| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.46821617A>C | CA97208807 | COX7B2 | c.-50+23343T>G (n.-50+23343T>G) c.-53+23343T>G (n.-53+23343T>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46821617A= | CA1455035761 | COX7B2 | c.-50+23343T= (n.-50+23343T=) c.-53+23343T= (n.-53+23343T=) | dbSNP |