ClinVar Miner

List of variants reported by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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ClinVar version:
Total variants: 2235
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HGVS dbSNP gnomAD frequency
NM_000211.5(ITGB2):c.1062= (p.His354=) rs235330 0.99991
NM_016335.6(PRODH):c.1562= (p.Arg521=) rs450046 0.99713
NM_022336.4(EDAR):c.655+30T>C rs260630 0.90817
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_022336.4(EDAR):c.*42G>T rs7607563 0.86887
NM_016335.6(PRODH):c.1741C>T (p.Leu581=) rs372055 0.75175
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_022336.4(EDAR):c.1024+44C>T rs260639 0.71201
NM_022336.4(EDAR):c.731-99C>T rs260631 0.69088
NM_022893.4(BCL11A):c.386-24278G>A rs11886868 0.65121
NM_005013.2(NUCB2):c.-406C>G rs214088 0.62041
NM_005013.4(NUCB2):c.-166G>C rs214087 0.48104
NM_153700.2(STRC):c.179T>C (p.Phe60Ser) rs2729509 0.34286
NM_007294.4(BRCA1):c.671-248_671-246dup rs5820483 0.33157
NM_006620.3(HBS1L):c.-380A>C rs28384513 0.31338
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_007294.4(BRCA1):c.5152+66G>A rs3092994 0.30314
NM_005105.5(RBM8A):c.67+93A>T rs872786 0.29287
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_000211.5(ITGB2):c.994-47G>A rs2838725 0.24547
NM_007294.4(BRCA1):c.5074+65G>A rs8176235 0.23738
NM_000211.5(ITGB2):c.1101C>A (p.Val367=) rs2230529 0.23426
NM_007294.4(BRCA1):c.5074+284C>A rs11654396 0.23139
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000211.5(ITGB2):c.2248-127G>C rs235375 0.22047
NM_000211.5(ITGB2):c.819G>A (p.Gly273=) rs2230528 0.21986
NC_000006.12:g.135105435A>G rs4895441 0.21408
NM_000211.5(ITGB2):c.24G>T (p.Leu8=) rs11088969 0.20978
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_000211.5(ITGB2):c.500-11G>T rs55865320 0.16920
NM_001330227.2(NUCB2):c.-254A>G rs4757506 0.13527
NM_000211.5(ITGB2):c.742-13G>A rs5030670 0.12263
NM_000211.5(ITGB2):c.58+12G>A rs2280965 0.09186
NM_014208.3(DSPP):c.3681C>A (p.Asp1227Glu) rs959216315 0.04723
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_005105.5(RBM8A):c.-21G>A rs139428292 0.01871
NM_001145809.2(MYH14):c.3468-3C>T rs78192108 0.01724
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_000211.5(ITGB2):c.329-6C>T rs9983887 0.00876
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_002078.5(GOLGA4):c.6174A>T (p.Arg2058Ser) rs11924014 0.00763
NM_000534.5(PMS1):c.605G>A (p.Arg202Lys) rs2066459 0.00741
NM_001902.6(CTH):c.200C>T (p.Thr67Ile) rs28941785 0.00693
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919 0.00690
NM_001352663.1(NUCB2):c.-431G>A rs182903196 0.00688
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000043.6(FAS):c.183G>A (p.Lys61=) rs3218613 0.00606
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr) rs138036823 0.00577
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_001308330.2(STXBP5L):c.1135G>A (p.Val379Met) rs61996323 0.00545
NM_005105.5(RBM8A):c.67+32G>C rs201779890 0.00518
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_001082.5(CYP4F2):c.648-7C>A rs3093221 0.00504
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_025152.3(NUBPL):c.593A>C (p.Asn198Thr) rs11558436 0.00480
NM_000540.3(RYR1):c.5634G>C (p.Glu1878Asp) rs114203198 0.00479
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val) rs141441058 0.00470
NM_016335.6(PRODH):c.865T>A (p.Leu289Met) rs137852934 0.00464
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00459
NM_033027.4(CSRNP1):c.1432C>T (p.Leu478Phe) rs147162469 0.00447
NM_032608.7(MYO18B):c.7345C>T (p.Arg2449Trp) rs149103381 0.00446
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519 0.00440
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu) rs145980033 0.00420
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His) rs41548013 0.00404
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313 0.00375
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_001067.4(TOP2A):c.1737+5G>A rs140672916 0.00360
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_000900.5(MGP):c.157A>G (p.Lys53Glu) rs1801716 0.00329
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr) rs191837710 0.00322
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783 0.00320
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312 0.00311
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser) rs41271277 0.00309
NM_001145809.2(MYH14):c.1150G>T (p.Gly384Cys) rs119103280 0.00303
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_016953.4(PDE11A):c.919C>T (p.Arg307Ter) rs76308115 0.00292
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698 0.00260
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_002666.5(PLIN1):c.902C>T (p.Thr301Met) rs74407840 0.00243
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836 0.00234
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000534.5(PMS1):c.1609G>A (p.Glu537Lys) rs151325573 0.00212
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000526.5(KRT14):c.88C>T (p.Arg30Cys) rs201069984 0.00188
NM_001017922.2(ERMAP):c.169G>A (p.Gly57Arg) rs56025238 0.00181
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_000293.3(PHKB):c.574A>G (p.Ile192Val) rs117218785 0.00165
NM_021176.3(G6PC2):c.847C>T (p.Arg283Ter) rs146779637 0.00162
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_018136.5(ASPM):c.9254T>C (p.Ile3085Thr) rs138138436 0.00155
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) rs142295786 0.00150
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys) rs104894299 0.00149
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00145
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_015571.4(SENP6):c.113A>G (p.His38Arg) rs34451237 0.00137
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) rs146370051 0.00135
NM_002354.3(EPCAM):c.831A>G (p.Ile277Met) rs115283528 0.00135
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294 0.00134
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00119
NM_019098.5(CNGB3):c.1208G>A (p.Arg403Gln) rs147876778 0.00119
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) rs6475 0.00117
NM_001276700.2(NLRP6):c.669G>C (p.Lys223Asn) rs141755467 0.00114
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_001286611.2(REPS1):c.2056C>T (p.Pro686Ser) rs144226246 0.00112
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001141.3(ALOX15B):c.1382G>A (p.Arg461Gln) rs140623478 0.00110
NM_005557.4(KRT16):c.539C>T (p.Ala180Val) rs142750223 0.00104
NM_020070.4(IGLL1):c.425C>T (p.Pro142Leu) rs1064422 0.00104
NM_018480.7(TMEM126B):c.635G>T (p.Gly212Val) rs141542003 0.00103
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg) rs768071555 0.00090
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_000276.4(OCRL):c.40-5C>T rs201211377 0.00088
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs) rs1290125655 0.00082
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter) rs201587138 0.00069
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del) rs750958357 0.00065
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_001286611.2(REPS1):c.1927G>A (p.Asp643Asn) rs140387177 0.00063
NM_000543.5(SMPD1):c.340G>A (p.Val114Met) rs142215226 0.00061
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_001130144.3(LTBP3):c.989C>T (p.Pro330Leu) rs28403592 0.00056
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) rs141242566 0.00056
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys) rs61732144 0.00055
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile) rs144722432 0.00053
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_015335.5(MED13L):c.1910G>A (p.Arg637His) rs146499452 0.00052
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_000047.3(ARSL):c.1189G>A (p.Gly397Arg) rs201424543 0.00049
NM_012123.4(MTO1):c.1129+246G>A rs118010902 0.00049
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_000085.5(CLCNKB):c.656-31del rs751608665 0.00046
NM_001388464.1(H2BW2):c.257T>C (p.Ile86Thr) rs782616912 0.00046
NM_019109.5(ALG1):c.827G>A (p.Arg276Gln) rs201975029 0.00045
NM_001378183.1(PIEZO2):c.5080G>A (p.Asp1694Asn) rs114649884 0.00044
NM_001382567.1(STIM1):c.2021G>A (p.Arg674His) rs140080199 0.00044
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) rs200203979 0.00043
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_182914.3(SYNE2):c.14528T>A (p.Phe4843Tyr) rs141488398 0.00042
NM_144639.3(UROC1):c.854G>A (p.Trp285Ter) rs202232611 0.00041
NM_153700.2(STRC):c.3460C>T (p.Arg1154Ter) rs576724182 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_033380.3(COL4A5):c.2510-33A>G rs104886358 0.00039
NM_001377265.1(MAPT):c.889C>A (p.Arg297Ser) rs150983093 0.00038
NM_002213.5(ITGB5):c.721C>T (p.Arg241Trp) rs201926531 0.00038
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe) rs147446660 0.00038
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His) rs767529359 0.00038
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu) rs201724032 0.00036
NM_003038.5(SLC1A4):c.1316G>A (p.Gly439Glu) rs144796570 0.00036
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_178857.6(RP1L1):c.4004_4005insT (p.Val1336fs) rs781490139 0.00036
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266 0.00034
NM_000327.4(ROM1):c.339dup (p.Leu114fs) rs71458427 0.00033
NM_001267550.2(TTN):c.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_005573.4(LMNB1):c.676C>T (p.Arg226Cys) rs142016804 0.00032
NM_005932.4(MIPEP):c.1670T>C (p.Met557Thr) rs139684349 0.00031
NM_000492.4(CFTR):c.2988+1G>A rs75096551 0.00030
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
NM_000137.4(FAH):c.1062+5G>A rs80338901 0.00028
NM_001170535.3(ATAD3A):c.1693C>T (p.His565Tyr) rs200344678 0.00027
NM_000540.3(RYR1):c.2383C>T (p.Arg795Cys) rs547608972 0.00026
NM_005198.5(CHKB):c.38C>T (p.Ala13Val) rs779585255 0.00026
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter) rs200390529 0.00025
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala) rs200278015 0.00025
NM_001089.3(ABCA3):c.1891G>A (p.Ala631Thr) rs139738862 0.00024
NM_001161403.3(LIMS2):c.233C>A (p.Ser78Tyr) rs181892289 0.00024
NM_020944.3(GBA2):c.786+9C>A rs374309697 0.00023
NM_022915.5(MRPL44):c.313C>T (p.Arg105Cys) rs144037629 0.00023
NM_020717.5(SHROOM4):c.436C>T (p.Arg146Trp) rs189694750 0.00022
NM_024011.4(CDK11A):c.740G>A (p.Arg247Gln) rs1266756785 0.00022
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu) rs568280615 0.00021
NM_001171.6(ABCC6):c.2247+22T>G rs72664298 0.00021
NM_002296.4(LBR):c.1114C>T (p.Arg372Cys) rs200180113 0.00021
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln) rs199783239 0.00021
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948 0.00021
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) rs201299366 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_015192.4(PLCB1):c.3337-69G>A rs45541432 0.00021
NM_020949.3(SLC7A14):c.1246C>T (p.Leu416Phe) rs753129566 0.00021
NM_198428.3(BBS9):c.1559C>T (p.Pro520Leu) rs769669385 0.00021
NM_199242.3(UNC13D):c.118-308C>T rs959968589 0.00021
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu) rs28941773 0.00020
NM_001370466.1(NOD2):c.2251G>A (p.Glu751Lys) rs104895443 0.00020
NM_001692.4(ATP6V1B1):c.341G>A (p.Arg114Gln) rs200269431 0.00020
NM_014043.4(CHMP2B):c.85A>G (p.Ile29Val) rs63750818 0.00020
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369 0.00019
NM_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000338.3(SLC12A1):c.724+547C>T rs377680472 0.00019
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096 0.00019
NM_000690.4(ALDH2):c.802C>T (p.Arg268Cys) rs201835306 0.00019
NM_001140.5(ALOX15):c.305G>T (p.Gly102Val) rs41439950 0.00019
NM_001193313.2(SUGCT):c.301C>T (p.Arg101Ter) rs137852862 0.00019
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile) rs143877538 0.00019
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu) rs191568463 0.00019
NM_001620.3(AHNAK):c.10589A>G (p.Lys3530Arg) rs143895650 0.00018
NM_015909.4(NBAS):c.2012T>G (p.Phe671Cys) rs143212851 0.00017
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_001080414.4(CCDC88C):c.2402G>A (p.Arg801Gln) rs372168003 0.00016
NM_004562.3(PRKN):c.719C>T (p.Thr240Met) rs137853054 0.00016
NM_006005.3(WFS1):c.2020G>A (p.Gly674Arg) rs200672755 0.00016
NM_014813.3(LRIG2):c.1696C>T (p.His566Tyr) rs201013312 0.00016
NM_152490.5(B3GALNT2):c.169G>A (p.Val57Met) rs142756842 0.00016
NM_000083.3(CLCN1):c.139C>T (p.Arg47Trp) rs185031797 0.00015
NM_000348.4(SRD5A2):c.586G>A (p.Gly196Ser) rs121434250 0.00015
NM_001127222.2(CACNA1A):c.5987C>T (p.Thr1996Met) rs778274864 0.00015
NM_000419.5(ITGA2B):c.457G>A (p.Ala153Thr) rs199641871 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_001366977.1(PNCK):c.229G>A (p.Glu77Lys) rs782100269 0.00014
NM_003119.4(SPG7):c.233T>A (p.Leu78Ter) rs121918358 0.00014
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg) rs121434274 0.00013
NM_000540.3(RYR1):c.2654G>A (p.Arg885His) rs370634440 0.00013
NM_000747.3(CHRNB1):c.167T>C (p.Val56Ala) rs759668768 0.00013
NM_001283009.2(RTEL1):c.208C>T (p.Arg70Cys) rs778775766 0.00013
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp) rs779079128 0.00013
NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys) rs150645913 0.00013
NM_014845.6(FIG4):c.205C>T (p.Arg69Cys) rs540674198 0.00013
NM_020944.3(GBA2):c.1495G>A (p.Glu499Lys) rs35818148 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_003124.5(SPR):c.628C>T (p.Arg210Trp) rs200845457 0.00012
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_005876.5(SPEG):c.7262C>T (p.Pro2421Leu) rs376076241 0.00012
NM_000231.3(SGCG):c.653T>C (p.Ile218Thr) rs202045534 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) rs587782989 0.00011
NM_001286577.2(C2CD3):c.6968G>A (p.Arg2323His) rs958229850 0.00011
NM_002139.4(RBMX):c.389-8T>C rs181515589 0.00011
NM_002547.3(OPHN1):c.2168A>G (p.Asp723Gly) rs374431961 0.00011
NM_004044.7(ATIC):c.1751A>G (p.His584Arg) rs201429123 0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242 0.00011
NM_017825.3(ADPRS):c.1004T>G (p.Val335Gly) rs201735454 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_022168.4(IFIH1):c.1793G>A (p.Arg598His) rs200945986 0.00011
NM_030928.4(CDT1):c.1357C>T (p.Arg453Trp) rs200672589 0.00011
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929 0.00011
NM_153676.4(USH1C):c.2419G>A (p.Gly807Ser) rs142652588 0.00011
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928 0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met) rs758236584 0.00010
NM_000080.4(CHRNE):c.506A>T (p.Gln169Leu) rs148370803 0.00010
NM_000089.4(COL1A2):c.2717G>A (p.Arg906His) rs147063981 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_001231.5(CASQ1):c.1018G>A (p.Asp340Asn) rs749145120 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001378183.1(PIEZO2):c.4799G>A (p.Arg1600Gln) rs374051556 0.00010
NM_001620.3(AHNAK):c.1094G>T (p.Gly365Val) rs201078275 0.00010
NM_001853.4(COL9A3):c.1987G>A (p.Asp663Asn) rs149805455 0.00010
NM_002472.3(MYH8):c.977T>C (p.Ile326Thr) rs34124921 0.00010
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln) rs201234013 0.00010
NM_005529.7(HSPG2):c.11018T>C (p.Phe3673Ser) rs147707402 0.00010
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_016111.4(TELO2):c.2296G>A (p.Val766Met) rs371675497 0.00010
NM_016327.3(UPB1):c.105-2A>G rs138081800 0.00010
NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln) rs545959971 0.00010
NM_024919.6(FRMD1):c.508G>A (p.Val170Met) rs199740559 0.00010
NM_173602.3(DIP2B):c.4483G>A (p.Val1495Met) rs749017384 0.00010
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109 0.00009
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp) rs121909011 0.00009
NM_000518.5(HBB):c.93-21G>A rs35004220 0.00009
NM_000709.4(BCKDHA):c.943C>T (p.Arg315Trp) rs373336888 0.00009
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter) rs118203957 0.00009
NM_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln) rs538781815 0.00009
NM_001164508.2(NEB):c.24114+1G>A rs755239192 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 0.00009
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_001378778.1(MPDZ):c.1894C>T (p.Arg632Cys) rs755060398 0.00009
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro) rs146256515 0.00009
NM_002693.3(POLG):c.460G>A (p.Ala154Thr) rs753858440 0.00009
NM_006182.4(DDR2):c.508A>T (p.Thr170Ser) rs201573606 0.00009
NM_144670.6(A2ML1):c.2677C>T (p.Arg893Ter) rs199651558 0.00009
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys) rs121909448 0.00009
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp) rs199906865 0.00009
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His) rs56010818 0.00008
NM_001163435.3(TBCK):c.1804G>A (p.Ala602Thr) rs150221832 0.00008
NM_001171613.2(PREPL):c.1520C>A (p.Thr507Lys) rs773867044 0.00008
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 0.00008
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00008
NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp) rs564438778 0.00008
NM_078470.6(COX15):c.532C>T (p.Arg178Cys) rs192078749 0.00008
NM_000211.5(ITGB2):c.381C>T (p.Ile127=) rs483352812 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_001128840.3(CACNA1D):c.5837G>A (p.Arg1946His) rs150366975 0.00007
NM_001378778.1(MPDZ):c.2401G>T (p.Asp801Tyr) rs758473798 0.00007
NM_003000.3(SDHB):c.178A>G (p.Thr60Ala) rs34599281 0.00007
NM_022124.6(CDH23):c.5653C>T (p.Arg1885Cys) rs368848049 0.00007
NM_173658.4(ZNF660):c.721C>T (p.Arg241Cys) rs587776368 0.00007
NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile) rs373820739 0.00007
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000400.4(ERCC2):c.587G>A (p.Arg196Gln) rs753293260 0.00006
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys) rs72555360 0.00006
NM_000492.4(CFTR):c.2657+5G>A rs80224560 0.00006
NM_000494.4(COL17A1):c.25C>T (p.Arg9Ter) rs775196743 0.00006
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln) rs41464951 0.00006
NM_000785.4(CYP27B1):c.1375C>T (p.Arg459Cys) rs555068245 0.00006
NM_000789.4(ACE):c.2858G>A (p.Arg953Gln) rs143507892 0.00006
NM_001038.6(SCNN1A):c.385G>A (p.Ala129Thr) rs141756749 0.00006
NM_001040092.3(ENPP2):c.2395C>T (p.Arg799Trp) rs370024218 0.00006
NM_001077525.3(MTMR14):c.1144C>T (p.Arg382Trp) rs757251437 0.00006
NM_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr) rs201318038 0.00006
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys) rs755994602 0.00006
NM_001159773.2(CANT1):c.1112C>T (p.Ala371Val) rs372631124 0.00006
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904 0.00006
NM_001163809.2(WDR81):c.5314C>T (p.Pro1772Ser) rs144021458 0.00006
NM_001174150.2(ARL13B):c.1073G>A (p.Arg358Gln) rs369942016 0.00006
NM_001371727.1(GABRB2):c.1061G>A (p.Arg354His) rs371217448 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001414.4(EIF2B1):c.389A>G (p.Tyr130Cys) rs754044114 0.00006
NM_001723.7(DST):c.7432C>T (p.Arg2478Ter) rs767292450 0.00006
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 0.00006
NM_002103.5(GYS1):c.162_163del (p.Asp56fs) rs587777375 0.00006
NM_002206.3(ITGA7):c.427C>T (p.Arg143Ter) rs17854600 0.00006
NM_002427.4(MMP13):c.1415_1416del (p.Ter472CysextTer?) rs781838470 0.00006
NM_002451.4(MTAP):c.572C>T (p.Ala191Val) rs200708704 0.00006
NM_002496.4(NDUFS8):c.598G>A (p.Ala200Thr) rs578145610 0.00006
NM_002663.5(PLD2):c.2447G>A (p.Arg816Gln) rs774247595 0.00006
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680 0.00006
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter) rs202069201 0.00006
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys) rs756541797 0.00006
NM_004369.4(COL6A3):c.6898G>A (p.Gly2300Arg) rs763348222 0.00006
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269 0.00006
NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys) rs779315883 0.00006
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010 0.00006
NM_015102.5(NPHP4):c.2939C>T (p.Thr980Met) rs199645515 0.00006
NM_016615.5(SLC6A13):c.1424G>A (p.Arg475His) rs139777154 0.00006
NM_017882.3(CLN6):c.297+113G>C rs553192210 0.00006
NM_018006.5(TRMU):c.1154G>A (p.Arg385Gln) rs373471059 0.00006
NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu) rs753355529 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_152722.5(HEPACAM):c.128T>A (p.Ile43Asn) rs781030435 0.00006
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter) rs148182439 0.00006
NM_153676.4(USH1C):c.308G>A (p.Arg103His) rs397514500 0.00006
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741 0.00006
NM_198525.3(KIF7):c.2425C>T (p.Arg809Trp) rs367734857 0.00006
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) rs148337492 0.00006
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met) rs368594655 0.00005
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796 0.00005
NM_001080478.3(LRRC14B):c.1189G>A (p.Gly397Arg) rs199834750 0.00005
NM_001126128.2(PROK2):c.217C>T (p.Arg73Cys) rs121434272 0.00005
NM_001135998.3(NDUFB11):c.359G>A (p.Arg120His) rs782753177 0.00005
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His) rs565304206 0.00005
NM_001267550.2(TTN):c.1800+1G>A rs397517497 0.00005
NM_001365536.1(SCN9A):c.1135A>G (p.Met379Val) rs544004654 0.00005
NM_001844.5(COL2A1):c.4148C>T (p.Thr1383Met) rs138498898 0.00005
NM_001844.5(COL2A1):c.4316C>T (p.Thr1439Met) rs121912886 0.00005
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_004168.4(SDHA):c.1462G>A (p.Ala488Thr) rs369100772 0.00005
NM_004370.6(COL12A1):c.793C>T (p.Arg265Cys) rs749760185 0.00005
NM_004563.4(PCK2):c.577C>T (p.Arg193Ter) rs753706965 0.00005
NM_004958.4(MTOR):c.743C>T (p.Thr248Ile) rs377679898 0.00005
NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter) rs781767219 0.00005
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln) rs104895051 0.00005
NM_013444.4(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678 0.00005
NM_015346.4(ZFYVE26):c.4402G>A (p.Val1468Met) rs148925506 0.00005
NM_015443.4(KANSL1):c.889C>T (p.Arg297Cys) rs772236084 0.00005
NM_016239.4(MYO15A):c.5925G>A (p.Trp1975Ter) rs375290498 0.00005
NM_017534.6(MYH2):c.3821G>A (p.Arg1274Gln) rs756811670 0.00005
NM_020717.5(SHROOM4):c.3071T>C (p.Leu1024Pro) rs1557249087 0.00005
NM_020928.2(ZSWIM6):c.2881A>G (p.Ser961Gly) rs745988643 0.00005
NM_020964.3(EPG5):c.2373C>T (p.Asp791=) rs552419530 0.00005
NM_032608.7(MYO18B):c.4058G>A (p.Arg1353His) rs532777099 0.00005
NM_032833.5(PPP1R15B):c.25C>G (p.Arg9Gly) rs759915160 0.00005
NM_170707.4(LMNA):c.329G>A (p.Arg110His) rs556237236 0.00005
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000094.4(COL7A1):c.6473G>A (p.Arg2158His) rs138626345 0.00004
NM_000211.5(ITGB2):c.897+1G>A rs201752283 0.00004
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg) rs750628677 0.00004
NM_000310.4(PPT1):c.535C>T (p.Arg179Cys) rs560471003 0.00004
NM_000327.4(ROM1):c.859C>T (p.Arg287Trp) rs768652143 0.00004
NM_000400.4(ERCC2):c.466C>T (p.Arg156Ter) rs151235136 0.00004
NM_000441.2(SLC26A4):c.1263+1841G>A rs771059036 0.00004
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu) rs397508442 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000751.3(CHRND):c.988G>A (p.Val330Met) rs773972915 0.00004
NM_001024630.4(RUNX2):c.1379C>T (p.Pro460Leu) rs768473049 0.00004
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu) rs751657066 0.00004
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg) rs74315438 0.00004
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_001171.6(ABCC6):c.790C>T (p.Arg264Trp) rs376409933 0.00004
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp) rs778224699 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 0.00004
NM_001358263.1(HK1):c.4G>A (p.Gly2Arg) rs766565453 0.00004
NM_001360.3(DHCR7):c.1A>G (p.Met1Val) rs104886033 0.00004
NM_001374385.1(ATP8B1):c.530C>T (p.Thr177Met) rs369011228 0.00004
NM_001374675.1(HSF4):c.426_443dup (p.Ala145_Gln150dup) rs760351849 0.00004
NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter) rs745308973 0.00004
NM_001673.5(ASNS):c.146G>A (p.Arg49Gln) rs769236847 0.00004
NM_001848.3(COL6A1):c.1945G>A (p.Glu649Lys) rs764129993 0.00004
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001918.5(DBT):c.75_76del (p.Cys26fs) rs768832921 0.00004
NM_001982.4(ERBB3):c.2241G>C (p.Lys747Asn) rs760414488 0.00004
NM_002454.3(MTRR):c.1165G>A (p.Val389Met) rs774333382 0.00004
NM_002561.4(P2RX5):c.904C>T (p.Arg302Ter) rs140129051 0.00004
NM_002693.3(POLG):c.911T>G (p.Leu304Arg) rs121918044 0.00004
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met) rs72552732 0.00004
NM_003602.5(FKBP6):c.101G>A (p.Gly34Glu) rs782285165 0.00004
NM_004278.4(PIGL):c.263G>A (p.Arg88His) rs755380500 0.00004
NM_004369.4(COL6A3):c.4121A>T (p.Asp1374Val) rs766488017 0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met) rs969369250 0.00004
NM_005076.5(CNTN2):c.1075C>A (p.Arg359Ser) rs371816961 0.00004
NM_005518.4(HMGCS2):c.181_182insCCAATATGGCCCTGGAGGCCAA (p.Val61fs) rs1553241079 0.00004
NM_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn) rs780545355 0.00004
NM_005891.3(ACAT2):c.526G>A (p.Glu176Lys) rs371307389 0.00004
NM_006329.4(FBLN5):c.1087G>A (p.Ala363Thr) rs121434302 0.00004
NM_007103.4(NDUFV1):c.670C>T (p.Arg224Cys) rs138583785 0.00004
NM_007118.4(TRIO):c.2276C>T (p.Thr759Met) rs201514384 0.00004
NM_007325.5(GRIA3):c.813G>C (p.Gln271His) rs756316953 0.00004
NM_014251.3(SLC25A13):c.1267G>A (p.Asp423Asn) rs553863381 0.00004
NM_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 0.00004
NM_015488.5(PNKD):c.237-16374C>T rs201323830 0.00004
NM_015721.3(GEMIN4):c.3094C>T (p.Gln1032Ter) rs574891003 0.00004
NM_016580.4(PCDH12):c.2734C>T (p.Arg912Trp) rs574087581 0.00004
NM_017415.3(KLHL3):c.1694C>T (p.Thr565Met) rs375871642 0.00004
NM_017636.4(TRPM4):c.1150+1G>A rs200132598 0.00004
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) rs1422686570 0.00004
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336 0.00004
NM_020822.3(KCNT1):c.3059G>A (p.Arg1020His) rs373365707 0.00004
NM_033087.4(ALG2):c.319G>A (p.Glu107Lys) rs1156439417 0.00004
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp) rs376128990 0.00004
NM_177924.5(ASAH1):c.125C>T (p.Thr42Met) rs145873635 0.00004
NM_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp) rs769080151 0.00003
NM_000094.4(COL7A1):c.682+1G>A rs775288140 0.00003
NM_000147.5(FUCA1):c.923G>A (p.Arg308His) rs372537257 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter) rs386833517 0.00003
NM_000268.4(NF2):c.1231C>T (p.Arg411Cys) rs773296925 0.00003
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388 0.00003
NM_000365.6(TPI1):c.617G>A (p.Arg206His) rs782417309 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000387.6(SLC25A20):c.425C>G (p.Ala142Gly) rs759262977 0.00003
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_000484.4(APP):c.2125G>A (p.Gly709Ser) rs201269325 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 0.00003
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter) rs121908805 0.00003
NM_000518.5(HBB):c.315+1G>A rs33945777 0.00003
NM_000836.4(GRIN2D):c.2308G>A (p.Asp770Asn) rs775962298 0.00003
NM_001008212.2(OPTN):c.275A>T (p.Glu92Val) rs202044898 0.00003
NM_001010867.4(IBA57):c.305T>G (p.Val102Gly) rs759005478 0.00003
NM_001044.5(SLC6A3):c.1067C>T (p.Thr356Met) rs577802449 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_001110556.2(FLNA):c.20G>C (p.Arg7Pro) rs781814342 0.00003
NM_001110792.2(MECP2):c.414-3C>T rs267608465 0.00003
NM_001114748.2(TMEM240):c.343G>A (p.Val115Met) rs1045410944 0.00003
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 0.00003
NM_001171613.2(PREPL):c.1420G>A (p.Val474Met) rs780954540 0.00003
NM_001174089.2(SLC4A11):c.2062G>A (p.Ala688Thr) rs748362724 0.00003
NM_001193313.2(SUGCT):c.1090-65315C>T rs201987458 0.00003
NM_001303052.2(MYT1L):c.2443G>A (p.Asp815Asn) rs773930139 0.00003
NM_001348768.2(HECW2):c.-35-1G>A rs755596278 0.00003
NM_001349206.2(LPIN1):c.2365C>A (p.Leu789Met) rs542760055 0.00003
NM_001363711.2(DUOX2):c.513+1G>C rs752635135 0.00003
NM_001371986.1(UNC80):c.9448C>T (p.Arg3150Cys) rs868379708 0.00003
NM_001378183.1(PIEZO2):c.4148C>T (p.Thr1383Met) rs777349822 0.00003
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_001378778.1(MPDZ):c.3741+6C>T rs368808895 0.00003
NM_001379500.1(COL18A1):c.107-11479C>A rs764709181 0.00003
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) rs201629827 0.00003
NM_001382567.1(STIM1):c.1634+2159A>T rs772759124 0.00003
NM_001609.4(ACADSB):c.1128+3A>T rs760423996 0.00003
NM_001985.3(ETFB):c.598A>G (p.Lys200Glu) rs920672041 0.00003
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser) rs752201545 0.00003
NM_002291.3(LAMB1):c.4133T>A (p.Leu1378His) rs769712243 0.00003
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp) rs754920304 0.00003
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter) rs398124119 0.00003
NM_004370.6(COL12A1):c.1760T>C (p.Ile587Thr) rs1235556906 0.00003
NM_004370.6(COL12A1):c.7869C>A (p.Asn2623Lys) rs201337277 0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706 0.00003
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys) rs766896575 0.00003
NM_005879.3(TRAIP):c.1306C>T (p.Arg436Cys) rs536675100 0.00003
NM_006019.4(TCIRG1):c.1052G>A (p.Arg351His) rs758621844 0.00003
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr) rs777123332 0.00003
NM_013296.5(GPSM2):c.124G>A (p.Ala42Thr) rs780911321 0.00003
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) rs1211858750 0.00003
NM_014813.3(LRIG2):c.256C>T (p.Arg86Trp) rs554758747 0.00003
NM_014846.4(WASHC5):c.2327G>A (p.Arg776His) rs750463169 0.00003
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys) rs371984550 0.00003
NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter) rs761865592 0.00003
NM_016356.5(DCDC2):c.769C>T (p.Arg257Cys) rs909339162 0.00003
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln) rs267602452 0.00003
NM_017654.4(SAMD9):c.3381C>A (p.Tyr1127Ter) rs572380130 0.00003
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser) rs764571295 0.00003
NM_018489.3(ASH1L):c.2333G>A (p.Arg778Gln) rs373475579 0.00003
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321 0.00003
NM_020549.5(CHAT):c.620G>A (p.Arg207His) rs764497513 0.00003
NM_020738.4(KIDINS220):c.299G>A (p.Arg100His) rs368435770 0.00003
NM_020987.5(ANK3):c.4723C>T (p.Arg1575Trp) rs565896400 0.00003
NM_022124.6(CDH23):c.2915C>T (p.Thr972Met) rs762772276 0.00003
NM_022716.4(PRRX1):c.343C>T (p.Arg115Trp) rs756620309 0.00003
NM_024027.5(COLEC11):c.433G>A (p.Gly145Ser) rs748736842 0.00003
NM_025114.4(CEP290):c.5344C>T (p.Arg1782Ter) rs575767207 0.00003
NM_030665.4(RAI1):c.1787G>A (p.Arg596Gln) rs200001615 0.00003
NM_032043.3(BRIP1):c.1972C>T (p.Arg658Trp) rs786203170 0.00003
NM_032634.4(PIGO):c.2431C>T (p.Arg811Trp) rs140470862 0.00003
NM_032806.6(POMGNT2):c.238C>T (p.Arg80Cys) rs780388475 0.00003
NM_033266.4(ERN2):c.2602C>T (p.Arg868Ter) rs755206735 0.00003
NM_033629.6(TREX1):c.-26-1G>A rs749323787 0.00003
NM_052859.4(RFT1):c.778G>A (p.Glu260Lys) rs766766673 0.00003
NM_138691.3(TMC1):c.236+1G>A rs775428246 0.00003
NM_145207.3(AFG2A):c.2456T>C (p.Val819Ala) rs149604630 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_176824.3(BBS7):c.125G>A (p.Gly42Glu) rs1221499782 0.00003
NM_181882.3(PRX):c.4318G>A (p.Val1440Met) rs138437458 0.00003
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met) rs760970028 0.00003
NM_198129.4(LAMA3):c.4558G>T (p.Ala1520Ser) rs763626668 0.00003
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn) rs769301934 0.00003
NM_198994.3(TGM6):c.674T>G (p.Val225Gly) rs1461093480 0.00003
NM_201384.3(PLEC):c.5549C>T (p.Thr1850Met) rs534267486 0.00003
NM_207391.3(RGS9BP):c.365C>G (p.Ser122Cys) rs749927570 0.00003
NM_000038.6(APC):c.3437G>A (p.Arg1146His) rs763486328 0.00002
NM_000044.6(AR):c.1513C>A (p.Pro505Thr) rs764238988 0.00002
NM_000137.4(FAH):c.709C>T (p.Arg237Ter) rs769550316 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000298.6(PKLR):c.331G>A (p.Gly111Arg) rs918627824 0.00002
NM_000396.4(CTSK):c.578G>A (p.Arg193Gln) rs781168584 0.00002
NM_000414.4(HSD17B4):c.1213C>T (p.Leu405Phe) rs746616691 0.00002
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) rs121907955 0.00002
NM_000520.6(HEXA):c.571-1G>T rs185429231 0.00002
NM_000531.6(OTC):c.76C>T (p.Arg26Trp) rs1057515879 0.00002
NM_000532.5(PCCB):c.889C>T (p.Arg297Cys) rs549397464 0.00002
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_000540.3(RYR1):c.5920C>T (p.Arg1974Trp) rs779733902 0.00002
NM_000540.3(RYR1):c.6743G>A (p.Arg2248His) rs140152019 0.00002
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp) rs1057518970 0.00002
NM_000666.3(ACY1):c.699A>C (p.Glu233Asp) rs121912699 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158 0.00002
NM_001033855.3(DCLRE1C):c.350C>T (p.Pro117Leu) rs757316102 0.00002
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter) rs750355652 0.00002
NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg) rs766502252 0.00002
NM_001055.4(SULT1A1):c.214C>T (p.Arg72Ter) rs141343888 0.00002
NM_001077418.3(TMEM231):c.232G>T (p.Asp78Tyr) rs753709447 0.00002
NM_001080432.3(FTO):c.263A>G (p.Lys88Arg) rs1410999299 0.00002
NM_001101362.3(KBTBD13):c.543C>G (p.Asp181Glu) rs760224608 0.00002
NM_001160305.4(SETD6):c.355C>T (p.Gln119Ter) rs771760548 0.00002
NM_001164508.2(NEB):c.9125G>A (p.Cys3042Tyr) rs779603526 0.00002
NM_001199753.2(CPT1C):c.899G>A (p.Arg300His) rs753309074 0.00002
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 0.00002
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys) rs761386688 0.00002
NM_001349338.3(FOXP1):c.181-17916C>T rs1257120372 0.00002
NM_001378183.1(PIEZO2):c.7483C>T (p.Arg2495Trp) rs757200280 0.00002
NM_001378615.1(CC2D2A):c.100C>T (p.Arg34Ter) rs896947430 0.00002
NM_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077 0.00002
NM_001845.6(COL4A1):c.1807C>T (p.Pro603Ser) rs747585517 0.00002
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe) rs760483684 0.00002
NM_002386.4(MC1R):c.496dup (p.Ala166fs) rs780875127 0.00002
NM_002693.3(POLG):c.1615_1623del (p.Phe539_Gln541del) rs754586219 0.00002
NM_002693.3(POLG):c.3076C>T (p.Arg1026Cys) rs760043525 0.00002
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) rs764274123 0.00002
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln) rs386134210 0.00002
NM_003482.4(KMT2D):c.5549G>A (p.Gly1850Asp) rs778359468 0.00002
NM_004044.7(ATIC):c.548C>A (p.Ala183Glu) rs761526509 0.00002
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865 0.00002
NM_004646.4(NPHS1):c.319G>A (p.Ala107Thr) rs386833933 0.00002
NM_005120.3(MED12):c.6267+166G>A rs1247198443 0.00002
NM_005559.4(LAMA1):c.3052C>G (p.Pro1018Ala) rs750460729 0.00002
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp) rs759260599 0.00002
NM_005660.3(SLC35A2):c.485G>A (p.Arg162His) rs782305321 0.00002
NM_005677.4(COLQ):c.484G>T (p.Gly162Cys) rs376385207 0.00002
NM_005915.6(MCM6):c.1654A>G (p.Ile552Val) rs776037433 0.00002
NM_005932.4(MIPEP):c.1679G>A (p.Arg560His) rs753252850 0.00002
NM_005957.5(MTHFR):c.1163G>A (p.Arg388His) rs769953411 0.00002
NM_005993.5(TBCD):c.3126G>A (p.Pro1042=) rs369672739 0.00002
NM_006019.4(TCIRG1):c.1087C>T (p.Arg363Cys) rs375809635 0.00002
NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile) rs199732997 0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His) rs201138924 0.00002
NM_007194.4(CHEK2):c.1462-20T>C rs747767986 0.00002
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805 0.00002
NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) rs563130304 0.00002
NM_012216.4(MID2):c.491G>A (p.Arg164His) rs778859599 0.00002
NM_012431.3(SEMA3E):c.2143C>A (p.Gln715Lys) rs538244011 0.00002
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) rs773574448 0.00002
NM_013246.3(CLCF1):c.163C>T (p.Arg55Cys) rs560558450 0.00002
NM_014049.5(ACAD9):c.452A>G (p.Lys151Arg) rs774429198 0.00002
NM_014874.4(MFN2):c.334G>A (p.Val112Met) rs757937208 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp) rs267598016 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015338.6(ASXL1):c.1910C>G (p.Ala637Gly) rs769053835 0.00002
NM_015443.4(KANSL1):c.112G>A (p.Gly38Ser) rs770738115 0.00002
NM_015559.3(SETBP1):c.3055C>T (p.Arg1019Cys) rs767260608 0.00002
NM_015559.3(SETBP1):c.665G>C (p.Trp222Ser) rs761385178 0.00002
NM_017570.5(OPLAH):c.2230C>T (p.Arg744Cys) rs371837669 0.00002
NM_018706.7(DHTKD1):c.1792C>T (p.Arg598Cys) rs375292909 0.00002
NM_018834.6(MATR3):c.2038G>A (p.Asp680Asn) rs752161415 0.00002
NM_018896.5(CACNA1G):c.3167C>T (p.Thr1056Met) rs555798090 0.00002
NM_018896.5(CACNA1G):c.3200G>A (p.Arg1067His) rs369751310 0.00002
NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln) rs781240948 0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 0.00002
NM_020365.5(EIF2B3):c.1277T>C (p.Ile426Thr) rs762959486 0.00002
NM_020442.6(VARS2):c.104A>G (p.His35Arg) rs199534441 0.00002
NM_020717.5(SHROOM4):c.3955G>A (p.Glu1319Lys) rs782659789 0.00002
NM_020754.4(ARHGAP31):c.4139C>T (p.Thr1380Ile) rs9852894 0.00002
NM_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724 0.00002
NM_022082.4(SLC17A9):c.931C>T (p.Arg311Trp) rs368854989 0.00002
NM_022124.6(CDH23):c.8378G>A (p.Arg2793Gln) rs547034667 0.00002
NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser) rs554414788 0.00002
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val) rs121917882 0.00002
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002
NM_138701.4(MPLKIP):c.124C>T (p.Arg42Ter) rs779644594 0.00002
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile) rs778910338 0.00002
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) rs760752847 0.00002
NM_178510.2(ANKK1):c.766G>A (p.Glu256Lys) rs780936187 0.00002
NM_182894.3(VSX2):c.679C>T (p.Arg227Trp) rs121912545 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter) rs549779256 0.00002
NM_198576.4(AGRN):c.2338G>A (p.Ala780Thr) rs540467706 0.00002
NM_207122.2(EXT2):c.1393C>T (p.Arg465Ter) rs772690312 0.00002
NM_000017.4(ACADS):c.1031A>G (p.Glu344Gly) rs387906950 0.00001
NM_000019.4(ACAT1):c.997G>C (p.Ala333Pro) rs120074147 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000026.4(ADSL):c.1337C>A (p.Pro446His) rs755964863 0.00001
NM_000027.4(AGA):c.115G>A (p.Ala39Thr) rs763326444 0.00001
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330 0.00001
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter) rs104893944 0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000069.3(CACNA1S):c.2327C>A (p.Ala776Asp) rs1428214499 0.00001
NM_000070.3(CAPN3):c.490C>T (p.His164Tyr) rs1595819813 0.00001
NM_000098.3(CPT2):c.499C>T (p.Arg167Trp) rs780940242 0.00001
NM_000132.4(F8):c.6977G>A (p.Arg2326Gln) rs137852360 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000159.4(GCDH):c.826G>T (p.Val276Leu) rs763300541 0.00001
NM_000161.3(GCH1):c.274C>A (p.Leu92Ile) rs763294577 0.00001
NM_000166.6(GJB1):c.670C>T (p.Arg224Cys) rs1426533412 0.00001
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp) rs386833556 0.00001
NM_000170.3(GLDC):c.2405C>T (p.Ala802Val) rs121964977 0.00001
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000188.3(HK1):c.1393G>A (p.Glu465Lys) rs780576140 0.00001
NM_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 0.00001
NM_000199.5(SGSH):c.544C>T (p.Arg182Cys) rs529855742 0.00001
NM_000199.5(SGSH):c.812C>T (p.Thr271Met) rs746776254 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg) rs587779954 0.00001
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087 0.00001
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val) rs730880761 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 0.00001
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys) rs782808261 0.00001
NM_000263.4(NAGLU):c.1444C>T (p.Arg482Trp) rs104894596 0.00001
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595 0.00001
NM_000264.5(PTCH1):c.1322G>A (p.Arg441His) rs767273237 0.00001
NM_000270.4(PNP):c.410A>G (p.Asn137Ser) rs766527065 0.00001
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile) rs1555472064 0.00001
NM_000302.4(PLOD1):c.352C>T (p.Arg118Trp) rs771186398 0.00001
NM_000310.4(PPT1):c.367G>A (p.Ala123Thr) rs755565099 0.00001
NM_000310.4(PPT1):c.490C>T (p.Arg164Ter) rs386833649 0.00001
NM_000316.3(PTH1R):c.440G>A (p.Arg147His) rs576428067 0.00001
NM_000334.4(SCN4A):c.151G>A (p.Glu51Lys) rs751390409 0.00001
NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr) rs121912696 0.00001
NM_000374.5(UROD):c.932A>G (p.Tyr311Cys) rs121918061 0.00001
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly) rs1471156821 0.00001
NM_000391.4(TPP1):c.1340G>A (p.Arg447His) rs119455956 0.00001
NM_000400.4(ERCC2):c.1195C>T (p.Leu399Phe) rs551211003 0.00001
NM_000404.4(GLB1):c.1051C>T (p.Arg351Ter) rs72555372 0.00001
NM_000404.4(GLB1):c.443G>A (p.Arg148His) rs745864233 0.00001
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His) rs578183193 0.00001
NM_000463.3(UGT1A1):c.1006C>T (p.Arg336Trp) rs139607673 0.00001
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter) rs770564267 0.00001
NM_000487.6(ARSA):c.245G>A (p.Arg82Gln) rs769892461 0.00001
NM_000492.4(CFTR):c.376G>A (p.Gly126Ser) rs397508606 0.00001
NM_000492.4(CFTR):c.416A>C (p.His139Pro) rs76371115 0.00001
NM_000512.5(GALNS):c.1219A>C (p.Asn407His) rs749578474 0.00001
NM_000518.5(HBB):c.48G>A (p.Trp16Ter) rs34716011 0.00001
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721 0.00001
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) rs566580738 0.00001
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 0.00001
NM_000639.3(FASLG):c.349-45G>T rs778330321 0.00001
NM_000642.3(AGL):c.664+3A>G rs370792293 0.00001
NM_000709.4(BCKDHA):c.1069C>T (p.Gln357Ter) rs762199542 0.00001
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_000748.3(CHRNB2):c.1291G>C (p.Val431Leu) rs1064796396 0.00001
NM_000748.3(CHRNB2):c.317G>A (p.Arg106Gln) rs779199533 0.00001
NM_000875.5(IGF1R):c.4055G>T (p.Gly1352Val) rs759808066 0.00001
NM_001001344.3(ATP2B3):c.3284G>A (p.Arg1095Gln) rs782067205 0.00001
NM_001003841.3(SLC6A19):c.1888G>A (p.Gly630Arg) rs1298382357 0.00001
NM_001010867.4(IBA57):c.313C>T (p.Arg105Trp) rs1298056442 0.00001
NM_001032382.2(PQBP1):c.778C>T (p.Arg260Ter) rs781987043 0.00001
NM_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys) rs1565475355 0.00001
NM_001039958.2(MESP2):c.583G>T (p.Gly195Ter) rs1183901221 0.00001
NM_001040142.2(SCN2A):c.1837G>A (p.Val613Met) rs769069833 0.00001
NM_001040716.2(PC):c.1832C>T (p.Thr611Met) rs757071897 0.00001
NM_001080414.4(CCDC88C):c.2554G>C (p.Asp852His) rs777136693 0.00001
NM_001082.5(CYP4F2):c.1250G>T (p.Gly417Val) rs780094643 0.00001
NM_001098.3(ACO2):c.1550C>T (p.Thr517Met) rs540169523 0.00001
NM_001104631.2(PDE4D):c.2179C>T (p.Arg727Trp) rs759832724 0.00001
NM_001110556.2(FLNA):c.2122C>T (p.Arg708Trp) rs782287086 0.00001
NM_001110556.2(FLNA):c.5240C>T (p.Ser1747Leu) rs1557176526 0.00001
NM_001110556.2(FLNA):c.546G>C (p.Gln182His) rs1557179648 0.00001
NM_001122764.3(PPOX):c.1072G>A (p.Gly358Arg) rs374936130 0.00001
NM_001130987.2(DYSF):c.2864+1G>A rs199954546 0.00001
NM_001137601.3(ZBTB42):c.1031C>T (p.Ser344Leu) rs1368607213 0.00001
NM_001139.3(ALOX12B):c.353-2A>G rs775524204 0.00001
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser) rs887619644 0.00001
NM_001159699.2(FHL1):c.499G>A (p.Val167Met) rs1332573754 0.00001
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile) rs770244296 0.00001
NM_001163435.3(TBCK):c.2159C>T (p.Ser720Phe) rs370050799 0.00001
NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter) rs1218073575 0.00001
NM_001174150.2(ARL13B):c.1133C>T (p.Pro378Leu) rs1385061611 0.00001
NM_001184.4(ATR):c.3152G>A (p.Arg1051His) rs770645649 0.00001
NM_001194998.2(CEP152):c.3834A>T (p.Lys1278Asn) rs760130069 0.00001
NM_001203.3(BMPR1B):c.80C>G (p.Pro27Arg) rs757312834 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001244008.2(KIF1A):c.2570G>A (p.Arg857Gln) rs1195594601 0.00001
NM_001258392.3(CLPB):c.1361T>C (p.Ile454Thr) rs770073084 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.46771T>C (p.Tyr15591His) rs775496863 0.00001
NM_001267550.2(TTN):c.57970C>T (p.Arg19324Trp) rs1203435642 0.00001
NM_001320752.2(STS):c.1111A>G (p.Ile371Val) rs748174656 0.00001
NM_001330195.2(NRXN3):c.4442G>A (p.Arg1481Gln) rs768341004 0.00001
NM_001348768.2(HECW2):c.2741C>T (p.Thr914Met) rs375518920 0.00001
NM_001363118.2(SLC52A2):c.1289A>G (p.Tyr430Cys) rs781873022 0.00001
NM_001365308.1(BMPER):c.1115A>G (p.Tyr372Cys) rs1562728956 0.00001
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222 0.00001
NM_001366102.1(TDRD12):c.2432G>A (p.Arg811Gln) rs1262515590 0.00001
NM_001368067.1(LDB3):c.430G>A (p.Gly144Ser) rs915830221 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_001371928.1(AHDC1):c.3692C>T (p.Pro1231Leu) rs559597076 0.00001
NM_001378183.1(PIEZO2):c.4367G>A (p.Ser1456Asn) rs1568013762 0.00001
NM_001378183.1(PIEZO2):c.6164C>T (p.Thr2055Met) rs1005911734 0.00001
NM_001378418.1(TCF20):c.278C>T (p.Ala93Val) rs1921571494 0.00001
NM_001379081.2(FREM1):c.5249A>G (p.Tyr1750Cys) rs762799389 0.00001
NM_001384125.1(BLTP1):c.439C>T (p.Arg147Cys) rs779054376 0.00001
NM_001386298.1(CIC):c.998G>A (p.Arg333His) rs1283116229 0.00001
NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser) rs529549122 0.00001
NM_001429.4(EP300):c.363G>C (p.Met121Ile) rs757476470 0.00001
NM_001556.3(IKBKB):c.1933C>T (p.Arg645Trp) rs753922163 0.00001
NM_001807.6(CEL):c.217+34C>T rs778382071 0.00001
NM_001846.4(COL4A2):c.313G>A (p.Val105Met) rs772439696 0.00001
NM_001848.3(COL6A1):c.1255G>A (p.Gly419Ser) rs745485695 0.00001
NM_001848.3(COL6A1):c.394G>A (p.Ala132Thr) rs1258934082 0.00001
NM_001853.4(COL9A3):c.920G>A (p.Gly307Asp) rs1422176468 0.00001
NM_001854.4(COL11A1):c.3568T>C (p.Phe1190Leu) rs1377819809 0.00001
NM_001918.5(DBT):c.902G>A (p.Arg301His) rs770981889 0.00001
NM_002016.2(FLG):c.10324A>T (p.Arg3442Ter) rs764094665 0.00001
NM_002150.3(HPD):c.75G>A (p.Trp25Ter) rs367674632 0.00001
NM_002161.6(IARS1):c.1358G>A (p.Arg453His) rs570962385 0.00001
NM_002335.4(LRP5):c.199G>A (p.Ala67Thr) rs544861971 0.00001
NM_002381.5(MATN3):c.664G>A (p.Val222Met) rs753889985 0.00001
NM_002472.3(MYH8):c.1771T>C (p.Tyr591His) rs760777722 0.00001
NM_002495.4(NDUFS4):c.355G>C (p.Asp119His) rs747359752 0.00001
NM_002547.3(OPHN1):c.215T>C (p.Ile72Thr) rs763066236 0.00001
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala) rs1185410324 0.00001
NM_002693.3(POLG):c.13C>T (p.Leu5Phe) rs761648850 0.00001
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln) rs764287987 0.00001
NM_002693.3(POLG):c.2419C>T (p.Arg807Cys) rs769827124 0.00001
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002834.5(PTPN11):c.959A>G (p.Asn320Ser) rs1398859175 0.00001
NM_002929.3(GRK1):c.92G>A (p.Arg31Gln) rs1243049516 0.00001
NM_002972.4(SBF1):c.4378T>G (p.Leu1460Val) rs1404020990 0.00001
NM_003002.4(SDHD):c.335C>T (p.Thr112Ile) rs199869408 0.00001
NM_003041.4(SLC5A2):c.1075G>A (p.Val359Met) rs1468390476 0.00001
NM_003124.5(SPR):c.655C>T (p.Arg219Ter) rs779204655 0.00001
NM_003165.6(STXBP1):c.1756G>A (p.Asp586Asn) rs746172968 0.00001
NM_003384.3(VRK1):c.398G>A (p.Arg133His) rs758978677 0.00001
NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg) rs371231725 0.00001
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090 0.00001
NM_004006.3(DMD):c.1000T>A (p.Leu334Met) rs1280415176 0.00001
NM_004082.5(DCTN1):c.59C>T (p.Ala20Val) rs773420384 0.00001
NM_004168.4(SDHA):c.1660C>T (p.Arg554Trp) rs9809219 0.00001
NM_004187.5(KDM5C):c.3442G>A (p.Val1148Met) rs782205045 0.00001
NM_004204.5(PIGQ):c.1345G>A (p.Gly449Arg) rs1361495767 0.00001
NM_004268.5(MED17):c.1898G>A (p.Arg633Gln) rs1356392449 0.00001
NM_004273.5(CHST3):c.1312C>T (p.Gln438Ter) rs1416783446 0.00001
NM_004369.4(COL6A3):c.2236C>A (p.Leu746Ile) rs755052076 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.6520G>A (p.Gly2174Ser) rs766458058 0.00001
NM_004370.6(COL12A1):c.2108C>T (p.Ala703Val) rs1013873051 0.00001
NM_004409.5(DMPK):c.1697C>T (p.Pro566Leu) rs536277584 0.00001
NM_004409.5(DMPK):c.1837G>T (p.Ala613Ser) rs1003871860 0.00001
NM_004493.3(HSD17B10):c.253G>A (p.Val85Met) rs1211736877 0.00001
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter) rs755835919 0.00001
NM_004551.3(NDUFS3):c.596G>A (p.Arg199Gln) rs771783839 0.00001
NM_004667.6(HERC2):c.6262G>A (p.Glu2088Lys) rs370318976 0.00001
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter) rs780030221 0.00001
NM_004736.4(XPR1):c.1954G>A (p.Val652Ile) rs748681314 0.00001
NM_004820.5(CYP7B1):c.955C>T (p.Arg319Cys) rs1410531135 0.00001
NM_004947.5(DOCK3):c.1153C>T (p.Arg385Cys) rs587776362 0.00001
NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp) rs756646293 0.00001
NM_005120.3(MED12):c.3210-27C>T rs752463122 0.00001
NM_005198.5(CHKB):c.138G>T (p.Glu46Asp) rs752292240 0.00001
NM_005216.5(DDOST):c.645G>C (p.Gln215His) rs867045420 0.00001
NM_005231.4(CTTN):c.*325_*326del rs758070018 0.00001
NM_005529.7(HSPG2):c.1190G>A (p.Arg397Gln) rs558798136 0.00001
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro) rs759336535 0.00001
NM_005675.6(DGCR6):c.539T>C (p.Leu180Pro) rs770547541 0.00001
NM_005677.4(COLQ):c.679C>T (p.Arg227Ter) rs770045897 0.00001
NM_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00001
NM_005787.6(ALG3):c.165C>T (p.Gly55=) rs387906273 0.00001
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp) rs138808270 0.00001
NM_006019.4(TCIRG1):c.1297C>T (p.Gln433Ter) rs777785526 0.00001
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln) rs1131691266 0.00001
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met) rs121434502 0.00001
NM_006279.5(ST3GAL3):c.631G>A (p.Glu211Lys) rs1448699021 0.00001
NM_006308.3(HSPB3):c.408T>A (p.Asp136Glu) rs746502208 0.00001
NM_006312.6(NCOR2):c.5312G>A (p.Arg1771His) rs774775666 0.00001
NM_006343.3(MERTK):c.1450G>A (p.Gly484Ser) rs527236084 0.00001
NM_006432.5(NPC2):c.190+5G>A rs80358268 0.00001
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568 0.00001
NM_006623.4(PHGDH):c.797C>T (p.Pro266Leu) rs775936961 0.00001
NM_006642.5(SDCCAG8):c.1783T>G (p.Phe595Val) rs776765317 0.00001
NM_006721.4(ADK):c.71A>T (p.Asn24Ile) rs1271395440 0.00001
NM_006904.7(PRKDC):c.6952G>A (p.Ala2318Thr) rs779732085 0.00001
NM_006918.5(SC5D):c.223C>T (p.Arg75Ter) rs1313359281 0.00001
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln) rs753491527 0.00001
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser) rs369223840 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_007294.4(BRCA1):c.3607C>T (p.Arg1203Ter) rs62625308 0.00001
NM_012265.3(RHBDD3):c.238C>T (p.Gln80Ter) rs1446100794 0.00001
NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) rs587777167 0.00001
NM_012470.4(TNPO3):c.2768G>A (p.Arg923Gln) rs750548861 0.00001
NM_014008.5(CCDC22):c.197G>A (p.Arg66His) rs199545573 0.00001
NM_014191.4(SCN8A):c.618T>A (p.Tyr206Ter) rs1490133991 0.00001
NM_014239.4(EIF2B2):c.922G>A (p.Val308Met) rs372548739 0.00001
NM_014270.5(SLC7A9):c.605-3C>A rs749913021 0.00001
NM_014423.4(AFF4):c.1268_1270dup (p.Asn423_Ser424insTyr) rs764600828 0.00001
NM_014425.5(INVS):c.962A>G (p.Glu321Gly) rs749655348 0.00001
NM_014727.3(KMT2B):c.1337C>T (p.Pro446Leu) rs769921695 0.00001
NM_014989.7(RIMS1):c.1679-20563C>T rs891525901 0.00001
NM_015102.5(NPHP4):c.2437G>A (p.Val813Ile) rs781705623 0.00001
NM_015107.3(PHF8):c.2258G>A (p.Arg753Gln) rs1263803925 0.00001
NM_015166.4(MLC1):c.177+1G>T rs1374593138 0.00001
NM_015214.3(DDHD2):c.334C>T (p.Arg112Ter) rs755267771 0.00001
NM_015214.3(DDHD2):c.694C>T (p.Arg232Ter) rs1249841130 0.00001
NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys) rs774307423 0.00001
NM_015335.5(MED13L):c.3518G>T (p.Gly1173Val) rs773730403 0.00001
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) rs397514487 0.00001
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr) rs747048362 0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241 0.00001
NM_015665.6(AAAS):c.934C>T (p.Arg312Ter) rs121918547 0.00001
NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu) rs766760741 0.00001
NM_015978.3(TNNI3K):c.1051G>A (p.Gly351Ser) rs777466193 0.00001
NM_016013.4(NDUFAF1):c.901A>T (p.Ile301Phe) rs759274620 0.00001
NM_016035.5(COQ4):c.458C>T (p.Ala153Val) rs757173567 0.00001
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp) rs797045567 0.00001
NM_016138.5(COQ7):c.161G>A (p.Arg54Gln) rs770654508 0.00001
NM_016169.4(SUFU):c.1015C>T (p.Arg339Trp) rs773037813 0.00001
NM_016169.4(SUFU):c.325G>A (p.Gly109Arg) rs192025919 0.00001
NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr) rs1170556084 0.00001
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met) rs368088727 0.00001
NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg) rs1577598082 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys) rs746753722 0.00001
NM_018010.4(IFT57):c.1168A>G (p.Met390Val) rs1168796234 0.00001
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln) rs764854489 0.00001
NM_018451.5(CENPJ):c.3893G>A (p.Arg1298Gln) rs1477524771 0.00001
NM_018489.3(ASH1L):c.8156G>A (p.Arg2719His) rs375304383 0.00001
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161 0.00001
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter) rs745663149 0.00001
NM_018979.4(WNK1):c.5068C>G (p.Pro1690Ala) rs771546256 0.00001
NM_019023.5(PRMT7):c.454G>A (p.Gly152Arg) rs200195216 0.00001
NM_019032.6(ADAMTSL4):c.1936G>A (p.Val646Met) rs765795619 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn) rs774565207 0.00001
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys) rs948280864 0.00001
NM_020347.4(LZTFL1):c.64C>T (p.Arg22Cys) rs1335038702 0.00001
NM_020461.4(TUBGCP6):c.1066G>A (p.Val356Met) rs773504995 0.00001
NM_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_020771.4(HACE1):c.1396C>T (p.Gln466Ter) rs1337798545 0.00001
NM_020944.3(GBA2):c.1285C>T (p.Arg429Trp) rs748661440 0.00001
NM_021023.6(CFHR3):c.803G>T (p.Cys268Phe) rs745503234 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_021926.4(ALX4):c.1192A>G (p.Met398Val) rs1399189995 0.00001
NM_022167.4(XYLT2):c.341C>T (p.Pro114Leu) rs754863487 0.00001
NM_022356.4(P3H1):c.462C>G (p.Phe154Leu) rs1404923329 0.00001
NM_022455.5(NSD1):c.1085G>A (p.Arg362Gln) rs769733603 0.00001
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg) rs143406017 0.00001
NM_024105.4(ALG12):c.367G>A (p.Gly123Arg) rs1555930118 0.00001
NM_024105.4(ALG12):c.644C>T (p.Pro215Leu) rs777173365 0.00001
NM_024301.5(FKRP):c.968G>A (p.Arg323His) rs1349031936 0.00001
NM_024306.5(FA2H):c.460C>T (p.Arg154Cys) rs387907040 0.00001
NM_024741.3(ZNF408):c.1708G>A (p.Glu570Lys) rs767306062 0.00001
NM_025136.4(OPA3):c.214A>G (p.Asn72Asp) rs1382779104 0.00001
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149 0.00001
NM_032119.4(ADGRV1):c.1093G>T (p.Asp365Tyr) rs372147148 0.00001
NM_032119.4(ADGRV1):c.13537C>A (p.Pro4513Thr) rs751291710 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_052867.4(NALCN):c.1434+1G>A rs2041614157 0.00001
NM_052867.4(NALCN):c.4236C>A (p.Tyr1412Ter) rs1158771233 0.00001
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636 0.00001
NM_130810.4(DNAAF4):c.1111C>T (p.Arg371Ter) rs774796257 0.00001
NM_138576.4(BCL11B):c.1474C>T (p.Leu492Phe) rs1886469645 0.00001
NM_138615.3(DHX30):c.1352C>T (p.Pro451Leu) rs368673690 0.00001
NM_138773.4(SLC25A46):c.371G>A (p.Arg124His) rs756258729 0.00001
NM_152281.3(GORAB):c.649T>C (p.Tyr217His) rs749490786 0.00001
NM_152393.4(KLHL40):c.1396G>A (p.Val466Ile) rs773720799 0.00001
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs) rs483352894 0.00001
NM_152641.4(ARID2):c.4769C>T (p.Pro1590Leu) rs765441891 0.00001
NM_153676.4(USH1C):c.92G>A (p.Arg31Gln) rs776511246 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_176787.5(PIGN):c.1240T>A (p.Phe414Ile) rs548412299 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_176824.3(BBS7):c.719G>A (p.Gly240Asp) rs761403504 0.00001
NM_178170.3(NEK8):c.1036G>A (p.Gly346Ser) rs1179113718 0.00001
NM_178862.3(STT3B):c.619A>G (p.Ile207Val) rs780102016 0.00001
NM_181672.3(OGT):c.349C>T (p.Arg117Cys) rs1317050680 0.00001
NM_182760.4(SUMF1):c.1045C>T (p.Arg349Trp) rs137852846 0.00001
NM_183075.3(CYP2U1):c.370C>T (p.His124Tyr) rs1048541745 0.00001
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384 0.00001
NM_198428.3(BBS9):c.445C>T (p.Arg149Ter) rs781174906 0.00001
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter) rs1235928535 0.00001
NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg) rs776703437 0.00001
NM_203446.3(SYNJ1):c.3601C>T (p.Arg1201Cys) rs114994257 0.00001
NM_207118.3(GTF2H5):c.36-2A>G rs765378190 0.00001
NM_213649.2(SFXN4):c.940C>T (p.Gln314Ter) rs1156283736 0.00001
NC_000002.12:g.31532094_31545036delinsCA
NC_000009.12:g.130677193_130686925del
NC_000010.11:g.68247368_68253890del
NC_012920.1(MT-CO3):m.9804G>A rs200613617
NC_012920.1:m.11467A>G rs2853493
NC_012920.1:m.12372G>A rs2853499
NM_000018.4(ACADVL):c.325G>A (p.Val109Met) rs754207297
NM_000022.4(ADA):c.678+5G>A rs763478578
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000044.6(AR):c.1370GCG[20] (p.Gly471_Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[5] (p.Gly462_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[7] (p.Gly464_Gly473del) rs746853821
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.2342T>A (p.Met781Lys) rs2076137339
NM_000046.5(ARSB):c.982G>C (p.Gly328Arg) rs748454316
NM_000048.4(ASL):c.1079T>C (p.Met360Thr) rs875989948
NM_000049.4(ASPA):c.244dup (p.Met82fs) rs756198538
NM_000049.4(ASPA):c.309dup (p.Asp104fs) rs1209227358
NM_000049.4(ASPA):c.437_449del (p.Ser146fs) rs2073669074
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.467G>A (p.Trp156Ter) rs876658159
NM_000052.7(ATP7A):c.3049G>A (p.Gly1017Arg) rs1557236754
NM_000052.7(ATP7A):c.3140G>A (p.Gly1047Glu) rs1557237050
NM_000052.7(ATP7A):c.3778A>G (p.Thr1260Ala) rs1603390837
NM_000053.4(ATP7B):c.1907C>A (p.Pro636His) rs1593739354
NM_000053.4(ATP7B):c.2701A>G (p.Lys901Glu) rs1593695760
NM_000057.4(BLM):c.205G>A (p.Glu69Lys) rs746195311
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.331A>G (p.Asn111Asp) rs1555280839
NM_000059.4(BRCA2):c.3455T>G (p.Leu1152Ter) rs80358593
NM_000059.4(BRCA2):c.3751dup (p.Thr1251fs) rs397507683
NM_000059.4(BRCA2):c.3830del (p.Asn1277fs) rs397507689
NM_000059.4(BRCA2):c.5081G>T (p.Arg1694Ile) rs753721331
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5555T>A (p.Val1852Asp) rs483352930
NM_000059.4(BRCA2):c.6261_6262insGT (p.Thr2088fs) rs1555284614
NM_000059.4(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.4(BRCA2):c.7679_7680del (p.Phe2560fs) rs80359673
NM_000059.4(BRCA2):c.793+64del rs751977993
NM_000059.4(BRCA2):c.8395del (p.Arg2799fs) rs80359709
NM_000059.4(BRCA2):c.8490G>A (p.Trp2830Ter) rs587776351
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs) rs80359720
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.4(BRCA2):c.9266C>T (p.Pro3089Leu) rs1555289499
NM_000059.4(BRCA2):c.9827G>A (p.Arg3276Lys) rs1555289967
NM_000063.6(C2):c.839_849del (p.Met280fs) rs1770220135
NM_000066.4(C8B):c.361C>T (p.Arg121Ter) rs150022116
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter) rs1554709677
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met) rs750807406
NM_000069.3(CACNA1S):c.2157+1G>A rs1572045885
NM_000071.3(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000079.4(CHRNA1):c.995T>C (p.Val332Ala) rs1558909889
NM_000080.4(CHRNE):c.1219+33G>A rs1392547473
NM_000080.4(CHRNE):c.1327del rs763258280
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) rs1554435319
NM_000085.5(CLCNKB):c.1476del (p.Gly493fs) rs1159737562
NM_000088.4(COL1A1):c.1002+2T>C rs786205507
NM_000089.4(COL1A2):c.2405G>T (p.Gly802Val) rs1562906013
NM_000094.4(COL7A1):c.4233del (p.Gly1412fs) rs1560241522
NM_000094.4(COL7A1):c.6022C>T (p.Arg2008Cys) rs1055680335
NM_000098.3(CPT2):c.1734dup (p.Tyr579fs)
NM_000112.4(SLC26A2):c.374A>T (p.Gln125Leu) rs875989951
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000123.4(ERCC5):c.348_352del (p.Arg116fs) rs1242579404
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.2824A>C (p.Thr942Pro) rs1590407957
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658
NM_000146.4(FTL):c.190G>A (p.Glu64Lys) rs11553225
NM_000151.4(G6PC1):c.305T>A (p.Ile102Lys)
NM_000151.4(G6PC1):c.592_593del (p.Ile198fs) rs2151932243
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000153.4(GALC):c.578T>C (p.Ile193Thr) rs1555383498
NM_000155.4(GALT):c.572C>T (p.Ala191Val) rs794727838
NM_000156.6(GAMT):c.491del (p.Gly164fs) rs749390953
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu) rs369068553
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000159.4(GCDH):c.1205G>A (p.Arg402Gln) rs786204626
NM_000159.4(GCDH):c.541G>C (p.Glu181Gln) rs745852738
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000169.3(GLA):c.727T>A (p.Leu243Met) rs782453201
NM_000170.3(GLDC):c.1100C>T (p.Thr367Ile) rs1183976692
NM_000170.3(GLDC):c.1853G>A (p.Gly618Glu) rs1563839743
NM_000170.3(GLDC):c.2544C>G (p.Tyr848Ter) rs1554643354
NM_000171.4(GLRA1):c.252+2T>C rs1554085893
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
NM_000180.4(GUCY2D):c.2945-2A>C rs1975955933
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu) rs1583924426
NM_000182.5(HADHA):c.2131C>T (p.Pro711Ser) rs138966725
NM_000183.3(HADHB):c.694G>A (p.Ala232Thr) rs987203346
NM_000183.3(HADHB):c.901G>C (p.Gly301Arg) rs891954464
NM_000187.4(HGD):c.175del (p.Ser59fs) rs397515517
NM_000187.4(HGD):c.189G>T (p.Arg63Ser) rs1390061303
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) rs118204110
NM_000191.3(HMGCL):c.499T>A (p.Tyr167Asn) rs1553132209
NM_000194.2(HPRT1):c.151C>T (p.Arg51Ter) rs137852494
NM_000199.5(SGSH):c.578T>C (p.Phe193Ser) rs1555621662
NM_000199.5(SGSH):c.763del (p.Gln255fs) rs1555620827
NM_000199.5(SGSH):c.89-2A>G rs1369704445
NM_000202.8(IDS):c.1099A>T (p.Thr367Ser) rs1557338131
NM_000202.8(IDS):c.196C>T (p.Gln66Ter) rs1557340403
NM_000202.8(IDS):c.473ATC[1] (p.His159del) rs1557339887
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
NM_000203.5(IDUA):c.1084C>T (p.Gln362Ter) rs1715144653
NM_000203.5(IDUA):c.523T>C (p.Trp175Arg) rs875989946
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947
NM_000211.4(ITGB2):c.[576dupC];[706G>A]
NM_000211.5(ITGB2):c.1030G>T (p.Glu344Ter) rs483352816
NM_000211.5(ITGB2):c.1143del (p.Tyr382fs) rs483352817
NM_000211.5(ITGB2):c.1877+2T>C rs483352818
NM_000211.5(ITGB2):c.1878-45dup rs35293792
NM_000211.5(ITGB2):c.1907del (p.Lys636fs) rs483352819
NM_000211.5(ITGB2):c.2247+57C>T rs33973568
NM_000211.5(ITGB2):c.382G>T (p.Asp128Tyr) rs137852615
NM_000211.5(ITGB2):c.576dup (p.Asn193fs) rs483352813
NM_000211.5(ITGB2):c.706G>A (p.Gly236Arg) rs483352814
NM_000211.5(ITGB2):c.715G>A (p.Ala239Thr) rs179363873
NM_000211.5(ITGB2):c.843del (p.Asn282fs) rs483352815
NM_000211.5(ITGB2):c.897+1G>T rs201752283
NM_000214.3(JAG1):c.2113+5G>C rs886044704
NM_000215.4(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.4(JAK3):c.3257C>T (p.Pro1086Leu) rs777493612
NM_000226.4(KRT9):c.1674T>G (p.Tyr558Ter) rs1906910979
NM_000228.3(LAMB3):c.1344_1345del (p.Ser448fs) rs1553277267
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000234.3(LIG1):c.2068G>A (p.Glu690Lys) rs1599745490
NM_000237.3(LPL):c.797G>A (p.Cys266Tyr) rs1554517725
NM_000249.4(MLH1):c.355A>G (p.Thr119Ala) rs977932120
NM_000251.3(MSH2):c.163C>T (p.Arg55Trp) rs587782354
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) rs1569565536
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala) rs879253847
NM_000255.4(MMUT):c.2T>C (p.Met1Thr) rs879253820
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000257.4(MYH7):c.195T>G (p.Tyr65Ter) rs934278063
NM_000257.4(MYH7):c.2335G>C (p.Glu779Gln) rs1427104281
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln) rs727505325
NM_000257.4(MYH7):c.3985dup (p.Leu1329fs) rs1566526391
NM_000262.3(NAGA):c.59A>G (p.Asn20Ser) rs1022560950
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000263.4(NAGLU):c.1944dup (p.Trp649fs) rs886039895
NM_000263.4(NAGLU):c.480del (p.Asn160fs) rs886039894
NM_000263.4(NAGLU):c.534_535del (p.Tyr179fs) rs1567891258
NM_000266.4(NDP):c.200G>T (p.Gly67Val) rs1460859456
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682
NM_000271.5(NPC1):c.1171G>T (p.Glu391Ter) rs1555637139
NM_000271.5(NPC1):c.881+1G>T rs1555638409
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000284.4(PDHA1):c.1133G>A (p.Arg378His) rs137853250
NM_000285.4(PEPD):c.393+4G>A rs1555769771
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) rs61752098
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del) rs61752102
NM_000286.3(PEX12):c.959C>T (p.Ser320Phe) rs28936697
NM_000290.4(PGAM2):c.533del (p.Gly178fs) rs747947171
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) rs773766679
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) rs1569286164
NM_000298.6(PKLR):c.1511G>A (p.Arg504His) rs185753709
NM_000302.4(PLOD1):c.1651-2A>C rs565513365
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000314.8(PTEN):c.196A>T (p.Lys66Ter) rs1554897271
NM_000329.3(RPE65):c.556G>A (p.Asp186Asn) rs1553153243
NM_000334.4(SCN4A):c.3062G>T (p.Arg1021Leu) rs770497876
NM_000340.2(SLC2A2):c.1043dup (p.Asn349fs) rs1553785722
NM_000340.2(SLC2A2):c.613-1G>C rs1553786361
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup) rs775681808
NM_000350.3(ABCA4):c.1819G>C (p.Gly607Arg) rs61749412
NM_000350.3(ABCA4):c.2713del (p.Glu905fs) rs869312184
NM_000350.3(ABCA4):c.5172G>A (p.Trp1724Ter) rs1557767754
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala) rs1564890766
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000371.4(TTR):c.122G>A (p.Arg41Gln) rs879254269
NM_000372.5(TYR):c.-9_-7delinsGG rs483352878
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser) rs1344899647
NM_000374.5(UROD):c.21-1G>C rs1644814606
NM_000376.3(VDR):c.220C>A (p.Arg74Ser)
NM_000376.3(VDR):c.821G>A (p.Arg274His) rs121909796
NM_000381.4(MID1):c.757-5831A>G rs1555896387
NM_000382.3(ALDH3A2):c.908G>T (p.Gly303Val)
NM_000382.3(ALDH3A2):c.932G>T (p.Arg311Leu)
NM_000399.5(EGR2):c.1084C>T (p.Arg362Ter) rs1554853028
NM_000399.5(EGR2):c.380C>T (p.Pro127Leu) rs932803146
NM_000400.4(ERCC2):c.1636G>A (p.Glu546Lys) rs769146546
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_000404.4(GLB1):c.1577dup (p.Trp527fs) rs794729217
NM_000404.4(GLB1):c.439C>T (p.Leu147Phe) rs1553612143
NM_000426.4(LAMA2):c.1127del (p.Gly376fs) rs1583149141
NM_000426.4(LAMA2):c.397-4_478del rs1554217494
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln) rs1554287445
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr) rs1299914386
NM_000426.4(LAMA2):c.7452-1G>A rs1554304931
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val) rs778258870
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg) rs886039896
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala) rs1554226736
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu) rs762958440
NM_000427.3(LORICRIN):c.112GGC[5] (p.Gly41dup) rs770195151
NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln) rs111033318
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter) rs786204581
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000444.6(PHEX):c.1587-1G>A rs886041839
NM_000465.4(BARD1):c.2106C>G (p.Ile702Met) rs1559372357
NM_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_000475.5(NR0B1):c.1267del (p.His423fs) rs1569268048
NM_000483.5(APOC2):c.189C>A (p.Tyr63Ter) rs754423238
NM_000487.6(ARSA):c.449C>T (p.Pro150Leu) rs199476375
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000492.3(CFTR):c.13196C>T rs1554398510
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) rs3034796
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.409del (p.Leu137fs) rs397508672
NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp) rs1403393545
NM_000497.4(CYP11B1):c.953C>T (p.Thr318Met) rs104894061
NM_000507.4(FBP1):c.841G>T (p.Glu281Ter) rs566453434
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000512.5(GALNS):c.1502G>A (p.Cys501Tyr) rs948490589
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys) rs786205899
NM_000512.5(GALNS):c.952A>G (p.Met318Val) rs537013895
NM_000518.4(HBB):c.92G>C (p.Arg31Thr) rs33960103
NM_000518.5(HBB):c.112del (p.Trp38fs) rs63750532
NM_000518.5(HBB):c.315+1G>T rs33945777
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000521.4(HEXB):c.833C>T (p.Ala278Val) rs886044118
NM_000525.4(KCNJ11):c.238del (p.Leu80fs) rs1953589834
NM_000525.4(KCNJ11):c.368dup (p.Ser124fs) rs1554901822
NM_000530.8(MPZ):c.637G>A (p.Gly213Arg) rs202176679
NM_000531.6(OTC):c.674C>T (p.Pro225Leu) rs67120076
NM_000532.5(PCCB):c.373-1246G>A rs996480567
NM_000540.3(RYR1):c.10702T>G (p.Ser3568Ala) rs772784769
NM_000540.3(RYR1):c.11687A>T (p.Asn3896Ile) rs1555793251
NM_000540.3(RYR1):c.1289C>A (p.Pro430His)
NM_000540.3(RYR1):c.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.1627T>G (p.Leu543Val) rs946863283
NM_000540.3(RYR1):c.2485C>T (p.Arg829Ter) rs778320565
NM_000540.3(RYR1):c.5503G>A (p.Glu1835Lys) rs1600773722
NM_000540.3(RYR1):c.7114G>C (p.Gly2372Arg) rs1600820601
NM_000540.3(RYR1):c.7927-7C>T rs886054395
NM_000540.3(RYR1):c.8159C>A (p.Ser2720Ter) rs1568510406
NM_000540.3(RYR1):c.8446A>G (p.Met2816Val) rs775492883
NM_000540.3(RYR1):c.9643G>A (p.Ala3215Thr) rs745421419
NM_000542.5(SFTPB):c.1084-1G>A rs1558572491
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000543.5(SMPD1):c.416T>C (p.Leu139Pro) rs797044797
NM_000545.8(HNF1A):c.43G>T (p.Ala15Ser) rs1265717222
NM_000546.6(TP53):c.526T>C (p.Cys176Arg) rs967461896
NM_000546.6(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys) rs1555507478
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr) rs1555439825
NM_000558.5(HBA1):c.2T>G (p.Met1Arg) rs1316527998
NM_000578.4(SLC11A1):c.806T>C (p.Ile269Thr) rs754247821
NM_000611.6(CD59):c.190T>G (p.Cys64Gly) rs1554939509
NM_000611.6(CD59):c.85T>G (p.Tyr29Asp) rs1564972905
NM_000617.3(SLC11A2):c.715G>A (p.Gly239Ser) rs1592344306
NM_000642.3(AGL):c.3302G>A (p.Arg1101Lys)
NM_000642.3(AGL):c.4037C>T (p.Ser1346Leu) rs1553192908
NM_000642.3(AGL):c.4221dup (p.Leu1408fs) rs786204655
NM_000642.3(AGL):c.889A>T (p.Lys297Ter)
NM_000660.7(TGFB1):c.535T>C (p.Trp179Arg) rs1568478752
NM_000700.3(ANXA1):c.209_212del (p.Thr70fs) rs1563961902
NM_000709.4(BCKDHA):c.143del (p.Leu48fs) rs1555765593
NM_000718.4(CACNA1B):c.4953C>A (p.Ser1651Arg) rs200540820
NM_000718.4(CACNA1B):c.5233A>G (p.Ser1745Gly) rs1554758384
NM_000744.7(CHRNA4):c.496A>T (p.Thr166Ser) rs1568810867
NM_000751.3(CHRND):c.1181A>C (p.Lys394Thr) rs1553575390
NM_000784.4(CYP27A1):c.808C>T (p.Arg270Ter) rs72551318
NM_000812.4(GABRB1):c.307C>T (p.Pro103Ser) rs775749394
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000817.3(GAD1):c.1672C>T (p.Pro558Ser) rs774953382
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs) rs1783569729
NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter) rs1598211614
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
NM_000975.5(RPL11):c.43_49del (p.Leu15fs) rs1553121678
NM_001001548.3(CD36):c.784dup (p.Gln262fs) rs766920034
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile) rs2079508089
NM_001002800.3(SMC4):c.1513G>T (p.Glu505Ter) rs1236643072
NM_001003800.2(BICD2):c.1618C>G (p.His540Asp) rs1564060049
NM_001003800.2(BICD2):c.703A>C (p.Ile235Leu) rs1587670538
NM_001003800.2(BICD2):c.94G>C (p.Glu32Gln) rs1564076641
NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys) rs1554035332
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter) rs1572952530
NM_001007237.3(IGSF3):c.1724G>A (p.Trp575Ter) rs61730489
NM_001011.4(RPS7):c.519T>A (p.Phe173Leu) rs1572360947
NM_001017420.3(ESCO2):c.1111dup (p.Thr371fs) rs80359859
NM_001024630.4(RUNX2):c.159ACAGCAGCAGCAGCA[3] (p.Gln67_Gln71dup) rs781355841
NM_001024630.4(RUNX2):c.217del (p.Ala73fs) rs1554384228
NM_001024630.4(RUNX2):c.233_234insAGGA (p.Ala79fs) rs1338909353
NM_001024630.4(RUNX2):c.3G>A (p.Met1Ile) rs1562961725
NM_001029885.2(CPTP):c.193G>T (p.Glu65Ter) rs1569622035
NM_001029896.2(WDR45):c.1004_1005del (p.Tyr335fs) rs387907328
NM_001029896.2(WDR45):c.657_658del (p.Leu219_Phe220insTer) rs1569523468
NM_001031834.1(RAB40AL):c.2T>A (p.Met1Lys) rs767350323
NM_001033044.4(GLUL):c.997AAG[1] (p.Lys334del) rs1558157160
NM_001034850.3(RETREG1):c.458+2T>C rs1741988534
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del) rs1569041188
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg) rs1555896093
NM_001039591.3(USP9X):c.3304G>A (p.Ala1102Thr) rs1555927212
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln) rs755003900
NM_001040142.2(SCN2A):c.4312G>A (p.Glu1438Lys) rs1553462096
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter) rs1383641417
NM_001042432.2(CLN3):c.790+3A>C rs386833738
NM_001042492.3(NF1):c.1246C>T (p.Arg416Ter) rs764079291
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.3113+1G>T rs267606599
NM_001042492.3(NF1):c.827T>A (p.Leu276Ter) rs2066158230
NM_001042681.2(RERE):c.2134T>C (p.Ser712Pro) rs1570039432
NM_001042681.2(RERE):c.3346C>A (p.Pro1116Thr) rs1557585339
NM_001042723.1(RYR1):c.5140_5142del (p.Leu1714del) rs1438501767
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs) rs587778536
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001061.7(TBXAS1):c.605G>A (p.Trp202Ter)
NM_001067.4(TOP2A):c.3050A>T (p.Asp1017Val) rs1567784471
NM_001077418.3(TMEM231):c.-11G>T rs2080810222
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001080.3(ALDH5A1):c.1343+1G>A rs1561879380
NM_001080.3(ALDH5A1):c.1343+1_1343+3delinsTT rs875989801
NM_001080414.4(CCDC88C):c.3539G>A (p.Arg1180Gln) rs1166585047
NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile) rs376624048
NM_001081.4(CUBN):c.7955C>A (p.Ser2652Ter) rs1554790861
NM_001081.4(CUBN):c.8393G>A (p.Trp2798Ter) rs1841332247
NM_001083116.3(PRF1):c.1046T>C (p.Leu349Pro) rs1848169364
NM_001083116.3(PRF1):c.1175del (p.Pro392fs) rs1554867753
NM_001083614.2(EARS2):c.790C>G (p.Leu264Val) rs1555503379
NM_001083962.2(TCF4):c.785G>A (p.Arg262His) rs1555796645
NM_001084.5(PLOD3):c.1684C>T (p.Pro562Ser) rs369002471
NM_001089.3(ABCA3):c.1225C>G (p.Leu409Val) rs1567347771
NM_001089.3(ABCA3):c.1939C>T (p.Gln647Ter) rs2093682532
NM_001098.3(ACO2):c.2026C>G (p.Leu676Val) rs1569025557
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2797CCT[11] (p.Pro944_Pro945del) rs56717389
NM_001099922.3(ALG13):c.880C>T (p.Pro294Ser) rs753556936
NM_001101362.3(KBTBD13):c.1026T>G (p.Tyr342Ter) rs760601340
NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del) rs587777798
NM_001101426.4(CRPPA):c.722del (p.Leu241fs) rs1554320168
NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr) rs1554337589
NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly) rs1164930154
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs) rs267608589
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His) rs121912678
NM_001111125.3(IQSEC2):c.1637G>A (p.Trp546Ter) rs2074379209
NM_001111125.3(IQSEC2):c.3054G>A (p.Thr1018=) rs782748833
NM_001113226.3(NTNG1):c.1238A>T (p.Asp413Val) rs1570946113
NM_001123385.2(BCOR):c.3437_3445del (p.Glu1146_Thr1148del) rs1555915744
NM_001123385.2(BCOR):c.4523G>C (p.Gly1508Ala) rs1569142538
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) rs763302316
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.5735G>A (p.Gly1912Glu) rs2054931821
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6684T>G (p.Tyr2228Ter) rs2054683190
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) rs2054617959
NM_001127649.3(PEX26):c.34dup (p.Leu12fs) rs61752129
NM_001128148.3(TFRC):c.1198+1G>T rs1341988492
NM_001128840.3(CACNA1D):c.5498A>G (p.Tyr1833Cys) rs1559716901
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212
NM_001130438.3(SPTAN1):c.1371G>T (p.Glu457Asp) rs1589203624
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) rs1568249130
NM_001130987.2(DYSF):c.231G>A (p.Gly77=) rs1553508988
NM_001134407.3(GRIN2A):c.2929A>C (p.Asn977His) rs776506065
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001139.3(ALOX12B):c.1566G>T (p.Pro522=) rs936466427
NM_001139.3(ALOX12B):c.305A>G (p.Tyr102Cys) rs1978296638
NM_001139.3(ALOX12B):c.527+2T>G rs1555643304
NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter) rs879253867
NM_001142784.3(IL11RA):c.331+2T>C rs1554710108
NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro) rs774268616
NM_001143992.2(WRAP53):c.1118del (p.Leu373fs) rs1597422298
NM_001144967.3(NEDD4L):c.1088C>T (p.Ala363Val) rs200565814
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
NM_001144967.3(NEDD4L):c.271T>A (p.Phe91Ile) rs1600253758
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser) rs1555180294
NM_001145809.2(MYH14):c.1979G>A (p.Gly660Asp) rs1568504395
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys) rs556548077
NM_001163435.3(TBCK):c.360_363del (p.His120fs) rs1560929669
NM_001163809.2(WDR81):c.1903C>T (p.Arg635Trp) rs759326308
NM_001164277.2(SLC37A4):c.344G>A (p.Gly115Glu)
NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs) rs1344099907
NM_001164508.2(NEB):c.4466G>T (p.Gly1489Val) rs74482326
NM_001164508.2(NEB):c.6127A>G (p.Arg2043Gly) rs1321911647
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001164508.2(NEB):c.9619C>T (p.Arg3207Cys) rs200351671
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys) rs757944456
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His) rs1574214734
NM_001165963.4(SCN1A):c.2416-1G>A rs1553542421
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His) rs1690003122
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val) rs780809852
NM_001170535.3(ATAD3A):c.400G>A (p.Asp134Asn) rs1427452560
NM_001170535.3(ATAD3A):c.817C>A (p.Arg273Ser) rs574343682
NM_001172303.3(MASTL):c.867T>A (p.Asn289Lys) rs535159862
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile) rs537556482
NM_001195248.2(APTX):c.484-1G>T rs1563963464
NM_001195305.3(BBIP1):c.38-6071C>G rs760064445
NM_001195553.2(DCX):c.288C>A (p.Asn96Lys) rs1556405057
NM_001197104.2(KMT2A):c.2348_2349del (p.Ser783fs) rs1064793451
NM_001197104.2(KMT2A):c.2541_2542del (p.Gly848fs)
NM_001197104.2(KMT2A):c.2896A>T (p.Arg966Ter) rs1555036801
NM_001197104.2(KMT2A):c.3542G>A (p.Gly1181Asp)
NM_001197104.2(KMT2A):c.5582G>T (p.Ser1861Ile) rs1950407707
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter) rs1567411469
NM_001199397.3(NEK1):c.2974+1G>T rs1561165983
NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro) rs1554020960
NM_001202.6(BMP4):c.839G>C (p.Arg280Pro) rs776094026
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs) rs797045841
NM_001243226.3(TCF4):c.74del (p.Asn25fs) rs752700752
NM_001244008.2(KIF1A):c.2380G>A (p.Val794Met) rs2050404791
NM_001264.5(CDSN):c.1490G>A (p.Arg497His) rs768301621
NM_001267550.2(TTN):c.10096del (p.Cys3366fs)
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp) rs1553480410
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter) rs747286444
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.23633A>T (p.Glu7878Val) rs1553906392
NM_001267550.2(TTN):c.31643C>T (p.Pro10548Leu) rs753460621
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.3487G>A (p.Gly1163Arg) rs1554015228
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971
NM_001267550.2(TTN):c.39379+2T>G rs1560102141
NM_001267550.2(TTN):c.69328T>C (p.Tyr23110His) rs1553616495
NM_001267550.2(TTN):c.70876G>T (p.Glu23626Ter) rs1559446852
NM_001267550.2(TTN):c.91363G>A (p.Val30455Met) rs766444853
NM_001267550.2(TTN):c.94906G>A (p.Asp31636Asn) rs776793953
NM_001271.4(CHD2):c.4297A>G (p.Lys1433Glu) rs1567160905
NM_001277062.2(MFF):c.337C>A (p.Pro113Thr) rs1414317381
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278464.2(DNM1L):c.253C>G (p.Pro85Ala) rs762401850
NM_001278716.2(FBXL4):c.1648_1649del (p.Asp550fs) rs1554215986
NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser) rs1563758595
NM_001283009.2(RTEL1):c.2627AGA[1] (p.Lys877del) rs1555812473
NM_001291303.3(FAT4):c.13399G>A (p.Val4467Met) rs1215405311
NM_001291303.3(FAT4):c.13525G>C (p.Ala4509Pro) rs1553931010
NM_001291303.3(FAT4):c.7267G>A (p.Ala2423Thr) rs776977766
NM_001291303.3(FAT4):c.913A>T (p.Ile305Phe) rs1553958385
NM_001308330.2(STXBP5L):c.2372G>C (p.Arg791Pro) rs200186528
NM_001317785.2(STYXL1):c.875dup (p.Leu293fs) rs1563451176
NM_001323043.2(PHTF1):c.1973dup (p.Leu658fs) rs1168463464
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737
NM_001330.5(CTF1):c.457del (p.Glu153fs) rs1567331398
NM_001330360.2(POLA1):c.412A>G (p.Asn138Asp) rs1555973963
NM_001330574.2(ZNF711):c.2210T>G (p.Leu737Arg) rs1555975302
NM_001346754.2(PIGW):c.608T>G (p.Leu203Trp) rs12952744
NM_001346754.2(PIGW):c.617_620del (p.Val206fs) rs753385776
NM_001348800.3(ZBTB20):c.1811A>C (p.Lys604Thr) rs483353069
NM_001349.4(DARS1):c.1481G>A (p.Arg494His) rs967111310
NM_001349253.2(SCN11A):c.4837G>A (p.Glu1613Lys) rs1559482661
NM_001352754.2(ARMC9):c.1767TGA[1] (p.Asp590del) rs1553618510
NM_001354604.2(MITF):c.1072G>A (p.Val358Met) rs1271000541
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001356.5(DDX3X):c.58G>T (p.Asp20Tyr) rs1569233520
NM_001358530.2(MOCS1):c.1508_1509del (p.Glu503fs) rs397518419
NM_001358530.2(MOCS1):c.253C>T (p.Gln85Ter) rs1768262580
NM_001359.2(DECR1):c.202G>A (p.Gly68Ser) rs1451324144
NM_001365088.1(SLC12A6):c.1099T>G (p.Phe367Val) rs767723184
NM_001365276.2(TNXB):c.7126G>T (p.Gly2376Cys) rs764295837
NM_001365276.2(TNXB):c.8867G>C (p.Gly2956Ala) rs1562797000
NM_001365536.1(SCN9A):c.347GAA[1] (p.Arg117del) rs1559030991
NM_001365999.1(SZT2):c.4343G>A (p.Arg1448His) rs775153972
NM_001367721.1(CASK):c.761G>A (p.Arg254His) rs1569376084
NM_001367721.1(CASK):c.824G>A (p.Trp275Ter) rs1602424764
NM_001368397.1(FRMPD4):c.580G>A (p.Val194Ile) rs2060020376
NM_001368809.2(AMPD2):c.806T>C (p.Leu269Pro) rs1570587910
NM_001368882.1(COL13A1):c.2040C>T (p.Pro680=) rs555259357
NM_001369.3(DNAH5):c.13413G>A (p.Trp4471Ter) rs1742093744
NM_001370298.3(FGD4):c.1367G>A (p.Arg456His) rs533939591
NM_001370298.3(FGD4):c.167-77996del rs1357153004
NM_001370466.1(NOD2):c.1951del (p.Leu651fs) rs1201050964
NM_001370595.2(COA8):c.41dup (p.Leu15fs) rs759966247
NM_001370595.2(COA8):c.476+1G>A rs900628637
NM_001371194.2(SEMA4D):c.1070G>A (p.Arg357His) rs534671276
NM_001371596.2(MFSD8):c.935T>C (p.Ile312Thr) rs556875684
NM_001371623.1(TCOF1):c.3683C>T (p.Ser1228Phe) rs1554079581
NM_001371928.1(AHDC1):c.2032C>T (p.Arg678Trp) rs1557663705
NM_001371928.1(AHDC1):c.2948dup (p.Thr984fs) rs1571232632
NM_001371986.1(UNC80):c.5421A>T (p.Glu1807Asp) rs1559333459
NM_001371986.1(UNC80):c.5570_5571del (p.Val1857fs) rs2090097617
NM_001372574.1(ATXN2):c.176_190del (p.Val59_Ser63del) rs778119853
NM_001374623.1(PNPLA1):c.374C>A (p.Thr125Asn) rs1554137705
NM_001374736.1(DST):c.21014A>C (p.Lys7005Thr) rs1562306218
NM_001374736.1(DST):c.5272G>A (p.Val1758Ile) rs1554488238
NM_001374828.1(ARID1B):c.1281_1295del (p.Ala429_Ala433del) rs1457993750
NM_001374828.1(ARID1B):c.1598_1599insAAC (p.Pro533_Ser534insThr) rs1562378653
NM_001375808.2(LPIN2):c.469C>T (p.Arg157Ter) rs916009547
NM_001377265.1(MAPT):c.47G>T (p.Gly16Val) rs755131800
NM_001377299.1(NDUFS2):c.268G>A (p.Ala90Thr) rs1553249704
NM_001377299.1(NDUFS2):c.934G>C (p.Asp312His) rs1482687384
NM_001377405.1(ATXN7):c.112_113insCGCCGC (p.Gln37_Gln38insProPro) rs1216716369
NM_001377405.1(ATXN7):c.1594G>A (p.Gly532Ser) rs991657534
NM_001378030.1(CCDC78):c.436-7C>G rs1567323012
NM_001378183.1(PIEZO2):c.16G>T (p.Val6Leu) rs1568417565
NM_001378183.1(PIEZO2):c.2170-2A>C rs1598479779
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly) rs2093873520
NM_001378452.1(ITPR1):c.1928A>G (p.Lys643Arg) rs2094030944
NM_001378454.1(ALMS1):c.12308_12310del (p.Ala4103_Ile4104delinsVal) rs1553422036
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378615.1(CC2D2A):c.1468C>T (p.Gln490Ter) rs1288358527
NM_001378615.1(CC2D2A):c.2561G>A (p.Trp854Ter) rs1560180188
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_001378615.1(CC2D2A):c.4396_4400del (p.Phe1466fs) rs1176927796
NM_001378615.1(CC2D2A):c.4483G>T (p.Glu1495Ter) rs1553845300
NM_001378615.1(CC2D2A):c.565G>A (p.Glu189Lys) rs1560157691
NM_001378778.1(MPDZ):c.5567A>C (p.Glu1856Ala) rs199730853
NM_001379029.1(CERT1):c.-114G>T rs1554048616
NM_001379029.1(CERT1):c.1301T>G (p.Val434Gly) rs375406284
NM_001379500.1(COL18A1):c.1158del (p.Gly387fs) rs1438060081
NM_001379500.1(COL18A1):c.1876C>T (p.Arg626Ter) rs753935209
NM_001379500.1(COL18A1):c.2964CCCCCCAGG[1] (p.985GPP[3]) rs759403198
NM_001382.4(DPAGT1):c.197T>C (p.Phe66Ser) rs1565766177
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del) rs483352837
NM_001384140.1(PCDH15):c.4368-3131A>C rs1564540949
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs) rs766484375
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_001384732.1(CPLANE1):c.5738-2A>G rs565629362
NM_001386298.1(CIC):c.92G>A (p.Arg31Gln) rs1047691694
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
NM_001386393.1(PANK2):c.606T>A (p.Cys202Ter) rs1555787799
NM_001388492.1(HTT):c.8687C>T (p.Ala2896Val) rs1578617337
NM_001414.4(EIF2B1):c.524T>A (p.Val175Asp) rs1955149380
NM_001457.4(FLNB):c.199C>T (p.His67Tyr) rs751371914
NM_001457.4(FLNB):c.5072G>A (p.Gly1691Asp) rs1553704446
NM_001458.5(FLNC):c.1199T>C (p.Ile400Thr) rs1562992604
NM_001458.5(FLNC):c.3266G>T (p.Gly1089Val) rs1258543242
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe) rs200295337
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala) rs1410531577
NM_001463.4(FRZB):c.282del (p.Ile95fs) rs1553503725
NM_001482.3(GATM):c.685A>G (p.Ile229Val) rs570670146
NM_001492.6(GDF1):c.1047_1050del (p.Phe349fs) rs768027510
NM_001492.6(GDF1):c.667dup (p.Ala223fs) rs2055909070
NM_001540.5(HSPB1):c.45C>A (p.Ser15Arg) rs780878780
NM_001541.4(HSPB2):c.411_417del (p.His138fs) rs1592513163
NM_001605.3(AARS1):c.1393C>G (p.Leu465Val) rs1555540828
NM_001655.5(ARCN1):c.1276G>A (p.Asp426Asn) rs781853184
NM_001673.5(ASNS):c.202C>A (p.Pro68Thr) rs1554350554
NM_001673.5(ASNS):c.29G>A (p.Ser10Asn) rs1562823595
NM_001690.4(ATP6V1A):c.1720A>G (p.Met574Val)
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile) rs8192466
NM_001723.7(DST):c.6048+1G>A rs1330945347
NM_001770.6(CD19):c.1042T>C (p.Tyr348His) rs1596717340
NM_001776.6(ENTPD1):c.623C>A (p.Thr208Asn) rs776491594
NM_001783.4(CD79A):c.419C>T (p.Thr140Ile) rs148797987
NM_001793.6(CDH3):c.2305C>A (p.Pro769Thr) rs775268226
NM_001797.4(CDH11):c.1895-599A>T rs2071263125
NM_001814.6(CTSC):c.815G>C (p.Arg272Pro) rs587777534
NM_001848.3(COL6A1):c.850G>A (p.Gly284Arg) rs121912938
NM_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly) rs1568940242
NM_001849.4(COL6A2):c.2329T>C (p.Cys777Arg) rs267606747
NM_001849.4(COL6A2):c.2362C>A (p.Leu788Met) rs1235087612
NM_001849.4(COL6A2):c.531dup (p.Glu178fs) rs2078415221
NM_001849.4(COL6A2):c.954G>T (p.Lys318Asn) rs878854362
NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala) rs1555824129
NM_001866.3(COX7B):c.217A>G (p.Thr73Ala) rs1603367347
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.3701T>A (p.Phe1234Tyr) rs1700804080
NM_001904.4(CTNNB1):c.1014G>A (p.Trp338Ter) rs1454068577
NM_001927.4(DES):c.1151A>G (p.His384Arg) rs1553603566
NM_001966.4(EHHADH):c.1816_1817insG (p.Thr606fs) rs1553775828
NM_001982.4(ERBB3):c.3567AGA[2] (p.Glu1191del) rs780883720
NM_002016.2(FLG):c.5170G>T (p.Gly1724Ter) rs747301529
NM_002016.2(FLG):c.6032_6034del (p.Leu2011del) rs770070270
NM_002016.2(FLG):c.8885del (p.Gln2962fs) rs1570897758
NM_002055.5(GFAP):c.930G>A (p.Met310Ile) rs755602073
NM_002074.5(GNB1):c.34G>A (p.Glu12Lys) rs1570674859
NM_002087.4(GRN):c.1438C>T (p.His480Tyr) rs770058074
NM_002156.5(HSPD1):c.355C>G (p.Leu119Val) rs1398446799
NM_002199.4(IRF2):c.88_89del (p.Glu30fs) rs1554014177
NM_002206.3(ITGA7):c.2182del (p.Ala728fs) rs1565622052
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.158T>C (p.Met53Thr) rs1890589984
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002241.5(KCNJ10):c.922G>C (p.Gly308Arg) rs1557967657
NM_002283.4(KRT85):c.823T>C (p.Ser275Pro) rs1592141626
NM_002291.3(LAMB1):c.2684G>A (p.Cys895Tyr) rs1554406824
NM_002291.3(LAMB1):c.4393G>A (p.Val1465Ile) rs1554402678
NM_002291.3(LAMB1):c.4562T>G (p.Ile1521Ser) rs199646967
NM_002292.4(LAMB2):c.2884+5G>A rs1560073017
NM_002334.4(LRP4):c.3346G>A (p.Glu1116Lys) rs1253557298
NM_002335.4(LRP5):c.1142A>G (p.Asp381Gly) rs886040977
NM_002335.4(LRP5):c.205G>T (p.Asp69Tyr) rs1057519574
NM_002335.4(LRP5):c.4489-2A>G rs1057519575
NM_002335.4(LRP5):c.917G>A (p.Cys306Tyr) rs2098630548
NM_002361.4(MAG):c.1324G>A (p.Val442Met) rs760644405
NM_002414.5(CD99):c.539G>C (p.Arg180Pro) rs150825051
NM_002439.5(MSH3):c.189_190insGCAGCGGCCGCAGCGCCCGCAGCGCCC (p.Pro63_Pro64insAlaAlaAlaAlaAlaProAlaAlaPro) rs1554066076
NM_002454.3(MTRR):c.1379T>G (p.Leu460Ter) rs1554006017
NM_002460.4(IRF4):c.1089G>T (p.Gln363His) rs901736609
NM_002461.3(MVD):c.128T>C (p.Leu43Pro) rs1597381715
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg) rs199513213
NM_002470.4(MYH3):c.4129G>C (p.Glu1377Gln) rs1567553702
NM_002470.4(MYH3):c.4826G>A (p.Arg1609Lys) rs1555525264
NM_002470.4(MYH3):c.605_606insCCTCCTCTGTCCCTACACCTCATACCCCTCCTGGCCCCCGGCGGAGGCCCAGGCCCAGGCATCAGCCCTAACACTCCCTTCTTGCCAGCAGGAGTTCTGTTACGAGATCAAGCA (p.Thr202_Gly203insLeuLeuCysProTyrThrSerTyrProSerTrpProProAlaGluAlaGlnAlaGlnAlaSerAlaLeuThrLeuProSerCysGlnGlnGluPheCysTyrGluIleLysHis)
NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del) rs770925540
NM_002487.3(NDN):c.533G>A (p.Arg178Lys) rs1555376130
NM_002496.4(NDUFS8):c.484G>A (p.Val162Met) rs1277027467
NM_002578.5(PAK3):c.534AGA[4] (p.Glu182del) rs749370794
NM_002582.4(PARN):c.49C>T (p.Gln17Ter) rs1972905468
NM_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys) rs1064794609
NM_002778.4(PSAP):c.778-1889C>T rs1842351095
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002840.5(PTPRF):c.4832G>T (p.Gly1611Val) rs779426523
NM_002860.4(ALDH18A1):c.2231C>G (p.Ser744Trp) rs762271422
NM_002863.5(PYGL):c.298_307del (p.Met100fs) rs1555328280
NM_002872.5(RAC2):c.108-8C>G rs1601672720
NM_002887.4(RARS1):c.2T>C (p.Met1Thr) rs769713780
NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) rs1555475415
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_003038.5(SLC1A4):c.1364+1G>A rs1558529034
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.655+6G>C rs779984246
NM_003060.4(SLC22A5):c.361C>T (p.Gln121Ter) rs1554086010
NM_003060.4(SLC22A5):c.394-141T>C rs1561566541
NM_003070.5(SMARCA2):c.2831C>T (p.Pro944Leu)
NM_003070.5(SMARCA2):c.31C>A (p.Pro11Thr) rs145516397
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His) rs1568422604
NM_003124.4(SPR):c.596del rs1553498582
NM_003172.4(SURF1):c.792_793del (p.Arg264fs) rs782490558
NM_003172.4(SURF1):c.794_795dup (p.Thr266fs) rs1588688823
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
NM_003193.5(TBCE):c.332T>G (p.Val111Gly) rs1553336397
NM_003246.4(THBS1):c.1361G>C (p.Gly454Ala) rs770788788
NM_003334.4(UBA1):c.2830C>T (p.Arg944Cys) rs1556794074
NM_003482.3(KMT2D):c.1893_1919del (p.Asp632_Glu640del) rs759377845
NM_003482.4(KMT2D):c.11717_11752del (p.3900LQQQQQ[1]) rs1415174573
NM_003482.4(KMT2D):c.13818C>G (p.Tyr4606Ter) rs1555187117
NM_003560.4(PLA2G6):c.1547_1548dup (p.Gly517fs) rs1555988204
NM_003560.4(PLA2G6):c.1743-1G>C rs1555979401
NM_003560.4(PLA2G6):c.2248T>C (p.Cys750Arg) rs1569239288
NM_003560.4(PLA2G6):c.834G>C (p.Gln278His) rs1556010444
NM_003560.4(PLA2G6):c.962T>C (p.Leu321Pro) rs1569264087
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003638.3(ITGA8):c.537C>A (p.Ser179Arg) rs748467820
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro) rs1554699019
NM_003673.4(TCAP):c.1A>G (p.Met1Val) rs1567864804
NM_003737.4(DCHS1):c.5821A>G (p.Ser1941Gly) rs1564861778
NM_003737.4(DCHS1):c.7348del (p.Val2450fs) rs1855757730
NM_003741.4(CHRD):c.147del (p.Gly50fs) rs1560294370
NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro) rs1553545883
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn) rs1558909465
NM_003748.4(ALDH4A1):c.658G>C (p.Ala220Pro) rs778113718
NM_003786.4(ABCC3):c.428T>C (p.Leu143Pro) rs1567828794
NM_003805.5(CRADD):c.298+59160del rs1956612435
NM_003816.3(ADAM9):c.639T>G (p.Tyr213Ter) rs1836637522
NM_003850.3(SUCLA2):c.751G>A (p.Asp251Asn) rs397515462
NM_003850.3(SUCLA2):c.815A>T (p.Asp272Val) rs1555256440
NM_003896.4(ST3GAL5):c.479C>A (p.Pro160His) rs1553405319
NM_003900.5(SQSTM1):c.213C>G (p.Asp71Glu) rs780842511
NM_003982.4(SLC7A7):c.1095+2del rs1555320639
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys) rs386833811
NM_003995.4(NPR2):c.2713G>T (p.Val905Leu) rs1357724443
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004006.3(DMD):c.3358G>T (p.Glu1120Ter) rs1569563678
NM_004006.3(DMD):c.4115C>T (p.Ala1372Val) rs759108067
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004070.4(CLCNKA):c.1613G>C (p.Arg538Pro) rs762119830
NM_004070.4(CLCNKA):c.17G>A (p.Gly6Glu) rs773206825
NM_004101.4(F2RL2):c.160del (p.Ser54fs) rs755031524
NM_004130.4(GYG1):c.866G>T (p.Gly289Val) rs1553733613
NM_004153.4(ORC1):c.1964C>T (p.Thr655Ile) rs1569920188
NM_004168.4(SDHA):c.1794+105dup rs1561011159
NM_004177.5(STX3):c.589C>T (p.Arg197Ter) rs746797808
NM_004187.5(KDM5C):c.*129C>T rs1602156447
NM_004260.4(RECQL4):c.1396C>T (p.Pro466Ser) rs562809072
NM_004273.5(CHST3):c.680C>G (p.Ser227Cys) rs1554817549
NM_004309.6(ARHGDIA):c.*65dup rs757131763
NM_004327.4(BCR):c.1034_1036del (p.Phe345del) rs1569234190
NM_004333.6(BRAF):c.1387A>G (p.Ile463Val) rs1562957000
NM_004360.5(CDH1):c.437C>G (p.Ser146Cys) rs751425296
NM_004369.4(COL6A3):c.2277T>G (p.Tyr759Ter) rs1559257971
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
NM_004370.6(COL12A1):c.5288A>G (p.Asn1763Ser) rs755536829
NM_004380.3(CREBBP):c.3061-1G>T rs1555481030
NM_004409.5(DMPK):c.1789G>A (p.Val597Ile) rs1310210930
NM_004409.5(DMPK):c.395C>G (p.Thr132Arg) rs1600444823
NM_004409.5(DMPK):c.931C>T (p.Arg311Ter) rs762280354
NM_004425.4(ECM1):c.1393-1G>T rs1560267428
NM_004429.5(EFNB1):c.749T>G (p.Ile250Ser) rs1569398326
NM_004431.5(EPHA2):c.205G>A (p.Val69Met) rs994302854
NM_004431.5(EPHA2):c.77G>T (p.Gly26Val) rs1557520529
NM_004453.4(ETFDH):c.1325C>T (p.Ser442Leu) rs1442766122
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter) rs122453121
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004522.3(KIF5C):c.1190C>G (p.Pro397Arg) rs1574802637
NM_004522.3(KIF5C):c.1771A>G (p.Ile591Val)
NM_004525.3(LRP2):c.5287C>T (p.Pro1763Ser) rs1559027696
NM_004530.6(MMP2):c.1648C>T (p.Arg550Ter) rs1962580119
NM_004531.5(MOCS2):c.2T>G (p.Met1Arg) rs772575104
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp) rs1555924331
NM_004595.5(SMS):c.13C>G (p.Arg5Gly) rs1921698887
NM_004623.5(TTC4):c.944A>G (p.Asp315Gly) rs1557751181
NM_004629.2(FANCG):c.84+53G>T rs1563987651
NM_004667.6(HERC2):c.6287T>C (p.Leu2096Pro) rs1596251854
NM_004667.6(HERC2):c.6335C>T (p.Ser2112Phe) rs542163867
NM_004667.6(HERC2):c.7707_7708dup (p.Asn2570fs) rs1596207451
NM_004667.6(HERC2):c.9638G>A (p.Gly3213Glu) rs1596133088
NM_004667.6(HERC2):c.9710T>A (p.Leu3237Ter) rs1555415658
NM_004722.4(AP4M1):c.1225T>C (p.Phe409Leu) rs760907496
NM_004827.3(ABCG2):c.419del (p.Leu140fs) rs1553935607
NM_004830.4(MED23):c.670C>G (p.Arg224Gly) rs1293450628
NM_004863.4(SPTLC2):c.1546C>T (p.His516Tyr) rs1555372980
NM_004977.3(KCNC3):c.11_12del (p.Ser4fs) rs1555781806
NM_005013.2(NUCB2):c.-427A>C rs186174
NM_005051.3(QARS1):c.2085-3C>A rs1024765171
NM_005084.4(PLA2G7):c.680_681dup (p.Glu228fs) rs1554182722
NM_005101.4(ISG15):c.247_255del (p.Ser83_Leu85del) rs1644249922
NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) rs767827315
NM_005120.3(MED12):c.6241CAG[7] (p.Gln2086dup) rs786200971
NM_005154.5(USP8):c.2971C>T (p.Arg991Ter) rs2052448846
NM_005198.5(CHKB):c.382G>T (p.Glu128Ter) rs1569054086
NM_005198.5(CHKB):c.860A>C (p.Asp287Ala) rs1569052732
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) rs201433617
NM_005219.5(DIAPH1):c.627C>A (p.Tyr209Ter) rs369494682
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu) rs587783638
NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) rs1413276234
NM_005359.6(SMAD4):c.1308+2T>C rs1555686624
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005502.4(ABCA1):c.4799A>T (p.His1600Leu) rs1554704214
NM_005502.4(ABCA1):c.5347G>T (p.Val1783Leu) rs780534377
NM_005529.7(HSPG2):c.1193G>A (p.Ser398Asn) rs1553171928
NM_005529.7(HSPG2):c.4314+4A>T rs1553166653
NM_005559.4(LAMA1):c.2216G>A (p.Cys739Tyr) rs1555656402
NM_005559.4(LAMA1):c.2663G>T (p.Gly888Val) rs1555654766
NM_005609.4(PYGM):c.1044del (p.Glu349fs) rs1592412131
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005619.5(RTN2):c.938dup (p.Thr314fs) rs748397131
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005660.3(SLC35A2):c.1066_1067insGCCTCT (p.Ala355_Ser356insCysLeu) rs1557042706
NM_005687.5(FARSB):c.853G>A (p.Glu285Lys) rs767956337
NM_005732.4(RAD50):c.3766C>A (p.Arg1256Ser) rs561655417
NM_005763.4(AASS):c.33G>T (p.Arg11Ser) rs780915761
NM_005765.3(ATP6AP2):c.452T>C (p.Leu151Ser)
NM_005866.4(SIGMAR1):c.416G>T (p.Gly139Val) rs1270528470
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) rs1553951373
NM_005956.4(MTHFD1):c.1843_1844dup (p.Met615fs)
NM_005957.5(MTHFR):c.154C>T (p.Arg52Ter) rs986604359
NM_005957.5(MTHFR):c.237G>T (p.Arg79Ser) rs1553187509
NM_005957.5(MTHFR):c.379C>T (p.His127Tyr) rs769381688
NM_005989.4(AKR1D1):c.267G>A (p.Trp89Ter) rs1236669456
NM_005989.4(AKR1D1):c.796C>T (p.Arg266Ter) rs770247815
NM_005993.5(TBCD):c.1537G>A (p.Ala513Thr) rs1567966866
NM_005993.5(TBCD):c.2137C>G (p.His713Asp) rs200903034
NM_006005.3(WFS1):c.330C>A (p.Tyr110Ter) rs1553876668
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) rs530749007
NM_006031.6(PCNT):c.3418CTC[1] (p.Leu1141del) rs759470656
NM_006031.6(PCNT):c.607del (p.His203fs) rs767416279
NM_006059.4(LAMC3):c.2125T>C (p.Cys709Arg) rs1564379378
NM_006073.4(TRDN):c.22+1G>T rs1290195833
NM_006182.4(DDR2):c.2387A>T (p.Gln796Leu) rs1558083144
NM_006218.4(PIK3CA):c.407dup (p.Gln137fs) rs1560137609
NM_006231.4(POLE):c.6757G>C (p.Glu2253Gln) rs376140352
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val) rs1064794719
NM_006277.3(ITSN2):c.4208A>G (p.Asp1403Gly) rs1553340826
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del) rs777476390
NM_006306.4(SMC1A):c.2320G>A (p.Asp774Asn) rs2075680329
NM_006306.4(SMC1A):c.3468T>G (p.Asp1156Glu) rs1556885815
NM_006343.3(MERTK):c.584-1G>T rs1553449458
NM_006348.5(COG5):c.487C>T (p.Gln163Ter) rs1231928102
NM_006397.3(RNASEH2A):c.290C>T (p.Ser97Phe) rs1457758264
NM_006397.3(RNASEH2A):c.746C>A (p.Ala249Glu) rs758719669
NM_006420.3(ARFGEF2):c.3262G>A (p.Val1088Ile) rs1568729284
NM_006424.3(SLC34A2):c.1451C>A (p.Ser484Ter)
NM_006432.5(NPC2):c.157C>T (p.Gln53Ter) rs2086712337
NM_006493.4(CLN5):c.208T>C (p.Cys70Arg) rs1593910113
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.398T>G (p.Met133Arg) rs1419308949
NM_006496.4(GNAI3):c.146T>C (p.Ile49Thr) rs1553223899
NM_006513.4(SARS1):c.950G>A (p.Arg317Gln) rs1412278011
NM_006517.5(SLC16A2):c.1170+4_1170+7del rs1555989846
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys) rs933036653
NM_006517.5(SLC16A2):c.667T>G (p.Tyr223Asp) rs1930457917
NM_006545.5(NPRL2):c.602A>C (p.Asp201Ala) rs202157450
NM_006623.4(PHGDH):c.781G>A (p.Val261Met) rs267606947
NM_006642.5(SDCCAG8):c.1420del (p.Glu474fs) rs397515335
NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr) rs1587706129
NM_006772.3(SYNGAP1):c.1544G>A (p.Arg515His) rs1294935709
NM_006772.3(SYNGAP1):c.1998G>C (p.Glu666Asp) rs1561787401
NM_006796.3(AFG3L2):c.1164+1G>A rs1598832526
NM_006828.4(ASCC3):c.176A>C (p.Glu59Ala) rs757903799
NM_006846.4(SPINK5):c.1712_1714del (p.Arg571del) rs1554105558
NM_006907.4(PYCR1):c.139-3C>G rs1567926235
NM_006940.6(SOX5):c.1050G>C (p.Gln350His) rs1566239985
NM_006949.4(STXBP2):c.1198_1199insGGCCCG (p.Pro399_Ala400insGlyPro) rs1568469885
NM_007055.4(POLR3A):c.2287G>A (p.Ala763Thr) rs755825816
NM_007059.4(KPTN):c.423C>G (p.Phe141Leu) rs927688047
NM_007103.4(NDUFV1):c.731A>T (p.Asn244Ile) rs1235686151
NM_007121.7(NR1H2):c.950G>A (p.Arg317Lys) rs1568595477
NM_007194.4(CHEK2):c.924G>T (p.Glu308Asp) rs1601739269
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007255.3(B4GALT7):c.277dup (p.His93fs) rs879255634
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs) rs80357888
NM_007294.4(BRCA1):c.1568del (p.Leu523fs) rs1555591543
NM_007294.4(BRCA1):c.1684dup (p.Ile562fs) rs2053901114
NM_007294.4(BRCA1):c.2216_2217del (p.Lys739fs) rs80357802
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.2649_2650insGGCA (p.Thr884fs) rs886038003
NM_007294.4(BRCA1):c.2649_2650insGGCT (p.Thr884fs) rs2053722405
NM_007294.4(BRCA1):c.2686dup (p.Ser896fs) rs80357636
NM_007294.4(BRCA1):c.302-1G>A rs80358116
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs) rs80357868
NM_007294.4(BRCA1):c.4097-141A>C rs799916
NM_007294.4(BRCA1):c.4609C>T (p.Gln1537Ter) rs80357229
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu) rs1554770589
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007347.5(AP4E1):c.206C>T (p.Ala69Val) rs1596450585
NM_007347.5(AP4E1):c.2234_2235dup (p.Thr746Ter) rs1555462184
NM_012062.5(DNM1L):c.1255C>T (p.Arg419Trp) rs776779003
NM_012073.5(CCT5):c.267G>C (p.Lys89Asn) rs1554010636
NM_012123.4(MTO1):c.97del (p.Arg33fs) rs1582666067
NM_012233.3(RAB3GAP1):c.429dup (p.Lys144Ter) rs1553444644
NM_012330.4(KAT6B):c.3343A>C (p.Lys1115Gln) rs1845483899
NM_012418.4(FSCN2):c.1226A>G (p.Tyr409Cys) rs1598582453
NM_013254.4(TBK1):c.290T>A (p.Val97Asp) rs1565813507
NM_013275.6(ANKRD11):c.6052_6060del (p.Pro2018_Ala2020del) rs775221712
NM_013296.5(GPSM2):c.1546_1553del (p.Cys516fs) rs1553216524
NM_013382.7(POMT2):c.334-3C>A rs1566658848
NM_013391.3(DMGDH):c.2122G>A (p.Asp708Asn) rs745629468
NM_014049.5(ACAD9):c.1344_1348dup (p.Thr450fs) rs1576347955
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014112.5(TRPS1):c.1043G>T (p.Cys348Phe) rs1554596418
NM_014112.5(TRPS1):c.2503G>A (p.Glu835Lys) rs764414669
NM_014141.6(CNTNAP2):c.97+1G>A rs972116002
NM_014159.7(SETD2):c.3176G>A (p.Ser1059Asn) rs558262802
NM_014226.3(MOK):c.630_631dup (p.Ile211fs) rs769431982
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn) rs1558331190
NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer) rs786205258
NM_014336.5(AIPL1):c.294del (p.Ile99fs) rs1597331616
NM_014362.4(HIBCH):c.452C>T (p.Ser151Leu) rs1553501873
NM_014363.6(SACS):c.10644del (p.Phe3548fs) rs1555250160
NM_014363.6(SACS):c.10813A>T (p.Lys3605Ter) rs1360298758
NM_014363.6(SACS):c.4585C>T (p.Gln1529Ter) rs1555252345
NM_014365.3(HSPB8):c.419C>T (p.Thr140Ile) rs1954680920
NM_014398.4(LAMP3):c.1172_1173del (p.Val391fs) rs1553873737
NM_014467.3(SRPX2):c.1183C>T (p.Gln395Ter) rs771849296
NM_014593.4(CXXC1):c.1574+1G>C rs1568303427
NM_014625.4(NPHS2):c.467dup (p.Leu156fs) rs528833893
NM_014629.4(ARHGEF10):c.3964_3965dup (p.Arg1323fs) rs1563343679
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) rs746252249
NM_014679.5(CEP57):c.1402del (p.Lys467_Leu468insTer) rs1590962541
NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter) rs953298656
NM_014738.6(TMEM94):c.1600C>T (p.Gln534Ter) rs2052296892
NM_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del) rs774299493
NM_014844.5(TECPR2):c.1568del (p.Ser523fs) rs1555451465
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014845.6(FIG4):c.290-2A>G rs587777715
NM_014874.4(MFN2):c.1426C>G (p.Arg476Gly) rs1266361856
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) rs1555437965
NM_014927.5(CNKSR2):c.1734G>A (p.Trp578Ter) rs1569261319
NM_014946.4(SPAST):c.312_317dup (p.104AP[3]) rs747993450
NM_014953.5(DIS3):c.1806G>A (p.Met602Ile) rs1413258245
NM_014956.5(CEP164):c.2562del (p.Met854fs) rs1565582604
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021
NM_015087.5(SPART):c.1450dup (p.Thr484fs) rs730882198
NM_015100.4(POGZ):c.1866_1867dup (p.Tyr623fs) rs1553216467
NM_015100.4(POGZ):c.3727C>G (p.Leu1243Val)
NM_015114.3(ANKLE2):c.1060G>A (p.Val354Met) rs117750374
NM_015120.4(ALMS1):c.54_77del (p.Glu22_Glu29del) rs55889738
NM_015166.4(MLC1):c.404T>C (p.Leu135Pro) rs1258044054
NM_015192.4(PLCB1):c.1940G>T (p.Gly647Val) rs1555786704
NM_015214.3(DDHD2):c.1528G>A (p.Gly510Arg) rs1563311817
NM_015294.6(TRIM37):c.2036A>C (p.Lys679Thr) rs1568017495
NM_015335.5(MED13L):c.601C>G (p.Gln201Glu)
NM_015335.5(MED13L):c.752A>G (p.Glu251Gly) rs28940309
NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del) rs752856195
NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del) rs1203207717
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu) rs201376188
NM_015386.3(COG4):c.73G>T (p.Gly25Ter) rs1249789100
NM_015404.4(WHRN):c.1469G>A (p.Arg490His) rs587776360
NM_015426.5(POC1A):c.836T>G (p.Phe279Cys) rs1559836324
NM_015443.4(KANSL1):c.1648A>G (p.Asn550Asp) rs1555746270
NM_015559.3(SETBP1):c.4771G>A (p.Glu1591Lys) rs759235645
NM_015634.4(KIFBP):c.976C>T (p.Gln326Ter) rs1293340864
NM_015662.3(IFT172):c.3475G>T (p.Glu1159Ter) rs748244135
NM_015665.5(AAAS):c.936_937delAG rs1592513048
NM_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
NM_015915.5(ATL1):c.1111dup (p.Met371fs) rs1566733927
NM_015937.6(PIGT):c.347T>A (p.Phe116Tyr) rs534024741
NM_015937.6(PIGT):c.602T>C (p.Leu201Pro) rs1555876854
NM_016006.6(ABHD5):c.344G>A (p.Ser115Asn) rs1559412343
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys) rs1163170578
NM_016121.5(KCTD3):c.237del (p.Thr80fs) rs1558228402
NM_016138.5(COQ7):c.9C>A (p.Cys3Ter) rs369616615
NM_016173.5(HEMK1):c.770+2T>C rs1429859720
NM_016218.6(POLK):c.410C>T (p.Ser137Phe) rs863225454
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs) rs750130520
NM_016284.5(CNOT1):c.4434+183dup rs5817153
NM_016327.3(UPB1):c.1099C>G (p.Arg367Gly) rs542324398
NM_016614.3(TDP2):c.4G>T (p.Glu2Ter) rs770844602
NM_016628.5(WAC):c.1746+1G>A rs1554791975
NM_016648.4(LARP7):c.552+31A>G rs1554011434
NM_016734.3(PAX5):c.435G>C (p.Gln145His) rs758368747
NM_016938.5(EFEMP2):c.481G>A (p.Glu161Lys) rs761656636
NM_017433.5(MYO3A):c.1716C>A (p.Phe572Leu) rs751693978
NM_017547.4(FOXRED1):c.209G>C (p.Gly70Ala) rs1950986906
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_017565.4(FAM20A):c.885del (p.Thr296fs) rs1568724130
NM_017570.5(OPLAH):c.3352G>C (p.Glu1118Gln) rs1426386645
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017613.4(DONSON):c.1563+1G>T rs534299298
NM_017654.4(SAMD9):c.2159del (p.Asn720fs) rs753146043
NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr) rs778749748
NM_017654.4(SAMD9):c.2470C>T (p.Arg824Ter) rs1186536794
NM_017662.5(TRPM6):c.5104del (p.Ser1702fs) rs1825954906
NM_017668.3(NDE1):c.940G>C (p.Asp314His) rs1567660670
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys) rs1568405628
NM_017739.4(POMGNT1):c.1161G>T (p.Lys387Asn) rs1571656916
NM_017739.4(POMGNT1):c.355-3T>G rs1553163972
NM_017780.4(CHD7):c.3710A>T (p.Asn1237Ile) rs775459114
NM_017780.4(CHD7):c.8278AATCTCCAG[1] (p.2760NLQ[1]) rs747665912
NM_017882.3(CLN6):c.185G>A (p.Arg62His) rs751486476
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu) rs919850756
NM_017934.7(PHIP):c.705T>G (p.Tyr235Ter) rs1562189451
NM_018006.5(TRMU):c.844A>G (p.Lys282Glu) rs1441777972
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu) rs747014267
NM_018082.6(POLR3B):c.2013dup (p.Ile672fs) rs2037697286
NM_018082.6(POLR3B):c.3301G>A (p.Val1101Met) rs1368448476
NM_018122.5(DARS2):c.20T>A (p.Leu7Ter) rs1553200766
NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu) rs1553223646
NM_018136.5(ASPM):c.6639_6642del (p.Lys2213_Lys2214insTer) rs1334301723
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter) rs763909256
NM_018238.4(AGK):c.223A>G (p.Lys75Glu) rs1376867262
NM_018249.6(CDK5RAP2):c.5152del (p.Leu1718fs) rs2033156861
NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr) rs773402627
NM_018341.3(ERMARD):c.1072del (p.Asp358fs) rs1371239720
NM_018344.6(SLC29A3):c.122del (p.Pro41fs) rs749946303
NM_018367.7(ACER3):c.607C>T (p.Arg203Ter) rs782709009
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_018668.5(VPS33B):c.151C>T (p.Arg51Ter) rs11542638
NM_018684.4(ZC4H2):c.375AGA[1] (p.Glu128del) rs750367160
NM_018706.7(DHTKD1):c.1573G>A (p.Gly525Ser) rs1588612342
NM_018706.7(DHTKD1):c.467dup (p.Thr157fs) rs1554791360
NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln) rs1260560600
NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro) rs1555565684
NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu) rs1567964995
NM_018941.4(CLN8):c.46C>A (p.Leu16Met) rs386834129
NM_018979.4(WNK1):c.2187G>A (p.Gly729=) rs759764709
NM_019023.5(PRMT7):c.1949A>G (p.Tyr650Cys) rs1033540334
NM_019842.4(KCNQ5):c.1501G>A (p.Asp501Asn) rs1582480404
NM_019892.6(INPP5E):c.1034+3A>T rs1564433976
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr) rs1463766241
NM_020166.5(MCCC1):c.794A>G (p.His265Arg) rs759707763
NM_020247.5(COQ8A):c.1396del (p.Glu466fs) rs1553280621
NM_020366.4(RPGRIP1):c.3467_3468insCT (p.Thr1156_Glu1157insTer) rs776698746
NM_020366.4(RPGRIP1):c.3617+1G>A rs771116776
NM_020376.4(PNPLA2):c.1430C>T (p.Pro477Leu) rs142588621
NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs) rs782439454
NM_020435.4(GJC2):c.193_195del (p.Asn65del) rs1558119525
NM_020442.6(VARS2):c.1637A>T (p.Glu546Val) rs761726567
NM_020442.6(VARS2):c.3020A>G (p.Gln1007Arg) rs773482888
NM_020442.6(VARS2):c.3098C>T (p.Ser1033Phe) rs1562465419
NM_020461.4(TUBGCP6):c.4562G>A (p.Arg1521Gln) rs748632851
NM_020632.3(ATP6V0A4):c.1904A>C (p.His635Pro) rs1554393418
NM_020655.4(JPH3):c.955C>T (p.Arg319Trp) rs148131421
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val) rs1554969894
NM_020708.5(SLC12A5):c.2545A>G (p.Lys849Glu) rs1568867619
NM_020717.5(SHROOM4):c.2672G>T (p.Ser891Ile) rs1569546782
NM_020751.3(COG6):c.1138CTC[1] (p.Leu381del) rs756077038
NM_020751.3(COG6):c.1746+2T>G rs1555280464
NM_020779.4(WDR35):c.2874G>T (p.Lys958Asn) rs1558328135
NM_020812.4(DOCK6):c.4824_4828del (p.Glu1609fs) rs1555826472
NM_020822.3(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020919.4(ALS2):c.4382G>T (p.Arg1461Leu) rs758889641
NM_020928.2(ZSWIM6):c.2491G>C (p.Glu831Gln)
NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del) rs772099709
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val) rs886041766
NM_020988.3(GNAO1):c.448A>C (p.Asn150His) rs2037660713
NM_020998.4(MST1):c.55C>T (p.Pro19Ser) rs62262686
NM_021072.4(HCN1):c.1201G>C (p.Asp401His) rs587777491
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser) rs1561081327
NM_021252.5(RAB18):c.549del (p.Gly184fs) rs1834935337
NM_021267.5(CERS1):c.274C>T (p.Gln92Ter) rs561672108
NM_021628.3(ALOXE3):c.1252G>T (p.Ala418Ser) rs1979916239
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_021939.4(FKBP10):c.976del (p.Met326fs) rs869025223
NM_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly) rs1554007320
NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp) rs1554007926
NM_021971.4(GMPPB):c.951+28_951+29insGGGGGGGGGC rs2080417973
NM_022041.4(GAN):c.314T>C (p.Val105Ala) rs761334418
NM_022095.4(ZNF335):c.235C>T (p.Pro79Ser) rs768996558
NM_022114.4(PRDM16):c.3208G>A (p.Asp1070Asn) rs867029514
NM_022117.4(TSPYL2):c.520GATGAG[2] (p.174DE[2]) rs782085354
NM_022124.6(CDH23):c.2410G>A (p.Asp804Asn) rs1554857840
NM_022124.6(CDH23):c.4104+15del rs1839422034
NM_022124.6(CDH23):c.8239del (p.Val2747fs) rs1554877007
NM_022132.5(MCCC2):c.440C>T (p.Pro147Leu) rs1474201425
NM_022168.4(IFIH1):c.1738C>T (p.Gln580Ter) rs774888783
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.2459G>C (p.Arg820Pro) rs74162087
NM_022168.4(IFIH1):c.3020C>A (p.Pro1007His) rs1690942194
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_022336.4(EDAR):c.1024+16del rs3833574
NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) rs121908453
NM_022336.4(EDAR):c.278G>C (p.Cys93Ser) rs1553448320
NM_022336.4(EDAR):c.731-62T>C rs535840595
NM_022356.4(P3H1):c.646_650del (p.Tyr216fs) rs1553143142
NM_022369.4(STRA6):c.438G>A (p.Trp146Ter) rs2073766224
NM_022454.4(SOX17):c.456G>C (p.Glu152Asp) rs1554579184
NM_022455.5(NSD1):c.7352G>C (p.Arg2451Thr) rs200115665
NM_022455.5(NSD1):c.7976C>T (p.Ala2659Val) rs1562312270
NM_022481.6(ARAP3):c.3805C>T (p.Arg1269Trp) rs539283748
NM_022773.4(LMF1):c.291C>G (p.Tyr97Ter) rs1237709439
NM_022835.3(PLEKHG2):c.1042A>G (p.Lys348Glu) rs1600652197
NM_022915.5(MRPL44):c.800T>A (p.Leu267Ter) rs1574796091
NM_023067.4(FOXL2):c.843_859dup (p.Pro287fs) rs672601359
NM_023110.3(FGFR1):c.91+1G>A rs1563626890
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024312.5(GNPTAB):c.100G>C (p.Ala34Pro) rs1555277061
NM_024312.5(GNPTAB):c.3250-2A>G rs875989952
NM_024408.4(NOTCH2):c.1957C>A (p.Pro653Thr) rs1553198769
NM_024537.4(CARS2):c.1629A>C (p.Arg543Ser) rs1594195081
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg) rs761184149
NM_024589.3(ROGDI):c.319C>G (p.Gln107Glu) rs1211419981
NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp) rs1585816128
NM_024607.4(PPP1R3B):c.518C>T (p.Thr173Ile) rs984779373
NM_024652.6(LRRK1):c.2785G>T (p.Glu929Ter) rs766875506
NM_024678.6(NARS2):c.10del (p.Val4fs) rs1555047651
NM_024678.6(NARS2):c.1306C>G (p.Arg436Gly) rs751383065
NM_024740.2(ALG9):c.1173+2T>A rs786205134
NM_024769.5(CLMP):c.664C>T (p.Arg222Ter) rs587776966
NM_024824.5(ZC3H14):c.1424C>T (p.Ser475Phe) rs370546299
NM_024830.5(LPCAT1):c.1235G>T (p.Cys412Phe) rs587776361
NM_024854.5(PYROXD1):c.1004_1006del (p.Gly335del) rs1565554407
NM_024919.6(FRMD1):c.508G>T (p.Val170Leu) rs199740559
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp) rs1457240197
NM_024989.4(PGAP1):c.776T>G (p.Leu259Ter) rs1702534679
NM_024996.7(GFM1):c.395A>C (p.Glu132Ala) rs1553847587
NM_025099.6(CTC1):c.3358C>T (p.Gln1120Ter) rs1986946690
NM_025114.4(CEP290):c.1419_1423del (p.Ile474fs) rs771266705
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr) rs1595283708
NM_025215.6(PUS1):c.813del (p.Phe272fs) rs1566148136
NM_030632.3(ASXL3):c.4066A>G (p.Ser1356Gly) rs1568365522
NM_030632.3(ASXL3):c.5587_5598del (p.Ser1863_Ser1866del) rs2067762952
NM_030653.4(DDX11):c.2017G>T (p.Glu673Ter) rs1946297931
NM_030653.4(DDX11):c.2457+1G>T rs745501673
NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) rs1334778982
NM_030787.4(CFHR5):c.993C>A (p.Cys331Ter) rs751010317
NM_030954.4(RNF170):c.304T>C (p.Cys102Arg) rs1183403793
NM_031372.4(HNRNPDL):c.1012C>T (p.Arg338Cys) rs1553900864
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met) rs1569473370
NM_031433.4(MFRP):c.1250del (p.Thr417fs) rs1950517316
NM_031448.6(C19orf12):c.371dup (p.Met124fs) rs1568326754
NM_031844.3(HNRNPU):c.133G>C (p.Glu45Gln) rs1680938345
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs) rs779453109
NM_032043.3(BRIP1):c.848G>A (p.Cys283Tyr) rs771096783
NM_032119.4(ADGRV1):c.16523_16525dup (p.Val5508dup) rs1561814642
NM_032119.4(ADGRV1):c.6952G>T (p.Val2318Phe) rs1338945655
NM_032383.5(HPS3):c.2739_2742del (p.Glu913fs) rs1277509410
NM_032520.4(GNPTG):c.499dup (p.Leu167Profs) rs756959430
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) rs1569172839
NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp) rs1568989210
NM_032634.4(PIGO):c.1851_1866del (p.Asn617fs) rs1829446449
NM_032634.4(PIGO):c.835G>A (p.Gly279Arg) rs1829532392
NM_032656.4(DHX37):c.2453G>A (p.Arg818Lys) rs1594477300
NM_032918.3(RERG):c.250T>C (p.Tyr84His) rs1555118541
NM_032974.5(CASP10):c.1427T>G (p.Phe476Cys) rs1559320359
NM_032977.4(CASP10):c.422C>A (p.Ser141Ter) rs780552445
NM_033004.4(NLRP1):c.790del (p.Cys264fs) rs1597460588
NM_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_033056.4(PCDH15):c.5029_5032dup (p.Ser1678fs) rs773160902
NM_033056.4(PCDH15):c.5659A>T (p.Lys1887Ter) rs2076305143
NM_033087.4(ALG2):c.218_225del (p.Asp73fs) rs1828806280
NM_033305.3(VPS13A):c.3499_3503del (p.Ser1167fs) rs1827795601
NM_033305.3(VPS13A):c.904C>T (p.Leu302Phe) rs541051874
NM_033419.5(PGAP3):c.432+1G>A rs1555610241
NM_033453.4(ITPA):c.489-1G>T
NM_033629.6(TREX1):c.243_246del (p.Ser82fs) rs2040335386
NM_052867.4(NALCN):c.2648G>T (p.Gly883Val) rs746926466
NM_052867.4(NALCN):c.3269G>A (p.Trp1090Ter) rs1555379886
NM_052867.4(NALCN):c.410C>T (p.Ser137Leu) rs1555343688
NM_052867.4(NALCN):c.5188G>A (p.Glu1730Lys) rs1566761140
NM_052905.4(FMNL2):c.1673_1674insA (p.Pro560fs) rs3080632
NM_080680.3(COL11A2):c.2754del (p.Gly919fs) rs1562336726
NM_080680.3(COL11A2):c.3662C>T (p.Pro1221Leu) rs1562323483
NM_080704.4(TRPV1):c.63C>A (p.Cys21Ter) rs1567672200
NM_080860.4(RSPH1):c.315C>G (p.Tyr105Ter) rs144037391
NM_080864.4(RLN3):c.287C>A (p.Ser96Ter) rs1425553674
NM_080916.3(DGUOK):c.155C>G (p.Ser52Cys) rs1204316787
NM_130797.4(DPP6):c.1388T>C (p.Ile463Thr) rs1554471895
NM_130797.4(DPP6):c.1714+1G>T rs1563285184
NM_133379.5(TTN):c.11016T>A (p.Tyr3672Ter) rs762962308
NM_133379.5(TTN):c.14304dup (p.Ala4769fs) rs1454950897
NM_133433.4(NIPBL):c.1435C>G (p.Arg479Gly) rs1554015303
NM_133433.4(NIPBL):c.6534_6535del (p.Met2178fs)
NM_133433.4(NIPBL):c.6769A>G (p.Lys2257Glu) rs947067048
NM_134261.3(RORA):c.17C>T (p.Ala6Val) rs1596088862
NM_138395.4(MARS2):c.341G>T (p.Cys114Phe) rs1574775353
NM_138395.4(MARS2):c.799C>T (p.Pro267Ser) rs1574775779
NM_138615.3(DHX30):c.1867C>A (p.Leu623Ile) rs1576518614
NM_138927.4(SON):c.2076TAC[1] (p.Thr694del) rs1601261295
NM_139058.3(ARX):c.1253C>G (p.Pro418Arg) rs2048682725
NM_144499.3(GNAT1):c.488A>C (p.Tyr163Ser) rs1559746613
NM_144670.6(A2ML1):c.1218del (p.Gly407fs) rs1555109581
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val) rs764347046
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg) rs1567391195
NM_144772.3(NAXE):c.326dup (p.Thr110fs) rs779820587
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_145064.3(STAC3):c.560T>A (p.Met187Lys) rs1461373398
NM_145064.3(STAC3):c.82C>T (p.Gln28Ter) rs2037842612
NM_145207.3(AFG2A):c.2405G>A (p.Arg802Lys) rs1741466672
NM_145261.4(DNAJC19):c.62A>T (p.Tyr21Phe) rs752913622
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del) rs1553621315
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152328.5(ADSS1):c.36dup (p.Gly13fs) rs781559734
NM_152416.4(NDUFAF6):c.719G>T (p.Gly240Val) rs762620949
NM_152419.3(HGSNAT):c.1048C>T (p.Gln350Ter) rs752939204
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs) rs1563509743
NM_152564.5(VPS13B):c.11411dup (p.Leu3805fs) rs1588810676
NM_152564.5(VPS13B):c.4609_4610del (p.Glu1537fs) rs1554826615
NM_152564.5(VPS13B):c.6578_6579insTA (p.Trp2193fs) rs1554922054
NM_152564.5(VPS13B):c.6856C>T (p.Gln2286Ter) rs1833092121
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe) rs1588761583
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216
NM_152743.4(BRAT1):c.398A>G (p.His133Arg)
NM_153033.5(KCTD7):c.677G>C (p.Cys226Ser) rs1554300943
NM_153610.5(CMYA5):c.11555+1G>T rs113278131
NM_153704.6(TMEM67):c.1676C>G (p.Thr559Arg) rs1563470521
NM_153811.3(SLC38A6):c.323A>G (p.Tyr108Cys) rs181093232
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) rs936843937
NM_170606.3(KMT2C):c.2657G>A (p.Arg886His) rs112773078
NM_170707.4(LMNA):c.1620G>A (p.Met540Ile) rs483352811
NM_170707.4(LMNA):c.59C>T (p.Pro20Leu) rs1553261858
NM_170707.4(LMNA):c.703C>A (p.Arg235Ser) rs201227908
NM_170707.4(LMNA):c.727G>T (p.Asp243Tyr) rs1165819867
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val) rs587777219
NM_172250.3(MMAA):c.1229T>A (p.Leu410Ter) rs1728203978
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
NM_172250.3(MMAA):c.664A>G (p.Arg222Gly) rs920825350
NM_172250.3(MMAA):c.970G>A (p.Val324Ile) rs1010220185
NM_172362.3(KCNH1):c.1034G>C (p.Gly345Ala) rs1558526097
NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp) rs1566996154
NM_173660.5(DOK7):c.626C>T (p.Pro209Leu) rs902286336
NM_174912.4(FAAH2):c.267_275+2del rs1555959573
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp) rs963383651
NM_176787.5(PIGN):c.310G>C (p.Gly104Arg) rs1555696900
NM_176787.5(PIGN):c.377T>C (p.Leu126Pro) rs1599653706
NM_176795.5(HRAS):c.500dup (p.Pro169fs) rs35613389
NM_176806.4(MOCS2):c.134A>C (p.His45Pro) rs1561177917
NM_176824.3(BBS7):c.880G>C (p.Gly294Arg) rs1726157542
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177924.5(ASAH1):c.592G>A (p.Val198Ile) rs151320126
NM_178012.5(TUBB2B):c.1105G>T (p.Gly369Cys) rs1581525702
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter) rs1221939030
NM_181523.3(PIK3R1):c.911C>T (p.Ala304Val) rs1554049827
NM_181581.3(DUS4L):c.-349_-348insGGCCC rs1584977236
NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val) rs1554126530
NM_181705.4(LYRM7):c.214C>G (p.Gln72Glu) rs869025604
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1]) rs1555801137
NM_181882.3(PRX):c.4050del (p.Ser1351fs) rs766124869
NM_181882.3(PRX):c.979del (p.Asp327fs) rs1568708792
NM_182476.3(COQ6):c.1256A>C (p.His419Pro) rs1180320611
NM_182641.4(BPTF):c.1979A>G (p.Lys660Arg) rs2061144291
NM_182760.4(SUMF1):c.392T>G (p.Val131Gly) rs1703021709
NM_182760.4(SUMF1):c.542T>G (p.Leu181Ter) rs1553575867
NM_182914.3(SYNE2):c.11900T>G (p.Phe3967Cys) rs1567266829
NM_182914.3(SYNE2):c.12037A>T (p.Asn4013Tyr) rs1555478028
NM_182914.3(SYNE2):c.12609+1G>T rs745516407
NM_182914.3(SYNE2):c.17557G>C (p.Glu5853Gln) rs1158170304
NM_182914.3(SYNE2):c.20654C>G (p.Thr6885Ser) rs1596340525
NM_182914.3(SYNE2):c.8272C>T (p.Pro2758Ser) rs771389608
NM_182961.4(SYNE1):c.11083-4A>G rs764920428
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro) rs1593394821
NM_182961.4(SYNE1):c.13828G>C (p.Glu4610Gln) rs1590224228
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) rs1554768095
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.18012+1G>T rs1562842409
NM_182961.4(SYNE1):c.23461-1G>A rs1586909309
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.3023G>A (p.Trp1008Ter) rs1564136499
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676
NM_182961.4(SYNE1):c.434T>A (p.Leu145His) rs755531859
NM_182961.4(SYNE1):c.5098C>T (p.Gln1700Ter) rs1563941569
NM_183065.4(TMEM107):c.*755C>T rs75008470
NM_183357.3(ADCY5):c.100G>C (p.Glu34Gln) rs1559883468
NM_183357.3(ADCY5):c.1368G>A (p.Met456Ile) rs1286137967
NM_183357.3(ADCY5):c.1750G>A (p.Val584Ile) rs1941613094
NM_183357.3(ADCY5):c.575_580dup (p.Asp192_Ser193dup) rs1553751196
NM_194279.4(ISCA2):c.355G>A (p.Ala119Thr) rs1595231072
NM_194293.4(XIRP1):c.352G>A (p.Val118Met) rs115823205
NM_198129.4(LAMA3):c.4246G>A (p.Val1416Met) rs77331026
NM_198239.2(CCN6):c.740_741del (p.Cys247fs) rs727503755
NM_201253.3(CRB1):c.2389T>C (p.Ser797Pro) rs1355198242
NM_201384.3(PLEC):c.1685A>G (p.His562Arg) rs1554718277
NM_201384.3(PLEC):c.983A>C (p.Glu328Ala) rs1564148072
NM_201525.4(ADGRG1):c.1148C>A (p.Thr383Asn) rs1305914929
NM_203290.4(POLR1C):c.110A>G (p.Asp37Gly) rs1004141332
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_203446.3(SYNJ1):c.1918_1921del (p.Val640fs) rs1488690709
NM_205836.3(FBXO38):c.2075C>T (p.Pro692Leu) rs1581280139
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
NM_206933.4(USH2A):c.8271T>G (p.Tyr2757Ter) rs1571774019
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_207111.4(RNF216):c.202-1G>C rs1562451985
NM_207122.2(EXT2):c.571A>G (p.Met191Val) rs1324170921
NM_207361.6(FREM2):c.5503G>A (p.Ala1835Thr) rs767743882
NM_213599.3(ANO5):c.1078T>C (p.Cys360Arg) rs1554929292
NM_213599.3(ANO5):c.1693_1715del (p.Phe565fs) rs1554931773
NM_213655.5(WNK1):c.2172dup (p.Pro725fs) rs910119961
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943
NR_027928.2(CHKB-CPT1B):n.772_780del rs1603443745

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