Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.112839421C>ACA16029729APCc.3492C>A (n.3492C>A)
c.3881C>A (p.Ser1294Ter)
c.*3833C>A (n.*3833C>A)
c.3773C>A (p.Ser1258Ter)
c.3827C>A (p.Ser1276Ter)
c.2180C>A
c.*3149C>A (n.*3149C>A)
c.230+10449C>A
c.3857C>A (p.Ser1286Ter)
c.3752C>A (p.Ser1251Ter)
c.3743C>A (p.Ser1248Ter)
c.3704C>A (p.Ser1235Ter)
c.3650C>A (p.Ser1217Ter)
c.3554C>A (p.Ser1185Ter)
c.3524C>A (p.Ser1175Ter)
c.3449C>A (p.Ser1150Ter)
c.3347C>A (p.Ser1116Ter)
c.2978C>A (p.Ser993Ter)
ClinVar dbSNP COSMIC
5g.112839421C>GCA16029730APCc.3492C>G (n.3492C>G)
c.3881C>G (p.Ser1294Ter)
c.*3833C>G (n.*3833C>G)
c.3773C>G (p.Ser1258Ter)
c.3827C>G (p.Ser1276Ter)
c.2180C>G
c.*3149C>G (n.*3149C>G)
c.230+10449C>G
c.3857C>G (p.Ser1286Ter)
c.3752C>G (p.Ser1251Ter)
c.3743C>G (p.Ser1248Ter)
c.3704C>G (p.Ser1235Ter)
c.3650C>G (p.Ser1217Ter)
c.3554C>G (p.Ser1185Ter)
c.3524C>G (p.Ser1175Ter)
c.3449C>G (p.Ser1150Ter)
c.3347C>G (p.Ser1116Ter)
c.2978C>G (p.Ser993Ter)
ClinVar dbSNP COSMIC
5g.112839421C>TCA16029731APCc.3492C>T (n.3492C>T)
c.3881C>T (p.Ser1294Leu)
c.*3833C>T (n.*3833C>T)
c.3773C>T (p.Ser1258Leu)
c.3827C>T (p.Ser1276Leu)
c.2180C>T
c.*3149C>T (n.*3149C>T)
c.230+10449C>T
c.3857C>T (p.Ser1286Leu)
c.3752C>T (p.Ser1251Leu)
c.3743C>T (p.Ser1248Leu)
c.3704C>T (p.Ser1235Leu)
c.3650C>T (p.Ser1217Leu)
c.3554C>T (p.Ser1185Leu)
c.3524C>T (p.Ser1175Leu)
c.3449C>T (p.Ser1150Leu)
c.3347C>T (p.Ser1116Leu)
c.2978C>T (p.Ser993Leu)
dbSNP COSMIC

Number of alleles fetched