Legacy Name (cDNA) |
Database annotation and
pathogenicity |
SARP AA |
SARP NHW |
AA |
Europeans |
394delTT (c.262_263del) |
CFTR-2 CF-C |
0 |
0.00059 |
0 |
0.00014 |
621+1G->T( c.489+1G>T) |
CFTR2 CF-C |
0 |
0.00059 |
0.0002 |
0.00016 |
F191V ( c.571T>G) |
CFTR2 CF-C |
0.0012 |
0 |
0.0004 |
0 |
R347P( c.1040G>C) |
CFTR2 CF-C |
0 |
0.00059 |
0 |
0.00005 |
A455E (c.1364C>A) |
CFTR2 CF-C |
0 |
0.00059 |
0 |
0.0001 |
F508del (c.1521_1523del) |
CFTR2-CF-C |
0 |
0.018 |
0.0015 |
0.0031 |
1717-1G->A(c.15851G>A) |
CFTR2 CF-C |
0.0012 |
0 |
0.0002 |
0.00021 |
G551D (c.1652G>A) |
CFTR2 CF-C |
0 |
0.0012 |
0.0004 |
0.00047 |
R851X (c.2551C>T) |
CFTR2-CF-C |
0 |
0.00059 |
0 |
0.00001 |
2789+5G->A( c.2657+5G>A) |
CFTR-2
CF-C |
0 |
0.00059 |
0 |
0.0001 |
*L1077P (c.3230T>C) |
CFTR-2 CF-C |
0 |
0 |
0 |
0.00002 |
*W1098R (c.3292T>C) |
CFTR-2 CF-C |
0 |
0 |
0 |
0 |
W1282X (c.3846G>A) |
CFTR2-CF-C |
0 |
0.0012 |
0 |
0.00052 |
N1303K (c.3909C>G) |
CFTR-2 CF-C |
0 |
0.0012 |
0 |
0.00033 |
5T;TG12 (c.1210-11T>G) |
CFTR-2 VVCC |
0.015 |
0.018 |
0.0067 |
0.0154 |
R74W (c.220C>T) |
CFTR-2 VVCC |
0.019 |
0 |
0.0057 |
0.00014 |
R117H (c.350G>A) |
CFTR-2 VVCC |
0 |
0.003 |
0.0002 |
0.00253 |
621+3A->G (c.489+3A>G) |
CFTR-2 VVCC |
0 |
0.00059 |
0 |
0.00039 |
R334Q (c.1001G>A) |
CFTR-2 VVCC |
0 |
0.00059 |
0 |
0.00018 |
D443Y (c.1327G>T) |
CFTR-2 VVCC |
0 |
0.00059 |
0.0003 |
0.00033 |
G622D (c.1865G>A) |
CFTR-2 VVCC |
0.0023 |
0 |
0.0015 |
0 |
P750L (c.2249C>T) |
CFTR-2 VVCC |
0.0012 |
0.0012 |
0.0002 |
0.00077 |
L967S (c.2900T>C) |
CFTR-2 VVCC |
0 |
0.0024 |
0.0004 |
0.00127 |
Y1032C (c.3095A>G) |
CFTR-2 VVCC |
0 |
0.00059 |
0 |
0.00005 |
F1052V (c.3154T>G) |
CFTR-2 VVCC |
0 |
0.00059 |
0 |
0.00094 |
G1069R (c.3205G>A) |
CFTR-2 VVCC |
0 |
0.00059 |
0 |
0.00015 |
F1099L (c.3297C>A) |
CFTR-2 VVCC |
0.0012 |
0 |
0.0002 |
0.00002 |
D1270N (c.3808G>A) |
CFTR-2 VVCC |
0.014 |
0 |
0.0078 |
0.00005 |
1342-2A->C (c.1210-2A>C) |
ACMG LP
Pathogenic |
0. |
0.000595 |
0 |
0.0001 |
*S589N (c.1766G>A) |
ACMG LP Pathogenic |
0 |
0 |
0 |
0 |