| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.126577199G>T | CA3389734 | ALDH7A1 | c.530C>A (p.Ala177Glu) c.406C>A (p.His136Asn) c.*439C>A (n.*439C>A) c.119C>A c.464C>A (p.Ala155Glu) c.78C>A n.1252C>A c.528C>A n.425C>A c.*339C>A (n.*339C>A) n.248C>A c.410C>A (p.Ala137Glu) c.690C>A (n.690C>A) c.575C>A (p.Ala192Glu) c.329C>A (p.Ala110Glu) c.183C>A c.476C>A (p.Ala159Glu) c.*472C>A (n.*472C>A) n.57C>A c.611C>A (p.Ala204Glu) c.443C>A (p.Ala148Glu) n.361C>A c.446C>A (p.Ala149Glu) c.125C>A (p.Ala42Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.126577199G>A | CA360731226 | ALDH7A1 | c.530C>T (p.Ala177Val) c.406C>T (p.His136Tyr) c.*439C>T (n.*439C>T) c.119C>T c.464C>T (p.Ala155Val) c.78C>T n.1252C>T c.528C>T n.425C>T c.*339C>T (n.*339C>T) n.248C>T c.410C>T (p.Ala137Val) c.690C>T (n.690C>T) c.575C>T (p.Ala192Val) c.329C>T (p.Ala110Val) c.183C>T c.476C>T (p.Ala159Val) c.*472C>T (n.*472C>T) n.57C>T c.611C>T (p.Ala204Val) c.443C>T (p.Ala148Val) n.361C>T c.446C>T (p.Ala149Val) c.125C>T (p.Ala42Val) | dbSNP gnomAD v4 |
| 5 | g.126577199G= | CA1580455218 | ALDH7A1 | c.530C= (p.Ala177=) c.406C= (p.His136=) c.*439C= (n.*439C=) c.119C= c.464C= (p.Ala155=) c.78C= n.1252C= c.528C= n.425C= c.*339C= (n.*339C=) n.248C= c.410C= (p.Ala137=) c.690C= (n.690C=) c.575C= (p.Ala192=) c.329C= (p.Ala110=) c.183C= c.476C= (p.Ala159=) c.*472C= (n.*472C=) n.57C= c.611C= (p.Ala204=) c.443C= (p.Ala148=) n.361C= c.446C= (p.Ala149=) c.125C= (p.Ala42=) | dbSNP |