Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.114401863C>ACA254295TBX5c.205G>T (p.Glu69Ter)
c.55G>T (p.Glu19Ter)
n.256G>T
c.253G>T (p.Glu85Ter)
 ClinVar dbSNP
12g.114401863C>TCA386863098TBX5c.205G>A (p.Glu69Lys)
c.55G>A (p.Glu19Lys)
n.256G>A
c.253G>A (p.Glu85Lys)
 dbSNP COSMIC

Number of alleles fetched