Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.75840317G>ACA252031UNC13Dc.747C>T (p.Ala249=)
c.748C>T (p.Arg250Ter)
c.766C>T (p.Arg256Ter)
c.117+3904C>T (n.117+3904C>T)
n.769C>T
c.709C>T (p.Arg237Ter)
n.847C>T
c.745C>T (p.Arg249Ter)
c.157C>T (p.Arg53Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.75840317G>CCA8773278UNC13Dc.747C>G (p.Ala249=)
c.748C>G (p.Arg250Gly)
c.766C>G (p.Arg256Gly)
c.117+3904C>G (n.117+3904C>G)
n.769C>G
c.709C>G (p.Arg237Gly)
n.847C>G
c.745C>G (p.Arg249Gly)
c.157C>G (p.Arg53Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched