Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.3739674G>CCA394564894CREBBPc.4184C>G (p.Ala1395Gly)
c.4070C>G (p.Ala1357Gly)
c.2819C>G (p.Ala940Gly)
c.490C>G
n.215+725C>G
n.3121C>G
c.4139C>G (p.Ala1380Gly)
c.3767C>G (p.Ala1256Gly)
c.4133+725C>G (n.4133+725C>G)
c.4130C>G (p.Ala1377Gly)
c.3431C>G (p.Ala1144Gly)
c.4178C>G (p.Ala1393Gly)
dbSNP
16g.3739674G>ACA394564893CREBBPc.4184C>T (p.Ala1395Val)
c.4070C>T (p.Ala1357Val)
c.2819C>T (p.Ala940Val)
c.490C>T
n.215+725C>T
n.3121C>T
c.4139C>T (p.Ala1380Val)
c.3767C>T (p.Ala1256Val)
c.4133+725C>T (n.4133+725C>T)
c.4130C>T (p.Ala1377Val)
c.3431C>T (p.Ala1144Val)
c.4178C>T (p.Ala1393Val)
dbSNP
16g.3739674G>TCA16620205CREBBPc.4184C>A (p.Ala1395Asp)
c.4070C>A (p.Ala1357Asp)
c.2819C>A (p.Ala940Asp)
c.490C>A
n.215+725C>A
n.3121C>A
c.4139C>A (p.Ala1380Asp)
c.3767C>A (p.Ala1256Asp)
c.4133+725C>A (n.4133+725C>A)
c.4130C>A (p.Ala1377Asp)
c.3431C>A (p.Ala1144Asp)
c.4178C>A (p.Ala1393Asp)
ClinVar dbSNP

Number of alleles fetched