| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.33998663C>A | CA151765 | AMACR,C1QTNF3-AMACR | c.717G>T (p.Gln239His) c.556G>T (p.Val186Phe) c.*143G>T (n.*143G>T) c.672G>T (p.Gln224His) n.568G>T n.1073G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.33998663C= | CA1538240357 | AMACR,C1QTNF3-AMACR | c.717G= (p.Gln239=) c.556G= (p.Val186=) c.*143G= (n.*143G=) c.672G= (p.Gln224=) n.568G= n.1073G= | dbSNP |