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   Biochemical Findings
Mutation 1 Mutation 2 Sweat chloride values (mEq/L) Results of NPD (if performed) Back to Main Database
delF508 P67L 66.7; 51.6; 62.1   Back
delF508 D110H 91; 88   Back
delF508 R117C 49   Back
delF508 R117C 65; 65; 66; 69    
delF508 R117L 89   Back
delF508 P205S 59; 65   Back
delF508 L206W 56; 47; 47   Back
delF508 I336K 116   Back
delF508 R352Q 64.5; 57   Back
delF508 5T/12TG 53; 44 Consistent with CF Back
delF508 5T/13TG 46; 50; 38; 40; 56; 59 Consistent with CF  
delF508 5T/12TG 45; 22    
delF508 5T/12TG 44; 45; 40; 40 abnl low Cl- and Iso reponse  
delF508 D579G 35; 30; 49; 52 No Cl conductance following Iso. Back
delF508 T582S 55; 60; 44; 35 Intermediate PD Back
Mutation 1 Mutation 2 Sweat chloride values (mEq/L) Results of NPD (if performed) Back to Main Database
delF508 Nt2789+2insA 113   Back
delF508 Nt2789+2insA 85; 85    
delF508 Nt2789+5G>A 112   Back
delF508 Nt2811G>T 46; 49; 32 Intermediate PD? Back
delF508 V920M 43; 24; 35 Consistent with CF Back
delF508 D993A 37; 36   Back
delF508 L967S 82; 78 Not consistent with CF Back
delF508 Q996Q 67; 62   Back
delF508 L997F 35 Intermediate PD Back
delF508 I1027T 61   Back
delF508 T1053I 68; 50   Back
delF508 Nt3600+1G>A 94; 94 Inconslusive Back
delF508 R1070W 55; 40   Back
delF508 S1118F 71   Back
delF508 D1152H 33   Back
delF508 D1152H 96    
delF508 D1152H 52    
delF508 Q1291H 37; 45   Back
delF508 Q1291H 23; 25; 32    
Mutation 1 Mutation 2 Sweat chloride values (mEq/L) Results of NPD (if performed) Back to Main Database
300delA Nt2621+1G>A 119   Back
P67L R347P 39; 37; 38; 37; 44; 45   Back
G85E F191V 59; 56   Back
R117H Nt2185insA 53.5; 45.7; 47.9; 42.9   Back
R117H G103X 81; 85   Back
L138ins Nt3272-26A>G 66; 67; 121   Back
Nt909delT Nt3272-26A>G 91   Back
5T/12TG G463D 73; 66   Back
5T/12TG F693L 85; 58; 53   Back
5T/13TG Nt2185insA 95; 85; 61; 47; 52 Mean 19.4; ami 8.5; delt low cl/iso 9; delat ATP -18 Back
Mutation 1 Mutation 2 Sweat chloride values (mEq/L) Results of NPD (if performed) Back to Main Database
delI507 R117C 45; 50   Back
delI507 R117C 70; 65    
G542X R1162L 44; 46; 27; 25 Baseline -50mV; nl response to low Cl- Back
Nt2789+5G>A L1007P 106; 107   Back
Nt3272-26A>G Nt3272-26A>G 34; 44   Back
Nt3272-26A>G Nt3272-26A>G 34    
A1067V S1235R 50; 53; 40; 64   Back
D1152H W1282X 35; 48   Back
Nt3600+2insT Nt3272-26A>G 78; 76; 75   Back
Nt3849+10kbC>T Nt3849+10kbC>T 6; 10; 20; 16   Back

 

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