| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173232898G>A | CA248606 | NKX2-5 | c.646C>T (p.Arg216Cys) c.*599C>T (n.*599C>T) c.*445C>T (n.*445C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.173232898G>T | CA362161439 | NKX2-5 | c.646C>A (p.Arg216Ser) c.*599C>A (n.*599C>A) c.*445C>A (n.*445C>A) | dbSNP gnomAD v4 |
| 5 | g.173232898G= | CA1601615867 | NKX2-5 | c.646C= (p.Arg216=) c.*599C= (n.*599C=) c.*445C= (n.*445C=) | dbSNP |