NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
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rs199841445
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0.00006
|
NM_001374385.1(ATP8B1):c.2286-2A>G
|
rs377132123
|
0.00005
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NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
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rs72549395
|
0.00004
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NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)
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rs199649780
|
0.00002
|
NM_003742.4(ABCB11):c.76+1G>A
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rs1413569310
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0.00002
|
NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)
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rs369860506
|
0.00001
|
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
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rs760750012
|
0.00001
|
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)
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rs756220860
|
0.00001
|
NM_000214.3(JAG1):c.864G>A (p.Trp288Ter)
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|
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NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)
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rs1808782267
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NM_001374385.1(ATP8B1):c.1081del (p.Tyr361fs)
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NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs)
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rs1912544280
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NM_001374385.1(ATP8B1):c.1246_1247del (p.His417fs)
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NM_001374385.1(ATP8B1):c.1429+1G>T
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NM_001374385.1(ATP8B1):c.1581CTT[2] (p.Phe529del)
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rs756395915
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NM_001374385.1(ATP8B1):c.1781T>A (p.Leu594Ter)
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NM_001374385.1(ATP8B1):c.1884del (p.Leu629fs)
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NM_001374385.1(ATP8B1):c.1891C>T (p.Arg631Ter)
|
rs775370485
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NM_001374385.1(ATP8B1):c.1932+1G>A
|
rs1568188537
|
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NM_001374385.1(ATP8B1):c.1943del (p.Asn648fs)
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NM_001374385.1(ATP8B1):c.2418+5G>A
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NM_001374385.1(ATP8B1):c.2558T>C (p.Phe853Ser)
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NM_001374385.1(ATP8B1):c.2807_2810dup (p.Val938fs)
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NM_001374385.1(ATP8B1):c.2876_2877del (p.Phe959fs)
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NM_001374385.1(ATP8B1):c.2940C>G (p.Tyr980Ter)
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NM_001374385.1(ATP8B1):c.2989G>A (p.Val997Met)
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NM_001374385.1(ATP8B1):c.3131C>T (p.Ser1044Leu)
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NM_001374385.1(ATP8B1):c.423G>A (p.Trp141Ter)
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NM_001374385.1(ATP8B1):c.699-2A>G
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NM_001374385.1(ATP8B1):c.736dup (p.Thr246fs)
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NM_001374385.1(ATP8B1):c.773del (p.Thr258fs)
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NM_001374385.1(ATP8B1):c.929dup (p.Ile311fs)
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NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
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NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs)
|
rs2105984736
|
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NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
|
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NM_003742.4(ABCB11):c.1198-2A>C
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NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)
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NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu)
|
rs979738325
|
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NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr)
|
rs753994013
|
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NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)
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NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)
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NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)
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NM_003742.4(ABCB11):c.1709C>T (p.Ala570Val)
|
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NM_003742.4(ABCB11):c.180_181dup (p.Leu61fs)
|
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NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)
|
rs199671371
|
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NM_003742.4(ABCB11):c.2011+1G>T
|
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NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)
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NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
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NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
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NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
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NM_003742.4(ABCB11):c.2281_2282del (p.Gly761fs)
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NM_003742.4(ABCB11):c.2343+1G>C
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NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)
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NM_003742.4(ABCB11):c.2432del (p.Phe811fs)
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NM_003742.4(ABCB11):c.2688del (p.Phe896fs)
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NM_003742.4(ABCB11):c.2702G>T (p.Ser901Ile)
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NM_003742.4(ABCB11):c.2815-2A>G
|
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NM_003742.4(ABCB11):c.2913del (p.Phe971fs)
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NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)
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NM_003742.4(ABCB11):c.3224del (p.Gln1075fs)
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NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
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NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)
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NM_003742.4(ABCB11):c.3945del (p.Thr1316fs)
|
rs886043366
|
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NM_003742.4(ABCB11):c.432dup (p.Tyr145fs)
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NM_003742.4(ABCB11):c.435T>G (p.Tyr145Ter)
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NM_003742.4(ABCB11):c.489G>A (p.Trp163Ter)
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NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
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NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
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NM_003742.4(ABCB11):c.713G>T (p.Gly238Val)
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NM_003742.4(ABCB11):c.798del (p.Phe266fs)
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NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
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NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)
|
rs1418620415
|
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NM_003742.4(ABCB11):c.98+2T>C
|
|
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NM_024408.4(NOTCH2):c.1492T>C (p.Cys498Arg)
|
|
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NM_024408.4(NOTCH2):c.2587C>T (p.Pro863Ser)
|
rs1650362306
|
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