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    • Searching for "551" in the Protein Name field will retrieve all mutations that alter the protein at position 551.
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cDNA Name Protein Name Legacy Name Region Description Consequence
c.(?_744)_(2988_?)dup exon 7 - exon 18 Duplication of exons 6B to 16
c.-869T[8_9] - 790T9/8 promoter 9T or 8T at - 790 promoter mutation original mapping was incorrect
c.-495C>T - 363C/T promoter C to T at - 363 promoter mutation
c.-461A>G - 329A/G promoter A or G at - 329 upstream of the cap site promoter mutation
c.49_50dupTT p.Trp19AlafsX7 exon 1
c.54-4235_164+377dup4723 intron 1
c.149C>A p.Ser50Tyr S50Y exon 2 C to A at 281 Ser to Tyr at 50 (CBAVD)
c.164+1G>T 296+ 1G- >T intron 2 G to T at 296+ 1 missense; mRNA splicing defect?
c.164+9A>T 296+ 9A- >T intron 2 A to T at 296+ 9 mRNA splicing defect?
c.164_263dupGAGAATGGGATAGAGAGCTGGCTTCAAAGAAAAATCCTAAACTCATTAATGCCCTTCGGCGATGTTTTTTCTGGAGATTTATGTTCTATGGAATCTTTTT p.Tyr89ArgfsX4 exon 2 - exon 3
c.165-10T>G 297- 10T- >G intron 2 T to G at 297- 10 splice mutation?
c.165-3C>A 297- 3C- >A intron 2 C to A at 297- 3 mRNA splicing defect?
c.165-2A>G 297- 2A- >G intron 2 A to G at 297- 2 mRNA splicing defect
c.169T>C p.Trp57Arg W57R exon 3 T to C at 301 Trp to Arg at 57
c.262_263delTT p.Leu88IlefsX22 394delTT exon 3 deletion of TT from 394 frameshift
c.264_268delATATT p.Leu88PhefsX21 exon 3
c.292C>T p.Gln98X Q98X exon 4 C to T at 424 Gln to Stop at 98 (Pakistani specific?)
c.346G>C p.Glu116Gln E116Q exon 4 G to C at 478 Glu to Gln at 116
c.374T>C p.Ile125Thr I125T exon 4 T to C at 506 Ile to Thr at 125
c.379_381dupTTA p.Leu127dup L127dup exon 4 511_513dupTTA
c.388C>G p.Leu130Val L130V exon 4 C to G at 520 Leucine to Valine at 130
c.405_406dupAC p.Leu136HisfsX18 exon 4
c.410T>A p.Leu137His L137H exon 4 T to A at 542 Leu to His at 137
c.414_415insCTA p.Leu139X 546insCTA exon 4 insertion of CTA at 546 frameshift
c.459_476delAATAGCTATGTTTAGTTT p.Ala155_Ile160del 591del18 exon 4 deletion of 18 bp from 591 deletion of 6 a.a. from
c.463G>C p.Ala155Pro A155P exon 4 G to C at 595 Ala to Pro at 155
c.481T>G p.Tyr161Asp Y161D exon 4 T to G at 613 Tyr to Asp at 161
c.490-1G>A 622- 1G- >A intron 4 G to A at 622- 1 mRNA splicing defect
c.592G>C p.Ala198Pro A198P exon 6 G to C at 724 Ala to Pro at 198
c.650A>G p.Glu217Gly E217G exon 6 A to G at 782 Glu to Gly at 217
c.653T>A p.Leu218X L218X exon 6 T to A at 785 Leu to Stop at 218
c.715G>A p.Gly239Arg G239R exon 6 G to A at 847 Gly to Arg at 239
c.859_863delAACTT p.Asn287LysfsX19 991del5 exon 7 deletion AACTT from 991 or CTTAA from 993 frameshift
c.920G>A p.Ser307Asn S307N exon 8 G to A at 1052 Ser to Asn at 307
c.933_935delCTT p.Phe312del [delta]F311 exon 8 deletion of 3 bp between 1059 and 1069 deletion of Phe310, 311 or 312
c.980delT p.Leu327GlnfsX42 1112delT exon 8 deletion of T at 1112 frameshift
c.1018delA p.Ile340SerfsX29 1150delA exon 8 deletion of A at 1150 frameshift
c.1008_1019dup12 p.Phe337_Ile340dup 1151ins12 exon 8 tandem duplication of 12 bp from position 1140 to position 1151 Insertion-duplication of 4 amino acids within the M6 domain (transmembrane domain)
c.1054C>T p.Arg352Trp R352W exon 8 C to T at 1186 Arg to Trp at 352
c.1117-30_1117-29delTA 1249- 30delAT intron 8 deletion of AT from 1249- 30 mRNA splicing defect?
c.1163C>T p.Thr388Met T388M exon 9 C to T at 1295 Thr to Met at 388 (sequence variation?)
c.1175T>G p.Val392Gly V392G exon 9 T to G at 1307 Val to Gly at 392
c.1220A>T p.Glu407Val E407V exon 10 A to T at 1352 Glu to Val at 407
c.1240_1244delCAAAA p.Asn415X 1367del5 exon 10 deletion of CAAAA at 1367 frameshift
c.1329_1330insAGAT p.Ile444ArgfsX3 1461ins4 exon 10 insertion of AGAT after 1461 frameshift
c.1331T>G p.Ile444Ser I444S exon 10 T to G at 1463 Ile to Ser at 444
c.1340delA p.Lys447ArgfsX2 1471delA exon 10 deletion of A at 1471 frameshift
c.1438G>A p.Gly480Ser G480S exon 11 G to A at 1570 Gly to Ser at 480
c.1516A>C p.Ile506Leu I506L exon 11 A to C at 1648 Ile to Leu at 506
c.1517T>G p.Ile506Ser I506S exon 11 T to G at 1649 Ile to Ser at 506
c.1579G>C p.Glu527Gln E527Q exon 11 G to C at 1711 Glu to Gln at 527
c.1584+51_1584_61dup11 dup1716+ 51- >61 intron 11 duplication of 11 bp at 1716+ 51 sequence variation
c.1584+63_1584+64ins11 1716+ 63ins11nt intron 11 insertion of 11 nucleotides after 1716+ 63 sequence variation
c.1584+63A>C 1716+ 64A/C intron 11 A or C at 1716+ 64 sequence variation
c.1584+77A>G 1716+ 77A/G intron 11 A or G at 1716+ 77 sequence variation
c.1585-2A>G 1717- 2A- >G intron 11 A to G at 1717- 2 mRNA splicing defect
c.1663A>G p.Arg555Gly R555G exon 12 A to G at 1795 Arg to Gly at 555
c.1801A>T p.Ile601Phe I601F exon 14 A to T at 1933 Ile to Phe at 601
c.1920_1921dupTA p.Ser641IlefsX23 exon 14
c.2036G>A p.Trp679X W679X exon 14 G to A at 2168 Trp to Stop at 679
c.2240_2247delCGATACTG p.Ile748SerfsX28 2372del8 exon 14 deletion of 8 bp from 2372 frameshift
c.2260G>A p.Val754Met V754M exon 14 G to A at 2392 Val to Met at 754
c.2279C>T p.Thr760Met T760M exon 14 C to T at 2411 Thr to Met at 760
c.2353C>T p.Arg785X R785X exon 14 C to T at 2485 Arg to Stop at 785
c.2374C>G p.Arg792Gly R792G exon 14 C to G at 2506 Arg to Gly at 792
c.2490+2_2490+7delTAGGTA 2622+ 2del6 intron 14 deletion of TAGGTA from 2622+ 2 mRNA splicing defect
c.2556T>G p.Tyr852X Y852X exon 15 T to G at 2688 Tyr to stop at 852 (Premature termination)
c.2589_2599delAATTTGGTGCT p.Ile864SerfsX28 2721del11 exon 15 deletion of 11 bp from 2721 frameshift
c.2620-25dupA 2752- 33insA intron 15 2752- 33insA
c.2749T>G p.Tyr917Asp Y917D exon 17 T to G at 2881 Tyr to Asp at 917
c.2836A>T p.Lys946X K946X exon 17 A to T at 2968 Lys to Stop at 946
c.2855T>C p.Met952Thr M952T exon 17 T to C at 2987 Met to Thr at 952
c.2896delA p.Thr966ArgfsX2 3028delA exon 17 deletion of A at 3028 frameshift
c.2909-1G>A 3041- 1G- >A intron 17 G to A at 3041- 1 mRNA splicing defect
c.2947_2948delTT p.Leu983GlyfsX2 3079delTT exon 18 deletion of TT from 3079 frameshift
c.3038C>T p.Pro1013Leu P1013L exon 19 C to T at 3170 Pro to Leu at 1013
c.3041_3042delAC p.Ile1015LeufsX31 3173delAC exon 19 deletion of AC from 3173 frameshift
c.3047T>C p.Phe1016Ser F1016S exon 19 T to C at 3179 Phe to Ser at 1016
c.3084G>T p.Met1028Ile M1028I exon 19 G to T at 3216 Met to Ile at 1028
c.3263dupA p.Asn1088LysfsX68 exon 20
c.3264delC p.Trp1089GlyfsX13 3396delC exon 20 deletion of C at 3396 frameshift
c.3353C>G p.Ser1118Cys S1118C exon 20 C to G at 3485 Ser to Cys at 1118
c.3364delA p.Thr1122GlnfsX12 3495delA exon 20 deletion of A at 3495 frameshift
c.3367G>C p.Gly1123Arg G1123R exon 20 G to C at 3499 Gly to Arg at 1123 mRNA splicing defect?
c.3367+3A>G 3499+ 3A- >G intron 20 A to G at 3499+ 3 mRNA splicing defect?
c.3424_3425insAGTA p.Thr1142LysfsX15 3556insAGTA exon 21 insertion of AGTA after position 3556 frame shift
c.3468+2_3468+3insT 3600+ 2insT intron 21 insertion of T after 3600+ 2 mRNA splicing defect?
c.3469-20T>C 3601- 20T- >C intron 21 T to C at 3601- 20 mRNA splicing mutant?
c.3490_3491insT p.Lys1165X 3622insT exon 22 insertion of T after 3622 frameshift
c.3540delA p.Lys1180AsnfsX12 3670delA exon 22 deletion of A at 3670 frameshift
c.3546C>G p.Tyr1182X Y1182X exon 22 C to G at 3678 Tyr to Stop at 1182
c.3556C>T p.Gln1186X Q1186X exon 22 C to T at 3688 Gln to Stop at 1186
c.3569T>A p.Val1190Asp V1190D exon 22 T to A at 3701 Val to Asp at 1190
c.3719T>G p.Val1240Gly V1240G exon 23 T to G at 3851 Val to Gly at 1240
c.3744delA p.Lys1250ArgfsX9 3876delA exon 23 deletion of A at 3876 frameshift
c.3747delG p.Lys1250ArgfsX9 3878delG exon 23 deletion of G at 3878 frameshift mutation at 1249 and stop codon at 1258
c.3754A>C p.Thr1252Pro T1252P exon 23 A to C at 3886 Thr to Pro at 1252
c.3761T>G p.Leu1254X L1254X exon 23 T to G at 3893 Leu to Stop at 1254
c.3790_3799delGAAGGAGAAA p.Glu1264SerfsX11 3922del10- >C exon 23 deletion of 10 bp from 3922 and replacement with 3921 deletion of Glu1264 to Glu1266
c.3822G>A p.Trp1274X W1274X exon 23 G to A at 3954 Trp to Stop at 1274
c.3874-103delT 4006- 103delT intron 23 deletion of T at 4006- 103 sequence variation?
c.3876delA p.Val1293TyrfsX35 4006delA exon 24 deletion of A at 4006 frameshift
c.3908dupA p.Asn1303LysfsX6 exon 24
c.3916_3917insCC p.Tyr1307ProfsX22 4048insCC exon 24 insertion of CC after 4048 frameshift
c.3921T>A p.Tyr1307X Y1307X exon 24 T to A at 4053 Tyr to Stop at 1307
c.3963+42T>C 4095+ 42T/C intron 24 T or C at 4095+ 42 sequence variation?
c.4004T>C p.Leu1335Pro L1335P exon 25 T to C at 4136 Leu to Pro at 1335
c.4025_4028dupGGGG p.Cys1344GlyfsX16 exon 25
c.4035_4038dupCCTA p.Ser1347ProfsX13 exon 25
c.4042delC p.His1348MetfsX6 4173delC exon 25 deletion of C at 4173 frameshift
c.4111_4113dupGAA p.Glu1371dup exon 25
c.4147_4148insA p.Ile1383AsnfsX3 4279insA exon 26 insertion of A after 4279 frameshift
c.4196_4197delTC p.Cys1400X 4326delTC exon 26 deletion of TC from 4326 frameshift
c.4201dupG p.Glu1401GlyfsX61 exon 26
c.4234C>T p.Gln1412X Q1412X exon 26 C to T at 4366 Gln to Stop at 1412
need to get source data - 912dupT promoter deletion of T at nucleotide - 912 promoter mutation original mapping was incorrect
c.(?_1211)_(2988_?)dup CFTRdup10_18 exon 11 - exon 21 Duplication of exons 10 to 18 The position and orientation of the duplicated region have not been determined. However, given the classical CF phenotype, it is hypothesized that it is located inside the CFTR gene.
c.(?_1394)_(1766_?)dup CFTRdup11_13 exon 12 - exon 14 Duplication of exons 11 to 13 The position and orientation of the duplicated region have not been determined.
c.(?_744)_(1584_?)dup Dup ex 6b- 10 (gIVS6a+ 415_IVS10+ 2987Dup26817bp) exon 7 - exon 11 A duplication of exons 6b- 10. The duplication is 26817 bp long. Out-of-frame fusion of exon 10 to exon 6b
c.(?_274)_(1210_?)dup CFTRdup4- 8 exon 4 - exon 9 Duplication of exons 4 to 8 Complex rearrangement. The position and orientation of the duplicated region is not determined so far. However, given the classical CF phenotype, it is hypothesized that it is located inside the CFTR gene.
c.(?_-132)_(273_?)dup CFTRdup1- 3 exon 1 - exon 3 Duplication of exons 1 to 3 Large rearrangement. The break points and orientation are being assessed




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The Database was last updated at Apr 25, 2011