| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3230515C>T | CA114916 | SLC4A11 | c.1415G>A (p.Arg472Lys) c.1346G>A (p.Arg449Lys) c.1286G>A (p.Arg429Lys) c.1301G>A (p.Arg434Lys) c.1463G>A (p.Arg488Lys) c.1544G>A (p.Arg515Lys) n.46G>A c.1358G>A (p.Arg453Lys) c.1784G>A (p.Arg595Lys) c.1382G>A (p.Arg461Lys) c.1898G>A (p.Arg633Lys) n.1583G>A n.2008G>A c.1430G>A (p.Arg477Lys) n.1973G>A | ClinVar dbSNP |
| 20 | g.3230515C= | CA2346476086 | SLC4A11 | c.1415G= (p.Arg472=) c.1346G= (p.Arg449=) c.1286G= (p.Arg429=) c.1301G= (p.Arg434=) c.1463G= (p.Arg488=) c.1544G= (p.Arg515=) n.46G= c.1358G= (p.Arg453=) c.1784G= (p.Arg595=) c.1382G= (p.Arg461=) c.1898G= (p.Arg633=) n.1583G= n.2008G= c.1430G= (p.Arg477=) n.1973G= | dbSNP |