| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.50244277G>T | CA133457 | MYH14 | c.1150G>T (p.Gly384Cys) c.*185G>T (n.*185G>T) c.1126G>T (p.Gly376Cys) c.-1165G>T (n.-1165G>T) c.1270G>T (p.Gly424Cys) c.1246G>T (p.Gly416Cys) c.1235-2727G>T (n.1235-2727G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.50244277G= | CA2340805546 | MYH14 | c.1150G= (p.Gly384=) c.*185G= (n.*185G=) c.1126G= (p.Gly376=) c.-1165G= (n.-1165G=) c.1270G= (p.Gly424=) c.1246G= (p.Gly416=) c.1235-2727G= (n.1235-2727G=) | dbSNP |