| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114398640C>T | CA16613732 | TBX5 | c.443G>A (p.Trp148Ter) c.293G>A (p.Trp98Ter) n.494G>A c.491G>A (p.Trp164Ter) | ClinVar dbSNP |
| 12 | g.114398640C= | CA2064649588 | TBX5 | c.443G= (p.Trp148=) c.293G= (p.Trp98=) n.494G= c.491G= (p.Trp164=) | dbSNP |