| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.70777144G>A | CA10602965 | AUTS2 | c.42G>A (p.Trp14Ter) c.1974G>A (p.Trp658Ter) c.72G>A (p.Trp24Ter) c.309G>A (p.Trp103Ter) c.67G>A n.642G>A c.555G>A (p.Trp185Ter) c.600G>A (p.Trp200Ter) c.1971G>A (p.Trp657Ter) n.285G>A c.839G>A c.1902G>A (p.Trp634Ter) c.72G>A n.640G>A n.471G>A n.342G>A c.1230G>A (p.Trp410Ter) c.1158G>A (p.Trp386Ter) c.621G>A (p.Trp207Ter) c.1995G>A (p.Trp665Ter) c.1992G>A (p.Trp664Ter) c.1929G>A (p.Trp643Ter) c.1923G>A (p.Trp641Ter) c.1893G>A (p.Trp631Ter) c.1731G>A (p.Trp577Ter) c.1704G>A (p.Trp568Ter) c.1521G>A (p.Trp507Ter) c.1494G>A (p.Trp498Ter) | ClinVar dbSNP |
| 7 | g.70777144G= | CA1716145491 | AUTS2 | c.42G= (p.Trp14=) c.1974G= (p.Trp658=) c.72G= (p.Trp24=) c.309G= (p.Trp103=) c.67G= n.642G= c.555G= (p.Trp185=) c.600G= (p.Trp200=) c.1971G= (p.Trp657=) n.285G= c.839G= c.1902G= (p.Trp634=) c.72G= n.640G= n.471G= n.342G= c.1230G= (p.Trp410=) c.1158G= (p.Trp386=) c.621G= (p.Trp207=) c.1995G= (p.Trp665=) c.1992G= (p.Trp664=) c.1929G= (p.Trp643=) c.1923G= (p.Trp641=) c.1893G= (p.Trp631=) c.1731G= (p.Trp577=) c.1704G= (p.Trp568=) c.1521G= (p.Trp507=) c.1494G= (p.Trp498=) | dbSNP |