Top 30 Mutation on our site

enniob

Administrator
Staff member
  • 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

New member
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 :)
 

KayyyA

New member
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
 
D

DrRoe

Guest
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?
 
K

kgfrompa

Guest
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?
 
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