Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.101144812G>ACA144793NALCNc.1924C>T (p.Gln642Ter)
c.116C>T
c.1840-20131C>T (n.1840-20131C>T)
c.1837C>T (p.Gln613Ter)
n.2078C>T
c.1981C>T (p.Gln661Ter)
c.1894C>T (p.Gln632Ter)
c.1897-20131C>T (n.1897-20131C>T)
c.1477C>T (p.Gln493Ter)
c.1159C>T (p.Gln387Ter)
ClinVar dbSNP
13g.101144812G>CCA388671747NALCNc.1924C>G (p.Gln642Glu)
c.116C>G
c.1840-20131C>G (n.1840-20131C>G)
c.1837C>G (p.Gln613Glu)
n.2078C>G
c.1981C>G (p.Gln661Glu)
c.1894C>G (p.Gln632Glu)
c.1897-20131C>G (n.1897-20131C>G)
c.1477C>G (p.Gln493Glu)
c.1159C>G (p.Gln387Glu)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched