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Summary of rare variants (AF < 0.001) identified in our cohort.
| Consequence | Missense | Stop-Gained | In-Frame | Frameshift | Splice | Synonymous | Total |
|---|---|---|---|---|---|---|---|
| Previously reported | 35 | 1 | 2 | - | - | 14 | 52 |
| Novel | 30 | 2 | 1 | 1 | 1 | 8 | 43 |
| Total | 65 | 3 | 3 | 1 | 1 | 22 | 95 |
AF allele frequency.
