| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.24127685G>A | CA122493 | THRB | c.958C>T (p.Arg320Cys) c.*1587C>T (n.*1587C>T) c.1003C>T (p.Arg335Cys) c.865C>T (p.Arg289Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.24127685G>T | CA351888876 | THRB | c.958C>A (p.Arg320Ser) c.*1587C>A (n.*1587C>A) c.1003C>A (p.Arg335Ser) c.865C>A (p.Arg289Ser) | ClinVar dbSNP |