| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.34292375T>C | CA122806 | AHCY | c.428A>G (p.Tyr143Cys) n.591A>G n.475A>G c.344A>G (p.Tyr115Cys) c.434A>G (p.Tyr145Cys) c.50A>G (p.Tyr17Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 20 | g.34292375T>A | CA408658883 | AHCY | c.428A>T (p.Tyr143Phe) n.591A>T n.475A>T c.344A>T (p.Tyr115Phe) c.434A>T (p.Tyr145Phe) c.50A>T (p.Tyr17Phe) | dbSNP gnomAD v4 |
| 20 | g.34292375T= | CA2361138423 | AHCY | c.428A= (p.Tyr143=) n.591A= n.475A= c.344A= (p.Tyr115=) c.434A= (p.Tyr145=) c.50A= (p.Tyr17=) | dbSNP |