Researching SNPs Gaucher Disease
From Bioinformatikpedia
HGMD
| Type | Count |
|---|---|
| Missense/nonsense | 250 |
| Splicing | 15 |
| Regulatory | 0 |
| Small deletions | 26 |
| Small insertions | 13 |
| Small indels | 2 |
| Gross deletions | 3 |
| Gross insertions/duplications | 1 |
| Complex rearrangements | 15 |
| Public total | 325 |
