| 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 |
| 1 | g.171636382G= | CA1141581196 | MYOC,MYOCOS | c.1058C= (p.Thr353=) c.235-2248G= (n.235-2248G=) c.*396C= (n.*396C=) c.*22C= (n.*22C=) | dbSNP |
| 1 | g.171636382G>T | CA343724888 | MYOC,MYOCOS | c.1058C>A (p.Thr353Lys) c.235-2248G>T (n.235-2248G>T) c.*396C>A (n.*396C>A) c.*22C>A (n.*22C>A) | dbSNP |