| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171652476G>C | CA1244322 | MYOC | c.136C>G (p.Arg46Gly) c.130+6C>G (n.130+6C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652476G>T | CA1244323 | MYOC | c.136C>A (p.Arg46=) c.130+6C>A (n.130+6C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.171652476G>A | CA119179 | MYOC | c.136C>T (p.Arg46Ter) c.130+6C>T (n.130+6C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |