| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33435225G>C | CA16044320 | SYNGAP1 | c.325G>C (p.Ala109Pro) c.583G>C (p.Ala195Pro) c.406G>C (p.Ala136Pro) c.538G>C (p.Ala180Pro) n.778G>C | ClinVar dbSNP |
| 6 | g.33435225G= | CA1620011324 | SYNGAP1 | c.325G= (p.Ala109=) c.583G= (p.Ala195=) c.406G= (p.Ala136=) c.538G= (p.Ala180=) n.778G= | dbSNP |
| 6 | g.33435225G>T | CA363682131 | SYNGAP1 | c.325G>T (p.Ala109Ser) c.583G>T (p.Ala195Ser) c.406G>T (p.Ala136Ser) c.538G>T (p.Ala180Ser) n.778G>T | dbSNP gnomAD v4 |