| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112838229C>T | CA16027094 | APC | c.2300C>T (n.2300C>T) c.2689C>T (p.Gln897Ter) c.*2641C>T (n.*2641C>T) c.2581C>T (p.Gln861Ter) c.2635C>T (p.Gln879Ter) c.988C>T c.*1957C>T (n.*1957C>T) c.230+9257C>T c.2665C>T (p.Gln889Ter) c.2560C>T (p.Gln854Ter) c.2551C>T (p.Gln851Ter) c.2512C>T (p.Gln838Ter) c.2458C>T (p.Gln820Ter) c.2362C>T (p.Gln788Ter) c.2332C>T (p.Gln778Ter) c.2257C>T (p.Gln753Ter) c.2155C>T (p.Gln719Ter) c.1786C>T (p.Gln596Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112838229C>A | CA16027092 | APC | c.2300C>A (n.2300C>A) c.2689C>A (p.Gln897Lys) c.*2641C>A (n.*2641C>A) c.2581C>A (p.Gln861Lys) c.2635C>A (p.Gln879Lys) c.988C>A c.*1957C>A (n.*1957C>A) c.230+9257C>A c.2665C>A (p.Gln889Lys) c.2560C>A (p.Gln854Lys) c.2551C>A (p.Gln851Lys) c.2512C>A (p.Gln838Lys) c.2458C>A (p.Gln820Lys) c.2362C>A (p.Gln788Lys) c.2332C>A (p.Gln778Lys) c.2257C>A (p.Gln753Lys) c.2155C>A (p.Gln719Lys) c.1786C>A (p.Gln596Lys) | dbSNP |
| 5 | g.112838229C>G | CA16027093 | APC | c.2300C>G (n.2300C>G) c.2689C>G (p.Gln897Glu) c.*2641C>G (n.*2641C>G) c.2581C>G (p.Gln861Glu) c.2635C>G (p.Gln879Glu) c.988C>G c.*1957C>G (n.*1957C>G) c.230+9257C>G c.2665C>G (p.Gln889Glu) c.2560C>G (p.Gln854Glu) c.2551C>G (p.Gln851Glu) c.2512C>G (p.Gln838Glu) c.2458C>G (p.Gln820Glu) c.2362C>G (p.Gln788Glu) c.2332C>G (p.Gln778Glu) c.2257C>G (p.Gln753Glu) c.2155C>G (p.Gln719Glu) c.1786C>G (p.Gln596Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |