| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.115717869A>G | CA301904 | CASQ2 | c.*181T>C (n.*181T>C) c.809T>C (p.Ile270Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.115717869A>T | CA341767862 | CASQ2 | c.*181T>A (n.*181T>A) c.809T>A (p.Ile270Asn) | dbSNP gnomAD v4 |
| 1 | g.115717869A= | CA1190720168 | CASQ2 | c.*181T= (n.*181T=) c.809T= (p.Ile270=) | dbSNP |