Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.173232767G>ACA447975110NKX2-5c.777C>T (p.Tyr259=)
c.*730C>T (n.*730C>T)
c.*576C>T (n.*576C>T)
dbSNP gnomAD v3 gnomAD v4
5g.173232767G>CCA16605324NKX2-5c.777C>G (p.Tyr259Ter)
c.*730C>G (n.*730C>G)
c.*576C>G (n.*576C>G)
ClinVar dbSNP

Number of alleles fetched