Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.112839510G>T | CA16029925 | APC | c.3581G>T (n.3581G>T) c.3970G>T (p.Glu1324Ter) c.*3922G>T (n.*3922G>T) c.3862G>T (p.Glu1288Ter) c.3916G>T (p.Glu1306Ter) c.2269G>T c.*3238G>T (n.*3238G>T) c.230+10538G>T c.3946G>T (p.Glu1316Ter) c.3841G>T (p.Glu1281Ter) c.3832G>T (p.Glu1278Ter) c.3793G>T (p.Glu1265Ter) c.3739G>T (p.Glu1247Ter) c.3643G>T (p.Glu1215Ter) c.3613G>T (p.Glu1205Ter) c.3538G>T (p.Glu1180Ter) c.3436G>T (p.Glu1146Ter) c.3067G>T (p.Glu1023Ter) | ClinVar dbSNP COSMIC |
5 | g.112839510G>A | CA16029923 | APC | c.3581G>A (n.3581G>A) c.3970G>A (p.Glu1324Lys) c.*3922G>A (n.*3922G>A) c.3862G>A (p.Glu1288Lys) c.3916G>A (p.Glu1306Lys) c.2269G>A c.*3238G>A (n.*3238G>A) c.230+10538G>A c.3946G>A (p.Glu1316Lys) c.3841G>A (p.Glu1281Lys) c.3832G>A (p.Glu1278Lys) c.3793G>A (p.Glu1265Lys) c.3739G>A (p.Glu1247Lys) c.3643G>A (p.Glu1215Lys) c.3613G>A (p.Glu1205Lys) c.3538G>A (p.Glu1180Lys) c.3436G>A (p.Glu1146Lys) c.3067G>A (p.Glu1023Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |