Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.67490804C>ACA117126AIPc.1111C>A
c.615C>A (p.Tyr205Ter)
n.1646C>A
c.469-193C>A (n.469-193C>A)
c.435C>A (p.Tyr145Ter)
c.804C>A (p.Tyr268Ter)
c.796C>A (p.Leu266Ile)
c.627C>A (p.Tyr209Ter)
c.793C>A (p.Leu265Ile)
c.624C>A (p.Tyr208Ter)
ClinVar dbSNP gnomAD v4
11g.67490804C>TCA475509423AIPc.1111C>T
c.615C>T (p.Tyr205=)
n.1646C>T
c.469-193C>T (n.469-193C>T)
c.435C>T (p.Tyr145=)
c.804C>T (p.Tyr268=)
c.796C>T (p.Leu266Phe)
c.627C>T (p.Tyr209=)
c.793C>T (p.Leu265Phe)
c.624C>T (p.Tyr208=)
ClinVar dbSNP

Number of alleles fetched