1 |
CFTR |
P13569 |
p.Val11Ile |
rs1800072 |
variant of unknown significance |
|
|
Detail |
0.69 (T) |
0 (N) | N |
2 |
CFTR |
P13569 |
p.Ser13Phe |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.736 (D) | N |
3 |
CFTR |
P13569 |
p.Arg31Cys |
rs1800073 |
variant of unknown significance |
|
|
Detail |
0.06 (T) |
0.97 (D) | N |
4 |
CFTR |
P13569 |
p.Arg31His |
rs149353983 |
variant of unknown significance |
|
|
Detail |
0.15 (T) |
0.001 (N) | N |
5 |
CFTR |
P13569 |
p.Arg31Leu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.33 (T) |
0.202 (N) | N |
6 |
CFTR |
P13569 |
p.Ser42Phe |
rs143456784 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
0.403 (N) | N |
7 |
CFTR |
P13569 |
p.Asp44Gly |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.02 (D) |
0.73 (D) | N |
8 |
CFTR |
P13569 |
p.Asp44Val |
rs1800074 |
variant of unknown significance |
|
|
Detail |
0.01 (D) |
0.97 (D) | N |
9 |
CFTR |
P13569 |
p.Ala46Val |
rs151020603 |
variant of unknown significance |
|
|
Detail |
0.01 (D) |
0.999 (D) | N |
10 |
CFTR |
P13569 |
p.Ser50Tyr |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.55 (T) |
0.994 (D) | N |
11 |
CFTR |
P13569 |
p.Trp57Gly |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
0.026 (N) | N |
12 |
CFTR |
P13569 |
p.Pro67Leu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
13 |
CFTR |
P13569 |
p.Arg74Gln |
rs142540482 |
variant of unknown significance |
|
|
Detail |
0.24 (T) |
0.002 (N) | N |
14 |
CFTR |
P13569 |
p.Arg74Trp |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.20 (T) |
0.857 (D) | N |
15 |
CFTR |
P13569 |
p.Arg75Gln |
rs1800076 |
variant of unknown significance |
|
|
Detail |
0.13 (T) |
1 (D) | N |
16 |
CFTR |
P13569 |
p.Gly85Glu |
rs75961395 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
1 (D) | N |
17 |
CFTR |
P13569 |
p.Phe87Leu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.92 (T) |
0 (N) | N |
18 |
CFTR |
P13569 |
p.Leu88Phe |
rs149662778 |
variant of unknown significance |
|
|
Detail |
0.67 (T) |
1 (D) | N |
19 |
CFTR |
P13569 |
p.Gly91Arg |
rs121908750 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.57 (T) |
0.999 (D) | N |
20 |
CFTR |
P13569 |
p.Glu92Lys |
rs121908751 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.21 (T) |
0.999 (D) | N |
21 |
CFTR |
P13569 |
p.Glu92Ter |
rs121908751 |
CYSTIC FIBROSIS [MIM:602421#0082] |
|
|
Detail |
(-) |
(-) | N |
22 |
CFTR |
P13569 |
p.Gln98Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.31 (T) |
0.999 (D) | N |
23 |
CFTR |
P13569 |
p.Ile105Ser |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
24 |
CFTR |
P13569 |
p.Tyr109Cys |
rs121909031 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
0.998 (D) | N |
25 |
CFTR |
P13569 |
p.Asp110His |
rs113993958 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.08 (T) |
0.999 (D) | N |
26 |
CFTR |
P13569 |
p.Asp110Tyr |
rs113993958 |
CYSTIC FIBROSIS [MIM:602421#0004] |
|
|
Detail |
0.02 (D) |
0.999 (D) | N |
27 |
CFTR |
P13569 |
p.Pro111Leu |
rs140502196 |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.37 (T) |
0.825 (D) | N |
28 |
CFTR |
P13569 |
p.Glu115Val |
rs149706251 |
variant of unknown significance |
|
|
Detail |
0.43 (T) |
0 (N) | N |
29 |
CFTR |
P13569 |
p.Arg117His |
rs78655421 |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.54 (T) |
1 (D) | N |
30 |
CFTR |
P13569 |
p.Arg117Leu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.92 (T) |
1 (D) | N |
31 |
CFTR |
P13569 |
p.Arg117Cys |
rs77834169 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.18 (T) |
1 (D) | N |
32 |
CFTR |
P13569 |
p.Arg117Pro |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.26 (T) |
1 (D) | N |
33 |
CFTR |
P13569 |
p.Ala120Thr |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.02 (D) |
0.993 (D) | N |
34 |
CFTR |
P13569 |
p.Ile125Thr |
rs141723617 |
variant of unknown significance |
|
|
Detail |
0.41 (T) |
0.016 (N) | N |
35 |
CFTR |
P13569 |
p.Leu138Pro |
rs1800078 |
variant of unknown significance |
|
|
Detail |
0.21 (T) |
0.992 (D) | N |
36 |
CFTR |
P13569 |
p.His139Leu |
rs76371115 |
variant of unknown significance |
|
|
Detail |
0.01 (D) |
0.865 (D) | N |
37 |
CFTR |
P13569 |
p.His139Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.08 (T) |
0.944 (D) | N |
38 |
CFTR |
P13569 |
p.Pro140Ser |
rs145900055 |
variant of unknown significance |
|
|
Detail |
0.45 (T) |
1 (D) | N |
39 |
CFTR |
P13569 |
p.Ala141Asp |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.08 (T) |
0.411 (N) | N |
40 |
CFTR |
P13569 |
p.Ile148Thr |
rs35516286 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.35 (T) |
0.157 (N) | N |
41 |
CFTR |
P13569 |
p.Gly149Arg |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.04 (D) |
1 (D) | N |
42 |
CFTR |
P13569 |
p.Arg153Lys |
rs149197463 |
variant of unknown significance |
|
|
Detail |
0.19 (T) |
0.996 (D) | N |
43 |
CFTR |
P13569 |
p.Arg170His |
rs1800079 |
variant of unknown significance |
|
|
Detail |
0.08 (T) |
0.988 (D) | N |
44 |
CFTR |
P13569 |
p.Gly178Arg |
rs80282562 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
45 |
CFTR |
P13569 |
p.Ser182Gly |
rs1800080 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
46 |
CFTR |
P13569 |
p.Phe191Val |
rs141482808 |
variant of unknown significance |
|
|
Detail |
0.01 (D) |
0.859 (D) | N |
47 |
CFTR |
P13569 |
p.Glu193Lys |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.50 (T) |
0.967 (D) | N |
48 |
CFTR |
P13569 |
p.Ala198Val |
rs73215910 |
variant of unknown significance |
|
|
Detail |
0.80 (T) |
1 (D) | N |
49 |
CFTR |
P13569 |
p.His199Tyr |
rs121908802 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.02 (D) |
0.999 (D) | N |
50 |
CFTR |
P13569 |
p.His199Gln |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.13 (T) |
0.999 (D) | N |
51 |
CFTR |
P13569 |
p.Val201Met |
rs138338446 |
variant of unknown significance |
|
|
Detail |
0.08 (T) |
0.955 (D) | N |
52 |
CFTR |
P13569 |
p.Pro205Ser |
rs121908803 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
53 |
CFTR |
P13569 |
p.Leu206Trp |
rs121908752 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.998 (D) | N |
54 |
CFTR |
P13569 |
p.Glu217Gly |
rs121909046 |
CYSTIC FIBROSIS [MIM:602421#0134] |
|
|
Detail |
0.39 (T) |
0.081 (N) | N |
55 |
CFTR |
P13569 |
p.Cys225Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
0.297 (N) | N |
56 |
CFTR |
P13569 |
p.Gly239Arg |
rs147432698 |
variant of unknown significance |
|
|
Detail |
0.29 (T) |
0.002 (N) | N |
57 |
CFTR |
P13569 |
p.Met244Lys |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.58 (T) |
0.679 (D) | N |
58 |
CFTR |
P13569 |
p.Arg258Gly |
rs191456345 |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
59 |
CFTR |
P13569 |
p.Met265Arg |
rs148519623 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
0.292 (N) | N |
60 |
CFTR |
P13569 |
p.Glu282Asp |
rs142864834 |
variant of unknown significance |
|
|
Detail |
0.61 (T) |
0.999 (D) | N |
61 |
CFTR |
P13569 |
p.Ile285Phe |
rs151073129 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
62 |
CFTR |
P13569 |
p.Asn287Lys |
rs112162204 |
variant of unknown significance |
|
|
Detail |
0.77 (T) |
0.081 (N) | N |
63 |
CFTR |
P13569 |
p.Asn287Tyr |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.55 (T) |
0.297 (N) | N |
64 |
CFTR |
P13569 |
p.Arg297Gln |
rs143486492 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.55 (T) |
0.189 (N) | N |
65 |
CFTR |
P13569 |
p.Ala300Gly |
rs142134579 |
variant of unknown significance |
|
|
Detail |
0.53 (T) |
0.053 (N) | N |
66 |
CFTR |
P13569 |
p.Tyr301Cys |
rs150691494 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.06 (T) |
0.971 (D) | N |
67 |
CFTR |
P13569 |
p.Ser307Asn |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.40 (T) |
1 (D) | N |
68 |
CFTR |
P13569 |
p.Ala309Thr |
rs148013312 |
variant of unknown significance |
|
|
Detail |
0.49 (T) |
0.715 (D) | N |
69 |
CFTR |
P13569 |
p.Phe311Leu |
rs121909016 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.74 (T) |
0.999 (D) | N |
70 |
CFTR |
P13569 |
p.Gly314Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
0.999 (D) | N |
71 |
CFTR |
P13569 |
p.Gly314Glu |
rs75763344 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.12 (T) |
0.999 (D) | N |
72 |
CFTR |
P13569 |
p.Phe316Leu |
rs78742051 |
variant of unknown significance |
|
|
Detail |
1.00 (T) |
0.025 (N) | N |
73 |
CFTR |
P13569 |
p.Leu320Val |
rs144476686 |
variant of unknown significance |
|
|
Detail |
1.00 (T) |
0.223 (N) | N |
74 |
CFTR |
P13569 |
p.Leu320Phe |
rs56093012 |
variant of unknown significance |
|
|
Detail |
0.07 (T) |
0.001 (N) | N |
75 |
CFTR |
P13569 |
p.Val322Met |
rs1800085 |
variant of unknown significance |
|
|
Detail |
0.06 (T) |
0.955 (D) | N |
76 |
CFTR |
P13569 |
p.Leu327Arg |
rs141115171 |
variant of unknown significance |
|
|
Detail |
0.02 (D) |
0.901 (D) | N |
77 |
CFTR |
P13569 |
p.Arg334Trp |
rs121909011 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
1 (D) | N |
78 |
CFTR |
P13569 |
p.Ile336Lys |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
1 (D) | N |
79 |
CFTR |
P13569 |
p.Thr338Ile |
rs77409459 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.38 (T) |
1 (D) | N |
80 |
CFTR |
P13569 |
p.Ile340Val |
rs150239014 |
variant of unknown significance |
|
|
Detail |
0.75 (T) |
0.53 (D) | N |
81 |
CFTR |
P13569 |
p.Leu346Pro |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
82 |
CFTR |
P13569 |
p.Arg347Leu |
rs77932196 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.12 (T) |
1 (D) | N |
83 |
CFTR |
P13569 |
p.Arg347His |
rs77932196 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.05 (T) |
1 (D) | N |
84 |
CFTR |
P13569 |
p.Arg347Pro |
rs77932196 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.07 (T) |
1 (D) | N |
85 |
CFTR |
P13569 |
p.Met348Lys |
rs142920240 |
variant of unknown significance |
|
|
Detail |
0.24 (T) |
0.999 (D) | N |
86 |
CFTR |
P13569 |
p.Ala349Val |
rs121909021 |
CYSTIC FIBROSIS [MIM:602421#0068] |
|
|
Detail |
0.26 (T) |
0.288 (N) | N |
87 |
CFTR |
P13569 |
p.Thr351Ile |
rs1800086 |
variant of unknown significance |
|
|
Detail |
0.35 (T) |
1 (D) | N |
88 |
CFTR |
P13569 |
p.Thr351Ser |
rs1800086 |
variant of unknown significance |
|
|
Detail |
0.62 (T) |
0.999 (D) | N |
89 |
CFTR |
P13569 |
p.Arg352Gln |
rs121908753 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.29 (T) |
1 (D) | N |
90 |
CFTR |
P13569 |
p.Gln353His |
rs1800087 |
variant of unknown significance |
|
|
Detail |
0.31 (T) |
1 (D) | N |
91 |
CFTR |
P13569 |
p.Pro355Ser |
rs144720913 |
variant of unknown significance |
|
|
Detail |
0.12 (T) |
1 (D) | N |
92 |
CFTR |
P13569 |
p.Gln359Lys |
rs76879328 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.28 (T) |
0.997 (D) | N |
93 |
CFTR |
P13569 |
p.Thr360Lys |
rs75053309 |
CYSTIC FIBROSIS [MIM:602421#0065] |
|
|
Detail |
0.94 (T) |
0.613 (D) | N |
94 |
CFTR |
P13569 |
p.Thr360Ile |
rs75053309 |
CYSTIC FIBROSIS [MIM:602421#0065] |
|
|
Detail |
0.43 (T) |
0.002 (N) | N |
95 |
CFTR |
P13569 |
p.Ser364Pro |
rs78909279 |
variant of unknown significance |
|
|
Detail |
0.08 (T) |
0.984 (D) | N |
96 |
CFTR |
P13569 |
p.Leu365Pro |
rs76727851 |
variant of unknown significance |
|
|
Detail |
0.38 (T) |
0.872 (D) | N |
97 |
CFTR |
P13569 |
p.Ile371Thr |
rs140026105 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
98 |
CFTR |
P13569 |
p.Leu375Phe |
rs73215912 |
variant of unknown significance |
|
|
Detail |
0.05 (T) |
1 (D) | N |
99 |
CFTR |
P13569 |
p.Thr388Met |
rs143860237 |
variant of unknown significance |
1xmi |
D |
Detail |
0.09 (T) |
0.2 (N) | N |
100 |
CFTR |
P13569 |
p.Ala399Val |
rs146463120 |
variant of unknown significance |
1xmi |
D |
Detail |
0.50 (T) |
0.983 (D) | N |
101 |
CFTR |
P13569 |
p.Asn417Lys |
rs4727853 |
variant of unknown significance |
1xmi |
D |
Detail |
0.58 (T) |
0 (N) | N |
102 |
CFTR |
P13569 |
p.Phe433Leu |
rs11531593 |
variant of unknown significance |
1xmi |
D |
Detail |
0.30 (T) |
0 (N) | N |
103 |
CFTR |
P13569 |
p.Asp443Tyr |
rs147422190 |
variant of unknown significance |
1xmi |
D |
Detail |
0.01 (D) |
0.725 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Asp443Glu |
rs148056476 |
variant of unknown significance |
1xmi |
D |
Detail |
0.13 (T) |
0.003 (N) | N |
4 |
CFTR |
P13569 |
p.Ala455Glu |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.Val456Phe |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
0.968 (D) | N |
5 |
CFTR |
P13569 |
p.Gly458Val |
rs121909009 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Leu467Phe |
rs1800089 |
variant of unknown significance |
1xmi |
D |
Detail |
0.11 (T) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Leu467Pro |
rs139573311 |
variant of unknown significance |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Met469Ile |
rs143218779 |
variant of unknown significance |
1xmi |
D |
Detail |
0.38 (T) |
0.999 (D) | N |
6 |
CFTR |
P13569 |
p.Val470Met |
rs213950 |
variant of unknown significance |
1xmi |
D |
Detail |
0.05 (T) |
0 (N) | N |
7 |
CFTR |
P13569 |
p.Pro477Ser |
rs139054556 |
variant of unknown significance |
1xmi |
D |
Detail |
0.77 (T) |
0.968 (D) | N |
8 |
CFTR |
P13569 |
p.Gly480Cys |
rs79282516 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.Ser485Cys |
rs138427145 |
variant of unknown significance |
1xmi |
D |
Detail |
0.06 (T) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Ser485Thr |
rs143980575 |
variant of unknown significance |
1xmi |
D |
Detail |
0.54 (T) |
0.997 (D) | N |
4 |
CFTR |
P13569 |
p.Ser492Phe |
rs121909017 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
0.992 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Glu504Gln |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.57 (T) |
0.11 (N) | N |
4 |
CFTR |
P13569 |
p.Ile506Val |
rs1800091 |
variant of unknown significance |
1xmi |
D |
Detail |
0.00 (D) |
0.997 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Ile506Met |
rs1800092 |
variant of unknown significance |
1xmi |
D |
Detail |
0.00 (D) |
0.999 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Ile507Val |
rs1801178 |
variant of unknown significance |
1xmi |
D |
Detail |
0.09 (T) |
0 (N) | N |
6 |
CFTR |
P13569 |
p.Phe508Cys |
rs74571530 |
variant of unknown significance |
1xmi |
D |
Detail |
0.02 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Asp513Gly |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
1xmi |
D |
Detail |
0.01 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Val520Leu |
rs77646904 |
CYSTIC FIBROSIS [MIM:602421#0046] |
1xmi |
D |
Detail |
0.01 (D) |
0.99 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Val520Phe |
rs77646904 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Val520Ile |
rs77646904 |
CYSTIC FIBROSIS [MIM:602421#0046] |
1xmi |
D |
Detail |
0.01 (D) |
0.473 (N) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Ile521Met |
rs140552874 |
variant of unknown significance |
1xmi |
D |
Detail |
0.00 (D) |
0.828 (D) | N |
6 |
CFTR |
P13569 |
p.Lys532Glu |
rs35032490 |
variant of unknown significance |
1xmi |
D |
Detail |
0.94 (T) |
0.503 (D) | N |
7 |
CFTR |
P13569 |
p.Lys536Glu |
rs148173473 |
variant of unknown significance |
1xmi |
D |
Detail |
0.00 (D) |
0.611 (D) | N |
8 |
CFTR |
P13569 |
p.Ile539Thr |
rs144745159 |
variant of unknown significance |
1xmi |
D |
Detail |
1.00 (T) |
0 (N) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Val540Ile |
rs187318937 |
variant of unknown significance |
1xmi |
D |
Detail |
(-) |
(-) | N |
4 |
CFTR |
P13569 |
p.Gly544Val |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Ser549Ile |
rs121908755 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 4 5 ) |
7 |
CFTR |
P13569 |
p.Ser549Asn |
rs121908755 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 4 ) |
6 |
CFTR |
P13569 |
p.Ser549Arg |
rs121909005 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 4 5 6 ) |
8 |
CFTR |
P13569 |
p.Gly551Asp |
rs75527207 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Gly551Ser |
rs121909013 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Arg553Gln |
rs121909044 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.01 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Ala554Glu |
rs121909022 |
CYSTIC FIBROSIS [MIM:602421#0069] |
1xmi |
D |
Detail |
0.02 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Ile556Val |
rs75789129 |
CYSTIC FIBROSIS [MIM:602421#0090] |
1xmi |
D |
Detail |
1.00 (T) |
0.012 (N) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Leu558Ser |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Ala559Thr |
rs75549581 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Arg560Lys |
rs80055610 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Arg560Ser |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Arg560Thr |
rs80055610 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Ala561Glu |
rs121909047 |
CYSTIC FIBROSIS [MIM:602421#0136] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Val562Leu |
rs1800097 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.28 (T) |
0.021 (N) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Val562Ile |
rs1800097 |
variant of unknown significance |
1xmi |
D |
Detail |
0.08 (T) |
0.001 (N) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.Tyr563Asn |
rs121909006 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Tyr569Asp |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Tyr569His |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.Tyr569Cys |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 4 ) |
6 |
CFTR |
P13569 |
p.Leu571Ser |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.Asp572Asn |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Ser573Phe |
rs139176426 |
variant of unknown significance |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Pro574His |
rs121908758 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Gly576Ala |
rs1800098 |
variant of unknown significance |
1xmi |
D |
Detail |
0.07 (T) |
0.53 (D) | N |
4 |
CFTR |
P13569 |
p.Asp579Gly |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.Ala596Asp |
rs139027193 |
variant of unknown significance |
1xmi |
D |
Detail |
0.63 (T) |
0.981 (D) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.Ile601Phe |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
0.996 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Val603Ile |
rs143036685 |
variant of unknown significance |
1xmi |
D |
Detail |
0.04 (D) |
0.003 (N) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Ser605Phe |
rs766874 |
variant of unknown significance |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | N |
4 |
CFTR |
P13569 |
p.Leu610Ser |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Ala613Thr |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.10 (T) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Asp614Gly |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.01 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Ile618Thr |
rs139468767 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.04 (D) |
0.786 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Leu619Ser |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.His620Gln |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.23 (T) |
0.999 (D) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.His620Pro |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.09 (T) |
0.999 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Gly622Asp |
rs121908759 |
variant of unknown significance |
1xmi |
D |
Detail |
0.02 (D) |
1 (D) | D ( Predicted by rules : 1 2 ) |
4 |
CFTR |
P13569 |
p.Gly628Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.00 (D) |
1 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Leu633Pro |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.04 (D) |
1 (D) | D ( Predicted by rules : 1 2 3 ) |
5 |
CFTR |
P13569 |
p.Asp648Val |
rs121909033 |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.28 (T) |
0 (N) | N |
6 |
CFTR |
P13569 |
p.Asp651Asn |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.17 (T) |
0.997 (D) | D ( Predicted by rules : 1 ) |
3 |
CFTR |
P13569 |
p.Ser654Gly |
rs1800099 |
variant of unknown significance |
1xmi |
D |
Detail |
0.42 (T) |
0.049 (N) | N |
4 |
CFTR |
P13569 |
p.Thr665Ser |
- |
Cystic fibrosis (CF) [MIM:219700] |
1xmi |
D |
Detail |
0.72 (T) |
0.913 (D) | N |
5 |
CFTR |
P13569 |
p.Arg668Cys |
rs1800100 |
variant of unknown significance |
1xmi |
D |
Detail |
0.05 (T) |
1 (D) | N |
6 |
CFTR |
P13569 |
p.Lys683Arg |
rs181878120 |
variant of unknown significance |
|
|
Detail |
(-) |
(-) | N |
7 |
CFTR |
P13569 |
p.Phe693Leu |
rs1800101 |
variant of unknown significance |
|
|
Detail |
0.26 (T) |
0 (N) | N |
8 |
CFTR |
P13569 |
p.Gln715His |
rs141235765 |
variant of unknown significance |
|
|
Detail |
0.40 (T) |
0.007 (N) | N |
9 |
CFTR |
P13569 |
p.Pro718Arg |
rs142432539 |
variant of unknown significance |
|
|
Detail |
0.74 (T) |
0.02 (N) | N |
10 |
CFTR |
P13569 |
p.Ser737Phe |
rs186089140 |
variant of unknown significance |
|
|
Detail |
(-) |
(-) | N |
11 |
CFTR |
P13569 |
p.Pro740Leu |
rs150772285 |
variant of unknown significance |
|
|
Detail |
0.28 (T) |
0.828 (D) | N |
12 |
CFTR |
P13569 |
p.Pro750Leu |
rs140455771 |
variant of unknown significance |
|
|
Detail |
0.32 (T) |
0.005 (N) | N |
13 |
CFTR |
P13569 |
p.Val754Met |
rs150157202 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.10 (T) |
0 (N) | N |
14 |
CFTR |
P13569 |
p.Leu761Pro |
rs77083601 |
variant of unknown significance |
|
|
Detail |
0.07 (T) |
0.208 (N) | N |
15 |
CFTR |
P13569 |
p.Arg766Met |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.11 (T) |
1 (D) | N |
16 |
CFTR |
P13569 |
p.Arg785Gln |
rs141880790 |
variant of unknown significance |
|
|
Detail |
0.46 (T) |
0.001 (N) | N |
17 |
CFTR |
P13569 |
p.Arg792Gly |
rs145449046 |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.15 (T) |
1 (D) | N |
18 |
CFTR |
P13569 |
p.Pro798Ser |
rs138069616 |
variant of unknown significance |
|
|
Detail |
0.73 (T) |
0.013 (N) | N |
19 |
CFTR |
P13569 |
p.Ala800Gly |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.44 (T) |
0 (N) | N |
20 |
CFTR |
P13569 |
p.Ile807Met |
rs1800103 |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.10 (T) |
0.819 (D) | N |
21 |
CFTR |
P13569 |
p.Gly817Val |
rs148604667 |
variant of unknown significance |
|
|
Detail |
0.50 (T) |
0 (N) | N |
22 |
CFTR |
P13569 |
p.Glu822Lys |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.06 (T) |
0.211 (N) | N |
23 |
CFTR |
P13569 |
p.Cys866Tyr |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.67 (T) |
0.988 (D) | N |
24 |
CFTR |
P13569 |
p.Ala872Glu |
rs145714303 |
variant of unknown significance |
|
|
Detail |
1.00 (T) |
0.081 (N) | N |
25 |
CFTR |
P13569 |
p.Leu884His |
rs141508280 |
variant of unknown significance |
|
|
Detail |
0.18 (T) |
0.609 (D) | N |
26 |
CFTR |
P13569 |
p.Leu889Phe |
rs61738523 |
variant of unknown significance |
|
|
Detail |
0.08 (T) |
0 (N) | N |
27 |
CFTR |
P13569 |
p.Tyr903His |
rs1800106 |
variant of unknown significance |
|
|
Detail |
0.26 (T) |
0 (N) | N |
28 |
CFTR |
P13569 |
p.Tyr903Cys |
rs147297080 |
variant of unknown significance |
|
|
Detail |
0.06 (T) |
0.04 (N) | N |
29 |
CFTR |
P13569 |
p.Ser909Ile |
rs1800107 |
variant of unknown significance |
|
|
Detail |
0.28 (T) |
0.163 (N) | N |
30 |
CFTR |
P13569 |
p.Ser912Leu |
rs121909034 |
variant of unknown significance |
|
|
Detail |
0.29 (T) |
0 (N) | N |
31 |
CFTR |
P13569 |
p.Tyr913Cys |
rs121909008 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.17 (T) |
0.941 (D) | N |
32 |
CFTR |
P13569 |
p.Tyr917Cys |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.10 (T) |
1 (D) | N |
33 |
CFTR |
P13569 |
p.Thr940Ile |
rs145768122 |
variant of unknown significance |
|
|
Detail |
0.53 (T) |
0.699 (D) | N |
34 |
CFTR |
P13569 |
p.Val944Ala |
rs141747560 |
variant of unknown significance |
|
|
Detail |
1.00 (T) |
0.001 (N) | N |
35 |
CFTR |
P13569 |
p.His949Tyr |
rs121909035 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
36 |
CFTR |
P13569 |
p.Lys951Glu |
rs181137679 |
variant of unknown significance |
|
|
Detail |
(-) |
(-) | N |
37 |
CFTR |
P13569 |
p.Met952Thr |
rs142773283 |
variant of unknown significance |
|
|
Detail |
0.05 (D) |
0.999 (D) | N |
38 |
CFTR |
P13569 |
p.Met952Ile |
rs151048781 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.24 (T) |
0.997 (D) | N |
39 |
CFTR |
P13569 |
p.Pro960Ser |
rs185397588 |
variant of unknown significance |
|
|
Detail |
(-) |
(-) | N |
40 |
CFTR |
P13569 |
p.Leu967Ser |
rs1800110 |
variant of unknown significance |
|
|
Detail |
0.19 (T) |
0.685 (D) | N |
41 |
CFTR |
P13569 |
p.Ser977Phe |
rs141033578 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
0.244 (N) | N |
42 |
CFTR |
P13569 |
p.Ser977Ala |
rs137975784 |
variant of unknown significance |
|
|
Detail |
0.07 (T) |
0.023 (N) | N |
43 |
CFTR |
P13569 |
p.Leu997Phe |
rs1800111 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.70 (T) |
1 (D) | N |
44 |
CFTR |
P13569 |
p.Gly1003Glu |
rs55803548 |
variant of unknown significance |
|
|
Detail |
0.04 (D) |
1 (D) | N |
45 |
CFTR |
P13569 |
p.Ile1005Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
0.29 (N) | N |
46 |
CFTR |
P13569 |
p.Ala1006Glu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.05 (D) |
0.017 (N) | N |
47 |
CFTR |
P13569 |
p.Ala1009Thr |
rs184724618 |
variant of unknown significance |
|
|
Detail |
(-) |
(-) | N |
48 |
CFTR |
P13569 |
p.Pro1013Leu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.04 (D) |
1 (D) | N |
49 |
CFTR |
P13569 |
p.Tyr1014Cys |
rs149279509 |
variant of unknown significance |
|
|
Detail |
0.08 (T) |
1 (D) | N |
50 |
CFTR |
P13569 |
p.Thr1019Ala |
rs61729420 |
variant of unknown significance |
|
|
Detail |
0.17 (T) |
0 (N) | N |
51 |
CFTR |
P13569 |
p.Val1022Met |
rs144441835 |
variant of unknown significance |
|
|
Detail |
0.10 (T) |
0.72 (D) | N |
52 |
CFTR |
P13569 |
p.Ile1027Phe |
rs79539988 |
variant of unknown significance |
|
|
Detail |
0.73 (T) |
0.086 (N) | N |
53 |
CFTR |
P13569 |
p.Ile1027Thr |
rs1800112 |
variant of unknown significance |
|
|
Detail |
0.26 (T) |
0.017 (N) | N |
54 |
CFTR |
P13569 |
p.Met1028Ile |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.54 (T) |
0 (N) | N |
55 |
CFTR |
P13569 |
p.Tyr1032Cys |
rs144055758 |
variant of unknown significance |
|
|
Detail |
0.01 (D) |
1 (D) | N |
56 |
CFTR |
P13569 |
p.Phe1052Val |
rs150212784 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.09 (T) |
1 (D) | N |
57 |
CFTR |
P13569 |
p.Thr1053Ile |
rs140883683 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
0.695 (D) | N |
58 |
CFTR |
P13569 |
p.Gly1061Arg |
rs142394380 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
59 |
CFTR |
P13569 |
p.Leu1065Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.987 (D) | N |
60 |
CFTR |
P13569 |
p.Leu1065Pro |
rs121909036 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.967 (D) | N |
61 |
CFTR |
P13569 |
p.Arg1066Cys |
rs78194216 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
62 |
CFTR |
P13569 |
p.Arg1066Leu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
63 |
CFTR |
P13569 |
p.Arg1066His |
rs121909019 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.07 (T) |
1 (D) | N |
64 |
CFTR |
P13569 |
p.Ala1067Thr |
rs121909020 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
65 |
CFTR |
P13569 |
p.Ala1067Val |
rs1800114 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
1 (D) | N |
66 |
CFTR |
P13569 |
p.Arg1070Gln |
rs78769542 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.54 (T) |
1 (D) | N |
67 |
CFTR |
P13569 |
p.Arg1070Trp |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.02 (D) |
1 (D) | N |
68 |
CFTR |
P13569 |
p.Arg1070Pro |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.22 (T) |
1 (D) | N |
69 |
CFTR |
P13569 |
p.Gln1071Pro |
rs121909037 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.04 (D) |
0.999 (D) | N |
70 |
CFTR |
P13569 |
p.Pro1072Leu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.19 (T) |
0.045 (N) | N |
71 |
CFTR |
P13569 |
p.Leu1077Pro |
rs139304906 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.13 (T) |
1 (D) | N |
72 |
CFTR |
P13569 |
p.His1085Arg |
rs79635528 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.01 (D) |
1 (D) | N |
73 |
CFTR |
P13569 |
p.Thr1086Ile |
rs77958296 |
variant of unknown significance |
|
|
Detail |
0.13 (T) |
1 (D) | N |
74 |
CFTR |
P13569 |
p.Trp1089Ter |
rs78802634 |
CYSTIC FIBROSIS [MIM:602421#0088] |
|
|
Detail |
(-) |
(-) | N |
75 |
CFTR |
P13569 |
p.Trp1089Cys |
rs150020260 |
variant of unknown significance |
|
|
Detail |
0.03 (D) |
1 (D) | N |
76 |
CFTR |
P13569 |
p.Trp1089Ser |
rs78802634 |
CYSTIC FIBROSIS [MIM:602421#0088] |
|
|
Detail |
0.14 (T) |
1 (D) | N |
77 |
CFTR |
P13569 |
p.Trp1089Leu |
rs78802634 |
CYSTIC FIBROSIS [MIM:602421#0088] |
|
|
Detail |
0.19 (T) |
1 (D) | N |
78 |
CFTR |
P13569 |
p.Trp1098Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.02 (D) |
1 (D) | N |
79 |
CFTR |
P13569 |
p.Met1101Lys |
rs36210737 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.20 (T) |
0.889 (D) | N |
80 |
CFTR |
P13569 |
p.Met1101Arg |
rs36210737 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.24 (T) |
0.944 (D) | N |
81 |
CFTR |
P13569 |
p.Arg1102Lys |
rs35813506 |
variant of unknown significance |
|
|
Detail |
0.23 (T) |
0.689 (D) | N |
82 |
CFTR |
P13569 |
p.Ser1118Phe |
rs146521846 |
variant of unknown significance |
|
|
Detail |
0.72 (T) |
0.987 (D) | N |
83 |
CFTR |
P13569 |
p.Met1137Val |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.04 (D) |
0.991 (D) | N |
84 |
CFTR |
P13569 |
p.Met1137Ile |
rs141150961 |
variant of unknown significance |
|
|
Detail |
0.16 (T) |
0.997 (D) | N |
85 |
CFTR |
P13569 |
p.Asp1152His |
rs75541969 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.468 (N) | N |
86 |
CFTR |
P13569 |
p.Val1153Met |
rs143120209 |
variant of unknown significance |
|
|
Detail |
0.07 (T) |
0.92 (D) | N |
87 |
CFTR |
P13569 |
p.Leu1156Phe |
rs139729994 |
variant of unknown significance |
|
|
Detail |
0.67 (T) |
0.994 (D) | N |
88 |
CFTR |
P13569 |
p.Arg1158Ter |
rs79850223 |
CYSTIC FIBROSIS [MIM:602421#0039] |
|
|
Detail |
(-) |
(-) | N |
89 |
CFTR |
P13569 |
p.Arg1158Gly |
rs79850223 |
CYSTIC FIBROSIS [MIM:602421#0039] |
|
|
Detail |
0.08 (T) |
0.999 (D) | N |
90 |
CFTR |
P13569 |
p.Arg1162Ter |
rs74767530 |
CYSTIC FIBROSIS [MIM:602421#0033] |
|
|
Detail |
(-) |
(-) | N |
91 |
CFTR |
P13569 |
p.Arg1162Gln |
rs1800120 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
1 (D) | N |
92 |
CFTR |
P13569 |
p.Arg1162Leu |
rs1800120 |
variant of unknown significance |
|
|
Detail |
0.04 (D) |
1 (D) | N |
93 |
CFTR |
P13569 |
p.Arg1162Gly |
rs74767530 |
CYSTIC FIBROSIS [MIM:602421#0033] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
94 |
CFTR |
P13569 |
p.Lys1174Thr |
rs137875514 |
variant of unknown significance |
|
|
Detail |
0.58 (T) |
0.001 (N) | N |
95 |
CFTR |
P13569 |
p.Ile1203Val |
rs75647395 |
variant of unknown significance |
|
|
Detail |
0.10 (T) |
0 (N) | N |
96 |
CFTR |
P13569 |
p.Met1210Val |
rs151264397 |
variant of unknown significance |
|
|
Detail |
0.35 (T) |
0.001 (N) | N |
97 |
CFTR |
P13569 |
p.Thr1220Ile |
rs1800123 |
variant of unknown significance |
|
|
Detail |
0.12 (T) |
0 (N) | N |
98 |
CFTR |
P13569 |
p.Asn1229Lys |
rs139322772 |
variant of unknown significance |
|
|
Detail |
0.10 (T) |
0.892 (D) | N |
99 |
CFTR |
P13569 |
p.Ile1234Leu |
rs75389940 |
CYSTIC FIBROSIS [MIM:602421#0110] |
|
|
Detail |
0.03 (D) |
0.003 (N) | N |
100 |
CFTR |
P13569 |
p.Ile1234Val |
rs75389940 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.14 (T) |
0.001 (N) | N |
101 |
CFTR |
P13569 |
p.Ser1235Arg |
rs34911792 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.30 (T) |
0.045 (N) | N |
102 |
CFTR |
P13569 |
p.Gly1244Glu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
103 |
CFTR |
P13569 |
p.Ser1248Leu |
rs148122007 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
0.04 (N) | N |
104 |
CFTR |
P13569 |
p.Gly1249Glu |
rs121909040 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
105 |
CFTR |
P13569 |
p.Ser1251Asn |
rs74503330 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.992 (D) | N |
106 |
CFTR |
P13569 |
p.Ser1255Pro |
rs121909041 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.27 (T) |
0.693 (D) | N |
107 |
CFTR |
P13569 |
p.Asp1270Asn |
rs11971167 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
108 |
CFTR |
P13569 |
p.Trp1282Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
109 |
CFTR |
P13569 |
p.Arg1283Met |
rs77902683 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
110 |
CFTR |
P13569 |
p.Arg1283Lys |
rs77902683 |
CYSTIC FIBROSIS [MIM:602421#0063] |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
111 |
CFTR |
P13569 |
p.Arg1283Thr |
rs77902683 |
CYSTIC FIBROSIS [MIM:602421#0063] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
112 |
CFTR |
P13569 |
p.Phe1286Ser |
rs121909028 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
113 |
CFTR |
P13569 |
p.Gln1291Arg |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.026 (N) | N |
114 |
CFTR |
P13569 |
p.Gln1291His |
rs121909015 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.983 (D) | N |
115 |
CFTR |
P13569 |
p.Asn1303His |
rs121909042 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
116 |
CFTR |
P13569 |
p.Asn1303Lys |
rs80034486 |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
117 |
CFTR |
P13569 |
p.Gln1313Ter |
rs121909026 |
CYSTIC FIBROSIS [MIM:602421#0076] |
|
|
Detail |
(-) |
(-) | N |
118 |
CFTR |
P13569 |
p.Gln1313Lys |
rs121909026 |
CYSTIC FIBROSIS [MIM:602421#0076] |
|
|
Detail |
0.51 (T) |
0.111 (N) | N |
119 |
CFTR |
P13569 |
p.Ile1328Thr |
rs115762793 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
120 |
CFTR |
P13569 |
p.Leu1335Phe |
rs145545286 |
variant of unknown significance |
|
|
Detail |
0.04 (D) |
1 (D) | N |
121 |
CFTR |
P13569 |
p.Gly1349Asp |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
122 |
CFTR |
P13569 |
p.Gln1352His |
rs113857788 |
CYSTIC FIBROSIS [MIM:602421#0133] |
|
|
Detail |
0.00 (D) |
1 (D) | N |
123 |
CFTR |
P13569 |
p.Ala1364Val |
- |
Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180] |
|
|
Detail |
0.02 (D) |
1 (D) | N |
124 |
CFTR |
P13569 |
p.Ala1374Gly |
rs115147093 |
variant of unknown significance |
|
|
Detail |
0.01 (D) |
0.995 (D) | N |
125 |
CFTR |
P13569 |
p.Asp1377His |
rs150683293 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
1 (D) | N |
126 |
CFTR |
P13569 |
p.Val1397Glu |
- |
Cystic fibrosis (CF) [MIM:219700] |
|
|
Detail |
0.00 (D) |
0.999 (D) | N |
127 |
CFTR |
P13569 |
p.Gln1411Pro |
rs150177304 |
variant of unknown significance |
|
|
Detail |
0.00 (D) |
0.997 (D) | N |
128 |
CFTR |
P13569 |
p.Phe1413Leu |
rs142092183 |
variant of unknown significance |
|
|
Detail |
0.10 (T) |
0.982 (D) | N |
129 |
CFTR |
P13569 |
p.Asp1445Asn |
rs148783445 |
variant of unknown significance |
|
|
Detail |
0.09 (T) |
0.762 (D) | N |
130 |
CFTR |
P13569 |
p.Arg1453Gln |
rs141554123 |
variant of unknown significance |
|
|
Detail |
0.55 (T) |
0.004 (N) | N |
131 |
CFTR |
P13569 |
p.Arg1453Trp |
rs4148725 |
variant of unknown significance |
|
|
Detail |
0.02 (D) |
0.97 (D) | N |