| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.126036209A>T | CA471803814 | ADAM12 | c.2466T>A (p.Ala822=) c.2475T>A (p.Ala825=) c.2007T>A (p.Ala669=) c.1308T>A (p.Ala436=) c.1137T>A (p.Ala379=) | dbSNP |
| 10 | g.126036209A>G | CA5740178 | ADAM12 | c.2466T>C (p.Ala822=) c.2475T>C (p.Ala825=) c.2007T>C (p.Ala669=) c.1308T>C (p.Ala436=) c.1137T>C (p.Ala379=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.126036209A>C | CA471803812 | ADAM12 | c.2466T>G (p.Ala822=) c.2475T>G (p.Ala825=) c.2007T>G (p.Ala669=) c.1308T>G (p.Ala436=) c.1137T>G (p.Ala379=) | dbSNP |