Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
R851L	G->T at 2684	14a	Arg->Leu at 851	IRO, Spain	Casals T, Ramos M D, Gimenez J, Nunes V, Estivill X (May 14, 1996)
Note: (R851L)The above mutation was detected by DGGE and direct sequencing. It was detected in a CF carrier father who had 2 children, both died of CF. The maternal mutation is unknown. Contact: Teresa Casals

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
Q1186X	C->T at 3688	19	Gln->Stop codon at 1186	Royal Manchester Children's Hospital, England.	Haworth A, Schwarz M, Malone G (Jun 10, 1996)
K946X	A->T at 2968	15	Lys->Stop at 946	As above	As above
3028delA	deletion of A at 3028	15	frameshift	As above	Malone G, Haworth A, Schwarz M (Jun 10, 1996)
Y917D	T->G at 2881	15	Tyr->Asp at 917	As above	Schwarz M, Malone G, Haworth A (Jun 10, 1996)
Note: (Q1186X)The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy whose other CF mutation was [delta]F508. The patient was referred by Wessex Regional Genetics Laboratory for rare mutation testing. We have seen it only once in over 150 non-[delta]F508 chromosomes tested. (K946X)The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy whose other (paternal) CF mutation is still unknown. He is of (very) mixed parentage, his maternal grandparents being Mexican/American Indian and French/English. We have seen K946X only once, in this family referred by the South West Thames Regional Genetics Service. (3028delA)The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy (deceased) whose other CF mutation was [delta]F508. We have seen this mutation only once in 120 samples tested. It gives a stop codon at 967. (Y917D)The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy (deceased) whose other CF mutation was [delta]F508. We have seen it only once in 120 samples tested. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1716-1G->A	G->A at 1716-1	intron 10	splicing mutation	Laboratory of Molecular Pathology, Sofia, Bulgaria.	Jordanova A, Savov A, Angelicheva D, Kremensky I (Jun 20, 1996)
Note: (1716-1G->A)The mutation is found in a Bulgarian CF patient, who has pancreatic sufficiency and mild pulmonary involvement. The other mutation of the patient is [Delta]F508. Contact: Albena Jordanova

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3622insT	insertion of T after 3622	19	frameshift	Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Regional Molecular Genetics Lab, St Mary's Hospital, Manchester, UK.	Kabra M, Wallace AJ, Kabra SK, Ghosh M, Verma IC (Jun 21, 1996)
3601-20T->C	T->C at 3601-20	intron 18	mRNA splicing mutant?	Genetic Unit, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India. Regional Molecular Genetics Lab, St Mary's Hospital, Manchester, UK.	As above
T1252P	A->C at 3886	20	Thr->Pro at 1252	Regional Molecular Genetics Lab, St Mary's Hospital, Manchester, UK.	Wallace AJ (Jun 21, 1996)
V754M	G->A at 2392	13	Val->Met at 754	As above	As above
L137H	T->A at 542	4	Leu->His at 137	As above	As above
4095+42T/C	T or C at 4095+42	intron 21	polymorphism?	As above	As above
1716+77A/G	A or G at 1716+77	intron 10	polymorphism	As above	As above
4006-103delT	deletion of T at 4006-103	intron 20	polymorphism?	As above	As above
Note: (3622insT)The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes. 3622insT was observed in a 12 year old South Indian boy with high sweat chloride and features highly suggestive of CF. He was homozygous for this mutation. This mutation was not observed on 36 non-[delta]F508 chromosomes from suspected Indian CF patients. This work was supported by the British Paediatric Association (BPA). (3601-20T->C)The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes. 3601-20T->C was observed in two heterozygous patients both from North India. One of the patients died in infancy from Pseudomonas pneumonia and no sweat tests were carried out on this patient. The second patient has failure to thrive and recurrent chest infections with a borderline sweat test. No other mutation has been identified yet in either patient. 3601-20T>C creates a novel Psp1406I site. This work was supported by the British Paediatric Association (BPA). (T1252P)The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. None of the reported changes have been observed previously on over 100 non-[delta]F508 CF chromosomes. T1252P was observed in an 8 month old male child with CF symptoms who was referred from the Liverpool DNA lab by Roger Mountford. We have few clinical details although his other mutation is [delta]F508. T1252P destroys an RsaI site. (V754M)The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes. V754M was observed in a 14 year old male clinically affected by CF and referred from the Liverpool DNA lab by Roger Mountford. His sweat tests are positive although his respiratory involvement is very mild. His other mutation is G542X. V754M creates a novel NlaIII site. (L137H)The above mutation was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It was not previously observed in over 100 non-[delta]F508 CF chromosomes. L137H was observed in an adult male presenting only with male infertility due to CBAVD. This sample was referred from the Leeds DNA lab by Lucy Ellis. His other mutation is [delta]F508. (4095+42T/C)The presumed polymorphism was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes. 4095+42T/C was observed in a S African patient who claimed to have mild CF when young, no other mutation has been identified but we feel that this is likely to be a polymorphism. (1716+77A/G)The above polymorphism was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes. The G variant of 1716+77A/G was observed in a 15 yr old Asian patient who had a borderline sweat test but features not strongly suggestive of CF. No other mutation was identified. (4006-103delT)The presumed polymorphism was detected by SSCP/heteroduplex analysis and characterised by direct sequencing. It has not been observed previously on over 100 non-[delta]F508 CF chromosomes. 4006-103delT was observed in a normal adult female undergoing screening due to infertility treatment for her partner who was a [delta]F508 carrier and who had CBAVD. This change is highly likely to be a polymorphism. Contact: Andrew Wallace

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3922del10->C	deletion of 10 bp from 3922 and replacement with 3921	20	deletion of Glu1264 to Glu1266	Royal Manchester Children's Hospital, England.	Schwarz M. Malone G, Haworth A (Jun 24, 1996)
Note: (3922del10->C)This complex mutation deletes 10 bp and replaces with one C residue. The net result is an in-frame deletion of 3 whole codons (1264-1266). The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy whose other CF mutation was [delta]F508. The patient was referred by West Midlands Regional Genetics Service for rare mutation testing. We have seen it only once in over 150 non-[delta]F508 chromosomes tested. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
R352W	C->T at 1186	7	Arg->Trp at 352	Royal Manchester Children's Hospital, England.	Byrne K, Malone G, Haworth A, Schwarz M (Jun 28, 1996)
Note: (R352W)The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy referred by West Midlands Regional Genetics Service, and whose other CF mutation was [delta]F508. We have seen it only once in over 150 samples tested. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
S13F	C->T at 170	1	Ser->Phe at 13	Istituto di Clinica e Biologia dell'Eta Evolutiva	Cao A, Leoni G, Rosatelli M (Jul 03, 1996)
Note: (S13F)This mutation was detected by DGGE and identified by direct sequencing in a CF patient of Sardinian origin. Contact: Antonio Cao

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
G544V	G->T at 1763	11	Gly->Val at 544 (CBAVD)	Institut de Biologie Montpellier, France	Claustres M, Guittard C, De Meeus A, Carles S (Jul 05, 1996)
Note: (G544V)This putative mutation was found by DGGE and identified by direct sequencing in a CBAVD patient from Southern France. It creates a MmeI restriction site. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1309delG	deletion of G at 1309	8	frameshift	Royal Manchester Children's Hospital, England.	Malone G, Haworth A, Schwarz M (Jul 05, 1996)
Note: (1309delG)The mutation was detected by DGGE and identified by direct DNA sequencing. The mutation was found in a CF patient whose other chromosome carries [delta]F508. We have seen this mutation only once in 150 non-[delta]F508 chromosomes screened. The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
412del7->TA	deletion of ACCAAAG from 412 and insertion of TA	4	frameshift	Service de Biochimie Endocrinienne et Moléculaire, Hopital Debrousse	Michel-Calemard L, Bey Omar F, Morel Y (Jul 10, 1996)
Q634X	T->A at 2032	13	Gln->Stop at 634	Service de Biochimie Endocrinienne et Mol�culaire, Hopital Debrousse	As above
W1098X(3426G->A)	G->A at 3426	17b	Trp->Stop at 1098	As above	As above
1812-136T/C	T or C at 1812-136	intron 12	polymorphism	As above	As above
Note: (412del7->TA)Mutation 412del7->TA is a complex mutation due to deletion in exon 4 of ACCAAAG from 412 and insertion of TA. It is responsible for a frameshift and creation of a stop codon downstream. (Q634X)The mutation was found in the CFTR gene by direct sequencing. Mutation Q634X in exon 13 (T->A at 2032) was found once in a French CF chromosome associated with the A haplotype. The patient carries [delta]F508 on her other chromosome. (W1098X(3426G->A))Mutation W1098X (G->A at 3426) in exon 17b is the same mutation as described by Macek (NL#58) but is due to a different nucleotide change. The mutation was found by direct sequencing. Surprisingly the patient, whose parents do not seem to be consanguineous, is homozygous for this mutation. (1812-136T/C)The polymorphism was found in the CFTR gene by direct sequencing. Contact: Yves Morel

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
G1247R	G->A at 3871	20	Gly->Arg at 1247	IRO, Spain. Lab. Genetika, Brazil	Casals T, Ramos MD, Gimenez J, Nunes V, Estivill X. Faucz F, Raskin S. (Jul 19, 1996)
565delC	deletion of C at 565	4	frameshift	As above	As above
I148N	T->A at 575	4	Ile->Asn at 148	As above	As above
Note: (G1247R)Patient was from Brazil and is of Afro-American origin. The G1247R mutation was detected by DGGE and direct sequencing. The patient is homozygous for the mutation, with PI and mild lung disease. (565delC)Patient was from Brazil and of Afro-American origin. The 565delC mutation was detected by SSCA and direct sequencing. The patient also carries mutation P5 (?) and he is PI with mild lung disease. (I148N)Patient was from Brazil and of Afro-American origin. The mutation was detected by SSCA and direct sequencing. Contact: Teresa Casals

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
G241R	G->A at 852	6a	Gly->Arg at 241	Laboratoire de Biogénétique, Brest, France	Férec C, Verlingue C, Mercier B, Quere I (Jul 31, 1996)
Note: (G241R)Identified by DGGE and direct sequencing. Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
C225X	T->A at 807	6a	Cys->Stop at 225	�tablissement de Transfusion Sanguine de Bretagne Occidentale, Brest, France	Mercier B (Aug 07, 1996)
Note: (C225X)No further description. Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3850-129T/C	T or C at 3850-129	intron 19	polymorphism	IRO, Barcelona, Spain.	Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X. (Aug 08, 1996)
Q552K	C->A at 1786	11	Gln->Lys	Lab. Genetika, Curitiba, Brazil. IRO, Barcelona, Spain.	Faucz F, Raskin S. Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X. (Aug 08, 1996)
1716+85C/T	C or T at 1716+85	intron 10	polymorphism	As above	As above
W1282G	T->G at 3976	20	Trp->Gly at 1282	As above	As above
Note: (3850-129T/C)The presumed polymorphism 3850-129T/C was detected by DGGE in a Spanish patient. (Q552K)The mutation Q552K was detected by DGGE and direct sequencing in a patient from Brazil (Afro-American origin), he is homozygous for this mutation, with PI and mild lung involvement. (1716+85C/T)The polymorphism 1716+85C/T was detected by SSCA in a patient from Brazil (Caucasian origin). (W1282G)The mutation W1282G was detected by DGGE and direct sequencing in a patient from Brazil (Caucasian origin), she carries [delta]F508 on the other chromosome and he presents PI and mild lung disease. Contact: Teresa Casals

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
G576A	G->C at 1859	12	Gly->Ala at 576 (CAVD)	Royal Manchester Children's Hospital, England	Sarginson J, Malone G, Haworth A, Schwarz M (Aug 13, 1996)
Note: (G576A)The mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was seen in a 45 year-old male with absence of the vas deferens, who also has [delta]F508. We have seen it only once, in over 100 non-[delta]F508 chromosomes screened, in this man referred by the Oxford Medical Genetics Laboratories (UK). The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerned Action for the Co-ordination of Cystic Fibrosis Research and Therapy. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
174delA	deletion of A between 172-174	1	frameshift	Institut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany.	D�rk T, El-Harith E-H, Ellemunter H, Schmidtke J, Stuhrmann M (Aug 13, 1996)
406-2A->G	A->G at 406-2	intron 3	splicing mutation	As above	As above
R334L	G->T at 1133	7	Arg->Leu at 334	As above	As above
4108delT	deletion of T at 4108	22	frameshift	As above	As above
K1351E	A->G at 4183	22	Lys->Glu at 1351 (CBAVD)	As above	As above
Note: (174delA)frameshift mutation 174delA was identified in a heterozygous CBAVD patient with a yet uncharacterized other allele. (406-2A->G)Splice mutation 406-2 A->G was detected in a homozygous CF patient from the United Arabian Emirates. (R334L)Missense mutation E334L was detected in a German CBAVD patient who is compound heterozygous for the R334L and I336K mutations. (4108delT)Frameshift mutation 4108delT was found in an Austrian CF patient from Tyrol who is heterozygous for this mutation and for [delta]F508. (K1351E)Missense mutation K1351E was identified in a German CBAVD patient who is heterozygous for this mutation and for [delta]F508. Contact: Manfred Stuhrmann-Spangenberg

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L1093P	T->C at 3410	17b	Leu->Pro at 1093	Stanford University, Stanford, California.	Wine J, Robinson C, Law T, Moss R (Aug 19, 1996)
Note: (L1093P)The above mutation was found by SSCP/HA in a compound heterozygote; the other mutation is N1303K. The patient is Caucasian, has pancreatic insufficiency, elevated sweat chloride concentrations (116 mEg/L on 12/13/67), and pulmonary disease that required a lung transplant. Contact: Jeffrey Wine

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L101X	T->G at 434	4	Leu->Stop at 101	IRO, Barcelona, Spain; National Research Institute, Warsaw, Poland.	Casals T, Gimenez J, Ramos MD, Nunes V, Estivill X, Bal J (Aug 20, 1996)
Note: (L101X)The L101X mutation was detected by SSCA and direct sequencing in a Polish CF patient. She is 18 years old and she carries a [delta]F508 on the other chromosome. She presents PI and lung disease with Pseudomonas colonization. Contact: Teresa Casals

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1248+52T/C	T or C at 1248	intron 7	polymorphism	Laboratory of Molecular Pathology, Sofia, Bulgaria	Jordanova A, Kalaydjieva L, Claustres M (Aug 21, 1996)
Note: (1248+52T/C)The above sequence alteration was detected by SSCP analysis and identified by direct sequencing. It was found in one French patient as a result of a collaborative study between the Laboratory of Molecular Pathology in Sofia, Bulgaria and Laboratoire de Biochimie G�n�tique, Montpellier, France. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
CFTR14b-18del	deletion of 20 kb from exons 14b through 18	14b-18	deletion of amino acids 874-1156	SUNY Health Science Center, Syracuse, New York.	Shrimpton A E, Borowitz D (Aug 28, 1996)
Note: (CFTR14b-18del)This patient also carried the Y1092X CF mutation in exon 17b. Exons 14b through 18 are deleted resulting in an inframe deletion of 238 amino acids, which make up the second membrane spanning domain. The size of this deletion is between 11kb and 34kb. His sweat Cl- level was 102. He was diagnosed at birth when he presented with meconium ileus. He required a right upper lobectomy at 10 years of age, followed by a total right pneumonactomy. As a young teenager he developed hepatic cirrhosis with portal hypertension, hyperspenism and coagulopathy. He had several episodes of bleeding esophageal varices treated with sclerotherapy. At age 19 he had a gastrostomy placed for enteral feeding. He developed CF related diabetes at age 21 requiring treatment with insulin. As an older teenager he began to have hemoptysis, at age 20 he began to have episodes of massive heoptysis. He was found to have a right bronchopleural fistula which was treated with gluc-ing procedure. However, hemoptysis continued and he ultimately underwent multiple bronchial artery embolizations. During the final years of his life he was oxygen dependent and had cor pulmonale with carbon dioxide retention. He ultimately died of respiratory failure at age 26 1/2. He had severe CF. Contact: Antony E. Shrimpton

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3040+2T->C	T->C at 3040+2	intron 15	splice mutation	G�n�tique Humaine, Centre H�spitalier Universitaire de LIEGE, Liege, Belgium.	Poncin J (Aug 30, 1996)
4006-14C->G	C->G at 4006-14	intron 20	splice mutation?	As above	As above
F1300L	T->C at 4030	21	Phe->Leu at 1300	Génétique Humaine, Centre Hôspitalier Universitaire de LIEGE, Liege, Belgium.	As above
Note: (3040+2T->C)Mutation 3040+2T->C, was identified in a CF patient who carries the [delta]F508 mutation on the other chromosome; this mutation alters the second nucleotide of intron 15 (splicing donor site). The above mutation was identified by DGGE analysis and confirmed by DNA sequencing. (4006-14C->G)The sequence change was identified in a CF patient with no previously known mutation; this presumed mutation could alter the intron 20 splicing but that is not certain. The above mutation was identified by DGGE analysis and confirmed by DNA sequencing. (F1300L)Mutation F1300L (4030 T-C; exon 21) was identified in a normal individual. It could be a mutation or a polymorphism. The above mutation was identified by DGGE analysis and confiremed by DNA sequencing. Contact: Jacques Poncin

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
I1234L	A->C at 3832	19	polymorphism	Laboratoire de Biogénétique, Brest, France	Férec C, Verlingue C, Mercier B, Quere I (Sep 05, 1996)
Note: (I1234L)The polymorphism was identified by DGGE and direct sequencing of a carrier mother. Since it was not detected in her affected child, we concluded that it was a polymorphism. Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
S1206X	C->G at 3749	19	Ser->Stop at 1206	Laboratoire de Biogénétique, Brest, France	Férec C, Verlingue C, Quere I, Mercier B (Sep 12, 1996)
Note: (S1206X)The mutation was dentified by DGGE and direct sequencing. Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
2967G/A	G or A at 2967	15	polymorphism (no change for Ser at 945)	Laboratoire de Biochimie Génétique, Pavillon Cassini, Paris, France.	Bienvenu T, Borde P, Bousquet S, Herbulot C, Beldjord C (Sep 19, 1996)
Note: (2967G/A)We would like to report to the consortium one novel sequence variation located in exon 15 of the CFTR gene. This polymorphism S945S (TCG->TCA; 2967 G->A) was found by DGGE using chemical clamps and identified by direct sequencing. This nucleotide substitution destroys a Taql restriction site, like the S945L mutation. Contact: Thierry Bienvenu

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
R933S	A->T at 2931	15	Arg->Ser at 933 (CBAVD)	Institut fur Humangenetik, Medizinische Hochschule Hannover, Hannover, Germany.	D�rk T, Schmidtke J, Stuhrmann M (Sep 23, 1996)
1341+1G->A	G->A at 1341+1	intron 8	splicing mutation	As above	As above
V938G	T->G at 2945	15	Val->Gly at 938 (CAVD)	As above	As above
4269-139G/A	G or A at 4269-139	intron 22	polymorphism	As above	As above
Note: (R933S)R933S was found in a German patient with CBAVD who is also heterozygous for [delta]F508. (1341+1G->A)Splicing mutation 1341+1 G->A was identified in a German CF patient who is heterozygous for this mutation and for [delta]F508. (V938G)V938G was identified in two patients, one homozygote with CUAVD, and one heterozygote with CBAVD and carrying the previously reported 174delA mutation. (4269-139G/A)Sequence variation 4269-139 G->A in intron 22 is a frequent polymorphism located in the primer binding site of Consortium primer 23i-5. We also find a sequence correction, GC instead of CG at 4269-145/144 within this site. These changes can result in an allele-specific suppression of PCR amplification if primer 23i-5 is used under stringent conditions. Contact: Manfred Stuhrmann-Spangenberg

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
232del18	Deletion of 18 bp from 232	2	Deletion of 6 aa from Leu34 to Gln39	Lab. Genetika, Curitiba, Brazil; IRO, Barcelona, Spain .	Faucz F, Raskin S, Casals T, Ramos MD, Gimenez J, Nunes V, Estivill X (Sep 25, 1996)
Note: (232del18)The above mutation was detected by SSCA and direct sequencing in a patient from Brazil (Caucasian origin). He carries [delta]F508 on the other chromosome and he presents PI and mild lung disease. Contact: Teresa Casals

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L138ins	insertion of CTA, TAC or ACT at nucleotide 544, 545 or 546	4	insertion of leucine at 138	Insitut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany.	D�rk T, Schmidtke J, Stuhrmann M (Oct 06, 1996)
L568F	G->T at 1836	12	Leu->Phe at 568 (CBAVD?)	As above	As above
E56K	G->A at 298	3	Glu->Lys at 56	As above	As above
D58N	G->A at 304	3	Asp->Asn at 58	As above	As above
Note: (L138ins)Missense mutations D58N, L568F and the leucine insertion at position 138 were all found in heterozygous CBAVD patients with yet unidentified mutations on their other alleles. We have chosen the symbol [inverse-delta] to designate an amino acid insertion but other proposals would be similarly welcome. L-CT NOTE: L138ins is assigned to this mutation, according to the newly recommended guideline. (L568F)L568F was found in a heterozygous CBAVD patient with yet unidentified mutations on their other alleles. (E56K)Missense mutation E56K was identified in a German CBAVD patient heterozygous for this mutation and for [delta]F508. (D58N)Missense mutations D58N was found in a CBAVD patient with an yet unidentified mutation on his other allele. Contact: Manfred Stuhrmann-Spangenberg

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
D1445N	G->A at 4465	24	Asp->Asn at 1445	Athens University, First Dept of Pediatrics, Unit of Molecular Medicine St. Sophias Children Hospital Athens, Greece.	Antoniadi T, Tzetis M, Kanavakis E (Oct 07, 1996)
Note: (D1445N)Consequence: Missence mutation. The G to A substitution at nucleotide 4465 results in the replacement of Aspartic acid for Asparagine at amino acid 1445. The mutation has not been found in 56 normal chromosomes screened. Frequency: 0.2% (1/500 chromosomes) Patient data: Genotype: D1445N/Unknown The trans mutation of the patient remains unknown although he has been screened for all the exons and intron-exon boundaries. Age at diagnosis: 2 yrs Current age: 16 yrs Chloride sweat test: 110mEq/L He is pancreatic insufficient and has chronic cough. Contact: Emmanuel Kanavakis

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
M1028I	G->T at 3216	17a	Met->Ile at 1028	Bogazici University, Istanbul, Turkey The Hospital for Sick Children, Toronto, Canada	Onay T, Kirdar B, Zielenski J, Markiewicz D, Tsui L-C (Oct 07, 1996)
P1013L	C->T at 3169	17a	Pro->Leu at 1013	As above	As above
3172delAC	deletion of AC from 3172	17a	frameshift	As above	As above
L218X	T->A at 785	6a	Leu->Stop at 218	The Hospital for Sick Children, Toronto, Canada	Zielenski J, Markiewicz D, Tsui L-C (Oct 07, 1996)
1249-29delAT	deletion of AT from 1249-29	intron 8	splicing mutation?	The Hospital for Sick Children, Toronto, Canada Bogazici University, Istanbul, Turkey	Zielenski J, Markiewicz D, Tsui L-C, Onay T, Kirdar B (Oct 07, 1996)
Note: (M1028I)The mutation was detected by heteroduplex analysis. It was found in a Turkish CF patient. The second mutation: unknown. Clinical symptoms: high sweat Cl-, malabsorbtion, gastrointestinal symptoms. (P1013L)The mutation was detected by heteroduplex analysis. It was found in a Turkish CF patient. The second mutation: unknown. (3172delAC)The mutation was detected by heteroduplex analysis. It was found in a Turkish CF patient. The second mutation: F1052V. Clinical symptoms: elevated sweat Cl-, liver cirrhosis. (L218X)The mutation was detected by heteroduplex analysis. It was found in a Pakistani CF patient. The second mutation: unknown. (1249-29delAT)The mutation was detected by heteroduplex analysis. It was found in one Caucasian CF patient. The second mutation: [delta]F508. Contact: Julian Zielenski

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
N287Y	A->T at 911	6b	Asn->Tyr at 287	SUNY Health Science Center, Syracuse, New York.	Shrimpton A E, Borowitz D (Oct 09, 1996)
R1070P	3341 G->C	17b	Arg->Pro at 1070	SUNY Health Science Center, Syracuse, New York	As above
1259insA	insertion of A after 1259	8	frameshift	As above	Shrimpton AE, Swender P (Oct 09, 1996)
Note: (N287Y)This individual was a compound heterozygote for [delta]F508. He was diagnosed at 3 1/2 years of age when referred because of rectal prolapse; his sweat Cl was 75 and 81 mEq/L. He had been totally healthy since birth with normal growth and no significant gastrointestinal complaints. He had 4-5 upper respiratory infections per year. Formal pancreatic function testing was within normal limits. A vas deferens was identified on the side of the herniorraphy. He has grown along the fiftieth percentile for weight and the ninetieth for height without the use of pancreatic enzyme supplements. N287Y was originally identified by SSCA and HA and was subsequently detected by artificial Dra I site generating PCR amplification. (R1070P)This 26 year old individual of Polish extraction with mild CF presented at age 11 with nasal polyps. He had noted salt crystals on his skin in warm weather, but did not hava a chronic cough or gastrointestinal complaints. Pulmonary function tests and chest X-ray were normal. Sweat chloride was 121 mMol/L (repeat value was 104 mMol/L). No formal pancreatic function testing was performed. Most recent pulmonary function tests show mild obstructive airways disease. This individual is a compound heterozygote for the 2143delT CF mutations. R1070P was originally detected by SSC/HA and can be detected by virtue of the creation of a Sau96I or destruction of a BslI site. Mutation R1070P was also reported by D�rk T, Hughes D, Dworniczak B, Stuhrmann M (Jan 30, (NL#69)) in a CF patient from Northern Ireland who carried R1070P on his paternal and [delta]F508 on his maternal allele. (1259insA)Found once in an individual who is a compound heterozygote for the 1717-1G->A. This mutation results in the increase of a string of A's into five which is expected to lead to the premature termination of product due to the formation of a TAA stop codon four codons downstream at codon position 381. Detection by SSC/HA. This mutation was shown to have been inherited from the parent without 1717-1G->A. This mutation can be detected by SSCA and HA. Contact: Antony E. Shrimpton

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1813insC	insertion of C after 1813 (or 1814)	12	frameshift	Department of Medical Genetics, Faculty of Medical Sciences, University of Groningen, The Netherlands	Scheffer H, Wu Y, Hofstra R, Looman M, Buys C (Oct 23, 1996)
Note: (1813insC)This mutation was detected by DGGE and identified by direct sequencing. The frameshift would lead to a downstream stop codon in the CFTR mRNA. This mutation was found in a female with CF carrying the [delta]F508 mutation on the other allele. The mutation was not observed in 100 other CFTR alleles from 50 unrelated individuals without CF history in their families. Contact: Hans Scheffer

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
E672del	deletion of 3 bp between 2145-2148	13	deletion of Glu at 672	Institut de Biologie Montpelier	Claustres M, Guittard C, Desgorges M, Carles S (Oct 28, 1996)
2377C/T	C or T at 2377	13	polymorphism (no change for Leu at 749)	As above	As above
Note: (E672del)This mutation was found by DGGE and identified by direct sequencing in a lebanese family. It does not modified a RS. (2377C/T)This polymorphism was found by DGGE and identified by direct sequencing in a CBAVD from Southern France. It does not modified a RS. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1263insG	insertion of G after 1263	8	frameshift	Bogazici University, Istanbul, Turkey The Hospital for Sick Children, Toronto, Canada	Onay T, Kirdar B, Zielenski J, Markiewicz D, Tsui L-C (Oct 28, 1996)
Note: (1263insG)The mutation was detected by heteroduplex analysis in one chromosome of a Turkish CF patient. Genotype: (1263insG/[delta]F508). Contact: Lap-Chee Tsui

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
IVS14a+17del5	5 bp deletion between 2751+17 and 2751+24	intron 14a	polymorphism?	Institut de Biologie Montpelier	Claustres M, Guittard C, Desgorges M, Carles S (Nov 06, 1996)
Note: (IVS14a+17del5)This polymorphism was found by DGGE and identified by direct sequencing in a Lebanese family. It was detected in a CF patient's father with [delta]F508 on the other chromosome. It does not modify a RS. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3600+42G/A	G or A at 3600+42	intron 18	polymorphism?	Institut fur Humangenetik, Medizinische Hachschule Hannover, Hannover, Germany	D�rk T, El-Harith E-H A, Schmidtke J, Stuhrmann M (Nov 21, 1996)
3500-44G/A	G or A at 3500-44	intron 17b	polymorphism?	As above	As above
1548delG	deletion of G from 1548-1550	10	frameshift	As above	As above
712-92T/A	T or A at 712-92	intron 5	polymorphism	As above	As above
295ins8	insertion of ATTGGAAA after 295	2	frameshift	As above	As above
Note: (3600+42G/A)The intron 18 variant was only observed once in an individual suspected to have CF. (3500-44G/A)The intron 17b variant was only observed once in an individual suspected to have CF. (1548delG)frameshift mutation 1548delG was detected in a Saudi-Arabian CF family where the father carried 1548delG and the mother N1303K. (712-92T/A)712-92T->A was seen in a single CBAVD patient with no other known CFTR mutations. (295ins8)The 8bp insertion was identified in a German CF patient heterozygous for the insertion and for [delta]F508. Contact: Manfred Stuhrmann-Spangenberg

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1294del7	deletion of 7 bp from 1294	8	frameshift	Department of Medical Genetics University of Groningen, Faculty of Medical Sciences Groningen, The Netherlands	Scheffer H, Wu Y, Hofstra R, Looman M, Buys C (Nov 26, 1996)
Note: (1294del7)The mutation was detected by DGGE and identified by direct sequencing. The defect is a deletion of seven nucleotides at position 1294 in exon 8 (1294del7). This mutation will lead to a downstream stopcodon in the CFTR mRNA. This mutation has been found in a male with CF carrying the [delta]F508 mutation on the other allele. Contact: Hans Scheffer

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
P111A	C->G at 463	4	Pro->Ala at 111	Laboratoire de Biogénétique, University of Brest Brest, France	Férec C, Verlingue C, Quere I, Mercier B (Nov 28, 1996)
Note: (P111A)The mutation was identified by DGGE and direct DNA sequencing in a CBAVD patient. He has a stop mutation R553X on the other allele. Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L997F	G->C at 3123	17a	Leu->Phe at 997	Genetic Unit, Dept. of Pediatrics AIIMS (India) Regional Molecular Genetics Lab, St. Mary's Hospital, Manchester, U.K.	Kabra M, Wallace A J, Ghosh M, Kabra S K, Verma I C (Dec 11, 1996)
Note: (L997F)The mutation was detected by SSCP heteroduplex analysis and characterised by direct sequencing. This mutation was observed in a 5 year old North Indian boy, born to consangueinous parents migrated from Pakistan. He had a borderline high sweat chloride value and features highly suggestive of cystic fibrosis. He was heterozygous for this mutation. This work was supported by the British Pediatric Association. Contact: Andrew Wallace

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
279A/G	A->G at 279	2	No change (Leu at 49)	Laboratoire de Biochimie et G�n�tique Mol�culaire Paris, France	Bienvenu T, Bousquet S, Beldjord C (Dec 12, 1996)
S1255L	C->T at 3896	20	Ser->Leu at 1255	Laboratoire de Biochimie & Génétique Moléculaire Paris, France	As above
Note: (279A/G)We would like to report to the consortium one novel mutation located in exon 20 of the CFTR gene and one novel sequence variation located in exon 2 of the CFTR gene. The missense mutation was detected by DGGE and identified by direct sequencing. The mutation S1255L (C->T at 3896) is not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. Two other CF mutations have been identified at the same codon (S1255L)The missense mutation was detected by DGGE and identified by direct sequencing. The mutation S1255L (C->T at 3896) is not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. Two other CF mutations have been identified at the same codon Contact: Thierry Bienvenu

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
2723delTT	deletion of TT from 2723	14a	frameshift	Athens University, First Dept of Pediatrics Unit of Molecular Medicine St. Sophias Children Hospital Athens, Greece	Antoniadi T, Tzetis M, Kanavakis E (Dec 12, 1996)
N1432K	C->G at 4428	24	polymorphism	As above	As above
Note: (2723delTT)The mutation was found once in a patient of Serbian origin. Patient data: Genotype: F508/2723delTT Age at diagnosis: since birth Current age: 9 months Chloride sweat test: 100-113mmol/L The patient is PI since 6th month of age, with chronic cough. (N1432K)The C->G substitution at nucleotide 4428 results in the replacement of Asparagine for Lysine at aminoacid 1432. We suggest it is a polymorphism since it was not found among 100 pathological chromosomes screened and found once among 60 normal chromosomes screened. The carrier of N1432K is the mother of a CF patient; she has [delta]F508 in trans, and the chloride sweat test is normal. Contact: Emmanuel Kanavakis

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L867X	T->A at 2732	14a	Leu->Stop at 867	Royal Manchester Children's Hospital, England	Haworth A, Malone G, Schwarz M (Dec 16, 1996)
Note: (L867X)The mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was found in a Scottish CF patient whose other mutation is [delta]F508 and who was referred from the Duncan Guthrie Institute of Medical Genetics, Glasgow. We have seen L867X only once in over 100 non-[delta]F508 chromosomes screened. The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
W1282C	G->T at 3978	20	Trp->Cys at 1282	Laboratoire de Biogénétique, University of Brest, Brest, France	Férec C, Verlingue C, Quere I, Mercier B (Dec 30, 1996)
H939R	A->G at 2948	15	His->Arg at 939	As above	As above
T908N	C->A at 2788	15	missense	As above	As above
Note: (W1282C)Found by DGGE and DNA sequencing. (CF patient, genotype [delta]F508/W1282C) (H939R)Found by DGGE and DNA sequencing. (CF patient, genotype [delta]F508/H939R) (T908N)Found by DGGE and DNA sequencing. (CBAVD patient, genotype [delta]F508/T908N) Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
4096-3C->G	C to G at 4096-3	intron 21	splice mutation?	Institut de Biologie Montpellier	Claustres M, Guittard C, Desgorges M, Carles S (Jan 06, 1997)
Note: (4096-3C->G)This mutation was found by DGGE and identified by direct sequencing in a homozygous patient from a Lebanese family. It creates a Mnl I restriction site. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L383S	T->C at 1280	8	Leu->Ser at 383	IRO Barcelona, Spain	Casals T, Ramos M D, Gimenez J, Nunes V, Estivill, X (Jan 07, 1997)
Note: (L383S)The L383S mutation has been detected by DGGE and direct sequencing. The patient is a spanish man with CUAVD. Contact: Teresa Casals

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
Y1082H	T to C at 3406	17b	Tyr to His at 1082	Center for Medical Genetics, John Hopkins Hospital Baltimore MD	Egan M M, Zhang J, Cutting G R (Jan 11, 1997)
Note: (Y1082H)The Y1082H mutation was seen on 1 Caucasian chromosome in US. ASO analysis revealed that this alteration was not present on 100 non-CF Caucasian chromosomes. This mutation was found in a 9 year old patient with a diagnosis of asthma. Sweat testing was borderline with values of 58 and 52. Tests were negative for staph and pseudomonas. The mutation was found after screening of 16 common mutations ([Delta]F508, R117H, W1282X, 621+1G->T, R334W, R347P, A445E, [Delta]I507, 1717-1G->A, G542X, S549N, G551D, R553X, R560T, N1303K, 3849+10kbC->T) by reverse dot blot and 4 exons by DGGE. It is yet to be determined if a second CF mutation will be found. Contact: Garry R. Cutting

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
549C/T	C->T at 549	4	No change (His at 139)	Institut de Biologie Montpelier	Claustres M, Guittard C, Desgorges M, Carles S (Jan 16, 1997)
Note: (549C/T)This polymorphism was found by DGGE in a normal individual originating from Hungary and identified by direct sequencing. It creates a Fok I restriction site. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
3079delTT	deletion of TT from 3079	16	frameshift	Royal Manchester Children's Hospital, England	Haworth A, Malone G, Schwartz M (Jan 17, 1997)
Note: (3079delTT)The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a baby girl whose other CF mutation is [delta]F508. We have seen it only once in 100 samples tested. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
W401X(TGG->TAG)	G->A at 1334	21	Trp->Stop at 401	Laboratoire de Biogénétique, University of Brest Brest, France	Férec C, Verlingue C, Quere I, Mercier B (Jan 21, 1997)
-834T/G	T or G at -834	5' flanking	polymorphism	As above	As above
E1308X	G to T at 4054	21	Glu to Stop at 1308	Laboratoire de Biog�n�tique, University of Brest Brest, France	F�rec C, Verlingue C, Quere I, Mercier B (Jan 21, 1997)
Note: (W401X(TGG->TAG))This mutation was detected by DGGE and DNA sequencing. (CF patient, genotype F508/W401X) The W401X is different from the W401X reported by Cuppens (change at 1335; TGG->TGA). (-834T/G)The presumed polymorphism was found in the CFTR gene by DGGE and DNA sequencing. (E1308X)Found in the CFTR gene by DGGE and DNA sequencing. (CF patient, genotype E1308X/G542X) Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
-102T->A	T->A at -102	5' flanking	regulatory mutation?	Institut de Biologie Montpelier	Claustres M, Romey M C, Guittard C, Desgorges M, Carles S (Jan 30, 1997)
Note: (-102T->A)This possible mutation(?) was found by DGGE then direct sequencing in the region upstream from the CFTR cap site. This change was not found in 200 normal alleles of our series. It was associated with the S549R(T->G) mutation in a CF patient who carries S945L on the other chromosome. It was also detected in another CF patient with genotype S549R(T->G)/[delta]F508, but no parental DNA was available at that time to further determine on which allele -102T->A is carried. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
Y1032C	A->G at 3227	17a	Tyr->Cys at 1032 (CBAVD)	Institut fur Humangenetik, Medizinische Hochschule Hannover Hannover, Germany	D�rk T, Hughes D, Dworniczak B, Stuhrmann M (Jan 30, 1997)
Note: (Y1032C)Mutation Y1032C was identified in a German CBAVD patient who is heterozygous for Y1032C and for the [delta]F508 deletion. Contact: Manfred Stuhrmann-Spangenberg

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
H484Y	C->T at 1582	10	His->Tyr at 484 (CBAVD?)	IRO, Barcelona, Spain	Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X (Jan 31, 1997)
E504X	G to T at 1642	10	Glu to Stop at 504	IRO, Barcelona, Spain Lab. Genetika, Curitiba, Brazil	Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X, Faucz F, Raskin S, (Jan 31, 1997)
Note: (H484Y)The H484Y mutation was detected by SSCA and direct sequencing. The patient is a Spanish man with CBAVD. (E504X)The mutation E504X was detected by SSCA and direct sequencing in a CF patient from Brazil (Afro-American origin). Contact: Teresa Casals

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
2896insAG	insertion of AG after 2896	15	frameshift	Institut de Biologie Montpellier Laboratoire de Biochimie et Génétique Moléculaire	Claustres M, Guittard C, Desgorges M, Carles S and Bienvenu et al. (Feb 12, 1997)
Note: (2896insAG)This mutation was found by DGGE and identified by DNA sequencing in a CBAVD patient who carries D1152H on the other chromosome. This insertion leads to a stop codon at the next residue (codon 923). It does not modifiy any restriction site. This frameshift mutation was also found by Bienvenu T, Bousquet S, Kaplan JC, Beldjord C (March 21, (NL#69)) by DGGE and direct sequencing. This mutation 2894 Ins AG is not found in 200 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. It was found in a CF adult male patient, currently 20 years of age. The patient presents a classical form of CF. The patient has [delta]F508 on the other chromosome. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
406-6T->C	T->C at 406-6	intron 3	polymorphism?	Laboratoire de Biog�n�tique, Brest, France	F�rec C (Feb 13, 1997)
Note: (406-6T->C)We have found a child with the following genotype 406-6T->C/[delta]F508, he is symptom free as the sweat test is normal. This results allows us to think that the 406-6t->C is a polymorphism. Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
L206F	G->T at 750	6a	Leu->Phe at 206	University of Brest Brest, France	Férec C, Verlingue C, Quere I, Mercier B (Feb 14, 1997)
Note: (L206F)We would like to report a novel mutation we have identified by DGGE and direct sequencing. Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
I1230T	T to C at 3821	19	Ile to Thr at 1230	Institut de Biologie Montpellier	Claustres M, Maugard C (Mar 21, 1997)
Note: (I1230T)This putative mutation was found by DGGE and identified by DNA sequencing. It does not modify any restriction site. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
W57R	T->C at 301	3	Trp->Arg at 57	Royal Manchester Children's Hospital, England	Malone G, Haworth A, Schwarz M (Mar 21, 1997)
Note: (W57R)The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a female referred by the West Midland Regional Genetics Service; her other CF mutation is [delta]F508. We have seen it only once in over 200 non[delta]F508 CF chromosomes screened. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
449del8	deletion of GCTTCCTA from 449	4	frameshift	Stanford University	Vassilakis A, Hurlock G, Wagner J, Moss R, Wine J J (Apr 13, 1997)
G970Y	G to A at 3041	16	Gly to Tyr at 970	As above	As above
Note: (449del8)The above mutation was found by SSCP/HA in a compound heterozygote; the other mutation is G970Y. Further patient information will be reported. (G970Y)The above mutation was found by SSCP/HA in a compound heterozygote; the other mutation is an 8 nt deletion in exon 4. Further patient information will be reported. Contact: Jeffrey Wine

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
P1021S	C to T at 3193	17a	Pro to Ser at 1021 (CBAVD)	IRO, Spain	Casals T, Gimenez J, Ramos M D, Nunes V, Estivill X (Apr 16, 1997)
Note: (P1021S)The P1021S mutation has been detected by SSCA and direct sequencing. The mutation was identified in a Spanish man with CBAVD carrying a [delta]F508 on the other chromosome. Contact: Teresa Casals

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
D1305E	T to A at 4047	21	Asp to Glu at 1305	Institut de Biologie Montpellier	Claustres M, Guitard C, Desgorges M, Carles S (May 13, 1997)
Note: (D1305E)This possible mutation was found by DGGE and identified by DNA sequencing in a CBAVD patient who carries [Delta]F508 on the other chromosome. It destroys a BstY I restriction site. Contact: Mireille Claustres

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1863C/T	C or T at 1863	12	No change; Tyr at 577 (Polymorphism)	Royal Manchester Children's Hospital, England	Larder R, Byrne K, Malone G, Haworth A, Schwarz M (May 28, 1997)
Note: (1863C/T)The mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was seen on the normal chromosome of a father of a CF patient. We have seen it only once, in over 100 non-[Delta]F508 chromosomes screened. The DGGE primers were generously supplied by Prof. Michel Goossens on behalf of the European Community Concerted Action for the Co-ordination of Cystic Fibrosis Research and Therapy. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1898+5G->A	G to A at 1898+5	Intron 12	Splice mutation	Laboratoire de Biog�n�tique	F�rec C, Verlingue C, Quere I, Mercier B (Jun 03, 1997)
1863T/G	T or G at 1863	12	No change (Tyr 577) (polymorphism)	As above	As above
S977F	C to T at 3062	16	Ser to Phe at 977	As above	As above
K698R	A to G 2225	13	Lys to Arg at 698	As above	As above
I132M	T to G at 528	4	Ile to Met at 132 (polymorphism?)	As above	As above
V1293I	G to A at 4009	21	Val to Ile at 1293 (Polymorphism?)	As above	As above
Note: (1898+5G->A)The CF patient is heterozygous for DF508 and 1898+5G->A. (1863T/G)No comment provided. (S977F)The CF patient has G542X and S977F. (K698R)The patient has DF508 and K698R. (I132M)Found in the wife of a CBAVD patient. It is unclear if the change is a polymorphism or missense mutation. (V1293I)The change was found in the husband of a CF carrier. Contact: Claude Férec

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
Q781X	C to T at 2473	13	Gln to Stop at 781	Departments of Pathology and Medicine, University of North Carolina, Chapel Hill, NC, USA	Zhou Z, Friedman K, Blalock M, Silverman L, Knowles M, Yankaskas J (Jun 03, 1997)
Note: (Q781X)Using SSCP followed by Sequencing analysis, we identified a CF mutation that has not been reported previously. A C-to-T transition at nucleotide 2473 in exon 13 led to change of glutamine 781 to a stop codon (Q781X). This mutation is associated with severe CF phenotype in a Caucasian family. Two affected brothers who are compound heterozygotes of Q781X/1717-1G>A have classic presentations of CF with pancreatic insufficiency. To estimate the frequency of the mutation Q781X, we examined 72 DNA samples from pancreatic insufficient patients who are heterozygous for DF508 with an unidentified mutation. The results showed that none of these 72 non-related patients carries this mutation. We conclude that this newly identified CF mutation, Q781X, is very likely a private mutation with extremely low frequency. Contact: Jackie Zhaoqing Zhou

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
R600G	A to G at 1930	13	Arg to Gly at 600	Laboratoire de Biochimie G�n�tique, Pavillon Cassini, Paris, France	Bienvenu T, Bousquet S, Vidaud D, Keyeux G, Beldjord C (Jun 13, 1997)
H609R	A to G at 1958	13	His to Arg at 609	As above	As above
Note: (R600G)This mutation was detected by DGGE and identified by direct sequencing. R600G is not found in 100 other non-[Delta]F508 CF chromosomes and 100 non CF chromosomes tested. The mutation destroys an Mael site. It was found in a CF female patient, currently 43 years of age. The patient presents a classical form of CF with pancreatic sufficiency. (H609R)This mutation was detected by DGGE and identified by direct sequencing. H609R is not found in 100 other non-[Delta]F508 CF chromosomes and 100 non CF chromosomes tested. The mutation creates an MaeII site. It was found in a CF patient originating from Columbia. Contact: Thierry Bienvenu

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
R297W	C->T at 1021	7	arg to trp at 297	Medizinische Hochschule Hannover, Hannover, Germany	D�rk T, Frye H, Stuhrmann M (Jun 20, 1997)
1366delG	deletion of G at 1366	9	frameshift	As above	As above
Note: (R297W)Missense mutation R297W was identified in a Vietnamese CBAVD patient who is heterozygous for R297W and for the 5T allele. Both chromosomes also carry the Q1352H missense variant in exon 22. (1366delG)Frameshift mutation 1366delG was identified in a German CF patient who is heterozygous for 1366delG and for the G542X mutation. Contact: Manfred Stuhrmann-Spangenberg

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
4005+2T->C	T to C at 4005+2	20	Splice mutation	Department of Medical Genetics, Haukeland Hospital, Norway	Boman H (Jun 28, 1997)
Note: (4005+2T->C)We screened 27 pediatric CF-patients from Western Norway for CFTR mutations by SSCP followed by direct sequencing. In three unrelated patients (all with another known CF-allele) we identified the same shift in exon 20. The PCR primers were 20a and 20B. The mutation causes loss of a natural HphI restriction site. Wild type: 473 bp in three fragments: 70, 137 and 266 bp. Mutated Allele: two fragments: 70 and 403 bp. Next to delF508, this mutation is the most commonly encountered in our CF population. This Bergen mutation was also commonly occurring in Oslo, but it was not found in Copenhagen (personal communications from Kritin Eiklid and Marianne Schwartz). In Norway, DF508 constitutes only about 60% of the CF-mutations (Eiklid et al Clin Genet 1993;44:12-14), in accordance with similar observations in Sweden (Acta Paediatr 1993:82:609). In Western Norway, delF508 is less prevalent than the Norwegian mean (around 50%, unpublished). In addition to delF508, we routinely screen our CF patients for the most frequent 16 Northern European CF mutations, including the Nordic mutution, 394delTT (Schwartz et al, Hum Genet 1994;93:157-61). The result is disappointing- we have so far only seen R117H and G551D (other than the mutation reported here). Contact: Helge Boman

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1716+64A/C	A or C at 1716+64	intron 10	Polymorphism	Royal Manchester Children's Hospital, England	Malone G, Haworth A, Byrne K, Schwarz M (Jul 03, 1997)
Note: (1716+64A/C)This sequence change was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. We have seen 1716+64A/C only once in over 100 non-[Delta]F508 chromosomes screened. Contact: Martin Schwarz

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
1098G/A	G or A at 1098	7	No change (Val322) (Polymorphism)	Medical Centre for Molecular Biology, Institute of Biochemistry Slovenia	Vouk K, Komel R (Jul 17, 1997)
Note: (1098G/A)This nucleotide change, G to A at position 1098 does not change amino acid at position 322 (V322V). This polymorphism has been detected by SSCP technique. Contact: Katja Vouk

Name	Nucleotide Change	Exon	Consequence	Institute	Contributors
S776X	C to G at 2459	13	Ser to Stop at 776	Institut de Biologie Montpellier	Claustres M, Guittard C, Desgorges M, Carles S (Jul 23, 1997)
2183delAA	deletion of AA at 2183	13	Frameshift	As above	As above
2703G/A	G or A at 2703	14a	No change (Lys at 857) (Polymorphism)	As above	Claustres M, Guittard C, Desgorges M, Ramsay M (Jul 23, 1997)
Note: (S776X)This nonsense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Suthern France. It does not modifiy any restriction site. (2183delAA)This deletion was found by DGGE and identified by DNA sequencing in a CF patient from Lebanon with 3120+1G->A on the other chromosome. It does not modify any restriction site. (2703G/A)This polymorphism was found by DGGE and identified by DNA sequencing in a CF patient from South America. It creates a HindIII restriction site. Contact: Mireille Claustres