| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112821985G>T | CA16024380 | APC | c.1402G>T (p.Glu468Ter) n.1458G>T c.*1408G>T (n.*1408G>T) c.1348G>T (p.Glu450Ter) c.90G>T c.37G>T (p.Glu13Ter) c.*724G>T (n.*724G>T) c.1432G>T (p.Glu478Ter) c.1327G>T (p.Glu443Ter) c.1318G>T (p.Glu440Ter) c.1225G>T (p.Glu409Ter) c.1129G>T (p.Glu377Ter) c.1099G>T (p.Glu367Ter) c.1024G>T (p.Glu342Ter) c.922G>T (p.Glu308Ter) c.553G>T (p.Glu185Ter) | ClinVar dbSNP gnomAD v4 |
| 5 | g.112821985G>C | CA16024379 | APC | c.1402G>C (p.Glu468Gln) n.1458G>C c.*1408G>C (n.*1408G>C) c.1348G>C (p.Glu450Gln) c.90G>C c.37G>C (p.Glu13Gln) c.*724G>C (n.*724G>C) c.1432G>C (p.Glu478Gln) c.1327G>C (p.Glu443Gln) c.1318G>C (p.Glu440Gln) c.1225G>C (p.Glu409Gln) c.1129G>C (p.Glu377Gln) c.1099G>C (p.Glu367Gln) c.1024G>C (p.Glu342Gln) c.922G>C (p.Glu308Gln) c.553G>C (p.Glu185Gln) | dbSNP |
| 5 | g.112821985G>A | CA16024378 | APC | c.1402G>A (p.Glu468Lys) n.1458G>A c.*1408G>A (n.*1408G>A) c.1348G>A (p.Glu450Lys) c.90G>A c.37G>A (p.Glu13Lys) c.*724G>A (n.*724G>A) c.1432G>A (p.Glu478Lys) c.1327G>A (p.Glu443Lys) c.1318G>A (p.Glu440Lys) c.1225G>A (p.Glu409Lys) c.1129G>A (p.Glu377Lys) c.1099G>A (p.Glu367Lys) c.1024G>A (p.Glu342Lys) c.922G>A (p.Glu308Lys) c.553G>A (p.Glu185Lys) | ClinVar dbSNP |