Missense nonsense CFTR

From Bioinformatikpedia

Missense/nonsense mutations

There are 836 public available reports and 19 additional reports, 63 additional phenotype reports and 16 functional characterisation reports available to subscribers.

Accession Number Codon change Amino acid change Codon number Phenotype
CM930093 ATG-AAG Met-Lys 1 Cystic fibrosis
CM994781 ATG-ACG Met-Thr 1 Cystic fibrosis
CM010791 ATG-AGG Met-Arg 1 Asthma
CM941965 ATGc-ATA Met-Ile 1 Cystic fibrosis
CM960274 ATGc-ATT Met-Ile 1 Cystic fibrosis
CM930094 cATG-GTG Met-Val 1 Cystic fibrosis
CM940232 gCAG-TAG Gln-Term 2 Cystic fibrosis
CM940233 gAGG-TGG Arg-Trp 3 Cystic fibrosis
CM930095 TCG-TAG Ser-Term 4 Cystic fibrosis
CM970256 CCT-CTT Pro-Leu 5 Cystic fibrosis
CM021068 tCTG-GTG Leu-Val 6 Cystic fibrosis
CM031655 gGAA-TAA Glu-Term 7 Cystic fibrosis
CM952250 cAGC-CGC Ser-Arg 10 Cystic fibrosis
CM010792 cGTT-ATT Val-Ile 11 Asthma
CM962449 TCC-TTC Ser-Phe 13 Cystic fibrosis
CM931138 cAAA-TAA Lys-Term 14 Cystic fibrosis
CM067745 cAGC-GGC Ser-Gly 18 Cystic fibrosis
CM983534 TGGa-TGA Trp-Term 19 Cystic fibrosis
CM970257 TGGa-TGT Trp-Cys 19 Cystic fibrosis
CM043456 TTGa-TTC Leu-Phe 24 Cystic fibrosis
CM043457 aGGA-AGA Gly-Arg 27 Cystic fibrosis
CM057570 aGGA-CGA Gly-Arg 27 Cystic fibrosis
CM920138 aGGA-TGA Gly-Term 27 Cystic fibrosis
CM940234 GGA-GAA Gly-Glu 27 Cystic fibrosis
CM940235 aCAG-TAG Gln-Term 30 Cystic fibrosis
CM950231 CGC-CTC Arg-Leu 31 Cystic fibrosis
CM931139 gCGC-TGC Arg-Cys 31 Pancreatitis
CM034776 aGAC-AAC Asp-Asn 36 Cystic fibrosis
CM920139 cCAA-TAA Gln-Term 39 Cystic fibrosis
CM950232 TCT-TTT Ser-Phe 42 Cystic fibrosis
CM920140 GAT-GGT Asp-Gly 44 Cystic fibrosis
CM970258 GCT-GAT Ala-Asp 46 Cystic fibrosis
CM952045 aTCT-CCT Ser-Pro 50 Cystic fibrosis
CM970259 TCT-TAT Ser-Tyr 50 Cystic fibrosis
CM067734 AGA-AAA Arg-Lys 55 Cystic fibrosis
CM970260 aGAA-AAA Glu-Lys 56 Congenital absence of vas deferens
CM972934 aTGG-CGG Trp-Arg 57 Cystic fibrosis
CM950233 aTGG-GGG Trp-Gly 57 Cystic fibrosis
CM930096 TGG-TAG Trp-Term 57 Cystic fibrosis
CM994782 TGGg-TGA Trp-Term 57 Cystic fibrosis
CM003234 GAT-GGT Asp-Gly 58 Cystic fibrosis
CM970261 gGAT-AAT Asp-Asn 58 Congenital absence of vas deferens
CM003235 aGAG-AAG Glu-Lys 60 Cystic fibrosis
CM920141 aGAG-TAG Glu-Term 60 Cystic fibrosis
CM057577 CTG-CCG Leu-Pro 61 Cystic fibrosis
CM034777 aAAG-GAG Lys-Glu 64 Cystic fibrosis
CM034778 AAT-AGT Asn-Ser 66 Cystic fibrosis
CM930097 CCT-CTT Pro-Leu 67 Cystic fibrosis
CM076095 tCCT-TCT Pro-Ser 67 Cystic fibrosis
CM920979 AAAc-AAT Lys-Asn 68 Cystic fibrosis
CM972935 tAAA-GAA Lys-Glu 68 Cystic fibrosis
CM962450 GCC-GAC Ala-Asp 72 Cystic fibrosis
CM993844 tGCC-ACC Ala-Thr 72 Cystic fibrosis
CM003236 CGG-CAG Arg-Gln 74 Cystic fibrosis
CM930098 tCGG-TGG Arg-Trp 74 Cystic fibrosis
CM980331 CGA-CAA Arg-Gln 75 Congenital absence of vas deferens
CM950234 CGA-CTA Arg-Leu 75 Cystic fibrosis
CM940236 gCGA-TGA Arg-Term 75 Cystic fibrosis
CM931140 cTGG-CGG Trp-Arg 79 Cystic fibrosis
CM931141 TGG-TAG Trp-Term 79 Cystic fibrosis
CM067768 tATG-GTG Met-Val 82 Cystic fibrosis
CM067752 cTAT-CAT Tyr-His 84 Cystic fibrosis
CM910068 GGA-GAA Gly-Glu 85 Cystic fibrosis
CM970262 GGA-GTA Gly-Val 85 Cystic fibrosis
CM940237 cTTT-CTT Phe-Leu 87 Cystic fibrosis
CM940238 TTA-TAA Leu-Term 88 Cystic fibrosis
CM960275 TTA-TCA Leu-Ser 88 Cystic fibrosis
CM920142 TTA-TGA Leu-Term 88 Cystic fibrosis
CM993845 TAT-TGT Tyr-Cys 89 Cystic fibrosis
CM983535 TTA-TCA Leu-Ser 90 Cystic fibrosis
CM930099 aGGG-AGG Gly-Arg 91 Cystic fibrosis
CM043458 GAAg-GAT Glu-Asp 92 Cystic fibrosis
CM920143 gGAA-AAA Glu-Lys 92 Cystic fibrosis
CM940239 gGAA-TAA Glu-Term 92 Cystic fibrosis
CM983536 GCA-GAA Ala-Glu 96 Cystic fibrosis
CM980332 aCAG-TAG Gln-Term 98 Cystic fibrosis
CM015351 CAG-CCG Gln-Pro 98 Congenital absence of vas deferens
CM950235 CAG-CGG Gln-Arg 98 Cystic fibrosis
CM920980 CCT-CTT Pro-Leu 99 Cystic fibrosis
CM034779 TTA-TCA Leu-Ser 101 Congenital absence of vas deferens
CM962451 TTA-TGA Leu-Term 101 Cystic fibrosis
CM015352 CTG-CCG Leu-Pro 102 Cystic fibrosis
CM057578 CTG-CGG Leu-Arg 102 Cystic fibrosis
CM920981 gGGA-TGA Gly-Term 103 Cystic fibrosis
CM003237 ATC-AAC Ile-Asn 105 Cystic fibrosis
CM074735 GCT-GGT Ala-Gly 107 Asthenospermia
CM950236 TCC-TTC Ser-Phe 108 Cystic fibrosis
CM983537 cTAT-AAT Tyr-Asn 109 Cystic fibrosis
CM940240 TAT-TGT Tyr-Cys 109 Cystic fibrosis
CM040400 TATg-TAA Tyr-Term 109 Cystic fibrosis
CM993846 GACc-GAA Asp-Glu 110 Cystic fibrosis
CM024660 tGAC-AAC Asp-Asn 110 Hypertrypsinaemia, neonatal
CM900042 tGAC-CAC Asp-His 110 Cystic fibrosis
CM003238 tGAC-TAC Asp-Tyr 110 Cystic fibrosis
CM962452 cCCG-GCG Pro-Ala 111 Cystic fibrosis
CM970263 CCG-CTG Pro-Leu 111 Congenital absence of vas deferens
CM074727 AAC-ATC Asn-Ile 113 Congenital absence of vas deferens
CM043459 cAAG-TAG Lys-Term 114 Cystic fibrosis
CM001648 gGAG-TAG Glu-Term 115 Cystic fibrosis
CM941966 gGAA-AAA Glu-Lys 116 Cystic fibrosis
CM003239 gGAA-CAA Glu-Gln 116 Cystic fibrosis
CM066753 gGAA-TAA Glu-Term 116 Cystic fibrosis
CM005456 aCGC-GGC Arg-Gly 117 Congenital absence of vas deferens
CM940241 aCGC-TGC Arg-Cys 117 Cystic fibrosis
CM900043 CGC-CAC Arg-His 117 Cystic fibrosis
CM930100 CGC-CCC Arg-Pro 117 Cystic fibrosis
CM950237 CGC-CTC Arg-Leu 117 Cystic fibrosis
CM024661 tATC-GTC Ile-Val 119 Cystic fibrosis
CM940242 cGCG-ACG Ala-Thr 120 Cystic fibrosis
CM034780 GCG-GTG Ala-Val 120 Cystic fibrosis
CM067766 TAT-TGT Tyr-Cys 122 Cystic fibrosis
CM920144 TATc-TAA Tyr-Term 122 Cystic fibrosis
CM065998 tTAT-CAT Tyr-His 122 Congenital absence of vas deferens
CM983538 ATA-ACA Ile-Thr 125 Cystic fibrosis
CM940243 GGC-GAC Gly-Asp 126 Cystic fibrosis
CM962453 TTA-TGA Leu-Term 127 Cystic fibrosis
CM962454 CTC-CAC Leu-His 137 Cystic fibrosis
CM051410 CTC-CCC Leu-Pro 137 Cystic fibrosis
CM972936 CTC-CGC Leu-Arg 137 Cystic fibrosis
CM950238 CAC-CGC His-Arg 139 Cystic fibrosis
CM001649 CAC-CTC His-Leu 139 Cystic fibrosis
CM983539 CCA-CTA Pro-Leu 140 Cystic fibrosis
CM941967 cCCA-TCA Pro-Ser 140 Cystic fibrosis
CM970264 GCC-GAC Ala-Asp 141 Cystic fibrosis
CM057579 CTT-CAT Leu-His 145 Cystic fibrosis
CM962455 CAT-CGT His-Arg 146 Congenital absence of vas deferens
CM962456 ATT-AAT Ile-Asn 148 Cystic fibrosis
CM920145 ATT-ACT Ile-Thr 148 Phenotype modifier, association with
CM067763 GGA-GTA Gly-Val 149 Cystic fibrosis
CM950239 tGGA-AGA Gly-Arg 149 Cystic fibrosis
CM063899 ATG-AAG Met-Lys 150 Cystic fibrosis
CM043460 gCAG-AAG Gln-Lys 151 Congenital absence of vas deferens
CM920146 gCAG-TAG Gln-Term 151 Cystic fibrosis
CM983540 ATG-AGG Met-Arg 152 Cystic fibrosis
CM931142 gATG-GTG Met-Val 152 Cystic fibrosis
CM067757 gATG-TTG Met-Leu 152 Asthenospermia
CM972937 aGCT-CCT Ala-Pro 155 Cystic fibrosis
CM034009 AGT-AAT Ser-Asn 158 Cystic fibrosis
CM055123 AGT-ACT Ser-Thr 158 Cystic fibrosis
CM994783 tAGT-CGT Ser-Arg 158 Congenital absence of vas deferens
CM003240 TTG-TAG Leu-Term 159 Cystic fibrosis
CM024662 TTG-TCG Leu-Ser 159 Cystic fibrosis
CM993848 TAT-TCT Tyr-Ser 161 Cystic fibrosis
CM044864 TAT-TGT Tyr-Cys 161 Cystic fibrosis
CM003241 tTAT-AAT Tyr-Asn 161 Cystic fibrosis
CM993847 tTAT-GAT Tyr-Asp 161 Cystic fibrosis
CM983541 tAAG-GAG Lys-Glu 162 Cystic fibrosis
CM920982 TTA-TCA Leu-Ser 165 Cystic fibrosis
CM970265 aAAG-GAG Lys-Glu 166 Cystic fibrosis
CM920983 cCGT-GGT Arg-Gly 170 Cystic fibrosis
CM941968 cCGT-TGT Arg-Cys 170 Cystic fibrosis
CM015353 CGT-CAT Arg-His 170 Congenital absence of vas deferens
CM940244 aATA-GTA Ile-Val 175 Cystic fibrosis
CM962457 ATT-ACT Ile-Thr 177 Cystic fibrosis
CM043461 GGA-GAA Gly-Glu 178 Cystic fibrosis
CM910069 tGGA-AGA Gly-Arg 178 Cystic fibrosis
CM003242 aCAA-AAA Gln-Lys 179 Cystic fibrosis
CM057583 tCTC-ATC Leu-Ile 183 Cystic fibrosis
CM983542 AACa-AAA Asn-Lys 186 Cystic fibrosis
CM983543 AACc-AAA Asn-Lys 187 Cystic fibrosis
CM060896 AACa-AAA Asn-Lys 189 Cystic fibrosis
CM021553 aTTT-GTT Phe-Val 191 Cystic fibrosis
CM940245 GAT-GGT Asp-Gly 192 Cystic fibrosis
CM941969 tGAT-AAT Asp-Asn 192 Cystic fibrosis
CM950240 tGAA-AAA Glu-Lys 193 Cystic fibrosis
CM941970 tGAA-TAA Glu-Term 193 Cystic fibrosis
CM066544 aGGA-AGA Gly-Arg 194 Pancreatitis, chronic
CM983544 GGA-GTA Gly-Val 194 Cystic fibrosis
CM993849 gGCA-CCA Ala-Pro 198 Cystic fibrosis
CM940246 aCAT-TAT His-Tyr 199 Cystic fibrosis
CM024663 CAT-CGT His-Arg 199 Cystic fibrosis
CM920147 CATt-CAG His-Gln 199 Cystic fibrosis
CM024664 tTTC-ATC Phe-Ile 200 Congenital absence of vas deferens
CM001961 cGTG-ATG Val-Met 201 Cystic fibrosis
CM034781 TGGa-TGA Trp-Term 202 Cystic fibrosis
CM043462 ATCg-ATG Ile-Met 203 Congenital absence of vas deferens
CM024665 CCT-CGT Pro-Arg 205 Cystic fibrosis
CM930101 tCCT-TCT Pro-Ser 205 Cystic fibrosis
CM930102 TTG-TGG Leu-Trp 206 Cystic fibrosis
CM972938 TTGc-TTT Leu-Phe 206 Cystic fibrosis
CM931143 gCAA-TAA Gln-Term 207 Cystic fibrosis
CM983545 gGCA-TCA Ala-Ser 209 Cystic fibrosis
CM034782 CTC-CCC Leu-Pro 210 Cystic fibrosis
CM024666 GGG-GTG Gly-Val 213 Cystic fibrosis
CM993850 TGG-TAG Trp-Term 216 Cystic fibrosis
CM972939 GAG-GGG Glu-Gly 217 Cystic fibrosis
CM962458 TTG-TAG Leu-Term 218 Cystic fibrosis
CM940247 aCAG-TAG Gln-Term 220 Cystic fibrosis
CM983546 CAG-CGG Gln-Arg 220 Cystic fibrosis
CM920148 cTGT-CGT Cys-Arg 225 Cystic fibrosis
CM962459 TGTg-TGA Cys-Term 225 Cystic fibrosis
CM002751 CTT-CGT Leu-Arg 227 Cystic fibrosis
CM970266 GTC-GAC Val-Asp 232 Cystic fibrosis
CM941971 tCAG-GAG Gln-Glu 237 Cystic fibrosis
CM067761 GCT-GTT Ala-Val 238 Congenital absence of vas deferens
CM950241 tGGG-AGG Gly-Arg 239 Cystic fibrosis
CM011283 aGGG-AGG Gly-Arg 241 Cystic fibrosis
CM993851 aATG-CTG Met-Leu 243 Cystic fibrosis
CM970267 ATG-AAG Met-Lys 244 Congenital absence of vas deferens
CM970268 TACa-TAG Tyr-Term 247 Cystic fibrosis
CM972940 AGA-ACA Arg-Thr 248 Congenital absence of vas deferens
CM063902 tGAA-TAA Glu-Term 257 Cystic fibrosis
CM950242 aAGA-GGA Arg-Gly 258 Cystic fibrosis
CM970269 ATG-AGG Met-Arg 265 Congenital absence of vas deferens
CM001962 TACt-TAG Tyr-Term 275 Cystic fibrosis
CM950243 TGCt-TGA Cys-Term 276 Cystic fibrosis
CM043463 cTGG-CGG Trp-Arg 277 Cystic fibrosis
CM066751 aGAA-TAA Glu-Term 279 Cystic fibrosis
CM067756 GAAg-GAT Glu-Asp 279 Cystic fibrosis
CM024667 ATG-ACG Met-Thr 281 Cystic fibrosis
CM055925 gATT-TTT Ile-Phe 285 Cystic fibrosis
CM970270 aAAC-TAC Asn-Tyr 287 Cystic fibrosis
CM952046 aCAA-TAA Gln-Term 290 Cystic fibrosis
CM962763 aGAA-AAA Glu-Lys 292 Cystic fibrosis
CM024668 aCTG-ATG Leu-Met 293 Cystic fibrosis
CM066752 CTG-CAG Leu-Gln 295 Cystic fibrosis
CM920149 CGG-CAG Arg-Gln 297 Cystic fibrosis
CM970271 tCGG-TGG Arg-Trp 297 Congenital absence of vas deferens
CM993852 gGCA-ACA Ala-Thr 299 Cystic fibrosis
CM990360 TAT-TGT Tyr-Cys 301 Hypertrypsinaemia, low sweat chloride
CM962460 TACt-TAG Tyr-Term 304 Cystic fibrosis
CM067754 cTTC-GTC Phe-Val 305 Cystic fibrosis
HM971268 AGC-AAC Ser-Asn 307 Cystic fibrosis
CM024669 aGCC-ACC Ala-Thr 309 Cystic fibrosis
CM941972 GCC-GAC Ala-Asp 309 Cystic fibrosis
CM980334 GCC-GGC Ala-Gly 309 Cystic fibrosis
CM024670 GCC-GTC Ala-Val 309 Hypertrypsinaemia, neonatal
CM920150 cTTC-CTC Phe-Leu 311 Cystic fibrosis
CM057582 TCA-TAA Ser-Term 313 Cystic fibrosis
CM960276 aGGG-CGG Gly-Arg 314 Cystic fibrosis
CM920151 GGG-GAG Gly-Glu 314 Cystic fibrosis
CM972941 GGG-GTG Gly-Val 314 Cystic fibrosis
CM931144 GTG-GCG Val-Ala 317 Cystic fibrosis
CM015354 TTA-TAA Leu-Term 320 Cystic fibrosis
CM941973 TTAt-TTT Leu-Phe 320 Cystic fibrosis
CM962461 tTTA-GTA Leu-Val 320 Congenital absence of vas deferens
CM043464 aTCT-CCT Ser-Pro 321 Cystic fibrosis
CM941974 GTG-GCG Val-Ala 322 Cystic fibrosis
CM011284 tGTG-ATG Val-Met 322 Cystic fibrosis
CM931145 CTA-CGA Leu-Arg 327 Pancreatitis
CM970272 aGGA-TGA Gly-Term 330 Cystic fibrosis
CM910070 cCGG-TGG Arg-Trp 334 Cystic fibrosis
CM952047 CGG-CAG Arg-Gln 334 Cystic fibrosis
CM970273 CGG-CTG Arg-Leu 334 Congenital absence of vas deferens
CM930103 ATA-AAA Ile-Lys 336 Cystic fibrosis
CM930104 ACC-ATC Thr-Ile 338 Cystic fibrosis
CM065996 cACC-GCC Thr-Ala 338 Congenital absence of vas deferens
CM024671 ATC-AAC Ile-Asn 340 Cystic fibrosis
CM057576 cTCA-CCA Ser-Pro 341 Cystic fibrosis
CM940248 CTG-CCG Leu-Pro 346 Cystic fibrosis
CM920152 CGC-CAC Arg-His 347 Cystic fibrosis
CM900044 CGC-CCC Arg-Pro 347 Cystic fibrosis
CM930105 CGC-CTC Arg-Leu 347 Cystic fibrosis
CM931146 gCGC-TGC Arg-Cys 347 Cystic fibrosis
CM930106 ATG-AAG Met-Lys 348 Cystic fibrosis
CM067738 ATG-ACG Met-Thr 348 Cystic fibrosis
CM053173 cATG-GTG Met-Val 348 Pancreatitis
CM930107 GCG-GTG Ala-Val 349 Cystic fibrosis
CM920153 CGG-CAG Arg-Gln 352 Cystic fibrosis
CM034783 tCGG-GGG Arg-Gly 352 Cystic fibrosis
CM962462 tCGG-TGG Arg-Trp 352 Cystic fibrosis
CM952048 CAAt-CAC Gln-His 353 Cystic fibrosis
CM003243 gCAA-TAA Gln-Term 353 Cystic fibrosis
CM067769 tCCC-TCC Pro-Ser 355 Cystic fibrosis
CM043465 TGG-TCG Trp-Ser 356 Cystic fibrosis
CM983547 TGGg-TGA Trp-Term 356 Cystic fibrosis
CM993853 CAA-CGA Gln-Arg 359 Cystic fibrosis
CM983548 ACA-AGA Thr-Arg 360 Cystic fibrosis
CM983549 aTGG-AGG Trp-Arg 361 Cystic fibrosis
CM931147 aTGG-CGG Trp-Arg 361 Cystic fibrosis
CM021069 TATg-TAG Tyr-Term 362 Cystic fibrosis
CM970274 cTCT-CCT Ser-Pro 364 Cystic fibrosis
CM003244 CTT-CCT Leu-Pro 365 Cystic fibrosis
CM067758 GATt-GAG Asp-Glu 373 Cystic fibrosis
CM960277 TTAc-TTC Leu-Phe 375 Cystic fibrosis
CM024672 CAA-CGA Gln-Arg 378 Cystic fibrosis
CM024673 aGAA-AAA Glu-Lys 379 Congenital absence of vas deferens
CM003245 aGAA-TAA Glu-Term 379 Cystic fibrosis
CM972942 TTG-TCG Leu-Ser 383 Cystic fibrosis
CM010793 ACG-ATG Thr-Met 388 Asthma
CM962463 GTA-GCA Val-Ala 392 Congenital absence of vas deferens
CM972943 GTA-GGA Val-Gly 392 Cystic fibrosis
CM983550 ATG-AGG Met-Arg 394 Cystic fibrosis
CM024674 GCC-GAC Ala-Asp 399 Congenital absence of vas deferens
CM003246 GCC-GTC Ala-Val 399 Cystic fibrosis
CM972944 TGG-TAG Trp-Term 401 Cystic fibrosis
CM930111 TGGg-TGA Trp-Term 401 Cystic fibrosis
CM993854 GAGg-GAC Glu-Asp 403 Cystic fibrosis
CM993855 GAA-GTA Glu-Val 407 Cystic fibrosis
CM940249 aCAA-TAA Gln-Term 414 Cystic fibrosis
CM067729 AAT-AGT Asn-Ser 416 Cystic fibrosis
CM941975 AAT-AGT Asn-Ser 418 Cystic fibrosis
CM003247 tGGT-AGT Gly-Ser 424 Cystic fibrosis
CM067748 cAGT-GGT Ser-Gly 431 Cystic fibrosis
CM983551 TCA-TGA Ser-Term 434 Cystic fibrosis
CM055927 tCCT-TCT Pro-Ser 439 Cystic fibrosis
CM970275 aGAT-TAT Asp-Tyr 443 Congenital absence of vas deferens
CM074731 ATT-ACT Ile-Thr 444 Cystic fibrosis
CM993856 ATT-AGT Ile-Ser 444 Cystic fibrosis
CM055125 GGA-GTA Gly-Val 451 Cystic fibrosis
CM972945 CAG-CCG Gln-Pro 452 Cystic fibrosis
CM900045 GCG-GAG Ala-Glu 455 Cystic fibrosis
CM940250 gGTT-TTT Val-Phe 456 Cystic fibrosis
CM022334 GTT-GCT Val-Ala 456 Cystic fibrosis
CM920154 GGA-GTA Gly-Val 458 Cystic fibrosis
CM021554 GGC-GAC Gly-Asp 463 Cystic fibrosis
CM034784 AAGa-AAT Lys-Asn 464 Cystic fibrosis
CM063897 ACT-AAT Thr-Asn 465 Cystic fibrosis
CM960278 TCA-TAA Ser-Term 466 Cystic fibrosis
CM940251 TCA-TGA Ser-Term 466 Cystic fibrosis
CM952049 TCA-TTA Ser-Leu 466 Congenital absence of vas deferens
CM063898 aCTT-TTT Leu-Phe 467 Cystic fibrosis
CM034785 aATG-GTG Met-Val 469 Congenital absence of vas deferens
CM056306 ATGa-ATT Met-Ile 469 Congenital absence of vas deferens
CM034388 gATG-GTG Met-Val 470 Respiratory/pancreatic disease, association with
CM994784 aGAA-AAA Glu-Lys 474 Cystic fibrosis
CM074728 aGAG-TAG Glu-Term 479 Cystic fibrosis
CM015355 gGGT-AGT Gly-Ser 480 Cystic fibrosis
CM920155 gGGT-TGT Gly-Cys 480 Cystic fibrosis
CM952251 GGT-GAT Gly-Asp 480 Cystic fibrosis
CM055126 tAAA-GAA Lys-Glu 481 Cystic fibrosis
CM983552 CAC-CGC His-Arg 484 Cystic fibrosis Ferec (1998) CFTR Locus-specific database Pers com
CM972946 gCAC-TAC His-Tyr 484 Congenital absence of vas deferens Casals (2000) Hum Reprod 15, 147
CM993857 cAGT-TGT Ser-Cys 485 Cystic fibrosis Andrew (1999) CFTR Locus-specific database Pers com
CM952050 tGGA-TGA Gly-Term 486 Cystic fibrosis Hughes (1995) CFTR Locus-specific database Newsletter #6
CM032555 ATTt-ATG Ile-Met 488 Cystic fibrosis Korytina (2003) Mol Biol (Mosk) 37, 6
CM970276 TCA-TAA Ser-Term 489 Cystic fibrosis Plouvier (1997) Annales de Genetique 40, 18
CM983553 cTGT-CGT Cys-Arg 491 Cystic fibrosis Chevalier-Porst (1998) CFTR Locus-specific database Newsletter #7
CM920156 TCT-TTT Ser-Phe 492 Cystic fibrosis Ferec (1992) Nat Genet 1, 18
CM024232 CAG-CCG Gln-Pro 493 Cystic fibrosis Kilinc (2002) Am J Med Genet 113, 25
CM940252 CAG-CGG Gln-Arg 493 Cystic fibrosis Savov (1994) Hum Mol Genet 3, 5
CM900046 tCAG-TAG Gln-Term 493 Cystic fibrosis Kerem (1990) Proc Natl Acad Sci U S A 87, 844
CM940253 TGG-TAG Trp-Term 496 Cystic fibrosis Balassopoulou (1994) Hum Mol Genet 3, 188
CM024675 gATT-GTT Ile-Val 497 Pancreatitis Gaia (2002) Dig Dis Sci 47, 2416 Descr. as I1
CM057571 ATGc-ATC Met-Ile 498 Cystic fibrosis Bienvenu (2005) CFTR Locus-specific database Unpublished
CM980335 gCCT-GCT Pro-Ala 499 Congenital absence of vas deferens Arduino (1998) Clin Genet 53, 20
CM993858 cACC-GCC Thr-Ala 501 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 28
CM024676 ATT-AAT Ile-Asn 502 Cystic fibrosis Hinks (2002) CFTR Locus-specific database Pers com
CM983554 ATT-ACT Ile-Thr 502 Cystic fibrosis Chevalier-Porst (1998) CFTR Locus-specific database Newsletter #7
CM920157 aGAA-CAA Glu-Gln 504 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM972947 aGAA-TAA Glu-Term 504 Cystic fibrosis Casals (1997) CFTR Locus-specific database Newsletter #6
CM950244 ATC-ACC Ile-Thr 506 Cystic fibrosis Desgeorges (1995) Hum Mutat 6 27
CM940254 ATC-AGC Ile-Ser 506 Cystic fibrosis Deufel (1994) Hum Mutat 3, 6
CM940255 ATCa-ATG Ile-Met 506 Cystic fibrosis Chevalier-Porst (1994) J Med Genet 31, 54
CM983555 tATC-CTC Ile-Leu 506 Cystic fibrosis Strandvik (2001) Genet Test 5, 23
CM900047 tATC-GTC Ile-Val 506 Cystic fibrosis ? Kobayashi (1990) Am J Hum Genet 47, 611 possibly ben
CM983556 TTT-TCT Phe-Ser 508 Cystic fibrosis Ferec (1998) CFTR Locus-specific database Pers com
CM900048 TTT-TGT Phe-Cys 508 Cystic fibrosis ? Kobayashi (1990) Am J Hum Genet 47, 611 possibly ben
CM980336 GAT-GGT Asp-Gly 513 Congenital absence of vas deferens Bienvenu (1998) Hum Mutat 12, 21
CM024677 aTAT-CAT Tyr-His 515 Cystic fibrosis Mittre (2002) CFTR Locus-specific database Pers com
CM024678 tAGA-GGA Arg-Gly 516 Cystic fibrosis Arduino (2002) CFTR Locus-specific database Pers com
CM972948 TAC-TGC Tyr-Cys 517 Cystic fibrosis Arduino (1997) CFTR Locus-specific database Newsletter #7
CM941976 cGTC-ATC Val-Ile 520 Cystic fibrosis Bienvenu (2005) Hum Biol 77, 70
CM920158 cGTC-TTC Val-Phe 520 Cystic fibrosis Jones (1992) Hum Mol Genet 1, 1
CM051411 cATC-TTC Ile-Phe 521 Cystic fibrosis Patrinos (2005) CFTR Locus-specific databas
CM920159 TGCc-TGA Cys-Term 524 Cystic fibrosis Jones (1992) Hum Mol Genet 1, 1
CM940256 cCAA-TAA Gln-Term 525 Cystic fibrosis Shackleton (1994) Hum Mutat 3, 14
CM972949 aGAA-CAA Glu-Gln 527 Cystic fibrosis Byrne (1997) CFTR Locus-specific database Newsletter #7
CM990361 GAA-GGA Glu-Gly 527 Hypertrypsinaemia, low sweat chloride Puget (1999) Am J Hum Genet 64, 30
CM074733 GAC-GGC Asp-Gly 529 Cystic fibrosis Brakensiek (2007) CFTR Locus-specific database Unpublished
CM983557 gGAC-CAC Asp-His 529 Cystic fibrosis Ferec (1998) CFTR Locus-specific database Pers com
CM001650 gTTT-CTT Phe-Leu 533 Cystic fibrosis Kambouris (2000) Eur J Pediatr 159, 30
CM930112 GCA-GAA Ala-Glu 534 Cystic fibrosis Audrezet (1993) Hum Mol Genet 2, 5
CM065997 gAAA-TAA Lys-Term 536 Congenital absence of vas deferens Radpour (2006) Mol Hum Reprod 12, 71
CM952051 ATA-ACA Ile-Thr 539 Cystic fibrosis Chomel (1995) CFTR Locus-specific database Newsletter #6
CM900049 tGGA-TGA Gly-Term 542 Cystic fibrosis Kerem (1990) Proc Natl Acad Sci U S A 87, 8447
CM941977 aGGT-AGT Gly-Ser 544 Cystic fibrosis Ferec (1994) CFTR Locus-specific database Newsletter #61
CM970277 GGT-GTT Gly-Val 544 Congenital absence of vas deferens de Meeus (1997) Hum Mutat 11, 48
CM043466 CTG-CAG Leu-Gln 548 Foetal hyperechogenic bowel Yamamoto (2006) Prenat Diagn 26,
CM900050 AGT-AAT Ser-Asn 549 Cystic fibrosis Cutting (1990) Nature 346, 36
CM900051 AGT-ATT Ser-Ile 549 Cystic fibrosis Kerem (1990) Proc Natl Acad Sci U S A 87, 844
CM900052 AGTg-AGG Ser-Arg 549 Cystic fibrosis Kerem (1990) Proc Natl Acad Sci U S A 87, 844
CM910071 gAGT-CGT Ser-Arg 549 Cystic fibrosis Sangiuolo (1991) Genomics 9, 788
CM952052 tGGA-AGA Gly-Arg 550 Cystic fibrosis Ferec (1995) CFTR Locus-specific database Newsletter #6
CM920984 tGGA-TGA Gly-Term 550 Cystic fibrosis Deiman (1992) CFTR Locus-specific database Newsletter #4
CM920160 aGGT-AGT Gly-Ser 551 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM900053 GGT-GAT Gly-Asp 551 Cystic fibrosis Kerem (1990) Proc Natl Acad Sci U S A 87, 8447
CM980337 GGT-GCT Gly-Ala 551 Congenital absence of vas deferens Jarvi (1998) Fertil Steril 70, 72
CM962464 tCAA-AAA Gln-Lys 552 Cystic fibrosis Faucz (1996) CFTR Locus-specific database Newsletter #6
CM910072 tCAA-TAA Gln-Term 552 Cystic fibrosis Devoto (1991) Am J Hum Genet 48, 112
CM931148 aCGA-GGA Arg-Gly 553 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 37
CM900054 aCGA-TGA Arg-Term 553 Cystic fibrosis Cutting (1990) Nature 346, 366
CM920161 CGA-CAA Arg-Gln 553 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM930113 GCA-GAA Ala-Glu 554 Cystic fibrosis Audrezet (1993) Hum Mol Genet 2, 5
CM993859 aAGA-GGA Arg-Gly 555 Cystic fibrosis Zielenski (1999) CFTR Locus-specific database Pers com
CM920985 aATT-GTT Ile-Val 556 Cystic fibrosis ? Ghanem (1992) CFTR Locus-specific database Newsletter #50
CM920162 TTA-TCA Leu-Ser 558 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM900055 aGCA-ACA Ala-Thr 559 Cystic fibrosis Cutting (1990) Nature 346, 36
CM994785 GCA-GAA Ala-Glu 559 Cystic fibrosis Girodon (1999) CFTR Locus-specific database Pers com
CM067759 GCA-GTA Ala-Val 559 Cystic fibrosis Girodon (2006) CFTR Locus-specific database Unpublished
CM024679 aAGA-GGA Arg-Gly 560 Cystic fibrosis Alonso (2006) Ann Hum Genet 71, 194 Ref changed
CM920163 AGA-AAA Arg-Lys 560 Cystic fibrosis Ferec (1992) Nat Genet 1, 18
CM900056 AGA-ACA Arg-Thr 560 Cystic fibrosis Kerem (1990) Proc Natl Acad Sci U S A 87, 8447
CM980338 AGAg-AGC Arg-Ser 560 Cystic fibrosis Malone (1998) Hum Mutat 11, 15
CM992306 AGAg-AGT Arg-Ser 560 Cystic fibrosis Liechti (1999) Eur J Hum Genet 7, 59
CM970278 GCA-GAA Ala-Glu 561 Cystic fibrosis Casals (1997) Hum Genet 101, 36
CM990362 aGTA-ATA Val-Ile 562 Cystic fibrosis Telleria (1999) Hum Mutat 14, 89
CM960279 aGTA-CTA Val-Leu 562 Cystic fibrosis Hughes (1996) Hum Mutat 8, 34
CM900057 aTAC-AAC Tyr-Asn 563 Cystic fibrosis Kerem (1990) Proc Natl Acad Sci U S A 87, 844
CM970279 aTAC-GAC Tyr-Asp 563 Cystic fibrosis Macek (1997) Am J Hum Genet 60, 112
CM962465 TAC-TGC Tyr-Cys 563 Cystic fibrosis Delhaize (1996) CFTR Locus-specific database Newsletter #6
CM063900 TACa-TAA Tyr-Term 563 Cystic fibrosis Elahi (2006) J Mol Diagn 8, 11
CM983666 GAT-GGT Asp-Gly 565 Congenital absence of vas deferens Kanavakis (1998) Mol Hum Reprod 4, 333
CM034786 tGCT-ACT Ala-Thr 566 Cystic fibrosis Wallace (2003) CFTR Locus-specific database Pers com
CM970280 TTG-TAG Leu-Term 568 Cystic fibrosis Macek (1997) Hum Mutat 9, 13
CM970281 TTGt-TTT Leu-Phe 568 Congenital absence of vas deferens Doerk (1997) Hum Genet 100, 36
CM001651 gTAT-CAT Tyr-His 569 Cystic fibrosis Kabra (2000) Am J Med Genet 93, 16
CM980339 gTAT-GAT Tyr-Asp 569 Cystic fibrosis Malone (1998) Hum Mutat 11, 15
CM960280 TAT-TGT Tyr-Cys 569 Cystic fibrosis Petreska (1996) Hum Mutat 7, 37
CM931149 TATt-TAA Tyr-Term 569 Cystic fibrosis Ferec (1993) CFTR Locus-specific database Newsletter #5
CM970282 TTA-TCA Leu-Ser 571 Cystic fibrosis Casals (1997) Hum Genet 101, 36
CM950245 aGAC-AAC Asp-Asn 572 Cystic fibrosis Verlingue (1995) Hum Mutat 5, 20
CM066547 TCT-TGT Ser-Cys 573 Pancreatitis, chronic ? Keiles (2006) Pancreas 33, 221
CM900058 CCT-CAT Pro-His 574 Cystic fibrosis Kerem (1990) Proc Natl Acad Sci U S A 87, 844
CM067770 tCCT-TCT Pro-Ser 574 Congenital absence of vas deferens Baudis (2006) CFTR Locus-specific database Unpublished
CM066548 TTT-TAT Phe-Tyr 575 Pancreatitis, chronic ? Keiles (2006) Pancreas 33, 22
CM920164 GGA-GCA Gly-Ala 576 Congenital absence of vas deferens Anguiano (1992) JAMA 267, 1794
CM962466 tGGA-TGA Gly-Term 576 Cystic fibrosis Girodon (1996) CFTR Locus-specific database Newsletter #6
CM962467 TAC-TTC Tyr-Phe 577 Cystic fibrosis Pagani (2003) Hum Mol Genet 12, 111
CM941978 aGAT-TAT Asp-Tyr 579 Cystic fibrosis Harris (1994) CFTR Locus-specific database Newsletter #6
CM983558 GAT-GCT Asp-Ala 579 Cystic fibrosis Pacheco (1998) CFTR Locus-specific database Newsletter #7
CM950246 GAT-GGT Asp-Gly 579 Cystic fibrosis Brancolini (1995) Hum Genet 96, 31
CM024680 aACA-TCA Thr-Ser 582 Congenital absence of vas deferens Seia (2002) CFTR Locus-specific database Pers com
CM940257 ACA-AGA Thr-Arg 582 Cystic fibrosis Chillon (1994) Hum Genet 93, 44
CM962468 ACA-ATA Thr-Ile 582 Cystic fibrosis des Georges (2004) J Cyst Fibros 3, 265 ref changed
CM920165 aGAA-TAA Glu-Term 585 Cystic fibrosis Cremonesi (1992) Hum Mutat 1, 31
CM067730 aATA-GTA Ile-Val 586 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM043467 aTTT-ATT Phe-Ile 587 Congenital absence of vas deferens Polizzi (2004) CFTR Locus-specific database Pers com
CM055924 GAA-GTA Glu-Val 588 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 28
CM022335 tGAA-TAA Glu-Term 588 Cystic fibrosis Spitzer (2002) Eur Respir J 19, 37
CM056941 AGC-AAC Ser-Asn 589 Cystic fibrosis Stanziale (2005) Genet Test 9, 285 splicing?
CM056942 AGC-ACC Ser-Thr 589 Cystic fibrosis Kinnunen (2005) J Cyst Fibros 4, 233 affects spli
CM074732 CTG-CCG Leu-Pro 594 Cystic fibrosis Omar (2007) CFTR Locus-specific database Unpublished
CM067739 ATG-ACG Met-Thr 595 Cystic fibrosis ? Pasquet (2006) CFTR Locus-specific database Unpublished
CM074730 ATGg-ATA Met-Ile 595 Respiratory symptoms of cystic fibrosis Rana-Díez (2008) J Cyst Fibros 7, 520 ref was LSDB
CM066545 cAAA-GAA Lys-Glu 598 Pancreatitis, chronic ? Keiles (2006) Pancreas 33, 22
CM067741 cAAA-TAA Lys-Term 598 Cystic fibrosis Seia (2006) CFTR Locus-specific database Unpublished
CM972950 tAGG-GGG Arg-Gly 600 Cystic fibrosis Hubert (2004) J Cyst Fibros 3, 1
CM057326 ATT-ACT Ile-Thr 601 Cystic fibrosis Bienvenu (2005) Hum Biol 77, 70
CM980340 gATT-TTT Ile-Phe 601 Cystic fibrosis Vankeerberghen (1998) Hum Mol Genet 7, 176
CM983559 gGTC-TTC Val-Phe 603 Cystic fibrosis Strandvik (2001) Genet Test 5, 23
CM055922 ACT-AGT Thr-Ser 604 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 289 Base change
CM994786 ACT-ATT Thr-Ile 604 Congenital absence of vas deferens Girodon (1999) CFTR Locus-specific database Pers com
CM024233 GAA-GGA Glu-Gly 608 Cystic fibrosis Kilinc (2002) Am J Med Genet 113, 25
CM972951 CAT-CGT His-Arg 609 Cystic fibrosis Padoan (2002) Acta Paediatr 91, 82
CM067750 CAT-CTT His-Leu 609 Cystic fibrosis Petrocchi (2006) CFTR Locus-specific database Unpublished
CM980341 TTA-TCA Leu-Ser 610 Cystic fibrosis Vankeerberghen (1998) Hum Mol Genet 7, 176
CM980342 aGCT-ACT Ala-Thr 613 Cystic fibrosis Vankeerberghen (1998) Hum Mol Genet 7, 176
CM930114 GAC-GGC Asp-Gly 614 Cystic fibrosis Audrezet (1993) Hum Hered 43, 29
CM994787 tGAC-TAC Asp-Tyr 614 Cystic fibrosis Girodon (1999) CFTR Locus-specific database Pers com
CM970283 ATT-ACT Ile-Thr 618 Cystic fibrosis Macek (1997) Am J Hum Genet 60, 112
CM940258 TTG-TCG Leu-Ser 619 Cystic fibrosis Doerk (1994) Hum Genet 94, 53
CM980343 CAT-CCT His-Pro 620 Cystic fibrosis Vankeerberghen (1998) Hum Mol Genet 7, 176
CM980344 CATg-CAG His-Gln 620 Cystic fibrosis Vankeerberghen (1998) Hum Mol Genet 7, 176
CM980345 GGT-GAT Gly-Asp 622 Cystic fibrosis Vankeerberghen (1998) Hum Mol Genet 7, 1761
CM920166 tGGG-AGG Gly-Arg 628 Cystic fibrosis Fanen (1992) Genomics 13, 77
CM931150 tGGG-CGG Gly-Arg 628 Cystic fibrosis Cuppens (1993) Genomics 18, 69
CM067733 aCTC-ATC Leu-Ile 633 Cystic fibrosis Pacheco (2006) CFTR Locus-specific database Unpublished
CM980346 CTC-CCC Leu-Pro 633 Cystic fibrosis Vankeerberghen (1998) Hum Mol Genet 7, 176
CM962764 cCAA-TAA Gln-Term 634 Cystic fibrosis Michel-Calemard (1996) CFTR Locus-specific database Newsletter #6
CM983560 CTA-CCA Leu-Pro 636 Cystic fibrosis Bombieri (1998) CFTR Locus-specific database Newsletter #7
CM993860 aCAG-TAG Gln-Term 637 Cystic fibrosis Hirtz (2004) Gastroenterology 127, 108
CM024681 aGAC-TAC Asp-Tyr 639 Cystic fibrosis Aulehla-Scholz (2002) CFTR Locus-specific database Pers com
CM940259 GAT-GTT Asp-Val 648 Cystic fibrosis Mercier (1994) Hum Genet 94, 629
CM983561 cGAC-AAC Asp-Asn 651 Cystic fibrosis Bombieri (1998) CFTR Locus-specific database Newsletter #7
CM024682 cGAC-CAC Asp-His 651 Obstructive azoospermia Mittre (2002) CFTR Locus-specific database Pers com
CM972952 aGAA-TAA Glu-Term 656 Cystic fibrosis Aznarez (2003) Hum Mol Genet 12, 2031 affects puta
CM067772 tTCA-ACA Ser-Thr 660 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM970284 tGAG-TAG Glu-Term 664 Cystic fibrosis Clavel (1997) Hum Mutat 9, 368
CM960281 gACC-TCC Thr-Ser 665 Cystic fibrosis Messaoud (1996) Eur J Hum Genet 4, 20
CM950247 cCGT-TGT Arg-Cys 668 Cystic fibrosis ? Chillon (1995) N Engl J Med 332, 1475
CM940260 aGGA-TGA Gly-Term 673 Cystic fibrosis Doerk (1994) Hum Genet 94, 53
CM993861 TGG-TAG Trp-Term 679 Cystic fibrosis Walker (1999) CFTR Locus-specific database Pers com
CM003248 AAA-AGA Lys-Arg 683 Cystic fibrosis Chevalier-Porst (2000) CFTR Locus-specific database Pers com
CM940261 aCAA-TAA Gln-Term 685 Cystic fibrosis Audrezet (1994) Hum Genet 93, 65
CM031945 TCT-TAT Ser-Tyr 686 Primary sclerosing cholangitis Sheth (2003) Hum Genet 113, 28
CM067765 tAAA-TAA Lys-Term 688 Cystic fibrosis Gimenez (2006) CFTR Locus-specific database Unpublished
CM034787 aCAG-TAG Gln-Term 689 Cystic fibrosis Girodon (2003) CFTR Locus-specific database Pers com
CM970285 aGAG-TAG Glu-Term 692 Cystic fibrosis Casals (1997) Hum Genet 101, 36
CM930115 gTTT-CTT Phe-Leu 693 Cystic fibrosis Audrezet (1993) Hum Hered 43, 29
CM015356 TTTg-TTG Phe-Leu 693 Asthma Meyer (2001) CFTR Locus-specific database Pers com
CM972953 AAG-AGG Lys-Arg 698 Cystic fibrosis Ferec (1997) CFTR Locus-specific database Newsletter #6
CM950248 aCGA-TGA Arg-Term 709 Cystic fibrosis Bonizzato (1995) Hum Genet 95, 39
CM024683 CGA-CAA Arg-Gln 709 Cystic fibrosis Wagner (2002) CFTR Locus-specific database Pers com
CM920167 aAAA-TAA Lys-Term 710 Cystic fibrosis Fanen (1992) Genomics 13, 77
CM024684 TCC-TGC Ser-Cys 712 Cystic fibrosis Ferec (2002) CFTR Locus-specific database Pers com
CM930116 aAAG-TAG Lys-Term 716 Cystic fibrosis Audrezet (1993) Hum Mol Genet 2, 5
CM940262 TTA-TAA Leu-Term 719 Cystic fibrosis Doerk (1994) Hum Genet 94, 53
CM993862 aCAA-TAA Gln-Term 720 Cystic fibrosis Malone (1999) CFTR Locus-specific database Pers com
CM024685 GGC-GTC Gly-Val 723 Bronchiectasis Ferec (2002) CFTR Locus-specific database Pers com
CM983562 cGAA-AAA Glu-Lys 725 Cystic fibrosis des Georges (2004) J Cyst Fibros 3, 265 ref changed
CM930117 tGAG-TAG Glu-Term 730 Cystic fibrosis Cuppens (1993) Genomics 18, 69
CM970286 TTA-TGA Leu-Term 732 Cystic fibrosis Tzetis (1997) Hum Genet 99, 12
CM015357 AGG-AAG Arg-Lys 735 Cystic fibrosis Frentescu (2008) J Cyst Fibros 7, 423 ref was LSDB
CM043468 TCC-TTC Ser-Phe 737 Pancreatitis Centrone (2004) CFTR Locus-specific database Pers com
CM057581 gGGA-TGA Gly-Term 745 Cystic fibrosis Bienvenu (2005) CFTR Locus-specific database Unpublished
CM000667 CCT-CTT Pro-Leu 750 Cystic fibrosis Orozco (2000) Hum Genet 106, 36
CM024686 CGC-CCC Arg-Pro 751 Cystic fibrosis Ferec (2002) CFTR Locus-specific database Pers com
CM077237 AGCg-AGG Ser-Arg 753 Congenital absence of vas deferens Pieri (2007) Clinics 62, 38
CM000668 cGTG-ATG Val-Met 754 Cystic fibrosis Orozco (2000) Hum Genet 106, 360
CM993863 ACG-ATG Thr-Met 760 Cystic fibrosis Zielenski (1999) CFTR Locus-specific database Pers com
CM960282 aCGA-TGA Arg-Term 764 Cystic fibrosis Hughes (1996) Hum Mutat 8, 34
CM980348 AGG-ATG Arg-Met 766 Congenital absence of vas deferens Vankeerberghen (1998) Hum Mol Genet 7, 176
CM972954 TCA-TGA Ser-Term 776 Cystic fibrosis des Georges (2004) J Cyst Fibros 3, 265 ref changed
CM972955 tCAG-TAG Gln-Term 781 Cystic fibrosis Zhou (1997) CFTR Locus-specific database Newsletter #6
CM023615 AACa-AAA Asn-Lys 782 Cystic fibrosis Girodon (2002) J Hepatol 37, 19
CM941979 cCGA-TGA Arg-Term 785 Cystic fibrosis Frentescu (2008) J Cyst Fibros 7, 423 ref was LSDB
CM067731 ACA-ATA Thr-Ile 788 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM980347 aCGA-GGA Arg-Gly 792 Congenital absence of vas deferens Vankeerberghen (1998) Hum Mol Genet 7, 176
CM930118 aCGA-TGA Arg-Term 792 Cystic fibrosis Claustres (1993) Hum Mol Genet 2, 120
CM950249 GCA-GGA Ala-Gly 800 Cystic fibrosis Mercier (1995) Am J Hum Genet 56, 27
CM004239 GAA-GTA Glu-Val 804 Congenital absence of vas deferens Ravnik-Glavac (2000) Pflugers Arch 439, R5
CM072949 GAT-GGT Asp-Gly 806 Cystic fibrosis Narzi (2007) Clin Genet 72, 3
CM980349 ATAt-ATG Ile-Met 807 Congenital absence of vas deferens Vankeerberghen (1998) Hum Mol Genet 7, 176
CM067767 tATA-GTA Ile-Val 807 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM015358 aAGA-GGA Arg-Gly 810 Congenital absence of vas deferens Sobczynska-Tomaczewsk (2001) CFTR Locus-specific database Pers com
CM024687 aTCT-CCT Ser-Pro 813 Cystic fibrosis Tzetis (2002) CFTR Locus-specific database Pers com
CM035676 tCAA-TAA Gln-Term 814 Cystic fibrosis Ahmed (2003) Gut 52, 115
CM930119 tGAA-AAA Glu-Lys 822 Cystic fibrosis Mercier (1993) Hum Mutat 2, 1
CM970287 tGAA-TAA Glu-Term 822 Cystic fibrosis Tzetis (1997) Hum Genet 99, 121
CM983563 aGAA-TAA Glu-Term 823 Cystic fibrosis Tzetis (1998) CFTR Locus-specific database Newsletter #7
CM980350 cGAA-AAA Glu-Lys 826 Cystic fibrosis Vankeerberghen (1998) Hum Mol Genet 7, 176
CM920168 aGAA-TAA Glu-Term 827 Cystic fibrosis Ferec (1992) Nat Genet 1, 18
CM024688 GAC-GGC Asp-Gly 828 Cystic fibrosis Ferec (2002) CFTR Locus-specific database Pers com
CM930120 aAAG-TAG Lys-Term 830 Cystic fibrosis Mercier (1993) Hum Mutat 2, 1
CM960283 gGAG-TAG Glu-Term 831 Cystic fibrosis Hughes (1996) Hum Mutat 8, 34
CM066549 TTTg-TTG Phe-Leu 834 Pancreatitis, chronic ? Keiles (2006) Pancreas 33, 22
CM920986 tGAT-TAT Asp-Tyr 836 Cystic fibrosis des Georges (2004) J Cyst Fibros 3, 26
CM067736 ATA-ACA Ile-Thr 840 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM004892 CCA-CGA Pro-Arg 841 Congenital absence of vas deferens Kitzis (2000) CFTR Locus-specific database Pers com
CM930121 TGG-TAG Trp-Term 846 Cystic fibrosis Cheadle (1993) Hum Mol Genet 2, 106
CM900059 TGGa-TGA Trp-Term 846 Cystic fibrosis Vidaud (1990) Hum Genet 85, 44
CM994348 TACc-TAG Tyr-Term 849 Cystic fibrosis Castaldo (1999) Hum Mutat 14, 27
CM970288 CGA-CTA Arg-Leu 851 Cystic fibrosis Casals (1997) Hum Genet 101, 36
CM910073 tCGA-TGA Arg-Term 851 Cystic fibrosis White (1991) Genomics 11, 77
CM044595 tATT-TTT Ile-Phe 853 Congenital absence of vas deferens Dayangac (2004) Hum Reprod 19, 109
CM920169 TGC-TAC Cys-Tyr 866 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM962469 TTA-TAA Leu-Term 867 Cystic fibrosis Haworth (1996) CFTR Locus-specific database Newsletter #6
CM962470 TGG-TAG Trp-Term 882 Cystic fibrosis Ferec (1996) CFTR Locus-specific database Newsletter #6
CM983564 CAA-CGA Gln-Arg 890 Cystic fibrosis Casals (2000) Hum Reprod 15, 147
CM920170 tCAA-TAA Gln-Term 890 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM983565 GAC-GGC Asp-Gly 891 Cystic fibrosis Kilinc (1998) CFTR Locus-specific database Newsletter #7
CM004880 AGT-AAT Ser-Asn 895 Cystic fibrosis ? Wu (2000) J Formos Med Assoc 99, 56
CM003249 ACT-ATT Thr-Ile 896 Cystic fibrosis Lazaro (2000) CFTR Locus-specific database Pers com
CM024689 AGCt-AGG Ser-Arg 902 Bronchiectasis Claustres (2002) CFTR Locus-specific database Pers com
CM004462 ACC-AAC Thr-Asn 908 Cystic fibrosis Hammerle (2000) Glycoconj J 17, 80
CM930122 TCG-TAG Ser-Term 912 Cystic fibrosis Saba (1993) Hum Mol Genet 2, 173
CM940263 TCG-TTG Ser-Leu 912 Cystic fibrosis Ghanem (1994) Genomics 21, 43
CM900060 TAT-TGT Tyr-Cys 913 Cystic fibrosis Vidaud (1990) Hum Genet 85, 44
CM055926 TATt-TAA Tyr-Term 913 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 289 Base change
CM063901 TATg-TAA Tyr-Term 914 Cystic fibrosis Kammesheidt (2006) Genet Med 8, 55
CM960284 TAC-TGC Tyr-Cys 917 Cystic fibrosis Hughes (1996) Hum Mutat 8, 34
CM962471 tTAC-GAC Tyr-Asp 917 Cystic fibrosis Schwarz (1996) CFTR Locus-specific database Newsletter #6
CM940264 TAC-TGC Tyr-Cys 919 Cystic fibrosis Savov (1994) Hum Mol Genet 3, 5
CM980351 cGTG-ATG Val-Met 920 Cystic fibrosis Steffann (1998) Annales de Genetique 41, 21
CM043469 cGTG-TTG Val-Leu 920 Congenital absence of vas deferens Girodon (2004) CFTR Locus-specific database Pers com
CM074093 cGAC-AAC Asp-Asn 924 Cystic fibrosis Alonso (2006) Ann Hum Genet 71, 19
CM940265 CTT-CCT Leu-Pro 927 Cystic fibrosis Hermans (1994) Hum Mol Genet 3, 119
CM993864 TTC-TCC Phe-Ser 932 Cystic fibrosis Ferec (1999) CFTR Locus-specific database Pers com
CM970289 AGAg-AGT Arg-Ser 933 Congenital absence of vas deferens Doerk (1997) Hum Genet 100, 36
CM034788 cAGA-GGA Arg-Gly 933 Congenital absence of vas deferens Girodon (2003) CFTR Locus-specific database Pers com
CM970290 GTG-GGG Val-Gly 938 Congenital absence of vas deferens Doerk (1997) Hum Genet 100, 36
CM962472 CAT-CGT His-Arg 939 Cystic fibrosis Ferec (1996) CFTR Locus-specific database Newsletter #6
CM931151 gCAT-GAT His-Asp 939 Cystic fibrosis Ferec (1993) CFTR Locus-specific database Newsletter #5
CM930123 TCG-TTG Ser-Leu 945 Cystic fibrosis Claustres (1993) Hum Mol Genet 2, 120
CM962473 gAAA-TAA Lys-Term 946 Cystic fibrosis Haworth (1996) CFTR Locus-specific database Newsletter #6
CM940266 aCAC-TAC His-Tyr 949 Cystic fibrosis Ghanem (1994) Genomics 21, 43
CM952053 CAC-CGC His-Arg 949 Cystic fibrosis Ferec (1995) CFTR Locus-specific database Newsletter #6
CM055124 CAC-CTC His-Leu 949 Cystic fibrosis ? McGinniss (2005) Hum Genet 118, 33
CM993865 ATG-ACG Met-Thr 952 Cystic fibrosis Casals (2000) Hum Reprod 15, 147
CM980352 ATGt-ATC Met-Ile 952 Cystic fibrosis Onay (1998) Hum Genet 102, 224
CM034789 GCA-GTA Ala-Val 959 Congenital absence of vas deferens Girodon (2003) CFTR Locus-specific database Pers com
CM003250 ATGt-ATT Met-Ile 961 Cystic fibrosis Malone (2000) CFTR Locus-specific database Pers com
CM001652 TTG-TCG Leu-Ser 967 Hypertrypsinaemia, low sweat chloride Boyne (2000) J Med Genet 37, 54
CM067735 aGGT-AGT Gly-Ser 970 Cystic fibrosis Seia (2006) CFTR Locus-specific database Unpublished
CM930124 aGGT-CGT Gly-Arg 970 Cystic fibrosis Cuppens (1993) Genomics 18, 69
CM990363 GGT-GAT Gly-Asp 970 Cystic fibrosis Wagner (1999) Hum Genet 104, 51
CM983566 CTT-CCT Leu-Pro 973 Cystic fibrosis Ferec (1998) CFTR Locus-specific database Pers com
CM960285 cTCC-CCC Ser-Pro 977 Cystic fibrosis Hughes (1996) Hum Mutat 8, 34
CM972956 TCC-TTC Ser-Phe 977 Cystic fibrosis Ferec (1997) CFTR Locus-specific database Newsletter #6
CM970291 GAT-GCT Asp-Ala 979 Congenital absence of vas deferens Doerk (1997) Hum Genet 100, 36
CM970292 GAT-GTT Asp-Val 979 Cystic fibrosis Plouvier (1997) Annales de Genetique 40, 18
CM960286 ATA-AAA Ile-Lys 980 Cystic fibrosis Bienvenu (1996) Hum Mutat 7, 18
CM074729 ATAg-ATG Ile-Met 980 Oligospermia Pasquet (2007) CFTR Locus-specific database Unpublished
CM983567 tGAC-CAC Asp-His 985 Cystic fibrosis Claustres (1998) CFTR Locus-specific database Newsletter #7
CM941980 tGAC-TAC Asp-Tyr 985 Cystic fibrosis Bienvenu (1994) CFTR Locus-specific database Newsletter #6
CM001963 cATA-GTA Ile-Val 991 Sarcoidosis, susceptibility to Bombieri (2000) Eur J Hum Genet 8, 71
CM074734 GAC-GGC Asp-Gly 993 Respiratory symptoms of cystic fibrosis Omar (2007) CFTR Locus-specific database Unpublished
CM962474 tGAC-TAC Asp-Tyr 993 Cystic fibrosis des Georges (2004) J Cyst Fibros 3, 265 ref changed
CM983568 TTC-TGC Phe-Cys 994 Cystic fibrosis Claustres (1998) CFTR Locus-specific database Newsletter #7
CM920171 TTGt-TTC Leu-Phe 997 Congenital absence of vas deferens ? Fanen (1992) Genomics 13, 770
CM003251 tGGA-TGA Gly-Term 1003 Cystic fibrosis Ferec (2000) CFTR Locus-specific database Pers com
CM940267 ATA-AGA Ile-Arg 1005 Cystic fibrosis Doerk (1994) Hum Genet 94, 53
CM950250 GCA-GAA Ala-Glu 1006 Cystic fibrosis Ferec (1995) Mol Cell Probes 9, 13
CM983569 GTC-GAC Val-Asp 1008 Cystic fibrosis Alonso (2006) Ann Hum Genet 71, 194 Ref changed
CM003252 cGCA-ACA Ala-Thr 1009 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 28
CM034790 CCC-CAC Pro-His 1013 Pancreatitis Bieth (2003) CFTR Locus-specific database Pers com
CM980353 CCC-CTC Pro-Leu 1013 Cystic fibrosis Onay (1998) Hum Genet 102, 22
CM983570 TAC-TGC Tyr-Cys 1014 Cystic fibrosis Casals (2000) Hum Reprod 15, 147
CM042689 TTT-TCT Phe-Ser 1016 Cystic fibrosis Alper (2004) Hum Mutat 24, 35
CM067764 GTG-GAG Val-Glu 1020 Cystic fibrosis Girodon (2006) CFTR Locus-specific database Unpublished
CM024690 gCCA-GCA Pro-Ala 1021 Cystic fibrosis Tzetis (2002) CFTR Locus-specific database Pers com
CM972957 gCCA-TCA Pro-Ser 1021 Congenital absence of vas deferens Casals (2000) Hum Reprod 15, 147
CM043470 GCT-GAT Ala-Asp 1025 Hypochloraemic alkalosis Schrijver (2004) CFTR Locus-specific database Pers com
CM960287 ATT-ACT Ile-Thr 1027 Cystic fibrosis Hughes (1996) Hum Mutat 8, 34
CM003253 ATG-AGG Met-Arg 1028 Cystic fibrosis Lazaro (2000) CFTR Locus-specific database Pers com
CM980354 ATGt-ATT Met-Ile 1028 Cystic fibrosis Onay (1998) Hum Genet 102, 22
CM043471 aTAT-AAT Tyr-Asn 1032 Cystic fibrosis Seia (2004) CFTR Locus-specific database Pers com
CM970293 TAT-TGT Tyr-Cys 1032 Congenital absence of vas deferens Doerk (1997) Hum Genet 100, 36
CM043472 cCAA-TAA Gln-Term 1035 Cystic fibrosis Bogdanova (2004) CFTR Locus-specific database Pers com
CM055121 ACC-AAC Thr-Asn 1036 Cystic fibrosis McGinniss (2005) Hum Genet 118, 33
CM983571 aCAA-TAA Gln-Term 1042 Cystic fibrosis Ferec (1998) CFTR Locus-specific database Pers com
CM056563 CTG-CGG Leu-Arg 1043 Cystic fibrosis Messaoud (2005) Ann Biol Clin (Paris) 63, 62
CM024691 aGGC-CGC Gly-Arg 1047 Cystic fibrosis Ferec (2002) CFTR Locus-specific database Pers com
CM067746 cAGG-GGG Arg-Gly 1048 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM043473 aATT-GTT Ile-Val 1051 Cystic fibrosis Pasquet (2004) CFTR Locus-specific database Pers com
CM930125 tTTC-GTC Phe-Val 1052 Cystic fibrosis Mercier (1993) Genomics 16, 296
CM983572 ACT-ATT Thr-Ile 1053 Cystic fibrosis Bienvenu (1998) CFTR Locus-specific database Pers com
CM067749 CAT-CGT His-Arg 1054 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM067751 CAT-CTT His-Leu 1054 Cystic fibrosis ? Pacheco (2006) CFTR Locus-specific database Unpublished
CM940268 tCAT-GAT His-Asp 1054 Cystic fibrosis Mercier (1994) J Med Genet 31, 73
CM003805 tCTT-ATT Leu-Ile 1055 Congenital absence of vas deferens Zeng (2000) Zhonghua Yi Xue Yi Chuan Xue Za Zhi 17, 24
CM962475 tACA-GCA Thr-Ala 1057 Cystic fibrosis Fiorentino (2005) Hum Reprod 21, 67
CM940269 TTA-TGA Leu-Term 1059 Cystic fibrosis Doerk (1994) Hum Genet 94, 53
CM950251 AAA-ACA Lys-Thr 1060 Cystic fibrosis Casals (1995) Hum Genet 95, 20
CM960288 aGGA-AGA Gly-Arg 1061 Cystic fibrosis Bienvenu (1996) Hum Mutat 7, 37
CM930126 aGGA-CGA Gly-Arg 1061 Cystic fibrosis Mercier (1993) Genomics 16, 29
CM920172 TGGa-TGA Trp-Term 1063 Cystic fibrosis Fanen (1992) Genomics 13, 77
CM984227 aCTT-TTT Leu-Phe 1065 Cystic fibrosis Tzetis (1998) CFTR Locus-specific database Newsletter #7
CM920173 CTT-CCT Leu-Pro 1065 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM980355 CTT-CGT Leu-Arg 1065 Cystic fibrosis Casals (1998) Hum Mutat S1, S9
CM920174 CGT-CAT Arg-His 1066 Cystic fibrosis Ferec (1992) Nat Genet 1, 18
CM930127 CGT-CTT Arg-Leu 1066 Cystic fibrosis Mercier (1993) Genomics 16, 29
CM952054 tCGT-AGT Arg-Ser 1066 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 37
CM920175 tCGT-TGT Arg-Cys 1066 Cystic fibrosis Fanen (1992) Genomics 13, 77
CM994788 GCC-GAC Ala-Asp 1067 Cystic fibrosis Girodon (1999) CFTR Locus-specific database Pers com
CM950252 GCC-GTC Ala-Val 1067 Cystic fibrosis Jezequel (1995) Clin Chem 41, 83
CM920176 tGCC-ACC Ala-Thr 1067 Cystic fibrosis Ferec (1992) Nat Genet 1, 18
CM074736 tGCC-CCC Ala-Pro 1067 Congenital absence of vas deferens Omar (2007) CFTR Locus-specific database Unpublished
CM940270 cGGA-AGA Gly-Arg 1069 Cystic fibrosis Savov (1994) Hum Mol Genet 3, 5
CM950253 aCGG-TGG Arg-Trp 1070 Cystic fibrosis Jezequel (1995) Clin Chem 41, 833
CM930128 CGG-CAG Arg-Gln 1070 Cystic fibrosis Mercier (1993) Genomics 16, 296
CM970294 CGG-CCG Arg-Pro 1070 Cystic fibrosis Shrimpton (1997) Hum Mutat 10, 43
CM940271 CAG-CCG Gln-Pro 1071 Cystic fibrosis Ghanem (1994) Genomics 21, 43
CM003254 CAGc-CAT Gln-His 1071 Cystic fibrosis Claustres (2000) CFTR Locus-specific database Pers com
CM034791 gCAG-TAG Gln-Term 1071 Congenital absence of vas deferens Girodon (2003) CFTR Locus-specific database Pers com
CM983573 CCT-CTT Pro-Leu 1072 Cystic fibrosis Bombieri (1998) CFTR Locus-specific database Newsletter #7
CM024692 TAC-TGC Tyr-Cys 1073 Hypertrypsinaemia, neonatal Seia (2002) CFTR Locus-specific database Pers com
CM970295 TTTg-TTA Phe-Leu 1074 Cystic fibrosis Casals (1997) Hum Genet 101, 36
CM920177 CTG-CCG Leu-Pro 1077 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM057573 CAC-CCC His-Pro 1079 Cystic fibrosis Wang (2005) CFTR Locus-specific database Unpublished
CM015359 aGCT-CCT Ala-Pro 1081 Congenital absence of vas deferens Ngukam (2004) J Trop Pediatr 50, 23
CM930129 CAT-CGT His-Arg 1085 Cystic fibrosis Mercier (1993) Genomics 16, 29
CM962476 ACT-ATT Thr-Ile 1086 Cystic fibrosis Bienvenu (1996) CFTR Locus-specific database Newsletter #6
CM034792 tACT-GCT Thr-Ala 1086 Cystic fibrosis Girodon (2003) CFTR Locus-specific database Pers com
CM053174 tGCC-CCC Ala-Pro 1087 Pancreatitis Weiss (2005) Gut 54, 1456
CM983574 cAAC-GAC Asn-Asp 1088 Cystic fibrosis Strandvik (2001) Genet Test 5, 23
CM950254 cTGG-CGG Trp-Arg 1089 Cystic fibrosis Zielenski (1995) Hum Mutat 5, 4
CM920178 TGG-TAG Trp-Term 1089 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM972958 gTAC-CAC Tyr-His 1092 Cystic fibrosis Egan (1997) CFTR Locus-specific database Newsletter #6
HM030019 TAC-TGC Tyr-Cys 1092 Cystic fibrosis ? Trujillo-Tiebas (2004) Hum Genet 114 40
CM920179 TACc-TAA Tyr-Term 1092 Cystic fibrosis Tsui (1992) Hum Mutat 1, 197 aka 3408 C>A
CM941981 TACc-TAG Tyr-Term 1092 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 37
CM993438 CTG-CCG Leu-Pro 1093 Cystic fibrosis Yee (1999) Hum Mutat 15, 20
CM983575 CTG-CGG Leu-Arg 1096 Cystic fibrosis Claustres (1998) CFTR Locus-specific database Pers com
CM056307 cTGG-CGG Trp-Arg 1098 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 37
CM940272 TGG-TAG Trp-Term 1098 Cystic fibrosis Chillon (1994) Hum Genet 93, 44
CM074737 TGG-TTG Trp-Leu 1098 Cystic fibrosis Brakensiek (2007) CFTR Locus-specific database Unpublished
CM962477 TGGt-TGA Trp-Term 1098 Cystic fibrosis Michel-Calemard (1996) CFTR Locus-specific database Newsletter #6
CM000669 TGGt-TGT Trp-Cys 1098 Cystic fibrosis Orozco (2000) Hum Genet 106, 36
CM055127 TTCc-TTA Phe-Leu 1099 Cystic fibrosis McGinniss (2005) Hum Genet 118, 33
CM940273 CAA-CCA Gln-Pro 1100 Cystic fibrosis Chillon (1994) Hum Genet 93, 44
CM930130 ATG-AAG Met-Lys 1101 Cystic fibrosis Zielenski (1993) Am J Hum Genet 52, 60
CM930131 ATG-AGG Met-Arg 1101 Cystic fibrosis Mercier (1993) Genomics 16, 29
CM043474 gAGA-TGA Arg-Term 1102 Cystic fibrosis Claustres (2004) CFTR Locus-specific database Pers com
CM950255 aGAA-TAA Glu-Term 1104 Cystic fibrosis Zielenski (1995) Hum Mutat 5, 4
CM031656 ATG-AGG Met-Arg 1105 Cystic fibrosis Scotet (2003) Hum Mutat 22, 10
CM071597 tGTC-CTC Val-Leu 1108 Congenital absence of vas deferens Grangeia (2007) Genet Med 9, 16
CM993866 TCC-TGC Ser-Cys 1118 Cystic fibrosis Zielenski (1999) CFTR Locus-specific database Pers com
CM983576 TCC-TTC Ser-Phe 1118 Cystic fibrosis Ferec (1998) CFTR Locus-specific database Pers comm
CM960289 aGGA-CGA Gly-Arg 1123 Cystic fibrosis Hughes (1996) Hum Mutat 8, 34
CM941982 GGA-GAA Gly-Glu 1127 Cystic fibrosis Bienvenu (1994) CFTR Locus-specific database Newsletter #63
CM962478 aAGA-TGA Arg-Term 1128 Cystic fibrosis Ghanem (1996) CFTR Locus-specific database Newsletter #6
CM024693 GTT-GGT Val-Gly 1129 Cystic fibrosis ? Claustres (2002) CFTR Locus-specific database Pers com
CM015360 GGT-GCT Gly-Ala 1130 Congenital absence of vas deferens Dayangac (2004) Hum Reprod 19, 109
CM993867 tATT-GTT Ile-Val 1131 Cystic fibrosis Giorgi (1999) CFTR Locus-specific database Pers com
CM003255 aGCC-ACC Ala-Thr 1136 Cystic fibrosis Ferec (2000) CFTR Locus-specific database Pers com
CM067740 ATG-ACG Met-Thr 1137 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM952055 ATG-AGG Met-Arg 1137 Cystic fibrosis Hirtz (2004) Gastroenterology 127, 108
CM931152 cATG-GTG Met-Val 1137 Cystic fibrosis Zielenski (1993) CFTR Locus-specific database Newsletter #5
CM940274 tATC-GTC Ile-Val 1139 Cystic fibrosis Teng (1994) Hum Mol Genet 3, 2249
CM983577 ATG-AAG Met-Lys 1140 Cystic fibrosis Ferec (1998) CFTR Locus-specific database Pers com
CM004893 ACA-ATA Thr-Ile 1142 Asthma Lazaro (2000) CFTR Locus-specific database Pers com
CM962479 gCAG-TAG Gln-Term 1144 Cystic fibrosis Schwarz (1996) CFTR Locus-specific database Newsletter #6
CM003256 TGGg-TGA Trp-Term 1145 Cystic fibrosis Seia (2000) CFTR Locus-specific database Pers com
CM983578 tGTA-ATA Val-Ile 1147 Cystic fibrosis Kilinc (2002) Am J Med Genet 113, 25
CM003257 AACt-AAA Asn-Lys 1148 Cystic fibrosis Casals (2000) CFTR Locus-specific database Pers com
CM950256 aGAT-CAT Asp-His 1152 Cystic fibrosis ? Chillon (1995) N Engl J Med 332, 1475
CM970296 GTG-GAG Val-Glu 1153 Congenital absence of vas deferens Doerk (1997) Hum Genet 100, 36
CM941983 GAT-GGT Asp-Gly 1154 Congenital absence of vas deferens Costes (1994) CFTR Locus-specific database Newsletter #6
CM920180 gCGA-TGA Arg-Term 1158 Cystic fibrosis Ronchetto (1992) Genomics 12, 41
CM931153 aTCT-CCT Ser-Pro 1159 Cystic fibrosis Macek (1993) CFTR Locus-specific database Newsletter #5
CM993868 TCT-TTT Ser-Phe 1159 Cystic fibrosis Hirtz (2004) Gastroenterology 127, 108
CM011285 AGCc-AGG Ser-Arg 1161 Cystic fibrosis Le Maréchal (2001) Hum Genet 108, 29
CM910074 cCGA-TGA Arg-Term 1162 Cystic fibrosis Gasparini (1991) Genomics 10, 19
CM014892 CGA-CAA Arg-Gln 1162 Cystic fibrosis Strandvik (2001) Genet Test 5, 23
CM021555 CGA-CTA Arg-Leu 1162 Cystic fibrosis ? Groman (2002) N Engl J Med 347, 40
CM034793 TTC-TGC Phe-Cys 1166 Cystic fibrosis Messaoud (2005) Ann Biol Clin (Paris) 63, 62
CM931154 GAC-GGC Asp-Gly 1168 Cystic fibrosis Macek (1993) CFTR Locus-specific database Newsletter #5
CM941984 AAG-AGG Lys-Arg 1177 Cystic fibrosis Baralle (1994) CFTR Locus-specific database Newsletter #6
CM001653 cAAG-TAG Lys-Term 1177 Cystic fibrosis Banjar (1999) Ann Trop Paediatr 19, 6
CM941985 TACa-TAG Tyr-Term 1182 Cystic fibrosis Wallace (1994) CFTR Locus-specific database Newsletter #6
CM962480 cCAA-TAA Gln-Term 1186 Cystic fibrosis Haworth (1996) CFTR Locus-specific database Newsletter #6
CM941986 GTT-GAT Val-Asp 1190 Cystic fibrosis Glavac (1994) CFTR Locus-specific database Newsletter #6
CM024694 AAT-ACT Asn-Thr 1195 Cystic fibrosis Savov (2002) CFTR Locus-specific database Pers com
CM930132 TCA-TGA Ser-Term 1196 Cystic fibrosis Ivaschenko (1993) Hum Genet 91, 6
CM920181 gAAA-GAA Lys-Glu 1200 Cystic fibrosis Fanen (1992) Genomics 13, 77
CM920182 cATC-GTC Ile-Val 1203 Cystic fibrosis Cutting (1992) Am J Hum Genet 50, 118
CM920183 TGG-TAG Trp-Term 1204 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM067771 TGGc-TGA Trp-Term 1204 Cystic fibrosis Schrijver (2006) CFTR Locus-specific database Unpublished
CM962481 TCA-TGA Ser-Term 1206 Cystic fibrosis Ferec (1996) CFTR Locus-specific database Newsletter #6
CM043475 ATG-AAG Met-Lys 1210 Cystic fibrosis Seia (2004) CFTR Locus-specific database Pers com
CM931155 ATGa-ATA Met-Ile 1210 Cystic fibrosis Nukiwa (1993) CFTR Locus-specific database Newsletter #5
CM931156 tGTC-ATC Val-Ile 1212 Cystic fibrosis Macek (1993) CFTR Locus-specific database Newsletter #5
CM032556 ATA-AGA Ile-Arg 1226 Cystic fibrosis Korytina (2003) Mol Biol (Mosk) 37, 6
CM972959 TTA-TCA Leu-Ser 1227 Cystic fibrosis Jezequel (2000) Mol Hum Reprod 6, 1063
CM003258 GAG-GGG Glu-Gly 1228 Bronchiectasis Ninis (2003) J Med Genet 40, 53
CM972960 ATT-ACT Ile-Thr 1230 Cystic fibrosis Claustres (1997) CFTR Locus-specific database Newsletter #6
CM920184 aATA-GTA Ile-Val 1234 Cystic fibrosis Claustres (1992) Hum Mutat 1, 31
CM930133 AGTc-AGG Ser-Arg 1235 Cystic fibrosis Cuppens (1993) Genomics 18, 693
CM003259 tGGC-AGC Gly-Ser 1237 Cystic fibrosis Casals (2000) CFTR Locus-specific database Pers com
CM931157 CAG-CGG Gln-Arg 1238 Cystic fibrosis Ferec (1993) CFTR Locus-specific database Newsletter #5
CM930134 cCAG-TAG Gln-Term 1238 Cystic fibrosis Audrezet (1993) Hum Mol Genet 2, 5
CM993869 GTG-GGG Val-Gly 1240 Cystic fibrosis Zielenski (1999) CFTR Locus-specific database Pers com
CM910075 GGA-GAA Gly-Glu 1244 Cystic fibrosis Devoto (1991) Am J Hum Genet 48, 112
CM940275 GGA-GTA Gly-Val 1244 Cystic fibrosis Savov (1994) Hum Mol Genet 3, 51
CM057580 gGGA-AGA Gly-Arg 1244 Cystic fibrosis Lucarelli (2005) CFTR Locus-specific database Unpublished
CM941987 ACT-ATT Thr-Ile 1246 Cystic fibrosis ? Ferec (1994) CFTR Locus-specific database Newsletter #6
CM962482 tGGA-AGA Gly-Arg 1247 Cystic fibrosis Casals (1996) CFTR Locus-specific database Newsletter #6
CM057584 tGGA-CGA Gly-Arg 1247 Cystic fibrosis Lucarelli (2005) CFTR Locus-specific database Unpublished
CM940277 aGGG-AGG Gly-Arg 1249 Cystic fibrosis Dijkstra (1994) Hum Mutat 4, 16
CM940276 GGG-GAG Gly-Glu 1249 Cystic fibrosis Greil (1994) Hum Hered 44, 23
CM920185 AGT-AAT Ser-Asn 1251 Cystic fibrosis Kaelin (1992) Hum Mutat 1, 20
CM962483 tACT-CCT Thr-Pro 1252 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 37
CM960290 TTA-TAA Leu-Term 1254 Cystic fibrosis Hughes (1996) Hum Mutat 8, 34
CM920187 aTCA-CCA Ser-Pro 1255 Cystic fibrosis Lissens (1992) Hum Mol Genet 1, 44
CM920186 TCA-TAA Ser-Term 1255 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM980356 TCA-TTA Ser-Leu 1255 Cystic fibrosis Cartault (1998) Clin Genet 54, 43
CM983579 TTTt-TTG Phe-Leu 1257 Cystic fibrosis Ferec (1998) CFTR Locus-specific database Pers com
CM066546 CTA-CCA Leu-Pro 1260 Pancreatitis, chronic ? Keiles (2006) Pancreas 33, 22
CM024695 CTA-CGA Leu-Arg 1260 Cystic fibrosis Seia (2002) CFTR Locus-specific database Pers com
CM043476 ACT-ATT Thr-Ile 1263 Asthma Seia (2004) CFTR Locus-specific database Pers com
CM067742 cACT-GCT Thr-Ala 1263 Azoospermia Picci (2006) CFTR Locus-specific database Unpublished
CM067743 CAG-CGG Gln-Arg 1268 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM952056 ATC-AAC Ile-Asn 1269 Cystic fibrosis McDowell (1995) CFTR Locus-specific database Newsletter #6
CM920188 cGAT-AAT Asp-Asn 1270 Cystic fibrosis ? Tsui (1992) Hum Mutat 1, 197
CM057575 cGAT-TAT Asp-Tyr 1270 Cystic fibrosis ? Wang (2005) CFTR Locus-specific database Unpublished
CM993870 TGGg-TGA Trp-Term 1274 Cystic fibrosis Zielenski (1999) CFTR Locus-specific database Pers com
CM970297 aCAG-TAG Gln-Term 1281 Cystic fibrosis Casals (1997) Hum Genet 101, 36
CM930135 gTGG-CGG Trp-Arg 1282 Cystic fibrosis Ivaschenko (1993) Hum Genet 91, 6
CM962485 gTGG-GGG Trp-Gly 1282 Cystic fibrosis Faucz (2007) Clin Genet 72, 21
CM900061 TGGa-TGA Trp-Term 1282 Cystic fibrosis Kerem (1990) Proc Natl Acad Sci U S A 87, 8447
CM962484 TGGa-TGT Trp-Cys 1282 Cystic fibrosis Ferec (1996) CFTR Locus-specific database Newsletter #6
CM940278 AGG-AAG Arg-Lys 1283 Cystic fibrosis Chevalier-Porst (1994) J Med Genet 31, 54
CM920189 AGG-ATG Arg-Met 1283 Cystic fibrosis Cheadle (1992) Hum Mol Genet 1, 12
CM930136 TTT-TCT Phe-Ser 1286 Cystic fibrosis Dorval (1993) Hum Genet 91, 25
CM055928 tGGA-AGA Gly-Arg 1287 Cystic fibrosis ? Chou (2005) J Mol Diagn 7, 111 unknown path
CM067732 aCCA-ACA Pro-Thr 1290 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM055122 aCCA-TCA Pro-Ser 1290 Congenital absence of vas deferens Grangeia (2005) Fertil Steril 83, 44
CM003260 aCAG-TAG Gln-Term 1291 Cystic fibrosis Feldmann (2001) Hum Mutat 17, 35
CM940279 CAG-CGG Gln-Arg 1291 Cystic fibrosis Doerk (1994) Hum Genet 94, 53
CM920190 CAGa-CAC Gln-His 1291 Cystic fibrosis Jones (1992) Hum Mol Genet 1, 1
CM972961 aGTA-ATA Val-Ile 1293 Cystic fibrosis Ferec (1997) CFTR Locus-specific database Newsletter #6
CM992307 ACA-ATA Thr-Ile 1299 Cystic fibrosis Liechti (1999) Eur J Hum Genet 7, 59
CM962486 aTTT-CTT Phe-Leu 1300 Cystic fibrosis Poncin (1996) CFTR Locus-specific database Newsletter #6
CM920191 aAAC-CAC Asn-His 1303 Cystic fibrosis Claustres (1992) Hum Mutat 1, 31
CM952057 AAC-ATC Asn-Ile 1303 Cystic fibrosis Lissens (1995) CFTR Locus-specific database Newsletter #6
CM910076 AACt-AAG Asn-Lys 1303 Cystic fibrosis Osborne (1991) Am J Hum Genet 48, 608
CM972962 GATc-GAA Asp-Glu 1305 Cystic fibrosis Claustres (1997) CFTR Locus-specific database Newsletter #6
CM034794 TAT-TGT Tyr-Cys 1307 Congenital absence of vas deferens Casals (2003) CFTR Locus-specific database Pers com
CM993871 TATg-TAA Tyr-Term 1307 Cystic fibrosis Zielenski (1999) CFTR Locus-specific database Pers com
CM972963 tGAA-TAA Glu-Term 1308 Cystic fibrosis Alonso (2006) Ann Hum Genet 71, 194 Ref changed
CM067747 CAGt-CAT Gln-His 1309 Congenital absence of vas deferens Girodon (2006) CFTR Locus-specific database Unpublished . in cis with
CM920192 TGG-TAG Trp-Term 1310 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM962487 tCAA-AAA Gln-Lys 1313 Cystic fibrosis Malone (1996) CFTR Locus-specific database Newsletter #6
CM930137 tCAA-TAA Gln-Term 1313 Cystic fibrosis Audrezet (1993) Hum Mol Genet 2, 5
CM900062 TGG-TAG Trp-Term 1316 Cystic fibrosis Cutting (1990) N Engl J Med 323, 168
CM983580 GTT-GCT Val-Ala 1318 Cystic fibrosis Ferec (1998) CFTR Locus-specific database Pers com
CM941988 tGAG-CAG Glu-Gln 1321 Cystic fibrosis Ferec (1994) CFTR Locus-specific database Newsletter #6
CM043477 CTC-CCC Leu-Pro 1324 Cystic fibrosis Bienvenu (2005) Hum Biol 77, 70
CM972964 CTT-CCT Leu-Pro 1335 Cystic fibrosis Zielenski (1997) CFTR Locus-specific database Newsletter #7
CM067762 gCTT-TTT Leu-Phe 1335 Cystic fibrosis Picci (2006) CFTR Locus-specific database Unpublished
CM973398 cTTT-GTT Phe-Val 1337 Congenital absence of vas deferens Scheffer (1997) CFTR Locus-specific database Newsletter #7
CM994789 cCTT-TTT Leu-Phe 1339 Congenital absence of vas deferens Girodon (1999) CFTR Locus-specific database Pers com
CM920193 GGC-GAC Gly-Asp 1349 Cystic fibrosis Tsui (1992) Hum Mutat 1, 19
CM993872 tGGC-AGC Gly-Ser 1349 Cystic fibrosis Yoshimura (1999) CFTR Locus-specific database Pers com
CM970298 cAAG-GAG Lys-Glu 1351 Congenital absence of vas deferens Doerk (1997) Hum Genet 100, 36
CM931158 CAGt-CAC Gln-His 1352 Cystic fibrosis Lee (2005) Dig Dis Sci 50, 1852
CM067760 gCAG-GAG Gln-Glu 1352 Cystic fibrosis ? Picci (2006) CFTR Locus-specific database Unpublished
CM993873 AGAt-AGT Arg-Ser 1358 Cystic fibrosis Ferec (1999) CFTR Locus-specific database Pers com
CM970299 GCG-GTG Ala-Val 1364 Congenital absence of vas deferens de Meeus (1997) Hum Mutat 11, 48
CM993874 ATC-ACC Ile-Thr 1366 Cystic fibrosis Ferec (1999) CFTR Locus-specific database Pers com
CM031946 gATC-TTC Ile-Phe 1366 Primary sclerosing cholangitis Sheth (2003) Hum Genet 113, 28
CM920194 tGAA-TAA Glu-Term 1371 Cystic fibrosis Cutting (1992) Am J Hum Genet 50, 118
CM034795 aCCC-ACC Pro-Thr 1372 Bronchiectasis Girodon (2003) CFTR Locus-specific database Pers com
CM055923 CCC-CTC Pro-Leu 1372 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 28
CM057574 CAT-CCT His-Pro 1375 Cystic fibrosis Narzi (2005) CFTR Locus-specific database Unpublished
CM950257 gGAT-CAT Asp-His 1377 Congenital absence of vas deferens Costes (1995) Eur J Hum Genet 3, 28
CM067737 aTAC-CAC Tyr-His 1381 Cystic fibrosis Sharma (2009) Ann Hum Genet 73, 2
CM024696 TACc-TAA Tyr-Term 1381 Cystic fibrosis Casals (2002) CFTR Locus-specific database Pers com
CM983581 cCAA-TAA Gln-Term 1382 Cystic fibrosis Claustres (1998) CFTR Locus-specific database Newsletter #7
CM970300 CTA-CAA Leu-Gln 1388 Congenital absence of vas deferens Doerk (1997) Hum Genet 100, 36
CM940280 GTA-GAA Val-Glu 1397 Cystic fibrosis Petreska (1994) Hum Mol Genet 3, 99
CM057572 ATT-AGT Ile-Ser 1398 Cystic fibrosis Wang (2005) CFTR Locus-specific database Unpublished
CM024697 GAA-GCA Glu-Ala 1401 Cystic fibrosis Valaskova (2002) CFTR Locus-specific database Pers com
CM067755 GAA-GGA Glu-Gly 1401 Congenital absence of vas deferens Girodon (2006) CFTR Locus-specific database Unpublished
CM071596 tGAA-AAA Glu-Lys 1401 Congenital absence of vas deferens Grangeia (2007) Genet Med 9, 16
CM983582 tGAA-TAA Glu-Term 1401 Cystic fibrosis Strandvik (2001) Genet Test 5, 23
CM043478 ATG-ACG Met-Thr 1407 Cystic fibrosis ? Girodon (2004) CFTR Locus-specific database Pers com
CM931159 GAA-GTA Glu-Val 1409 Cystic fibrosis Claustres (1993) CFTR Locus-specific database Newsletter #5
CM034796 gGAA-AAA Glu-Lys 1409 Congenital absence of vas deferens Alonso (2003) CFTR Locus-specific database Pers com
CM931253 cCAA-TAA Gln-Term 1411 Congenital absence of vas deferens Costes (1993) CFTR Locus-specific database Newsletter #5
CM960291 aCAA-TAA Gln-Term 1412 Cystic fibrosis Hughes (1996) Hum Mutat 8, 34
CM067773 TTG-TCG Leu-Ser 1414 Congenital absence of vas deferens Picci (2006) CFTR Locus-specific database Unpublished
CM043479 aGAG-TAG Glu-Term 1418 Cystic fibrosis Girodon (2004) CFTR Locus-specific database Pers com
CM972965 gCGG-TGG Arg-Trp 1422 Cystic fibrosis Claustres (1997) CFTR Locus-specific database Newsletter #7
CM024698 TCC-TTC Ser-Phe 1426 Obstructive azoospermia Casals (2002) CFTR Locus-specific database Pers com
CM993875 tTCC-CCC Ser-Pro 1426 Cystic fibrosis Ferec (1999) CFTR Locus-specific database Pers com
CM043480 cCGG-TGG Arg-Trp 1438 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 28
CM962488 cGAC-AAC Asp-Asn 1445 Cystic fibrosis Schrijver (2005) J Mol Diagn 7, 28
CM993876 cCGG-TGG Arg-Trp 1453 Cystic fibrosis ? Yoshimura (1999) CFTR Locus-specific database Pers com
CM980357 TCA-TGA Ser-Term 1455 Elevated sweat chloride concentration Mickle (1998) Hum Mol Genet 7, 72
CM034797 aGAA-TAA Glu-Term 1473 Congenital absence of vas deferens Girodon (2003) CFTR Locus-specific database Pers com
CM993877 gCAA-TAA Gln-Term 1476 Cystic fibrosis Claustres (1999) CFTR Locus-specific database Pers com
CM067753 CTT-CCT Leu-Pro 1480 Cystic fibrosis Picci (2006) CFTR Locus-specific database Unpublished
CM031947 TAG-TGG Term-Trp 1481 Cystic fibrosis Bienvenu (2003) Clin Genet 64, 26
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