| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115732940G>C | CA175364 | CASQ2 | c.291C>G (p.Phe97Leu) c.567C>G (p.Phe189Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115732940G>A | CA419896051 | CASQ2 | c.291C>T (p.Phe97=) c.567C>T (p.Phe189=) | dbSNP gnomAD v4 COSMIC |
| 1 | g.115732940G= | CA1142129946 | CASQ2 | c.291C= (p.Phe97=) c.567C= (p.Phe189=) | dbSNP |