| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115768445G>A | CA301925 | CASQ2 | c.-180C>T (n.-180C>T) c.97C>T (p.Arg33Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115768445G>T | CA1024000 | CASQ2 | c.-180C>A (n.-180C>A) c.97C>A (p.Arg33=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.115768445G= | CA1144228942 | CASQ2 | c.-180C= (n.-180C=) c.97C= (p.Arg33=) | dbSNP |