| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115705208G>T | CA175358 | CASQ2 | c.*295C>A (n.*295C>A) c.923C>A (p.Pro308Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.115705208G>A | CA301936 | CASQ2 | c.*295C>T (n.*295C>T) c.923C>T (p.Pro308Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.115705208G= | CA1141667412 | CASQ2 | c.*295C= (n.*295C=) c.923C= (p.Pro308=) | dbSNP |