| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149981737C>T | CA252994 | SLC26A2 | c.2144C>T (p.Ala715Val) c.372+3386C>T (n.372+3386C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149981737C>A | CA361709911 | SLC26A2 | c.2144C>A (p.Ala715Glu) c.372+3386C>A (n.372+3386C>A) | dbSNP |
| 5 | g.149981737C= | CA1590738922 | SLC26A2 | c.2144C= (p.Ala715=) c.372+3386C= (n.372+3386C=) | dbSNP |