Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44251206G>A | CA127403 | SLC4A1 | c.2608C>T (p.Arg870Trp) c.1510C>T (p.Arg504Trp) c.2413C>T (p.Arg805Trp) c.2518C>T (p.Arg840Trp) | ClinVar dbSNP gnomAD v4 |
17 | g.44251206G>T | CA500618532 | SLC4A1 | c.2608C>A (p.Arg870=) c.1510C>A (p.Arg504=) c.2413C>A (p.Arg805=) c.2518C>A (p.Arg840=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |