| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980339C>G | CA16040991 | SLC26A2 | c.746C>G (p.Ser249Ter) c.372+1988C>G (n.372+1988C>G) | ClinVar dbSNP |
| 5 | g.149980339C>A | CA361706175 | SLC26A2 | c.746C>A (p.Ser249Ter) c.372+1988C>A (n.372+1988C>A) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980339C= | CA1590738318 | SLC26A2 | c.746C= (p.Ser249=) c.372+1988C= (n.372+1988C=) | dbSNP |