| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636000G>A | CA421938598 | MYOC,MYOCOS | c.1440C>T (p.Asn480=) c.235-2630G>A (n.235-2630G>A) c.*778C>T (n.*778C>T) c.*404C>T (n.*404C>T) | dbSNP gnomAD v4 |
| 1 | g.171636000G>T | CA119175 | MYOC,MYOCOS | c.1440C>A (p.Asn480Lys) c.235-2630G>T (n.235-2630G>T) c.*778C>A (n.*778C>A) c.*404C>A (n.*404C>A) | ClinVar dbSNP gnomAD v4 |
| 1 | g.171636000G>C | CA343723150 | MYOC,MYOCOS | c.1440C>G (p.Asn480Lys) c.235-2630G>C (n.235-2630G>C) c.*778C>G (n.*778C>G) c.*404C>G (n.*404C>G) | ClinVar dbSNP |