| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162101274C>G | CA362184581 | GABRG2 | c.550C>G c.588C>G (p.Asn196Lys) n.479C>G c.671C>G c.303C>G (p.Asn101Lys) n.650C>G c.465C>G c.23-2615C>G (n.23-2615C>G) c.516C>G (p.Asn172Lys) c.107+33168C>G (n.107+33168C>G) c.522C>G (p.Asn174Lys) n.548C>G c.70-2615C>G c.501C>G (p.Asn167Lys) c.*190C>G (n.*190C>G) c.709C>G (n.709C>G) c.579C>G (p.Asn193Lys) c.168C>G (p.Asn56Lys) | dbSNP |
| 5 | g.162101274C>T | CA146973 | GABRG2 | c.550C>T c.588C>T (p.Asn196=) n.479C>T c.671C>T c.303C>T (p.Asn101=) n.650C>T c.465C>T c.23-2615C>T (n.23-2615C>T) c.516C>T (p.Asn172=) c.107+33168C>T (n.107+33168C>T) c.522C>T (p.Asn174=) n.548C>T c.70-2615C>T c.501C>T (p.Asn167=) c.*190C>T (n.*190C>T) c.709C>T (n.709C>T) c.579C>T (p.Asn193=) c.168C>T (p.Asn56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |