Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.114385521C>TCA254298TBX5c.710G>A (p.Arg237Gln)
c.560G>A (p.Arg187Gln)
c.758G>A (p.Arg253Gln)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.114385521C>GCA16042869TBX5c.710G>C (p.Arg237Pro)
c.560G>C (p.Arg187Pro)
c.758G>C (p.Arg253Pro)
ClinVar dbSNP

Number of alleles fetched