| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114385561G>A | CA16042784 | TBX5 | c.670C>T (p.Gln224Ter) c.520C>T (p.Gln174Ter) c.718C>T (p.Gln240Ter) | ClinVar dbSNP |
| 12 | g.114385561G= | CA2064648432 | TBX5 | c.670C= (p.Gln224=) c.520C= (p.Gln174=) c.718C= (p.Gln240=) | dbSNP |