| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636302C>G | CA119186 | MYOC,MYOCOS | c.1138G>C (p.Asp380His) c.235-2328C>G (n.235-2328C>G) c.*476G>C (n.*476G>C) c.*102G>C (n.*102G>C) | ClinVar dbSNP |
| 1 | g.171636302C>A | CA343724573 | MYOC,MYOCOS | c.1138G>T (p.Asp380Tyr) c.235-2328C>A (n.235-2328C>A) c.*476G>T (n.*476G>T) c.*102G>T (n.*102G>T) | ClinVar dbSNP |
| 1 | g.171636302C>T | CA343724574 | MYOC,MYOCOS | c.1138G>A (p.Asp380Asn) c.235-2328C>T (n.235-2328C>T) c.*476G>A (n.*476G>A) c.*102G>A (n.*102G>A) | ClinVar dbSNP gnomAD v4 |