| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114399574T>A | CA163401 | TBX5 | c.301A>T (p.Ile101Phe) c.151A>T (p.Ile51Phe) n.352A>T c.349A>T (p.Ile117Phe) | ClinVar dbSNP |
| 12 | g.114399574T= | CA2064651506 | TBX5 | c.301A= (p.Ile101=) c.151A= (p.Ile51=) n.352A= c.349A= (p.Ile117=) | dbSNP |