| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.15748092C>T | CA257134 | MYH11 | c.2135G>A (p.Arg712Gln) c.2156G>A (p.Arg719Gln) c.*318G>A (n.*318G>A) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 16 | g.15748092C>G | CA394868073 | MYH11 | c.2135G>C (p.Arg712Pro) c.2156G>C (p.Arg719Pro) c.*318G>C (n.*318G>C) | dbSNP |
| 16 | g.15748092C= | CA2209929532 | MYH11 | c.2135G= (p.Arg712=) c.2156G= (p.Arg719=) c.*318G= (n.*318G=) | dbSNP |