| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3228687G>A | CA114927 | SLC4A11 | c.2213C>T (p.Thr738Met) c.2144C>T (p.Thr715Met) c.2084C>T (p.Thr695Met) c.2099C>T (p.Thr700Met) c.2261C>T (p.Thr754Met) c.2342C>T (p.Thr781Met) c.*361C>T (n.*361C>T) c.2582C>T (p.Thr861Met) c.2156C>T (p.Thr719Met) c.2180C>T (p.Thr727Met) n.2311C>T c.2576C>T (p.Thr859Met) n.2756C>T n.2736C>T c.2228C>T (p.Thr743Met) n.2721C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.3228687G>T | CA408086472 | SLC4A11 | c.2213C>A (p.Thr738Lys) c.2144C>A (p.Thr715Lys) c.2084C>A (p.Thr695Lys) c.2099C>A (p.Thr700Lys) c.2261C>A (p.Thr754Lys) c.2342C>A (p.Thr781Lys) c.*361C>A (n.*361C>A) c.2582C>A (p.Thr861Lys) c.2156C>A (p.Thr719Lys) c.2180C>A (p.Thr727Lys) n.2311C>A c.2576C>A (p.Thr859Lys) n.2756C>A n.2736C>A c.2228C>A (p.Thr743Lys) n.2721C>A | dbSNP |