| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.171636338G>A | CA119172 | MYOC,MYOCOS | c.1102C>T (p.Gln368Ter) c.235-2292G>A (n.235-2292G>A) c.*440C>T (n.*440C>T) c.*66C>T (n.*66C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.171636338G>C | CA343724721 | MYOC,MYOCOS | c.1102C>G (p.Gln368Glu) c.235-2292G>C (n.235-2292G>C) c.*440C>G (n.*440C>G) c.*66C>G (n.*66C>G) | dbSNP |
| 1 | g.171636338G= | CA1140886911 | MYOC,MYOCOS | c.1102C= (p.Gln368=) c.235-2292G= (n.235-2292G=) c.*440C= (n.*440C=) c.*66C= (n.*66C=) | dbSNP |