| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.158662793G>A | CA421589185 | SPTA1 | c.2373C>T (p.Asp791=) n.2486C>T n.2491C>T n.2499C>T n.2501C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.158662793G>T | CA122762 | SPTA1 | c.2373C>A (p.Asp791Glu) n.2486C>A n.2491C>A n.2499C>A n.2501C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |