Table 2 of Dias, Mol Vis 2013; 19:654-664.

Table 2. Mutation detection in single and parallel NGS.

Gene Protein change Number of samples/Pico titer plate
1 4
Chimeric sample Chimeric sample Sample 1 Sample 2 Sample 3
% Total % Total % Total % Total % Total
Variant Depth Variant Depth Variant Depth Variant Depth Variant Depth
CA4 p.Val234Ile 44 280 48 222 0* - 0* - 0* -
CRX None (c.252+11G>A) 50 99 48 67 0* - 0* - 0* -
PRPF31 p.Lys257fsX277 47 76 46 57 0* - 0* - 0* -
p.Ile109del 0* - 0* - 47 25 0* - 0* -
PRPF8 p.Val2325fsX2329 36 101 34 44 0* - 0* - 0* -
PRPH2 p.Cys214Tyr 40 48 67 27 0* - 0* - 0* -
p.Asp338Gly 0* - 0* - 100 15 29 17 100 16
p.Gln304Glu 0* - 0* - 96 27 28 25 100 32
p.Arg310Lys 0* - 48 40 100 25 92 24 96 28
RHO p.Asn73del 0* - 0* - 0* - 0* - 38 56
RP1 p.Cys2033Tyr 0* - 0* - 55 33 50 40 41 83
p.Asn985Tyr 0* - 0* - 60 20 53 17 46 55
p.Ala1670Thr 0* - 71 119 0* - 0* - 30 54
p.Ser1691Pro 0* - 100 122 0* - 0* - 49 53

* In the % Variation column the value zero means no variation.

Dias, Mol Vis 2013; 19:654-664. http://www.molvis.org/molvis/v19/654

©2013 Molecular Vision http://www.molvis.org/molvis/

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