| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112839421C>A | CA16029729 | APC | c.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 |
| 5 | g.112839421C>G | CA16029730 | APC | c.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 |
| 5 | g.112839421C>T | CA16029731 | APC | c.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 |
| 5 | g.112839421C= | CA1573490733 | APC | c.3492C= (n.3492C=) c.3881C= (p.Ser1294=) c.*3833C= (n.*3833C=) c.3773C= (p.Ser1258=) c.3827C= (p.Ser1276=) c.2180C= c.*3149C= (n.*3149C=) c.230+10449C= c.3857C= (p.Ser1286=) c.3752C= (p.Ser1251=) c.3743C= (p.Ser1248=) c.3704C= (p.Ser1235=) c.3650C= (p.Ser1217=) c.3554C= (p.Ser1185=) c.3524C= (p.Ser1175=) c.3449C= (p.Ser1150=) c.3347C= (p.Ser1116=) c.2978C= (p.Ser993=) | dbSNP |