| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115705212C>T | CA1023696 | CASQ2 | c.*291G>A (n.*291G>A) c.919G>A (p.Asp307Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.115705212C>G | CA341468 | CASQ2 | c.*291G>C (n.*291G>C) c.919G>C (p.Asp307His) | ClinVar dbSNP gnomAD v4 |
| 1 | g.115705212C= | CA1141581002 | CASQ2 | c.*291G= (n.*291G=) c.919G= (p.Asp307=) | dbSNP |