| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.24122919A>C | CA16044050 | THRB | c.1351T>G (p.Phe451Val) c.*1980T>G (n.*1980T>G) c.1396T>G (p.Phe466Val) c.1258T>G (p.Phe420Val) c.1180T>G (p.Phe394Val) | ClinVar dbSNP |
| 3 | g.24122919A>G | CA351886511 | THRB | c.1351T>C (p.Phe451Leu) c.*1980T>C (n.*1980T>C) c.1396T>C (p.Phe466Leu) c.1258T>C (p.Phe420Leu) c.1180T>C (p.Phe394Leu) | ClinVar dbSNP |