| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.114398627del | CA16603272 | TBX5 | c.456del (p.Val153SerfsTer21) c.306del (p.Val103SerfsTer21) n.507del c.504del (p.Val169SerfsTer21) | ClinVar dbSNP |
| 12 | g.114398627G= | CA2064649518 | TBX5 | c.456C= (p.Leu152=) c.306C= (p.Leu102=) n.507C= c.504C= (p.Leu168=) | dbSNP dbSNP |