Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3770659G>TCA394550756CREBBPc.2791C>A (p.Gln931Lys)
c.2677C>A (p.Gln893Lys)
c.1396C>A (p.Gln466Lys)
n.45C>A
c.2746C>A (p.Gln916Lys)
c.2464-1306C>A (n.2464-1306C>A)
c.2737C>A (p.Gln913Lys)
c.2038C>A (p.Gln680Lys)
c.2785C>A (p.Gln929Lys)
dbSNP
16g.3770659G>ACA271379CREBBPc.2791C>T (p.Gln931Ter)
c.2677C>T (p.Gln893Ter)
c.1396C>T (p.Gln466Ter)
n.45C>T
c.2746C>T (p.Gln916Ter)
c.2464-1306C>T (n.2464-1306C>T)
c.2737C>T (p.Gln913Ter)
c.2038C>T (p.Gln680Ter)
c.2785C>T (p.Gln929Ter)
ClinVar dbSNP
16g.3770659G>CCA394550754CREBBPc.2791C>G (p.Gln931Glu)
c.2677C>G (p.Gln893Glu)
c.1396C>G (p.Gln466Glu)
n.45C>G
c.2746C>G (p.Gln916Glu)
c.2464-1306C>G (n.2464-1306C>G)
c.2737C>G (p.Gln913Glu)
c.2038C>G (p.Gln680Glu)
c.2785C>G (p.Gln929Glu)
dbSNP

Number of alleles fetched