Chr Mutation (hg38) CAid Gene Transcript Linkouts
4g.73412027A>CCA127955ALBc.745A>C (p.Lys249Gln)
c.400A>C (p.Lys134Gln)
c.169A>C (p.Lys57Gln)
c.*24A>C (n.*24A>C)
c.295A>C (p.Lys99Gln)
n.431A>C
n.62A>C
c.278A>C
c.490+2665A>C (n.490+2665A>C)
c.486+2951A>C (n.486+2951A>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
4g.73412027A>GCA2959452ALBc.745A>G (p.Lys249Glu)
c.400A>G (p.Lys134Glu)
c.169A>G (p.Lys57Glu)
c.*24A>G (n.*24A>G)
c.295A>G (p.Lys99Glu)
n.431A>G
n.62A>G
c.278A>G
c.490+2665A>G (n.490+2665A>G)
c.486+2951A>G (n.486+2951A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched