| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.139471320G>C | CA1586326817 | SMIM33 | c.9+190G>C (n.9+190G>C) n.291+27G>C | dbSNP |
| 5 | g.139471320G>A | CA15401519 | SMIM33 | c.9+190G>A (n.9+190G>A) n.291+27G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.139471320G= | CA1586326815 | SMIM33 | c.9+190G= (n.9+190G=) n.291+27G= | dbSNP |