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.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
NM_000033.4(ABCD1):c.1553G>A (p.Arg518Gln)
|
rs398123102
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu)
|
rs128624225
|
0.00001
|
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys)
|
rs782334088
|
0.00001
|
NC_000023.10:g.(?_152990722)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_152991573)_(152995898_?)del
|
|
|
NC_000023.10:g.(?_152994617)_(153006193_?)del
|
|
|
NC_000023.10:g.(?_152996855)_(153006103_?)del
|
|
|
NC_000023.10:g.(?_152999896)_(153005554_?)del
|
|
|
NC_000023.10:g.(?_153001546)_(153002725_?)del
|
|
|
NC_000023.10:g.(?_153001546)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153001789)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153002601)_(153002715_?)del
|
|
|
NC_000023.10:g.(?_153005725)_(153006804_?)del
|
|
|
NC_000023.10:g.(?_153008421)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153008421)_(153009209_?)del
|
|
|
NC_000023.10:g.(?_153008655)_(153009189_?)del
|
|
|
NC_000023.10:g.(?_153008701)_(153011800_?)del
|
|
|
NC_000023.11:g.(?_153736092)_(153743755_?)del
|
|
|
NC_000023.11:g.(?_153736102)_(153743735_?)del
|
|
|
NC_000023.11:g.(?_153736102)_(153743745_?)del
|
|
|
NC_000023.11:g.(?_153740082)_(153740247_?)del
|
|
|
NC_000023.11:g.(?_153742977)_(153743745_?)del
|
|
|
NC_000023.11:g.(?_153743201)_(153743755_?)del
|
|
|
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs)
|
rs387906497
|
|
NM_000033.4(ABCD1):c.1002del (p.Leu334_Met335insTer)
|
|
|
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)
|
|
|
NM_000033.4(ABCD1):c.102del (p.Leu35fs)
|
rs2148388645
|
|
NM_000033.4(ABCD1):c.1081+1G>A
|
rs2091727061
|
|
NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)
|
|
|
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter)
|
rs1569541000
|
|
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs)
|
rs1603234451
|
|
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter)
|
rs782266592
|
|
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter)
|
rs782007706
|
|
NM_000033.4(ABCD1):c.1165C>G (p.Arg389Gly)
|
rs128624215
|
|
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.1201C>T (p.Arg401Trp)
|
rs727503786
|
|
NM_000033.4(ABCD1):c.1202G>A (p.Arg401Gln)
|
rs128624219
|
|
NM_000033.4(ABCD1):c.121dup (p.Ala41fs)
|
|
|
NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)
|
|
|
NM_000033.4(ABCD1):c.1224+2T>A
|
|
|
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=)
|
rs2148395507
|
|
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro)
|
rs1569541011
|
|
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg)
|
rs2091749844
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)
|
|
|
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter)
|
rs1557054210
|
|
NM_000033.4(ABCD1):c.1287del (p.Gln430fs)
|
|
|
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter)
|
rs797044726
|
|
NM_000033.4(ABCD1):c.1324_1327dup (p.Ala443fs)
|
rs2148395658
|
|
NM_000033.4(ABCD1):c.1359del (p.Gly454fs)
|
rs1603234574
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1393+1G>A
|
|
|
NM_000033.4(ABCD1):c.1394-2A>G
|
|
|
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter)
|
rs398123100
|
|
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter)
|
rs2091752744
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.1430del (p.Glu477fs)
|
rs2148396057
|
|
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
|
|
|
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met)
|
rs1569541035
|
|
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter)
|
rs1603234759
|
|
NM_000033.4(ABCD1):c.1457del (p.Gly486fs)
|
|
|
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs)
|
rs1569540676
|
|
NM_000033.4(ABCD1):c.1488+1G>A
|
rs2091753176
|
|
NM_000033.4(ABCD1):c.1489-1G>A
|
rs1603235263
|
|
NM_000033.4(ABCD1):c.1489-2A>G
|
|
|
NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs)
|
rs2148397523
|
|
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)
|
|
|
NM_000033.4(ABCD1):c.1529del (p.Gly510fs)
|
rs2091762383
|
|
NM_000033.4(ABCD1):c.1530del (p.Cys511fs)
|
|
|
NM_000033.4(ABCD1):c.1531_1536del (p.Cys511_Gly512del)
|
rs2091762396
|
|
NM_000033.4(ABCD1):c.1532G>A (p.Cys511Tyr)
|
rs1557054745
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1544C>T (p.Ser515Phe)
|
rs128624223
|
|
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
|
|
|
NM_000033.4(ABCD1):c.154G>T (p.Glu52Ter)
|
rs2148388737
|
|
NM_000033.4(ABCD1):c.1552C>G (p.Arg518Gly)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1562del (p.Gly521fs)
|
|
|
NM_000033.4(ABCD1):c.1567C>T (p.Leu523Phe)
|
rs1159943880
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1615_1616dup (p.Met539fs)
|
|
|
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.1634+1G>T
|
|
|
NM_000033.4(ABCD1):c.1635-2A>G
|
rs1569541109
|
|
NM_000033.4(ABCD1):c.1642_1643del (p.Met548fs)
|
|
|
NM_000033.4(ABCD1):c.1657del (p.Leu553fs)
|
rs2148397899
|
|
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs)
|
rs1569541115
|
|
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His)
|
rs201568579
|
|
NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)
|
|
|
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter)
|
rs2148397922
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1695del (p.Asp565fs)
|
rs2091764622
|
|
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs)
|
rs1557052133
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter)
|
rs2148397954
|
|
NM_000033.4(ABCD1):c.1742_1781-968del
|
|
|
NM_000033.4(ABCD1):c.1753del (p.Leu585fs)
|
|
|
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.1780+2T>G
|
rs1557054875
|
|
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg)
|
rs2148398002
|
|
NM_000033.4(ABCD1):c.1784G>A (p.Trp595Ter)
|
rs1603235901
|
|
NM_000033.4(ABCD1):c.1785G>A (p.Trp595Ter)
|
rs2148398982
|
|
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs)
|
rs2148398995
|
|
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter)
|
rs398123107
|
|
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter)
|
rs128624225
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1825G>A (p.Glu609Lys)
|
rs150346282
|
|
NM_000033.4(ABCD1):c.1825_1847dup (p.Met618fs)
|
rs2148399034
|
|
NM_000033.4(ABCD1):c.1831C>T (p.Gln611Ter)
|
|
|
NM_000033.4(ABCD1):c.1832dup (p.Arg612fs)
|
|
|
NM_000033.4(ABCD1):c.1848_1855dup (p.Phe619fs)
|
|
|
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.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)
|
|
|
NM_000033.4(ABCD1):c.1891T>C (p.Cys631Arg)
|
rs2148399209
|
|
NM_000033.4(ABCD1):c.1892G>A (p.Cys631Tyr)
|
rs2091773525
|
|
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg)
|
rs202125585
|
|
NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)
|
|
|
NM_000033.4(ABCD1):c.1933del (p.Gln645fs)
|
rs1603236013
|
|
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro)
|
rs2091774046
|
|
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp)
|
rs1569541203
|
|
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1988dup (p.Trp664fs)
|
rs2148399327
|
|
NM_000033.4(ABCD1):c.1990dup (p.Trp664fs)
|
rs2148399330
|
|
NM_000033.4(ABCD1):c.1991+1G>A
|
|
|
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter)
|
rs1170974058
|
|
NM_000033.4(ABCD1):c.1998_1999insGC (p.His667fs)
|
rs1557055392
|
|
NM_000033.4(ABCD1):c.1999C>G (p.His667Asp)
|
rs2091775068
|
|
NM_000033.4(ABCD1):c.1A>G (p.Met1Val)
|
rs2091702389
|
|
NM_000033.4(ABCD1):c.2006A>G (p.His669Arg)
|
rs2091775127
|
|
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs)
|
rs797044625
|
|
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
|
|
|
NM_000033.4(ABCD1):c.2019_2025dup (p.Glu676fs)
|
|
|
NM_000033.4(ABCD1):c.2030dup (p.Gly678fs)
|
rs2148399483
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.234_242dup (p.Arg80_Leu82dup)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.241_242dup (p.Leu82fs)
|
|
|
NM_000033.4(ABCD1):c.250C>T (p.Pro84Ser)
|
|
|
NM_000033.4(ABCD1):c.251C>T (p.Pro84Leu)
|
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
NM_000033.4(ABCD1):c.253dup (p.Arg85fs)
|
rs713993050
|
|
NM_000033.4(ABCD1):c.269dup (p.Thr91fs)
|
|
|
NM_000033.4(ABCD1):c.276del (p.Leu93fs)
|
|
|
NM_000033.4(ABCD1):c.290A>C (p.His97Pro)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)
|
|
|
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu)
|
rs1557052294
|
|
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter)
|
rs2148388538
|
|
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter)
|
rs1304001811
|
|
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.323C>T (p.Ser108Leu)
|
rs2091705631
|
|
NM_000033.4(ABCD1):c.340_360del (p.Leu114_Arg120del)
|
rs2148389007
|
|
NM_000033.4(ABCD1):c.346G>A (p.Gly116Arg)
|
rs398123110
|
|
NM_000033.4(ABCD1):c.346G>C (p.Gly116Arg)
|
rs398123110
|
|
NM_000033.4(ABCD1):c.36del (p.Asn13fs)
|
rs1603231653
|
|
NM_000033.4(ABCD1):c.36dup (p.Asn13fs)
|
rs1603231653
|
|
NM_000033.4(ABCD1):c.3_4delinsTT (p.Met1_Pro2delinsIleSer)
|
|
|
NM_000033.4(ABCD1):c.3dup (p.Pro2fs)
|
|
|
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter)
|
rs398123111
|
|
NM_000033.4(ABCD1):c.408del (p.Gln136fs)
|
rs1603231897
|
|
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)
|
rs2091706547
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr)
|
rs1569540692
|
|
NM_000033.4(ABCD1):c.454C>G (p.Arg152Gly)
|
rs1569540693
|
|
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.469C>T (p.Gln157Ter)
|
|
|
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter)
|
rs373957035
|
|
NM_000033.4(ABCD1):c.483del (p.Phe162fs)
|
rs2091707458
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.487del (p.Arg163fs)
|
|
|
NM_000033.4(ABCD1):c.498_520del (p.Val167fs)
|
rs398123112
|
|
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.522C>G (p.Tyr174Ter)
|
rs2148389350
|
|
NM_000033.4(ABCD1):c.524T>A (p.Phe175Tyr)
|
rs1569540700
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
|
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs)
|
rs1557052397
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
|
|
|
NM_000033.4(ABCD1):c.589_590del (p.Leu197fs)
|
rs2148389462
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn)
|
rs2091708688
|
|
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu)
|
rs398123113
|
|
NM_000033.4(ABCD1):c.631C>T (p.Leu211Phe)
|
rs2148389513
|
|
NM_000033.4(ABCD1):c.632T>G (p.Leu211Arg)
|
rs2148389516
|
|
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro)
|
rs2148389537
|
|
NM_000033.4(ABCD1):c.668_900+291del
|
rs2148389592
|
|
NM_000033.4(ABCD1):c.697del (p.Ala233fs)
|
rs2148389670
|
|
NM_000033.4(ABCD1):c.70del (p.Leu24fs)
|
rs1557052171
|
|
NM_000033.4(ABCD1):c.723del (p.Trp242fs)
|
rs1603232111
|
|
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala)
|
rs2148389772
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs)
|
rs1557052530
|
|
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp)
|
rs1204814114
|
|
NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del)
|
rs2148389834
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.797G>A (p.Gly266Glu)
|
rs2091711094
|
|
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del)
|
rs2091711370
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
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.841_853del (p.Tyr281fs)
|
|
|
NM_000033.4(ABCD1):c.847C>G (p.His283Asp)
|
rs782509393
|
|
NM_000033.4(ABCD1):c.848A>C (p.His283Pro)
|
|
|
NM_000033.4(ABCD1):c.848A>G (p.His283Arg)
|
rs2148389929
|
|
NM_000033.4(ABCD1):c.851C>A (p.Ser284Ter)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)
|
|
|
NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)
|
|
|
NM_000033.4(ABCD1):c.876G>C (p.Glu292Asp)
|
rs1557052573
|
|
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.893dup (p.His299fs)
|
|
|
NM_000033.4(ABCD1):c.901-2A>G
|
rs2148391907
|
|
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)
|
|
|
NM_000033.4(ABCD1):c.919C>T (p.Gln307Ter)
|
rs1603233089
|
|
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)
|
rs941503814
|
|
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro)
|
rs2148391974
|
|
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
|
|
|
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)
|
|
|
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter)
|
rs2091726671
|
|
NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)
|
|
|