| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.158623153T>A | CA10602745 | SPTA1 | c.5950A>T (p.Arg1984Ter) n.496A>T n.5795A>T n.5808A>T | ClinVar dbSNP |
| 1 | g.158623153T>C | CA343020152 | SPTA1 | c.5950A>G (p.Arg1984Gly) n.496A>G n.5795A>G n.5808A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |