| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112827157T>G | CA16024500 | APC | c.1408+5166T>G (n.1408+5166T>G) c.1512T>G (p.Tyr504Ter) n.1514T>G c.*1464T>G (n.*1464T>G) c.1404T>G (p.Tyr468Ter) c.1458T>G (p.Tyr486Ter) c.96+5166T>G c.147T>G (p.Tyr49Ter) c.*780T>G (n.*780T>G) c.1488T>G (p.Tyr496Ter) c.1383T>G (p.Tyr461Ter) c.1374T>G (p.Tyr458Ter) c.1335T>G (p.Tyr445Ter) c.1281T>G (p.Tyr427Ter) c.1185T>G (p.Tyr395Ter) c.1155T>G (p.Tyr385Ter) c.1080T>G (p.Tyr360Ter) c.978T>G (p.Tyr326Ter) c.609T>G (p.Tyr203Ter) | ClinVar dbSNP |
| 5 | g.112827157T>C | CA005169 | APC | c.1408+5166T>C (n.1408+5166T>C) c.1512T>C (p.Tyr504=) n.1514T>C c.*1464T>C (n.*1464T>C) c.1404T>C (p.Tyr468=) c.1458T>C (p.Tyr486=) c.96+5166T>C c.147T>C (p.Tyr49=) c.*780T>C (n.*780T>C) c.1488T>C (p.Tyr496=) c.1383T>C (p.Tyr461=) c.1374T>C (p.Tyr458=) c.1335T>C (p.Tyr445=) c.1281T>C (p.Tyr427=) c.1185T>C (p.Tyr395=) c.1155T>C (p.Tyr385=) c.1080T>C (p.Tyr360=) c.978T>C (p.Tyr326=) c.609T>C (p.Tyr203=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.112827157T>A | CA16024499 | APC | c.1408+5166T>A (n.1408+5166T>A) c.1512T>A (p.Tyr504Ter) n.1514T>A c.*1464T>A (n.*1464T>A) c.1404T>A (p.Tyr468Ter) c.1458T>A (p.Tyr486Ter) c.96+5166T>A c.147T>A (p.Tyr49Ter) c.*780T>A (n.*780T>A) c.1488T>A (p.Tyr496Ter) c.1383T>A (p.Tyr461Ter) c.1374T>A (p.Tyr458Ter) c.1335T>A (p.Tyr445Ter) c.1281T>A (p.Tyr427Ter) c.1185T>A (p.Tyr395Ter) c.1155T>A (p.Tyr385Ter) c.1080T>A (p.Tyr360Ter) c.978T>A (p.Tyr326Ter) c.609T>A (p.Tyr203Ter) | dbSNP gnomAD v4 |