| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.158612819G>A | CA16617007 | SPTA1 | c.7132C>T (p.Gln2378Ter) n.573C>T n.564C>T c.7114C>T (p.Gln2372Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 1 | g.158612819G= | CA1201536908 | SPTA1 | c.7132C= (p.Gln2378=) n.573C= n.564C= c.7114C= (p.Gln2372=) | dbSNP |