Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.107710126C>A | CA368845842 | SLC26A4 | c.2162C>A (p.Thr721Lys) c.818C>A n.377-29C>A c.2084C>A (p.Thr695Lys) | ClinVar dbSNP gnomAD v4 |
7 | g.107710126C>T | CA253308 | SLC26A4 | c.2162C>T (p.Thr721Met) c.818C>T n.377-29C>T c.2084C>T (p.Thr695Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |