Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.49246763A>TCA658683016CCDC22c.747A>T (p.Gln249His)
c.744A>T (p.Gln248His)
n.849A>T
n.862A>T
dbSNP
Xg.49246763A>GCA329131474CCDC22c.747A>G (p.Gln249=)
c.744A>G (p.Gln248=)
n.849A>G
n.862A>G
ClinVar dbSNP gnomAD v3 gnomAD v4
Xg.49246763A>CCA412936857CCDC22c.747A>C (p.Gln249His)
c.744A>C (p.Gln248His)
n.849A>C
n.862A>C
dbSNP

Number of alleles fetched