Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.27373181_27373182delCA1160469873FCN3n.347_348del
c.348_349del (p.Leu117ProfsTer5)
c.315_316del (p.Leu106ProfsTer5)
n.498_499del
dbSNP
1g.27373182delCA117374FCN3n.348del
c.349del (p.Leu117SerfsTer?)
c.316del (p.Leu106SerfsTer?)
n.499del
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.27373182dupCA1160469874FCN3n.348dup
c.349dup (p.Leu117ProfsTer6)
c.316dup (p.Leu106ProfsTer6)
n.499dup
dbSNP

Number of alleles fetched