| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.112840632C>A | CA16032349 | APC | c.5092C>A (p.Gln1698Lys) c.*5044C>A (n.*5044C>A) c.4984C>A (p.Gln1662Lys) c.5038C>A (p.Gln1680Lys) c.*4360C>A (n.*4360C>A) c.230+11660C>A c.5068C>A (p.Gln1690Lys) c.4963C>A (p.Gln1655Lys) c.4954C>A (p.Gln1652Lys) c.4915C>A (p.Gln1639Lys) c.4861C>A (p.Gln1621Lys) c.4765C>A (p.Gln1589Lys) c.4735C>A (p.Gln1579Lys) c.4660C>A (p.Gln1554Lys) c.4558C>A (p.Gln1520Lys) c.4189C>A (p.Gln1397Lys) | dbSNP |
| 5 | g.112840632C>G | CA040478 | APC | c.5092C>G (p.Gln1698Glu) c.*5044C>G (n.*5044C>G) c.4984C>G (p.Gln1662Glu) c.5038C>G (p.Gln1680Glu) c.*4360C>G (n.*4360C>G) c.230+11660C>G c.5068C>G (p.Gln1690Glu) c.4963C>G (p.Gln1655Glu) c.4954C>G (p.Gln1652Glu) c.4915C>G (p.Gln1639Glu) c.4861C>G (p.Gln1621Glu) c.4765C>G (p.Gln1589Glu) c.4735C>G (p.Gln1579Glu) c.4660C>G (p.Gln1554Glu) c.4558C>G (p.Gln1520Glu) c.4189C>G (p.Gln1397Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.112840632C>T | CA10578390 | APC | c.5092C>T (p.Gln1698Ter) c.*5044C>T (n.*5044C>T) c.4984C>T (p.Gln1662Ter) c.5038C>T (p.Gln1680Ter) c.*4360C>T (n.*4360C>T) c.230+11660C>T c.5068C>T (p.Gln1690Ter) c.4963C>T (p.Gln1655Ter) c.4954C>T (p.Gln1652Ter) c.4915C>T (p.Gln1639Ter) c.4861C>T (p.Gln1621Ter) c.4765C>T (p.Gln1589Ter) c.4735C>T (p.Gln1579Ter) c.4660C>T (p.Gln1554Ter) c.4558C>T (p.Gln1520Ter) c.4189C>T (p.Gln1397Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |