| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.24127623C>G | CA122454 | THRB | c.1020G>C (p.Gln340His) c.*1649G>C (n.*1649G>C) c.1065G>C (p.Gln355His) c.927G>C (p.Gln309His) c.973+47G>C (n.973+47G>C) | ClinVar dbSNP |
| 3 | g.24127623C>T | CA2287135 | THRB | c.1020G>A (p.Gln340=) c.*1649G>A (n.*1649G>A) c.1065G>A (p.Gln355=) c.927G>A (p.Gln309=) c.973+47G>A (n.973+47G>A) | dbSNP ExAC gnomAD v2 |