| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162149170G>T | CA314735 | GABRG2 | c.986G>T c.1105G>T (p.Val369Phe) c.1068G>T n.239G>T c.700G>T (p.Val234Phe) c.985G>T (p.Val329Phe) c.862G>T c.376G>T (p.Val126Phe) c.913G>T (p.Val305Phe) c.*185G>T (n.*185G>T) c.919G>T (p.Val307Phe) n.283G>T n.3516G>T c.423G>T c.898G>T (p.Val300Phe) c.*587G>T (n.*587G>T) c.1106G>T (n.1106G>T) c.976G>T (p.Val326Phe) c.923-2560G>T (n.923-2560G>T) c.982G>T (p.Val328Phe) c.1024G>T (p.Val342Phe) c.565G>T (p.Val189Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 5 | g.162149170G>C | CA362182423 | GABRG2 | c.986G>C c.1105G>C (p.Val369Leu) c.1068G>C n.239G>C c.700G>C (p.Val234Leu) c.985G>C (p.Val329Leu) c.862G>C c.376G>C (p.Val126Leu) c.913G>C (p.Val305Leu) c.*185G>C (n.*185G>C) c.919G>C (p.Val307Leu) n.283G>C n.3516G>C c.423G>C c.898G>C (p.Val300Leu) c.*587G>C (n.*587G>C) c.1106G>C (n.1106G>C) c.976G>C (p.Val326Leu) c.923-2560G>C (n.923-2560G>C) c.982G>C (p.Val328Leu) c.1024G>C (p.Val342Leu) c.565G>C (p.Val189Leu) | dbSNP gnomAD v4 |
| 5 | g.162149170G= | CA1596380251 | GABRG2 | c.986G= c.1105G= (p.Val369=) c.1068G= n.239G= c.700G= (p.Val234=) c.985G= (p.Val329=) c.862G= c.376G= (p.Val126=) c.913G= (p.Val305=) c.*185G= (n.*185G=) c.919G= (p.Val307=) n.283G= n.3516G= c.423G= c.898G= (p.Val300=) c.*587G= (n.*587G=) c.1106G= (n.1106G=) c.976G= (p.Val326=) c.923-2560G= (n.923-2560G=) c.982G= (p.Val328=) c.1024G= (p.Val342=) c.565G= (p.Val189=) | dbSNP |
| 5 | g.162149170G>A | CA362182424 | GABRG2 | c.986G>A c.1105G>A (p.Val369Ile) c.1068G>A n.239G>A c.700G>A (p.Val234Ile) c.985G>A (p.Val329Ile) c.862G>A c.376G>A (p.Val126Ile) c.913G>A (p.Val305Ile) c.*185G>A (n.*185G>A) c.919G>A (p.Val307Ile) n.283G>A n.3516G>A c.423G>A c.898G>A (p.Val300Ile) c.*587G>A (n.*587G>A) c.1106G>A (n.1106G>A) c.976G>A (p.Val326Ile) c.923-2560G>A (n.923-2560G>A) c.982G>A (p.Val328Ile) c.1024G>A (p.Val342Ile) c.565G>A (p.Val189Ile) | dbSNP gnomAD v4 |