| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173233001C>T | CA214178 | NKX2-5 | c.543G>A (p.Gln181=) c.*496G>A (n.*496G>A) c.*342G>A (n.*342G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173233001C>G | CA214180 | NKX2-5 | c.543G>C (p.Gln181His) c.*496G>C (n.*496G>C) c.*342G>C (n.*342G>C) | ClinVar dbSNP |
| 5 | g.173233001C= | CA1601615933 | NKX2-5 | c.543G= (p.Gln181=) c.*496G= (n.*496G=) c.*342G= (n.*342G=) | dbSNP |