| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.133352696G>A | CA10584085 | SURF1 | c.586C>T (p.Gln196Ter) n.496C>T n.576C>T c.259C>T (p.Gln87Ter) | ClinVar dbSNP dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.133352696G= | CA1882634417 | SURF1 | c.586C= (p.Gln196=) n.496C= n.576C= c.259C= (p.Gln87=) | dbSNP |