| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.74670258C>A | CA249476 | ADK | c.953C>A (p.Ala318Glu) c.902C>A (p.Ala301Glu) c.677C>A (p.Ala226Glu) c.782C>A (p.Ala261Glu) c.503-38063C>A c.*698C>A (n.*698C>A) c.848C>A (p.Ala283Glu) c.*546C>A (n.*546C>A) c.838C>A (p.His280Asn) c.869C>A (p.Ala290Glu) c.758C>A (p.Ala253Glu) c.731C>A (p.Ala244Glu) c.787C>A (p.His263Asn) c.667C>A (p.His223Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.74670258C>T | CA377399026 | ADK | c.953C>T (p.Ala318Val) c.902C>T (p.Ala301Val) c.677C>T (p.Ala226Val) c.782C>T (p.Ala261Val) c.503-38063C>T c.*698C>T (n.*698C>T) c.848C>T (p.Ala283Val) c.*546C>T (n.*546C>T) c.838C>T (p.His280Tyr) c.869C>T (p.Ala290Val) c.758C>T (p.Ala253Val) c.731C>T (p.Ala244Val) c.787C>T (p.His263Tyr) c.667C>T (p.His223Tyr) | dbSNP gnomAD v2 gnomAD v4 |