| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110913139C>T | CA010211 | MYL2 | c.359G>A (p.Arg120Gln) c.302G>A (p.Arg101Gln) c.317G>A (p.Arg106Gln) n.291G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.110913139C>A | CA386697804 | MYL2 | c.359G>T (p.Arg120Leu) c.302G>T (p.Arg101Leu) c.317G>T (p.Arg106Leu) n.291G>T | ClinVar dbSNP COSMIC |
| 12 | g.110913139C>G | CA386697805 | MYL2 | c.359G>C (p.Arg120Pro) c.302G>C (p.Arg101Pro) c.317G>C (p.Arg106Pro) n.291G>C | ClinVar dbSNP |
| 12 | g.110913139C= | CA2063070231 | MYL2 | c.359G= (p.Arg120=) c.302G= (p.Arg101=) c.317G= (p.Arg106=) n.291G= | dbSNP |