Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.114399537C>TCA232585TBX5c.338G>A (p.Arg113Lys)
c.188G>A (p.Arg63Lys)
n.389G>A
c.386G>A (p.Arg129Lys)
ClinVar dbSNP COSMIC COSMIC
12g.114399537C>ACA244128654TBX5c.338G>T (p.Arg113Ile)
c.188G>T (p.Arg63Ile)
n.389G>T
c.386G>T (p.Arg129Ile)
dbSNP

Number of alleles fetched