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| Variant Type | Method of Identification | All | Intronic/ Exonic | Novel (exonic) | Private mutations |
|---|---|---|---|---|---|
| SNP | WGSb/Targeted NGSc | 337 | 332/5 | 88 (0) | 44 |
| In-Delsa | WGS/Targeted NGS | 241 | 241/0 | 201 (0) | 29 |
| Long Repeat expansion | WGS | 1 | 1/0 | 1(0) | 0 |
| Large In-Del | WGS | 1 | 1/0 | 1(0) | 0 |
| TOTAL | 580 | 575/5 | 291 (0) | 73 |
a. In-del = Insertion-Deletion.
b. WGS = Whole Genome Sequencing.
c. NGS = Next-Generation Sequencing
