| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.173232696G>A | CA362161047 | NKX2-5 | c.848C>T (p.Pro283Leu) c.*801C>T (n.*801C>T) c.*647C>T (n.*647C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.173232696G>T | CA212679 | NKX2-5 | c.848C>A (p.Pro283Gln) c.*801C>A (n.*801C>A) c.*647C>A (n.*647C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |