| 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 |
| 10 | g.74670258C>G | CA377399025 | ADK | c.953C>G (p.Ala318Gly) c.902C>G (p.Ala301Gly) c.677C>G (p.Ala226Gly) c.782C>G (p.Ala261Gly) c.503-38063C>G c.*698C>G (n.*698C>G) c.848C>G (p.Ala283Gly) c.*546C>G (n.*546C>G) c.838C>G (p.His280Asp) c.869C>G (p.Ala290Gly) c.758C>G (p.Ala253Gly) c.731C>G (p.Ala244Gly) c.787C>G (p.His263Asp) c.667C>G (p.His223Asp) | dbSNP gnomAD v4 |
| 10 | g.74670258C= | CA1920154647 | ADK | c.953C= (p.Ala318=) c.902C= (p.Ala301=) c.677C= (p.Ala226=) c.782C= (p.Ala261=) c.503-38063C= c.*698C= (n.*698C=) c.848C= (p.Ala283=) c.*546C= (n.*546C=) c.838C= (p.His280=) c.869C= (p.Ala290=) c.758C= (p.Ala253=) c.731C= (p.Ala244=) c.787C= (p.His263=) c.667C= (p.His223=) | dbSNP |