ClinVar Miner

List of variants in gene ABCB4 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 752
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HGVS dbSNP gnomAD frequency
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=)

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