Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.75004889C>TCA7274978EIF2B2c.586C>T (p.Pro196Ser)
c.559C>T (p.Pro187Ser)
n.881C>T
n.644C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.75004889C=CA2147299065EIF2B2c.586C= (p.Pro196=)
c.559C= (p.Pro187=)
n.881C=
n.644C=
 dbSNP

Number of alleles fetched