Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.173233001C>TCA214178NKX2-5c.543G>A (p.Gln181=)
c.*496G>A (n.*496G>A)
c.*342G>A (n.*342G>A)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
5g.173233001C>GCA214180NKX2-5c.543G>C (p.Gln181His)
c.*496G>C (n.*496G>C)
c.*342G>C (n.*342G>C)
ClinVar dbSNP

Number of alleles fetched