NM_003742.4(ABCB11):c.2191C>T (p.Pro731Ser)
|
rs201240844
|
0.00021
|
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln)
|
rs11568370
|
0.00009
|
NM_003742.4(ABCB11):c.2012-8T>G
|
rs769910565
|
0.00006
|
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys)
|
rs199841445
|
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.3629C>G (p.Thr1210Ser)
|
rs1033490064
|
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.3676C>T (p.Arg1226Cys)
|
rs772241929
|
0.00002
|
NM_003742.4(ABCB11):c.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_003742.4(ABCB11):c.76+1G>A
|
rs1413569310
|
0.00002
|
NM_003742.4(ABCB11):c.1415A>G (p.Tyr472Cys)
|
rs369860506
|
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.1769A>G (p.Asp590Gly)
|
rs886044710
|
0.00001
|
NM_003742.4(ABCB11):c.22C>T (p.Arg8Ter)
|
rs886043986
|
0.00001
|
NM_003742.4(ABCB11):c.2494C>T (p.Arg832Cys)
|
rs772294884
|
0.00001
|
NM_003742.4(ABCB11):c.3083C>T (p.Ala1028Val)
|
rs1171209104
|
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.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
|
GRCh37/hg19 2q31.1(chr2:169787175-169789043)x1
|
|
|
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.(?_169842610)_(169852002_?)del
|
|
|
NC_000002.11:g.(?_169842610)_(169853242_?)dup
|
|
|
NM_003742.4(ABCB11):c.1029dup (p.Gly344fs)
|
|
|
NM_003742.4(ABCB11):c.1083+2T>C
|
rs2105996078
|
|
NM_003742.4(ABCB11):c.1100_1101dup (p.Val368Ter)
|
rs1574462504
|
|
NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs)
|
rs2105984736
|
|
NM_003742.4(ABCB11):c.1160G>A (p.Arg387His)
|
|
|
NM_003742.4(ABCB11):c.1190_1197+15del
|
|
|
NM_003742.4(ABCB11):c.1198-2A>C
|
|
|
NM_003742.4(ABCB11):c.1295G>C (p.Arg432Thr)
|
rs121908935
|
|
NM_003742.4(ABCB11):c.1388C>T (p.Thr463Ile)
|
|
|
NM_003742.4(ABCB11):c.1409G>T (p.Arg470Leu)
|
|
|
NM_003742.4(ABCB11):c.1435-1G>A
|
|
|
NM_003742.4(ABCB11):c.1444G>A (p.Asp482Asn)
|
rs1558897179
|
|
NM_003742.4(ABCB11):c.1459C>T (p.Arg487Cys)
|
|
|
NM_003742.4(ABCB11):c.1460G>T (p.Arg487Leu)
|
|
|
NM_003742.4(ABCB11):c.1484G>T (p.Arg495Ile)
|
|
|
NM_003742.4(ABCB11):c.150+2T>C
|
rs1210590064
|
|
NM_003742.4(ABCB11):c.150+3A>C
|
rs387906354
|
|
NM_003742.4(ABCB11):c.151-2A>G
|
|
|
NM_003742.4(ABCB11):c.151-9T>G
|
|
|
NM_003742.4(ABCB11):c.1543A>G (p.Asn515Asp)
|
|
|
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.1623C>G (p.Ile541Met)
|
rs764296800
|
|
NM_003742.4(ABCB11):c.1636C>T (p.Gln546Ter)
|
|
|
NM_003742.4(ABCB11):c.1685G>A (p.Gly562Asp)
|
|
|
NM_003742.4(ABCB11):c.1687C>T (p.Gln563Ter)
|
|
|
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser)
|
rs886043807
|
|
NM_003742.4(ABCB11):c.1709C>T (p.Ala570Val)
|
|
|
NM_003742.4(ABCB11):c.1754C>A (p.Ala585Asp)
|
rs2105959754
|
|
NM_003742.4(ABCB11):c.1763C>G (p.Ala588Gly)
|
|
|
NM_003742.4(ABCB11):c.1789dup (p.Val597fs)
|
|
|
NM_003742.4(ABCB11):c.180_181dup (p.Leu61fs)
|
|
|
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)
|
rs199671371
|
|
NM_003742.4(ABCB11):c.1975C>T (p.Gln659Ter)
|
|
|
NM_003742.4(ABCB11):c.1996G>T (p.Glu666Ter)
|
|
|
NM_003742.4(ABCB11):c.2011+1G>C
|
|
|
NM_003742.4(ABCB11):c.2011+1G>T
|
|
|
NM_003742.4(ABCB11):c.2075+2T>C
|
rs1574445178
|
|
NM_003742.4(ABCB11):c.2076-1G>A
|
rs2105947080
|
|
NM_003742.4(ABCB11):c.2077G>C (p.Ala693Pro)
|
|
|
NM_003742.4(ABCB11):c.2086C>T (p.Arg696Trp)
|
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
NM_003742.4(ABCB11):c.2150_2156del (p.His717fs)
|
|
|
NM_003742.4(ABCB11):c.2178+2T>C
|
rs1693198121
|
|
NM_003742.4(ABCB11):c.2179-1G>A
|
rs2105935255
|
|
NM_003742.4(ABCB11):c.2272G>C (p.Gly758Arg)
|
|
|
NM_003742.4(ABCB11):c.2281_2282del (p.Gly761fs)
|
|
|
NM_003742.4(ABCB11):c.2319dup (p.Phe774fs)
|
rs1692870573
|
|
NM_003742.4(ABCB11):c.2343+1G>C
|
|
|
NM_003742.4(ABCB11):c.2343+1G>T
|
rs774411820
|
|
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu)
|
rs886044603
|
|
NM_003742.4(ABCB11):c.2418C>T (p.Gly806=)
|
|
|
NM_003742.4(ABCB11):c.2432del (p.Phe811fs)
|
|
|
NM_003742.4(ABCB11):c.2449-1G>A
|
|
|
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)
|
rs1258387740
|
|
NM_003742.4(ABCB11):c.2913del (p.Phe971fs)
|
|
|
NM_003742.4(ABCB11):c.3003A>G (p.Arg1001=)
|
|
|
NM_003742.4(ABCB11):c.3011G>A (p.Gly1004Asp)
|
|
|
NM_003742.4(ABCB11):c.3056+1G>A
|
rs1243952083
|
|
NM_003742.4(ABCB11):c.3081T>A (p.Ser1027Arg)
|
|
|
NM_003742.4(ABCB11):c.3094G>C (p.Gly1032Arg)
|
rs2105891596
|
|
NM_003742.4(ABCB11):c.319T>C (p.Cys107Arg)
|
|
|
NM_003742.4(ABCB11):c.3224del (p.Gln1075fs)
|
|
|
NM_003742.4(ABCB11):c.3233T>A (p.Ile1078Asn)
|
|
|
NM_003742.4(ABCB11):c.3240del (p.Phe1080fs)
|
rs1553545923
|
|
NM_003742.4(ABCB11):c.3382C>G (p.Arg1128Gly)
|
rs764581483
|
|
NM_003742.4(ABCB11):c.3412-1G>A
|
rs1691365745
|
|
NM_003742.4(ABCB11):c.3624T>A (p.Tyr1208Ter)
|
|
|
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)
|
rs1691232631
|
|
NM_003742.4(ABCB11):c.3634G>T (p.Val1212Phe)
|
|
|
NM_003742.4(ABCB11):c.3677G>T (p.Arg1226Leu)
|
rs778992761
|
|
NM_003742.4(ABCB11):c.3691C>G (p.Arg1231Gly)
|
|
|
NM_003742.4(ABCB11):c.3722T>C (p.Leu1241Pro)
|
rs1064797269
|
|
NM_003742.4(ABCB11):c.3803G>A (p.Arg1268Gln)
|
|
|
NM_003742.4(ABCB11):c.3812T>A (p.Ile1271Asn)
|
|
|
NM_003742.4(ABCB11):c.3875G>A (p.Gly1292Glu)
|
rs1553543921
|
|
NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
|
NM_003742.4(ABCB11):c.392T>A (p.Leu131Ter)
|
|
|
NM_003742.4(ABCB11):c.3945del (p.Thr1316fs)
|
rs886043366
|
|
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys)
|
rs1026511416
|
|
NM_003742.4(ABCB11):c.432dup (p.Tyr145fs)
|
|
|
NM_003742.4(ABCB11):c.435T>G (p.Tyr145Ter)
|
|
|
NM_003742.4(ABCB11):c.477+1G>A
|
|
|
NM_003742.4(ABCB11):c.489G>A (p.Trp163Ter)
|
|
|
NM_003742.4(ABCB11):c.617_619del (p.Ile206del)
|
|
|
NM_003742.4(ABCB11):c.65C>G (p.Ser22Ter)
|
|
|
NM_003742.4(ABCB11):c.677C>T (p.Ser226Leu)
|
rs1382100120
|
|
NM_003742.4(ABCB11):c.713G>T (p.Gly238Val)
|
|
|
NM_003742.4(ABCB11):c.717G>A (p.Trp239Ter)
|
|
|
NM_003742.4(ABCB11):c.77-2A>G
|
|
|
NM_003742.4(ABCB11):c.784-1G>C
|
|
|
NM_003742.4(ABCB11):c.798del (p.Phe266fs)
|
|
|
NM_003742.4(ABCB11):c.807T>G (p.Tyr269Ter)
|
|
|
NM_003742.4(ABCB11):c.884dup (p.Gly296fs)
|
|
|
NM_003742.4(ABCB11):c.907_908+9del
|
rs2106004648
|
|
NM_003742.4(ABCB11):c.908+1G>C
|
rs147649016
|
|
NM_003742.4(ABCB11):c.936G>T (p.Gln312His)
|
rs770497192
|
|
NM_003742.4(ABCB11):c.959_960del (p.Ile320fs)
|
rs1418620415
|
|
NM_003742.4(ABCB11):c.98+1G>A
|
rs1695369774
|
|
NM_003742.4(ABCB11):c.98+2T>C
|
|
|
NM_003742.4(ABCB11):c.98+5G>T
|
rs2106055125
|
|
NM_003742.4(ABCB11):c.989G>A (p.Trp330Ter)
|
|
|