| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114394817G>C | CA386861447 | TBX5 | c.587C>G (p.Ser196Ter) c.437C>G (p.Ser146Ter) c.635C>G (p.Ser212Ter) | ClinVar dbSNP |
| 12 | g.114394817G>T | CA10603231 | TBX5 | c.587C>A (p.Ser196Ter) c.437C>A (p.Ser146Ter) c.635C>A (p.Ser212Ter) | ClinVar dbSNP |