| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2166003G>T | CA379125792 | TH | c.1103C>A (p.Thr368Lys) c.*792C>A (n.*792C>A) c.821C>A (p.Thr274Lys) c.1184C>A (p.Thr395Lys) c.1196C>A (p.Thr399Lys) c.261C>A c.397C>A n.689C>A n.652C>A c.1115C>A (p.Thr372Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2166003G>A | CA16605881 | TH | c.1103C>T (p.Thr368Met) c.*792C>T (n.*792C>T) c.821C>T (p.Thr274Met) c.1184C>T (p.Thr395Met) c.1196C>T (p.Thr399Met) c.261C>T c.397C>T n.689C>T n.652C>T c.1115C>T (p.Thr372Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |