| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.34026832G>A | CA253872 | ALG10 | c.1339G>A (p.Val447Ile) c.369+2673G>A (n.369+2673G>A) c.*1079G>A (n.*1079G>A) c.1159G>A (p.Val387Ile) | ClinVar dbSNP gnomAD v4 |
| 12 | g.34026832G>T | CA384387370 | ALG10 | c.1339G>T (p.Val447Phe) c.369+2673G>T (n.369+2673G>T) c.*1079G>T (n.*1079G>T) c.1159G>T (p.Val387Phe) | dbSNP gnomAD v2 gnomAD v4 |