| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162153132C>T | CA126269 | GABRG2 | c.1193C>T c.1288C>T (p.Gln430Ter) c.1251C>T n.446C>T c.883C>T (p.Gln295Ter) c.907C>T (p.Gln303Ter) c.*3789C>T (n.*3789C>T) c.1069C>T c.559C>T (p.Gln187Ter) c.1168C>T (p.Gln390Ter) c.1192C>T (p.Gln398Ter) c.1855C>T (n.1855C>T) c.*1373C>T (n.*1373C>T) c.*392C>T (n.*392C>T) c.1126C>T (p.Gln376Ter) c.1102C>T (p.Gln368Ter) n.466C>T n.6139C>T c.630C>T c.1105C>T (p.Gln369Ter) c.1261C>T (p.Gln421Ter) c.1312C>T (p.Gln438Ter) c.*770C>T (n.*770C>T) c.1289C>T (n.1289C>T) c.1183C>T (p.Gln395Ter) c.*26C>T (n.*26C>T) c.1189C>T (p.Gln397Ter) c.1165C>T (p.Gln389Ter) c.1231C>T (p.Gln411Ter) c.748C>T (p.Gln250Ter) c.772C>T (p.Gln258Ter) | ClinVar dbSNP COSMIC |
| 5 | g.162153132C= | CA1596381982 | GABRG2 | c.1193C= c.1288C= (p.Gln430=) c.1251C= n.446C= c.883C= (p.Gln295=) c.907C= (p.Gln303=) c.*3789C= (n.*3789C=) c.1069C= c.559C= (p.Gln187=) c.1168C= (p.Gln390=) c.1192C= (p.Gln398=) c.1855C= (n.1855C=) c.*1373C= (n.*1373C=) c.*392C= (n.*392C=) c.1126C= (p.Gln376=) c.1102C= (p.Gln368=) n.466C= n.6139C= c.630C= c.1105C= (p.Gln369=) c.1261C= (p.Gln421=) c.1312C= (p.Gln438=) c.*770C= (n.*770C=) c.1289C= (n.1289C=) c.1183C= (p.Gln395=) c.*26C= (n.*26C=) c.1189C= (p.Gln397=) c.1165C= (p.Gln389=) c.1231C= (p.Gln411=) c.748C= (p.Gln250=) c.772C= (p.Gln258=) | dbSNP |