| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.102869116A>G | CA13167500 | BORCS7-ASMT | c.*9-689A>G (n.*9-689A>G) n.407-689A>G n.75+222T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.102869116A= | CA1932877799 | BORCS7-ASMT | c.*9-689A= (n.*9-689A=) n.407-689A= n.75+222T= | dbSNP |