Top 30 Mutation on our site

[enniob]

• 1639 F508del
• 76 G551D
• 72 R117H
• 58 G542X
• 33 N1303K
• 32 W1282X
• 31 Other
• 26 1717-1G->A
• 23 3849+10kbC->T
• 23 5T
• 21 I507del
• 19 R553X
• 18 621+1G->T
• 16 D1152H
• 16 R347P
• 12 3659delC
• 12 7T
• 12 M470V
• 12 R1162X
• 11 2184insA
• 10 2789+5G->A
• 9 S1235R
• 7 G85E
• 7 L206W
• 6 1898+1G->A
• 6 3272-26A->G
• 6 A455E
• 6 R668C
• 5 3120G->A
• 5 G576A

 

[JENNYC]

Wow!! Always figured that there were more than just 2 of us on here with 2585delT....maybe I was wrong unless they just haven't posted their mutation. There are only 12 including my half pint that are in the CF database. Thanks for posting Ennio

 

[piggylu]

Does anybody have Df508 and P67L mutations?

 

[KayyyA]

hello. Is there anyone like me? I have all the symptoms cf. Increased chloride in sweat-again, failure to thrive, malabsorption, GERD, mucus in the intestine, osteoporosis, cough, frequent infections SA, Haemophilus, etc. Now, Pseudomonas, AEU. but genetics confirmed....I have cf

 

[DrRoe]

I'm not sure what you are asking

hello. Is there anyone like me? I have all the symptoms cf. Increased chloride in sweat-again, failure to thrive, malabsorption, GERD, mucus in the intestine, osteoporosis, cough, frequent infections SA, Haemophilus, etc. Now, Pseudomonas, AEU. but genetics confirmed....I have cf

Almost everyone with CF has some or most of the symptoms as well as many of the bugs you are listing... but am not sure what AEU is, am I missing something?

 

[kgfrompa]

My Mutation

• 1639 F508del
• 76 G551D
• 72 R117H
• 58 G542X
• 33 N1303K
• 32 W1282X
• 31 Other
• 26 1717-1G->A
• 23 3849+10kbC->T
• 23 5T
• 21 I507del
• 19 R553X
• 18 621+1G->T
• 16 D1152H
• 16 R347P
• 12 3659delC
• 12 7T
• 12 M470V
• 12 R1162X
• 11 2184insA
• 10 2789+5G->A
• 9 S1235R
• 7 G85E
• 7 L206W
• 6 1898+1G->A
• 6 3272-26A->G
• 6 A455E
• 6 R668C
• 5 3120G->A
• 5 G576A

I had no idea R668C was in the top 30 how can I find out about what this means?