| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2165284G>A | CA278473 | TH | c.1282C>T (p.Gln428Ter) c.1000C>T (p.Gln334Ter) c.1363C>T (p.Gln455Ter) c.1375C>T (p.Gln459Ter) c.1294C>T (p.Gln432Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.2165284G= | CA1948003512 | TH | c.1282C= (p.Gln428=) c.1000C= (p.Gln334=) c.1363C= (p.Gln455=) c.1375C= (p.Gln459=) c.1294C= (p.Gln432=) | dbSNP |