You searched for: CFTR Pathogenic: 127 Likely Pathogenic: 18 VOUS: 376 Likely Benign: 17 Benign: 38 Total records returned: 579 You may further refine your search by entering exon, change nomenclature, or classification terms here |
Order | Gene | Exon | Nucleotide Change | Protein Change | Alias Listing | Classification | Last Reviewed | ||
---|---|---|---|---|---|---|---|---|---|
1 | CFTR | Ex1 | NM_000492.3:c.-2C>G | LRG_663t1:c.-2C>G, NM_000492.3:c.-2C>G | VOUS | 06/28/2019 | |||
2 | CFTR | Ex1 | NM_000492.3:c.-4G>C | LRG_663t1:c.-4G>C, NM_000492.3:c.-4G>C | Likely benign | 05/18/2015 | |||
3 | CFTR | Ex1 | NM_000492.3:c.-8G>C | LRG_663t1:c.-8G>C, NM_000492.3:c.-8G>C | Benign | 07/06/2017 | |||
4 | CFTR | Ex1 | NM_000492.3:c.-9C>A | VOUS | 06/04/2020 | ||||
5 | CFTR | Ex1 | NM_000492.3:c.10T>C | p.Ser4Pro | p.S4P | LRG_663t1:c.10T>C, NM_000492.3:c.10T>C | VOUS | 03/05/2019 | ||
6 | CFTR | Ex1 | NM_000492.3:c.14C>T | p.Pro5Leu | p.P5L | LRG_663t1:c.14C>T, NM_000492.3:c.14C>T | Likely pathogenic | 11/20/2017 | ||
7 | CFTR | Ex1 | NM_000492.3:c.19G>T | p.Glu7* | p.E7X | LRG_663t1:c.19G>T, NM_000492.3:c.19G>T | Pathogenic | 05/16/2016 | ||
8 | CFTR | Ex1 | NM_000492.3:c.31G>A | p.Val11Ile | p.V11I | LRG_663t1:c.31G>A, NM_000492.3:c.31G>A | VOUS | 02/23/2021 | ||
9 | CFTR | Ex1 | NM_000492.3:c.-34C>T | VOUS | 03/12/2020 | ||||
10 | CFTR | Ex1 | NM_000492.3:c.40A>G | p.Lys14Glu | p.K14E | LRG_663t1:c.40A>G, NM_000492.3:c.40A>G | VOUS | 12/28/2017 | ||
11 | CFTR | Ex1 | NM_000492.3:c.41A>T | p.Lys14Ile | p.K14I | LRG_663t1:c.41A>T, NM_000492.3:c.41A>T | VOUS | 02/01/2021 | ||
12 | CFTR | Ex1 | NM_000492.3:c.41A>G | p.Lys14Arg | p.K14R | LRG_663t1:c.41A>G, NM_000492.3:c.41A>G | VOUS | 12/28/2020 | ||
13 | CFTR | Ex1 | NM_000492.3:c.49_50dupTT | p.Trp19Alafs*7 | p.W19AfsX7 | LRG_663t1:c.49_50dupTT, NM_000492.3:c.49_50dupTT | Pathogenic | 04/27/2018 | ||
14 | CFTR | Ex1 | NM_000492.3:c.50T>G | p.Phe17Cys | p.F17C | LRG_663t1:c.50T>G, NM_000492.3:c.50T>G | VOUS | 12/03/2019 | ||
15 | CFTR | Ex1 | NM_000492.3:c.53+4A>T | VOUS | 12/17/2020 | ||||
16 | CFTR | Ex1 | NM_000492.3:c.53+9G>T | VOUS | 10/03/2019 | ||||
17 | CFTR | Ex1 | NM_000492.3:c.53+45A>G | LRG_663t1:c.53+45A>G, NM_000492.3:c.53+45A>G | VOUS | ** | |||
18 | CFTR | Ex1 | NM_000492.3:c.-132-680T>G | LRG_663t1:c.-812T>G, NM_000492.3:c.-812T>G | Likely benign | 01/18/2017 | |||
19 | CFTR | Ex1 | NM_000492.3:c.-132-470A>T | VOUS | 08/28/2020 | ||||
20 | CFTR | Ex1 | NM_000492.3:c.-132-329A>G | LRG_663t1:c.-461A>G, NM_000492.3:c.-461A>G | VOUS | 02/26/2021 | |||
21 | CFTR | Ex1 | NM_000492.3:c.-132-316A>G | LRG_663t1:c.-448A>G, NM_000492.3:c.-448A>G | VOUS | 11/02/2020 | |||
22 | CFTR | Ex1 | NM_000492.3:c.-132-156G>A | VOUS | 10/04/2019 | ||||
23 | CFTR | Ex1 | NM_000492.3:c.-132-156G>C | LRG_663t1:c.-288G>C, NM_000492.3:c.-288G>C | Likely benign | 03/20/2017 | |||
24 | CFTR | Ex1 | NM_000492.3:c.-132-94G>T | LRG_663t1:c.-226G>T, NM_000492.3:c.-226G>T | VOUS | 10/09/2020 | |||
25 | CFTR | Ex1 | NM_000492.3:c.-132-33G>A | LRG_663t1:c.-165G>A, NM_000492.3:c.-165G>A | VOUS | 04/19/2018 | |||
26 | CFTR | Ex1 | NM_000492.3:c.-132-20G>C | LRG_663t1:c.-152G>C, NM_000492.3:c.-152G>C | VOUS | 03/08/2021 | |||
27 | CFTR | Ex1 | NM_000492.3:c.-132T>G | LRG_663t1:c.-132T>G, NM_000492.3:c.-132T>G | VOUS | 01/09/2017 | |||
28 | CFTR | Ex2 | NM_000492.3:c.91C>T | p.Arg31Cys | p.R31C | LRG_663t1:c.91C>T, NM_000492.3:c.91C>T | VOUS | 08/18/2020 | ||
29 | CFTR | Ex2 | NM_000492.3:c.92G>T | p.Arg31Leu | p.R31L | LRG_663t1:c.92G>T, NM_000492.3:c.92G>T | VOUS | 06/07/2018 | ||
30 | CFTR | Ex2 | NM_000492.3:c.94C>A | p.Leu32Met | p.L32M | LRG_663t1:c.94C>A, NM_000492.3:c.94C>A | VOUS | 06/15/2017 | ||
31 | CFTR | Ex2 | NM_000492.3:c.104C>T | p.Ser35Leu | p.S35L | LRG_663t1:c.104C>T, NM_000492.3:c.104C>T | VOUS | 02/20/2020 | ||
32 | CFTR | Ex2 | NM_000492.3:c.109A>G | p.Ile37Val | p.I37V | LRG_663t1:c.109A>G, NM_000492.3:c.109A>G | VOUS | 03/15/2018 | ||
33 | CFTR | Ex2 | NM_000492.3:c.117A>C | p.Gln39His | p.Q39H | LRG_663t1:c.117A>C, NM_000492.3:c.117A>C | VOUS | 02/12/2020 | ||
34 | CFTR | Ex2 | NM_000492.3:c.125C>T | p.Ser42Phe | p.S42F | LRG_663t1:c.125C>T, NM_000492.3:c.125C>T | VOUS | 06/29/2018 | ||
35 | CFTR | Ex2 | NM_000492.3:c.137C>T | p.Ala46Val | p.A46V | LRG_663t1:c.137C>T, NM_000492.3:c.137C>T | VOUS | 09/04/2018 | ||
36 | CFTR | Ex2 | NM_000492.3:c.164+3A>G | VOUS | 02/15/2021 | ||||
37 | CFTR | Ex2 | NM_000492.3:c.164+9A>G | LRG_663t1:c.164+9A>G, NM_000492.3:c.164+9A>G | VOUS | 12/26/2018 | |||
38 | CFTR | Ex2 | NM_000492.3:c.164+10delTinsATGA | LRG_663t1:c.164+10delinsATGA, NM_000492.3:c.164+10delinsATGA | VOUS | ** | |||
39 | CFTR | Ex2 | NM_000492.3:c.164+12T>C | LRG_663t1:c.164+12T>C, NM_000492.3:c.164+12T>C | VOUS | 10/26/2018 | |||
40 | CFTR | Ex2 | NM_000492.3:c.164+28A>G | LRG_663t1:c.164+28A>G, NM_000492.3:c.164+28A>G | Benign | 11/20/2018 | |||
41 | CFTR | Ex3 | NM_000492.3:c.165-3C>T | LRG_663t1:c.165-3C>T, NM_000492.3:c.165-3C>T | Pathogenic | 12/31/2018 | |||
42 | CFTR | Ex3 | NM_000492.3:c.165-1G>A | LRG_663t1:c.165-1G>A, NM_000492.3:c.165-1G>A | Pathogenic | 01/19/2016 | |||
43 | CFTR | Ex3 | NM_000492.3:c.166G>A | p.Glu56Lys | p.E56K | LRG_663t1:c.166G>A, NM_000492.3:c.166G>A | Likely pathogenic | 08/25/2020 | ||
44 | CFTR | Ex3 | NM_000492.3:c.180G>C | p.Glu60Asp | p.E60D | LRG_663t1:c.180G>C, NM_000492.3:c.180G>C | VOUS | 03/01/2021 | ||
45 | CFTR | Ex3 | NM_000492.3:c.181C>T | p.Leu61= | p.L61= | LRG_663t1:c.181C>T, NM_000492.3:c.181C>T | VOUS | 12/11/2018 | ||
46 | CFTR | Ex3 | NM_000492.3:c.200C>T | p.Pro67Leu | p.P67L | LRG_663t1:c.200C>T | Pathogenic | 01/13/2020 | ||
47 | CFTR | Ex3 | NM_000492.3:c.202A>G | p.Lys68Glu | p.K68E | LRG_663t1:c.202A>G, NM_000492.3:c.202A>G | VOUS | 08/21/2018 | ||
48 | CFTR | Ex3 | NM_000492.3:c.204A>T | p.Lys68Asn | p.K68N | LRG_663t1:c.204A>T, NM_000492.3:c.204A>T | VOUS | 10/22/2019 | ||
49 | CFTR | Ex3 | NM_000492.3:c.220C>T | p.Arg74Trp | p.R74W | LRG_663t1:c.220C>T, NM_000492.3:c.220C>T | VOUS | 01/30/2021 | ||
50 | CFTR | Ex3 | NM_000492.3:c.221G>A | p.Arg74Gln | p.R74Q | LRG_663t1:c.221G>A, NM_000492.3:c.221G>A | VOUS | 12/03/2019 | ||
51 | CFTR | Ex3 | NM_000492.3:c.224G>A | p.Arg75Gln | p.R75Q | LRG_663t1:c.224G>A, NM_000492.3:c.224G>A | Likely benign | 10/20/2017 | ||
52 | CFTR | Ex3 | NM_000492.3:c.226T>A | p.Cys76Ser | p.C76S | LRG_663t1:c.226T>A, NM_000492.3:c.226T>A | VOUS | 09/06/2016 | ||
53 | CFTR | Ex3 | NM_000492.3:c.233dupT | p.Trp79Leufs*32 | p.W79LfsX32 | LRG_663t1:c.233dupT, NM_000492.3:c.233dupT | Pathogenic | 10/10/2018 | ||
54 | CFTR | Ex3 | NM_000492.3:c.246G>A | p.Met82Ile | p.M82I | LRG_663t1:c.246G>A, NM_000492.3:c.246G>A | VOUS | 03/22/2019 | ||
55 | CFTR | Ex3 | NM_000492.3:c.250T>C | p.Tyr84His | p.Y84H | LRG_663t1:c.250T>C, NM_000492.3:c.250T>C | VOUS | 01/26/2017 | ||
56 | CFTR | Ex3 | NM_000492.3:c.254G>A | p.Gly85Glu | p.G85E | LRG_663t1:c.254G>A, NM_000492.3:c.254G>A | Pathogenic | 06/18/2020 | ||
57 | CFTR | Ex3 | NM_000492.3:c.256A>G | p.Ile86Val | p.I86V | LRG_663t1:c.256A>G, NM_000492.3:c.256A>G | VOUS | 09/30/2019 | ||
58 | CFTR | Ex3 | NM_000492.3:c.262_263delTT | p.Leu88Ilefs*22 | p.L88IfsX22 | LRG_663t1:c.262_263delTT, NM_000492.3:c.262_263delTT | Pathogenic | ** | ||
59 | CFTR | Ex4 | NM_000492.3:c.274-8T>C | VOUS | 12/29/2020 | ||||
60 | CFTR | Ex4 | NM_000492.3:c.274-6T>C | LRG_663t1:c.274-6T>C, NM_000492.3:c.274-6T>C | VOUS | 02/11/2021 | |||
61 | CFTR | Ex4 | NM_000492.3:c.274-1G>A | LRG_663t1:c.274-1G>A, NM_000492.3:c.274-1G>A | Pathogenic | 06/24/2014 | |||
62 | CFTR | Ex4 | NM_000492.3:c.290T>C | p.Val97Ala | p.V97A | VOUS | ** | |||
63 | CFTR | Ex4 | NM_000492.3:c.316A>G | p.Ile106Val | p.I106V | LRG_663t1:c.316A>G, NM_000492.3:c.316A>G | VOUS | 10/05/2016 | ||
64 | CFTR | Ex4 | NM_000492.3:c.326A>G | p.Tyr109Cys | p.Y109C | LRG_663t1:c.326A>G, NM_000492.3:c.326A>G | Likely pathogenic | 02/08/2019 | ||
65 | CFTR | Ex4 | NM_000492.3:c.328G>C | p.Asp110His | p.D110H | LRG_663t1:c.328G>C, NM_000492.3:c.328G>C | Pathogenic | 09/11/2020 | ||
66 | CFTR | Ex4 | NM_000492.3:c.328G>T | p.Asp110Tyr | p.D110Y | LRG_663t1:c.328G>T, NM_000492.3:c.328G>T | Pathogenic | ** | ||
67 | CFTR | Ex4 | NM_000492.3:c.330C>A | p.Asp110Glu | p.D110E | LRG_663t1:c.330C>A, NM_000492.3:c.330C>A | Pathogenic | 05/23/2017 | ||
68 | CFTR | Ex4 | NM_000492.3:c.332C>T | p.Pro111Leu | p.P111L | LRG_663t1:c.332C>T, NM_000492.3:c.332C>T | VOUS | 08/07/2019 | ||
69 | CFTR | Ex4 | NM_000492.3:c.332C>G | p.Pro111Arg | p.P111R | LRG_663t1:c.332C>G, NM_000492.3:c.332C>G | VOUS | 08/02/2016 | ||
70 | CFTR | Ex4 | NM_000492.3:c.335A>G | p.Asp112Gly | p.D112G | LRG_663t1:c.335A>G, NM_000492.3:c.335A>G | VOUS | 09/03/2020 | ||
71 | CFTR | Ex4 | NM_000492.3:c.349C>T | p.Arg117Cys | p.R117C | LRG_663t1:c.349C>T, NM_000492.3:c.349C>T | Pathogenic | 12/15/2020 | ||
72 | CFTR | Ex4 | NM_000492.3:c.350G>A | p.Arg117His | p.R117H | LRG_663t1:c.350G>A, NM_000492.3:c.350G>A | Pathogenic | 08/03/2020 | ||
73 | CFTR | Ex4 | NM_000492.3:c.350G>T | p.Arg117Leu | p.R117L | LRG_663t1:c.350G>T, NM_000492.3:c.350G>T | Pathogenic | ** | ||
74 | CFTR | Ex4 | NM_000492.3:c.358G>A | p.Ala120Thr | p.A120T | LRG_663t1:c.358G>A, NM_000492.3:c.358G>A | VOUS | 12/03/2019 | ||
75 | CFTR | Ex4 | NM_000492.3:c.360G>A | p.Ala120= | p.A120= | LRG_663t1:c.360G>A, NM_000492.3:c.360G>A | VOUS | 08/22/2019 | ||
76 | CFTR | Ex4 | NM_000492.3:c.374T>C | p.Ile125Thr | p.I125T | LRG_663t1:c.374T>C, NM_000492.3:c.374T>C | Likely benign | 03/13/2017 | ||
77 | CFTR | Ex4 | NM_000492.3:c.377G>T | p.Gly126Val | p.G126V | LRG_663t1:c.377G>T, NM_000492.3:c.377G>T | VOUS | 05/25/2018 | ||
78 | CFTR | Ex4 | NM_000492.3:c.393T>C | p.Phe131= | p.F131= | LRG_663t1:c.393T>C, NM_000492.3:c.393T>C | VOUS | 08/30/2018 | ||
79 | CFTR | Ex4 | NM_000492.3:c.403A>G | p.Thr135Ala | p.T135A | LRG_663t1:c.403A>G, NM_000492.3:c.403A>G | VOUS | 12/13/2017 | ||
80 | CFTR | Ex4 | NM_000492.3:c.416A>C | p.His139Pro | p.H139P | LRG_663t1:c.416A>C, NM_000492.3:c.416A>C | VOUS | 03/30/2018 | ||
81 | CFTR | Ex4 | NM_000492.3:c.418C>T | p.Pro140Ser | p.P140S | LRG_663t1:c.418C>T, NM_000492.3:c.418C>T | VOUS | 06/30/2020 | ||
82 | CFTR | Ex4 | NM_000492.3:c.442delA | p.Ile148Leufs*5 | p.I148LfsX5 | LRG_663t1:c.442delA, NM_000492.3:c.442delA | Pathogenic | 09/22/2017 | ||
83 | CFTR | Ex4 | NM_000492.3:c.443T>A | p.Ile148Asn | p.I148N | LRG_663t1:c.443T>A, NM_000492.3:c.443T>A | VOUS | 02/27/2017 | ||
84 | CFTR | Ex4 | NM_000492.3:c.443T>C | p.Ile148Thr | p.I148T | LRG_663t1:c.443T>C, NM_000492.3:c.443T>C | Benign | 08/06/2012 | ||
85 | CFTR | Ex4 | NM_000492.3:c.451C>A | p.Gln151Lys | p.Q151K | LRG_663t1:c.451C>A, NM_000492.3:c.451C>A | VOUS | 07/14/2019 | ||
86 | CFTR | Ex4 | NM_000492.3:c.454A>T | p.Met152Leu | p.M152L | LRG_663t1:c.454A>T, NM_000492.3:c.454A>T | VOUS | 01/09/2019 | ||
87 | CFTR | Ex4 | NM_000492.3:c.473G>C | p.Ser158Thr | p.S158T | LRG_663t1:c.473G>C, NM_000492.3:c.473G>C | VOUS | 02/05/2020 | ||
88 | CFTR | Ex4 | NM_000492.3:c.478A>G | p.Ile160Val | p.I160V | LRG_663t1:c.478A>G, NM_000492.3:c.478A>G | VOUS | 07/06/2020 | ||
89 | CFTR | Ex4 | NM_000492.3:c.489+1G>T | 621+1G->T, LRG_663t1:c.489+1G>T, NM_000492.3:c.489+1G>T | Pathogenic | 11/24/2018 | |||
90 | CFTR | Ex4 | NM_000492.3:c.489+3A>G | LRG_663t1:c.489+3A>G, NM_000492.3:c.489+3A>G | VOUS | 01/21/2021 | |||
91 | CFTR | Ex4 | NM_000492.3:c.489+4A>G | VOUS | 10/20/2020 | ||||
92 | CFTR | Ex4 | NM_000492.3:c.489+7C>T | VOUS | 12/29/2020 | ||||
93 | CFTR | Ex4 | NM_000492.3:c.489+8T>G | LRG_663t1:c.489+8T>G, NM_000492.3:c.489+8T>G | VOUS | 02/20/2018 | |||
94 | CFTR | Ex4 | NM_000492.3:c.489+87A>G | LRG_663t1:c.489+87A>G, NM_000492.3:c.489+87A>G | VOUS | 02/15/2018 | |||
95 | CFTR | Ex5 | NM_000492.3:c.509G>A | p.Arg170His | p.R170H | LRG_663t1:c.509G>A, NM_000492.3:c.509G>A | VOUS | 11/17/2020 | ||
96 | CFTR | Ex5 | NM_000492.3:c.530T>C | p.Ile177Thr | p.I177T | LRG_663t1:c.530T>C, NM_000492.3:c.530T>C | VOUS | 11/07/2018 | ||
97 | CFTR | Ex5 | NM_000492.3:c.538C>G | p.Leu180Val | p.L180V | LRG_663t1:c.538C>G, NM_000492.3:c.538C>G | VOUS | 04/08/2019 | ||
98 | CFTR | Ex5 | NM_000492.3:c.547C>A | p.Leu183Ile | p.L183I | LRG_663t1:c.547C>A, NM_000492.3:c.547C>A | VOUS | 03/26/2019 | ||
99 | CFTR | Ex5 | NM_000492.3:c.561C>T | p.Asn187= | p.N187= | LRG_663t1:c.561C>T, NM_000492.3:c.561C>T | VOUS | 06/26/2018 | ||
100 | CFTR | Ex5 | NM_000492.3:c.571T>G | p.Phe191Val | p.F191V | LRG_663t1:c.571T>G, NM_000492.3:c.571T>G | Likely pathogenic | 02/06/2020 | ||
101 | CFTR | Ex5 | NM_000492.3:c.577G>T | p.Glu193* | p.E193X | NM_000492.3:c.577G>T | Pathogenic | 08/18/2014 | ||
102 | CFTR | Ex5 | NM_000492.3:c.579+1G>T | LRG_663t1:c.579+1G>T, NM_000492.3:c.579+1G>T | Pathogenic | 05/19/2016 | |||
103 | CFTR | Ex5 | NM_000492.3:c.579+4delT | VOUS | ** | ||||
104 | CFTR | Ex5 | NM_000492.3:c.579+4T>C | VOUS | 08/06/2020 | ||||
105 | CFTR | Ex6 | NM_000492.3:c.581G>T | p.Gly194Val | p.G194V | LRG_663t1:c.581G>T, NM_000492.3:c.581G>T | VOUS | 11/07/2017 | ||
106 | CFTR | Ex6 | NM_000492.3:c.592G>C | p.Ala198Pro | p.A198P | LRG_663t1:c.592G>C, NM_000492.3:c.592G>C | VOUS | 03/14/2016 | ||
107 | CFTR | Ex6 | NM_000492.3:c.592G>A | p.Ala198Thr | p.A198T | LRG_663t1:c.592G>A, NM_000492.3:c.592G>A | VOUS | 01/27/2017 | ||
108 | CFTR | Ex6 | NM_000492.3:c.598T>A | p.Phe200Ile | p.F200I | LRG_663t1:c.598T>A, NM_000492.3:c.598T>A | VOUS | 08/06/2020 | ||
109 | CFTR | Ex6 | NM_000492.3:c.601G>A | p.Val201Met | p.V201M | LRG_663t1:c.601G>A, NM_000492.3:c.601G>A | VOUS | 01/11/2021 | ||
110 | CFTR | Ex6 | NM_000492.3:c.610G>A | p.Ala204Thr | p.A204T | LRG_663t1:c.610G>A, NM_000492.3:c.610G>A | VOUS | 10/07/2020 | ||
111 | CFTR | Ex6 | NM_000492.3:c.613C>T | p.Pro205Ser | p.P205S | LRG_663t1:c.613C>T, NM_000492.3:c.613C>T | Pathogenic | 03/12/2019 | ||
112 | CFTR | Ex6 | NM_000492.3:c.617T>G | p.Leu206Trp | p.L206W | LRG_663t1:c.617T>G, NM_000492.3:c.617T>G | Pathogenic | 03/19/2020 | ||
113 | CFTR | Ex6 | NM_000492.3:c.625G>T | p.Ala209Ser | p.A209S | LRG_663t1:c.625G>T, NM_000492.3:c.625G>T | VOUS | 01/20/2021 | ||
114 | CFTR | Ex6 | NM_000492.3:c.638G>T | p.Gly213Val | p.G213V | LRG_663t1:c.638G>T, NM_000492.3:c.638G>T | VOUS | 03/05/2020 | ||
115 | CFTR | Ex6 | NM_000492.3:c.648G>T | p.Trp216Cys | p.W216C | LRG_663t1:c.648G>T, NM_000492.3:c.648G>T | VOUS | 06/12/2018 | ||
116 | CFTR | Ex6 | NM_000492.3:c.650A>G | p.Glu217Gly | p.E217G | LRG_663t1:c.650A>G, NM_000492.3:c.650A>G | VOUS | 12/15/2020 | ||
117 | CFTR | Ex6 | NM_000492.3:c.663G>A | p.Ala221= | p.A221= | LRG_663t1:c.663G>A, NM_000492.3:c.663G>A | VOUS | 08/25/2016 | ||
118 | CFTR | Ex6 | NM_000492.3:c.688C>T | p.Leu230= | p.L230= | LRG_663t1:c.688C>T, NM_000492.3:c.688C>T | VOUS | 04/17/2018 | ||
119 | CFTR | Ex6 | NM_000492.3:c.695T>A | p.Val232Asp | p.V232D | LRG_663t1:c.695T>A, NM_000492.3:c.695T>A | Pathogenic | 04/04/2018 | ||
120 | CFTR | Ex6 | NM_000492.3:c.708delT | Pathogenic | ** | ||||
121 | CFTR | Ex6 | NM_000492.3:c.709C>G | p.Gln237Glu | p.Q237E | LRG_663t1:c.709C>G, NM_000492.3:c.709C>G | Likely pathogenic | 01/08/2019 | ||
122 | CFTR | Ex6 | NM_000492.3:c.710A>T | p.Gln237Leu | p.Q237L | LRG_663t1:c.710A>T, NM_000492.3:c.710A>T | VOUS | 01/08/2019 | ||
123 | CFTR | Ex6 | NM_000492.3:c.710A>G | p.Gln237Arg | p.Q237R | LRG_663t1:c.710A>G, NM_000492.3:c.710A>G | VOUS | 01/08/2019 | ||
124 | CFTR | Ex6 | NM_000492.3:c.711G>T | p.Gln237His | p.Q237H | LRG_663t1:c.711G>T, NM_000492.3:c.711G>T | VOUS | 12/28/2018 | ||
125 | CFTR | Ex6 | NM_000492.3:c.711G>C | p.Gln237His | p.Q237H | LRG_663t1:c.711G>C, NM_000492.3:c.711G>C | VOUS | 01/08/2019 | ||
126 | CFTR | Ex6 | NM_000492.3:c.715G>A | p.Gly239Arg | p.G239R | LRG_663t1:c.715G>A, NM_000492.3:c.715G>A | VOUS | 10/04/2019 | ||
127 | CFTR | Ex6 | NM_000492.3:c.738G>A | p.Lys246= | p.K246= | LRG_663t1:c.738G>A, NM_000492.3:c.738G>A | Likely benign | 12/07/2016 | ||
128 | CFTR | Ex6 | NM_000492.3:c.743+1G>A | LRG_663t1:c.743+1G>A, NM_000492.3:c.743+1G>A | Pathogenic | 07/06/2016 | |||
129 | CFTR | Ex6 | NM_000492.3:c.743+40A>G | NM_000492.3:c.743+40A>G | Benign | ** | |||
130 | CFTR | Ex7 | NM_000492.3:c.744-33GATT(6_9) | Benign | 01/29/2021 | ||||
131 | CFTR | Ex7 | NM_000492.3:c.744-9_744-6dupGATT | LRG_663t1:c.744-9_744-6dupGATT, NM_000492.3:c.744-9_744-6dupGATT | Benign | 06/23/2017 | |||
132 | CFTR | Ex7 | NM_000492.3:c.757G>A | p.Gly253Arg | p.G253R | LRG_663t1:c.757G>A, NM_000492.3:c.757G>A | VOUS | 12/30/2020 | ||
133 | CFTR | Ex7 | NM_000492.3:c.770A>G | p.Glu257Gly | p.E257G | LRG_663t1:c.770A>G, NM_000492.3:c.770A>G | VOUS | 02/15/2021 | ||
134 | CFTR | Ex7 | NM_000492.3:c.772A>G | p.Arg258Gly | p.R258G | LRG_663t1:c.772A>G, NM_000492.3:c.772A>G | VOUS | 10/02/2019 | ||
135 | CFTR | Ex7 | NM_000492.3:c.780G>C | p.Val260= | p.V260= | LRG_663t1:c.780G>C, NM_000492.3:c.780G>C | VOUS | 10/07/2020 | ||
136 | CFTR | Ex7 | NM_000492.3:c.794T>G | p.Met265Arg | p.M265R | LRG_663t1:c.794T>G, NM_000492.3:c.794T>G | VOUS | 02/11/2019 | ||
137 | CFTR | Ex7 | NM_000492.3:c.803delA | p.Asn268Ilefs*17 | p.N268IfsX17 | LRG_663t1:c.803delA, NM_000492.3:c.803delA | Pathogenic | 07/25/2019 | ||
138 | CFTR | Ex7 | NM_000492.3:c.806T>C | p.Ile269Thr | p.I269T | LRG_663t1:c.806T>C, NM_000492.3:c.806T>C | VOUS | 06/26/2020 | ||
139 | CFTR | Ex7 | NM_000492.3:c.837A>T | p.Glu279Asp | p.E279D | LRG_663t1:c.837A>T, NM_000492.3:c.837A>T | VOUS | 03/27/2017 | ||
140 | CFTR | Ex7 | NM_000492.3:c.842T>C | p.Met281Thr | p.M281T | LRG_663t1:c.842T>C, NM_000492.3:c.842T>C | VOUS | 08/19/2019 | ||
141 | CFTR | Ex7 | NM_000492.3:c.846A>T | p.Glu282Asp | p.E282D | LRG_663t1:c.846A>T, NM_000492.3:c.846A>T | VOUS | 12/13/2019 | ||
142 | CFTR | Ex7 | NM_000492.3:c.848_860delAAATGATTGAAAAinsTG | NM_000492.3:c.848_860delinsTG | Pathogenic | 10/27/2014 | |||
143 | CFTR | Ex7 | NM_000492.3:c.850dupA | LRG_663t1:c.850_851insA, NM_000492.3:c.850_851insA | Pathogenic | 03/28/2016 | |||
144 | CFTR | Ex7 | NM_000492.3:c.853A>T | p.Ile285Phe | p.I285F | LRG_663t1:c.853A>T, NM_000492.3:c.853A>T | Likely benign | 06/23/2017 | ||
145 | CFTR | Ex7 | NM_000492.3:c.860A>G | p.Asn287Ser | p.N287S | LRG_663t1:c.860A>G, NM_000492.3:c.860A>G | VOUS | 02/20/2020 | ||
146 | CFTR | Ex7 | NM_000492.3:c.861C>G | p.Asn287Lys | p.N287K | LRG_663t1:c.861C>G, NM_000492.3:c.861C>G | VOUS | 09/25/2018 | ||
147 | CFTR | Ex7 | NM_000492.3:c.869+1G>C | LRG_663t1:c.869+1G>C, NM_000492.3:c.869+1G>C | Pathogenic | 06/14/2018 | |||
148 | CFTR | Ex7 | NM_000492.3:c.869+11C>T | LRG_663t1:c.869+11C>T, NM_000492.3:c.869+11C>T | Benign | 05/19/2016 | |||
149 | CFTR | Ex7 | NM_000492.3:c.869+40A>G | NM_000492.3:c.869+40A>G | Benign | ** | |||
150 | CFTR | Ex8 | NM_000492.3:c.870-7_870-5delTTT | LRG_663t1:c.870-7_870-5delTTT, NM_000492.3:c.870-7_870-5delTTT | Likely benign | 05/30/2017 | |||
151 | CFTR | Ex8 | NM_000492.3:c.870-2A>G | Pathogenic | 01/28/2021 | ||||
152 | CFTR | Ex8 | NM_000492.3:c.889C>T | p.Arg297Trp | p.R297W | LRG_663t1:c.889C>T, NM_000492.3:c.889C>T | VOUS | 06/18/2020 | ||
153 | CFTR | Ex8 | NM_000492.3:c.890G>A | p.Arg297Gln | p.R297Q | LRG_663t1:c.890G>A, NM_000492.3:c.890G>A | Likely benign | 09/26/2014 | ||
154 | CFTR | Ex8 | NM_000492.3:c.902A>G | p.Tyr301Cys | p.Y301C | LRG_663t1:c.902A>G, NM_000492.3:c.902A>G | VOUS | 09/03/2019 | ||
155 | CFTR | Ex8 | NM_000492.3:c.925G>T | p.Ala309Ser | p.A309S | LRG_663t1:c.925G>T, NM_000492.3:c.925G>T | VOUS | 02/07/2019 | ||
156 | CFTR | Ex8 | NM_000492.3:c.926C>G | p.Ala309Gly | p.A309G | LRG_663t1:c.926C>G, NM_000492.3:c.926C>G | VOUS | 11/14/2017 | ||
157 | CFTR | Ex8 | NM_000492.3:c.935_937delTCT | p.Phe312del | p.F312del | LRG_663t1:c.935_937delTCT, NM_000492.3:c.935_937delTCT | Pathogenic | 11/19/2013 | ||
158 | CFTR | Ex8 | NM_000492.3:c.944T>C | p.Phe315Ser | p.F315S | LRG_663t1:c.944T>C, NM_000492.3:c.944T>C | VOUS | 09/15/2017 | ||
159 | CFTR | Ex8 | NM_000492.3:c.948delT | p.Phe316Leufs*12 | p.F316LfsX12 | LRG_663t1:c.948delT, NM_000492.3:c.948delT | Pathogenic | 08/15/2017 | ||
160 | CFTR | Ex8 | NM_000492.3:c.948T>G | p.Phe316Leu | p.F316L | LRG_663t1:c.948T>G, NM_000492.3:c.948T>G | VOUS | 11/09/2017 | ||
161 | CFTR | Ex8 | NM_000492.3:c.958T>G | p.Leu320Val | p.L320V | LRG_663t1:c.958T>G, NM_000492.3:c.958T>G | VOUS | 10/27/2020 | ||
162 | CFTR | Ex8 | NM_000492.3:c.960A>G | p.Leu320= | p.L320= | LRG_663t1:c.960A>G, NM_000492.3:c.960A>G | VOUS | 06/18/2019 | ||
163 | CFTR | Ex8 | NM_000492.3:c.974A>G | p.Tyr325Cys | p.Y325C | LRG_663t1:c.974A>G, NM_000492.3:c.974A>G | VOUS | 09/13/2018 | ||
164 | CFTR | Ex8 | NM_000492.3:c.1000C>T | p.Arg334Trp | p.R334W | LRG_663t1:c.1000C>T, NM_000492.3:c.1000C>T | Pathogenic | ** | ||
165 | CFTR | Ex8 | NM_000492.3:c.1001G>A | p.Arg334Gln | p.R334Q | LRG_663t1:c.1001G>A, NM_000492.3:c.1001G>A | VOUS | 12/24/2018 | ||
166 | CFTR | Ex8 | NM_000492.3:c.1007T>A | p.Ile336Lys | p.I336K | LRG_663t1:c.1007T>A, NM_000492.3:c.1007T>A | Pathogenic | 03/15/2017 | ||
167 | CFTR | Ex8 | NM_000492.3:c.1021T>C | p.Ser341Pro | p.S341P | LRG_663t1:c.1021T>C, NM_000492.3:c.1021T>C | Pathogenic | 10/10/2016 | ||
168 | CFTR | Ex8 | NM_000492.3:c.1022_1023insTC | 1157InsTC, NM_000492.3:c.1022_1023insTC | Pathogenic | 07/10/2014 | |||
169 | CFTR | Ex8 | NM_000492.3:c.1039C>T | p.Arg347Cys | p.R347C | LRG_663t1:c.1039C>T, NM_000492.3:c.1039C>T | VOUS | 09/27/2017 | ||
170 | CFTR | Ex8 | NM_000492.3:c.1040G>C | p.Arg347Pro | p.R347P | LRG_663t1:c.1040G>C, NM_000492.3:c.1040G>C | Pathogenic | 10/17/2018 | ||
171 | CFTR | Ex8 | NM_000492.3:c.1043T>A | p.Met348Lys | p.M348K | LRG_663t1:c.1043T>A, NM_000492.3:c.1043T>A | Likely benign | 06/08/2020 | ||
172 | CFTR | Ex8 | NM_000492.3:c.1046C>T | p.Ala349Val | p.A349V | LRG_663t1:c.1046C>T, NM_000492.3:c.1046C>T | VOUS | 01/29/2021 | ||
173 | CFTR | Ex8 | NM_000492.3:c.1047G>A | p.Ala349= | p.A349= | LRG_663t1:c.1047G>A, NM_000492.3:c.1047G>A | VOUS | 12/15/2017 | ||
174 | CFTR | Ex8 | NM_000492.3:c.1052C>G | p.Thr351Ser | p.T351S | LRG_663t1:c.1052C>G, NM_000492.3:c.1052C>G | VOUS | 06/04/2020 | ||
175 | CFTR | Ex8 | NM_000492.3:c.1054C>T | p.Arg352Trp | p.R352W | LRG_663t1:c.1054C>T, NM_000492.3:c.1054C>T | VOUS | 11/30/2020 | ||
176 | CFTR | Ex8 | NM_000492.3:c.1055G>A | p.Arg352Gln | p.R352Q | LRG_663t1:c.1055G>A, NM_000492.3:c.1055G>A | Pathogenic | ** | ||
177 | CFTR | Ex8 | NM_000492.3:c.1066_1072delTGGGCTGinsA | NM_000492.3:c.1066_1072delinsA | VOUS | 05/29/2015 | |||
178 | CFTR | Ex8 | NM_000492.3:c.1083delG | p.Trp361Cysfs*8 | p.W361CfsX8 | LRG_663t1:c.1083delG, NM_000492.3:c.1083delG | Pathogenic | 04/18/2017 | ||
179 | CFTR | Ex8 | NM_000492.3:c.1116+6G>C | LRG_663t1:c.1116+6G>C, NM_000492.3:c.1116+6G>C | VOUS | 03/21/2017 | |||
180 | CFTR | Ex9 | NM_000492.3:c.1118A>T | p.Asp373Val | p.D373V | LRG_663t1:c.1118A>T, NM_000492.3:c.1118A>T | VOUS | 08/21/2019 | ||
181 | CFTR | Ex9 | NM_000492.3:c.1125A>C | p.Leu375Phe | p.L375F | LRG_663t1:c.1125A>C, NM_000492.3:c.1125A>C | Likely pathogenic | 09/18/2019 | ||
182 | CFTR | Ex9 | NM_000492.3:c.1139A>G | p.Tyr380Cys | p.Y380C | LRG_663t1:c.1139A>G, NM_000492.3:c.1139A>G | VOUS | 05/20/2020 | ||
183 | CFTR | Ex9 | NM_000492.3:c.1149G>A | p.Leu383= | p.L383= | LRG_663t1:c.1149G>A, NM_000492.3:c.1149G>A | VOUS | 10/09/2017 | ||
184 | CFTR | Ex9 | NM_000492.3:c.1163C>T | p.Thr388Met | p.T388M | LRG_663t1:c.1163C>T, NM_000492.3:c.1163C>T | VOUS | 07/24/2019 | ||
185 | CFTR | Ex9 | NM_000492.3:c.1164G>A | p.Thr388= | p.T388= | LRG_663t1:c.1164G>A, NM_000492.3:c.1164G>A | VOUS | 05/19/2017 | ||
186 | CFTR | Ex9 | NM_000492.3:c.1196C>T | p.Ala399Val | p.A399V | LRG_663t1:c.1196C>T, NM_000492.3:c.1196C>T | VOUS | 07/27/2020 | ||
187 | CFTR | Ex10 | NM_000492.3:c.1210-32T>G | LRG_663t1:c.1210-32T>G, NM_000492.3:c.1210-32T>G | VOUS | 09/23/2016 | |||
188 | CFTR | Ex10 | NM_000492.3:c.1210-17_1210-12delGTGTGT | NM_000492.3:c.1210-17_1210-12delGTGTGT | VOUS | 02/10/2021 | |||
189 | CFTR | Ex10 | NM_000492.3:c.1210-15G>T | LRG_663t1:c.1210-15G>T, NM_000492.3:c.1210-15G>T | VOUS | 06/26/2017 | |||
190 | CFTR | Ex10 | NM_000492.3:c.1210-14_1210-13insTG | LRG_663t1:c.1210-14_1210-13insTG, NM_000492.3:c.1210-14_1210-13insTG | Benign | 07/02/2014 | |||
191 | CFTR | Ex10 | NM_000492.3:c.1210-13GT(10_12) | Benign | ** | ||||
192 | CFTR | Ex10 | NM_000492.3:c.1210-13G>T | NM_000492.3:c.1210-13G>T | Benign | 01/31/2014 | |||
193 | CFTR | Ex10 | NM_000492.3:c.1210-13_1210-10delGTTT | LRG_663t1:c.1210-13_1210-10delGTTT, NM_000492.3:c.1210-13_1210-10delGTTT | VOUS | 09/23/2016 | |||
194 | CFTR | Ex10 | NM_000492.3:c.1210-12T(5_9) | Other Reportable | 01/29/2021 | ||||
195 | CFTR | Ex10 | NM_000492.3:c.1210-11T>G | LRG_663t1:c.1210-11T>G, NM_000492.3:c.1210-11T>G | Other Reportable | 05/19/2016 | |||
196 | CFTR | Ex10 | NM_000492.3:c.1210-7_1210-6dupTT | LRG_663t1:c.1210-7_1210-6dupTT, NM_000492.3:c.1210-6_1210-5insTT, NM_000492.3:c.1210-7_1210-6dupTT | Benign | 09/29/2014 | |||
197 | CFTR | Ex10 | NM_000492.3:c.1210-7_1210-6delTT | LRG_663t1:c.1210-7_1210-6delTT, NM_000492.3:c.1210-7_1210-6delTT | Other Reportable | 05/06/2019 | |||
198 | CFTR | Ex10 | NM_000492.3:c.1210-6T>A | VOUS | 05/29/2020 | ||||
199 | CFTR | Ex10 | NM_000492.3:c.1210-2_1210-1delAG | LRG_663t1:c.1210-2_1210-1delAG, NM_000492.3:c.1210-2_1210-1delAG | Pathogenic | 10/04/2019 | |||
200 | CFTR | Ex10 | NM_000492.3:c.1227T>C | p.Phe409= | p.F409= | LRG_663t1:c.1227T>C, NM_000492.3:c.1227T>C | VOUS | 03/29/2019 | ||
201 | CFTR | Ex10 | NM_000492.3:c.1231A>G | p.Lys411Glu | p.K411E | LRG_663t1:c.1231A>G, NM_000492.3:c.1231A>G | VOUS | 04/19/2019 | ||
202 | CFTR | Ex10 | NM_000492.3:c.1234_1238delGCAAA | p.Ala412Thrfs*4 | p.A412TfsX4 | LRG_663t1:c.1234_1238delGCAAA, NM_000492.3:c.1234_1238delGCAAA | Pathogenic | 09/22/2016 | ||
203 | CFTR | Ex10 | NM_000492.3:c.1251C>A | p.Asn417Lys | p.N417K | LRG_663t1:c.1251C>A, NM_000492.3:c.1251C>A | Benign | 03/21/2015 | ||
204 | CFTR | Ex10 | NM_000492.3:c.1254T>C | p.Asn418= | p.N418= | NM_000492.3:c.1254T>C | Benign | 08/19/2014 | ||
205 | CFTR | Ex10 | NM_000492.3:c.1270G>A | p.Gly424Ser | p.G424S | LRG_663t1:c.1270G>A, NM_000492.3:c.1270G>A | VOUS | 04/18/2019 | ||
206 | CFTR | Ex10 | NM_000492.3:c.1301_1307delCACTTCT | Pathogenic | ** | ||||
207 | CFTR | Ex10 | NM_000492.3:c.1312A>G | p.Thr438Ala | p.T438A | LRG_663t1:c.1312A>G, NM_000492.3:c.1312A>G | VOUS | 08/31/2018 | ||
208 | CFTR | Ex10 | NM_000492.3:c.1327G>T | p.Asp443Tyr | p.D443Y | LRG_663t1:c.1327G>T, NM_000492.3:c.1327G>T | Pathogenic | 12/14/2020 | ||
209 | CFTR | Ex10 | NM_000492.3:c.1327_1330dupGATA | p.Ile444Argfs*3 | p.I444RfsX3 | LRG_663t1:c.1327_1330dupGATA, NM_000492.3:c.1327_1330dupGATA | Pathogenic | 11/08/2019 | ||
210 | CFTR | Ex10 | NM_000492.3:c.1331T>C | p.Ile444Thr | p.I444T | LRG_663t1:c.1331T>C, NM_000492.3:c.1331T>C | VOUS | 12/21/2017 | ||
211 | CFTR | Ex10 | NM_000492.3:c.1340delA | NM_000492.3:c.1340delA | Pathogenic | ** | |||
212 | CFTR | Ex10 | NM_000492.3:c.1343T>A | p.Ile448Lys | p.I448K | VOUS | ** | |||
213 | CFTR | Ex10 | NM_000492.3:c.1360_1362delTTG | p.Leu454del | p.L454del | LRG_663t1:c.1360_1362delTTG, NM_000492.3:c.1360_1362delTTG | Likely benign | 01/11/2017 | ||
214 | CFTR | Ex10 | NM_000492.3:c.1364C>A | p.Ala455Glu | p.A455E | LRG_663t1:c.1364C>A, NM_000492.3:c.1364C>A | Pathogenic | ** | ||
215 | CFTR | Ex10 | NM_000492.3:c.1364C>T | p.Ala455Val | p.A455V | LRG_663t1:c.1364C>T, NM_000492.3:c.1364C>T | VOUS | 08/06/2020 | ||
216 | CFTR | Ex10 | NM_000492.3:c.1365G>A | p.Ala455= | p.A455= | LRG_663t1:c.1365G>A, NM_000492.3:c.1365G>A | Likely benign | 02/23/2021 | ||
217 | CFTR | Ex10 | NM_000492.3:c.1365G>T | p.Ala455= | p.A455= | LRG_663t1:c.1365G>T, NM_000492.3:c.1365G>T | VOUS | 01/12/2016 | ||
218 | CFTR | Ex10 | NM_000492.3:c.1367T>C | p.Val456Ala | p.V456A | LRG_663t1:c.1367T>C, NM_000492.3:c.1367T>C | Pathogenic | 07/26/2019 | ||
219 | CFTR | Ex11 | NM_000492.3:c.1393-42G>A | LRG_663t1:c.1393-42G>A, NM_000492.3:c.1393-42G>A | Benign | 01/19/2017 | |||
220 | CFTR | Ex11 | NM_000492.3:c.1393-3C>A | VOUS | 05/07/2020 | ||||
221 | CFTR | Ex11 | NM_000492.3:c.1397C>G | p.Ser466* | p.S466X | LRG_663t1:c.1397C>G, NM_000492.3:c.1397C>G | Pathogenic | 02/24/2017 | ||
222 | CFTR | Ex11 | NM_000492.3:c.1400T>C | p.Leu467Pro | p.L467P | LRG_663t1:c.1400T>C, NM_000492.3:c.1400T>C | Pathogenic | 04/24/2017 | ||
223 | CFTR | Ex11 | NM_000492.3:c.1408A>G | p.Met470Val | p.M470V | LRG_663t1:c.1408A>G, NM_000492.3:c.1408A>G | Benign | 12/03/2020 | ||
224 | CFTR | Ex11 | NM_000492.3:c.1408G>A | p.Val470Met | p.V470M | LRG_663t1:c.1408G>A, NM_000492.3:c.1408G>A | Benign | 12/03/2020 | ||
225 | CFTR | Ex11 | NM_000492.3:c.1414A>G | p.Met472Val | p.M472V | LRG_663t1:c.1414A>G, NM_000492.3:c.1414A>G | VOUS | 11/05/2019 | ||
226 | CFTR | Ex11 | NM_000492.3:c.1430C>A | p.Pro477His | p.P477H | LRG_663t1:c.1430C>A, NM_000492.3:c.1430C>A | VOUS | 07/28/2016 | ||
227 | CFTR | Ex11 | NM_000492.3:c.1436A>C | p.Glu479Ala | p.E479A | LRG_663t1:c.1436A>C, NM_000492.3:c.1436A>C | VOUS | 04/07/2016 | ||
228 | CFTR | Ex11 | NM_000492.3:c.1438G>T | p.Gly480Cys | p.G480C | LRG_663t1:c.1438G>T, NM_000492.3:c.1438G>T | Pathogenic | 09/30/2013 | ||
229 | CFTR | Ex11 | NM_000492.3:c.1446T>A | p.Ile482= | p.I482= | LRG_663t1:c.1446T>A, NM_000492.3:c.1446T>A | VOUS | 04/27/2018 | ||
230 | CFTR | Ex11 | NM_000492.3:c.1450C>T | p.His484Tyr | p.H484Y | LRG_663t1:c.1450C>T, NM_000492.3:c.1450C>T | VOUS | 05/08/2017 | ||
231 | CFTR | Ex11 | NM_000492.3:c.1454G>C | p.Ser485Thr | p.S485T | LRG_663t1:c.1454G>C, NM_000492.3:c.1454G>C | VOUS | 02/18/2019 | ||
232 | CFTR | Ex11 | NM_000492.3:c.1457G>A | p.Gly486Glu | p.G486E | LRG_663t1:c.1457G>A, NM_000492.3:c.1457G>A | VOUS | 05/20/2020 | ||
233 | CFTR | Ex11 | NM_000492.3:c.1477C>T | p.Gln493* | p.Q493X | LRG_663t1:c.1477C>T, NM_000492.3:c.1477C>T | Pathogenic | 07/21/2020 | ||
234 | CFTR | Ex11 | NM_000492.3:c.1479G>C | p.Gln493His | p.Q493H | LRG_663t1:c.1479G>C, NM_000492.3:c.1479G>C | VOUS | 11/04/2016 | ||
235 | CFTR | Ex11 | NM_000492.3:c.1499G>A | p.Gly500Asp | p.G500D | LRG_663t1:c.1499G>A, NM_000492.3:c.1499G>A | VOUS | 08/12/2016 | ||
236 | CFTR | Ex11 | NM_000492.3:c.1516A>G | p.Ile506Val | p.I506V | LRG_663t1:c.1516A>G, NM_000492.3:c.1516A>G | Benign | 07/06/2016 | ||
237 | CFTR | Ex11 | NM_000492.3:c.1517T>C | p.Ile506Thr | p.I506T | LRG_663t1:c.1517T>C, NM_000492.3:c.1517T>C | Likely pathogenic | 07/30/2018 | ||
238 | CFTR | Ex11 | NM_000492.3:c.1519_1521delATC | p.Ile507del | p.I507del | LRG_663t1:c.1519_1521delATC, NM_000492.3:c.1519_1521delATC | Pathogenic | 11/30/2018 | ||
239 | CFTR | Ex11 | NM_000492.3:c.1521_1523delCTT | p.Phe508del | p.F508del | delF508, DeltaF508, dF508, LRG_663t1:c.1521_1523delCTT, NM_000492.3:c.1521_1523delCTT | Pathogenic | 10/08/2020 | ||
240 | CFTR | Ex11 | NM_000492.3:c.1523T>G | p.Phe508Cys | p.F508C | LRG_663t1:c.1523T>G, NM_000492.3:c.1523T>G | Benign | 04/14/2016 | ||
241 | CFTR | Ex11 | NM_000492.3:c.1534T>A | p.Tyr512Asn | p.Y512N | LRG_663t1:c.1534T>A, NM_000492.3:c.1534T>A | VOUS | 11/15/2017 | ||
242 | CFTR | Ex11 | NM_000492.3:c.1552A>G | p.Arg518Gly | p.R518G | LRG_663t1:c.1552A>G, NM_000492.3:c.1552A>G | VOUS | 04/26/2018 | ||
243 | CFTR | Ex11 | NM_000492.3:c.1558G>A | p.Val520Ile | p.V520I | LRG_663t1:c.1558G>A, NM_000492.3:c.1558G>A | VOUS | 10/05/2020 | ||
244 | CFTR | Ex11 | NM_000492.3:c.1561A>C | p.Ile521Leu | p.I521L | LRG_663t1:c.1561A>C, NM_000492.3:c.1561A>C | VOUS | 07/31/2020 | ||
245 | CFTR | Ex11 | NM_000492.3:c.1567G>T | p.Ala523Ser | p.A523S | LRG_663t1:c.1567G>T, NM_000492.3:c.1567G>T | VOUS | 02/20/2020 | ||
246 | CFTR | Ex11 | NM_000492.3:c.1582G>A | p.Glu528Lys | p.E528K | LRG_663t1:c.1582G>A, NM_000492.3:c.1582G>A | VOUS | 05/21/2018 | ||
247 | CFTR | Ex11 | NM_000492.3:c.1584G>T | p.Glu528Asp | p.E528D | LRG_663t1:c.1584G>T, NM_000492.3:c.1584G>T | VOUS | 12/20/2017 | ||
248 | CFTR | Ex11 | NM_000492.3:c.1584G>A | p.Glu528= | p.E528= | LRG_663t1:c.1584G>A, NM_000492.3:c.1584G>A | Benign | 12/03/2019 | ||
249 | CFTR | Ex12 | NM_000492.3:c.1585-8G>A | Likely pathogenic | 02/24/2021 | ||||
250 | CFTR | Ex12 | NM_000492.3:c.1585-1G>A | LRG_663t1:c.1585-1G>A, NM_000492.3:c.1585-1G>A | Pathogenic | 10/01/2019 | |||
251 | CFTR | Ex12 | NM_000492.3:c.1586A>G | p.Asp529Gly | p.D529G | LRG_663t1:c.1586A>G, NM_000492.3:c.1586A>G | VOUS | 12/04/2017 | ||
252 | CFTR | Ex12 | NM_000492.3:c.1606A>G | p.Lys536Glu | p.K536E | LRG_663t1:c.1606A>G, NM_000492.3:c.1606A>G | VOUS | 12/03/2019 | ||
253 | CFTR | Ex12 | NM_000492.3:c.1612A>C | p.Asn538His | p.N538H | LRG_663t1:c.1612A>C, NM_000492.3:c.1612A>C | VOUS | 05/13/2019 | ||
254 | CFTR | Ex12 | NM_000492.3:c.1616T>C | p.Ile539Thr | p.I539T | LRG_663t1:c.1616T>C, NM_000492.3:c.1616T>C | VOUS | 08/10/2020 | ||
255 | CFTR | Ex12 | NM_000492.3:c.1624G>T | p.Gly542* | p.G542X | LRG_663t1:c.1624G>T, NM_000492.3:c.1624G>T | Pathogenic | 05/28/2020 | ||
256 | CFTR | Ex12 | NM_000492.3:c.1630G>A | p.Gly544Ser | p.G544S | LRG_663t1:c.1630G>A, NM_000492.3:c.1630G>A | VOUS | 09/11/2019 | ||
257 | CFTR | Ex12 | NM_000492.3:c.1645A>C | p.Ser549Arg | p.S549R | LRG_663t1:c.1645A>C, NM_000492.3:c.1645A>C | Pathogenic | ** | ||
258 | CFTR | Ex12 | NM_000492.3:c.1646G>A | p.Ser549Asn | p.S549N | LRG_663t1:c.1646G>A, NM_000492.3:c.1646G>A | Pathogenic | 09/17/2020 | ||
259 | CFTR | Ex12 | NM_000492.3:c.1651G>A | p.Gly551Ser | p.G551S | LRG_663t1:c.1651G>A, NM_000492.3:c.1651G>A | Pathogenic | ** | ||
260 | CFTR | Ex12 | NM_000492.3:c.1652G>A | p.Gly551Asp | p.G551D | LRG_663t1:c.1652G>A, NM_000492.3:c.1652G>A | Pathogenic | 02/02/2021 | ||
261 | CFTR | Ex12 | NM_000492.3:c.1655A>C | p.Gln552Pro | p.Q552P | LRG_663t1:c.1655A>C, NM_000492.3:c.1655A>C | VOUS | 07/17/2019 | ||
262 | CFTR | Ex12 | NM_000492.3:c.1657C>T | p.Arg553* | p.R553X | LRG_663t1:c.1657C>T, NM_000492.3:c.1657C>T | Pathogenic | 08/15/2017 | ||
263 | CFTR | Ex12 | NM_000492.3:c.1666A>G | p.Ile556Val | p.I556V | LRG_663t1:c.1666A>G, NM_000492.3:c.1666A>G | Benign | 10/17/2014 | ||
264 | CFTR | Ex12 | NM_000492.3:c.1674A>G | p.Leu558= | p.L558= | LRG_663t1:c.1674A>G, NM_000492.3:c.1674A>G | VOUS | 08/07/2019 | ||
265 | CFTR | Ex12 | NM_000492.3:c.1675G>A | p.Ala559Thr | p.A559T | LRG_663t1:c.1675G>A, NM_000492.3:c.1675G>A | Pathogenic | 02/22/2018 | ||
266 | CFTR | Ex12 | NM_000492.3:c.1675G>C | p.Ala559Pro | p.A559P | VOUS | ** | |||
267 | CFTR | Ex12 | NM_000492.3:c.1679G>C | p.Arg560Thr | p.R560T | LRG_663t1:c.1679G>C, NM_000492.3:c.1679G>C | Pathogenic | 05/09/2019 | ||
268 | CFTR | Ex12 | NM_000492.3:c.1679G>A | p.Arg560Lys | p.R560K | LRG_663t1:c.1679G>A, NM_000492.3:c.1679G>A | Pathogenic | ** | ||
269 | CFTR | Ex12 | NM_000492.3:c.1679+1G>A | LRG_663t1:c.1679+1G>A, NM_000492.3:c.1679+1G>A | Pathogenic | 04/28/2016 | |||
270 | CFTR | Ex12 | NM_000492.3:c.1679+16T>C | VOUS | 07/16/2019 | ||||
271 | CFTR | Ex12 | NM_000492.3:c.1679+18G>C | VOUS | 10/02/2020 | ||||
272 | CFTR | Ex13 | NM_000492.3:c.1680-886A>G | LRG_663t1:c.1680-886A>G, NM_000492.3:c.1680-886A>G | Pathogenic | 05/06/2020 | |||
273 | CFTR | Ex13 | NM_000492.3:c.1680-877G>T | Likely pathogenic | 05/19/2020 | ||||
274 | CFTR | Ex13 | NM_000492.3:c.1680-8C>A | LRG_663t1:c.1680-8C>A, NM_000492.3:c.1680-8C>A | VOUS | 07/17/2018 | |||
275 | CFTR | Ex13 | NM_000492.3:c.1680-6T>G | LRG_663t1:c.1680-6T>G, NM_000492.3:c.1680-6T>G | VOUS | 06/13/2019 | |||
276 | CFTR | Ex13 | NM_000492.3:c.1681G>A | p.Ala561Thr | p.A561T | LRG_663t1:c.1681G>A, NM_000492.3:c.1681G>A | VOUS | 09/10/2020 | ||
277 | CFTR | Ex13 | NM_000492.3:c.1682C>T | p.Ala561Val | p.A561V | LRG_663t1:c.1682C>T, NM_000492.3:c.1682C>T | VOUS | 03/20/2020 | ||
278 | CFTR | Ex13 | NM_000492.3:c.1684G>A | p.Val562Ile | p.V562I | LRG_663t1:c.1684G>A, NM_000492.3:c.1684G>A | VOUS | 11/08/2019 | ||
279 | CFTR | Ex13 | NM_000492.3:c.1692delA | p.Asp565Metfs*7 | p.D565MfsX7 | LRG_663t1:c.1692delA, NM_000492.3:c.1692delA | Pathogenic | ** | ||
280 | CFTR | Ex13 | NM_000492.3:c.1706A>G | p.Tyr569Cys | p.Y569C | Pathogenic | ** | |||
281 | CFTR | Ex13 | NM_000492.3:c.1707T>C | p.Tyr569= | p.Y569= | VOUS | 12/16/2019 | |||
282 | CFTR | Ex13 | NM_000492.3:c.1718C>T | p.Ser573Phe | p.S573F | LRG_663t1:c.1718C>T, NM_000492.3:c.1718C>T | VOUS | 03/13/2020 | ||
283 | CFTR | Ex13 | NM_000492.3:c.1721C>A | p.Pro574His | p.P574H | Pathogenic | ** | |||
284 | CFTR | Ex13 | NM_000492.3:c.1727G>C | p.Gly576Ala | p.G576A | LRG_663t1:c.1727G>C, NM_000492.3:c.1727G>C | VOUS | 10/12/2020 | ||
285 | CFTR | Ex13 | NM_000492.3:c.1753G>T | p.Glu585* | p.E585X | LRG_663t1:c.1753G>T, NM_000492.3:c.1753G>T | Pathogenic | 08/07/2017 | ||
286 | CFTR | Ex13 | NM_000492.3:c.1763A>G | p.Glu588Gly | p.E588G | LRG_663t1:c.1763A>G, NM_000492.3:c.1763A>G | VOUS | 06/30/2017 | ||
287 | CFTR | Ex13 | NM_000492.3:c.1766+1G>A | Pathogenic | 10/27/2020 | ||||
288 | CFTR | Ex13 | NM_000492.3:c.1766+2T>A | LRG_663t1:c.1766+2T>A, NM_000492.3:c.1766+2T>A | Pathogenic | 08/31/2018 | |||
289 | CFTR | Ex13 | NM_000492.3:c.1766+3A>G | LRG_663t1:c.1766+3A>G, NM_000492.3:c.1766+3A>G | Pathogenic | 05/23/2016 | |||
290 | CFTR | Ex13 | NM_000492.3:c.1766+26T>C | VOUS | ** | ||||
291 | CFTR | Ex13 | NM_000492.3:c.1766+73T>G | LRG_663t1:c.1766+73T>G, NM_000492.3:c.1766+73T>G | VOUS | 02/01/2021 | |||
292 | CFTR | Ex14 | NM_000492.3:c.1801A>G | p.Ile601Val | p.I601V | LRG_663t1:c.1801A>G, NM_000492.3:c.1801A>G | VOUS | 03/25/2020 | ||
293 | CFTR | Ex14 | NM_000492.3:c.1807G>A | p.Val603Ile | p.V603I | LRG_663t1:c.1807G>A, NM_000492.3:c.1807G>A | VOUS | 11/14/2019 | ||
294 | CFTR | Ex14 | NM_000492.3:c.1811C>G | p.Thr604Ser | p.T604S | LRG_663t1:c.1811C>G, NM_000492.3:c.1811C>G | VOUS | 04/19/2019 | ||
295 | CFTR | Ex14 | NM_000492.3:c.1820_1903del | p.Met607_Gln634del | p.M607_Q634del | LRG_663t1:c.1820_1903delTGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA, NM_000492.3:c.1820_1903delTGGAACATTTAAAGAAAGCTGACAAAATATTAATTTTGCATGAAGGTAGCAGCTATTTTTATGGGACATTTTCAGAACTCCAAA | Pathogenic | 11/09/2018 | ||
296 | CFTR | Ex14 | NM_000492.3:c.1821G>A | p.Met607Ile | p.M607I | LRG_663t1:c.1821G>A, NM_000492.3:c.1821G>A | VOUS | 05/19/2020 | ||
297 | CFTR | Ex14 | NM_000492.3:c.1826A>G | p.His609Arg | p.H609R | LRG_663t1:c.1826A>G, NM_000492.3:c.1826A>G | Pathogenic | 07/14/2019 | ||
298 | CFTR | Ex14 | NM_000492.3:c.1853T>C | p.Ile618Thr | p.I618T | LRG_663t1:c.1853T>C, NM_000492.3:c.1853T>C | Pathogenic | 02/02/2021 | ||
299 | CFTR | Ex14 | NM_000492.3:c.1865G>A | p.Gly622Asp | p.G622D | LRG_663t1:c.1865G>A | Pathogenic | 09/17/2020 | ||
300 | CFTR | Ex14 | NM_000492.3:c.1882G>C | p.Gly628Arg | p.G628R | LRG_663t1:c.1882G>C, NM_000492.3:c.1882G>C | Likely pathogenic | 12/22/2017 | ||
301 | CFTR | Ex14 | NM_000492.3:c.1885A>G | p.Thr629Ala | p.T629A | LRG_663t1:c.1885A>G, NM_000492.3:c.1885A>G | VOUS | 11/13/2019 | ||
302 | CFTR | Ex14 | NM_000492.3:c.1897C>A | p.Leu633Ile | p.L633I | LRG_663t1:c.1897C>A, NM_000492.3:c.1897C>A | VOUS | 05/11/2020 | ||
303 | CFTR | Ex14 | NM_000492.3:c.1920T>C | p.Phe640= | p.F640= | LRG_663t1:c.1920T>C, NM_000492.3:c.1920T>C | VOUS | 01/11/2021 | ||
304 | CFTR | Ex14 | NM_000492.3:c.1970delG | Pathogenic | ** | ||||
305 | CFTR | Ex14 | NM_000492.3:c.2002C>T | p.Arg668Cys | p.R668C | LRG_663t1:c.2002C>T, NM_000492.3:c.2002C>T | VOUS | 11/19/2020 | ||
306 | CFTR | Ex14 | NM_000492.3:c.2042A>T | p.Glu681Val | p.E681V | LRG_663t1:c.2042A>T, NM_000492.3:c.2042A>T | VOUS | 03/25/2016 | ||
307 | CFTR | Ex14 | NM_000492.3:c.2051_2052delAAinsG | p.Lys684Serfs*38 | p.K684SfsX38 | LRG_663t1:c.2051_2052delinsG, NM_000492.3:c.2051_2052delinsG | Pathogenic | 01/02/2020 | ||
308 | CFTR | Ex14 | NM_000492.3:c.2052delA | p.Lys684Asnfs*38 | p.K684NfsX38 | LRG_663t1:c.2052delA, NM_000492.3:c.2052delA | Pathogenic | 07/14/2020 | ||
309 | CFTR | Ex14 | NM_000492.3:c.2052dupA | p.Gln685Thrfs*4 | p.Q685TfsX4 | LRG_663t1:c.2052dupA, NM_000492.3:c.2052dup, NM_000492.3:c.2052dupA | Pathogenic | 12/03/2013 | ||
310 | CFTR | Ex14 | NM_000492.3:c.2052_2053insA | Pathogenic | ** | ||||
311 | CFTR | Ex14 | NM_000492.3:c.2055A>G | p.Gln685= | p.Q685= | LRG_663t1:c.2055A>G, NM_000492.3:c.2055A>G | VOUS | 09/04/2018 | ||
312 | CFTR | Ex14 | NM_000492.3:c.2079T>G | p.Phe693Leu | p.F693L | LRG_663t1:c.2079T>G, NM_000492.3:c.2079T>G | VOUS | 02/20/2020 | ||
313 | CFTR | Ex14 | NM_000492.3:c.2125C>T | p.Arg709* | p.R709X | LRG_663t1:c.2125C>T, NM_000492.3:c.2125C>T | Pathogenic | 05/31/2018 | ||
314 | CFTR | Ex14 | NM_000492.3:c.2145A>C | p.Gln715His | p.Q715H | LRG_663t1:c.2145A>C, NM_000492.3:c.2145A>C | VOUS | 07/26/2017 | ||
315 | CFTR | Ex14 | NM_000492.3:c.2153C>G | p.Pro718Arg | p.P718R | LRG_663t1:c.2153C>G, NM_000492.3:c.2153C>G | VOUS | 11/04/2020 | ||
316 | CFTR | Ex14 | NM_000492.3:c.2168G>T | p.Gly723Val | p.G723V | LRG_663t1:c.2168G>T, NM_000492.3:c.2168G>T | VOUS | 11/06/2020 | ||
317 | CFTR | Ex14 | NM_000492.3:c.2169C>T | p.Gly723= | p.G723= | LRG_663t1:c.2169C>T, NM_000492.3:c.2169C>T | VOUS | 10/02/2020 | ||
318 | CFTR | Ex14 | NM_000492.3:c.2173G>A | p.Glu725Lys | p.E725K | LRG_663t1:c.2173G>A, NM_000492.3:c.2173G>A | VOUS | 12/27/2016 | ||
319 | CFTR | Ex14 | NM_000492.3:c.2175dupA | p.Glu726Argfs*4 | p.E726RfsX4 | c2307dupA, LRG_663t1:c.2175dupA, NM_000492.3:c.2175dupA | Pathogenic | 01/19/2018 | ||
320 | CFTR | Ex14 | NM_000492.3:c.2191C>T | p.Pro731Ser | p.P731S | LRG_663t1:c.2191C>T, NM_000492.3:c.2191C>T | VOUS | 05/28/2020 | ||
321 | CFTR | Ex14 | NM_000492.3:c.2193T>C | p.Pro731= | p.P731= | LRG_663t1:c.2193T>C, NM_000492.3:c.2193T>C | VOUS | 05/09/2016 | ||
322 | CFTR | Ex14 | NM_000492.3:c.2205G>C | p.Arg735Ser | p.R735S | LRG_663t1:c.2205G>C, NM_000492.3:c.2205G>C | VOUS | 10/31/2018 | ||
323 | CFTR | Ex14 | NM_000492.3:c.2210C>T | p.Ser737Phe | p.S737F | LRG_663t1:c.2210C>T, NM_000492.3:c.2210C>T | Pathogenic | ** | ||
324 | CFTR | Ex14 | NM_000492.3:c.2245C>T | p.Leu749= | p.L749= | LRG_663t1:c.2245C>T, NM_000492.3:c.2245C>T | VOUS | 08/07/2020 | ||
325 | CFTR | Ex14 | NM_000492.3:c.2249C>T | p.Pro750Leu | p.P750L | LRG_663t1:c.2249C>T, NM_000492.3:c.2249C>T | VOUS | 01/12/2021 | ||
326 | CFTR | Ex14 | NM_000492.3:c.2251C>T | p.Arg751Cys | p.R751C | LRG_663t1:c.2251C>T, NM_000492.3:c.2251C>T | VOUS | 12/27/2017 | ||
327 | CFTR | Ex14 | NM_000492.3:c.2260G>A | p.Val754Met | p.V754M | LRG_663t1:c.2260G>A, NM_000492.3:c.2260G>A | VOUS | 12/09/2020 | ||
328 | CFTR | Ex14 | NM_000492.3:c.2280G>A | p.Thr760= | p.T760= | LRG_663t1:c.2280G>A, NM_000492.3:c.2280G>A | VOUS | 01/21/2019 | ||
329 | CFTR | Ex14 | NM_000492.3:c.2347A>G | p.Ile783Val | p.I783V | LRG_663t1:c.2347A>G, NM_000492.3:c.2347A>G | VOUS | 04/16/2019 | ||
330 | CFTR | Ex14 | NM_000492.3:c.2353C>T | p.Arg785* | p.R785X | LRG_663t1:c.2353C>T, NM_000492.3:c.2353C>T | Pathogenic | 09/24/2019 | ||
331 | CFTR | Ex14 | NM_000492.3:c.2372_2377delCACGAA | p.Thr791_Arg792del | p.T791_R792del | LRG_663t1:c.2372_2377delCACGAA, NM_000492.3:c.2372_2377delCACGAA | VOUS | 08/11/2017 | ||
332 | CFTR | Ex14 | NM_000492.3:c.2374C>A | p.Arg792= | p.R792= | VOUS | ** | |||
333 | CFTR | Ex14 | NM_000492.3:c.2374C>G | p.Arg792Gly | p.R792G | LRG_663t1:c.2374C>G, NM_000492.3:c.2374C>G | VOUS | 08/18/2020 | ||
334 | CFTR | Ex14 | NM_000492.3:c.2392C>T | p.Pro798Ser | p.P798S | LRG_663t1:c.2392C>T, NM_000492.3:c.2392C>T | VOUS | 01/27/2017 | ||
335 | CFTR | Ex14 | NM_000492.3:c.2393C>G | p.Pro798Arg | p.P798R | LRG_663t1:c.2393C>G, NM_000492.3:c.2393C>G | VOUS | 12/02/2019 | ||
336 | CFTR | Ex14 | NM_000492.3:c.2421A>G | p.Ile807Met | p.I807M | LRG_663t1:c.2421A>G, NM_000492.3:c.2421A>G | VOUS | 07/03/2020 | ||
337 | CFTR | Ex14 | NM_000492.3:c.2424T>C | p.Tyr808= | p.Y808= | LRG_663t1:c.2424T>C, NM_000492.3:c.2424T>C | VOUS | 01/30/2020 | ||
338 | CFTR | Ex14 | NM_000492.3:c.2450G>T | p.Gly817Val | p.G817V | LRG_663t1:c.2450G>T, NM_000492.3:c.2450G>T | VOUS | 12/03/2019 | ||
339 | CFTR | Ex14 | NM_000492.3:c.2458A>T | p.Ile820Leu | p.I820L | VOUS | 12/19/2019 | |||
340 | CFTR | Ex14 | NM_000492.3:c.2475C>T | p.Asn825= | p.N825= | LRG_663t1:c.2475C>T, NM_000492.3:c.2475C>T | VOUS | 10/11/2019 | ||
341 | CFTR | Ex14 | NM_000492.3:c.2482G>A | p.Asp828Asn | p.D828N | LRG_663t1:c.2482G>A, NM_000492.3:c.2482G>A | VOUS | 08/21/2019 | ||
342 | CFTR | Ex14 | NM_000492.3:c.2490+5G>T | LRG_663t1:c.2490+5G>T, NM_000492.3:c.2490+5G>T | VOUS | 06/17/2016 | |||
343 | CFTR | Ex15 | NM_000492.3:c.2506G>T | p.Asp836Tyr | p.D836Y | LRG_663t1:c.2506G>T, NM_000492.3:c.2506G>T | VOUS | 01/28/2021 | ||
344 | CFTR | Ex15 | NM_000492.3:c.2531C>T | p.Thr844Ile | p.T844I | LRG_663t1:c.2531C>T, NM_000492.3:c.2531C>T | VOUS | 12/14/2020 | ||
345 | CFTR | Ex15 | NM_000492.3:c.2537G>A | p.Trp846* | p.W846X | Pathogenic | ** | |||
346 | CFTR | Ex15 | NM_000492.3:c.2540A>G | p.Asn847Ser | p.N847S | LRG_663t1:c.2540A>G, NM_000492.3:c.2540A>G | VOUS | 01/07/2020 | ||
347 | CFTR | Ex15 | NM_000492.3:c.2544A>T | p.Thr848= | p.T848= | LRG_663t1:c.2544A>T, NM_000492.3:c.2544A>T | VOUS | 01/16/2017 | ||
348 | CFTR | Ex15 | NM_000492.3:c.2552G>A | p.Arg851Gln | p.R851Q | LRG_663t1:c.2552G>A, NM_000492.3:c.2552G>A | VOUS | 10/27/2020 | ||
349 | CFTR | Ex15 | NM_000492.3:c.2559T>C | p.Ile853= | p.I853= | LRG_663t1:c.2559T>C, NM_000492.3:c.2559T>C | VOUS | 01/15/2020 | ||
350 | CFTR | Ex15 | NM_000492.3:c.2561_2562delCTinsTG | p.Thr854Met | p.T854M | LRG_663t1:c.2561_2562delinsTG, NM_000492.3:c.2561_2562delinsTG | VOUS | 12/04/2018 | ||
351 | CFTR | Ex15 | NM_000492.3:c.2562T>G | p.Thr854= | p.T854= | LRG_663t1:c.2562T>G, NM_000492.3:c.2562T>G | Benign | 11/20/2018 | ||
352 | CFTR | Ex15 | NM_000492.3:c.2583delT | p.Phe861Leufs*3 | p.F861LfsX3 | LRG_663t1:c.2583delT, NM_000492.3:c.2583delT | Pathogenic | 10/30/2018 | ||
353 | CFTR | Ex15 | NM_000492.3:c.2597G>A | p.Cys866Tyr | p.C866Y | LRG_663t1:c.2597G>A, NM_000492.3:c.2597G>A | VOUS | 12/03/2019 | ||
354 | CFTR | Ex15 | NM_000492.3:c.2604A>G | p.Val868= | p.V868= | LRG_663t1:c.2604A>G, NM_000492.3:c.2604A>G | Likely benign | 06/30/2020 | ||
355 | CFTR | Ex15 | NM_000492.3:c.2619+1G>A | LRG_663t1:c.2619+1G>A, NM_000492.3:c.2619+1G>A | Pathogenic | 05/18/2017 | |||
356 | CFTR | Ex16 | NM_000492.3:c.2620-26A>G | LRG_663t1:c.2620-26A>G, NM_000492.3:c.2620-26A>G | Likely benign | 04/23/2019 | |||
357 | CFTR | Ex16 | NM_000492.3:c.2620-15C>G | LRG_663t1:c.2620-15C>G, NM_000492.3:c.2620-15C>G | Benign | 11/29/2016 | |||
358 | CFTR | Ex16 | NM_000492.3:c.2620-6T>C | LRG_663t1:c.2620-6T>C, NM_000492.3:c.2620-6T>C | VOUS | 06/09/2016 | |||
359 | CFTR | Ex16 | NM_000492.3:c.2627C>T | p.Ala876Val | p.A876V | LRG_663t1:c.2627C>T, NM_000492.3:c.2627C>T | VOUS | 04/09/2020 | ||
360 | CFTR | Ex16 | NM_000492.3:c.2657+2_2657+3insA | c.2789insA, LRG_663t1:c.2657+2_2657+3insA, NM_000492.3:c.2657+2_2657+3insA | Pathogenic | 12/11/2020 | |||
361 | CFTR | Ex16 | NM_000492.3:c.2657+5G>A | LRG_663t1:c.2657+5G>A, NM_000492.3:c.2657+5G>A | Pathogenic | 12/04/2019 | |||
362 | CFTR | Ex17 | NM_000492.3:c.2658-2A>G | LRG_663t1:c.2658-2A>G, NM_000492.3:c.2658-2A>G | Pathogenic | 10/17/2016 | |||
363 | CFTR | Ex17 | NM_000492.3:c.2659A>C | p.Thr887Pro | p.T887P | LRG_663t1:c.2659A>C, NM_000492.3:c.2659A>C | VOUS | 05/07/2019 | ||
364 | CFTR | Ex17 | NM_000492.3:c.2665C>T | p.Leu889Phe | p.L889F | LRG_663t1:c.2665C>T, NM_000492.3:c.2665C>T | VOUS | 06/27/2018 | ||
365 | CFTR | Ex17 | NM_000492.3:c.2672A>G | p.Asp891Gly | p.D891G | LRG_663t1:c.2672A>G, NM_000492.3:c.2672A>G | VOUS | 04/23/2020 | ||
366 | CFTR | Ex17 | NM_000492.3:c.2673C>G | p.Asp891Glu | p.D891E | LRG_663t1:c.2673C>G, NM_000492.3:c.2673C>G | VOUS | 12/05/2016 | ||
367 | CFTR | Ex17 | NM_000492.3:c.2684G>A | p.Ser895Asn | p.S895N | LRG_663t1:c.2684G>A, NM_000492.3:c.2684G>A | VOUS | 07/30/2020 | ||
368 | CFTR | Ex17 | NM_000492.3:c.2709T>C | p.Tyr903= | p.Y903= | LRG_663t1:c.2709T>C, NM_000492.3:c.2709T>C | VOUS | 05/16/2019 | ||
369 | CFTR | Ex17 | NM_000492.3:c.2723C>A | p.Thr908Asn | p.T908N | LRG_663t1:c.2723C>A, NM_000492.3:c.2723C>A | VOUS | 11/08/2019 | ||
370 | CFTR | Ex17 | NM_000492.3:c.2724C>T | p.Thr908= | p.T908= | LRG_663t1:c.2724C>T, NM_000492.3:c.2724C>T | VOUS | 12/21/2020 | ||
371 | CFTR | Ex17 | NM_000492.3:c.2732G>C | p.Ser911Thr | p.S911T | VOUS | 01/13/2020 | |||
372 | CFTR | Ex17 | NM_000492.3:c.2735C>T | p.Ser912Leu | p.S912L | LRG_663t1:c.2735C>T, NM_000492.3:c.2735C>T | VOUS | 03/21/2019 | ||
373 | CFTR | Ex17 | NM_000492.3:c.2736G>A | p.Ser912= | p.S912= | LRG_663t1:c.2736G>A, NM_000492.3:c.2736G>A | VOUS | 01/02/2019 | ||
374 | CFTR | Ex17 | NM_000492.3:c.2736G>C | p.Ser912= | p.S912= | LRG_663t1:c.2736G>C, NM_000492.3:c.2736G>C | VOUS | 08/22/2017 | ||
375 | CFTR | Ex17 | NM_000492.3:c.2739T>A | p.Tyr913* | p.Y913X | NM_000492.3:c.2739T>A | Pathogenic | ** | ||
376 | CFTR | Ex17 | NM_000492.3:c.2756A>G | p.Tyr919Cys | p.Y919C | LRG_663t1:c.2756A>G, NM_000492.3:c.2756A>G | VOUS | 07/06/2018 | ||
377 | CFTR | Ex17 | NM_000492.3:c.2757C>T | p.Tyr919= | p.Y919= | LRG_663t1:c.2757C>T, NM_000492.3:c.2757C>T | VOUS | 11/02/2018 | ||
378 | CFTR | Ex17 | NM_000492.3:c.2758G>A | p.Val920Met | p.V920M | LRG_663t1:c.2758G>A, NM_000492.3:c.2758G>A | VOUS | 01/08/2018 | ||
379 | CFTR | Ex17 | NM_000492.3:c.2758G>T | p.Val920Leu | p.V920L | LRG_663t1:c.2758G>T, NM_000492.3:c.2758G>T | VOUS | 03/13/2017 | ||
380 | CFTR | Ex17 | NM_000492.3:c.2769C>T | p.Ala923= | p.A923= | LRG_663t1:c.2769C>T, NM_000492.3:c.2769C>T | VOUS | 04/14/2017 | ||
381 | CFTR | Ex17 | NM_000492.3:c.2770G>A | p.Asp924Asn | p.D924N | LRG_663t1:c.2770G>A, NM_000492.3:c.2770G>A | VOUS | 12/05/2016 | ||
382 | CFTR | Ex17 | NM_000492.3:c.2772C>A | p.Asp924Glu | p.D924E | LRG_663t1:c.2772C>A, NM_000492.3:c.2772C>A | VOUS | 11/29/2017 | ||
383 | CFTR | Ex17 | NM_000492.3:c.2797A>G | p.Arg933Gly | p.R933G | LRG_663t1:c.2797A>G, NM_000492.3:c.2797A>G | VOUS | 06/08/2017 | ||
384 | CFTR | Ex17 | NM_000492.3:c.2805A>G | p.Leu935= | p.L935= | LRG_663t1:c.2805A>G, NM_000492.3:c.2805A>G | VOUS | 08/29/2019 | ||
385 | CFTR | Ex17 | NM_000492.3:c.2813T>G | p.Val938Gly | p.V938G | LRG_663t1:c.2813T>G, NM_000492.3:c.2813T>G | VOUS | 10/19/2017 | ||
386 | CFTR | Ex17 | NM_000492.3:c.2820T>G | p.Thr940= | p.T940= | LRG_663t1:c.2820T>G, NM_000492.3:c.2820T>G | Likely benign | 12/15/2016 | ||
387 | CFTR | Ex17 | NM_000492.3:c.2822delT | p.Leu941Glnfs*27 | p.L941QfsX27 | LRG_663t1:c.2822delT, NM_000492.3:c.2822delT | Pathogenic | 10/25/2018 | ||
388 | CFTR | Ex17 | NM_000492.3:c.2832G>A | p.Val944= | p.V944= | LRG_663t1:c.2832G>A, NM_000492.3:c.2832G>A | VOUS | 12/11/2019 | ||
389 | CFTR | Ex17 | NM_000492.3:c.2834C>T | p.Ser945Leu | p.S945L | LRG_663t1:c.2834C>T, NM_000492.3:c.2834C>T | Pathogenic | 04/13/2015 | ||
390 | CFTR | Ex17 | NM_000492.3:c.2855T>C | p.Met952Thr | p.M952T | LRG_663t1:c.2855T>C, NM_000492.3:c.2855T>C | VOUS | 10/07/2016 | ||
391 | CFTR | Ex17 | NM_000492.3:c.2856G>C | p.Met952Ile | p.M952I | LRG_663t1:c.2856G>C, NM_000492.3:c.2856G>C | Likely pathogenic | 01/12/2021 | ||
392 | CFTR | Ex17 | NM_000492.3:c.2856G>A | p.Met952Ile | p.M952I | LRG_663t1:c.2856G>A, NM_000492.3:c.2856G>A | VOUS | 05/17/2018 | ||
393 | CFTR | Ex17 | NM_000492.3:c.2882T>C | p.Met961Thr | p.M961T | LRG_663t1:c.2882T>C, NM_000492.3:c.2882T>C | VOUS | 03/28/2017 | ||
394 | CFTR | Ex17 | NM_000492.3:c.2895C>A | p.Asn965Lys | p.N965K | LRG_663t1:c.2895C>A, NM_000492.3:c.2895C>A | VOUS | 01/22/2020 | ||
395 | CFTR | Ex17 | NM_000492.3:c.2898G>A | p.Thr966= | p.T966= | LRG_663t1:c.2898G>A, NM_000492.3:c.2898G>A | Benign | 10/12/2017 | ||
396 | CFTR | Ex17 | NM_000492.3:c.2900T>C | p.Leu967Ser | p.L967S | LRG_663t1:c.2900T>C, NM_000492.3:c.2900T>C | VOUS | 12/03/2020 | ||
397 | CFTR | Ex17 | NM_000492.3:c.2908+4C>A | LRG_663t1:c.2908+4C>A, NM_000492.3:c.2908+4C>A | VOUS | 04/12/2018 | |||
398 | CFTR | Ex17 | NM_000492.3:c.2908+19G>C | VOUS | ** | ||||
399 | CFTR | Ex18 | NM_000492.3:c.2909-4A>G | LRG_663t1:c.2909-4A>G, NM_000492.3:c.2909-4A>G | VOUS | 11/23/2016 | |||
400 | CFTR | Ex18 | NM_000492.3:c.2909_2924dupGTGGGATTCTTAATAG | p.Phe976Trpfs*4 | p.F976WfsX4 | LRG_663t1:c.2909_2924dupGTGGGATTCTTAATAG, NM_000492.3:c.2909_2924dupGTGGGATTCTTAATAG | Pathogenic | 11/05/2019 | ||
401 | CFTR | Ex18 | NM_000492.3:c.2946T>G | p.Ile982Met | p.I982M | LRG_663t1:c.2946T>G, NM_000492.3:c.2946T>G | VOUS | 07/22/2019 | ||
402 | CFTR | Ex18 | NM_000492.3:c.2981T>G | p.Phe994Cys | p.F994C | LRG_663t1:c.2981T>G, NM_000492.3:c.2981T>G | VOUS | 08/09/2018 | ||
403 | CFTR | Ex18 | NM_000492.3:c.2988G>A | p.Gln996= | p.Q996= | LRG_663t1:c.2988G>A, NM_000492.3:c.2988G>A | Pathogenic | 06/15/2017 | ||
404 | CFTR | Ex18 | NM_000492.3:c.2988+1G>A | 3120+1 G>A, LRG_663t1:c.2988+1G>A, NM_000492.3:c.2988+1G>A | Pathogenic | 02/08/2021 | |||
405 | CFTR | Ex19 | NM_000492.3:c.2991G>C | p.Leu997Phe | p.L997F | LRG_663t1:c.2991G>C, NM_000492.3:c.2991G>C | VOUS | 10/09/2020 | ||
406 | CFTR | Ex19 | NM_000492.3:c.2998A>T | p.Ile1000Phe | p.I1000F | LRG_663t1:c.2998A>T, NM_000492.3:c.2998A>T | VOUS | 12/11/2018 | ||
407 | CFTR | Ex19 | NM_000492.3:c.3001G>A | p.Val1001Met | p.V1001M | LRG_663t1:c.3001G>A, NM_000492.3:c.3001G>A | VOUS | 09/06/2018 | ||
408 | CFTR | Ex19 | NM_000492.3:c.3024C>T | p.Val1008= | p.V1008= | NM_000492.3:c.3024C>T | VOUS | 02/12/2015 | ||
409 | CFTR | Ex19 | NM_000492.3:c.3025G>A | p.Ala1009Thr | p.A1009T | LRG_663t1:c.3025G>A, NM_000492.3:c.3025G>A | VOUS | 10/22/2019 | ||
410 | CFTR | Ex19 | NM_000492.3:c.3036A>G | p.Gln1012= | p.Q1012= | LRG_663t1:c.3036A>G, NM_000492.3:c.3036A>G | VOUS | 09/19/2019 | ||
411 | CFTR | Ex19 | NM_000492.3:c.3038C>T | p.Pro1013Leu | p.P1013L | LRG_663t1:c.3038C>T, NM_000492.3:c.3038C>T | VOUS | 12/26/2019 | ||
412 | CFTR | Ex19 | NM_000492.3:c.3038C>A | p.Pro1013His | p.P1013H | LRG_663t1:c.3038C>A, NM_000492.3:c.3038C>A | VOUS | 08/27/2020 | ||
413 | CFTR | Ex19 | NM_000492.3:c.3041A>G | p.Tyr1014Cys | p.Y1014C | LRG_663t1:c.3041A>G, NM_000492.3:c.3041A>G | VOUS | 02/24/2021 | ||
414 | CFTR | Ex19 | NM_000492.3:c.3062C>T | p.Pro1021Leu | p.P1021L | LRG_663t1:c.3062C>T, NM_000492.3:c.3062C>T | VOUS | 12/01/2020 | ||
415 | CFTR | Ex19 | NM_000492.3:c.3067_3072delATAGTG | p.Ile1023_Val1024del | p.I1023_V1024del | LRG_663t1:c.3067_3072delATAGTG, NM_000492.3:c.3067_3072delATAGTG | Pathogenic | 04/03/2020 | ||
416 | CFTR | Ex19 | NM_000492.3:c.3073G>T | p.Ala1025Ser | p.A1025S | LRG_663t1:c.3073G>T, NM_000492.3:c.3073G>T | VOUS | 12/13/2018 | ||
417 | CFTR | Ex19 | NM_000492.3:c.3080T>C | p.Ile1027Thr | p.I1027T | LRG_663t1:c.3080T>C, NM_000492.3:c.3080T>C | Benign | 12/18/2012 | ||
418 | CFTR | Ex19 | NM_000492.3:c.3083T>G | p.Met1028Arg | p.M1028R | LRG_663t1:c.3083T>G, NM_000492.3:c.3083T>G | VOUS | 08/27/2019 | ||
419 | CFTR | Ex19 | NM_000492.3:c.3095A>G | p.Tyr1032Cys | p.Y1032C | LRG_663t1:c.3095A>G, NM_000492.3:c.3095A>G | Likely pathogenic | 06/11/2018 | ||
420 | CFTR | Ex19 | NM_000492.3:c.3100C>T | p.Leu1034Phe | p.L1034F | LRG_663t1:c.3100C>T, NM_000492.3:c.3100C>T | VOUS | 03/08/2017 | ||
421 | CFTR | Ex19 | NM_000492.3:c.3121A>C | p.Lys1041Gln | p.K1041Q | LRG_663t1:c.3121A>C, NM_000492.3:c.3121A>C | VOUS | 11/14/2019 | ||
422 | CFTR | Ex19 | NM_000492.3:c.3139G>T | p.Gly1047Cys | p.G1047C | LRG_663t1:c.3139G>T, NM_000492.3:c.3139G>T | VOUS | 10/02/2015 | ||
423 | CFTR | Ex19 | NM_000492.3:c.3139delG | Pathogenic | ** | ||||
424 | CFTR | Ex19 | NM_000492.3:c.3139+1delG | Pathogenic | ** | ||||
425 | CFTR | Ex19 | NM_000492.3:c.3139+8A>G | LRG_663t1:c.3139+8A>G, NM_000492.3:c.3139+8A>G | VOUS | 10/01/2018 | |||
426 | CFTR | Ex19 | NM_000492.3:c.3139+18C>T | VOUS | ** | ||||
427 | CFTR | Ex19 | NM_000492.3:c.3139+42A>T | Benign | ** | ||||
428 | CFTR | Ex20 | NM_000492.3:c.3140-26A>G | LRG_663t1:c.3140-26A>G, NM_000492.3:c.3140-26A>G | Pathogenic | 04/27/2017 | |||
429 | CFTR | Ex20 | NM_000492.3:c.3154T>G | p.Phe1052Val | p.F1052V | LRG_663t1:c.3154T>G, NM_000492.3:c.3154T>G | VOUS | 07/06/2020 | ||
430 | CFTR | Ex20 | NM_000492.3:c.3169A>G | p.Thr1057Ala | p.T1057A | LRG_663t1:c.3169A>G, NM_000492.3:c.3169A>G | VOUS | 08/06/2020 | ||
431 | CFTR | Ex20 | NM_000492.3:c.3177A>G | p.Leu1059= | p.L1059= | LRG_663t1:c.3177A>G, NM_000492.3:c.3177A>G | VOUS | 09/17/2019 | ||
432 | CFTR | Ex20 | NM_000492.3:c.3181G>C | p.Gly1061Arg | p.G1061R | LRG_663t1:c.3181G>C, NM_000492.3:c.3181G>C | Likely pathogenic | 03/02/2018 | ||
433 | CFTR | Ex20 | NM_000492.3:c.3194T>C | p.Leu1065Pro | p.L1065P | NM_000492.3:c.3194T>C | Pathogenic | 12/16/2015 | ||
434 | CFTR | Ex20 | NM_000492.3:c.3196C>T | p.Arg1066Cys | p.R1066C | LRG_663t1:c.3196C>T, NM_000492.3:c.3196C>T | Pathogenic | 06/30/2020 | ||
435 | CFTR | Ex20 | NM_000492.3:c.3197G>A | p.Arg1066His | p.R1066H | LRG_663t1:c.3197G>A, NM_000492.3:c.3197G>A | Pathogenic | 12/10/2018 | ||
436 | CFTR | Ex20 | NM_000492.3:c.3199G>A | p.Ala1067Thr | p.A1067T | NM_000492.3:c.3199G>A | VOUS | 04/16/2013 | ||
437 | CFTR | Ex20 | NM_000492.3:c.3200C>T | p.Ala1067Val | p.A1067V | NM_000492.3:c.3200C>T | VOUS | 02/11/2016 | ||
438 | CFTR | Ex20 | NM_000492.3:c.3204C>T | p.Phe1068= | p.F1068= | LRG_663t1:c.3204C>T, NM_000492.3:c.3204C>T | VOUS | 08/03/2020 | ||
439 | CFTR | Ex20 | NM_000492.3:c.3205G>A | p.Gly1069Arg | p.G1069R | LRG_663t1:c.3205G>A, NM_000492.3:c.3205G>A | VOUS | 08/27/2019 | ||
440 | CFTR | Ex20 | NM_000492.3:c.3208C>T | p.Arg1070Trp | p.R1070W | LRG_663t1:c.3208C>T, NM_000492.3:c.3208C>T | Likely pathogenic | 01/27/2021 | ||
441 | CFTR | Ex20 | NM_000492.3:c.3209G>A | p.Arg1070Gln | p.R1070Q | LRG_663t1:c.3209G>A, NM_000492.3:c.3209G>A | Pathogenic | 03/11/2020 | ||
442 | CFTR | Ex20 | NM_000492.3:c.3222T>A | p.Phe1074Leu | p.F1074L | LRG_663t1:c.3222T>A, NM_000492.3:c.3222T>A | Likely pathogenic | 05/23/2018 | ||
443 | CFTR | Ex20 | NM_000492.3:c.3256A>T | p.Thr1086Ser | p.T1086S | LRG_663t1:c.3256A>T, NM_000492.3:c.3256A>T | VOUS | 06/12/2017 | ||
444 | CFTR | Ex20 | NM_000492.3:c.3256A>G | p.Thr1086Ala | p.T1086A | LRG_663t1:c.3256A>G, NM_000492.3:c.3256A>G | VOUS | 03/12/2019 | ||
445 | CFTR | Ex20 | NM_000492.3:c.3273G>C | p.Leu1091Phe | p.L1091F | LRG_663t1:c.3273G>C, NM_000492.3:c.3273G>C | VOUS | 01/20/2020 | ||
446 | CFTR | Ex20 | NM_000492.3:c.3274T>C | p.Tyr1092His | p.Y1092H | LRG_663t1:c.3274T>C, NM_000492.3:c.3274T>C | VOUS | 01/22/2018 | ||
447 | CFTR | Ex20 | NM_000492.3:c.3275A>G | p.Tyr1092Cys | p.Y1092C | LRG_663t1:c.3275A>G, NM_000492.3:c.3275A>G | VOUS | 03/01/2017 | ||
448 | CFTR | Ex20 | NM_000492.3:c.3276C>A | p.Tyr1092* | p.Y1092X | LRG_663t1:c.3276C>A, NM_000492.3:c.3276C>A | Pathogenic | 08/14/2018 | ||
449 | CFTR | Ex20 | NM_000492.3:c.3285A>T | p.Thr1095= | p.T1095= | LRG_663t1:c.3285A>T, NM_000492.3:c.3285A>T | Benign | 12/21/2015 | ||
450 | CFTR | Ex20 | NM_000492.3:c.3289C>T | p.Arg1097Cys | p.R1097C | LRG_663t1:c.3289C>T, NM_000492.3:c.3289C>T | VOUS | 05/16/2019 | ||
451 | CFTR | Ex20 | NM_000492.3:c.3297C>A | p.Phe1099Leu | p.F1099L | LRG_663t1:c.3297C>A, NM_000492.3:c.3297C>A | VOUS | 04/08/2016 | ||
452 | CFTR | Ex20 | NM_000492.3:c.3302T>A | p.Met1101Lys | p.M1101K | LRG_663t1:c.3302T>A, NM_000492.3:c.3302T>A | Pathogenic | 08/09/2019 | ||
453 | CFTR | Ex20 | NM_000492.3:c.3303G>A | p.Met1101Ile | p.M1101I | LRG_663t1:c.3303G>A, NM_000492.3:c.3303G>A | VOUS | 09/24/2018 | ||
454 | CFTR | Ex20 | NM_000492.3:c.3306A>G | p.Arg1102= | p.R1102= | LRG_663t1:c.3306A>G, NM_000492.3:c.3306A>G | VOUS | 08/13/2019 | ||
455 | CFTR | Ex20 | NM_000492.3:c.3322G>C | p.Val1108Leu | p.V1108L | LRG_663t1:c.3322G>C, NM_000492.3:c.3322G>C | VOUS | 08/06/2020 | ||
456 | CFTR | Ex20 | NM_000492.3:c.3367+45T>C | NM_000492.3:c.3367+45T>C | VOUS | ** | |||
457 | CFTR | Ex21 | NM_000492.3:c.3368-4A>G | LRG_663t1:c.3368-4A>G, NM_000492.3:c.3368-4A>G | VOUS | 07/07/2017 | |||
458 | CFTR | Ex21 | NM_000492.3:c.3382A>G | p.Arg1128Gly | p.R1128G | LRG_663t1:c.3382A>G, NM_000492.3:c.3382A>G | VOUS | 07/28/2016 | ||
459 | CFTR | Ex21 | NM_000492.3:c.3407C>T | p.Ala1136Val | p.A1136V | LRG_663t1:c.3407C>T, NM_000492.3:c.3407C>T | VOUS | 02/02/2018 | ||
460 | CFTR | Ex21 | NM_000492.3:c.3409A>G | p.Met1137Val | p.M1137V | LRG_663t1:c.3409A>G, NM_000492.3:c.3409A>G | VOUS | 10/11/2019 | ||
461 | CFTR | Ex21 | NM_000492.3:c.3411G>C | p.Met1137Ile | p.M1137I | LRG_663t1:c.3411G>C, NM_000492.3:c.3411G>C | VOUS | 12/23/2019 | ||
462 | CFTR | Ex21 | NM_000492.3:c.3415A>G | p.Ile1139Val | p.I1139V | LRG_663t1:c.3415A>G, NM_000492.3:c.3415A>G | VOUS | 07/30/2020 | ||
463 | CFTR | Ex21 | NM_000492.3:c.3420G>A | p.Met1140Ile | p.M1140I | LRG_663t1:c.3420G>A, NM_000492.3:c.3420G>A | VOUS | 03/07/2019 | ||
464 | CFTR | Ex21 | NM_000492.3:c.3429G>A | p.Leu1143= | p.L1143= | LRG_663t1:c.3429G>A, NM_000492.3:c.3429G>A | VOUS | 03/25/2020 | ||
465 | CFTR | Ex21 | NM_000492.3:c.3454G>C | p.Asp1152His | p.D1152H | LRG_663t1:c.3454G>C, NM_000492.3:c.3454G>C | Pathogenic | 01/15/2021 | ||
466 | CFTR | Ex21 | NM_000492.3:c.3468G>A | p.Leu1156= | p.L1156= | LRG_663t1:c.3468G>A | VOUS | 12/11/2014 | ||
467 | CFTR | Ex21 | NM_000492.3:c.3468G>T | p.Leu1156Phe | p.L1156F | LRG_663t1:c.3468G>T, NM_000492.3:c.3468G>T | VOUS | 12/31/2020 | ||
468 | CFTR | Ex21 | NM_000492.3:c.3468+2dupT | LRG_663t1:c.3468+2_3468+3insT, LRG_663t1:c.3468+2dupT, NM_000492.3:c.3468+2_3468+3insT, NM_000492.3:c.3468+2dupT | Likely pathogenic | 12/27/2016 | |||
469 | CFTR | Ex21 | NM_000492.3:c.3468+10A>G | VOUS | 12/08/2020 | ||||
470 | CFTR | Ex22 | NM_000492.3:c.3469-20T>C | LRG_663t1:c.3469-20T>C, NM_000492.3:c.3469-20T>C | Benign | 03/29/2019 | |||
471 | CFTR | Ex22 | NM_000492.3:c.3469-17T>C | LRG_663t1:c.3469-17T>C, NM_000492.3:c.3469-17T>C | VOUS | 05/29/2020 | |||
472 | CFTR | Ex22 | NM_000492.3:c.3472C>T | p.Arg1158* | p.R1158X | LRG_663t1:c.3472C>T, NM_000492.3:c.3472C>T | Pathogenic | 10/29/2018 | ||
473 | CFTR | Ex22 | NM_000492.3:c.3484C>T | p.Arg1162* | p.R1162X | LRG_663t1:c.3484C>T, NM_000492.3:c.3484C>T | Pathogenic | 10/27/2020 | ||
474 | CFTR | Ex22 | NM_000492.3:c.3485G>T | p.Arg1162Leu | p.R1162L | LRG_663t1:c.3485G>T, NM_000492.3:c.3485G>T | VOUS | 10/20/2020 | ||
475 | CFTR | Ex22 | NM_000492.3:c.3485G>A | p.Arg1162Gln | p.R1162Q | LRG_663t1:c.3485G>A, NM_000492.3:c.3485G>A | VOUS | 04/03/2018 | ||
476 | CFTR | Ex22 | NM_000492.3:c.3503A>G | p.Asp1168Gly | p.D1168G | LRG_663t1:c.3503A>G, NM_000492.3:c.3503A>G | VOUS | 05/30/2017 | ||
477 | CFTR | Ex22 | NM_000492.3:c.3508C>T | p.Pro1170Ser | p.P1170S | LRG_663t1:c.3508C>T, NM_000492.3:c.3508C>T | VOUS | 10/11/2018 | ||
478 | CFTR | Ex22 | NM_000492.3:c.3517G>A | p.Gly1173Ser | p.G1173S | LRG_663t1:c.3517G>A, NM_000492.3:c.3517G>A | VOUS | 02/15/2021 | ||
479 | CFTR | Ex22 | NM_000492.3:c.3528delC | p.Lys1177Serfs*15 | p.K1177SfsX15 | LRG_663t1:c.3528delC, NM_000492.3:c.3528delC | Pathogenic | 04/29/2020 | ||
480 | CFTR | Ex22 | NM_000492.3:c.3558A>G | p.Gln1186= | p.Q1186= | LRG_663t1:c.3558A>G, NM_000492.3:c.3558A>G | VOUS | 05/20/2020 | ||
481 | CFTR | Ex22 | NM_000492.3:c.3564G>A | p.Ser1188= | p.S1188= | LRG_663t1:c.3564G>A, NM_000492.3:c.3564G>A | VOUS | 06/20/2013 | ||
482 | CFTR | Ex22 | NM_000492.3:c.3588A>T | p.Ser1196= | p.S1196= | LRG_663t1:c.3588A>T, NM_000492.3:c.3588A>T | VOUS | 08/30/2018 | ||
483 | CFTR | Ex22 | NM_000492.3:c.3607A>G | p.Ile1203Val | p.I1203V | NM_000492.3:c.3607A>G | VOUS | 01/23/2014 | ||
484 | CFTR | Ex22 | NM_000492.3:c.3612G>A | p.Trp1204* | p.W1204X | LRG_663t1:c.3612G>A, NM_000492.3:c.3612G>A | Pathogenic | 01/03/2013 | ||
485 | CFTR | Ex22 | NM_000492.3:c.3627A>G | p.Gln1209= | p.Q1209= | LRG_663t1:c.3627A>G, NM_000492.3:c.3627A>G | VOUS | 11/09/2020 | ||
486 | CFTR | Ex22 | NM_000492.3:c.3650C>T | p.Ala1217Val | p.A1217V | LRG_663t1:c.3650C>T, NM_000492.3:c.3650C>T | VOUS | 10/20/2020 | ||
487 | CFTR | Ex22 | NM_000492.3:c.3659C>T | p.Thr1220Ile | p.T1220I | LRG_663t1:c.3659C>T, NM_000492.3:c.3659C>T | VOUS | 03/11/2020 | ||
488 | CFTR | Ex22 | NM_000492.3:c.3665G>A | p.Gly1222Asp | p.G1222D | LRG_663t1:c.3665G>A, NM_000492.3:c.3665G>A | VOUS | 09/05/2017 | ||
489 | CFTR | Ex22 | NM_000492.3:c.3682G>C | p.Glu1228Gln | p.E1228Q | LRG_663t1:c.3682G>C, NM_000492.3:c.3682G>C | VOUS | 05/29/2019 | ||
490 | CFTR | Ex22 | NM_000492.3:c.3705T>G | p.Ser1235Arg | p.S1235R | LRG_663t1:c.3705T>G, NM_000492.3:c.3705T>G | Benign | 07/24/2012 | ||
491 | CFTR | Ex22 | NM_000492.3:c.3710G>A | p.Gly1237Asp | p.G1237D | LRG_663t1:c.3710G>A, NM_000492.3:c.3710G>A | VOUS | 09/17/2018 | ||
492 | CFTR | Ex22 | NM_000492.3:c.3713A>G | p.Gln1238Arg | p.Q1238R | LRG_663t1:c.3713A>G, NM_000492.3:c.3713A>G | VOUS | 07/31/2019 | ||
493 | CFTR | Ex22 | NM_000492.3:c.3717+40A>G | LRG_663t1:c.3717+40A>G, NM_000492.3:c.3717+40A>G | Likely pathogenic | 08/31/2017 | |||
494 | CFTR | Ex22 | NM_000492.3:c.3717+45G>A | LRG_663t1:c.3717+45G>A, NM_000492.3:c.3717+45G>A | Benign | 03/14/2019 | |||
495 | CFTR | Ex22 | NM_000492.3:c.3717+12191C>T | 3849+10kb C>T, LRG_663t1:c.3718-2477C>T, NM_000492.3:c.3718-2477C>T | Pathogenic | 12/03/2020 | |||
496 | CFTR | Ex23 | NM_000492.3:c.3718-2530A>G | LRG_663t1:c.3718-2530A>G, NM_000492.3:c.3718-2530A>G | Benign | 10/26/2016 | |||
497 | CFTR | Ex23 | NM_000492.3:c.3718-2477C>T | LRG_663t1:c.3718-2477C>T, NM_000492.3:c.3718-2477C>T | Pathogenic | 05/08/2017 | |||
498 | CFTR | Ex23 | NM_000492.3:c.3718-24G>A | LRG_663t1:c.3718-24G>A, NM_000492.3:c.3718-24G>A | VOUS | 12/21/2020 | |||
499 | CFTR | Ex23 | NM_000492.3:c.3723C>A | p.Gly1241= | p.G1241= | LRG_663t1:c.3723C>A, NM_000492.3:c.3723C>A | VOUS | 02/27/2020 | ||
500 | CFTR | Ex23 | NM_000492.3:c.3744delA | p.Lys1250Argfs*9 | p.K1250RfsX9 | LRG_663t1:c.3744delA, NM_000492.3:c.3744delA | Pathogenic | 10/02/2018 | ||
501 | CFTR | Ex23 | NM_000492.3:c.3747G>A | p.Gly1249= | p.G1249= | LRG_663t1:c.3747G>A, NM_000492.3:c.3747G>A | VOUS | 01/15/2015 | ||
502 | CFTR | Ex23 | NM_000492.3:c.3759delG | p.Leu1253Phefs*6 | p.L1253FfsX6 | LRG_663t1:c.3759delG, NM_000492.3:c.3759delG | Pathogenic | 12/30/2020 | ||
503 | CFTR | Ex23 | NM_000492.3:c.3761T>G | p.Leu1254* | p.L1254X | Pathogenic | ** | |||
504 | CFTR | Ex23 | NM_000492.3:c.3762A>G | p.Leu1254= | p.L1254= | LRG_663t1:c.3762A>G, NM_000492.3:c.3762A>G | VOUS | 06/19/2019 | ||
505 | CFTR | Ex23 | NM_000492.3:c.3764C>A | p.Ser1255* | p.S1255X | Pathogenic | ** | |||
506 | CFTR | Ex23 | NM_000492.3:c.3772T>C | p.Leu1258= | p.L1258= | LRG_663t1:c.3772T>C, NM_000492.3:c.3772T>C | VOUS | 06/26/2017 | ||
507 | CFTR | Ex23 | NM_000492.3:c.3794G>T | p.Gly1265Val | p.G1265V | LRG_663t1:c.3794G>T, NM_000492.3:c.3794G>T | VOUS | 06/08/2017 | ||
508 | CFTR | Ex23 | NM_000492.3:c.3808G>A | p.Asp1270Asn | p.D1270N | LRG_663t1:c.3808G>A, NM_000492.3:c.3808G>A | VOUS | 12/22/2020 | ||
509 | CFTR | Ex23 | NM_000492.3:c.3811G>A | p.Gly1271Ser | p.G1271S | VOUS | 12/26/2019 | |||
510 | CFTR | Ex23 | NM_000492.3:c.3815T>A | p.Val1272Glu | p.V1272E | NM_000492.3:c.3815T>A | VOUS | 04/23/2015 | ||
511 | CFTR | Ex23 | NM_000492.3:c.3836T>C | p.Leu1279Ser | p.L1279S | LRG_663t1:c.3836T>C, NM_000492.3:c.3836T>C | VOUS | 04/04/2018 | ||
512 | CFTR | Ex23 | NM_000492.3:c.3844T>C | p.Trp1282Arg | p.W1282R | LRG_663t1:c.3844T>C, NM_000492.3:c.3844T>C | Pathogenic | 07/02/2020 | ||
513 | CFTR | Ex23 | NM_000492.3:c.3846G>A | p.Trp1282* | p.W1282X | LRG_663t1:c.3846G>A, NM_000492.3:c.3846G>A | Pathogenic | 12/05/2019 | ||
514 | CFTR | Ex23 | NM_000492.3:c.3846G>C | p.Trp1282Cys | p.W1282C | LRG_663t1:c.3846G>C, NM_000492.3:c.3846G>C | VOUS | 08/15/2018 | ||
515 | CFTR | Ex23 | NM_000492.3:c.3852A>G | p.Lys1284= | p.K1284= | LRG_663t1:c.3852A>G, NM_000492.3:c.3852A>G | VOUS | 10/19/2017 | ||
516 | CFTR | Ex23 | NM_000492.3:c.3853G>A | p.Ala1285Thr | p.A1285T | LRG_663t1:c.3853G>A, NM_000492.3:c.3853G>A | VOUS | 10/10/2017 | ||
517 | CFTR | Ex23 | NM_000492.3:c.3854C>T | p.Ala1285Val | p.A1285V | LRG_663t1:c.3854C>T, NM_000492.3:c.3854C>T | VOUS | 02/01/2021 | ||
518 | CFTR | Ex23 | NM_000492.3:c.3870A>G | p.Pro1290= | p.P1290= | LRG_663t1:c.3870A>G, NM_000492.3:c.3870A>G | Benign | 11/01/2018 | ||
519 | CFTR | Ex23 | NM_000492.3:c.3873+7A>T | LRG_663t1:c.3873+7A>T, NM_000492.3:c.3873+7A>T | VOUS | 09/20/2017 | |||
520 | CFTR | Ex24 | NM_000492.3:c.3874-4522A>G | LRG_663t1:c.3874-4522A>G, NM_000492.3:c.3874-4522A>G | Likely pathogenic | 08/26/2019 | |||
521 | CFTR | Ex24 | NM_000492.3:c.3874-21_3874-15dupTTCTTTT | LRG_663t1:c.3874-15_3874-14insTTCTTTT, LRG_663t1:c.3874-21_3874-15dupTTCTTTT, LRG_663t1:c.3874-21_3874-15insTTCTTTT, NM_000492.3:c.3874-15_3874-14insTTCTTTT, NM_000492.3:c.3874-21_3874-15dupTTCTTTT, NM_000492.3:c.3874-21_3874-15insTTCTTTT | VOUS | 02/22/2017 | |||
522 | CFTR | Ex24 | NM_000492.3:c.3874-14_3874-10delCTTTT | LRG_663t1:c.3874-14_3874-10delCTTTT, NM_000492.3:c.3874-14_3874-10delCTTTT | Likely benign | 11/27/2018 | |||
523 | CFTR | Ex24 | NM_000492.3:c.3874-14C>G | VOUS | 12/10/2019 | ||||
524 | CFTR | Ex24 | NM_000492.3:c.3877G>A | p.Val1293Ile | p.V1293I | LRG_663t1:c.3877G>A, NM_000492.3:c.3877G>A | VOUS | 01/13/2021 | ||
525 | CFTR | Ex24 | NM_000492.3:c.3893G>T | p.Gly1298Val | p.G1298V | LRG_663t1:c.3893G>T, NM_000492.3:c.3893G>T | VOUS | 10/13/2017 | ||
526 | CFTR | Ex24 | NM_000492.3:c.3895A>G | p.Thr1299Ala | p.T1299A | LRG_663t1:c.3895A>G, NM_000492.3:c.3895A>G | VOUS | 09/06/2018 | ||
527 | CFTR | Ex24 | NM_000492.3:c.3897A>G | p.Thr1299= | p.T1299= | LRG_663t1:c.3897A>G, NM_000492.3:c.3897A>G | Likely benign | 01/11/2017 | ||
528 | CFTR | Ex24 | NM_000492.3:c.3909C>G | p.Asn1303Lys | p.N1303K | LRG_663t1:c.3909C>G, NM_000492.3:c.3909C>G | Pathogenic | 12/18/2020 | ||
529 | CFTR | Ex24 | NM_000492.3:c.3918C>G | p.Pro1306= | p.P1306= | LRG_663t1:c.3918C>G, NM_000492.3:c.3918C>G | VOUS | 09/15/2020 | ||
530 | CFTR | Ex24 | NM_000492.3:c.3925C>G | p.Gln1309Glu | p.Q1309E | LRG_663t1:c.3925C>G, NM_000492.3:c.3925C>G | VOUS | 06/04/2020 | ||
531 | CFTR | Ex24 | NM_000492.3:c.3933T>G | p.Ser1311Arg | p.S1311R | LRG_663t1:c.3933T>G, NM_000492.3:c.3933T>G | VOUS | 09/27/2016 | ||
532 | CFTR | Ex24 | NM_000492.3:c.3963+6G>T | VOUS | 01/21/2020 | ||||
533 | CFTR | Ex25 | NM_000492.3:c.3964-16T>C | NM_000492.3:c.3964-16T>C | VOUS | 08/25/2014 | |||
534 | CFTR | Ex25 | NM_000492.3:c.3983T>C | p.Ile1328Thr | p.I1328T | LRG_663t1:c.3983T>C, NM_000492.3:c.3983T>C | VOUS | 04/09/2019 | ||
535 | CFTR | Ex25 | NM_000492.3:c.3999delG | NM_000492.3:c.3999delG | Pathogenic | 09/04/2015 | |||
536 | CFTR | Ex25 | NM_000492.3:c.4015C>T | p.Leu1339Phe | p.L1339F | LRG_663t1:c.4015C>T, NM_000492.3:c.4015C>T | VOUS | 03/04/2021 | ||
537 | CFTR | Ex25 | NM_000492.3:c.4036C>T | p.Leu1346= | p.L1346= | LRG_663t1:c.4036C>T, NM_000492.3:c.4036C>T | VOUS | 11/15/2017 | ||
538 | CFTR | Ex25 | NM_000492.3:c.4045G>A | p.Gly1349Ser | p.G1349S | LRG_663t1:c.4045G>A, NM_000492.3:c.4045G>A | VOUS | 06/27/2017 | ||
539 | CFTR | Ex25 | NM_000492.3:c.4053_4054delGCinsAG | p.Gln1352Glu | p.Q1352E | LRG_663t1:c.4053_4054delinsAG, NM_000492.3:c.4053_4054delinsAG | VOUS | 09/21/2018 | ||
540 | CFTR | Ex25 | NM_000492.3:c.4056G>C | p.Gln1352His | p.Q1352H | LRG_663t1:c.4056G>C, NM_000492.3:c.4056G>C | VOUS | 10/02/2020 | ||
541 | CFTR | Ex25 | NM_000492.3:c.4058delT | p.Leu1353* | p.L1353X | LRG_663t1:c.4058delT, NM_000492.3:c.4058delT | Pathogenic | 02/23/2018 | ||
542 | CFTR | Ex25 | NM_000492.3:c.4077_4080delTGTTinsAA | p.Val1360Thrfs*3 | p.V1360TfsX3 | LRG_663t1:c.4077_4080delinsAA, NM_000492.3:c.4077_4080delinsAA | Pathogenic | ** | ||
543 | CFTR | Ex25 | NM_000492.3:c.4092G>A | p.Ala1364= | p.A1364= | LRG_663t1:c.4092G>A, NM_000492.3:c.4092G>A | VOUS | 07/12/2019 | ||
544 | CFTR | Ex25 | NM_000492.3:c.4097T>C | p.Ile1366Thr | p.I1366T | LRG_663t1:c.4097T>C, NM_000492.3:c.4097T>C | VOUS | 06/02/2020 | ||
545 | CFTR | Ex25 | NM_000492.3:c.4121C>G | p.Ala1374Gly | p.A1374G | LRG_663t1:c.4121C>G, NM_000492.3:c.4121C>G | VOUS | 02/17/2017 | ||
546 | CFTR | Ex25 | NM_000492.3:c.4123C>A | p.His1375Asn | p.H1375N | LRG_663t1:c.4123C>A, NM_000492.3:c.4123C>A | VOUS | 01/25/2021 | ||
547 | CFTR | Ex25 | NM_000492.3:c.4129G>C | p.Asp1377His | p.D1377H | LRG_663t1:c.4129G>C, NM_000492.3:c.4129G>C | VOUS | 06/23/2016 | ||
548 | CFTR | Ex26 | NM_000492.3:c.4159A>G | p.Thr1387Ala | p.T1387A | LRG_663t1:c.4159A>G, NM_000492.3:c.4159A>G | VOUS | 12/21/2017 | ||
549 | CFTR | Ex26 | NM_000492.3:c.4195C>G | p.Leu1399Val | p.L1399V | LRG_663t1:c.4195C>G, NM_000492.3:c.4195C>G | VOUS | 05/11/2018 | ||
550 | CFTR | Ex26 | NM_000492.3:c.4197_4198delCT | p.Cys1400* | p.C1400X | LRG_663t1:c.4197_4198delCT, NM_000492.3:c.4197_4198delCT | Pathogenic | 06/05/2020 | ||
551 | CFTR | Ex26 | NM_000492.3:c.4197C>G | p.Leu1399= | p.L1399= | LRG_663t1:c.4197C>G, NM_000492.3:c.4197C>G | VOUS | 03/19/2020 | ||
552 | CFTR | Ex26 | NM_000492.3:c.4197C>T | p.Leu1399= | p.L1399= | LRG_663t1:c.4197C>T, NM_000492.3:c.4197C>T | VOUS | 09/30/2019 | ||
553 | CFTR | Ex26 | NM_000492.3:c.4209G>T | p.Arg1403Ser | p.R1403S | LRG_663t1:c.4209G>T, NM_000492.3:c.4209G>T | VOUS | 05/28/2020 | ||
554 | CFTR | Ex26 | NM_000492.3:c.4232A>C | p.Gln1411Pro | p.Q1411P | LRG_663t1:c.4232A>C, NM_000492.3:c.4232A>C | VOUS | 12/23/2019 | ||
555 | CFTR | Ex26 | NM_000492.3:c.4241T>C | p.Leu1414Ser | p.L1414S | LRG_663t1:c.4241T>C, NM_000492.3:c.4241T>C | VOUS | 02/01/2018 | ||
556 | CFTR | Ex26 | NM_000492.3:c.4242+10T>C | LRG_663t1:c.4242+10T>C, NM_000492.3:c.4242+10T>C | Benign | 05/24/2013 | |||
557 | CFTR | Ex26 | NM_000492.3:c.4242+13A>G | Benign | 04/29/2013 | ||||
558 | CFTR | Ex27 | NM_000492.3:c.*2G>A | LRG_663t1:c.*2G>A, NM_000492.3:c.*2G>A | VOUS | 04/16/2020 | |||
559 | CFTR | Ex27 | NM_000492.3:c.*10T>A | LRG_663t1:c.*10T>A, NM_000492.3:c.*10T>A | VOUS | 04/01/2020 | |||
560 | CFTR | Ex27 | NM_000492.3:c.*1043A>C | LRG_663t1:c.*1043A>C, NM_000492.3:c.*1043A>C | Benign | 03/28/2017 | |||
561 | CFTR | Ex27 | NM_000492.3:c.4243-20A>G | LRG_663t1:c.4243-20A>G, NM_000492.3:c.4243-20A>G | VOUS | 07/14/2020 | |||
562 | CFTR | Ex27 | NM_000492.3:c.4243-5C>T | LRG_663t1:c.4243-5C>T, NM_000492.3:c.4243-5C>T | Benign | 08/25/2015 | |||
563 | CFTR | Ex27 | NM_000492.3:c.4251delA | p.Glu1418Argfs*14 | p.E1418RfsX14 | LRG_663t1:c.4251delA, NM_000492.3:c.4251delA | Pathogenic | 10/26/2017 | ||
564 | CFTR | Ex27 | NM_000492.3:c.4252delG | p.Glu1418Argfs*14 | p.E1418RfsX14 | LRG_663t1:c.4252delG, NM_000492.3:c.4252delG | Pathogenic | 12/21/2018 | ||
565 | CFTR | Ex27 | NM_000492.3:c.4272C>T | p.Tyr1424= | p.Y1424= | LRG_663t1:c.4272C>T, NM_000492.3:c.4272C>T | Benign | 11/14/2017 | ||
566 | CFTR | Ex27 | NM_000492.3:c.4296C>T | p.Asn1432= | p.N1432= | LRG_663t1:c.4296C>T, NM_000492.3:c.4296C>T | VOUS | 02/07/2020 | ||
567 | CFTR | Ex27 | NM_000492.3:c.4322T>C | p.Ile1441Thr | p.I1441T | NM_000492.3:c.4322T>C | VOUS | 06/26/2015 | ||
568 | CFTR | Ex27 | NM_000492.3:c.4332C>T | p.Ser1444= | p.S1444= | LRG_663t1:c.4332C>T, NM_000492.3:c.4332C>T | VOUS | 05/09/2017 | ||
569 | CFTR | Ex27 | NM_000492.3:c.4333G>A | p.Asp1445Asn | p.D1445N | LRG_663t1:c.4333G>A, NM_000492.3:c.4333G>A | VOUS | 06/30/2020 | ||
570 | CFTR | Ex27 | NM_000492.3:c.4348T>A | p.Phe1450Ile | p.F1450I | LRG_663t1:c.4348T>A, NM_000492.3:c.4348T>A | VOUS | 09/17/2020 | ||
571 | CFTR | Ex27 | NM_000492.3:c.4357C>T | p.Arg1453Trp | p.R1453W | LRG_663t1:c.4357C>T, NM_000492.3:c.4357C>T | VOUS | 12/03/2019 | ||
572 | CFTR | Ex27 | NM_000492.3:c.4358G>A | p.Arg1453Gln | p.R1453Q | LRG_663t1:c.4358G>A, NM_000492.3:c.4358G>A | VOUS | 08/21/2019 | ||
573 | CFTR | Ex27 | NM_000492.3:c.4383G>T | p.Lys1461Asn | p.K1461N | LRG_663t1:c.4383G>T, NM_000492.3:c.4383G>T | VOUS | 12/20/2017 | ||
574 | CFTR | Ex27 | NM_000492.3:c.4387C>T | p.Gln1463* | p.Q1463X | LRG_663t1:c.4387C>T, NM_000492.3:c.4387C>T | VOUS | 08/15/2016 | ||
575 | CFTR | Ex27 | NM_000492.3:c.4389G>A | p.Gln1463= | p.Q1463= | LRG_663t1:c.4389G>A, NM_000492.3:c.4389G>A | Benign | 11/20/2018 | ||
576 | CFTR | Ex27 | NM_000492.3:c.4417G>A | p.Glu1473Lys | p.E1473K | LRG_663t1:c.4417G>A, NM_000492.3:c.4417G>A | VOUS | 05/05/2017 | ||
577 | CFTR | Ex27 | NM_000492.3:c.4426C>T | p.Gln1476* | p.Q1476X | LRG_663t1:c.4426C>T, NM_000492.3:c.4426C>T | Pathogenic | 05/15/2018 | ||
578 | CFTR | Ex27 | NM_000492.3:c.4427A>G | p.Gln1476Arg | p.Q1476R | LRG_663t1:c.4427A>G, NM_000492.3:c.4427A>G | VOUS | 01/30/2020 | ||
579 | CFTR | Ex27 | NM_000492.3:c.4436G>A | p.Arg1479Lys | p.R1479K | LRG_663t1:c.4436G>A, NM_000492.3:c.4436G>A | VOUS | 01/29/2021 |