NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
|
rs146525445
|
0.00007
|
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr)
|
rs782809184
|
0.00004
|
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser)
|
rs782158792
|
0.00002
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp)
|
rs782760033
|
0.00002
|
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys)
|
rs782007706
|
0.00001
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
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.1744G>A (p.Val582Ile)
|
rs76180859
|
0.00001
|
NM_000033.4(ABCD1):c.2111C>T (p.Ala704Val)
|
rs782740513
|
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
|
NM_000033.4(ABCD1):c.1007A>G (p.Lys336Arg)
|
|
|
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
|
|
|
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
|
|
|
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro)
|
rs2148392029
|
|
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
|
|
|
NM_000033.4(ABCD1):c.110G>C (p.Arg37Pro)
|
|
|
NM_000033.4(ABCD1):c.1136G>A (p.Ser379Asn)
|
|
|
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)
|
rs128624215
|
|
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val)
|
rs2148395465
|
|
NM_000033.4(ABCD1):c.1192G>A (p.Ala398Thr)
|
rs2148395474
|
|
NM_000033.4(ABCD1):c.1193C>T (p.Ala398Val)
|
rs2148395475
|
|
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)
|
rs128624219
|
|
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
|
|
|
NM_000033.4(ABCD1):c.121del (p.Ala41fs)
|
rs2148388671
|
|
NM_000033.4(ABCD1):c.1224+1G>T
|
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1393G>A (p.Gly465Ser)
|
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp)
|
|
|
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
|
|
|
NM_000033.4(ABCD1):c.1463TGG[2] (p.Val490del)
|
rs1603234766
|
|
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
|
|
|
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
|
|
|
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)
|
rs1557054745
|
|
NM_000033.4(ABCD1):c.1533C>G (p.Cys511Trp)
|
rs782370364
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg)
|
rs2091762670
|
|
NM_000033.4(ABCD1):c.1583GTG[1] (p.Gly529del)
|
|
|
NM_000033.4(ABCD1):c.1600C>A (p.Pro534Thr)
|
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1628del (p.Pro543fs)
|
rs1603235321
|
|
NM_000033.4(ABCD1):c.1634+1G>C
|
|
|
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu)
|
rs1603235394
|
|
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val)
|
rs2148397902
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro)
|
rs2091764595
|
|
NM_000033.4(ABCD1):c.1747G>C (p.Val583Leu)
|
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1772G>A (p.Arg591Gln)
|
rs1557054873
|
|
NM_000033.4(ABCD1):c.1781-1G>T
|
|
|
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)
|
rs398123107
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
|
NM_000033.4(ABCD1):c.1832A>G (p.Gln611Arg)
|
rs1569541194
|
|
NM_000033.4(ABCD1):c.1835del (p.Arg612fs)
|
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1850G>A (p.Arg617His)
|
rs11146842
|
|
NM_000033.4(ABCD1):c.1850G>C (p.Arg617Pro)
|
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)
|
rs202125585
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
|
|
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn)
|
rs886044887
|
|
NM_000033.4(ABCD1):c.1927A>T (p.Ile643Phe)
|
|
|
NM_000033.4(ABCD1):c.1928T>C (p.Ile643Thr)
|
|
|
NM_000033.4(ABCD1):c.1932C>A (p.Phe644Leu)
|
|
|
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro)
|
rs2148399307
|
|
NM_000033.4(ABCD1):c.1966_1967dup (p.Ile657fs)
|
rs2148399303
|
|
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)
|
rs1569541203
|
|
NM_000033.4(ABCD1):c.2011C>A (p.Leu671Ile)
|
|
|
NM_000033.4(ABCD1):c.2029G>A (p.Gly677Ser)
|
|
|
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)
|
|
|
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu)
|
rs782701925
|
|
NM_000033.4(ABCD1):c.2120C>T (p.Pro707Leu)
|
|
|
NM_000033.4(ABCD1):c.2152C>T (p.Gln718Ter)
|
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
|
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.236T>C (p.Leu79Pro)
|
|
|
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
|
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr)
|
rs2091705016
|
|
NM_000033.4(ABCD1):c.268G>T (p.Glu90Ter)
|
rs2148388883
|
|
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)
|
rs1557052294
|
|
NM_000033.4(ABCD1):c.314C>G (p.Thr105Ser)
|
|
|
NM_000033.4(ABCD1):c.335C>T (p.Ala112Val)
|
|
|
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
|
|
|
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
|
rs1603231848
|
|
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)
|
rs2091706547
|
|
NM_000033.4(ABCD1):c.425_426del (p.Leu142fs)
|
rs2148389181
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro)
|
rs1557052367
|
|
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser)
|
rs2148389278
|
|
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.521A>G (p.Tyr174Cys)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly)
|
rs1603232005
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
|
|
|
NM_000033.4(ABCD1):c.571C>T (p.Arg191Cys)
|
|
|
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.614C>A (p.Ala205Glu)
|
rs398123113
|
|
NM_000033.4(ABCD1):c.615_617dup (p.Ala206_Ser207insAla)
|
|
|
NM_000033.4(ABCD1):c.616G>C (p.Ala206Pro)
|
|
|
NM_000033.4(ABCD1):c.630C>G (p.His210Gln)
|
|
|
NM_000033.4(ABCD1):c.664G>A (p.Val222Met)
|
|
|
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)
|
|
|
NM_000033.4(ABCD1):c.678del (p.Tyr227fs)
|
|
|
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys)
|
rs1557052478
|
|
NM_000033.4(ABCD1):c.724_731del (p.Trp242fs)
|
|
|
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)
|
|
|
NM_000033.4(ABCD1):c.761C>A (p.Thr254Lys)
|
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
NM_000033.4(ABCD1):c.763G>A (p.Ala255Thr)
|
|
|
NM_000033.4(ABCD1):c.763dup (p.Ala255fs)
|
|
|
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)
|
rs1204814114
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
|
|
|
NM_000033.4(ABCD1):c.799del (p.Glu267fs)
|
rs2148389850
|
|
NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)
|
|
|
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>A (p.Gly277Glu)
|
|
|
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.847C>T (p.His283Tyr)
|
rs782509393
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser)
|
rs782334088
|
|
NM_000033.4(ABCD1):c.857T>G (p.Val286Gly)
|
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
|
|
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
|
|
|
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.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.880G>C (p.Ala294Pro)
|
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.88C>G (p.His30Asp)
|
|
|
NM_000033.4(ABCD1):c.901-1G>A
|
rs2148391908
|
|
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
|
rs1603233089
|
|
NM_000033.4(ABCD1):c.925T>C (p.Ser309Pro)
|
|
|
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
|
|
|
NM_000033.4(ABCD1):c.977_985del (p.Trp326_Met329delinsLeu)
|
|
|
NM_000033.4(ABCD1):c.9_13del (p.Leu4fs)
|
rs2148388506
|
|