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    • 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 ?




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The Database was last updated at Apr 25, 2011