Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.2500822C>TCA339786TBC1D24c.1526C>T (p.Ala509Val)
c.1544C>T (p.Ala515Val)
c.965+3709C>T (n.965+3709C>T)
c.413C>T
c.*502C>T (n.*502C>T)
n.1726C>T
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.2500822C=CA2202262024TBC1D24c.1526C= (p.Ala509=)
c.1544C= (p.Ala515=)
c.965+3709C= (n.965+3709C=)
c.413C=
c.*502C= (n.*502C=)
n.1726C=
dbSNP

Number of alleles fetched