| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149977699C>T | CA361703853 | SLC26A2 | n.279C>T c.47C>T (p.Ser16Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.149977699C>G | CA263266 | SLC26A2 | n.279C>G c.47C>G (p.Ser16Ter) | ClinVar dbSNP |
| 5 | g.149977699C= | CA1590737247 | SLC26A2 | n.279C= c.47C= (p.Ser16=) | dbSNP |