| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112839543G>A | CA16029992 | APC | c.3614G>A (n.3614G>A) c.4003G>A (p.Glu1335Lys) c.*3955G>A (n.*3955G>A) c.3895G>A (p.Glu1299Lys) c.3949G>A (p.Glu1317Lys) c.2302G>A c.*3271G>A (n.*3271G>A) c.230+10571G>A c.3979G>A (p.Glu1327Lys) c.3874G>A (p.Glu1292Lys) c.3865G>A (p.Glu1289Lys) c.3826G>A (p.Glu1276Lys) c.3772G>A (p.Glu1258Lys) c.3676G>A (p.Glu1226Lys) c.3646G>A (p.Glu1216Lys) c.3571G>A (p.Glu1191Lys) c.3469G>A (p.Glu1157Lys) c.3100G>A (p.Glu1034Lys) | ClinVar dbSNP |
| 5 | g.112839543G>C | CA008815 | APC | c.3614G>C (n.3614G>C) c.4003G>C (p.Glu1335Gln) c.*3955G>C (n.*3955G>C) c.3895G>C (p.Glu1299Gln) c.3949G>C (p.Glu1317Gln) c.2302G>C c.*3271G>C (n.*3271G>C) c.230+10571G>C c.3979G>C (p.Glu1327Gln) c.3874G>C (p.Glu1292Gln) c.3865G>C (p.Glu1289Gln) c.3826G>C (p.Glu1276Gln) c.3772G>C (p.Glu1258Gln) c.3676G>C (p.Glu1226Gln) c.3646G>C (p.Glu1216Gln) c.3571G>C (p.Glu1191Gln) c.3469G>C (p.Glu1157Gln) c.3100G>C (p.Glu1034Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.112839543G>T | CA16029993 | APC | c.3614G>T (n.3614G>T) c.4003G>T (p.Glu1335Ter) c.*3955G>T (n.*3955G>T) c.3895G>T (p.Glu1299Ter) c.3949G>T (p.Glu1317Ter) c.2302G>T c.*3271G>T (n.*3271G>T) c.230+10571G>T c.3979G>T (p.Glu1327Ter) c.3874G>T (p.Glu1292Ter) c.3865G>T (p.Glu1289Ter) c.3826G>T (p.Glu1276Ter) c.3772G>T (p.Glu1258Ter) c.3676G>T (p.Glu1226Ter) c.3646G>T (p.Glu1216Ter) c.3571G>T (p.Glu1191Ter) c.3469G>T (p.Glu1157Ter) c.3100G>T (p.Glu1034Ter) | dbSNP COSMIC |