Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153726104C>G | CA415100126 | ABCD1 | c.838C>G (p.Arg280Gly) c.283C>G (p.Arg95Gly) n.1254C>G | ClinVar dbSNP |
X | g.153726104C>A | CA10550024 | ABCD1 | c.838C>A (p.Arg280Ser) c.283C>A (p.Arg95Ser) n.1254C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
X | g.153726104C>T | CA278382 | ABCD1 | c.838C>T (p.Arg280Cys) c.283C>T (p.Arg95Cys) n.1254C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |