Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.36218224G>ACA253717CLTA,GNEc.1985C>T (p.Ala662Val)
c.1715C>T (p.Ala572Val)
c.1892C>T (p.Ala631Val)
c.1670C>T (p.Ala557Val)
c.485+14045G>A (n.485+14045G>A)
c.1562C>T (p.Ala521Val)
c.1877C>T (p.Ala626Val)
c.1832C>T (p.Ala611Val)
c.1739C>T (p.Ala580Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.36218224G=CA1846325393CLTA,GNEc.1985C= (p.Ala662=)
c.1715C= (p.Ala572=)
c.1892C= (p.Ala631=)
c.1670C= (p.Ala557=)
c.485+14045G= (n.485+14045G=)
c.1562C= (p.Ala521=)
c.1877C= (p.Ala626=)
c.1832C= (p.Ala611=)
c.1739C= (p.Ala580=)
dbSNP

Number of alleles fetched