| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.33998778A>C | CA3226158 | AMACR,C1QTNF3-AMACR | c.602T>G (p.Leu201Trp) c.441T>G (p.Ile147Met) c.*28T>G (n.*28T>G) c.557T>G (p.Leu186Trp) n.453T>G n.958T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.33998778A>G | CA151762 | AMACR,C1QTNF3-AMACR | c.602T>C (p.Leu201Ser) c.441T>C (p.Ile147=) c.*28T>C (n.*28T>C) c.557T>C (p.Leu186Ser) n.453T>C n.958T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.33998778A= | CA1538240578 | AMACR,C1QTNF3-AMACR | c.602T= (p.Leu201=) c.441T= (p.Ile147=) c.*28T= (n.*28T=) c.557T= (p.Leu186=) n.453T= n.958T= | dbSNP |