| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.73416259G>A | CA127906 | ALB | c.1195G>A (p.Asp399Asn) c.850G>A (p.Asp284Asn) c.619G>A (p.Asp207Asn) c.*474G>A (n.*474G>A) n.515G>A c.745G>A (p.Asp249Asn) n.881G>A c.728G>A c.556G>A (p.Asp186Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73416259G>C | CA170808 | ALB | c.1195G>C (p.Asp399His) c.850G>C (p.Asp284His) c.619G>C (p.Asp207His) c.*474G>C (n.*474G>C) n.515G>C c.745G>C (p.Asp249His) n.881G>C c.728G>C c.556G>C (p.Asp186His) | ClinVar dbSNP gnomAD v4 |
| 4 | g.73416259G= | CA1468144727 | ALB | c.1195G= (p.Asp399=) c.850G= (p.Asp284=) c.619G= (p.Asp207=) c.*474G= (n.*474G=) n.515G= c.745G= (p.Asp249=) n.881G= c.728G= c.556G= (p.Asp186=) | dbSNP |