| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.116508316T>G | CA15487170 | CAV2 | c.*2195T>G (n.*2195T>G) c.*2157T>G (n.*2157T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.116508316T>C | CA165433301 | CAV2 | c.*2195T>C (n.*2195T>C) c.*2157T>C (n.*2157T>C) | dbSNP |
| 7 | g.116508316T= | CA1736913227 | CAV2 | c.*2195T= (n.*2195T=) c.*2157T= (n.*2157T=) | dbSNP |