| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.93021742T>G | CA2196394472 | CHD2 | c.4773+1484T>G c.5153+1484T>G (n.5153+1484T>G) c.1556+1484T>G c.*1417T>G (n.*1417T>G) c.389+1484T>G | dbSNP |
| 15 | g.93021742T>C | CA14174339 | CHD2 | c.4773+1484T>C c.5153+1484T>C (n.5153+1484T>C) c.1556+1484T>C c.*1417T>C (n.*1417T>C) c.389+1484T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |