ClinVar Miner

List of variants reported by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

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ClinVar version:
Total variants: 960
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HGVS dbSNP gnomAD frequency
NC_000023.11:g.103181712T>C rs12854542 0.18235
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_001128929.3(ROBO2):c.97G>T (p.Gly33Ter) rs747011633 0.01950
NM_152372.4(MYOM3):c.3534+56G>A rs139328461 0.01714
NM_001382273.1(TNK2):c.2675G>A (p.Arg892His) rs112384084 0.01127
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_178822.5(IGSF10):c.2237C>G (p.Pro746Arg) rs35667704 0.00655
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile) rs202057391 0.00476
NM_001365276.2(TNXB):c.12512G>A (p.Arg4171His) rs544604053 0.00415
NM_001395656.1(ROBO2):c.2443C>T (p.Arg815Trp) rs188582283 0.00410
NM_003285.3(TNR):c.496A>G (p.Thr166Ala) rs147204644 0.00407
NM_005560.6(LAMA5):c.10726G>A (p.Glu3576Lys) rs139502000 0.00406
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_017696.3(MCM9):c.911A>G (p.Asn304Ser) rs78231991 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_003285.3(TNR):c.538A>C (p.Asn180His) rs61731112 0.00326
NM_001394062.1(MACF1):c.22506T>G (p.Phe7502Leu) rs138819868 0.00290
NM_002108.3(HAL):c.964C>T rs34457757 0.00289
NM_001004432.4(LINGO4):c.851C>T (p.Ser284Phe) rs151205204 0.00287
NM_004319.3(ASTN1):c.3283A>C (p.Met1095Leu) rs151246825 0.00270
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu) rs1800553 0.00269
NM_024072.4(DDX54):c.856G>A (p.Val286Met) rs148961522 0.00241
NM_003235.5(TG):c.2610G>T (p.Gln870His) rs2229843 0.00229
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214 0.00193
NM_006659.4(TUBGCP2):c.997C>T (p.Arg333Cys) rs34832477 0.00166
NM_015375.3(DSTYK):c.1775G>A (p.Arg592Gln) rs148815814 0.00139
NM_001036.6(RYR3):c.2486G>A (p.Arg829His) rs199500216 0.00128
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650 0.00127
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_001270974.2(HYDIN):c.7450C>T (p.Pro2484Ser) rs201875517 0.00096
NM_001270974.2(HYDIN):c.12586A>G (p.Lys4196Glu) rs374224023 0.00089
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740 0.00087
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His) rs201921029 0.00072
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NC_000023.11:g.103181775C>G rs746040794 0.00060
NM_006953.4(UPK3A):c.202G>A (p.Asp68Asn) rs145186308 0.00057
NM_002941.4(ROBO1):c.4565C>T (p.Ser1522Leu) rs199958211 0.00055
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) rs202184174 0.00051
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala) rs61743088 0.00050
NM_015375.3(DSTYK):c.53C>T (p.Pro18Leu) rs202068245 0.00047
NM_016361.5(ACP6):c.379G>A (p.Val127Met) rs144959805 0.00045
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_000216.4(ANOS1):c.2015A>G (p.His672Arg) rs199771303 0.00037
NM_032485.6(MCM8):c.1330A>G (p.Ile444Val) rs373319946 0.00035
NM_001719.3(BMP7):c.752C>T (p.Thr251Met) rs112344257 0.00034
NM_032888.4(COL27A1):c.2089G>C (p.Gly697Arg) rs140950220 0.00033
NM_001198956.2(DCAF6):c.2240G>A (p.Arg747Gln) rs145189179 0.00032
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_003285.3(TNR):c.1774A>G (p.Thr592Ala) rs140481433 0.00029
NM_001375883.1(GPR161):c.-5T>A rs200635937 0.00028
NM_001849.4(COL6A2):c.*5G>A rs377195134 0.00026
NM_005199.5(CHRNG):c.753_754del (p.Val253fs) rs767503038 0.00026
NM_019112.4(ABCA7):c.3076C>T (p.Arg1026Cys) rs141322593 0.00026
NM_022114.4(PRDM16):c.2666C>T (p.Pro889Leu) rs201814961 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) rs373335068 0.00024
NM_001794.5(CDH4):c.1351G>A (p.Glu451Lys) rs139577432 0.00024
NM_004533.4(MYBPC2):c.3194C>T (p.Ala1065Val) rs374646145 0.00024
NM_000503.6(EYA1):c.164C>T (p.Thr55Met) rs201434219 0.00023
NM_001395413.1(POR):c.850G>C (p.Ala284Pro) rs121912974 0.00023
NM_016932.5(SIX2):c.707C>T (p.Pro236Leu) rs372153489 0.00022
NM_032656.4(DHX37):c.1399C>G (p.Leu467Val) rs149331610 0.00022
NM_020884.7(MYH7B):c.3824G>A (p.Arg1275Gln) rs199813555 0.00019
NM_022450.5(RHBDF1):c.1613C>T (p.Ala538Val) rs201706583 0.00019
NM_025130.4(HKDC1):c.850G>A (p.Gly284Ser) rs202105296 0.00019
NM_003098.3(SNTA1):c.1088A>C (p.Glu363Ala) rs147964932 0.00017
NM_178822.5(IGSF10):c.5477G>A (p.Gly1826Asp) rs147801336 0.00017
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000414.4(HSD17B4):c.1417C>T (p.Arg473Trp) rs201455193 0.00016
NM_001794.5(CDH4):c.2554G>A (p.Ala852Thr) rs373341715 0.00016
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_005751.5(AKAP9):c.11297G>A (p.Arg3766Gln) rs137892407 0.00016
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226 0.00014
NM_001349723.3(DNAJB5):c.43C>T (p.Pro15Ser) rs774909609 0.00014
NM_147191.1(MMP21):c.643G>A (p.Glu215Lys) rs145789868 0.00014
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_001106.4(ACVR2B):c.527C>G (p.Pro176Arg) rs35882617 0.00013
NM_002108.4(HAL):c.1287+2T>C rs141634423 0.00013
NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter) rs145742175 0.00013
NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met) rs368122904 0.00013
NM_001615.4(ACTG2):c.255+210C>A rs768290597 0.00012
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398 0.00012
NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln) rs111033205 0.00011
NM_015375.3(DSTYK):c.1819-3C>T rs367692056 0.00011
NM_021738.3(SVIL):c.3626C>T (p.Ser1209Leu) rs767673427 0.00011
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_003560.4(PLA2G6):c.2129G>A (p.Arg710His) rs147455037 0.00010
NM_015160.3(PMPCA):c.554G>A (p.Arg185Gln) rs573267388 0.00010
NM_021785.6(RAI2):c.712G>A (p.Val238Ile) rs1208705303 0.00010
NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val) rs147134820 0.00010
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_002293.4(LAMC1):c.3304C>T (p.Arg1102Cys) rs142883085 0.00009
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp) rs145524909 0.00009
NM_014443.3(IL17B):c.527G>A (p.Cys176Tyr) rs201298520 0.00009
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569 0.00009
NM_006659.4(TUBGCP2):c.889C>T (p.Arg297Cys) rs200129338 0.00008
NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn) rs185041492 0.00008
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln) rs374201203 0.00007
NM_004284.6(CHD1L):c.707G>A (p.Arg236His) rs201333837 0.00007
NM_022450.5(RHBDF1):c.200G>A (p.Arg67Gln) rs757169652 0.00007
NM_000170.3(GLDC):c.1940C>T (p.Pro647Leu) rs201135624 0.00006
NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe) rs767300277 0.00006
NM_001004432.4(LINGO4):c.1262G>A (p.Arg421Gln) rs143154971 0.00006
NM_001010909.5(MUC21):c.665del (p.Ala222fs) rs772843697 0.00006
NM_001036.6(RYR3):c.8939G>T (p.Arg2980Leu) rs200346049 0.00006
NM_001379286.1(ZNF423):c.290G>A (p.Arg97His) rs745597535 0.00006
NM_003285.3(TNR):c.463T>A (p.Cys155Ser) rs150331590 0.00006
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter) rs137853063 0.00006
NM_004284.6(CHD1L):c.2206A>G (p.Ile736Val) rs369564534 0.00006
NM_004284.6(CHD1L):c.2278G>A (p.Ala760Thr) rs782687350 0.00006
NM_005934.4(MLLT1):c.1418G>A (p.Arg473Gln) rs749203329 0.00006
NM_006295.3(VARS1):c.3173G>A (p.Arg1058Gln) rs769369302 0.00006
NM_007055.4(POLR3A):c.3388G>A (p.Val1130Ile) rs199581222 0.00006
NM_017636.4(TRPM4):c.2732C>T (p.Thr911Met) rs148006852 0.00006
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro) rs775295739 0.00006
NM_020639.3(RIPK4):c.1681G>A (p.Val561Met) rs773070455 0.00006
NM_152372.4(MYOM3):c.1684G>A (p.Val562Ile) rs183173497 0.00006
NM_178822.5(IGSF10):c.346A>G (p.Lys116Glu) rs370577610 0.00006
NM_207421.4(PADI6):c.519G>C (p.Glu173Asp) rs375717303 0.00006
NM_000216.4(ANOS1):c.404C>T (p.Pro135Leu) rs1057519373 0.00005
NM_000308.4(CTSA):c.745T>A (p.Tyr249Asn) rs137854544 0.00005
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001382273.1(TNK2):c.1088T>C (p.Val363Ala) rs370013968 0.00005
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu) rs376210928 0.00005
NM_004667.6(HERC2):c.12801T>A (p.Asp4267Glu) rs373175587 0.00005
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala) rs767982852 0.00005
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_018245.3(OGDHL):c.2333C>T (p.Ser778Leu) rs773888308 0.00005
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_000350.3(ABCA4):c.161G>A (p.Cys54Tyr) rs150774447 0.00004
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr) rs201669522 0.00004
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291 0.00004
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr) rs369432845 0.00004
NM_001382273.1(TNK2):c.2981C>T (p.Ala994Val) rs571171423 0.00004
NM_001567.4(INPPL1):c.1636G>A (p.Val546Ile) rs376117918 0.00004
NM_005245.4(FAT1):c.6026A>G (p.Asn2009Ser) rs764579183 0.00004
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517 0.00004
NM_014000.3(VCL):c.1928C>T (p.Thr643Met) rs150643310 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 0.00004
NM_019112.4(ABCA7):c.4045C>T (p.Arg1349Trp) rs769101205 0.00004
NM_032242.4(PLXNA1):c.2641C>T (p.Arg881Trp) rs762983679 0.00004
NM_032608.7(MYO18B):c.3397C>T (p.Arg1133Trp) rs775800465 0.00004
NM_032656.4(DHX37):c.1460G>A (p.Arg487His) rs779613772 0.00004
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln) rs575837056 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter) rs773770609 0.00004
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_001004356.3(FGFRL1):c.124C>T (p.Arg42Trp) rs746384176 0.00003
NM_001036.6(RYR3):c.2000A>G (p.Asp667Gly) rs1314283337 0.00003
NM_001098537.3(PNPLA7):c.3683T>C (p.Ile1228Thr) rs368502649 0.00003
NM_001145809.2(MYH14):c.4693C>T (p.Arg1565Trp) rs769989306 0.00003
NM_001145809.2(MYH14):c.5986C>T (p.Arg1996Cys) rs749591626 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001199161.2(USP19):c.1572G>T (p.Glu524Asp) rs375659415 0.00003
NM_001371986.1(UNC80):c.5296C>T (p.Pro1766Ser) rs869025316 0.00003
NM_001379286.1(ZNF423):c.3394G>A (p.Glu1132Lys) rs548986682 0.00003
NM_001392073.1(KAT14):c.1396G>A (p.Glu466Lys) rs771882905 0.00003
NM_003970.4(MYOM2):c.621C>G (p.Ser207Arg) rs759355485 0.00003
NM_004533.4(MYBPC2):c.920T>C (p.Val307Ala) rs976232072 0.00003
NM_004651.3(USP11):c.722G>A (p.Arg241Gln) rs780096892 0.00003
NM_004722.4(AP4M1):c.136C>G (p.Pro46Ala) rs757747386 0.00003
NM_006901.4(MYO9A):c.608A>G (p.Tyr203Cys) rs374155761 0.00003
NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg) rs146477959 0.00003
NM_016026.4(RDH11):c.322C>T (p.Arg108Ter) rs606231424 0.00003
NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter) rs201213030 0.00003
NM_018359.5(UFSP2):c.1373A>G (p.Tyr458Cys) rs544351411 0.00003
NM_020975.6(RET):c.1201A>T (p.Ser401Cys) rs140638866 0.00003
NM_021222.3(PRUNE1):c.383G>A (p.Arg128Gln) rs767769359 0.00003
NM_022450.5(RHBDF1):c.1384G>A (p.Gly462Arg) rs760441920 0.00003
NM_022830.3(TUT1):c.1297G>A (p.Ala433Thr) rs765227276 0.00003
NM_022835.3(PLEKHG2):c.1708G>A (p.Gly570Arg) rs370673772 0.00003
NM_023012.6(RSRC2):c.425G>A (p.Arg142Gln) rs752134549 0.00003
NM_032590.5(KDM2B):c.3050G>A (p.Arg1017His) rs782304760 0.00003
NM_033394.3(TANC1):c.2830C>T (p.His944Tyr) rs374498239 0.00003
NM_170707.4(LMNA):c.1756G>A (p.Val586Met) rs758048062 0.00003
NM_181486.4(TBX5):c.618T>G (p.Phe206Leu) rs533581420 0.00003
NM_000064.4(C3):c.1835C>T (p.Thr612Met) rs201572752 0.00002
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_001003800.2(BICD2):c.1477C>T (p.Arg493Cys) rs146113445 0.00002
NM_001408.3(CELSR2):c.3830C>T (p.Pro1277Leu) rs561330579 0.00002
NM_003172.4(SURF1):c.586C>T (p.Gln196Ter) rs147816470 0.00002
NM_004187.5(KDM5C):c.3068A>G (p.Lys1023Arg) rs782367133 0.00002
NM_004319.3(ASTN1):c.2770C>T (p.His924Tyr) rs759502995 0.00002
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys) rs1262533485 0.00002
NM_004780.3(TCEAL1):c.346G>A (p.Asp116Asn) rs1258382686 0.00002
NM_006736.6(DNAJB2):c.620-1G>A rs764813110 0.00002
NM_012156.2(EPB41L1):c.1912C>T (p.Arg638Cys) rs1060499773 0.00002
NM_015047.3(EMC1):c.245C>T (p.Thr82Met) rs869320625 0.00002
NM_015375.3(DSTYK):c.2368C>T (p.Arg790Cys) rs773130126 0.00002
NM_024072.4(DDX54):c.1832G>A (p.Arg611Gln) rs777276705 0.00002
NM_030632.3(ASXL3):c.3136G>A (p.Gly1046Arg) rs376997378 0.00002
NM_032242.4(PLXNA1):c.3554G>A (p.Arg1185Gln) rs375833812 0.00002
NM_032242.4(PLXNA1):c.5632C>T (p.Arg1878Trp) rs149124469 0.00002
NM_032485.6(MCM8):c.89A>C (p.Lys30Thr) rs906306910 0.00002
NM_032608.7(MYO18B):c.6322C>T (p.Arg2108Ter) rs773193391 0.00002
NM_032656.4(DHX37):c.2191G>A (p.Val731Met) rs754186165 0.00002
NM_130797.4(DPP6):c.1154T>C (p.Met385Thr) rs369128533 0.00002
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr) rs374993554 0.00002
NM_000170.3(GLDC):c.2938A>G (p.Asn980Asp) rs772574530 0.00001
NM_000238.4(KCNH2):c.2046G>C (p.Glu682Asp) rs1338579153 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000278.5(PAX2):c.511T>C (p.Ser171Pro) rs781489326 0.00001
NM_000335.5(SCN5A):c.1567C>T (p.Arg523Cys) rs199473119 0.00001
NM_000336.3(SCNN1B):c.1696C>T (p.Arg566Ter) rs137852704 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000844.4(GRM7):c.461T>C (p.Ile154Thr) rs1114167298 0.00001
NM_001009921.3(VPS8):c.3130G>A (p.Val1044Ile) rs566967979 0.00001
NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) rs746612410 0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654 0.00001
NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter) rs943339467 0.00001
NM_001035.3(RYR2):c.2984T>C (p.Met995Thr) rs1009381849 0.00001
NM_001035.3(RYR2):c.3181G>A (p.Gly1061Ser) rs747447414 0.00001
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu) rs773915323 0.00001
NM_001039803.3(CDK20):c.610T>C (p.Phe204Leu) rs745561217 0.00001
NM_001110556.2(FLNA):c.6268G>C (p.Val2090Leu) rs968230475 0.00001
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) rs121912501 0.00001
NM_001142966.3(GREB1L):c.5650C>T (p.Arg1884Cys) rs1308452766 0.00001
NM_001148.6(ANK2):c.1427A>G (p.Gln476Arg) rs1203193073 0.00001
NM_001148.6(ANK2):c.742G>A (p.Val248Met) rs752395758 0.00001
NM_001161546.2(PROB1):c.671G>A (p.Gly224Asp) rs1114167279 0.00001
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966 0.00001
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu) rs760474458 0.00001
NM_001253.4(CDC5L):c.1802A>G (p.Lys601Arg) rs368161524 0.00001
NM_001271874.2(AAR2):c.520G>A (p.Val174Met) rs746800707 0.00001
NM_001278116.2(L1CAM):c.3163G>A (p.Gly1055Arg) rs1484399991 0.00001
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447 0.00001
NM_001297663.2(TTC39A):c.1322C>T (p.Thr441Met) rs756251338 0.00001
NM_001330195.2(NRXN3):c.1315A>G (p.Lys439Glu) rs1057519451 0.00001
NM_001330195.2(NRXN3):c.3142+3A>G rs531047390 0.00001
NM_001384609.1(SLITRK5):c.2515G>C (p.Glu839Gln) rs1060499750 0.00001
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898 0.00001
NM_001458.5(FLNC):c.3014C>T (p.Ser1005Leu) rs752448040 0.00001
NM_001458.5(FLNC):c.6748A>C (p.Met2250Leu) rs923795184 0.00001
NM_001552.3(IGFBP4):c.698C>T (p.Thr233Met) rs563069739 0.00001
NM_001719.3(BMP7):c.334A>G (p.Ser112Gly) rs755895161 0.00001
NM_002108.3(HAL):c.308+1G>A rs76945459 0.00001
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665 0.00001
NM_002230.4(JUP):c.251G>A (p.Arg84Gln) rs782061304 0.00001
NM_002336.3(LRP6):c.1406C>T (p.Pro469Leu) rs869320638 0.00001
NM_002397.5(MEF2C):c.860C>T (p.Ser287Leu) rs777826971 0.00001
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286 0.00001
NM_002968.3(SALL1):c.130G>A (p.Val44Ile) rs373744120 0.00001
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp) rs761533681 0.00001
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218 0.00001
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile) rs1582940678 0.00001
NM_003995.4(NPR2):c.2720C>T (p.Thr907Met) rs1311857509 0.00001
NM_004249.4(RAB28):c.651T>G (p.Cys217Trp) rs751163782 0.00001
NM_004301.5(ACTL6A):c.1129C>T (p.Arg377Trp) rs868064163 0.00001
NM_004371.4(COPA):c.698G>A (p.Arg233His) rs794727993 0.00001
NM_004560.4(ROR2):c.1324C>T (p.Arg442Ter) rs267607016 0.00001
NM_004560.4(ROR2):c.1970G>A (p.Arg657His) rs529829552 0.00001
NM_004560.4(ROR2):c.904C>T (p.Arg302Cys) rs767372181 0.00001
NM_004608.4(TBX6):c.844C>T (p.Arg282Ter) rs201620629 0.00001
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys) rs532757890 0.00001
NM_004826.4(ECEL1):c.2023G>A (p.Ala675Thr) rs606231471 0.00001
NM_005199.5(CHRNG):c.256C>T (p.Arg86Cys) rs777219451 0.00001
NM_005199.5(CHRNG):c.715C>T (p.Arg239Cys) rs121912670 0.00001
NM_005751.5(AKAP9):c.10591C>G (p.Gln3531Glu) rs767137372 0.00001
NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln) rs587777514 0.00001
NM_007050.6(PTPRT):c.206T>C (p.Val69Ala) rs762135776 0.00001
NM_012123.4(MTO1):c.1933C>A (p.Arg645Ser) rs746382157 0.00001
NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser) rs61751035 0.00001
NM_014000.3(VCL):c.3379G>A (p.Val1127Ile) rs1312868617 0.00001
NM_014000.3(VCL):c.550C>T (p.His184Tyr) rs1321660809 0.00001
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys) rs1114167292 0.00001
NM_015114.3(ANKLE2):c.2344C>T (p.Gln782Ter) rs201785518 0.00001
NM_015375.3(DSTYK):c.358G>A (p.Asp120Asn) rs373780579 0.00001
NM_015966.3(ERGIC3):c.717+1G>A rs113718222 0.00001
NM_016026.4(RDH11):c.199C>T (p.Arg67Ter) rs606231423 0.00001
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln) rs1060499738 0.00001
NM_016194.4(GNB5):c.375+3A>G rs766004901 0.00001
NM_017696.3(MCM9):c.220C>T (p.Arg74Ter) rs760702305 0.00001
NM_017696.3(MCM9):c.394C>T (p.Arg132Ter) rs587777872 0.00001
NM_017727.5(TMEM214):c.899G>A (p.Arg300Gln) rs764822348 0.00001
NM_017882.3(CLN6):c.407G>A (p.Arg136His) rs769701646 0.00001
NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter) rs868755574 0.00001
NM_018327.4(SPTLC3):c.448T>C (p.Trp150Arg) rs755919784 0.00001
NM_021098.3(CACNA1H):c.6898A>G (p.Ile2300Val) rs775271588 0.00001
NM_021222.3(PRUNE1):c.316G>A (p.Asp106Asn) rs773618224 0.00001
NM_021222.3(PRUNE1):c.520G>T (p.Gly174Ter) rs200618384 0.00001
NM_024072.4(DDX54):c.58T>A (p.Trp20Arg) rs774035439 0.00001
NM_024105.4(ALG12):c.117del (p.Gln40fs) rs761221480 0.00001
NM_024119.3(DHX58):c.1910G>A (p.Ser637Asn) rs782186420 0.00001
NM_024783.4(AGBL2):c.1747C>T (p.Arg583Ter) rs764666741 0.00001
NM_032242.4(PLXNA1):c.1357C>T (p.Arg453Ter) rs371434286 0.00001
NM_032242.4(PLXNA1):c.1549C>T (p.Gln517Ter) rs1204647586 0.00001
NM_032242.4(PLXNA1):c.2702G>A (p.Arg901His) rs774624923 0.00001
NM_032242.4(PLXNA1):c.4483C>T (p.Arg1495Trp) rs2079185551 0.00001
NM_032447.5(FBN3):c.8357G>A (p.Gly2786Asp) rs760179129 0.00001
NM_032485.6(MCM8):c.925C>T (p.Arg309Ter) rs201115244 0.00001
NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly) rs1424699115 0.00001
NM_032656.4(DHX37):c.3281C>T (p.Thr1094Met) rs1277857720 0.00001
NM_032727.4(INA):c.562G>A (p.Gly188Arg) rs920363358 0.00001
NM_032829.3(FAM222A):c.284A>T (p.His95Leu) rs763757845 0.00001
NM_052988.5(CDK10):c.1070G>A (p.Arg357His) rs772157816 0.00001
NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn) rs760261849 0.00001
NM_130837.3(OPA1):c.1033C>T (p.Arg345Trp) rs780333963 0.00001
NM_139278.4(LGI3):c.991G>A (p.Asp331Asn) rs1050199719 0.00001
NM_152707.4(SLC25A16):c.793C>T (p.Arg265Cys) rs869312864 0.00001
NM_170679.3(SKP1):c.456+19T>G rs1114167278 0.00001
NM_175875.5(SIX5):c.1261G>A (p.Val421Ile) rs1057519372 0.00001
NM_176787.5(PIGN):c.996T>G (p.Ile332Met) rs1060499763 0.00001
NM_182961.4(SYNE1):c.10727G>A (p.Arg3576Gln) rs1060499769 0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455 0.00001
GRCh37/hg19 17p13.3(chr17:1-1026797)x1
GRCh37/hg19 18q11.1-11.2(chr18:18856932-19159898)x1
GRCh37/hg19 4q31.3(chr4:154316483-154325120)
GRCh37/hg19 9q22.31(chr9:94381136-94851388)x1
GRCh37/hg19 9q22.31(chr9:94499721-94518293)x1
GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)x1
GRCh37/hg19 Xq22.1-22.2(chrX:102543473-103398234)x0
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1
GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1
GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1
GRCh37/hg19 Xq22.2(chrX:102615641-103309503)x1
GRCh37/hg19 Xq22.2(chrX:102967297-103038606)x0
GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x0
GRCh37/hg19 Xq22.2(chrX:103029773-103036548)x1
GRCh37/hg19 Xq26.3(chrX:135602028-136259908)x2
GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4
NCBI36/hg18 17p13.1(chr17:6853665-8107394)x4
NC_000001.11:g.10115497_16283149dup
NC_000001.11:g.161305808_161309983dup
NC_000002.12:g.32063148_32067182del
NC_000002.12:g.32153843_32159343del
NC_000007.13:g.147518609_147807856del
NC_000008.11:g.22146137_22152989del
NC_000017.10:g.[704261_704263del];[(729319_882558)_(882998_?)]del
NC_000023.10:g.36649710_136649711del100000002insG
NC_000023.11:g.102811122T>C rs747345446
NM_000112.4(SLC26A2):c.2057G>A (p.Cys686Tyr) rs1581232671
NM_000113.3(TOR1A):c.506T>C (p.Phe169Ser) rs1588216830
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_000138.5(FBN1):c.4970_4971insA (p.Cys1658fs) rs864309713
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000153.4(GALC):c.1987T>G (p.Trp663Gly) rs1060499761
NM_000155.4(GALT):c.1018G>T (p.Glu340Ter) rs111033806
NM_000158.4(GBE1):c.1861CTT[1] (p.Leu622del) rs1576137368
NM_000158.4(GBE1):c.776C>G (p.Ala259Gly) rs1576183525
NM_000166.6(GJB1):c.-16-2A>G rs751230398
NM_000168.6(GLI3):c.1673C>A (p.Ser558Ter) rs1356013382
NM_000170.3(GLDC):c.2177T>A (p.Leu726Gln) rs1114167353
NM_000202.8(IDS):c.613G>A (p.Ala205Thr) rs864622779
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000238.4(KCNH2):c.1225G>A (p.Val409Met) rs539146547
NM_000256.3(MYBPC3):c.1219G>C (p.Gly407Arg) rs727505266
NM_000256.3(MYBPC3):c.2603G>A (p.Gly868Asp) rs886048376
NM_000278.5(PAX2):c.76del (p.Val26fs) rs75462234
NM_000308.4(CTSA):c.833_834del (p.Tyr278fs) rs875989777
NM_000314.8(PTEN):c.464A>G (p.Tyr155Cys) rs1060500126
NM_000325.6(PITX2):c.194C>T (p.Pro65Leu) rs1320287028
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_000350.2(ABCA4):c.[302+68C>T;4539+2028C>T]
NM_000350.3(ABCA4):c.6148-698_6670del
NM_000350.3(ABCA4):c.6729+5_6729+19del rs749526785
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) rs56173620
NM_000458.4(HNF1B):c.1132dup (p.Gln378fs) rs1057519371
NM_000487.6(ARSA):c.890C>A (p.Ser297Tyr) rs74315474
NM_000489.6(ATRX):c.1676C>T (p.Ser559Leu) rs1060499760
NM_000489.6(ATRX):c.533T>A (p.Val178Asp) rs1060499759
NM_000503.6(EYA1):c.966+5G>A rs606231357
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000523.4(HOXD13):c.623A>T (p.Asp208Val) rs2105379098
NM_000530.8(MPZ):c.403A>C (p.Ile135Leu) rs879253858
NM_000533.5(PLP1):c.5-1636_5-1619dup rs202027037
NM_000533.5(PLP1):c.5-3598del rs5903226
NM_000554.6(CRX):c.449C>G (p.Ser150Ter) rs864309706
NM_000554.6(CRX):c.660del (p.Tyr221fs) rs864309707
NM_000554.6(CRX):c.661del (p.Tyr221fs) rs864309708
NM_000618.5(IGF1):c.156dup (p.Leu53fs) rs1592837549
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp) rs1114167300
NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys) rs1114167301
NM_000891.3(KCNJ2):c.49G>A (p.Asp17Asn) rs1331601602
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) rs782596945
NM_001005361.3(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001008537.3(NEXMIF):c.3244C>T (p.Gln1082Ter) rs2080102486
NM_001009994.3(RIPPLY2):c.299del (p.Leu100fs) rs864309489
NM_001012426.2(FOXP4):c.815del (p.Leu272fs) rs1114167294
NM_001015877.2(PHF6):c.255C>A (p.Cys85Ter) rs1114167289
NM_001017979.3(RAB28):c.172+1G>C rs875989778
NM_001017995.3(SH3PXD2B):c.969del (p.Arg324fs) rs794728006
NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) rs879255557
NM_001031711.3(ERGIC1):c.782G>A (p.Gly261Asp) rs1581595267
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) rs1602330420
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) rs370103782
NM_001036.6(RYR3):c.11164+1G>A rs549279246
NM_001037.5(SCN1B):c.308A>T (p.Asp103Val) rs1057519457
NM_001037161.2(ACOT1):c.410_423del (p.Glu137fs) rs1057519450
NM_001039803.3(CDK20):c.564G>A (p.Trp188Ter) rs1057519438
NM_001042475.3(CEP85L):c.182C>T (p.Ser61Phe) rs1554234607
NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) rs869312871
NM_001048166.1(STIL):c.1226G>C (p.Ser409Thr) rs369348360
NM_001080413.3(NOBOX):c.1078C>T (p.Arg360Ter) rs1218620893
NM_001083962.2(TCF4):c.145+1G>A rs1555782724
NM_001098.3(ACO2):c.2338_2339del (p.Gln780fs) rs1114167284
NM_001099433.2(JAKMIP1):c.1756G>C (p.Asp586His) rs1114167350
NM_001100915.3(KCTD19):c.215C>A (p.Thr72Asn) rs869312866
NM_001101677.2(SOHLH1):c.27C>G (p.Tyr9Ter) rs864309646
NM_001101677.2(SOHLH1):c.705del (p.Lys236fs) rs864309645
NM_001103.4(ACTN2):c.2075T>A (p.Ile692Asn) rs1553304459
NM_001105206.3(LAMA4):c.1420G>T (p.Val474Phe) rs375981026
NM_001106.4(ACVR2B):c.1147C>T (p.Arg383Cys) rs1559655653
NM_001110556.2(FLNA):c.7333+1G>A rs1557175424
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer) rs61752992
NM_001113490.2(AMOT):c.1926G>C (p.Gln642His) rs869312862
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro) rs1057519429
NM_001127671.2(LIFR):c.274C>T (p.Gln92Ter) rs1580117891
NM_001134363.3(RBM20):c.934C>A (p.Leu312Met) rs1164333931
NM_001134407.3(GRIN2A):c.452_463del (p.Ile151_Ala155delinsThr) rs2141632937
NM_001142416.2(AIMP1):c.334C>T (p.Gln112Ter) rs879253867
NM_001142640.2(TNRC6C):c.1652G>A (p.Gly551Glu) rs748305029
NM_001142966.3(GREB1L):c.1558G>A (p.Asp520Asn)
NM_001142966.3(GREB1L):c.2321T>A (p.Leu774Gln)
NM_001142966.3(GREB1L):c.2722T>C (p.Cys908Arg)
NM_001142966.3(GREB1L):c.2947G>A (p.Gly983Ser)
NM_001142966.3(GREB1L):c.3068G>A (p.Arg1023Gln)
NM_001142966.3(GREB1L):c.3085G>A (p.Asp1029Asn)
NM_001142966.3(GREB1L):c.3146+1G>A
NM_001142966.3(GREB1L):c.3167T>C (p.Leu1056Pro)
NM_001142966.3(GREB1L):c.3205T>A (p.Leu1069Met)
NM_001142966.3(GREB1L):c.3353G>A (p.Arg1118Gln)
NM_001142966.3(GREB1L):c.4054GAG[2] (p.Glu1354del)
NM_001142966.3(GREB1L):c.4576C>T (p.Arg1526Ter) rs2146025908
NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs)
NM_001142966.3(GREB1L):c.5441C>A (p.Ala1814Asp)
NM_001142966.3(GREB1L):c.553G>A (p.Gly185Ser) rs2144520227
NM_001142966.3(GREB1L):c.575G>A (p.Arg192Gln)
NM_001145809.2(MYH14):c.2921G>T (p.Arg974Leu) rs113993956
NM_001148.6(ANK2):c.11692A>G (p.Lys3898Glu) rs1554597130
NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys) rs1603270381
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001170535.3(ATAD3A):c.1582C>T (p.Arg528Trp) rs1057517686
NM_001170535.3(ATAD3A):c.158C>T (p.Thr53Ile) rs1057517687
NM_001182.5(ALDH7A1):c.571A>G (p.Ile191Val) rs1060499755
NM_001195553.2(DCX):c.190T>A (p.Tyr64Asn) rs1556405129
NM_001197104.2(KMT2A):c.2233C>T (p.Arg745Ter) rs727503777
NM_001199107.2(TBC1D24):c.1206+5G>A rs398122968
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.58C>G (p.Gln20Glu) rs201257588
NM_001199107.2(TBC1D24):c.999G>T (p.Leu333Phe) rs797044548
NM_001199161.2(USP19):c.1660G>T (p.Val554Leu) rs1057519452
NM_001205293.3(CACNA1E):c.6649C>T (p.Gln2217Ter) rs766235230
NM_001206999.2(CIT):c.2777A>C (p.Gln926Pro) rs1593597170
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter) rs1060499756
NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu) rs1060499771
NM_001267550.2(TTN):c.2370+2T>C rs1574817395
NM_001267550.2(TTN):c.66904C>T (p.Leu22302=) rs1553624186
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile) rs1289914935
NM_001282531.3(ADNP):c.775A>C (p.Asn259His) rs1568710433
NM_001282874.2(SMARCA1):c.7C>T (p.Gln3Ter) rs1060499736
NM_001284236.3(ZFYVE16):c.1798G>A (p.Asp600Asn) rs1561277007
NM_001284236.3(ZFYVE16):c.3755G>C (p.Gly1252Ala) rs1561310640
NM_001297663.2(TTC39A):c.1490C>G (p.Ala497Gly) rs1553171591
NM_001303457.2(TTI1):c.2761G>A (p.Asp921Asn) rs375131638
NM_001320669.3(ZFP30):c.730T>C (p.Cys244Arg) rs869312869
NM_001321075.3(DLG4):c.148dup (p.Tyr50fs) rs869312859
NM_001330311.2(DVL1):c.1571_1583del (p.Pro524fs) rs1553173420
NM_001330311.2(DVL1):c.1580_1592del (p.His527fs) rs797044834
NM_001330311.2(DVL1):c.1583del (p.Pro528fs) rs797044836
NM_001330311.2(DVL1):c.1594del (p.Trp532fs) rs797044835
NM_001330311.2(DVL1):c.1598del (p.Pro533fs) rs869025220
NM_001330311.2(DVL1):c.1604del (p.Gly535fs) rs797044838
NM_001330311.2(DVL1):c.1631del (p.Gly544fs) rs1643645439
NM_001330311.2(DVL1):c.1645_1646delinsC (p.Phe549fs) rs797044833
NM_001330311.2(DVL1):c.1667del (p.Pro556fs) rs2100714986
NM_001330311.2(DVL1):c.1683_1698del (p.Ser562fs) rs1553173368
NM_001330311.2(DVL1):c.1687_1691dup (p.Ser564fs) rs1553173372
NM_001330311.2(DVL1):c.1690del (p.Ser564fs) rs797044837
NM_001330311.2(DVL1):c.1698del (p.Ser567fs) rs1553173367
NM_001330311.2(DVL1):c.1715-1G>A rs2100704859
NM_001330311.2(DVL1):c.1731del (p.Ser578fs) rs1553172962
NM_001348800.3(ZBTB20):c.1786C>T (p.His596Tyr) rs1057519435
NM_001349.4(DARS1):c.389G>C (p.Cys130Ser) rs1060499772
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu) rs1057519430
NM_001356.5(DDX3X):c.192dup (p.Asp65fs) rs1057519431
NM_001356.5(DDX3X):c.362G>T (p.Arg121Leu) rs1057519446
NM_001365276.2(TNXB):c.10045G>A (p.Ala3349Thr) rs529527925
NM_001366722.1(GRIP1):c.1298G>T (p.Ser433Ile) rs1060499774
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp) rs1114167352
NM_001367805.3(KIF23):c.797T>A (p.Leu266His) rs748016594
NM_001371727.1(GABRB2):c.754C>G (p.Pro252Ala) rs869312861
NM_001371928.1(AHDC1):c.1402dup (p.Cys468fs) rs869312858
NM_001371928.1(AHDC1):c.2373_2374del (p.Cys791fs) rs587779766
NM_001371928.1(AHDC1):c.2547del (p.Ser850fs) rs587779768
NM_001371928.1(AHDC1):c.2898del (p.Tyr967fs) rs587779767
NM_001371986.1(UNC80):c.2033del (p.Asn678fs) rs869025318
NM_001371986.1(UNC80):c.7805G>C (p.Arg2602Thr) rs869025317
NM_001371986.1(UNC80):c.7955T>A (p.Leu2652Ter) rs869025319
NM_001374828.1(ARID1B):c.2516_2518delinsTCCGCAGCCACTCC (p.Pro839fs) rs879253856
NM_001374828.1(ARID1B):c.3151C>T (p.Gln1051Ter) rs879253747
NM_001374828.1(ARID1B):c.3577_3578del (p.Lys1193fs) rs879253745
NM_001374828.1(ARID1B):c.4642dup (p.Tyr1548fs) rs879253746
NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp) rs1057519437
NM_001376.5(DYNC1H1):c.10172C>T (p.Pro3391Leu) rs1555411378
NM_001378183.1(PIEZO2):c.8514AGA[2] (p.Glu2840del) rs1555621138
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala) rs869312685
NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu) rs754025360
NM_001378969.1(KCND3):c.1153T>C (p.Ser385Pro) rs1057519453
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala) rs41298151
NM_001382273.1(TNK2):c.1957G>A (p.Val653Met) rs201407161
NM_001382347.1(MYO5A):c.4200C>G (p.Ser1400Arg) rs1114167290
NM_001382391.1(CSPP1):c.2161C>G (p.Arg721Gly) rs778822396
NM_001393986.1(PRDM2):c.4283_4295del (p.Leu1428fs) rs1570018597
NM_001394062.1(MACF1):c.2540C>G (p.Ser847Ter) rs1553231631
NM_001395656.1(ROBO2):c.335C>T (p.Ala112Val) rs780623744
NM_001421.4(ELF4):c.560C>A (p.Thr187Asn)
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001448.3(GPC4):c.1235G>A (p.Arg412Lys) rs1556022962
NM_001466.4(FZD2):c.1130G>A (p.Trp377Ter) rs1555657045
NM_001466.4(FZD2):c.1300G>A (p.Gly434Ser) rs1223920489
NM_001466.4(FZD2):c.1301G>T (p.Gly434Val) rs1555657073
NM_001466.4(FZD2):c.1301_1302delinsTT (p.Gly434Val) rs1555657074
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter) rs1568105666
NM_001466.4(FZD2):c.367_388dup (p.Phe130fs) rs2144572390
NM_001520.4(GTF3C1):c.4096G>A (p.Glu1366Lys) rs1060499746
NM_001605.3(AARS1):c.986G>A (p.Arg329His) rs267606621
NM_001615.4(ACTG2):c.118C>T (p.Arg40Cys) rs587777385
NM_001615.4(ACTG2):c.119G>A (p.Arg40His) rs587777386
NM_001615.4(ACTG2):c.134T>C (p.Met45Thr) rs864309490
NM_001615.4(ACTG2):c.187C>G (p.Arg63Gly) rs864309491
NM_001615.4(ACTG2):c.400T>A (p.Tyr134Asn) rs587777388
NM_001615.4(ACTG2):c.532C>T (p.Arg178Cys) rs78001248
NM_001615.4(ACTG2):c.533G>A (p.Arg178His) rs587777384
NM_001615.4(ACTG2):c.593G>A (p.Gly198Asp) rs864309492
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys) rs587777387
NM_001690.4(ATP6V1A):c.940A>G (p.Asn314Asp) rs869312870
NM_001719.3(BMP7):c.900C>G (p.Ser300Arg) rs540533068
NM_001794.5(CDH4):c.1976G>C (p.Arg659Pro) rs765815715
NM_001967.4(EIF4A2):c.481G>T (p.Gly161Trp)
NM_001999.4(FBN2):c.4094G>C (p.Cys1365Ser) rs1581223610
NM_002018.4(FLII):c.2755C>T (p.Arg919Trp) rs77821722
NM_002114.4(HIVEP1):c.4089G>C (p.Met1363Ile) rs776300630
NM_002180.3(IGHMBP2):c.1193C>A (p.Ala398Glu) rs35193202
NM_002180.3(IGHMBP2):c.1346del (p.Met449fs) rs879253865
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_002202.3(ISL1):c.766-1G>A rs1561208602
NM_002206.3(ITGA7):c.132_133insA (p.Glu45fs) rs1060499775
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002336.3(LRP6):c.1004G>T (p.Arg335Leu) rs869320641
NM_002336.3(LRP6):c.1609G>A (p.Gly537Arg) rs869320639
NM_002336.3(LRP6):c.1620G>T (p.Leu540Phe) rs869320642
NM_002336.3(LRP6):c.2058C>G (p.Ile686Met) rs869320643
NM_002336.3(LRP6):c.2994+1G>A rs866789963
NM_002336.3(LRP6):c.2995G>C (p.Gly999Arg) rs869320644
NM_002336.3(LRP6):c.3365A>C (p.Asp1122Ala) rs869320645
NM_002336.3(LRP6):c.3398-2A>C rs869320636
NM_002336.3(LRP6):c.4082-2A>G rs869320640
NM_002336.3(LRP6):c.4136G>A (p.Gly1379Asp) rs869320646
NM_002336.3(LRP6):c.4298C>T (p.Ser1433Leu) rs869320647
NM_002336.3(LRP6):c.4593del (p.Cys1532fs) rs869320635
NM_002336.3(LRP6):c.517C>G (p.Arg173Gly) rs869320637
NM_002465.4(MYBPC1):c.32A>G (p.Glu11Gly) rs1309691397
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002471.4(MYH6):c.4430G>T (p.Arg1477Leu) rs147586142
NM_002474.3(MYH11):c.5897A>G (p.Asn1966Ser) rs1317809527
NM_002518.4(NPAS2):c.1363C>G (p.Pro455Ala) rs879253743
NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) rs864309711
NM_002677.5(PMP2):c.128T>A (p.Ile43Asn) rs879253869
NM_002677.5(PMP2):c.155T>C (p.Ile52Thr) rs1563518388
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002742.3(PRKD1):c.646C>G (p.Arg216Gly) rs145651161
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_003054.6(SLC18A2):c.711del (p.Phe238fs) rs762879329
NM_003172.4(SURF1):c.312_321delinsAT (p.Pro104_Leu105insTer) rs863224228
NM_003239.5(TGFB3):c.171del (p.Glu58fs) rs1594792466
NM_003242.6(TGFBR2):c.1563G>A (p.Trp521Ter) rs1553631968
NM_003285.3(TNR):c.1732C>T (p.Arg578Ter) rs869312899
NM_003289.4(TPM2):c.180T>G (p.Tyr60Ter) rs1281970248
NM_003289.4(TPM2):c.620_631dup (p.Gln210_Ala211insValGluAlaGln) rs1587956195
NM_003297.4(NR2C1):c.544+1G>C rs1592778920
NM_003314.3(TTC1):c.784T>G (p.Phe262Val) rs1060499752
NM_003384.3(VRK1):c.706G>A (p.Val236Met) rs771364038
NM_003392.7(WNT5A):c.247T>G (p.Cys83Gly) rs2106946273
NM_003392.7(WNT5A):c.248G>A (p.Cys83Tyr) rs786200925
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe) rs2051315439
NM_003392.7(WNT5A):c.479C>G (p.Ser160Cys) rs1553677971
NM_003392.7(WNT5A):c.487_492dup (p.Gly163_Cys164dup) rs1553677967
NM_003394.4(WNT10B):c.741del (p.Lys246_Cys247insTer) rs2137611223
NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter) rs1569345504
NM_003413.4(ZIC3):c.593_609del (p.Pro198fs) rs1569345742
NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) rs104894960
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter) rs1203069392
NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser) rs122463167
NM_003482.4(KMT2D):c.10252G>T (p.Glu3418Ter) rs1114167348
NM_003490.4(SYN3):c.1444_1445delinsTT (p.Pro482Leu) rs1057519444
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_003560.4(PLA2G6):c.1640A>G (p.Glu547Gly) rs1060499764
NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu) rs1582953009
NM_003587.5(DHX16):c.2021C>T (p.Thr674Met) rs1582931908
NM_003587.5(DHX16):c.2091G>T (p.Gln697His) rs1582931640
NM_003680.4(YARS1):c.586G>C (p.Glu196Gln) rs121908834
NM_003970.4(MYOM2):c.2797C>T (p.Gln933Ter) rs770888659
NM_003995.4(NPR2):c.1087C>T (p.Arg363Ter) rs767258629
NM_003995.4(NPR2):c.1673T>C (p.Ile558Thr) rs751324720
NM_003995.4(NPR2):c.277C>A (p.Pro93Thr) rs773934765
NM_004147.4(DRG1):c.118C>T (p.Arg40Ter) rs1391978939
NM_004170.6(SLC1A1):c.1264G>A (p.Val422Met) rs755579388
NM_004269.4(MED27):c.878C>T (p.Pro293Leu) rs1218659650
NM_004319.3(ASTN1):c.2224G>C (p.Gly742Arg) rs138686233
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter) rs1574724863
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs) rs1574942920
NM_004369.4(COL6A3):c.985G>A (p.Val329Met) rs542283928
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs) rs1582196903
NM_004371.4(COPA):c.690G>T (p.Lys230Asn) rs864309710
NM_004371.4(COPA):c.721G>A (p.Glu241Lys) rs794727995
NM_004371.4(COPA):c.728A>G (p.Asp243Gly) rs794727994
NM_004415.4(DSP):c.193C>T (p.His65Tyr) rs1554105605
NM_004423.4(DVL3):c.1585del (p.Ala529fs) rs869025215
NM_004423.4(DVL3):c.1617del (p.Gln539fs) rs1553811652
NM_004423.4(DVL3):c.1715-1G>A rs869025217
NM_004423.4(DVL3):c.1715-2A>G rs869025216
NM_004423.4(DVL3):c.1715-2del rs2109023862
NM_004423.4(DVL3):c.1716del (p.Ser573fs) rs869025218
NM_004423.4(DVL3):c.1749del (p.Ser583fs) rs869025219
NM_004423.4(DVL3):c.1751_1754del (p.Asp584fs) rs1577052785
NM_004463.3(FGD1):c.1422del (p.Phe474fs) rs2147432826
NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer) rs2147436223
NM_004463.3(FGD1):c.527dup (p.Leu177fs) rs756586058
NM_004463.3(FGD1):c.892dup (p.Cys298fs) rs1557189608
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004521.3(KIF5B):c.2252A>G (p.His751Arg) rs1114167297
NM_004533.4(MYBPC2):c.707C>T (p.Thr236Ile) rs201910994
NM_004533.4(MYBPC2):c.764G>C (p.Ser255Thr) rs377503167
NM_004560.4(ROR2):c.1096C>T (p.Arg366Trp) rs2118683688
NM_004560.4(ROR2):c.1100A>T (p.Asn367Ile) rs2118683614
NM_004560.4(ROR2):c.1189C>T (p.Arg397Ter) rs1308509155
NM_004560.4(ROR2):c.1516A>T (p.Ile506Phe) rs2118626297
NM_004560.4(ROR2):c.1855C>A (p.Arg619Ser) rs1489361512
NM_004560.4(ROR2):c.2074C>A (p.Pro692Thr) rs2118616453
NM_004560.4(ROR2):c.2207G>A (p.Arg736Gln) rs980417569
NM_004560.4(ROR2):c.2215T>C (p.Phe739Leu) rs767802430
NM_004560.4(ROR2):c.248G>A (p.Cys83Tyr) rs1434209233
NM_004560.4(ROR2):c.2T>G (p.Met1Arg) rs2118126851
NM_004560.4(ROR2):c.323G>A (p.Arg108Gln) rs1587690611
NM_004560.4(ROR2):c.355C>T (p.Arg119Ter) rs121909087
NM_004560.4(ROR2):c.494+4_494+7del rs2118839436
NM_004560.4(ROR2):c.613C>T (p.Arg205Ter) rs121909086
NM_004560.4(ROR2):c.623-11G>A rs1350375399
NM_004560.4(ROR2):c.675del (p.Gln225fs) rs2118702517
NM_004560.4(ROR2):c.717C>A (p.Cys239Ter) rs56302651
NM_004560.4(ROR2):c.79_80del (p.Ser29fs) rs2118125646
NM_004560.4(ROR2):c.899G>T (p.Cys300Phe) rs2118699409
NM_004560.4(ROR2):c.990del (p.Thr331fs) rs1837228121
NM_004608.4(TBX6):c.1169dup (p.His391fs) rs879253776
NM_004608.4(TBX6):c.1179_1180del (p.Gly395fs) rs879253857
NM_004608.4(TBX6):c.1250dup (p.Leu419fs) rs786204039
NM_004608.4(TBX6):c.266dup (p.Val91fs) rs786204040
NM_004608.4(TBX6):c.704dup (p.Met236fs) rs758051786
NM_004674.5(ASH2L):c.1726A>G (p.Ile576Val) rs1060499744
NM_004750.5(CRLF1):c.985dup (p.Glu329fs) rs1600650861
NM_004780.3(TCEAL1):c.169del (p.Leu57fs) rs2147641837
NM_004780.3(TCEAL1):c.259C>T (p.Gln87Ter) rs2147641920
NM_004780.3(TCEAL1):c.269G>A (p.Cys90Tyr) rs2147641927
NM_004780.3(TCEAL1):c.299_302del (p.Gly100fs) rs2147641982
NM_004780.3(TCEAL1):c.447G>A (p.Trp149Ter) rs2147642131
NM_004826.4(ECEL1):c.1147C>T (p.Gln383Ter) rs1190799930
NM_004826.4(ECEL1):c.1581+1G>A rs1575076514
NM_004826.4(ECEL1):c.1630C>T (p.Arg544Cys) rs753016147
NM_004826.4(ECEL1):c.1916C>T (p.Ser639Phe) rs768971199
NM_004826.4(ECEL1):c.505_529del (p.Gly169fs) rs767987856
NM_004850.5(ROCK2):c.3724C>T (p.Gln1242Ter) rs1558277937
NM_004963.4(GUCY2C):c.410T>C (p.Leu137Ser) rs1057519441
NM_005026.5(PIK3CD):c.1573G>A (p.Glu525Lys) rs587777389
NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu) rs2147577404
NM_005032.7(PLS3):c.617C>T (p.Ala206Val) rs2147551760
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005159.5(ACTC1):c.524_525insC (p.Ala176fs) rs1555418832
NM_005159.5(ACTC1):c.944T>A (p.Met315Lys) rs1555418685
NM_005199.5(CHRNG):c.241C>T (p.Gln81Ter) rs1574643342
NM_005327.7(HADH):c.349G>T (p.Val117Leu) rs146732064
NM_005445.4(SMC3):c.2536-5_2541del rs727503775
NM_005523.6(HOXA11):c.304G>A (p.Val102Met) rs780070206
NM_005560.6(LAMA5):c.7114G>A (p.Asp2372Asn) rs111653839
NM_005612.5(REST):c.1310T>A (p.Leu437Ter) rs1553904077
NM_005612.5(REST):c.2413del (p.Leu805fs) rs1553904346
NM_005612.5(REST):c.2865_2866del (p.Asn958fs) rs1553904481
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys) rs587777277
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg) rs587777275
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro) rs587777274
NM_005654.6(NR2F1):c.413G>A (p.Cys138Tyr) rs1057519434
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro) rs587777276
NM_005660.3(SLC35A2):c.800A>G (p.Tyr267Cys) rs869312860
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn) rs201170917
NM_005876.5(SPEG):c.9575C>A (p.Thr3192Asn) rs534715710
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_006009.4(TUBA1A):c.920C>T (p.Pro307Leu) rs1555162325
NM_006030.4(CACNA2D2):c.1778G>C (p.Arg593Pro) rs1485894376
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp) rs1555625363
NM_006096.4(NDRG1):c.389+92_594+1717dup
NM_006295.3(VARS1):c.2653C>T (p.Leu885Phe) rs1060499734
NM_006306.4(SMC1A):c.121C>T (p.Leu41Phe) rs727503776
NM_006306.4(SMC1A):c.2974-2A>G rs727503774
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del) rs727503773
NM_006393.3(NEBL):c.2473C>T (p.His825Tyr) rs1554774990
NM_006421.5(ARFGEF1):c.2524C>T (p.Gln842Ter) rs1840507738
NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys) rs587777513
NM_006439.5(MAB21L2):c.151C>T (p.Arg51Cys) rs587777512
NM_006439.5(MAB21L2):c.152G>A (p.Arg51His) rs587777511
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys) rs397514610
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006659.4(TUBGCP2):c.1843G>C (p.Ala615Pro) rs1449999247
NM_006659.4(TUBGCP2):c.2025-2A>G rs1589822227
NM_006736.6(DNAJB2):c.310del (p.Arg104fs) rs879253868
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006831.3(CLP1):c.419G>A (p.Arg140His) rs587777616
NM_006901.4(MYO9A):c.6845G>A (p.Gly2282Glu) rs1567176190
NM_006940.6(SOX5):c.1831C>G (p.Arg611Gly) rs869312867
NM_007013.4(WWP1):c.1879A>T (p.Met627Leu) rs773370868
NM_007050.6(PTPRT):c.1561-3C>T rs1060499749
NM_007074.3(CORO1A):c.[1078delC];[248_249delCT]
NM_007192.4(SUPT16H):c.956-1G>A rs1566388186
NM_007327.4(GRIN1):c.679G>C (p.Asp227His)
NM_012123.4(MTO1):c.1787T>A (p.Leu596Gln) rs1060499776
NM_012437.6(SNAPIN):c.163C>T (p.Arg55Trp) rs1060499751
NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) rs1114167291
NM_013275.6(ANKRD11):c.6793del (p.Ala2265fs) rs2151733504
NM_013382.7(POMT2):c.431T>G (p.Met144Arg) rs1060499766
NM_013438.5(UBQLN1):c.377del (p.Asn126fs) rs1060499753
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter) rs752059006
NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser) rs549149043
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro) rs764483792
NM_014681.6(DHX34):c.466C>T (p.Gln156Ter) rs1599751192
NM_014683.4(ULK2):c.1733A>G (p.His578Arg) rs1060499754
NM_014795.4(ZEB2):c.271_277del (p.Gly91fs) rs1060499770
NM_014795.4(ZEB2):c.3146A>C (p.His1049Pro) rs1114167349
NM_014874.4(MFN2):c.1946G>C (p.Arg649Pro) rs763492075
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.479T>G (p.Val160Gly) rs879253861
NM_014874.4(MFN2):c.526G>A (p.Gly176Ser) rs879253862
NM_014874.4(MFN2):c.730G>A (p.Val244Met) rs879253777
NM_014874.4(MFN2):c.730G>T (p.Val244Leu) rs879253777
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe) rs794729198
NM_014877.4(HELZ):c.3322A>G (p.Ile1108Val) rs1060499747
NM_014946.4(SPAST):c.-112_415+1779del
NM_014946.4(SPAST):c.1099-1062_1246-1342del
NM_014946.4(SPAST):c.1099-956_1246-1672del
NM_014946.4(SPAST):c.1174-270_1246-1724dup
NM_014946.4(SPAST):c.1246-2897_1493+523dup
NM_014946.4(SPAST):c.1494-1393_1688-466dup
NM_014946.4(SPAST):c.1688-378_1728+1541del
NM_014946.4(SPAST):c.1729-3331_*1641del
NM_014946.4(SPAST):c.1729-884_*1715del
NM_014946.4(SPAST):c.683-1277_870+399del
NM_014946.4(SPAST):c.683-7033_1004+30del
NM_014946.4(SPAST):c.690_1099-4223del
NM_014946.4(SPAST):c.871-368_1098+4142del
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) rs879253866
NM_015047.3(EMC1):c.1411G>C (p.Gly471Arg) rs879253819
NM_015047.3(EMC1):c.2602G>A (p.Gly868Arg) rs869320626
NM_015047.3(EMC1):c.2619_2622del (p.Pro874fs) rs869320624
NM_015100.4(POGZ):c.2321_2324del (p.Ser774fs) rs864321671
NM_015100.4(POGZ):c.2763dup (p.Thr922fs) rs864321672
NM_015100.4(POGZ):c.2780dup (p.Leu927fs) rs864321675
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter) rs864321674
NM_015100.4(POGZ):c.833C>G (p.Ser278Ter) rs864321673
NM_015114.3(ANKLE2):c.1717C>G (p.Leu573Val) rs863225465
NM_015158.5(KANK1):c.3237C>G (p.Ile1079Met) rs372628779
NM_015160.3(PMPCA):c.64C>T (p.Arg22Trp) rs1057519454
NM_015166.4(MLC1):c.617G>T (p.Gly206Val) rs1114167286
NM_015192.4(PLCB1):c.2179T>A (p.Trp727Arg) rs1060499765
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys) rs879253864
NM_015271.5(TRIM2):c.2000A>C (p.Asp667Ala) rs879253863
NM_015310.4(PSD3):c.437T>C (p.Ile146Thr) rs1586289298
NM_015375.3(DSTYK):c.1253A>G (p.Asp418Gly) rs555607162
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
NM_015599.3(PGM3):c.1352A>G (p.Gln451Arg) rs587777565
NM_015599.3(PGM3):c.715G>C (p.Asp239His) rs869312886
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_015599.3(PGM3):c.737dup (p.Asn246fs) rs587777564
NM_015975.5(TAF9B):c.133C>A (p.Arg45Ser) rs1603400129
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr) rs373730800
NM_016146.6(TRAPPC4):c.638_*4del (p.Gly213_Ter220delinsXaa) rs1943450738
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter) rs749597091
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His) rs775756069
NM_016556.4(PSMC3IP):c.614del (p.Glu205fs) rs1597722169
NM_016562.4(TLR7):c.1521T>G (p.Phe507Leu) rs2147245859
NM_016648.4(LARP7):c.832A>T (p.Lys278Ter) rs1060499762
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) rs886043030
NM_017780.4(CHD7):c.2442+2449_2498+259del
NM_017827.4(SARS2):c.1042T>C (p.Phe348Leu) rs1114167285
NM_018055.5(NODAL):c.194-1G>T rs1564667617
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter) rs1447874899
NM_018055.5(NODAL):c.700_707del (p.Arg234fs) rs1564667180
NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter) rs771920114
NM_018076.5(ODAD2):c.2495+1G>A rs879253744
NM_018076.5(ODAD2):c.2675C>A (p.Ser892Ter) rs587777049
NM_018076.5(ODAD2):c.2712del (p.Ile905fs) rs587777048
NM_018076.5(ODAD2):c.2780T>G (p.Leu927Trp) rs587777047
NM_018076.5(ODAD2):c.382+995_936+335del
NM_018094.5(GSPT2):c.1021G>A (p.Val341Ile) rs1057519440
NM_018125.4(ARHGEF10L):c.3646G>A (p.Asp1216Asn) rs149908903
NM_018136.5(ASPM):c.1729_1730del (p.Ser577fs) rs199422146
NM_018136.5(ASPM):c.6928C>T (p.Gln2310Ter) rs745997770
NM_018136.5(ASPM):c.7573_7574del (p.Glu2525fs) rs1060499757
NM_018136.5(ASPM):c.9084+5G>A rs1060499758
NM_018136.5(ASPM):c.972_973del (p.Asn324fs) rs765275884
NM_018297.4(NGLY1):c.314T>G (p.Ile105Ser) rs1060499777
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu) rs1057519439
NM_019026.6(TMCO1):c.323+3G>C rs372701032
NM_019112.4(ABCA7):c.5092C>T (p.Arg1698Trp) rs761891139
NM_020191.4(MRPS22):c.404G>A (p.Arg135Gln) rs774237195
NM_020297.4(ABCC9):c.2019+2T>C rs1555100687
NM_020297.4(ABCC9):c.448A>G (p.Ile150Val) rs1555117063
NM_020693.4(DSCAML1):c.1231G>A (p.Val411Ile) rs759222737
NM_020751.3(COG6):c.726del (p.Cys242fs) rs1593421620
NM_020824.4(ARHGAP21):c.3491T>G (p.Ile1164Arg) rs1060499743
NM_020971.3(SPTBN4):c.6433G>A (p.Ala2145Thr) rs1599821186
NM_020987.5(ANK3):c.9652C>T (p.Leu3218Phe) rs1060499742
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His) rs767983680
NM_021222.3(PRUNE1):c.88G>A (p.Asp30Asn) rs1057521927
NM_021242.6(MID1IP1):c.297C>G (p.Asn99Lys) rs1602158924
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021939.4(FKBP10):c.890_897dup (p.Gly300Ter) rs1567855132
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter) rs150331292
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs) rs753460205
NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter) rs749190523
NM_022114.4(PRDM16):c.1642C>A (p.Pro548Thr) rs866090726
NM_022114.4(PRDM16):c.2855C>T (p.Thr952Met) rs749180764
NM_022450.5(RHBDF1):c.14G>A (p.Arg5His) rs376110986
NM_022450.5(RHBDF1):c.47A>C (p.Lys16Thr) rs999812302
NM_022455.5(NSD1):c.6537dup (p.Ser2180fs) rs879253860
NM_022463.5(NXN):c.625C>T (p.Arg209Ter) rs1555610590
NM_022463.5(NXN):c.817C>T (p.Gln273Ter) rs1912687309
NM_024072.4(DDX54):c.647A>G (p.Asn216Ser) rs764707570
NM_024072.4(DDX54):c.892C>T (p.Leu298Phe) rs1593005589
NM_024105.4(ALG12):c.1001del (p.Asn334fs) rs759244819
NM_024548.4(CEP97):c.1148A>G (p.His383Arg) rs1060499739
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024577.4(SH3TC2):c.1A>G (p.Met1Val) rs864309709
NM_024577.4(SH3TC2):c.820_821insT (p.Lys274fs) rs879253859
NM_024592.5(SRD5A3):c.320G>A (p.Trp107Ter) rs267607093
NM_024596.5(MCPH1):c.427dup (p.Thr143fs) rs199422125
NM_024989.4(PGAP1):c.274_276del (p.Pro92del) rs869025579
NM_024989.4(PGAP1):c.921_925del (p.Lys308fs) rs869025580
NM_025137.4(SPG11):c.5175del (p.Ala1726fs) rs1060499768
NM_030624.3(KLHL15):c.1474G>A (p.Val492Ile) rs1060499748
NM_030662.4(MAP2K2):c.210_212del (p.Asp71del) rs1114167351
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro) rs1114167296
NM_031448.6(C19orf12):c.161G>T (p.Gly54Val) rs752450983
NM_032141.4(NSRP1):c.1272dup (p.Lys425fs) rs1485203990
NM_032141.4(NSRP1):c.1359_1362del (p.Glu455fs) rs2143011593
NM_032141.4(NSRP1):c.52C>T (p.Gln18Ter) rs2151869859
NM_032208.3(ANTXR1):c.1150G>A (p.Gly384Ser) rs869312897
NM_032208.3(ANTXR1):c.1221dup (p.Ala408fs) rs869312895
NM_032208.3(ANTXR1):c.411A>G (p.Gln137=) rs869312896
NM_032242.4(PLXNA1):c.1574_1575del (p.Leu525fs) rs2079056783
NM_032242.4(PLXNA1):c.231C>G (p.Asn77Lys) rs749105753
NM_032242.4(PLXNA1):c.2446T>C (p.Cys816Arg) rs2079109807
NM_032242.4(PLXNA1):c.356T>C (p.Leu119Pro) rs2107620082
NM_032242.4(PLXNA1):c.5242C>T (p.Arg1748Cys) rs2079215968
NM_032348.4(MXRA8):c.1238T>A (p.Ile413Asn) rs374879755
NM_032447.5(FBN3):c.1883C>T (p.Ser628Phe) rs1036274195
NM_032536.4(NTNG2):c.1065C>G (p.Cys355Trp) rs1589568476
NM_032536.4(NTNG2):c.1076C>G (p.Ser359Cys) rs1589568530
NM_032536.4(NTNG2):c.1367G>A (p.Cys456Tyr) rs1589576879
NM_032536.4(NTNG2):c.242G>A (p.Cys81Tyr) rs1589440982
NM_032536.4(NTNG2):c.319T>G (p.Trp107Gly) rs1589441229
NM_032536.4(NTNG2):c.446T>C (p.Met149Thr) rs1589441679
NM_032536.4(NTNG2):c.599C>T (p.Ser200Leu) rs1227245973
NM_032630.3(CINP):c.637T>G (p.Ter213Gly) rs1060499740
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys) rs1060499737
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
NM_032888.4(COL27A1):c.4979_4983del (p.Gly1660fs) rs1829064231
NM_033066.3(MPP4):c.946T>C (p.Trp316Arg) rs1057519443
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_052867.4(NALCN):c.1639A>G (p.Met547Val) rs1057519432
NM_052867.4(NALCN):c.965T>C (p.Ile322Thr) rs1057519433
NM_052988.5(CDK10):c.725C>G (p.Thr242Ser) rs1060499745
NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser) rs1925470890
NM_058169.6(BORCS5):c.203-1G>T rs1555155556
NM_130797.4(DPP6):c.1091C>G (p.Pro364Arg) rs756673341
NM_133372.3(FNIP1):c.2753_2756del (p.Lys918fs) rs1554092867
NM_133372.3(FNIP1):c.455+1G>A rs1554096246
NM_133433.4(NIPBL):c.1808del (p.Lys603fs) rs727503767
NM_133433.4(NIPBL):c.2149_2150del (p.Lys717fs) rs727503766
NM_133433.4(NIPBL):c.4321G>T (p.Val1441Leu) rs727503769
NM_133433.4(NIPBL):c.5214dup (p.Ser1739Ter) rs730880331
NM_133433.4(NIPBL):c.64+1G>A rs587784009
NM_133433.4(NIPBL):c.65-3T>G rs727503768
NM_133433.4(NIPBL):c.7637T>C (p.Leu2546Pro) rs727503772
NM_133433.4(NIPBL):c.771+1G>A rs587784048
NM_133433.4(NIPBL):c.7903_7940del (p.Glu2635fs) rs727503771
NM_133433.4(NIPBL):c.914C>A (p.Ser305Ter) rs727503770
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) rs1057519442
NM_138425.4(C12orf57):c.53-2A>G rs1114167293
NM_138615.3(DHX30):c.1478G>A (p.Arg493His) rs1057519436
NM_138615.3(DHX30):c.1685A>G (p.His562Arg) rs1060499733
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp) rs753242774
NM_139276.3(STAT3):c.1032G>C (p.Gln344His) rs869312887
NM_139276.3(STAT3):c.1057G>T (p.Val353Phe) rs869312891
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys) rs193922717
NM_139276.3(STAT3):c.1260T>G (p.Asn420Lys) rs869312893
NM_139276.3(STAT3):c.1261G>A (p.Gly421Arg) rs869312888
NM_139276.3(STAT3):c.1988C>T (p.Thr663Ile) rs869312889
NM_139276.3(STAT3):c.2107G>A (p.Ala703Thr) rs869312894
NM_139276.3(STAT3):c.2147C>T (p.Thr716Met) rs869312892
NM_139276.3(STAT3):c.454C>T (p.Arg152Trp) rs869312890
NM_139278.4(LGI3):c.102dup (p.Lys35fs) rs749644081
NM_139278.4(LGI3):c.1117del (p.Trp373fs) rs2131791254
NM_139278.4(LGI3):c.335C>A (p.Ser112Ter) rs769376680
NM_139278.4(LGI3):c.422T>A (p.Leu141His) rs2131796689
NM_139278.4(LGI3):c.494+1G>C rs1827450545
NM_139278.4(LGI3):c.830-1G>A rs2131791741
NM_139278.4(LGI3):c.937del (p.Thr313fs) rs2131791567
NM_139315.3(TAF6):c.136C>T (p.Arg46Cys) rs727503778
NM_145030.4(PPP1R35):c.753_*3delinsCG (p.Trp251fs)
NM_147191.1(MMP21):c.557G>T (p.Ser186Ile) rs1312300020
NM_152269.5(MTRFR):c.248del (p.Val83fs) rs587776508
NM_152564.5(VPS13B):c.10885_10887del (p.Leu3629del) rs1554583497
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter) rs386834070
NM_152564.5(VPS13B):c.3G>A (p.Met1Ile) rs1060499779
NM_152564.5(VPS13B):c.412+1G>T rs1057517295
NM_152564.5(VPS13B):c.9517C>T (p.Gln3173Ter) rs1554573990
NM_153252.5(BRWD3):c.592-3T>C rs1602384989
NM_153810.5(CACUL1):c.910_911del (p.Leu304fs) rs1589602023
NM_153816.6(SNX14):c.1672dup (p.Thr558fs) rs1554226470
NM_173495.3(PTCHD1):c.542A>C (p.Lys181Thr) rs1060499778
NM_175866.5(UHMK1):c.1214C>T (p.Pro405Leu) rs869312863
NM_177402.5(SYT2):c.1081G>C (p.Asp361His) rs1572604296
NM_177433.3(MAGED2):c.1003del (p.Gln335fs) rs1114167295
NM_177438.3(DICER1):c.1498A>T (p.Lys500Ter) rs875989782
NM_177438.3(DICER1):c.4050+1G>A rs875989783
NM_177438.3(DICER1):c.4407_4410del (p.Ser1470fs) rs875989784
NM_177438.3(DICER1):c.4633dup (p.Ser1545fs) rs875989781
NM_177438.3(DICER1):c.4754C>G (p.Ser1585Ter) rs875989779
NM_177438.3(DICER1):c.5103C>A (p.Tyr1701Ter) rs875989780
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_178014.4(TUBB):c.860C>T (p.Pro287Leu) rs1554202416
NM_178172.6(GPIHBP1):c.331A>C (p.Thr111Pro) rs587777641
NM_178172.6(GPIHBP1):c.417_433del (p.Pro140fs) rs587777642
NM_178822.5(IGSF10):c.7849del (p.Ala2617fs) rs1577654964
NM_181336.4(LEMD2):c.38T>G (p.Leu13Arg) rs878852983
NM_181703.4(GJA5):c.895G>A (p.Glu299Lys) rs1553226803
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) rs556808514
NM_198569.3(ADGRG6):c.19C>T (p.Arg7Ter) rs749355583
NM_201384.3(PLEC):c.6511A>G (p.Lys2171Glu) rs1554692271
NM_203290.4(POLR1C):c.614del (p.Gly205fs) rs1057519456
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter) rs1114167283
NM_206927.4(SYTL2):c.893del (p.Ser298fs) rs1057519445
Single allele
TM4SF20, 4-KB DEL

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