Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67490170A>TCA344138AIPc.578A>T
c.412A>T (p.Lys138Ter)
n.1113A>T
c.468+715A>T (n.468+715A>T)
c.232A>T (p.Lys78Ter)
c.601A>T (p.Lys201Ter)
c.424A>T (p.Lys142Ter)
c.421A>T (p.Lys141Ter)
c.253A>T (p.Lys85Ter)
ClinVar dbSNP
11g.67490170A=CA1980172329AIPc.578A=
c.412A= (p.Lys138=)
n.1113A=
c.468+715A= (n.468+715A=)
c.232A= (p.Lys78=)
c.601A= (p.Lys201=)
c.424A= (p.Lys142=)
c.421A= (p.Lys141=)
c.253A= (p.Lys85=)
dbSNP
11g.67490170A>CCA381551102AIPc.578A>C
c.412A>C (p.Lys138Gln)
n.1113A>C
c.468+715A>C (n.468+715A>C)
c.232A>C (p.Lys78Gln)
c.601A>C (p.Lys201Gln)
c.424A>C (p.Lys142Gln)
c.421A>C (p.Lys141Gln)
c.253A>C (p.Lys85Gln)
ClinVar dbSNP

Number of alleles fetched