Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.11018836A>G | CA340377 | TARDBP | c.506A>G (p.Asp169Gly) c.*87A>G (n.*87A>G) c.*395A>G (n.*395A>G) c.629A>G (p.Asp210Gly) c.146A>G (p.Asp49Gly) c.247A>G n.234A>G c.57A>G c.253A>G n.628A>G | ClinVar dbSNP |
1 | g.11018836A= | CA1141187545 | TARDBP | c.506A= (p.Asp169=) c.*87A= (n.*87A=) c.*395A= (n.*395A=) c.629A= (p.Asp210=) c.146A= (p.Asp49=) c.247A= n.234A= c.57A= c.253A= n.628A= | dbSNP |