NM_003742.4(ABCB11):c.2344-17T>C
|
rs853789
|
0.75457
|
NM_003742.4(ABCB11):c.909-15A>G
|
rs2287618
|
0.72659
|
NM_003742.4(ABCB11):c.*236A>G
|
rs473351
|
0.61693
|
NM_003742.4(ABCB11):c.1434+70C>T
|
rs2287623
|
0.57088
|
NM_003742.4(ABCB11):c.1638+32T>C
|
rs2241340
|
0.57009
|
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala)
|
rs2287622
|
0.57004
|
NM_003742.4(ABCB11):c.1638+80C>T
|
rs2241341
|
0.56946
|
NM_003742.4(ABCB11):c.*368G>A
|
rs495714
|
0.47735
|
NM_003742.4(ABCB11):c.*420A>G
|
rs496550
|
0.47337
|
NM_003742.4(ABCB11):c.2344-157T>G
|
rs860510
|
0.47138
|
NM_003742.4(ABCB11):c.3084A>G (p.Ala1028=)
|
rs497692
|
0.46166
|
NM_003742.4(ABCB11):c.2179-17C>A
|
rs853772
|
0.45482
|
NM_003742.4(ABCB11):c.99-18T>C
|
rs4148776
|
0.13692
|
NM_003742.4(ABCB11):c.908+108A>G
|
rs4148780
|
0.13132
|
NM_003742.4(ABCB11):c.1309-93G>A
|
rs55669065
|
0.07356
|
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val)
|
rs11568364
|
0.06201
|
NM_003742.4(ABCB11):c.402C>T (p.Ile134=)
|
rs11568377
|
0.05330
|
NM_003742.4(ABCB11):c.270T>C (p.Phe90=)
|
rs4148777
|
0.05096
|
NM_003742.4(ABCB11):c.3258A>G (p.Thr1086=)
|
rs11568359
|
0.02682
|
NM_003742.4(ABCB11):c.2412A>G (p.Ala804=)
|
rs11568373
|
0.02633
|
NM_003742.4(ABCB11):c.389+8G>A
|
rs11568363
|
0.02444
|
NM_003742.4(ABCB11):c.1185G>A (p.Glu395=)
|
rs57509552
|
0.01590
|
NM_003742.4(ABCB11):c.807T>C (p.Tyr269=)
|
rs2287616
|
0.01137
|
NM_003742.4(ABCB11):c.108T>C (p.Asp36=)
|
rs3815675
|
0.01118
|
NM_003742.4(ABCB11):c.77-17del
|
rs11568375
|
0.01069
|
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys)
|
rs1521808
|
0.00943
|
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=)
|
rs113099601
|
0.00643
|
NM_003742.4(ABCB11):c.2093G>A (p.Arg698His)
|
rs138642043
|
0.00495
|
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)
|
rs191649793
|
0.00401
|
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=)
|
rs145720664
|
0.00273
|
NM_003742.4(ABCB11):c.*237T>C
|
rs548624200
|
0.00214
|
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile)
|
rs183406496
|
0.00197
|
NM_003742.4(ABCB11):c.156G>A (p.Arg52=)
|
rs140587295
|
0.00145
|
NM_003742.4(ABCB11):c.1791G>T (p.Val597=)
|
rs11568371
|
0.00145
|
NM_003742.4(ABCB11):c.*440G>A
|
rs79130028
|
0.00112
|
NM_003742.4(ABCB11):c.1636C>A (p.Gln546Lys)
|
rs111482608
|
0.00107
|
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=)
|
rs11568360
|
0.00098
|
NM_003742.4(ABCB11):c.408C>T (p.Ser136=)
|
rs183214630
|
0.00092
|
NM_003742.4(ABCB11):c.174C>T (p.Asp58=)
|
rs11568362
|
0.00085
|
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro)
|
rs150572999
|
0.00079
|
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr)
|
rs183621659
|
0.00071
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu)
|
rs11568361
|
0.00052
|
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg)
|
rs199940188
|
0.00050
|
NM_003742.4(ABCB11):c.3524A>C (p.Lys1175Thr)
|
rs200709879
|
0.00046
|
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln)
|
rs141862495
|
0.00040
|
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=)
|
rs201087979
|
0.00040
|
NM_003742.4(ABCB11):c.1605C>T (p.Ala535=)
|
rs144848376
|
0.00039
|
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=)
|
rs201881755
|
0.00036
|
NM_003742.4(ABCB11):c.930C>T (p.Phe310=)
|
rs372382608
|
0.00034
|
NM_003742.4(ABCB11):c.61G>A (p.Glu21Lys)
|
rs377170187
|
0.00033
|
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=)
|
rs183390670
|
0.00032
|
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=)
|
rs140138979
|
0.00032
|
NM_003742.4(ABCB11):c.2594C>T (p.Ala865Val)
|
rs118109635
|
0.00029
|
NM_003742.4(ABCB11):c.1434+14A>G
|
rs201816834
|
0.00028
|
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala)
|
rs200739891
|
0.00025
|
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys)
|
rs200148505
|
0.00024
|
NM_003742.4(ABCB11):c.3846C>T (p.Asn1282=)
|
rs369538863
|
0.00024
|
NM_003742.4(ABCB11):c.506G>A (p.Arg169His)
|
rs200870815
|
0.00023
|
NM_003742.4(ABCB11):c.1937G>A (p.Arg646Lys)
|
rs756725213
|
0.00015
|
NM_003742.4(ABCB11):c.3170G>A (p.Arg1057Gln)
|
rs200174512
|
0.00015
|
NM_003742.4(ABCB11):c.1062T>C (p.Tyr354=)
|
rs376258647
|
0.00014
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
NM_003742.4(ABCB11):c.1723C>T (p.Arg575Ter)
|
rs72549401
|
0.00013
|
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val)
|
rs200912109
|
0.00012
|
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys)
|
rs539087982
|
0.00012
|
NM_003742.4(ABCB11):c.1638+6C>G
|
rs886055067
|
0.00011
|
NM_003742.4(ABCB11):c.235G>A (p.Val79Met)
|
rs371965391
|
0.00011
|
NM_003742.4(ABCB11):c.3411+9C>T
|
rs201287126
|
0.00011
|
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly)
|
rs11568372
|
0.00011
|
NM_003742.4(ABCB11):c.1530C>A (p.Thr510=)
|
rs374701109
|
0.00010
|
NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=)
|
rs199974713
|
0.00010
|
NM_003742.4(ABCB11):c.*316G>A
|
rs560085646
|
0.00009
|
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln)
|
rs11568370
|
0.00009
|
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val)
|
rs372757355
|
0.00009
|
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=)
|
rs1014304470
|
0.00008
|
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val)
|
rs372886308
|
0.00007
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys)
|
rs201800225
|
0.00006
|
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
|
rs199841445
|
0.00006
|
NM_003742.4(ABCB11):c.282C>T (p.Asp94=)
|
rs775605577
|
0.00005
|
NM_003742.4(ABCB11):c.119G>A (p.Gly40Asp)
|
rs951486880
|
0.00004
|
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp)
|
rs553076953
|
0.00004
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_003742.4(ABCB11):c.810G>A (p.Glu270=)
|
rs369671177
|
0.00004
|
NM_003742.4(ABCB11):c.*252T>A
|
rs886055060
|
0.00003
|
NM_003742.4(ABCB11):c.-64A>G
|
rs1036640978
|
0.00003
|
NM_003742.4(ABCB11):c.1113A>G (p.Leu371=)
|
rs369132677
|
0.00003
|
NM_003742.4(ABCB11):c.1198-7A>C
|
rs752532486
|
0.00003
|
NM_003742.4(ABCB11):c.1244G>A (p.Arg415Gln)
|
rs371656014
|
0.00003
|
NM_003742.4(ABCB11):c.1639-4C>T
|
rs780324076
|
0.00003
|
NM_003742.4(ABCB11):c.1639-6A>G
|
rs751634104
|
0.00003
|
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)
|
rs886043807
|
0.00003
|
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=)
|
rs776223452
|
0.00003
|
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)
|
rs763782349
|
0.00003
|
NM_003742.4(ABCB11):c.3411+10G>A
|
rs188996270
|
0.00003
|
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser)
|
rs758339239
|
0.00003
|
NM_003742.4(ABCB11):c.-78C>T
|
rs746730049
|
0.00002
|
NM_003742.4(ABCB11):c.1435-11A>G
|
rs762147612
|
0.00002
|
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)
|
rs763526610
|
0.00002
|
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)
|
rs72549396
|
0.00002
|
NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)
|
rs199649780
|
0.00002
|
NM_003742.4(ABCB11):c.3676C>T (p.Arg1226Cys)
|
rs772241929
|
0.00002
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)
|
rs866839234
|
0.00002
|
NM_003742.4(ABCB11):c.76+1G>A
|
rs1413569310
|
0.00002
|
NM_003742.4(ABCB11):c.*533C>A
|
rs886055058
|
0.00001
|
NM_003742.4(ABCB11):c.*640G>C
|
rs1351596156
|
0.00001
|
NM_003742.4(ABCB11):c.*670G>C
|
rs1469256614
|
0.00001
|
NM_003742.4(ABCB11):c.-97T>C
|
rs568098536
|
0.00001
|
NM_003742.4(ABCB11):c.1030G>A (p.Gly344Ser)
|
rs750904445
|
0.00001
|
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)
|
rs764125510
|
0.00001
|
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr)
|
rs371091982
|
0.00001
|
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter)
|
rs774824767
|
0.00001
|
NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)
|
rs369860506
|
0.00001
|
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)
|
rs72549402
|
0.00001
|
NM_003742.4(ABCB11):c.1470C>T (p.Asn490=)
|
rs747864916
|
0.00001
|
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)
|
rs752043324
|
0.00001
|
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=)
|
rs765678675
|
0.00001
|
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
|
rs760750012
|
0.00001
|
NM_003742.4(ABCB11):c.1553A>G (p.Tyr518Cys)
|
rs770750597
|
0.00001
|
NM_003742.4(ABCB11):c.1647C>T (p.Asp549=)
|
rs1244153418
|
0.00001
|
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)
|
rs917981474
|
0.00001
|
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=)
|
rs750100537
|
0.00001
|
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=)
|
rs886055065
|
0.00001
|
NM_003742.4(ABCB11):c.2075+7T>A
|
rs768511849
|
0.00001
|
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=)
|
rs762791891
|
0.00001
|
NM_003742.4(ABCB11):c.2178+1G>A
|
rs1459273753
|
0.00001
|
NM_003742.4(ABCB11):c.2202A>C (p.Glu734Asp)
|
rs369865521
|
0.00001
|
NM_003742.4(ABCB11):c.2228G>C (p.Arg743Thr)
|
rs372228971
|
0.00001
|
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)
|
rs1060499579
|
0.00001
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
NM_003742.4(ABCB11):c.3057-12G>A
|
rs748204442
|
0.00001
|
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys)
|
rs72549398
|
0.00001
|
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)
|
rs72549397
|
0.00001
|
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)
|
rs756220860
|
0.00001
|
NM_003742.4(ABCB11):c.3454C>T (p.Leu1152Phe)
|
rs773929580
|
0.00001
|
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)
|
rs748862206
|
0.00001
|
NM_003742.4(ABCB11):c.3591G>C (p.Leu1197=)
|
rs1454008881
|
0.00001
|
NM_003742.4(ABCB11):c.3633C>T (p.Asn1211=)
|
rs772714766
|
0.00001
|
NM_003742.4(ABCB11):c.3647G>C (p.Gly1216Ala)
|
rs769192036
|
0.00001
|
NM_003742.4(ABCB11):c.3687T>G (p.Ile1229Met)
|
rs780956310
|
0.00001
|
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln)
|
rs758069019
|
0.00001
|
NM_003742.4(ABCB11):c.3766-10C>T
|
rs369104228
|
0.00001
|
NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter)
|
rs769983873
|
0.00001
|
NM_003742.4(ABCB11):c.3962G>A (p.Ser1321Asn)
|
rs201693189
|
0.00001
|
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)
|
rs752992432
|
0.00001
|
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)
|
rs139641883
|
0.00001
|
NM_003742.4(ABCB11):c.611+1G>A
|
rs769134865
|
0.00001
|
NM_003742.4(ABCB11):c.681C>A (p.Thr227=)
|
rs1401834885
|
0.00001
|
NM_003742.4(ABCB11):c.800C>T (p.Thr267Met)
|
rs886055069
|
0.00001
|
NM_003742.4(ABCB11):c.917A>G (p.Lys306Arg)
|
rs1694321895
|
0.00001
|
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
|
|
|
NM_003742.4(ABCB11):c.*26A>G
|
rs762157709
|
|
NM_003742.4(ABCB11):c.*281T>G
|
rs3732038
|
|
NM_003742.4(ABCB11):c.*406A>G
|
rs1213193045
|
|
NM_003742.4(ABCB11):c.*509C>T
|
rs886055059
|
|
NM_003742.4(ABCB11):c.-57C>T
|
rs1695860361
|
|
NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
|
|
|
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)
|
|
|
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=)
|
rs1694080804
|
|
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter)
|
rs1574462504
|
|
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser)
|
rs572222881
|
|
NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs)
|
rs2105984736
|
|
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del)
|
rs1553468235
|
|
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
|
|
|
NM_003742.4(ABCB11):c.1197+13C>T
|
rs781492309
|
|
NM_003742.4(ABCB11):c.1197+2T>C
|
rs886055068
|
|
NM_003742.4(ABCB11):c.1198-1G>C
|
|
|
NM_003742.4(ABCB11):c.1198-2A>C
|
|
|
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)
|
rs913644236
|
|
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr)
|
rs121908935
|
|
NM_003742.4(ABCB11):c.1361T>G (p.Val454Gly)
|
rs1558898919
|
|
NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)
|
|
|
NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter)
|
rs2105967973
|
|
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)
|
rs1463057954
|
|
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter)
|
rs1558898789
|
|
NM_003742.4(ABCB11):c.1434+5G>A
|
|
|
NM_003742.4(ABCB11):c.1435-13_1435-8del
|
rs748716950
|
|
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro)
|
rs188824058
|
|
NM_003742.4(ABCB11):c.1484G>T (p.Arg495Ile)
|
|
|
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
|
|
|
NM_003742.4(ABCB11):c.150+3A>C
|
rs387906354
|
|
NM_003742.4(ABCB11):c.151-9T>G
|
|
|
NM_003742.4(ABCB11):c.1523T>C (p.Phe508Ser)
|
|
|
NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu)
|
rs979738325
|
|
NM_003742.4(ABCB11):c.1622T>C (p.Ile541Thr)
|
rs753994013
|
|
NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)
|
|
|
NM_003742.4(ABCB11):c.1679G>A (p.Ser560Asn)
|
|
|
NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)
|
|
|
NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)
|
|
|
NM_003742.4(ABCB11):c.1709C>T (p.Ala570Val)
|
|
|
NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)
|
|
|
NM_003742.4(ABCB11):c.1789dup (p.Val597fs)
|
|
|
NM_003742.4(ABCB11):c.1809G>A (p.Lys603=)
|
|
|
NM_003742.4(ABCB11):c.180_181dup (p.Leu61fs)
|
|
|
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)
|
rs199671371
|
|
NM_003742.4(ABCB11):c.1927T>C (p.Leu643=)
|
rs1693471170
|
|
NM_003742.4(ABCB11):c.1943G>A (p.Gly648Asp)
|
|
|
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs)
|
rs1064797270
|
|
NM_003742.4(ABCB11):c.1996G>T (p.Glu666Ter)
|
|
|
NM_003742.4(ABCB11):c.2011+1G>T
|
|
|
NM_003742.4(ABCB11):c.2075+3A>G
|
|
|
NM_003742.4(ABCB11):c.2076-1G>A
|
rs2105947080
|
|
NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)
|
|
|
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
|
|
|
NM_003742.4(ABCB11):c.208T>C (p.Phe70Leu)
|
rs1695254190
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
|
|
|
NM_003742.4(ABCB11):c.2178+1G>T
|
|
|
NM_003742.4(ABCB11):c.2178+2T>C
|
rs1693198121
|
|
NM_003742.4(ABCB11):c.2179-1G>A
|
rs2105935255
|
|
NM_003742.4(ABCB11):c.2272G>C (p.Gly758Arg)
|
|
|
NM_003742.4(ABCB11):c.2281_2282del (p.Gly761fs)
|
|
|
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=)
|
rs200087122
|
|
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)
|
|
|
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)
|
rs1692870573
|
|
NM_003742.4(ABCB11):c.2343+1G>C
|
|
|
NM_003742.4(ABCB11):c.2343+1G>T
|
rs774411820
|
|
NM_003742.4(ABCB11):c.2413A>G (p.Met805Val)
|
rs1692231118
|
|
NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)
|
|
|
NM_003742.4(ABCB11):c.2432del (p.Phe811fs)
|
|
|
NM_003742.4(ABCB11):c.2448G>A (p.Gln816=)
|
rs2105912786
|
|
NM_003742.4(ABCB11):c.2451del (p.Tyr818fs)
|
rs2105912644
|
|
NM_003742.4(ABCB11):c.2488del (p.Arg830fs)
|
rs756323541
|
|
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)
|
rs376255350
|
|
NM_003742.4(ABCB11):c.2519T>G (p.Leu840Arg)
|
|
|
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
|
|
|
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)
|
rs1258387740
|
|
NM_003742.4(ABCB11):c.2593G>A (p.Ala865Thr)
|
rs886055064
|
|
NM_003742.4(ABCB11):c.2905A>G (p.Lys969Glu)
|
rs886055063
|
|
NM_003742.4(ABCB11):c.2913del (p.Phe971fs)
|
|
|
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg)
|
rs72549399
|
|
NM_003742.4(ABCB11):c.2T>C (p.Met1Thr)
|
|
|
NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)
|
|
|
NM_003742.4(ABCB11):c.3011G>A (p.Gly1004Asp)
|
|
|
NM_003742.4(ABCB11):c.307C>T (p.Pro103Ser)
|
|
|
NM_003742.4(ABCB11):c.3129_3130delinsT (p.Lys1043fs)
|
|
|
NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro)
|
rs747153406
|
|
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs)
|
rs2105891349
|
|
NM_003742.4(ABCB11):c.3190T>C (p.Tyr1064His)
|
rs886055062
|
|
NM_003742.4(ABCB11):c.3224del (p.Gln1075fs)
|
|
|
NM_003742.4(ABCB11):c.3233T>A (p.Ile1078Asn)
|
|
|
NM_003742.4(ABCB11):c.3326T>C (p.Leu1109Pro)
|
rs1553545883
|
|
NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr)
|
rs754048936
|
|
NM_003742.4(ABCB11):c.3352G>A (p.Gly1118Ser)
|
rs1574398620
|
|
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)
|
rs764581483
|
|
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)
|
rs764581483
|
|
NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter)
|
rs2105888359
|
|
NM_003742.4(ABCB11):c.3491del (p.Val1164fs)
|
rs755647308
|
|
NM_003742.4(ABCB11):c.3499G>T (p.Ala1167Ser)
|
rs1691360150
|
|
NM_003742.4(ABCB11):c.3500C>T (p.Ala1167Val)
|
rs1163343377
|
|
NM_003742.4(ABCB11):c.3510_3511insT (p.Met1171fs)
|
|
|
NM_003742.4(ABCB11):c.3546A>C (p.Glu1182Asp)
|
rs887349193
|
|
NM_003742.4(ABCB11):c.3553A>G (p.Met1185Val)
|
rs1691356249
|
|
NM_003742.4(ABCB11):c.3557A>G (p.Glu1186Gly)
|
|
|
NM_003742.4(ABCB11):c.3575C>A (p.Ala1192Glu)
|
rs2105881962
|
|
NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)
|
|
|
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)
|
rs1691232631
|
|
NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)
|
|
|
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)
|
rs761200259
|
|
NM_003742.4(ABCB11):c.3766-34A>G
|
rs579275
|
|
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs)
|
rs387907317
|
|
NM_003742.4(ABCB11):c.379del (p.Thr127fs)
|
rs1558927163
|
|
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
|
|
|
NM_003742.4(ABCB11):c.3804del (p.Thr1269fs)
|
rs1231877314
|
|
NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)
|
|
|
NM_003742.4(ABCB11):c.3875G>A (p.Gly1292Glu)
|
rs1553543921
|
|
NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
|
NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)
|
|
|
NM_003742.4(ABCB11):c.3945del (p.Thr1316fs)
|
rs886043366
|
|
NM_003742.4(ABCB11):c.3946A>G (p.Thr1316Ala)
|
rs1691168576
|
|
NM_003742.4(ABCB11):c.394C>T (p.Leu132=)
|
rs1212884328
|
|
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter)
|
rs1026511416
|
|
NM_003742.4(ABCB11):c.432dup (p.Tyr145fs)
|
|
|
NM_003742.4(ABCB11):c.435T>G (p.Tyr145Ter)
|
|
|
NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr)
|
rs776561679
|
|
NM_003742.4(ABCB11):c.477+8G>T
|
rs745477056
|
|
NM_003742.4(ABCB11):c.489G>A (p.Trp163Ter)
|
|
|
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)
|
|
|
NM_003742.4(ABCB11):c.583G>T (p.Val195Leu)
|
rs762475940
|
|
NM_003742.4(ABCB11):c.585G>A (p.Val195=)
|
rs11568365
|
|
NM_003742.4(ABCB11):c.611+2dup
|
|
|
NM_003742.4(ABCB11):c.611+5G>A
|
|
|
NM_003742.4(ABCB11):c.617_619del (p.Ile206del)
|
|
|
NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
|
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_003742.4(ABCB11):c.713G>A (p.Gly238Asp)
|
rs72551306
|
|
NM_003742.4(ABCB11):c.713G>T (p.Gly238Val)
|
|
|
NM_003742.4(ABCB11):c.721C>T (p.Leu241=)
|
|
|
NM_003742.4(ABCB11):c.76+4A>G
|
|
|
NM_003742.4(ABCB11):c.77-16dup
|
rs746419453
|
|
NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)
|
|
|
NM_003742.4(ABCB11):c.798del (p.Phe266fs)
|
|
|
NM_003742.4(ABCB11):c.807T>G (p.Tyr269Ter)
|
|
|
NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
|
|
|
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys)
|
rs2287617
|
|
NM_003742.4(ABCB11):c.908+1G>C
|
rs147649016
|
|
NM_003742.4(ABCB11):c.908+1del
|
rs1553469602
|
|
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)
|
rs770497192
|
|
NM_003742.4(ABCB11):c.957A>G (p.Gly319=)
|
rs7563233
|
|
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)
|
rs1418620415
|
|
NM_003742.4(ABCB11):c.98+2T>C
|
|
|
NM_003742.4(ABCB11):c.989G>A (p.Trp330Ter)
|
|
|
NM_003742.4(ABCB11):c.998T>A (p.Ile333Asn)
|
rs1558909465
|
|