Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153740599C>T | CA10550291 | ABCD1 | c.1660C>T (p.Arg554Cys) n.663C>T n.2132C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.153740599C>A | CA278406 | ABCD1 | c.1660C>A (p.Arg554Ser) n.663C>A n.2132C>A | ClinVar dbSNP |
X | g.153740599C= | CA2466456598 | ABCD1 | c.1660C= (p.Arg554=) n.663C= n.2132C= | dbSNP dbSNP |