| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.73418232G>C | CA357244886 | ALB | c.1573G>C (p.Glu525Gln) c.1228G>C (p.Glu410Gln) c.997G>C (p.Glu333Gln) c.*852G>C (n.*852G>C) n.227G>C c.1123G>C (p.Glu375Gln) n.1120G>C c.1106G>C c.934G>C (p.Glu312Gln) | dbSNP gnomAD v4 |
| 4 | g.73418232G>A | CA127912 | ALB | c.1573G>A (p.Glu525Lys) c.1228G>A (p.Glu410Lys) c.997G>A (p.Glu333Lys) c.*852G>A (n.*852G>A) n.227G>A c.1123G>A (p.Glu375Lys) n.1120G>A c.1106G>A c.934G>A (p.Glu312Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.73418232G= | CA1468146924 | ALB | c.1573G= (p.Glu525=) c.1228G= (p.Glu410=) c.997G= (p.Glu333=) c.*852G= (n.*852G=) n.227G= c.1123G= (p.Glu375=) n.1120G= c.1106G= c.934G= (p.Glu312=) | dbSNP |