ClinVar Miner

List of variants in gene ABCB11 studied for not provided

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Gene type:
ClinVar version:
Total variants: 1322
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HGVS dbSNP gnomAD frequency
NM_003742.4(ABCB11):c.2344-17T>C rs853789 0.75457
NM_003742.4(ABCB11):c.3057-263A>G rs494874 0.73641
NM_003742.4(ABCB11):c.909-15A>G rs2287618 0.72659
NM_003742.4(ABCB11):c.1309-165C>T rs2287621 0.66632
NM_003742.4(ABCB11):c.3056+256T>C rs552976 0.65181
NM_003742.4(ABCB11):c.*236A>G rs473351 0.61693
NM_003742.4(ABCB11):c.1084-259G>A rs12692889 0.57174
NM_003742.4(ABCB11):c.1434+70C>T rs2287623 0.57088
NM_003742.4(ABCB11):c.1434+174G>A rs2389605 0.57077
NM_003742.4(ABCB11):c.1639-293G>A rs4140386 0.57010
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.1309-311C>T rs10176901 0.57003
NM_003742.4(ABCB11):c.1639-152G>A rs2193831 0.56988
NM_003742.4(ABCB11):c.1638+80C>T rs2241341 0.56946
NM_003742.4(ABCB11):c.1308+335G>A rs4148785 0.56848
NM_003742.4(ABCB11):c.1435-293_1435-289del rs60323654 0.56777
NM_003742.4(ABCB11):c.2075+188G>T rs2892809 0.52827
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.3765+206A>G rs519035 0.46747
NM_003742.4(ABCB11):c.3765+282A>G rs519887 0.46216
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.2011+218C>T rs5836216 0.42782
NM_003742.4(ABCB11):c.1083+282C>G rs13416802 0.23466
NM_003742.4(ABCB11):c.2178+97A>G rs4148795 0.22653
NM_003742.4(ABCB11):c.2178+98T>C rs4148796 0.22651
NM_003742.4(ABCB11):c.3618+101A>C rs7561903 0.20048
NM_003742.4(ABCB11):c.2076-314T>C rs13404242 0.15310
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.2076-280T>C rs13404228 0.11903
NM_003742.4(ABCB11):c.909-17G>A rs7602204 0.11221
NM_003742.4(ABCB11):c.98+83C>T rs10199694 0.10059
NM_003742.4(ABCB11):c.478-191T>C rs13407866 0.09529
NM_003742.4(ABCB11):c.784-323A>C rs2287613 0.07742
NM_003742.4(ABCB11):c.1084-241A>G rs2287619 0.07400
NM_003742.4(ABCB11):c.1309-93G>A rs55669065 0.07356
NM_003742.4(ABCB11):c.-28+122A>T rs13416851 0.07167
NM_003742.4(ABCB11):c.3056+99A>G rs61587142 0.06860
NM_003742.4(ABCB11):c.1639-273T>C rs2216502 0.06790
NM_003742.4(ABCB11):c.1639-264C>A rs34882395 0.06696
NM_003742.4(ABCB11):c.783+285T>C rs73972740 0.06442
NM_003742.4(ABCB11):c.783+126T>A rs13419622 0.06435
NM_003742.4(ABCB11):c.2029A>G (p.Met677Val) rs11568364 0.06201
NM_003742.4(ABCB11):c.2179-269T>C rs74397894 0.05470
NM_003742.4(ABCB11):c.477+16G>A rs11568378 0.05331
NM_003742.4(ABCB11):c.402C>T (p.Ile134=) rs11568377 0.05330
NM_003742.4(ABCB11):c.-27-50G>A rs4148772 0.05099
NM_003742.4(ABCB11):c.270T>C (p.Phe90=) rs4148777 0.05096
NM_003742.4(ABCB11):c.389+320T>C rs4148778 0.05087
NM_003742.4(ABCB11):c.3618+99C>A rs114932341 0.04954
NM_003742.4(ABCB11):c.784-109A>C rs2287614 0.04571
NM_003742.4(ABCB11):c.390-91A>T rs187464616 0.04438
NM_003742.4(ABCB11):c.2011+218_2011+219del rs201167123 0.04427
NM_003742.4(ABCB11):c.1809+86G>A rs7576531 0.03876
NM_003742.4(ABCB11):c.390-89del rs201421224 0.03227
NM_003742.4(ABCB11):c.1639-292T>C rs6758316 0.03199
NM_003742.4(ABCB11):c.1435-144A>G rs111401162 0.03180
NM_003742.4(ABCB11):c.909-69C>T rs55652734 0.03174
NM_003742.4(ABCB11):c.909-31C>T rs55968806 0.03171
NM_003742.4(ABCB11):c.478-129G>A rs17208900 0.03160
NM_003742.4(ABCB11):c.1809+118T>C rs80049571 0.02819
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.1810-122C>A rs75043801 0.02575
NM_003742.4(ABCB11):c.909-107C>T rs7602485 0.02520
NM_003742.4(ABCB11):c.389+90C>G rs11902627 0.02491
NM_003742.4(ABCB11):c.389+8G>A rs11568363 0.02444
NM_003742.4(ABCB11):c.1083+18A>T rs7560402 0.02434
NM_003742.4(ABCB11):c.1083+213G>T rs146292839 0.02432
NM_003742.4(ABCB11):c.1638+128del rs55868238 0.02240
NM_003742.4(ABCB11):c.2610+174T>C rs75899188 0.01757
NM_003742.4(ABCB11):c.1308+122G>A rs77540371 0.01660
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.784-87T>A rs2287615 0.01133
NM_003742.4(ABCB11):c.108T>C (p.Asp36=) rs3815675 0.01118
NM_003742.4(ABCB11):c.1308+116G>A rs4148783 0.01110
NM_003742.4(ABCB11):c.1810-124G>A rs2389612 0.01101
NM_003742.4(ABCB11):c.77-17del rs11568375 0.01069
NM_003742.4(ABCB11):c.3214-115G>A rs183562693 0.00970
NM_003742.4(ABCB11):c.2012-89T>C rs75793686 0.00946
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_003742.4(ABCB11):c.390-89A>T rs546799530 0.00772
NM_003742.4(ABCB11):c.2011+87A>C rs142345608 0.00702
NM_003742.4(ABCB11):c.3057-34C>T rs141561365 0.00643
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_003742.4(ABCB11):c.1435-129G>A rs141899900 0.00525
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.2344-122T>C rs79777432 0.00341
NM_003742.4(ABCB11):c.616A>G (p.Ile206Val) rs11568357 0.00297
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
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.3548T>C (p.Ile1183Thr) rs143484849 0.00116
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.2985G>A (p.Ala995=) rs113923887 0.00086
NM_003742.4(ABCB11):c.3435A>G (p.Lys1145=) rs11568366 0.00086
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.383G>A (p.Arg128His) rs181533618 0.00066
NM_003742.4(ABCB11):c.2610+18A>C rs11568374 0.00065
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.1638+17A>T rs368613163 0.00029
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.477A>G (p.Gln159=) rs191042013 0.00024
NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln) rs368985605 0.00023
NM_003742.4(ABCB11):c.2449-9A>C rs376959410 0.00023
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser) rs201240844 0.00021
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.516G>A (p.Gln172=) rs371303460 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.2343+10C>G rs200824270 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.48G>A (p.Glu16=) rs768192083 0.00012
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.1724G>A (p.Arg575Gln) rs200667815 0.00010
NM_003742.4(ABCB11):c.3132T>C (p.Ala1044=) rs199974713 0.00010
NM_003742.4(ABCB11):c.1055G>A (p.Gly352Glu) rs201351924 0.00009
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) rs11568370 0.00009
NM_003742.4(ABCB11):c.1842T>C (p.Ala614=) rs201589744 0.00009
NM_003742.4(ABCB11):c.1987G>A (p.Ala663Thr) rs371319925 0.00009
NM_003742.4(ABCB11):c.2515A>G (p.Met839Val) rs372757355 0.00009
NM_003742.4(ABCB11):c.2520G>T (p.Leu840=) rs369231927 0.00009
NM_003742.4(ABCB11):c.3618+8C>T rs371084269 0.00009
NM_003742.4(ABCB11):c.3849G>A (p.Ala1283=) rs566857672 0.00009
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00008
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=) rs375137002 0.00008
NM_003742.4(ABCB11):c.2193T>G (p.Pro731=) rs371893470 0.00007
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val) rs372886308 0.00007
NM_003742.4(ABCB11):c.102A>G (p.Leu34=) rs367732132 0.00006
NM_003742.4(ABCB11):c.1465C>G (p.Leu489Val) rs944713270 0.00006
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.3214-7T>A rs377593604 0.00006
NM_003742.4(ABCB11):c.3407A>G (p.Lys1136Arg) rs752974260 0.00006
NM_003742.4(ABCB11):c.3412-7T>C rs757040670 0.00006
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys) rs199841445 0.00006
NM_003742.4(ABCB11):c.1092C>T (p.Leu364=) rs373048820 0.00005
NM_003742.4(ABCB11):c.1664G>C (p.Gly555Ala) rs370566153 0.00005
NM_003742.4(ABCB11):c.1692A>G (p.Lys564=) rs377593886 0.00005
NM_003742.4(ABCB11):c.1741C>G (p.Leu581Val) rs758569602 0.00005
NM_003742.4(ABCB11):c.282C>T (p.Asp94=) rs775605577 0.00005
NM_003742.4(ABCB11):c.3111C>T (p.Tyr1037=) rs767040540 0.00005
NM_003742.4(ABCB11):c.3214-6C>G rs750991541 0.00005
NM_003742.4(ABCB11):c.3618+9G>A rs367984611 0.00005
NM_003742.4(ABCB11):c.3894G>A (p.Gly1298=) rs368858732 0.00005
NM_003742.4(ABCB11):c.696G>T (p.Leu232=) rs11568358 0.00005
NM_003742.4(ABCB11):c.1440C>T (p.Thr480=) rs776665035 0.00004
NM_003742.4(ABCB11):c.155G>A (p.Arg52Gln) rs773884264 0.00004
NM_003742.4(ABCB11):c.1836A>C (p.Ser612=) rs758091247 0.00004
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser) rs779096015 0.00004
NM_003742.4(ABCB11):c.3066T>C (p.Ser1022=) rs374539264 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_003742.4(ABCB11):c.3706G>T (p.Asp1236Tyr) rs377426819 0.00004
NM_003742.4(ABCB11):c.3775G>A (p.Val1259Ile) rs377043039 0.00004
NM_003742.4(ABCB11):c.435T>C (p.Tyr145=) rs766402285 0.00004
NM_003742.4(ABCB11):c.668G>A (p.Arg223His) rs773088249 0.00004
NM_003742.4(ABCB11):c.711G>A (p.Arg237=) rs765070028 0.00004
NM_003742.4(ABCB11):c.76T>A (p.Tyr26Asn) rs372790699 0.00004
NM_003742.4(ABCB11):c.810G>A (p.Glu270=) rs369671177 0.00004
NM_003742.4(ABCB11):c.1029C>T (p.Tyr343=) rs751446926 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.126C>T (p.Gly42=) rs138800291 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.1846C>T (p.Arg616Cys) rs369187042 0.00003
NM_003742.4(ABCB11):c.1905G>A (p.Val635=) rs774534615 0.00003
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=) rs776223452 0.00003
NM_003742.4(ABCB11):c.2194G>C (p.Val732Leu) rs746408716 0.00003
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg) rs763782349 0.00003
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=) rs367874361 0.00003
NM_003742.4(ABCB11):c.3060G>A (p.Val1020=) rs368622067 0.00003
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=) rs750944055 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003742.4(ABCB11):c.3501C>T (p.Ala1167=) rs781443931 0.00003
NM_003742.4(ABCB11):c.3629C>G (p.Thr1210Ser) rs1033490064 0.00003
NM_003742.4(ABCB11):c.3634G>A (p.Val1212Ile) rs546906441 0.00003
NM_003742.4(ABCB11):c.3957C>G (p.Pro1319=) rs755385816 0.00003
NM_003742.4(ABCB11):c.498C>T (p.Ala166=) rs748609717 0.00003
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser) rs758339239 0.00003
NM_003742.4(ABCB11):c.801G>A (p.Thr267=) rs753433179 0.00003
NM_003742.4(ABCB11):c.908+1G>A rs147649016 0.00003
NM_003742.4(ABCB11):c.93A>G (p.Lys31=) rs763739898 0.00003
NM_003742.4(ABCB11):c.1188A>G (p.Thr396=) rs1241521429 0.00002
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp) rs763526610 0.00002
NM_003742.4(ABCB11):c.1583T>C (p.Ile528Thr) rs886044201 0.00002
NM_003742.4(ABCB11):c.1638+8del rs774214851 0.00002
NM_003742.4(ABCB11):c.1674G>A (p.Gln558=) rs11568369 0.00002
NM_003742.4(ABCB11):c.1699G>A (p.Val567Ile) rs886055066 0.00002
NM_003742.4(ABCB11):c.1732A>G (p.Lys578Glu) rs1389106831 0.00002
NM_003742.4(ABCB11):c.1740G>T (p.Leu580=) rs780236155 0.00002
NM_003742.4(ABCB11):c.181C>T (p.Leu61=) rs1446840722 0.00002
NM_003742.4(ABCB11):c.1965T>G (p.Thr655=) rs200156612 0.00002
NM_003742.4(ABCB11):c.2135T>C (p.Leu712Ser) rs372939910 0.00002
NM_003742.4(ABCB11):c.2295C>T (p.Asn765=) rs202158121 0.00002
NM_003742.4(ABCB11):c.2453A>T (p.Tyr818Phe) rs374548469 0.00002
NM_003742.4(ABCB11):c.2472G>A (p.Gly824=) rs773596715 0.00002
NM_003742.4(ABCB11):c.2479C>T (p.Leu827=) rs777104186 0.00002
NM_003742.4(ABCB11):c.283G>A (p.Val95Ile) rs201735739 0.00002
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter) rs72549396 0.00002
NM_003742.4(ABCB11):c.3279G>A (p.Ser1093=) rs368393726 0.00002
NM_003742.4(ABCB11):c.3303G>A (p.Val1101=) rs951533342 0.00002
NM_003742.4(ABCB11):c.330C>T (p.Asn110=) rs754763647 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.3771G>T (p.Val1257=) rs1329421610 0.00002
NM_003742.4(ABCB11):c.450C>T (p.Val150=) rs376327318 0.00002
NM_003742.4(ABCB11):c.675C>G (p.Thr225=) rs375436478 0.00002
NM_003742.4(ABCB11):c.697T>C (p.Leu233=) rs766348624 0.00002
NM_003742.4(ABCB11):c.738T>C (p.Ile246=) rs201248392 0.00002
NM_003742.4(ABCB11):c.741T>C (p.Ser247=) rs760247417 0.00002
NM_003742.4(ABCB11):c.76+1G>A rs1413569310 0.00002
NM_003742.4(ABCB11):c.854T>C (p.Ile285Thr) rs763412030 0.00002
NM_003742.4(ABCB11):c.869C>G (p.Thr290Arg) rs886043363 0.00002
NM_003742.4(ABCB11):c.908+10T>C rs766985935 0.00002
NM_003742.4(ABCB11):c.1011T>C (p.Tyr337=) rs1436925276 0.00001
NM_003742.4(ABCB11):c.1089C>T (p.Phe363=) rs1694081206 0.00001
NM_003742.4(ABCB11):c.1098C>T (p.Val366=) rs565224768 0.00001
NM_003742.4(ABCB11):c.1209T>A (p.Ile403=) rs374115690 0.00001
NM_003742.4(ABCB11):c.1305G>C (p.Val435=) rs761320273 0.00001
NM_003742.4(ABCB11):c.130A>C (p.Arg44=) rs1452393191 0.00001
NM_003742.4(ABCB11):c.1350G>T (p.Met450Ile) rs542821407 0.00001
NM_003742.4(ABCB11):c.1356T>A (p.Ala452=) rs1693700717 0.00001
NM_003742.4(ABCB11):c.1360G>T (p.Val454Leu) rs758400152 0.00001
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter) rs774824767 0.00001
NM_003742.4(ABCB11):c.1410A>T (p.Arg470=) rs775872026 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.1524C>T (p.Phe508=) rs780698425 0.00001
NM_003742.4(ABCB11):c.1533C>T (p.Thr511=) rs765678675 0.00001
NM_003742.4(ABCB11):c.1539A>G (p.Ala513=) rs1049771316 0.00001
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His) rs760750012 0.00001
NM_003742.4(ABCB11):c.1573A>G (p.Met525Val) rs886043874 0.00001
NM_003742.4(ABCB11):c.1628A>G (p.Asp543Gly) rs200687717 0.00001
NM_003742.4(ABCB11):c.1647C>T (p.Asp549=) rs1244153418 0.00001
NM_003742.4(ABCB11):c.164C>A (p.Ser55Ter) rs1447134419 0.00001
NM_003742.4(ABCB11):c.1696A>C (p.Arg566=) rs763391770 0.00001
NM_003742.4(ABCB11):c.1707C>T (p.Ile569=) rs773712534 0.00001
NM_003742.4(ABCB11):c.1711A>C (p.Arg571=) rs1175336714 0.00001
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val) rs917981474 0.00001
NM_003742.4(ABCB11):c.1769A>G (p.Asp590Gly) rs886044710 0.00001
NM_003742.4(ABCB11):c.1810-10A>G rs748056497 0.00001
NM_003742.4(ABCB11):c.1821G>A (p.Gly607=) rs1205945949 0.00001
NM_003742.4(ABCB11):c.1832T>C (p.Ile611Thr) rs1469344983 0.00001
NM_003742.4(ABCB11):c.1837G>A (p.Val613Ile) rs1243148431 0.00001
NM_003742.4(ABCB11):c.1847G>A (p.Arg616His) rs777021400 0.00001
NM_003742.4(ABCB11):c.1932G>A (p.Leu644=) rs750100537 0.00001
NM_003742.4(ABCB11):c.1964C>T (p.Thr655Ile) rs775969731 0.00001
NM_003742.4(ABCB11):c.1977G>A (p.Gln659=) rs566358350 0.00001
NM_003742.4(ABCB11):c.1998A>G (p.Glu666=) rs532302515 0.00001
NM_003742.4(ABCB11):c.2011+18A>G rs181357802 0.00001
NM_003742.4(ABCB11):c.2016A>T (p.Ala672=) rs886055065 0.00001
NM_003742.4(ABCB11):c.2028C>T (p.Asp676=) rs770462504 0.00001
NM_003742.4(ABCB11):c.2075+7T>A rs768511849 0.00001
NM_003742.4(ABCB11):c.207A>G (p.Ala69=) rs1695254277 0.00001
NM_003742.4(ABCB11):c.2124C>T (p.His708=) rs765432258 0.00001
NM_003742.4(ABCB11):c.2130T>C (p.Pro710=) rs1319784595 0.00001
NM_003742.4(ABCB11):c.2163T>C (p.Tyr721=) rs762791891 0.00001
NM_003742.4(ABCB11):c.216T>C (p.His72=) rs1174260635 0.00001
NM_003742.4(ABCB11):c.2178+10C>T rs982481851 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.2221G>A (p.Val741Ile) rs756337359 0.00001
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter) rs886043986 0.00001
NM_003742.4(ABCB11):c.2313G>A (p.Leu771=) rs771508744 0.00001
NM_003742.4(ABCB11):c.2331C>T (p.Ser777=) rs375098674 0.00001
NM_003742.4(ABCB11):c.2343+8C>T rs771498066 0.00001
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter) rs1060499579 0.00001
NM_003742.4(ABCB11):c.2385C>T (p.Ile795=) rs1239693151 0.00001
NM_003742.4(ABCB11):c.2439A>G (p.Gln813=) rs776712250 0.00001
NM_003742.4(ABCB11):c.2457C>A (p.Ala819=) rs1398103963 0.00001
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=) rs775663263 0.00001
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys) rs772294884 0.00001
NM_003742.4(ABCB11):c.251G>A (p.Gly84Asp) rs762571776 0.00001
NM_003742.4(ABCB11):c.2535C>T (p.Ala845=) rs1347731818 0.00001
NM_003742.4(ABCB11):c.2568A>G (p.Ala856=) rs750005514 0.00001
NM_003742.4(ABCB11):c.2610+7T>C rs774541851 0.00001
NM_003742.4(ABCB11):c.2610+8A>G rs200829550 0.00001
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn) rs760920706 0.00001
NM_003742.4(ABCB11):c.2893A>T (p.Thr965Ser) rs187663132 0.00001
NM_003742.4(ABCB11):c.294A>G (p.Gln98=) rs1337142273 0.00001
NM_003742.4(ABCB11):c.2988T>C (p.Asn996=) rs762824612 0.00001
NM_003742.4(ABCB11):c.3005A>G (p.Tyr1002Cys) rs1235000659 0.00001
NM_003742.4(ABCB11):c.3016T>C (p.Leu1006=) rs372157024 0.00001
NM_003742.4(ABCB11):c.3057-10C>T rs540856948 0.00001
NM_003742.4(ABCB11):c.3057-12G>A rs748204442 0.00001
NM_003742.4(ABCB11):c.3063C>T (p.Ile1021=) rs756998862 0.00001
NM_003742.4(ABCB11):c.3078G>A (p.Leu1026=) rs755806022 0.00001
NM_003742.4(ABCB11):c.3083C>T (p.Ala1028Val) rs1171209104 0.00001
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys) rs72549398 0.00001
NM_003742.4(ABCB11):c.3165G>T (p.Leu1055=) rs778702455 0.00001
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter) rs72549397 0.00001
NM_003742.4(ABCB11):c.3177C>T (p.Pro1059=) rs575992447 0.00001
NM_003742.4(ABCB11):c.3201A>G (p.Ala1067=) rs1354181423 0.00001
NM_003742.4(ABCB11):c.3204T>C (p.Gly1068=) rs751126624 0.00001
NM_003742.4(ABCB11):c.3213+10G>A rs1330347783 0.00001
NM_003742.4(ABCB11):c.3214-9C>T rs1171981325 0.00001
NM_003742.4(ABCB11):c.3229A>G (p.Lys1077Glu) rs1339313529 0.00001
NM_003742.4(ABCB11):c.3255T>C (p.Phe1085=) rs1016688353 0.00001
NM_003742.4(ABCB11):c.3276C>T (p.Asp1092=) rs371859686 0.00001
NM_003742.4(ABCB11):c.327T>C (p.Asn109=) rs1393900085 0.00001
NM_003742.4(ABCB11):c.3306G>T (p.Ser1102=) rs377691925 0.00001
NM_003742.4(ABCB11):c.3308T>C (p.Ile1103Thr) rs1480979213 0.00001
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His) rs756220860 0.00001
NM_003742.4(ABCB11):c.3412-10C>T rs767761242 0.00001
NM_003742.4(ABCB11):c.3412-13C>T rs753065852 0.00001
NM_003742.4(ABCB11):c.3426T>G (p.His1142Gln) rs200735761 0.00001
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His) rs748862206 0.00001
NM_003742.4(ABCB11):c.3519T>C (p.Asn1173=) rs755107806 0.00001
NM_003742.4(ABCB11):c.3549T>C (p.Ile1183=) rs770770132 0.00001
NM_003742.4(ABCB11):c.3561A>G (p.Arg1187=) rs1318564461 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.3684T>A (p.Ala1228=) rs757268581 0.00001
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln) rs758069019 0.00001
NM_003742.4(ABCB11):c.3723A>G (p.Leu1241=) rs1332690586 0.00001
NM_003742.4(ABCB11):c.3766-10C>T rs369104228 0.00001
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=) rs773371540 0.00001
NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter) rs769983873 0.00001
NM_003742.4(ABCB11):c.3786C>T (p.Asp1262=) rs1367569460 0.00001
NM_003742.4(ABCB11):c.381A>G (p.Thr127=) rs754342321 0.00001
NM_003742.4(ABCB11):c.3854T>A (p.Ile1285Asn) rs773567525 0.00001
NM_003742.4(ABCB11):c.3906A>G (p.Glu1302=) rs375782077 0.00001
NM_003742.4(ABCB11):c.3915C>A (p.Ala1305=) rs1436213702 0.00001
NM_003742.4(ABCB11):c.3937C>T (p.Leu1313=) rs749146516 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.404A>C (p.Glu135Ala) rs1288517834 0.00001
NM_003742.4(ABCB11):c.434A>G (p.Tyr145Cys) rs1334068953 0.00001
NM_003742.4(ABCB11):c.453A>G (p.Ala151=) rs548394775 0.00001
NM_003742.4(ABCB11):c.478A>G (p.Ile160Val) rs774354809 0.00001
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr) rs139641883 0.00001
NM_003742.4(ABCB11):c.537T>C (p.Phe179=) rs1157182058 0.00001
NM_003742.4(ABCB11):c.552A>G (p.Arg184=) rs752623747 0.00001
NM_003742.4(ABCB11):c.588G>C (p.Gly196=) rs548384140 0.00001
NM_003742.4(ABCB11):c.611+1G>A rs769134865 0.00001
NM_003742.4(ABCB11):c.611+8G>C rs1316685102 0.00001
NM_003742.4(ABCB11):c.681C>A (p.Thr227=) rs1401834885 0.00001
NM_003742.4(ABCB11):c.692T>C (p.Phe231Ser) rs756287199 0.00001
NM_003742.4(ABCB11):c.729G>A (p.Leu243=) rs895814774 0.00001
NM_003742.4(ABCB11):c.784-4T>C rs1357491667 0.00001
NM_003742.4(ABCB11):c.78T>C (p.Tyr26=) rs761686526 0.00001
NM_003742.4(ABCB11):c.849A>G (p.Glu283=) rs775018948 0.00001
NM_003742.4(ABCB11):c.884G>A (p.Gly295Asp) rs781303951 0.00001
NM_003742.4(ABCB11):c.900G>A (p.Glu300=) rs1694489538 0.00001
NM_003742.4(ABCB11):c.952A>G (p.Lys318Glu) rs374262721 0.00001
NM_003742.4(ABCB11):c.98+10T>G rs1233474898 0.00001
NM_003742.4(ABCB11):c.984C>T (p.Phe328=) rs769564355 0.00001
GRCh37/hg19 2q31.1(chr2:169787175-169789043)x1
GRCh37/hg19 2q31.1(chr2:169833087-169833197)x1
NC_000002.11:g.(?_169776823)_(169792568_?)del
NC_000002.11:g.(?_169780132)_(169780352_?)del
NC_000002.11:g.(?_169780132)_(169874635_?)del
NC_000002.11:g.(?_169783656)_(169783882_?)del
NC_000002.11:g.(?_169783666)_(169783872_?)del
NC_000002.11:g.(?_169814464)_(169814648_?)del
NC_000002.11:g.(?_169820706)_(169825010_?)del
NC_000002.11:g.(?_169824917)_(169830370_?)del
NC_000002.11:g.(?_169825840)_(169833217_?)del
NC_000002.11:g.(?_169842610)_(169852002_?)del
NC_000002.11:g.(?_169842610)_(169853242_?)dup
NC_000002.11:g.(?_169847291)_(169847455_?)del
NC_000002.11:g.(?_169869772)_(169873319_?)del
NC_000002.12:g.(?_168923612)_(168924813_?)del
NC_000002.12:g.(?_168935174)_(168935435_?)del
NM_003742.4(ABCB11):c.1003T>C (p.Leu335=)
NM_003742.4(ABCB11):c.1005G>A (p.Leu335=)
NM_003742.4(ABCB11):c.1020C>T (p.Ala340=) rs779673853
NM_003742.4(ABCB11):c.1029C>G (p.Tyr343Ter)
NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
NM_003742.4(ABCB11):c.1035C>T (p.Ser345=)
NM_003742.4(ABCB11):c.1041T>C (p.Leu347=)
NM_003742.4(ABCB11):c.1054G>A (p.Gly352Arg)
NM_003742.4(ABCB11):c.1056A>G (p.Gly352=)
NM_003742.4(ABCB11):c.1059A>T (p.Glu353Asp) rs764569354
NM_003742.4(ABCB11):c.1064C>T (p.Thr355Ile) rs767525336
NM_003742.4(ABCB11):c.1069G>T (p.Gly357Ter) rs886043935
NM_003742.4(ABCB11):c.1074C>A (p.Thr358=)
NM_003742.4(ABCB11):c.1083+12T>G
NM_003742.4(ABCB11):c.1083+15T>C
NM_003742.4(ABCB11):c.1083+19C>T
NM_003742.4(ABCB11):c.1083+20C>T
NM_003742.4(ABCB11):c.1083+2T>C rs2105996078
NM_003742.4(ABCB11):c.1083+8G>C rs768606858
NM_003742.4(ABCB11):c.1083+9_1083+17del
NM_003742.4(ABCB11):c.1084-10T>G rs2105984949
NM_003742.4(ABCB11):c.1084-17C>T
NM_003742.4(ABCB11):c.1084-19C>T
NM_003742.4(ABCB11):c.1084-19CT[3] rs538484351
NM_003742.4(ABCB11):c.1084-209A>C rs2287620
NM_003742.4(ABCB11):c.1084-219del rs3214428
NM_003742.4(ABCB11):c.1092C>A (p.Leu364=)
NM_003742.4(ABCB11):c.1095T>C (p.Ser365=) rs1694080804
NM_003742.4(ABCB11):c.1108G>A (p.Ala370Thr)
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.1128C>T (p.Ala376=) rs1694079257
NM_003742.4(ABCB11):c.1131T>C (p.Ser377=) rs2105984744
NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs) rs2105984736
NM_003742.4(ABCB11):c.1138T>C (p.Leu380=)
NM_003742.4(ABCB11):c.1140G>A (p.Leu380=)
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del) rs1553468235
NM_003742.4(ABCB11):c.1158A>G (p.Gly386=)
NM_003742.4(ABCB11):c.1158A>T (p.Gly386=)
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
NM_003742.4(ABCB11):c.1177A>G (p.Ile393Val)
NM_003742.4(ABCB11):c.1182T>C (p.Phe394=)
NM_003742.4(ABCB11):c.1190_1197+15del
NM_003742.4(ABCB11):c.1192G>A (p.Asp398Asn) rs1558905159
NM_003742.4(ABCB11):c.1197+12C>G
NM_003742.4(ABCB11):c.1197+13C>T rs781492309
NM_003742.4(ABCB11):c.1197+180_1197+193del rs55859131
NM_003742.4(ABCB11):c.1197+183_1197+193del rs55859131
NM_003742.4(ABCB11):c.1197+190_1197+193del rs55859131
NM_003742.4(ABCB11):c.1197+191_1197+193del
NM_003742.4(ABCB11):c.1197+193dup
NM_003742.4(ABCB11):c.1197+4T>C
NM_003742.4(ABCB11):c.1197+8del rs2105984446
NM_003742.4(ABCB11):c.1198-10T>G
NM_003742.4(ABCB11):c.1198-14_1198-13del
NM_003742.4(ABCB11):c.1198-16T>C
NM_003742.4(ABCB11):c.1198-250C>A rs28727965
NM_003742.4(ABCB11):c.1198-2A>C
NM_003742.4(ABCB11):c.1198-302G>T rs28719023
NM_003742.4(ABCB11):c.1198-4C>A rs762254837
NM_003742.4(ABCB11):c.1198-4C>G rs762254837
NM_003742.4(ABCB11):c.1198-5T>C rs1693921718
NM_003742.4(ABCB11):c.1198-7A>T
NM_003742.4(ABCB11):c.1206C>A (p.Ile402=) rs1574458903
NM_003742.4(ABCB11):c.120T>C (p.Gly40=) rs2106050027
NM_003742.4(ABCB11):c.1213T>G (p.Cys405Gly)
NM_003742.4(ABCB11):c.1227T>C (p.Asp409=)
NM_003742.4(ABCB11):c.1236G>A (p.Lys412=)
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter) rs913644236
NM_003742.4(ABCB11):c.1244G>C (p.Arg415Pro) rs371656014
NM_003742.4(ABCB11):c.1248C>T (p.Ile416=) rs183390670
NM_003742.4(ABCB11):c.1259T>C (p.Ile420Thr)
NM_003742.4(ABCB11):c.1263A>G (p.Glu421=)
NM_003742.4(ABCB11):c.1268A>G (p.His423Arg)
NM_003742.4(ABCB11):c.126C>A (p.Gly42=) rs138800291
NM_003742.4(ABCB11):c.1271del (p.Asn424fs) rs886043703
NM_003742.4(ABCB11):c.1272T>C (p.Asn424=) rs918168355
NM_003742.4(ABCB11):c.1275G>A (p.Val425=) rs2105977285
NM_003742.4(ABCB11):c.127G>T (p.Val43Phe) rs183406496
NM_003742.4(ABCB11):c.1293C>T (p.Ser431=) rs2105977216
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr) rs121908935
NM_003742.4(ABCB11):c.1297C>G (p.Pro433Ala) rs886044714
NM_003742.4(ABCB11):c.1308+15G>C
NM_003742.4(ABCB11):c.1308+18C>A
NM_003742.4(ABCB11):c.1308+18C>T
NM_003742.4(ABCB11):c.1308+20C>G
NM_003742.4(ABCB11):c.1308+326C>G rs4148784
NM_003742.4(ABCB11):c.1308+7G>A
NM_003742.4(ABCB11):c.1308+7G>T
NM_003742.4(ABCB11):c.1309-13C>A
NM_003742.4(ABCB11):c.1309-14T>C
NM_003742.4(ABCB11):c.1309-18G>A
NM_003742.4(ABCB11):c.1309-5T>C rs1248856155
NM_003742.4(ABCB11):c.1320C>T (p.Asp440=) rs2105968351
NM_003742.4(ABCB11):c.1323C>T (p.Leu441=) rs2105968343
NM_003742.4(ABCB11):c.1324A>T (p.Asn442Tyr)
NM_003742.4(ABCB11):c.132A>G (p.Arg44=) rs2106049981
NM_003742.4(ABCB11):c.1333A>T (p.Ile445Phe)
NM_003742.4(ABCB11):c.1339C>T (p.Pro447Ser)
NM_003742.4(ABCB11):c.1341A>G (p.Pro447=) rs1386002470
NM_003742.4(ABCB11):c.1349T>C (p.Met450Thr)
NM_003742.4(ABCB11):c.1354_1427del (p.Ala452fs) rs1574453486
NM_003742.4(ABCB11):c.1359G>T (p.Leu453=)
NM_003742.4(ABCB11):c.1380A>G (p.Gly460=) rs2105968110
NM_003742.4(ABCB11):c.1381A>G (p.Lys461Glu)
NM_003742.4(ABCB11):c.1396C>T (p.Gln466Ter)
NM_003742.4(ABCB11):c.1398A>G (p.Gln466=) rs1384447459
NM_003742.4(ABCB11):c.1404T>A (p.Ile468=) rs34200464
NM_003742.4(ABCB11):c.1407G>A (p.Gln469=) rs2105967959
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln) rs1463057954
NM_003742.4(ABCB11):c.1409G>T (p.Arg470Leu)
NM_003742.4(ABCB11):c.1417_1418insTGATTCCTTC (p.Asp473fs) rs1574453508
NM_003742.4(ABCB11):c.1421C>G (p.Pro474Arg) rs1431047015
NM_003742.4(ABCB11):c.1422del (p.Cys475fs) rs2105967878
NM_003742.4(ABCB11):c.1429G>T (p.Gly477Ter) rs2105967839
NM_003742.4(ABCB11):c.1434+16A>C
NM_003742.4(ABCB11):c.1434+16A>G
NM_003742.4(ABCB11):c.1434+19C>T
NM_003742.4(ABCB11):c.1434+20T>C
NM_003742.4(ABCB11):c.1434+9C>T rs2105967781
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1435-1G>A
NM_003742.4(ABCB11):c.1435-21TGT[3]
NM_003742.4(ABCB11):c.1435-5T>C
NM_003742.4(ABCB11):c.1435-9G>T rs1265957568
NM_003742.4(ABCB11):c.1435G>A (p.Val479Met) rs1693604604
NM_003742.4(ABCB11):c.1441G>A (p.Val481Met)
NM_003742.4(ABCB11):c.1442T>A (p.Val481Glu) rs1693604030
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn) rs1558897179
NM_003742.4(ABCB11):c.1452T>C (p.His484=) rs2105964356
NM_003742.4(ABCB11):c.1455C>T (p.Asp485=) rs2105964337
NM_003742.4(ABCB11):c.1459C>T (p.Arg487Cys)
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro) rs188824058
NM_003742.4(ABCB11):c.1460G>T (p.Arg487Leu)
NM_003742.4(ABCB11):c.1467T>C (p.Leu489=) rs2105964295
NM_003742.4(ABCB11):c.1472T>G (p.Ile491Ser) rs1558897117
NM_003742.4(ABCB11):c.1473T>A (p.Ile491=)
NM_003742.4(ABCB11):c.147A>T (p.Gln49His) rs759100946
NM_003742.4(ABCB11):c.1482T>A (p.Leu494=)
NM_003742.4(ABCB11):c.1483A>C (p.Arg495=)
NM_003742.4(ABCB11):c.1485A>G (p.Arg495=) rs2105964231
NM_003742.4(ABCB11):c.148T>C (p.Leu50=)
NM_003742.4(ABCB11):c.1497G>T (p.Gly499=)
NM_003742.4(ABCB11):c.150+12G>C
NM_003742.4(ABCB11):c.150+12G>T
NM_003742.4(ABCB11):c.150+14G>A
NM_003742.4(ABCB11):c.150+18A>C
NM_003742.4(ABCB11):c.150+18A>T
NM_003742.4(ABCB11):c.150+1G>A rs886043875
NM_003742.4(ABCB11):c.150+2T>C rs1210590064
NM_003742.4(ABCB11):c.150+3A>C rs387906354
NM_003742.4(ABCB11):c.150+4A>C rs1558927997
NM_003742.4(ABCB11):c.1506G>A (p.Glu502=) rs1693599346
NM_003742.4(ABCB11):c.151-10G>A
NM_003742.4(ABCB11):c.151-15C>A
NM_003742.4(ABCB11):c.151-15C>G
NM_003742.4(ABCB11):c.151-16C>A
NM_003742.4(ABCB11):c.151-16C>T
NM_003742.4(ABCB11):c.151-275G>T rs2241339
NM_003742.4(ABCB11):c.151-2A>G
NM_003742.4(ABCB11):c.151-9T>C rs765860589
NM_003742.4(ABCB11):c.1512G>A (p.Glu504=) rs1486107533
NM_003742.4(ABCB11):c.1515A>G (p.Pro505=) rs2105964102
NM_003742.4(ABCB11):c.1519C>T (p.Leu507=) rs1322694715
NM_003742.4(ABCB11):c.1521G>A (p.Leu507=)
NM_003742.4(ABCB11):c.1529C>T (p.Thr510Ile) rs2105964051
NM_003742.4(ABCB11):c.1535T>C (p.Ile512Thr) rs886044202
NM_003742.4(ABCB11):c.1539A>C (p.Ala513=) rs1049771316
NM_003742.4(ABCB11):c.1542A>G (p.Glu514=) rs2105963973
NM_003742.4(ABCB11):c.1543A>G (p.Asn515Asp)
NM_003742.4(ABCB11):c.1552_1555dup (p.Gly519fs)
NM_003742.4(ABCB11):c.1554T>C (p.Tyr518=) rs2105963892
NM_003742.4(ABCB11):c.1558A>C (p.Arg520=) rs1162621436
NM_003742.4(ABCB11):c.1569A>G (p.Ala523=)
NM_003742.4(ABCB11):c.156G>C (p.Arg52=) rs140587295
NM_003742.4(ABCB11):c.1596C>T (p.Ala532=)
NM_003742.4(ABCB11):c.1599G>A (p.Lys533=) rs2105963749
NM_003742.4(ABCB11):c.1600G>A (p.Glu534Lys) rs746501606
NM_003742.4(ABCB11):c.1605C>A (p.Ala535=) rs144848376
NM_003742.4(ABCB11):c.1608T>C (p.Asn536=) rs1227759001
NM_003742.4(ABCB11):c.1617C>T (p.Asn539=)
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.1631del (p.Leu544fs) rs1553466489
NM_003742.4(ABCB11):c.1635A>G (p.Pro545=)
NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)
NM_003742.4(ABCB11):c.1638+11C>T
NM_003742.4(ABCB11):c.1638+12C>T
NM_003742.4(ABCB11):c.1638+15A>G
NM_003742.4(ABCB11):c.1638+16C>A
NM_003742.4(ABCB11):c.1638+20C>A
NM_003742.4(ABCB11):c.1638+7C>T rs771638310
NM_003742.4(ABCB11):c.1638+7_1638+16dup
NM_003742.4(ABCB11):c.1638+9A>G rs2105963470
NM_003742.4(ABCB11):c.1638G>A (p.Gln546=) rs1558896713
NM_003742.4(ABCB11):c.1639-12C>T
NM_003742.4(ABCB11):c.1639-14C>T
NM_003742.4(ABCB11):c.1639-17T>C
NM_003742.4(ABCB11):c.1639-18del
NM_003742.4(ABCB11):c.1639-20T>C
NM_003742.4(ABCB11):c.1639-4C>G rs780324076
NM_003742.4(ABCB11):c.1639-7C>T rs1574448346
NM_003742.4(ABCB11):c.1649C>A (p.Thr550Asn) rs757224691
NM_003742.4(ABCB11):c.1653T>A (p.Leu551=)
NM_003742.4(ABCB11):c.1654del (p.Val552fs) rs1693519718
NM_003742.4(ABCB11):c.1668A>G (p.Gly556=)
NM_003742.4(ABCB11):c.166T>C (p.Ser56Pro)
NM_003742.4(ABCB11):c.1670G>A (p.Gly557Asp) rs886043762
NM_003742.4(ABCB11):c.1672C>T (p.Gln558Ter)
NM_003742.4(ABCB11):c.1678A>G (p.Ser560Gly)
NM_003742.4(ABCB11):c.167C>G (p.Ser56Ter) rs11568361
NM_003742.4(ABCB11):c.1682G>A (p.Gly561Asp) rs1558895094
NM_003742.4(ABCB11):c.1689G>A (p.Gln563=) rs1574448230
NM_003742.4(ABCB11):c.1698G>A (p.Arg566=) rs1026929124
NM_003742.4(ABCB11):c.1701A>C (p.Val567=) rs1363402394
NM_003742.4(ABCB11):c.1701A>G (p.Val567=)
NM_003742.4(ABCB11):c.1705dup (p.Ile569fs)
NM_003742.4(ABCB11):c.1707C>A (p.Ile569=)
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser) rs886043807
NM_003742.4(ABCB11):c.1716C>T (p.Ala572=) rs2105959906
NM_003742.4(ABCB11):c.171T>C (p.Thr57=)
NM_003742.4(ABCB11):c.1722C>A (p.Ile574=)
NM_003742.4(ABCB11):c.1731C>T (p.Pro577=)
NM_003742.4(ABCB11):c.1733del (p.Lys578fs)
NM_003742.4(ABCB11):c.173A>C (p.Asp58Ala) rs1553472841
NM_003742.4(ABCB11):c.1752G>A (p.Met584Ile) rs886044053
NM_003742.4(ABCB11):c.1752G>T (p.Met584Ile) rs886044053
NM_003742.4(ABCB11):c.1754C>A (p.Ala585Asp) rs2105959754
NM_003742.4(ABCB11):c.1756del (p.Thr586fs)
NM_003742.4(ABCB11):c.1763C>G (p.Ala588Gly)
NM_003742.4(ABCB11):c.1779T>C (p.Ser593=)
NM_003742.4(ABCB11):c.179G>A (p.Trp60Ter)
NM_003742.4(ABCB11):c.1802T>C (p.Leu601Pro) rs886044602
NM_003742.4(ABCB11):c.1803G>A (p.Leu601=)
NM_003742.4(ABCB11):c.1807A>G (p.Lys603Glu)
NM_003742.4(ABCB11):c.1809+20C>A
NM_003742.4(ABCB11):c.1809+8G>A rs1574447919
NM_003742.4(ABCB11):c.1810-12A>G
NM_003742.4(ABCB11):c.1810-17A>G
NM_003742.4(ABCB11):c.1810-18C>T rs1574447276
NM_003742.4(ABCB11):c.1810-19G>A
NM_003742.4(ABCB11):c.1810-19G>T
NM_003742.4(ABCB11):c.1810-1G>A rs1553466082
NM_003742.4(ABCB11):c.1810-4A>G
NM_003742.4(ABCB11):c.1810-5T>G rs2105958419
NM_003742.4(ABCB11):c.1810-8T>A
NM_003742.4(ABCB11):c.1815G>A (p.Gln605=)
NM_003742.4(ABCB11):c.1826_1827dup (p.Ile610fs) rs1693477912
NM_003742.4(ABCB11):c.1827A>C (p.Thr609=)
NM_003742.4(ABCB11):c.1830C>T (p.Ile610=)
NM_003742.4(ABCB11):c.1839T>G (p.Val613=)
NM_003742.4(ABCB11):c.1842T>A (p.Ala614=) rs201589744
NM_003742.4(ABCB11):c.1848C>G (p.Arg616=) rs2105958253
NM_003742.4(ABCB11):c.1851G>A (p.Leu617=)
NM_003742.4(ABCB11):c.1857G>C (p.Thr619=)
NM_003742.4(ABCB11):c.1857G>T (p.Thr619=) rs760948323
NM_003742.4(ABCB11):c.1869A>C (p.Ala623=)
NM_003742.4(ABCB11):c.1871A>T (p.Asp624Val) rs776055806
NM_003742.4(ABCB11):c.1875C>T (p.Thr625=)
NM_003742.4(ABCB11):c.1880T>C (p.Ile627Thr) rs1558894309
NM_003742.4(ABCB11):c.1887T>C (p.Phe629=) rs1259342035
NM_003742.4(ABCB11):c.1893T>C (p.His631=) rs1574447074
NM_003742.4(ABCB11):c.1896C>A (p.Gly632=)
NM_003742.4(ABCB11):c.1900G>A (p.Ala634Thr) rs794727169
NM_003742.4(ABCB11):c.1902A>G (p.Ala634=)
NM_003742.4(ABCB11):c.1906G>A (p.Glu636Lys)
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly) rs199671371
NM_003742.4(ABCB11):c.1907A>T (p.Glu636Val)
NM_003742.4(ABCB11):c.1917C>G (p.Thr639=)
NM_003742.4(ABCB11):c.1923A>G (p.Glu641=)
NM_003742.4(ABCB11):c.1941del (p.Gly648fs) rs1470131264
NM_003742.4(ABCB11):c.1948del (p.Tyr650fs) rs1558894166
NM_003742.4(ABCB11):c.1950C>T (p.Tyr650=)
NM_003742.4(ABCB11):c.1956T>C (p.Thr652=)
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs) rs1064797270
NM_003742.4(ABCB11):c.1976A>G (p.Gln659Arg)
NM_003742.4(ABCB11):c.1979del (p.Gly660fs)
NM_003742.4(ABCB11):c.2001G>A (p.Glu667=)
NM_003742.4(ABCB11):c.2010G>C (p.Lys670Asn) rs1553466025
NM_003742.4(ABCB11):c.2011+13T>C
NM_003742.4(ABCB11):c.2011+16C>G
NM_003742.4(ABCB11):c.2011+17T>C
NM_003742.4(ABCB11):c.2011+1G>C
NM_003742.4(ABCB11):c.2011+1G>T
NM_003742.4(ABCB11):c.2011+218del rs35908291
NM_003742.4(ABCB11):c.2011+219dup rs66474338
NM_003742.4(ABCB11):c.2011+233del rs66474338
NM_003742.4(ABCB11):c.2011+3A>C rs1553466024
NM_003742.4(ABCB11):c.2011+8C>G rs896725376
NM_003742.4(ABCB11):c.2012-11G>A
NM_003742.4(ABCB11):c.2012-14G>T
NM_003742.4(ABCB11):c.2012-19C>T
NM_003742.4(ABCB11):c.2012-248del rs34849968
NM_003742.4(ABCB11):c.2012-2A>G
NM_003742.4(ABCB11):c.2012-301del rs4148788
NM_003742.4(ABCB11):c.2012-310dup rs4148788
NM_003742.4(ABCB11):c.2012-8T>C
NM_003742.4(ABCB11):c.2016A>G (p.Ala672=) rs886055065
NM_003742.4(ABCB11):c.2024A>G (p.Asp675Gly)
NM_003742.4(ABCB11):c.2025T>C (p.Asp675=)
NM_003742.4(ABCB11):c.2034T>C (p.Leu678=) rs2105955537
NM_003742.4(ABCB11):c.2037G>T (p.Ala679=) rs776223452
NM_003742.4(ABCB11):c.2039G>A (p.Arg680Lys)
NM_003742.4(ABCB11):c.2043C>T (p.Thr681=)
NM_003742.4(ABCB11):c.2062C>T (p.Gln688Ter)
NM_003742.4(ABCB11):c.2067T>C (p.Asp689=) rs2105955382
NM_003742.4(ABCB11):c.2075+14A>G
NM_003742.4(ABCB11):c.2075+16G>A
NM_003742.4(ABCB11):c.2075+194G>T rs2389613
NM_003742.4(ABCB11):c.2075+19G>A
NM_003742.4(ABCB11):c.2075+19G>T
NM_003742.4(ABCB11):c.2075+20C>G
NM_003742.4(ABCB11):c.2075+289_2075+291dup rs4000815
NM_003742.4(ABCB11):c.2075+289_2075+292dup rs4000815
NM_003742.4(ABCB11):c.2075+295_2075+296insAAAG rs4233822
NM_003742.4(ABCB11):c.2075+5G>A rs1553465880
NM_003742.4(ABCB11):c.2075+9A>G
NM_003742.4(ABCB11):c.2076-13T>C
NM_003742.4(ABCB11):c.2076-16T>C
NM_003742.4(ABCB11):c.2076-18C>G
NM_003742.4(ABCB11):c.2076-291del rs113545972
NM_003742.4(ABCB11):c.2076-4A>G
NM_003742.4(ABCB11):c.2076-7_2076-4del
NM_003742.4(ABCB11):c.2076-9T>C
NM_003742.4(ABCB11):c.2077G>A (p.Ala693Thr) rs748837264
NM_003742.4(ABCB11):c.2079T>C (p.Ala693=) rs2105947054
NM_003742.4(ABCB11):c.2082C>T (p.Ser694=) rs2105947035
NM_003742.4(ABCB11):c.2085C>T (p.Ile695=) rs772992708
NM_003742.4(ABCB11):c.2086C>A (p.Arg696=) rs376216286
NM_003742.4(ABCB11):c.2088G>T (p.Arg696=)
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro) rs867525294
NM_003742.4(ABCB11):c.2100G>A (p.Lys700=)
NM_003742.4(ABCB11):c.2106G>A (p.Gln702=) rs1559207106
NM_003742.4(ABCB11):c.2110T>C (p.Ser704Pro) rs886043478
NM_003742.4(ABCB11):c.2112T>C (p.Ser704=)
NM_003742.4(ABCB11):c.2121G>A (p.Val707=)
NM_003742.4(ABCB11):c.2127A>G (p.Glu709=) rs2105946867
NM_003742.4(ABCB11):c.2139T>C (p.Ala713=)
NM_003742.4(ABCB11):c.2142T>C (p.Val714=)
NM_003742.4(ABCB11):c.2145A>G (p.Val715=)
NM_003742.4(ABCB11):c.2148T>C (p.Asp716=) rs1354664017
NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
NM_003742.4(ABCB11):c.2154G>A (p.Lys718=)
NM_003742.4(ABCB11):c.2160C>A (p.Thr720=)
NM_003742.4(ABCB11):c.2172T>C (p.Asp724=)
NM_003742.4(ABCB11):c.2178+11A>T
NM_003742.4(ABCB11):c.2178+16C>T
NM_003742.4(ABCB11):c.2178+16del
NM_003742.4(ABCB11):c.2178+1G>C rs1459273753
NM_003742.4(ABCB11):c.2178+1G>T
NM_003742.4(ABCB11):c.2178+20T>A
NM_003742.4(ABCB11):c.2178+9C>T rs1321333271
NM_003742.4(ABCB11):c.2179-11C>G
NM_003742.4(ABCB11):c.2179-15CT[3] rs1559202371
NM_003742.4(ABCB11):c.2179-16C>G
NM_003742.4(ABCB11):c.2179-4C>G rs2105935266
NM_003742.4(ABCB11):c.2179-5T>C rs761497435
NM_003742.4(ABCB11):c.2187C>T (p.Asp729=)
NM_003742.4(ABCB11):c.219A>G (p.Gly73=)
NM_003742.4(ABCB11):c.2202A>G (p.Glu734=) rs369865521
NM_003742.4(ABCB11):c.2208T>A (p.Val736=)
NM_003742.4(ABCB11):c.2208T>G (p.Val736=) rs1559202292
NM_003742.4(ABCB11):c.2220A>G (p.Pro740=) rs1692878220
NM_003742.4(ABCB11):c.2223T>A (p.Val741=)
NM_003742.4(ABCB11):c.2226G>A (p.Arg742=)
NM_003742.4(ABCB11):c.2235G>A (p.Leu745=) rs1397040247
NM_003742.4(ABCB11):c.2238A>G (p.Lys746=)
NM_003742.4(ABCB11):c.2238A>T (p.Lys746Asn)
NM_003742.4(ABCB11):c.2256G>A (p.Trp752Ter) rs1401892400
NM_003742.4(ABCB11):c.225C>A (p.Ala75=)
NM_003742.4(ABCB11):c.226C>T (p.Gln76Ter)
NM_003742.4(ABCB11):c.2274G>A (p.Gly758=)
NM_003742.4(ABCB11):c.2277T>C (p.Ser759=) rs1574431765
NM_003742.4(ABCB11):c.2286A>T (p.Ala762=)
NM_003742.4(ABCB11):c.2289T>A (p.Ala763=)
NM_003742.4(ABCB11):c.228G>A (p.Gln76=) rs2106047978
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2298G>T (p.Gly766=)
NM_003742.4(ABCB11):c.2301A>G (p.Thr767=)
NM_003742.4(ABCB11):c.2307A>G (p.Thr769=) rs1574431715
NM_003742.4(ABCB11):c.2316T>A (p.Tyr772Ter) rs1371940395
NM_003742.4(ABCB11):c.2316T>C (p.Tyr772=) rs1371940395
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs) rs1692870573
NM_003742.4(ABCB11):c.2323T>C (p.Leu775=)
NM_003742.4(ABCB11):c.2332C>G (p.Gln778Glu)
NM_003742.4(ABCB11):c.2343+10C>T rs200824270
NM_003742.4(ABCB11):c.2343+127T>C rs853773
NM_003742.4(ABCB11):c.2343+16G>A
NM_003742.4(ABCB11):c.2343+19T>C
NM_003742.4(ABCB11):c.2343+1G>T rs774411820
NM_003742.4(ABCB11):c.2343+20A>G
NM_003742.4(ABCB11):c.2343+2T>C rs2105934712
NM_003742.4(ABCB11):c.2343+9A>G rs749628109
NM_003742.4(ABCB11):c.2344-11A>G
NM_003742.4(ABCB11):c.2344-15T>C
NM_003742.4(ABCB11):c.2344-31_2344-30insAAC rs201279156
NM_003742.4(ABCB11):c.2344-4C>T rs2105913051
NM_003742.4(ABCB11):c.2346T>G (p.Thr782=)
NM_003742.4(ABCB11):c.2349_2350del (p.Ser784fs)
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu) rs886044603
NM_003742.4(ABCB11):c.2370A>G (p.Glu790=)
NM_003742.4(ABCB11):c.2373A>G (p.Gln791=)
NM_003742.4(ABCB11):c.2394G>A (p.Val798=) rs2105912879
NM_003742.4(ABCB11):c.239T>C (p.Leu80Pro) rs886042487
NM_003742.4(ABCB11):c.2409A>G (p.Val803=)
NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)
NM_003742.4(ABCB11):c.2437C>T (p.Gln813Ter) rs2105912800
NM_003742.4(ABCB11):c.2443_2448delinsTTCAGTAAGTGATTTA (p.Leu815_Gln816delinsPheSerLysTer) rs1692230196
NM_003742.4(ABCB11):c.2448+10G>T rs747065554
NM_003742.4(ABCB11):c.2448+9T>C
NM_003742.4(ABCB11):c.2448G>A (p.Gln816=) rs2105912786
NM_003742.4(ABCB11):c.2449-18T>A
NM_003742.4(ABCB11):c.2449-18del
NM_003742.4(ABCB11):c.2449-1G>A
NM_003742.4(ABCB11):c.2449-7G>A
NM_003742.4(ABCB11):c.2449-9A>G rs376959410
NM_003742.4(ABCB11):c.2451A>G (p.Gly817=)
NM_003742.4(ABCB11):c.2451A>T (p.Gly817=)
NM_003742.4(ABCB11):c.2454T>C (p.Tyr818=) rs1692226434
NM_003742.4(ABCB11):c.2471G>A (p.Gly824Glu) rs1559191495
NM_003742.4(ABCB11):c.2475G>A (p.Glu825=) rs2105912570
NM_003742.4(ABCB11):c.2478C>T (p.Leu826=)
NM_003742.4(ABCB11):c.2488del (p.Arg830fs) rs756323541
NM_003742.4(ABCB11):c.2493A>G (p.Leu831=) rs2105912479
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His) rs376255350
NM_003742.4(ABCB11):c.2495G>T (p.Arg832Leu) rs376255350
NM_003742.4(ABCB11):c.2495del (p.Arg832fs) rs1574415738
NM_003742.4(ABCB11):c.252C>T (p.Gly84=) rs1394744569
NM_003742.4(ABCB11):c.2538G>T (p.Trp846Cys) rs1208988638
NM_003742.4(ABCB11):c.2541del (p.Phe847fs) rs1574415650
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
NM_003742.4(ABCB11):c.2547C>T (p.Asp849=)
NM_003742.4(ABCB11):c.2550C>G (p.Leu850=)
NM_003742.4(ABCB11):c.2561del (p.Pro854fs) rs2105912281
NM_003742.4(ABCB11):c.2569T>C (p.Leu857=)
NM_003742.4(ABCB11):c.2574A>G (p.Thr858=) rs754217921
NM_003742.4(ABCB11):c.2574A>T (p.Thr858=)
NM_003742.4(ABCB11):c.2592T>C (p.Asp864=) rs760922641
NM_003742.4(ABCB11):c.2595T>C (p.Ala865=) rs1692216690
NM_003742.4(ABCB11):c.2610+11G>C
NM_003742.4(ABCB11):c.2610+12G>A
NM_003742.4(ABCB11):c.2610+14G>C
NM_003742.4(ABCB11):c.2610+14G>T
NM_003742.4(ABCB11):c.2610+17G>A
NM_003742.4(ABCB11):c.2610+20A>G
NM_003742.4(ABCB11):c.2610+8A>C rs200829550
NM_003742.4(ABCB11):c.2610+9T>A rs2105912127
NM_003742.4(ABCB11):c.2610+9T>C
NM_003742.4(ABCB11):c.262_263del (p.Asp88fs) rs2106047848
NM_003742.4(ABCB11):c.264T>C (p.Asp88=) rs762474269
NM_003742.4(ABCB11):c.265del (p.Val89fs)
NM_003742.4(ABCB11):c.279C>A (p.Tyr93Ter)
NM_003742.4(ABCB11):c.27T>C (p.Ser9=) rs772859713
NM_003742.4(ABCB11):c.285T>C (p.Val95=) rs774481968
NM_003742.4(ABCB11):c.2883A>G (p.Glu961=) rs2105896931
NM_003742.4(ABCB11):c.2892G>A (p.Glu964=) rs2105896903
NM_003742.4(ABCB11):c.2901G>A (p.Leu967=) rs1574405113
NM_003742.4(ABCB11):c.2904G>A (p.Glu968=) rs2105896867
NM_003742.4(ABCB11):c.2907G>C (p.Lys969Asn) rs201881755
NM_003742.4(ABCB11):c.2910C>T (p.Pro970=) rs1691768786
NM_003742.4(ABCB11):c.2916G>A (p.Lys972=) rs1176472259
NM_003742.4(ABCB11):c.2925T>A (p.Ile975=) rs2105896792
NM_003742.4(ABCB11):c.2928G>A (p.Gln976=) rs2105896774
NM_003742.4(ABCB11):c.2934C>A (p.Ala978=)
NM_003742.4(ABCB11):c.2936A>G (p.Asn979Ser)
NM_003742.4(ABCB11):c.2937T>C (p.Asn979=)
NM_003742.4(ABCB11):c.2942del (p.Tyr981fs)
NM_003742.4(ABCB11):c.2944G>A (p.Gly982Arg) rs72549399
NM_003742.4(ABCB11):c.2950del (p.Cys984fs) rs1559183490
NM_003742.4(ABCB11):c.2952C>T (p.Cys984=)
NM_003742.4(ABCB11):c.2964C>A (p.Ala988=) rs1465685111
NM_003742.4(ABCB11):c.297A>G (p.Glu99=)
NM_003742.4(ABCB11):c.2991T>C (p.Ser997=)
NM_003742.4(ABCB11):c.2991T>G (p.Ser997=)
NM_003742.4(ABCB11):c.2999A>G (p.Tyr1000Cys)
NM_003742.4(ABCB11):c.3009A>G (p.Gly1003=)
NM_003742.4(ABCB11):c.3010G>C (p.Gly1004Arg) rs761177506
NM_003742.4(ABCB11):c.3011G>A (p.Gly1004Asp)
NM_003742.4(ABCB11):c.3015C>T (p.Tyr1005=)
NM_003742.4(ABCB11):c.3033G>A (p.Gly1011=) rs749498678
NM_003742.4(ABCB11):c.3036C>T (p.Leu1012=)
NM_003742.4(ABCB11):c.3048T>C (p.Tyr1016=) rs777838984
NM_003742.4(ABCB11):c.3056+13T>C
NM_003742.4(ABCB11):c.3056+19A>T
NM_003742.4(ABCB11):c.3056+1G>A rs1243952083
NM_003742.4(ABCB11):c.3056+20G>A
NM_003742.4(ABCB11):c.3056+8A>T rs1691758686
NM_003742.4(ABCB11):c.3057-11T>C
NM_003742.4(ABCB11):c.3057-12G>T
NM_003742.4(ABCB11):c.3057-13T>C
NM_003742.4(ABCB11):c.3057-14C>T
NM_003742.4(ABCB11):c.3057-15T>C
NM_003742.4(ABCB11):c.3057-18G>A
NM_003742.4(ABCB11):c.3057-20G>A
NM_003742.4(ABCB11):c.3057-20GT[2]
NM_003742.4(ABCB11):c.3057-4A>G
NM_003742.4(ABCB11):c.3057-7G>T
NM_003742.4(ABCB11):c.3066T>A (p.Ser1022=) rs374539264
NM_003742.4(ABCB11):c.3072T>C (p.Val1024=) rs578099197
NM_003742.4(ABCB11):c.3077T>G (p.Leu1026Arg) rs1559180842
NM_003742.4(ABCB11):c.3081T>A (p.Ser1027Arg)
NM_003742.4(ABCB11):c.3081T>C (p.Ser1027=) rs1356859208
NM_003742.4(ABCB11):c.3084A>T (p.Ala1028=)
NM_003742.4(ABCB11):c.3087A>G (p.Thr1029=)
NM_003742.4(ABCB11):c.3090T>C (p.Ala1030=)
NM_003742.4(ABCB11):c.3094G>C (p.Gly1032Arg) rs2105891596
NM_003742.4(ABCB11):c.3096A>G (p.Gly1032=) rs2105891590
NM_003742.4(ABCB11):c.309A>G (p.Pro103=)
NM_003742.4(ABCB11):c.3117A>G (p.Pro1039=)
NM_003742.4(ABCB11):c.3123T>C (p.Tyr1041=) rs766964042
NM_003742.4(ABCB11):c.3126A>G (p.Ala1042=)
NM_003742.4(ABCB11):c.3130G>C (p.Ala1044Pro) rs926040478
NM_003742.4(ABCB11):c.3141A>C (p.Ser1047=) rs1222484954
NM_003742.4(ABCB11):c.3141A>G (p.Ser1047=) rs1222484954
NM_003742.4(ABCB11):c.3145G>A (p.Ala1049Thr) rs1559180694
NM_003742.4(ABCB11):c.3147A>G (p.Ala1049=) rs2105891438
NM_003742.4(ABCB11):c.3156T>C (p.Phe1052=)
NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro) rs747153406
NM_003742.4(ABCB11):c.3171A>T (p.Arg1057=)
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs) rs2105891349
NM_003742.4(ABCB11):c.3175_3176insTGCTGGA (p.Pro1059fs)
NM_003742.4(ABCB11):c.3177C>A (p.Pro1059=)
NM_003742.4(ABCB11):c.3189A>T (p.Val1063=)
NM_003742.4(ABCB11):c.318A>G (p.Ala106=)
NM_003742.4(ABCB11):c.319T>C (p.Cys107Arg)
NM_003742.4(ABCB11):c.3210del (p.Lys1070fs) rs2105891209
NM_003742.4(ABCB11):c.3212G>C (p.Trp1071Ser)
NM_003742.4(ABCB11):c.3213+11G>A
NM_003742.4(ABCB11):c.3213+16C>T
NM_003742.4(ABCB11):c.3213+18A>C
NM_003742.4(ABCB11):c.3213+18A>G
NM_003742.4(ABCB11):c.3213+19T>C
NM_003742.4(ABCB11):c.3213+19T>G
NM_003742.4(ABCB11):c.3213+1del rs1553546495
NM_003742.4(ABCB11):c.3213+7G>A
NM_003742.4(ABCB11):c.3213+8T>A rs1360097270
NM_003742.4(ABCB11):c.3214-10C>G rs2105888909
NM_003742.4(ABCB11):c.3214-11C>A
NM_003742.4(ABCB11):c.3214-14C>A
NM_003742.4(ABCB11):c.3214-14C>G
NM_003742.4(ABCB11):c.3214-15T>C
NM_003742.4(ABCB11):c.3214-17G>A
NM_003742.4(ABCB11):c.3214-19T>C
NM_003742.4(ABCB11):c.3214-4A>G
NM_003742.4(ABCB11):c.3214-7T>C rs377593604
NM_003742.4(ABCB11):c.3214-8A>G rs1428729122
NM_003742.4(ABCB11):c.3214-8A>T
NM_003742.4(ABCB11):c.3215_3219delinsGA (p.Asp1072_Asn1073delinsGly) rs1559179410
NM_003742.4(ABCB11):c.3222C>T (p.Phe1074=) rs2105888866
NM_003742.4(ABCB11):c.3225G>A (p.Gln1075=) rs2105888853
NM_003742.4(ABCB11):c.3240del (p.Phe1080fs) rs1553545923
NM_003742.4(ABCB11):c.3248G>A (p.Cys1083Tyr) rs1559179342
NM_003742.4(ABCB11):c.324G>A (p.Val108=)
NM_003742.4(ABCB11):c.3272del (p.Pro1091fs)
NM_003742.4(ABCB11):c.3273T>C (p.Pro1091=)
NM_003742.4(ABCB11):c.3277T>C (p.Ser1093Pro)
NM_003742.4(ABCB11):c.3278C>T (p.Ser1093Leu)
NM_003742.4(ABCB11):c.3279G>T (p.Ser1093=)
NM_003742.4(ABCB11):c.3288G>C (p.Leu1096=) rs1691535061
NM_003742.4(ABCB11):c.3297C>G (p.Leu1099=)
NM_003742.4(ABCB11):c.3297C>T (p.Leu1099=) rs1691534640
NM_003742.4(ABCB11):c.3300A>C (p.Ser1100=) rs767636463
NM_003742.4(ABCB11):c.3300A>G (p.Ser1100=) rs767636463
NM_003742.4(ABCB11):c.3305C>G (p.Ser1102Trp) rs762737233
NM_003742.4(ABCB11):c.3306G>A (p.Ser1102=) rs377691925
NM_003742.4(ABCB11):c.3306G>C (p.Ser1102=)
NM_003742.4(ABCB11):c.3312T>C (p.Ser1104=) rs2105888583
NM_003742.4(ABCB11):c.3324A>C (p.Thr1108=)
NM_003742.4(ABCB11):c.333C>G (p.Thr111=) rs1447908556
NM_003742.4(ABCB11):c.3342C>T (p.Ser1114=)
NM_003742.4(ABCB11):c.3348A>T (p.Gly1116=)
NM_003742.4(ABCB11):c.334A>G (p.Ile112Val)
NM_003742.4(ABCB11):c.3350G>A (p.Cys1117Tyr) rs754048936
NM_003742.4(ABCB11):c.3357A>G (p.Lys1119=)
NM_003742.4(ABCB11):c.3359G>T (p.Ser1120Ile)
NM_003742.4(ABCB11):c.335T>C (p.Ile112Thr)
NM_003742.4(ABCB11):c.3363_3391del (p.Ser1122_Ile1123insTer)
NM_003742.4(ABCB11):c.3369T>C (p.Ile1123=)
NM_003742.4(ABCB11):c.336T>C (p.Ile112=)
NM_003742.4(ABCB11):c.3372G>A (p.Gln1124=)
NM_003742.4(ABCB11):c.3373C>T (p.Leu1125=) rs1691529737
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys) rs764581483
NM_003742.4(ABCB11):c.3384T>G (p.Arg1128=)
NM_003742.4(ABCB11):c.3386T>C (p.Phe1129Ser)
NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter) rs2105888359
NM_003742.4(ABCB11):c.3401_3402insTAGAAGGTGGTAAGCCTTCTATGATCCTGATCA (p.Gln1134delinsHisArgArgTrpTer) rs2105888351
NM_003742.4(ABCB11):c.3404G>A (p.Gly1135Glu) rs1559179021
NM_003742.4(ABCB11):c.3405G>C (p.Gly1135=) rs2105888329
NM_003742.4(ABCB11):c.3411+12A>G
NM_003742.4(ABCB11):c.3411+13A>G
NM_003742.4(ABCB11):c.3411+14C>A
NM_003742.4(ABCB11):c.3411+14C>G
NM_003742.4(ABCB11):c.3411+20T>C
NM_003742.4(ABCB11):c.3411+20T>G
NM_003742.4(ABCB11):c.3411+9C>A rs201287126
NM_003742.4(ABCB11):c.3411+9C>G rs201287126
NM_003742.4(ABCB11):c.3412-15C>G
NM_003742.4(ABCB11):c.3412-1G>A rs1691365745
NM_003742.4(ABCB11):c.3412-8A>T
NM_003742.4(ABCB11):c.3420T>C (p.Asp1140=) rs1691365241
NM_003742.4(ABCB11):c.3423T>A (p.Gly1141=)
NM_003742.4(ABCB11):c.3423T>C (p.Gly1141=)
NM_003742.4(ABCB11):c.3429C>G (p.Asp1143Glu)
NM_003742.4(ABCB11):c.3438del (p.Lys1146_Val1147insTer)
NM_003742.4(ABCB11):c.3441A>G (p.Val1147=)
NM_003742.4(ABCB11):c.3448C>T (p.Gln1150Ter)
NM_003742.4(ABCB11):c.3457C>G (p.Arg1153Gly) rs72549395
NM_003742.4(ABCB11):c.3459C>T (p.Arg1153=)
NM_003742.4(ABCB11):c.345_346insTG (p.Asn116Ter)
NM_003742.4(ABCB11):c.3460T>C (p.Ser1154Pro)
NM_003742.4(ABCB11):c.3476T>C (p.Val1159Ala) rs1559176523
NM_003742.4(ABCB11):c.3487C>A (p.Pro1163Thr)
NM_003742.4(ABCB11):c.3489A>C (p.Pro1163=)
NM_003742.4(ABCB11):c.3489A>G (p.Pro1163=) rs748499277
NM_003742.4(ABCB11):c.3491del (p.Val1164fs) rs755647308
NM_003742.4(ABCB11):c.3495G>T (p.Leu1165Phe)
NM_003742.4(ABCB11):c.3517A>G (p.Asn1173Asp) rs764069770
NM_003742.4(ABCB11):c.351T>C (p.Ser117=)
NM_003742.4(ABCB11):c.3528T>C (p.Tyr1176=) rs1691357403
NM_003742.4(ABCB11):c.3537C>T (p.Asn1179=)
NM_003742.4(ABCB11):c.3552C>T (p.Pro1184=)
NM_003742.4(ABCB11):c.3558A>G (p.Glu1186=)
NM_003742.4(ABCB11):c.3564C>G (p.Val1188=) rs1574394077
NM_003742.4(ABCB11):c.3569C>A (p.Ala1190Glu)
NM_003742.4(ABCB11):c.3570A>G (p.Ala1190=) rs1574394033
NM_003742.4(ABCB11):c.3570A>T (p.Ala1190=)
NM_003742.4(ABCB11):c.3572C>A (p.Ala1191Asp) rs1559176334
NM_003742.4(ABCB11):c.3573T>A (p.Ala1191=)
NM_003742.4(ABCB11):c.3585T>C (p.Ala1195=) rs2105881941
NM_003742.4(ABCB11):c.3589C>T (p.Leu1197=)
NM_003742.4(ABCB11):c.3591G>A (p.Leu1197=)
NM_003742.4(ABCB11):c.3597T>C (p.Asp1199=)
NM_003742.4(ABCB11):c.360C>T (p.Asn120=) rs2106047580
NM_003742.4(ABCB11):c.3618+15A>G
NM_003742.4(ABCB11):c.3618+8C>G
NM_003742.4(ABCB11):c.3619-10T>A rs1559174582
NM_003742.4(ABCB11):c.3619-10T>C rs1559174582
NM_003742.4(ABCB11):c.3619-11del
NM_003742.4(ABCB11):c.3619-12A>C
NM_003742.4(ABCB11):c.3619-12del
NM_003742.4(ABCB11):c.3619-13T>C
NM_003742.4(ABCB11):c.3619-14A>C
NM_003742.4(ABCB11):c.3619-16T>C
NM_003742.4(ABCB11):c.3619-17A>G
NM_003742.4(ABCB11):c.3619-20C>T
NM_003742.4(ABCB11):c.3619-4del rs1574390273
NM_003742.4(ABCB11):c.3619-4dup
NM_003742.4(ABCB11):c.3619-7T>C
NM_003742.4(ABCB11):c.3619-9T>C rs751436200
NM_003742.4(ABCB11):c.361C>A (p.Gln121Lys)
NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)
NM_003742.4(ABCB11):c.3624T>C (p.Tyr1208=) rs959196154
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro) rs1691232631
NM_003742.4(ABCB11):c.3631A>G (p.Asn1211Asp)
NM_003742.4(ABCB11):c.3634G>T (p.Val1212Phe)
NM_003742.4(ABCB11):c.3636del (p.Ser1214fs) rs2105876276
NM_003742.4(ABCB11):c.364A>G (p.Asn122Asp)
NM_003742.4(ABCB11):c.3659_3660del (p.Leu1219_Ser1220insTer) rs1691231110
NM_003742.4(ABCB11):c.3660T>C (p.Ser1220=)
NM_003742.4(ABCB11):c.3666G>T (p.Gly1222=)
NM_003742.4(ABCB11):c.3669G>A (p.Glu1223=) rs199649780
NM_003742.4(ABCB11):c.368T>C (p.Met123Thr)
NM_003742.4(ABCB11):c.3691C>G (p.Arg1231Gly)
NM_003742.4(ABCB11):c.3693G>T (p.Arg1231=)
NM_003742.4(ABCB11):c.3699T>C (p.Ile1233=)
NM_003742.4(ABCB11):c.3722T>C (p.Leu1241Pro) rs1064797269
NM_003742.4(ABCB11):c.372A>T (p.Thr124=) rs2106047515
NM_003742.4(ABCB11):c.3732A>G (p.Glu1244=) rs1691226181
NM_003742.4(ABCB11):c.3735C>T (p.Ala1245=) rs1254378779
NM_003742.4(ABCB11):c.3745T>C (p.Leu1249=)
NM_003742.4(ABCB11):c.375T>C (p.Asn125=)
NM_003742.4(ABCB11):c.3765+11A>T
NM_003742.4(ABCB11):c.3765+16C>G
NM_003742.4(ABCB11):c.3765+18A>G
NM_003742.4(ABCB11):c.3765+6_3765+15dup
NM_003742.4(ABCB11):c.3765+8T>C rs1691224765
NM_003742.4(ABCB11):c.3766-11T>C
NM_003742.4(ABCB11):c.3766-15A>C
NM_003742.4(ABCB11):c.3766-15A>T
NM_003742.4(ABCB11):c.3766-17C>G
NM_003742.4(ABCB11):c.3766-18T>C
NM_003742.4(ABCB11):c.3766-34A>G rs579275
NM_003742.4(ABCB11):c.3766-4G>A rs575836219
NM_003742.4(ABCB11):c.3766-8C>T
NM_003742.4(ABCB11):c.3767C>G (p.Thr1256Arg) rs763244136
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs) rs387907317
NM_003742.4(ABCB11):c.3777del (p.Ala1260fs)
NM_003742.4(ABCB11):c.3778G>C (p.Ala1260Pro) rs772097949
NM_003742.4(ABCB11):c.3782T>C (p.Leu1261Pro) rs1559173607
NM_003742.4(ABCB11):c.3787A>T (p.Lys1263Ter)
NM_003742.4(ABCB11):c.3792C>T (p.Ala1264=)
NM_003742.4(ABCB11):c.3798G>A (p.Glu1266=) rs1343228486
NM_003742.4(ABCB11):c.379del (p.Thr127fs) rs1558927163
NM_003742.4(ABCB11):c.3800G>A (p.Gly1267Asp)
NM_003742.4(ABCB11):c.3802C>A (p.Arg1268=) rs555881834
NM_003742.4(ABCB11):c.3802C>T (p.Arg1268Trp) rs555881834
NM_003742.4(ABCB11):c.3804G>A (p.Arg1268=)
NM_003742.4(ABCB11):c.3804del (p.Thr1269fs) rs1231877314
NM_003742.4(ABCB11):c.3807C>T (p.Thr1269=)
NM_003742.4(ABCB11):c.3810C>T (p.Cys1270=)
NM_003742.4(ABCB11):c.3817A>G (p.Ile1273Val) rs756792557
NM_003742.4(ABCB11):c.3826C>T (p.Arg1276Cys)
NM_003742.4(ABCB11):c.3828C>T (p.Arg1276=) rs2105873738
NM_003742.4(ABCB11):c.3834C>T (p.Ser1278=) rs1374522673
NM_003742.4(ABCB11):c.3840C>T (p.Ile1280=)
NM_003742.4(ABCB11):c.3847G>A (p.Ala1283Thr)
NM_003742.4(ABCB11):c.384T>C (p.Arg128=)
NM_003742.4(ABCB11):c.3858T>C (p.Ile1286=)
NM_003742.4(ABCB11):c.3864C>T (p.Val1288=) rs1691174446
NM_003742.4(ABCB11):c.3873G>A (p.Gln1291=)
NM_003742.4(ABCB11):c.3875G>T (p.Gly1292Val) rs1553543921
NM_003742.4(ABCB11):c.3876G>A (p.Gly1292=)
NM_003742.4(ABCB11):c.3880del (p.Val1293_Val1294insTer)
NM_003742.4(ABCB11):c.3888A>G (p.Glu1296=)
NM_003742.4(ABCB11):c.389+16T>G
NM_003742.4(ABCB11):c.389+5G>T rs1553472773
NM_003742.4(ABCB11):c.3890dup (p.Thr1299fs)
NM_003742.4(ABCB11):c.390-12C>G
NM_003742.4(ABCB11):c.390-18C>A
NM_003742.4(ABCB11):c.390-1G>T rs1558917090
NM_003742.4(ABCB11):c.390-6_390-5del
NM_003742.4(ABCB11):c.390-83del rs66536812
NM_003742.4(ABCB11):c.3903A>G (p.Glu1301=) rs1282380584
NM_003742.4(ABCB11):c.3904G>T (p.Glu1302Ter) rs1691171678
NM_003742.4(ABCB11):c.390G>T (p.Gly130=)
NM_003742.4(ABCB11):c.3914C>A (p.Ala1305Asp)
NM_003742.4(ABCB11):c.3915C>G (p.Ala1305=)
NM_003742.4(ABCB11):c.3917A>G (p.Gln1306Arg)
NM_003742.4(ABCB11):c.391T>C (p.Leu131=)
NM_003742.4(ABCB11):c.3921A>G (p.Lys1307=) rs1691170109
NM_003742.4(ABCB11):c.3923del (p.Gly1308fs) rs1269456376
NM_003742.4(ABCB11):c.3927C>A (p.Ala1309=) rs2105873337
NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)
NM_003742.4(ABCB11):c.3945C>T (p.Thr1315=)
NM_003742.4(ABCB11):c.3945del (p.Thr1316fs) rs886043366
NM_003742.4(ABCB11):c.3947C>T (p.Thr1316Ile)
NM_003742.4(ABCB11):c.394C>T (p.Leu132=) rs1212884328
NM_003742.4(ABCB11):c.3951A>T (p.Gly1317=)
NM_003742.4(ABCB11):c.3954C>T (p.Ser1318=)
NM_003742.4(ABCB11):c.3962G>C (p.Ser1321Thr)
NM_003742.4(ABCB11):c.396G>T (p.Leu132=) rs2106016590
NM_003742.4(ABCB11):c.399C>T (p.Asn133=) rs537575091
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys) rs1026511416
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter) rs1026511416
NM_003742.4(ABCB11):c.415A>G (p.Ile139Val)
NM_003742.4(ABCB11):c.417C>A (p.Ile139=) rs1447571636
NM_003742.4(ABCB11):c.420A>G (p.Lys140=) rs2106016468
NM_003742.4(ABCB11):c.428G>A (p.Ser143Asn)
NM_003742.4(ABCB11):c.42A>G (p.Gly14=)
NM_003742.4(ABCB11):c.438T>A (p.Ala146=)
NM_003742.4(ABCB11):c.438T>C (p.Ala146=)
NM_003742.4(ABCB11):c.451G>A (p.Ala151Thr) rs776561679
NM_003742.4(ABCB11):c.45G>A (p.Glu15=) rs2106058438
NM_003742.4(ABCB11):c.468A>G (p.Gly156=)
NM_003742.4(ABCB11):c.471T>C (p.Tyr157=)
NM_003742.4(ABCB11):c.477+15C>T
NM_003742.4(ABCB11):c.477+18A>G
NM_003742.4(ABCB11):c.477+1G>A
NM_003742.4(ABCB11):c.477+5G>C rs1558916883
NM_003742.4(ABCB11):c.477+8G>C
NM_003742.4(ABCB11):c.477+8G>T rs745477056
NM_003742.4(ABCB11):c.477+9C>T rs778729951
NM_003742.4(ABCB11):c.478-12G>A
NM_003742.4(ABCB11):c.478-13T>C
NM_003742.4(ABCB11):c.478-9C>A
NM_003742.4(ABCB11):c.483C>A (p.Cys161Ter) rs777119489
NM_003742.4(ABCB11):c.492C>T (p.Val164=) rs2106014122
NM_003742.4(ABCB11):c.500C>T (p.Ala167Val) rs1553470309
NM_003742.4(ABCB11):c.503C>A (p.Ala168Asp) rs886044198
NM_003742.4(ABCB11):c.509A>G (p.Gln170Arg) rs1694682592
NM_003742.4(ABCB11):c.51T>C (p.Asn17=) rs2106058394
NM_003742.4(ABCB11):c.525A>G (p.Arg175=)
NM_003742.4(ABCB11):c.532del (p.Tyr178fs) rs2106013953
NM_003742.4(ABCB11):c.534C>T (p.Tyr178=) rs2106013937
NM_003742.4(ABCB11):c.554T>C (p.Met185Thr)
NM_003742.4(ABCB11):c.555G>A (p.Met185Ile) rs367704601
NM_003742.4(ABCB11):c.564G>A (p.Gly188=)
NM_003742.4(ABCB11):c.582A>T (p.Ser194=) rs766238406
NM_003742.4(ABCB11):c.585G>A (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.585G>C (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.585G>T (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.588G>A (p.Gly196=) rs548384140
NM_003742.4(ABCB11):c.595A>G (p.Asn199Asp) rs1411429927
NM_003742.4(ABCB11):c.597T>C (p.Asn199=)
NM_003742.4(ABCB11):c.603A>G (p.Arg201=)
NM_003742.4(ABCB11):c.611+11G>A
NM_003742.4(ABCB11):c.611+189C>G rs13432949
NM_003742.4(ABCB11):c.611+20G>A
NM_003742.4(ABCB11):c.611+7A>G rs957485339
NM_003742.4(ABCB11):c.611+8G>A rs1316685102
NM_003742.4(ABCB11):c.612-17A>C
NM_003742.4(ABCB11):c.612-17A>G
NM_003742.4(ABCB11):c.612-8G>T rs762823112
NM_003742.4(ABCB11):c.618T>C (p.Ile206=) rs764933943
NM_003742.4(ABCB11):c.625dup (p.Ile209fs) rs2106010917
NM_003742.4(ABCB11):c.635C>T (p.Ala212Val) rs1258787148
NM_003742.4(ABCB11):c.640G>A (p.Ala214Thr) rs1573953443
NM_003742.4(ABCB11):c.657T>C (p.Leu219=) rs2106010818
NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
NM_003742.4(ABCB11):c.664C>T (p.Gln222Ter) rs1292921760
NM_003742.4(ABCB11):c.66A>G (p.Ser22=)
NM_003742.4(ABCB11):c.674C>A (p.Thr225Asn) rs1553470064
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu) rs1382100120
NM_003742.4(ABCB11):c.678G>A (p.Ser226=)
NM_003742.4(ABCB11):c.695del (p.Leu232fs)
NM_003742.4(ABCB11):c.696G>A (p.Leu232=)
NM_003742.4(ABCB11):c.6T>C (p.Ser2=)
NM_003742.4(ABCB11):c.70A>G (p.Lys24Glu)
NM_003742.4(ABCB11):c.713G>C (p.Gly238Ala) rs72551306
NM_003742.4(ABCB11):c.732T>A (p.Val244=)
NM_003742.4(ABCB11):c.735T>C (p.Ile245=)
NM_003742.4(ABCB11):c.74C>A (p.Ser25Ter)
NM_003742.4(ABCB11):c.757G>A (p.Gly253Arg) rs886044711
NM_003742.4(ABCB11):c.76+15del
NM_003742.4(ABCB11):c.76+18C>A
NM_003742.4(ABCB11):c.76+20C>T
NM_003742.4(ABCB11):c.76+2T>G
NM_003742.4(ABCB11):c.76+7G>C rs2106058207
NM_003742.4(ABCB11):c.76+9C>T
NM_003742.4(ABCB11):c.76+9del
NM_003742.4(ABCB11):c.77-10T>C
NM_003742.4(ABCB11):c.77-16T>A
NM_003742.4(ABCB11):c.77-16_77-15dup rs746419453
NM_003742.4(ABCB11):c.77-16dup rs746419453
NM_003742.4(ABCB11):c.77-171GA[6] rs140755843
NM_003742.4(ABCB11):c.77-17A>G
NM_003742.4(ABCB11):c.77-20T>C
NM_003742.4(ABCB11):c.77-224GT[19] rs71397686
NM_003742.4(ABCB11):c.77-224GT[20] rs71397686
NM_003742.4(ABCB11):c.77-224GT[21] rs71397686
NM_003742.4(ABCB11):c.77-224GT[23] rs71397686
NM_003742.4(ABCB11):c.77-224GT[24] rs71397686
NM_003742.4(ABCB11):c.77-224GT[25] rs71397686
NM_003742.4(ABCB11):c.77-2A>G
NM_003742.4(ABCB11):c.77-330_77-329insGTCAGATCTTCTTCAGCTAATTTAGAAAT rs4148774
NM_003742.4(ABCB11):c.77-5G>A rs964058317
NM_003742.4(ABCB11):c.77-8del rs746419453
NM_003742.4(ABCB11):c.770C>T (p.Ala257Val) rs1553470037
NM_003742.4(ABCB11):c.774C>A (p.Thr258=) rs760009482
NM_003742.4(ABCB11):c.774C>T (p.Thr258=) rs760009482
NM_003742.4(ABCB11):c.783+13T>C
NM_003742.4(ABCB11):c.783+17G>C
NM_003742.4(ABCB11):c.783+17G>T
NM_003742.4(ABCB11):c.783+5G>A rs1553470031
NM_003742.4(ABCB11):c.783+8T>C rs1558914711
NM_003742.4(ABCB11):c.783+9G>A
NM_003742.4(ABCB11):c.783+9_783+10del
NM_003742.4(ABCB11):c.784-16T>C
NM_003742.4(ABCB11):c.784-177G>A
NM_003742.4(ABCB11):c.784-19T>C
NM_003742.4(ABCB11):c.784-1G>C
NM_003742.4(ABCB11):c.784-4T>G
NM_003742.4(ABCB11):c.784-7T>C
NM_003742.4(ABCB11):c.786T>C (p.Ser262=)
NM_003742.4(ABCB11):c.789G>C (p.Val263=) rs1694496909
NM_003742.4(ABCB11):c.793A>T (p.Lys265Ter) rs2106005174
NM_003742.4(ABCB11):c.795G>A (p.Lys265=) rs1694496566
NM_003742.4(ABCB11):c.801G>C (p.Thr267=)
NM_003742.4(ABCB11):c.811C>T (p.Leu271=) rs1170842960
NM_003742.4(ABCB11):c.822T>C (p.Tyr274=) rs2106005033
NM_003742.4(ABCB11):c.830C>A (p.Ala277Glu) rs1558912790
NM_003742.4(ABCB11):c.833G>A (p.Gly278Glu) rs1253763035
NM_003742.4(ABCB11):c.835G>A (p.Val279Met) rs1205653279
NM_003742.4(ABCB11):c.837G>A (p.Val279=)
NM_003742.4(ABCB11):c.837G>C (p.Val279=) rs1485277592
NM_003742.4(ABCB11):c.840G>A (p.Val280=) rs2106004962
NM_003742.4(ABCB11):c.843del (p.Asp282fs) rs2106004956
NM_003742.4(ABCB11):c.847G>T (p.Glu283Ter) rs1558912774
NM_003742.4(ABCB11):c.852C>A (p.Val284=)
NM_003742.4(ABCB11):c.858A>G (p.Ser286=) rs2106004888
NM_003742.4(ABCB11):c.85_87del (p.Asp29del) rs748922246
NM_003742.4(ABCB11):c.870A>C (p.Thr290=)
NM_003742.4(ABCB11):c.870A>T (p.Thr290=)
NM_003742.4(ABCB11):c.874G>T (p.Ala292Ser) rs1558912727
NM_003742.4(ABCB11):c.87T>C (p.Asp29=) rs2106055175
NM_003742.4(ABCB11):c.882T>C (p.Phe294=)
NM_003742.4(ABCB11):c.883G>C (p.Gly295Arg)
NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
NM_003742.4(ABCB11):c.891G>A (p.Glu297=)
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003742.4(ABCB11):c.896_897delinsTT (p.Arg299Ile) rs2106004734
NM_003742.4(ABCB11):c.906_907insTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGACCTCAAACAAATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGAGAGGTTGAA (p.Arg303delinsTrpGluLysIlePheAlaThrTyrSerSerAspLysGlyLeuIleSerArgIleTyrAsnAspLeuLysGlnXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysArgGlyTer) rs2106004684
NM_003742.4(ABCB11):c.907_908+9del rs2106004648
NM_003742.4(ABCB11):c.908+1G>C rs147649016
NM_003742.4(ABCB11):c.908+1G>T rs147649016
NM_003742.4(ABCB11):c.908+20A>G
NM_003742.4(ABCB11):c.908+5G>A rs1558912626
NM_003742.4(ABCB11):c.909-16C>T
NM_003742.4(ABCB11):c.909-20C>A
NM_003742.4(ABCB11):c.909-8C>G
NM_003742.4(ABCB11):c.912T>A (p.Tyr304Ter)
NM_003742.4(ABCB11):c.919_920del (p.Asn307fs)
NM_003742.4(ABCB11):c.922C>G (p.Leu308Val)
NM_003742.4(ABCB11):c.922C>T (p.Leu308Phe) rs780710769
NM_003742.4(ABCB11):c.933C>T (p.Ala311=) rs1694321163
NM_003742.4(ABCB11):c.934C>T (p.Gln312Ter)
NM_003742.4(ABCB11):c.936G>T (p.Gln312His) rs770497192
NM_003742.4(ABCB11):c.937C>T (p.Arg313Cys) rs375087680
NM_003742.4(ABCB11):c.938G>A (p.Arg313His)
NM_003742.4(ABCB11):c.939T>C (p.Arg313=) rs1694320454
NM_003742.4(ABCB11):c.948T>C (p.Ile316=)
NM_003742.4(ABCB11):c.951A>G (p.Arg317=)
NM_003742.4(ABCB11):c.954A>G (p.Lys318=)
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.969A>T (p.Gly323=)
NM_003742.4(ABCB11):c.978T>C (p.Thr326=)
NM_003742.4(ABCB11):c.98+15T>G
NM_003742.4(ABCB11):c.98+1G>A rs1695369774
NM_003742.4(ABCB11):c.98+20A>G
NM_003742.4(ABCB11):c.98+5G>T rs2106055125
NM_003742.4(ABCB11):c.98+7G>T rs1167731334
NM_003742.4(ABCB11):c.99-15T>C
NM_003742.4(ABCB11):c.99-16A>C
NM_003742.4(ABCB11):c.99-5_99-4del
NM_003742.4(ABCB11):c.99-6C>T
NM_003742.4(ABCB11):c.9C>T (p.Asp3=)

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