| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112835093T>C | CA16025442 | APC | c.1551T>C (n.1551T>C) c.1940T>C (p.Leu647Ser) c.*1892T>C (n.*1892T>C) c.1832T>C (p.Leu611Ser) c.1886T>C (p.Leu629Ser) c.239T>C c.575T>C (p.Leu192Ser) c.*1208T>C (n.*1208T>C) c.230+6121T>C c.1916T>C (p.Leu639Ser) c.1811T>C (p.Leu604Ser) c.1802T>C (p.Leu601Ser) c.1763T>C (p.Leu588Ser) c.1709T>C (p.Leu570Ser) c.1613T>C (p.Leu538Ser) c.1583T>C (p.Leu528Ser) c.1508T>C (p.Leu503Ser) c.1406T>C (p.Leu469Ser) c.1037T>C (p.Leu346Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112835093T>A | CA16025441 | APC | c.1551T>A (n.1551T>A) c.1940T>A (p.Leu647Ter) c.*1892T>A (n.*1892T>A) c.1832T>A (p.Leu611Ter) c.1886T>A (p.Leu629Ter) c.239T>A c.575T>A (p.Leu192Ter) c.*1208T>A (n.*1208T>A) c.230+6121T>A c.1916T>A (p.Leu639Ter) c.1811T>A (p.Leu604Ter) c.1802T>A (p.Leu601Ter) c.1763T>A (p.Leu588Ter) c.1709T>A (p.Leu570Ter) c.1613T>A (p.Leu538Ter) c.1583T>A (p.Leu528Ter) c.1508T>A (p.Leu503Ter) c.1406T>A (p.Leu469Ter) c.1037T>A (p.Leu346Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112835093T>G | CA16025443 | APC | c.1551T>G (n.1551T>G) c.1940T>G (p.Leu647Ter) c.*1892T>G (n.*1892T>G) c.1832T>G (p.Leu611Ter) c.1886T>G (p.Leu629Ter) c.239T>G c.575T>G (p.Leu192Ter) c.*1208T>G (n.*1208T>G) c.230+6121T>G c.1916T>G (p.Leu639Ter) c.1811T>G (p.Leu604Ter) c.1802T>G (p.Leu601Ter) c.1763T>G (p.Leu588Ter) c.1709T>G (p.Leu570Ter) c.1613T>G (p.Leu538Ter) c.1583T>G (p.Leu528Ter) c.1508T>G (p.Leu503Ter) c.1406T>G (p.Leu469Ter) c.1037T>G (p.Leu346Ter) | ClinVar dbSNP |