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Description of variants found in our patients.
| Variation | N |
|---|---|
| Downstream | 6 |
| Exonic | 81461 |
| Exonic/splicing | 54 |
| Intergenic | 38 |
| Intronic | 365 |
| ncRNA_exonic | 5845 |
| ncRNA_exonic; splicing | 5 |
| ncRNA_intronic | 497 |
| ncRNA_splicing | 3 |
| Splicing | 52 |
| Upstream | 18 |
| Upstream; downstream | 3 |
| UTR3 | 10958 |
| UTR5 | 7390 |
| UTR5/UTR3 | 16 |
| Non-synonymous SNP | 41596 |
| Stopgain | 416 |
| Stoploss | 43 |
| Synonymous SNP | 38401 |
| Unknown | 1059 |
