Missense nonsense CFTR

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