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.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_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)
|
rs121918442
|
0.00003
|
NM_000443.4(ABCB4):c.2211+1G>A
|
rs794727183
|
0.00002
|
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.1006-1G>T
|
rs772823352
|
0.00001
|
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter)
|
rs1554407511
|
0.00001
|
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter)
|
rs376926391
|
0.00001
|
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.2833C>T (p.Gln945Ter)
|
rs886042562
|
0.00001
|
NM_000443.4(ABCB4):c.3486+1G>A
|
rs764513998
|
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
|
NC_000007.13:g.(?_87042913)_(87043053_?)del
|
|
|
NC_000007.13:g.(?_87072615)_(87076541_?)del
|
|
|
NC_000007.13:g.(?_87092054)_(87092244_?)del
|
|
|
NM_000443.4(ABCB4):c.1006-2A>C
|
rs1348606984
|
|
NM_000443.4(ABCB4):c.100del (p.Thr34fs)
|
|
|
NM_000443.4(ABCB4):c.100dup (p.Thr34fs)
|
rs1554417376
|
|
NM_000443.4(ABCB4):c.1015del (p.Ser339fs)
|
rs753104429
|
|
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)
|
rs753104429
|
|
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His)
|
rs121918443
|
|
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
|
|
|
NM_000443.4(ABCB4):c.1318C>T (p.Gln440Ter)
|
|
|
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs)
|
rs387906528
|
|
NM_000443.4(ABCB4):c.1371del (p.Gln458fs)
|
|
|
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)
|
|
|
NM_000443.4(ABCB4):c.1501G>T (p.Glu501Ter)
|
rs1562976167
|
|
NM_000443.4(ABCB4):c.153G>A (p.Trp51Ter)
|
|
|
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)
|
rs1562976061
|
|
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly)
|
rs397514620
|
|
NM_000443.4(ABCB4):c.1635_1648delinsCCATTCAGG (p.Ala546fs)
|
rs1562975541
|
|
NM_000443.4(ABCB4):c.1635del (p.Ala546fs)
|
|
|
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp)
|
rs121918441
|
|
NM_000443.4(ABCB4):c.1690_1702del (p.Asp564fs)
|
|
|
NM_000443.4(ABCB4):c.1712del (p.Val571fs)
|
rs387906527
|
|
NM_000443.4(ABCB4):c.1733C>T (p.Ala578Val)
|
|
|
NM_000443.4(ABCB4):c.1768C>T (p.Arg590Ter)
|
|
|
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter)
|
rs148792791
|
|
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His)
|
rs1810212221
|
|
NM_000443.4(ABCB4):c.1943del (p.Lys648fs)
|
rs1562965250
|
|
NM_000443.4(ABCB4):c.2002C>T (p.Gln668Ter)
|
rs1562965098
|
|
NM_000443.4(ABCB4):c.2044del (p.Asp682fs)
|
rs1562965036
|
|
NM_000443.4(ABCB4):c.2082_2088del (p.Val695fs)
|
rs1562963055
|
|
NM_000443.4(ABCB4):c.2090_2093dup (p.Lys699fs)
|
|
|
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.2316+1G>A
|
rs1562961442
|
|
NM_000443.4(ABCB4):c.2446del (p.Arg816fs)
|
rs1554401344
|
|
NM_000443.4(ABCB4):c.2473C>T (p.Gln825Ter)
|
rs1554401324
|
|
NM_000443.4(ABCB4):c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val863_Val864delinsIleSerValLysHisTer)
|
|
|
NM_000443.4(ABCB4):c.2609C>G (p.Ser870Ter)
|
|
|
NM_000443.4(ABCB4):c.2625_2626delinsAT (p.Met875_Lys876delinsIleTer)
|
rs886043734
|
|
NM_000443.4(ABCB4):c.2626A>T (p.Lys876Ter)
|
rs886043725
|
|
NM_000443.4(ABCB4):c.2653_2654del (p.Arg884_Asp885insTer)
|
rs2116463248
|
|
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.2858C>A (p.Ala953Asp)
|
rs2116406254
|
|
NM_000443.4(ABCB4):c.286+1G>A
|
|
|
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.3081+1G>C
|
rs750829010
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000443.4(ABCB4):c.3280-1G>C
|
rs1562949296
|
|
NM_000443.4(ABCB4):c.3349C>T (p.Gln1117Ter)
|
|
|
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)
|
|
|
NM_000443.4(ABCB4):c.3412del (p.Val1138fs)
|
|
|
NM_000443.4(ABCB4):c.345-2A>G
|
rs1562989885
|
|
NM_000443.4(ABCB4):c.3492T>G (p.Tyr1164Ter)
|
|
|
NM_000443.4(ABCB4):c.3520C>T (p.Gln1174Ter)
|
|
|
NM_000443.4(ABCB4):c.3541C>T (p.Gln1181Ter)
|
|
|
NM_000443.4(ABCB4):c.3608C>G (p.Ser1203Ter)
|
rs748842753
|
|
NM_000443.4(ABCB4):c.3633+1G>T
|
rs1245472904
|
|
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.609dup (p.Ala204fs)
|
rs1562988165
|
|
NM_000443.4(ABCB4):c.749del (p.Ala250fs)
|
|
|
NM_000443.4(ABCB4):c.784del (p.Ala262fs)
|
|
|
NM_000443.4(ABCB4):c.834-2A>G
|
rs1562983531
|
|
NM_000443.4(ABCB4):c.838C>T (p.Gln280Ter)
|
rs755012183
|
|
NM_000443.4(ABCB4):c.879del (p.Ala294fs)
|
rs1326932143
|
|
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)
|
|
|
NM_000443.4(ABCB4):c.91del (p.Arg31fs)
|
|
|
NM_000443.4(ABCB4):c.927T>G (p.Tyr309Ter)
|
rs199504845
|
|
NM_000443.4(ABCB4):c.932C>A (p.Ser311Ter)
|
rs1562983272
|
|
NM_000443.4(ABCB4):c.94A>T (p.Lys32Ter)
|
rs1563009379
|
|
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter)
|
rs931093296
|
|