| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.149980511del | CA16040992 | SLC26A2 | c.918del (p.Thr307ProfsTer?) c.372+2160del (n.372+2160del) | ClinVar dbSNP |
| 5 | g.149980511C= | CA3124061282 | SLC26A2 | c.918C= (p.Ile306=) c.372+2160C= (n.372+2160C=) | dbSNP dbSNP |