| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44428797C>T | CA9500479 | ZNF229 | c.1984G>A (p.Gly662Arg) n.523-11251G>A c.1966G>A (p.Gly656Arg) c.*2187G>A (n.*2187G>A) n.2873G>A c.1900G>A (p.Gly634Arg) c.946G>A (p.Gly316Arg) n.2868G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44428797C>A | CA9500480 | ZNF229 | c.1984G>T (p.Gly662Ter) n.523-11251G>T c.1966G>T (p.Gly656Ter) c.*2187G>T (n.*2187G>T) n.2873G>T c.1900G>T (p.Gly634Ter) c.946G>T (p.Gly316Ter) n.2868G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |