NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu)
|
rs1204814114
|
0.00002
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)
|
rs1159943880
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
0.00001
|
NC_000023.10:g.(?_153002694)_153020558del
|
|
|
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
|
|
|
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg)
|
rs1603233120
|
|
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)
|
rs2091726796
|
|
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)
|
rs2091726809
|
|
NM_000033.4(ABCD1):c.102del (p.Leu35fs)
|
rs2148388645
|
|
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
|
|
|
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_000033.4(ABCD1):c.1081+1G>C
|
|
|
NM_000033.4(ABCD1):c.1082-1G>A
|
rs1557054153
|
|
NM_000033.4(ABCD1):c.10dup (p.Leu4fs)
|
rs2091702447
|
|
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
|
|
|
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)
|
rs1603234466
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
|
rs1557054173
|
|
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
|
rs2091749146
|
|
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)
|
rs1569541006
|
|
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
|
|
|
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
|
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
|
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
|
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1394-2_1404del
|
|
|
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr)
|
rs2148396070
|
|
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)
|
|
|
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
|
|
|
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
|
|
|
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn)
|
rs2091753125
|
|
NM_000033.4(ABCD1):c.1500dup (p.Met501fs)
|
|
|
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)
|
rs1603235267
|
|
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)
|
rs2091762267
|
|
NM_000033.4(ABCD1):c.1508del (p.Leu503fs)
|
|
|
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
|
|
|
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser)
|
rs2148397545
|
|
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
|
|
|
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu)
|
rs1569541087
|
|
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
|
|
|
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp)
|
rs2148397558
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val)
|
rs2148397565
|
|
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
|
|
|
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)
|
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
|
|
|
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
|
|
|
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
|
|
|
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)
|
rs193922094
|
|
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
|
|
|
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)
|
rs2091763089
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
|
rs2091764526
|
|
NM_000033.4(ABCD1):c.1678C>T (p.Pro560Ser)
|
|
|
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr)
|
rs2148397936
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
|
|
|
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)
|
rs1603235421
|
|
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)
|
rs2091764754
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)
|
|
|
NM_000033.4(ABCD1):c.1781-2A>G
|
|
|
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
|
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)
|
rs2091772331
|
|
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala)
|
rs78993751
|
|
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)
|
rs1557055260
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr)
|
rs2148399060
|
|
NM_000033.4(ABCD1):c.1865+1G>A
|
rs1569541198
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1866-1G>A
|
rs1557055311
|
|
NM_000033.4(ABCD1):c.1866-1G>C
|
rs1557055311
|
|
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)
|
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
|
rs2148399201
|
|
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val)
|
rs2148399208
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
|
|
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
|
rs1603236012
|
|
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
|
|
|
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
|
|
|
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe)
|
rs1603236020
|
|
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)
|
rs1557055337
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)
|
rs886044882
|
|
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)
|
rs2091775068
|
|
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
|
rs1603236086
|
|
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile)
|
rs1557055398
|
|
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)
|
rs1569541207
|
|
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)
|
rs1557055405
|
|
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)
|
rs2091775375
|
|
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
|
|
|
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
|
|
|
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)
|
rs868953385
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
NM_000033.4(ABCD1):c.22dup (p.Arg8fs)
|
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)
|
|
|
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
|
|
|
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)
|
rs2148388971
|
|
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)
|
rs1557052302
|
|
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)
|
rs2148388986
|
|
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)
|
rs1569540688
|
|
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
|
|
|
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
|
rs1603231848
|
|
NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)
|
|
|
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)
|
|
|
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del)
|
rs1557052351
|
|
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val)
|
rs1603231911
|
|
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
|
|
|
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
|
|
|
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
|
|
|
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)
|
|
|
NM_000033.4(ABCD1):c.476_499del (p.Ala159_Leu166del)
|
|
|
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
|
|
|
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)
|
rs2091708534
|
|
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)
|
rs1569540703
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs)
|
rs2091708827
|
|
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn)
|
rs864309520
|
|
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
|
rs1569540710
|
|
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)
|
rs2091709142
|
|
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
|
|
|
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)
|
rs2091709198
|
|
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
|
rs2091709505
|
|
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
|
|
|
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del)
|
rs2091710358
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)
|
rs2091710960
|
|
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
|
|
|
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
|
|
|
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)
|
rs1569540665
|
|
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
|
|
|
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)
|
|
|
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val)
|
rs2091711473
|
|
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)
|
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)
|
rs1557052555
|
|
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr)
|
rs782509393
|
|
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
|
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly)
|
rs782334088
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
|
|
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp)
|
rs2148389975
|
|
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
|
rs2091712008
|
|
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)
|
rs1603232237
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
|
rs1603232243
|
|
NM_000033.4(ABCD1):c.900+2T>C
|
rs2091712381
|
|
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)
|
rs1569540743
|
|
NM_000033.4(ABCD1):c.901-9_903del
|
rs2148391889
|
|
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met)
|
rs2091726242
|
|
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly)
|
rs2091726251
|
|
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del)
|
rs2148391915
|
|
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)
|
|
|
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)
|
rs941503814
|
|
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
|
|
|
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
|
|
|
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
|
rs1557053241
|
|