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.80+114G>C
|
rs45619531
|
0.00796
|
NM_000443.4(ABCB4):c.1732-39A>G
|
rs141424866
|
0.00781
|
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.1893+6T>C
|
rs8187798
|
0.00175
|
NM_000443.4(ABCB4):c.712C>G (p.Leu238Val)
|
rs45596335
|
0.00155
|
NM_000443.4(ABCB4):c.2394+13G>A
|
rs370406753
|
0.00058
|
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.3111T>C (p.Asn1037=)
|
rs8187808
|
0.00019
|
NM_000443.4(ABCB4):c.366A>G (p.Gly122=)
|
rs113445400
|
0.00016
|
NM_000443.4(ABCB4):c.927T>C (p.Tyr309=)
|
rs199504845
|
0.00016
|
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met)
|
rs776616540
|
0.00011
|
NM_000443.4(ABCB4):c.3336C>T (p.Leu1112=)
|
rs756982751
|
0.00009
|
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=)
|
rs368458295
|
0.00008
|
NM_000443.4(ABCB4):c.2340C>T (p.Gly780=)
|
rs148865252
|
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.438C>T (p.Ile146=)
|
rs776179529
|
0.00005
|
NM_000443.4(ABCB4):c.1356+10A>G
|
rs374723850
|
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.525G>A (p.Thr175=)
|
rs558416191
|
0.00003
|
NM_000443.4(ABCB4):c.201C>T (p.His67=)
|
rs747703354
|
0.00002
|
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=)
|
rs1461886025
|
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.717G>A (p.Ser239=)
|
rs770169131
|
0.00002
|
NM_000443.4(ABCB4):c.1119+8A>C
|
rs1471180323
|
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.1560+16A>G
|
rs769175596
|
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.2055C>T (p.Thr685=)
|
rs747255117
|
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.2730C>T (p.Thr910=)
|
rs978222245
|
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.3258C>T (p.Tyr1086=)
|
rs1435564748
|
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.807C>T (p.Phe269=)
|
rs1421517860
|
0.00001
|
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.1006-6del
|
|
|
NM_000443.4(ABCB4):c.1029A>G (p.Gly343=)
|
|
|
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+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.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.1230+18T>A
|
|
|
NM_000443.4(ABCB4):c.1230+18T>C
|
|
|
NM_000443.4(ABCB4):c.1230+7dup
|
|
|
NM_000443.4(ABCB4):c.1231-13A>G
|
|
|
NM_000443.4(ABCB4):c.1231-6T>A
|
|
|
NM_000443.4(ABCB4):c.1234T>C (p.Leu412=)
|
|
|
NM_000443.4(ABCB4):c.1272G>A (p.Thr424=)
|
|
|
NM_000443.4(ABCB4):c.1281G>A (p.Leu427=)
|
|
|
NM_000443.4(ABCB4):c.1302G>A (p.Gly434=)
|
|
|
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.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.1377T>C (p.Asp459=)
|
|
|
NM_000443.4(ABCB4):c.1392T>C (p.Asn464=)
|
|
|
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=)
|
rs771303478
|
|
NM_000443.4(ABCB4):c.1437G>A (p.Pro479=)
|
|
|
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.1491A>G (p.Val497=)
|
|
|
NM_000443.4(ABCB4):c.1530C>T (p.Asn510=)
|
|
|
NM_000443.4(ABCB4):c.1533C>G (p.Ala511=)
|
|
|
NM_000443.4(ABCB4):c.1560+11del
|
|
|
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.1614G>A (p.Lys538=)
|
|
|
NM_000443.4(ABCB4):c.1623C>T (p.Ile541=)
|
|
|
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.1677C>T (p.Ala559=)
|
|
|
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.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.1779G>A (p.Thr593=)
|
|
|
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.1833A>G (p.Gln611=)
|
|
|
NM_000443.4(ABCB4):c.1845C>T (p.Ser615=)
|
|
|
NM_000443.4(ABCB4):c.1849C>T (p.Leu617=)
|
|
|
NM_000443.4(ABCB4):c.1866G>C (p.Gly622=)
|
|
|
NM_000443.4(ABCB4):c.1869G>A (p.Val623=)
|
|
|
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.1894-10A>G
|
|
|
NM_000443.4(ABCB4):c.1894-8T>C
|
|
|
NM_000443.4(ABCB4):c.1894-9T>C
|
|
|
NM_000443.4(ABCB4):c.1896A>T (p.Thr632=)
|
|
|
NM_000443.4(ABCB4):c.1950C>T (p.Ala650=)
|
|
|
NM_000443.4(ABCB4):c.1953T>C (p.Thr651=)
|
|
|
NM_000443.4(ABCB4):c.2058T>C (p.Asp686=)
|
|
|
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.2065-4C>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.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.2118A>C (p.Thr706=)
|
|
|
NM_000443.4(ABCB4):c.2136C>T (p.Val712=)
|
|
|
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.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.2226C>T (p.Gly742=)
|
|
|
NM_000443.4(ABCB4):c.2232T>C (p.Asp744=)
|
|
|
NM_000443.4(ABCB4):c.2244G>A (p.Gln748=)
|
|
|
NM_000443.4(ABCB4):c.2274C>T (p.Phe758=)
|
|
|
NM_000443.4(ABCB4):c.2281C>T (p.Leu761=)
|
|
|
NM_000443.4(ABCB4):c.2316+12T>C
|
|
|
NM_000443.4(ABCB4):c.2316+14A>T
|
|
|
NM_000443.4(ABCB4):c.2316+20C>T
|
|
|
NM_000443.4(ABCB4):c.2317-16C>T
|
|
|
NM_000443.4(ABCB4):c.2317-17C>T
|
|
|
NM_000443.4(ABCB4):c.2317-9C>G
|
|
|
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=)
|
rs8187802
|
|
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.2394+12C>T
|
|
|
NM_000443.4(ABCB4):c.2395-18G>A
|
|
|
NM_000443.4(ABCB4):c.2395-18G>T
|
|
|
NM_000443.4(ABCB4):c.2430T>G (p.Thr810=)
|
|
|
NM_000443.4(ABCB4):c.2436A>G (p.Ala812=)
|
|
|
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.2484A>G (p.Thr828=)
|
|
|
NM_000443.4(ABCB4):c.2494T>C (p.Leu832=)
|
|
|
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.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.2694G>A (p.Glu898=)
|
|
|
NM_000443.4(ABCB4):c.2712G>A (p.Arg904=)
|
|
|
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
|
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|
NM_000443.4(ABCB4):c.2783+9C>A
|
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NM_000443.4(ABCB4):c.2784-16C>T
|
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NM_000443.4(ABCB4):c.2784-20T>C
|
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NM_000443.4(ABCB4):c.2787T>C (p.Asn929=)
|
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NM_000443.4(ABCB4):c.279C>T (p.Ser93=)
|
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NM_000443.4(ABCB4):c.2805C>T (p.His935=)
|
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NM_000443.4(ABCB4):c.2823T>C (p.Phe941=)
|
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NM_000443.4(ABCB4):c.2853C>G (p.Ser951=)
|
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|
NM_000443.4(ABCB4):c.2859C>T (p.Ala953=)
|
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|
NM_000443.4(ABCB4):c.286+11C>A
|
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NM_000443.4(ABCB4):c.286+12T>C
|
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NM_000443.4(ABCB4):c.291C>T (p.Asn97=)
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NM_000443.4(ABCB4):c.2924+16A>C
|
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NM_000443.4(ABCB4):c.2924+18T>G
|
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NM_000443.4(ABCB4):c.2924+8G>A
|
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NM_000443.4(ABCB4):c.2925-11C>T
|
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NM_000443.4(ABCB4):c.2925-17C>A
|
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NM_000443.4(ABCB4):c.2925-4C>A
|
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NM_000443.4(ABCB4):c.2925-4C>G
|
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NM_000443.4(ABCB4):c.2925-8C>T
|
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NM_000443.4(ABCB4):c.2952A>C (p.Ala984=)
|
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NM_000443.4(ABCB4):c.2959C>T (p.Leu987=)
|
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NM_000443.4(ABCB4):c.2961A>G (p.Leu987=)
|
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NM_000443.4(ABCB4):c.2967T>C (p.His989=)
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NM_000443.4(ABCB4):c.297C>T (p.Ser99=)
|
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NM_000443.4(ABCB4):c.2985A>C (p.Pro995=)
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NM_000443.4(ABCB4):c.2994T>C (p.Ala998=)
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NM_000443.4(ABCB4):c.3019T>C (p.Leu1007=)
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NM_000443.4(ABCB4):c.3024C>T (p.Phe1008=)
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NM_000443.4(ABCB4):c.303G>A (p.Ser101=)
|
rs886044650
|
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NM_000443.4(ABCB4):c.3063T>C (p.Ser1021=)
|
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NM_000443.4(ABCB4):c.3081+14T>C
|
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NM_000443.4(ABCB4):c.3081+7T>C
|
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NM_000443.4(ABCB4):c.3082-10A>G
|
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NM_000443.4(ABCB4):c.3082-179C>G
|
rs45526441
|
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NM_000443.4(ABCB4):c.3082-5T>C
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NM_000443.4(ABCB4):c.3090T>C (p.Phe1030=)
|
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NM_000443.4(ABCB4):c.309A>G (p.Leu103=)
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NM_000443.4(ABCB4):c.3117C>T (p.Val1039=)
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NM_000443.4(ABCB4):c.3135C>A (p.Thr1045=)
|
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|
NM_000443.4(ABCB4):c.3141A>T (p.Ala1047=)
|
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|
NM_000443.4(ABCB4):c.3162G>A (p.Gly1054=)
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|
NM_000443.4(ABCB4):c.3172G>A (p.Glu1058Lys)
|
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|
NM_000443.4(ABCB4):c.3174G>A (p.Glu1058=)
|
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NM_000443.4(ABCB4):c.3186C>T (p.Gly1062=)
|
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|
NM_000443.4(ABCB4):c.3193C>T (p.Leu1065=)
|
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|
NM_000443.4(ABCB4):c.3207C>T (p.Gly1069=)
|
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|
NM_000443.4(ABCB4):c.3210C>T (p.Ser1070=)
|
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|
NM_000443.4(ABCB4):c.3213T>C (p.Ser1071=)
|
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|
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=)
|
rs1562950567
|
|
NM_000443.4(ABCB4):c.325C>T (p.Leu109=)
|
|
|
NM_000443.4(ABCB4):c.3270G>A (p.Ala1090=)
|
|
|
NM_000443.4(ABCB4):c.3273G>A (p.Gly1091=)
|
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|
NM_000443.4(ABCB4):c.3276A>G (p.Thr1092=)
|
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|
NM_000443.4(ABCB4):c.3279+13C>A
|
|
|
NM_000443.4(ABCB4):c.3279+16T>C
|
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|
NM_000443.4(ABCB4):c.3309C>A (p.Leu1103=)
|
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|
NM_000443.4(ABCB4):c.3315C>T (p.Val1105=)
|
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|
NM_000443.4(ABCB4):c.3342C>T (p.Ile1114=)
|
|
|
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.344+11T>C
|
|
|
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.345-5T>G
|
|
|
NM_000443.4(ABCB4):c.345-65GAAAA[3]
|
rs199500302
|
|
NM_000443.4(ABCB4):c.345-6T>C
|
|
|
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.3492T>C (p.Tyr1164=)
|
|
|
NM_000443.4(ABCB4):c.3504G>A (p.Val1168=)
|
rs1807938184
|
|
NM_000443.4(ABCB4):c.354T>C (p.Tyr118=)
|
|
|
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.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.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.3705C>T (p.Thr1235=)
|
|
|
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.3816C>T (p.Val1272=)
|
rs1029350022
|
|
NM_000443.4(ABCB4):c.396T>C (p.Tyr132=)
|
|
|
NM_000443.4(ABCB4):c.411T>C (p.Phe137=)
|
|
|
NM_000443.4(ABCB4):c.429T>C (p.Gly143=)
|
|
|
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.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.603G>A (p.Thr201=)
|
|
|
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.741T>C (p.Ala247=)
|
|
|
NM_000443.4(ABCB4):c.747T>C (p.Tyr249=)
|
|
|
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.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.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+20T>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.81-13C>G
|
|
|
NM_000443.4(ABCB4):c.81-16A>C
|
|
|
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+7A>G
|
|
|
NM_000443.4(ABCB4):c.834-8T>A
|
|
|
NM_000443.4(ABCB4):c.849A>G (p.Leu283=)
|
|
|
NM_000443.4(ABCB4):c.879A>G (p.Lys293=)
|
|
|
NM_000443.4(ABCB4):c.906T>C (p.Gly302=)
|
|
|
NM_000443.4(ABCB4):c.930A>G (p.Ala310=)
|
|
|
NM_000443.4(ABCB4):c.945C>G (p.Ala315=)
|
|
|
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.987T>C (p.Thr329=)
|
|
|