| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173232776A>C | CA10586352 | NKX2-5 | c.768T>G (p.Tyr256Ter) c.*721T>G (n.*721T>G) c.*567T>G (n.*567T>G) | ClinVar dbSNP |
| 5 | g.173232776A>T | CA212659 | NKX2-5 | c.768T>A (p.Tyr256Ter) c.*721T>A (n.*721T>A) c.*567T>A (n.*567T>A) | ClinVar dbSNP |
| 5 | g.173232776A= | CA1601615800 | NKX2-5 | c.768T= (p.Tyr256=) c.*721T= (n.*721T=) c.*567T= (n.*567T=) | dbSNP |