| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71463507C>T | CA6162912 | NADSYN1 | c.317+22C>T (n.317+22C>T) n.383+22C>T c.217+22C>T c.*62+22C>T (n.*62+22C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71463507C>G | CA1981500292 | NADSYN1 | c.317+22C>G (n.317+22C>G) n.383+22C>G c.217+22C>G c.*62+22C>G (n.*62+22C>G) | dbSNP |