| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.45910719C>T | CA402340281 | EPG5 | n.2191G>A c.4007G>A (p.Gly1336Glu) c.3747G>A (n.3747G>A) n.786G>A c.632G>A (p.Gly211Glu) n.4042G>A c.4034G>A (p.Gly1345Glu) c.3893G>A (p.Gly1298Glu) c.2969G>A (p.Gly990Glu) n.4107G>A c.3866G>A (p.Gly1289Glu) c.2942G>A (p.Gly981Glu) n.4089G>A | ClinVar dbSNP |
| 18 | g.45910719C= | CA2300590927 | EPG5 | n.2191G= c.4007G= (p.Gly1336=) c.3747G= (n.3747G=) n.786G= c.632G= (p.Gly211=) n.4042G= c.4034G= (p.Gly1345=) c.3893G= (p.Gly1298=) c.2969G= (p.Gly990=) n.4107G= c.3866G= (p.Gly1289=) c.2942G= (p.Gly981=) n.4089G= | dbSNP |