| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.114403982G>A | CA252404 | WHRN | c.676C>T (p.Arg226Ter) c.2332C>T (p.Arg778Ter) c.1305C>T n.2213C>T c.1183C>T (p.Arg395Ter) c.1279C>T (p.Arg427Ter) c.2329C>T (p.Arg777Ter) c.1669C>T (p.Arg557Ter) c.2365C>T (p.Arg789Ter) c.2362C>T (p.Arg788Ter) c.2239C>T (p.Arg747Ter) c.2122C>T (p.Arg708Ter) c.1042C>T (p.Arg348Ter) n.3269C>T n.3167C>T n.2580C>T n.2478C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.114403982G= | CA1873825888 | WHRN | c.676C= (p.Arg226=) c.2332C= (p.Arg778=) c.1305C= n.2213C= c.1183C= (p.Arg395=) c.1279C= (p.Arg427=) c.2329C= (p.Arg777=) c.1669C= (p.Arg557=) c.2365C= (p.Arg789=) c.2362C= (p.Arg788=) c.2239C= (p.Arg747=) c.2122C= (p.Arg708=) c.1042C= (p.Arg348=) n.3269C= n.3167C= n.2580C= n.2478C= | dbSNP |
| 9 | g.114403982G>C | CA374619753 | WHRN | c.676C>G (p.Arg226Gly) c.2332C>G (p.Arg778Gly) c.1305C>G n.2213C>G c.1183C>G (p.Arg395Gly) c.1279C>G (p.Arg427Gly) c.2329C>G (p.Arg777Gly) c.1669C>G (p.Arg557Gly) c.2365C>G (p.Arg789Gly) c.2362C>G (p.Arg788Gly) c.2239C>G (p.Arg747Gly) c.2122C>G (p.Arg708Gly) c.1042C>G (p.Arg348Gly) n.3269C>G n.3167C>G n.2580C>G n.2478C>G | dbSNP |