NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr)
|
rs183021839
|
0.00235
|
NM_000033.4(ABCD1):c.2190G>A (p.Pro730=)
|
rs193922096
|
0.00080
|
NM_000033.4(ABCD1):c.1780+4G>A
|
rs193922095
|
0.00014
|
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met)
|
rs192525493
|
0.00009
|
NM_000033.4(ABCD1):c.2065C>T (p.Arg689Cys)
|
rs782376163
|
0.00005
|
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)
|
rs965462099
|
0.00005
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
NM_000033.4(ABCD1):c.31C>G (p.Arg11Gly)
|
rs1224689084
|
0.00003
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1253G>A (p.Arg418Gln)
|
rs1046633404
|
0.00001
|
NM_000033.4(ABCD1):c.1415A>G (p.Gln472Arg)
|
rs1569541033
|
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.1991+8C>T
|
rs2091774199
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.*208G>C
|
rs193922092
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
|
|
|
NM_000033.4(ABCD1):c.1415_1416del (p.Gln472fs)
|
rs387906494
|
|
NM_000033.4(ABCD1):c.143C>T (p.Ala48Val)
|
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)
|
rs193922094
|
|
NM_000033.4(ABCD1):c.1634+13G>A
|
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1794G>T (p.Met598Ile)
|
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
|
|
|
NM_000033.4(ABCD1):c.314C>T (p.Thr105Ile)
|
rs2148388980
|
|
NM_000033.4(ABCD1):c.347G>A (p.Gly116Glu)
|
rs2091705857
|
|
NM_000033.4(ABCD1):c.421G>A (p.Ala141Thr)
|
rs193922097
|
|
NM_000033.4(ABCD1):c.529C>T (p.Gln177Ter)
|
rs1057516052
|
|
NM_000033.4(ABCD1):c.688C>T (p.Leu230Phe)
|
rs2148389639
|
|
NM_000033.4(ABCD1):c.712G>A (p.Ala238Thr)
|
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
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.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.900+2T>C
|
rs2091712381
|
|