Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.58444158C>TCA10654767KIAA0586n.480C>T
c.535C>T (p.Gln179Ter)
n.1336C>T
c.790C>T (p.Gln264Ter)
c.745C>T (p.Gln249Ter)
n.696C>T
c.*356C>T (n.*356C>T)
n.1022C>T
c.949C>T (p.Gln317Ter)
c.658C>T (p.Gln220Ter)
n.380C>T
c.370C>T (p.Gln124Ter)
c.913C>T (p.Gln305Ter)
c.394C>T (p.Gln132Ter)
ClinVar dbSNP gnomAD v4
14g.58444158C>ACA389863031KIAA0586n.480C>A
c.535C>A (p.Gln179Lys)
n.1336C>A
c.790C>A (p.Gln264Lys)
c.745C>A (p.Gln249Lys)
n.696C>A
c.*356C>A (n.*356C>A)
n.1022C>A
c.949C>A (p.Gln317Lys)
c.658C>A (p.Gln220Lys)
n.380C>A
c.370C>A (p.Gln124Lys)
c.913C>A (p.Gln305Lys)
c.394C>A (p.Gln132Lys)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched