| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.112233216C>A | CA6278562 | PTS | c.297C>A (p.Tyr99Ter) c.93C>A (p.Tyr31Ter) c.*31C>A (n.*31C>A) n.471C>A n.338C>A c.*106C>A (n.*106C>A) n.248C>A c.258C>A (p.Tyr86Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.112233216C= | CA2000619825 | PTS | c.297C= (p.Tyr99=) c.93C= (p.Tyr31=) c.*31C= (n.*31C=) n.471C= n.338C= c.*106C= (n.*106C=) n.248C= c.258C= (p.Tyr86=) | dbSNP |