NM_003742.4(ABCB11):c.1460G>A (p.Arg487His)
|
rs188824058
|
0.00013
|
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.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.3691C>T (p.Arg1231Trp)
|
rs766285158
|
0.00002
|
NM_003742.4(ABCB11):c.76+1G>A
|
rs1413569310
|
0.00002
|
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.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.3458G>A (p.Arg1153His)
|
rs748862206
|
0.00001
|
NM_003742.4(ABCB11):c.403G>A (p.Glu135Lys)
|
rs752992432
|
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.1083+2T>C
|
rs2105996078
|
|
NM_003742.4(ABCB11):c.1131_1132del (p.Pro378fs)
|
rs2105984736
|
|
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.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.150+2T>C
|
rs1210590064
|
|
NM_003742.4(ABCB11):c.151-2A>G
|
|
|
NM_003742.4(ABCB11):c.1543A>G (p.Asn515Asp)
|
|
|
NM_003742.4(ABCB11):c.1708G>T (p.Ala570Ser)
|
rs886043807
|
|
NM_003742.4(ABCB11):c.1754C>A (p.Ala585Asp)
|
rs2105959754
|
|
NM_003742.4(ABCB11):c.1763C>G (p.Ala588Gly)
|
|
|
NM_003742.4(ABCB11):c.1907A>G (p.Glu636Gly)
|
rs199671371
|
|
NM_003742.4(ABCB11):c.2011+1G>C
|
|
|
NM_003742.4(ABCB11):c.2011+1G>T
|
|
|
NM_003742.4(ABCB11):c.2343+1G>T
|
rs774411820
|
|
NM_003742.4(ABCB11):c.236T>A (p.Val79Glu)
|
rs886044603
|
|
NM_003742.4(ABCB11):c.2449-1G>A
|
|
|
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.3240del (p.Phe1080fs)
|
rs1553545923
|
|
NM_003742.4(ABCB11):c.3412-1G>A
|
rs1691365745
|
|
NM_003742.4(ABCB11):c.3628A>C (p.Thr1210Pro)
|
rs1691232631
|
|
NM_003742.4(ABCB11):c.3634G>T (p.Val1212Phe)
|
|
|
NM_003742.4(ABCB11):c.3691C>G (p.Arg1231Gly)
|
|
|
NM_003742.4(ABCB11):c.3722T>C (p.Leu1241Pro)
|
rs1064797269
|
|
NM_003742.4(ABCB11):c.390-1G>T
|
rs1558917090
|
|
NM_003742.4(ABCB11):c.409G>A (p.Glu137Lys)
|
rs1026511416
|
|
NM_003742.4(ABCB11):c.477+1G>A
|
|
|
NM_003742.4(ABCB11):c.77-2A>G
|
|
|
NM_003742.4(ABCB11):c.784-1G>C
|
|
|
NM_003742.4(ABCB11):c.907_908+9del
|
rs2106004648
|
|
NM_003742.4(ABCB11):c.98+1G>A
|
rs1695369774
|
|
NM_003742.4(ABCB11):c.98+5G>T
|
rs2106055125
|
|