| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27366859C>T | CA1576656 | EIF2B4,GTF3C2-AS2 | c.1091G>A (p.Arg364Gln) c.*357G>A (n.*357G>A) c.665G>A c.1088G>A (p.Arg363Gln) c.1151G>A (p.Arg384Gln) n.2992G>A c.1154G>A (p.Arg385Gln) c.1082G>A (p.Arg361Gln) c.1046G>A (p.Arg349Gln) c.1043G>A (p.Arg348Gln) c.473G>A (p.Arg158Gln) n.1772-565C>T c.998G>A (p.Arg333Gln) c.506G>A (p.Arg169Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.27366859C= | CA1240244486 | EIF2B4,GTF3C2-AS2 | c.1091G= (p.Arg364=) c.*357G= (n.*357G=) c.665G= c.1088G= (p.Arg363=) c.1151G= (p.Arg384=) n.2992G= c.1154G= (p.Arg385=) c.1082G= (p.Arg361=) c.1046G= (p.Arg349=) c.1043G= (p.Arg348=) c.473G= (p.Arg158=) n.1772-565C= c.998G= (p.Arg333=) c.506G= (p.Arg169=) | dbSNP |