| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.121849726T>C | CA115056 | HPD | c.479A>G (p.Tyr160Cys) n.663A>G c.362A>G (p.Tyr121Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.121849726T= | CA2068084309 | HPD | c.479A= (p.Tyr160=) n.663A= c.362A= (p.Tyr121=) | dbSNP |
| 12 | g.121849726T>A | CA387017538 | HPD | c.479A>T (p.Tyr160Phe) n.663A>T c.362A>T (p.Tyr121Phe) | dbSNP gnomAD v4 |