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Top TEN MUTATIONS ON OUR SITE
- Thread starter Imogene
- Start date
W
welshwitch
Guest
Cool! Thanks for posting!
W
welshwitch
Guest
Also really interesting to see I'm in a mega minority as far as genes (N1303K and 621+1G->T, WOW!)
S
stephen
Guest
Jeanne,
Your data really got my interest so I went to the CFTR2 Database which has a little over total 39,600 "patient contributors".
Here are the top ten mutations, out of a total of about 150, as listed in the CFTR2.org website database. As you would expect there is a high degree of correlation with the data you collected so far.
NOTE: It’s really interesting how fast the occurrence drops after F508del, which is by far the most common.
Your data really got my interest so I went to the CFTR2 Database which has a little over total 39,600 "patient contributors".
Here are the top ten mutations, out of a total of about 150, as listed in the CFTR2.org website database. As you would expect there is a high degree of correlation with the data you collected so far.
NOTE: It’s really interesting how fast the occurrence drops after F508del, which is by far the most common.
Occurrence Rank | Mutation | Occurrences |
1 | F508del | 29018 |
2 | G542X | 1651 |
3 | G551D | 1249 |
4 | N1303K | 1113 |
5 | W1282X | 895 |
6 | R117H | 726 |
7 | R553X | 593 |
8 | 1717-1G->A. | 592 |
9 | 621+1G->T | 555 |
10 | 2789+5G->A | 492 |
… | ||
21 | D1152H | 184 |
… | ||
About 150 | Y569D | 6 |
AleksandraKaczynska
New member
Keep it up..it's great.... most people here at diagnosis search for others with same mutations - like I did.