| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115702996C>A | CA10576356 | CASQ2 | c.*312-1G>T (n.*312-1G>T) c.940-1G>T (n.940-1G>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.115702996C= | CA1190711102 | CASQ2 | c.*312-1G= (n.*312-1G=) c.940-1G= (n.940-1G=) | dbSNP |