Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.50915869G>CCA389688500PYGLc.1195C>G (p.Arg399Gly)
n.72C>G
c.1093C>G (p.Arg365Gly)
ClinVar dbSNP
14g.50915869G>ACA341904PYGLc.1195C>T (p.Arg399Ter)
n.72C>T
c.1093C>T (p.Arg365Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched