| 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 |
| 20 | g.3228687G= | CA2346475118 | SLC4A11 | c.2213C= (p.Thr738=) c.2144C= (p.Thr715=) c.2084C= (p.Thr695=) c.2099C= (p.Thr700=) c.2261C= (p.Thr754=) c.2342C= (p.Thr781=) c.*361C= (n.*361C=) c.2582C= (p.Thr861=) c.2156C= (p.Thr719=) c.2180C= (p.Thr727=) n.2311C= c.2576C= (p.Thr859=) n.2756C= n.2736C= c.2228C= (p.Thr743=) n.2721C= | dbSNP |
| 20 | g.3228687G>C | CA408086471 | SLC4A11 | c.2213C>G (p.Thr738Arg) c.2144C>G (p.Thr715Arg) c.2084C>G (p.Thr695Arg) c.2099C>G (p.Thr700Arg) c.2261C>G (p.Thr754Arg) c.2342C>G (p.Thr781Arg) c.*361C>G (n.*361C>G) c.2582C>G (p.Thr861Arg) c.2156C>G (p.Thr719Arg) c.2180C>G (p.Thr727Arg) n.2311C>G c.2576C>G (p.Thr859Arg) n.2756C>G n.2736C>G c.2228C>G (p.Thr743Arg) n.2721C>G | dbSNP gnomAD v4 |