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