| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.3230587C>T | CA250437 | SLC4A11 | c.1343G>A (p.Gly448Asp) c.1274G>A (p.Gly425Asp) c.1214G>A (p.Gly405Asp) c.1229G>A (p.Gly410Asp) c.1391G>A (p.Gly464Asp) c.1472G>A (p.Gly491Asp) c.1286G>A (p.Gly429Asp) c.1712G>A (p.Gly571Asp) c.1310G>A (p.Gly437Asp) c.1826G>A (p.Gly609Asp) n.1511G>A c.*58G>A (n.*58G>A) n.1936G>A c.1358G>A (p.Gly453Asp) n.1901G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.3230587C= | CA2346476110 | SLC4A11 | c.1343G= (p.Gly448=) c.1274G= (p.Gly425=) c.1214G= (p.Gly405=) c.1229G= (p.Gly410=) c.1391G= (p.Gly464=) c.1472G= (p.Gly491=) c.1286G= (p.Gly429=) c.1712G= (p.Gly571=) c.1310G= (p.Gly437=) c.1826G= (p.Gly609=) n.1511G= c.*58G= (n.*58G=) n.1936G= c.1358G= (p.Gly453=) n.1901G= | dbSNP |
| 20 | g.3230587C>A | CA408088691 | SLC4A11 | c.1343G>T (p.Gly448Val) c.1274G>T (p.Gly425Val) c.1214G>T (p.Gly405Val) c.1229G>T (p.Gly410Val) c.1391G>T (p.Gly464Val) c.1472G>T (p.Gly491Val) c.1286G>T (p.Gly429Val) c.1712G>T (p.Gly571Val) c.1310G>T (p.Gly437Val) c.1826G>T (p.Gly609Val) n.1511G>T c.*58G>T (n.*58G>T) n.1936G>T c.1358G>T (p.Gly453Val) n.1901G>T | dbSNP gnomAD v4 |