| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.123332657G>A | CA2577461 | ADCY5 | c.102C>T (p.Ile34=) c.390C>T (p.Ile130=) c.1425C>T (p.Ile475=) c.375C>T (p.Ile125=) c.*92C>T (n.*92C>T) c.324C>T (p.Ile108=) c.426C>T (p.Ile142=) c.336C>T (p.Ile112=) c.327C>T (p.Ile109=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.123332657G>C | CA204644 | ADCY5 | c.102C>G (p.Ile34Met) c.390C>G (p.Ile130Met) c.1425C>G (p.Ile475Met) c.375C>G (p.Ile125Met) c.*92C>G (n.*92C>G) c.324C>G (p.Ile108Met) c.426C>G (p.Ile142Met) c.336C>G (p.Ile112Met) c.327C>G (p.Ile109Met) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.123332657G= | CA1398347266 | ADCY5 | c.102C= (p.Ile34=) c.390C= (p.Ile130=) c.1425C= (p.Ile475=) c.375C= (p.Ile125=) c.*92C= (n.*92C=) c.324C= (p.Ile108=) c.426C= (p.Ile142=) c.336C= (p.Ile112=) c.327C= (p.Ile109=) | dbSNP |