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. 2021 Jul 9;16(7):e0253987. doi: 10.1371/journal.pone.0253987

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