Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107702038G>A | CA261423 | SLC26A4 | c.2015G>A (p.Gly672Glu) c.726G>A n.302G>A c.1937G>A (p.Gly646Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.107702038G>C | CA368843829 | SLC26A4 | c.2015G>C (p.Gly672Ala) c.726G>C n.302G>C c.1937G>C (p.Gly646Ala) | dbSNP gnomAD v2 gnomAD v4 |