Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.153726027C>T | CA415099842 | ABCD1 | c.761C>T (p.Thr254Met) c.206C>T (p.Thr69Met) n.1177C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
X | g.153726027C= | CA2466451171 | ABCD1 | c.761C= (p.Thr254=) c.206C= (p.Thr69=) n.1177C= | dbSNP |
X | g.153726027C>A | CA415099844 | ABCD1 | c.761C>A (p.Thr254Lys) c.206C>A (p.Thr69Lys) n.1177C>A | ClinVar dbSNP |