| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33441374G>A | CA16043415 | SYNGAP1,SYNGAP1-AS1 | c.1857G>A (p.Lys619=) c.2115G>A (p.Lys705=) n.67G>A n.46G>A c.*512G>A (n.*512G>A) c.1938G>A (p.Lys646=) c.2070G>A (p.Lys690=) n.330-3893C>T | ClinVar dbSNP |
| 6 | g.33441374G>C | CA363622837 | SYNGAP1,SYNGAP1-AS1 | c.1857G>C (p.Lys619Asn) c.2115G>C (p.Lys705Asn) n.67G>C n.46G>C c.*512G>C (n.*512G>C) c.1938G>C (p.Lys646Asn) c.2070G>C (p.Lys690Asn) n.330-3893C>G | ClinVar dbSNP |
| 6 | g.33441374G= | CA1620013778 | SYNGAP1,SYNGAP1-AS1 | c.1857G= (p.Lys619=) c.2115G= (p.Lys705=) n.67G= n.46G= c.*512G= (n.*512G=) c.1938G= (p.Lys646=) c.2070G= (p.Lys690=) n.330-3893C= | dbSNP |