Table 4. Ten most frequent variants in our cohort.
Variant | Allele count |
---|---|
c.2708_2711del/p.(V903Gfs*3) | 39 |
c.869G>A/p.(R290Q) | 8 |
c.870+5G>A/p.(?) | 8 |
c.2569C>T/p.(R857*) | 7 |
c.1313A>T/p.(D438V) | 6 |
c.635_636del/p.(K212Rfs*4) | 5 |
c.1212+1G>A/p.T381_N404del) | 5 |
c.2241del/p.(F747Lfs*53) | 5 |
c.154C>T/p.(R52*) | 4 |
c.1096C>T/p.(R366*) | 4 |