| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115701359C>G | CA301913 | CASQ2 | c.*454G>C (n.*454G>C) c.1082G>C (p.Trp361Ser) | ClinVar dbSNP |
| 1 | g.115701359C= | CA1190716747 | CASQ2 | c.*454G= (n.*454G=) c.1082G= (p.Trp361=) | dbSNP |
| 1 | g.115701359C>T | CA341766402 | CASQ2 | c.*454G>A (n.*454G>A) c.1082G>A (p.Trp361Ter) | ClinVar dbSNP |