| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33440913C>T | CA16612033 | SYNGAP1,SYNGAP1-AS1 | c.1603C>T (p.Arg535Ter) c.1861C>T (p.Arg621Ter) c.*258C>T (n.*258C>T) c.1684C>T (p.Arg562Ter) c.1816C>T (p.Arg606Ter) n.330-3432G>A | ClinVar dbSNP |
| 6 | g.33440913C= | CA1620013564 | SYNGAP1,SYNGAP1-AS1 | c.1603C= (p.Arg535=) c.1861C= (p.Arg621=) c.*258C= (n.*258C=) c.1684C= (p.Arg562=) c.1816C= (p.Arg606=) n.330-3432G= | dbSNP |
| 6 | g.33440913C>G | CA363693956 | SYNGAP1,SYNGAP1-AS1 | c.1603C>G (p.Arg535Gly) c.1861C>G (p.Arg621Gly) c.*258C>G (n.*258C>G) c.1684C>G (p.Arg562Gly) c.1816C>G (p.Arg606Gly) n.330-3432G>C | dbSNP gnomAD v4 |