Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.173232767G>A | CA447975110 | NKX2-5 | c.777C>T (p.Tyr259=) c.*730C>T (n.*730C>T) c.*576C>T (n.*576C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.173232767G>C | CA16605324 | NKX2-5 | c.777C>G (p.Tyr259Ter) c.*730C>G (n.*730C>G) c.*576C>G (n.*576C>G) | ClinVar dbSNP |