| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.27364525G>A | CA44509202 | EIF2B4,GTF3C2-AS2 | c.1447C>T (p.Arg483Trp) c.*713C>T (n.*713C>T) c.1444C>T (p.Arg482Trp) c.1507C>T (p.Arg503Trp) n.440C>T c.1510C>T (p.Arg504Trp) c.1438C>T (p.Arg480Trp) c.1402C>T (p.Arg468Trp) c.1399C>T (p.Arg467Trp) c.829C>T (p.Arg277Trp) n.1772-2899G>A c.1354C>T (p.Arg452Trp) c.862C>T (p.Arg288Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 2 | g.27364525G= | CA1240242815 | EIF2B4,GTF3C2-AS2 | c.1447C= (p.Arg483=) c.*713C= (n.*713C=) c.1444C= (p.Arg482=) c.1507C= (p.Arg503=) n.440C= c.1510C= (p.Arg504=) c.1438C= (p.Arg480=) c.1402C= (p.Arg468=) c.1399C= (p.Arg467=) c.829C= (p.Arg277=) n.1772-2899G= c.1354C= (p.Arg452=) c.862C= (p.Arg288=) | dbSNP |
| 2 | g.27364525G>T | CA425409783 | EIF2B4,GTF3C2-AS2 | c.1447C>A (p.Arg483=) c.*713C>A (n.*713C>A) c.1444C>A (p.Arg482=) c.1507C>A (p.Arg503=) n.440C>A c.1510C>A (p.Arg504=) c.1438C>A (p.Arg480=) c.1402C>A (p.Arg468=) c.1399C>A (p.Arg467=) c.829C>A (p.Arg277=) n.1772-2899G>T c.1354C>A (p.Arg452=) c.862C>A (p.Arg288=) | dbSNP gnomAD v4 |