| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.153743254C>G | CA415116871 | ABCD1 | c.1899C>G (p.Ser633Arg) n.2371C>G | ClinVar dbSNP |
| X | g.153743254C>T | CA10550353 | ABCD1 | c.1899C>T (p.Ser633=) n.2371C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.153743254C= | CA2466457645 | ABCD1 | c.1899C= (p.Ser633=) n.2371C= | dbSNP |