NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)
|
rs397515426
|
0.00014
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)
|
rs141601766
|
0.00012
|
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln)
|
rs368488511
|
0.00008
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_198253.3(TERT):c.-57A>C
|
rs878855297
|
0.00006
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs)
|
rs587783393
|
0.00004
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val)
|
rs121918311
|
0.00002
|
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)
|
rs372436901
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val)
|
rs1283652721
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_001195553.2(DCX):c.587G>A (p.Arg196His)
|
rs56030372
|
0.00001
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)
|
rs587784332
|
0.00001
|
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys)
|
rs587784337
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu)
|
rs587783517
|
0.00001
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter)
|
rs797045330
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)
|
rs797045336
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)
|
rs151340631
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000052.7(ATP7A):c.1946+1G>C
|
rs797045340
|
|
NM_000052.7(ATP7A):c.1946+5G>A
|
rs797045341
|
|
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)
|
rs797045344
|
|
NM_000052.7(ATP7A):c.2172+5G>C
|
rs797045347
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter)
|
rs797045351
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2499-1G>A
|
rs797045359
|
|
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu)
|
rs797045360
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp)
|
rs72554652
|
|
NM_000052.7(ATP7A):c.3112-1G>A
|
rs797045367
|
|
NM_000052.7(ATP7A):c.3801+1G>T
|
rs797045386
|
|
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg)
|
rs797045390
|
|
NM_000052.7(ATP7A):c.4005+1G>T
|
rs797045391
|
|
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del)
|
rs797045392
|
|
NM_000052.7(ATP7A):c.4123+1G>A
|
rs797045393
|
|
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs)
|
rs797045395
|
|
NM_000052.7(ATP7A):c.4226+5G>A
|
rs797045398
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro)
|
rs587783307
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
NM_000162.5(GCK):c.629T>C (p.Met210Thr)
|
rs80356654
|
|
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)
|
rs587783783
|
|
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)
|
rs587783789
|
|
NM_000252.3(MTM1):c.145G>A (p.Val49Ile)
|
rs587783796
|
|
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)
|
rs587783818
|
|
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)
|
rs587783842
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000384.3(APOB):c.10848del (p.Gly3617fs)
|
rs982371659
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser)
|
rs61754452
|
|
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)
|
rs61754453
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001195553.2(DCX):c.364G>A (p.Gly122Arg)
|
rs587783544
|
|
NM_001195553.2(DCX):c.557G>A (p.Arg186His)
|
rs587783563
|
|
NM_001195553.2(DCX):c.586C>A (p.Arg196Ser)
|
rs587783568
|
|
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg)
|
rs587783577
|
|
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs)
|
rs797045841
|
|
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
|
rs267608437
|
|
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)
|
rs879255584
|
|
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)
|
rs587784346
|
|
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter)
|
rs747485179
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
|
rs587784023
|
|
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro)
|
rs587783653
|
|