Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67490316G>TCA344142AIPc.623G>T
c.457G>T (p.Glu153Ter)
n.1158G>T
c.469-681G>T (n.469-681G>T)
c.277G>T (p.Glu93Ter)
c.646G>T (p.Glu216Ter)
c.469G>T (p.Glu157Ter)
c.466G>T (p.Glu156Ter)
c.298G>T (p.Glu100Ter)
ClinVar dbSNP gnomAD v4
11g.67490316G>ACA381551465AIPc.623G>A
c.457G>A (p.Glu153Lys)
n.1158G>A
c.469-681G>A (n.469-681G>A)
c.277G>A (p.Glu93Lys)
c.646G>A (p.Glu216Lys)
c.469G>A (p.Glu157Lys)
c.466G>A (p.Glu156Lys)
c.298G>A (p.Glu100Lys)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched