| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44254616C>T | CA127408 | SLC4A1 | c.1937G>A (p.Arg646Gln) c.839G>A (p.Arg280Gln) c.1742G>A (p.Arg581Gln) c.1847G>A (p.Arg616Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44254616C>G | CA399783305 | SLC4A1 | c.1937G>C (p.Arg646Pro) c.839G>C (p.Arg280Pro) c.1742G>C (p.Arg581Pro) c.1847G>C (p.Arg616Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44254616C= | CA2261308290 | SLC4A1 | c.1937G= (p.Arg646=) c.839G= (p.Arg280=) c.1742G= (p.Arg581=) c.1847G= (p.Arg616=) | dbSNP |