Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.44260441G>T | CA8600602 | SLC4A1 | c.448C>A (p.Arg150=) n.382C>A n.587C>A c.253C>A (p.Arg85=) | dbSNP ExAC gnomAD v2 |
17 | g.44260441G>C | CA8600601 | SLC4A1 | c.448C>G (p.Arg150Gly) n.382C>G n.587C>G c.253C>G (p.Arg85Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.44260441G>A | CA127385 | SLC4A1 | c.448C>T (p.Arg150Ter) n.382C>T n.587C>T c.253C>T (p.Arg85Ter) | ClinVar dbSNP gnomAD v4 |