NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
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_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)
|
rs121918442
|
0.00003
|
NM_000443.4(ABCB4):c.2869C>T (p.Arg957Ter)
|
rs121918440
|
0.00002
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
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.2177C>T (p.Pro726Leu)
|
rs141677867
|
0.00001
|
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter)
|
rs72552780
|
0.00001
|
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter)
|
rs1348610360
|
0.00001
|
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)
|
rs753104429
|
|
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His)
|
rs121918443
|
|
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs)
|
rs387906528
|
|
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)
|
|
|
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)
|
rs1562976061
|
|
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly)
|
rs397514620
|
|
NM_000443.4(ABCB4):c.1635del (p.Ala546fs)
|
|
|
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp)
|
rs121918441
|
|
NM_000443.4(ABCB4):c.1712del (p.Val571fs)
|
rs387906527
|
|
NM_000443.4(ABCB4):c.1733C>T (p.Ala578Val)
|
|
|
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter)
|
rs148792791
|
|
NM_000443.4(ABCB4):c.2044del (p.Asp682fs)
|
rs1562965036
|
|
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs)
|
rs387906529
|
|
NM_000443.4(ABCB4):c.2200G>T (p.Glu734Ter)
|
|
|
NM_000443.4(ABCB4):c.2306_2309del (p.Phe769fs)
|
|
|
NM_000443.4(ABCB4):c.2682+1G>A
|
rs1012575668
|
|
NM_000443.4(ABCB4):c.2683-883_2783+345del
|
|
|
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)
|
rs1808782267
|
|
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
|
|
|
NM_000443.4(ABCB4):c.2864G>T (p.Cys955Phe)
|
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000443.4(ABCB4):c.3077del (p.Lys1026fs)
|
rs1584678508
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000443.4(ABCB4):c.3412del (p.Val1138fs)
|
|
|
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)
|
rs1562945221
|
|
NM_000443.4(ABCB4):c.3770del (p.Gln1257fs)
|
|
|
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs)
|
rs387906526
|
|
NM_000443.4(ABCB4):c.784del (p.Ala262fs)
|
|
|
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)
|
|
|
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter)
|
rs931093296
|
|