Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.24127684C>T | CA122487 | THRB | c.959G>A (p.Arg320His) c.*1588G>A (n.*1588G>A) c.1004G>A (p.Arg335His) c.866G>A (p.Arg289His) | ClinVar dbSNP gnomAD v4 |
3 | g.24127684C>A | CA122501 | THRB | c.959G>T (p.Arg320Leu) c.*1588G>T (n.*1588G>T) c.1004G>T (p.Arg335Leu) c.866G>T (p.Arg289Leu) | ClinVar dbSNP |