| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44254617G>A | CA127400 | SLC4A1 | c.1936C>T (p.Arg646Trp) c.838C>T (p.Arg280Trp) c.1741C>T (p.Arg581Trp) c.1846C>T (p.Arg616Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44254617G>T | CA290928566 | SLC4A1 | c.1936C>A (p.Arg646=) c.838C>A (p.Arg280=) c.1741C>A (p.Arg581=) c.1846C>A (p.Arg616=) | dbSNP gnomAD v3 gnomAD v4 |