His)
|
rs2052059964
|
|
NM_001077350.3(NPRL3):c.394-1747del
|
rs2141952986
|
|
NM_001077350.3(NPRL3):c.653G>C (p.Arg218Pro)
|
rs201341279
|
|
NM_001077594.2(EXOC3L4):c.561C>G (p.Asp187Glu)
|
rs766530029
|
|
NM_001079537.2(TRAPPC6B):c.71A>G (p.Gln24Arg)
|
rs1371436271
|
|
NM_001079802.2(FKTN):c.-89+8A>G
|
|
|
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.1651T>A (p.Ser551Thr)
|
rs2147328768
|
|
NM_001079872.2(CUL4B):c.1743C>T (p.Gly581=)
|
|
|
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_001080477.4(TENM3):c.631A>G (p.Arg211Gly)
|
|
|
NM_001080477.4(TENM3):c.749+4836T>G
|
|
|
NM_001080517.3(SETD5):c.1711G>T (p.Val571Phe)
|
rs768631076
|
|
NM_001080517.3(SETD5):c.3011C>T (p.Pro1004Leu)
|
rs1335595318
|
|
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_001081.4(CUBN):c.3605C>T (p.Ala1202Val)
|
rs1835097031
|
|
NM_001081.4(CUBN):c.6254A>G (p.Asn2085Ser)
|
rs569527072
|
|
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.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.802+8G>C
|
rs2128241257
|
|
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr)
|
rs1060503682
|
|
NM_001105206.3(LAMA4):c.1318C>G (p.Arg440Gly)
|
rs140911762
|
|
NM_001109809.5(ZFP57):c.751C>T (p.Arg251Cys)
|
|
|
NM_001110556.2(FLNA):c.382G>A (p.Ala128Thr)
|
|
|
NM_001110556.2(FLNA):c.4403C>T (p.Pro1468Leu)
|
rs2067683771
|
|
NM_001110556.2(FLNA):c.5861-4C>G
|
|
|
NM_001110556.2(FLNA):c.6904C>T (p.Pro2302Ser)
|
rs201008265
|
|
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
|
rs61750249
|
|
NM_001111125.3(IQSEC2):c.3386A>T (p.Tyr1129Phe)
|
rs2074130698
|
|
NM_001113490.2(AMOT):c.3043_3044delinsT (p.Ala1015fs)
|
|
|
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)
|
|
|
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_001127208.3(TET2):c.5777G>A (p.Arg1926His)
|
|
|
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)
|
|
|
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.385C>T (p.Pro129Ser)
|
rs1391704383
|
|
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_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.2870G>A (p.Gly957Glu)
|
rs2141136377
|
|
NM_001134407.3(GRIN2A):c.3211C>T (p.His1071Tyr)
|
rs1555482611
|
|
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_001134407.3(GRIN2A):c.4324C>G (p.Pro1442Ala)
|
rs59975221
|
|
NM_001134771.2(SLC12A5):c.5G>A (p.Ser2Asn)
|
rs868778058
|
|
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_001144967.3(NEDD4L):c.1888G>C (p.Glu630Gln)
|
rs763159512
|
|
NM_001144967.3(NEDD4L):c.449T>C (p.Met150Thr)
|
rs2059009080
|
|
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_001160372.4(TRAPPC9):c.19A>G (p.Met7Val)
|
rs745921994
|
|
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_001164508.2(NEB):c.24850G>A (p.Glu8284Lys)
|
|
|
NM_001164664.2(MAST4):c.3526-3T>C
|
rs1342348159
|
|
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.1436T>C (p.Leu479Pro)
|
rs1697679015
|
|
NM_001165963.4(SCN1A):c.2044G>A (p.Gly682Arg)
|
rs1398374184
|
|
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_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.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.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
|
|
|
NM_001197104.2(KMT2A):c.10549G>A (p.Gly3517Ser)
|
rs2134413643
|
|
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.4433G>A (p.Arg1478His)
|
rs1555041629
|
|
NM_001197104.2(KMT2A):c.6518C>T (p.Pro2173Leu)
|
rs2134384180
|
|
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_001205019.2(GK):c.197A>C (p.Glu66Ala)
|
rs2147144601
|
|
NM_001205293.3(CACNA1E):c.1422A>T (p.Lys474Asn)
|
rs2102461555
|
|
NM_001205293.3(CACNA1E):c.2314C>T (p.Arg772Trp)
|
rs1355669731
|
|
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_001220484.1(HEATR4):c.1768G>A (p.Gly590Ser)
|
|
|
NM_001220484.1(HEATR4):c.646C>T (p.Arg216Ter)
|
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.362G>A (p.Arg121His)
|
|
|
NM_001242896.3(DEPDC5):c.1081+4A>G
|
rs757563918
|
|
NM_001242896.3(DEPDC5):c.1274T>C (p.Leu425Pro)
|
rs2148665735
|
|
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_001243156.2(TAF1C):c.1522del (p.Gln508fs)
|
rs753315015
|
|
NM_001244008.2(KIF1A):c.179C>A (p.Thr60Asn)
|
rs2126098516
|
|
NM_001244008.2(KIF1A):c.3744C>G (p.Asn1248Lys)
|
rs771357052
|
|
NM_001244008.2(KIF1A):c.5214+3G>A
|
rs1394328434
|
|
NM_001256012.3(MYH10):c.4148AGG[7] (p.Glu1388dup)
|
rs146612839
|
|
NM_001256012.3(MYH10):c.5681G>A (p.Arg1894Gln)
|
rs1038557470
|
|
NM_001256071.3(RNF213):c.13062G>C (p.Lys4354Asn)
|
rs2144536464
|
|
NM_001256155.3(ARMCX4):c.134T>C (p.Val45Ala)
|
|
|
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)
|
|
|
NM_001267550.2(TTN):c.106572G>T (p.Lys35524Asn)
|
|
|
NM_001267550.2(TTN):c.12151G>T (p.Asp4051Tyr)
|
|
|
NM_001267550.2(TTN):c.16985G>A (p.Gly5662Asp)
|
|
|
NM_001267550.2(TTN):c.1863A>C (p.Lys621Asn)
|
|
|
NM_001267550.2(TTN):c.19655C>T (p.Thr6552Ile)
|
|
|
NM_001267550.2(TTN):c.19993+6C>T
|
|
|
NM_001267550.2(TTN):c.22496C>T (p.Thr7499Ile)
|
|
|
NM_001267550.2(TTN):c.23329A>G (p.Thr7777Ala)
|
|
|
NM_001267550.2(TTN):c.26333G>C (p.Arg8778Thr)
|
|
|
NM_001267550.2(TTN):c.26653T>G (p.Ser8885Ala)
|
|
|
NM_001267550.2(TTN):c.29285C>T (p.Thr9762Ile)
|
|
|
NM_001267550.2(TTN):c.33277G>A (p.Glu11093Lys)
|
|
|
NM_001267550.2(TTN):c.3476G>T (p.Arg1159Leu)
|
rs149883066
|
|
NM_001267550.2(TTN):c.35224A>G (p.Lys11742Glu)
|
|
|
NM_001267550.2(TTN):c.35363A>G (p.Glu11788Gly)
|
|
|
NM_001267550.2(TTN):c.36267_36280+16del
|
rs745871962
|
|
NM_001267550.2(TTN):c.38488G>A (p.Ala12830Thr)
|
|
|
NM_001267550.2(TTN):c.38918C>G (p.Pro12973Arg)
|
|
|
NM_001267550.2(TTN):c.40761_40766del (p.Glu13588_Pro13589del)
|
|
|
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.43156G>A (p.Gly14386Arg)
|
|
|
NM_001267550.2(TTN):c.44053G>A (p.Glu14685Lys)
|
|
|
NM_001267550.2(TTN):c.50869A>G (p.Ile16957Val)
|
rs372013419
|
|
NM_001267550.2(TTN):c.52405+4A>G
|
|
|
NM_001267550.2(TTN):c.53741A>C (p.Lys17914Thr)
|
|
|
NM_001267550.2(TTN):c.628A>G (p.Thr210Ala)
|
|
|
NM_001267550.2(TTN):c.64880G>T (p.Gly21627Val)
|
rs2154180072
|
|
NM_001267550.2(TTN):c.64906G>C (p.Ala21636Pro)
|
|
|
NM_001267550.2(TTN):c.65143C>G (p.Arg21715Gly)
|
rs766522121
|
|
NM_001267550.2(TTN):c.71266G>A (p.Gly23756Ser)
|
|
|
NM_001267550.2(TTN):c.72988C>T (p.Pro24330Ser)
|
|
|
NM_001267550.2(TTN):c.74597C>G (p.Thr24866Arg)
|
|
|
NM_001267550.2(TTN):c.74609C>T (p.Ala24870Val)
|
|
|
NM_001267550.2(TTN):c.80294T>C (p.Val26765Ala)
|
|
|
NM_001267550.2(TTN):c.81905A>G (p.Lys27302Arg)
|
rs2154162241
|
|
NM_001267550.2(TTN):c.82682T>C (p.Phe27561Ser)
|
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
NM_001267550.2(TTN):c.88379T>C (p.Leu29460Pro)
|
|
|
NM_001267550.2(TTN):c.89047G>A (p.Val29683Ile)
|
|
|
NM_001267550.2(TTN):c.89136C>A (p.Asn29712Lys)
|
|
|
NM_001267550.2(TTN):c.91583T>G (p.Phe30528Cys)
|
|
|
NM_001267550.2(TTN):c.94520T>C (p.Val31507Ala)
|
|
|
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His)
|
rs200540781
|
|
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.4976G>C (p.Arg1659Thr)
|
rs2112435759
|
|
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.5126A>T (p.His1709Leu)
|
rs1172858416
|
|
NM_001271.4(CHD2):c.878G>A (p.Ser293Asn)
|
rs1555439526
|
|
NM_001273.5(CHD4):c.5119+6G>C
|
|
|
NM_001273.5(CHD4):c.5669G>T (p.Arg1890Leu)
|
rs201121936
|
|
NM_001278293.3(ARL6):c.-27-3C>T
|
|
|
NM_001278293.3(ARL6):c.254+1371G>A
|
|
|
NM_001278512.2(AP3B2):c.2599C>T (p.Pro867Ser)
|
rs2151427966
|
|
NM_001281740.3(FHOD3):c.1097C>T (p.Ser366Leu)
|
|
|
NM_001281740.3(FHOD3):c.1912C>T (p.Arg638Trp)
|
|
|
NM_001281740.3(FHOD3):c.928G>A (p.Asp310Asn)
|
|
|
NM_001282116.2(RFX3):c.2179G>C (p.Glu727Gln)
|
rs1267719538
|
|
NM_001282531.3(ADNP):c.3045_3047del (p.Lys1016del)
|
rs761350619
|
|
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_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_001303256.3(MORC2):c.3094G>T (p.Asp1032Tyr)
|
rs2040491146
|
|
NM_001304284.2(USP6):c.-1299+1281G>A
|
|
|
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_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_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.3245A>T (p.Asp1082Val)
|
rs2138868846
|
|
NM_001330260.2(SCN8A):c.3367A>C (p.Lys1123Gln)
|
rs1555226186
|
|
NM_001330260.2(SCN8A):c.3433G>A (p.Glu1145Lys)
|
rs1324401898
|
|
NM_001330260.2(SCN8A):c.3820-1G>T
|
rs1373881732
|
|
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.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.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.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_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.908C>T (p.Ala303Val)
|
|
|
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.9799C>T (p.Arg3267Trp)
|
rs538720577
|
|
NM_001366110.1(PAX4):c.-101_-100+2del
|
|
|
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)
|
rs112061448
|
|
NM_001366110.1(PAX4):c.454G>A (p.Val152Ile)
|
|
|
NM_001366110.1(PAX4):c.574_588del (p.Gly192_Asp196del)
|
|
|
NM_001366110.1(PAX4):c.677G>A (p.Arg226His)
|
|
|
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_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
|
|
|
NM_001367943.1(TCF7L2):c.1162-7C>A
|
rs2137177533
|
|
NM_001369.3(DNAH5):c.2260-2552G>T
|
|
|
NM_001369.3(DNAH5):c.2869G>A (p.Glu957Lys)
|
|
|
NM_001369.3(DNAH5):c.[2577+5T>G;5413C>T]
|
|
|
NM_001369268.1(ACAN):c.2690G>A (p.Gly897Glu)
|
rs1897026077
|
|
NM_001370100.5(ZMYND11):c.117-534_276+3387dup
|
|
|
NM_001370100.5(ZMYND11):c.439-7T>A
|
rs1950072373
|
|
NM_001370466.1(NOD2):c.1579del (p.Ala527fs)
|
rs2150811580
|
|
NM_001370466.1(NOD2):c.2906C>T (p.Thr969Ile)
|
rs1567407613
|
|
NM_001371189.2(UNC13B):c.12182C>T (p.Pro4061Leu)
|
rs1410465047
|
|
NM_001371904.1(APOA5):c.1081A>C (p.Ser361Arg)
|
|
|
NM_001371904.1(APOA5):c.644C>T (p.Pro215Leu)
|
|
|
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_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.2069C>T (p.Pro690Leu)
|
rs779239519
|
|
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.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_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.5182G>A (p.Gly1728Ser)
|
rs77319596
|
|
NM_001376.5(DYNC1H1):c.568G>A (p.Glu190Lys)
|
rs1566996419
|
|
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)
|
|
|
NM_001376.5(DYNC1H1):c.9436A>G (p.Ser3146Gly)
|
rs2048470658
|
|
NM_001376571.1(MADD):c.1943G>T (p.Cys648Phe)
|
rs540783175
|
|
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)
|
|
|
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_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_001378454.1(ALMS1):c.10374C>G (p.Ile3458Met)
|
rs767799669
|
|
NM_001378454.1(ALMS1):c.10384+1632G>A
|
|
|
NM_001378454.1(ALMS1):c.10771A>G (p.Thr3591Ala)
|
|
|
NM_001378454.1(ALMS1):c.10828A>G (p.Arg3610Gly)
|
|
|
NM_001378454.1(ALMS1):c.11009G>C (p.Arg3670Thr)
|
rs1674969661
|
|
NM_001378454.1(ALMS1):c.12502G>A (p.Asp4168Asn)
|
|
|
NM_001378454.1(ALMS1):c.2221_2222insTAA (p.Leu740_Thr741insIle)
|
|
|
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
|
|
|
NM_001378454.1(ALMS1):c.2966A>G (p.Asp989Gly)
|
|
|
NM_001378454.1(ALMS1):c.3013C>T (p.His1005Tyr)
|
rs1039388814
|
|
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
|
|
|
NM_001378454.1(ALMS1):c.3980C>T (p.Pro1327Leu)
|
rs764135588
|
|
NM_001378454.1(ALMS1):c.4339C>T (p.His1447Tyr)
|
|
|
NM_001378454.1(ALMS1):c.443A>T (p.Asp148Val)
|
|
|
NM_001378454.1(ALMS1):c.5361T>A (p.Asn1787Lys)
|
|
|
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)
|
|
|
NM_001378454.1(ALMS1):c.6523G>A (p.Ala2175Thr)
|
rs1572937937
|
|
NM_001378454.1(ALMS1):c.6575G>A (p.Gly2192Asp)
|
|
|
NM_001378454.1(ALMS1):c.6665T>C (p.Leu2222Pro)
|
|
|
NM_001378454.1(ALMS1):c.6799A>T (p.Met2267Leu)
|
|
|
NM_001378454.1(ALMS1):c.7273T>G (p.Ser2425Ala)
|
|
|
NM_001378454.1(ALMS1):c.7817C>G (p.Ser2606Cys)
|
|
|
NM_001378454.1(ALMS1):c.8597A>C (p.Lys2866Thr)
|
|
|
NM_001378454.1(ALMS1):c.9709C>T (p.Leu3237=)
|
|
|
NM_001378457.1(DMXL2):c.358C>T (p.Pro120Ser)
|
rs2050187178
|
|
NM_001378615.1(CC2D2A):c.676G>A (p.Glu226Lys)
|
rs1716561509
|
|
NM_001379029.1(CERT1):c.-121del
|
rs893362976
|
|
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_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.2956C>T (p.Pro986Ser)
|
rs753873000
|
|
NM_001379500.1(COL18A1):c.845C>T (p.Thr282Met)
|
|
|
NM_001382280.1(LRRC53):c.2630C>T (p.Ala877Val)
|
|
|
NM_001382567.1(STIM1):c.385+10749C>T
|
rs763147075
|
|
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_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.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_001386125.1(OBSCN):c.9469C>T (p.Arg3157Trp)
|
|
|
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)
|
|
|
NM_001386140.1(MTTP):c.2011C>A (p.Leu671Met)
|
|
|
NM_001386140.1(MTTP):c.2663G>A (p.Ser888Asn)
|
|
|
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_001386795.1(DTNA):c.953C>A (p.Pro318His)
|
rs727505085
|
|
NM_001386863.1(ACIN1):c.1831A>G (p.Thr611Ala)
|
|
|
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.12752A>G (p.His4251Arg)
|
rs928357099
|
|
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.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_001416403.1(LOC128462377):c.9+48691C>T
|
|
|
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_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.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_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
|
|
|
NM_001750.7(CAST):c.587G>T (p.Ser196Ile)
|
|
|
NM_001753.5(CAV1):c.236A>G (p.His79Arg)
|
|
|
NM_001753.5(CAV1):c.257A>G (p.Lys86Arg)
|
|
|
NM_001753.5(CAV1):c.30G>C (p.Glu10Asp)
|
rs2115921451
|
|
NM_001753.5(CAV1):c.326T>A (p.Ile109Asn)
|
|
|
NM_001792.5(CDH2):c.1604C>G (p.Thr535Ser)
|
|
|
NM_001794.5(CDH4):c.1835C>T (p.Ala612Val)
|
rs951281332
|
|
NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs)
|
|
|
NM_001807.6(CEL):c.1427A>G (p.Gln476Arg)
|
|
|
NM_001807.6(CEL):c.341-83C>T
|
|
|
NM_001807.6(CEL):c.472G>A (p.Val158Met)
|
|
|
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_001845.6(COL4A1):c.343G>A (p.Gly115Ser)
|
|
|
NM_001846.4(COL4A2):c.2269C>T (p.Pro757Ser)
|
rs1882537795
|
|
NM_001846.4(COL4A2):c.284C>A (p.Ala95Asp)
|
rs754829210
|
|
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_001846.4(COL4A2):c.964C>T (p.Arg322Ter)
|
|
|
NM_001854.4(COL11A1):c.1351-1G>A
|
rs1666692498
|
|
NM_001854.4(COL11A1):c.2711G>T (p.Gly904Val)
|
rs2101679210
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
NM_001943.5(DSG2):c.875G>A (p.Arg292His)
|
rs185821167
|
|
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)
|
|
|
NM_001999.4(FBN2):c.6620C>T (p.Thr2207Ile)
|
|
|
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_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_002224.4(ITPR3):c.4218C>G (p.Ile1406Met)
|
|
|
NM_002230.4(JUP):c.135G>C (p.Glu45Asp)
|
rs2143735253
|
|
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del)
|
rs781818082
|
|
NM_002234.4(KCNA5):c.10G>T (p.Ala4Ser)
|
|
|
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)
|
|
|
NM_002303.6(LEPR):c.3240A>C (p.Leu1080Phe)
|
|
|
NM_002303.6(LEPR):c.346A>C (p.Asn116His)
|
|
|
NM_002303.6(LEPR):c.495-2927T>G
|
|
|
NM_002303.6(LEPR):c.976C>T (p.Arg326Cys)
|
|
|
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_002470.4(MYH3):c.3125A>G (p.Glu1042Gly)
|
rs2074245603
|
|
NM_002471.4(MYH6):c.-46-40G>A
|
|
|
NM_002471.4(MYH6):c.5803dup (p.Met1935fs)
|
rs768525215
|
|
NM_002473.6(MYH9):c.2161_2165del
|
|
|
NM_002473.6(MYH9):c.2810AGA[3] (p.Lys940del)
|
rs1353636692
|
|
NM_002474.3(MYH11):c.5052C>G (p.Ser1684Arg)
|
rs760908992
|
|
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_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.2219G>A (p.Arg740Gln)
|
rs752897300
|
|
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_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
|
|
|
NM_002968.3(SALL1):c.424G>C (p.Gly142Arg)
|
rs553871743
|
|
NM_002971.6(SATB1):c.468G>C (p.Met156Ile)
|
rs1698096497
|
|
NM_003011.4(SET):c.670G>A (p.Asp224Asn)
|
rs2132255761
|
|
NM_003036.4(SKI):c.2057_2071dup (p.Arg690_Glu691insAlaAspLeuLeuArg)
|
rs2100925789
|
|
NM_003036.4(SKI):c.623C>T (p.Ala208Val)
|
rs1276237576
|
|
NM_003041.4(SLC5A2):c.1036G>A (p.Val346Met)
|
|
|
NM_003041.4(SLC5A2):c.1690C>T (p.Arg564Trp)
|
|
|
NM_003041.4(SLC5A2):c.1792+2T>C
|
|
|
NM_003041.4(SLC5A2):c.226A>G (p.Ile76Val)
|
|
|
NM_003041.4(SLC5A2):c.350A>G (p.Tyr117Cys)
|
|
|
NM_003041.4(SLC5A2):c.655+5G>A
|
|
|
NM_003041.4(SLC5A2):c.673G>A (p.Gly225Arg)
|
|
|
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.1118+4C>G
|
rs374197835
|
|
NM_003079.5(SMARCE1):c.370-10T>C
|
rs763801620
|
|
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_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_003221.4(TFAP2B):c.1302C>G (p.Asn434Lys)
|
|
|
NM_003221.4(TFAP2B):c.811G>C (p.Val271Leu)
|
|
|
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.202G>A (p.Ala68Thr)
|
rs1246486173
|
|
NM_003403.5(YY1):c.608A>G (p.Lys203Arg)
|
rs1890700748
|
|
NM_003470.3(USP7):c.3111+8G>T
|
rs112094515
|
|
NM_003470.3(USP7):c.852-4A>G
|
rs1264253074
|
|
NM_003482.4(KMT2D):c.10946G>T (p.Gly3649Val)
|
rs1943073751
|
|
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.7777C>A (p.Pro2593Thr)
|
rs2120520690
|
|
NM_003482.4(KMT2D):c.8102G>A (p.Arg2701Gln)
|
rs1943386777
|
|
NM_003482.4(KMT2D):c.9302C>T (p.Pro3101Leu)
|
rs1271758887
|
|
NM_003482.4(KMT2D):c.9955G>A (p.Gly3319Ser)
|
rs1291730464
|
|
NM_003491.4(NAA10):c.418G>T (p.Asp140Tyr)
|
rs2148534337
|
|
NM_003491.4(NAA10):c.472-38C>G
|
rs2065158858
|
|
NM_003619.4(PRSS12):c.19G>A (p.Val7Met)
|
rs148007619
|
|
NM_003620.4(PPM1D):c.267C>G (p.Ser89Arg)
|
rs900654745
|
|
NM_003673.4(TCAP):c.394G>C (p.Glu132Gln)
|
|
|
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_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_004004.6(GJB2):c.187G>T (p.Val63Leu)
|
rs370696868
|
|
NM_004035.7(ACOX1):c.1504C>G (p.Leu502Val)
|
rs2065754693
|
|
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.145G>C (p.Val49Leu)
|
rs199832838
|
|
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_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_004284.6(CHD1L):c.459T>G (p.Tyr153Ter)
|
rs1669968602
|
|
NM_004333.6(BRAF):c.1190G>A (p.Gly397Asp)
|
rs1554400237
|
|
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.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.6839G>A (p.Gly2280Glu)
|
rs781438241
|
|
NM_004380.3(CREBBP):c.878T>A (p.Val293Glu)
|
rs1239213391
|
|
NM_004387.4(NKX2-5):c.763G>A (p.Ala255Thr)
|
rs759518211
|
|
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_004408.4(DNM1):c.2535-613C>T
|
rs1385389663
|
|
NM_004415.4(DSP):c.170+2341A>G
|
|
|
NM_004415.4(DSP):c.3667G>A (p.Glu1223Lys)
|
|
|
NM_004444.5(EPHB4):c.1526C>G (p.Ala509Gly)
|
rs146937374
|
|
NM_004456.5(EZH2):c.1579C>A (p.Pro527Thr)
|
rs2129470135
|
|
NM_004517.4(ILK):c.590C>T (p.Thr197Met)
|
rs767383055
|
|
NM_004519.4(KCNQ3):c.386+67111C>T
|
rs2130799710
|
|
NM_004522.3(KIF5C):c.952C>A (p.Leu318Met)
|
rs2105113901
|
|
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.13438G>A (p.Gly4480Ser)
|
rs2142056746
|
|
NM_004714.3(DYRK1B):c.1285G>C (p.Gly429Arg)
|
|
|
NM_004714.3(DYRK1B):c.1627C>T (p.Pro543Ser)
|
|
|
NM_004714.3(DYRK1B):c.1640G>A (p.Arg547Gln)
|
|
|
NM_004714.3(DYRK1B):c.1748C>T (p.Ala583Val)
|
|
|
NM_004714.3(DYRK1B):c.63+7G>A
|
|
|
NM_004736.4(XPR1):c.1093A>T (p.Thr365Ser)
|
rs141311408
|
|
NM_004758.4(TSPOAP1):c.2179C>G (p.Leu727Val)
|
rs138739517
|
|
NM_004818.3(DDX23):c.1361C>T (p.Thr454Ile)
|
rs2137484031
|
|
NM_004836.7(EIF2AK3):c.3100G>A (p.Val1034Ile)
|
|
|
NM_004859.4(CLTC):c.2282A>G (p.Asn761Ser)
|
rs771059610
|
|
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.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_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)
|
|
|
NM_004985.5(KRAS):c.58A>G (p.Thr20Ala)
|
rs2135806003
|
|
NM_004990.4(MARS1):c.2621C>G (p.Ala874Gly)
|
|
|
NM_004994.3(MMP9):c.1222G>A (p.Gly408Ser)
|
rs2145454351
|
|
NM_004999.4(MYO6):c.917T>C (p.Met306Thr)
|
rs2150278897
|
|
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_005060.4(RORC):c.821_933+84del
|
|
|
NM_005068.3(SIM1):c.-468+6T>A
|
|
|
NM_005068.3(SIM1):c.1514G>C (p.Ser505Thr)
|
|
|
NM_005070.4(SLC4A3):c.1456A>G (p.Lys486Glu)
|
|
|
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.4413G>A (p.Lys1471=)
|
rs2092320033
|
|
NM_005121.3(MED13):c.1568A>G (p.His523Arg)
|
rs2080502273
|
|
NM_005121.3(MED13):c.3796A>G (p.Lys1266Glu)
|
rs1567957489
|
|
NM_005121.3(MED13):c.4468C>T (p.Pro1490Ser)
|
rs756580776
|
|
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.195+6902A>G
|
|
|
NM_005188.4(CBL):c.2086G>C (p.Glu696Gln)
|
rs539217274
|
|
NM_005188.4(CBL):c.444-6862G>A
|
rs2135290907
|
|
NM_005219.5(DIAPH1):c.1735C>T (p.Arg579Cys)
|
|
|
NM_005235.3(ERBB4):c.1554C>G (p.Asp518Glu)
|
rs1471389448
|
|
NM_005247.4(FGF3):c.269G>T (p.Gly90Val)
|
|
|
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
|
|
|
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)
|
|
|
NM_005391.5(PDK3):c.1187C>T (p.Pro396Leu)
|
rs761831322
|
|
NM_005393.3(PLXNB3):c.220C>T (p.Leu74Phe)
|
rs2148413029
|
|
NM_005445.4(SMC3):c.2783G>A (p.Arg928Gln)
|
rs2134752688
|
|
NM_005456.4(MAPK8IP1):c.1666+5T>C
|
|
|
NM_005458.8(GABBR2):c.*1906T>C
|
rs1588081632
|
|
NM_005458.8(GABBR2):c.166C>G (p.Leu56Val)
|
rs1830933309
|
|
NM_005465.7(AKT3):c.47-52492A>G
|
rs1688596080
|
|
NM_005474.5(HDAC5):c.22+1436G>T
|
|
|
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.2504C>T (p.Ser835Phe)
|
|
|
NM_005477.3(HCN4):c.3392G>A (p.Ser1131Asn)
|
|
|
NM_005502.4(ABCA1):c.1227C>G (p.Phe409Leu)
|
|
|
NM_005502.4(ABCA1):c.2005G>C (p.Glu669Gln)
|
|
|
NM_005502.4(ABCA1):c.2995C>T (p.Arg999Cys)
|
|
|
NM_005502.4(ABCA1):c.3462+510A>G
|
|
|
NM_005502.4(ABCA1):c.3584G>A (p.Arg1195Gln)
|
|
|
NM_005502.4(ABCA1):c.4464+398C>T
|
|
|
NM_005502.4(ABCA1):c.5762A>G (p.Tyr1921Cys)
|
|
|
NM_005502.4(ABCA1):c.6057A>C (p.Lys2019Asn)
|
|
|
NM_005502.4(ABCA1):c.6113G>A (p.Gly2038Glu)
|
|
|
NM_005502.4(ABCA1):c.720+3681G>A
|
|
|
NM_005505.5(SCARB1):c.83T>C (p.Met28Thr)
|
|
|
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser)
|
rs143558324
|
|
NM_005529.7(HSPG2):c.9900_9902dup (p.Ala3301dup)
|
rs1345312289
|
|
NM_005554.4(KRT6A):c.1650G>T (p.Lys550Asn)
|
|
|
NM_005585.5(SMAD6):c.785A>T (p.Asn262Ile)
|
rs1436851649
|
|
NM_005618.4(DLL1):c.1174C>T (p.Arg392Cys)
|
rs1165017188
|
|
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)
|
|
|
NM_005739.4(RASGRP1):c.2163G>T (p.Lys721Asn)
|
|
|
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_005912.3(MC4R):c.221A>T (p.Asn74Ile)
|
|
|
NM_005912.3(MC4R):c.895C>T (p.Pro299Ser)
|
|
|
NM_005912.3(MC4R):c.973C>A (p.Leu325Ile)
|
|
|
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)
|
|
|
NM_006005.3(WFS1):c.1620G>T (p.Trp540Cys)
|
|
|
NM_006005.3(WFS1):c.2101A>T (p.Thr701Ser)
|
|
|
NM_006005.3(WFS1):c.2385G>C (p.Glu795Asp)
|
rs373310972
|
|
NM_006005.3(WFS1):c.578dup (p.Gln194fs)
|
rs779272128
|
|
NM_006005.3(WFS1):c.631+4C>T
|
rs377209257
|
|
NM_006014.5(LAGE3):c.184A>G (p.Ile62Val)
|
|
|
NM_006015.6(ARID1A):c.1126C>T (p.Arg376Trp)
|
rs1018092020
|
|
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.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.131C>T (p.Ser44Leu)
|
rs1384767070
|
|
NM_006035.4(CDC42BPB):c.2063C>T (p.Ser688Phe)
|
rs1893332407
|
|
NM_006035.4(CDC42BPB):c.3749-2A>C
|
rs2139369908
|
|
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.1870G>C (p.Val624Leu)
|
|
|
NM_006201.5(CDK16):c.-6-416C>T
|
rs1937418084
|
|
NM_006231.4(POLE):c.3245G>T (p.Arg1082Leu)
|
rs201744227
|
|
NM_006265.3(RAD21):c.1143G>C (p.Trp381Cys)
|
rs2130462808
|
|
NM_006267.5(RANBP2):c.754G>A (p.Val252Met)
|
rs1396959311
|
|
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_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
|
|
|
NM_006393.3(NEBL):c.1444A>C (p.Ser482Arg)
|
|
|
NM_006412.4(AGPAT2):c.151C>T (p.Arg51Cys)
|
|
|
NM_006412.4(AGPAT2):c.22G>A (p.Ala8Thr)
|
|
|
NM_006412.4(AGPAT2):c.640AAG[2] (p.Lys216del)
|
|
|
NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)
|
|
|
NM_006412.4(AGPAT2):c.788C>G (p.Pro263Arg)
|
|
|
NM_006421.5(ARFGEF1):c.4156C>G (p.Leu1386Val)
|
|
|
NM_006469.5(IVNS1ABP):c.1910del (p.Thr637fs)
|
|
|
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_006565.4(CTCF):c.203C>G (p.Pro68Arg)
|
rs752391941
|
|
NM_006565.4(CTCF):c.529A>G (p.Thr177Ala)
|
rs1430339540
|
|
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.1643C>T (p.Thr548Ile)
|
rs760177241
|
|
NM_006734.4(HIVEP2):c.446G>A (p.Gly149Asp)
|
rs1403489512
|
|
NM_006734.4(HIVEP2):c.4802A>T (p.His1601Leu)
|
rs1775480229
|
|
NM_006734.4(HIVEP2):c.5456G>A (p.Arg1819His)
|
rs1346207059
|
|
NM_006734.4(HIVEP2):c.956T>G (p.Leu319Trp)
|
rs373903307
|
|
NM_006766.5(KAT6A):c.254C>T (p.Pro85Leu)
|
rs2150932891
|
|
NM_006766.5(KAT6A):c.2696A>G (p.Tyr899Cys)
|
rs745933378
|
|
NM_006766.5(KAT6A):c.3775A>G (p.Asn1259Asp)
|
rs1240578716
|
|
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.3835G>A (p.Ala1279Thr)
|
rs1165427519
|
|
NM_006846.4(SPINK5):c.899A>G (p.Tyr300Cys)
|
rs2113105257
|
|
NM_006895.3(HNMT):c.137+2287G>A
|
|
|
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_006940.6(SOX5):c.1017G>A (p.Gln339=)
|
rs2138723102
|
|
NM_006940.6(SOX5):c.1343-4733C>T
|
rs1947477250
|
|
NM_006940.6(SOX5):c.347G>C (p.Gly116Ala)
|
|
|
NM_006946.4(SPTBN2):c.5056C>G (p.Arg1686Gly)
|
rs368373337
|
|
NM_006950.3(SYN1):c.1158+8C>T
|
|
|
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.1231+949C>T
|
|
|
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.7001G>C (p.Ser2334Thr)
|
rs375274497
|
|
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_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)
|
|
|
NM_012199.5(AGO1):c.1663C>G (p.Pro555Ala)
|
rs1645687616
|
|
NM_012210.4(TRIM32):c.1294C>T (p.Leu432Phe)
|
|
|
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.425C>T (p.Thr142Ile)
|
rs1054836015
|
|
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)
|
|
|
NM_013266.4(CTNNA3):c.1009_1015del (p.Gln337fs)
|
|
|
NM_013266.4(CTNNA3):c.91A>G (p.Ile31Val)
|
|
|
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.-145+4A>T
|
rs895163510
|
|
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)
|
|
|
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.6043T>C (p.Tyr2015His)
|
rs1395480845
|
|
NM_013275.6(ANKRD11):c.7114C>T (p.Arg2372Cys)
|
rs1192971319
|
|
NM_013336.4(SEC61A1):c.616+7G>A
|
rs775477059
|
|
NM_013436.5(NCKAP1):c.317A>G (p.His106Arg)
|
rs2105876212
|
|
NM_013450.4(BAZ2B):c.2255+10A>G
|
rs1302278630
|
|
NM_014000.3(VCL):c.1343T>C (p.Leu448Pro)
|
|
|
NM_014000.3(VCL):c.1360G>A (p.Gly454Arg)
|
|
|
NM_014000.3(VCL):c.1379G>C (p.Arg460Pro)
|
|
|
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.1496C>T (p.Thr499Ile)
|
rs2043173937
|
|
NM_014159.7(SETD2):c.1745T>C (p.Ile582Thr)
|
rs2043159637
|
|
NM_014159.7(SETD2):c.2070A>C (p.Lys690Asn)
|
|
|
NM_014159.7(SETD2):c.2188A>G (p.Lys730Glu)
|
|
|
NM_014159.7(SETD2):c.2320G>C (p.Val774Leu)
|
rs2043131227
|
|
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.5365G>A (p.Gly1789Ser)
|
|
|
NM_014159.7(SETD2):c.5713G>A (p.Gly1905Ser)
|
|
|
NM_014159.7(SETD2):c.6110C>T (p.Thr2037Ile)
|
rs914740277
|
|
NM_014159.7(SETD2):c.638C>G (p.Ala213Gly)
|
|
|
NM_014159.7(SETD2):c.6917A>G (p.Tyr2306Cys)
|
|
|
NM_014159.7(SETD2):c.999T>G (p.Ser333Arg)
|
|
|
NM_014208.3(DSPP):c.1661G>A (p.Ser554Asn)
|
rs1727806052
|
|
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_014413.4(EIF2AK1):c.1144A>G (p.Ile382Val)
|
rs2128888556
|
|
NM_014423.4(AFF4):c.1520_1521delinsAT (p.Arg507His)
|
|
|
NM_014423.4(AFF4):c.2144T>C (p.Ile715Thr)
|
rs755145233
|
|
NM_014423.4(AFF4):c.2656T>A (p.Ser886Thr)
|
|
|
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_014494.4(TNRC6A):c.3838-10G>T
|
rs760665329
|
|
NM_014495.4(ANGPTL3):c.280GAA[2] (p.Glu96del)
|
|
|
NM_014495.4(ANGPTL3):c.956A>G (p.Lys319Arg)
|
|
|
NM_014495.4(ANGPTL3):c.995G>A (p.Arg332Gln)
|
|
|
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.2197G>A (p.Gly733Arg)
|
rs1970118036
|
|
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_014712.3(SETD1A):c.4298C>T (p.Ser1433Leu)
|
rs375585323
|
|
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_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.1219G>A (p.Glu407Lys)
|
rs2091890198
|
|
NM_014927.5(CNKSR2):c.2637GGA[5] (p.Glu885_Glu886del)
|
rs770084913
|
|
NM_014975.3(MAST1):c.262C>T (p.Arg88Trp)
|
|
|
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_015028.4(TNIK):c.2737A>C (p.Lys913Gln)
|
rs1340420482
|
|
NM_015030.2(FRYL):c.599_600del (p.Val200fs)
|
rs2149267090
|
|
NM_015044.4(GGA2):c.298G>A (p.Glu100Lys)
|
rs2142133125
|
|
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)
|
|
|
NM_015215.4(CAMTA1):c.4159G>A (p.Gly1387Ser)
|
rs754039295
|
|
NM_015215.4(CAMTA1):c.4631G>A (p.Arg1544Gln)
|
rs756980317
|
|
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_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.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_015335.5(MED13L):c.5986A>G (p.Ile1996Val)
|
rs1272594944
|
|
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_015466.4(PTPN23):c.4258G>C (p.Glu1420Gln)
|
rs141407213
|
|
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.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.624+2202A>G
|
rs2129573053
|
|
NM_015570.4(AUTS2):c.701C>T (p.Ala234Val)
|
rs1328605193
|
|
NM_015627.3(LDLRAP1):c.65G>T (p.Trp22Leu)
|
|
|
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
|
|
|
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
|
|
|
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His)
|
rs746597294
|
|
NM_015662.3(IFT172):c.517G>C (p.Asp173His)
|
|
|
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.1118A>G (p.Lys373Arg)
|
|
|
NM_016148.5(SHANK1):c.3605C>T (p.Pro1202Leu)
|
rs2123082607
|
|
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)
|
|
|
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_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)
|
|
|
NM_016592.5(GNAS):c.7C>G (p.Arg3Gly)
|
|
|
NM_016628.5(WAC):c.1597A>G (p.Asn533Asp)
|
rs1841460217
|
|
NM_016628.5(WAC):c.275-22319G>T
|
rs2132485043
|
|
NM_016824.5(ADD3):c.313G>A (p.Gly105Ser)
|
rs1850227925
|
|
NM_016953.4(PDE11A):c.2678C>A (p.Pro893Gln)
|
rs200504859
|
|
NM_017514.5(PLXNA3):c.746_795delinsCCCAGACACAGCGGGCGAGAAATTTTCACGTCCAAAAT (p.Leu249_Met265delinsProGlnThrGlnArgAlaArgAsnPheHisValGlnAsn)
|
rs2148244525
|
|
NM_017588.3(WDR5):c.*1943_*1944del
|
rs1485562050
|
|
NM_017617.5(NOTCH1):c.6157A>C (p.Asn2053His)
|
rs1474607963
|
|
NM_017635.5(KMT5B):c.1174+1575C>G
|
|
|
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_017649.5(CNNM2):c.1622-56334_1622-56333del
|
rs1371214636
|
|
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_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.1163C>A (p.Ser388Tyr)
|
|
|
NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)
|
|
|
NM_017777.4(MKS1):c.396T>G (p.Asp132Glu)
|
|
|
NM_017777.4(MKS1):c.418-79G>T
|
|
|
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.6598G>C (p.Gly2200Arg)
|
rs747357928
|
|
NM_017780.4(CHD7):c.7465C>A (p.Leu2489Ile)
|
|
|
NM_017780.4(CHD7):c.7503C>G (p.Ser2501=)
|
rs1805737676
|
|
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.1525-8T>C
|
|
|
NM_017934.7(PHIP):c.2201+2092G>A
|
rs1769538513
|
|
NM_017934.7(PHIP):c.2748G>C (p.Lys916Asn)
|
|
|
NM_017934.7(PHIP):c.3526A>T (p.Met1176Leu)
|
|
|
NM_018013.4(SOBP):c.2163C>A (p.Asn721Lys)
|
rs1770953615
|
|
NM_018023.5(YEATS2):c.1671G>C (p.Leu557Phe)
|
|
|
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.2089G>C (p.Glu697Gln)
|
|
|
NM_018026.4(PACS1):c.2305G>A (p.Asp769Asn)
|
rs751638632
|
|
NM_018100.4(EFHC1):c.21T>A (p.His7Gln)
|
rs775530837
|
|
NM_018105.3(THAP1):c.547G>T (p.Val183Phe)
|
rs370082539
|
|
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_018233.4(OGFOD1):c.1467+11_1467+13del
|
|
|
NM_018243.4(SEPTIN11):c.28-2A>G
|
|
|
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_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_018896.5(CACNA1G):c.5906T>C (p.Leu1969Pro)
|
rs1312607495
|
|
NM_018938.4(PCDHB4):c.915del (p.Lys305fs)
|
rs372292910
|
|
NM_019023.5(PRMT7):c.-218-3C>G
|
|
|
NM_019023.5(PRMT7):c.1651-8G>A
|
|
|
NM_019023.5(PRMT7):c.1652G>A (p.Arg551His)
|
|
|
NM_019023.5(PRMT7):c.2029G>A (p.Asp677Asn)
|
|
|
NM_019023.5(PRMT7):c.254C>A (p.Ala85Glu)
|
|
|
NM_019023.5(PRMT7):c.542A>G (p.Tyr181Cys)
|
|
|
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.2587C>A (p.Gln863Lys)
|
|
|
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)
|
|
|
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)
|
|
|
NM_019066.5(MAGEL2):c.992C>T (p.Pro331Leu)
|
|
|
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.314G>A (p.Arg105His)
|
rs1414360518
|
|
NM_020338.4(ZMIZ1):c.410C>A (p.Pro137His)
|
|
|
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.4015G>A (p.Gly1339Arg)
|
rs1461627612
|
|
NM_020719.3(PRR12):c.4544C>G (p.Pro1515Arg)
|
rs1263728584
|
|
NM_020738.4(KIDINS220):c.1022A>G (p.Lys341Arg)
|
|
|
NM_020738.4(KIDINS220):c.1462G>A (p.Gly488Arg)
|
|
|
NM_020738.4(KIDINS220):c.2593G>A (p.Val865Ile)
|
|
|
NM_020738.4(KIDINS220):c.346C>T (p.Arg116Cys)
|
|
|
NM_020738.4(KIDINS220):c.4550A>G (p.Gln1517Arg)
|
|
|
NM_020738.4(KIDINS220):c.4835C>A (p.Ala1612Glu)
|
|
|
NM_020738.4(KIDINS220):c.4850T>C (p.Leu1617Pro)
|
rs1664034594
|
|
NM_020738.4(KIDINS220):c.517C>T (p.Pro173Ser)
|
|
|
NM_020738.4(KIDINS220):c.560A>G (p.Lys187Arg)
|
|
|
NM_020759.3(STARD9):c.11233dup (p.Leu3745fs)
|
rs2060744498
|
|
NM_020759.3(STARD9):c.11959C>T (p.Gln3987Ter)
|
|
|
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_020822.3(KCNT1):c.3493A>G (p.Thr1165Ala)
|
rs549276113
|
|
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.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_020987.5(ANK3):c.11591A>G (p.Lys3864Arg)
|
|
|
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_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)
|
|
|
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.6122G>C (p.Gly2041Ala)
|
|
|
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_021912.5(GABRB3):c.11G>T (p.Gly4Val)
|
rs1356927141
|
|
NM_021956.5(GRIK2):c.1525A>C (p.Lys509Gln)
|
rs1786912135
|
|
NM_021969.3(NR0B2):c.211A>G (p.Arg71Gly)
|
|
|
NM_021969.3(NR0B2):c.497A>G (p.Tyr166Cys)
|
|
|
NM_021969.3(NR0B2):c.528C>A (p.Asn176Lys)
|
|
|
NM_021969.3(NR0B2):c.637C>T (p.Arg213Cys)
|
|
|
NM_021969.3(NR0B2):c.749T>C (p.Leu250Pro)
|
|
|
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_022114.4(PRDM16):c.2940-845G>A
|
|
|
NM_022165.3(LIN7B):c.156+8G>C
|
rs776700769
|
|
NM_022168.4(IFIH1):c.1756G>C (p.Glu586Gln)
|
|
|
NM_022168.4(IFIH1):c.52_262delinsCCTCTG (p.Phe18fs)
|
rs2105238244
|
|
NM_022436.3(ABCG5):c.1175A>C (p.Gln392Pro)
|
|
|
NM_022436.3(ABCG5):c.1210G>A (p.Val404Ile)
|
|
|
NM_022436.3(ABCG5):c.1250A>G (p.Gln417Arg)
|
|
|
NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val)
|
|
|
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe)
|
rs72542426
|
|
NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr)
|
|
|
NM_022436.3(ABCG5):c.529C>G (p.Leu177Val)
|
|
|
NM_022437.3(ABCG8):c.1481T>C (p.Phe494Ser)
|
|
|
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu)
|
rs558635043
|
|
NM_022437.3(ABCG8):c.320C>T (p.Ser107Leu)
|
|
|
NM_022437.3(ABCG8):c.818G>A (p.Arg273His)
|
|
|
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.2062C>T (p.Arg688Cys)
|
rs1484795800
|
|
NM_022765.4(MICAL1):c.922G>T (p.Val308Leu)
|
|
|
NM_022773.4(LMF1):c.1184C>T (p.Thr395Ile)
|
|
|
NM_022773.4(LMF1):c.1392G>T (p.Trp464Cys)
|
|
|
NM_022773.4(LMF1):c.1432G>A (p.Asp478Asn)
|
|
|
NM_022773.4(LMF1):c.1530-1373C>G
|
|
|
NM_022773.4(LMF1):c.479C>T (p.Ser160Phe)
|
|
|
NM_022773.4(LMF1):c.512T>C (p.Phe171Ser)
|
|
|
NM_022773.4(LMF1):c.514+2452G>A
|
|
|
NM_022773.4(LMF1):c.57G>C (p.Lys19Asn)
|
|
|
NM_022773.4(LMF1):c.602C>T (p.Pro201Leu)
|
|
|
NM_022773.4(LMF1):c.683G>T (p.Gly228Val)
|
|
|
NM_022773.4(LMF1):c.718T>C (p.Phe240Leu)
|
|
|
NM_022773.4(LMF1):c.901G>A (p.Val301Ile)
|
|
|
NM_022817.3(PER2):c.1793A>G (p.Asn598Ser)
|
rs962808354
|
|
NM_022893.4(BCL11A):c.1117C>T (p.Pro373Ser)
|
rs1676309768
|
|
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_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu)
|
|
|
NM_024422.6(DSC2):c.743_748del (p.Tyr248_Thr249del)
|
rs776784065
|
|
NM_024496.4(IRF2BPL):c.1501G>A (p.Asp501Asn)
|
rs902619113
|
|
NM_024496.4(IRF2BPL):c.1553C>T (p.Pro518Leu)
|
rs1038195917
|
|
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.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_024649.5(BBS1):c.1339+163G>A
|
|
|
NM_024649.5(BBS1):c.299G>A (p.Arg100Gln)
|
|
|
NM_024665.7(TBL1XR1):c.40A>G (p.Arg14Gly)
|
rs1718965342
|
|
NM_024665.7(TBL1XR1):c.756G>T (p.Trp252Cys)
|
rs2108480249
|
|
NM_024685.4(BBS10):c.1220T>C (p.Ile407Thr)
|
|
|
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_024795.4(TM4SF20):c.510G>A (p.Trp170Ter)
|
|
|
NM_025103.4(IFT74):c.1343G>A (p.Arg448His)
|
|
|
NM_025103.4(IFT74):c.152G>A (p.Arg51His)
|
rs73436007
|
|
NM_025103.4(IFT74):c.587C>T (p.Ala196Val)
|
|
|
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.3251G>A (p.Arg1084Gln)
|
|
|
NM_025114.4(CEP290):c.4860_4866delinsA (p.Phe1620_Arg1622delinsLeu)
|
|
|
NM_025114.4(CEP290):c.6067A>C (p.Arg2023=)
|
rs764861728
|
|
NM_025114.4(CEP290):c.7156A>G (p.Lys2386Glu)
|
|
|
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)
|
|
|
NM_030632.3(ASXL3):c.2992G>A (p.Glu998Lys)
|
rs2145417570
|
|
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.163A>G (p.Ile55Val)
|
rs928863874
|
|
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)
|
|
|
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.1359C>G (p.Asn453Lys)
|
rs2133014344
|
|
NM_031407.7(HUWE1):c.12602A>C (p.Glu4201Ala)
|
rs2146826433
|
|
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.9514C>G (p.Leu3172Val)
|
rs2147253217
|
|
NM_031418.4(ANO3):c.702C>A (p.Cys234Ter)
|
rs886037882
|
|
NM_031418.4(ANO3):c.944G>A (p.Arg315His)
|
|
|
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.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_032656.4(DHX37):c.1288A>T (p.Ile430Phe)
|
rs772541446
|
|
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.5366A>C (p.His1789Pro)
|
rs974108053
|
|
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.460-15T>A
|
|
|
NM_033343.4(LHX4):c.464C>T (p.Ala155Val)
|
rs746041842
|
|
NM_033656.4(BRWD1):c.4745del (p.Arg1582fs)
|
rs2146463862
|
|
NM_052867.4(NALCN):c.2615A>C (p.Asn872Thr)
|
rs777974606
|
|
NM_052867.4(NALCN):c.3209A>G (p.Asn1070Ser)
|
rs1277065548
|
|
NM_052874.5(STX1B):c.262G>T (p.Val88Phe)
|
rs995045434
|
|
NM_052876.4(NACC1):c.1042A>G (p.Ile348Val)
|
rs749707137
|
|
NM_053025.4(MYLK):c.4549C>A (p.His1517Asn)
|
|
|
NM_057175.5(NAA15):c.1493T>G (p.Met498Arg)
|
rs2110957042
|
|
NM_057175.5(NAA15):c.55-2863G>C
|
rs2110888403
|
|
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)
|
|
|
NM_080425.4(GNAS):c.1798C>T (p.Arg600Cys)
|
|
|
NM_080425.4(GNAS):c.1873A>G (p.Ser625Gly)
|
rs2086410482
|
|
NM_080425.4(GNAS):c.1999A>G (p.Lys667Glu)
|
|
|
NM_080425.4(GNAS):c.707A>G (p.Asp236Gly)
|
|
|
NM_080425.4(GNAS):c.748G>A (p.Asp250Asn)
|
|
|
NM_080425.4(GNAS):c.787G>A (p.Ala263Thr)
|
|
|
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_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.6577A>G (p.Ile2193Val)
|
rs1368217611
|
|
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.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.6487A>T (p.Thr2163Ser)
|
rs16838998
|
|
NM_139058.3(ARX):c.659G>C (p.Gly220Ala)
|
rs2147323924
|
|
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)
|
|
|
NM_144596.4(TTC8):c.798+256T>C
|
|
|
NM_144666.3(DNHD1):c.6868G>A (p.Ala2290Thr)
|
rs1011943451
|
|
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_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_148959.4(HUS1B):c.112_128del (p.Ser38fs)
|
rs528790996
|
|
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
|
|
|
NM_152564.5(VPS13B):c.10514G>T (p.Arg3505Leu)
|
rs770999005
|
|
NM_152564.5(VPS13B):c.1595G>T (p.Arg532Leu)
|
|
|
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)
|
|
|
NM_152564.5(VPS13B):c.2522A>G (p.Lys841Arg)
|
rs1376390404
|
|
NM_152564.5(VPS13B):c.5220+20875C>A
|
|
|
NM_152564.5(VPS13B):c.5221-24871G>T
|
rs944094510
|
|
NM_152564.5(VPS13B):c.5520G>T (p.Lys1840Asn)
|
rs2133931905
|
|
NM_152564.5(VPS13B):c.6529C>T (p.Arg2177Cys)
|
rs756143690
|
|
NM_152564.5(VPS13B):c.7050+2243A>G
|
|
|
NM_152564.5(VPS13B):c.7334G>C (p.Cys2445Ser)
|
|
|
NM_152564.5(VPS13B):c.7941+6T>C
|
|
|
NM_152564.5(VPS13B):c.8254G>C (p.Glu2752Gln)
|
|
|
NM_152564.5(VPS13B):c.9607T>C (p.Cys3203Arg)
|
rs781004616
|
|
NM_152618.3(BBS12):c.1465G>A (p.Ala489Thr)
|
rs145489987
|
|
NM_152618.3(BBS12):c.241T>C (p.Tyr81His)
|
|
|
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.-779+181T>C
|
rs1792903463
|
|
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_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_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)
|
|
|
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.2074G>A (p.Val692Ile)
|
rs2095510300
|
|
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.357-3669G>A
|
|
|
NM_170784.3(MKKS):c.109T>C (p.Tyr37His)
|
|
|
NM_170784.3(MKKS):c.14A>C (p.Glu5Ala)
|
|
|
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)
|
|
|
NM_173560.4(RFX6):c.1709C>T (p.Pro570Leu)
|
|
|
NM_173560.4(RFX6):c.208G>A (p.Gly70Arg)
|
|
|
NM_173560.4(RFX6):c.389A>G (p.Glu130Gly)
|
|
|
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)
|
|
|
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.50-4589G>A
|
|
|
NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
|
|
|
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
|
|
|
NM_176824.3(BBS7):c.110T>C (p.Ile37Thr)
|
|
|
NM_176824.3(BBS7):c.1379C>T (p.Ser460Leu)
|
|
|
NM_176824.3(BBS7):c.1940A>G (p.His647Arg)
|
|
|
NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)
|
|
|
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.1425G>C (p.Glu475Asp)
|
|
|
NM_177972.3(TUB):c.293C>T (p.Ala98Val)
|
rs909748733
|
|
NM_177972.3(TUB):c.722A>G (p.Glu241Gly)
|
|
|
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_178161.3(PTF1A):c.673T>G (p.Leu225Val)
|
|
|
NM_178161.3(PTF1A):c.703_720del (p.Gly235_Gly240del)
|
|
|
NM_178161.3(PTF1A):c.8C>T (p.Ala3Val)
|
rs146089816
|
|
NM_178161.3(PTF1A):c.987A>G (p.Ter329Trp)
|
|
|
NM_178172.6(GPIHBP1):c.106G>C (p.Asp36His)
|
|
|
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.4345G>A (p.Ala1449Thr)
|
rs1161799259
|
|
NM_181840.1(KCNK18):c.721C>A (p.Gln241Lys)
|
rs1855123740
|
|
NM_182493.3(MYLK3):c.1663-5C>A
|
|
|
NM_182498.4(ZNF428):c.361C>A (p.Gln121Lys)
|
rs992390730
|
|
NM_182616.4(ARPIN):c.169-963_177del
|
rs1897164637
|
|
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_194454.3(KRIT1):c.386G>A (p.Cys129Tyr)
|
rs764760437
|
|
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_198252.3(GSN):c.1326-1036C>T
|
|
|
NM_198428.3(BBS9):c.1790-1091A>G
|
|
|
NM_198428.3(BBS9):c.2521+951G>T
|
|
|
NM_198428.3(BBS9):c.443-37371A>G
|
|
|
NM_198428.3(BBS9):c.794A>G (p.Glu265Gly)
|
|
|
NM_198428.3(BBS9):c.886+7A>G
|
|
|
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_198904.4(GABRG2):c.1153-8C>G
|
rs771660227
|
|
NM_198904.4(GABRG2):c.428G>A (p.Gly143Glu)
|
rs747372679
|
|
NM_198994.3(TGM6):c.1179G>A (p.Ala393=)
|
|
|
NM_203446.3(SYNJ1):c.765G>C (p.Leu255Phe)
|
rs750608040
|
|
NM_203447.4(DOCK8):c.1649G>C (p.Arg550Pro)
|
rs886063879
|
|
NM_205861.3(DHDDS):c.817G>T (p.Asp273Tyr)
|
rs182263884
|
|
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
|
|
Single allele
|
|
|
m.4284G>A
|
rs121434468
|
|