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   Gastrointestinal Findings
Mutation 1 Mutation 2 PS or PI PS/PI Diagnosed by Meconium Ileus Meconium Plug DIOS Diabetes Pancreatitis Back to Main Database
delF508 P67L PS Not provided No No No No No Back
delF508 D110H PS Not provided No No No No No Back
delF508 R117C PS Not provided No No No No No Back
delF508 R117C PS Fecal fat No No No No No  
delF508 R117L PS Clinical History No No No No No Back
delF508 P205S PS Not Provided No No Yes No No Back
delF508 L206W PS Not provided No No No No No Back
delF508 I336K PS Not provided No No No No No Back
delF508 R352Q PI Amylase/Lipase No No No No Yes Back
delF508 5T/12TG PS Fecal fat No No No No No Back
delF508 5T/13TG PS Fecal fat No No No No No  
delF508 5T/12TG PS Not provided No No No No No  
delF508 5T/12TG PI Fecal fat No No No No No  
delF508 D579G PS Not provided No No No No Yes Back
delF508 T582S PS Not provided No No No No Yes Back
Mutation 1 Mutation 2 PS or PI PS/PI Diagnosed by Meconium Ileus Meconium Plug DIOS Diabetes Pancreatitis Back to Main Database
delF508 Nt2789+2insA PS Fecal fat No No No No Yes Back
delF508 Nt2789+2insA PS Fecal fat No No No No No  
delF508 Nt2789+5G>A PS Not provided No No No No No Back
delF508 Nt2811G>A PS Not provided No No No No Yes Back
delF508 V920M PS Not provided No No No No No Back
delF508 D993A PS Not provided No No No No No Back
delF508 L967S PS Fecal fat No No No No No Back
delF508 Q996Q PS Clinical History No No No No No Back
delF508 L997F PS Not provided No No No No Yes Back
delF508 I1027T PS Fecal fat No No No No No Back
delF508 T1053I PS Fecal fat No No No No No Back
delF508 Nt3600+1G>A PS Not provided No No No No No Back
delF508 R1070W PS Fecal fat No No No No Yes Back
delF508 S1118F PS Fecal fat No No No No No Back
delF508 D1152H PI Fecal fat No No No No No Back
delF508 D1152H PS Not provided No No No No No  
delF508 D1152H PS Not provided No No No No No  
delF508 Q1291H PS Clinical History No No No No No Back
delF508 Q1291H PS Clinical History No No No No Yes  
Mutation 1 Mutation 2 PS or PI PS/PI Diagnosed by Meconium Ileus Meconium Plug DIOS Diabetes Pancreatitis Back to Main Database
300delA Nt2621+1G>A PS Not provided No No No No No Back
P67L R347P PS Not provided No No No No No Back
G85E F191V PS Not provided No No No No No Back
R117H Nt2185insA PS Not provided No No No No No Back
R117H G103X PS Not provided No No No No No Back
L138ins Nt3272-26A>G PS Fecal Fat No No No No No Back
Nt909delT Nt3272-26A>G PS Clinical History No No No No Yes Back
5T/12TG G463D PS Not provided No No Yes No No Back
5T/12TG F693L PS Not provided No No No No No Back
5T/13TG Nt2185insA PS Fecal fat No No No No No Back
Mutation 1 Mutation 2 PS or PI PS/PI Diagnosed by Meconium Ileus Meconium Plug DIOS Diabetes Pancreatitis Back to Main Database
delI507 R117C PI Fecal fat No No No No No Back
delI507 R117C PI Fecal fat No No No No No  
G542X R1162L PS Not provided No No No No No Back
Nt2789+5G>A L1007P PS Clinical History No No No No No Back
Nt3272-26A>G Nt3272-26A>G PS Fecal fat No No No No No Back
Nt3272-26A>G Nt3272-26A>G PS Clinical History No No No No Yes  
A1067V S1235R PS Normal stools No No No No No Back
D1152H W1282X PS Not provided No No No No No Back
Nt3600+2insT Nt3272-26A>G PS Elastase No No No Yes No Back
Nt3849+10kbC>T Nt3849+10kbC>T PS Not provided No No No No No Back

 

   
 
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Copyright 2000 Cystic Fibrosis Foundation Genotyping Center
Last modified: February 27, 2000