ClinVar Miner

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

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ClinVar version:
Total variants: 1256
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HGVS dbSNP gnomAD frequency
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_005013.2(NUCB2):c.-406C>G rs214088 0.62041
NM_006620.3(HBS1L):c.-380A>C rs28384513 0.31338
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000506.5(F2):c.*97G>A rs1799963 0.00979
NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter) rs200988634 0.00927
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val) rs114137750 0.00844
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
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_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_001082.5(CYP4F2):c.648-7C>A rs3093221 0.00504
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
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_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_001330360.2(POLA1):c.3622G>C (p.Asp1208His) rs41548013 0.00404
NM_001067.4(TOP2A):c.1737+5G>A rs140672916 0.00360
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_001386125.1(OBSCN):c.35T>A (p.Phe12Tyr) rs191837710 0.00322
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001256007.3(PNPLA8):c.559C>T (p.Arg187Cys) rs139626312 0.00311
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val) rs191830054 0.00256
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_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
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_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_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) rs142295786 0.00150
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00149
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
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_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903 0.00124
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_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
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_022089.4(ATP13A2):c.2836A>T (p.Ile946Phe) rs55708915 0.00091
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg) rs768071555 0.00090
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_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_030962.4(SBF2):c.5014_5016del (p.Lys1672del) rs750958357 0.00065
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_001130144.3(LTBP3):c.989C>T (p.Pro330Leu) rs28403592 0.00056
NM_004366.6(CLCN2):c.1795G>A (p.Asp599Asn) rs141242566 0.00056
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582 0.00054
NM_001177316.2(SLC34A3):c.1453C>T (p.Arg485Cys) rs145029982 0.00052
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_012123.4(MTO1):c.1129+246G>A rs118010902 0.00049
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947 0.00048
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_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
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_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_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_001042432.2(CLN3):c.242C>T (p.Pro81Leu) rs137906617 0.00029
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr) rs147157374 0.00029
NM_014845.6(FIG4):c.834A>T (p.Lys278Asn) rs138048706 0.00029
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_000359.3(TGM1):c.281G>A (p.Gly94Asp) rs121918729 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_001142864.4(PIEZO1):c.3000C>A (p.Phe1000Leu) rs568280615 0.00021
NM_001171.6(ABCC6):c.2247+22T>G rs72664298 0.00021
NM_002972.4(SBF1):c.1918G>C (p.Glu640Gln) rs199783239 0.00021
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys) rs201299366 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_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_000322.5(PRPH2):c.367C>T (p.Arg123Trp) rs563581127 0.00019
NM_000338.3(SLC12A1):c.724+547C>T rs377680472 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_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_014813.3(LRIG2):c.1696C>T (p.His566Tyr) rs201013312 0.00016
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 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_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
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_003124.5(SPR):c.628C>T (p.Arg210Trp) rs200845457 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_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_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_000310.4(PPT1):c.329A>G (p.Asn110Ser) rs142894102 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_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_001130987.2(DYSF):c.4874G>A (p.Arg1625Gln) rs538781815 0.00009
NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser) rs145285434 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.457C>T (p.Arg153Trp) rs199906865 0.00009
NM_001163435.3(TBCK):c.1804G>A (p.Ala602Thr) rs150221832 0.00008
NM_002241.5(KCNJ10):c.1042C>T (p.Arg348Cys) rs137853074 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_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_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_001126108.2(SLC12A3):c.694G>A (p.Ala232Thr) rs201318038 0.00006
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys) rs755994602 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_001414.4(EIF2B1):c.389A>G (p.Tyr130Cys) rs754044114 0.00006
NM_001848.3(COL6A1):c.2911G>A (p.Val971Met) rs769795690 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_004070.4(CLCNKA):c.55C>T (p.Gln19Ter) rs202069201 0.00006
NM_006623.4(PHGDH):c.706C>T (p.Arg236Cys) rs147066269 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_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_001135998.3(NDUFB11):c.359G>A (p.Arg120His) rs782753177 0.00005
NM_001256545.2(MEGF10):c.2330G>A (p.Arg777His) rs565304206 0.00005
NM_001365536.1(SCN9A):c.1135A>G (p.Met379Val) rs544004654 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_004958.4(MTOR):c.743C>T (p.Thr248Ile) rs377679898 0.00005
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln) rs104895051 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_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_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 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_000441.2(SLC26A4):c.1263+1841G>A rs771059036 0.00004
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln) rs373240866 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_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala) rs755371528 0.00004
NM_001171.6(ABCC6):c.790C>T (p.Arg264Trp) rs376409933 0.00004
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His) rs368572799 0.00004
NM_001358263.1(HK1):c.4G>A (p.Gly2Arg) rs766565453 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_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_003602.5(FKBP6):c.101G>A (p.Gly34Glu) rs782285165 0.00004
NM_004278.4(PIGL):c.263G>A (p.Arg88His) rs755380500 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_005529.7(HSPG2):c.6634G>A (p.Asp2212Asn) rs780545355 0.00004
NM_005891.3(ACAT2):c.526G>A (p.Glu176Lys) rs371307389 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_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_182961.4(SYNE1):c.13331G>A (p.Arg4444Gln) rs139075013 0.00004
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718 0.00003
NM_000147.5(FUCA1):c.923G>A (p.Arg308His) rs372537257 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_000387.6(SLC25A20):c.425C>G (p.Ala142Gly) rs759262977 0.00003
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) rs375640462 0.00003
NM_000487.6(ARSA):c.931G>A (p.Gly311Ser) rs74315459 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_001110556.2(FLNA):c.20G>C (p.Arg7Pro) rs781814342 0.00003
NM_001142864.4(PIEZO1):c.3107G>A (p.Arg1036His) rs769506340 0.00003
NM_001159773.2(CANT1):c.551C>T (p.Thr184Met) rs770371904 0.00003
NM_001171613.2(PREPL):c.1420G>A (p.Val474Met) rs780954540 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_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_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_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_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_015166.4(MLC1):c.1087G>A (p.Asp363Asn) rs779971307 0.00003
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys) rs371984550 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_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_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_145207.3(AFG2A):c.2456T>C (p.Val819Ala) rs149604630 0.00003
NM_147127.5(EVC2):c.2359C>T (p.Arg787Trp) rs776830520 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_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 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_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.6743G>A (p.Arg2248His) rs140152019 0.00002
NM_000540.3(RYR1):c.844C>T (p.Arg282Trp) rs1057518970 0.00002
NM_001012339.3(DNAJC21):c.983+1G>A rs368148362 0.00002
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter) rs750355652 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_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile) rs782458308 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_001429.4(EP300):c.6437C>A (p.Pro2146His) rs745528077 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_004044.7(ATIC):c.548C>A (p.Ala183Glu) rs761526509 0.00002
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865 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_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.480A>G (p.Ile160Met) rs575910805 0.00002
NM_012216.4(MID2):c.491G>A (p.Arg164His) rs778859599 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_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_015100.4(POGZ):c.1426C>T (p.Arg476Trp) rs267598016 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.344G>A (p.Arg115Gln) rs781240948 0.00002
NM_020320.5(RARS2):c.1405C>T (p.Arg469Cys) rs767150990 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_020822.3(KCNT1):c.2044C>T (p.Arg682Trp) rs750994724 0.00002
NM_022082.4(SLC17A9):c.931C>T (p.Arg311Trp) rs368854989 0.00002
NM_025152.3(NUBPL):c.625A>T (p.Thr209Ser) rs554414788 0.00002
NM_030962.4(SBF2):c.3935G>A (p.Arg1312Gln) rs768571931 0.00002
NM_138701.4(MPLKIP):c.494G>T (p.Ser165Ile) rs778910338 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_198576.4(AGRN):c.2338G>A (p.Ala780Thr) rs540467706 0.00002
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_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000059.4(BRCA2):c.8117A>G (p.Asn2706Ser) rs80359055 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_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_000159.4(GCDH):c.826G>T (p.Val276Leu) rs763300541 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_000193.4(SHH):c.1147G>A (p.Ala383Thr) rs137853341 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_000260.4(MYO7A):c.3491G>A (p.Arg1164Gln) rs782350886 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_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_000400.4(ERCC2):c.1195C>T (p.Leu399Phe) rs551211003 0.00001
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His) rs578183193 0.00001
NM_000463.3(UGT1A1):c.1567C>T (p.Arg523Ter) rs770564267 0.00001
NM_000492.4(CFTR):c.416A>C (p.His139Pro) rs76371115 0.00001
NM_000540.3(RYR1):c.326G>A (p.Arg109Gln) rs762278203 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_001038.6(SCNN1A):c.1451A>G (p.Tyr484Cys) rs1565475355 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_001137601.3(ZBTB42):c.1031C>T (p.Ser344Leu) rs1368607213 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_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_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.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_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_002016.2(FLG):c.10324A>T (p.Arg3442Ter) rs764094665 0.00001
NM_002161.6(IARS1):c.1358G>A (p.Arg453His) rs570962385 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.3527C>T (p.Ser1176Leu) rs776031396 0.00001
NM_002929.3(GRK1):c.92G>A (p.Arg31Gln) rs1243049516 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_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_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_004204.5(PIGQ):c.1345G>A (p.Gly449Arg) rs1361495767 0.00001
NM_004268.5(MED17):c.1898G>A (p.Arg633Gln) rs1356392449 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_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_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_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_005787.6(ALG3):c.1024C>A (p.Leu342Ile) rs568371168 0.00001
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp) rs138808270 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_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_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_012265.3(RHBDD3):c.238C>T (p.Gln80Ter) rs1446100794 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_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_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys) rs774307423 0.00001
NM_015335.5(MED13L):c.3518G>T (p.Gly1173Val) rs773730403 0.00001
NM_015443.4(KANSL1):c.881T>C (p.Ile294Thr) rs747048362 0.00001
NM_015884.4(MBTPS2):c.529A>C (p.Ile177Leu) rs766760741 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_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_018010.4(IFT57):c.1168A>G (p.Met390Val) rs1168796234 0.00001
NM_018136.5(ASPM):c.2792G>A (p.Arg931Gln) rs764854489 0.00001
NM_018489.3(ASH1L):c.8156G>A (p.Arg2719His) rs375304383 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_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_020632.3(ATP6V0A4):c.1346G>A (p.Arg449His) rs1443883930 0.00001
NM_020944.3(GBA2):c.1285C>T (p.Arg429Trp) rs748661440 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_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_024741.3(ZNF408):c.1708G>A (p.Glu570Lys) rs767306062 0.00001
NM_025136.4(OPA3):c.214A>G (p.Asn72Asp) rs1382779104 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_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_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_176787.5(PIGN):c.1240T>A (p.Phe414Ile) rs548412299 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_183075.3(CYP2U1):c.370C>T (p.His124Tyr) rs1048541745 0.00001
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr) rs778670384 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_000018.4(ACADVL):c.325G>A (p.Val109Met) rs754207297
NM_000022.4(ADA):c.678+5G>A rs763478578
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_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.5081G>T (p.Arg1694Ile) rs753721331
NM_000059.4(BRCA2):c.5555T>A (p.Val1852Asp) rs483352930
NM_000059.4(BRCA2):c.9266C>T (p.Pro3089Leu) rs1555289499
NM_000059.4(BRCA2):c.9827G>A (p.Arg3276Lys) rs1555289967
NM_000066.4(C8B):c.361C>T (p.Arg121Ter) rs150022116
NM_000069.3(CACNA1S):c.1285G>A (p.Val429Met) rs750807406
NM_000069.3(CACNA1S):c.2157+1G>A rs1572045885
NM_000079.4(CHRNA1):c.995T>C (p.Val332Ala) rs1558909889
NM_000080.4(CHRNE):c.1219+33G>A rs1392547473
NM_000083.3(CLCN1):c.763G>A (p.Gly255Arg) rs746691295
NM_000083.3(CLCN1):c.779C>T (p.Pro260Leu) rs1554435319
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.2824A>C (p.Thr942Pro) rs1590407957
NM_000138.5(FBN1):c.8138A>G (p.Glu2713Gly) rs1555393658
NM_000146.4(FTL):c.190G>A (p.Glu64Lys) rs11553225
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_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000180.4(GUCY2D):c.2927G>T (p.Arg976Leu) rs61750184
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_000215.4(JAK3):c.3103del (p.Leu1035fs) rs1424732031
NM_000215.4(JAK3):c.3257C>T (p.Pro1086Leu) rs777493612
NM_000234.3(LIG1):c.2068G>A (p.Glu690Lys) rs1599745490
NM_000251.3(MSH2):c.163C>T (p.Arg55Trp) rs587782354
NM_000252.3(MTM1):c.1533C>A (p.Asn511Lys) rs1569565536
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln) rs727505325
NM_000262.3(NAGA):c.59A>G (p.Asn20Ser) rs1022560950
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser) rs764815033
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682
NM_000285.4(PEPD):c.393+4G>A rs1555769771
NM_000286.3(PEX12):c.201TCT[1] (p.Leu70del) rs61752098
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr) rs773766679
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe) rs1569286164
NM_000302.4(PLOD1):c.286A>T (p.Ile96Phe) rs763494719
NM_000302.4(PLOD1):c.613C>T (p.Arg205Cys) rs199990859
NM_000334.4(SCN4A):c.3062G>T (p.Arg1021Leu) rs770497876
NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys) rs121912691
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup) rs775681808
NM_000371.4(TTR):c.122G>A (p.Arg41Gln) rs879254269
NM_000372.5(TYR):c.-9_-7delinsGG rs483352878
NM_000381.4(MID1):c.757-5831A>G rs1555896387
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.1887G>C (p.Gln629His) rs200665173
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.8591A>T (p.Asp2864Val) rs778258870
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_000466.3(PEX1):c.2783+6T>C rs1585224298
NM_000466.3(PEX1):c.2876G>C (p.Arg959Pro) rs773206107
NM_000487.6(ARSA):c.947C>A (p.Ala316Asp) rs1569078754
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000493.4(COL10A1):c.1049G>A (p.Gly350Asp) rs1403393545
NM_000507.4(FBP1):c.966del (p.Asp323fs) rs747269745
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) rs1229811721
NM_000521.4(HEXB):c.833C>T (p.Ala278Val) rs886044118
NM_000530.8(MPZ):c.637G>A (p.Gly213Arg) rs202176679
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.14416A>G (p.Asn4806Asp) rs886039586
NM_000540.3(RYR1):c.1627T>G (p.Leu543Val) rs946863283
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.9643G>A (p.Ala3215Thr) rs745421419
NM_000543.5(SMPD1):c.1556A>G (p.Tyr519Cys) rs371837210
NM_000548.5(TSC2):c.2369A>G (p.Tyr790Cys) rs1555507478
NM_000548.5(TSC2):c.5051_5068del (p.Ser1684_Asp1690delinsTyr) rs1555439825
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.4037C>T (p.Ser1346Leu) rs1553192908
NM_000660.7(TGFB1):c.535T>C (p.Trp179Arg) rs1568478752
NM_000700.3(ANXA1):c.209_212del (p.Thr70fs) rs1563961902
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_000812.4(GABRB1):c.307C>T (p.Pro103Ser) rs775749394
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala) rs1555401442
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu) rs1576955015
NM_000969.5(RPL5):c.118G>A (p.Asp40Asn) rs1553285006
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly) rs576330538
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_001011.4(RPS7):c.519T>A (p.Phe173Leu) rs1572360947
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_001029885.2(CPTP):c.193G>T (p.Glu65Ter) rs1569622035
NM_001031834.1(RAB40AL):c.2T>A (p.Met1Lys) rs767350323
NM_001033044.4(GLUL):c.997AAG[1] (p.Lys334del) rs1558157160
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_001042432.2(CLN3):c.790+3A>C rs386833738
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_001067.4(TOP2A):c.3050A>T (p.Asp1017Val) rs1567784471
NM_001080414.4(CCDC88C):c.3539G>A (p.Arg1180Gln) rs1166585047
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_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_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr) rs1554337589
NM_001110556.2(FLNA):c.70C>G (p.Arg24Gly) rs1164930154
NM_001110792.2(MECP2):c.33AGG[6] (p.Gly16dup) rs587783744
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
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.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.5735G>A (p.Gly1912Glu) rs2054931821
NM_001127222.2(CACNA1A):c.6630CCA[5] (p.His2216_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.7124C>A (p.Ala2375Asp) rs2054617959
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_001139.3(ALOX12B):c.1566G>T (p.Pro522=) rs936466427
NM_001142784.3(IL11RA):c.331+2T>C rs1554710108
NM_001142864.4(PIEZO1):c.7553G>C (p.Arg2518Pro) rs774268616
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_001163809.2(WDR81):c.1903C>T (p.Arg635Trp) rs759326308
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.9619C>T (p.Arg3207Cys) rs200351671
NM_001164508.2(NEB):c.9631G>A (p.Glu3211Lys) rs757944456
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_001195305.3(BBIP1):c.38-6071C>G rs760064445
NM_001197104.2(KMT2A):c.5582G>T (p.Ser1861Ile) rs1950407707
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_001244008.2(KIF1A):c.2380G>A (p.Val794Met) rs2050404791
NM_001264.5(CDSN):c.1490G>A (p.Arg497His) rs768301621
NM_001267550.2(TTN):c.106925G>A (p.Gly35642Asp) rs1553480410
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.34098GGAAGAGGAAGTTCTACCTGA[3] (p.11363VLPEEEE[5]) rs397517548
NM_001267550.2(TTN):c.39379+2T>G rs1560102141
NM_001267550.2(TTN):c.69328T>C (p.Tyr23110His) rs1553616495
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_001278464.2(DNM1L):c.253C>G (p.Pro85Ala) rs762401850
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_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_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.58G>T (p.Asp20Tyr) rs1569233520
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_001365999.1(SZT2):c.4343G>A (p.Arg1448His) rs775153972
NM_001367721.1(CASK):c.761G>A (p.Arg254His) rs1569376084
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_001370298.3(FGD4):c.1367G>A (p.Arg456His) rs533939591
NM_001370298.3(FGD4):c.167-77996del rs1357153004
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_001371986.1(UNC80):c.5421A>T (p.Glu1807Asp) rs1559333459
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_001377265.1(MAPT):c.47G>T (p.Gly16Val) rs755131800
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_001378452.1(ITPR1):c.1928A>G (p.Lys643Arg) rs2094030944
NM_001378454.1(ALMS1):c.12308_12310del (p.Ala4103_Ile4104delinsVal) rs1553422036
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
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.1301T>G (p.Val434Gly) rs375406284
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_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del) rs753461629
NM_001386298.1(CIC):c.92G>A (p.Arg31Gln) rs1047691694
NM_001386393.1(PANK2):c.1112G>C (p.Arg371Pro) rs1241995212
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_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_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.29G>A (p.Ser10Asn) rs1562823595
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_001849.4(COL6A2):c.148G>A (p.Val50Met) rs727502826
NM_001849.4(COL6A2):c.2069C>G (p.Ala690Gly) rs1568940242
NM_001849.4(COL6A2):c.2362C>A (p.Leu788Met) rs1235087612
NM_001853.4(COL9A3):c.1249C>G (p.Pro417Ala) rs1555824129
NM_001866.3(COX7B):c.217A>G (p.Thr73Ala) rs1603367347
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.6032_6034del (p.Leu2011del) rs770070270
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_002241.5(KCNJ10):c.922G>C (p.Gly308Arg) rs1557967657
NM_002283.4(KRT85):c.823T>C (p.Ser275Pro) rs1592141626
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_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_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_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_002618.4(PEX13):c.383G>T (p.Gly128Val) rs554152771
NM_002840.5(PTPRF):c.4832G>T (p.Gly1611Val) rs779426523
NM_002872.5(RAC2):c.108-8C>G rs1601672720
NM_002968.3(SALL1):c.477_478insAGCAGCGGC (p.Ser159_Gly160insSerSerGly) rs1555475415
NM_002972.4(SBF1):c.1448C>G (p.Ala483Gly) rs1556430522
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His) rs1378076282
NM_003041.4(SLC5A2):c.655+6G>C rs779984246
NM_003070.5(SMARCA2):c.31C>A (p.Pro11Thr) rs145516397
NM_003072.5(SMARCA4):c.584C>A (p.Pro195His) rs1568422604
NM_003172.4(SURF1):c.808_814dup (p.Leu272fs) rs1554768224
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_003560.4(PLA2G6):c.2248T>C (p.Cys750Arg) rs1569239288
NM_003560.4(PLA2G6):c.991G>A (p.Asp331Asn) rs199935023
NM_003640.5(ELP1):c.1256T>C (p.Leu419Pro) rs1554699019
NM_003737.4(DCHS1):c.5821A>G (p.Ser1941Gly) rs1564861778
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_003896.4(ST3GAL5):c.479C>A (p.Pro160His) rs1553405319
NM_003900.5(SQSTM1):c.213C>G (p.Asp71Glu) rs780842511
NM_003995.4(NPR2):c.2713G>T (p.Val905Leu) rs1357724443
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_004360.5(CDH1):c.437C>G (p.Ser146Cys) rs751425296
NM_004369.4(COL6A3):c.2729C>T (p.Thr910Met) rs189356869
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_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_004522.3(KIF5C):c.1190C>G (p.Pro397Arg) rs1574802637
NM_004525.3(LRP2):c.5287C>T (p.Pro1763Ser) rs1559027696
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.9638G>A (p.Gly3213Glu) rs1596133088
NM_004827.3(ABCG2):c.419del (p.Leu140fs) rs1553935607
NM_004863.4(SPTLC2):c.1546C>T (p.His516Tyr) rs1555372980
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_005198.5(CHKB):c.860A>C (p.Asp287Ala) rs1569052732
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser) rs201433617
NM_005333.5(HCCS):c.199C>A (p.Pro67Thr) rs1413276234
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_005619.5(RTN2):c.938dup (p.Thr314fs) rs748397131
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_005866.4(SIGMAR1):c.416G>T (p.Gly139Val) rs1270528470
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg) rs1553951373
NM_005993.5(TBCD):c.1537G>A (p.Ala513Thr) rs1567966866
NM_005993.5(TBCD):c.2137C>G (p.His713Asp) rs200903034
NM_006031.6(PCNT):c.3418CTC[1] (p.Leu1141del) rs759470656
NM_006059.4(LAMC3):c.2125T>C (p.Cys709Arg) rs1564379378
NM_006182.4(DDR2):c.2387A>T (p.Gln796Leu) rs1558083144
NM_006231.4(POLE):c.6757G>C (p.Glu2253Gln) rs376140352
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_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_006493.4(CLN5):c.208T>C (p.Cys70Arg) rs1593910113
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.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_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_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_007347.5(AP4E1):c.206C>T (p.Ala69Val) rs1596450585
NM_012062.5(DNM1L):c.1255C>T (p.Arg419Trp) rs776779003
NM_012073.5(CCT5):c.267G>C (p.Lys89Asn) rs1554010636
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_013382.7(POMT2):c.334-3C>A rs1566658848
NM_013391.3(DMGDH):c.2122G>A (p.Asp708Asn) rs745629468
NM_014049.5(ACAD9):c.959-3C>G rs1553731751
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014112.5(TRPS1):c.2503G>A (p.Glu835Lys) rs764414669
NM_014159.7(SETD2):c.3176G>A (p.Ser1059Asn) rs558262802
NM_014226.3(MOK):c.630_631dup (p.Ile211fs) rs769431982
NM_014236.4(GNPAT):c.289G>A (p.Asp97Asn) rs1558331190
NM_014398.4(LAMP3):c.1172_1173del (p.Val391fs) rs1553873737
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_014780.5(CUL7):c.4120GAG[2] (p.Glu1376del) rs774299493
NM_014845.6(FIG4):c.1835C>T (p.Thr612Ile) rs780595685
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014918.5(CHSY1):c.179_190dup (p.Gly60_Gly63dup) rs1555437965
NM_014946.4(SPAST):c.312_317dup (p.104AP[3]) rs747993450
NM_014953.5(DIS3):c.1806G>A (p.Met602Ile) rs1413258245
NM_015046.7(SETX):c.3057TGA[5] (p.Asp1024del) rs572772837
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021
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.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_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_015702.3(MMADHC):c.607A>G (p.Lys203Glu) rs1553453961
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_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_016327.3(UPB1):c.1099C>G (p.Arg367Gly) rs542324398
NM_016648.4(LARP7):c.552+31A>G rs1554011434
NM_016734.3(PAX5):c.435G>C (p.Gln145His) rs758368747
NM_017433.5(MYO3A):c.1716C>A (p.Phe572Leu) rs751693978
NM_017547.4(FOXRED1):c.568C>T (p.Pro190Ser) rs1555065162
NM_017547.4(FOXRED1):c.632G>C (p.Gly211Ala) rs536400690
NM_017570.5(OPLAH):c.3352G>C (p.Glu1118Gln) rs1426386645
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017654.4(SAMD9):c.2198T>C (p.Ile733Thr) rs778749748
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_018006.5(TRMU):c.844A>G (p.Lys282Glu) rs1441777972
NM_018060.4(IARS2):c.1504A>C (p.Ile502Leu) rs747014267
NM_018082.6(POLR3B):c.3301G>A (p.Val1101Met) rs1368448476
NM_018136.5(ASPM):c.5326A>G (p.Lys1776Glu) rs1553223646
NM_018238.4(AGK):c.223A>G (p.Lys75Glu) rs1376867262
NM_018263.6(ASXL2):c.4118T>C (p.Met1373Thr) rs773402627
NM_018341.3(ERMARD):c.1072del (p.Asp358fs) rs1371239720
NM_018389.5(SLC35C1):c.1001C>A (p.Ser334Tyr) rs1554953926
NM_018706.7(DHTKD1):c.1573G>A (p.Gly525Ser) rs1588612342
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_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_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_020822.3(KCNT1):c.3428G>A (p.Arg1143His) rs1182743416
NM_020919.4(ALS2):c.4382G>T (p.Arg1461Leu) rs758889641
NM_020928.2(ZSWIM6):c.440_454del (p.Ala147_Gly151del) rs772099709
NM_020987.5(ANK3):c.2902G>C (p.Asp968His) rs730882195
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_021942.6(TRAPPC11):c.581A>G (p.Glu194Gly) rs1554007320
NM_021942.6(TRAPPC11):c.902T>G (p.Leu301Trp) rs1554007926
NM_022041.4(GAN):c.314T>C (p.Val105Ala) rs761334418
NM_022095.4(ZNF335):c.235C>T (p.Pro79Ser) rs768996558
NM_022117.4(TSPYL2):c.520GATGAG[2] (p.174DE[2]) rs782085354
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_022336.4(EDAR):c.1024+16del rs3833574
NM_022336.4(EDAR):c.731-62T>C rs535840595
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_022835.3(PLEKHG2):c.1042A>G (p.Lys348Glu) rs1600652197
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_024678.6(NARS2):c.1306C>G (p.Arg436Gly) rs751383065
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_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025152.3(NUBPL):c.265G>A (p.Ala89Thr) rs1595283708
NM_030632.3(ASXL3):c.4066A>G (p.Ser1356Gly) rs1568365522
NM_030632.3(ASXL3):c.5587_5598del (p.Ser1863_Ser1866del) rs2067762952
NM_030761.5(WNT4):c.944T>G (p.Phe315Cys) rs1334778982
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_031844.3(HNRNPU):c.133G>C (p.Glu45Gln) rs1680938345
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_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_033028.5(BBS4):c.75dup (p.Ala26fs) rs1567398832
NM_033305.3(VPS13A):c.904C>T (p.Leu302Phe) rs541051874
NM_052867.4(NALCN):c.2648G>T (p.Gly883Val) rs746926466
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.3662C>T (p.Pro1221Leu) rs1562323483
NM_080704.4(TRPV1):c.63C>A (p.Cys21Ter) rs1567672200
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_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_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_152328.5(ADSS1):c.36dup (p.Gly13fs) rs781559734
NM_152419.3(HGSNAT):c.235-9T>G rs913764481
NM_152564.5(VPS13B):c.9463C>T (p.Leu3155Phe) rs1588761583
NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del) rs1562582216
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.703C>A (p.Arg235Ser) rs201227908
NM_172250.3(MMAA):c.295G>A (p.Ala99Thr) rs1553957915
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_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_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_181675.4(PPP2R2B):c.119C>T (p.Ala40Val) rs1554126530
NM_181882.3(PRX):c.1483_1560del (p.469ELPKVSEMKLPKVPEMAVPEVRLPEV[1]) rs1555801137
NM_182476.3(COQ6):c.1256A>C (p.His419Pro) rs1180320611
NM_182641.4(BPTF):c.1979A>G (p.Lys660Arg) rs2061144291
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.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676
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_198129.4(LAMA3):c.4246G>A (p.Val1416Met) rs77331026
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_205836.3(FBXO38):c.2075C>T (p.Pro692Leu) rs1581280139
NM_206933.4(USH2A):c.1571C>T (p.Ala524Val) rs772624410
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.1693_1715del (p.Phe565fs) rs1554931773
NM_213674.1(TPM2):c.826C>G (p.Gln276Glu) rs376668943
NR_027928.2(CHKB-CPT1B):n.772_780del rs1603443745

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