Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.75004850C>TCA116770EIF2B2c.547C>T (p.Arg183Ter)
c.520C>T (p.Arg174Ter)
n.842C>T
n.605C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004850C=CA2147299046EIF2B2c.547C= (p.Arg183=)
c.520C= (p.Arg174=)
n.842C=
n.605C=
 dbSNP

Number of alleles fetched