| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.32091713G>A | CA10198189 | SLC5A1 | c.1231G>A (p.Ala411Thr) n.397G>A c.850G>A (p.Ala284Thr) n.591+15125C>T n.487-22910C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.32091713G>C | CA411308862 | SLC5A1 | c.1231G>C (p.Ala411Pro) n.397G>C c.850G>C (p.Ala284Pro) n.591+15125C>G n.487-22910C>G | dbSNP |