Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.121586253C>TCA6329387SORL1c.3738C>T (p.Asn1246=)
c.3624C>T (p.Asn1208=)
c.2199C>T (p.Asn733=)
c.1098C>T (p.Asn366=)
c.570C>T (p.Asn190=)
c.3426C>T (p.Asn1142=)
c.3213C>T (p.Asn1071=)
c.276C>T (p.Asn92=)
c.468C>T (p.Asn156=)
dbSNP ExAC gnomAD
11g.121586253C>GCA6329388SORL1c.3738C>G (p.Asn1246Lys)
c.3624C>G (p.Asn1208Lys)
c.2199C>G (p.Asn733Lys)
c.1098C>G (p.Asn366Lys)
c.570C>G (p.Asn190Lys)
c.3426C>G (p.Asn1142Lys)
c.3213C>G (p.Asn1071Lys)
c.276C>G (p.Asn92Lys)
c.468C>G (p.Asn156Lys)
dbSNP ExAC gnomAD

Number of alleles fetched