Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.75985795G>ACA257672PORc.1390G>A (p.Gly464Arg)
c.1516G>A (p.Gly506Arg)
c.1615G>A (p.Gly539Arg)
c.*109-265G>A (n.*109-265G>A)
c.829G>A (p.Gly277Arg)
c.1766G>A
c.*920G>A (n.*920G>A)
n.226G>A
c.1669G>A (p.Gly557Arg)
c.1465G>A (p.Gly489Arg)
c.1606G>A (p.Gly536Arg)
c.1660G>A (p.Gly554Arg)
c.1456G>A (p.Gly486Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.75985795G>CCA4304207PORc.1390G>C (p.Gly464Arg)
c.1516G>C (p.Gly506Arg)
c.1615G>C (p.Gly539Arg)
c.*109-265G>C (n.*109-265G>C)
c.829G>C (p.Gly277Arg)
c.1766G>C
c.*920G>C (n.*920G>C)
n.226G>C
c.1669G>C (p.Gly557Arg)
c.1465G>C (p.Gly489Arg)
c.1606G>C (p.Gly536Arg)
c.1660G>C (p.Gly554Arg)
c.1456G>C (p.Gly486Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
7g.75985795G=CA1718180342PORc.1390G= (p.Gly464=)
c.1516G= (p.Gly506=)
c.1615G= (p.Gly539=)
c.*109-265G= (n.*109-265G=)
c.829G= (p.Gly277=)
c.1766G=
c.*920G= (n.*920G=)
n.226G=
c.1669G= (p.Gly557=)
c.1465G= (p.Gly489=)
c.1606G= (p.Gly536=)
c.1660G= (p.Gly554=)
c.1456G= (p.Gly486=)
dbSNP

Number of alleles fetched