| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 20 | g.18524556G>T | CA148510 | SEC23B | c.490G>T (p.Val164Leu) c.436G>T (p.Val146Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.18524556G>A | CA408358240 | SEC23B | c.490G>A (p.Val164Met) c.436G>A (p.Val146Met) | dbSNP gnomAD v3 gnomAD v4 |
| 20 | g.18524556G= | CA2353556309 | SEC23B | c.490G= (p.Val164=) c.436G= (p.Val146=) | dbSNP |