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
|
|
|