| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980357G>C | CA361706213 | SLC26A2 | c.764G>C (p.Gly255Ala) c.372+2006G>C (n.372+2006G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.149980357G>A | CA252992 | SLC26A2 | c.764G>A (p.Gly255Glu) c.372+2006G>A (n.372+2006G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.149980357G= | CA1590738327 | SLC26A2 | c.764G= (p.Gly255=) c.372+2006G= (n.372+2006G=) | dbSNP |