Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121558767C>ACA383036055SORL1c.2840C>A (p.Thr947Lys)
n.568C>A
n.546C>A
c.1301C>A (p.Thr434Lys)
c.200C>A (p.Thr67Lys)
c.2528C>A (p.Thr843Lys)
c.2315C>A (p.Thr772Lys)
dbSNP gnomAD v4
11g.121558767C>TCA6329068SORL1c.2840C>T (p.Thr947Met)
n.568C>T
n.546C>T
c.1301C>T (p.Thr434Met)
c.200C>T (p.Thr67Met)
c.2528C>T (p.Thr843Met)
c.2315C>T (p.Thr772Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched