SEARCH TIPS
- Search is case insensitive.
- Search term can consist of a whole word or part of a word e.g.
- Searching for "551" in the Protein Name field will retrieve all mutations that alter the protein at position 551.
- Searching for "del" in Mutation Names will retrieve all deletion mutations (but it may take awhile).
cDNA Name
|
Protein Name
|
Legacy Name
|
Region
|
Description
|
Consequence
|
c.79G>A
|
p.Gly27Arg
|
G27R
|
exon 2
|
G to A at 211
|
Gly to Arg at 27
|
c.79G>C
|
p.Gly27Arg
|
G27R(211G to C)
|
exon 2
|
G to C at 211
|
Gly to Arg at 27
|
c.79G>T
|
p.Gly27X
|
G27X
|
exon 2
|
G to T at 211
|
Gly to Stop at 27
|
c.80delG
|
p.Gly27AspfsX64
|
211delG
|
exon 2
|
deletion of G at 211
|
frameshift
|
c.80G>A
|
p.Gly27Glu
|
G27E
|
exon 2
|
G to A at 212
|
Gly to Glu at 27
|
c.254G>T
|
p.Gly85Val
|
G85V
|
exon 3
|
G to T at 386
|
Gly to Val at 85
|
c.254G>A
|
p.Gly85Glu
|
G85E
|
exon 3
|
G to A at 386
|
Gly to Glu at 85
|
c.271G>A
|
p.Gly91Arg
|
G91R
|
exon 3
|
G to A at 403
|
Gly to Arg at 91
|
c.307G>T
|
p.Gly103X
|
G103X
|
exon 4
|
G to T at 439
|
Gly to Stop at 103
|
c.370G>C
|
p.Gly124Arg
|
G124R
|
exon 4
|
502G>C
|
|
c.376G>A
|
p.Gly126Ser
|
|
exon 4
|
|
|
c.377G>A
|
p.Gly126Asp
|
G126D
|
exon 4
|
G to A at 509
|
Gly to Asp at 126
|
c.445G>A
|
p.Gly149Arg
|
G149R
|
exon 4
|
G to A at 577
|
Gly to Arg at 149
|
c.445G>T
|
p.Gly149X
|
|
exon 4
|
|
|
c.446G>T
|
p.Gly149Val
|
G149V
|
exon 4
|
G to T at 578
|
Gly to Val at 149
|
c.532G>A
|
p.Gly178Arg
|
G178R
|
exon 5
|
G to A at 664
|
Gly to Arg at 178
|
c.533G>A
|
p.Gly178Glu
|
G178E
|
exon 5
|
G to A at 665
|
Gly to Glu at 178
|
c.580G>A
|
p.Gly194Arg
|
G194R
|
exon 6
|
G to A at 712
|
Gly to Arg at 194
|
c.581G>T
|
p.Gly194Val
|
G194V
|
exon 6
|
G to T at 713
|
Gly to Val at 194
|
c.617T>G
|
p.Leu206Trp
|
L206W
|
exon 6
|
T to G at 749
|
Leu to Trp at 206
|
c.715G>A
|
p.Gly239Arg
|
G239R
|
exon 6
|
G to A at 847
|
Gly to Arg at 239
|
c.720_741delAGGGAGAATGATGATGAAGTAC
|
p.Gly241GlufsX13
|
852del22
|
exon 6
|
deletion of 22 bp from 852
|
frameshift
|
c.721G>A
|
p.Gly241Arg
|
G241R
|
exon 6
|
G to A at 853
|
Gly to Arg at 241
|
c.868C>T
|
p.Gln290X
|
Q290X
|
exon 7
|
C to T at 1000
|
Gln to Stop at 290
|
c.902A>G
|
p.Tyr301Cys
|
Y301C
|
exon 8
|
A to G at 1034
|
Tyr to Cys at 301
|
c.940G>C
|
p.Gly314Arg
|
G314R
|
exon 8
|
G to C at 1072
|
Gly to Arg at 314
|
c.941G>T
|
p.Gly314Val
|
G314V
|
exon 8
|
G to T at 1073
|
Gly to Val at 314
|
c.941G>A
|
p.Gly314Glu
|
G314E
|
exon 8
|
G to A at 1073
|
Gly to Glu at 314
|
c.987delA
|
p.Gly330GlufsX39
|
1119delA
|
exon 8
|
deletion of A at 1119
|
frameshift
|
c.988G>T
|
p.Gly330X
|
G330X
|
exon 8
|
G to T at 1120
|
Gly to Stop at 330
|
c.1270G>A
|
p.Gly424Ser
|
G424S
|
exon 10
|
G to A at 1402
|
Gly to Ser at 424
|
c.1310G>T
|
p.Gly437Val
|
|
exon 10
|
|
|
c.1367T>C
|
p.Val456Ala
|
V456A
|
exon 10
|
T to C at 1499
|
Val to Ala at 456 (sequence variation?)
|
c.1373delG
|
p.Gly458AspfsX11
|
1504delG
|
exon 10
|
deletion of G at 1504
|
frameshift
|
c.1373G>T
|
p.Gly458Val
|
G458V
|
exon 10
|
G to T at 1505
|
Gly to Val at 458
|
c.1388G>T
|
p.Gly463Val
|
|
exon 10
|
|
|
c.1388G>T
|
p.Gly463Val
|
G463V
|
exon 10
|
G to T at 1520
|
|
c.1418delG
|
p.Gly473GlufsX54
|
1548delG
|
exon 11
|
deletion of G from 1548 - 1550
|
frameshift
|
c.1438G>A
|
p.Gly480Ser
|
G480S
|
exon 11
|
G to A at 1570
|
Gly to Ser at 480
|
c.1438G>T
|
p.Gly480Cys
|
G480C
|
exon 11
|
G to T at 1570
|
Gly to Cys at 480
|
c.1439G>A
|
p.Gly480Asp
|
G480D
|
exon 11
|
G to A at 1571
|
Gly to Asp at 480
|
c.1439delG
|
p.Gly480ValfsX47
|
1571delG
|
exon 11
|
deletion of G at 1571
|
frameshift
|
c.1456G>T
|
p.Gly486X
|
G486X
|
exon 11
|
G to T at 1588
|
Gly to Stop at 486
|
c.1546A>G
|
p.Arg516Gly
|
R516G
|
exon 11
|
A to G at 1678
|
Arg to Gly at 516
|
c.1546A>G
|
p.Arg516Gly
|
R516G
|
exon 11
|
A to G at 1678
|
Arg to Gly at 516
|
c.1624G>T
|
p.Gly542X
|
G542X
|
exon 12
|
G to T at 1756
|
Gly to Stop at 542
|
c.1625G>A
|
p.Gly542Glu
|
G542E
|
exon 12
|
1757G>A
|
|
c.1630G>A
|
p.Gly544Ser
|
G544S
|
exon 12
|
G to A at 1762
|
Gly to Ser at 544
|
c.1631G>T
|
p.Gly544Val
|
G544V
|
exon 12
|
G to T at 1763
|
Gly to Val at 544 (CBAVD)
|
c.1648G>A
|
p.Gly550Arg
|
G550R
|
exon 12
|
G to A at 1780
|
Gly to Arg at 550
|
c.1648G>T
|
p.Gly550X
|
G550X
|
exon 12
|
G to T at 1780
|
Gly to Stop at 550
|
c.1650delA
|
p.Gly551ValfsX8
|
1782delA
|
exon 12
|
deletion of A at 1782
|
frameshift
|
c.1651G>A
|
p.Gly551Ser
|
G551S
|
exon 12
|
G to A at 1783
|
Gly to Ser at 551
|
c.1652G>A
|
p.Gly551Asp
|
G551D
|
exon 12
|
G to A at 1784
|
Gly to Asp at 551
|
c.1652delG
|
p.Gly551ValfsX8
|
1784delG
|
exon 12
|
deletion of G at 1784
|
frameshift
|
c.1726G>T
|
p.Gly576X
|
G576X
|
exon 13
|
G to T at 1858
|
Gly to Stop at 576
|
c.1727G>C
|
p.Gly576Ala
|
G576A
|
exon 13
|
G to C at 1859
|
Gly to Ala at 576 (CAVD)
|
c.1865G>A
|
p.Gly622Asp
|
G622D
|
exon 14
|
G to A at 1997
|
Gly to Asp at 622 (oligospermia)
|
c.1882G>C
|
p.Gly628Arg
|
G628R(G- >C)
|
exon 14
|
G to C at 2014
|
Gly to Arg at 628
|
c.1882G>A
|
p.Gly628Arg
|
G628R(G- >A)
|
exon 14
|
G to A at 2014
|
Gly to Arg at 628
|
c.2017G>T
|
p.Gly673X
|
G673X
|
exon 14
|
G to T at 2149
|
Gly to Stop at 673
|
c.2168G>T
|
p.Gly723Val
|
G723V
|
exon 14
|
G to T at 2300
|
Gly to Val at 723
|
c.2233G>T
|
p.Gly745X
|
G745X(Gly745X)
|
exon 14
|
G to T at 2365
|
Non-sense mutation
|
c.2450G>T
|
p.Gly817Val
|
|
exon 14
|
|
|
c.2634_2641delGGTTGTGC
|
p.Leu878PhefsX15
|
2766del8
|
exon 16
|
deletion of 8 bp from 2766
|
frameshift
|
c.2762G>A
|
p.Gly921Glu
|
G921E
|
exon 17
|
2894G>A
|
|
c.2908G>C
|
p.Gly970Arg
|
G970R
|
exon 17
|
G to C at 3040
|
Gly to Arg at 970
|
c.2908G>A
|
p.Gly970Ser
|
G970S
|
exon 17
|
G to A at 3040
|
Gly to Ser at 970
|
c.2909G>A
|
p.Gly970Asp
|
G970D
|
exon 18
|
G to A at 3041
|
Gly to Asp at 970
|
c.2909delG
|
p.Gly970ValfsX11
|
3041delG
|
exon 18
|
deletion of G at 3041
|
frameshift
|
c.2929T>C
|
p.Ser977Pro
|
S977P
|
exon 18
|
T to C at 3061
|
Ser to Pro at 977
|
c.2991G>C
|
p.Leu997Phe
|
L997F
|
exon 19
|
G or C at 3123
|
Leu or Phe at 997 (sequence variation)
|
c.2991G>C
|
p.Leu997Phe
|
L997F
|
exon 19
|
G or C at 3123
|
Leu or Phe at 997 (sequence variation)
|
c.3007G>T
|
p.Gly1003X
|
G1003X
|
exon 19
|
G to T at 3139
|
Gly to Stop at 1003
|
c.3008G>A
|
p.Gly1003Glu
|
G1003E
|
exon 19
|
G to A at 3140
|
Gly to Glu at 1003
|
c.3139G>C
|
p.Gly1047Arg
|
G1047R
|
exon 19
|
G to C at 3271
|
Gly to Arg at 1047
|
c.3139_3139+1delGG
|
p.Gly1047GlnfsX28
|
3271delGG
|
exon 19
|
deletion of GG at 3271
|
framshift for exon 17b, loss of splice site
|
c.3140G>A
|
p.Gly1047Asp
|
G1047D
|
exon 20
|
G to A at 3272
|
Gly to Asp at 1047 and mRNA splicing defect? (CBAVD?)
|
c.3158C>T
|
p.Thr1053Ile
|
T1053I
|
exon 20
|
C to T at 3290
|
Thr to Ile at 1053 (CBAVD?)
|
c.3181G>C
|
p.Gly1061Arg
|
G1061R
|
exon 20
|
G to C at 3313
|
Gly to Arg at 1061
|
c.3194T>G
|
p.Leu1065Arg
|
L1065R
|
exon 20
|
T to G at 3326
|
Leu to Arg at 1065
|
c.3205G>A
|
p.Gly1069Arg
|
G1069R
|
exon 20
|
G to A at 3337
|
Gly to Arg at 1069
|
c.3274T>C
|
p.Tyr1092His
|
Y1092H
|
exon 20
|
T to C at 3406
|
Tyr to His at 1092
|
c.3275A>G
|
p.Tyr1092Cys
|
Y1092C
|
exon 20
|
A to G at 3407
|
Tyr to Cys at 1092
|
c.3276C>G
|
p.Tyr1092X
|
Y1092X(C- >G)
|
exon 20
|
C to G at 3408
|
Tyr to Stop at 1092
|
c.3276C>A
|
p.Tyr1092X
|
Y1092X(C- >A)
|
exon 20
|
C to A at 3408
|
Tyr to Stop at 1092
|
c.3367G>C
|
p.Gly1123Arg
|
G1123R
|
exon 20
|
G to C at 3499
|
Gly to Arg at 1123 mRNA splicing defect?
|
c.3380G>A
|
p.Gly1127Glu
|
G1127E
|
exon 21
|
G to A at 3512
|
Gly to Glu at 1127
|
c.3389G>C
|
p.Gly1130Ala
|
G1130A
|
exon 21
|
G to C at 3521
|
Gly to Ala at 1130
|
c.3469-331_3469-295del37;3469-189_3717+3822del4260pb
|
|
|
intron 21 - exon 22
|
|
|
c.3600A>G
|
p.Asp1201MetfsX10
|
3732delA
|
exon 22
|
deletion of A at 3732 and A to G at 3730
|
frameshift and Lys to Glu at 1200
|
c.3611G>A
|
p.Trp1204X
|
W1204X(3743G- >A)
|
exon 22
|
G to A at 3743
|
Trp to Stop at 1204
|
c.3612G>A
|
p.Trp1204X
|
W1204X(3744G- >A)
|
exon 22
|
G to A at 3744
|
Trp to Stop at 1204
|
c.3618_3619delAG
|
p.Gly1208ProfsX56
|
3750delAG
|
exon 22
|
deletion of AG from 3750
|
frameshift
|
c.3623delG
|
p.Gly1208AlafsX3
|
3755delG
|
exon 22
|
deletion of G between 3751 and 3755
|
frameshift
|
c.3664_3665insTCAA
|
p.Gly1222ValfsX44
|
|
exon 22
|
|
|
c.3709G>A
|
p.Gly1237Ser
|
G1237S
|
exon 22
|
G to A at 3841
|
Gly to Ser at 1237
|
c.3717G>A
|
|
3849G- >A
|
exon 22
|
G to A at 3849
|
mRNA splicing defect?
|
c.3717G>C
|
p.Arg1239Ser
|
R1239S
|
exon 22
|
G to C at 3849
|
Arginine to Serine at 1239
|
c.3717+40A>G
|
|
3849+ 40A- >G
|
intron 22
|
A to G at 3849+ 40
|
Splicing
|
c.3717+45G>A
|
|
3849+ 45G- >A
|
intron 22
|
G to A at 3849+ 45
|
Splicing
|
c.3717+4A>G
|
|
3849+ 4A- >G
|
intron 22
|
A to G at 3849+ 4
|
mRNA splicing defect?
|
c.3717+5G>A
|
|
3849+ 5G- >A
|
intron 22
|
G to A at 3849+ 5
|
mRNA splicing defect?
|
c.3717+12191C>T
|
|
3849+ 10kbC- >T
|
intron 22
|
C to T in a 6.2 kb EcoRI fragment 10 kb from 19
|
creation of splice acceptor site
|
c.3717+1G>A
|
|
3849+ 1G- >A
|
intron 22
|
G to A at 3849+ 1
|
mRNA splicing defect
|
c.3717+12191C>T
|
|
3849+ 10kbC- >T
|
intron 22
|
C to T in a 6.2 kb EcoRI fragment 10 kb from 19
|
creation of splice acceptor site
|
c.3717+1G>A
|
|
3849+ 1G- >A
|
intron 22
|
G to A at 3849+ 1
|
mRNA splicing defect
|
c.3730G>A
|
p.Gly1244Arg
|
G1244R
|
exon 23
|
G to A at 3862
|
Gly to Arg at 1244
|
c.3731G>A
|
p.Gly1244Glu
|
G1244E
|
exon 23
|
G to A at 3863
|
Gly to Glu at 1244
|
c.3731G>T
|
p.Gly1244Val
|
G1244V
|
exon 23
|
G to T at 3863
|
Gly to Val at 1244
|
c.3739G>A
|
p.Gly1247Arg
|
G1247R(G- >A)
|
exon 23
|
G to A at 3871
|
Gly to Arg at 1247
|
c.3739G>C
|
p.Gly1247Arg
|
G1247R(G- >C)
|
exon 23
|
G to C at 3871
|
Gly to Arg at 1247
|
c.3745G>A
|
p.Gly1249Arg
|
G1249R
|
exon 23
|
G to A at 3877
|
Gly to Arg at 1249
|
c.3746G>A
|
p.Gly1249Glu
|
G1249E
|
exon 23
|
G to A at 3878
|
Gly to Glu at 1249
|
c.3717+12192G>A
|
|
3849+ 12192G>A
|
intron 22
|
3849+ 12192G>A
|
|
c.3717+12192G>A
|
|
3849+ 12192G>A
|
intron 22
|
3849+ 12192G>A
|
|
c.3868C>A
|
p.Pro1290Thr
|
P1290T
|
exon 23
|
C to A at 4000
|
Pro to Thr at 1290
|
c.3868C>T
|
p.Pro1290Ser
|
P1290S
|
exon 23
|
C to T at 4000
|
Pro to Ser at 1290
|
c.3890_3891insT
|
p.Gly1298TrpfsX4
|
4022insT
|
exon 24
|
insertion of T at 4022
|
Frameshift.
|
c.3893G>C
|
p.Gly1298Ala
|
G1298A
|
exon 24
|
4025G>C
|
|
c.3997G>T
|
p.Gly1333Trp
|
G1333W
|
exon 25
|
4129G>T
|
|
c.4027G>A
|
p.Gly1343Ser
|
|
exon 25
|
|
|
c.4035_4038dupCCTA
|
p.Ser1347ProfsX13
|
|
exon 25
|
|
|
c.4039_4040insA
|
p.Ser1347LysfsX12
|
4171insA
|
exon 25
|
insertion of A at 4171
|
Frameshift a premature stop codon appears 12 codons further.
|
c.4040_4041delGC
|
p.Ser1347ThrfsX11
|
4172delGC
|
exon 25
|
deletion of GC from 4172
|
frameshift
|
c.4045G>A
|
p.Gly1349Ser
|
G1349S
|
exon 25
|
G to A at 4177
|
Gly to Ser at 1349
|
c.4046G>A
|
p.Gly1349Asp
|
G1349D
|
exon 25
|
G to A at 4178
|
Gly to Asp at 1349
|
c.4193T>G
|
p.Ile1398Ser
|
I1398S
|
exon 26
|
T to G at 4325
|
Ile to Ser at 1398
|
c.(?_3469)_(3717_?)del5.3kb
|
|
CFTRdele19
|
exon 22
|
deletion of 5.3kb, removing exon 19
|
?
|
|
|