| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114398679A>C | CA16044038 | TBX5 | c.404T>G (p.Leu135Arg) c.254T>G (p.Leu85Arg) n.455T>G c.452T>G (p.Leu151Arg) | ClinVar dbSNP |
| 12 | g.114398679A= | CA2064649757 | TBX5 | c.404T= (p.Leu135=) c.254T= (p.Leu85=) n.455T= c.452T= (p.Leu151=) | dbSNP |