ClinVar Miner

List of variants in gene ABCD1 studied for peroxisomal disease

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1419
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HGVS dbSNP gnomAD frequency
NM_000033.4(ABCD1):c.*8G>C rs2229539 0.70012
NM_000033.3(ABCD1):c.*1035C>T rs6643782 0.69879
NM_000033.4(ABCD1):c.1992-32C>T rs4898368 0.59030
NM_000033.4(ABCD1):c.*877C>T rs11803 0.46252
NM_000033.4(ABCD1):c.*894G>A rs1055847 0.44006
NM_000033.4(ABCD1):c.*608G>A rs73640819 0.19859
NM_000033.4(ABCD1):c.-59C>T rs4148030 0.09150
NM_000033.4(ABCD1):c.1548G>A (p.Leu516=) rs41314153 0.08321
NM_000033.4(ABCD1):c.1393+31C>T rs73633774 0.01908
NM_000033.4(ABCD1):c.*668C>T rs187420166 0.01599
NM_000033.4(ABCD1):c.2019C>T (p.Phe673=) rs76637913 0.01192
NM_000033.4(ABCD1):c.*123C>T rs186542134 0.01092
NM_000033.4(ABCD1):c.901-16C>T rs41302176 0.00840
NM_000033.4(ABCD1):c.901-10C>T rs2269365 0.00512
NM_000033.4(ABCD1):c.471A>G (p.Gln157=) rs151148684 0.00506
NM_000033.4(ABCD1):c.696G>T (p.Ala232=) rs147595334 0.00357
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_000033.4(ABCD1):c.1393+18C>G rs188551185 0.00164
NM_000033.4(ABCD1):c.1634+12C>T rs369538219 0.00150
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_000033.4(ABCD1):c.895C>T (p.His299Tyr) rs202195978 0.00088
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=) rs193922096 0.00080
NM_000033.4(ABCD1):c.-202C>G rs781978041 0.00067
NM_000033.4(ABCD1):c.*985C>G rs782309410 0.00063
NM_000033.4(ABCD1):c.258C>T (p.Val86=) rs200660869 0.00061
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955 0.00060
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000033.4(ABCD1):c.601G>A (p.Val201Met) rs139415350 0.00048
NM_000033.4(ABCD1):c.41C>G (p.Thr14Arg) rs782161942 0.00047
NM_000033.4(ABCD1):c.2112G>A (p.Ala704=) rs372309740 0.00046
NM_000033.4(ABCD1):c.1899C>T (p.Ser633=) rs202125585 0.00041
NM_000033.4(ABCD1):c.945G>A (p.Ser315=) rs145545199 0.00037
NM_000033.4(ABCD1):c.1047C>A (p.Val349=) rs185931852 0.00034
NM_000033.4(ABCD1):c.1581C>T (p.Tyr527=) rs145073701 0.00034
NM_000033.4(ABCD1):c.1810G>A (p.Val604Ile) rs151201945 0.00033
NM_000033.4(ABCD1):c.*903G>A rs78155328 0.00032
NM_000033.4(ABCD1):c.*767C>T rs1276642493 0.00031
NM_000033.4(ABCD1):c.181G>A (p.Ala61Thr) rs782134465 0.00028
NM_000033.4(ABCD1):c.1117A>G (p.Lys373Glu) rs368606000 0.00024
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000033.4(ABCD1):c.*412T>C rs1057515815 0.00020
NM_000033.4(ABCD1):c.1455A>C (p.Ser485=) rs150878397 0.00019
NM_000033.4(ABCD1):c.1215G>A (p.Ser405=) rs138233092 0.00018
NM_000033.4(ABCD1):c.1902C>T (p.Ala634=) rs141110958 0.00016
NM_000033.4(ABCD1):c.901-5C>T rs782603062 0.00015
NM_000033.4(ABCD1):c.1780+4G>A rs193922095 0.00014
NM_000033.4(ABCD1):c.420C>A (p.Ile140=) rs74315279 0.00014
NM_000033.4(ABCD1):c.1521C>T (p.Gly507=) rs373442692 0.00013
NM_000033.4(ABCD1):c.2044G>C (p.Glu682Gln) rs781793261 0.00013
NM_000033.4(ABCD1):c.691C>T (p.Arg231Trp) rs781932570 0.00013
NM_000033.4(ABCD1):c.1354C>T (p.Arg452Trp) rs368061976 0.00012
NM_000033.4(ABCD1):c.2202G>A (p.Pro734=) rs782093609 0.00012
NM_000033.4(ABCD1):c.*473C>T rs782343473 0.00011
NM_000033.4(ABCD1):c.50G>A (p.Arg17His) rs782693577 0.00011
NM_000033.4(ABCD1):c.108G>A (p.Val36=) rs368718078 0.00010
NM_000033.4(ABCD1):c.1245C>T (p.Tyr415=) rs782742220 0.00010
NM_000033.4(ABCD1):c.1582G>A (p.Gly528Ser) rs376472029 0.00010
NM_000033.4(ABCD1):c.54G>A (p.Thr18=) rs781855598 0.00010
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met) rs192525493 0.00009
NM_000033.4(ABCD1):c.1743C>T (p.Asp581=) rs782026057 0.00009
NM_000033.4(ABCD1):c.2079G>A (p.Thr693=) rs781935761 0.00009
NM_000033.4(ABCD1):c.1536C>G (p.Gly512=) rs139343560 0.00008
NM_000033.4(ABCD1):c.1781-5C>G rs781920026 0.00008
NM_000033.4(ABCD1):c.274G>A (p.Gly92Arg) rs201979180 0.00008
NM_000033.4(ABCD1):c.821G>A (p.Arg274Gln) rs781874815 0.00008
NM_000033.4(ABCD1):c.1125G>A (p.Glu375=) rs781928741 0.00007
NM_000033.4(ABCD1):c.1840G>A (p.Gly614Ser) rs146525445 0.00007
NM_000033.4(ABCD1):c.1865+16C>T rs782719238 0.00007
NM_000033.4(ABCD1):c.1914C>T (p.Asp638=) rs199723613 0.00007
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys) rs782376163 0.00007
NM_000033.4(ABCD1):c.483G>T (p.Ser161=) rs369052808 0.00007
NM_000033.4(ABCD1):c.504C>G (p.Ala168=) rs782453684 0.00007
NM_000033.4(ABCD1):c.870G>A (p.Ser290=) rs782563177 0.00007
NM_000033.4(ABCD1):c.100C>T (p.Pro34Ser) rs375019683 0.00006
NM_000033.4(ABCD1):c.1444G>A (p.Val482Ile) rs781806403 0.00006
NM_000033.4(ABCD1):c.1865+12G>A rs373638861 0.00006
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met) rs782157913 0.00006
NM_000033.4(ABCD1):c.1092C>T (p.Ala364=) rs782250326 0.00005
NM_000033.4(ABCD1):c.1635-6C>T rs782661128 0.00005
NM_000033.4(ABCD1):c.392G>T (p.Gly131Val) rs367799134 0.00005
NM_000033.4(ABCD1):c.414C>T (p.Leu138=) rs782197275 0.00005
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser) rs965462099 0.00005
NM_000033.4(ABCD1):c.1141C>T (p.Arg381Cys) rs781983308 0.00004
NM_000033.4(ABCD1):c.1230G>A (p.Thr410=) rs782004836 0.00004
NM_000033.4(ABCD1):c.1334C>T (p.Ala445Val) rs1432758988 0.00004
NM_000033.4(ABCD1):c.1533C>T (p.Cys511=) rs782370364 0.00004
NM_000033.4(ABCD1):c.1865+11C>T rs781956636 0.00004
NM_000033.4(ABCD1):c.1991+7G>A rs782472075 0.00004
NM_000033.4(ABCD1):c.2173G>A (p.Ala725Thr) rs782809184 0.00004
NM_000033.4(ABCD1):c.40A>G (p.Thr14Ala) rs781900720 0.00004
NM_000033.4(ABCD1):c.493C>T (p.Arg165Cys) rs781850760 0.00004
NM_000033.4(ABCD1):c.507C>T (p.His169=) rs782525046 0.00004
NM_000033.4(ABCD1):c.600C>T (p.Asp200=) rs782724538 0.00004
NM_000033.4(ABCD1):c.900+10G>C rs1177363482 0.00004
NM_000033.4(ABCD1):c.1068C>T (p.Gly356=) rs782548310 0.00003
NM_000033.4(ABCD1):c.1142G>A (p.Arg381His) rs782755297 0.00003
NM_000033.4(ABCD1):c.1456G>A (p.Gly486Arg) rs782242003 0.00003
NM_000033.4(ABCD1):c.1489-13G>T rs782622708 0.00003
NM_000033.4(ABCD1):c.1518A>T (p.Thr506=) rs1557054743 0.00003
NM_000033.4(ABCD1):c.1620C>T (p.Phe540=) rs782581290 0.00003
NM_000033.4(ABCD1):c.1938G>A (p.Ala646=) rs144996101 0.00003
NM_000033.4(ABCD1):c.2032G>A (p.Gly678Ser) rs782608984 0.00003
NM_000033.4(ABCD1):c.2169C>T (p.Ala723=) rs1557055461 0.00003
NM_000033.4(ABCD1):c.294G>T (p.Ser98=) rs781954264 0.00003
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly) rs1224689084 0.00003
NM_000033.4(ABCD1):c.436T>A (p.Phe146Ile) rs782720024 0.00003
NM_000033.4(ABCD1):c.476C>G (p.Ala159Gly) rs781871257 0.00003
NM_000033.4(ABCD1):c.732G>A (p.Ser244=) rs782643462 0.00003
NM_000033.4(ABCD1):c.768C>T (p.Asn256=) rs782236148 0.00003
NM_000033.4(ABCD1):c.90C>T (p.His30=) rs782195097 0.00003
NM_000033.4(ABCD1):c.*450T>A rs1479983733 0.00002
NM_000033.4(ABCD1):c.-10C>T rs782754717 0.00002
NM_000033.4(ABCD1):c.1082A>G (p.Asp361Gly) rs1557054156 0.00002
NM_000033.4(ABCD1):c.1152C>T (p.Ala384=) rs782095899 0.00002
NM_000033.4(ABCD1):c.1201C>A (p.Arg401=) rs727503786 0.00002
NM_000033.4(ABCD1):c.1212G>A (p.Ser404=) rs375656638 0.00002
NM_000033.4(ABCD1):c.1327G>A (p.Ala443Thr) rs782647014 0.00002
NM_000033.4(ABCD1):c.1413A>G (p.Glu471=) rs782035584 0.00002
NM_000033.4(ABCD1):c.1467G>A (p.Val489=) rs782516659 0.00002
NM_000033.4(ABCD1):c.1526A>G (p.Asn509Ser) rs782158792 0.00002
NM_000033.4(ABCD1):c.1629G>A (p.Pro543=) rs782278443 0.00002
NM_000033.4(ABCD1):c.1653C>T (p.Gly551=) rs200718788 0.00002
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met) rs1569541120 0.00002
NM_000033.4(ABCD1):c.1761C>T (p.His587=) rs1306734070 0.00002
NM_000033.4(ABCD1):c.1781-6G>A rs1427008949 0.00002
NM_000033.4(ABCD1):c.1790C>G (p.Ala597Gly) rs782065134 0.00002
NM_000033.4(ABCD1):c.1839C>T (p.Ile613=) rs782618093 0.00002
NM_000033.4(ABCD1):c.1911C>T (p.Ile637=) rs367901575 0.00002
NM_000033.4(ABCD1):c.1950G>A (p.Ala650=) rs74315281 0.00002
NM_000033.4(ABCD1):c.1992-15C>T rs782734602 0.00002
NM_000033.4(ABCD1):c.199A>G (p.Met67Val) rs1057114018 0.00002
NM_000033.4(ABCD1):c.2031C>T (p.Gly677=) rs782468372 0.00002
NM_000033.4(ABCD1):c.208G>A (p.Val70Ile) rs782701925 0.00002
NM_000033.4(ABCD1):c.2181G>A (p.Ala727=) rs375376269 0.00002
NM_000033.4(ABCD1):c.321G>A (p.Leu107=) rs375790297 0.00002
NM_000033.4(ABCD1):c.36G>A (p.Gly12=) rs1411271062 0.00002
NM_000033.4(ABCD1):c.381G>A (p.Pro127=) rs782672983 0.00002
NM_000033.4(ABCD1):c.386C>A (p.Ala129Asp) rs782359412 0.00002
NM_000033.4(ABCD1):c.389T>G (p.Phe130Cys) rs1557052334 0.00002
NM_000033.4(ABCD1):c.477C>T (p.Ala159=) rs782481544 0.00002
NM_000033.4(ABCD1):c.515G>A (p.Arg172His) rs541171928 0.00002
NM_000033.4(ABCD1):c.549C>T (p.Val183=) rs1169791916 0.00002
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu) rs1204814114 0.00002
NM_000033.4(ABCD1):c.795C>T (p.Phe265=) rs782336092 0.00002
NM_000033.4(ABCD1):c.819G>A (p.Ala273=) rs782165410 0.00002
NM_000033.4(ABCD1):c.820C>T (p.Arg274Trp) rs782760033 0.00002
NM_000033.4(ABCD1):c.854G>A (p.Arg285His) rs782635828 0.00002
NM_000033.4(ABCD1):c.901-4G>A rs782306934 0.00002
NM_000033.4(ABCD1):c.922C>T (p.Arg308Cys) rs782419107 0.00002
NM_000033.4(ABCD1):c.*287G>A rs1169661425 0.00001
NM_000033.4(ABCD1):c.*360C>T rs1281220823 0.00001
NM_000033.4(ABCD1):c.*530G>A rs67211405 0.00001
NM_000033.4(ABCD1):c.*621C>T rs1383766741 0.00001
NM_000033.4(ABCD1):c.1020C>T (p.Ser340=) rs781828983 0.00001
NM_000033.4(ABCD1):c.1026G>A (p.Ser342=) rs1557053246 0.00001
NM_000033.4(ABCD1):c.1071C>T (p.Tyr357=) rs200988373 0.00001
NM_000033.4(ABCD1):c.1081+8C>T rs782246846 0.00001
NM_000033.4(ABCD1):c.1138G>A (p.Glu380Lys) rs782007706 0.00001
NM_000033.4(ABCD1):c.1156A>T (p.Thr386Ser) rs1205548762 0.00001
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys) rs128624215 0.00001
NM_000033.4(ABCD1):c.1173C>T (p.Leu391=) rs1205664363 0.00001
NM_000033.4(ABCD1):c.1181C>T (p.Ala394Val) rs1324874967 0.00001
NM_000033.4(ABCD1):c.1182G>A (p.Ala394=) rs782515233 0.00001
NM_000033.4(ABCD1):c.1197T>C (p.Ile399=) rs143589488 0.00001
NM_000033.4(ABCD1):c.1225-9C>T rs371682640 0.00001
NM_000033.4(ABCD1):c.1228A>T (p.Thr410Ser) rs782161850 0.00001
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln) rs1046633404 0.00001
NM_000033.4(ABCD1):c.1257G>A (p.Val419=) rs1603234541 0.00001
NM_000033.4(ABCD1):c.1260C>A (p.His420Gln) rs782066367 0.00001
NM_000033.4(ABCD1):c.1261G>A (p.Glu421Lys) rs1255903649 0.00001
NM_000033.4(ABCD1):c.1291C>T (p.Arg431Cys) rs782598285 0.00001
NM_000033.4(ABCD1):c.1317G>A (p.Glu439=) rs200522486 0.00001
NM_000033.4(ABCD1):c.1335G>A (p.Ala445=) rs782339121 0.00001
NM_000033.4(ABCD1):c.1369G>C (p.Val457Leu) rs781866876 0.00001
NM_000033.4(ABCD1):c.1391G>A (p.Arg464Gln) rs138902450 0.00001
NM_000033.4(ABCD1):c.1393+9G>A rs1569541019 0.00001
NM_000033.4(ABCD1):c.1394-5T>C rs782336998 0.00001
NM_000033.4(ABCD1):c.1404G>A (p.Val468=) rs782072629 0.00001
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg) rs1569541033 0.00001
NM_000033.4(ABCD1):c.1440C>A (p.Pro480=) rs1557054320 0.00001
NM_000033.4(ABCD1):c.1443C>T (p.Ile481=) rs782704819 0.00001
NM_000033.4(ABCD1):c.1452C>G (p.Pro484=) rs782546330 0.00001
NM_000033.4(ABCD1):c.1489-18C>T rs1557054724 0.00001
NM_000033.4(ABCD1):c.1542C>T (p.Ser514=) rs149643908 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.1617G>A (p.Met539Ile) rs927479436 0.00001
NM_000033.4(ABCD1):c.1680G>A (p.Pro560=) rs782005164 0.00001
NM_000033.4(ABCD1):c.1716G>A (p.Ser572=) rs1482177539 0.00001
NM_000033.4(ABCD1):c.1744G>A (p.Val582Ile) rs76180859 0.00001
NM_000033.4(ABCD1):c.1746C>T (p.Val582=) rs1557054863 0.00001
NM_000033.4(ABCD1):c.1749G>A (p.Val583=) rs1557054868 0.00001
NM_000033.4(ABCD1):c.1755G>A (p.Leu585=) rs2091764918 0.00001
NM_000033.4(ABCD1):c.1781-9C>T rs1447645678 0.00001
NM_000033.4(ABCD1):c.1817C>T (p.Ser606Leu) rs128624225 0.00001
NM_000033.4(ABCD1):c.1865+8C>T rs374985703 0.00001
NM_000033.4(ABCD1):c.1866-11C>T rs782126372 0.00001
NM_000033.4(ABCD1):c.1893C>T (p.Cys631=) rs1557055319 0.00001
NM_000033.4(ABCD1):c.1915G>A (p.Val639Met) rs782706738 0.00001
NM_000033.4(ABCD1):c.1947C>T (p.Asp649=) rs1483248084 0.00001
NM_000033.4(ABCD1):c.1960C>T (p.Leu654=) rs782809410 0.00001
NM_000033.4(ABCD1):c.1991+8C>T rs2091774199 0.00001
NM_000033.4(ABCD1):c.2022T>C (p.Asp674=) rs2091775214 0.00001
NM_000033.4(ABCD1):c.2111C>T (p.Ala704Val) rs782740513 0.00001
NM_000033.4(ABCD1):c.2131C>T (p.Arg711Trp) rs782583464 0.00001
NM_000033.4(ABCD1):c.2134C>T (p.Arg712Cys) rs1557055441 0.00001
NM_000033.4(ABCD1):c.2189C>T (p.Pro730Leu) rs375489051 0.00001
NM_000033.4(ABCD1):c.2209C>T (p.Pro737Ser) rs1290462360 0.00001
NM_000033.4(ABCD1):c.225C>T (p.Leu75=) rs781883009 0.00001
NM_000033.4(ABCD1):c.234C>T (p.Leu78=) rs940741241 0.00001
NM_000033.4(ABCD1):c.252C>T (p.Pro84=) rs1557052276 0.00001
NM_000033.4(ABCD1):c.297C>T (p.Ala99=) rs889405096 0.00001
NM_000033.4(ABCD1):c.300C>G (p.Ala100=) rs782098898 0.00001
NM_000033.4(ABCD1):c.326T>C (p.Val109Ala) rs782138372 0.00001
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys) rs1557052306 0.00001
NM_000033.4(ABCD1):c.345C>T (p.Asp115=) rs1557052311 0.00001
NM_000033.4(ABCD1):c.403C>T (p.Leu135=) rs1448083307 0.00001
NM_000033.4(ABCD1):c.483G>A (p.Ser161=) rs369052808 0.00001
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr) rs782293513 0.00001
NM_000033.4(ABCD1):c.528C>G (p.Ser176=) rs1557052393 0.00001
NM_000033.4(ABCD1):c.561C>T (p.Asp187=) rs781987852 0.00001
NM_000033.4(ABCD1):c.57C>G (p.Ala19=) rs1603231679 0.00001
NM_000033.4(ABCD1):c.663C>T (p.Asp221=) rs1557052447 0.00001
NM_000033.4(ABCD1):c.668C>T (p.Ala223Val) rs782230740 0.00001
NM_000033.4(ABCD1):c.66G>T (p.Leu22=) rs1557052169 0.00001
NM_000033.4(ABCD1):c.673A>G (p.Thr225Ala) rs1557052459 0.00001
NM_000033.4(ABCD1):c.675T>C (p.Thr225=) rs1557052463 0.00001
NM_000033.4(ABCD1):c.692G>A (p.Arg231Gln) rs782143050 0.00001
NM_000033.4(ABCD1):c.714C>T (p.Ala238=) rs781906112 0.00001
NM_000033.4(ABCD1):c.729C>G (p.Pro243=) rs1557052503 0.00001
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr) rs782487174 0.00001
NM_000033.4(ABCD1):c.756C>A (p.Phe252Leu) rs200849757 0.00001
NM_000033.4(ABCD1):c.776G>A (p.Arg259Gln) rs200191405 0.00001
NM_000033.4(ABCD1):c.786G>A (p.Ser262=) rs1020447716 0.00001
NM_000033.4(ABCD1):c.809C>T (p.Ala270Val) rs781970988 0.00001
NM_000033.4(ABCD1):c.818C>T (p.Ala273Val) rs868992338 0.00001
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp) rs782083931 0.00001
NM_000033.4(ABCD1):c.853C>T (p.Arg285Cys) rs782334088 0.00001
NM_000033.4(ABCD1):c.881C>T (p.Ala294Val) rs2091712106 0.00001
NM_000033.4(ABCD1):c.906G>A (p.Glu302=) rs782178199 0.00001
NM_000033.4(ABCD1):c.923G>A (p.Arg308His) rs781978255 0.00001
NM_000033.4(ABCD1):c.944C>T (p.Ser315Leu) rs782726660 0.00001
NM_000033.4(ABCD1):c.960C>T (p.Ile320=) rs1557053225 0.00001
NC_000023.10:g.(?_152990712)_(153009199_?)dup
NC_000023.10:g.(?_152990722)_(153009189_?)del
NC_000023.10:g.(?_152991389)_(152991912_?)del
NC_000023.10:g.(?_152991573)_(152995898_?)del
NC_000023.10:g.(?_152994617)_(153006193_?)del
NC_000023.10:g.(?_152994667)_(152994887_?)del
NC_000023.10:g.(?_152994830)_(153000530_?)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.(?_153002694)_153020558del
NC_000023.10:g.(?_153005526)_(153009189_?)del
NC_000023.10:g.(?_153005725)_(153006804_?)del
NC_000023.10:g.(?_153006133)_(153007471_?)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.*10C>T rs1057515814
NM_000033.4(ABCD1):c.*12C>T rs1413638807
NM_000033.4(ABCD1):c.*196C>G rs367591611
NM_000033.4(ABCD1):c.*208G>C rs193922092
NM_000033.4(ABCD1):c.*259A>G rs374092960
NM_000033.4(ABCD1):c.*334C>G rs1252368354
NM_000033.4(ABCD1):c.*409C>G rs2091778411
NM_000033.4(ABCD1):c.*476A>G rs372234126
NM_000033.4(ABCD1):c.*481G>T rs199942817
NM_000033.4(ABCD1):c.*548GAGAGGG[1] rs1057515816
NM_000033.4(ABCD1):c.*564G>A rs782819878
NM_000033.4(ABCD1):c.*795C>T rs1057515817
NM_000033.4(ABCD1):c.*802G>T rs879957599
NM_000033.4(ABCD1):c.*805G>C rs879979866
NM_000033.4(ABCD1):c.*825C>T rs1557055736
NM_000033.4(ABCD1):c.*830A>G rs1557055737
NM_000033.4(ABCD1):c.*831G>T rs879964075
NM_000033.4(ABCD1):c.*870G>T rs72616452
NM_000033.4(ABCD1):c.*901G>A rs75637470
NM_000033.4(ABCD1):c.*911G>A rs2091780866
NM_000033.4(ABCD1):c.*948C>T rs112109783
NM_000033.4(ABCD1):c.*969A>G rs1557055778
NM_000033.4(ABCD1):c.*980T>C rs1557055787
NM_000033.4(ABCD1):c.-16_10del (p.Met1fs) rs387906497
NM_000033.4(ABCD1):c.-20C>T rs782004770
NM_000033.4(ABCD1):c.1002C>G (p.Leu334=) rs2148392000
NM_000033.4(ABCD1):c.1002del (p.Leu334_Met335insTer)
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
NM_000033.4(ABCD1):c.1010A>G (p.Tyr337Cys) rs2091726692
NM_000033.4(ABCD1):c.1014G>A (p.Val338=)
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg) rs1603233120
NM_000033.4(ABCD1):c.1016G>A (p.Trp339Ter)
NM_000033.4(ABCD1):c.1019G>A (p.Ser340Asn)
NM_000033.4(ABCD1):c.1020C>A (p.Ser340Arg)
NM_000033.4(ABCD1):c.1021G>A (p.Ala341Thr) rs782492154
NM_000033.4(ABCD1):c.1021G>T (p.Ala341Ser) rs782492154
NM_000033.4(ABCD1):c.1025C>T (p.Ser342Leu)
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.1029C>T (p.Gly343=)
NM_000033.4(ABCD1):c.102del (p.Leu35fs) rs2148388645
NM_000033.4(ABCD1):c.1031T>C (p.Leu344Pro) rs2148392029
NM_000033.4(ABCD1):c.1035C>T (p.Leu345=) rs2148392032
NM_000033.4(ABCD1):c.1036A>G (p.Met346Val)
NM_000033.4(ABCD1):c.1047C>T (p.Val349=) rs185931852
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
NM_000033.4(ABCD1):c.1050C>T (p.Pro350=)
NM_000033.4(ABCD1):c.1053C>T (p.Ile351=) rs1887821307
NM_000033.4(ABCD1):c.1059T>C (p.Thr353=) rs2148392053
NM_000033.4(ABCD1):c.1062del (p.Thr355fs)
NM_000033.4(ABCD1):c.1072T>C (p.Ser358Pro)
NM_000033.4(ABCD1):c.1074dup (p.Glu359fs)
NM_000033.4(ABCD1):c.1075G>A (p.Glu359Lys)
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
NM_000033.4(ABCD1):c.1076_1077del (p.Glu359fs) rs1569540883
NM_000033.4(ABCD1):c.1077G>A (p.Glu359=)
NM_000033.4(ABCD1):c.107T>C (p.Val36Ala)
NM_000033.4(ABCD1):c.1081+13G>A
NM_000033.4(ABCD1):c.1081+13G>C
NM_000033.4(ABCD1):c.1081+1G>A rs2091727061
NM_000033.4(ABCD1):c.1081+1G>C
NM_000033.4(ABCD1):c.1081+20G>C
NM_000033.4(ABCD1):c.1081+5G>T
NM_000033.4(ABCD1):c.1081+9_1081+10insCAAG rs2148392098
NM_000033.4(ABCD1):c.1081G>T (p.Asp361Tyr)
NM_000033.4(ABCD1):c.1082-12G>A rs2148395344
NM_000033.4(ABCD1):c.1082-13T>C rs2148395341
NM_000033.4(ABCD1):c.1082-13T>G
NM_000033.4(ABCD1):c.1082-14C>G
NM_000033.4(ABCD1):c.1082-15T>A
NM_000033.4(ABCD1):c.1082-15T>C
NM_000033.4(ABCD1):c.1082-15T>G
NM_000033.4(ABCD1):c.1082-16C>T rs2148395336
NM_000033.4(ABCD1):c.1082-19C>G rs374337788
NM_000033.4(ABCD1):c.1082-19C>T
NM_000033.4(ABCD1):c.1082-1G>A rs1557054153
NM_000033.4(ABCD1):c.1082-20A>C
NM_000033.4(ABCD1):c.1082-20A>G
NM_000033.4(ABCD1):c.1082-4G>A rs1557054152
NM_000033.4(ABCD1):c.1082-7T>G
NM_000033.4(ABCD1):c.1082-8C>T
NM_000033.4(ABCD1):c.1083T>C (p.Asp361=)
NM_000033.4(ABCD1):c.1089G>A (p.Glu363=)
NM_000033.4(ABCD1):c.108G>T (p.Val36=)
NM_000033.4(ABCD1):c.1091C>G (p.Ala364Gly)
NM_000033.4(ABCD1):c.1092C>G (p.Ala364=) rs782250326
NM_000033.4(ABCD1):c.1092_1093insTTTGCAG (p.Val365fs)
NM_000033.4(ABCD1):c.1093G>A (p.Val365Met) rs782518797
NM_000033.4(ABCD1):c.1093G>C (p.Val365Leu)
NM_000033.4(ABCD1):c.1094T>A (p.Val365Glu)
NM_000033.4(ABCD1):c.1096A>T (p.Lys366Ter) rs1569541000
NM_000033.4(ABCD1):c.1098G>A (p.Lys366=)
NM_000033.4(ABCD1):c.1099A>G (p.Lys367Glu)
NM_000033.4(ABCD1):c.109C>T (p.Arg37Cys)
NM_000033.4(ABCD1):c.10dup (p.Leu4fs) rs2091702447
NM_000033.4(ABCD1):c.1101_1108dup (p.Leu370fs) rs1603234451
NM_000033.4(ABCD1):c.1107C>T (p.Ala369=) rs2148395382
NM_000033.4(ABCD1):c.1111del (p.Glu371fs)
NM_000033.4(ABCD1):c.1114AAG[1] (p.Lys373del) rs782627940
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
NM_000033.4(ABCD1):c.1119G>A (p.Lys373=)
NM_000033.4(ABCD1):c.1120G>A (p.Glu374Lys)
NM_000033.4(ABCD1):c.1122G>A (p.Glu374=)
NM_000033.4(ABCD1):c.1126G>A (p.Glu376Lys)
NM_000033.4(ABCD1):c.1126G>C (p.Glu376Gln)
NM_000033.4(ABCD1):c.1126G>T (p.Glu376Ter) rs782266592
NM_000033.4(ABCD1):c.1126del (p.Glu376fs)
NM_000033.4(ABCD1):c.1138G>T (p.Glu380Ter) rs782007706
NM_000033.4(ABCD1):c.1141_1142delinsTT (p.Arg381Phe)
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro) rs1603234466
NM_000033.4(ABCD1):c.1145C>G (p.Thr382Arg) rs2148395416
NM_000033.4(ABCD1):c.1146A>G (p.Thr382=)
NM_000033.4(ABCD1):c.114G>A (p.Gln38=) rs2148388662
NM_000033.4(ABCD1):c.1156A>C (p.Thr386Pro) rs1205548762
NM_000033.4(ABCD1):c.1157C>G (p.Thr386Ser) rs1603234474
NM_000033.4(ABCD1):c.1158T>A (p.Thr386=)
NM_000033.4(ABCD1):c.1162G>C (p.Ala388Pro) rs2091749101
NM_000033.4(ABCD1):c.1164C>T (p.Ala388=) rs2148395439
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.1167C>T (p.Arg389=)
NM_000033.4(ABCD1):c.1170CCT[1] (p.Leu392del)
NM_000033.4(ABCD1):c.1171_1178del (p.Leu391fs)
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.1174C>G (p.Leu392Val)
NM_000033.4(ABCD1):c.1179A>C (p.Thr393=) rs781904354
NM_000033.4(ABCD1):c.1179A>G (p.Thr393=) rs781904354
NM_000033.4(ABCD1):c.1179_1180del (p.Ala394fs)
NM_000033.4(ABCD1):c.117C>T (p.Cys39=) rs1557052192
NM_000033.4(ABCD1):c.1182G>T (p.Ala394=) rs782515233
NM_000033.4(ABCD1):c.1183G>C (p.Ala395Pro) rs1557054176
NM_000033.4(ABCD1):c.1184C>T (p.Ala395Val) rs2148395465
NM_000033.4(ABCD1):c.1185T>C (p.Ala395=)
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr) rs1569541006
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.1198G>A (p.Glu400Lys) rs2091749296
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.1207A>G (p.Met403Val)
NM_000033.4(ABCD1):c.1211C>T (p.Ser404Leu)
NM_000033.4(ABCD1):c.1211CGT[1] (p.Ser405del) rs2148395492
NM_000033.4(ABCD1):c.1212G>C (p.Ser404=) rs375656638
NM_000033.4(ABCD1):c.1212G>T (p.Ser404=)
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
NM_000033.4(ABCD1):c.1215G>C (p.Ser405=)
NM_000033.4(ABCD1):c.1219A>T (p.Lys407Ter) rs1603234501
NM_000033.4(ABCD1):c.121dup (p.Ala41fs)
NM_000033.4(ABCD1):c.1222G>T (p.Glu408Ter)
NM_000033.4(ABCD1):c.1224+20A>C
NM_000033.4(ABCD1):c.1224+2T>A
NM_000033.4(ABCD1):c.1224+4C>T
NM_000033.4(ABCD1):c.1224+7C>T
NM_000033.4(ABCD1):c.1224+8del rs1440978011
NM_000033.4(ABCD1):c.1224G>A (p.Glu408=) rs2148395507
NM_000033.4(ABCD1):c.1225-10C>T rs2148395562
NM_000033.4(ABCD1):c.1225-11C>A
NM_000033.4(ABCD1):c.1225-15G>A
NM_000033.4(ABCD1):c.1225-7C>T rs2091749716
NM_000033.4(ABCD1):c.1225-7_1239del rs1569541009
NM_000033.4(ABCD1):c.1229C>T (p.Thr410Met)
NM_000033.4(ABCD1):c.1233G>C (p.Glu411Asp)
NM_000033.4(ABCD1):c.1237G>C (p.Ala413Pro) rs1569541011
NM_000033.4(ABCD1):c.123C>A (p.Ala41=) rs2091703479
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
NM_000033.4(ABCD1):c.1244A>G (p.Tyr415Cys)
NM_000033.4(ABCD1):c.1246A>G (p.Thr416Ala) rs2091749822
NM_000033.4(ABCD1):c.1247C>A (p.Thr416Lys) rs2091749844
NM_000033.4(ABCD1):c.1247C>G (p.Thr416Arg) rs2091749844
NM_000033.4(ABCD1):c.1251C>T (p.Ala417=)
NM_000033.4(ABCD1):c.1252C>G (p.Arg418Gly)
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp) rs128624220
NM_000033.4(ABCD1):c.1253G>C (p.Arg418Pro)
NM_000033.4(ABCD1):c.1255G>A (p.Val419Met)
NM_000033.4(ABCD1):c.1255G>C (p.Val419Leu)
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
NM_000033.4(ABCD1):c.1259A>T (p.His420Leu) rs2091749942
NM_000033.4(ABCD1):c.125C>T (p.Pro42Leu)
NM_000033.4(ABCD1):c.125del (p.Pro42fs) rs2148388674
NM_000033.4(ABCD1):c.1260C>T (p.His420=)
NM_000033.4(ABCD1):c.1263G>A (p.Glu421=) rs2148395615
NM_000033.4(ABCD1):c.1270C>T (p.Gln424Ter) rs1557054210
NM_000033.4(ABCD1):c.1272G>A (p.Gln424=)
NM_000033.4(ABCD1):c.1273G>A (p.Val425Ile)
NM_000033.4(ABCD1):c.1281A>T (p.Glu427Asp) rs2148395625
NM_000033.4(ABCD1):c.1287del (p.Gln430fs)
NM_000033.4(ABCD1):c.1288C>T (p.Gln430Ter) rs797044726
NM_000033.4(ABCD1):c.1290G>A (p.Gln430=) rs2148395631
NM_000033.4(ABCD1):c.1292G>A (p.Arg431His)
NM_000033.4(ABCD1):c.1295G>A (p.Cys432Tyr)
NM_000033.4(ABCD1):c.1296T>C (p.Cys432=)
NM_000033.4(ABCD1):c.1297C>G (p.His433Asp) rs2091750125
NM_000033.4(ABCD1):c.1299C>T (p.His433=)
NM_000033.4(ABCD1):c.129C>G (p.Ala43=) rs2148388691
NM_000033.4(ABCD1):c.12C>G (p.Leu4=) rs2148388518
NM_000033.4(ABCD1):c.12C>T (p.Leu4=) rs2148388518
NM_000033.4(ABCD1):c.1320A>G (p.Leu440=) rs1381466544
NM_000033.4(ABCD1):c.1324_1327dup (p.Ala443fs) rs2148395658
NM_000033.4(ABCD1):c.1326C>G (p.Asp442Glu)
NM_000033.4(ABCD1):c.1326C>T (p.Asp442=) rs782419455
NM_000033.4(ABCD1):c.1329T>C (p.Ala443=) rs2148395665
NM_000033.4(ABCD1):c.1338G>C (p.Gly446=)
NM_000033.4(ABCD1):c.1350A>G (p.Ile450Met)
NM_000033.4(ABCD1):c.1354C>A (p.Arg452=) rs368061976
NM_000033.4(ABCD1):c.1356G>A (p.Arg452=) rs2148395685
NM_000033.4(ABCD1):c.1359del (p.Gly454fs) rs1603234574
NM_000033.4(ABCD1):c.1366C>T (p.Arg456Cys)
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs) rs193922093
NM_000033.4(ABCD1):c.1367G>A (p.Arg456His) rs782159028
NM_000033.4(ABCD1):c.1367G>C (p.Arg456Pro)
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
NM_000033.4(ABCD1):c.1377C>G (p.Gly459=) rs1557054238
NM_000033.4(ABCD1):c.1377C>T (p.Gly459=)
NM_000033.4(ABCD1):c.1382del (p.Leu461fs)
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter) rs128624221
NM_000033.4(ABCD1):c.1393+13C>A
NM_000033.4(ABCD1):c.1393+14C>T
NM_000033.4(ABCD1):c.1393+1G>A
NM_000033.4(ABCD1):c.1393+8T>C rs2091750670
NM_000033.4(ABCD1):c.1393+8_1393+9delinsGT
NM_000033.4(ABCD1):c.1393+9G>T
NM_000033.4(ABCD1):c.1393G>A (p.Gly465Ser)
NM_000033.4(ABCD1):c.1394-10G>A
NM_000033.4(ABCD1):c.1394-10G>C
NM_000033.4(ABCD1):c.1394-10_1394-9del rs2148396014
NM_000033.4(ABCD1):c.1394-15G>A
NM_000033.4(ABCD1):c.1394-17C>T
NM_000033.4(ABCD1):c.1394-18G>A
NM_000033.4(ABCD1):c.1394-18G>T
NM_000033.4(ABCD1):c.1394-19C>T
NM_000033.4(ABCD1):c.1394-2A>G
NM_000033.4(ABCD1):c.1394-2_1404del
NM_000033.4(ABCD1):c.1394-3C>G
NM_000033.4(ABCD1):c.1394G>A (p.Gly465Asp)
NM_000033.4(ABCD1):c.1395C>T (p.Gly465=)
NM_000033.4(ABCD1):c.1396C>T (p.Gln466Ter) rs398123100
NM_000033.4(ABCD1):c.1401G>A (p.Val467=) rs1603234733
NM_000033.4(ABCD1):c.1405G>C (p.Asp469His)
NM_000033.4(ABCD1):c.1414C>T (p.Gln472Ter) rs2091752744
NM_000033.4(ABCD1):c.1414dup (p.Gln472fs)
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs) rs387906494
NM_000033.4(ABCD1):c.1419G>A (p.Gly473=) rs2148396042
NM_000033.4(ABCD1):c.1419G>C (p.Gly473=)
NM_000033.4(ABCD1):c.141G>A (p.Gln47=)
NM_000033.4(ABCD1):c.1428C>G (p.Cys476Trp)
NM_000033.4(ABCD1):c.1428C>T (p.Cys476=) rs141446687
NM_000033.4(ABCD1):c.1429G>A (p.Glu477Lys)
NM_000033.4(ABCD1):c.1429G>T (p.Glu477Ter) rs128624222
NM_000033.4(ABCD1):c.1430del (p.Glu477fs) rs2148396057
NM_000033.4(ABCD1):c.1431G>A (p.Glu477=)
NM_000033.4(ABCD1):c.1432A>T (p.Asn478Tyr)
NM_000033.4(ABCD1):c.1434C>T (p.Asn478=) rs2148396060
NM_000033.4(ABCD1):c.1437C>T (p.Ile479=)
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)
NM_000033.4(ABCD1):c.1440del (p.Ile481fs) rs1557054318
NM_000033.4(ABCD1):c.1441A>G (p.Ile481Val)
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr) rs2148396070
NM_000033.4(ABCD1):c.1447dup (p.Thr483fs)
NM_000033.4(ABCD1):c.1448C>T (p.Thr483Met) rs1569541035
NM_000033.4(ABCD1):c.1449G>A (p.Thr483=) rs1453531275
NM_000033.4(ABCD1):c.144G>A (p.Ala48=) rs1557052209
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)
NM_000033.4(ABCD1):c.1451C>G (p.Pro484Arg) rs128624214
NM_000033.4(ABCD1):c.1454C>A (p.Ser485Ter)
NM_000033.4(ABCD1):c.1454C>G (p.Ser485Ter) rs1603234759
NM_000033.4(ABCD1):c.1457del (p.Gly486fs)
NM_000033.4(ABCD1):c.1458A>G (p.Gly486=) rs2091753037
NM_000033.4(ABCD1):c.1464G>C (p.Val488=) rs2148396096
NM_000033.4(ABCD1):c.146_159del (p.Pro49fs) rs1569540676
NM_000033.4(ABCD1):c.1476C>T (p.Ser492=) rs2148396110
NM_000033.4(ABCD1):c.1477C>G (p.Leu493Val)
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
NM_000033.4(ABCD1):c.147C>T (p.Pro49=) rs782397391
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn) rs2091753125
NM_000033.4(ABCD1):c.1485C>T (p.Ile495=) rs1557054328
NM_000033.4(ABCD1):c.1487G>C (p.Arg496Thr)
NM_000033.4(ABCD1):c.1488+10G>A rs1847185945
NM_000033.4(ABCD1):c.1488+12G>A
NM_000033.4(ABCD1):c.1488+17G>C
NM_000033.4(ABCD1):c.1488+1G>A rs2091753176
NM_000033.4(ABCD1):c.1488+20C>G
NM_000033.4(ABCD1):c.1488+5G>A
NM_000033.4(ABCD1):c.1488+5G>C rs2091753189
NM_000033.4(ABCD1):c.1488+7C>T
NM_000033.4(ABCD1):c.1488+9A>G rs1603234781
NM_000033.4(ABCD1):c.1489-10G>A
NM_000033.4(ABCD1):c.1489-14T>C
NM_000033.4(ABCD1):c.1489-17G>A
NM_000033.4(ABCD1):c.1489-17G>C rs375632296
NM_000033.4(ABCD1):c.1489-18C>A
NM_000033.4(ABCD1):c.1489-1G>A rs1603235263
NM_000033.4(ABCD1):c.1489-1G>T
NM_000033.4(ABCD1):c.1489-20A>G
NM_000033.4(ABCD1):c.1489-24C>G rs149185761
NM_000033.4(ABCD1):c.1489-2A>G
NM_000033.4(ABCD1):c.1489-4G>C rs1318153626
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1489-9C>A rs782323354
NM_000033.4(ABCD1):c.1489-9C>T
NM_000033.4(ABCD1):c.148G>A (p.Ala50Thr)
NM_000033.4(ABCD1):c.1490T>G (p.Val497Gly)
NM_000033.4(ABCD1):c.1494G>A (p.Glu498=) rs2091762206
NM_000033.4(ABCD1):c.1500dup (p.Met501fs)
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu) rs1603235267
NM_000033.4(ABCD1):c.1501_1510del (p.Met501fs) rs2148397523
NM_000033.4(ABCD1):c.1502T>G (p.Met501Arg)
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro) rs2091762267
NM_000033.4(ABCD1):c.1508del (p.Leu503fs)
NM_000033.4(ABCD1):c.150C>T (p.Ala50=) rs1932354237
NM_000033.4(ABCD1):c.1511T>C (p.Leu504Pro)
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
NM_000033.4(ABCD1):c.1514T>C (p.Ile505Thr) rs1557054740
NM_000033.4(ABCD1):c.1516A>G (p.Thr506Ala)
NM_000033.4(ABCD1):c.1517C>G (p.Thr506Arg)
NM_000033.4(ABCD1):c.1517C>T (p.Thr506Ile) rs2091762306
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser) rs2148397545
NM_000033.4(ABCD1):c.151G>A (p.Gly51Arg)
NM_000033.4(ABCD1):c.1520G>A (p.Gly507Asp)
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
NM_000033.4(ABCD1):c.1523C>A (p.Pro508His) rs1569541087
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.1529del (p.Gly510fs) rs2091762383
NM_000033.4(ABCD1):c.1530del (p.Cys511fs)
NM_000033.4(ABCD1):c.1531T>C (p.Cys511Arg)
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.1533C>G (p.Cys511Trp) rs782370364
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.1544C>T (p.Ser515Phe) rs128624223
NM_000033.4(ABCD1):c.1547T>C (p.Leu516Pro)
NM_000033.4(ABCD1):c.1547_1548inv (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.1552del (p.Arg518fs) rs387906495
NM_000033.4(ABCD1):c.1554G>A (p.Arg518=)
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.1569C>G (p.Leu523=) rs2148397606
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
NM_000033.4(ABCD1):c.1573C>A (p.Pro525Thr)
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
NM_000033.4(ABCD1):c.1577C>G (p.Thr526Arg) rs2091762670
NM_000033.4(ABCD1):c.1578G>A (p.Thr526=) rs2091762690
NM_000033.4(ABCD1):c.1586G>T (p.Gly529Val)
NM_000033.4(ABCD1):c.1591C>T (p.Leu531Phe) rs2148397623
NM_000033.4(ABCD1):c.1596C>T (p.Tyr532=) rs2148397628
NM_000033.4(ABCD1):c.1599G>T (p.Lys533Asn) rs1569541092
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
NM_000033.4(ABCD1):c.1604del (p.Pro535fs)
NM_000033.4(ABCD1):c.1605A>G (p.Pro535=) rs2091762849
NM_000033.4(ABCD1):c.1608C>T (p.Pro536=)
NM_000033.4(ABCD1):c.1611G>C (p.Gln537His)
NM_000033.4(ABCD1):c.1615A>C (p.Met539Leu)
NM_000033.4(ABCD1):c.1615A>G (p.Met539Val) rs782440686
NM_000033.4(ABCD1):c.1615_1616dup (p.Met539fs)
NM_000033.4(ABCD1):c.1618T>C (p.Phe540Leu)
NM_000033.4(ABCD1):c.161C>T (p.Thr54Met)
NM_000033.4(ABCD1):c.1620C>G (p.Phe540Leu)
NM_000033.4(ABCD1):c.1622A>G (p.Tyr541Cys) rs2148397662
NM_000033.4(ABCD1):c.1623C>T (p.Tyr541=)
NM_000033.4(ABCD1):c.1625T>C (p.Ile542Thr)
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.1628del (p.Pro543fs) rs1603235321
NM_000033.4(ABCD1):c.1629G>T (p.Pro543=)
NM_000033.4(ABCD1):c.162G>A (p.Thr54=)
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg) rs2091763089
NM_000033.4(ABCD1):c.1634+11C>G
NM_000033.4(ABCD1):c.1634+13G>A
NM_000033.4(ABCD1):c.1634+16C>T
NM_000033.4(ABCD1):c.1634+17G>A
NM_000033.4(ABCD1):c.1634+1G>A rs1569541096
NM_000033.4(ABCD1):c.1634+1G>C
NM_000033.4(ABCD1):c.1634+1G>T
NM_000033.4(ABCD1):c.1634+9G>A rs2148397684
NM_000033.4(ABCD1):c.1635-1G>A rs1603235389
NM_000033.4(ABCD1):c.1635-2A>G rs1569541109
NM_000033.4(ABCD1):c.1635-3C>G rs2148397866
NM_000033.4(ABCD1):c.1635G>A (p.Arg545=)
NM_000033.4(ABCD1):c.1637C>T (p.Pro546Leu) rs1603235394
NM_000033.4(ABCD1):c.163C>T (p.Gln55Ter)
NM_000033.4(ABCD1):c.1640A>G (p.Tyr547Cys)
NM_000033.4(ABCD1):c.1642A>G (p.Met548Val) rs201054474
NM_000033.4(ABCD1):c.1642_1643del (p.Met548fs)
NM_000033.4(ABCD1):c.1644G>A (p.Met548Ile) rs1569541112
NM_000033.4(ABCD1):c.1651G>T (p.Gly551Cys) rs2148397892
NM_000033.4(ABCD1):c.1652G>A (p.Gly551Asp) rs2148397896
NM_000033.4(ABCD1):c.1652G>T (p.Gly551Val)
NM_000033.4(ABCD1):c.1657C>G (p.Leu553Val) rs2148397902
NM_000033.4(ABCD1):c.1657C>T (p.Leu553=) rs2148397902
NM_000033.4(ABCD1):c.1657del (p.Leu553fs) rs2148397899
NM_000033.4(ABCD1):c.1659G>A (p.Leu553=)
NM_000033.4(ABCD1):c.1660C>T (p.Arg554Cys)
NM_000033.4(ABCD1):c.1660dup (p.Arg554fs) rs1569541115
NM_000033.4(ABCD1):c.1661G>A (p.Arg554His) rs201568579
NM_000033.4(ABCD1):c.1663G>T (p.Asp555Tyr)
NM_000033.4(ABCD1):c.1666C>T (p.Gln556Ter)
NM_000033.4(ABCD1):c.1667A>G (p.Gln556Arg)
NM_000033.4(ABCD1):c.1668G>T (p.Gln556His) rs2091764450
NM_000033.4(ABCD1):c.1670T>C (p.Val557Ala)
NM_000033.4(ABCD1):c.1671G>T (p.Val557=)
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His) rs2091764510
NM_000033.4(ABCD1):c.1677C>A (p.Tyr559Ter) rs2148397922
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.1679C>T (p.Pro560Leu) rs398123105
NM_000033.4(ABCD1):c.1679_1683del (p.Pro560fs)
NM_000033.4(ABCD1):c.1681G>A (p.Asp561Asn) rs2091764566
NM_000033.4(ABCD1):c.1681G>T (p.Asp561Tyr)
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1684T>A (p.Ser562Thr) rs2091764595
NM_000033.4(ABCD1):c.1684T>C (p.Ser562Pro) rs2091764595
NM_000033.4(ABCD1):c.1692G>A (p.Glu564=)
NM_000033.4(ABCD1):c.1695del (p.Asp565fs) rs2091764622
NM_000033.4(ABCD1):c.1696A>G (p.Met566Val)
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr) rs2148397936
NM_000033.4(ABCD1):c.1699C>T (p.Gln567Ter) rs201114595
NM_000033.4(ABCD1):c.169G>A (p.Ala57Thr)
NM_000033.4(ABCD1):c.16_22delinsCT (p.Arg6fs) rs1557052133
NM_000033.4(ABCD1):c.1706A>G (p.Lys569Arg) rs2091764661
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
NM_000033.4(ABCD1):c.1715C>T (p.Ser572Leu)
NM_000033.4(ABCD1):c.1716G>T (p.Ser572=) rs1482177539
NM_000033.4(ABCD1):c.1719G>A (p.Glu573=) rs2148397951
NM_000033.4(ABCD1):c.171C>T (p.Ala57=) rs782317790
NM_000033.4(ABCD1):c.1720C>T (p.Gln574Ter) rs2148397954
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
NM_000033.4(ABCD1):c.1734C>T (p.Ala578=) rs782803612
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del) rs1603235421
NM_000033.4(ABCD1):c.173C>G (p.Ser58Cys)
NM_000033.4(ABCD1):c.173C>T (p.Ser58Phe) rs781943986
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del) rs2091764754
NM_000033.4(ABCD1):c.1742_1781-968del
NM_000033.4(ABCD1):c.1743CGT[1] (p.Val583del) rs1557054859
NM_000033.4(ABCD1):c.1746C>G (p.Val582=) rs1557054863
NM_000033.4(ABCD1):c.1748T>A (p.Val583Glu) rs79383557
NM_000033.4(ABCD1):c.1748T>C (p.Val583Ala)
NM_000033.4(ABCD1):c.1748dup (p.His584fs)
NM_000033.4(ABCD1):c.174C>A (p.Ser58=)
NM_000033.4(ABCD1):c.174C>T (p.Ser58=)
NM_000033.4(ABCD1):c.1753del (p.Leu585fs)
NM_000033.4(ABCD1):c.1763T>A (p.Ile588Asn) rs1569541122
NM_000033.4(ABCD1):c.1768C>T (p.Gln590Ter) rs2091765003
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.1772G>C (p.Arg591Pro)
NM_000033.4(ABCD1):c.1773G>A (p.Arg591=) rs2091765039
NM_000033.4(ABCD1):c.1773G>C (p.Arg591=)
NM_000033.4(ABCD1):c.1774G>A (p.Glu592Lys)
NM_000033.4(ABCD1):c.1778G>C (p.Gly593Ala)
NM_000033.4(ABCD1):c.177G>A (p.Gly59=) rs2148388761
NM_000033.4(ABCD1):c.1780+14G>A
NM_000033.4(ABCD1):c.1780+2T>G rs1557054875
NM_000033.4(ABCD1):c.1780+5_1780+6insT
NM_000033.4(ABCD1):c.1780+7G>A rs2148398011
NM_000033.4(ABCD1):c.1780G>C (p.Gly594Arg) rs2148398002
NM_000033.4(ABCD1):c.1781-10C>T
NM_000033.4(ABCD1):c.1781-15A>G
NM_000033.4(ABCD1):c.1781-16C>A
NM_000033.4(ABCD1):c.1781-16C>G
NM_000033.4(ABCD1):c.1781-16C>T rs781992192
NM_000033.4(ABCD1):c.1781-1G>C
NM_000033.4(ABCD1):c.1781-1G>T
NM_000033.4(ABCD1):c.1781-2A>G
NM_000033.4(ABCD1):c.1781-7C>T rs79915675
NM_000033.4(ABCD1):c.1781-7del
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.1788G>A (p.Glu596=)
NM_000033.4(ABCD1):c.1791T>C (p.Ala597=)
NM_000033.4(ABCD1):c.1792_1793del (p.Met598fs) rs2148398995
NM_000033.4(ABCD1):c.1792_1795del (p.Met598fs)
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
NM_000033.4(ABCD1):c.179T>C (p.Val60Ala)
NM_000033.4(ABCD1):c.1802G>A (p.Trp601Ter) rs398123107
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
NM_000033.4(ABCD1):c.1809C>T (p.Asp603=) rs1228301857
NM_000033.4(ABCD1):c.180C>A (p.Val60=)
NM_000033.4(ABCD1):c.180C>T (p.Val60=) rs2148388770
NM_000033.4(ABCD1):c.1812C>T (p.Val604=)
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro) rs2148399015
NM_000033.4(ABCD1):c.1815G>C (p.Leu605=)
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.1817C>A (p.Ser606Ter) rs128624225
NM_000033.4(ABCD1):c.1818G>C (p.Ser606=) rs140263823
NM_000033.4(ABCD1):c.181G>T (p.Ala61Ser)
NM_000033.4(ABCD1):c.1820G>A (p.Gly607Asp) rs2091772324
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs) rs1557055253
NM_000033.4(ABCD1):c.1821T>G (p.Gly607=)
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser) rs2091772331
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp) rs78993751
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala) rs78993751
NM_000033.4(ABCD1):c.1824C>A (p.Gly608=)
NM_000033.4(ABCD1):c.1824C>T (p.Gly608=)
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.1826A>G (p.Glu609Gly) rs1557055260
NM_000033.4(ABCD1):c.1830G>A (p.Lys610=)
NM_000033.4(ABCD1):c.1831C>G (p.Gln611Glu)
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.1850G>C (p.Arg617Pro)
NM_000033.4(ABCD1):c.1850G>T (p.Arg617Leu)
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr) rs2148399060
NM_000033.4(ABCD1):c.1853del (p.Met618fs) rs1603235941
NM_000033.4(ABCD1):c.1857C>A (p.Phe619Leu)
NM_000033.4(ABCD1):c.1860C>T (p.Tyr620=) rs2148399072
NM_000033.4(ABCD1):c.1865+17G>A rs377149542
NM_000033.4(ABCD1):c.1865+1G>A rs1569541198
NM_000033.4(ABCD1):c.1865+7A>G
NM_000033.4(ABCD1):c.1866-10G>A rs398123108
NM_000033.4(ABCD1):c.1866-10G>T rs398123108
NM_000033.4(ABCD1):c.1866-13C>T rs200238438
NM_000033.4(ABCD1):c.1866-14G>T
NM_000033.4(ABCD1):c.1866-15G>A
NM_000033.4(ABCD1):c.1866-16C>T
NM_000033.4(ABCD1):c.1866-18C>T
NM_000033.4(ABCD1):c.1866-19T>C
NM_000033.4(ABCD1):c.1866-1G>A rs1557055311
NM_000033.4(ABCD1):c.1866-1G>C rs1557055311
NM_000033.4(ABCD1):c.1866-2A>T
NM_000033.4(ABCD1):c.1866-4C>T rs2091773412
NM_000033.4(ABCD1):c.1866-7C>A
NM_000033.4(ABCD1):c.1866-7C>T rs1569541199
NM_000033.4(ABCD1):c.186G>A (p.Ala62=)
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)
NM_000033.4(ABCD1):c.1875C>T (p.Tyr625=) rs1557055315
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr) rs1557055316
NM_000033.4(ABCD1):c.1876_1877delinsTT (p.Ala626Phe)
NM_000033.4(ABCD1):c.1877C>T (p.Ala626Val)
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro) rs2148399201
NM_000033.4(ABCD1):c.1881C>T (p.Leu627=) rs782072619
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val) rs2148399208
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.1895C>T (p.Thr632Ile) rs1064793877
NM_000033.4(ABCD1):c.1899C>G (p.Ser633Arg) rs202125585
NM_000033.4(ABCD1):c.189C>G (p.Ala63=) rs781837108
NM_000033.4(ABCD1):c.189C>T (p.Ala63=)
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr) rs782041940
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
NM_000033.4(ABCD1):c.1904_1912del (p.Val635_Ile637del)
NM_000033.4(ABCD1):c.1905G>T (p.Val635=)
NM_000033.4(ABCD1):c.1907G>T (p.Ser636Ile) rs2091773697
NM_000033.4(ABCD1):c.1912G>A (p.Asp638Asn) rs886044887
NM_000033.4(ABCD1):c.1912G>C (p.Asp638His) rs886044887
NM_000033.4(ABCD1):c.1917G>A (p.Val639=)
NM_000033.4(ABCD1):c.1918G>A (p.Glu640Lys)
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly) rs1603236012
NM_000033.4(ABCD1):c.1920A>G (p.Glu640=) rs2148399250
NM_000033.4(ABCD1):c.1924A>G (p.Lys642Glu)
NM_000033.4(ABCD1):c.1928T>A (p.Ile643Asn)
NM_000033.4(ABCD1):c.1929C>A (p.Ile643=) rs2148399255
NM_000033.4(ABCD1):c.1932C>T (p.Phe644=) rs2148399261
NM_000033.4(ABCD1):c.1933del (p.Gln645fs) rs1603236013
NM_000033.4(ABCD1):c.1935G>A (p.Gln645=)
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
NM_000033.4(ABCD1):c.1941C>T (p.Ala647=) rs2148399272
NM_000033.4(ABCD1):c.1944G>A (p.Lys648=) rs2148399276
NM_000033.4(ABCD1):c.1945G>A (p.Asp649Asn)
NM_000033.4(ABCD1):c.1948G>A (p.Ala650Thr) rs1557055332
NM_000033.4(ABCD1):c.1948G>C (p.Ala650Pro) rs1557055332
NM_000033.4(ABCD1):c.1949C>T (p.Ala650Val) rs1557055333
NM_000033.4(ABCD1):c.1950G>C (p.Ala650=) rs74315281
NM_000033.4(ABCD1):c.1952G>T (p.Gly651Val) rs2091773987
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
NM_000033.4(ABCD1):c.1961T>C (p.Leu654Pro) rs2091774046
NM_000033.4(ABCD1):c.1961_1975dup (p.Leu654_Thr658dup) rs2091774003
NM_000033.4(ABCD1):c.1964T>A (p.Leu655His)
NM_000033.4(ABCD1):c.1965C>G (p.Leu655=)
NM_000033.4(ABCD1):c.1965C>T (p.Leu655=)
NM_000033.4(ABCD1):c.1966T>C (p.Ser656Pro) rs2148399307
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe) rs1603236020
NM_000033.4(ABCD1):c.1968C>T (p.Ser656=)
NM_000033.4(ABCD1):c.1972A>G (p.Thr658Ala) rs2148399309
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile) rs1557055337
NM_000033.4(ABCD1):c.1975C>T (p.His659Tyr) rs2091774102
NM_000033.4(ABCD1):c.1978C>T (p.Arg660Trp) rs1569541203
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln) rs1557055340
NM_000033.4(ABCD1):c.1979G>T (p.Arg660Leu) rs1557055340
NM_000033.4(ABCD1):c.1982C>T (p.Pro661Leu)
NM_000033.4(ABCD1):c.1983C>T (p.Pro661=)
NM_000033.4(ABCD1):c.1984T>C (p.Ser662Pro) rs2148399322
NM_000033.4(ABCD1):c.1986C>G (p.Ser662=) rs2148399324
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro) rs886044882
NM_000033.4(ABCD1):c.1988dup (p.Trp664fs) rs2148399327
NM_000033.4(ABCD1):c.198C>T (p.Gly66=)
NM_000033.4(ABCD1):c.1990dup (p.Trp664fs) rs2148399330
NM_000033.4(ABCD1):c.1991+10C>G
NM_000033.4(ABCD1):c.1991+14C>T
NM_000033.4(ABCD1):c.1991+1G>A
NM_000033.4(ABCD1):c.1991+3A>G
NM_000033.4(ABCD1):c.1991+68_1992-4del rs1603236039
NM_000033.4(ABCD1):c.1991G>A (p.Trp664Ter) rs2091774163
NM_000033.4(ABCD1):c.1992-10T>C rs2148399435
NM_000033.4(ABCD1):c.1992-2A>C rs797044626
NM_000033.4(ABCD1):c.1992-2A>G rs797044626
NM_000033.4(ABCD1):c.1992-4C>T
NM_000033.4(ABCD1):c.1992-6G>A
NM_000033.4(ABCD1):c.1992-8C>T rs1603236074
NM_000033.4(ABCD1):c.1992-9C>A
NM_000033.4(ABCD1):c.1992-9C>T rs1424057229
NM_000033.4(ABCD1):c.1993A>T (p.Lys665Ter)
NM_000033.4(ABCD1):c.1997A>C (p.Tyr666Ser) rs2091775035
NM_000033.4(ABCD1):c.1997A>G (p.Tyr666Cys) rs2091775035
NM_000033.4(ABCD1):c.1998C>A (p.Tyr666Ter) rs1170974058
NM_000033.4(ABCD1):c.1998C>G (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.1999C>T (p.His667Tyr) rs2091775068
NM_000033.4(ABCD1):c.19C>T (p.Pro7Ser)
NM_000033.4(ABCD1):c.1A>G (p.Met1Val) rs2091702389
NM_000033.4(ABCD1):c.2002A>C (p.Thr668Pro) rs1603236086
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.2006A>G (p.His669Arg) rs2091775127
NM_000033.4(ABCD1):c.2006_2007del (p.His669fs) rs797044625
NM_000033.4(ABCD1):c.2007C>G (p.His669Gln) rs2148399466
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs) rs1569541207
NM_000033.4(ABCD1):c.2011C>G (p.Leu671Val)
NM_000033.4(ABCD1):c.2012_2013dup (p.Gln672fs)
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
NM_000033.4(ABCD1):c.2017T>G (p.Phe673Val)
NM_000033.4(ABCD1):c.2019_2025dup (p.Glu676fs)
NM_000033.4(ABCD1):c.2020G>C (p.Asp674His)
NM_000033.4(ABCD1):c.2030dup (p.Gly678fs) rs2148399483
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg) rs1557055405
NM_000033.4(ABCD1):c.2043C>G (p.Phe681Leu) rs782327280
NM_000033.4(ABCD1):c.2043C>T (p.Phe681=) rs782327280
NM_000033.4(ABCD1):c.2044G>A (p.Glu682Lys)
NM_000033.4(ABCD1):c.2049G>A (p.Lys683=) rs1569541208
NM_000033.4(ABCD1):c.2050_2051delinsGG (p.Leu684Gly)
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro) rs2091775375
NM_000033.4(ABCD1):c.2053G>A (p.Asp685Asn)
NM_000033.4(ABCD1):c.2056T>G (p.Ser686Ala)
NM_000033.4(ABCD1):c.2066G>A (p.Arg689His)
NM_000033.4(ABCD1):c.2072G>C (p.Ser691Thr) rs2091775448
NM_000033.4(ABCD1):c.2073C>A (p.Ser691Arg)
NM_000033.4(ABCD1):c.2073C>G (p.Ser691Arg)
NM_000033.4(ABCD1):c.2076G>A (p.Leu692=) rs1557055415
NM_000033.4(ABCD1):c.2078C>T (p.Thr693Met) rs782311214
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
NM_000033.4(ABCD1):c.2082G>A (p.Glu694=) rs2148399523
NM_000033.4(ABCD1):c.2088G>A (p.Lys696=)
NM_000033.4(ABCD1):c.2089C>A (p.Gln697Lys)
NM_000033.4(ABCD1):c.208G>C (p.Val70Leu) rs782701925
NM_000033.4(ABCD1):c.208del (p.Val70fs)
NM_000033.4(ABCD1):c.209del (p.Val70fs)
NM_000033.4(ABCD1):c.2103G>A (p.Gln701=)
NM_000033.4(ABCD1):c.2106_2122del (p.Leu703fs)
NM_000033.4(ABCD1):c.2107C>T (p.Leu703=) rs2148399557
NM_000033.4(ABCD1):c.2112G>C (p.Ala704=)
NM_000033.4(ABCD1):c.2118T>A (p.Ile706=) rs1557055431
NM_000033.4(ABCD1):c.2120C>T (p.Pro707Leu)
NM_000033.4(ABCD1):c.2124G>A (p.Lys708=) rs1557055435
NM_000033.4(ABCD1):c.2127G>T (p.Met709Ile)
NM_000033.4(ABCD1):c.2132G>A (p.Arg711Gln)
NM_000033.4(ABCD1):c.2135G>A (p.Arg712His) rs1557055447
NM_000033.4(ABCD1):c.2136C>T (p.Arg712=)
NM_000033.4(ABCD1):c.2139C>T (p.Leu713=)
NM_000033.4(ABCD1):c.2148C>T (p.Leu716=)
NM_000033.4(ABCD1):c.214C>T (p.Leu72=) rs2148388808
NM_000033.4(ABCD1):c.2152C>T (p.Gln718Ter)
NM_000033.4(ABCD1):c.2157C>G (p.Ile719Met)
NM_000033.4(ABCD1):c.2160G>A (p.Leu720=)
NM_000033.4(ABCD1):c.2163C>G (p.Gly721=)
NM_000033.4(ABCD1):c.2163C>T (p.Gly721=)
NM_000033.4(ABCD1):c.2169C>G (p.Ala723=)
NM_000033.4(ABCD1):c.2178A>C (p.Pro726=) rs2148399612
NM_000033.4(ABCD1):c.2178A>G (p.Pro726=)
NM_000033.4(ABCD1):c.2178_2220del (p.Ala727fs)
NM_000033.4(ABCD1):c.2180C>T (p.Ala727Val)
NM_000033.4(ABCD1):c.2184T>C (p.His728=)
NM_000033.4(ABCD1):c.2188C>T (p.Pro730Ser) rs1603236153
NM_000033.4(ABCD1):c.2189C>G (p.Pro730Arg)
NM_000033.4(ABCD1):c.2190G>C (p.Pro730=) rs193922096
NM_000033.4(ABCD1):c.2199C>T (p.Ser733=) rs2148399640
NM_000033.4(ABCD1):c.21C>T (p.Pro7=) rs2148388528
NM_000033.4(ABCD1):c.2201C>T (p.Pro734Leu) rs368462762
NM_000033.4(ABCD1):c.2205dup (p.Gly736fs)
NM_000033.4(ABCD1):c.2208C>T (p.Gly736=)
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
NM_000033.4(ABCD1):c.2211T>C (p.Pro737=)
NM_000033.4(ABCD1):c.2214T>A (p.Gly738=) rs2148399657
NM_000033.4(ABCD1):c.2216G>T (p.Gly739Val)
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu) rs868953385
NM_000033.4(ABCD1):c.2221C>T (p.Gln741Ter) rs2091776291
NM_000033.4(ABCD1):c.2228C>A (p.Ala743Asp) rs1603236168
NM_000033.4(ABCD1):c.2238A>G (p.Ter746Trp)
NM_000033.4(ABCD1):c.224T>C (p.Leu75Pro)
NM_000033.4(ABCD1):c.225C>A (p.Leu75=)
NM_000033.4(ABCD1):c.225_226dup (p.Leu76fs)
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del) rs1569540680
NM_000033.4(ABCD1):c.22C>A (p.Arg8=) rs2091702555
NM_000033.4(ABCD1):c.22C>T (p.Arg8Trp)
NM_000033.4(ABCD1):c.22dup (p.Arg8fs)
NM_000033.4(ABCD1):c.233T>A (p.Leu78His)
NM_000033.4(ABCD1):c.233T>G (p.Leu78Arg)
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.234_565del (p.Leu79fs)
NM_000033.4(ABCD1):c.238C>T (p.Arg80Trp) rs868977355
NM_000033.4(ABCD1):c.239_240insTTTGCG (p.Leu81_Leu82insArgLeu)
NM_000033.4(ABCD1):c.241_242dup (p.Leu82fs)
NM_000033.4(ABCD1):c.243G>C (p.Leu81=)
NM_000033.4(ABCD1):c.244C>T (p.Leu82=)
NM_000033.4(ABCD1):c.246G>A (p.Leu82=)
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.254G>C (p.Arg85Pro) rs782221851
NM_000033.4(ABCD1):c.254G>T (p.Arg85Leu) rs782221851
NM_000033.4(ABCD1):c.254_280del (p.Arg85_Leu93del) rs2091704899
NM_000033.4(ABCD1):c.257T>A (p.Val86Asp) rs2148388871
NM_000033.4(ABCD1):c.263G>A (p.Cys88Tyr) rs2091705016
NM_000033.4(ABCD1):c.265C>T (p.Arg89Trp)
NM_000033.4(ABCD1):c.266G>A (p.Arg89Gln)
NM_000033.4(ABCD1):c.268G>T (p.Glu90Ter) rs2148388883
NM_000033.4(ABCD1):c.269dup (p.Thr91fs)
NM_000033.4(ABCD1):c.273G>A (p.Thr91=) rs2148388896
NM_000033.4(ABCD1):c.276del (p.Leu93fs)
NM_000033.4(ABCD1):c.277C>T (p.Leu93=)
NM_000033.4(ABCD1):c.282G>A (p.Leu94=) rs2148388909
NM_000033.4(ABCD1):c.283G>C (p.Ala95Pro)
NM_000033.4(ABCD1):c.285C>A (p.Ala95=)
NM_000033.4(ABCD1):c.285C>T (p.Ala95=)
NM_000033.4(ABCD1):c.286C>T (p.Leu96=)
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.292T>C (p.Ser98Pro)
NM_000033.4(ABCD1):c.293C>A (p.Ser98Ter)
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)
NM_000033.4(ABCD1):c.293C>T (p.Ser98Leu) rs1557052294
NM_000033.4(ABCD1):c.297C>G (p.Ala99=) rs889405096
NM_000033.4(ABCD1):c.298G>A (p.Ala100Thr)
NM_000033.4(ABCD1):c.298G>C (p.Ala100Pro) rs1557052298
NM_000033.4(ABCD1):c.29G>A (p.Trp10Ter) rs2148388538
NM_000033.4(ABCD1):c.300C>A (p.Ala100=)
NM_000033.4(ABCD1):c.301T>G (p.Leu101Val)
NM_000033.4(ABCD1):c.302T>C (p.Leu101Ser)
NM_000033.4(ABCD1):c.304G>A (p.Val102Met) rs2148388959
NM_000033.4(ABCD1):c.306G>A (p.Val102=) rs2148388966
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
NM_000033.4(ABCD1):c.30G>A (p.Trp10Ter) rs1304001811
NM_000033.4(ABCD1):c.30G>C (p.Trp10Cys)
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.318C>T (p.Phe106=)
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro) rs1569540688
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu) rs2091705631
NM_000033.4(ABCD1):c.324G>C (p.Ser108=)
NM_000033.4(ABCD1):c.324G>T (p.Ser108=)
NM_000033.4(ABCD1):c.327G>A (p.Val109=)
NM_000033.4(ABCD1):c.32G>C (p.Arg11Pro) rs782122122
NM_000033.4(ABCD1):c.332T>C (p.Val111Ala)
NM_000033.4(ABCD1):c.338G>A (p.Arg113His) rs1322406234
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
NM_000033.4(ABCD1):c.340_360del (p.Leu114_Arg120del) rs2148389007
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro) rs1603231848
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.346G>T (p.Gly116Ter)
NM_000033.4(ABCD1):c.351G>A (p.Arg117=)
NM_000033.4(ABCD1):c.352C>T (p.Leu118=)
NM_000033.4(ABCD1):c.355G>T (p.Ala119Ser)
NM_000033.4(ABCD1):c.357C>T (p.Ala119=) rs1603231862
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)
NM_000033.4(ABCD1):c.366C>T (p.Ile122=)
NM_000033.4(ABCD1):c.36del (p.Asn13fs) rs1603231653
NM_000033.4(ABCD1):c.36dup (p.Asn13fs) rs1603231653
NM_000033.4(ABCD1):c.371G>A (p.Arg124His)
NM_000033.4(ABCD1):c.372C>G (p.Arg124=) rs2148389085
NM_000033.4(ABCD1):c.378C>T (p.Asp126=)
NM_000033.4(ABCD1):c.383G>C (p.Arg128Pro)
NM_000033.4(ABCD1):c.389T>C (p.Phe130Ser)
NM_000033.4(ABCD1):c.390T>C (p.Phe130=) rs2148389114
NM_000033.4(ABCD1):c.394T>C (p.Trp132Arg)
NM_000033.4(ABCD1):c.396G>A (p.Trp132Ter)
NM_000033.4(ABCD1):c.3_4delinsTT (p.Met1_Pro2delinsIleSer)
NM_000033.4(ABCD1):c.3dup (p.Pro2fs)
NM_000033.4(ABCD1):c.402G>A (p.Leu134=)
NM_000033.4(ABCD1):c.406C>T (p.Gln136Ter) rs398123111
NM_000033.4(ABCD1):c.408G>A (p.Gln136=)
NM_000033.4(ABCD1):c.408del (p.Gln136fs) rs1603231897
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter) rs2091706547
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del) rs1557052351
NM_000033.4(ABCD1):c.413_416dup (p.Ile140fs)
NM_000033.4(ABCD1):c.414C>A (p.Leu138=)
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr) rs193922097
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val) rs1603231911
NM_000033.4(ABCD1):c.423C>T (p.Ala141=) rs2091706712
NM_000033.4(ABCD1):c.424C>G (p.Leu142Val)
NM_000033.4(ABCD1):c.426_429del (p.Pro143fs)
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
NM_000033.4(ABCD1):c.431C>T (p.Ala144Val)
NM_000033.4(ABCD1):c.433A>G (p.Thr145Ala) rs1292006620
NM_000033.4(ABCD1):c.435C>G (p.Thr145=)
NM_000033.4(ABCD1):c.438C>T (p.Phe146=)
NM_000033.4(ABCD1):c.439G>A (p.Val147Ile)
NM_000033.4(ABCD1):c.43C>T (p.Leu15=) rs2148388577
NM_000033.4(ABCD1):c.441C>T (p.Val147=) rs2148389207
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.443A>G (p.Asn148Ser) rs128624216
NM_000033.4(ABCD1):c.450C>T (p.Ala150=)
NM_000033.4(ABCD1):c.450del (p.Ile151fs)
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
NM_000033.4(ABCD1):c.452T>C (p.Ile151Thr) rs1569540692
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser) rs1569540693
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>A (p.Arg152His)
NM_000033.4(ABCD1):c.455G>C (p.Arg152Pro) rs1557052367
NM_000033.4(ABCD1):c.456_457del (p.Tyr153fs)
NM_000033.4(ABCD1):c.45G>A (p.Leu15=)
NM_000033.4(ABCD1):c.460C>T (p.Leu154=) rs781895141
NM_000033.4(ABCD1):c.467G>A (p.Gly156Asp) rs2091707109
NM_000033.4(ABCD1):c.469C>T (p.Gln157Ter)
NM_000033.4(ABCD1):c.473T>A (p.Leu158Gln)
NM_000033.4(ABCD1):c.474G>A (p.Leu158=)
NM_000033.4(ABCD1):c.475G>A (p.Ala159Thr)
NM_000033.4(ABCD1):c.476_499del (p.Ala159_Leu166del)
NM_000033.4(ABCD1):c.478C>T (p.Leu160=) rs2091707295
NM_000033.4(ABCD1):c.479T>C (p.Leu160Pro) rs2091707324
NM_000033.4(ABCD1):c.480G>A (p.Leu160=) rs2148389255
NM_000033.4(ABCD1):c.482C>A (p.Ser161Ter) rs373957035
NM_000033.4(ABCD1):c.483del (p.Phe162fs) rs2091707458
NM_000033.4(ABCD1):c.485T>C (p.Phe162Ser) rs2148389278
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.487del (p.Arg163fs)
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.489C>T (p.Arg163=)
NM_000033.4(ABCD1):c.495T>G (p.Arg165=) rs2148389295
NM_000033.4(ABCD1):c.498G>A (p.Leu166=)
NM_000033.4(ABCD1):c.498_520del (p.Val167fs) rs398123112
NM_000033.4(ABCD1):c.499G>C (p.Val167Leu)
NM_000033.4(ABCD1):c.501G>C (p.Val167=) rs2148389307
NM_000033.4(ABCD1):c.503C>T (p.Ala168Val)
NM_000033.4(ABCD1):c.504C>T (p.Ala168=)
NM_000033.4(ABCD1):c.509C>T (p.Ala170Val)
NM_000033.4(ABCD1):c.513C>T (p.Tyr171=)
NM_000033.4(ABCD1):c.514C>T (p.Arg172Cys)
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
NM_000033.4(ABCD1):c.520T>G (p.Tyr174Asp) rs128624217
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.524_526del (p.Phe175del) rs2091707872
NM_000033.4(ABCD1):c.526T>A (p.Ser176Thr)
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter) rs1057516052
NM_000033.4(ABCD1):c.529del (p.Gln177fs)
NM_000033.4(ABCD1):c.530A>T (p.Gln177Leu) rs2091708007
NM_000033.4(ABCD1):c.531G>A (p.Gln177=)
NM_000033.4(ABCD1):c.532C>T (p.Gln178Ter)
NM_000033.4(ABCD1):c.537_544dup (p.Arg182fs) rs1557052397
NM_000033.4(ABCD1):c.539A>C (p.Tyr180Ser)
NM_000033.4(ABCD1):c.539A>G (p.Tyr180Cys) rs2091708150
NM_000033.4(ABCD1):c.53C>A (p.Thr18Lys)
NM_000033.4(ABCD1):c.542A>C (p.Tyr181Ser) rs1557052401
NM_000033.4(ABCD1):c.542_545dup (p.Val183fs)
NM_000033.4(ABCD1):c.544C>G (p.Arg182Gly) rs1603232005
NM_000033.4(ABCD1):c.545G>A (p.Arg182Gln) rs1383386358
NM_000033.4(ABCD1):c.546G>A (p.Arg182=)
NM_000033.4(ABCD1):c.546G>T (p.Arg182=) rs2091708238
NM_000033.4(ABCD1):c.549C>G (p.Val183=)
NM_000033.4(ABCD1):c.562G>A (p.Gly188Arg)
NM_000033.4(ABCD1):c.562G>T (p.Gly188Trp)
NM_000033.4(ABCD1):c.564G>C (p.Gly188=) rs1603232017
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp) rs1131691916
NM_000033.4(ABCD1):c.566G>A (p.Arg189Gln)
NM_000033.4(ABCD1):c.569T>C (p.Leu190Pro)
NM_000033.4(ABCD1):c.571C>T (p.Arg191Cys)
NM_000033.4(ABCD1):c.572G>A (p.Arg191His)
NM_000033.4(ABCD1):c.573C>A (p.Arg191=)
NM_000033.4(ABCD1):c.575_592dup (p.Leu197_Thr198insAsnProAspGlnSerLeu)
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg) rs2091708534
NM_000033.4(ABCD1):c.579T>G (p.Pro193=)
NM_000033.4(ABCD1):c.57C>T (p.Ala19=) rs1603231679
NM_000033.4(ABCD1):c.580G>A (p.Asp194Asn) rs2091708552
NM_000033.4(ABCD1):c.581A>T (p.Asp194Val)
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu) rs1569540703
NM_000033.4(ABCD1):c.582C>T (p.Asp194=)
NM_000033.4(ABCD1):c.583C>A (p.Gln195Lys)
NM_000033.4(ABCD1):c.584A>G (p.Gln195Arg)
NM_000033.4(ABCD1):c.588T>C (p.Ser196=)
NM_000033.4(ABCD1):c.589C>T (p.Leu197=) rs2148389466
NM_000033.4(ABCD1):c.589_590del (p.Leu197fs) rs2148389462
NM_000033.4(ABCD1):c.590T>G (p.Leu197Arg)
NM_000033.4(ABCD1):c.591G>A (p.Leu197=) rs2148389468
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met) rs1569540704
NM_000033.4(ABCD1):c.594G>C (p.Thr198=) rs782046246
NM_000033.4(ABCD1):c.595G>A (p.Glu199Lys) rs1569540705
NM_000033.4(ABCD1):c.598G>A (p.Asp200Asn) rs2091708688
NM_000033.4(ABCD1):c.59T>A (p.Val20Glu)
NM_000033.4(ABCD1):c.600C>A (p.Asp200Glu) rs782724538
NM_000033.4(ABCD1):c.603G>T (p.Val201=)
NM_000033.4(ABCD1):c.609C>G (p.Ala203=)
NM_000033.4(ABCD1):c.614C>A (p.Ala205Glu) rs398123113
NM_000033.4(ABCD1):c.615G>A (p.Ala205=) rs782601474
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs) rs2091708827
NM_000033.4(ABCD1):c.620C>T (p.Ser207Phe)
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.633C>G (p.Leu211=) rs145009407
NM_000033.4(ABCD1):c.638C>A (p.Ser213Tyr) rs782567718
NM_000033.4(ABCD1):c.638C>T (p.Ser213Phe) rs782567718
NM_000033.4(ABCD1):c.644T>C (p.Leu215Pro) rs2148389537
NM_000033.4(ABCD1):c.647C>A (p.Thr216Asn)
NM_000033.4(ABCD1):c.647C>T (p.Thr216Ile) rs1603232050
NM_000033.4(ABCD1):c.648C>G (p.Thr216=) rs782200450
NM_000033.4(ABCD1):c.648C>T (p.Thr216=)
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.658C>T (p.Leu220=) rs2148389558
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro) rs2091709142
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
NM_000033.4(ABCD1):c.65T>C (p.Leu22Pro)
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn) rs2091709198
NM_000033.4(ABCD1):c.664G>A (p.Val222Met)
NM_000033.4(ABCD1):c.665T>G (p.Val222Gly)
NM_000033.4(ABCD1):c.668C>A (p.Ala223Asp)
NM_000033.4(ABCD1):c.668_900+291del rs2148389592
NM_000033.4(ABCD1):c.669T>C (p.Ala223=) rs2148389594
NM_000033.4(ABCD1):c.66G>C (p.Leu22=)
NM_000033.4(ABCD1):c.671T>G (p.Val224Gly) rs2148389598
NM_000033.4(ABCD1):c.674C>T (p.Thr225Ile)
NM_000033.4(ABCD1):c.684C>T (p.Thr228=) rs2148389624
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val) rs2091709505
NM_000033.4(ABCD1):c.686T>C (p.Leu229Pro)
NM_000033.4(ABCD1):c.696G>A (p.Ala232=) rs147595334
NM_000033.4(ABCD1):c.697del (p.Ala233fs) rs2148389670
NM_000033.4(ABCD1):c.6G>A (p.Pro2=) rs2091702415
NM_000033.4(ABCD1):c.6G>T (p.Pro2=)
NM_000033.4(ABCD1):c.700C>G (p.Arg234Gly)
NM_000033.4(ABCD1):c.700C>T (p.Arg234Cys) rs1557052478
NM_000033.4(ABCD1):c.701G>A (p.Arg234His)
NM_000033.4(ABCD1):c.701G>T (p.Arg234Leu) rs782723557
NM_000033.4(ABCD1):c.702C>T (p.Arg234=) rs2148389678
NM_000033.4(ABCD1):c.706C>G (p.Arg236Gly)
NM_000033.4(ABCD1):c.706C>T (p.Arg236Cys)
NM_000033.4(ABCD1):c.708T>G (p.Arg236=)
NM_000033.4(ABCD1):c.70del (p.Leu24fs) rs1557052171
NM_000033.4(ABCD1):c.712G>A (p.Ala238Thr)
NM_000033.4(ABCD1):c.712G>T (p.Ala238Ser)
NM_000033.4(ABCD1):c.715G>A (p.Gly239Ser)
NM_000033.4(ABCD1):c.716G>T (p.Gly239Val)
NM_000033.4(ABCD1):c.720A>C (p.Thr240=) rs1302310288
NM_000033.4(ABCD1):c.721_722del (p.Ala241fs)
NM_000033.4(ABCD1):c.723del (p.Trp242fs) rs1603232111
NM_000033.4(ABCD1):c.728C>G (p.Pro243Arg)
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
NM_000033.4(ABCD1):c.732G>C (p.Ser244=) rs782643462
NM_000033.4(ABCD1):c.732G>T (p.Ser244=)
NM_000033.4(ABCD1):c.738C>T (p.Ile246=) rs2148389730
NM_000033.4(ABCD1):c.741C>T (p.Ala247=)
NM_000033.4(ABCD1):c.742G>A (p.Gly248Ser)
NM_000033.4(ABCD1):c.743G>A (p.Gly248Asp)
NM_000033.4(ABCD1):c.747C>G (p.Leu249=) rs2091710297
NM_000033.4(ABCD1):c.747C>T (p.Leu249=) rs2091710297
NM_000033.4(ABCD1):c.748G>A (p.Val250Met)
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del) rs2091710358
NM_000033.4(ABCD1):c.750G>A (p.Val250=)
NM_000033.4(ABCD1):c.750G>C (p.Val250=) rs782196006
NM_000033.4(ABCD1):c.754T>C (p.Phe252Leu)
NM_000033.4(ABCD1):c.75G>A (p.Ala25=)
NM_000033.4(ABCD1):c.760A>C (p.Thr254Pro)
NM_000033.4(ABCD1):c.760A>G (p.Thr254Ala) rs2148389772
NM_000033.4(ABCD1):c.761C>A (p.Thr254Lys)
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met) rs1131691743
NM_000033.4(ABCD1):c.762G>A (p.Thr254=)
NM_000033.4(ABCD1):c.762G>C (p.Thr254=)
NM_000033.4(ABCD1):c.762G>T (p.Thr254=) rs1557052528
NM_000033.4(ABCD1):c.763G>C (p.Ala255Pro)
NM_000033.4(ABCD1):c.765C>G (p.Ala255=) rs2148389784
NM_000033.4(ABCD1):c.766_769dup (p.Val257fs) rs1557052530
NM_000033.4(ABCD1):c.772C>T (p.Leu258=)
NM_000033.4(ABCD1):c.773T>C (p.Leu258Pro) rs1569540731
NM_000033.4(ABCD1):c.775C>T (p.Arg259Trp)
NM_000033.4(ABCD1):c.778G>T (p.Ala260Ser)
NM_000033.4(ABCD1):c.780C>A (p.Ala260=)
NM_000033.4(ABCD1):c.785C>G (p.Ser262Trp) rs1204814114
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser) rs2091710960
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
NM_000033.4(ABCD1):c.788_820del (p.Pro263_Ala273del) rs2148389834
NM_000033.4(ABCD1):c.794T>C (p.Phe265Ser) rs1603232171
NM_000033.4(ABCD1):c.794T>G (p.Phe265Cys)
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.797G>A (p.Gly266Glu) rs2091711094
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
NM_000033.4(ABCD1):c.798G>A (p.Gly266=) rs2148389855
NM_000033.4(ABCD1):c.799G>A (p.Glu267Lys)
NM_000033.4(ABCD1):c.7G>C (p.Val3Leu)
NM_000033.4(ABCD1):c.804G>A (p.Leu268=) rs1270284411
NM_000033.4(ABCD1):c.804G>C (p.Leu268=)
NM_000033.4(ABCD1):c.805G>A (p.Val269Met) rs2091711117
NM_000033.4(ABCD1):c.806T>G (p.Val269Gly)
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser) rs1569540665
NM_000033.4(ABCD1):c.815A>G (p.Glu272Gly) rs2091711183
NM_000033.4(ABCD1):c.817G>T (p.Ala273Ser) rs1324272283
NM_000033.4(ABCD1):c.818C>A (p.Ala273Glu) rs868992338
NM_000033.4(ABCD1):c.823_831del (p.Arg275_Gly277del) rs2091711370
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
NM_000033.4(ABCD1):c.825G>A (p.Arg275=) rs2148389893
NM_000033.4(ABCD1):c.828G>A (p.Lys276=) rs2148389897
NM_000033.4(ABCD1):c.828G>T (p.Lys276Asn)
NM_000033.4(ABCD1):c.828_829insAAT (p.Lys276_Gly277insAsn)
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.841_853del (p.Tyr281fs)
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter) rs1557052555
NM_000033.4(ABCD1):c.847C>G (p.His283Asp) rs782509393
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr) 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.849C>T (p.His283=)
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
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.852G>A (p.Ser284=) rs1034154728
NM_000033.4(ABCD1):c.853C>A (p.Arg285Ser) rs782334088
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly) rs782334088
NM_000033.4(ABCD1):c.855T>C (p.Arg285=) rs1471236066
NM_000033.4(ABCD1):c.855del (p.Val286fs)
NM_000033.4(ABCD1):c.859G>A (p.Val287Met)
NM_000033.4(ABCD1):c.85G>C (p.Ala29Pro)
NM_000033.4(ABCD1):c.869C>G (p.Ser290Trp)
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
NM_000033.4(ABCD1):c.86C>A (p.Ala29Asp)
NM_000033.4(ABCD1):c.871G>A (p.Glu291Lys) rs128624213
NM_000033.4(ABCD1):c.871GAG[1] (p.Glu292del) rs387906496
NM_000033.4(ABCD1):c.872A>C (p.Glu291Ala)
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.876G>C (p.Glu292Asp) rs1557052573
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr) rs1603232237
NM_000033.4(ABCD1):c.879C>T (p.Ile293=) rs1176122000
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr) rs1131691954
NM_000033.4(ABCD1):c.886_887delinsAG (p.Tyr296Ser) rs2148389994
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys) rs797044610
NM_000033.4(ABCD1):c.888T>C (p.Tyr296=) rs2091712169
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser) rs1603232243
NM_000033.4(ABCD1):c.892G>T (p.Gly298Cys)
NM_000033.4(ABCD1):c.893dup (p.His299fs)
NM_000033.4(ABCD1):c.896A>G (p.His299Arg) rs782430461
NM_000033.4(ABCD1):c.898G>T (p.Glu300Ter)
NM_000033.4(ABCD1):c.8del (p.Val3fs)
NM_000033.4(ABCD1):c.900+17T>A
NM_000033.4(ABCD1):c.900+18G>A
NM_000033.4(ABCD1):c.900+1G>C
NM_000033.4(ABCD1):c.900+1G>T
NM_000033.4(ABCD1):c.900+20C>T
NM_000033.4(ABCD1):c.900+2T>C rs2091712381
NM_000033.4(ABCD1):c.900+2T>G rs2091712381
NM_000033.4(ABCD1):c.900+6dup
NM_000033.4(ABCD1):c.900+7C>T rs2091712393
NM_000033.4(ABCD1):c.900+8A>G rs2148390036
NM_000033.4(ABCD1):c.900G>A (p.Glu300=) rs1569540743
NM_000033.4(ABCD1):c.901-18G>A
NM_000033.4(ABCD1):c.901-18_901-17del
NM_000033.4(ABCD1):c.901-1G>A rs2148391908
NM_000033.4(ABCD1):c.901-20G>C
NM_000033.4(ABCD1):c.901-2A>C rs2148391907
NM_000033.4(ABCD1):c.901-2A>G rs2148391907
NM_000033.4(ABCD1):c.901-48_909del
NM_000033.4(ABCD1):c.901-4G>C rs782306934
NM_000033.4(ABCD1):c.901-5C>A rs782603062
NM_000033.4(ABCD1):c.901-5del rs782805046
NM_000033.4(ABCD1):c.901-5dup
NM_000033.4(ABCD1):c.901-6C>G
NM_000033.4(ABCD1):c.901-7C>A
NM_000033.4(ABCD1):c.901-8C>T
NM_000033.4(ABCD1):c.901-9C>T rs782602840
NM_000033.4(ABCD1):c.901-9_903del rs2148391889
NM_000033.4(ABCD1):c.904G>A (p.Glu302Lys)
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.906G>C (p.Glu302Asp)
NM_000033.4(ABCD1):c.912C>G (p.Ala304=)
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.919C>T (p.Gln307Ter) rs1603233089
NM_000033.4(ABCD1):c.91A>T (p.Lys31Ter)
NM_000033.4(ABCD1):c.923G>C (p.Arg308Pro) rs781978255
NM_000033.4(ABCD1):c.924C>T (p.Arg308=)
NM_000033.4(ABCD1):c.926C>T (p.Ser309Phe)
NM_000033.4(ABCD1):c.92A>G (p.Lys31Arg)
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter) rs941503814
NM_000033.4(ABCD1):c.932A>G (p.Gln311Arg)
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
NM_000033.4(ABCD1):c.936C>T (p.Asp312=) rs782131008
NM_000033.4(ABCD1):c.938T>A (p.Leu313Gln) rs2091726449
NM_000033.4(ABCD1):c.938T>C (p.Leu313Pro)
NM_000033.4(ABCD1):c.93A>G (p.Lys31=) rs2148388633
NM_000033.4(ABCD1):c.943T>C (p.Ser315Pro) rs2091726463
NM_000033.4(ABCD1):c.945G>T (p.Ser315=) rs145545199
NM_000033.4(ABCD1):c.948G>A (p.Gln316=) rs2148391960
NM_000033.4(ABCD1):c.951C>A (p.Ile317=) rs2148391963
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
NM_000033.4(ABCD1):c.955C>T (p.Leu319Phe) rs879952582
NM_000033.4(ABCD1):c.956T>C (p.Leu319Pro)
NM_000033.4(ABCD1):c.957C>G (p.Leu319=)
NM_000033.4(ABCD1):c.963T>C (p.Leu321=)
NM_000033.4(ABCD1):c.965T>C (p.Leu322Pro) rs2148391974
NM_000033.4(ABCD1):c.967G>A (p.Glu323Lys)
NM_000033.4(ABCD1):c.970C>T (p.Arg324Cys)
NM_000033.4(ABCD1):c.971G>A (p.Arg324His)
NM_000033.4(ABCD1):c.971G>C (p.Arg324Pro) rs148904415
NM_000033.4(ABCD1):c.975G>T (p.Leu325=)
NM_000033.4(ABCD1):c.981T>C (p.Tyr327=) rs1179912920
NM_000033.4(ABCD1):c.982G>A (p.Val328Ile) rs2148391987
NM_000033.4(ABCD1):c.983T>G (p.Val328Gly) rs2148391989
NM_000033.4(ABCD1):c.986T>C (p.Met329Thr)
NM_000033.4(ABCD1):c.988_1005del (p.Leu330_Met335del) rs1603233113
NM_000033.4(ABCD1):c.991G>A (p.Glu331Lys)
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly) rs1557053241
NM_000033.4(ABCD1):c.992A>T (p.Glu331Val)
NM_000033.4(ABCD1):c.994C>T (p.Gln332Ter) rs2091726671
NM_000033.4(ABCD1):c.995A>G (p.Gln332Arg)
NM_000033.4(ABCD1):c.997T>A (p.Phe333Ile)
NM_000033.4(ABCD1):c.99C>A (p.Tyr33Ter)
NM_000033.4(ABCD1):c.9del (p.Leu4fs)

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