| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114356011G>A | CA16619436 | TBX5 | c.1078C>T (p.Gln360Ter) c.928C>T (p.Gln310Ter) c.1126C>T (p.Gln376Ter) | ClinVar dbSNP |
| 12 | g.114356011G= | CA2064633661 | TBX5 | c.1078C= (p.Gln360=) c.928C= (p.Gln310=) c.1126C= (p.Gln376=) | dbSNP |