Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.1757343A>TCA258041CTSDc.685T>A (p.Phe229Ile)
c.580T>A (p.Phe194Ile)
c.110T>A
c.664T>A (p.Phe222Ile)
c.679T>A (p.Phe227Ile)
n.283T>A
n.3113T>A
n.1080T>A
c.*546T>A (n.*546T>A)
c.85T>A (p.Phe29Ile)
c.640T>A (p.Phe214Ile)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.1757343A=CA1947827573CTSDc.685T= (p.Phe229=)
c.580T= (p.Phe194=)
c.110T=
c.664T= (p.Phe222=)
c.679T= (p.Phe227=)
n.283T=
n.3113T=
n.1080T=
c.*546T= (n.*546T=)
c.85T= (p.Phe29=)
c.640T= (p.Phe214=)
dbSNP

Number of alleles fetched