Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.155237470G>ACA421024980GBA1c.870C>T (p.Phe290=)
c.723C>T (p.Phe241=)
c.609C>T (p.Phe203=)
n.340-1182C>T
n.475C>T
n.493C>T
dbSNP gnomAD v4
1g.155237470G>TCA253114GBA1c.870C>A (p.Phe290Leu)
c.723C>A (p.Phe241Leu)
c.609C>A (p.Phe203Leu)
n.340-1182C>A
n.475C>A
n.493C>A
ClinVar dbSNP

Number of alleles fetched