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.890A>G (p.Glu297Gly)
|
rs11568372
|
0.00011
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys)
|
rs72549395
|
0.00004
|
NM_003742.4(ABCB11):c.1708G>A (p.Ala570Thr)
|
rs886043807
|
0.00003
|
NM_003742.4(ABCB11):c.2296G>A (p.Gly766Arg)
|
rs763782349
|
0.00003
|
NM_003742.4(ABCB11):c.698T>C (p.Leu233Ser)
|
rs758339239
|
0.00003
|
NM_003742.4(ABCB11):c.908+1G>A
|
rs147649016
|
0.00003
|
NM_003742.4(ABCB11):c.154C>T (p.Arg52Trp)
|
rs763526610
|
0.00002
|
NM_003742.4(ABCB11):c.3268C>T (p.Arg1090Ter)
|
rs72549396
|
0.00002
|
NM_003742.4(ABCB11):c.3669G>C (p.Glu1223Asp)
|
rs199649780
|
0.00002
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_003742.4(ABCB11):c.3703C>T (p.Arg1235Ter)
|
rs866839234
|
0.00002
|
NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)
|
rs764125510
|
0.00001
|
NM_003742.4(ABCB11):c.1408C>T (p.Arg470Ter)
|
rs774824767
|
0.00001
|
NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)
|
rs369860506
|
0.00001
|
NM_003742.4(ABCB11):c.1445A>G (p.Asp482Gly)
|
rs72549402
|
0.00001
|
NM_003742.4(ABCB11):c.1493T>C (p.Ile498Thr)
|
rs752043324
|
0.00001
|
NM_003742.4(ABCB11):c.1550G>A (p.Arg517His)
|
rs760750012
|
0.00001
|
NM_003742.4(ABCB11):c.164C>A (p.Ser55Ter)
|
rs1447134419
|
0.00001
|
NM_003742.4(ABCB11):c.1763C>T (p.Ala588Val)
|
rs917981474
|
0.00001
|
NM_003742.4(ABCB11):c.2178+1G>A
|
rs1459273753
|
0.00001
|
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)
|
rs886043986
|
0.00001
|
NM_003742.4(ABCB11):c.2380C>T (p.Gln794Ter)
|
rs1060499579
|
0.00001
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
NM_003742.4(ABCB11):c.3148C>T (p.Arg1050Cys)
|
rs72549398
|
0.00001
|
NM_003742.4(ABCB11):c.3169C>T (p.Arg1057Ter)
|
rs72549397
|
0.00001
|
NM_003742.4(ABCB11):c.3383G>A (p.Arg1128His)
|
rs756220860
|
0.00001
|
NM_003742.4(ABCB11):c.3458G>A (p.Arg1153His)
|
rs748862206
|
0.00001
|
NM_003742.4(ABCB11):c.3692G>A (p.Arg1231Gln)
|
rs758069019
|
0.00001
|
NM_003742.4(ABCB11):c.3772C>T (p.Gln1258Ter)
|
rs769983873
|
0.00001
|
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)
|
rs752992432
|
0.00001
|
NM_003742.4(ABCB11):c.499G>A (p.Ala167Thr)
|
rs139641883
|
0.00001
|
NM_003742.4(ABCB11):c.611+1G>A
|
rs769134865
|
0.00001
|
GRCh37/hg19 2q31.1(chr2:169824976-169830328)
|
|
|
NC_000002.11:g.(?_169820706)_(169825010_?)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.1029C>G (p.Tyr343Ter)
|
|
|
NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
|
|
|
NM_003742.4(ABCB11):c.1069G>T (p.Gly357Ter)
|
rs886043935
|
|
NM_003742.4(ABCB11):c.1081C>T (p.Gln361Ter)
|
|
|
NM_003742.4(ABCB11):c.1146_1166del (p.Phe383_Ala389del)
|
rs1553468235
|
|
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
|
|
|
NM_003742.4(ABCB11):c.1198-1G>C
|
|
|
NM_003742.4(ABCB11):c.1243C>T (p.Arg415Ter)
|
rs913644236
|
|
NM_003742.4(ABCB11):c.1259T>C (p.Ile420Thr)
|
|
|
NM_003742.4(ABCB11):c.1271del (p.Asn424fs)
|
rs886043703
|
|
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr)
|
rs121908935
|
|
NM_003742.4(ABCB11):c.1354_1427del (p.Ala452fs)
|
rs1574453486
|
|
NM_003742.4(ABCB11):c.1381A>G (p.Lys461Glu)
|
|
|
NM_003742.4(ABCB11):c.1396C>T (p.Gln466Ter)
|
|
|
NM_003742.4(ABCB11):c.1405C>T (p.Gln469Ter)
|
rs2105967973
|
|
NM_003742.4(ABCB11):c.1409G>A (p.Arg470Gln)
|
rs1463057954
|
|
NM_003742.4(ABCB11):c.1416T>A (p.Tyr472Ter)
|
rs1558898789
|
|
NM_003742.4(ABCB11):c.1417_1418insTGATTCCTTC (p.Asp473fs)
|
rs1574453508
|
|
NM_003742.4(ABCB11):c.1422del (p.Cys475fs)
|
rs2105967878
|
|
NM_003742.4(ABCB11):c.1429G>T (p.Gly477Ter)
|
rs2105967839
|
|
NM_003742.4(ABCB11):c.1460G>C (p.Arg487Pro)
|
rs188824058
|
|
NM_003742.4(ABCB11):c.1487A>T (p.Asp496Val)
|
|
|
NM_003742.4(ABCB11):c.150+1G>A
|
rs886043875
|
|
NM_003742.4(ABCB11):c.150+3A>C
|
rs387906354
|
|
NM_003742.4(ABCB11):c.1552_1555dup (p.Gly519fs)
|
|
|
NM_003742.4(ABCB11):c.1621A>C (p.Ile541Leu)
|
rs979738325
|
|
NM_003742.4(ABCB11):c.1631del (p.Leu544fs)
|
rs1553466489
|
|
NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)
|
|
|
NM_003742.4(ABCB11):c.1654del (p.Val552fs)
|
rs1693519718
|
|
NM_003742.4(ABCB11):c.1672C>T (p.Gln558Ter)
|
|
|
NM_003742.4(ABCB11):c.167C>G (p.Ser56Ter)
|
rs11568361
|
|
NM_003742.4(ABCB11):c.1705dup (p.Ile569fs)
|
|
|
NM_003742.4(ABCB11):c.1756del (p.Thr586fs)
|
|
|
NM_003742.4(ABCB11):c.1760C>A (p.Ser587Ter)
|
|
|
NM_003742.4(ABCB11):c.1789dup (p.Val597fs)
|
|
|
NM_003742.4(ABCB11):c.179G>A (p.Trp60Ter)
|
|
|
NM_003742.4(ABCB11):c.1810-1G>A
|
rs1553466082
|
|
NM_003742.4(ABCB11):c.1826_1827dup (p.Ile610fs)
|
rs1693477912
|
|
NM_003742.4(ABCB11):c.1907A>T (p.Glu636Val)
|
|
|
NM_003742.4(ABCB11):c.1941del (p.Gly648fs)
|
rs1470131264
|
|
NM_003742.4(ABCB11):c.1948del (p.Tyr650fs)
|
rs1558894166
|
|
NM_003742.4(ABCB11):c.1966_1967del (p.Leu656fs)
|
rs1064797270
|
|
NM_003742.4(ABCB11):c.1979del (p.Gly660fs)
|
|
|
NM_003742.4(ABCB11):c.2012-2A>G
|
|
|
NM_003742.4(ABCB11):c.2062C>T (p.Gln688Ter)
|
|
|
NM_003742.4(ABCB11):c.2075+3A>G
|
|
|
NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
|
|
|
NM_003742.4(ABCB11):c.2178+1G>C
|
rs1459273753
|
|
NM_003742.4(ABCB11):c.2178+1G>T
|
|
|
NM_003742.4(ABCB11):c.2178+2T>C
|
rs1693198121
|
|
NM_003742.4(ABCB11):c.2256G>A (p.Trp752Ter)
|
rs1401892400
|
|
NM_003742.4(ABCB11):c.226C>T (p.Gln76Ter)
|
|
|
NM_003742.4(ABCB11):c.2316T>A (p.Tyr772Ter)
|
rs1371940395
|
|
NM_003742.4(ABCB11):c.2316T>G (p.Tyr772Ter)
|
|
|
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)
|
rs1692870573
|
|
NM_003742.4(ABCB11):c.2343+1G>T
|
rs774411820
|
|
NM_003742.4(ABCB11):c.2343+2T>C
|
rs2105934712
|
|
NM_003742.4(ABCB11):c.2349_2350del (p.Ser784fs)
|
|
|
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.2451del (p.Tyr818fs)
|
rs2105912644
|
|
NM_003742.4(ABCB11):c.2488del (p.Arg830fs)
|
rs756323541
|
|
NM_003742.4(ABCB11):c.2495G>A (p.Arg832His)
|
rs376255350
|
|
NM_003742.4(ABCB11):c.2495del (p.Arg832fs)
|
rs1574415738
|
|
NM_003742.4(ABCB11):c.2541del (p.Phe847fs)
|
rs1574415650
|
|
NM_003742.4(ABCB11):c.2542del (p.Asp848fs)
|
|
|
NM_003742.4(ABCB11):c.2561del (p.Pro854fs)
|
rs2105912281
|
|
NM_003742.4(ABCB11):c.262_263del (p.Asp88fs)
|
rs2106047848
|
|
NM_003742.4(ABCB11):c.279C>A (p.Tyr93Ter)
|
|
|
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.2T>C (p.Met1Thr)
|
|
|
NM_003742.4(ABCB11):c.3011G>A (p.Gly1004Asp)
|
|
|
NM_003742.4(ABCB11):c.307C>T (p.Pro103Ser)
|
|
|
NM_003742.4(ABCB11):c.3129_3130delinsT (p.Lys1043fs)
|
|
|
NM_003742.4(ABCB11):c.3164T>C (p.Leu1055Pro)
|
rs747153406
|
|
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs)
|
rs2105891349
|
|
NM_003742.4(ABCB11):c.3210del (p.Lys1070fs)
|
rs2105891209
|
|
NM_003742.4(ABCB11):c.3213+1del
|
rs1553546495
|
|
NM_003742.4(ABCB11):c.3272del (p.Pro1091fs)
|
|
|
NM_003742.4(ABCB11):c.3363_3391del (p.Ser1122_Ile1123insTer)
|
|
|
NM_003742.4(ABCB11):c.3379G>T (p.Glu1127Ter)
|
|
|
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)
|
rs764581483
|
|
NM_003742.4(ABCB11):c.3382C>T (p.Arg1128Cys)
|
rs764581483
|
|
NM_003742.4(ABCB11):c.3400C>T (p.Gln1134Ter)
|
rs2105888359
|
|
NM_003742.4(ABCB11):c.3401_3402insTAGAAGGTGGTAAGCCTTCTATGATCCTGATCA (p.Gln1134delinsHisArgArgTrpTer)
|
rs2105888351
|
|
NM_003742.4(ABCB11):c.3438del (p.Lys1146_Val1147insTer)
|
|
|
NM_003742.4(ABCB11):c.3448C>T (p.Gln1150Ter)
|
|
|
NM_003742.4(ABCB11):c.345_346insTG (p.Asn116Ter)
|
|
|
NM_003742.4(ABCB11):c.3460T>C (p.Ser1154Pro)
|
|
|
NM_003742.4(ABCB11):c.3491del (p.Val1164fs)
|
rs755647308
|
|
NM_003742.4(ABCB11):c.3510_3511insT (p.Met1171fs)
|
|
|
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)
|
rs1691232631
|
|
NM_003742.4(ABCB11):c.3636del (p.Ser1214fs)
|
rs2105876276
|
|
NM_003742.4(ABCB11):c.3659_3660del (p.Leu1219_Ser1220insTer)
|
rs1691231110
|
|
NM_003742.4(ABCB11):c.3662G>A (p.Arg1221Lys)
|
|
|
NM_003742.4(ABCB11):c.3728A>G (p.Asp1243Gly)
|
rs761200259
|
|
NM_003742.4(ABCB11):c.3767dup (p.Val1257fs)
|
rs387907317
|
|
NM_003742.4(ABCB11):c.3777del (p.Ala1260fs)
|
|
|
NM_003742.4(ABCB11):c.3787A>T (p.Lys1263Ter)
|
|
|
NM_003742.4(ABCB11):c.379del (p.Thr127fs)
|
rs1558927163
|
|
NM_003742.4(ABCB11):c.3802C>T (p.Arg1268Trp)
|
rs555881834
|
|
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
|
|
|
NM_003742.4(ABCB11):c.3804del (p.Thr1269fs)
|
rs1231877314
|
|
NM_003742.4(ABCB11):c.3880del (p.Val1293_Val1294insTer)
|
|
|
NM_003742.4(ABCB11):c.3890dup (p.Thr1299fs)
|
|
|
NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
|
NM_003742.4(ABCB11):c.3904G>T (p.Glu1302Ter)
|
rs1691171678
|
|
NM_003742.4(ABCB11):c.409G>T (p.Glu137Ter)
|
rs1026511416
|
|
NM_003742.4(ABCB11):c.483C>A (p.Cys161Ter)
|
rs777119489
|
|
NM_003742.4(ABCB11):c.532del (p.Tyr178fs)
|
rs2106013953
|
|
NM_003742.4(ABCB11):c.567G>A (p.Trp189Ter)
|
|
|
NM_003742.4(ABCB11):c.611+2dup
|
|
|
NM_003742.4(ABCB11):c.625dup (p.Ile209fs)
|
rs2106010917
|
|
NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
|
|
|
NM_003742.4(ABCB11):c.664C>T (p.Gln222Ter)
|
rs1292921760
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_003742.4(ABCB11):c.695del (p.Leu232fs)
|
|
|
NM_003742.4(ABCB11):c.721C>T (p.Leu241=)
|
|
|
NM_003742.4(ABCB11):c.74C>A (p.Ser25Ter)
|
|
|
NM_003742.4(ABCB11):c.779G>A (p.Gly260Asp)
|
|
|
NM_003742.4(ABCB11):c.793A>T (p.Lys265Ter)
|
rs2106005174
|
|
NM_003742.4(ABCB11):c.843del (p.Asp282fs)
|
rs2106004956
|
|
NM_003742.4(ABCB11):c.847G>T (p.Glu283Ter)
|
rs1558912774
|
|
NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
|
|
|
NM_003742.4(ABCB11):c.906_907insTGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGACCTCAAACAAATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGAAAAGAGAGGTTGAA (p.Arg303delinsTrpGluLysIlePheAlaThrTyrSerSerAspLysGlyLeuIleSerArgIleTyrAsnAspLeuLysGlnXaaXaaXaaXaaLysLysLysLysLysLysLysGluLysArgGlyTer)
|
rs2106004684
|
|
NM_003742.4(ABCB11):c.908+1G>C
|
rs147649016
|
|
NM_003742.4(ABCB11):c.908+1G>T
|
rs147649016
|
|
NM_003742.4(ABCB11):c.908+1del
|
rs1553469602
|
|
NM_003742.4(ABCB11):c.912T>A (p.Tyr304Ter)
|
|
|
NM_003742.4(ABCB11):c.919_920del (p.Asn307fs)
|
|
|
NM_003742.4(ABCB11):c.934C>T (p.Gln312Ter)
|
|
|
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)
|
rs1418620415
|
|
NM_003742.4(ABCB11):c.99-2A>G
|
|
|