| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112827116C>G | CA16024409 | APC | c.1408+5125C>G (n.1408+5125C>G) c.1471C>G (p.Gln491Glu) n.1473C>G c.*1423C>G (n.*1423C>G) c.1363C>G (p.Gln455Glu) c.1417C>G (p.Gln473Glu) c.96+5125C>G c.106C>G (p.Gln36Glu) c.*739C>G (n.*739C>G) c.1447C>G (p.Gln483Glu) c.1342C>G (p.Gln448Glu) c.1333C>G (p.Gln445Glu) c.1294C>G (p.Gln432Glu) c.1240C>G (p.Gln414Glu) c.1144C>G (p.Gln382Glu) c.1114C>G (p.Gln372Glu) c.1039C>G (p.Gln347Glu) c.937C>G (p.Gln313Glu) c.568C>G (p.Gln190Glu) | dbSNP |
| 5 | g.112827116C>T | CA10578316 | APC | c.1408+5125C>T (n.1408+5125C>T) c.1471C>T (p.Gln491Ter) n.1473C>T c.*1423C>T (n.*1423C>T) c.1363C>T (p.Gln455Ter) c.1417C>T (p.Gln473Ter) c.96+5125C>T c.106C>T (p.Gln36Ter) c.*739C>T (n.*739C>T) c.1447C>T (p.Gln483Ter) c.1342C>T (p.Gln448Ter) c.1333C>T (p.Gln445Ter) c.1294C>T (p.Gln432Ter) c.1240C>T (p.Gln414Ter) c.1144C>T (p.Gln382Ter) c.1114C>T (p.Gln372Ter) c.1039C>T (p.Gln347Ter) c.937C>T (p.Gln313Ter) c.568C>T (p.Gln190Ter) | ClinVar dbSNP |