| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980904dup | CA16040995 | SLC26A2 | c.1311dup (p.Ala438CysfsTer9) c.372+2553dup (n.372+2553dup) | ClinVar dbSNP gnomAD v4 |
| 5 | g.149980904T= | CA3124061284 | SLC26A2 | c.1311T= (p.Ser437=) c.372+2553T= (n.372+2553T=) | dbSNP |