| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636382G>C | CA343724886 | MYOC,MYOCOS | c.1058C>G (p.Thr353Arg) c.235-2248G>C (n.235-2248G>C) c.*396C>G (n.*396C>G) c.*22C>G (n.*22C>G) | dbSNP gnomAD v4 |
| 1 | g.171636382G>A | CA1244086 | MYOC,MYOCOS | c.1058C>T (p.Thr353Ile) c.235-2248G>A (n.235-2248G>A) c.*396C>T (n.*396C>T) c.*22C>T (n.*22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |