NM_000443.4(ABCB4):c.1357-40A>G
|
rs31675
|
0.92657
|
NM_000443.4(ABCB4):c.2211+16C>T
|
rs31668
|
0.92183
|
NM_000443.4(ABCB4):c.3487-16T>C
|
rs31653
|
0.91450
|
NM_000443.4(ABCB4):c.2211+72T>C
|
rs31667
|
0.75307
|
NM_000443.4(ABCB4):c.504C>T (p.Asn168=)
|
rs1202283
|
0.41352
|
NM_000443.4(ABCB4):c.175C>T (p.Leu59=)
|
rs2302387
|
0.23630
|
NM_000443.4(ABCB4):c.711A>T (p.Ile237=)
|
rs2109505
|
0.22260
|
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)
|
rs2230028
|
0.15795
|
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)
|
rs8187801
|
0.02594
|
NM_000443.4(ABCB4):c.147C>T (p.Ser49=)
|
rs8187789
|
0.01759
|
NM_000443.4(ABCB4):c.459T>C (p.Phe153=)
|
rs2230027
|
0.01640
|
NM_000443.4(ABCB4):c.2325G>C (p.Thr775=)
|
rs8187802
|
0.01001
|
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala)
|
rs58238559
|
0.00910
|
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp)
|
rs8187797
|
0.00888
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)
|
rs45624933
|
0.00490
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=)
|
rs45574932
|
0.00325
|
NM_000443.4(ABCB4):c.1893+6T>C
|
rs8187798
|
0.00175
|
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=)
|
rs2230029
|
0.00143
|
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)
|
rs142794414
|
0.00123
|
NM_000443.4(ABCB4):c.217C>G (p.Leu73Val)
|
rs8187788
|
0.00074
|
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)
|
rs138773456
|
0.00073
|
NM_000443.4(ABCB4):c.696C>T (p.Ala232=)
|
rs8187791
|
0.00068
|
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly)
|
rs139042803
|
0.00044
|
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met)
|
rs148052192
|
0.00039
|
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn)
|
rs45476795
|
0.00032
|
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=)
|
rs371394487
|
0.00027
|
NM_000443.4(ABCB4):c.3543G>A (p.Gln1181=)
|
rs140592811
|
0.00025
|
NM_000443.4(ABCB4):c.2137G>A (p.Val713Met)
|
rs373122168
|
0.00019
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
0.00019
|
NM_000443.4(ABCB4):c.1055C>T (p.Pro352Leu)
|
rs199662246
|
0.00018
|
NM_000443.4(ABCB4):c.1784G>A (p.Arg595Gln)
|
rs144398632
|
0.00018
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=)
|
rs199504845
|
0.00016
|
NM_000443.4(ABCB4):c.3553A>G (p.Ile1185Val)
|
rs8187811
|
0.00014
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_000443.4(ABCB4):c.1982G>A (p.Arg661His)
|
rs532332220
|
0.00009
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=)
|
rs545534537
|
0.00006
|
NM_000443.4(ABCB4):c.3231G>A (p.Thr1077=)
|
rs376825608
|
0.00006
|
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=)
|
rs561612231
|
0.00006
|
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met)
|
rs145056464
|
0.00005
|
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)
|
rs143456575
|
0.00004
|
NM_000443.4(ABCB4):c.1778C>T (p.Thr593Met)
|
rs571555115
|
0.00003
|
NM_000443.4(ABCB4):c.1801G>T (p.Ala601Ser)
|
rs1037196284
|
0.00003
|
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.3372C>T (p.Cys1124=)
|
rs886062459
|
0.00002
|
NM_000443.4(ABCB4):c.526C>T (p.Arg176Trp)
|
rs754287486
|
0.00002
|
NM_000443.4(ABCB4):c.697G>A (p.Val233Ile)
|
rs774347020
|
0.00002
|
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter)
|
rs1554407511
|
0.00001
|
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=)
|
rs761918535
|
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.1938T>C (p.Asp646=)
|
rs553616378
|
0.00001
|
NM_000443.4(ABCB4):c.1970G>T (p.Gly657Val)
|
rs367709575
|
0.00001
|
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=)
|
rs747255117
|
0.00001
|
NM_000443.4(ABCB4):c.2177C>T (p.Pro726Leu)
|
rs141677867
|
0.00001
|
NM_000443.4(ABCB4):c.2211G>A (p.Ala737=)
|
rs763404399
|
0.00001
|
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=)
|
rs8187807
|
0.00001
|
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met)
|
rs754565782
|
0.00001
|
NM_000443.4(ABCB4):c.3409C>T (p.Arg1137Trp)
|
rs747453583
|
0.00001
|
NM_000443.4(ABCB4):c.3486+1G>A
|
rs764513998
|
0.00001
|
NM_000443.4(ABCB4):c.3588C>T (p.Leu1196=)
|
rs370310867
|
0.00001
|
NM_000443.4(ABCB4):c.3838T>C (p.Ter1280Arg)
|
rs754770911
|
0.00001
|
NM_000443.4(ABCB4):c.430C>T (p.Arg144Ter)
|
rs72552780
|
0.00001
|
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln)
|
rs863225299
|
0.00001
|
NM_000443.4(ABCB4):c.449G>A (p.Arg150Lys)
|
rs757693457
|
0.00001
|
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu)
|
rs756070393
|
0.00001
|
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter)
|
rs1348610360
|
0.00001
|
NM_000443.4(ABCB4):c.1005+3A>G
|
rs1811389784
|
|
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)
|
rs753104429
|
|
NM_000443.4(ABCB4):c.109G>T (p.Val37Leu)
|
rs1813502867
|
|
NM_000443.4(ABCB4):c.1119+1G>T
|
rs1584750660
|
|
NM_000443.4(ABCB4):c.1119+5G>A
|
rs1584750653
|
|
NM_000443.4(ABCB4):c.1134C>T (p.Asp378=)
|
rs1811153797
|
|
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
|
|
|
NM_000443.4(ABCB4):c.1207T>C (p.Tyr403His)
|
rs121918443
|
|
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala)
|
rs863225298
|
|
NM_000443.4(ABCB4):c.1210C>T (p.Pro404Ser)
|
rs863225298
|
|
NM_000443.4(ABCB4):c.1277C>T (p.Ala426Val)
|
rs1811115234
|
|
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)
|
rs1584747270
|
|
NM_000443.4(ABCB4):c.1328_1329delinsCAA (p.Gln443fs)
|
rs387906528
|
|
NM_000443.4(ABCB4):c.135+26A>G
|
|
|
NM_000443.4(ABCB4):c.1357-2A>C
|
rs1584742063
|
|
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe)
|
rs1562976422
|
|
NM_000443.4(ABCB4):c.1429C>T (p.Gln477Ter)
|
|
|
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)
|
|
|
NM_000443.4(ABCB4):c.1449CAC[1] (p.Thr485del)
|
|
|
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr)
|
rs1562976223
|
|
NM_000443.4(ABCB4):c.147C>A (p.Ser49=)
|
rs8187789
|
|
NM_000443.4(ABCB4):c.153G>A (p.Trp51Ter)
|
|
|
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)
|
rs1562976061
|
|
NM_000443.4(ABCB4):c.1571C>A (p.Thr524Asn)
|
|
|
NM_000443.4(ABCB4):c.1633C>G (p.Arg545Gly)
|
rs397514620
|
|
NM_000443.4(ABCB4):c.1634G>A (p.Arg545His)
|
|
|
NM_000443.4(ABCB4):c.1635del (p.Ala546fs)
|
|
|
NM_000443.4(ABCB4):c.1637C>A (p.Ala546Asp)
|
rs121918441
|
|
NM_000443.4(ABCB4):c.1678A>G (p.Thr560Ala)
|
|
|
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.1858A>G (p.Lys620Glu)
|
rs886062460
|
|
NM_000443.4(ABCB4):c.1906C>T (p.Gln636Ter)
|
|
|
NM_000443.4(ABCB4):c.2044del (p.Asp682fs)
|
rs1562965036
|
|
NM_000443.4(ABCB4):c.2064+5G>A
|
|
|
NM_000443.4(ABCB4):c.2161A>C (p.Asn721His)
|
rs1809631786
|
|
NM_000443.4(ABCB4):c.2169dup (p.Leu724fs)
|
rs387906529
|
|
NM_000443.4(ABCB4):c.2200G>T (p.Glu734Ter)
|
|
|
NM_000443.4(ABCB4):c.2212A>C (p.Ile738Leu)
|
rs1265968550
|
|
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu)
|
rs1809490932
|
|
NM_000443.4(ABCB4):c.2306_2309del (p.Phe769fs)
|
|
|
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val)
|
rs1554401811
|
|
NM_000443.4(ABCB4):c.2340C>A (p.Gly780=)
|
rs148865252
|
|
NM_000443.4(ABCB4):c.2380G>C (p.Ala794Pro)
|
|
|
NM_000443.4(ABCB4):c.2422A>G (p.Asn808Asp)
|
rs1809166231
|
|
NM_000443.4(ABCB4):c.2478+7A>T
|
rs778002144
|
|
NM_000443.4(ABCB4):c.2556C>A (p.Tyr852Ter)
|
rs533310204
|
|
NM_000443.4(ABCB4):c.2590G>T (p.Val864Phe)
|
rs764913373
|
|
NM_000443.4(ABCB4):c.2591T>C (p.Val864Ala)
|
rs1809055658
|
|
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.2782A>G (p.Arg928Gly)
|
rs2116424316
|
|
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
|
|
|
NM_000443.4(ABCB4):c.2861G>A (p.Gly954Asp)
|
|
|
NM_000443.4(ABCB4):c.2864G>T (p.Cys955Phe)
|
|
|
NM_000443.4(ABCB4):c.2876G>C (p.Gly959Ala)
|
|
|
NM_000443.4(ABCB4):c.2882_2883del (p.Tyr961fs)
|
rs1584684209
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000443.4(ABCB4):c.2932T>C (p.Ser978Pro)
|
rs1051861187
|
|
NM_000443.4(ABCB4):c.3077del (p.Lys1026fs)
|
rs1584678508
|
|
NM_000443.4(ABCB4):c.3081+1G>T
|
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000443.4(ABCB4):c.3193C>G (p.Leu1065Val)
|
|
|
NM_000443.4(ABCB4):c.3220G>A (p.Gly1074Arg)
|
|
|
NM_000443.4(ABCB4):c.3224A>T (p.Lys1075Met)
|
rs1187517509
|
|
NM_000443.4(ABCB4):c.3308T>G (p.Leu1103Arg)
|
rs1808202820
|
|
NM_000443.4(ABCB4):c.3412del (p.Val1138fs)
|
|
|
NM_000443.4(ABCB4):c.3434dup (p.Ser1146fs)
|
rs1584671714
|
|
NM_000443.4(ABCB4):c.344+4A>G
|
rs1584768888
|
|
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=)
|
rs1807938184
|
|
NM_000443.4(ABCB4):c.3535C>T (p.Gln1179Ter)
|
rs1584665400
|
|
NM_000443.4(ABCB4):c.3695G>A (p.Arg1232His)
|
rs1160711086
|
|
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)
|
rs1562945221
|
|
NM_000443.4(ABCB4):c.3737A>C (p.Gln1246Pro)
|
|
|
NM_000443.4(ABCB4):c.3770del (p.Gln1257fs)
|
|
|
NM_000443.4(ABCB4):c.3838T>A (p.Ter1280Arg)
|
|
|
NM_000443.4(ABCB4):c.394_400del (p.Tyr132fs)
|
rs387906526
|
|
NM_000443.4(ABCB4):c.511A>G (p.Thr171Ala)
|
rs542995265
|
|
NM_000443.4(ABCB4):c.652del (p.Leu218_Val219insTer)
|
rs1584763429
|
|
NM_000443.4(ABCB4):c.762del (p.Val255fs)
|
|
|
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro)
|
rs1554409388
|
|
NM_000443.4(ABCB4):c.784del (p.Ala262fs)
|
|
|
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)
|
rs551234479
|
|
NM_000443.4(ABCB4):c.834-1G>A
|
rs752563752
|
|
NM_000443.4(ABCB4):c.88_91del (p.Lys30fs)
|
|
|
NM_000443.4(ABCB4):c.893del (p.Asn298fs)
|
rs1584754766
|
|
NM_000443.4(ABCB4):c.905G>A (p.Gly302Asp)
|
rs1584754706
|
|
NM_000443.4(ABCB4):c.944C>A (p.Ala315Asp)
|
|
|
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter)
|
rs931093296
|
|
NM_018849.2(ABCB4):c.[431G>A;1210C>G]
|
|
|