NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)
|
rs8187791
|
0.00068
|
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met)
|
rs148052192
|
0.00039
|
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val)
|
rs199767035
|
0.00029
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)
|
rs72549401
|
0.00013
|
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
|
rs11568372
|
0.00011
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
|
rs199841445
|
0.00006
|
NM_001374385.1(ATP8B1):c.2286-2A>G
|
rs377132123
|
0.00005
|
NM_001374385.1(ATP8B1):c.1325A>G (p.Asn442Ser)
|
rs755385749
|
0.00004
|
NM_001374385.1(ATP8B1):c.2821C>T (p.Arg941Ter)
|
rs374340059
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_001374385.1(ATP8B1):c.2674G>A (p.Gly892Arg)
|
rs121909098
|
0.00003
|
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)
|
rs886043807
|
0.00003
|
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)
|
rs763782349
|
0.00003
|
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser)
|
rs758339239
|
0.00003
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
NM_001374385.1(ATP8B1):c.2546G>A (p.Arg849Gln)
|
rs144656719
|
0.00002
|
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)
|
rs763526610
|
0.00002
|
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)
|
rs72549396
|
0.00002
|
NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)
|
rs199649780
|
0.00002
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)
|
rs866839234
|
0.00002
|
NM_003742.4(ABCB11):c.76+1G>A
|
rs1413569310
|
0.00002
|
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln)
|
rs1202682161
|
0.00001
|
NM_001374385.1(ATP8B1):c.1804C>T (p.Arg602Ter)
|
rs121909105
|
0.00001
|
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)
|
rs515726137
|
0.00001
|
NM_001374385.1(ATP8B1):c.2097+2T>C
|
rs387906381
|
0.00001
|
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=)
|
rs761575295
|
0.00001
|
NM_001374385.1(ATP8B1):c.2844del (p.Met947_Cys948insTer)
|
rs752757689
|
0.00001
|
NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter)
|
rs1391374865
|
0.00001
|
NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)
|
rs369860506
|
0.00001
|
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)
|
rs72549402
|
0.00001
|
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)
|
rs752043324
|
0.00001
|
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
|
rs760750012
|
0.00001
|
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)
|
rs917981474
|
0.00001
|
NM_003742.4(ABCB11):c.2178+1G>A
|
rs1459273753
|
0.00001
|
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)
|
rs1060499579
|
0.00001
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
NM_003742.4(ABCB11):c.2629G>A (p.Gly877Arg)
|
rs745557569
|
0.00001
|
NM_003742.4(ABCB11):c.2782C>T (p.Arg928Ter)
|
rs756529333
|
0.00001
|
NM_003742.4(ABCB11):c.2783_2787dup (p.Lys930fs)
|
rs752919965
|
0.00001
|
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys)
|
rs72549398
|
0.00001
|
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)
|
rs72549397
|
0.00001
|
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)
|
rs756220860
|
0.00001
|
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)
|
rs748862206
|
0.00001
|
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln)
|
rs758069019
|
0.00001
|
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)
|
rs752992432
|
0.00001
|
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)
|
rs139641883
|
0.00001
|
NM_003742.4(ABCB11):c.611+1G>A
|
rs769134865
|
0.00001
|
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter)
|
rs928915940
|
0.00001
|
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
|
|
|
NG_029843.1:g.23704_55438del
|
|
|
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=)
|
rs1811153797
|
|
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
|
|
|
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)
|
rs1808782267
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro)
|
rs1554409388
|
|
NM_001206979.2(NR1H4):c.419_420insAAA (p.Tyr139_Asn140insLys)
|
rs879255644
|
|
NM_001206979.2(NR1H4):c.526C>T (p.Arg176Ter)
|
rs113090017
|
|
NM_001371395.1(USP53):c.1702G>T (p.Asp568Tyr)
|
|
|
NM_001374385.1(ATP8B1):c.1081del (p.Tyr361fs)
|
|
|
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs)
|
rs1912544280
|
|
NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)
|
|
|
NM_001374385.1(ATP8B1):c.1246_1247del (p.His417fs)
|
|
|
NM_001374385.1(ATP8B1):c.1429+1G>T
|
|
|
NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del)
|
rs756395915
|
|
NM_001374385.1(ATP8B1):c.1781T>A (p.Leu594Ter)
|
|
|
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
|
|
|
NM_001374385.1(ATP8B1):c.1884del (p.Leu629fs)
|
|
|
NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)
|
rs775370485
|
|
NM_001374385.1(ATP8B1):c.1932+1G>A
|
rs1568188537
|
|
NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)
|
|
|
NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
|
|
|
NM_001374385.1(ATP8B1):c.2418+5G>A
|
|
|
NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
|
|
|
NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)
|
|
|
NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)
|
|
|
NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)
|
|
|
NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
|
|
|
NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)
|
|
|
NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)
|
|
|
NM_001374385.1(ATP8B1):c.3400+2T>C
|
|
|
NM_001374385.1(ATP8B1):c.3473T>C (p.Leu1158Pro)
|
rs1909527634
|
|
NM_001374385.1(ATP8B1):c.3490C>T (p.Arg1164Ter)
|
|
|
NM_001374385.1(ATP8B1):c.3494T>A (p.Phe1165Tyr)
|
rs946672182
|
|
NM_001374385.1(ATP8B1):c.3531+1G>A
|
|
|
NM_001374385.1(ATP8B1):c.423G>A (p.Trp141Ter)
|
|
|
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs)
|
rs1912903065
|
|
NM_001374385.1(ATP8B1):c.699-2A>G
|
|
|
NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)
|
|
|
NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)
|
|
|
NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
|
|
|
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
|
|
|
NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)
|
|
|
NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
|
|
|
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)
|
|
|
NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs)
|
rs2105984736
|
|
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del)
|
rs1553468235
|
|
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
|
|
|
NM_003742.4(ABCB11):c.1198-1G>C
|
|
|
NM_003742.4(ABCB11):c.1198-2A>C
|
|
|
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)
|
rs913644236
|
|
NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)
|
|
|
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)
|
rs1463057954
|
|
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
|
|
|
NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu)
|
rs979738325
|
|
NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr)
|
rs753994013
|
|
NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)
|
|
|
NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)
|
|
|
NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)
|
|
|
NM_003742.4(ABCB11):c.1709C>T (p.Ala570Val)
|
|
|
NM_003742.4(ABCB11):c.180_181dup (p.Leu61fs)
|
|
|
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)
|
rs199671371
|
|
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs)
|
rs1064797270
|
|
NM_003742.4(ABCB11):c.2011+1G>T
|
|
|
NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)
|
|
|
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
|
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
|
|
|
NM_003742.4(ABCB11):c.2178+1G>T
|
|
|
NM_003742.4(ABCB11):c.2281_2282del (p.Gly761fs)
|
|
|
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)
|
|
|
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)
|
rs1692870573
|
|
NM_003742.4(ABCB11):c.2343+1G>C
|
|
|
NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)
|
|
|
NM_003742.4(ABCB11):c.2432del (p.Phe811fs)
|
|
|
NM_003742.4(ABCB11):c.2488del (p.Arg830fs)
|
rs756323541
|
|
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)
|
rs376255350
|
|
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
|
|
|
NM_003742.4(ABCB11):c.2688del (p.Phe896fs)
|
|
|
NM_003742.4(ABCB11):c.2702G>T (p.Ser901Ile)
|
|
|
NM_003742.4(ABCB11):c.2815-2A>G
|
|
|
NM_003742.4(ABCB11):c.2842C>T (p.Arg948Cys)
|
rs1559183717
|
|
NM_003742.4(ABCB11):c.2913del (p.Phe971fs)
|
|
|
NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)
|
|
|
NM_003742.4(ABCB11):c.3224del (p.Gln1075fs)
|
|
|
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)
|
rs764581483
|
|
NM_003742.4(ABCB11):c.3491del (p.Val1164fs)
|
rs755647308
|
|
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)
|
rs1691232631
|
|
NM_003742.4(ABCB11):c.379del (p.Thr127fs)
|
rs1558927163
|
|
NM_003742.4(ABCB11):c.3804del (p.Thr1269fs)
|
rs1231877314
|
|
NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
|
NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)
|
|
|
NM_003742.4(ABCB11):c.3945del (p.Thr1316fs)
|
rs886043366
|
|
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter)
|
rs1026511416
|
|
NM_003742.4(ABCB11):c.432dup (p.Tyr145fs)
|
|
|
NM_003742.4(ABCB11):c.435T>G (p.Tyr145Ter)
|
|
|
NM_003742.4(ABCB11):c.489G>A (p.Trp163Ter)
|
|
|
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)
|
|
|
NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
|
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_003742.4(ABCB11):c.713G>T (p.Gly238Val)
|
|
|
NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)
|
|
|
NM_003742.4(ABCB11):c.798del (p.Phe266fs)
|
|
|
NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
|
|
|
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)
|
rs1418620415
|
|
NM_003742.4(ABCB11):c.98+2T>C
|
|
|
NM_004817.4(TJP2):c.1243del (p.Ser415fs)
|
rs1057518679
|
|
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter)
|
rs1830481830
|
|
NM_152672.6(SLC51A):c.437G>A (p.Arg146Lys)
|
|
|