| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153743023C>A | CA415115913 | ABCD1 | c.1817C>A (p.Ser606Ter) n.2289C>A | ClinVar dbSNP gnomAD v4 |
| X | g.153743023C>T | CA121420 | ABCD1 | c.1817C>T (p.Ser606Leu) n.2289C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153743023C= | CA2466457529 | ABCD1 | c.1817C= (p.Ser606=) n.2289C= | dbSNP |