| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149977983G>T | CA263260 | SLC26A2 | n.563G>T c.331G>T (p.Asp111Tyr) c.4G>T (p.Asp2Tyr) | ClinVar dbSNP |
| 5 | g.149977983G= | CA1590737360 | SLC26A2 | n.563G= c.331G= (p.Asp111=) c.4G= (p.Asp2=) | dbSNP |
| 5 | g.149977983G>A | CA361704768 | SLC26A2 | n.563G>A c.331G>A (p.Asp111Asn) c.4G>A (p.Asp2Asn) | dbSNP gnomAD v4 |