Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155238141A>CCA342721173GBA1c.754T>G (p.Phe252Val)
c.607T>G (p.Phe203Val)
c.493T>G (p.Phe165Val)
n.541T>G
n.339+1832T>G
n.359T>G
n.377T>G
dbSNP gnomAD v2 gnomAD v4
1g.155238141A>TCA221413GBA1c.754T>A (p.Phe252Ile)
c.607T>A (p.Phe203Ile)
c.493T>A (p.Phe165Ile)
n.541T>A
n.339+1832T>A
n.359T>A
n.377T>A
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched