Or therapy assessment.Study limitations.(i) despite the usage of custom gene panels, some regions with the CFTR gene have been hard to cover (exon 2 and exon 5), that is deemed a technical limitation within the detection of variants; (ii) the scientific literature continues to be controversial about the applicability of predictive tools to predict the pathogenicity in case of novel variants, mainly missense ones; (iii) prediction tools can compile facts from different sources, such as analysis of evolutionary conservation, position in the variant within the genome and formation and function from the protein; but in some predictors, there may well be a misinterpretation regarding the pathogenicity of your variants. And however, the interaction of many strategies and pieces of facts, such as the use of clinical and laboratory traits, concomitantly with all the use of predictors and identified variants, can result in the right and viable use of in silico pathogenicity prediction.Scientific RepoRts | (2019) 9:6234 | 41598-019-42404-www.nature.comscientificreportsGenotype F508delF508del F508delG542 F508delN1303K F508del2183AA G F508delR1162 F508del1717-1G A F508del1716 + 18672A G F508del1812-1G A F508del2789 + 5G A F508delA561E F508delG85E F508delQ1100P F508delR1066C F508delY1092 G542N1303K R334WG542 R334WR334W 2183AA G2183AA G 2183AA GN1303K 2752-26A G2752-26A G 3120 + 1G AR1066C 3120 + 1G AR1162 3617delGA3905insT 622-2A G711 + 1G T A561EA561E A561EY913 E528DE528D Y325FcDNA.5808T A D110HV232D D614GR1162 F508del2184delA F508del2184insA F508del3120 + 1G A F508del3272-26A G F508del621 + 1G T F508del711 + 1G T F508del1234delGCAAA N 57 15 5 4 four three two 2 two 2 two 2 three 2 2 2 two 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 33.73 8.88 two.96 two.37 two.37 1.78 1.18 1.18 1.18 1.18 1.18 1.18 1.78 1.18 1.18 1.18 1.18 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 Drug Orkambi or Symdeko Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Not applicable Not applicable Not applicable Not applicable Not applicable Not applicable Not applicable Not applicable Not applicable Not applicable Not applicable Not applicable Not applicable Not applicable Kalydeco Not applicable Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Genotypewww.nature.comscientificreportsN 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 1 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 0.59 Drug Orkambi Orkambi Orkambi Orkambi Methyl 2-(1H-indol-3-yl)acetate Metabolic Enzyme/Protease OrkambiKalydeco Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi Orkambi OrkambiKalydeco Orkambi Not applicable Not applicable Not applicable Not applicable Not applicable Kalydeco Not applicable Kalydeco Not applicable Kalydeco Not applicable Not applicable Kalydeco Not applicable Not applicableF508delL935Q F508delI1427I F508delA234V F508delT291I F508delD1152H F508delG646 F508delG85V F508delL365P F508delP205S F508delQ552 F508delQ890 F508delR334W [F508del];[R334W;Q414P] F508delR347P F508delR553 F508delS1235R F508delS158E F508delS466 F508delS4 F508delS549R F508delW1310 G5422556insAT G542A561E Chlorin e6 trimethyl ester custom synthesis G542I618T G542Q1100P G542R1162 G542S549R I285FA455A L206WW1282 N1303KN1303K [G542];[R1070Q;S466] R1162R1162 R334WR1066C R74WD1270N S466A561E.
