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_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
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_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.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)
|
rs866839234
|
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_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.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.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
|
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
|
|
|
NM_001374385.1(ATP8B1):c.1214_1215del (p.Tyr405fs)
|
|
|
NM_001374385.1(ATP8B1):c.1798C>T (p.Arg600Trp)
|
|
|
NM_001374385.1(ATP8B1):c.2081T>A (p.Ile694Asn)
|
|
|
NM_001374385.1(ATP8B1):c.2941G>A (p.Glu981Lys)
|
|
|
NM_001374385.1(ATP8B1):c.3400+2T>C
|
|
|
NM_001374385.1(ATP8B1):c.3490C>T (p.Arg1164Ter)
|
|
|
NM_001374385.1(ATP8B1):c.3531+1G>A
|
|
|
NM_001374385.1(ATP8B1):c.589_592delinsCTCCA (p.Gly197fs)
|
rs1912903065
|
|
NM_001374385.1(ATP8B1):c.811A>T (p.Arg271Ter)
|
|
|
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
|
|
|
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)
|
|
|
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del)
|
rs1553468235
|
|
NM_003742.4(ABCB11):c.1198-1G>C
|
|
|
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)
|
rs913644236
|
|
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)
|
rs1463057954
|
|
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
|
|
|
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs)
|
rs1064797270
|
|
NM_003742.4(ABCB11):c.2178+1G>T
|
|
|
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)
|
|
|
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)
|
rs1692870573
|
|
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.2842C>T (p.Arg948Cys)
|
rs1559183717
|
|
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.409G>T (p.Glu137Ter)
|
rs1026511416
|
|
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)
|
|
|
NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)
|
|
|