| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173233011G>A | CA212653 | NKX2-5 | c.533C>T (p.Thr178Met) c.*486C>T (n.*486C>T) c.*332C>T (n.*332C>T) | ClinVar dbSNP gnomAD v4 |
| 5 | g.173233011G= | CA1601615941 | NKX2-5 | c.533C= (p.Thr178=) c.*486C= (n.*486C=) c.*332C= (n.*332C=) | dbSNP |
| 5 | g.173233011G>T | CA362161669 | NKX2-5 | c.533C>A (p.Thr178Lys) c.*486C>A (n.*486C>A) c.*332C>A (n.*332C>A) | dbSNP gnomAD v4 |