Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.107919017G>ACA312474DLDc.1382G>A (p.Gly461Glu)
c.*1056G>A (n.*1056G>A)
c.1238G>A (p.Gly413Glu)
c.1313G>A (p.Gly438Glu)
c.1085G>A (p.Gly362Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.107919017G>CCA368859388DLDc.1382G>C (p.Gly461Ala)
c.*1056G>C (n.*1056G>C)
c.1238G>C (p.Gly413Ala)
c.1313G>C (p.Gly438Ala)
c.1085G>C (p.Gly362Ala)
dbSNP

Number of alleles fetched