| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980750C>T | CA263247 | SLC26A2 | c.1157C>T (p.Ala386Val) c.372+2399C>T (n.372+2399C>T) | ClinVar dbSNP |
| 5 | g.149980750C>G | CA3505393 | SLC26A2 | c.1157C>G (p.Ala386Gly) c.372+2399C>G (n.372+2399C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.149980750C= | CA1590738505 | SLC26A2 | c.1157C= (p.Ala386=) c.372+2399C= (n.372+2399C=) | dbSNP |