| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.36223405G>A | CA253707 | CLTA,GNE | c.1472C>T (p.Ala491Val) c.1202C>T (p.Ala401Val) c.1379C>T (p.Ala460Val) c.485+19226G>A (n.485+19226G>A) c.1049C>T (p.Ala350Val) c.1364C>T (p.Ala455Val) c.1319C>T (p.Ala440Val) c.1226C>T (p.Ala409Val) | ClinVar dbSNP |
| 9 | g.36223405G= | CA1846334388 | CLTA,GNE | c.1472C= (p.Ala491=) c.1202C= (p.Ala401=) c.1379C= (p.Ala460=) c.485+19226G= (n.485+19226G=) c.1049C= (p.Ala350=) c.1364C= (p.Ala455=) c.1319C= (p.Ala440=) c.1226C= (p.Ala409=) | dbSNP |