| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.25408711G>A | CA233211 | RHCE | c.307C>T (p.Pro103Ser) c.259C>T (p.Pro87Ser) n.413C>T n.462C>T c.149-5965C>T (n.149-5965C>T) c.187C>T (p.Pro63Ser) c.178C>T (p.Pro60Ser) c.139C>T (p.Pro47Ser) c.412C>T (p.Pro138Ser) c.-4294966950C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.25408711G= | CA039754 | RHCE | c.307C= (p.Pro103=) c.259C= (p.Pro87=) n.413C= n.462C= c.149-5965C= (n.149-5965C=) c.187C= (p.Pro63=) c.178C= (p.Pro60=) c.139C= (p.Pro47=) c.412C= (p.Pro138=) c.-4294966950C= | dbSNP |