| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114401890C>A | CA16619437 | TBX5 | c.178G>T (p.Glu60Ter) c.28G>T (p.Glu10Ter) n.229G>T c.226G>T (p.Glu76Ter) | ClinVar dbSNP |
| 12 | g.114401890C= | CA2064655195 | TBX5 | c.178G= (p.Glu60=) c.28G= (p.Glu10=) n.229G= c.226G= (p.Glu76=) | dbSNP |