| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.66639066G>A | CA367697307 | KCTD7 | c.664G>A (p.Gly222Arg) c.505+137G>A c.397+137G>A (n.397+137G>A) c.529G>A c.508G>A c.704G>A (p.Trp235Ter) c.*567G>A (n.*567G>A) c.437+137G>A c.211G>A c.568-62G>A (n.568-62G>A) | dbSNP |
| 7 | g.66639066G>C | CA315696 | KCTD7 | c.664G>C (p.Gly222Arg) c.505+137G>C c.397+137G>C (n.397+137G>C) c.529G>C c.508G>C c.704G>C (p.Trp235Ser) c.*567G>C (n.*567G>C) c.437+137G>C c.211G>C c.568-62G>C (n.568-62G>C) | ClinVar dbSNP |