| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.20626721C>A | CA5921393 | SLC6A5 | c.1274C>A (p.Thr425Lys) c.*571C>A (n.*571C>A) c.572C>A (p.Thr191Lys) c.398C>A (p.Thr133Lys) c.233C>A (p.Thr78Lys) | dbSNP ExAC gnomAD v2 |
| 11 | g.20626721C>T | CA340458 | SLC6A5 | c.1274C>T (p.Thr425Met) c.*571C>T (n.*571C>T) c.572C>T (p.Thr191Met) c.398C>T (p.Thr133Met) c.233C>T (p.Thr78Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |