| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112840581G>T | CA10582321 | APC | c.5041G>T (p.Glu1681Ter) c.*4993G>T (n.*4993G>T) c.4933G>T (p.Glu1645Ter) c.4987G>T (p.Glu1663Ter) c.*4309G>T (n.*4309G>T) c.230+11609G>T c.5017G>T (p.Glu1673Ter) c.4912G>T (p.Glu1638Ter) c.4903G>T (p.Glu1635Ter) c.4864G>T (p.Glu1622Ter) c.4810G>T (p.Glu1604Ter) c.4714G>T (p.Glu1572Ter) c.4684G>T (p.Glu1562Ter) c.4609G>T (p.Glu1537Ter) c.4507G>T (p.Glu1503Ter) c.4138G>T (p.Glu1380Ter) | ClinVar dbSNP COSMIC |
| 5 | g.112840581G>A | CA040323 | APC | c.5041G>A (p.Glu1681Lys) c.*4993G>A (n.*4993G>A) c.4933G>A (p.Glu1645Lys) c.4987G>A (p.Glu1663Lys) c.*4309G>A (n.*4309G>A) c.230+11609G>A c.5017G>A (p.Glu1673Lys) c.4912G>A (p.Glu1638Lys) c.4903G>A (p.Glu1635Lys) c.4864G>A (p.Glu1622Lys) c.4810G>A (p.Glu1604Lys) c.4714G>A (p.Glu1572Lys) c.4684G>A (p.Glu1562Lys) c.4609G>A (p.Glu1537Lys) c.4507G>A (p.Glu1503Lys) c.4138G>A (p.Glu1380Lys) | ClinVar dbSNP ExAC gnomAD v4 |
| 5 | g.112840581G>C | CA16032246 | APC | c.5041G>C (p.Glu1681Gln) c.*4993G>C (n.*4993G>C) c.4933G>C (p.Glu1645Gln) c.4987G>C (p.Glu1663Gln) c.*4309G>C (n.*4309G>C) c.230+11609G>C c.5017G>C (p.Glu1673Gln) c.4912G>C (p.Glu1638Gln) c.4903G>C (p.Glu1635Gln) c.4864G>C (p.Glu1622Gln) c.4810G>C (p.Glu1604Gln) c.4714G>C (p.Glu1572Gln) c.4684G>C (p.Glu1562Gln) c.4609G>C (p.Glu1537Gln) c.4507G>C (p.Glu1503Gln) c.4138G>C (p.Glu1380Gln) | dbSNP |