| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173233036G>A | CA212654 | NKX2-5 | c.508C>T (p.Gln170Ter) c.*461C>T (n.*461C>T) c.*307C>T (n.*307C>T) | ClinVar dbSNP |
| 5 | g.173233036G= | CA1601615951 | NKX2-5 | c.508C= (p.Gln170=) c.*461C= (n.*461C=) c.*307C= (n.*307C=) | dbSNP |
| 5 | g.173233036G>C | CA362161721 | NKX2-5 | c.508C>G (p.Gln170Glu) c.*461C>G (n.*461C>G) c.*307C>G (n.*307C>G) | dbSNP gnomAD v4 |