| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.35315089C>G | CA10586391 | SLC1A2 | c.244G>C (p.Gly82Arg) c.232G>C (p.Gly78Arg) c.217G>C (p.Gly73Arg) n.506G>C n.533G>C n.2517G>C n.336G>C n.824G>C c.235G>C (p.Gly79Arg) c.355G>C (p.Gly119Arg) c.259G>C (p.Gly87Arg) n.92G>C n.349G>C n.326G>C c.94G>C (p.Gly32Arg) n.399G>C c.292G>C (p.Gly98Arg) | ClinVar dbSNP |
| 11 | g.35315089C>T | CA380130533 | SLC1A2 | c.244G>A (p.Gly82Arg) c.232G>A (p.Gly78Arg) c.217G>A (p.Gly73Arg) n.506G>A n.533G>A n.2517G>A n.336G>A n.824G>A c.235G>A (p.Gly79Arg) c.355G>A (p.Gly119Arg) c.259G>A (p.Gly87Arg) n.92G>A n.349G>A n.326G>A c.94G>A (p.Gly32Arg) n.399G>A c.292G>A (p.Gly98Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.35315089C= | CA1963627136 | SLC1A2 | c.244G= (p.Gly82=) c.232G= (p.Gly78=) c.217G= (p.Gly73=) n.506G= n.533G= n.2517G= n.336G= n.824G= c.235G= (p.Gly79=) c.355G= (p.Gly119=) c.259G= (p.Gly87=) n.92G= n.349G= n.326G= c.94G= (p.Gly32=) n.399G= c.292G= (p.Gly98=) | dbSNP |