NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)
|
rs142794414
|
0.00123
|
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)
|
rs138773456
|
0.00073
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
0.00019
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
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_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)
|
rs143456575
|
0.00004
|
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)
|
rs1458423947
|
0.00001
|
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp)
|
rs1444056772
|
0.00001
|
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)
|
rs760153272
|
0.00001
|
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln)
|
rs863225299
|
0.00001
|
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
NM_001371395.1(USP53):c.1687del (p.Ser563fs)
|
rs1263067327
|
0.00001
|
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro)
|
rs79176844
|
|
NM_000214.3(JAG1):c.2458+1G>A
|
rs2122600431
|
|
NM_000214.3(JAG1):c.886+1G>A
|
rs1600186024
|
|
NM_000214.3(JAG1):c.903dup (p.Thr302fs)
|
rs2122614562
|
|
NM_000443.4(ABCB4):c.1119+5G>A
|
rs1584750653
|
|
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala)
|
rs863225298
|
|
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)
|
rs1584747270
|
|
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)
|
rs1562976061
|
|
NM_000443.4(ABCB4):c.2682+1G>A
|
rs1012575668
|
|
NM_000443.4(ABCB4):c.344+4A>G
|
rs1584768888
|
|
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)
|
rs1562945221
|
|
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter)
|
rs931093296
|
|
NM_001374385.1(ATP8B1):c.173del (p.Phe58fs)
|
rs1599166106
|
|
NM_001374385.1(ATP8B1):c.3015+1G>T
|
rs1599069873
|
|
NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val)
|
rs1599066459
|
|
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met)
|
rs564811653
|
|
NM_003742.4(ABCB11):c.2076-1G>A
|
rs2105947080
|
|
NM_003742.4(ABCB11):c.2179-1G>A
|
rs2105935255
|
|
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)
|
rs1258387740
|
|
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs)
|
rs2105891349
|
|
NM_018849.2(ABCB4):c.[431G>A;1210C>G]
|
|
|