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.2394+201del
|
rs368480654
|
0.78573
|
NM_000443.4(ABCB4):c.2211+72T>C
|
rs31667
|
0.75307
|
NM_000443.4(ABCB4):c.3634-191T>C
|
rs1526090
|
0.70722
|
NM_000443.4(ABCB4):c.1357-162A>G
|
rs31676
|
0.67448
|
NM_000443.4(ABCB4):c.504C>T (p.Asn168=)
|
rs1202283
|
0.41352
|
NM_000443.4(ABCB4):c.136-152T>C
|
rs4148813
|
0.30389
|
NM_000443.4(ABCB4):c.1006-128A>G
|
rs4148826
|
0.27818
|
NM_000443.4(ABCB4):c.708+241A>G
|
rs2270187
|
0.27087
|
NM_000443.4(ABCB4):c.536+218T>C
|
rs1473154
|
0.27084
|
NM_000443.4(ABCB4):c.344+113A>G
|
rs4148818
|
0.27080
|
NM_000443.4(ABCB4):c.833+215A>G
|
rs1558375
|
0.26931
|
NM_000443.4(ABCB4):c.833+181A>T
|
rs1558376
|
0.26926
|
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.709-194C>G
|
rs4148821
|
0.22174
|
NM_000443.4(ABCB4):c.537-239T>C
|
rs2072383
|
0.18982
|
NM_000443.4(ABCB4):c.286+248A>G
|
rs2302385
|
0.18918
|
NM_000443.4(ABCB4):c.1954A>G (p.Arg652Gly)
|
rs2230028
|
0.15795
|
NM_000443.4(ABCB4):c.2064+55A>G
|
rs1017054
|
0.15706
|
NM_000443.4(ABCB4):c.3634-72T>C
|
rs45549641
|
0.13537
|
NM_000443.4(ABCB4):c.3633+200C>A
|
rs45437295
|
0.13491
|
NM_000443.4(ABCB4):c.3279+195C>G
|
rs45443210
|
0.13471
|
NM_000443.4(ABCB4):c.1356+130G>T
|
rs17149606
|
0.11581
|
NM_000443.4(ABCB4):c.2682+158T>C
|
rs4148829
|
0.10930
|
NM_000443.4(ABCB4):c.2478+40A>G
|
rs7788404
|
0.10700
|
NM_000443.4(ABCB4):c.2479-208G>A
|
rs35737120
|
0.10535
|
NM_000443.4(ABCB4):c.3280-295C>T
|
rs10487804
|
0.05653
|
NM_000443.4(ABCB4):c.2683-197T>C
|
rs17149547
|
0.05643
|
NM_000443.4(ABCB4):c.135+171A>G
|
rs45590732
|
0.05000
|
NM_000443.4(ABCB4):c.1893+278G>A
|
rs45518541
|
0.04362
|
NM_000443.4(ABCB4):c.2064+131A>G
|
rs45535132
|
0.04357
|
NM_000443.4(ABCB4):c.2064+140A>G
|
rs45572146
|
0.04354
|
NM_000443.4(ABCB4):c.287-61C>T
|
rs45626341
|
0.03353
|
NM_000443.4(ABCB4):c.1005+206G>A
|
rs4148823
|
0.02981
|
NM_000443.4(ABCB4):c.2924+65T>A
|
rs17149542
|
0.02751
|
NM_000443.4(ABCB4):c.3082-119C>T
|
rs45484901
|
0.02751
|
NM_000443.4(ABCB4):c.136-314C>T
|
rs17149674
|
0.02617
|
NM_000443.4(ABCB4):c.2363G>A (p.Arg788Gln)
|
rs8187801
|
0.02594
|
NM_000443.4(ABCB4):c.135+257A>G
|
rs45512791
|
0.02572
|
NM_000443.4(ABCB4):c.135+239T>A
|
rs45461594
|
0.02562
|
NM_000443.4(ABCB4):c.2478+265A>G
|
rs45581440
|
0.02458
|
NM_000443.4(ABCB4):c.2925-154G>T
|
rs31657
|
0.02260
|
NM_000443.4(ABCB4):c.3280-93_3280-91dup
|
rs45516496
|
0.02085
|
NM_000443.4(ABCB4):c.1560+164A>C
|
rs45568342
|
0.01978
|
NM_000443.4(ABCB4):c.1231-70A>G
|
rs45622746
|
0.01975
|
NM_000443.4(ABCB4):c.2394+195G>T
|
rs6978808
|
0.01769
|
NM_000443.4(ABCB4):c.147C>T (p.Ser49=)
|
rs8187789
|
0.01759
|
NM_000443.4(ABCB4):c.3634-228A>C
|
rs45613941
|
0.01736
|
NM_000443.4(ABCB4):c.2784-208T>C
|
rs45458995
|
0.01694
|
NM_000443.4(ABCB4):c.537-160G>A
|
rs45480293
|
0.01658
|
NM_000443.4(ABCB4):c.459T>C (p.Phe153=)
|
rs2230027
|
0.01640
|
NM_000443.4(ABCB4):c.1005+98A>G
|
rs45505300
|
0.01341
|
NM_000443.4(ABCB4):c.136-74C>T
|
rs115043985
|
0.01329
|
NM_000443.4(ABCB4):c.136-81del
|
rs149935119
|
0.01327
|
NM_000443.4(ABCB4):c.1356+26A>G
|
rs45505699
|
0.01051
|
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.80+114G>C
|
rs45619531
|
0.00796
|
NM_000443.4(ABCB4):c.1732-39A>G
|
rs141424866
|
0.00781
|
NM_000443.4(ABCB4):c.81-16A>G
|
rs45552835
|
0.00746
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
NM_000443.4(ABCB4):c.2924+92del
|
rs371806200
|
0.00574
|
NM_000443.4(ABCB4):c.1314G>A (p.Thr438=)
|
rs45624933
|
0.00490
|
NM_000443.4(ABCB4):c.3633+84A>G
|
rs45552036
|
0.00459
|
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.536+11T>C
|
rs8187790
|
0.00315
|
NM_000443.4(ABCB4):c.2395-19C>T
|
rs45593648
|
0.00260
|
NM_000443.4(ABCB4):c.456G>A (p.Lys152=)
|
rs147333055
|
0.00177
|
NM_000443.4(ABCB4):c.1893+6T>C
|
rs8187798
|
0.00175
|
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
|
rs45596335
|
0.00155
|
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.833+6G>A
|
rs202146217
|
0.00064
|
NM_000443.4(ABCB4):c.2394+13G>A
|
rs370406753
|
0.00058
|
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.3298G>A (p.Ala1100Thr)
|
rs31655
|
0.00039
|
NM_000443.4(ABCB4):c.1231-16C>T
|
rs56229233
|
0.00037
|
NM_000443.4(ABCB4):c.1357-17A>G
|
rs201173706
|
0.00037
|
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn)
|
rs45476795
|
0.00032
|
NM_000443.4(ABCB4):c.2395-3T>C
|
rs377462787
|
0.00029
|
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.3000T>C (p.Ala1000=)
|
rs1057495486
|
0.00024
|
NM_000443.4(ABCB4):c.760G>A (p.Ala254Thr)
|
rs147998447
|
0.00023
|
NM_000443.4(ABCB4):c.1313C>T (p.Thr438Met)
|
rs142271471
|
0.00019
|
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.3111T>C (p.Asn1037=)
|
rs8187808
|
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.366A>G (p.Gly122=)
|
rs113445400
|
0.00016
|
NM_000443.4(ABCB4):c.3764C>T (p.Thr1255Met)
|
rs147577035
|
0.00016
|
NM_000443.4(ABCB4):c.80+5A>C
|
rs186976987
|
0.00016
|
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=)
|
rs199504845
|
0.00016
|
NM_000443.4(ABCB4):c.3671G>A (p.Arg1224His)
|
rs144790968
|
0.00012
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
NM_000443.4(ABCB4):c.2065-3T>C
|
rs772471049
|
0.00011
|
NM_000443.4(ABCB4):c.2211+5G>A
|
rs773539504
|
0.00010
|
NM_000443.4(ABCB4):c.2905C>T (p.Arg969Cys)
|
rs748571017
|
0.00010
|
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.3013G>A (p.Ala1005Thr)
|
rs531111327
|
0.00009
|
NM_000443.4(ABCB4):c.3336C>T (p.Leu1112=)
|
rs756982751
|
0.00009
|
NM_000443.4(ABCB4):c.1910T>A (p.Ile637Asn)
|
rs202167250
|
0.00008
|
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)
|
rs368458295
|
0.00008
|
NM_000443.4(ABCB4):c.524C>T (p.Thr175Met)
|
rs746166913
|
0.00007
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000443.4(ABCB4):c.1603G>A (p.Gly535Ser)
|
rs762036555
|
0.00006
|
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=)
|
rs148865252
|
0.00006
|
NM_000443.4(ABCB4):c.2535T>C (p.Gly845=)
|
rs545534537
|
0.00006
|
NM_000443.4(ABCB4):c.3131C>T (p.Pro1044Leu)
|
rs371152960
|
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.3411G>C (p.Arg1137=)
|
rs771437431
|
0.00006
|
NM_000443.4(ABCB4):c.3451G>A (p.Ala1151Thr)
|
rs138850786
|
0.00006
|
NM_000443.4(ABCB4):c.1481G>A (p.Arg494His)
|
rs753652201
|
0.00005
|
NM_000443.4(ABCB4):c.280T>C (p.Phe94Leu)
|
rs567483147
|
0.00005
|
NM_000443.4(ABCB4):c.302C>T (p.Ser101Leu)
|
rs182989205
|
0.00005
|
NM_000443.4(ABCB4):c.3476C>T (p.Thr1159Met)
|
rs145056464
|
0.00005
|
NM_000443.4(ABCB4):c.438C>T (p.Ile146=)
|
rs776179529
|
0.00005
|
NM_000443.4(ABCB4):c.1356+10A>G
|
rs374723850
|
0.00004
|
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)
|
rs143456575
|
0.00004
|
NM_000443.4(ABCB4):c.2581T>G (p.Leu861Val)
|
rs112610863
|
0.00004
|
NM_000443.4(ABCB4):c.1143A>G (p.Ser381=)
|
rs142671969
|
0.00003
|
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=)
|
rs371013005
|
0.00003
|
NM_000443.4(ABCB4):c.2936C>A (p.Ala979Glu)
|
rs374711909
|
0.00003
|
NM_000443.4(ABCB4):c.3415G>T (p.Val1139Leu)
|
rs1035550970
|
0.00003
|
NM_000443.4(ABCB4):c.3481C>T (p.Pro1161Ser)
|
rs121918442
|
0.00003
|
NM_000443.4(ABCB4):c.525G>A (p.Thr175=)
|
rs558416191
|
0.00003
|
NM_000443.4(ABCB4):c.857C>T (p.Ala286Val)
|
rs765478923
|
0.00003
|
NM_000443.4(ABCB4):c.1563A>G (p.Lys521=)
|
rs751681894
|
0.00002
|
NM_000443.4(ABCB4):c.1592C>T (p.Ala531Val)
|
rs144302326
|
0.00002
|
NM_000443.4(ABCB4):c.201C>T (p.His67=)
|
rs747703354
|
0.00002
|
NM_000443.4(ABCB4):c.2211+1G>A
|
rs794727183
|
0.00002
|
NM_000443.4(ABCB4):c.2435C>A (p.Ala812Glu)
|
rs768524721
|
0.00002
|
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=)
|
rs1461886025
|
0.00002
|
NM_000443.4(ABCB4):c.2863T>G (p.Cys955Gly)
|
rs1289876112
|
0.00002
|
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.3381C>T (p.Ala1127=)
|
rs766402494
|
0.00002
|
NM_000443.4(ABCB4):c.3565C>G (p.Leu1189Val)
|
rs766672265
|
0.00002
|
NM_000443.4(ABCB4):c.3664G>A (p.Glu1222Lys)
|
rs752080958
|
0.00002
|
NM_000443.4(ABCB4):c.3676T>G (p.Cys1226Gly)
|
rs769306313
|
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.717G>A (p.Ser239=)
|
rs770169131
|
0.00002
|
NM_000443.4(ABCB4):c.1004C>G (p.Thr335Arg)
|
rs1562983085
|
0.00001
|
NM_000443.4(ABCB4):c.1006-1G>T
|
rs772823352
|
0.00001
|
NM_000443.4(ABCB4):c.1060A>G (p.Ile354Val)
|
rs1432272679
|
0.00001
|
NM_000443.4(ABCB4):c.1063G>A (p.Asp355Asn)
|
rs1216385209
|
0.00001
|
NM_000443.4(ABCB4):c.1119+8A>C
|
rs1471180323
|
0.00001
|
NM_000443.4(ABCB4):c.1119T>C (p.Asn373=)
|
rs1219097474
|
0.00001
|
NM_000443.4(ABCB4):c.1144G>T (p.Glu382Ter)
|
rs1554407511
|
0.00001
|
NM_000443.4(ABCB4):c.1151G>A (p.Gly384Glu)
|
rs886894962
|
0.00001
|
NM_000443.4(ABCB4):c.1217G>A (p.Arg406Gln)
|
rs763807769
|
0.00001
|
NM_000443.4(ABCB4):c.1230+15A>G
|
rs1057522852
|
0.00001
|
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=)
|
rs916276498
|
0.00001
|
NM_000443.4(ABCB4):c.1281G>C (p.Leu427=)
|
rs761918535
|
0.00001
|
NM_000443.4(ABCB4):c.1285G>A (p.Gly429Arg)
|
rs374007494
|
0.00001
|
NM_000443.4(ABCB4):c.139C>T (p.Arg47Ter)
|
rs376926391
|
0.00001
|
NM_000443.4(ABCB4):c.1415T>C (p.Ile472Thr)
|
rs749651405
|
0.00001
|
NM_000443.4(ABCB4):c.1560+16A>G
|
rs769175596
|
0.00001
|
NM_000443.4(ABCB4):c.1560+6G>A
|
rs200043060
|
0.00001
|
NM_000443.4(ABCB4):c.1646G>A (p.Arg549His)
|
rs761238221
|
0.00001
|
NM_000443.4(ABCB4):c.1651C>A (p.Pro551Thr)
|
rs374746433
|
0.00001
|
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)
|
rs1458423947
|
0.00001
|
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=)
|
rs748044865
|
0.00001
|
NM_000443.4(ABCB4):c.174G>A (p.Ser58=)
|
rs772771936
|
0.00001
|
NM_000443.4(ABCB4):c.1821A>C (p.Val607=)
|
rs546820262
|
0.00001
|
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=)
|
rs553616378
|
0.00001
|
NM_000443.4(ABCB4):c.2011C>T (p.Leu671Phe)
|
rs763768493
|
0.00001
|
NM_000443.4(ABCB4):c.2055C>T (p.Thr685=)
|
rs747255117
|
0.00001
|
NM_000443.4(ABCB4):c.2165G>C (p.Gly722Ala)
|
rs779885518
|
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.2289T>G (p.Ile763Met)
|
rs777880618
|
0.00001
|
NM_000443.4(ABCB4):c.240G>A (p.Glu80=)
|
rs8187787
|
0.00001
|
NM_000443.4(ABCB4):c.2619T>G (p.Val873=)
|
rs775357102
|
0.00001
|
NM_000443.4(ABCB4):c.263C>G (p.Thr88Ser)
|
rs1417236795
|
0.00001
|
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=)
|
rs978222245
|
0.00001
|
NM_000443.4(ABCB4):c.2833C>T (p.Gln945Ter)
|
rs886042562
|
0.00001
|
NM_000443.4(ABCB4):c.2899C>T (p.His967Tyr)
|
rs575565764
|
0.00001
|
NM_000443.4(ABCB4):c.3001A>G (p.Lys1001Glu)
|
rs1476260159
|
0.00001
|
NM_000443.4(ABCB4):c.3004C>T (p.Leu1002=)
|
rs1242439596
|
0.00001
|
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=)
|
rs1297237099
|
0.00001
|
NM_000443.4(ABCB4):c.3144C>T (p.Asn1048=)
|
rs8187807
|
0.00001
|
NM_000443.4(ABCB4):c.3179A>C (p.Lys1060Thr)
|
rs373011908
|
0.00001
|
NM_000443.4(ABCB4):c.3230C>T (p.Thr1077Met)
|
rs754565782
|
0.00001
|
NM_000443.4(ABCB4):c.3247G>A (p.Glu1083Lys)
|
rs761598845
|
0.00001
|
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=)
|
rs1435564748
|
0.00001
|
NM_000443.4(ABCB4):c.3280-9G>A
|
rs200617059
|
0.00001
|
NM_000443.4(ABCB4):c.3299C>T (p.Ala1100Val)
|
rs1439704366
|
0.00001
|
NM_000443.4(ABCB4):c.3326G>A (p.Arg1109Lys)
|
rs757931203
|
0.00001
|
NM_000443.4(ABCB4):c.3337G>A (p.Gly1113Arg)
|
rs1282338773
|
0.00001
|
NM_000443.4(ABCB4):c.3347C>G (p.Ser1116Cys)
|
rs373338470
|
0.00001
|
NM_000443.4(ABCB4):c.3431T>C (p.Ile1144Thr)
|
rs372427470
|
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.3633+9G>A
|
rs1554396917
|
0.00001
|
NM_000443.4(ABCB4):c.3811A>C (p.Ser1271Arg)
|
rs768236469
|
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.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
NM_000443.4(ABCB4):c.476G>A (p.Arg159Gln)
|
rs1269792276
|
0.00001
|
NM_000443.4(ABCB4):c.602C>T (p.Thr201Met)
|
rs753318087
|
0.00001
|
NM_000443.4(ABCB4):c.805T>C (p.Phe269Leu)
|
rs756070393
|
0.00001
|
NM_000443.4(ABCB4):c.807C>T (p.Phe269=)
|
rs1421517860
|
0.00001
|
NM_000443.4(ABCB4):c.874A>T (p.Lys292Ter)
|
rs1348610360
|
0.00001
|
NM_000443.4(ABCB4):c.910G>T (p.Ala304Ser)
|
rs773840926
|
0.00001
|
NM_000443.4(ABCB4):c.911C>A (p.Ala304Asp)
|
rs374836252
|
0.00001
|
NM_000443.4(ABCB4):c.928G>A (p.Ala310Thr)
|
rs747932250
|
0.00001
|
NM_000443.4(ABCB4):c.997G>A (p.Ala333Thr)
|
rs780152646
|
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.1005+18C>T
|
|
|
NM_000443.4(ABCB4):c.1005+19A>G
|
|
|
NM_000443.4(ABCB4):c.1005+9T>C
|
|
|
NM_000443.4(ABCB4):c.1006-117del
|
rs147821186
|
|
NM_000443.4(ABCB4):c.1006-17C>A
|
|
|
NM_000443.4(ABCB4):c.1006-17C>G
|
|
|
NM_000443.4(ABCB4):c.1006-2A>C
|
rs1348606984
|
|
NM_000443.4(ABCB4):c.1006-6del
|
|
|
NM_000443.4(ABCB4):c.1007T>C (p.Val336Ala)
|
|
|
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.1029A>G (p.Gly343=)
|
|
|
NM_000443.4(ABCB4):c.102G>T (p.Thr34=)
|
rs1277340029
|
|
NM_000443.4(ABCB4):c.1043G>C (p.Gly348Ala)
|
rs1562981176
|
|
NM_000443.4(ABCB4):c.1119+11T>G
|
|
|
NM_000443.4(ABCB4):c.1119+12A>G
|
|
|
NM_000443.4(ABCB4):c.1119+16T>G
|
|
|
NM_000443.4(ABCB4):c.1119+2T>C
|
|
|
NM_000443.4(ABCB4):c.1119+7C>A
|
|
|
NM_000443.4(ABCB4):c.1119+8A>G
|
|
|
NM_000443.4(ABCB4):c.1120-11del
|
|
|
NM_000443.4(ABCB4):c.1120-4T>C
|
|
|
NM_000443.4(ABCB4):c.1120-8T>A
|
rs1554407521
|
|
NM_000443.4(ABCB4):c.1151G>T (p.Gly384Val)
|
|
|
NM_000443.4(ABCB4):c.1179T>C (p.Asn393=)
|
|
|
NM_000443.4(ABCB4):c.1180T>C (p.Leu394=)
|
|
|
NM_000443.4(ABCB4):c.1200C>T (p.His400=)
|
|
|
NM_000443.4(ABCB4):c.1206T>A (p.Ser402=)
|
|
|
NM_000443.4(ABCB4):c.1216C>T (p.Arg406Ter)
|
|
|
NM_000443.4(ABCB4):c.122G>C (p.Gly41Ala)
|
rs2116986462
|
|
NM_000443.4(ABCB4):c.1230+18T>A
|
|
|
NM_000443.4(ABCB4):c.1230+18T>C
|
|
|
NM_000443.4(ABCB4):c.1230+3A>G
|
rs1562979557
|
|
NM_000443.4(ABCB4):c.1230+7dup
|
|
|
NM_000443.4(ABCB4):c.1231-13A>G
|
|
|
NM_000443.4(ABCB4):c.1231-17del
|
|
|
NM_000443.4(ABCB4):c.1231-17dup
|
|
|
NM_000443.4(ABCB4):c.1231-6T>A
|
|
|
NM_000443.4(ABCB4):c.1231-81del
|
rs3834727
|
|
NM_000443.4(ABCB4):c.1234T>C (p.Leu412=)
|
|
|
NM_000443.4(ABCB4):c.1237A>G (p.Lys413Glu)
|
|
|
NM_000443.4(ABCB4):c.1272G>A (p.Thr424=)
|
|
|
NM_000443.4(ABCB4):c.1281G>A (p.Leu427=)
|
|
|
NM_000443.4(ABCB4):c.1283T>A (p.Val428Asp)
|
rs1811114545
|
|
NM_000443.4(ABCB4):c.1296_1301del (p.Cys433_Gly434del)
|
|
|
NM_000443.4(ABCB4):c.1302G>A (p.Gly434=)
|
|
|
NM_000443.4(ABCB4):c.1318C>T (p.Gln440Ter)
|
|
|
NM_000443.4(ABCB4):c.132A>C (p.Thr44=)
|
|
|
NM_000443.4(ABCB4):c.1335C>G (p.Leu445=)
|
|
|
NM_000443.4(ABCB4):c.1335C>T (p.Leu445=)
|
|
|
NM_000443.4(ABCB4):c.133T>C (p.Leu45=)
|
|
|
NM_000443.4(ABCB4):c.134T>C (p.Leu45Ser)
|
|
|
NM_000443.4(ABCB4):c.135+12A>T
|
|
|
NM_000443.4(ABCB4):c.135+15G>A
|
|
|
NM_000443.4(ABCB4):c.135+16T>A
|
|
|
NM_000443.4(ABCB4):c.135+20A>T
|
|
|
NM_000443.4(ABCB4):c.135+9T>A
|
|
|
NM_000443.4(ABCB4):c.1356+16C>A
|
|
|
NM_000443.4(ABCB4):c.1356+19G>A
|
|
|
NM_000443.4(ABCB4):c.1357-10T>C
|
|
|
NM_000443.4(ABCB4):c.1357-13T>C
|
|
|
NM_000443.4(ABCB4):c.1357-17A>T
|
|
|
NM_000443.4(ABCB4):c.1357-1G>A
|
|
|
NM_000443.4(ABCB4):c.1357-2A>G
|
|
|
NM_000443.4(ABCB4):c.1366G>T (p.Asp456Tyr)
|
rs2116690992
|
|
NM_000443.4(ABCB4):c.1373A>C (p.Gln458Pro)
|
rs1554406652
|
|
NM_000443.4(ABCB4):c.1377T>C (p.Asp459=)
|
|
|
NM_000443.4(ABCB4):c.1378A>T (p.Ile460Phe)
|
rs1562976422
|
|
NM_000443.4(ABCB4):c.1392T>C (p.Asn464=)
|
|
|
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=)
|
rs771303478
|
|
NM_000443.4(ABCB4):c.1436C>T (p.Pro479Leu)
|
|
|
NM_000443.4(ABCB4):c.1437G>A (p.Pro479=)
|
|
|
NM_000443.4(ABCB4):c.1442T>G (p.Leu481Arg)
|
|
|
NM_000443.4(ABCB4):c.1443G>A (p.Leu481=)
|
|
|
NM_000443.4(ABCB4):c.1449C>T (p.Ser483=)
|
|
|
NM_000443.4(ABCB4):c.1467T>C (p.Asn489=)
|
|
|
NM_000443.4(ABCB4):c.1469T>C (p.Ile490Thr)
|
rs1562976223
|
|
NM_000443.4(ABCB4):c.1472G>T (p.Cys491Phe)
|
rs750188186
|
|
NM_000443.4(ABCB4):c.1491A>G (p.Val497=)
|
|
|
NM_000443.4(ABCB4):c.1501G>T (p.Glu501Ter)
|
rs1562976167
|
|
NM_000443.4(ABCB4):c.1529A>T (p.Asn510Ile)
|
|
|
NM_000443.4(ABCB4):c.1530C>T (p.Asn510=)
|
|
|
NM_000443.4(ABCB4):c.1533C>G (p.Ala511=)
|
|
|
NM_000443.4(ABCB4):c.153G>A (p.Trp51Ter)
|
|
|
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)
|
rs1562976061
|
|
NM_000443.4(ABCB4):c.1560+11del
|
|
|
NM_000443.4(ABCB4):c.1560+1G>A
|
rs2116689179
|
|
NM_000443.4(ABCB4):c.1560+20A>G
|
|
|
NM_000443.4(ABCB4):c.1561-11_1561-10del
|
|
|
NM_000443.4(ABCB4):c.1572C>G (p.Thr524=)
|
|
|
NM_000443.4(ABCB4):c.1577T>G (p.Val526Gly)
|
rs1554406429
|
|
NM_000443.4(ABCB4):c.1614G>A (p.Lys538=)
|
|
|
NM_000443.4(ABCB4):c.1623C>T (p.Ile541=)
|
|
|
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.1637C>A (p.Ala546Asp)
|
rs121918441
|
|
NM_000443.4(ABCB4):c.1650C>A (p.Asn550Lys)
|
|
|
NM_000443.4(ABCB4):c.165G>A (p.Leu55=)
|
|
|
NM_000443.4(ABCB4):c.1665G>A (p.Leu555=)
|
|
|
NM_000443.4(ABCB4):c.1668G>C (p.Leu556=)
|
|
|
NM_000443.4(ABCB4):c.1672G>A (p.Glu558Lys)
|
rs1562975478
|
|
NM_000443.4(ABCB4):c.1677C>T (p.Ala559=)
|
|
|
NM_000443.4(ABCB4):c.1679C>T (p.Thr560Met)
|
|
|
NM_000443.4(ABCB4):c.1680G>A (p.Thr560=)
|
|
|
NM_000443.4(ABCB4):c.1683A>G (p.Ser561=)
|
|
|
NM_000443.4(ABCB4):c.1686A>G (p.Ala562=)
|
|
|
NM_000443.4(ABCB4):c.1687T>C (p.Leu563=)
|
|
|
NM_000443.4(ABCB4):c.1690_1702del (p.Asp564fs)
|
|
|
NM_000443.4(ABCB4):c.1692C>T (p.Asp564=)
|
|
|
NM_000443.4(ABCB4):c.1698A>G (p.Glu566=)
|
|
|
NM_000443.4(ABCB4):c.1731+14A>G
|
|
|
NM_000443.4(ABCB4):c.1731+18A>C
|
|
|
NM_000443.4(ABCB4):c.1731+19G>C
|
|
|
NM_000443.4(ABCB4):c.1732-13T>G
|
|
|
NM_000443.4(ABCB4):c.1732-7C>T
|
|
|
NM_000443.4(ABCB4):c.1734C>T (p.Ala578=)
|
|
|
NM_000443.4(ABCB4):c.1767C>T (p.His589=)
|
|
|
NM_000443.4(ABCB4):c.1768C>T (p.Arg590Ter)
|
|
|
NM_000443.4(ABCB4):c.1779G>A (p.Thr593=)
|
|
|
NM_000443.4(ABCB4):c.1783C>T (p.Arg595Ter)
|
rs148792791
|
|
NM_000443.4(ABCB4):c.1792G>A (p.Asp598Asn)
|
|
|
NM_000443.4(ABCB4):c.179G>T (p.Gly60Val)
|
rs1562998632
|
|
NM_000443.4(ABCB4):c.1800C>T (p.Ile600=)
|
|
|
NM_000443.4(ABCB4):c.1806G>A (p.Gly602=)
|
|
|
NM_000443.4(ABCB4):c.1815T>C (p.Asp605=)
|
|
|
NM_000443.4(ABCB4):c.1817G>T (p.Gly606Val)
|
rs886043723
|
|
NM_000443.4(ABCB4):c.1833A>G (p.Gln611=)
|
|
|
NM_000443.4(ABCB4):c.1834G>A (p.Gly612Arg)
|
rs886044649
|
|
NM_000443.4(ABCB4):c.1845C>T (p.Ser615=)
|
|
|
NM_000443.4(ABCB4):c.1849C>T (p.Leu617=)
|
|
|
NM_000443.4(ABCB4):c.1855AAG[1] (p.Lys620del)
|
rs774102354
|
|
NM_000443.4(ABCB4):c.1864G>T (p.Gly622Trp)
|
rs1562968700
|
|
NM_000443.4(ABCB4):c.1865G>C (p.Gly622Ala)
|
|
|
NM_000443.4(ABCB4):c.1866G>C (p.Gly622=)
|
|
|
NM_000443.4(ABCB4):c.1869G>A (p.Val623=)
|
|
|
NM_000443.4(ABCB4):c.1888A>G (p.Met630Val)
|
|
|
NM_000443.4(ABCB4):c.1893+16G>C
|
|
|
NM_000443.4(ABCB4):c.1893+18A>T
|
|
|
NM_000443.4(ABCB4):c.1893+8C>T
|
|
|
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His)
|
rs1810212221
|
|
NM_000443.4(ABCB4):c.1894-10A>G
|
|
|
NM_000443.4(ABCB4):c.1894-26_1894-25insACAA
|
rs67476712
|
|
NM_000443.4(ABCB4):c.1894-60AC[14]
|
rs10647775
|
|
NM_000443.4(ABCB4):c.1894-60AC[19]
|
rs10647775
|
|
NM_000443.4(ABCB4):c.1894-60AC[20]
|
rs10647775
|
|
NM_000443.4(ABCB4):c.1894-60AC[21]
|
rs10647775
|
|
NM_000443.4(ABCB4):c.1894-60AC[22]
|
rs10647775
|
|
NM_000443.4(ABCB4):c.1894-8T>C
|
|
|
NM_000443.4(ABCB4):c.1894-9T>C
|
|
|
NM_000443.4(ABCB4):c.1895C>T (p.Thr632Ile)
|
rs1554403476
|
|
NM_000443.4(ABCB4):c.1896A>T (p.Thr632=)
|
|
|
NM_000443.4(ABCB4):c.1943del (p.Lys648fs)
|
rs1562965250
|
|
NM_000443.4(ABCB4):c.1950C>T (p.Ala650=)
|
|
|
NM_000443.4(ABCB4):c.1953T>C (p.Thr651=)
|
|
|
NM_000443.4(ABCB4):c.1963C>G (p.Pro655Ala)
|
rs550563139
|
|
NM_000443.4(ABCB4):c.1979C>T (p.Ser660Phe)
|
rs1255030717
|
|
NM_000443.4(ABCB4):c.1987T>C (p.Phe663Leu)
|
|
|
NM_000443.4(ABCB4):c.2002C>T (p.Gln668Ter)
|
rs1562965098
|
|
NM_000443.4(ABCB4):c.2058T>C (p.Asp686=)
|
|
|
NM_000443.4(ABCB4):c.2064+210del
|
rs5885585
|
|
NM_000443.4(ABCB4):c.2064+3A>T
|
|
|
NM_000443.4(ABCB4):c.2064+8G>A
|
|
|
NM_000443.4(ABCB4):c.2065-15G>A
|
|
|
NM_000443.4(ABCB4):c.2065-16T>C
|
|
|
NM_000443.4(ABCB4):c.2065-243C>G
|
rs45609336
|
|
NM_000443.4(ABCB4):c.2065-4C>T
|
|
|
NM_000443.4(ABCB4):c.2073T>C (p.Asn691=)
|
|
|
NM_000443.4(ABCB4):c.207A>G (p.Ser69=)
|
rs914166042
|
|
NM_000443.4(ABCB4):c.2082A>G (p.Pro694=)
|
|
|
NM_000443.4(ABCB4):c.2082_2088del (p.Val695fs)
|
rs1562963055
|
|
NM_000443.4(ABCB4):c.2090_2093dup (p.Lys699fs)
|
|
|
NM_000443.4(ABCB4):c.2097G>A (p.Lys699=)
|
|
|
NM_000443.4(ABCB4):c.2100C>G (p.Val700=)
|
|
|
NM_000443.4(ABCB4):c.2103G>A (p.Leu701=)
|
|
|
NM_000443.4(ABCB4):c.2112T>C (p.Asn704=)
|
|
|
NM_000443.4(ABCB4):c.2113A>G (p.Lys705Glu)
|
rs1562963002
|
|
NM_000443.4(ABCB4):c.2118A>C (p.Thr706=)
|
|
|
NM_000443.4(ABCB4):c.2136C>T (p.Val712=)
|
|
|
NM_000443.4(ABCB4):c.2137G>T (p.Val713Leu)
|
rs373122168
|
|
NM_000443.4(ABCB4):c.213C>A (p.Leu71=)
|
|
|
NM_000443.4(ABCB4):c.213C>T (p.Leu71=)
|
|
|
NM_000443.4(ABCB4):c.2169G>A (p.Gly723=)
|
|
|
NM_000443.4(ABCB4):c.2178G>A (p.Pro726=)
|
|
|
NM_000443.4(ABCB4):c.2190C>T (p.Val730=)
|
|
|
NM_000443.4(ABCB4):c.2191A>G (p.Ile731Val)
|
rs200949614
|
|
NM_000443.4(ABCB4):c.2194T>C (p.Phe732Leu)
|
|
|
NM_000443.4(ABCB4):c.2198C>T (p.Ser733Leu)
|
rs759894200
|
|
NM_000443.4(ABCB4):c.2211+11A>T
|
|
|
NM_000443.4(ABCB4):c.2211+13A>T
|
|
|
NM_000443.4(ABCB4):c.2211+16C>A
|
|
|
NM_000443.4(ABCB4):c.2211+20A>G
|
|
|
NM_000443.4(ABCB4):c.2211+20A>T
|
|
|
NM_000443.4(ABCB4):c.2212-5T>A
|
rs1554402258
|
|
NM_000443.4(ABCB4):c.2226C>T (p.Gly742=)
|
|
|
NM_000443.4(ABCB4):c.2232T>C (p.Asp744=)
|
|
|
NM_000443.4(ABCB4):c.2242C>G (p.Gln748Glu)
|
rs1809490932
|
|
NM_000443.4(ABCB4):c.2244G>A (p.Gln748=)
|
|
|
NM_000443.4(ABCB4):c.2254A>C (p.Asn752His)
|
|
|
NM_000443.4(ABCB4):c.2260T>C (p.Phe754Leu)
|
rs1156521640
|
|
NM_000443.4(ABCB4):c.2274C>T (p.Phe758=)
|
|
|
NM_000443.4(ABCB4):c.2281C>T (p.Leu761=)
|
|
|
NM_000443.4(ABCB4):c.2294C>A (p.Ser765Tyr)
|
rs2116513004
|
|
NM_000443.4(ABCB4):c.2303C>G (p.Thr768Ser)
|
|
|
NM_000443.4(ABCB4):c.2316+12T>C
|
|
|
NM_000443.4(ABCB4):c.2316+14A>T
|
|
|
NM_000443.4(ABCB4):c.2316+1G>A
|
rs1562961442
|
|
NM_000443.4(ABCB4):c.2316+20C>T
|
|
|
NM_000443.4(ABCB4):c.2316G>A (p.Gln772=)
|
rs1562961445
|
|
NM_000443.4(ABCB4):c.2317-10del
|
|
|
NM_000443.4(ABCB4):c.2317-16C>T
|
|
|
NM_000443.4(ABCB4):c.2317-17C>T
|
|
|
NM_000443.4(ABCB4):c.2317-192G>C
|
rs45540936
|
|
NM_000443.4(ABCB4):c.2317-1G>T
|
|
|
NM_000443.4(ABCB4):c.2317-9C>G
|
|
|
NM_000443.4(ABCB4):c.2318G>T (p.Gly773Val)
|
rs1554401811
|
|
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=)
|
rs8187802
|
|
NM_000443.4(ABCB4):c.2341G>A (p.Glu781Lys)
|
|
|
NM_000443.4(ABCB4):c.2343G>A (p.Glu781=)
|
|
|
NM_000443.4(ABCB4):c.2346C>A (p.Ile782=)
|
|
|
NM_000443.4(ABCB4):c.2382A>C (p.Ala794=)
|
|
|
NM_000443.4(ABCB4):c.2382A>G (p.Ala794=)
|
|
|
NM_000443.4(ABCB4):c.2393A>C (p.Gln798Pro)
|
|
|
NM_000443.4(ABCB4):c.2394+12C>T
|
|
|
NM_000443.4(ABCB4):c.2394+185dup
|
rs375378290
|
|
NM_000443.4(ABCB4):c.2394+1G>A
|
|
|
NM_000443.4(ABCB4):c.2394+201G>T
|
rs31665
|
|
NM_000443.4(ABCB4):c.2394+201_2394+202del
|
rs567475396
|
|
NM_000443.4(ABCB4):c.2395-18G>A
|
|
|
NM_000443.4(ABCB4):c.2395-18G>T
|
|
|
NM_000443.4(ABCB4):c.2413G>A (p.Asp805Asn)
|
|
|
NM_000443.4(ABCB4):c.2430T>G (p.Thr810=)
|
|
|
NM_000443.4(ABCB4):c.2436A>G (p.Ala812=)
|
|
|
NM_000443.4(ABCB4):c.2446del (p.Arg816fs)
|
rs1554401344
|
|
NM_000443.4(ABCB4):c.2453C>A (p.Ala818Asp)
|
|
|
NM_000443.4(ABCB4):c.2473C>T (p.Gln825Ter)
|
rs1554401324
|
|
NM_000443.4(ABCB4):c.2477G>A (p.Gly826Glu)
|
rs749444322
|
|
NM_000443.4(ABCB4):c.2478+15C>A
|
|
|
NM_000443.4(ABCB4):c.2478+7A>G
|
|
|
NM_000443.4(ABCB4):c.2478+7A>T
|
rs778002144
|
|
NM_000443.4(ABCB4):c.2479-18G>T
|
|
|
NM_000443.4(ABCB4):c.2479-20T>G
|
|
|
NM_000443.4(ABCB4):c.2479-66del
|
rs5885584
|
|
NM_000443.4(ABCB4):c.2484A>G (p.Thr828=)
|
|
|
NM_000443.4(ABCB4):c.2494T>C (p.Leu832=)
|
|
|
NM_000443.4(ABCB4):c.2505T>G (p.Ile835Met)
|
|
|
NM_000443.4(ABCB4):c.2534G>T (p.Gly845Val)
|
|
|
NM_000443.4(ABCB4):c.2556C>T (p.Tyr852=)
|
|
|
NM_000443.4(ABCB4):c.2575T>C (p.Leu859=)
|
|
|
NM_000443.4(ABCB4):c.2580A>C (p.Leu860=)
|
|
|
NM_000443.4(ABCB4):c.2580A>G (p.Leu860=)
|
|
|
NM_000443.4(ABCB4):c.2587_2591delinsATCAGTGTTAAACACTGATTGAAAGTGTGTCTGATC (p.Val863_Val864delinsIleSerValLysHisTer)
|
|
|
NM_000443.4(ABCB4):c.2609C>G (p.Ser870Ter)
|
|
|
NM_000443.4(ABCB4):c.2618T>C (p.Val873Ala)
|
|
|
NM_000443.4(ABCB4):c.2625G>A (p.Met875Ile)
|
rs886043727
|
|
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.2678G>A (p.Gly893Glu)
|
|
|
NM_000443.4(ABCB4):c.2679A>G (p.Gly893=)
|
|
|
NM_000443.4(ABCB4):c.2682+14G>A
|
|
|
NM_000443.4(ABCB4):c.2682+20A>T
|
|
|
NM_000443.4(ABCB4):c.2683-14A>G
|
|
|
NM_000443.4(ABCB4):c.2683-17T>C
|
|
|
NM_000443.4(ABCB4):c.2683-19G>A
|
|
|
NM_000443.4(ABCB4):c.2685T>C (p.Ile895=)
|
|
|
NM_000443.4(ABCB4):c.2687C>A (p.Ala896Glu)
|
rs1562955105
|
|
NM_000443.4(ABCB4):c.2694G>A (p.Glu898=)
|
|
|
NM_000443.4(ABCB4):c.2699T>C (p.Ile900Thr)
|
rs1562955080
|
|
NM_000443.4(ABCB4):c.2703A>G (p.Glu901=)
|
rs755881772
|
|
NM_000443.4(ABCB4):c.2708_2710del (p.Ile903del)
|
rs886044705
|
|
NM_000443.4(ABCB4):c.2712G>A (p.Arg904=)
|
|
|
NM_000443.4(ABCB4):c.2718_2720del (p.Val907del)
|
rs1562955015
|
|
NM_000443.4(ABCB4):c.2751A>C (p.Ser917=)
|
|
|
NM_000443.4(ABCB4):c.2760T>C (p.Val920=)
|
|
|
NM_000443.4(ABCB4):c.2766A>G (p.Lys922=)
|
|
|
NM_000443.4(ABCB4):c.276C>T (p.Phe92=)
|
|
|
NM_000443.4(ABCB4):c.2783+11A>G
|
|
|
NM_000443.4(ABCB4):c.2783+13A>G
|
|
|
NM_000443.4(ABCB4):c.2783+1G>T
|
|
|
NM_000443.4(ABCB4):c.2783+9C>A
|
|
|
NM_000443.4(ABCB4):c.2784-16C>T
|
|
|
NM_000443.4(ABCB4):c.2784-20T>C
|
|
|
NM_000443.4(ABCB4):c.2787T>C (p.Asn929=)
|
|
|
NM_000443.4(ABCB4):c.279C>T (p.Ser93=)
|
|
|
NM_000443.4(ABCB4):c.2805C>T (p.His935=)
|
|
|
NM_000443.4(ABCB4):c.2817T>G (p.Ile939Met)
|
|
|
NM_000443.4(ABCB4):c.2823T>C (p.Phe941=)
|
|
|
NM_000443.4(ABCB4):c.2828_2829delinsAT (p.Ile943Asn)
|
rs1562953769
|
|
NM_000443.4(ABCB4):c.2853C>G (p.Ser951=)
|
|
|
NM_000443.4(ABCB4):c.2858C>A (p.Ala953Asp)
|
rs2116406254
|
|
NM_000443.4(ABCB4):c.2859C>T (p.Ala953=)
|
|
|
NM_000443.4(ABCB4):c.286+11C>A
|
|
|
NM_000443.4(ABCB4):c.286+12T>C
|
|
|
NM_000443.4(ABCB4):c.286+130T>C
|
rs2302386
|
|
NM_000443.4(ABCB4):c.2860G>A (p.Gly954Ser)
|
|
|
NM_000443.4(ABCB4):c.2878G>A (p.Ala960Thr)
|
rs2116405917
|
|
NM_000443.4(ABCB4):c.2887A>G (p.Ile963Val)
|
|
|
NM_000443.4(ABCB4):c.2906G>A (p.Arg969His)
|
rs752916287
|
|
NM_000443.4(ABCB4):c.291C>T (p.Asn97=)
|
|
|
NM_000443.4(ABCB4):c.2924+16A>C
|
|
|
NM_000443.4(ABCB4):c.2924+18T>G
|
|
|
NM_000443.4(ABCB4):c.2924+8G>A
|
|
|
NM_000443.4(ABCB4):c.2925-11C>T
|
|
|
NM_000443.4(ABCB4):c.2925-17C>A
|
|
|
NM_000443.4(ABCB4):c.2925-4C>A
|
|
|
NM_000443.4(ABCB4):c.2925-4C>G
|
|
|
NM_000443.4(ABCB4):c.2925-8C>T
|
|
|
NM_000443.4(ABCB4):c.2948G>A (p.Gly983Asp)
|
|
|
NM_000443.4(ABCB4):c.2952A>C (p.Ala984=)
|
|
|
NM_000443.4(ABCB4):c.2959C>T (p.Leu987=)
|
|
|
NM_000443.4(ABCB4):c.2961A>G (p.Leu987=)
|
|
|
NM_000443.4(ABCB4):c.2967T>C (p.His989=)
|
|
|
NM_000443.4(ABCB4):c.297C>T (p.Ser99=)
|
|
|
NM_000443.4(ABCB4):c.2985A>C (p.Pro995=)
|
|
|
NM_000443.4(ABCB4):c.2994T>C (p.Ala998=)
|
|
|
NM_000443.4(ABCB4):c.3019T>C (p.Leu1007=)
|
|
|
NM_000443.4(ABCB4):c.3024C>T (p.Phe1008=)
|
|
|
NM_000443.4(ABCB4):c.303G>A (p.Ser101=)
|
rs886044650
|
|
NM_000443.4(ABCB4):c.3063T>C (p.Ser1021=)
|
|
|
NM_000443.4(ABCB4):c.3081+14T>C
|
|
|
NM_000443.4(ABCB4):c.3081+1G>C
|
rs750829010
|
|
NM_000443.4(ABCB4):c.3081+7T>C
|
|
|
NM_000443.4(ABCB4):c.3082-10A>G
|
|
|
NM_000443.4(ABCB4):c.3082-179C>G
|
rs45526441
|
|
NM_000443.4(ABCB4):c.3082-5T>C
|
|
|
NM_000443.4(ABCB4):c.3090T>C (p.Phe1030=)
|
|
|
NM_000443.4(ABCB4):c.309A>G (p.Leu103=)
|
|
|
NM_000443.4(ABCB4):c.3117C>T (p.Val1039=)
|
|
|
NM_000443.4(ABCB4):c.3135C>A (p.Thr1045=)
|
|
|
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter)
|
rs759202962
|
|
NM_000443.4(ABCB4):c.3141A>T (p.Ala1047=)
|
|
|
NM_000443.4(ABCB4):c.3148C>T (p.Pro1050Ser)
|
|
|
NM_000443.4(ABCB4):c.3149C>T (p.Pro1050Leu)
|
rs1554398481
|
|
NM_000443.4(ABCB4):c.3162G>A (p.Gly1054=)
|
|
|
NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)
|
|
|
NM_000443.4(ABCB4):c.3174G>A (p.Glu1058=)
|
|
|
NM_000443.4(ABCB4):c.3186C>T (p.Gly1062=)
|
|
|
NM_000443.4(ABCB4):c.3193C>T (p.Leu1065=)
|
|
|
NM_000443.4(ABCB4):c.3207C>T (p.Gly1069=)
|
|
|
NM_000443.4(ABCB4):c.3210C>T (p.Ser1070=)
|
|
|
NM_000443.4(ABCB4):c.3213T>C (p.Ser1071=)
|
|
|
NM_000443.4(ABCB4):c.3215G>T (p.Gly1072Val)
|
|
|
NM_000443.4(ABCB4):c.3227G>A (p.Ser1076Asn)
|
rs1554398434
|
|
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=)
|
rs1562950567
|
|
NM_000443.4(ABCB4):c.3250C>T (p.Arg1084Trp)
|
rs1262922848
|
|
NM_000443.4(ABCB4):c.3257A>C (p.Tyr1086Ser)
|
rs745972631
|
|
NM_000443.4(ABCB4):c.325C>T (p.Leu109=)
|
|
|
NM_000443.4(ABCB4):c.3268G>C (p.Ala1090Pro)
|
rs1562950481
|
|
NM_000443.4(ABCB4):c.3270G>A (p.Ala1090=)
|
|
|
NM_000443.4(ABCB4):c.3273G>A (p.Gly1091=)
|
|
|
NM_000443.4(ABCB4):c.3276A>G (p.Thr1092=)
|
|
|
NM_000443.4(ABCB4):c.3279+13C>A
|
|
|
NM_000443.4(ABCB4):c.3279+16T>C
|
|
|
NM_000443.4(ABCB4):c.3279+5G>A
|
rs1562950443
|
|
NM_000443.4(ABCB4):c.3280-1G>C
|
rs1562949296
|
|
NM_000443.4(ABCB4):c.3309C>A (p.Leu1103=)
|
|
|
NM_000443.4(ABCB4):c.3315C>T (p.Val1105=)
|
|
|
NM_000443.4(ABCB4):c.3334C>G (p.Leu1112Val)
|
rs886044706
|
|
NM_000443.4(ABCB4):c.3342C>T (p.Ile1114=)
|
|
|
NM_000443.4(ABCB4):c.3349C>T (p.Gln1117Ter)
|
|
|
NM_000443.4(ABCB4):c.3350A>G (p.Gln1117Arg)
|
|
|
NM_000443.4(ABCB4):c.3367G>A (p.Asp1123Asn)
|
rs866301089
|
|
NM_000443.4(ABCB4):c.3370dup (p.Cys1124fs)
|
|
|
NM_000443.4(ABCB4):c.3371G>A (p.Cys1124Tyr)
|
rs886044199
|
|
NM_000443.4(ABCB4):c.3375C>T (p.Ser1125=)
|
|
|
NM_000443.4(ABCB4):c.3381C>G (p.Ala1127=)
|
|
|
NM_000443.4(ABCB4):c.3387T>C (p.Asn1129=)
|
|
|
NM_000443.4(ABCB4):c.3399A>G (p.Gly1133=)
|
|
|
NM_000443.4(ABCB4):c.3408C>T (p.Ser1136=)
|
|
|
NM_000443.4(ABCB4):c.342T>C (p.Thr114=)
|
|
|
NM_000443.4(ABCB4):c.3434T>C (p.Val1145Ala)
|
rs1562948881
|
|
NM_000443.4(ABCB4):c.3436A>C (p.Ser1146Arg)
|
rs886044011
|
|
NM_000443.4(ABCB4):c.344+11T>C
|
|
|
NM_000443.4(ABCB4):c.344+274A>C
|
rs45616238
|
|
NM_000443.4(ABCB4):c.344+9T>C
|
|
|
NM_000443.4(ABCB4):c.3447A>G (p.Lys1149=)
|
|
|
NM_000443.4(ABCB4):c.345-12C>T
|
|
|
NM_000443.4(ABCB4):c.345-2A>G
|
rs1562989885
|
|
NM_000443.4(ABCB4):c.345-4del
|
|
|
NM_000443.4(ABCB4):c.345-4dup
|
|
|
NM_000443.4(ABCB4):c.345-5T>G
|
|
|
NM_000443.4(ABCB4):c.345-65GAAAA[3]
|
rs199500302
|
|
NM_000443.4(ABCB4):c.345-6T>C
|
|
|
NM_000443.4(ABCB4):c.3469_3471del (p.Ile1157del)
|
rs1554397785
|
|
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=)
|
rs752578370
|
|
NM_000443.4(ABCB4):c.3478T>C (p.Leu1160=)
|
|
|
NM_000443.4(ABCB4):c.3486+10dup
|
rs8187809
|
|
NM_000443.4(ABCB4):c.3486+13G>C
|
|
|
NM_000443.4(ABCB4):c.3486+9_3486+10del
|
|
|
NM_000443.4(ABCB4):c.3488A>T (p.Lys1163Ile)
|
rs1562946659
|
|
NM_000443.4(ABCB4):c.3492T>C (p.Tyr1164=)
|
|
|
NM_000443.4(ABCB4):c.3492T>G (p.Tyr1164Ter)
|
|
|
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=)
|
rs1807938184
|
|
NM_000443.4(ABCB4):c.3520C>T (p.Gln1174Ter)
|
|
|
NM_000443.4(ABCB4):c.3533G>T (p.Gly1178Val)
|
rs886043650
|
|
NM_000443.4(ABCB4):c.3541C>T (p.Gln1181Ter)
|
|
|
NM_000443.4(ABCB4):c.3544A>T (p.Arg1182Trp)
|
rs913621236
|
|
NM_000443.4(ABCB4):c.354T>C (p.Tyr118=)
|
|
|
NM_000443.4(ABCB4):c.3559C>G (p.Arg1187Gly)
|
|
|
NM_000443.4(ABCB4):c.3577C>A (p.Pro1193Thr)
|
rs1562946432
|
|
NM_000443.4(ABCB4):c.3582A>G (p.Gln1194=)
|
|
|
NM_000443.4(ABCB4):c.3585C>T (p.Ile1195=)
|
|
|
NM_000443.4(ABCB4):c.3592T>C (p.Leu1198=)
|
|
|
NM_000443.4(ABCB4):c.3597T>A (p.Asp1199Glu)
|
|
|
NM_000443.4(ABCB4):c.3608C>G (p.Ser1203Ter)
|
rs748842753
|
|
NM_000443.4(ABCB4):c.3621T>C (p.Thr1207=)
|
|
|
NM_000443.4(ABCB4):c.3633+10G>A
|
|
|
NM_000443.4(ABCB4):c.3633+16C>A
|
|
|
NM_000443.4(ABCB4):c.3633+19C>T
|
|
|
NM_000443.4(ABCB4):c.3633+1G>T
|
rs1245472904
|
|
NM_000443.4(ABCB4):c.3642A>G (p.Gln1214=)
|
|
|
NM_000443.4(ABCB4):c.3651G>A (p.Leu1217=)
|
|
|
NM_000443.4(ABCB4):c.367T>C (p.Leu123=)
|
|
|
NM_000443.4(ABCB4):c.3680T>G (p.Ile1227Ser)
|
|
|
NM_000443.4(ABCB4):c.3692A>G (p.His1231Arg)
|
rs2116295930
|
|
NM_000443.4(ABCB4):c.3694C>T (p.Arg1232Cys)
|
|
|
NM_000443.4(ABCB4):c.3705C>T (p.Thr1235=)
|
|
|
NM_000443.4(ABCB4):c.370G>T (p.Gly124Cys)
|
rs1562989807
|
|
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)
|
rs1562945221
|
|
NM_000443.4(ABCB4):c.3732G>T (p.Val1244=)
|
|
|
NM_000443.4(ABCB4):c.3744G>A (p.Gly1248=)
|
|
|
NM_000443.4(ABCB4):c.3765G>A (p.Thr1255=)
|
|
|
NM_000443.4(ABCB4):c.376G>A (p.Gly126Arg)
|
|
|
NM_000443.4(ABCB4):c.377G>A (p.Gly126Glu)
|
rs1021988376
|
|
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=)
|
rs1029350022
|
|
NM_000443.4(ABCB4):c.396T>C (p.Tyr132=)
|
|
|
NM_000443.4(ABCB4):c.398T>C (p.Ile133Thr)
|
rs200544332
|
|
NM_000443.4(ABCB4):c.400C>A (p.Gln134Lys)
|
|
|
NM_000443.4(ABCB4):c.411T>C (p.Phe137=)
|
|
|
NM_000443.4(ABCB4):c.429T>C (p.Gly143=)
|
|
|
NM_000443.4(ABCB4):c.433C>T (p.Gln145Ter)
|
|
|
NM_000443.4(ABCB4):c.453G>A (p.Gln151=)
|
|
|
NM_000443.4(ABCB4):c.468T>C (p.Ala156=)
|
|
|
NM_000443.4(ABCB4):c.513T>A (p.Thr171=)
|
|
|
NM_000443.4(ABCB4):c.536+17T>C
|
|
|
NM_000443.4(ABCB4):c.536+18G>A
|
|
|
NM_000443.4(ABCB4):c.536+19T>C
|
|
|
NM_000443.4(ABCB4):c.536+9A>G
|
rs1562989394
|
|
NM_000443.4(ABCB4):c.537-16G>A
|
|
|
NM_000443.4(ABCB4):c.537-7T>C
|
|
|
NM_000443.4(ABCB4):c.552C>T (p.Ile184=)
|
|
|
NM_000443.4(ABCB4):c.564T>C (p.Ile188=)
|
|
|
NM_000443.4(ABCB4):c.577G>A (p.Gly193Arg)
|
rs1554409845
|
|
NM_000443.4(ABCB4):c.603G>A (p.Thr201=)
|
|
|
NM_000443.4(ABCB4):c.609dup (p.Ala204fs)
|
rs1562988165
|
|
NM_000443.4(ABCB4):c.620T>C (p.Ile207Thr)
|
rs2116802789
|
|
NM_000443.4(ABCB4):c.639A>T (p.Gly213=)
|
|
|
NM_000443.4(ABCB4):c.651C>G (p.Thr217=)
|
|
|
NM_000443.4(ABCB4):c.66A>G (p.Glu22=)
|
|
|
NM_000443.4(ABCB4):c.675T>C (p.Pro225=)
|
|
|
NM_000443.4(ABCB4):c.675T>G (p.Pro225=)
|
|
|
NM_000443.4(ABCB4):c.690T>G (p.Ser230=)
|
|
|
NM_000443.4(ABCB4):c.69G>A (p.Leu23=)
|
|
|
NM_000443.4(ABCB4):c.708+11G>A
|
|
|
NM_000443.4(ABCB4):c.708+16G>T
|
|
|
NM_000443.4(ABCB4):c.708+7G>A
|
|
|
NM_000443.4(ABCB4):c.709-13C>A
|
|
|
NM_000443.4(ABCB4):c.709-13C>G
|
|
|
NM_000443.4(ABCB4):c.709-17G>C
|
|
|
NM_000443.4(ABCB4):c.709-19C>T
|
|
|
NM_000443.4(ABCB4):c.709-20A>G
|
|
|
NM_000443.4(ABCB4):c.709-5T>A
|
rs1250758488
|
|
NM_000443.4(ABCB4):c.709-7T>C
|
|
|
NM_000443.4(ABCB4):c.709A>T (p.Ile237Leu)
|
rs201611454
|
|
NM_000443.4(ABCB4):c.718G>A (p.Ala240Thr)
|
|
|
NM_000443.4(ABCB4):c.741T>C (p.Ala247=)
|
|
|
NM_000443.4(ABCB4):c.747T>C (p.Tyr249=)
|
|
|
NM_000443.4(ABCB4):c.749del (p.Ala250fs)
|
|
|
NM_000443.4(ABCB4):c.759C>T (p.Gly253=)
|
|
|
NM_000443.4(ABCB4):c.762C>A (p.Ala254=)
|
|
|
NM_000443.4(ABCB4):c.762C>T (p.Ala254=)
|
|
|
NM_000443.4(ABCB4):c.771A>G (p.Glu257=)
|
|
|
NM_000443.4(ABCB4):c.777T>A (p.Ala259=)
|
|
|
NM_000443.4(ABCB4):c.779T>C (p.Leu260Pro)
|
rs1554409388
|
|
NM_000443.4(ABCB4):c.783G>A (p.Gly261=)
|
|
|
NM_000443.4(ABCB4):c.792G>A (p.Arg264=)
|
|
|
NM_000443.4(ABCB4):c.795T>C (p.Thr265=)
|
|
|
NM_000443.4(ABCB4):c.79A>G (p.Ser27Gly)
|
rs1563012148
|
|
NM_000443.4(ABCB4):c.80+13C>A
|
|
|
NM_000443.4(ABCB4):c.80+15G>A
|
|
|
NM_000443.4(ABCB4):c.80+16C>T
|
|
|
NM_000443.4(ABCB4):c.80+1G>A
|
|
|
NM_000443.4(ABCB4):c.80+20T>A
|
|
|
NM_000443.4(ABCB4):c.80+2T>A
|
|
|
NM_000443.4(ABCB4):c.80+7C>A
|
|
|
NM_000443.4(ABCB4):c.80+7C>T
|
|
|
NM_000443.4(ABCB4):c.80+8C>T
|
|
|
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)
|
rs551234479
|
|
NM_000443.4(ABCB4):c.808G>C (p.Gly270Arg)
|
rs551234479
|
|
NM_000443.4(ABCB4):c.809G>A (p.Gly270Glu)
|
|
|
NM_000443.4(ABCB4):c.81-13C>G
|
|
|
NM_000443.4(ABCB4):c.81-16A>C
|
|
|
NM_000443.4(ABCB4):c.81-260G>A
|
rs4148810
|
|
NM_000443.4(ABCB4):c.81-5del
|
|
|
NM_000443.4(ABCB4):c.81-5dup
|
|
|
NM_000443.4(ABCB4):c.810G>A (p.Gly270=)
|
|
|
NM_000443.4(ABCB4):c.816G>A (p.Gln272=)
|
|
|
NM_000443.4(ABCB4):c.833+11T>A
|
|
|
NM_000443.4(ABCB4):c.833+15T>G
|
|
|
NM_000443.4(ABCB4):c.833+1G>A
|
|
|
NM_000443.4(ABCB4):c.833+7A>G
|
|
|
NM_000443.4(ABCB4):c.833G>A (p.Arg278Lys)
|
rs1554409350
|
|
NM_000443.4(ABCB4):c.834-2A>G
|
rs1562983531
|
|
NM_000443.4(ABCB4):c.834-66G>T
|
rs1014283
|
|
NM_000443.4(ABCB4):c.834-8T>A
|
|
|
NM_000443.4(ABCB4):c.838C>T (p.Gln280Ter)
|
rs755012183
|
|
NM_000443.4(ABCB4):c.849A>G (p.Leu283=)
|
|
|
NM_000443.4(ABCB4):c.875A>G (p.Lys292Arg)
|
|
|
NM_000443.4(ABCB4):c.879A>G (p.Lys293=)
|
|
|
NM_000443.4(ABCB4):c.879del (p.Ala294fs)
|
rs1326932143
|
|
NM_000443.4(ABCB4):c.899C>A (p.Ser300Tyr)
|
|
|
NM_000443.4(ABCB4):c.906T>C (p.Gly302=)
|
|
|
NM_000443.4(ABCB4):c.91del (p.Arg31fs)
|
|
|
NM_000443.4(ABCB4):c.924A>G (p.Ile308Met)
|
|
|
NM_000443.4(ABCB4):c.927T>G (p.Tyr309Ter)
|
rs199504845
|
|
NM_000443.4(ABCB4):c.930A>G (p.Ala310=)
|
|
|
NM_000443.4(ABCB4):c.932C>A (p.Ser311Ter)
|
rs1562983272
|
|
NM_000443.4(ABCB4):c.945C>G (p.Ala315=)
|
|
|
NM_000443.4(ABCB4):c.94A>T (p.Lys32Ter)
|
rs1563009379
|
|
NM_000443.4(ABCB4):c.957A>T (p.Gly319=)
|
|
|
NM_000443.4(ABCB4):c.966A>C (p.Leu322=)
|
|
|
NM_000443.4(ABCB4):c.975A>G (p.Ser325=)
|
|
|
NM_000443.4(ABCB4):c.979G>A (p.Glu327Lys)
|
rs1562983147
|
|
NM_000443.4(ABCB4):c.987T>C (p.Thr329=)
|
|
|