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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Infant, Newborn, Diseases (D007232)
Parent Node: Lung Diseases (D008171)
Parent Node: Pancreatic Diseases (D010182)
..Starting node ..Cystic Fibrosis (D003550)
Child Nodes:
........Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality (C565658)
........CYSTIC FIBROSIS, MODIFIER OF, 1 (OMIM:603855)
........Follicular hamartoma alopecia cystic fibrosis (C537071)
........Lubani Al Saleh Teebi syndrome (C537039)
Sister Nodes:
..Annular pancreas (C536376)
..Congenital Hyperinsulinism (D044903) 2
..Cystic Fibrosis (D003550) 4
..Exocrine Pancreatic Insufficiency (D010188) 3
..Johanson Blizzard syndrome (C535880)
..Pancreatic Agenesis, Congenital (C564908)
..Pancreatic Cyst (D010181) 2
..Pancreatic Fistula (D010185)
..Pancreatic lipomatosis duodenal stenosis (C535839)
..Pancreatic Neoplasms (D010190) 20
..Pancreatitis (D010195) 8
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2936

Name:

Cystic Fibrosis

Definition:

An autosomal recessive genetic disease of the EXOCRINE GLANDS. It is caused by mutations in the gene encoding the CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR expressed in several organs including the LUNG, the PANCREAS, the BILIARY SYSTEM, and the SWEAT GLANDS. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in AIRWAY OBSTRUCTION; chronic RESPIRATORY INFECTIONS; PANCREATIC INSUFFICIENCY; maldigestion; salt depletion; and HEAT PROSTRATION.

Alternative IDs:

OMIM:219700

ParentIDs:

MESH:D007232|MESH:D008171|MESH:D010182|MESH:D030342

TreeNumbers:

C06.689.202 |C08.381.187 |C16.320.190 |C16.614.213

Synonyms:

Slim Mappings:

Digestive system disease|Genetic disease (inborn)|Infant-newborn disease|Respiratory tract disease

Reference:

MedGen: D003550
MeSH: D003550
OMIM: 219700;

Genes: CFTR; FCGR2A; TGFB1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002099	Asthma
3	HP:0002613	Biliary cirrhosis
4	HP:0002110	Bronchiectasis
5	HP:0006528	Chronic lung disease
6	HP:0001648	Cor pulmonale
7	HP:0001944	Dehydration	HP:0040283
8	HP:0012236	Elevated sweat chloride
9	HP:0001738	Exocrine pancreatic insufficiency	HP:0040282
10	HP:0001508	Failure to thrive
11	HP:0002150	Hypercalciuria
12	HP:0003251	Male infertility
13	HP:0004401	Meconium ileus
14	HP:0002035	Rectal prolapse
15	HP:0006538	Recurrent bronchopulmonary infections
16	HP:0006532	Recurrent pneumonia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000492.3(CFTR):c.-887C>T	1080	CFTR	not provided	34465975	RCV000043696;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117119262	117119262	NM_000492.3:c.-887C>T		NC_000007.13:g.117119262C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.-887_-885del	1080	CFTR	not provided	397507564	RCV000043697;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117119262	117119264	NM_000492.3:c.-887_-885del		NC_000007.13:g.117119262_117119264delCTC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.-812T>G	1080	CFTR	Likely benign	181008242	RCV000043698;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117119337	117119337	NM_000492.3:c.-812T>G		NC_000007.13:g.117119337T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.-495C>T	1080	CFTR	not provided	397507565	RCV000043699;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117119654	117119654	NM_000492.3:c.-495C>T		NC_000007.13:g.117119654C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.-461A>G	1080	CFTR	Likely benign	185028612	RCV000169416;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117119688	117119688	NM_000492.3:c.-461A>G		NC_000007.13:g.117119688A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.-226G>T	1080	CFTR	not provided	73717525	RCV000043700;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117119923	117119923	NM_000492.3:c.-226G>T		NC_000007.13:g.117119923G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.-102A=	1080	CFTR	Pathogenic	-1	RCV000007647;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120047	117120047	NM_000492.3:c.-102A=		7:g.117120047A>A	OMIM Allelic Variant:602421.0122	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.-9_14del23	1080	CFTR	Pathogenic	397508136	RCV000046190;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120140	117120162	NM_000492.3:c.-9_14del23		NC_000007.13:g.117120140_117120162del23	CFTR2:259	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.-4G>C	1080	CFTR	Likely benign	369326781	RCV000046189; RCV000173140;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117120145	117120145	NM_000492.3:c.-4G>C		NC_000007.13:g.117120145G>C	-	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.1A>G (p.Met1Val)	1080	CFTR	Pathogenic	397508328	RCV000056356;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120149	117120149	NM_000492.3:c.1A>G	NP_000483.3:p.Met1Val	NC_000007.13:g.117120149A>G	CFTR2:M1V	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2T>A (p.Met1Lys)	1080	CFTR	not provided	397508476	RCV000046750;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120150	117120150	NM_000492.3:c.2T>A	NP_000483.3:p.Met1Lys	NC_000007.13:g.117120150T>A,NC_000007.13:g.117120150T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2T>C (p.Met1Thr)	1080	CFTR	Likely pathogenic	397508476	RCV000046751;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120150	117120150	NM_000492.3:c.2T>C	NP_000483.3:p.Met1Thr	NC_000007.13:g.117120150T>A,NC_000007.13:g.117120150T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3G>A (p.Met1Ile)	1080	CFTR	not provided	397508657	RCV000047052;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120151	117120151	NM_000492.3:c.3G>A	NP_000483.3:p.Met1Ile	NC_000007.13:g.117120151G>A,NC_000007.13:g.117120151G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3G>T (p.Met1Ile)	1080	CFTR	not provided	397508657	RCV000047053;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120151	117120151	NM_000492.3:c.3G>T	NP_000483.3:p.Met1Ile	NC_000007.13:g.117120151G>A,NC_000007.13:g.117120151G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4C>T (p.Gln2Ter)	1080	CFTR	not provided	397508740	RCV000047171;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120152	117120152	NM_000492.3:c.4C>T	NP_000483.3:p.Gln2Ter	NC_000007.13:g.117120152C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4_53+69del119ins299	1080	CFTR	not provided	-1	RCV000047172;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120152	117120270	NM_000492.3:c.4_53+69del119ins299			-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.11C>A (p.Ser4Ter)	1080	CFTR	Pathogenic	397508173	RCV000046255;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120159	117120159	NM_000492.3:c.11C>A	NP_000483.3:p.Ser4Ter	NC_000007.13:g.117120159C>A	CFTR2:234	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.14C>T (p.Pro5Leu)	1080	CFTR	Likely pathogenic;Pathogenic	193922501	RCV000029477;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120162	117120162	NM_000492.3:c.14C>T	NP_000483.3:p.Pro5Leu	NC_000007.13:g.117120162C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.19G>T (p.Glu7Ter)	1080	CFTR	Pathogenic	121909045	RCV000007657;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120167	117120167	NM_000492.3:c.19G>T	NP_000483.3:p.Glu7Ter	NC_000007.13:g.117120167G>T	OMIM Allelic Variant:602421.0131	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe)	1080	CFTR	not provided	397508635	RCV000047023;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120186	117120186	NM_000492.3:c.38C>T	NP_000483.3:p.Ser13Phe	NC_000007.13:g.117120186C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.40A>T (p.Lys14Ter)	1080	CFTR	not provided	397508673	RCV000047073;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120188	117120188	NM_000492.3:c.40A>T	NP_000483.3:p.Lys14Ter	NC_000007.13:g.117120188A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.42delA (p.Lys14Asnfs)	1080	CFTR	not provided	397508710	RCV000047126;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120190	117120190	NM_000492.3:c.42delA	NP_000483.3:p.Lys14Asnfs	NC_000007.13:g.117120190delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.43delC (p.Leu15Phefs)	1080	CFTR	not provided	397508715	RCV000047133;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120191	117120191	NM_000492.3:c.43delC	NP_000483.3:p.Leu15Phefs	NC_000007.13:g.117120191delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.44dupT (p.Ser18Glnfs)	1080	CFTR	not provided	397508714	RCV000047132;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120192	117120192	NM_000492.3:c.44dupT	NP_000483.3:p.Ser18Glnfs	NC_000007.13:g.117120192dupT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.49_50dupTT (p.Trp19Alafs)	1080	CFTR	Pathogenic	397508739	RCV000047170;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120197	117120198	NM_000492.3:c.49_50dupTT	NP_000483.3:p.Trp19Alafs	NC_000007.13:g.117120197_117120198dupTT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.50delT (p.Phe17Serfs)	1080	CFTR	Pathogenic	397508742	RCV000047175;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120198	117120198	NM_000492.3:c.50delT	NP_000483.3:p.Phe17Serfs	NC_000007.13:g.117120198delT	CFTR2:245	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.53+1G>T	1080	CFTR	Pathogenic	397508746	RCV000047179;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120202	117120202	NM_000492.3:c.53+1G>T		NC_000007.13:g.117120202G>T	CFTR2:251	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.53+4A>T	1080	CFTR	not provided	372610364	RCV000047180;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117120205	117120205	NM_000492.3:c.53+4A>T		NC_000007.13:g.117120205A>T	-	C0010674 219700 Cystic fibrosis
NG_016465.3:g.(37526_37529)_(58606_58609)	1080	CFTR	Pathogenic	-1	RCV000007648;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117138363	117159446	-	-		OMIM Allelic Variant:602421.0123,dbVar:nssv1414996,dbVar:nsv513768	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.54-1161_164+1603del2875	1080	CFTR	not provided	-1	RCV000047186;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117143146	117146020	NM_000492.3:c.54-1161_164+1603del2875			-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.54-13C>G	1080	CFTR	not provided	397508749	RCV000047187;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144294	117144294	NM_000492.3:c.54-13C>G		NC_000007.13:g.117144294C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.54_164del111 (p.Ser18_Glu54del)	1080	CFTR	not provided	-1	RCV000047190;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144307	117144417	NM_000492.3:c.54_164del111	NP_000483.3:p.Ser18_Glu54del		-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.57G>T (p.Trp19Cys)	1080	CFTR	not provided	397508762	RCV000047206;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144310	117144310	NM_000492.3:c.57G>T	NP_000483.3:p.Trp19Cys	NC_000007.13:g.117144310G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.72G>C (p.Leu24Phe)	1080	CFTR	not provided	55773134	RCV000047243;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144325	117144325	NM_000492.3:c.72G>C	NP_000483.3:p.Leu24Phe	NC_000007.13:g.117144325G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.79G>A (p.Gly27Arg)	1080	CFTR	not provided	397508796	RCV000047255;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144332	117144332	NM_000492.3:c.79G>A	NP_000483.3:p.Gly27Arg	NC_000007.13:g.117144332G>A,NC_000007.13:g.117144332G>C,NC_000007.13:g.117144332	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.79G>C (p.Gly27Arg)	1080	CFTR	not provided	397508796	RCV000047256;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144332	117144332	NM_000492.3:c.79G>C	NP_000483.3:p.Gly27Arg	NC_000007.13:g.117144332G>A,NC_000007.13:g.117144332G>C,NC_000007.13:g.117144332	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.79G>T (p.Gly27Ter)	1080	CFTR	Pathogenic	397508796	RCV000047257;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144332	117144332	NM_000492.3:c.79G>T	NP_000483.3:p.Gly27Ter	NC_000007.13:g.117144332G>A,NC_000007.13:g.117144332G>C,NC_000007.13:g.117144332	CFTR2:239	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.80G>A (p.Gly27Glu)	1080	CFTR	not provided	397508797	RCV000047260;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144333	117144333	NM_000492.3:c.80G>A	NP_000483.3:p.Gly27Glu	NC_000007.13:g.117144333G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.80delG (p.Gly27Aspfs)	1080	CFTR	not provided	397508798	RCV000047261;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144333	117144333	NM_000492.3:c.80delG	NP_000483.3:p.Gly27Aspfs	NC_000007.13:g.117144333delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.88C>T (p.Gln30Ter)	1080	CFTR	not provided	397508815	RCV000047281;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144341	117144341	NM_000492.3:c.88C>T	NP_000483.3:p.Gln30Ter	NC_000007.13:g.117144341C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys)	1080	CFTR	Uncertain significance	1800073	RCV000029548;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144344	117144344	NM_000492.3:c.91C>T	NP_000483.3:p.Arg31Cys	NC_000007.13:g.117144344C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.92G>T (p.Arg31Leu)	1080	CFTR	not provided	149353983	RCV000047288;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144345	117144345	NM_000492.3:c.92G>T	NP_000483.3:p.Arg31Leu	NC_000007.13:g.117144345G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.95T>C (p.Leu32Pro)	1080	CFTR	not provided	397508821	RCV000047298;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144348	117144348	NM_000492.3:c.95T>C	NP_000483.3:p.Leu32Pro	NC_000007.13:g.117144348T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.100_117del18 (p.Leu34_Gln39del)	1080	CFTR	not provided	397508141	RCV000046197;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144353	117144370	NM_000492.3:c.100_117del18	NP_000483.3:p.Leu34_Gln39del	NC_000007.13:g.117144353_117144370del18	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.105dupA (p.Asp36Argfs)	1080	CFTR	not provided	397508149	RCV000046217;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144358	117144358	NM_000492.3:c.105dupA	NP_000483.3:p.Asp36Argfs	NC_000007.13:g.117144358dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.112_113delTA (p.Tyr38Profs)	1080	CFTR	not provided	397508162	RCV000046242;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144365	117144366	NM_000492.3:c.112_113delTA	NP_000483.3:p.Tyr38Profs	NC_000007.13:g.117144365_117144366delTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.114C>G (p.Tyr38Ter)	1080	CFTR	Likely pathogenic	193922498	RCV000029470;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144367	117144367	NM_000492.3:c.114C>G	NP_000483.3:p.Tyr38Ter	NC_000007.13:g.117144367C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.115C>T (p.Gln39Ter)	1080	CFTR	Pathogenic	397508168	RCV000056342;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144368	117144368	NM_000492.3:c.115C>T	NP_000483.3:p.Gln39Ter	NC_000007.13:g.117144368C>T	CFTR2:Q39X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.125C>T (p.Ser42Phe)	1080	CFTR	Uncertain significance	143456784	RCV000029472;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144378	117144378	NM_000492.3:c.125C>T	NP_000483.3:p.Ser42Phe	NC_000007.13:g.117144378C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.131A>G (p.Asp44Gly)	1080	CFTR	not provided	1800074	RCV000046272;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144384	117144384	NM_000492.3:c.131A>G	NP_000483.3:p.Asp44Gly	NC_000007.13:g.117144384A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.137C>A (p.Ala46Asp)	1080	CFTR	Pathogenic	151020603	RCV000046286;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144390	117144390	NM_000492.3:c.137C>A	NP_000483.3:p.Ala46Asp	NC_000007.13:g.117144390C>A	CFTR2:192	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.148T>C (p.Ser50Pro)	1080	CFTR	not provided	397508217	RCV000046319;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144401	117144401	NM_000492.3:c.148T>C	NP_000483.3:p.Ser50Pro	NC_000007.13:g.117144401T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.149C>A (p.Ser50Tyr)	1080	CFTR	not provided	397508220	RCV000046322;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144402	117144402	NM_000492.3:c.149C>A	NP_000483.3:p.Ser50Tyr	NC_000007.13:g.117144402C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.164+1G>A	1080	CFTR	Pathogenic	397508243	RCV000046367;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144418	117144418	NM_000492.3:c.164+1G>A		NC_000007.13:g.117144418G>A,NC_000007.13:g.117144418G>C,NC_000007.13:g.117144418	CFTR2:279	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.164+1G>C	1080	CFTR	not provided	397508243	RCV000046368;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144418	117144418	NM_000492.3:c.164+1G>C		NC_000007.13:g.117144418G>A,NC_000007.13:g.117144418G>C,NC_000007.13:g.117144418	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.164+1G>T	1080	CFTR	not provided	397508243	RCV000046369;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144418	117144418	NM_000492.3:c.164+1G>T		NC_000007.13:g.117144418G>A,NC_000007.13:g.117144418G>C,NC_000007.13:g.117144418	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.164+2T>C	1080	CFTR	not provided	121908800	RCV000046370;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144419	117144419	NM_000492.3:c.164+2T>C		NC_000007.13:g.117144419T>A,NC_000007.13:g.117144419T>C,NC_000007.13:g.117144419	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.164+2T>G	1080	CFTR	not provided	121908800	RCV000046371;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144419	117144419	NM_000492.3:c.164+2T>G		NC_000007.13:g.117144419T>A,NC_000007.13:g.117144419T>C,NC_000007.13:g.117144419	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.164+2T>A	1080	CFTR	not provided	121908800	RCV000144411;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144419	117144419	NM_000492.3:c.164+2T>A		NC_000007.13:g.117144419T>A,NC_000007.13:g.117144419T>C,NC_000007.13:g.117144419	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.164+3_164+4insT	1080	CFTR	not provided	397508244	RCV000046372;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144421	117144421	NM_000492.3:c.164+3_164+4insT		NC_000007.13:g.117144421dupT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.164+9A>T	1080	CFTR	not provided	397508245	RCV000046373;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144426	117144426	NM_000492.3:c.164+9A>T		NC_000007.13:g.117144426A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.164+12T>C	1080	CFTR	not provided	121908790	RCV000046366;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117144429	117144429	NM_000492.3:c.164+12T>C		NC_000007.13:g.117144429T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.165-50A>G	1080	CFTR	not provided	369949496	RCV000046386;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149038	117149038	NM_000492.3:c.165-50A>G		NC_000007.13:g.117149038A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.165-10T>G	1080	CFTR	not provided	397508248	RCV000046381;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149078	117149078	NM_000492.3:c.165-10T>G		NC_000007.13:g.117149078T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.165-3C>A	1080	CFTR	not provided	200337193	RCV000046384;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149085	117149085	NM_000492.3:c.165-3C>A		NC_000007.13:g.117149085C>A,NC_000007.13:g.117149085C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.165-3C>T	1080	CFTR	Likely pathogenic	200337193	RCV000046385;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149085	117149085	NM_000492.3:c.165-3C>T		NC_000007.13:g.117149085C>A,NC_000007.13:g.117149085C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.165-2A>G	1080	CFTR	not provided	397508250	RCV000046383;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149086	117149086	NM_000492.3:c.165-2A>G		NC_000007.13:g.117149086A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.165-1G>A	1080	CFTR	Pathogenic	397508249	RCV000046382;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149087	117149087	NM_000492.3:c.165-1G>A		NC_000007.13:g.117149087G>A	CFTR2:210	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.166G>A (p.Glu56Lys)	1080	CFTR	Pathogenic	397508256	RCV000046399;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149089	117149089	NM_000492.3:c.166G>A	NP_000483.3:p.Glu56Lys	NC_000007.13:g.117149089G>A	CFTR2:170	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.168delA (p.Glu56Aspfs)	1080	CFTR	not provided	397508269	RCV000046424;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149091	117149091	NM_000492.3:c.168delA	NP_000483.3:p.Glu56Aspfs	NC_000007.13:g.117149091delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.169T>C (p.Trp57Arg)	1080	CFTR	not provided	397508272	RCV000046428;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149092	117149092	NM_000492.3:c.169T>C	NP_000483.3:p.Trp57Arg	NC_000007.13:g.117149092T>C,NC_000007.13:g.117149092T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.169T>G (p.Trp57Gly)	1080	CFTR	not provided	397508272	RCV000046429;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149092	117149092	NM_000492.3:c.169T>G	NP_000483.3:p.Trp57Gly	NC_000007.13:g.117149092T>C,NC_000007.13:g.117149092T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.170G>A (p.Trp57Ter)	1080	CFTR	Pathogenic	397508279	RCV000046437;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149093	117149093	NM_000492.3:c.170G>A	NP_000483.3:p.Trp57Ter	NC_000007.13:g.117149093G>A	CFTR2:258	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.171G>A (p.Trp57Ter)	1080	CFTR	Pathogenic	121909025	RCV000007599;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149094	117149094	NM_000492.3:c.171G>A	NP_000483.3:p.Trp57Ter	NC_000007.13:g.117149094G>A	CFTR2:258_1,OMIM Allelic Variant:602421.0075	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.172G>A (p.Asp58Asn)	1080	CFTR	not provided	397508285	RCV000046446;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149095	117149095	NM_000492.3:c.172G>A	NP_000483.3:p.Asp58Asn	NC_000007.13:g.117149095G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.173A>G (p.Asp58Gly)	1080	CFTR	not provided	397508291	RCV000046454;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149096	117149096	NM_000492.3:c.173A>G	NP_000483.3:p.Asp58Gly	NC_000007.13:g.117149096A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.174_177delTAGA (p.Asp58Glufs)	1080	CFTR	not provided	397508295	RCV000046459;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149097	117149100	NM_000492.3:c.174_177delTAGA	NP_000483.3:p.Asp58Glufs	NC_000007.13:g.117149097_117149100delTAGA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.175dupA (p.Arg59Lysfs)	1080	CFTR	Pathogenic	397508294	RCV000046458;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149098	117149098	NM_000492.3:c.175dupA	NP_000483.3:p.Arg59Lysfs	NC_000007.13:g.117149098dupA	CFTR2:191	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.178G>T (p.Glu60Ter)	1080	CFTR	Pathogenic	77284892	RCV000056355;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149101	117149101	NM_000492.3:c.178G>T	NP_000483.3:p.Glu60Ter	NC_000007.13:g.117149101G>A,NC_000007.13:g.117149101G>T	CFTR2:E60X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.178G>A (p.Glu60Lys)	1080	CFTR	not provided	77284892	RCV000046474;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149101	117149101	NM_000492.3:c.178G>A	NP_000483.3:p.Glu60Lys	NC_000007.13:g.117149101G>A,NC_000007.13:g.117149101G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu)	1080	CFTR	Pathogenic	368505753	RCV000056357;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149123	117149123	NM_000492.3:c.200C>T	NP_000483.3:p.Pro67Leu	NC_000007.13:g.117149123C>T	CFTR2:P67L	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu)	1080	CFTR	not provided	397508332	RCV000046524;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149125	117149125	NM_000492.3:c.202A>G	NP_000483.3:p.Lys68Glu	NC_000007.13:g.117149125A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.204A>T (p.Lys68Asn)	1080	CFTR	not provided	397508335	RCV000046527;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149127	117149127	NM_000492.3:c.204A>T	NP_000483.3:p.Lys68Asn	NC_000007.13:g.117149127A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.215C>A (p.Ala72Asp)	1080	CFTR	not provided	397508347	RCV000046545;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149138	117149138	NM_000492.3:c.215C>A	NP_000483.3:p.Ala72Asp	NC_000007.13:g.117149138C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.217delC (p.Leu73Phefs)	1080	CFTR	not provided	397508348	RCV000046549;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149140	117149140	NM_000492.3:c.217delC	NP_000483.3:p.Leu73Phefs	NC_000007.13:g.117149140delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp)	1080	CFTR	Likely pathogenic	115545701	RCV000177071; RCV000177073; RCV000177072;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0238339,OMIM:167800,SNOMED CT:68072000; MedGen:C0403814,OMIM:277180,ORPHA:48	7	117149143	117149143	NM_000492.3:c.220C>T	NP_000483.3:p.Arg74Trp	NC_000007.13:g.117149143C>T	-	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis; C0238339 167800 Hereditary pancreatitis
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln)	1080	CFTR	Uncertain significance	142540482	RCV000046556; RCV000177074;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117149144	117149144	NM_000492.3:c.221G>A	NP_000483.3:p.Arg74Gln	NC_000007.13:g.117149144G>A	-	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.223C>T (p.Arg75Ter)	1080	CFTR	Pathogenic	121908749	RCV000056362;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149146	117149146	NM_000492.3:c.223C>T	NP_000483.3:p.Arg75Ter	NC_000007.13:g.117149146C>T	CFTR2:R75X,Cystic Fibrosis Mutation Database:50	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln)	1080	CFTR	Benign;Pathogenic;Uncertain significance	1800076	RCV000029494; RCV000119039; RCV000078985; RCV000116686;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0238339,OMIM:167800,SNOMED CT:68072000; MedGen:CN169374; MedGen:CN221809	7	117149147	117149147	NM_000492.3:c.224G>A	NP_000483.3:p.Arg75Gln	NC_000007.13:g.117149147G>A,NC_000007.13:g.117149147G>T	HGMD:CM980331	C0010674 219700 Cystic fibrosis; C0238339 167800 Hereditary pancreatitis; CN221809 not provided; CN169374 not specified
NM_000492.3(CFTR):c.224G>T (p.Arg75Leu)	1080	CFTR	not provided	1800076	RCV000046562;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149147	117149147	NM_000492.3:c.224G>T	NP_000483.3:p.Arg75Leu	NC_000007.13:g.117149147G>A,NC_000007.13:g.117149147G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.233dupT (p.Trp79Leufs)	1080	CFTR	Pathogenic	397508360	RCV000046577;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149156	117149156	NM_000492.3:c.233dupT	NP_000483.3:p.Trp79Leufs	NC_000007.13:g.117149156dupT	CFTR2:275	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.233delT (p.Phe78Serfs)	1080	CFTR	not provided	397508367	RCV000046578;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149156	117149156	NM_000492.3:c.233delT	NP_000483.3:p.Phe78Serfs	NC_000007.13:g.117149156delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.235T>C (p.Trp79Arg)	1080	CFTR	not provided	397508370	RCV000046583;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149158	117149158	NM_000492.3:c.235T>C	NP_000483.3:p.Trp79Arg	NC_000007.13:g.117149158T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.236G>A (p.Trp79Ter)	1080	CFTR	not provided	397508371	RCV000046584;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149159	117149159	NM_000492.3:c.236G>A	NP_000483.3:p.Trp79Ter	NC_000007.13:g.117149159G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.254G>A (p.Gly85Glu)	1080	CFTR	Pathogenic	75961395	RCV000007563;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149177	117149177	NM_000492.3:c.254G>A	NP_000483.3:p.Gly85Glu	NC_000007.13:g.117149177G>A,NC_000007.13:g.117149177G>T	CFTR2:G85E,OMIM Allelic Variant:602421.0038	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.254G>T (p.Gly85Val)	1080	CFTR	not provided	75961395	RCV000046617;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149177	117149177	NM_000492.3:c.254G>T	NP_000483.3:p.Gly85Val	NC_000007.13:g.117149177G>A,NC_000007.13:g.117149177G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.259T>A (p.Phe87Ile)	1080	CFTR	not provided	397508403	RCV000046628;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149182	117149182	NM_000492.3:c.259T>A	NP_000483.3:p.Phe87Ile	NC_000007.13:g.117149182T>A,NC_000007.13:g.117149182T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.259T>C (p.Phe87Leu)	1080	CFTR	not provided	397508403	RCV000046629;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149182	117149182	NM_000492.3:c.259T>C	NP_000483.3:p.Phe87Leu	NC_000007.13:g.117149182T>A,NC_000007.13:g.117149182T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.262_263delTT (p.Leu88Ilefs)	1080	CFTR	Pathogenic	121908769	RCV000007654;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149185	117149186	NM_000492.3:c.262_263delTT	NP_000483.3:p.Leu88Ilefs	NC_000007.13:g.117149185_117149186delTT	CFTR2:394delTT,OMIM Allelic Variant:602421.0128	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.263T>A (p.Leu88Ter)	1080	CFTR	not provided	397508412	RCV000046642;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149186	117149186	NM_000492.3:c.263T>A	NP_000483.3:p.Leu88Ter	NC_000007.13:g.117149186T>A,NC_000007.13:g.117149186T>C,NC_000007.13:g.117149186	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.263T>C (p.Leu88Ser)	1080	CFTR	not provided	397508412	RCV000046643;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149186	117149186	NM_000492.3:c.263T>C	NP_000483.3:p.Leu88Ser	NC_000007.13:g.117149186T>A,NC_000007.13:g.117149186T>C,NC_000007.13:g.117149186	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.263T>G (p.Leu88Ter)	1080	CFTR	not provided	397508412	RCV000046644;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149186	117149186	NM_000492.3:c.263T>G	NP_000483.3:p.Leu88Ter	NC_000007.13:g.117149186T>A,NC_000007.13:g.117149186T>C,NC_000007.13:g.117149186	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.266A>G (p.Tyr89Cys)	1080	CFTR	not provided	397508418	RCV000046653;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149189	117149189	NM_000492.3:c.266A>G	NP_000483.3:p.Tyr89Cys	NC_000007.13:g.117149189A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.269T>C (p.Leu90Ser)	1080	CFTR	not provided	397508421	RCV000046657;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149192	117149192	NM_000492.3:c.269T>C	NP_000483.3:p.Leu90Ser	NC_000007.13:g.117149192T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.271G>A (p.Gly91Arg)	1080	CFTR	Pathogenic	121908750	RCV000007603;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149194	117149194	NM_000492.3:c.271G>A	NP_000483.3:p.Gly91Arg	NC_000007.13:g.117149194G>A	OMIM Allelic Variant:602421.0079	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.273+1G>A	1080	CFTR	Pathogenic	121908791	RCV000056369;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149197	117149197	NM_000492.3:c.273+1G>A		NC_000007.13:g.117149197G>A	CFTR2:405+1G->A	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.273+3A>C	1080	CFTR	Pathogenic	74467662	RCV000029501;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149199	117149199	NM_000492.3:c.273+3A>C		NC_000007.13:g.117149199A>C	CFTR2:282	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.273+4A>G	1080	CFTR	Pathogenic	387906374	RCV000007620;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117149200	117149200	NM_000492.3:c.273+4A>G		NC_000007.13:g.117149200A>G	OMIM Allelic Variant:602421.0093	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.273+10255delC	1080	CFTR	Uncertain significance	193922507	RCV000029500;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117159451	117159451	NM_000492.3:c.273+10255delC		NC_000007.13:g.117159451delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.274-10C>G	1080	CFTR	not provided	397508425	RCV000046671;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170943	117170943	NM_000492.3:c.274-10C>G		NC_000007.13:g.117170943C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.274-2A>G	1080	CFTR	not provided	397508426	RCV000046675;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170951	117170951	NM_000492.3:c.274-2A>G		NC_000007.13:g.117170951A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.274-1G>A	1080	CFTR	Pathogenic	121908792	RCV000056370;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170952	117170952	NM_000492.3:c.274-1G>A		NC_000007.13:g.117170952G>A,NC_000007.13:g.117170952G>C,NC_000007.13:g.117170952	CFTR2:406-1G->A,Cystic Fibrosis Mutation Database:885	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.274-1G>C	1080	CFTR	not provided	121908792	RCV000046673;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170952	117170952	NM_000492.3:c.274-1G>C		NC_000007.13:g.117170952G>A,NC_000007.13:g.117170952G>C,NC_000007.13:g.117170952	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.274-1G>T	1080	CFTR	not provided	121908792	RCV000046674;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170952	117170952	NM_000492.3:c.274-1G>T		NC_000007.13:g.117170952G>A,NC_000007.13:g.117170952G>C,NC_000007.13:g.117170952	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.274G>A (p.Glu92Lys)	1080	CFTR	Pathogenic	121908751	RCV000007601;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170953	117170953	NM_000492.3:c.274G>A	NP_000483.3:p.Glu92Lys	NC_000007.13:g.117170953G>A,NC_000007.13:g.117170953G>T	CFTR2:E92K,OMIM Allelic Variant:602421.0077	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.274G>T (p.Glu92Ter)	1080	CFTR	Pathogenic	121908751	RCV000007606;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170953	117170953	NM_000492.3:c.274G>T	NP_000483.3:p.Glu92Ter	NC_000007.13:g.117170953G>A,NC_000007.13:g.117170953G>T	CFTR2:E92X,OMIM Allelic Variant:602421.0082	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.276A>T (p.Glu92Asp)	1080	CFTR	not provided	397508432	RCV000046685;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170955	117170955	NM_000492.3:c.276A>T	NP_000483.3:p.Glu92Asp	NC_000007.13:g.117170955A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.287C>A (p.Ala96Glu)	1080	CFTR	not provided	397508449	RCV000046708;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170966	117170966	NM_000492.3:c.287C>A	NP_000483.3:p.Ala96Glu	NC_000007.13:g.117170966C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.292C>T (p.Gln98Ter)	1080	CFTR	Pathogenic	397508461	RCV000056375;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170971	117170971	NM_000492.3:c.292C>T	NP_000483.3:p.Gln98Ter	NC_000007.13:g.117170971C>T	CFTR2:Q98X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.293A>C (p.Gln98Pro)	1080	CFTR	not provided	397508464	RCV000046730;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170972	117170972	NM_000492.3:c.293A>C	NP_000483.3:p.Gln98Pro	NC_000007.13:g.117170972A>C,NC_000007.13:g.117170972A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg)	1080	CFTR	not provided	397508464	RCV000046731;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170972	117170972	NM_000492.3:c.293A>G	NP_000483.3:p.Gln98Arg	NC_000007.13:g.117170972A>C,NC_000007.13:g.117170972A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.296C>T (p.Pro99Leu)	1080	CFTR	not provided	397508467	RCV000046735;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170975	117170975	NM_000492.3:c.296C>T	NP_000483.3:p.Pro99Leu	NC_000007.13:g.117170975C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.302T>C (p.Leu101Ser)	1080	CFTR	not provided	397508484	RCV000046761;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170981	117170981	NM_000492.3:c.302T>C	NP_000483.3:p.Leu101Ser	NC_000007.13:g.117170981T>C,NC_000007.13:g.117170981T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.302T>G (p.Leu101Ter)	1080	CFTR	not provided	397508484	RCV000046762;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170981	117170981	NM_000492.3:c.302T>G	NP_000483.3:p.Leu101Ter	NC_000007.13:g.117170981T>C,NC_000007.13:g.117170981T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.303dupA (p.Leu102Thrfs)	1080	CFTR	not provided	397508486	RCV000046766;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170982	117170982	NM_000492.3:c.303dupA	NP_000483.3:p.Leu102Thrfs	NC_000007.13:g.117170982dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.305T>C (p.Leu102Pro)	1080	CFTR	not provided	397508490	RCV000046771;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170984	117170984	NM_000492.3:c.305T>C	NP_000483.3:p.Leu102Pro	NC_000007.13:g.117170984T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.310delA (p.Arg104Glufs)	1080	CFTR	Pathogenic	397508499	RCV000046784;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170989	117170989	NM_000492.3:c.310delA	NP_000483.3:p.Arg104Glufs	NC_000007.13:g.117170989delA	CFTR2:271	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.313delA (p.Ile105Serfs)	1080	CFTR	Pathogenic	121908801	RCV000046792;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170992	117170992	NM_000492.3:c.313delA	NP_000483.3:p.Ile105Serfs	NC_000007.13:g.117170992delA	CFTR2:182,Cystic Fibrosis Mutation Database:79	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.314T>A (p.Ile105Asn)	1080	CFTR	not provided	397508509	RCV000046798;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170993	117170993	NM_000492.3:c.314T>A	NP_000483.3:p.Ile105Asn	NC_000007.13:g.117170993T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.319_326delGCTTCCTA (p.Ala107Terfs)	1080	CFTR	not provided	397508516	RCV000046819;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117170998	117171005	NM_000492.3:c.319_326delGCTTCCTA	NP_000483.3:p.Ala107Terfs	NC_000007.13:g.117170998_117171005delGCTTCCTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.323C>T (p.Ser108Phe)	1080	CFTR	not provided	397508520	RCV000046833;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171002	117171002	NM_000492.3:c.323C>T	NP_000483.3:p.Ser108Phe	NC_000007.13:g.117171002C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.325T>A (p.Tyr109Asn)	1080	CFTR	not provided	397508522	RCV000046837;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171004	117171004	NM_000492.3:c.325T>A	NP_000483.3:p.Tyr109Asn	NC_000007.13:g.117171004T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.325_327delTATinsG (p.Tyr109Glyfs)	1080	CFTR	Pathogenic	121908798	RCV000056378;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171004	117171006	NM_000492.3:c.325_327delTATinsG	NP_000483.3:p.Tyr109Glyfs	NC_000007.13:g.117171004_117171006delTATinsG	CFTR2:457TAT->G	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.326A>G (p.Tyr109Cys)	1080	CFTR	Pathogenic	121909031	RCV000007618;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171005	117171005	NM_000492.3:c.326A>G	NP_000483.3:p.Tyr109Cys	NC_000007.13:g.117171005A>G	OMIM Allelic Variant:602421.0091	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.326_327delAT (p.Tyr109Terfs)	1080	CFTR	not provided	397508526	RCV000046844;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171005	117171006	NM_000492.3:c.326_327delAT	NP_000483.3:p.Tyr109Terfs	NC_000007.13:g.117171005_117171006delAT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.327T>A (p.Tyr109Ter)	1080	CFTR	not provided	397508528	RCV000046848;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171006	117171006	NM_000492.3:c.327T>A	NP_000483.3:p.Tyr109Ter	NC_000007.13:g.117171006T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.328G>C (p.Asp110His)	1080	CFTR	Pathogenic	113993958	RCV000007527; RCV000058930;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117171007	117171007	NM_000492.3:c.328G>C	NP_000483.3:p.Asp110His	NC_000007.13:g.117171007G>C,NC_000007.13:g.117171007G>T	CFTR2:D110H,OMIM Allelic Variant:602421.0004	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr)	1080	CFTR	not provided	113993958	RCV000046852;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171007	117171007	NM_000492.3:c.328G>T	NP_000483.3:p.Asp110Tyr	NC_000007.13:g.117171007G>C,NC_000007.13:g.117171007G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.328delG (p.Asp110Thrfs)	1080	CFTR	not provided	397508530	RCV000046853;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171007	117171007	NM_000492.3:c.328delG	NP_000483.3:p.Asp110Thrfs	NC_000007.13:g.117171007delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.330C>A (p.Asp110Glu)	1080	CFTR	not provided	397508537	RCV000046862;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171009	117171009	NM_000492.3:c.330C>A	NP_000483.3:p.Asp110Glu	NC_000007.13:g.117171009C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.331C>G (p.Pro111Ala)	1080	CFTR	not provided	397508541	RCV000046866;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171010	117171010	NM_000492.3:c.331C>G	NP_000483.3:p.Pro111Ala	NC_000007.13:g.117171010C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu)	1080	CFTR	not provided	140502196	RCV000046868;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171011	117171011	NM_000492.3:c.332C>T	NP_000483.3:p.Pro111Leu	NC_000007.13:g.117171011C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.338A>T (p.Asn113Ile)	1080	CFTR	not provided	397508551	RCV000046879;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171017	117171017	NM_000492.3:c.338A>T	NP_000483.3:p.Asn113Ile	NC_000007.13:g.117171017A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.340A>T (p.Lys114Ter)	1080	CFTR	not provided	397508554	RCV000046882;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171019	117171019	NM_000492.3:c.340A>T	NP_000483.3:p.Lys114Ter	NC_000007.13:g.117171019A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.343_345delGAG (p.Glu116del)	1080	CFTR	not provided	397508563	RCV000046891;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171022	117171024	NM_000492.3:c.343_345delGAG	NP_000483.3:p.Glu116del	NC_000007.13:g.117171022_117171024delGAG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.346G>A (p.Glu116Lys)	1080	CFTR	not provided	397508571	RCV000046904;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171025	117171025	NM_000492.3:c.346G>A	NP_000483.3:p.Glu116Lys	NC_000007.13:g.117171025G>A,NC_000007.13:g.117171025G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.346G>C (p.Glu116Gln)	1080	CFTR	not provided	397508571	RCV000046905;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171025	117171025	NM_000492.3:c.346G>C	NP_000483.3:p.Glu116Gln	NC_000007.13:g.117171025G>A,NC_000007.13:g.117171025G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.349C>T (p.Arg117Cys)	1080	CFTR	Pathogenic	77834169	RCV000056382;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171028	117171028	NM_000492.3:c.349C>T	NP_000483.3:p.Arg117Cys	NC_000007.13:g.117171028C>G,NC_000007.13:g.117171028C>T	CFTR2:R117C	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly)	1080	CFTR	not provided	77834169	RCV000046914;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171028	117171028	NM_000492.3:c.349C>G	NP_000483.3:p.Arg117Gly	NC_000007.13:g.117171028C>G,NC_000007.13:g.117171028C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.350G>A (p.Arg117His)	1080	CFTR	Pathogenic	78655421	RCV000007528; RCV000007529; RCV000078997; RCV000190992;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48; MedGen:CN221809	7	117171029	117171029	NM_000492.3:c.350G>A	NP_000483.3:p.Arg117His	NC_000007.13:g.117171029G>A,NC_000007.13:g.117171029G>C,NC_000007.13:g.117171029	CFTR2:219,HGMD:CM900043,OMIM Allelic Variant:602421.0005	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.350G>A (p.Arg117His)	1080	CFTR	Pathogenic	78655421	RCV000007528; RCV000007529; RCV000078997; RCV000190992;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48; MedGen:CN221809	7	117171029	117171029	NM_000492.3:c.350G>A	NP_000483.3:p.Arg117His	NC_000007.13:g.117171029G>A,NC_000007.13:g.117171029G>C,NC_000007.13:g.117171029	CFTR2:219,HGMD:CM900043,OMIM Allelic Variant:602421.0005	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.350G>C (p.Arg117Pro)	1080	CFTR	not provided	78655421	RCV000046918;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171029	117171029	NM_000492.3:c.350G>C	NP_000483.3:p.Arg117Pro	NC_000007.13:g.117171029G>A,NC_000007.13:g.117171029G>C,NC_000007.13:g.117171029	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.350G>T (p.Arg117Leu)	1080	CFTR	not provided	78655421	RCV000046919;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171029	117171029	NM_000492.3:c.350G>T	NP_000483.3:p.Arg117Leu	NC_000007.13:g.117171029G>A,NC_000007.13:g.117171029G>C,NC_000007.13:g.117171029	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.355A>G (p.Ile119Val)	1080	CFTR	Likely pathogenic	193922518	RCV000029525;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171034	117171034	NM_000492.3:c.355A>G	NP_000483.3:p.Ile119Val	NC_000007.13:g.117171034A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.357delC (p.Ile119Metfs)	1080	CFTR	not provided	397508583	RCV000046927;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171036	117171036	NM_000492.3:c.357delC	NP_000483.3:p.Ile119Metfs	NC_000007.13:g.117171036delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.358G>A (p.Ala120Thr)	1080	CFTR	not provided	201958172	RCV000046930;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171037	117171037	NM_000492.3:c.358G>A	NP_000483.3:p.Ala120Thr	NC_000007.13:g.117171037G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.364T>C (p.Tyr122His)	1080	CFTR	not provided	397508592	RCV000046943;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171043	117171043	NM_000492.3:c.364T>C	NP_000483.3:p.Tyr122His	NC_000007.13:g.117171043T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.366T>A (p.Tyr122Ter)	1080	CFTR	Pathogenic	79660178	RCV000056385;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171045	117171045	NM_000492.3:c.366T>A	NP_000483.3:p.Tyr122Ter	NC_000007.13:g.117171045T>A	CFTR2:Y122X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.370G>C (p.Gly124Arg)	1080	CFTR	Likely pathogenic	193922519	RCV000029528;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171049	117171049	NM_000492.3:c.370G>C	NP_000483.3:p.Gly124Arg	NC_000007.13:g.117171049G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr)	1080	CFTR	not provided	141723617	RCV000046969;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171053	117171053	NM_000492.3:c.374T>C	NP_000483.3:p.Ile125Thr	NC_000007.13:g.117171053T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.376G>A (p.Gly126Ser)	1080	CFTR	not provided	397508606	RCV000046978;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171055	117171055	NM_000492.3:c.376G>A	NP_000483.3:p.Gly126Ser	NC_000007.13:g.117171055G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.377G>A (p.Gly126Asp)	1080	CFTR	not provided	397508609	RCV000046983;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171056	117171056	NM_000492.3:c.377G>A	NP_000483.3:p.Gly126Asp	NC_000007.13:g.117171056G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.380_382dupTAT (p.Leu127_Cys128insLeu)	1080	CFTR	Likely pathogenic	193922521	RCV000029532;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171059	117171061	NM_000492.3:c.380_382dupTAT	NP_000483.3:p.Leu127_Cys128insLeu	NC_000007.13:g.117171059_117171061dupTAT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.380T>G (p.Leu127Ter)	1080	CFTR	not provided	397508611	RCV000046987;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171059	117171059	NM_000492.3:c.380T>G	NP_000483.3:p.Leu127Ter	NC_000007.13:g.117171059T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.387delT (p.Leu130Serfs)	1080	CFTR	not provided	397508627	RCV000047013;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171066	117171066	NM_000492.3:c.387delT	NP_000483.3:p.Leu130Serfs	NC_000007.13:g.117171066delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.388C>G (p.Leu130Val)	1080	CFTR	not provided	397508632	RCV000047019;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171067	117171067	NM_000492.3:c.388C>G	NP_000483.3:p.Leu130Val	NC_000007.13:g.117171067C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.393delT (p.Phe131Leufs)	1080	CFTR	not provided	397508647	RCV000047040;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171072	117171072	NM_000492.3:c.393delT	NP_000483.3:p.Phe131Leufs	NC_000007.13:g.117171072delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.409_412delCTCC (p.Leu137Tyrfs)	1080	CFTR	not provided	397508671	RCV000047071;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171088	117171091	NM_000492.3:c.409_412delCTCC	NP_000483.3:p.Leu137Tyrfs	NC_000007.13:g.117171088_117171091delCTCC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.409delC (p.Leu137Serfs)	1080	CFTR	Pathogenic	397508672	RCV000047072;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171088	117171088	NM_000492.3:c.409delC	NP_000483.3:p.Leu137Serfs	NC_000007.13:g.117171088delC	CFTR2:241	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.410T>A (p.Leu137His)	1080	CFTR	not provided	397508674	RCV000047074;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171089	117171089	NM_000492.3:c.410T>A	NP_000483.3:p.Leu137His	NC_000007.13:g.117171089T>A,NC_000007.13:g.117171089T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.410T>G (p.Leu137Arg)	1080	CFTR	not provided	397508674	RCV000047075;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171089	117171089	NM_000492.3:c.410T>G	NP_000483.3:p.Leu137Arg	NC_000007.13:g.117171089T>A,NC_000007.13:g.117171089T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.412_413insACT (p.Leu137_Leu138insHis)	1080	CFTR	not provided	397508679	RCV000047082;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171091	117171092	NM_000492.3:c.412_413insACT	NP_000483.3:p.Leu137_Leu138insHis	NC_000007.13:g.117171091_117171092insACT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.412_414dupCTA (p.Leu138_His139insLeu)	1080	CFTR	not provided	397508686	RCV000047090;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171091	117171093	NM_000492.3:c.412_414dupCTA	NP_000483.3:p.Leu138_His139insLeu	NC_000007.13:g.117171091_117171093dupCTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.415_416insGA (p.His139Argfs)	1080	CFTR	not provided	397508687	RCV000047091;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171094	117171095	NM_000492.3:c.415_416insGA	NP_000483.3:p.His139Argfs	NC_000007.13:g.117171094_117171095insGA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.416A>G (p.His139Arg)	1080	CFTR	not provided	76371115	RCV000047094;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171095	117171095	NM_000492.3:c.416A>G	NP_000483.3:p.His139Arg	NC_000007.13:g.117171095A>G,NC_000007.13:g.117171095A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.416A>T (p.His139Leu)	1080	CFTR	not provided	76371115	RCV000047095;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171095	117171095	NM_000492.3:c.416A>T	NP_000483.3:p.His139Leu	NC_000007.13:g.117171095A>G,NC_000007.13:g.117171095A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.418C>T (p.Pro140Ser)	1080	CFTR	not provided	145900055	RCV000047097;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171097	117171097	NM_000492.3:c.418C>T	NP_000483.3:p.Pro140Ser	NC_000007.13:g.117171097C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.419C>T (p.Pro140Leu)	1080	CFTR	not provided	397508694	RCV000047101;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171098	117171098	NM_000492.3:c.419C>T	NP_000483.3:p.Pro140Leu	NC_000007.13:g.117171098C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.420dupA (p.Ala141Serfs)	1080	CFTR	not provided	397508698	RCV000047107;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171099	117171099	NM_000492.3:c.420dupA	NP_000483.3:p.Ala141Serfs	NC_000007.13:g.117171099dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.422C>A (p.Ala141Asp)	1080	CFTR	not provided	397508700	RCV000047109;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171101	117171101	NM_000492.3:c.422C>A	NP_000483.3:p.Ala141Asp	NC_000007.13:g.117171101C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.424delA (p.Ile142Phefs)	1080	CFTR	Pathogenic	387906363	RCV000007566;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171103	117171103	NM_000492.3:c.424delA	NP_000483.3:p.Ile142Phefs	NC_000007.13:g.117171103delA	OMIM Allelic Variant:602421.0042	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.429delT (p.Phe143Leufs)	1080	CFTR	Pathogenic	387906364	RCV000007567;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171108	117171108	NM_000492.3:c.429delT	NP_000483.3:p.Phe143Leufs	NC_000007.13:g.117171108delT	OMIM Allelic Variant:602421.0043	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.434T>A (p.Leu145His)	1080	CFTR	not provided	397508712	RCV000047129;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171113	117171113	NM_000492.3:c.434T>A	NP_000483.3:p.Leu145His	NC_000007.13:g.117171113T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.437A>G (p.His146Arg)	1080	CFTR	not provided	397508713	RCV000047131;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171116	117171116	NM_000492.3:c.437A>G	NP_000483.3:p.His146Arg	NC_000007.13:g.117171116A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.442delA (p.Ile148Leufs)	1080	CFTR	Pathogenic	121908770	RCV000056392;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171121	117171121	NM_000492.3:c.442delA	NP_000483.3:p.Ile148Leufs	NC_000007.13:g.117171121delA	CFTR2:574delA	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr)	1080	CFTR	Benign	35516286	RCV000047138; RCV000079009;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117171122	117171122	NM_000492.3:c.443T>C	NP_000483.3:p.Ile148Thr	NC_000007.13:g.117171122T>A,NC_000007.13:g.117171122T>C	Cystic Fibrosis Mutation Database:105,HGMD:CM920145	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.443T>A (p.Ile148Asn)	1080	CFTR	not provided	35516286	RCV000047137;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171122	117171122	NM_000492.3:c.443T>A	NP_000483.3:p.Ile148Asn	NC_000007.13:g.117171122T>A,NC_000007.13:g.117171122T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.444_445insCTA (p.Ile148_Gly149insLeu)	1080	CFTR	not provided	397508717	RCV000047139;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171123	117171124	NM_000492.3:c.444_445insCTA	NP_000483.3:p.Ile148_Gly149insLeu	NC_000007.13:g.117171123_117171124insCTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.445G>A (p.Gly149Arg)	1080	CFTR	not provided	397508718	RCV000047140;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171124	117171124	NM_000492.3:c.445G>A	NP_000483.3:p.Gly149Arg	NC_000007.13:g.117171124G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.446G>T (p.Gly149Val)	1080	CFTR	not provided	397508719	RCV000047141;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171125	117171125	NM_000492.3:c.446G>T	NP_000483.3:p.Gly149Val	NC_000007.13:g.117171125G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.451C>A (p.Gln151Lys)	1080	CFTR	not provided	397508720	RCV000047142;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171130	117171130	NM_000492.3:c.451C>A	NP_000483.3:p.Gln151Lys	NC_000007.13:g.117171130C>A,NC_000007.13:g.117171130C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.451C>T (p.Gln151Ter)	1080	CFTR	not provided	397508720	RCV000047143;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171130	117171130	NM_000492.3:c.451C>T	NP_000483.3:p.Gln151Ter	NC_000007.13:g.117171130C>A,NC_000007.13:g.117171130C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.454A>G (p.Met152Val)	1080	CFTR	not provided	397508721	RCV000047144;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171133	117171133	NM_000492.3:c.454A>G	NP_000483.3:p.Met152Val	NC_000007.13:g.117171133A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.455T>G (p.Met152Arg)	1080	CFTR	not provided	397508722	RCV000047145;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171134	117171134	NM_000492.3:c.455T>G	NP_000483.3:p.Met152Arg	NC_000007.13:g.117171134T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.459_476del18 (p.Ala155_Ile160del)	1080	CFTR	Pathogenic	387906371	RCV000007608;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171138	117171155	NM_000492.3:c.459_476del18	NP_000483.3:p.Ala155_Ile160del	NC_000007.13:g.117171138_117171155del18	OMIM Allelic Variant:602421.0085	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.463G>C (p.Ala155Pro)	1080	CFTR	not provided	397508723	RCV000047147;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171142	117171142	NM_000492.3:c.463G>C	NP_000483.3:p.Ala155Pro	NC_000007.13:g.117171142G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.472A>C (p.Ser158Arg)	1080	CFTR	not provided	397508724	RCV000047148;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171151	117171151	NM_000492.3:c.472A>C	NP_000483.3:p.Ser158Arg	NC_000007.13:g.117171151A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.473G>C (p.Ser158Thr)	1080	CFTR	not provided	397508725	RCV000047149;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171152	117171152	NM_000492.3:c.473G>C	NP_000483.3:p.Ser158Thr	NC_000007.13:g.117171152G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.474dupT (p.Leu159Phefs)	1080	CFTR	not provided	397508726	RCV000047150;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171153	117171153	NM_000492.3:c.474dupT	NP_000483.3:p.Leu159Phefs	NC_000007.13:g.117171153dupT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.476T>A (p.Leu159Ter)	1080	CFTR	not provided	397508727	RCV000047151;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171155	117171155	NM_000492.3:c.476T>A	NP_000483.3:p.Leu159Ter	NC_000007.13:g.117171155T>A,NC_000007.13:g.117171155T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.476T>C (p.Leu159Ser)	1080	CFTR	not provided	397508727	RCV000047152;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171155	117171155	NM_000492.3:c.476T>C	NP_000483.3:p.Leu159Ser	NC_000007.13:g.117171155T>A,NC_000007.13:g.117171155T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.480T>A (p.Ile160=)	1080	CFTR	not provided	397508728	RCV000047153;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171159	117171159	NM_000492.3:c.480T>A	NP_000483.3:p.Ile160=	NC_000007.13:g.117171159T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.481T>A (p.Tyr161Asn)	1080	CFTR	not provided	397508729	RCV000047154;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171160	117171160	NM_000492.3:c.481T>A	NP_000483.3:p.Tyr161Asn	NC_000007.13:g.117171160T>A,NC_000007.13:g.117171160T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.481T>G (p.Tyr161Asp)	1080	CFTR	not provided	397508729	RCV000047155;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171160	117171160	NM_000492.3:c.481T>G	NP_000483.3:p.Tyr161Asp	NC_000007.13:g.117171160T>A,NC_000007.13:g.117171160T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.482A>C (p.Tyr161Ser)	1080	CFTR	not provided	397508730	RCV000047156;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171161	117171161	NM_000492.3:c.482A>C	NP_000483.3:p.Tyr161Ser	NC_000007.13:g.117171161A>C,NC_000007.13:g.117171161A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.482A>G (p.Tyr161Cys)	1080	CFTR	not provided	397508730	RCV000047157;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171161	117171161	NM_000492.3:c.482A>G	NP_000483.3:p.Tyr161Cys	NC_000007.13:g.117171161A>C,NC_000007.13:g.117171161A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.484A>G (p.Lys162Glu)	1080	CFTR	not provided	397508731	RCV000047158;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171163	117171163	NM_000492.3:c.484A>G	NP_000483.3:p.Lys162Glu	NC_000007.13:g.117171163A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.489G>A (p.Lys163=)	1080	CFTR	not provided	397508733	RCV000047163;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171168	117171168	NM_000492.3:c.489G>A	NP_000483.3:p.Lys163=	NC_000007.13:g.117171168G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.489+1G>T	1080	CFTR	Pathogenic	78756941	RCV000043565;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171169	117171169	NM_000492.3:c.489+1G>T		NC_000007.13:g.117171169G>T	CFTR2:621+1G->T,Cystic Fibrosis Mutation Database:112	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.489+2T>C	1080	CFTR	not provided	397508732	RCV000047160;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171170	117171170	NM_000492.3:c.489+2T>C		NC_000007.13:g.117171170T>C,NC_000007.13:g.117171170T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.489+2T>G	1080	CFTR	not provided	397508732	RCV000047161;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171170	117171170	NM_000492.3:c.489+2T>G		NC_000007.13:g.117171170T>C,NC_000007.13:g.117171170T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.489+3A>G	1080	CFTR	not provided	377729736	RCV000047162;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117171171	117171171	NM_000492.3:c.489+3A>G		NC_000007.13:g.117171171A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.490-116A>G	1080	CFTR	not provided	138222728	RCV000047164;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174214	117174214	NM_000492.3:c.490-116A>G		NC_000007.13:g.117174214A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.490-2A>G	1080	CFTR	not provided	397508735	RCV000047166;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174328	117174328	NM_000492.3:c.490-2A>G		NC_000007.13:g.117174328A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.490-1G>A	1080	CFTR	not provided	397508734	RCV000047165;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174329	117174329	NM_000492.3:c.490-1G>A		NC_000007.13:g.117174329G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.494T>C (p.Leu165Ser)	1080	CFTR	not provided	397508736	RCV000047167;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174334	117174334	NM_000492.3:c.494T>C	NP_000483.3:p.Leu165Ser	NC_000007.13:g.117174334T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.494delT (p.Leu165Terfs)	1080	CFTR	not provided	397508737	RCV000047168;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174334	117174334	NM_000492.3:c.494delT	NP_000483.3:p.Leu165Terfs	NC_000007.13:g.117174334delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.496A>G (p.Lys166Glu)	1080	CFTR	not provided	397508738	RCV000047169;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174336	117174336	NM_000492.3:c.496A>G	NP_000483.3:p.Lys166Glu	NC_000007.13:g.117174336A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.500T>G (p.Leu167Arg)	1080	CFTR	not provided	397508741	RCV000047173;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174340	117174340	NM_000492.3:c.500T>G	NP_000483.3:p.Leu167Arg	NC_000007.13:g.117174340T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.509G>A (p.Arg170His)	1080	CFTR	Uncertain significance	1800079	RCV000047174; RCV000178781;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48	7	117174349	117174349	NM_000492.3:c.509G>A	NP_000483.3:p.Arg170His	NC_000007.13:g.117174349G>A	-	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.518_522delATAAA (p.Ile175Tyrfs)	1080	CFTR	not provided	397508743	RCV000047176;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174358	117174362	NM_000492.3:c.518_522delATAAA	NP_000483.3:p.Ile175Tyrfs	NC_000007.13:g.117174358_117174362delATAAA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.523A>G (p.Ile175Val)	1080	CFTR	not provided	397508744	RCV000047177;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174363	117174363	NM_000492.3:c.523A>G	NP_000483.3:p.Ile175Val	NC_000007.13:g.117174363A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.526delA (p.Ser176Valfs)	1080	CFTR	not provided	397508745	RCV000047178;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174366	117174366	NM_000492.3:c.526delA	NP_000483.3:p.Ser176Valfs	NC_000007.13:g.117174366delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.530T>C (p.Ile177Thr)	1080	CFTR	not provided	397508747	RCV000047181;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174370	117174370	NM_000492.3:c.530T>C	NP_000483.3:p.Ile177Thr	NC_000007.13:g.117174370T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.531delT (p.Ile177Metfs)	1080	CFTR	Pathogenic	121908771	RCV000056393;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174371	117174371	NM_000492.3:c.531delT	NP_000483.3:p.Ile177Metfs	NC_000007.13:g.117174371delT	CFTR2:663delT	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg)	1080	CFTR	Pathogenic;drug response	80282562	RCV000056394; RCV000211246;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117174372	117174372	NM_000492.3:c.532G>A	NP_000483.3:p.Gly178Arg	NC_000007.13:g.117174372G>A	CFTR2:G178R,PharmGKB Clinical Annotation:1183960805,PharmGKB:1183960805	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.533G>A (p.Gly178Glu)	1080	CFTR	not provided	397508748	RCV000047184;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174373	117174373	NM_000492.3:c.533G>A	NP_000483.3:p.Gly178Glu	NC_000007.13:g.117174373G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.535C>A (p.Gln179Lys)	1080	CFTR	not provided	367850319	RCV000047185;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174375	117174375	NM_000492.3:c.535C>A	NP_000483.3:p.Gln179Lys	NC_000007.13:g.117174375C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.543_546delTAGT (p.Leu183Phefs)	1080	CFTR	Pathogenic	397508750	RCV000047188;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174383	117174386	NM_000492.3:c.543_546delTAGT	NP_000483.3:p.Leu183Phefs	NC_000007.13:g.117174383_117174386delTAGT	CFTR2:215	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.547C>A (p.Leu183Ile)	1080	CFTR	not provided	397508751	RCV000047189;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174387	117174387	NM_000492.3:c.547C>A	NP_000483.3:p.Leu183Ile	NC_000007.13:g.117174387C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.550delC (p.Leu184Phefs)	1080	CFTR	not provided	397508752	RCV000047191;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174390	117174390	NM_000492.3:c.550delC	NP_000483.3:p.Leu184Phefs	NC_000007.13:g.117174390delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.558C>A (p.Asn186Lys)	1080	CFTR	not provided	397508753	RCV000047192;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174398	117174398	NM_000492.3:c.558C>A	NP_000483.3:p.Asn186Lys	NC_000007.13:g.117174398C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.561C>A (p.Asn187Lys)	1080	CFTR	not provided	397508754	RCV000047193;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174401	117174401	NM_000492.3:c.561C>A	NP_000483.3:p.Asn187Lys	NC_000007.13:g.117174401C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.567C>A (p.Asn189Lys)	1080	CFTR	not provided	397508755	RCV000047194;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174407	117174407	NM_000492.3:c.567C>A	NP_000483.3:p.Asn189Lys	NC_000007.13:g.117174407C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.574G>A (p.Asp192Asn)	1080	CFTR	not provided	397508756	RCV000047195;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174414	117174414	NM_000492.3:c.574G>A	NP_000483.3:p.Asp192Asn	NC_000007.13:g.117174414G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.574_576delGAT (p.Asp192del)	1080	CFTR	not provided	397508757	RCV000047196;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174414	117174416	NM_000492.3:c.574_576delGAT	NP_000483.3:p.Asp192del	NC_000007.13:g.117174414_117174416delGAT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.575A>G (p.Asp192Gly)	1080	CFTR	not provided	397508758	RCV000047197;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174415	117174415	NM_000492.3:c.575A>G	NP_000483.3:p.Asp192Gly	NC_000007.13:g.117174415A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.577G>A (p.Glu193Lys)	1080	CFTR	not provided	397508759	RCV000047198;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174417	117174417	NM_000492.3:c.577G>A	NP_000483.3:p.Glu193Lys	NC_000007.13:g.117174417G>A,NC_000007.13:g.117174417G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter)	1080	CFTR	Pathogenic	397508759	RCV000047199; RCV000079010;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117174417	117174417	NM_000492.3:c.577G>T	NP_000483.3:p.Glu193Ter	NC_000007.13:g.117174417G>A,NC_000007.13:g.117174417G>T	CFTR2:231,HGMD:CM941970	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.578_579+5delAAGTATG	1080	CFTR	not provided	397508760	RCV000047200;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174418	117174424	NM_000492.3:c.578_579+5delAAGTATG		NC_000007.13:g.117174418_117174424delAAGTATG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.579+1G>T	1080	CFTR	Pathogenic	77188391	RCV000043566;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174420	117174420	NM_000492.3:c.579+1G>T		NC_000007.13:g.117174420G>T	CFTR2:711+1G->T,Cystic Fibrosis Mutation Database:130	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.579+3A>C	1080	CFTR	not provided	397508761	RCV000047202;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174422	117174422	NM_000492.3:c.579+3A>C		NC_000007.13:g.117174422A>C,NC_000007.13:g.117174422A>G,NC_000007.13:g.117174422	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.579+3A>G	1080	CFTR	Pathogenic	397508761	RCV000056396;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174422	117174422	NM_000492.3:c.579+3A>G		NC_000007.13:g.117174422A>C,NC_000007.13:g.117174422A>G,NC_000007.13:g.117174422	CFTR2:711+3A->G	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.579+3A>T	1080	CFTR	not provided	397508761	RCV000047204;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174422	117174422	NM_000492.3:c.579+3A>T		NC_000007.13:g.117174422A>C,NC_000007.13:g.117174422A>G,NC_000007.13:g.117174422	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.579+5G>A	1080	CFTR	Pathogenic	78440224	RCV000056397;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117174424	117174424	NM_000492.3:c.579+5G>A		NC_000007.13:g.117174424G>A	CFTR2:711+5G->A	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.580-92T>A	1080	CFTR	not provided	117548166	RCV000047208;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175210	117175210	NM_000492.3:c.580-92T>A		NC_000007.13:g.117175210T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.580-1G>T	1080	CFTR	Pathogenic	121908793	RCV000056398;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175301	117175301	NM_000492.3:c.580-1G>T		NC_000007.13:g.117175301G>T	CFTR2:712-1G->T	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.581G>T (p.Gly194Val)	1080	CFTR	not provided	397508763	RCV000047209;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175303	117175303	NM_000492.3:c.581G>T	NP_000483.3:p.Gly194Val	NC_000007.13:g.117175303G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr)	1080	CFTR	Likely pathogenic	193922529	RCV000029542;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175314	117175314	NM_000492.3:c.592G>A	NP_000483.3:p.Ala198Thr	NC_000007.13:g.117175314G>A,NC_000007.13:g.117175314G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.592G>C (p.Ala198Pro)	1080	CFTR	not provided	193922529	RCV000047210;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175314	117175314	NM_000492.3:c.592G>C	NP_000483.3:p.Ala198Pro	NC_000007.13:g.117175314G>A,NC_000007.13:g.117175314G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.595C>T (p.His199Tyr)	1080	CFTR	Pathogenic	121908802	RCV000056399;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175317	117175317	NM_000492.3:c.595C>T	NP_000483.3:p.His199Tyr	NC_000007.13:g.117175317C>T	CFTR2:H199Y	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.596A>G (p.His199Arg)	1080	CFTR	not provided	397508764	RCV000047212;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175318	117175318	NM_000492.3:c.596A>G	NP_000483.3:p.His199Arg	NC_000007.13:g.117175318A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.597T>G (p.His199Gln)	1080	CFTR	not provided	397508765	RCV000047213;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175319	117175319	NM_000492.3:c.597T>G	NP_000483.3:p.His199Gln	NC_000007.13:g.117175319T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.598T>A (p.Phe200Ile)	1080	CFTR	not provided	397508766	RCV000047214;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175320	117175320	NM_000492.3:c.598T>A	NP_000483.3:p.Phe200Ile	NC_000007.13:g.117175320T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.601G>A (p.Val201Met)	1080	CFTR	not provided	138338446	RCV000047215;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175323	117175323	NM_000492.3:c.601G>A	NP_000483.3:p.Val201Met	NC_000007.13:g.117175323G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.601delG (p.Val201Cysfs)	1080	CFTR	not provided	397508767	RCV000047216;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175323	117175323	NM_000492.3:c.601delG	NP_000483.3:p.Val201Cysfs	NC_000007.13:g.117175323delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.606G>A (p.Trp202Ter)	1080	CFTR	not provided	397508768	RCV000047217;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175328	117175328	NM_000492.3:c.606G>A	NP_000483.3:p.Trp202Ter	NC_000007.13:g.117175328G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.609C>G (p.Ile203Met)	1080	CFTR	not provided	1800081	RCV000047218;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175331	117175331	NM_000492.3:c.609C>G	NP_000483.3:p.Ile203Met	NC_000007.13:g.117175331C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.613C>T (p.Pro205Ser)	1080	CFTR	Pathogenic	121908803	RCV000056400;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175335	117175335	NM_000492.3:c.613C>T	NP_000483.3:p.Pro205Ser	NC_000007.13:g.117175335C>T	CFTR2:P205S	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.614C>G (p.Pro205Arg)	1080	CFTR	not provided	397508769	RCV000047220;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175336	117175336	NM_000492.3:c.614C>G	NP_000483.3:p.Pro205Arg	NC_000007.13:g.117175336C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp)	1080	CFTR	Pathogenic	121908752	RCV000007611; RCV000079011;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117175339	117175339	NM_000492.3:c.617T>G	NP_000483.3:p.Leu206Trp	NC_000007.13:g.117175339T>G	CFTR2:L206W,HGMD:CM930102,OMIM Allelic Variant:602421.0084	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.618G>T (p.Leu206Phe)	1080	CFTR	not provided	397508770	RCV000047222;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175340	117175340	NM_000492.3:c.618G>T	NP_000483.3:p.Leu206Phe	NC_000007.13:g.117175340G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.619C>T (p.Gln207Ter)	1080	CFTR	not provided	397508771	RCV000047223;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175341	117175341	NM_000492.3:c.619C>T	NP_000483.3:p.Gln207Ter	NC_000007.13:g.117175341C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.625G>T (p.Ala209Ser)	1080	CFTR	not provided	397508772	RCV000047224;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175347	117175347	NM_000492.3:c.625G>T	NP_000483.3:p.Ala209Ser	NC_000007.13:g.117175347G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.627A>G (p.Ala209=)	1080	CFTR	not provided	397508773	RCV000047225;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175349	117175349	NM_000492.3:c.627A>G	NP_000483.3:p.Ala209=	NC_000007.13:g.117175349A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.642_643insT (p.Ile215Tyrfs)	1080	CFTR	not provided	397508774	RCV000047226;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175364	117175365	NM_000492.3:c.642_643insT	NP_000483.3:p.Ile215Tyrfs	NC_000007.13:g.117175364_117175365insT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.647G>A (p.Trp216Ter)	1080	CFTR	not provided	397508775	RCV000047227;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175369	117175369	NM_000492.3:c.647G>A	NP_000483.3:p.Trp216Ter	NC_000007.13:g.117175369G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.648G>T (p.Trp216Cys)	1080	CFTR	not provided	397508776	RCV000047228;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175370	117175370	NM_000492.3:c.648G>T	NP_000483.3:p.Trp216Cys	NC_000007.13:g.117175370G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly)	1080	CFTR	Pathogenic	121909046	RCV000007660;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175372	117175372	NM_000492.3:c.650A>G	NP_000483.3:p.Glu217Gly	NC_000007.13:g.117175372A>G	OMIM Allelic Variant:602421.0134	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.653T>A (p.Leu218Ter)	1080	CFTR	not provided	397508777	RCV000047229;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175375	117175375	NM_000492.3:c.653T>A	NP_000483.3:p.Leu218Ter	NC_000007.13:g.117175375T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.658C>T (p.Gln220Ter)	1080	CFTR	Pathogenic	397508778	RCV000056401;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175380	117175380	NM_000492.3:c.658C>T	NP_000483.3:p.Gln220Ter	NC_000007.13:g.117175380C>T	CFTR2:Q220X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.659A>G (p.Gln220Arg)	1080	CFTR	not provided	397508779	RCV000047231;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175381	117175381	NM_000492.3:c.659A>G	NP_000483.3:p.Gln220Arg	NC_000007.13:g.117175381A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.673T>C (p.Cys225Arg)	1080	CFTR	not provided	397508780	RCV000047232;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175395	117175395	NM_000492.3:c.673T>C	NP_000483.3:p.Cys225Arg	NC_000007.13:g.117175395T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.675T>A (p.Cys225Ter)	1080	CFTR	not provided	397508781	RCV000047233;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175397	117175397	NM_000492.3:c.675T>A	NP_000483.3:p.Cys225Ter	NC_000007.13:g.117175397T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.680T>G (p.Leu227Arg)	1080	CFTR	Pathogenic	397508782	RCV000047234;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175402	117175402	NM_000492.3:c.680T>G	NP_000483.3:p.Leu227Arg	NC_000007.13:g.117175402T>G	CFTR2:143	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.695T>A (p.Val232Asp)	1080	CFTR	not provided	397508783	RCV000047235;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175417	117175417	NM_000492.3:c.695T>A	NP_000483.3:p.Val232Asp	NC_000007.13:g.117175417T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.709C>G (p.Gln237Glu)	1080	CFTR	not provided	397508784	RCV000047236;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175431	117175431	NM_000492.3:c.709C>G	NP_000483.3:p.Gln237Glu	NC_000007.13:g.117175431C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.711G>C (p.Gln237His)	1080	CFTR	not provided	397508785	RCV000047237;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175433	117175433	NM_000492.3:c.711G>C	NP_000483.3:p.Gln237His	NC_000007.13:g.117175433G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.713C>T (p.Ala238Val)	1080	CFTR	not provided	397508786	RCV000047238;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175435	117175435	NM_000492.3:c.713C>T	NP_000483.3:p.Ala238Val	NC_000007.13:g.117175435C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.714delT (p.Leu240Terfs)	1080	CFTR	not provided	397508787	RCV000047239;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175436	117175436	NM_000492.3:c.714delT	NP_000483.3:p.Leu240Terfs	NC_000007.13:g.117175436delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.715G>A (p.Gly239Arg)	1080	CFTR	not provided	397508788	RCV000047240;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175437	117175437	NM_000492.3:c.715G>A	NP_000483.3:p.Gly239Arg	NC_000007.13:g.117175437G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.720_741del22 (p.Gly241Glufs)	1080	CFTR	Pathogenic	121908804	RCV000007565;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175442	117175463	NM_000492.3:c.720_741del22	NP_000483.3:p.Gly241Glufs	NC_000007.13:g.117175442_117175463del22	CFTR2:852del22,OMIM Allelic Variant:602421.0041	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.721G>A (p.Gly241Arg)	1080	CFTR	not provided	397508789	RCV000047242;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175443	117175443	NM_000492.3:c.721G>A	NP_000483.3:p.Gly241Arg	NC_000007.13:g.117175443G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.731T>A (p.Met244Lys)	1080	CFTR	not provided	397508790	RCV000047244;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175453	117175453	NM_000492.3:c.731T>A	NP_000483.3:p.Met244Lys	NC_000007.13:g.117175453T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.741C>G (p.Tyr247Ter)	1080	CFTR	not provided	1800082	RCV000047245;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175463	117175463	NM_000492.3:c.741C>G	NP_000483.3:p.Tyr247Ter	NC_000007.13:g.117175463C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.743G>C (p.Arg248Thr)	1080	CFTR	not provided	397508792	RCV000047248;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175465	117175465	NM_000492.3:c.743G>C	NP_000483.3:p.Arg248Thr	NC_000007.13:g.117175465G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.743+1G>A	1080	CFTR	not provided	397508791	RCV000047246;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175466	117175466	NM_000492.3:c.743+1G>A		NC_000007.13:g.117175466G>A,NC_000007.13:g.117175466G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.743+1G>C	1080	CFTR	Likely pathogenic	397508791	RCV000047247;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175466	117175466	NM_000492.3:c.743+1G>C		NC_000007.13:g.117175466G>A,NC_000007.13:g.117175466G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.743+4G>T	1080	CFTR	Uncertain significance	193922530	RCV000029543;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117175469	117175469	NM_000492.3:c.743+4G>T		NC_000007.13:g.117175469G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.744-14_744-3delTGATTGATTTAC	1080	CFTR	Pathogenic	387906367	RCV000007590;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176588	117176599	NM_000492.3:c.744-14_744-3delTGATTGATTTAC		NC_000007.13:g.117176588_117176599delTGATTGATTTAC	OMIM Allelic Variant:602421.0066	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.744-10_744-3del	1080	CFTR	not provided	397508793	RCV000047249;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176592	117176599	NM_000492.3:c.744-10_744-3del		NC_000007.13:g.117176592_117176599delTGATTTAC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.744-9_744-6dupGATT	1080	CFTR	Likely benign	386134231	RCV000029544;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176593	117176596	NM_000492.3:c.744-9_744-6dupGATT		NC_000007.13:g.117176593_117176596dupGATT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly)	1080	CFTR	not provided	191456345	RCV000047251;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176630	117176630	NM_000492.3:c.772A>G	NP_000483.3:p.Arg258Gly	NC_000007.13:g.117176630A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.773delG (p.Arg258Asnfs)	1080	CFTR	not provided	397508794	RCV000047252;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176631	117176631	NM_000492.3:c.773delG	NP_000483.3:p.Arg258Asnfs	NC_000007.13:g.117176631delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.775delCinsTCTTCCTCAGATTCATTGTGATTACCTCA (p.Leu259Serfs)	1080	CFTR	not provided	397508795	RCV000047253;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176633	117176633	NM_000492.3:c.775delCinsTCTTCCTCAGATTCATTGTGATTACCTCA	NP_000483.3:p.Leu259Serfs	NC_000007.13:g.117176633delCinsTCTTCCTCAGATTCATTGTGATTACCTCA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.794T>G (p.Met265Arg)	1080	CFTR	not provided	148519623	RCV000047254;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176652	117176652	NM_000492.3:c.794T>G	NP_000483.3:p.Met265Arg	NC_000007.13:g.117176652T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.803delA (p.Asn268Ilefs)	1080	CFTR	Pathogenic	121908772	RCV000047258; RCV000079013;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117176661	117176661	NM_000492.3:c.803delA	NP_000483.3:p.Asn268Ilefs	NC_000007.13:g.117176661delA	CFTR2:226,Cystic Fibrosis Mutation Database:968,HGMD:CD000926	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.805_806delAT (p.Ile269Profs)	1080	CFTR	Pathogenic	121908773	RCV000007627;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176663	117176664	NM_000492.3:c.805_806delAT	NP_000483.3:p.Ile269Profs	NC_000007.13:g.117176663_117176664delAT	OMIM Allelic Variant:602421.0101	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.825C>G (p.Tyr275Ter)	1080	CFTR	Pathogenic	193922532	RCV000029545;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176683	117176683	NM_000492.3:c.825C>G	NP_000483.3:p.Tyr275Ter	NC_000007.13:g.117176683C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.828C>A (p.Cys276Ter)	1080	CFTR	Pathogenic	397508799	RCV000047263;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176686	117176686	NM_000492.3:c.828C>A	NP_000483.3:p.Cys276Ter	NC_000007.13:g.117176686C>A	CFTR2:188	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.829T>A (p.Trp277Arg)	1080	CFTR	not provided	397508800	RCV000047264;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176687	117176687	NM_000492.3:c.829T>A	NP_000483.3:p.Trp277Arg	NC_000007.13:g.117176687T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.830G>A (p.Trp277Ter)	1080	CFTR	Pathogenic	672601317	RCV000149425;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176688	117176688	NM_000492.3:c.830G>A	NP_000483.3:p.Trp277Ter	NC_000007.13:g.117176688G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.836_838delAAG (p.Glu279del)	1080	CFTR	not provided	397508801	RCV000047265;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176694	117176696	NM_000492.3:c.836_838delAAG	NP_000483.3:p.Glu279del	NC_000007.13:g.117176694_117176696delAAG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.842T>C (p.Met281Thr)	1080	CFTR	not provided	397508802	RCV000047266;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176700	117176700	NM_000492.3:c.842T>C	NP_000483.3:p.Met281Thr	NC_000007.13:g.117176700T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.846A>T (p.Glu282Asp)	1080	CFTR	Likely pathogenic	142864834	RCV000029546;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176704	117176704	NM_000492.3:c.846A>T	NP_000483.3:p.Glu282Asp	NC_000007.13:g.117176704A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.848_860delAAATGATTGAAAAinsTG (p.Lys283Metfs)	1080	CFTR	Pathogenic	796065332	RCV000179761;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176706	117176718	NM_000492.3:c.848_860delAAATGATTGAAAAinsTG	NP_000483.3:p.Lys283Metfs	NC_000007.13:g.117176706_117176718delAAATGATTGAAAAinsTG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.850dupA (p.Met284Asnfs)	1080	CFTR	Likely pathogenic	786204693	RCV000169503;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176708	117176708	NM_000492.3:c.850dupA	NP_000483.3:p.Met284Asnfs	NC_000007.13:g.117176708dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe)	1080	CFTR	Likely benign	151073129	RCV000029547;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176711	117176711	NM_000492.3:c.853A>T	NP_000483.3:p.Ile285Phe	NC_000007.13:g.117176711A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.859A>T (p.Asn287Tyr)	1080	CFTR	not provided	397508804	RCV000047269;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176717	117176717	NM_000492.3:c.859A>T	NP_000483.3:p.Asn287Tyr	NC_000007.13:g.117176717A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.860dupA (p.Asn287Lysfs)	1080	CFTR	Pathogenic	387906380	RCV000007658;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176718	117176718	NM_000492.3:c.860dupA	NP_000483.3:p.Asn287Lysfs	NC_000007.13:g.117176718dupA	OMIM Allelic Variant:602421.0132	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.861C>G (p.Asn287Lys)	1080	CFTR	not provided	112162204	RCV000047271;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176719	117176719	NM_000492.3:c.861C>G	NP_000483.3:p.Asn287Lys	NC_000007.13:g.117176719C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.861_865delCTTAA (p.Asn287Lysfs)	1080	CFTR	Pathogenic	397508805	RCV000047272;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176719	117176723	NM_000492.3:c.861_865delCTTAA	NP_000483.3:p.Asn287Lysfs	NC_000007.13:g.117176719_117176723delCTTAA	CFTR2:237	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.862_869+1delTTAAGACAG	1080	CFTR	not provided	397508807	RCV000047273;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176720	117176728	NM_000492.3:c.862_869+1delTTAAGACAG		NC_000007.13:g.117176720_117176728delTTAAGACAG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.868C>T (p.Gln290Ter)	1080	CFTR	not provided	397508808	RCV000047274;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117176726	117176726	NM_000492.3:c.868C>T	NP_000483.3:p.Gln290Ter	NC_000007.13:g.117176726C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.870-1113_870-1110delGAAT	1080	CFTR	not provided	397508809	RCV000047275;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117179041	117179044	NM_000492.3:c.870-1113_870-1110delGAAT		NC_000007.13:g.117179041_117179044delGAAT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.870-3T>G	1080	CFTR	not provided	397508810	RCV000047276;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180151	117180151	NM_000492.3:c.870-3T>G		NC_000007.13:g.117180151T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.874G>A (p.Glu292Lys)	1080	CFTR	not provided	397508811	RCV000047277;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180158	117180158	NM_000492.3:c.874G>A	NP_000483.3:p.Glu292Lys	NC_000007.13:g.117180158G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.877C>A (p.Leu293Met)	1080	CFTR	not provided	397508812	RCV000047278;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180161	117180161	NM_000492.3:c.877C>A	NP_000483.3:p.Leu293Met	NC_000007.13:g.117180161C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.881_882delAA (p.Lys294Thrfs)	1080	CFTR	not provided	397508813	RCV000047279;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180165	117180166	NM_000492.3:c.881_882delAA	NP_000483.3:p.Lys294Thrfs	NC_000007.13:g.117180165_117180166delAA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.889C>T (p.Arg297Trp)	1080	CFTR	not provided	397508814	RCV000047280;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180173	117180173	NM_000492.3:c.889C>T	NP_000483.3:p.Arg297Trp	NC_000007.13:g.117180173C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln)	1080	CFTR	Benign;Likely benign	143486492	RCV000047282; RCV000180169;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117180174	117180174	NM_000492.3:c.890G>A	NP_000483.3:p.Arg297Gln	NC_000007.13:g.117180174G>A	-	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.912C>G (p.Tyr304Ter)	1080	CFTR	not provided	397508816	RCV000047283;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180196	117180196	NM_000492.3:c.912C>G	NP_000483.3:p.Tyr304Ter	NC_000007.13:g.117180196C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.913T>G (p.Phe305Val)	1080	CFTR	not provided	201885470	RCV000047284;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180197	117180197	NM_000492.3:c.913T>G	NP_000483.3:p.Phe305Val	NC_000007.13:g.117180197T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.920G>A (p.Ser307Asn)	1080	CFTR	not provided	397508817	RCV000047286;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180204	117180204	NM_000492.3:c.920G>A	NP_000483.3:p.Ser307Asn	NC_000007.13:g.117180204G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.926C>G (p.Ala309Gly)	1080	CFTR	not provided	397508818	RCV000047287;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180210	117180210	NM_000492.3:c.926C>G	NP_000483.3:p.Ala309Gly	NC_000007.13:g.117180210C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.933C>G (p.Phe311Leu)	1080	CFTR	Pathogenic	121909016	RCV000007573;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180217	117180217	NM_000492.3:c.933C>G	NP_000483.3:p.Phe311Leu	NC_000007.13:g.117180217C>G	OMIM Allelic Variant:602421.0049	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.935_937delTCT (p.Phe312del)	1080	CFTR	Pathogenic	121908768	RCV000047290; RCV000079015;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117180219	117180221	NM_000492.3:c.935_937delTCT	NP_000483.3:p.Phe312del	NC_000007.13:g.117180219_117180221delTCT	Cystic Fibrosis Mutation Database:168,HGMD:CD930921	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.940G>C (p.Gly314Arg)	1080	CFTR	not provided	397508819	RCV000047291;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180224	117180224	NM_000492.3:c.940G>C	NP_000483.3:p.Gly314Arg	NC_000007.13:g.117180224G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.941G>A (p.Gly314Glu)	1080	CFTR	not provided	75763344	RCV000047292;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180225	117180225	NM_000492.3:c.941G>A	NP_000483.3:p.Gly314Glu	NC_000007.13:g.117180225G>A,NC_000007.13:g.117180225G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.941G>T (p.Gly314Val)	1080	CFTR	not provided	75763344	RCV000047293;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180225	117180225	NM_000492.3:c.941G>T	NP_000483.3:p.Gly314Val	NC_000007.13:g.117180225G>A,NC_000007.13:g.117180225G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.948delT (p.Phe316Leufs)	1080	CFTR	Pathogenic	121908744	RCV000007583; RCV000079016;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117180232	117180232	NM_000492.3:c.948delT	NP_000483.3:p.Phe316Leufs	NC_000007.13:g.117180232delT	CFTR2:1078delT,Cystic Fibrosis Mutation Database:172,HGMD:CD920843,OMIM Allelic Variant:602421.0059	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.958T>G (p.Leu320Val)	1080	CFTR	Uncertain significance	144476686	RCV000029549;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180242	117180242	NM_000492.3:c.958T>G	NP_000483.3:p.Leu320Val	NC_000007.13:g.117180242T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.959T>A (p.Leu320Ter)	1080	CFTR	not provided	397508820	RCV000047297;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180243	117180243	NM_000492.3:c.959T>A	NP_000483.3:p.Leu320Ter	NC_000007.13:g.117180243T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.960A>T (p.Leu320Phe)	1080	CFTR	not provided	56093012	RCV000047299;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180244	117180244	NM_000492.3:c.960A>T	NP_000483.3:p.Leu320Phe	NC_000007.13:g.117180244A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.964G>A (p.Val322Met)	1080	CFTR	Uncertain significance	1800085	RCV000047300; RCV000036522;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117180248	117180248	NM_000492.3:c.964G>A	NP_000483.3:p.Val322Met	NC_000007.13:g.117180248G>A	-	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.971C>T (p.Pro324Leu)	1080	CFTR	not provided	397508822	RCV000047301;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180255	117180255	NM_000492.3:c.971C>T	NP_000483.3:p.Pro324Leu	NC_000007.13:g.117180255C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.980delT (p.Leu327Glnfs)	1080	CFTR	not provided	397508823	RCV000047302;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180264	117180264	NM_000492.3:c.980delT	NP_000483.3:p.Leu327Glnfs	NC_000007.13:g.117180264delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.987delA (p.Gly330Glufs)	1080	CFTR	Pathogenic	397508824	RCV000047303;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180271	117180271	NM_000492.3:c.987delA	NP_000483.3:p.Gly330Glufs	NC_000007.13:g.117180271delA	CFTR2:280	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.988G>T (p.Gly330Ter)	1080	CFTR	Pathogenic	79031340	RCV000056402;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180272	117180272	NM_000492.3:c.988G>T	NP_000483.3:p.Gly330Ter	NC_000007.13:g.117180272G>T	CFTR2:G330X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.992T>A (p.Ile331Asn)	1080	CFTR	not provided	397508825	RCV000047305;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180276	117180276	NM_000492.3:c.992T>A	NP_000483.3:p.Ile331Asn	NC_000007.13:g.117180276T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.997C>T (p.Leu333Phe)	1080	CFTR	Likely pathogenic	193922533	RCV000029550;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180281	117180281	NM_000492.3:c.997C>T	NP_000483.3:p.Leu333Phe	NC_000007.13:g.117180281C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp)	1080	CFTR	Pathogenic	121909011	RCV000007559;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180284	117180284	NM_000492.3:c.1000C>T	NP_000483.3:p.Arg334Trp	NC_000007.13:g.117180284C>T	CFTR2:R334W,OMIM Allelic Variant:602421.0034	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln)	1080	CFTR	not provided	397508137	RCV000046192;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180285	117180285	NM_000492.3:c.1001G>A	NP_000483.3:p.Arg334Gln	NC_000007.13:g.117180285G>A,NC_000007.13:g.117180285G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1001G>T (p.Arg334Leu)	1080	CFTR	not provided	397508137	RCV000046193;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180285	117180285	NM_000492.3:c.1001G>T	NP_000483.3:p.Arg334Leu	NC_000007.13:g.117180285G>A,NC_000007.13:g.117180285G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1006_1007insG (p.Ile336Serfs)	1080	CFTR	Pathogenic	397508138	RCV000046194;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180290	117180291	NM_000492.3:c.1006_1007insG	NP_000483.3:p.Ile336Serfs	NC_000007.13:g.117180290_117180291insG	CFTR2:225	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1007T>A (p.Ile336Lys)	1080	CFTR	Pathogenic	397508139	RCV000056337;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180291	117180291	NM_000492.3:c.1007T>A	NP_000483.3:p.Ile336Lys	NC_000007.13:g.117180291T>A	CFTR2:I336K	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1008_1019dupATTCACCACCAT (p.Ile340_Ser341insPheThrThrIle)	1080	CFTR	not provided	397508140	RCV000046196;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180292	117180303	NM_000492.3:c.1008_1019dupATTCACCACCAT	NP_000483.3:p.Ile340_Ser341insPheThrThrIle	NC_000007.13:g.117180292_117180303dupATTCACCACCAT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1012A>G (p.Thr338Ala)	1080	CFTR	not provided	397508142	RCV000046198;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180296	117180296	NM_000492.3:c.1012A>G	NP_000483.3:p.Thr338Ala	NC_000007.13:g.117180296A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile)	1080	CFTR	Pathogenic	77409459	RCV000007614;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180297	117180297	NM_000492.3:c.1013C>T	NP_000483.3:p.Thr338Ile	NC_000007.13:g.117180297C>T	CFTR2:T338I,OMIM Allelic Variant:602421.0087	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1018delA (p.Ile340Serfs)	1080	CFTR	not provided	397508143	RCV000046200;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180302	117180302	NM_000492.3:c.1018delA	NP_000483.3:p.Ile340Serfs	NC_000007.13:g.117180302delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1021_1022dupTC (p.Phe342Hisfs)	1080	CFTR	Pathogenic	387906360	RCV000007554;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180305	117180306	NM_000492.3:c.1021_1022dupTC	NP_000483.3:p.Phe342Hisfs	NC_000007.13:g.117180305_117180306dupTC	CFTR2:1154insTC,OMIM Allelic Variant:602421.0030	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1021T>C (p.Ser341Pro)	1080	CFTR	Pathogenic	397508144	RCV000056338;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180305	117180305	NM_000492.3:c.1021T>C	NP_000483.3:p.Ser341Pro	NC_000007.13:g.117180305T>C	CFTR2:S341P	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1029_1030insG (p.Ile344Aspfs)	1080	CFTR	not provided	397508145	RCV000046203;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180313	117180314	NM_000492.3:c.1029_1030insG	NP_000483.3:p.Ile344Aspfs	NC_000007.13:g.117180313_117180314insG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1029delC (p.Cys343Terfs)	1080	CFTR	Pathogenic	121908774	RCV000046204;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180313	117180313	NM_000492.3:c.1029delC	NP_000483.3:p.Cys343Terfs	NC_000007.13:g.117180313delC	CFTR2:227	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1037T>C (p.Leu346Pro)	1080	CFTR	not provided	397508146	RCV000046205;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180321	117180321	NM_000492.3:c.1037T>C	NP_000483.3:p.Leu346Pro	NC_000007.13:g.117180321T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys)	1080	CFTR	not provided	397508147	RCV000046206;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180323	117180323	NM_000492.3:c.1039C>T	NP_000483.3:p.Arg347Cys	NC_000007.13:g.117180323C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro)	1080	CFTR	Pathogenic	77932196	RCV000007530;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180324	117180324	NM_000492.3:c.1040G>C	NP_000483.3:p.Arg347Pro	NC_000007.13:g.117180324G>A,NC_000007.13:g.117180324G>C,NC_000007.13:g.117180324	CFTR2:R347P,OMIM Allelic Variant:602421.0006	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1040G>T (p.Arg347Leu)	1080	CFTR	Pathogenic	77932196	RCV000007591;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180324	117180324	NM_000492.3:c.1040G>T	NP_000483.3:p.Arg347Leu	NC_000007.13:g.117180324G>A,NC_000007.13:g.117180324G>C,NC_000007.13:g.117180324	OMIM Allelic Variant:602421.0067	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1040G>A (p.Arg347His)	1080	CFTR	Pathogenic	77932196	RCV000007602;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180324	117180324	NM_000492.3:c.1040G>A	NP_000483.3:p.Arg347His	NC_000007.13:g.117180324G>A,NC_000007.13:g.117180324G>C,NC_000007.13:g.117180324	CFTR2:R347H,OMIM Allelic Variant:602421.0078	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys)	1080	CFTR	not provided	142920240	RCV000046210;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180327	117180327	NM_000492.3:c.1043T>A	NP_000483.3:p.Met348Lys	NC_000007.13:g.117180327T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val)	1080	CFTR	Pathogenic	121909021	RCV000007592;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180330	117180330	NM_000492.3:c.1046C>T	NP_000483.3:p.Ala349Val	NC_000007.13:g.117180330C>T	OMIM Allelic Variant:602421.0068	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser)	1080	CFTR	not provided	1800086	RCV000046212;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180336	117180336	NM_000492.3:c.1052C>G	NP_000483.3:p.Thr351Ser	NC_000007.13:g.117180336C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp)	1080	CFTR	Uncertain significance	193922497	RCV000029469;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180338	117180338	NM_000492.3:c.1054C>T	NP_000483.3:p.Arg352Trp	NC_000007.13:g.117180338C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln)	1080	CFTR	Pathogenic	121908753	RCV000007619;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180339	117180339	NM_000492.3:c.1055G>A	NP_000483.3:p.Arg352Gln	NC_000007.13:g.117180339G>A	CFTR2:R352Q,OMIM Allelic Variant:602421.0092	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1057C>T (p.Gln353Ter)	1080	CFTR	not provided	397508148	RCV000046215;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180341	117180341	NM_000492.3:c.1057C>T	NP_000483.3:p.Gln353Ter	NC_000007.13:g.117180341C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1059A>C (p.Gln353His)	1080	CFTR	not provided	1800087	RCV000046216;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180343	117180343	NM_000492.3:c.1059A>C	NP_000483.3:p.Gln353His	NC_000007.13:g.117180343A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1068G>A (p.Trp356Ter)	1080	CFTR	not provided	397508150	RCV000046218;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180352	117180352	NM_000492.3:c.1068G>A	NP_000483.3:p.Trp356Ter	NC_000007.13:g.117180352G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1069delG (p.Ala357Leufs)	1080	CFTR	not provided	397508151	RCV000046219;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180353	117180353	NM_000492.3:c.1069delG	NP_000483.3:p.Ala357Leufs	NC_000007.13:g.117180353delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1075C>A (p.Gln359Lys)	1080	CFTR	Pathogenic	76879328	RCV000007589;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180359	117180359	NM_000492.3:c.1075C>A	NP_000483.3:p.Gln359Lys	NC_000007.13:g.117180359C>A	OMIM Allelic Variant:602421.0065	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1075_1079delCAAACinsAAAAA (p.Gln359_Thr360delinsLysLys)	1080	CFTR	not provided	397508152	RCV000046220;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180359	117180363	NM_000492.3:c.1075_1079delCAAACinsAAAAA	NP_000483.3:p.Gln359_Thr360delinsLysLys	NC_000007.13:g.117180359_117180363delCAAACinsAAAAA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1076A>G (p.Gln359Arg)	1080	CFTR	not provided	397508153	RCV000046221;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180360	117180360	NM_000492.3:c.1076A>G	NP_000483.3:p.Gln359Arg	NC_000007.13:g.117180360A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1079C>A (p.Thr360Lys)	1080	CFTR	Pathogenic	75053309	RCV000007589;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180363	117180363	NM_000492.3:c.1079C>A	NP_000483.3:p.Thr360Lys	NC_000007.13:g.117180359C>A	OMIM Allelic Variant:602421.0065	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1079C>G (p.Thr360Arg)	1080	CFTR	not provided	75053309	RCV000046222;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180363	117180363	NM_000492.3:c.1079C>G	NP_000483.3:p.Thr360Arg	NC_000007.13:g.117180363C>A,NC_000007.13:g.117180363C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1081delT (p.Trp361Glyfs)	1080	CFTR	Pathogenic	387906361	RCV000007555;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180365	117180365	NM_000492.3:c.1081delT	NP_000483.3:p.Trp361Glyfs	NC_000007.13:g.117180365delT	CFTR2:1213delT,OMIM Allelic Variant:602421.0031	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1081T>A (p.Trp361Arg)	1080	CFTR	not provided	397508154	RCV000046223;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180365	117180365	NM_000492.3:c.1081T>A	NP_000483.3:p.Trp361Arg	NC_000007.13:g.117180365T>A,NC_000007.13:g.117180365T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1081T>C (p.Trp361Arg)	1080	CFTR	not provided	397508154	RCV000046224;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180365	117180365	NM_000492.3:c.1081T>C	NP_000483.3:p.Trp361Arg	NC_000007.13:g.117180365T>A,NC_000007.13:g.117180365T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1083delG (p.Trp361Cysfs)	1080	CFTR	Pathogenic	387906375	RCV000007634;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180367	117180367	NM_000492.3:c.1083delG	NP_000483.3:p.Trp361Cysfs	NC_000007.13:g.117180367delG	OMIM Allelic Variant:602421.0108	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1086T>A (p.Tyr362Ter)	1080	CFTR	not provided	397508155	RCV000046227;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180370	117180370	NM_000492.3:c.1086T>A	NP_000483.3:p.Tyr362Ter	NC_000007.13:g.117180370T>A,NC_000007.13:g.117180370T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1086T>G (p.Tyr362Ter)	1080	CFTR	not provided	397508155	RCV000046228;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180370	117180370	NM_000492.3:c.1086T>G	NP_000483.3:p.Tyr362Ter	NC_000007.13:g.117180370T>A,NC_000007.13:g.117180370T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1090T>C (p.Ser364Pro)	1080	CFTR	not provided	78909279	RCV000046229;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180374	117180374	NM_000492.3:c.1090T>C	NP_000483.3:p.Ser364Pro	NC_000007.13:g.117180374T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1093_1094delCT (p.Leu365Trpfs)	1080	CFTR	Pathogenic	387906365	RCV000007574;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180377	117180378	NM_000492.3:c.1093_1094delCT	NP_000483.3:p.Leu365Trpfs	NC_000007.13:g.117180377_117180378delCT	OMIM Allelic Variant:602421.0050	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1094T>C (p.Leu365Pro)	1080	CFTR	not provided	76727851	RCV000046231;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180378	117180378	NM_000492.3:c.1094T>C	NP_000483.3:p.Leu365Pro	NC_000007.13:g.117180378T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1106_1111dupACAAAA (p.Lys370_Ile371insAsnLys)	1080	CFTR	not provided	397508156	RCV000046232;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180390	117180395	NM_000492.3:c.1106_1111dupACAAAA	NP_000483.3:p.Lys370_Ile371insAsnLys	NC_000007.13:g.117180390_117180395dupACAAAA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1116+1G>A	1080	CFTR	Pathogenic	397508158	RCV000056340;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180401	117180401	NM_000492.3:c.1116+1G>A		NC_000007.13:g.117180401G>A,NC_000007.13:g.117180401G>C	CFTR2:1248+1G->A	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1116+1G>C	1080	CFTR	not provided	397508158	RCV000046235;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180401	117180401	NM_000492.3:c.1116+1G>C		NC_000007.13:g.117180401G>A,NC_000007.13:g.117180401G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1116+17C>T	1080	CFTR	not provided	397508157	RCV000046233;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117180417	117180417	NM_000492.3:c.1116+17C>T		NC_000007.13:g.117180417C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1117-30_1117-29delTA	1080	CFTR	not provided	397508160	RCV000046237;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182040	117182041	NM_000492.3:c.1117-30_1117-29delTA		NC_000007.13:g.117182040_117182041delTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1117-27_1117-26delTA	1080	CFTR	not provided	397508159	RCV000046236;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182043	117182044	NM_000492.3:c.1117-27_1117-26delTA		NC_000007.13:g.117182043_117182044delTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1117-5A>G	1080	CFTR	not provided	397508161	RCV000046238;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182065	117182065	NM_000492.3:c.1117-5A>G		NC_000007.13:g.117182065A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1117-1G>A	1080	CFTR	Pathogenic	797045160	RCV000191004;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182069	117182069	NM_000492.3:c.1117-1G>A		NC_000007.13:g.117182069G>A	CFTR2:257	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1117G>A (p.Asp373Asn)	1080	CFTR	Pathogenic	556880586	RCV000149423;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182070	117182070	NM_000492.3:c.1117G>A	NP_000483.3:p.Asp373Asn	NC_000007.13:g.117182070G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1125A>C (p.Leu375Phe)	1080	CFTR	not provided	73215912	RCV000046240;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182078	117182078	NM_000492.3:c.1125A>C	NP_000483.3:p.Leu375Phe	NC_000007.13:g.117182078A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1128dupA (p.Gln378Alafs)	1080	CFTR	Pathogenic	397508163	RCV000056341;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182081	117182081	NM_000492.3:c.1128dupA	NP_000483.3:p.Gln378Alafs	NC_000007.13:g.117182081dupA	CFTR2:1259insA	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1135G>A (p.Glu379Lys)	1080	CFTR	not provided	397508165	RCV000046243;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182088	117182088	NM_000492.3:c.1135G>A	NP_000483.3:p.Glu379Lys	NC_000007.13:g.117182088G>A,NC_000007.13:g.117182088G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1135G>T (p.Glu379Ter)	1080	CFTR	not provided	397508165	RCV000046244;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182088	117182088	NM_000492.3:c.1135G>T	NP_000483.3:p.Glu379Ter	NC_000007.13:g.117182088G>A,NC_000007.13:g.117182088G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1148T>C (p.Leu383Ser)	1080	CFTR	not provided	397508166	RCV000046245;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182101	117182101	NM_000492.3:c.1148T>C	NP_000483.3:p.Leu383Ser	NC_000007.13:g.117182101T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1152delA (p.Glu384Aspfs)	1080	CFTR	not provided	397508167	RCV000046246;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182105	117182105	NM_000492.3:c.1152delA	NP_000483.3:p.Glu384Aspfs	NC_000007.13:g.117182105delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1152_1153dupAT (p.Asn386Ilefs)	1080	CFTR	Pathogenic	121908785	RCV000046247;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182105	117182106	NM_000492.3:c.1152_1153dupAT	NP_000483.3:p.Asn386Ilefs	NC_000007.13:g.117182105_117182106dupAT	CFTR2:180	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1162_1168delACGACTA (p.Thr388Glnfs)	1080	CFTR	not provided	397508169	RCV000046249;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182115	117182121	NM_000492.3:c.1162_1168delACGACTA	NP_000483.3:p.Thr388Glnfs	NC_000007.13:g.117182115_117182121delACGACTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1175T>C (p.Val392Ala)	1080	CFTR	not provided	397508170	RCV000046250;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182128	117182128	NM_000492.3:c.1175T>C	NP_000483.3:p.Val392Ala	NC_000007.13:g.117182128T>C,NC_000007.13:g.117182128T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1175T>G (p.Val392Gly)	1080	CFTR	not provided	397508170	RCV000046251;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182128	117182128	NM_000492.3:c.1175T>G	NP_000483.3:p.Val392Gly	NC_000007.13:g.117182128T>C,NC_000007.13:g.117182128T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1177delG (p.Val393Terfs)	1080	CFTR	not provided	397508171	RCV000046252;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182130	117182130	NM_000492.3:c.1177delG	NP_000483.3:p.Val393Terfs	NC_000007.13:g.117182130delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1181T>G (p.Met394Arg)	1080	CFTR	not provided	397508172	RCV000046253;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182134	117182134	NM_000492.3:c.1181T>G	NP_000483.3:p.Met394Arg	NC_000007.13:g.117182134T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1196C>A (p.Ala399Asp)	1080	CFTR	not provided	146463120	RCV000046254;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182149	117182149	NM_000492.3:c.1196C>A	NP_000483.3:p.Ala399Asp	NC_000007.13:g.117182149C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1202G>A (p.Trp401Ter)	1080	CFTR	Pathogenic	397508174	RCV000056343;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182155	117182155	NM_000492.3:c.1202G>A	NP_000483.3:p.Trp401Ter	NC_000007.13:g.117182155G>A	CFTR2:W401X_67880	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1203G>A (p.Trp401Ter)	1080	CFTR	Pathogenic	397508175	RCV000056344;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182156	117182156	NM_000492.3:c.1203G>A	NP_000483.3:p.Trp401Ter	NC_000007.13:g.117182156G>A	CFTR2:W401X_67881	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1209G>A (p.Glu403=)	1080	CFTR	not provided	397508177	RCV000046259;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182162	117182162	NM_000492.3:c.1209G>A	NP_000483.3:p.Glu403=	NC_000007.13:g.117182162G>A,NC_000007.13:g.117182162G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1209G>C (p.Glu403Asp)	1080	CFTR	not provided	397508177	RCV000046260;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182162	117182162	NM_000492.3:c.1209G>C	NP_000483.3:p.Glu403Asp	NC_000007.13:g.117182162G>A,NC_000007.13:g.117182162G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1209+1G>A	1080	CFTR	Pathogenic	397508176	RCV000056345;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182163	117182163	NM_000492.3:c.1209+1G>A		NC_000007.13:g.117182163G>A	CFTR2:1341+1G->A	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1209+18A>C	1080	CFTR	Uncertain significance	193922499	RCV000029471;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117182180	117182180	NM_000492.3:c.1209+18A>C		NC_000007.13:g.117182180A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1210-12[5]	1080	CFTR	Pathogenic	-1	RCV000190992;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188683	117188683	NM_000492.3:c.1210-12[5]			CFTR2:219	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.1210-11T>G	1080	CFTR	Likely pathogenic	73715573	RCV000155471;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48	7	117188684	117188684	NM_000492.3:c.1210-11T>G		NC_000007.13:g.117188684T>G	-	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1210-7_1210-6delTT	1080	CFTR	Pathogenic;Uncertain significance	727504486	RCV000173692; RCV000173693; RCV000155619;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48; MedGen:CN169374	7	117188688	117188689	NM_000492.3:c.1210-7_1210-6delTT		NC_000007.13:g.117188688_117188689delTT	-	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.1210-2A>C	1080	CFTR	not provided	397508179	RCV000046262;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188693	117188693	NM_000492.3:c.1210-2A>C		NC_000007.13:g.117188693A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1210-1G>C	1080	CFTR	not provided	397508178	RCV000046261;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188694	117188694	NM_000492.3:c.1210-1G>C		NC_000007.13:g.117188694G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1220A>T (p.Glu407Val)	1080	CFTR	not provided	397508180	RCV000046263;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188705	117188705	NM_000492.3:c.1220A>T	NP_000483.3:p.Glu407Val	NC_000007.13:g.117188705A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1234delG (p.Ala412Glnfs)	1080	CFTR	not provided	397508181	RCV000046264;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188719	117188719	NM_000492.3:c.1234delG	NP_000483.3:p.Ala412Glnfs	NC_000007.13:g.117188719delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1235delC (p.Ala412Glufs)	1080	CFTR	not provided	397508182	RCV000046265;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188720	117188720	NM_000492.3:c.1235delC	NP_000483.3:p.Ala412Glufs	NC_000007.13:g.117188720delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1240C>T (p.Gln414Ter)	1080	CFTR	Pathogenic	397508183	RCV000046266;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188725	117188725	NM_000492.3:c.1240C>T	NP_000483.3:p.Gln414Ter	NC_000007.13:g.117188725C>T	CFTR2:199	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1240_1244delCAAAA (p.Asn415Terfs)	1080	CFTR	not provided	397508184	RCV000046267;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188725	117188729	NM_000492.3:c.1240_1244delCAAAA	NP_000483.3:p.Asn415Terfs	NC_000007.13:g.117188725_117188729delCAAAA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1253A>G (p.Asn418Ser)	1080	CFTR	not provided	397508185	RCV000046268;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188738	117188738	NM_000492.3:c.1253A>G	NP_000483.3:p.Asn418Ser	NC_000007.13:g.117188738A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1297_1303delTTCTCAC (p.Ser434Leufs)	1080	CFTR	not provided	397508186	RCV000046270;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188782	117188788	NM_000492.3:c.1297_1303delTTCTCAC	NP_000483.3:p.Ser434Leufs	NC_000007.13:g.117188782_117188788delTTCTCAC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1315C>T (p.Pro439Ser)	1080	CFTR	not provided	397508187	RCV000046271;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188800	117188800	NM_000492.3:c.1315C>T	NP_000483.3:p.Pro439Ser	NC_000007.13:g.117188800C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1322T>C (p.Leu441Pro)	1080	CFTR	not provided	397508188	RCV000046273;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188807	117188807	NM_000492.3:c.1322T>C	NP_000483.3:p.Leu441Pro	NC_000007.13:g.117188807T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr)	1080	CFTR	Pathogenic;Uncertain significance	147422190	RCV000046274; RCV000078976; RCV000150335;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374; MedGen:CN221809	7	117188812	117188812	NM_000492.3:c.1327G>T	NP_000483.3:p.Asp443Tyr	NC_000007.13:g.117188812G>T	HGMD:CM970275	C0010674 219700 Cystic fibrosis; CN221809 not provided; CN169374 not specified
NM_000492.3(CFTR):c.1327_1330dupGATA (p.Ile444Argfs)	1080	CFTR	Pathogenic	397508189	RCV000169333;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188812	117188815	NM_000492.3:c.1327_1330dupGATA	NP_000483.3:p.Ile444Argfs	NC_000007.13:g.117188812_117188815dupGATA	CFTR2:1461ins4	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1330_1331delAT (p.Ile444Terfs)	1080	CFTR	not provided	397508190	RCV000046276;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188815	117188816	NM_000492.3:c.1330_1331delAT	NP_000483.3:p.Ile444Terfs	NC_000007.13:g.117188815_117188816delAT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1331T>G (p.Ile444Ser)	1080	CFTR	not provided	397508191	RCV000046277;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188816	117188816	NM_000492.3:c.1331T>G	NP_000483.3:p.Ile444Ser	NC_000007.13:g.117188816T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1340delA (p.Lys447Argfs)	1080	CFTR	Pathogenic	397508192	RCV000046278;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188825	117188825	NM_000492.3:c.1340delA	NP_000483.3:p.Lys447Argfs	NC_000007.13:g.117188825delA	CFTR2:181	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1355A>C (p.Gln452Pro)	1080	CFTR	not provided	397508193	RCV000046279;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188840	117188840	NM_000492.3:c.1355A>C	NP_000483.3:p.Gln452Pro	NC_000007.13:g.117188840A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1360_1362delTTG (p.Leu454del)	1080	CFTR	Uncertain significance	397508194	RCV000046280; RCV000173694;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117188845	117188847	NM_000492.3:c.1360_1362delTTG	NP_000483.3:p.Leu454del	NC_000007.13:g.117188845_117188847delTTG	-	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu)	1080	CFTR	Pathogenic	74551128	RCV000007531;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188849	117188849	NM_000492.3:c.1364C>A	NP_000483.3:p.Ala455Glu	NC_000007.13:g.117188849C>A	CFTR2:A455E,OMIM Allelic Variant:602421.0007	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1365G>A (p.Ala455=)	1080	CFTR	Likely benign	79074685	RCV000029473;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188850	117188850	NM_000492.3:c.1365G>A	NP_000483.3:p.Ala455=	NC_000007.13:g.117188850G>A,NC_000007.13:g.117188850G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1365_1366delGG (p.Val456Cysfs)	1080	CFTR	Pathogenic	797045161	RCV000191006;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188850	117188851	NM_000492.3:c.1365_1366delGG	NP_000483.3:p.Val456Cysfs	NC_000007.13:g.117188850_117188851delGG	CFTR2:262	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1366G>T (p.Val456Phe)	1080	CFTR	not provided	397508195	RCV000046282;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188851	117188851	NM_000492.3:c.1366G>T	NP_000483.3:p.Val456Phe	NC_000007.13:g.117188851G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala)	1080	CFTR	Likely pathogenic	193922500	RCV000029474;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188852	117188852	NM_000492.3:c.1367T>C	NP_000483.3:p.Val456Ala	NC_000007.13:g.117188852T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1373G>T (p.Gly458Val)	1080	CFTR	Pathogenic	121909009	RCV000007552;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188858	117188858	NM_000492.3:c.1373G>T	NP_000483.3:p.Gly458Val	NC_000007.13:g.117188858G>T	OMIM Allelic Variant:602421.0028	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1373delG (p.Gly458Aspfs)	1080	CFTR	not provided	397508196	RCV000046285;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188858	117188858	NM_000492.3:c.1373delG	NP_000483.3:p.Gly458Aspfs	NC_000007.13:g.117188858delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1392G>T (p.Lys464Asn)	1080	CFTR	not provided	397508198	RCV000046288;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188877	117188877	NM_000492.3:c.1392G>T	NP_000483.3:p.Lys464Asn	NC_000007.13:g.117188877G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1392+1G>A	1080	CFTR	not provided	397508197	RCV000046287;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117188878	117188878	NM_000492.3:c.1392+1G>A		NC_000007.13:g.117188878G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1393-18G>A	1080	CFTR	not provided	397508199	RCV000046289;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199500	117199500	NM_000492.3:c.1393-18G>A		NC_000007.13:g.117199500G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1393-2A>G	1080	CFTR	Pathogenic	397508201	RCV000046291;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199516	117199516	NM_000492.3:c.1393-2A>G		NC_000007.13:g.117199516A>G	CFTR2:250	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1393-1G>A	1080	CFTR	Pathogenic	397508200	RCV000056347;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199517	117199517	NM_000492.3:c.1393-1G>A		NC_000007.13:g.117199517G>A	CFTR2:1525-1G->A	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1397C>G (p.Ser466Ter)	1080	CFTR	Pathogenic	121908805	RCV000029475;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199522	117199522	NM_000492.3:c.1397C>G	NP_000483.3:p.Ser466Ter	NC_000007.13:g.117199522C>A,NC_000007.13:g.117199522C>G,NC_000007.13:g.117199522	CFTR2:S466X_44486	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1397C>A (p.Ser466Ter)	1080	CFTR	Pathogenic	121908805	RCV000056348;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199522	117199522	NM_000492.3:c.1397C>A	NP_000483.3:p.Ser466Ter	NC_000007.13:g.117199522C>A,NC_000007.13:g.117199522C>G,NC_000007.13:g.117199522	CFTR2:S466X_67912	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1397C>T (p.Ser466Leu)	1080	CFTR	not provided	121908805	RCV000046294;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199522	117199522	NM_000492.3:c.1397C>T	NP_000483.3:p.Ser466Leu	NC_000007.13:g.117199522C>A,NC_000007.13:g.117199522C>G,NC_000007.13:g.117199522	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe)	1080	CFTR	not provided	1800089	RCV000046295;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199524	117199524	NM_000492.3:c.1399C>T	NP_000483.3:p.Leu467Phe	NC_000007.13:g.117199524C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro)	1080	CFTR	Pathogenic	139573311	RCV000029476;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199525	117199525	NM_000492.3:c.1400T>C	NP_000483.3:p.Leu467Pro	NC_000007.13:g.117199525T>C	CFTR2:L467P	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1403T>C (p.Leu468Pro)	1080	CFTR	not provided	397508202	RCV000046296;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199528	117199528	NM_000492.3:c.1403T>C	NP_000483.3:p.Leu468Pro	NC_000007.13:g.117199528T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1405A>G (p.Met469Val)	1080	CFTR	not provided	397508203	RCV000046297;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199530	117199530	NM_000492.3:c.1405A>G	NP_000483.3:p.Met469Val	NC_000007.13:g.117199530A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1407G>T (p.Met469Ile)	1080	CFTR	not provided	143218779	RCV000046298;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199532	117199532	NM_000492.3:c.1407G>T	NP_000483.3:p.Met469Ile	NC_000007.13:g.117199532G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1408G>A (p.Val470Met)	1080	CFTR	Benign;Likely benign	213950	RCV000007550; RCV000036517;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117199533	117199533	NM_000492.3:c.1408G>A	NP_000483.3:p.Val470Met	NC_000007.13:g.117199533Gx3d,NC_000007.13:g.117199533G>A	HGMD:CM034388,OMIM Allelic Variant:602421.0023	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.1408_1417delGTGATTATGG (p.Val470Glufs)	1080	CFTR	not provided	397508204	RCV000046299;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199533	117199542	NM_000492.3:c.1408_1417delGTGATTATGG	NP_000483.3:p.Val470Glufs	NC_000007.13:g.117199533_117199542delGTGATTATGG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1418delG (p.Gly473Glufs)	1080	CFTR	Pathogenic	397508205	RCV000046300;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199543	117199543	NM_000492.3:c.1418delG	NP_000483.3:p.Gly473Glufs	NC_000007.13:g.117199543delG	CFTR2:147	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1433_1434delCA (p.Ser478Terfs)	1080	CFTR	not provided	397508206	RCV000046301;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199558	117199559	NM_000492.3:c.1433_1434delCA	NP_000483.3:p.Ser478Terfs	NC_000007.13:g.117199558_117199559delCA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1435G>T (p.Glu479Ter)	1080	CFTR	not provided	397508207	RCV000046302;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199560	117199560	NM_000492.3:c.1435G>T	NP_000483.3:p.Glu479Ter	NC_000007.13:g.117199560G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1438G>T (p.Gly480Cys)	1080	CFTR	Pathogenic	79282516	RCV000007607; RCV000078977;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117199563	117199563	NM_000492.3:c.1438G>T	NP_000483.3:p.Gly480Cys	NC_000007.13:g.117199563G>A,NC_000007.13:g.117199563G>T	HGMD:CM920155,OMIM Allelic Variant:602421.0083	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.1438G>A (p.Gly480Ser)	1080	CFTR	not provided	79282516	RCV000046303;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199563	117199563	NM_000492.3:c.1438G>A	NP_000483.3:p.Gly480Ser	NC_000007.13:g.117199563G>A,NC_000007.13:g.117199563G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1439G>A (p.Gly480Asp)	1080	CFTR	not provided	397508208	RCV000046305;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199564	117199564	NM_000492.3:c.1439G>A	NP_000483.3:p.Gly480Asp	NC_000007.13:g.117199564G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1445dupT (p.Lys483Terfs)	1080	CFTR	not provided	397508209	RCV000046306;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199570	117199570	NM_000492.3:c.1445dupT	NP_000483.3:p.Lys483Terfs	NC_000007.13:g.117199570dupT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1450C>T (p.His484Tyr)	1080	CFTR	not provided	397508210	RCV000046307;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199575	117199575	NM_000492.3:c.1450C>T	NP_000483.3:p.His484Tyr	NC_000007.13:g.117199575C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1453A>T (p.Ser485Cys)	1080	CFTR	not provided	138427145	RCV000046308;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199578	117199578	NM_000492.3:c.1453A>T	NP_000483.3:p.Ser485Cys	NC_000007.13:g.117199578A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1466C>A (p.Ser489Ter)	1080	CFTR	Pathogenic	397508211	RCV000056349;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199591	117199591	NM_000492.3:c.1466C>A	NP_000483.3:p.Ser489Ter	NC_000007.13:g.117199591C>A	CFTR2:S489X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1469_1470delTC (p.Phe490Leufs)	1080	CFTR	not provided	397508212	RCV000046310;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199594	117199595	NM_000492.3:c.1469_1470delTC	NP_000483.3:p.Phe490Leufs	NC_000007.13:g.117199594_117199595delTC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1471T>C (p.Cys491Arg)	1080	CFTR	not provided	397508213	RCV000046311;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199596	117199596	NM_000492.3:c.1471T>C	NP_000483.3:p.Cys491Arg	NC_000007.13:g.117199596T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe)	1080	CFTR	Pathogenic	121909017	RCV000007575;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199600	117199600	NM_000492.3:c.1475C>T	NP_000483.3:p.Ser492Phe	NC_000007.13:g.117199600C>T	CFTR2:S492F,OMIM Allelic Variant:602421.0051	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter)	1080	CFTR	Pathogenic	77101217	RCV000007526;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199602	117199602	NM_000492.3:c.1477C>T	NP_000483.3:p.Gln493Ter	NC_000007.13:g.117199602C>T	CFTR2:Q493X,OMIM Allelic Variant:602421.0003	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1477_1478delCA (p.Gln493Valfs)	1080	CFTR	Pathogenic	121908775	RCV000007640;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199602	117199603	NM_000492.3:c.1477_1478delCA	NP_000483.3:p.Gln493Valfs	NC_000007.13:g.117199602_117199603delCA	CFTR2:228,OMIM Allelic Variant:602421.0115	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1478A>C (p.Gln493Pro)	1080	CFTR	not provided	397508214	RCV000046315;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199603	117199603	NM_000492.3:c.1478A>C	NP_000483.3:p.Gln493Pro	NC_000007.13:g.117199603A>C,NC_000007.13:g.117199603A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1478A>G (p.Gln493Arg)	1080	CFTR	not provided	397508214	RCV000046316;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199603	117199603	NM_000492.3:c.1478A>G	NP_000483.3:p.Gln493Arg	NC_000007.13:g.117199603A>C,NC_000007.13:g.117199603A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1482_1483delTT (p.Ser495Leufs)	1080	CFTR	not provided	397508215	RCV000046317;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199607	117199608	NM_000492.3:c.1482_1483delTT	NP_000483.3:p.Ser495Leufs	NC_000007.13:g.117199607_117199608delTT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1487G>A (p.Trp496Ter)	1080	CFTR	not provided	397508216	RCV000046318;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199612	117199612	NM_000492.3:c.1487G>A	NP_000483.3:p.Trp496Ter	NC_000007.13:g.117199612G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1494G>C (p.Met498Ile)	1080	CFTR	not provided	397508218	RCV000046320;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199619	117199619	NM_000492.3:c.1494G>C	NP_000483.3:p.Met498Ile	NC_000007.13:g.117199619G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1495C>G (p.Pro499Ala)	1080	CFTR	not provided	397508219	RCV000046321;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199620	117199620	NM_000492.3:c.1495C>G	NP_000483.3:p.Pro499Ala	NC_000007.13:g.117199620C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1501A>G (p.Thr501Ala)	1080	CFTR	not provided	397508221	RCV000046324;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199626	117199626	NM_000492.3:c.1501A>G	NP_000483.3:p.Thr501Ala	NC_000007.13:g.117199626A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1505T>A (p.Ile502Asn)	1080	CFTR	not provided	397508222	RCV000046325;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199630	117199630	NM_000492.3:c.1505T>A	NP_000483.3:p.Ile502Asn	NC_000007.13:g.117199630T>A,NC_000007.13:g.117199630T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1505T>C (p.Ile502Thr)	1080	CFTR	not provided	397508222	RCV000046326;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199630	117199630	NM_000492.3:c.1505T>C	NP_000483.3:p.Ile502Thr	NC_000007.13:g.117199630T>A,NC_000007.13:g.117199630T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1510G>C (p.Glu504Gln)	1080	CFTR	not provided	397508223	RCV000046327;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199635	117199635	NM_000492.3:c.1510G>C	NP_000483.3:p.Glu504Gln	NC_000007.13:g.117199635G>C,NC_000007.13:g.117199635G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1510G>T (p.Glu504Ter)	1080	CFTR	not provided	397508223	RCV000046328;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199635	117199635	NM_000492.3:c.1510G>T	NP_000483.3:p.Glu504Ter	NC_000007.13:g.117199635G>C,NC_000007.13:g.117199635G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val)	1080	CFTR	Benign	1800091	RCV000007551;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199641	117199641	NM_000492.3:c.1516A>G	NP_000483.3:p.Ile506Val	NC_000007.13:g.117199641A>C,NC_000007.13:g.117199641A>G	OMIM Allelic Variant:602421.0024	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1516A>C (p.Ile506Leu)	1080	CFTR	not provided	1800091	RCV000046329;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199641	117199641	NM_000492.3:c.1516A>C	NP_000483.3:p.Ile506Leu	NC_000007.13:g.117199641A>C,NC_000007.13:g.117199641A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1517T>C (p.Ile506Thr)	1080	CFTR	not provided	397508224	RCV000046330;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199642	117199642	NM_000492.3:c.1517T>C	NP_000483.3:p.Ile506Thr	NC_000007.13:g.117199642T>C,NC_000007.13:g.117199642T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1517T>G (p.Ile506Ser)	1080	CFTR	not provided	397508224	RCV000046331;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199642	117199642	NM_000492.3:c.1517T>G	NP_000483.3:p.Ile506Ser	NC_000007.13:g.117199642T>C,NC_000007.13:g.117199642T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1518C>G (p.Ile506Met)	1080	CFTR	Pathogenic	1800092	RCV000046332;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199643	117199643	NM_000492.3:c.1518C>G	NP_000483.3:p.Ile506Met	NC_000007.13:g.117199643C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1519_1521delATC (p.Ile507del)	1080	CFTR	Pathogenic	121908745	RCV000007525;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199644	117199646	NM_000492.3:c.1519_1521delATC	NP_000483.3:p.Ile507del	NC_000007.13:g.117199644_117199646delATC	CFTR2:I507del,OMIM Allelic Variant:602421.0002	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1519A>G (p.Ile507Val)	1080	CFTR	Likely benign	1801178	RCV000169215;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199644	117199644	NM_000492.3:c.1519A>G	NP_000483.3:p.Ile507Val	NC_000007.13:g.117199644A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe)	1080	CFTR	Pathogenic;drug response	113993960	RCV000007523; RCV000007524; RCV000119038; RCV000058929; RCV000211188;	Y	; MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0238339,OMIM:167800,SNOMED CT:68072000; MedGen:CN221809; MedGen:CN236562	7	117199646	117199648	NM_000492.3:c.1521_1523delCTT	NP_000483.3:p.Phe508del	NC_000007.13:g.117199646_117199648delCTT	CFTR2:F508del,HGMD:CD890142,OMIM Allelic Variant:602421.0001,PharmGKB Clinical Annotation:981755820,PharmGKB:981755820	C0010674 219700 Cystic fibrosis; C0238339 167800 Hereditary pancreatitis; CN236562 ivacaftor response - Efficacy; CN221809 not provided
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys)	1080	CFTR	Benign	74571530	RCV000007546; RCV000078978;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117199648	117199648	NM_000492.3:c.1523T>G	NP_000483.3:p.Phe508Cys	NC_000007.13:g.117199648T>C,NC_000007.13:g.117199648T>G	HGMD:CM900048,OMIM Allelic Variant:602421.0025	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.1523T>C (p.Phe508Ser)	1080	CFTR	not provided	74571530	RCV000046335;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199648	117199648	NM_000492.3:c.1523T>C	NP_000483.3:p.Phe508Ser	NC_000007.13:g.117199648T>C,NC_000007.13:g.117199648T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1538A>G (p.Asp513Gly)	1080	CFTR	not provided	397508225	RCV000046336;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199663	117199663	NM_000492.3:c.1538A>G	NP_000483.3:p.Asp513Gly	NC_000007.13:g.117199663A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1545_1546delTA (p.Tyr515Terfs)	1080	CFTR	Pathogenic	121908776	RCV000007560;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199670	117199671	NM_000492.3:c.1545_1546delTA	NP_000483.3:p.Tyr515Terfs	NC_000007.13:g.117199670_117199671delTA	CFTR2:1677delTA,Cystic Fibrosis Mutation Database:247,OMIM Allelic Variant:602421.0035	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1546A>G (p.Arg516Gly)	1080	CFTR	not provided	397508226	RCV000046338;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199671	117199671	NM_000492.3:c.1546A>G	NP_000483.3:p.Arg516Gly	NC_000007.13:g.117199671A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1558G>T (p.Val520Phe)	1080	CFTR	Pathogenic	77646904	RCV000007570;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199683	117199683	NM_000492.3:c.1558G>T	NP_000483.3:p.Val520Phe	NC_000007.13:g.117199683G>A,NC_000007.13:g.117199683G>T	CFTR2:V520F,OMIM Allelic Variant:602421.0046	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1558G>A (p.Val520Ile)	1080	CFTR	Uncertain significance	77646904	RCV000046339; RCV000078979;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117199683	117199683	NM_000492.3:c.1558G>A	NP_000483.3:p.Val520Ile	NC_000007.13:g.117199683G>A,NC_000007.13:g.117199683G>T	HGMD:CM941976	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.1572C>A (p.Cys524Ter)	1080	CFTR	Pathogenic	121908754	RCV000007571;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199697	117199697	NM_000492.3:c.1572C>A	NP_000483.3:p.Cys524Ter	NC_000007.13:g.117199697C>A	CFTR2:248,OMIM Allelic Variant:602421.0047	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1573C>T (p.Gln525Ter)	1080	CFTR	Pathogenic	397508227	RCV000046342;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199698	117199698	NM_000492.3:c.1573C>T	NP_000483.3:p.Gln525Ter	NC_000007.13:g.117199698C>T	CFTR2:137	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1579G>C (p.Glu527Gln)	1080	CFTR	not provided	397508228	RCV000046343;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199704	117199704	NM_000492.3:c.1579G>C	NP_000483.3:p.Glu527Gln	NC_000007.13:g.117199704G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1584G>T (p.Glu528Asp)	1080	CFTR	not provided	1800095	RCV000046350;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199709	117199709	NM_000492.3:c.1584G>T	NP_000483.3:p.Glu528Asp	NC_000007.13:g.117199709G>A,NC_000007.13:g.117199709G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1584+1G>A	1080	CFTR	not provided	397508230	RCV000046346;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199710	117199710	NM_000492.3:c.1584+1G>A		NC_000007.13:g.117199710G>A,NC_000007.13:g.117199710G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1584+1G>T	1080	CFTR	not provided	397508230	RCV000046347;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199710	117199710	NM_000492.3:c.1584+1G>T		NC_000007.13:g.117199710G>A,NC_000007.13:g.117199710G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1584+2T>C	1080	CFTR	not provided	397508231	RCV000046348;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199711	117199711	NM_000492.3:c.1584+2T>C		NC_000007.13:g.117199711T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1584+12T>C	1080	CFTR	Uncertain significance	193922502	RCV000029480;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199721	117199721	NM_000492.3:c.1584+12T>C		NC_000007.13:g.117199721T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1584+51_1584+61dupTACCCAAATTA	1080	CFTR	not provided	397508232	RCV000046349;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117199760	117199770	NM_000492.3:c.1584+51_1584+61dupTACCCAAATTA		NC_000007.13:g.117199760_117199770dupTACCCAAATTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1584+18672A>G	1080	CFTR	not provided	397508229	RCV000046345;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117218381	117218381	NM_000492.3:c.1584+18672A>G		NC_000007.13:g.117218381A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1585-9T>A	1080	CFTR	not provided	397508234	RCV000046354;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227784	117227784	NM_000492.3:c.1585-9T>A		NC_000007.13:g.117227784T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1585-8G>A	1080	CFTR	Pathogenic	193922503	RCV000029481;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227785	117227785	NM_000492.3:c.1585-8G>A		NC_000007.13:g.117227785G>A	CFTR2:1717-8G->A	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1585-2A>G	1080	CFTR	not provided	397508233	RCV000046352;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227791	117227791	NM_000492.3:c.1585-2A>G		NC_000007.13:g.117227791A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1585-1G>A	1080	CFTR	Pathogenic	76713772	RCV000007532;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227792	117227792	NM_000492.3:c.1585-1G>A		NC_000007.13:g.117227792G>A	CFTR2:1717-1G->A,Cystic Fibrosis Mutation Database:255,OMIM Allelic Variant:602421.0008	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1585G>C (p.Asp529His)	1080	CFTR	not provided	397508235	RCV000046355;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227793	117227793	NM_000492.3:c.1585G>C	NP_000483.3:p.Asp529His	NC_000007.13:g.117227793G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1586A>G (p.Asp529Gly)	1080	CFTR	not provided	397508236	RCV000046356;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227794	117227794	NM_000492.3:c.1586A>G	NP_000483.3:p.Asp529Gly	NC_000007.13:g.117227794A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1588A>C (p.Ile530Leu)	1080	CFTR	not provided	397508237	RCV000046357;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227796	117227796	NM_000492.3:c.1588A>C	NP_000483.3:p.Ile530Leu	NC_000007.13:g.117227796A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1597T>C (p.Phe533Leu)	1080	CFTR	not provided	397508238	RCV000046358;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227805	117227805	NM_000492.3:c.1597T>C	NP_000483.3:p.Phe533Leu	NC_000007.13:g.117227805T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1601C>A (p.Ala534Glu)	1080	CFTR	Pathogenic	387906368	RCV000007593;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227809	117227809	NM_000492.3:c.1601C>A	NP_000483.3:p.Ala534Glu	NC_000007.13:g.117227809C>A	Cystic Fibrosis Mutation Database:256,OMIM Allelic Variant:602421.0069	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1606A>T (p.Lys536Ter)	1080	CFTR	not provided	148173473	RCV000046360;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227814	117227814	NM_000492.3:c.1606A>T	NP_000483.3:p.Lys536Ter	NC_000007.13:g.117227814A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1610_1611delAC (p.Asp537Glufs)	1080	CFTR	not provided	397508239	RCV000046361;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227818	117227819	NM_000492.3:c.1610_1611delAC	NP_000483.3:p.Asp537Glufs	NC_000007.13:g.117227818_117227819delAC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1611C>A (p.Asp537Glu)	1080	CFTR	not provided	397508240	RCV000046362;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227819	117227819	NM_000492.3:c.1611C>A	NP_000483.3:p.Asp537Glu	NC_000007.13:g.117227819C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter)	1080	CFTR	Pathogenic	113993959	RCV000007535; RCV000119041; RCV000058931;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0238339,OMIM:167800,SNOMED CT:68072000; MedGen:CN221809	7	117227832	117227832	NM_000492.3:c.1624G>T	NP_000483.3:p.Gly542Ter	NC_000007.13:g.117227832G>T	CFTR2:G542X,HGMD:CM900049,OMIM Allelic Variant:602421.0009,OMIM Allelic Variant:602421.0095	C0010674 219700 Cystic fibrosis; C0238339 167800 Hereditary pancreatitis; CN221809 not provided
NM_000492.3(CFTR):c.1631G>T (p.Gly544Val)	1080	CFTR	not provided	397508241	RCV000046364;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227839	117227839	NM_000492.3:c.1631G>T	NP_000483.3:p.Gly544Val	NC_000007.13:g.117227839G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1635_1640delAATCAC (p.Ile546_Thr547del)	1080	CFTR	not provided	397508242	RCV000046365;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227843	117227848	NM_000492.3:c.1635_1640delAATCAC	NP_000483.3:p.Ile546_Thr547del	NC_000007.13:g.117227843_117227848delAATCAC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1642_1643delCT (p.Leu548Glufs)	1080	CFTR	not provided	397508246	RCV000046374;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227850	117227851	NM_000492.3:c.1642_1643delCT	NP_000483.3:p.Leu548Glufs	NC_000007.13:g.117227850_117227851delCT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg)	1080	CFTR	Pathogenic;drug response	121908757	RCV000043664; RCV000211346; RCV000007538;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117227853	117227853	NM_000492.3:c.1645A>C	NP_000483.3:p.Ser549Arg	NC_000007.13:g.117227853A>C	CFTR2:S549R_47338,Cystic Fibrosis Mutation Database:261,PharmGKB Clinical Annotation:1183960766,PharmGKB:1183960766	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.1645A>C (p.Ser549Arg)	1080	CFTR	Pathogenic;drug response	121908757	RCV000043664; RCV000211346; RCV000007538;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117227853	117227853	NM_000492.3:c.1645A>C	NP_000483.3:p.Ser549Arg	NC_000007.13:g.117227853A>C	CFTR2:S549R_47338,Cystic Fibrosis Mutation Database:261,PharmGKB Clinical Annotation:1183960766,PharmGKB:1183960766	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.1646G>A (p.Ser549Asn)	1080	CFTR	Pathogenic;drug response	121908755	RCV000007536; RCV000211264;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117227854	117227854	NM_000492.3:c.1646G>A	NP_000483.3:p.Ser549Asn	NC_000007.13:g.117227854G>A,NC_000007.13:g.117227854G>T	CFTR2:S549N,Cystic Fibrosis Mutation Database:262,OMIM Allelic Variant:602421.0010,PharmGKB Clinical Annotation:1183960318,PharmGKB:1183960318	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.1646G>T (p.Ser549Ile)	1080	CFTR	Pathogenic	121908755	RCV000007537;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227854	117227854	NM_000492.3:c.1646G>T	NP_000483.3:p.Ser549Ile	NC_000007.13:g.117227854G>A,NC_000007.13:g.117227854G>T	OMIM Allelic Variant:602421.0011	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg)	1080	CFTR	Pathogenic;drug response	121909005	RCV000056350; RCV000211129; RCV000007538;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117227855	117227855	NM_000492.3:c.1647T>G	NP_000483.3:p.Ser549Arg	NC_000007.13:g.117227855T>G	CFTR2:S549R_22157,OMIM Allelic Variant:602421.0012,PharmGKB Clinical Annotation:1183960775,PharmGKB:1183960775	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg)	1080	CFTR	Pathogenic;drug response	121909005	RCV000056350; RCV000211129; RCV000007538;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117227855	117227855	NM_000492.3:c.1647T>G	NP_000483.3:p.Ser549Arg	NC_000007.13:g.117227855T>G	CFTR2:S549R_22157,OMIM Allelic Variant:602421.0012,PharmGKB Clinical Annotation:1183960775,PharmGKB:1183960775	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.1648G>A (p.Gly550Arg)	1080	CFTR	not provided	397508247	RCV000046379;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227856	117227856	NM_000492.3:c.1648G>A	NP_000483.3:p.Gly550Arg	NC_000007.13:g.117227856G>A,NC_000007.13:g.117227856G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1648G>T (p.Gly550Ter)	1080	CFTR	Pathogenic	397508247	RCV000046380;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227856	117227856	NM_000492.3:c.1648G>T	NP_000483.3:p.Gly550Ter	NC_000007.13:g.117227856G>A,NC_000007.13:g.117227856G>T	CFTR2:256	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1650delA (p.Gly551Valfs)	1080	CFTR	Pathogenic	397508251	RCV000046387;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227858	117227858	NM_000492.3:c.1650delA	NP_000483.3:p.Gly551Valfs	NC_000007.13:g.117227858delA	CFTR2:193	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1651G>A (p.Gly551Ser)	1080	CFTR	Pathogenic;drug response	121909013	RCV000007562; RCV000211256;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117227859	117227859	NM_000492.3:c.1651G>A	NP_000483.3:p.Gly551Ser	NC_000007.13:g.117227859G>A	CFTR2:168,OMIM Allelic Variant:602421.0037,PharmGKB Clinical Annotation:1183960780,PharmGKB:1183960780	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp)	1080	CFTR	Pathogenic;drug response	75527207	RCV000007540; RCV000119040; RCV000211289;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0238339,OMIM:167800,SNOMED CT:68072000; MedGen:CN236562	7	117227860	117227860	NM_000492.3:c.1652G>A	NP_000483.3:p.Gly551Asp	NC_000007.13:g.117227860G>A	CFTR2:G551D,OMIM Allelic Variant:602421.0013,PharmGKB Clinical Annotation:981755803,PharmGKB:981755803	C0010674 219700 Cystic fibrosis; C0238339 167800 Hereditary pancreatitis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.1652delG (p.Gly551Valfs)	1080	CFTR	not provided	397508252	RCV000046390;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227860	117227860	NM_000492.3:c.1652delG	NP_000483.3:p.Gly551Valfs	NC_000007.13:g.117227860delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1654C>T (p.Gln552Ter)	1080	CFTR	Pathogenic	76554633	RCV000007622;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227862	117227862	NM_000492.3:c.1654C>T	NP_000483.3:p.Gln552Ter	NC_000007.13:g.117227862C>T	CFTR2:Q552X,OMIM Allelic Variant:602421.0096	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1656delA (p.Gln552Hisfs)	1080	CFTR	not provided	397508253	RCV000046392;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227864	117227864	NM_000492.3:c.1656delA	NP_000483.3:p.Gln552Hisfs	NC_000007.13:g.117227864delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1657C>T (p.Arg553Ter)	1080	CFTR	Pathogenic	74597325	RCV000007542;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227865	117227865	NM_000492.3:c.1657C>T	NP_000483.3:p.Arg553Ter	NC_000007.13:g.117227865C>G,NC_000007.13:g.117227865C>T	CFTR2:R553X,OMIM Allelic Variant:602421.0014	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1657C>G (p.Arg553Gly)	1080	CFTR	not provided	74597325	RCV000046393;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227865	117227865	NM_000492.3:c.1657C>G	NP_000483.3:p.Arg553Gly	NC_000007.13:g.117227865C>G,NC_000007.13:g.117227865C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1658G>A (p.Arg553Gln)	1080	CFTR	Pathogenic	121909044	RCV000007646;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227866	117227866	NM_000492.3:c.1658G>A	NP_000483.3:p.Arg553Gln	NC_000007.13:g.117227866G>A	OMIM Allelic Variant:602421.0121	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1660_1661insA (p.Ala554Aspfs)	1080	CFTR	not provided	397508254	RCV000046396;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227868	117227869	NM_000492.3:c.1660_1661insA	NP_000483.3:p.Ala554Aspfs	NC_000007.13:g.117227868_117227869insA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1663A>G (p.Arg555Gly)	1080	CFTR	not provided	397508255	RCV000046397;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227871	117227871	NM_000492.3:c.1663A>G	NP_000483.3:p.Arg555Gly	NC_000007.13:g.117227871A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1666A>G (p.Ile556Val)	1080	CFTR	Benign;Likely benign;Pathogenic	75789129	RCV000007617; RCV000174251;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117227874	117227874	NM_000492.3:c.1666A>G	NP_000483.3:p.Ile556Val	NC_000007.13:g.117227874A>G	OMIM Allelic Variant:602421.0090	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.1670delC (p.Ser557Phefs)	1080	CFTR	not provided	397508257	RCV000046400;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227878	117227878	NM_000492.3:c.1670delC	NP_000483.3:p.Ser557Phefs	NC_000007.13:g.117227878delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1673T>C (p.Leu558Ser)	1080	CFTR	Likely pathogenic	193922504	RCV000029483;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227881	117227881	NM_000492.3:c.1673T>C	NP_000483.3:p.Leu558Ser	NC_000007.13:g.117227881T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1674delA (p.Ala559Glnfs)	1080	CFTR	not provided	397508258	RCV000046402;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227882	117227882	NM_000492.3:c.1674delA	NP_000483.3:p.Ala559Glnfs	NC_000007.13:g.117227882delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1675G>A (p.Ala559Thr)	1080	CFTR	Pathogenic	75549581	RCV000007543;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227883	117227883	NM_000492.3:c.1675G>A	NP_000483.3:p.Ala559Thr	NC_000007.13:g.117227883G>A	CFTR2:A559T,OMIM Allelic Variant:602421.0015	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1676C>A (p.Ala559Glu)	1080	CFTR	not provided	397508259	RCV000046404;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227884	117227884	NM_000492.3:c.1676C>A	NP_000483.3:p.Ala559Glu	NC_000007.13:g.117227884C>A,NC_000007.13:g.117227884C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1676C>T (p.Ala559Val)	1080	CFTR	not provided	397508259	RCV000046405;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227884	117227884	NM_000492.3:c.1676C>T	NP_000483.3:p.Ala559Val	NC_000007.13:g.117227884C>A,NC_000007.13:g.117227884C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1678A>G (p.Arg560Gly)	1080	CFTR	not provided	397508260	RCV000046406;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227886	117227886	NM_000492.3:c.1678A>G	NP_000483.3:p.Arg560Gly	NC_000007.13:g.117227886A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1679G>C (p.Arg560Thr)	1080	CFTR	Pathogenic	80055610	RCV000007533;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227887	117227887	NM_000492.3:c.1679G>C	NP_000483.3:p.Arg560Thr	NC_000007.13:g.117227887G>A,NC_000007.13:g.117227887G>C	CFTR2:R560T,OMIM Allelic Variant:602421.0016	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1679G>A (p.Arg560Lys)	1080	CFTR	Pathogenic	80055610	RCV000007576;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227887	117227887	NM_000492.3:c.1679G>A	NP_000483.3:p.Arg560Lys	NC_000007.13:g.117227887G>A,NC_000007.13:g.117227887G>C	CFTR2:R560K,OMIM Allelic Variant:602421.0052	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1679+1G>C	1080	CFTR	Pathogenic	397508263	RCV000046411;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227888	117227888	NM_000492.3:c.1679+1G>C		NC_000007.13:g.117227888G>C	CFTR2:189	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1679+5A>G	1080	CFTR	not provided	397508264	RCV000046412;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227892	117227892	NM_000492.3:c.1679+5A>G		NC_000007.13:g.117227892A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1679+16T>C	1080	CFTR	not provided	397508262	RCV000046409;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227903	117227903	NM_000492.3:c.1679+16T>C		NC_000007.13:g.117227903T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1679+18G>A	1080	CFTR	not provided	369294289	RCV000046410;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117227905	117227905	NM_000492.3:c.1679+18G>A		NC_000007.13:g.117227905G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1680-886A>G	1080	CFTR	not provided	397508266	RCV000046417;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117229521	117229521	NM_000492.3:c.1680-886A>G		NC_000007.13:g.117229521A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1679+1643G>T	1080	CFTR	not provided	397508261	RCV000046407;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117229530	117229530	NM_000492.3:c.1679+1643G>T		NC_000007.13:g.117229530G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1680-870T>A	1080	CFTR	Benign	213965	RCV000046408; RCV000150338;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117229537	117229537	NM_000492.3:c.1680-870T>A		NC_000007.13:g.117229537T>A	-	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.1680-26T>C	1080	CFTR	not provided	397508265	RCV000046416;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230381	117230381	NM_000492.3:c.1680-26T>C		NC_000007.13:g.117230381T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1680-1G>A	1080	CFTR	Pathogenic	121908794	RCV000056352;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230406	117230406	NM_000492.3:c.1680-1G>A		NC_000007.13:g.117230406G>A	CFTR2:1812-1G->A,Cystic Fibrosis Mutation Database:284	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1680A>C (p.Arg560Ser)	1080	CFTR	not provided	397508267	RCV000046418;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230407	117230407	NM_000492.3:c.1680A>C	NP_000483.3:p.Arg560Ser	NC_000007.13:g.117230407A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1682C>A (p.Ala561Glu)	1080	CFTR	Pathogenic	121909047	RCV000007662;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230409	117230409	NM_000492.3:c.1682C>A	NP_000483.3:p.Ala561Glu	NC_000007.13:g.117230409C>A	CFTR2:164,OMIM Allelic Variant:602421.0136	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1682dupC (p.Val562Serfs)	1080	CFTR	not provided	397508268	RCV000046419;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230409	117230409	NM_000492.3:c.1682dupC	NP_000483.3:p.Val562Serfs	NC_000007.13:g.117230409dupC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile)	1080	CFTR	Uncertain significance	1800097	RCV000029484; RCV000174482;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117230411	117230411	NM_000492.3:c.1684G>A	NP_000483.3:p.Val562Ile	NC_000007.13:g.117230411G>A,NC_000007.13:g.117230411G>C	-	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu)	1080	CFTR	not provided	1800097	RCV000046421;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230411	117230411	NM_000492.3:c.1684G>C	NP_000483.3:p.Val562Leu	NC_000007.13:g.117230411G>A,NC_000007.13:g.117230411G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1687T>A (p.Tyr563Asn)	1080	CFTR	Pathogenic	121909006	RCV000007534;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230414	117230414	NM_000492.3:c.1687T>A	NP_000483.3:p.Tyr563Asn	NC_000007.13:g.117230414T>A,NC_000007.13:g.117230414T>G	OMIM Allelic Variant:602421.0017	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1687T>G (p.Tyr563Asp)	1080	CFTR	not provided	121909006	RCV000046423;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230414	117230414	NM_000492.3:c.1687T>G	NP_000483.3:p.Tyr563Asp	NC_000007.13:g.117230414T>A,NC_000007.13:g.117230414T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1692delA (p.Asp565Metfs)	1080	CFTR	Pathogenic	193922505	RCV000029485;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230419	117230419	NM_000492.3:c.1692delA	NP_000483.3:p.Asp565Metfs	NC_000007.13:g.117230419delA	CFTR2:211	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1694A>G (p.Asp565Gly)	1080	CFTR	not provided	397508270	RCV000046426;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230421	117230421	NM_000492.3:c.1694A>G	NP_000483.3:p.Asp565Gly	NC_000007.13:g.117230421A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1696G>A (p.Ala566Thr)	1080	CFTR	not provided	397508271	RCV000046427;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230423	117230423	NM_000492.3:c.1696G>A	NP_000483.3:p.Ala566Thr	NC_000007.13:g.117230423G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1703T>A (p.Leu568Ter)	1080	CFTR	not provided	397508273	RCV000046430;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230430	117230430	NM_000492.3:c.1703T>A	NP_000483.3:p.Leu568Ter	NC_000007.13:g.117230430T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1703delT (p.Leu568Cysfs)	1080	CFTR	not provided	397508274	RCV000046431;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230430	117230430	NM_000492.3:c.1703delT	NP_000483.3:p.Leu568Cysfs	NC_000007.13:g.117230430delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1704G>T (p.Leu568Phe)	1080	CFTR	not provided	397508275	RCV000046432;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230431	117230431	NM_000492.3:c.1704G>T	NP_000483.3:p.Leu568Phe	NC_000007.13:g.117230431G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1705T>C (p.Tyr569His)	1080	CFTR	not provided	397508276	RCV000046433;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230432	117230432	NM_000492.3:c.1705T>C	NP_000483.3:p.Tyr569His	NC_000007.13:g.117230432T>C,NC_000007.13:g.117230432T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1705T>G (p.Tyr569Asp)	1080	CFTR	Pathogenic	397508276	RCV000046434;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230432	117230432	NM_000492.3:c.1705T>G	NP_000483.3:p.Tyr569Asp	NC_000007.13:g.117230432T>C,NC_000007.13:g.117230432T>G	CFTR2:161	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1706A>G (p.Tyr569Cys)	1080	CFTR	not provided	397508277	RCV000046435;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230433	117230433	NM_000492.3:c.1706A>G	NP_000483.3:p.Tyr569Cys	NC_000007.13:g.117230433A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1707T>A (p.Tyr569Ter)	1080	CFTR	not provided	397508278	RCV000046436;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230434	117230434	NM_000492.3:c.1707T>A	NP_000483.3:p.Tyr569Ter	NC_000007.13:g.117230434T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1712T>C (p.Leu571Ser)	1080	CFTR	not provided	397508280	RCV000046438;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230439	117230439	NM_000492.3:c.1712T>C	NP_000483.3:p.Leu571Ser	NC_000007.13:g.117230439T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1713_1714delAG (p.Asp572Leufs)	1080	CFTR	not provided	397508281	RCV000046439;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230440	117230441	NM_000492.3:c.1713_1714delAG	NP_000483.3:p.Asp572Leufs	NC_000007.13:g.117230440_117230441delAG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1714G>A (p.Asp572Asn)	1080	CFTR	not provided	397508282	RCV000046440;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230441	117230441	NM_000492.3:c.1714G>A	NP_000483.3:p.Asp572Asn	NC_000007.13:g.117230441G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1720C>T (p.Pro574Ser)	1080	CFTR	not provided	397508283	RCV000046442;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230447	117230447	NM_000492.3:c.1720C>T	NP_000483.3:p.Pro574Ser	NC_000007.13:g.117230447C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1721C>A (p.Pro574His)	1080	CFTR	Pathogenic	121908758	RCV000007539;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230448	117230448	NM_000492.3:c.1721C>A	NP_000483.3:p.Pro574His	NC_000007.13:g.117230448C>A	OMIM Allelic Variant:602421.0018	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1726G>T (p.Gly576Ter)	1080	CFTR	not provided	397508284	RCV000046444;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230453	117230453	NM_000492.3:c.1726G>T	NP_000483.3:p.Gly576Ter	NC_000007.13:g.117230453G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala)	1080	CFTR	Pathogenic;Uncertain significance	1800098	RCV000029486; RCV000007585; RCV000078981; RCV000155472;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48; MedGen:CN169374; MedGen:CN221809	7	117230454	117230454	NM_000492.3:c.1727G>C	NP_000483.3:p.Gly576Ala	NC_000007.13:g.117230454G>C	HGMD:CM920164,OMIM Allelic Variant:602421.0061	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis; CN221809 not provided; CN169374 not specified
NM_000492.3(CFTR):c.1730A>T (p.Tyr577Phe)	1080	CFTR	not provided	397508286	RCV000046447;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230457	117230457	NM_000492.3:c.1730A>T	NP_000483.3:p.Tyr577Phe	NC_000007.13:g.117230457A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1731C>T (p.Tyr577=)	1080	CFTR	Uncertain significance	55928397	RCV000029487;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230458	117230458	NM_000492.3:c.1731C>T	NP_000483.3:p.Tyr577=	NC_000007.13:g.117230458C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1735G>T (p.Asp579Tyr)	1080	CFTR	not provided	397508287	RCV000046449;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230462	117230462	NM_000492.3:c.1735G>T	NP_000483.3:p.Asp579Tyr	NC_000007.13:g.117230462G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1736A>C (p.Asp579Ala)	1080	CFTR	not provided	397508288	RCV000046450;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230463	117230463	NM_000492.3:c.1736A>C	NP_000483.3:p.Asp579Ala	NC_000007.13:g.117230463A>C,NC_000007.13:g.117230463A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1736A>G (p.Asp579Gly)	1080	CFTR	not provided	397508288	RCV000046451;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230463	117230463	NM_000492.3:c.1736A>G	NP_000483.3:p.Asp579Gly	NC_000007.13:g.117230463A>C,NC_000007.13:g.117230463A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1738delG (p.Val580Phefs)	1080	CFTR	not provided	397508289	RCV000046452;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230465	117230465	NM_000492.3:c.1738delG	NP_000483.3:p.Val580Phefs	NC_000007.13:g.117230465delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1740dupT (p.Leu581Phefs)	1080	CFTR	not provided	397508290	RCV000046453;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230467	117230467	NM_000492.3:c.1740dupT	NP_000483.3:p.Leu581Phefs	NC_000007.13:g.117230467dupT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1744A>T (p.Thr582Ser)	1080	CFTR	not provided	397508292	RCV000046455;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230471	117230471	NM_000492.3:c.1744A>T	NP_000483.3:p.Thr582Ser	NC_000007.13:g.117230471A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1745C>G (p.Thr582Arg)	1080	CFTR	not provided	397508293	RCV000046456;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230472	117230472	NM_000492.3:c.1745C>G	NP_000483.3:p.Thr582Arg	NC_000007.13:g.117230472C>G,NC_000007.13:g.117230472C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1745C>T (p.Thr582Ile)	1080	CFTR	not provided	397508293	RCV000046457;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230472	117230472	NM_000492.3:c.1745C>T	NP_000483.3:p.Thr582Ile	NC_000007.13:g.117230472C>G,NC_000007.13:g.117230472C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1753G>T (p.Glu585Ter)	1080	CFTR	Pathogenic	397508296	RCV000056353;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230480	117230480	NM_000492.3:c.1753G>T	NP_000483.3:p.Glu585Ter	NC_000007.13:g.117230480G>T	CFTR2:E585X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1763A>T (p.Glu588Val)	1080	CFTR	not provided	397508297	RCV000046461;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230490	117230490	NM_000492.3:c.1763A>T	NP_000483.3:p.Glu588Val	NC_000007.13:g.117230490A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn)	1080	CFTR	not provided	397508300	RCV000046470;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230493	117230493	NM_000492.3:c.1766G>A	NP_000483.3:p.Ser589Asn	NC_000007.13:g.117230493G>A,NC_000007.13:g.117230493G>C,NC_000007.13:g.117230493	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766G>C (p.Ser589Thr)	1080	CFTR	not provided	397508300	RCV000046471;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230493	117230493	NM_000492.3:c.1766G>C	NP_000483.3:p.Ser589Thr	NC_000007.13:g.117230493G>A,NC_000007.13:g.117230493G>C,NC_000007.13:g.117230493	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766G>T (p.Ser589Ile)	1080	CFTR	not provided	397508300	RCV000046472;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230493	117230493	NM_000492.3:c.1766G>T	NP_000483.3:p.Ser589Ile	NC_000007.13:g.117230493G>A,NC_000007.13:g.117230493G>C,NC_000007.13:g.117230493	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766+1G>A	1080	CFTR	Pathogenic	121908748	RCV000007588;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230494	117230494	NM_000492.3:c.1766+1G>A		NC_000007.13:g.117230494G>A,NC_000007.13:g.117230494G>C,NC_000007.13:g.117230494	CFTR2:1898+1G->A,Cystic Fibrosis Mutation Database:309,OMIM Allelic Variant:602421.0064	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766+1G>C	1080	CFTR	Pathogenic	121908748	RCV000046463;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230494	117230494	NM_000492.3:c.1766+1G>C		NC_000007.13:g.117230494G>A,NC_000007.13:g.117230494G>C,NC_000007.13:g.117230494	CFTR2:208	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766+1G>T	1080	CFTR	not provided	121908748	RCV000046464;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230494	117230494	NM_000492.3:c.1766+1G>T		NC_000007.13:g.117230494G>A,NC_000007.13:g.117230494G>C,NC_000007.13:g.117230494	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766+3A>C	1080	CFTR	not provided	397508298	RCV000046465;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230496	117230496	NM_000492.3:c.1766+3A>C		NC_000007.13:g.117230496A>C,NC_000007.13:g.117230496A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766+3A>G	1080	CFTR	Pathogenic	397508298	RCV000056354;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230496	117230496	NM_000492.3:c.1766+3A>G		NC_000007.13:g.117230496A>C,NC_000007.13:g.117230496A>G	CFTR2:1898+3A->G	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766+5G>T	1080	CFTR	not provided	121908796	RCV000046468;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230498	117230498	NM_000492.3:c.1766+5G>T		NC_000007.13:g.117230498G>A,NC_000007.13:g.117230498G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766+5G>A	1080	CFTR	not provided	121908796	RCV000046467;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230498	117230498	NM_000492.3:c.1766+5G>A		NC_000007.13:g.117230498G>A,NC_000007.13:g.117230498G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1766+73T>G	1080	CFTR	not provided	397508299	RCV000046469;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117230566	117230566	NM_000492.3:c.1766+73T>G		NC_000007.13:g.117230566T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1786_1787delGC (p.Ala596Terfs)	1080	CFTR	not provided	397508301	RCV000046473;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232007	117232008	NM_000492.3:c.1786_1787delGC	NP_000483.3:p.Ala596Terfs	NC_000007.13:g.117232007_117232008delGC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1792A>T (p.Lys598Ter)	1080	CFTR	not provided	397508302	RCV000046476;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232013	117232013	NM_000492.3:c.1792A>T	NP_000483.3:p.Lys598Ter	NC_000007.13:g.117232013A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1792_1798delAAAACTA (p.Lys598Glyfs)	1080	CFTR	Pathogenic	397508303	RCV000046477;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232013	117232019	NM_000492.3:c.1792_1798delAAAACTA	NP_000483.3:p.Lys598Glyfs	NC_000007.13:g.117232013_117232019delAAAACTA	CFTR2:255,Cystic Fibrosis Mutation Database:317	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1797T>A (p.Thr599=)	1080	CFTR	not provided	397508304	RCV000046478;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232018	117232018	NM_000492.3:c.1797T>A	NP_000483.3:p.Thr599=	NC_000007.13:g.117232018T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1798A>G (p.Arg600Gly)	1080	CFTR	not provided	397508305	RCV000046479;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232019	117232019	NM_000492.3:c.1798A>G	NP_000483.3:p.Arg600Gly	NC_000007.13:g.117232019A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1801A>T (p.Ile601Phe)	1080	CFTR	not provided	397508306	RCV000046480;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232022	117232022	NM_000492.3:c.1801A>T	NP_000483.3:p.Ile601Phe	NC_000007.13:g.117232022A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1802T>C (p.Ile601Thr)	1080	CFTR	not provided	397508307	RCV000046481;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232023	117232023	NM_000492.3:c.1802T>C	NP_000483.3:p.Ile601Thr	NC_000007.13:g.117232023T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1807G>T (p.Val603Phe)	1080	CFTR	not provided	143036685	RCV000046482;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232028	117232028	NM_000492.3:c.1807G>T	NP_000483.3:p.Val603Phe	NC_000007.13:g.117232028G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1811C>G (p.Thr604Ser)	1080	CFTR	not provided	397508308	RCV000046483;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232032	117232032	NM_000492.3:c.1811C>G	NP_000483.3:p.Thr604Ser	NC_000007.13:g.117232032C>G,NC_000007.13:g.117232032C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1811C>T (p.Thr604Ile)	1080	CFTR	not provided	397508308	RCV000046484;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232032	117232032	NM_000492.3:c.1811C>T	NP_000483.3:p.Thr604Ile	NC_000007.13:g.117232032C>G,NC_000007.13:g.117232032C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1820_1903del84 (p.Met607_Gln634del)	1080	CFTR	Likely pathogenic;Pathogenic	121908777	RCV000046486;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232041	117232124	NM_000492.3:c.1820_1903del84	NP_000483.3:p.Met607_Gln634del	NC_000007.13:g.117232041_117232124del84	OMIM Allelic Variant:602421.0044	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1823A>G (p.Glu608Gly)	1080	CFTR	not provided	397508309	RCV000046487;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232044	117232044	NM_000492.3:c.1823A>G	NP_000483.3:p.Glu608Gly	NC_000007.13:g.117232044A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1826A>G (p.His609Arg)	1080	CFTR	not provided	397508310	RCV000046488;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232047	117232047	NM_000492.3:c.1826A>G	NP_000483.3:p.His609Arg	NC_000007.13:g.117232047A>G,NC_000007.13:g.117232047A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1826A>T (p.His609Leu)	1080	CFTR	not provided	397508310	RCV000046489;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232047	117232047	NM_000492.3:c.1826A>T	NP_000483.3:p.His609Leu	NC_000007.13:g.117232047A>G,NC_000007.13:g.117232047A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1829T>C (p.Leu610Ser)	1080	CFTR	not provided	397508311	RCV000046490;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232050	117232050	NM_000492.3:c.1829T>C	NP_000483.3:p.Leu610Ser	NC_000007.13:g.117232050T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1837G>A (p.Ala613Thr)	1080	CFTR	not provided	201978662	RCV000046491;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232058	117232058	NM_000492.3:c.1837G>A	NP_000483.3:p.Ala613Thr	NC_000007.13:g.117232058G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1840G>T (p.Asp614Tyr)	1080	CFTR	not provided	397508312	RCV000046492;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232061	117232061	NM_000492.3:c.1840G>T	NP_000483.3:p.Asp614Tyr	NC_000007.13:g.117232061G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1841A>G (p.Asp614Gly)	1080	CFTR	not provided	201124247	RCV000046493;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232062	117232062	NM_000492.3:c.1841A>G	NP_000483.3:p.Asp614Gly	NC_000007.13:g.117232062A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1853T>C (p.Ile618Thr)	1080	CFTR	Pathogenic	139468767	RCV000046494; RCV000078982;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117232074	117232074	NM_000492.3:c.1853T>C	NP_000483.3:p.Ile618Thr	NC_000007.13:g.117232074T>C	HGMD:CM970283	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.1856T>C (p.Leu619Ser)	1080	CFTR	not provided	397508313	RCV000046495;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232077	117232077	NM_000492.3:c.1856T>C	NP_000483.3:p.Leu619Ser	NC_000007.13:g.117232077T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1859A>C (p.His620Pro)	1080	CFTR	not provided	397508314	RCV000046496;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232080	117232080	NM_000492.3:c.1859A>C	NP_000483.3:p.His620Pro	NC_000007.13:g.117232080A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1860T>G (p.His620Gln)	1080	CFTR	not provided	397508315	RCV000046497;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232081	117232081	NM_000492.3:c.1860T>G	NP_000483.3:p.His620Gln	NC_000007.13:g.117232081T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp)	1080	CFTR	Pathogenic	121908759	RCV000046498;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232086	117232086	NM_000492.3:c.1865G>A	NP_000483.3:p.Gly622Asp	NC_000007.13:g.117232086G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1882G>A (p.Gly628Arg)	1080	CFTR	not provided	397508316	RCV000046499;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232103	117232103	NM_000492.3:c.1882G>A	NP_000483.3:p.Gly628Arg	NC_000007.13:g.117232103G>A,NC_000007.13:g.117232103G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1882G>C (p.Gly628Arg)	1080	CFTR	not provided	397508316	RCV000046500;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232103	117232103	NM_000492.3:c.1882G>C	NP_000483.3:p.Gly628Arg	NC_000007.13:g.117232103G>A,NC_000007.13:g.117232103G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1897C>A (p.Leu633Ile)	1080	CFTR	not provided	397508317	RCV000046501;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232118	117232118	NM_000492.3:c.1897C>A	NP_000483.3:p.Leu633Ile	NC_000007.13:g.117232118C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1898T>C (p.Leu633Pro)	1080	CFTR	not provided	397508318	RCV000046502;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232119	117232119	NM_000492.3:c.1898T>C	NP_000483.3:p.Leu633Pro	NC_000007.13:g.117232119T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1900C>T (p.Gln634Ter)	1080	CFTR	not provided	397508319	RCV000046503;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232121	117232121	NM_000492.3:c.1900C>T	NP_000483.3:p.Gln634Ter	NC_000007.13:g.117232121C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1909C>T (p.Gln637Ter)	1080	CFTR	not provided	397508320	RCV000046504;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232130	117232130	NM_000492.3:c.1909C>T	NP_000483.3:p.Gln637Ter	NC_000007.13:g.117232130C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1911delG (p.Gln637Hisfs)	1080	CFTR	Pathogenic	121908778	RCV000029489;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232132	117232132	NM_000492.3:c.1911delG	NP_000483.3:p.Gln637Hisfs	NC_000007.13:g.117232132delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1915G>T (p.Asp639Tyr)	1080	CFTR	not provided	397508321	RCV000046506;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232136	117232136	NM_000492.3:c.1915G>T	NP_000483.3:p.Asp639Tyr	NC_000007.13:g.117232136G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1919_1920delTT (p.Phe640Terfs)	1080	CFTR	not provided	397508322	RCV000046507;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232140	117232141	NM_000492.3:c.1919_1920delTT	NP_000483.3:p.Phe640Terfs	NC_000007.13:g.117232140_117232141delTT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1923_1931delCTCAAAACTinsA (p.Ser641Argfs)	1080	CFTR	Pathogenic	121908779	RCV000046508;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232144	117232152	NM_000492.3:c.1923_1931delCTCAAAACTinsA	NP_000483.3:p.Ser641Argfs	NC_000007.13:g.117232144_117232152delCTCAAAACTinsA	CFTR2:175,Cystic Fibrosis Mutation Database:328	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1943A>T (p.Asp648Val)	1080	CFTR	Pathogenic	121909033	RCV000007623;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232164	117232164	NM_000492.3:c.1943A>T	NP_000483.3:p.Asp648Val	NC_000007.13:g.117232164A>T	OMIM Allelic Variant:602421.0097	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1966G>T (p.Glu656Ter)	1080	CFTR	not provided	397508323	RCV000046510;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232187	117232187	NM_000492.3:c.1966G>T	NP_000483.3:p.Glu656Ter	NC_000007.13:g.117232187G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1973_1985delGAAATTCAATCCTinsAGAAA (p.Arg658Lysfs)	1080	CFTR	Pathogenic	121908780	RCV000046511;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232194	117232206	NM_000492.3:c.1973_1985delGAAATTCAATCCTinsAGAAA	NP_000483.3:p.Arg658Lysfs	NC_000007.13:g.117232194_117232206delGAAATTCAATCCTinsAGAAA	CFTR2:176	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1976delA (p.Asn659Ilefs)	1080	CFTR	not provided	121908809	RCV000046512;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232197	117232197	NM_000492.3:c.1976delA	NP_000483.3:p.Asn659Ilefs	NC_000007.13:g.117232197delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1981delA (p.Ile661Serfs)	1080	CFTR	not provided	397508324	RCV000046513;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232202	117232202	NM_000492.3:c.1981delA	NP_000483.3:p.Ile661Serfs	NC_000007.13:g.117232202delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1986_1989delAACT (p.Thr663Argfs)	1080	CFTR	Pathogenic	397508325	RCV000046515;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232207	117232210	NM_000492.3:c.1986_1989delAACT	NP_000483.3:p.Thr663Argfs	NC_000007.13:g.117232207_117232210delAACT	CFTR2:194	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.1990G>T (p.Glu664Ter)	1080	CFTR	not provided	397508327	RCV000046516;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232211	117232211	NM_000492.3:c.1990G>T	NP_000483.3:p.Glu664Ter	NC_000007.13:g.117232211G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys)	1080	CFTR	Uncertain significance	1800100	RCV000029490; RCV000078983; RCV000155473;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374; MedGen:CN221809	7	117232223	117232223	NM_000492.3:c.2002C>T	NP_000483.3:p.Arg668Cys	NC_000007.13:g.117232223C>T	HGMD:CM950247	C0010674 219700 Cystic fibrosis; CN221809 not provided; CN169374 not specified
NM_000492.3(CFTR):c.2010dupA (p.Leu671Ilefs)	1080	CFTR	not provided	397508329	RCV000046519;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232231	117232231	NM_000492.3:c.2010dupA	NP_000483.3:p.Leu671Ilefs	NC_000007.13:g.117232231dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2012delT (p.Leu671Terfs)	1080	CFTR	Pathogenic	121908812	RCV000029491;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232233	117232233	NM_000492.3:c.2012delT	NP_000483.3:p.Leu671Terfs	NC_000007.13:g.117232233delT	CFTR2:2143delT,Cystic Fibrosis Mutation Database:335	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2013_2015delAGA (p.Glu672del)	1080	CFTR	not provided	397508330	RCV000046522;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232234	117232236	NM_000492.3:c.2013_2015delAGA	NP_000483.3:p.Glu672del	NC_000007.13:g.117232234_117232236delAGA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2017G>T (p.Gly673Ter)	1080	CFTR	Pathogenic	397508331	RCV000046523;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232238	117232238	NM_000492.3:c.2017G>T	NP_000483.3:p.Gly673Ter	NC_000007.13:g.117232238G>T	CFTR2:238	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2036G>A (p.Trp679Ter)	1080	CFTR	Likely pathogenic	397508333	RCV000046525;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232257	117232257	NM_000492.3:c.2036G>A	NP_000483.3:p.Trp679Ter	NC_000007.13:g.117232257G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2045dupC (p.Gln685Thrfs)	1080	CFTR	not provided	397508334	RCV000046526;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232266	117232266	NM_000492.3:c.2045dupC	NP_000483.3:p.Gln685Thrfs	NC_000007.13:g.117232266dupC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2051_2052delAAinsG (p.Lys684Serfs)	1080	CFTR	Pathogenic	-1	RCV000029492;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232272	117232273	NM_000492.3:c.2051_2052delAAinsG	NP_000483.3:p.Lys684Serfs	NC_000007.13:g.117232272_117232273delAAinsG	CFTR2:2183AA->G	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2051_2052delAA (p.Lys684Thrfs)	1080	CFTR	not provided	730882055	RCV000046528;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232272	117232273	NM_000492.3:c.2051_2052delAA	NP_000483.3:p.Lys684Thrfs	NC_000007.13:g.117232272_117232273delAA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs)	1080	CFTR	Pathogenic	121908786	RCV000029493; RCV000152995;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117232273	117232273	NM_000492.3:c.2052dupA	NP_000483.3:p.Gln685Thrfs	NC_000007.13:g.117232273dupA	CFTR2:2184insA	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.2052delA (p.Lys684Asnfs)	1080	CFTR	Pathogenic	121908746	RCV000043563;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232273	117232273	NM_000492.3:c.2052delA	NP_000483.3:p.Lys684Asnfs	NC_000007.13:g.117232273delA	CFTR2:2184delA,Cystic Fibrosis Mutation Database:339	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2053C>T (p.Gln685Ter)	1080	CFTR	Pathogenic	397508336	RCV000046532;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232274	117232274	NM_000492.3:c.2053C>T	NP_000483.3:p.Gln685Ter	NC_000007.13:g.117232274C>T	CFTR2:277	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2053dupC (p.Gln685Profs)	1080	CFTR	Pathogenic	797045162	RCV000191011;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232274	117232274	NM_000492.3:c.2053dupC	NP_000483.3:p.Gln685Profs	NC_000007.13:g.117232274dupC	CFTR2:274	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2074G>T (p.Glu692Ter)	1080	CFTR	not provided	397508337	RCV000046533;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232295	117232295	NM_000492.3:c.2074G>T	NP_000483.3:p.Glu692Ter	NC_000007.13:g.117232295G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2077T>C (p.Phe693Leu)	1080	CFTR	not provided	397508338	RCV000046534;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232298	117232298	NM_000492.3:c.2077T>C	NP_000483.3:p.Phe693Leu	NC_000007.13:g.117232298T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2083dupG (p.Glu695Glyfs)	1080	CFTR	not provided	397508339	RCV000046535;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232304	117232304	NM_000492.3:c.2083dupG	NP_000483.3:p.Glu695Glyfs	NC_000007.13:g.117232304dupG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2087A>G (p.Lys696Arg)	1080	CFTR	not provided	397508340	RCV000046536;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232308	117232308	NM_000492.3:c.2087A>G	NP_000483.3:p.Lys696Arg	NC_000007.13:g.117232308A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2089dupA (p.Arg697Lysfs)	1080	CFTR	not provided	397508341	RCV000046537;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232310	117232310	NM_000492.3:c.2089dupA	NP_000483.3:p.Arg697Lysfs	NC_000007.13:g.117232310dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2125C>T (p.Arg709Ter)	1080	CFTR	Pathogenic	121908760	RCV000056359;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232346	117232346	NM_000492.3:c.2125C>T	NP_000483.3:p.Arg709Ter	NC_000007.13:g.117232346C>T	CFTR2:R709X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2126G>A (p.Arg709Gln)	1080	CFTR	not provided	397508342	RCV000046539;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232347	117232347	NM_000492.3:c.2126G>A	NP_000483.3:p.Arg709Gln	NC_000007.13:g.117232347G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2128A>T (p.Lys710Ter)	1080	CFTR	Pathogenic	75115087	RCV000007624;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232349	117232349	NM_000492.3:c.2128A>T	NP_000483.3:p.Lys710Ter	NC_000007.13:g.117232349A>T	CFTR2:K710X,OMIM Allelic Variant:602421.0098	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2143C>T (p.Gln715Ter)	1080	CFTR	not provided	397508343	RCV000046541;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232364	117232364	NM_000492.3:c.2143C>T	NP_000483.3:p.Gln715Ter	NC_000007.13:g.117232364C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2145_2146delAAinsGT (p.Lys716Ter)	1080	CFTR	not provided	397508344	RCV000046542;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232366	117232367	NM_000492.3:c.2145_2146delAAinsGT	NP_000483.3:p.Lys716Ter	NC_000007.13:g.117232366_117232367delAAinsGT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2146A>T (p.Lys716Ter)	1080	CFTR	Pathogenic	121909023	RCV000007594;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232367	117232367	NM_000492.3:c.2146A>T	NP_000483.3:p.Lys716Ter	NC_000007.13:g.117232367A>T	OMIM Allelic Variant:602421.0070	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2156T>A (p.Leu719Ter)	1080	CFTR	not provided	397508345	RCV000046543;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232377	117232377	NM_000492.3:c.2156T>A	NP_000483.3:p.Leu719Ter	NC_000007.13:g.117232377T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2158C>T (p.Gln720Ter)	1080	CFTR	not provided	397508346	RCV000046544;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232379	117232379	NM_000492.3:c.2158C>T	NP_000483.3:p.Gln720Ter	NC_000007.13:g.117232379C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2168G>T (p.Gly723Val)	1080	CFTR	not provided	200531709	RCV000046546;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232389	117232389	NM_000492.3:c.2168G>T	NP_000483.3:p.Gly723Val	NC_000007.13:g.117232389G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys)	1080	CFTR	not provided	199791061	RCV000046547;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232394	117232394	NM_000492.3:c.2173G>A	NP_000483.3:p.Glu725Lys	NC_000007.13:g.117232394G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2175dupA (p.Glu726Argfs)	1080	CFTR	Pathogenic	121908787	RCV000007605;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232396	117232396	NM_000492.3:c.2175dupA	NP_000483.3:p.Glu726Argfs	NC_000007.13:g.117232396dupA	CFTR2:2307insA,Cystic Fibrosis Mutation Database:348,OMIM Allelic Variant:602421.0081	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2188G>T (p.Glu730Ter)	1080	CFTR	not provided	397508349	RCV000046550;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232409	117232409	NM_000492.3:c.2188G>T	NP_000483.3:p.Glu730Ter	NC_000007.13:g.117232409G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2195T>G (p.Leu732Ter)	1080	CFTR	Pathogenic	397508350	RCV000056360;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232416	117232416	NM_000492.3:c.2195T>G	NP_000483.3:p.Leu732Ter	NC_000007.13:g.117232416T>G	CFTR2:L732X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2203delA (p.Arg735Glyfs)	1080	CFTR	not provided	397508351	RCV000046552;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232424	117232424	NM_000492.3:c.2203delA	NP_000483.3:p.Arg735Glyfs	NC_000007.13:g.117232424delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2204G>A (p.Arg735Lys)	1080	CFTR	not provided	397508352	RCV000046553;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232425	117232425	NM_000492.3:c.2204G>A	NP_000483.3:p.Arg735Lys	NC_000007.13:g.117232425G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2210C>T (p.Ser737Phe)	1080	CFTR	not provided	186089140	RCV000046554;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232431	117232431	NM_000492.3:c.2210C>T	NP_000483.3:p.Ser737Phe	NC_000007.13:g.117232431C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2215delG (p.Val739Tyrfs)	1080	CFTR	Pathogenic	397508353	RCV000056361;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232436	117232436	NM_000492.3:c.2215delG	NP_000483.3:p.Val739Tyrfs	NC_000007.13:g.117232436delG	CFTR2:2347delG	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2233G>T (p.Gly745Ter)	1080	CFTR	not provided	397508354	RCV000046557;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232454	117232454	NM_000492.3:c.2233G>T	NP_000483.3:p.Gly745Ter	NC_000007.13:g.117232454G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2240_2247delCGATACTG (p.Ile748Serfs)	1080	CFTR	not provided	397508355	RCV000046559;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232461	117232468	NM_000492.3:c.2240_2247delCGATACTG	NP_000483.3:p.Ile748Serfs	NC_000007.13:g.117232461_117232468delCGATACTG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2248_2255delCCTCGCAT (p.Pro750Glnfs)	1080	CFTR	not provided	397508356	RCV000046560;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232469	117232476	NM_000492.3:c.2248_2255delCCTCGCAT	NP_000483.3:p.Pro750Glnfs	NC_000007.13:g.117232469_117232476delCCTCGCAT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu)	1080	CFTR	Uncertain significance	140455771	RCV000046561; RCV000078984;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117232470	117232470	NM_000492.3:c.2249C>T	NP_000483.3:p.Pro750Leu	NC_000007.13:g.117232470C>T	HGMD:CM000667	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.2252G>C (p.Arg751Pro)	1080	CFTR	not provided	397508357	RCV000046563;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232473	117232473	NM_000492.3:c.2252G>C	NP_000483.3:p.Arg751Pro	NC_000007.13:g.117232473G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2259C>G (p.Ser753Arg)	1080	CFTR	not provided	201888075	RCV000046564;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232480	117232480	NM_000492.3:c.2259C>G	NP_000483.3:p.Ser753Arg	NC_000007.13:g.117232480C>G,NC_000007.13:g.117232480C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2259C>T (p.Ser753=)	1080	CFTR	not provided	201888075	RCV000046565;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232480	117232480	NM_000492.3:c.2259C>T	NP_000483.3:p.Ser753=	NC_000007.13:g.117232480C>G,NC_000007.13:g.117232480C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2260G>A (p.Val754Met)	1080	CFTR	not provided	150157202	RCV000046566;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232481	117232481	NM_000492.3:c.2260G>A	NP_000483.3:p.Val754Met	NC_000007.13:g.117232481G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2276_2277delCC (p.Pro759Hisfs)	1080	CFTR	not provided	397508358	RCV000046567;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232497	117232498	NM_000492.3:c.2276_2277delCC	NP_000483.3:p.Pro759Hisfs	NC_000007.13:g.117232497_117232498delCC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2279C>T (p.Thr760Met)	1080	CFTR	not provided	397508359	RCV000046568;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232500	117232500	NM_000492.3:c.2279C>T	NP_000483.3:p.Thr760Met	NC_000007.13:g.117232500C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2286G>T (p.Gln762His)	1080	CFTR	not provided	397508361	RCV000046570;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232507	117232507	NM_000492.3:c.2286G>T	NP_000483.3:p.Gln762His	NC_000007.13:g.117232507G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2290C>T (p.Arg764Ter)	1080	CFTR	Pathogenic	121908810	RCV000056363;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232511	117232511	NM_000492.3:c.2290C>T	NP_000483.3:p.Arg764Ter	NC_000007.13:g.117232511C>T	CFTR2:R764X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2291delG (p.Arg764Glnfs)	1080	CFTR	Pathogenic	387906376	RCV000007641;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232512	117232512	NM_000492.3:c.2291delG	NP_000483.3:p.Arg764Glnfs	NC_000007.13:g.117232512delG	OMIM Allelic Variant:602421.0116	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2297G>T (p.Arg766Met)	1080	CFTR	not provided	397508363	RCV000046574;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232518	117232518	NM_000492.3:c.2297G>T	NP_000483.3:p.Arg766Met	NC_000007.13:g.117232518G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2324_2325delAC (p.His775Leufs)	1080	CFTR	not provided	397508364	RCV000046575;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232545	117232546	NM_000492.3:c.2324_2325delAC	NP_000483.3:p.His775Leufs	NC_000007.13:g.117232545_117232546delAC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2327C>G (p.Ser776Ter)	1080	CFTR	not provided	397508365	RCV000046576;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232548	117232548	NM_000492.3:c.2327C>G	NP_000483.3:p.Ser776Ter	NC_000007.13:g.117232548C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2341C>T (p.Gln781Ter)	1080	CFTR	not provided	397508368	RCV000046580;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232562	117232562	NM_000492.3:c.2341C>T	NP_000483.3:p.Gln781Ter	NC_000007.13:g.117232562C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2346C>A (p.Asn782Lys)	1080	CFTR	not provided	397508369	RCV000046581;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232567	117232567	NM_000492.3:c.2346C>A	NP_000483.3:p.Asn782Lys	NC_000007.13:g.117232567C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2353C>T (p.Arg785Ter)	1080	CFTR	Pathogenic	374946172	RCV000046582;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232574	117232574	NM_000492.3:c.2353C>T	NP_000483.3:p.Arg785Ter	NC_000007.13:g.117232574C>T	CFTR2:174	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly)	1080	CFTR	Uncertain significance	145449046	RCV000046585;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232595	117232595	NM_000492.3:c.2374C>G	NP_000483.3:p.Arg792Gly	NC_000007.13:g.117232595C>G,NC_000007.13:g.117232595C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2374C>T (p.Arg792Ter)	1080	CFTR	Pathogenic	145449046	RCV000046586;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232595	117232595	NM_000492.3:c.2374C>T	NP_000483.3:p.Arg792Ter	NC_000007.13:g.117232595C>G,NC_000007.13:g.117232595C>T	CFTR2:186	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2391dupC (p.Gln799Serfs)	1080	CFTR	not provided	397508372	RCV000046587;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232612	117232612	NM_000492.3:c.2391dupC	NP_000483.3:p.Gln799Serfs	NC_000007.13:g.117232612dupC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser)	1080	CFTR	Uncertain significance	138069616	RCV000029496;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232613	117232613	NM_000492.3:c.2392C>T	NP_000483.3:p.Pro798Ser	NC_000007.13:g.117232613C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2399C>G (p.Ala800Gly)	1080	CFTR	not provided	397508373	RCV000046588;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232620	117232620	NM_000492.3:c.2399C>G	NP_000483.3:p.Ala800Gly	NC_000007.13:g.117232620C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2411A>T (p.Glu804Val)	1080	CFTR	not provided	397508374	RCV000046589;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232632	117232632	NM_000492.3:c.2411A>T	NP_000483.3:p.Glu804Val	NC_000007.13:g.117232632A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2417A>G (p.Asp806Gly)	1080	CFTR	not provided	397508375	RCV000046590;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232638	117232638	NM_000492.3:c.2417A>G	NP_000483.3:p.Asp806Gly	NC_000007.13:g.117232638A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met)	1080	CFTR	Uncertain significance	1800103	RCV000197986; RCV000029497;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0238339,OMIM:167800,SNOMED CT:68072000	7	117232642	117232642	NM_000492.3:c.2421A>G	NP_000483.3:p.Ile807Met	NC_000007.13:g.117232642A>G	-	C0010674 219700 Cystic fibrosis; C0238339 167800 Hereditary pancreatitis
NM_000492.3(CFTR):c.2423_2424dupAT (p.Ser809Ilefs)	1080	CFTR	Pathogenic	387906359	RCV000190991;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232644	117232645	NM_000492.3:c.2423_2424dupAT	NP_000483.3:p.Ser809Ilefs	NC_000007.13:g.117232644_117232645dupAT	CFTR2:212,OMIM Allelic Variant:602421.0019	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2428A>G (p.Arg810Gly)	1080	CFTR	not provided	377447726	RCV000046591;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232649	117232649	NM_000492.3:c.2428A>G	NP_000483.3:p.Arg810Gly	NC_000007.13:g.117232649A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2435dupT (p.Leu812Phefs)	1080	CFTR	not provided	397508376	RCV000046592;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232656	117232656	NM_000492.3:c.2435dupT	NP_000483.3:p.Leu812Phefs	NC_000007.13:g.117232656dupT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2440C>T (p.Gln814Ter)	1080	CFTR	not provided	397508377	RCV000046593;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232661	117232661	NM_000492.3:c.2440C>T	NP_000483.3:p.Gln814Ter	NC_000007.13:g.117232661C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2443G>T (p.Glu815Ter)	1080	CFTR	Pathogenic	672601316	RCV000149424;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232664	117232664	NM_000492.3:c.2443G>T	NP_000483.3:p.Glu815Ter	NC_000007.13:g.117232664G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2453delT (p.Leu818Trpfs)	1080	CFTR	Pathogenic	397515498	RCV000056364;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232674	117232674	NM_000492.3:c.2453delT	NP_000483.3:p.Leu818Trpfs	NC_000007.13:g.117232674delT	CFTR2:2585delT	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2462_2463delGT (p.Ser821Argfs)	1080	CFTR	Pathogenic	797045156	RCV000190989;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232683	117232684	NM_000492.3:c.2462_2463delGT	NP_000483.3:p.Ser821Argfs	NC_000007.13:g.117232683_117232684delGT	CFTR2:172	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2464G>A (p.Glu822Lys)	1080	CFTR	not provided	397508378	RCV000046594;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232685	117232685	NM_000492.3:c.2464G>A	NP_000483.3:p.Glu822Lys	NC_000007.13:g.117232685G>A,NC_000007.13:g.117232685G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2464G>T (p.Glu822Ter)	1080	CFTR	Pathogenic	397508378	RCV000056365;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232685	117232685	NM_000492.3:c.2464G>T	NP_000483.3:p.Glu822Ter	NC_000007.13:g.117232685G>A,NC_000007.13:g.117232685G>T	CFTR2:E822X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2467G>T (p.Glu823Ter)	1080	CFTR	not provided	397508379	RCV000046596;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232688	117232688	NM_000492.3:c.2467G>T	NP_000483.3:p.Glu823Ter	NC_000007.13:g.117232688G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2472delT (p.Asn825Thrfs)	1080	CFTR	not provided	397508380	RCV000046597;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232693	117232693	NM_000492.3:c.2472delT	NP_000483.3:p.Asn825Thrfs	NC_000007.13:g.117232693delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2476G>A (p.Glu826Lys)	1080	CFTR	not provided	397508381	RCV000046598;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232697	117232697	NM_000492.3:c.2476G>A	NP_000483.3:p.Glu826Lys	NC_000007.13:g.117232697G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2479G>T (p.Glu827Ter)	1080	CFTR	Pathogenic	121909018	RCV000007577;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232700	117232700	NM_000492.3:c.2479G>T	NP_000483.3:p.Glu827Ter	NC_000007.13:g.117232700G>T	OMIM Allelic Variant:602421.0053	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2488A>T (p.Lys830Ter)	1080	CFTR	not provided	397508382	RCV000046600;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232709	117232709	NM_000492.3:c.2488A>T	NP_000483.3:p.Lys830Ter	NC_000007.13:g.117232709A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2490+1G>A	1080	CFTR	Pathogenic	141158996	RCV000007595;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232712	117232712	NM_000492.3:c.2490+1G>A		NC_000007.13:g.117232712G>A	CFTR2:2622+1G->A,OMIM Allelic Variant:602421.0071	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2490+2_2490+7delTAGGTA	1080	CFTR	not provided	397508383	RCV000046602;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117232713	117232718	NM_000492.3:c.2490+2_2490+7delTAGGTA		NC_000007.13:g.117232713_117232718delTAGGTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2491-23A>G	1080	CFTR	not provided	397508385	RCV000046604;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117234961	117234961	NM_000492.3:c.2491-23A>G		NC_000007.13:g.117234961A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2491-11C>T	1080	CFTR	not provided	397508384	RCV000046603;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117234973	117234973	NM_000492.3:c.2491-11C>T		NC_000007.13:g.117234973C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2491-2A>G	1080	CFTR	not provided	397508386	RCV000046605;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117234982	117234982	NM_000492.3:c.2491-2A>G		NC_000007.13:g.117234982A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2491G>T (p.Glu831Ter)	1080	CFTR	Pathogenic	397508387	RCV000056366;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117234984	117234984	NM_000492.3:c.2491G>T	NP_000483.3:p.Glu831Ter	NC_000007.13:g.117234984G>T	CFTR2:E831X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2496C>A (p.Cys832Ter)	1080	CFTR	not provided	397508388	RCV000046607;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117234989	117234989	NM_000492.3:c.2496C>A	NP_000483.3:p.Cys832Ter	NC_000007.13:g.117234989C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2502dupT (p.Asp835Terfs)	1080	CFTR	not provided	397508389	RCV000046608;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117234995	117234995	NM_000492.3:c.2502dupT	NP_000483.3:p.Asp835Terfs	NC_000007.13:g.117234995dupT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2502delT (p.Phe834Leufs)	1080	CFTR	not provided	397508390	RCV000046609;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117234995	117234995	NM_000492.3:c.2502delT	NP_000483.3:p.Phe834Leufs	NC_000007.13:g.117234995delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr)	1080	CFTR	not provided	201386642	RCV000046610;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117234999	117234999	NM_000492.3:c.2506G>T	NP_000483.3:p.Asp836Tyr	NC_000007.13:g.117234999G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2508delT (p.Asp836Glufs)	1080	CFTR	not provided	397508391	RCV000046611;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235001	117235001	NM_000492.3:c.2508delT	NP_000483.3:p.Asp836Glufs	NC_000007.13:g.117235001delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2522C>G (p.Pro841Arg)	1080	CFTR	not provided	397508392	RCV000046612;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235015	117235015	NM_000492.3:c.2522C>G	NP_000483.3:p.Pro841Arg	NC_000007.13:g.117235015C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2537G>A (p.Trp846Ter)	1080	CFTR	Pathogenic	397508393	RCV000056367;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235030	117235030	NM_000492.3:c.2537G>A	NP_000483.3:p.Trp846Ter	NC_000007.13:g.117235030G>A	CFTR2:W846X_68176	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2538G>A (p.Trp846Ter)	1080	CFTR	Pathogenic	267606722	RCV000007547;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235031	117235031	NM_000492.3:c.2538G>A	NP_000483.3:p.Trp846Ter	NC_000007.13:g.117235031G>A	CFTR2:W846X_22166,OMIM Allelic Variant:602421.0026	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2547C>A (p.Tyr849Ter)	1080	CFTR	Pathogenic	397508394	RCV000046615;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235040	117235040	NM_000492.3:c.2547C>A	NP_000483.3:p.Tyr849Ter	NC_000007.13:g.117235040C>A	CFTR2:206	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2551C>T (p.Arg851Ter)	1080	CFTR	Pathogenic	121909012	RCV000007561;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235044	117235044	NM_000492.3:c.2551C>T	NP_000483.3:p.Arg851Ter	NC_000007.13:g.117235044C>T	CFTR2:R851X,OMIM Allelic Variant:602421.0036	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2552G>T (p.Arg851Leu)	1080	CFTR	not provided	397508395	RCV000046619;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235045	117235045	NM_000492.3:c.2552G>T	NP_000483.3:p.Arg851Leu	NC_000007.13:g.117235045G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2562delT (p.Val855Serfs)	1080	CFTR	not provided	397508396	RCV000046620;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235055	117235055	NM_000492.3:c.2562delT	NP_000483.3:p.Val855Serfs	NC_000007.13:g.117235055delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2563G>A (p.Val855Ile)	1080	CFTR	not provided	397508397	RCV000046621;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235056	117235056	NM_000492.3:c.2563G>A	NP_000483.3:p.Val855Ile	NC_000007.13:g.117235056G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2571G>A (p.Lys857=)	1080	CFTR	not provided	397508398	RCV000046622;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235064	117235064	NM_000492.3:c.2571G>A	NP_000483.3:p.Lys857=	NC_000007.13:g.117235064G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2583delT (p.Phe861Leufs)	1080	CFTR	Pathogenic	397508399	RCV000056368;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235076	117235076	NM_000492.3:c.2583delT	NP_000483.3:p.Phe861Leufs	NC_000007.13:g.117235076delT	CFTR2:2711delT	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2589_2599delAATTTGGTGCT (p.Ile864Serfs)	1080	CFTR	Pathogenic	397508400	RCV000046624;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235082	117235092	NM_000492.3:c.2589_2599delAATTTGGTGCT	NP_000483.3:p.Ile864Serfs	NC_000007.13:g.117235082_117235092delAATTTGGTGCT	CFTR2:254	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2591_2592delTT (p.Ile864Metfs)	1080	CFTR	not provided	397508401	RCV000046625;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235084	117235085	NM_000492.3:c.2591_2592delTT	NP_000483.3:p.Ile864Metfs	NC_000007.13:g.117235084_117235085delTT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2596T>C (p.Cys866Arg)	1080	CFTR	not provided	397508402	RCV000046626;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235089	117235089	NM_000492.3:c.2596T>C	NP_000483.3:p.Cys866Arg	NC_000007.13:g.117235089T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2597G>A (p.Cys866Tyr)	1080	CFTR	Uncertain significance	193922506	RCV000029498;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235090	117235090	NM_000492.3:c.2597G>A	NP_000483.3:p.Cys866Tyr	NC_000007.13:g.117235090G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2600T>A (p.Leu867Ter)	1080	CFTR	not provided	397508404	RCV000046630;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235093	117235093	NM_000492.3:c.2600T>A	NP_000483.3:p.Leu867Ter	NC_000007.13:g.117235093T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2601dupA (p.Val868Serfs)	1080	CFTR	Pathogenic	397508405	RCV000046631;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235094	117235094	NM_000492.3:c.2601dupA	NP_000483.3:p.Val868Serfs	NC_000007.13:g.117235094dupA	CFTR2:269	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2602delG (p.Val868Terfs)	1080	CFTR	not provided	397508406	RCV000046632;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235095	117235095	NM_000492.3:c.2602delG	NP_000483.3:p.Val868Terfs	NC_000007.13:g.117235095delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2619G>A (p.Glu873=)	1080	CFTR	not provided	397508409	RCV000046635;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235112	117235112	NM_000492.3:c.2619G>A	NP_000483.3:p.Glu873=	NC_000007.13:g.117235112G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2619+2T>A	1080	CFTR	not provided	397508407	RCV000046633;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235114	117235114	NM_000492.3:c.2619+2T>A		NC_000007.13:g.117235114T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2619+3A>G	1080	CFTR	not provided	397508408	RCV000046634;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117235115	117235115	NM_000492.3:c.2619+3A>G		NC_000007.13:g.117235115A>G	-	C0010674 219700 Cystic fibrosis
NG_016465.4:g.141369_151223del9855	1080	CFTR	not provided	-1	RCV000043701;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242206	117252060	-	-		-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2620-26A>G	1080	CFTR	not provided	201716473	RCV000046638;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242854	117242854	NM_000492.3:c.2620-26A>G		NC_000007.13:g.117242854A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2620-15C>G	1080	CFTR	Uncertain significance	139379077	RCV000029499;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242865	117242865	NM_000492.3:c.2620-15C>G		NC_000007.13:g.117242865C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2620-6T>C	1080	CFTR	not provided	371315682	RCV000046639;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242874	117242874	NM_000492.3:c.2620-6T>C		NC_000007.13:g.117242874T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2620-1G>C	1080	CFTR	not provided	397508410	RCV000046636;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242879	117242879	NM_000492.3:c.2620-1G>C		NC_000007.13:g.117242879G>C,NC_000007.13:g.117242879G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2620-1G>T	1080	CFTR	not provided	397508410	RCV000046637;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242879	117242879	NM_000492.3:c.2620-1G>T		NC_000007.13:g.117242879G>C,NC_000007.13:g.117242879G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2634_2641delGGTTGTGC (p.Leu878Phefs)	1080	CFTR	not provided	397508411	RCV000046641;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242894	117242901	NM_000492.3:c.2634_2641delGGTTGTGC	NP_000483.3:p.Leu878Phefs	NC_000007.13:g.117242894_117242901delGGTTGTGC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2645G>A (p.Trp882Ter)	1080	CFTR	not provided	397508413	RCV000046645;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242905	117242905	NM_000492.3:c.2645G>A	NP_000483.3:p.Trp882Ter	NC_000007.13:g.117242905G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2657+2_2657+3insA	1080	CFTR	Pathogenic	397508414	RCV000046646; RCV000078986;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117242919	117242920	NM_000492.3:c.2657+2_2657+3insA		NC_000007.13:g.117242919_117242920insA	HGMD:CI983616	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.2657+3delG	1080	CFTR	not provided	397508415	RCV000046647;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242920	117242920	NM_000492.3:c.2657+3delG		NC_000007.13:g.117242920delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2657+5G>A	1080	CFTR	Pathogenic	80224560	RCV000043564;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117242922	117242922	NM_000492.3:c.2657+5G>A		NC_000007.13:g.117242922G>A	CFTR2:2789+5G->A	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2658-107G>C	1080	CFTR	not provided	149587528	RCV000046649;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243479	117243479	NM_000492.3:c.2658-107G>C		NC_000007.13:g.117243479G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2658-1G>T	1080	CFTR	not provided	397508416	RCV000046650;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243585	117243585	NM_000492.3:c.2658-1G>T		NC_000007.13:g.117243585G>C,NC_000007.13:g.117243585G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2658-1G>C	1080	CFTR	Pathogenic	397508416	RCV000190990;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243585	117243585	NM_000492.3:c.2658-1G>C		NC_000007.13:g.117243585G>C,NC_000007.13:g.117243585G>T	CFTR2:209	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2668C>T (p.Gln890Ter)	1080	CFTR	Pathogenic	79633941	RCV000007625;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243596	117243596	NM_000492.3:c.2668C>T	NP_000483.3:p.Gln890Ter	NC_000007.13:g.117243596C>T	CFTR2:Q890X,OMIM Allelic Variant:602421.0099	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2669A>G (p.Gln890Arg)	1080	CFTR	not provided	397508417	RCV000046652;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243597	117243597	NM_000492.3:c.2669A>G	NP_000483.3:p.Gln890Arg	NC_000007.13:g.117243597A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2679G>T (p.Gly893=)	1080	CFTR	not provided	397508419	RCV000046654;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243607	117243607	NM_000492.3:c.2679G>T	NP_000483.3:p.Gly893=	NC_000007.13:g.117243607G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2684G>A (p.Ser895Asn)	1080	CFTR	not provided	201864483	RCV000046655;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243612	117243612	NM_000492.3:c.2684G>A	NP_000483.3:p.Ser895Asn	NC_000007.13:g.117243612G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2687_2690delCTCAinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer)	1080	CFTR	not provided	397508420	RCV000046656;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243615	117243618	NM_000492.3:c.2687_2690delCTCAinsTGAGTACTATGAG	NP_000483.3:p.Thr896_His897delinsMetSerThrMetSer	NC_000007.13:g.117243615_117243618delCTCAinsTGAGTACTATGAG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2700T>A (p.Asn900Lys)	1080	CFTR	Pathogenic	672601315	RCV000149422;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243628	117243628	NM_000492.3:c.2700T>A	NP_000483.3:p.Asn900Lys	NC_000007.13:g.117243628T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2706C>G (p.Ser902Arg)	1080	CFTR	not provided	397508422	RCV000046658;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243634	117243634	NM_000492.3:c.2706C>G	NP_000483.3:p.Ser902Arg	NC_000007.13:g.117243634C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2719A>G (p.Ile907Val)	1080	CFTR	not provided	397508423	RCV000046659;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243647	117243647	NM_000492.3:c.2719A>G	NP_000483.3:p.Ile907Val	NC_000007.13:g.117243647A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2723C>A (p.Thr908Asn)	1080	CFTR	not provided	369521395	RCV000046661;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243651	117243651	NM_000492.3:c.2723C>A	NP_000483.3:p.Thr908Asn	NC_000007.13:g.117243651C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu)	1080	CFTR	Benign;Pathogenic	121909034	RCV000007626; RCV000007661;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243663	117243663	NM_000492.3:c.2735C>T	NP_000483.3:p.Ser912Leu	NC_000007.13:g.117243663C>A,NC_000007.13:g.117243663C>T	OMIM Allelic Variant:602421.0100,OMIM Allelic Variant:602421.0135	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu)	1080	CFTR	Benign;Pathogenic	121909034	RCV000007626; RCV000007661;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243663	117243663	NM_000492.3:c.2735C>T	NP_000483.3:p.Ser912Leu	NC_000007.13:g.117243663C>A,NC_000007.13:g.117243663C>T	OMIM Allelic Variant:602421.0100,OMIM Allelic Variant:602421.0135	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2735C>A (p.Ser912Ter)	1080	CFTR	Pathogenic	121909034	RCV000046665;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243663	117243663	NM_000492.3:c.2735C>A	NP_000483.3:p.Ser912Ter	NC_000007.13:g.117243663C>A,NC_000007.13:g.117243663C>T	CFTR2:187	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2736dupG (p.Tyr913Valfs)	1080	CFTR	not provided	397508424	RCV000046667;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243664	117243664	NM_000492.3:c.2736dupG	NP_000483.3:p.Tyr913Valfs	NC_000007.13:g.117243664dupG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2737_2738insG (p.Tyr913Terfs)	1080	CFTR	Pathogenic	121908788	RCV000007569;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243665	117243666	NM_000492.3:c.2737_2738insG	NP_000483.3:p.Tyr913Terfs	NC_000007.13:g.117243665_117243666insG	CFTR2:195,OMIM Allelic Variant:602421.0045	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2738A>G (p.Tyr913Cys)	1080	CFTR	Pathogenic	121909008	RCV000007548;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243666	117243666	NM_000492.3:c.2738A>G	NP_000483.3:p.Tyr913Cys	NC_000007.13:g.117243666A>G	OMIM Allelic Variant:602421.0027	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2739T>A (p.Tyr913Ter)	1080	CFTR	Pathogenic	149790377	RCV000046670;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243667	117243667	NM_000492.3:c.2739T>A	NP_000483.3:p.Tyr913Ter	NC_000007.13:g.117243667T>A	CFTR2:216	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2749T>G (p.Tyr917Asp)	1080	CFTR	not provided	397508427	RCV000046676;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243677	117243677	NM_000492.3:c.2749T>G	NP_000483.3:p.Tyr917Asp	NC_000007.13:g.117243677T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2750A>G (p.Tyr917Cys)	1080	CFTR	not provided	397508428	RCV000046679;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243678	117243678	NM_000492.3:c.2750A>G	NP_000483.3:p.Tyr917Cys	NC_000007.13:g.117243678A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2754T>G (p.Ile918Met)	1080	CFTR	not provided	397508429	RCV000046680;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243682	117243682	NM_000492.3:c.2754T>G	NP_000483.3:p.Ile918Met	NC_000007.13:g.117243682T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys)	1080	CFTR	not provided	397508430	RCV000046681;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243684	117243684	NM_000492.3:c.2756A>G	NP_000483.3:p.Tyr919Cys	NC_000007.13:g.117243684A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2758G>A (p.Val920Met)	1080	CFTR	not provided	373885282	RCV000046682;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243686	117243686	NM_000492.3:c.2758G>A	NP_000483.3:p.Val920Met	NC_000007.13:g.117243686G>A,NC_000007.13:g.117243686G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2758G>T (p.Val920Leu)	1080	CFTR	not provided	373885282	RCV000046683;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243686	117243686	NM_000492.3:c.2758G>T	NP_000483.3:p.Val920Leu	NC_000007.13:g.117243686G>A,NC_000007.13:g.117243686G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2762G>A (p.Gly921Glu)	1080	CFTR	Uncertain significance	193922508	RCV000029502;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243690	117243690	NM_000492.3:c.2762G>A	NP_000483.3:p.Gly921Glu	NC_000007.13:g.117243690G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2763_2764dupAG (p.Val922Glufs)	1080	CFTR	Pathogenic	397508431	RCV000046684;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243691	117243692	NM_000492.3:c.2763_2764dupAG	NP_000483.3:p.Val922Glufs	NC_000007.13:g.117243691_117243692dupAG	CFTR2:196	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2768C>A (p.Ala923Asp)	1080	CFTR	Likely pathogenic	193922509	RCV000029503;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243696	117243696	NM_000492.3:c.2768C>A	NP_000483.3:p.Ala923Asp	NC_000007.13:g.117243696C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn)	1080	CFTR	not provided	201759207	RCV000046686;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243698	117243698	NM_000492.3:c.2770G>A	NP_000483.3:p.Asp924Asn	NC_000007.13:g.117243698G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2775_2776delTT (p.Leu926Alafs)	1080	CFTR	not provided	397508433	RCV000046687;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243703	117243704	NM_000492.3:c.2775_2776delTT	NP_000483.3:p.Leu926Alafs	NC_000007.13:g.117243703_117243704delTT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2777delT (p.Leu926Cysfs)	1080	CFTR	not provided	397508434	RCV000046688;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243705	117243705	NM_000492.3:c.2777delT	NP_000483.3:p.Leu926Cysfs	NC_000007.13:g.117243705delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2780T>C (p.Leu927Pro)	1080	CFTR	Pathogenic	397508435	RCV000056371;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243708	117243708	NM_000492.3:c.2780T>C	NP_000483.3:p.Leu927Pro	NC_000007.13:g.117243708T>C	CFTR2:L927P	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly)	1080	CFTR	not provided	397508436	RCV000046690;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243725	117243725	NM_000492.3:c.2797A>G	NP_000483.3:p.Arg933Gly	NC_000007.13:g.117243725A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2799A>T (p.Arg933Ser)	1080	CFTR	not provided	397508437	RCV000046691;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243727	117243727	NM_000492.3:c.2799A>T	NP_000483.3:p.Arg933Ser	NC_000007.13:g.117243727A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2808A>G (p.Pro936=)	1080	CFTR	not provided	397508438	RCV000046692;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243736	117243736	NM_000492.3:c.2808A>G	NP_000483.3:p.Pro936=	NC_000007.13:g.117243736A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2810dupT (p.Val938Glyfs)	1080	CFTR	Pathogenic	193922510	RCV000029504;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243738	117243738	NM_000492.3:c.2810dupT	NP_000483.3:p.Val938Glyfs	NC_000007.13:g.117243738dupT	CFTR2:249	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly)	1080	CFTR	Pathogenic	193922511	RCV000046693; RCV000029505;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48	7	117243741	117243741	NM_000492.3:c.2813T>G	NP_000483.3:p.Val938Gly	NC_000007.13:g.117243741T>G	-	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2815C>G (p.His939Asp)	1080	CFTR	not provided	397508439	RCV000046694;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243743	117243743	NM_000492.3:c.2815C>G	NP_000483.3:p.His939Asp	NC_000007.13:g.117243743C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2816A>G (p.His939Arg)	1080	CFTR	not provided	397508440	RCV000046695;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243744	117243744	NM_000492.3:c.2816A>G	NP_000483.3:p.His939Arg	NC_000007.13:g.117243744A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2825delT (p.Ile942Thrfs)	1080	CFTR	Pathogenic	397508441	RCV000046696;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243753	117243753	NM_000492.3:c.2825delT	NP_000483.3:p.Ile942Thrfs	NC_000007.13:g.117243753delT	CFTR2:252	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2832G>A (p.Val944=)	1080	CFTR	Likely benign	193922512	RCV000029506;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243760	117243760	NM_000492.3:c.2832G>A	NP_000483.3:p.Val944=	NC_000007.13:g.117243760G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2834C>T (p.Ser945Leu)	1080	CFTR	Pathogenic	397508442	RCV000056372;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243762	117243762	NM_000492.3:c.2834C>T	NP_000483.3:p.Ser945Leu	NC_000007.13:g.117243762C>T	CFTR2:S945L	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2835G>A (p.Ser945=)	1080	CFTR	Likely benign	193922513	RCV000029507;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243763	117243763	NM_000492.3:c.2835G>A	NP_000483.3:p.Ser945=	NC_000007.13:g.117243763G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2836A>T (p.Lys946Ter)	1080	CFTR	not provided	397508443	RCV000046698;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243764	117243764	NM_000492.3:c.2836A>T	NP_000483.3:p.Lys946Ter	NC_000007.13:g.117243764A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2845C>T (p.His949Tyr)	1080	CFTR	Pathogenic	121909035	RCV000007628;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243773	117243773	NM_000492.3:c.2845C>T	NP_000483.3:p.His949Tyr	NC_000007.13:g.117243773C>T	OMIM Allelic Variant:602421.0102	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2846A>G (p.His949Arg)	1080	CFTR	not provided	397508444	RCV000046700;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243774	117243774	NM_000492.3:c.2846A>G	NP_000483.3:p.His949Arg	NC_000007.13:g.117243774A>G,NC_000007.13:g.117243774A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2846A>T (p.His949Leu)	1080	CFTR	not provided	397508444	RCV000046701;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243774	117243774	NM_000492.3:c.2846A>T	NP_000483.3:p.His949Leu	NC_000007.13:g.117243774A>G,NC_000007.13:g.117243774A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr)	1080	CFTR	not provided	142773283	RCV000046702;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243783	117243783	NM_000492.3:c.2855T>C	NP_000483.3:p.Met952Thr	NC_000007.13:g.117243783T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile)	1080	CFTR	not provided	151048781	RCV000046703;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243784	117243784	NM_000492.3:c.2856G>C	NP_000483.3:p.Met952Ile	NC_000007.13:g.117243784G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2859_2890del32 (p.Leu953Phefs)	1080	CFTR	Pathogenic	397508445	RCV000046704;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243787	117243818	NM_000492.3:c.2859_2890del32	NP_000483.3:p.Leu953Phefs	NC_000007.13:g.117243787_117243818del32	CFTR2:240	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2861A>C (p.His954Pro)	1080	CFTR	not provided	397508446	RCV000046705;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243789	117243789	NM_000492.3:c.2861A>C	NP_000483.3:p.His954Pro	NC_000007.13:g.117243789A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2875delG (p.Ala959Hisfs)	1080	CFTR	Pathogenic	397508447	RCV000056373;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243803	117243803	NM_000492.3:c.2875delG	NP_000483.3:p.Ala959Hisfs	NC_000007.13:g.117243803delG	CFTR2:3007delG	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2876C>T (p.Ala959Val)	1080	CFTR	not provided	397508448	RCV000046707;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243804	117243804	NM_000492.3:c.2876C>T	NP_000483.3:p.Ala959Val	NC_000007.13:g.117243804C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2883G>T (p.Met961Ile)	1080	CFTR	not provided	397508450	RCV000046709;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243811	117243811	NM_000492.3:c.2883G>T	NP_000483.3:p.Met961Ile	NC_000007.13:g.117243811G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2896delA (p.Thr966Argfs)	1080	CFTR	Pathogenic	397508451	RCV000046710;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243824	117243824	NM_000492.3:c.2896delA	NP_000483.3:p.Thr966Argfs	NC_000007.13:g.117243824delA	CFTR2:278	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2898G>A (p.Thr966=)	1080	CFTR	Benign;Likely benign	1800109	RCV000029508; RCV000152996;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117243826	117243826	NM_000492.3:c.2898G>A	NP_000483.3:p.Thr966=	NC_000007.13:g.117243826G>A	-	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser)	1080	CFTR	Uncertain significance	1800110	RCV000206091;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243828	117243828	NM_000492.3:c.2900T>C	NP_000483.3:p.Leu967Ser	NC_000007.13:g.117243828T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2908G>A (p.Gly970Ser)	1080	CFTR	not provided	397508453	RCV000046712;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243836	117243836	NM_000492.3:c.2908G>A	NP_000483.3:p.Gly970Ser	NC_000007.13:g.117243836G>A,NC_000007.13:g.117243836G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2908G>C (p.Gly970Arg)	1080	CFTR	Pathogenic	397508453	RCV000056374;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243836	117243836	NM_000492.3:c.2908G>C	NP_000483.3:p.Gly970Arg	NC_000007.13:g.117243836G>A,NC_000007.13:g.117243836G>C	CFTR2:G970R	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2908+2T>C	1080	CFTR	not provided	397508452	RCV000046711;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117243838	117243838	NM_000492.3:c.2908+2T>C		NC_000007.13:g.117243838T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2909-15T>G	1080	CFTR	not provided	397508455	RCV000046715;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246713	117246713	NM_000492.3:c.2909-15T>G		NC_000007.13:g.117246713T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2909-11_2909-5del7	1080	CFTR	not provided	397508454	RCV000046714;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246717	117246723	NM_000492.3:c.2909-11_2909-5del7		NC_000007.13:g.117246717_117246723delGTATATT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2909-4A>G	1080	CFTR	not provided	397508457	RCV000046717;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246724	117246724	NM_000492.3:c.2909-4A>G		NC_000007.13:g.117246724A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2909-1G>A	1080	CFTR	not provided	397508456	RCV000046716;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246727	117246727	NM_000492.3:c.2909-1G>A		NC_000007.13:g.117246727G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2909G>A (p.Gly970Asp)	1080	CFTR	Likely pathogenic	386134230	RCV000046718;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246728	117246728	NM_000492.3:c.2909G>A	NP_000483.3:p.Gly970Asp	NC_000007.13:g.117246728G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2909delG (p.Gly970Valfs)	1080	CFTR	not provided	397508458	RCV000046719;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246728	117246728	NM_000492.3:c.2909delG	NP_000483.3:p.Gly970Valfs	NC_000007.13:g.117246728delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2916_2917delTCinsAT (p.Leu973Phe)	1080	CFTR	not provided	397508459	RCV000046720;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246735	117246736	NM_000492.3:c.2916_2917delTCinsAT	NP_000483.3:p.Leu973Phe	NC_000007.13:g.117246735_117246736delTCinsAT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2918T>A (p.Leu973His)	1080	CFTR	not provided	397508460	RCV000046721;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246737	117246737	NM_000492.3:c.2918T>A	NP_000483.3:p.Leu973His	NC_000007.13:g.117246737T>A,NC_000007.13:g.117246737T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2918T>C (p.Leu973Pro)	1080	CFTR	not provided	397508460	RCV000046722;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246737	117246737	NM_000492.3:c.2918T>C	NP_000483.3:p.Leu973Pro	NC_000007.13:g.117246737T>A,NC_000007.13:g.117246737T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2929T>C (p.Ser977Pro)	1080	CFTR	not provided	137975784	RCV000046723;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246748	117246748	NM_000492.3:c.2929T>C	NP_000483.3:p.Ser977Pro	NC_000007.13:g.117246748T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe)	1080	CFTR	not provided	141033578	RCV000046725;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246749	117246749	NM_000492.3:c.2930C>T	NP_000483.3:p.Ser977Phe	NC_000007.13:g.117246749C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2932A>T (p.Lys978Ter)	1080	CFTR	Likely pathogenic	193922514	RCV000029510;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246751	117246751	NM_000492.3:c.2932A>T	NP_000483.3:p.Lys978Ter	NC_000007.13:g.117246751A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2936A>C (p.Asp979Ala)	1080	CFTR	not provided	397508462	RCV000046727;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246755	117246755	NM_000492.3:c.2936A>C	NP_000483.3:p.Asp979Ala	NC_000007.13:g.117246755A>C,NC_000007.13:g.117246755A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2936A>T (p.Asp979Val)	1080	CFTR	not provided	397508462	RCV000046728;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246755	117246755	NM_000492.3:c.2936A>T	NP_000483.3:p.Asp979Val	NC_000007.13:g.117246755A>C,NC_000007.13:g.117246755A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2939T>A (p.Ile980Lys)	1080	CFTR	not provided	397508463	RCV000046729;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246758	117246758	NM_000492.3:c.2939T>A	NP_000483.3:p.Ile980Lys	NC_000007.13:g.117246758T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2953G>C (p.Asp985His)	1080	CFTR	not provided	397508465	RCV000046732;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246772	117246772	NM_000492.3:c.2953G>C	NP_000483.3:p.Asp985His	NC_000007.13:g.117246772G>C,NC_000007.13:g.117246772G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2953G>T (p.Asp985Tyr)	1080	CFTR	not provided	397508465	RCV000046733;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246772	117246772	NM_000492.3:c.2953G>T	NP_000483.3:p.Asp985Tyr	NC_000007.13:g.117246772G>C,NC_000007.13:g.117246772G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2968dupA (p.Thr990Asnfs)	1080	CFTR	not provided	397508466	RCV000046734;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246787	117246787	NM_000492.3:c.2968dupA	NP_000483.3:p.Thr990Asnfs	NC_000007.13:g.117246787dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2977G>T (p.Asp993Tyr)	1080	CFTR	not provided	397508468	RCV000046736;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246796	117246796	NM_000492.3:c.2977G>T	NP_000483.3:p.Asp993Tyr	NC_000007.13:g.117246796G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys)	1080	CFTR	not provided	397508469	RCV000046737;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117246800	117246800	NM_000492.3:c.2981T>G	NP_000483.3:p.Phe994Cys	NC_000007.13:g.117246800T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2988G>A (p.Gln996=)	1080	CFTR	Pathogenic	121908797	RCV000029512; RCV000078990;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117246807	117246807	NM_000492.3:c.2988G>A	NP_000483.3:p.Gln996=	NC_000007.13:g.117246807G>A	CFTR2:3120G->A,HGMD:CS941443	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.2988+1G>A	1080	CFTR	Pathogenic	75096551	RCV000007645; RCV000078989;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117246808	117246808	NM_000492.3:c.2988+1G>A		NC_000007.13:g.117246808G>A	CFTR2:3120+1G->A,HGMD:CS971653,OMIM Allelic Variant:602421.0120	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.2989-977_3367+248del	1080	CFTR	Pathogenic	-1	RCV000043702;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117249596	117252110	NM_000492.3:c.2989-977_3367+248del			CFTR2:213	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2989-3C>G	1080	CFTR	not provided	397508471	RCV000046743;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250570	117250570	NM_000492.3:c.2989-3C>G		NC_000007.13:g.117250570C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2989-2A>T	1080	CFTR	Likely pathogenic	193922515	RCV000029513;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250571	117250571	NM_000492.3:c.2989-2A>T		NC_000007.13:g.117250571A>G,NC_000007.13:g.117250571A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2989-2A>G	1080	CFTR	Pathogenic	193922515	RCV000046741;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250571	117250571	NM_000492.3:c.2989-2A>G		NC_000007.13:g.117250571A>G,NC_000007.13:g.117250571A>T	CFTR2:253	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2989-1G>A	1080	CFTR	Pathogenic	397508470	RCV000056376;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250572	117250572	NM_000492.3:c.2989-1G>A		NC_000007.13:g.117250572G>A	CFTR2:3121-1G->A	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2989_3139del151 (p.Leu997Alafs)	1080	CFTR	not provided	-1	RCV000046744;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250573	117250723	NM_000492.3:c.2989_3139del151	NP_000483.3:p.Leu997Alafs		-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe)	1080	CFTR	Pathogenic;risk factor	1800111	RCV000046745; RCV000007650; RCV000007651; RCV000175399; RCV000078991;	N	; MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0238339,OMIM:167800,SNOMED CT:68072000; MedGen:CN221809	7	117250575	117250575	NM_000492.3:c.2991G>C	NP_000483.3:p.Leu997Phe	NC_000007.13:g.117250575G>C	HGMD:CM920171,OMIM Allelic Variant:602421.0124	C0010674 219700 Cystic fibrosis; C0238339 167800 Hereditary pancreatitis; CN221809 not provided
NM_000492.3(CFTR):c.2997_3000delAATT (p.Ile1000Terfs)	1080	CFTR	not provided	397508472	RCV000046747;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250581	117250584	NM_000492.3:c.2997_3000delAATT	NP_000483.3:p.Ile1000Terfs	NC_000007.13:g.117250581_117250584delAATT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2998_3019del22 (p.Ile1000Leufs)	1080	CFTR	not provided	397508474	RCV000046748;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250582	117250603	NM_000492.3:c.2998_3019del22	NP_000483.3:p.Ile1000Leufs	NC_000007.13:g.117250582_117250603del22	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.2998delA (p.Ile1000Leufs)	1080	CFTR	not provided	397508475	RCV000046749;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250582	117250582	NM_000492.3:c.2998delA	NP_000483.3:p.Ile1000Leufs	NC_000007.13:g.117250582delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3002_3003delTG (p.Val1001Aspfs)	1080	CFTR	Pathogenic	397508477	RCV000046752;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250586	117250587	NM_000492.3:c.3002_3003delTG	NP_000483.3:p.Val1001Aspfs	NC_000007.13:g.117250586_117250587delTG	CFTR2:197	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3007G>T (p.Gly1003Ter)	1080	CFTR	not provided	397508478	RCV000046753;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250591	117250591	NM_000492.3:c.3007G>T	NP_000483.3:p.Gly1003Ter	NC_000007.13:g.117250591G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3008G>A (p.Gly1003Glu)	1080	CFTR	not provided	55803548	RCV000046754;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250592	117250592	NM_000492.3:c.3008G>A	NP_000483.3:p.Gly1003Glu	NC_000007.13:g.117250592G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3014T>G (p.Ile1005Arg)	1080	CFTR	not provided	397508479	RCV000046755;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250598	117250598	NM_000492.3:c.3014T>G	NP_000483.3:p.Ile1005Arg	NC_000007.13:g.117250598T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3017C>A (p.Ala1006Glu)	1080	CFTR	not provided	397508480	RCV000046756;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250601	117250601	NM_000492.3:c.3017C>A	NP_000483.3:p.Ala1006Glu	NC_000007.13:g.117250601C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3021delT (p.Val1008Serfs)	1080	CFTR	not provided	397508481	RCV000046757;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250605	117250605	NM_000492.3:c.3021delT	NP_000483.3:p.Val1008Serfs	NC_000007.13:g.117250605delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3022delG (p.Val1008Serfs)	1080	CFTR	Likely pathogenic	397508482	RCV000046758;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250606	117250606	NM_000492.3:c.3022delG	NP_000483.3:p.Val1008Serfs	NC_000007.13:g.117250606delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3023T>A (p.Val1008Asp)	1080	CFTR	not provided	397508483	RCV000046759;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250607	117250607	NM_000492.3:c.3023T>A	NP_000483.3:p.Val1008Asp	NC_000007.13:g.117250607T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3025G>A (p.Ala1009Thr)	1080	CFTR	Uncertain significance	184724618	RCV000046760; RCV000175401;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117250609	117250609	NM_000492.3:c.3025G>A	NP_000483.3:p.Ala1009Thr	NC_000007.13:g.117250609G>A	-	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3038C>A (p.Pro1013His)	1080	CFTR	Likely pathogenic	193922516	RCV000029514;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250622	117250622	NM_000492.3:c.3038C>A	NP_000483.3:p.Pro1013His	NC_000007.13:g.117250622C>A,NC_000007.13:g.117250622C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3038C>T (p.Pro1013Leu)	1080	CFTR	not provided	193922516	RCV000046763;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250622	117250622	NM_000492.3:c.3038C>T	NP_000483.3:p.Pro1013Leu	NC_000007.13:g.117250622C>A,NC_000007.13:g.117250622C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3039dupC (p.Tyr1014Leufs)	1080	CFTR	not provided	397508485	RCV000046764;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250623	117250623	NM_000492.3:c.3039dupC	NP_000483.3:p.Tyr1014Leufs	NC_000007.13:g.117250623dupC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3039delC (p.Tyr1014Thrfs)	1080	CFTR	Pathogenic	121908781	RCV000046765;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250623	117250623	NM_000492.3:c.3039delC	NP_000483.3:p.Tyr1014Thrfs	NC_000007.13:g.117250623delC	CFTR2:268	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3041A>G (p.Tyr1014Cys)	1080	CFTR	Uncertain significance	149279509	RCV000046767; RCV000152997;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117250625	117250625	NM_000492.3:c.3041A>G	NP_000483.3:p.Tyr1014Cys	NC_000007.13:g.117250625A>G	HGMD:CM983570	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3041_3042delAC (p.Ile1015Leufs)	1080	CFTR	not provided	397508487	RCV000046768;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250625	117250626	NM_000492.3:c.3041_3042delAC	NP_000483.3:p.Ile1015Leufs	NC_000007.13:g.117250625_117250626delAC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3047T>C (p.Phe1016Ser)	1080	CFTR	not provided	397508488	RCV000046769;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250631	117250631	NM_000492.3:c.3047T>C	NP_000483.3:p.Phe1016Ser	NC_000007.13:g.117250631T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3059T>A (p.Val1020Glu)	1080	CFTR	not provided	397508489	RCV000046770;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250643	117250643	NM_000492.3:c.3059T>A	NP_000483.3:p.Val1020Glu	NC_000007.13:g.117250643T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3061C>T (p.Pro1021Ser)	1080	CFTR	not provided	397508491	RCV000046772;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250645	117250645	NM_000492.3:c.3061C>T	NP_000483.3:p.Pro1021Ser	NC_000007.13:g.117250645C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3064_3117del54 (p.Val1022_Gln1039del)	1080	CFTR	not provided	-1	RCV000046774;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250648	117250701	NM_000492.3:c.3064_3117del54	NP_000483.3:p.Val1022_Gln1039del		-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3067_3072delATAGTG (p.Ile1023_Val1024del)	1080	CFTR	Pathogenic	121908767	RCV000046775; RCV000078992;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117250651	117250656	NM_000492.3:c.3067_3072delATAGTG	NP_000483.3:p.Ile1023_Val1024del	NC_000007.13:g.117250651_117250656delATAGTG	HGMD:CD941637	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3068_3072delTAGTG (p.Ile1023Serfs)	1080	CFTR	not provided	397508493	RCV000046776;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250652	117250656	NM_000492.3:c.3068_3072delTAGTG	NP_000483.3:p.Ile1023Serfs	NC_000007.13:g.117250652_117250656delTAGTG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr)	1080	CFTR	Benign	1800112	RCV000029515; RCV000078993;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117250664	117250664	NM_000492.3:c.3080T>C	NP_000483.3:p.Ile1027Thr	NC_000007.13:g.117250664T>C	HGMD:CM960287	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.3083T>G (p.Met1028Arg)	1080	CFTR	not provided	397508494	RCV000046777;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250667	117250667	NM_000492.3:c.3083T>G	NP_000483.3:p.Met1028Arg	NC_000007.13:g.117250667T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3084G>T (p.Met1028Ile)	1080	CFTR	not provided	200553511	RCV000046778;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250668	117250668	NM_000492.3:c.3084G>T	NP_000483.3:p.Met1028Ile	NC_000007.13:g.117250668G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3094T>A (p.Tyr1032Asn)	1080	CFTR	not provided	397508495	RCV000046779;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250678	117250678	NM_000492.3:c.3094T>A	NP_000483.3:p.Tyr1032Asn	NC_000007.13:g.117250678T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys)	1080	CFTR	Pathogenic	144055758	RCV000029516;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250679	117250679	NM_000492.3:c.3095A>G	NP_000483.3:p.Tyr1032Cys	NC_000007.13:g.117250679A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3103C>T (p.Gln1035Ter)	1080	CFTR	not provided	397508496	RCV000046781;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250687	117250687	NM_000492.3:c.3103C>T	NP_000483.3:p.Gln1035Ter	NC_000007.13:g.117250687C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3106delA (p.Thr1036Profs)	1080	CFTR	not provided	397508497	RCV000046782;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250690	117250690	NM_000492.3:c.3106delA	NP_000483.3:p.Thr1036Profs	NC_000007.13:g.117250690delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn)	1080	CFTR	not provided	397508498	RCV000046783;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250691	117250691	NM_000492.3:c.3107C>A	NP_000483.3:p.Thr1036Asn	NC_000007.13:g.117250691C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3124C>T (p.Gln1042Ter)	1080	CFTR	not provided	397508500	RCV000046785;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250708	117250708	NM_000492.3:c.3124C>T	NP_000483.3:p.Gln1042Ter	NC_000007.13:g.117250708C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3131A>G (p.Glu1044Gly)	1080	CFTR	not provided	397508501	RCV000046786;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250715	117250715	NM_000492.3:c.3131A>G	NP_000483.3:p.Glu1044Gly	NC_000007.13:g.117250715A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3139G>C (p.Gly1047Arg)	1080	CFTR	not provided	397508504	RCV000046790;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250723	117250723	NM_000492.3:c.3139G>C	NP_000483.3:p.Gly1047Arg	NC_000007.13:g.117250723G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3139_3139+1delGG	1080	CFTR	Likely pathogenic	397508505	RCV000046791;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250723	117250724	NM_000492.3:c.3139_3139+1delGG		NC_000007.13:g.117250723_117250724delGG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3139+1G>A	1080	CFTR	not provided	397508503	RCV000046788;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250724	117250724	NM_000492.3:c.3139+1G>A		NC_000007.13:g.117250724G>A,NC_000007.13:g.117250724G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3139+1G>T	1080	CFTR	not provided	397508503	RCV000046789;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250724	117250724	NM_000492.3:c.3139+1G>T		NC_000007.13:g.117250724G>A,NC_000007.13:g.117250724G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3139+8A>G	1080	CFTR	Uncertain significance	193922517	RCV000029518;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250731	117250731	NM_000492.3:c.3139+8A>G		NC_000007.13:g.117250731A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3139+18C>T	1080	CFTR	Uncertain significance	147945812	RCV000029517;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250741	117250741	NM_000492.3:c.3139+18C>T		NC_000007.13:g.117250741C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3139+101C>G	1080	CFTR	not provided	397508502	RCV000046787;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250824	117250824	NM_000492.3:c.3139+101C>G		NC_000007.13:g.117250824C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3140-649_3140-54del596	1080	CFTR	not provided	-1	RCV000046796;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117250986	117251581	NM_000492.3:c.3140-649_3140-54del596			-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3140-26A>G	1080	CFTR	Pathogenic	76151804	RCV000029519;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251609	117251609	NM_000492.3:c.3140-26A>G		NC_000007.13:g.117251609A>G	CFTR2:3272-26A->G	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3140-4A>G	1080	CFTR	not provided	397508507	RCV000046795;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251631	117251631	NM_000492.3:c.3140-4A>G		NC_000007.13:g.117251631A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3140-1G>A	1080	CFTR	not provided	397508506	RCV000046793;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251634	117251634	NM_000492.3:c.3140-1G>A		NC_000007.13:g.117251634G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3140G>A (p.Gly1047Asp)	1080	CFTR	not provided	397508508	RCV000046797;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251635	117251635	NM_000492.3:c.3140G>A	NP_000483.3:p.Gly1047Asp	NC_000007.13:g.117251635G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val)	1080	CFTR	Likely pathogenic;Uncertain significance	150212784	RCV000046799;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251649	117251649	NM_000492.3:c.3154T>G	NP_000483.3:p.Phe1052Val	NC_000007.13:g.117251649T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3158C>T (p.Thr1053Ile)	1080	CFTR	Uncertain significance	140883683	RCV000046800;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251653	117251653	NM_000492.3:c.3158C>T	NP_000483.3:p.Thr1053Ile	NC_000007.13:g.117251653C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3160C>G (p.His1054Asp)	1080	CFTR	Pathogenic	397508510	RCV000046801;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251655	117251655	NM_000492.3:c.3160C>G	NP_000483.3:p.His1054Asp	NC_000007.13:g.117251655C>G	CFTR2:163	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3161delA (p.His1054Leufs)	1080	CFTR	Pathogenic	387906377	RCV000007642;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251656	117251656	NM_000492.3:c.3161delA	NP_000483.3:p.His1054Leufs	NC_000007.13:g.117251656delA	OMIM Allelic Variant:602421.0117	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3169A>G (p.Thr1057Ala)	1080	CFTR	not provided	397508511	RCV000046803;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251664	117251664	NM_000492.3:c.3169A>G	NP_000483.3:p.Thr1057Ala	NC_000007.13:g.117251664A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3176T>G (p.Leu1059Ter)	1080	CFTR	not provided	397508512	RCV000046804;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251671	117251671	NM_000492.3:c.3176T>G	NP_000483.3:p.Leu1059Ter	NC_000007.13:g.117251671T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3177A>G (p.Leu1059=)	1080	CFTR	not provided	1800113	RCV000046805;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251672	117251672	NM_000492.3:c.3177A>G	NP_000483.3:p.Leu1059=	NC_000007.13:g.117251672A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3179A>C (p.Lys1060Thr)	1080	CFTR	not provided	397508513	RCV000046806;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251674	117251674	NM_000492.3:c.3179A>C	NP_000483.3:p.Lys1060Thr	NC_000007.13:g.117251674A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg)	1080	CFTR	Pathogenic	142394380	RCV000046807; RCV000078994;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117251676	117251676	NM_000492.3:c.3181G>C	NP_000483.3:p.Gly1061Arg	NC_000007.13:g.117251676G>C	CFTR2:165,HGMD:CM930126	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3184_3188dupCTATG (p.Trp1063Cysfs)	1080	CFTR	Pathogenic	387906366	RCV000007581;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251679	117251683	NM_000492.3:c.3184_3188dupCTATG	NP_000483.3:p.Trp1063Cysfs	NC_000007.13:g.117251679_117251683dupCTATG	OMIM Allelic Variant:602421.0057	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3189G>A (p.Trp1063Ter)	1080	CFTR	not provided	397508514	RCV000046809;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251684	117251684	NM_000492.3:c.3189G>A	NP_000483.3:p.Trp1063Ter	NC_000007.13:g.117251684G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3193C>T (p.Leu1065Phe)	1080	CFTR	not provided	397508515	RCV000046810;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251688	117251688	NM_000492.3:c.3193C>T	NP_000483.3:p.Leu1065Phe	NC_000007.13:g.117251688C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3194T>C (p.Leu1065Pro)	1080	CFTR	Pathogenic	121909036	RCV000007629;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251689	117251689	NM_000492.3:c.3194T>C	NP_000483.3:p.Leu1065Pro	NC_000007.13:g.117251689T>C,NC_000007.13:g.117251689T>G	CFTR2:L1065P,OMIM Allelic Variant:602421.0103	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3194T>G (p.Leu1065Arg)	1080	CFTR	not provided	121909036	RCV000046812;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251689	117251689	NM_000492.3:c.3194T>G	NP_000483.3:p.Leu1065Arg	NC_000007.13:g.117251689T>C,NC_000007.13:g.117251689T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3196C>T (p.Arg1066Cys)	1080	CFTR	Pathogenic	78194216	RCV000007582;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251691	117251691	NM_000492.3:c.3196C>T	NP_000483.3:p.Arg1066Cys	NC_000007.13:g.117251691C>A,NC_000007.13:g.117251691C>T	CFTR2:R1066C,OMIM Allelic Variant:602421.0058	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3196C>A (p.Arg1066Ser)	1080	CFTR	not provided	78194216	RCV000046813;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251691	117251691	NM_000492.3:c.3196C>A	NP_000483.3:p.Arg1066Ser	NC_000007.13:g.117251691C>A,NC_000007.13:g.117251691C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3197G>A (p.Arg1066His)	1080	CFTR	Pathogenic	121909019	RCV000007578;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251692	117251692	NM_000492.3:c.3197G>A	NP_000483.3:p.Arg1066His	NC_000007.13:g.117251692G>A,NC_000007.13:g.117251692G>T	CFTR2:R1066H,OMIM Allelic Variant:602421.0054	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3197G>T (p.Arg1066Leu)	1080	CFTR	not provided	121909019	RCV000046816;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251692	117251692	NM_000492.3:c.3197G>T	NP_000483.3:p.Arg1066Leu	NC_000007.13:g.117251692G>A,NC_000007.13:g.117251692G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr)	1080	CFTR	Pathogenic;Uncertain significance	121909020	RCV000007579; RCV000078995;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117251694	117251694	NM_000492.3:c.3199G>A	NP_000483.3:p.Ala1067Thr	NC_000007.13:g.117251694G>A,NC_000007.13:g.117251694G>C	HGMD:CM920176,OMIM Allelic Variant:602421.0055	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3199G>C (p.Ala1067Pro)	1080	CFTR	not provided	121909020	RCV000046818;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251694	117251694	NM_000492.3:c.3199G>C	NP_000483.3:p.Ala1067Pro	NC_000007.13:g.117251694G>A,NC_000007.13:g.117251694G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3200C>A (p.Ala1067Asp)	1080	CFTR	not provided	1800114	RCV000046820;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251695	117251695	NM_000492.3:c.3200C>A	NP_000483.3:p.Ala1067Asp	NC_000007.13:g.117251695C>A,NC_000007.13:g.117251695C>G,NC_000007.13:g.117251695	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3200C>G (p.Ala1067Gly)	1080	CFTR	not provided	1800114	RCV000046821;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251695	117251695	NM_000492.3:c.3200C>G	NP_000483.3:p.Ala1067Gly	NC_000007.13:g.117251695C>A,NC_000007.13:g.117251695C>G,NC_000007.13:g.117251695	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val)	1080	CFTR	not provided	1800114	RCV000046822;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251695	117251695	NM_000492.3:c.3200C>T	NP_000483.3:p.Ala1067Val	NC_000007.13:g.117251695C>A,NC_000007.13:g.117251695C>G,NC_000007.13:g.117251695	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg)	1080	CFTR	not provided	200321110	RCV000046823;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251700	117251700	NM_000492.3:c.3205G>A	NP_000483.3:p.Gly1069Arg	NC_000007.13:g.117251700G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp)	1080	CFTR	Pathogenic	202179988	RCV000046824; RCV000219441;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48	7	117251703	117251703	NM_000492.3:c.3208C>T	NP_000483.3:p.Arg1070Trp	NC_000007.13:g.117251703C>T	-	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln)	1080	CFTR	Likely pathogenic;Pathogenic	78769542	RCV000046825; RCV000176040;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48	7	117251704	117251704	NM_000492.3:c.3209G>A	NP_000483.3:p.Arg1070Gln	NC_000007.13:g.117251704G>A,NC_000007.13:g.117251704G>C	-	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3209G>C (p.Arg1070Pro)	1080	CFTR	not provided	78769542	RCV000046826;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251704	117251704	NM_000492.3:c.3209G>C	NP_000483.3:p.Arg1070Pro	NC_000007.13:g.117251704G>A,NC_000007.13:g.117251704G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3211C>T (p.Gln1071Ter)	1080	CFTR	not provided	397508517	RCV000046827;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251706	117251706	NM_000492.3:c.3211C>T	NP_000483.3:p.Gln1071Ter	NC_000007.13:g.117251706C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3212A>C (p.Gln1071Pro)	1080	CFTR	Pathogenic	121909037	RCV000007630;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251707	117251707	NM_000492.3:c.3212A>C	NP_000483.3:p.Gln1071Pro	NC_000007.13:g.117251707A>C	OMIM Allelic Variant:602421.0104	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu)	1080	CFTR	Likely pathogenic	186045772	RCV000046829;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251717	117251717	NM_000492.3:c.3222T>A	NP_000483.3:p.Phe1074Leu	NC_000007.13:g.117251717T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3229_3230delCT (p.Leu1077Valfs)	1080	CFTR	not provided	397508518	RCV000046830;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251724	117251725	NM_000492.3:c.3229_3230delCT	NP_000483.3:p.Leu1077Valfs	NC_000007.13:g.117251724_117251725delCT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3230T>C (p.Leu1077Pro)	1080	CFTR	Pathogenic	139304906	RCV000056377;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251725	117251725	NM_000492.3:c.3230T>C	NP_000483.3:p.Leu1077Pro	NC_000007.13:g.117251725T>C	CFTR2:L1077P	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3236A>C (p.His1079Pro)	1080	CFTR	not provided	397508519	RCV000046832;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251731	117251731	NM_000492.3:c.3236A>C	NP_000483.3:p.His1079Pro	NC_000007.13:g.117251731A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3241G>C (p.Ala1081Pro)	1080	CFTR	not provided	397508521	RCV000046834;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251736	117251736	NM_000492.3:c.3241G>C	NP_000483.3:p.Ala1081Pro	NC_000007.13:g.117251736G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3254A>G (p.His1085Arg)	1080	CFTR	Likely pathogenic;Pathogenic	79635528	RCV000007631;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251749	117251749	NM_000492.3:c.3254A>G	NP_000483.3:p.His1085Arg	NC_000007.13:g.117251749A>G	OMIM Allelic Variant:602421.0105	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3257C>T (p.Thr1086Ile)	1080	CFTR	not provided	77958296	RCV000046836;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251752	117251752	NM_000492.3:c.3257C>T	NP_000483.3:p.Thr1086Ile	NC_000007.13:g.117251752C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3262A>G (p.Asn1088Asp)	1080	CFTR	not provided	397508523	RCV000046839;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251757	117251757	NM_000492.3:c.3262A>G	NP_000483.3:p.Asn1088Asp	NC_000007.13:g.117251757A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3263dupA (p.Asn1088Lysfs)	1080	CFTR	not provided	397508524	RCV000046840;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251758	117251758	NM_000492.3:c.3263dupA	NP_000483.3:p.Asn1088Lysfs	NC_000007.13:g.117251758dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3264delC (p.Trp1089Glyfs)	1080	CFTR	not provided	397508525	RCV000046841;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251759	117251759	NM_000492.3:c.3264delC	NP_000483.3:p.Trp1089Glyfs	NC_000007.13:g.117251759delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3266G>A (p.Trp1089Ter)	1080	CFTR	Pathogenic	78802634	RCV000007615;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251761	117251761	NM_000492.3:c.3266G>A	NP_000483.3:p.Trp1089Ter	NC_000007.13:g.117251761G>A	CFTR2:W1089X,OMIM Allelic Variant:602421.0088	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3276C>G (p.Tyr1092Ter)	1080	CFTR	Pathogenic	121908761	RCV000056380; RCV000119251;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251771	117251771	NM_000492.3:c.3276C>G	NP_000483.3:p.Tyr1092Ter	NC_000007.13:g.117251771C>A,NC_000007.13:g.117251771C>G	CFTR2:Y1092X_22250,OMIM Allelic Variant:602421.0106	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3276C>G (p.Tyr1092Ter)	1080	CFTR	Pathogenic	121908761	RCV000056380; RCV000119251;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251771	117251771	NM_000492.3:c.3276C>G	NP_000483.3:p.Tyr1092Ter	NC_000007.13:g.117251771C>A,NC_000007.13:g.117251771C>G	CFTR2:Y1092X_22250,OMIM Allelic Variant:602421.0106	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3276C>A (p.Tyr1092Ter)	1080	CFTR	Pathogenic	121908761	RCV000056379; RCV000119251;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251771	117251771	NM_000492.3:c.3276C>A	NP_000483.3:p.Tyr1092Ter	NC_000007.13:g.117251771C>A,NC_000007.13:g.117251771C>G	CFTR2:Y1092X_47333	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3276C>A (p.Tyr1092Ter)	1080	CFTR	Pathogenic	121908761	RCV000056379; RCV000119251;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251771	117251771	NM_000492.3:c.3276C>A	NP_000483.3:p.Tyr1092Ter	NC_000007.13:g.117251771C>A,NC_000007.13:g.117251771C>G	CFTR2:Y1092X_47333	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3278T>C (p.Leu1093Pro)	1080	CFTR	not provided	397508527	RCV000046847;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251773	117251773	NM_000492.3:c.3278T>C	NP_000483.3:p.Leu1093Pro	NC_000007.13:g.117251773T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3281_3367+268del355insTGTTAA	1080	CFTR	not provided	-1	RCV000046849;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251776	117252130	NM_000492.3:c.3281_3367+268del355insTGTTAA			-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3287delT (p.Leu1096Argfs)	1080	CFTR	not provided	397508529	RCV000046850;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251782	117251782	NM_000492.3:c.3287delT	NP_000483.3:p.Leu1096Argfs	NC_000007.13:g.117251782delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3292T>C (p.Trp1098Arg)	1080	CFTR	not provided	397508531	RCV000046854;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251787	117251787	NM_000492.3:c.3292T>C	NP_000483.3:p.Trp1098Arg	NC_000007.13:g.117251787T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3293G>A (p.Trp1098Ter)	1080	CFTR	Pathogenic	397508532	RCV000046855;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251788	117251788	NM_000492.3:c.3293G>A	NP_000483.3:p.Trp1098Ter	NC_000007.13:g.117251788G>A	CFTR2:244	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3294G>C (p.Trp1098Cys)	1080	CFTR	not provided	397508533	RCV000046856;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251789	117251789	NM_000492.3:c.3294G>C	NP_000483.3:p.Trp1098Cys	NC_000007.13:g.117251789G>A,NC_000007.13:g.117251789G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3294delG (p.Trp1098Cysfs)	1080	CFTR	not provided	397508534	RCV000046857;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251789	117251789	NM_000492.3:c.3294delG	NP_000483.3:p.Trp1098Cysfs	NC_000007.13:g.117251789delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3294G>A (p.Trp1098Ter)	1080	CFTR	Pathogenic	397508533	RCV000191002;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251789	117251789	NM_000492.3:c.3294G>A	NP_000483.3:p.Trp1098Ter	NC_000007.13:g.117251789G>A,NC_000007.13:g.117251789G>C	CFTR2:244_1	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3299A>C (p.Gln1100Pro)	1080	CFTR	not provided	397508535	RCV000046858;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251794	117251794	NM_000492.3:c.3299A>C	NP_000483.3:p.Gln1100Pro	NC_000007.13:g.117251794A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3302T>A (p.Met1101Lys)	1080	CFTR	Pathogenic	36210737	RCV000032712; RCV000078996;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117251797	117251797	NM_000492.3:c.3302T>A	NP_000483.3:p.Met1101Lys	NC_000007.13:g.117251797T>A,NC_000007.13:g.117251797T>G	CFTR2:M1101K,HGMD:CM930130,OMIM Allelic Variant:602421.0137	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3302T>G (p.Met1101Arg)	1080	CFTR	not provided	36210737	RCV000046860;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251797	117251797	NM_000492.3:c.3302T>G	NP_000483.3:p.Met1101Arg	NC_000007.13:g.117251797T>A,NC_000007.13:g.117251797T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3304A>T (p.Arg1102Ter)	1080	CFTR	Pathogenic	397508536	RCV000046861;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251799	117251799	NM_000492.3:c.3304A>T	NP_000483.3:p.Arg1102Ter	NC_000007.13:g.117251799A>T	CFTR2:264	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3310G>T (p.Glu1104Ter)	1080	CFTR	Pathogenic	397508538	RCV000056381;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251805	117251805	NM_000492.3:c.3310G>T	NP_000483.3:p.Glu1104Ter	NC_000007.13:g.117251805G>T	CFTR2:E1104X	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3314T>G (p.Met1105Arg)	1080	CFTR	not provided	397508539	RCV000046864;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251809	117251809	NM_000492.3:c.3314T>G	NP_000483.3:p.Met1105Arg	NC_000007.13:g.117251809T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3315delG (p.Met1105Ilefs)	1080	CFTR	not provided	397508540	RCV000046865;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251810	117251810	NM_000492.3:c.3315delG	NP_000483.3:p.Met1105Ilefs	NC_000007.13:g.117251810delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3322G>C (p.Val1108Leu)	1080	CFTR	not provided	397508542	RCV000046867;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251817	117251817	NM_000492.3:c.3322G>C	NP_000483.3:p.Val1108Leu	NC_000007.13:g.117251817G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3353C>G (p.Ser1118Cys)	1080	CFTR	not provided	146521846	RCV000046869;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251848	117251848	NM_000492.3:c.3353C>G	NP_000483.3:p.Ser1118Cys	NC_000007.13:g.117251848C>G,NC_000007.13:g.117251848C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3353C>T (p.Ser1118Phe)	1080	CFTR	not provided	146521846	RCV000046870;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251848	117251848	NM_000492.3:c.3353C>T	NP_000483.3:p.Ser1118Phe	NC_000007.13:g.117251848C>G,NC_000007.13:g.117251848C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3364delA (p.Thr1122Glnfs)	1080	CFTR	not provided	397508543	RCV000046871;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251859	117251859	NM_000492.3:c.3364delA	NP_000483.3:p.Thr1122Glnfs	NC_000007.13:g.117251859delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3367G>C (p.Gly1123Arg)	1080	CFTR	not provided	397508546	RCV000046874;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251862	117251862	NM_000492.3:c.3367G>C	NP_000483.3:p.Gly1123Arg	NC_000007.13:g.117251862G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3367+2T>C	1080	CFTR	not provided	397508544	RCV000046872;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251864	117251864	NM_000492.3:c.3367+2T>C		NC_000007.13:g.117251864T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3367+6A>G	1080	CFTR	not provided	397508545	RCV000046873;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117251868	117251868	NM_000492.3:c.3367+6A>G		NC_000007.13:g.117251868A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3368-2A>G	1080	CFTR	Pathogenic	755416052	RCV000169111;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254665	117254665	NM_000492.3:c.3368-2A>G		NC_000007.13:g.117254665A>G	CFTR2:235	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3368-1G>A	1080	CFTR	not provided	397508547	RCV000046875;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254666	117254666	NM_000492.3:c.3368-1G>A		NC_000007.13:g.117254666G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3371_3373delAAG (p.Glu1124del)	1080	CFTR	not provided	397508548	RCV000046876;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254670	117254672	NM_000492.3:c.3371_3373delAAG	NP_000483.3:p.Glu1124del	NC_000007.13:g.117254670_117254672delAAG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3382A>T (p.Arg1128Ter)	1080	CFTR	not provided	397508549	RCV000046877;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254681	117254681	NM_000492.3:c.3382A>T	NP_000483.3:p.Arg1128Ter	NC_000007.13:g.117254681A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3389G>C (p.Gly1130Ala)	1080	CFTR	not provided	397508550	RCV000046878;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254688	117254688	NM_000492.3:c.3389G>C	NP_000483.3:p.Gly1130Ala	NC_000007.13:g.117254688G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3400_3401delACinsGTA (p.Thr1134Valfs)	1080	CFTR	not provided	397508552	RCV000046880;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254699	117254700	NM_000492.3:c.3400_3401delACinsGTA	NP_000483.3:p.Thr1134Valfs	NC_000007.13:g.117254699_117254700delACinsGTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3409A>G (p.Met1137Val)	1080	CFTR	not provided	397508553	RCV000046881;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254708	117254708	NM_000492.3:c.3409A>G	NP_000483.3:p.Met1137Val	NC_000007.13:g.117254708A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3410T>G (p.Met1137Arg)	1080	CFTR	not provided	397508555	RCV000046883;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254709	117254709	NM_000492.3:c.3410T>G	NP_000483.3:p.Met1137Arg	NC_000007.13:g.117254709T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val)	1080	CFTR	not provided	397508556	RCV000046884;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254714	117254714	NM_000492.3:c.3415A>G	NP_000483.3:p.Ile1139Val	NC_000007.13:g.117254714A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3418_3420delATG (p.Met1140del)	1080	CFTR	not provided	397508557	RCV000046885;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254717	117254719	NM_000492.3:c.3418_3420delATG	NP_000483.3:p.Met1140del	NC_000007.13:g.117254717_117254719delATG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3419T>A (p.Met1140Lys)	1080	CFTR	not provided	397508558	RCV000046886;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254718	117254718	NM_000492.3:c.3419T>A	NP_000483.3:p.Met1140Lys	NC_000007.13:g.117254718T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3421_3424dupAGTA (p.Thr1142Lysfs)	1080	CFTR	not provided	397508559	RCV000046887;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254720	117254723	NM_000492.3:c.3421_3424dupAGTA	NP_000483.3:p.Thr1142Lysfs	NC_000007.13:g.117254720_117254723dupAGTA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3430C>T (p.Gln1144Ter)	1080	CFTR	not provided	397508560	RCV000046888;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254729	117254729	NM_000492.3:c.3430C>T	NP_000483.3:p.Gln1144Ter	NC_000007.13:g.117254729C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3435G>A (p.Trp1145Ter)	1080	CFTR	not provided	397508561	RCV000046889;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254734	117254734	NM_000492.3:c.3435G>A	NP_000483.3:p.Trp1145Ter	NC_000007.13:g.117254734G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3439G>A (p.Val1147Ile)	1080	CFTR	not provided	397508562	RCV000046890;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254738	117254738	NM_000492.3:c.3439G>A	NP_000483.3:p.Val1147Ile	NC_000007.13:g.117254738G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3443A>G (p.Asn1148Ser)	1080	CFTR	not provided	397508564	RCV000046892;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254742	117254742	NM_000492.3:c.3443A>G	NP_000483.3:p.Asn1148Ser	NC_000007.13:g.117254742A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3444C>A (p.Asn1148Lys)	1080	CFTR	not provided	397508565	RCV000046893;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254743	117254743	NM_000492.3:c.3444C>A	NP_000483.3:p.Asn1148Lys	NC_000007.13:g.117254743C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3445delT (p.Ser1149Profs)	1080	CFTR	not provided	397508566	RCV000046894;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254744	117254744	NM_000492.3:c.3445delT	NP_000483.3:p.Ser1149Profs	NC_000007.13:g.117254744delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His)	1080	CFTR	Pathogenic	75541969	RCV000046895; RCV000176162; RCV000176163;	Y	MedGen:C0006267,OMIM:211400,SNOMED CT:12295008; MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0403814,OMIM:277180,ORPHA:48	7	117254753	117254753	NM_000492.3:c.3454G>C	NP_000483.3:p.Asp1152His	NC_000007.13:g.117254753G>C	-	C0006267 211400 Bronchiectasis; C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3458T>A (p.Val1153Glu)	1080	CFTR	not provided	397508567	RCV000046896;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254757	117254757	NM_000492.3:c.3458T>A	NP_000483.3:p.Val1153Glu	NC_000007.13:g.117254757T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3460G>T (p.Asp1154Tyr)	1080	CFTR	not provided	397508568	RCV000046897;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254759	117254759	NM_000492.3:c.3460G>T	NP_000483.3:p.Asp1154Tyr	NC_000007.13:g.117254759G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3461A>G (p.Asp1154Gly)	1080	CFTR	not provided	397508569	RCV000046898;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117254760	117254760	NM_000492.3:c.3461A>G	NP_000483.3:p.Asp1154Gly	NC_000007.13:g.117254760A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3468G>A (p.Leu1156=)	1080	CFTR	Likely pathogenic;Uncertain significance	139729994	RCV000046899; RCV000176164;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117254767	117254767	NM_000492.3:c.3468G>A	NP_000483.3:p.Leu1156=	NC_000007.13:g.117254767G>A	-	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3469-20T>C	1080	CFTR	Pathogenic	373002889	RCV000007649;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267556	117267556	NM_000492.3:c.3469-20T>C		NC_000007.13:g.117267556T>C	OMIM Allelic Variant:602421.0126	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3469-17T>C	1080	CFTR	not provided	199630678	RCV000046900;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267559	117267559	NM_000492.3:c.3469-17T>C		NC_000007.13:g.117267559T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3469-2A>G	1080	CFTR	not provided	397508570	RCV000046902;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267574	117267574	NM_000492.3:c.3469-2A>G		NC_000007.13:g.117267574A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3469_3717del249 (p.Met1157_Arg1239del)	1080	CFTR	not provided	-1	RCV000046903;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267576	117267824	NM_000492.3:c.3469_3717del249	NP_000483.3:p.Met1157_Arg1239del		-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter)	1080	CFTR	Pathogenic	79850223	RCV000007564;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267579	117267579	NM_000492.3:c.3472C>T	NP_000483.3:p.Arg1158Ter	NC_000007.13:g.117267579C>T	CFTR2:R1158X,OMIM Allelic Variant:602421.0039	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3475T>C (p.Ser1159Pro)	1080	CFTR	not provided	397508572	RCV000046907;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267582	117267582	NM_000492.3:c.3475T>C	NP_000483.3:p.Ser1159Pro	NC_000007.13:g.117267582T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3476C>T (p.Ser1159Phe)	1080	CFTR	not provided	397508573	RCV000046908;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267583	117267583	NM_000492.3:c.3476C>T	NP_000483.3:p.Ser1159Phe	NC_000007.13:g.117267583C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3481A>C (p.Ser1161Arg)	1080	CFTR	not provided	397508574	RCV000046909;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267588	117267588	NM_000492.3:c.3481A>C	NP_000483.3:p.Ser1161Arg	NC_000007.13:g.117267588A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3484C>T (p.Arg1162Ter)	1080	CFTR	Pathogenic	74767530	RCV000007557;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267591	117267591	NM_000492.3:c.3484C>T	NP_000483.3:p.Arg1162Ter	NC_000007.13:g.117267591C>T	CFTR2:R1162X,OMIM Allelic Variant:602421.0033	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3485_3486delGA (p.Val1163Leufs)	1080	CFTR	not provided	397508575	RCV000046911;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267592	117267593	NM_000492.3:c.3485_3486delGA	NP_000483.3:p.Val1163Leufs	NC_000007.13:g.117267592_117267593delGA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3492dupT (p.Lys1165Terfs)	1080	CFTR	Pathogenic	387906379	RCV000007652;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267599	117267599	NM_000492.3:c.3492dupT	NP_000483.3:p.Lys1165Terfs	NC_000007.13:g.117267599dupT	OMIM Allelic Variant:602421.0125	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3497T>G (p.Phe1166Cys)	1080	CFTR	not provided	397508577	RCV000046913;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267604	117267604	NM_000492.3:c.3497T>G	NP_000483.3:p.Phe1166Cys	NC_000007.13:g.117267604T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3503A>G (p.Asp1168Gly)	1080	CFTR	not provided	150326506	RCV000046916;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267610	117267610	NM_000492.3:c.3503A>G	NP_000483.3:p.Asp1168Gly	NC_000007.13:g.117267610A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3528delC (p.Lys1177Serfs)	1080	CFTR	Pathogenic	121908747	RCV000029523;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267635	117267635	NM_000492.3:c.3528delC	NP_000483.3:p.Lys1177Serfs	NC_000007.13:g.117267635delC	CFTR2:3659delC	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3529A>T (p.Lys1177Ter)	1080	CFTR	not provided	397508578	RCV000046921;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267636	117267636	NM_000492.3:c.3529A>T	NP_000483.3:p.Lys1177Ter	NC_000007.13:g.117267636A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3530delA (p.Lys1177Serfs)	1080	CFTR	not provided	397508579	RCV000046922;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267637	117267637	NM_000492.3:c.3530delA	NP_000483.3:p.Lys1177Serfs	NC_000007.13:g.117267637delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3532_3535dupTCAA (p.Thr1179Ilefs)	1080	CFTR	Pathogenic	387906378	RCV000007643;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267639	117267642	NM_000492.3:c.3532_3535dupTCAA	NP_000483.3:p.Thr1179Ilefs	NC_000007.13:g.117267639_117267642dupTCAA	CFTR2:183,OMIM Allelic Variant:602421.0118	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3535_3538delACCA (p.Thr1179Asnfs)	1080	CFTR	not provided	121908782	RCV000046923;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267642	117267645	NM_000492.3:c.3535_3538delACCA	NP_000483.3:p.Thr1179Asnfs	NC_000007.13:g.117267642_117267645delACCA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3540delA (p.Lys1180Asnfs)	1080	CFTR	not provided	397508580	RCV000046924;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267647	117267647	NM_000492.3:c.3540delA	NP_000483.3:p.Lys1180Asnfs	NC_000007.13:g.117267647delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3546C>G (p.Tyr1182Ter)	1080	CFTR	not provided	397508581	RCV000046925;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267653	117267653	NM_000492.3:c.3546C>G	NP_000483.3:p.Tyr1182Ter	NC_000007.13:g.117267653C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3556C>T (p.Gln1186Ter)	1080	CFTR	not provided	397508582	RCV000046926;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267663	117267663	NM_000492.3:c.3556C>T	NP_000483.3:p.Gln1186Ter	NC_000007.13:g.117267663C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=)	1080	CFTR	Likely benign	1800121	RCV000029524;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267665	117267665	NM_000492.3:c.3558A>G	NP_000483.3:p.Gln1186=	NC_000007.13:g.117267665A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3584A>C (p.Asn1195Thr)	1080	CFTR	not provided	397508584	RCV000046928;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267691	117267691	NM_000492.3:c.3584A>C	NP_000483.3:p.Asn1195Thr	NC_000007.13:g.117267691A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3587C>G (p.Ser1196Ter)	1080	CFTR	Pathogenic	121908763	RCV000056383;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267694	117267694	NM_000492.3:c.3587C>G	NP_000483.3:p.Ser1196Ter	NC_000007.13:g.117267694C>G	CFTR2:S1196X,Cystic Fibrosis Mutation Database:502	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3592delG (p.Val1198Terfs)	1080	CFTR	not provided	397508585	RCV000046931;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267699	117267699	NM_000492.3:c.3592delG	NP_000483.3:p.Val1198Terfs	NC_000007.13:g.117267699delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3600A>G (p.Lys1200=)	1080	CFTR	not provided	397508586	RCV000046932;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267707	117267707	NM_000492.3:c.3600A>G	NP_000483.3:p.Lys1200=	NC_000007.13:g.117267707A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3605delA (p.Asp1202Alafs)	1080	CFTR	Pathogenic	397508587	RCV000046933;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267712	117267712	NM_000492.3:c.3605delA	NP_000483.3:p.Asp1202Alafs	NC_000007.13:g.117267712delA	CFTR2:198	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3607A>G (p.Ile1203Val)	1080	CFTR	Uncertain significance	75647395	RCV000046934; RCV000152998;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117267714	117267714	NM_000492.3:c.3607A>G	NP_000483.3:p.Ile1203Val	NC_000007.13:g.117267714A>G	HGMD:CM920182	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3611G>A (p.Trp1204Ter)	1080	CFTR	Pathogenic	121908764	RCV000007633;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267718	117267718	NM_000492.3:c.3611G>A	NP_000483.3:p.Trp1204Ter	NC_000007.13:g.117267718G>A	CFTR2:W1204X_22251,OMIM Allelic Variant:602421.0107	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3612G>A (p.Trp1204Ter)	1080	CFTR	Pathogenic	121908765	RCV000056384; RCV000078999;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117267719	117267719	NM_000492.3:c.3612G>A	NP_000483.3:p.Trp1204Ter	NC_000007.13:g.117267719G>A	CFTR2:W1204X_68447,HGMD:CM067771	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3617C>A (p.Ser1206Ter)	1080	CFTR	not provided	397508588	RCV000046937;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267724	117267724	NM_000492.3:c.3617C>A	NP_000483.3:p.Ser1206Ter	NC_000007.13:g.117267724C>A,NC_000007.13:g.117267724C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3617C>G (p.Ser1206Ter)	1080	CFTR	not provided	397508588	RCV000046938;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267724	117267724	NM_000492.3:c.3617C>G	NP_000483.3:p.Ser1206Ter	NC_000007.13:g.117267724C>A,NC_000007.13:g.117267724C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3618_3619delAG (p.Gly1208Profs)	1080	CFTR	not provided	397508589	RCV000046939;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267725	117267726	NM_000492.3:c.3618_3619delAG	NP_000483.3:p.Gly1208Profs	NC_000007.13:g.117267725_117267726delAG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3623delG (p.Gly1208Alafs)	1080	CFTR	not provided	35396083	RCV000046940;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267730	117267730	NM_000492.3:c.3623delG	NP_000483.3:p.Gly1208Alafs	NC_000007.13:g.117267730delG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3629T>A (p.Met1210Lys)	1080	CFTR	not provided	397508590	RCV000046941;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267736	117267736	NM_000492.3:c.3629T>A	NP_000483.3:p.Met1210Lys	NC_000007.13:g.117267736T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3634G>A (p.Val1212Ile)	1080	CFTR	not provided	397508591	RCV000046942;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267741	117267741	NM_000492.3:c.3634G>A	NP_000483.3:p.Val1212Ile	NC_000007.13:g.117267741G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3659delC (p.Thr1220Lysfs)	1080	CFTR	Pathogenic	121908811	RCV000007544;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267766	117267766	NM_000492.3:c.3659delC	NP_000483.3:p.Thr1220Lysfs	NC_000007.13:g.117267766delC	CFTR2:3791delC,Cystic Fibrosis Mutation Database:510,OMIM Allelic Variant:602421.0020	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile)	1080	CFTR	Pathogenic	1800123	RCV000007635;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267766	117267766	NM_000492.3:c.3659C>T	NP_000483.3:p.Thr1220Ile	NC_000007.13:g.117267766C>T	OMIM Allelic Variant:602421.0109	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3680T>C (p.Leu1227Ser)	1080	CFTR	not provided	397508593	RCV000046946;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267787	117267787	NM_000492.3:c.3680T>C	NP_000483.3:p.Leu1227Ser	NC_000007.13:g.117267787T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3691delT (p.Ser1231Profs)	1080	CFTR	Pathogenic	121908783	RCV000029526;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267798	117267798	NM_000492.3:c.3691delT	NP_000483.3:p.Ser1231Profs	NC_000007.13:g.117267798delT	CFTR2:184	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3700A>G (p.Ile1234Val)	1080	CFTR	Pathogenic	75389940	RCV000007636;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267807	117267807	NM_000492.3:c.3700A>G	NP_000483.3:p.Ile1234Val	NC_000007.13:g.117267807A>G	CFTR2:106,OMIM Allelic Variant:602421.0110	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg)	1080	CFTR	Benign;Likely benign	34911792	RCV000029527; RCV000079000;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117267812	117267812	NM_000492.3:c.3705T>G	NP_000483.3:p.Ser1235Arg	NC_000007.13:g.117267812T>G	HGMD:CM930133	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.3712C>T (p.Gln1238Ter)	1080	CFTR	Pathogenic	121908766	RCV000007596;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267819	117267819	NM_000492.3:c.3712C>T	NP_000483.3:p.Gln1238Ter	NC_000007.13:g.117267819C>T	OMIM Allelic Variant:602421.0072	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3713A>G (p.Gln1238Arg)	1080	CFTR	not provided	397508594	RCV000046950;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267820	117267820	NM_000492.3:c.3713A>G	NP_000483.3:p.Gln1238Arg	NC_000007.13:g.117267820A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3717G>A (p.Arg1239=)	1080	CFTR	not provided	144781064	RCV000046955;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267824	117267824	NM_000492.3:c.3717G>A	NP_000483.3:p.Arg1239=	NC_000007.13:g.117267824G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3717+4A>G	1080	CFTR	Pathogenic	387906362	RCV000007558;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267828	117267828	NM_000492.3:c.3717+4A>G		NC_000007.13:g.117267828A>G	CFTR2:281,Cystic Fibrosis Mutation Database:519,OMIM Allelic Variant:602421.0040	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3717+5G>A	1080	CFTR	Likely pathogenic	193922520	RCV000029530;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267829	117267829	NM_000492.3:c.3717+5G>A		NC_000007.13:g.117267829G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3717+40A>G	1080	CFTR	not provided	397508595	RCV000046952;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267864	117267864	NM_000492.3:c.3717+40A>G		NC_000007.13:g.117267864A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3717+45G>A	1080	CFTR	not provided	145743767	RCV000046953;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267869	117267869	NM_000492.3:c.3717+45G>A		NC_000007.13:g.117267869G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3717+130_3717+131delAT	1080	CFTR	Uncertain significance	4148721	RCV000029529;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117267954	117267955	NM_000492.3:c.3717+130_3717+131delAT		NC_000007.13:g.117267954_117267955delAT	-	C0010674 219700 Cystic fibrosis
NM_000492.3:c.3718-2477C>T	1080	CFTR	Pathogenic	75039782	RCV000007586; RCV000079001;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117280015	117280015	NM_000492.3:c.3718-2477C>T		NC_000007.13:g.117280015C>T	CFTR2:3849+10kbC->T,Cystic Fibrosis Mutation Database:518,HGMD:CS941445,OMIM Allelic Variant:602421.0062	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.3718-79T>C	1080	CFTR	not provided	397508597	RCV000046959;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282413	117282413	NM_000492.3:c.3718-79T>C		NC_000007.13:g.117282413T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3718-24_3873+601del781	1080	CFTR	not provided	-1	RCV000046957;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282468	117283248	NM_000492.3:c.3718-24_3873+601del781			-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3718-3T>G	1080	CFTR	Pathogenic	397508596	RCV000046958;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282489	117282489	NM_000492.3:c.3718-3T>G		NC_000007.13:g.117282489T>G	CFTR2:285	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3718-1G>A	1080	CFTR	Pathogenic	387906369	RCV000007597;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282491	117282491	NM_000492.3:c.3718-1G>A		NC_000007.13:g.117282491G>A	CFTR2:190,OMIM Allelic Variant:602421.0073	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3719T>G (p.Val1240Gly)	1080	CFTR	not provided	397508598	RCV000046960;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282493	117282493	NM_000492.3:c.3719T>G	NP_000483.3:p.Val1240Gly	NC_000007.13:g.117282493T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3730G>A (p.Gly1244Arg)	1080	CFTR	not provided	397508599	RCV000046961;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282504	117282504	NM_000492.3:c.3730G>A	NP_000483.3:p.Gly1244Arg	NC_000007.13:g.117282504G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3731G>T (p.Gly1244Val)	1080	CFTR	Pathogenic	267606723	RCV000007661; RCV000046963;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282505	117282505	NM_000492.3:c.3731G>T	NP_000483.3:p.Gly1244Val	NC_000007.13:g.117282505G>A,NC_000007.13:g.117282505G>T	OMIM Allelic Variant:602421.0135	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3731G>T (p.Gly1244Val)	1080	CFTR	Pathogenic	267606723	RCV000007661; RCV000046963;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282505	117282505	NM_000492.3:c.3731G>T	NP_000483.3:p.Gly1244Val	NC_000007.13:g.117282505G>A,NC_000007.13:g.117282505G>T	OMIM Allelic Variant:602421.0135	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu)	1080	CFTR	Pathogenic;drug response	267606723	RCV000056386; RCV000211150;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117282505	117282505	NM_000492.3:c.3731G>A	NP_000483.3:p.Gly1244Glu	NC_000007.13:g.117282505G>A,NC_000007.13:g.117282505G>T	CFTR2:G1244E,PharmGKB Clinical Annotation:1183960795,PharmGKB:1183960795	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.3737C>T (p.Thr1246Ile)	1080	CFTR	not provided	397508600	RCV000046964;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282511	117282511	NM_000492.3:c.3737C>T	NP_000483.3:p.Thr1246Ile	NC_000007.13:g.117282511C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3739G>C (p.Gly1247Arg)	1080	CFTR	not provided	397508601	RCV000046965;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282513	117282513	NM_000492.3:c.3739G>C	NP_000483.3:p.Gly1247Arg	NC_000007.13:g.117282513G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3744delA (p.Lys1250Argfs)	1080	CFTR	Pathogenic	121908784	RCV000007653;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282518	117282518	NM_000492.3:c.3744delA	NP_000483.3:p.Lys1250Argfs	NC_000007.13:g.117282518delA	CFTR2:3876delA,OMIM Allelic Variant:602421.0127	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3745G>A (p.Gly1249Arg)	1080	CFTR	not provided	397508602	RCV000046967;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282519	117282519	NM_000492.3:c.3745G>A	NP_000483.3:p.Gly1249Arg	NC_000007.13:g.117282519G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3746G>A (p.Gly1249Glu)	1080	CFTR	Pathogenic	121909040	RCV000007637;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282520	117282520	NM_000492.3:c.3746G>A	NP_000483.3:p.Gly1249Glu	NC_000007.13:g.117282520G>A	OMIM Allelic Variant:602421.0111	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3747delG (p.Lys1250Argfs)	1080	CFTR	Pathogenic	797045159	RCV000191001;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282521	117282521	NM_000492.3:c.3747delG	NP_000483.3:p.Lys1250Argfs	NC_000007.13:g.117282521delG	CFTR2:243	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3752G>A (p.Ser1251Asn)	1080	CFTR	Pathogenic;drug response	74503330	RCV000007638; RCV000211301;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117282526	117282526	NM_000492.3:c.3752G>A	NP_000483.3:p.Ser1251Asn	NC_000007.13:g.117282526G>A	CFTR2:S1251N,OMIM Allelic Variant:602421.0112,PharmGKB Clinical Annotation:1183960800,PharmGKB:1183960800	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.3754A>C (p.Thr1252Pro)	1080	CFTR	not provided	397508603	RCV000046971;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282528	117282528	NM_000492.3:c.3754A>C	NP_000483.3:p.Thr1252Pro	NC_000007.13:g.117282528A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3759G>C (p.Leu1253Phe)	1080	CFTR	not provided	117400534	RCV000046972;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282533	117282533	NM_000492.3:c.3759G>C	NP_000483.3:p.Leu1253Phe	NC_000007.13:g.117282533G>A,NC_000007.13:g.117282533G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3759G>A (p.Leu1253=)	1080	CFTR	Likely benign	117400534	RCV000200334;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282533	117282533	NM_000492.3:c.3759G>A	NP_000483.3:p.Leu1253=	NC_000007.13:g.117282533G>A,NC_000007.13:g.117282533G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3761T>G (p.Leu1254Ter)	1080	CFTR	Pathogenic	397508604	RCV000046973;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282535	117282535	NM_000492.3:c.3761T>G	NP_000483.3:p.Leu1254Ter	NC_000007.13:g.117282535T>G	CFTR2:224	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3763T>C (p.Ser1255Pro)	1080	CFTR	Pathogenic;drug response	121909041	RCV000007613; RCV000211376;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN185459	7	117282537	117282537	NM_000492.3:c.3763T>C	NP_000483.3:p.Ser1255Pro	NC_000007.13:g.117282537T>C	CFTR2:218,OMIM Allelic Variant:602421.0113,PharmGKB Clinical Annotation:1183960785,PharmGKB:1183960785	C0010674 219700 Cystic fibrosis; CN185459 Ivacaftor response
NM_000492.3(CFTR):c.3764C>A (p.Ser1255Ter)	1080	CFTR	Pathogenic	76649725	RCV000007545;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282538	117282538	NM_000492.3:c.3764C>A	NP_000483.3:p.Ser1255Ter	NC_000007.13:g.117282538C>A,NC_000007.13:g.117282538C>T	CFTR2:200,OMIM Allelic Variant:602421.0021	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3764C>T (p.Ser1255Leu)	1080	CFTR	not provided	76649725	RCV000046976;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282538	117282538	NM_000492.3:c.3764C>T	NP_000483.3:p.Ser1255Leu	NC_000007.13:g.117282538C>A,NC_000007.13:g.117282538C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3767dupC (p.Leu1258Phefs)	1080	CFTR	Pathogenic	387906370	RCV000007598;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282541	117282541	NM_000492.3:c.3767dupC	NP_000483.3:p.Leu1258Phefs	NC_000007.13:g.117282541dupC	OMIM Allelic Variant:602421.0074	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu)	1080	CFTR	Likely benign	397508607	RCV000046979;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282545	117282545	NM_000492.3:c.3771T>G	NP_000483.3:p.Phe1257Leu	NC_000007.13:g.117282545T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs)	1080	CFTR	Pathogenic	121908789	RCV000046980;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282547	117282547	NM_000492.3:c.3773dupT	NP_000483.3:p.Leu1258Phefs	NC_000007.13:g.117282547dupT	CFTR2:3905insT	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3774dupG (p.Arg1259Glufs)	1080	CFTR	not provided	397508608	RCV000046982;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282548	117282548	NM_000492.3:c.3774dupG	NP_000483.3:p.Arg1259Glufs	NC_000007.13:g.117282548dupG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3780_3782delACT (p.Leu1261del)	1080	CFTR	not provided	397508610	RCV000046984;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282554	117282556	NM_000492.3:c.3780_3782delACT	NP_000483.3:p.Leu1261del	NC_000007.13:g.117282554_117282556delACT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn)	1080	CFTR	Pathogenic;Uncertain significance	11971167	RCV000046985; RCV000176372; RCV000007584;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0238339,OMIM:167800,SNOMED CT:68072000; MedGen:C0403814,OMIM:277180,ORPHA:48	7	117282582	117282582	NM_000492.3:c.3808G>A	NP_000483.3:p.Asp1270Asn	NC_000007.13:g.117282582G>A,NC_000007.13:g.117282582G>T	OMIM Allelic Variant:602421.0060	C0403814 277180 Congenital bilateral absence of the vas deferens; C0010674 219700 Cystic fibrosis; C0238339 167800 Hereditary pancreatitis
NM_000492.3(CFTR):c.3808G>T (p.Asp1270Tyr)	1080	CFTR	not provided	11971167	RCV000046986;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282582	117282582	NM_000492.3:c.3808G>T	NP_000483.3:p.Asp1270Tyr	NC_000007.13:g.117282582G>A,NC_000007.13:g.117282582G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3816_3817delGT (p.Ser1273Leufs)	1080	CFTR	not provided	397508612	RCV000046988;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282590	117282591	NM_000492.3:c.3816_3817delGT	NP_000483.3:p.Ser1273Leufs	NC_000007.13:g.117282590_117282591delGT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3822G>A (p.Trp1274Ter)	1080	CFTR	not provided	397508613	RCV000046989;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282596	117282596	NM_000492.3:c.3822G>A	NP_000483.3:p.Trp1274Ter	NC_000007.13:g.117282596G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3829delA (p.Ile1277Terfs)	1080	CFTR	not provided	397508614	RCV000046990;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282603	117282603	NM_000492.3:c.3829delA	NP_000483.3:p.Ile1277Terfs	NC_000007.13:g.117282603delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3841C>T (p.Gln1281Ter)	1080	CFTR	not provided	397508615	RCV000046991;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282615	117282615	NM_000492.3:c.3841C>T	NP_000483.3:p.Gln1281Ter	NC_000007.13:g.117282615C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3844T>C (p.Trp1282Arg)	1080	CFTR	not provided	397508616	RCV000046992;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282618	117282618	NM_000492.3:c.3844T>C	NP_000483.3:p.Trp1282Arg	NC_000007.13:g.117282618T>C,NC_000007.13:g.117282618T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3844T>G (p.Trp1282Gly)	1080	CFTR	not provided	397508616	RCV000046993;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282618	117282618	NM_000492.3:c.3844T>G	NP_000483.3:p.Trp1282Gly	NC_000007.13:g.117282618T>C,NC_000007.13:g.117282618T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter)	1080	CFTR	Pathogenic	77010898	RCV000007549;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282620	117282620	NM_000492.3:c.3846G>A	NP_000483.3:p.Trp1282Ter	NC_000007.13:g.117282620G>A	CFTR2:W1282X,OMIM Allelic Variant:602421.0022	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3848G>T (p.Arg1283Met)	1080	CFTR	Pathogenic	77902683	RCV000007587;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282622	117282622	NM_000492.3:c.3848G>T	NP_000483.3:p.Arg1283Met	NC_000007.13:g.117282622G>A,NC_000007.13:g.117282622G>T	OMIM Allelic Variant:602421.0063	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3848G>A (p.Arg1283Lys)	1080	CFTR	not provided	77902683	RCV000046995;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282622	117282622	NM_000492.3:c.3848G>A	NP_000483.3:p.Arg1283Lys	NC_000007.13:g.117282622G>A,NC_000007.13:g.117282622G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3854C>T (p.Ala1285Val)	1080	CFTR	not provided	397508617	RCV000046997;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282628	117282628	NM_000492.3:c.3854C>T	NP_000483.3:p.Ala1285Val	NC_000007.13:g.117282628C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3855delC (p.Phe1286Leufs)	1080	CFTR	not provided	397508618	RCV000046998;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282629	117282629	NM_000492.3:c.3855delC	NP_000483.3:p.Phe1286Leufs	NC_000007.13:g.117282629delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3857T>C (p.Phe1286Ser)	1080	CFTR	Pathogenic	121909028	RCV000007604;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282631	117282631	NM_000492.3:c.3857T>C	NP_000483.3:p.Phe1286Ser	NC_000007.13:g.117282631T>C	OMIM Allelic Variant:602421.0080	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3868C>T (p.Pro1290Ser)	1080	CFTR	not provided	397508619	RCV000047000;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282642	117282642	NM_000492.3:c.3868C>T	NP_000483.3:p.Pro1290Ser	NC_000007.13:g.117282642C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3871C>T (p.Gln1291Ter)	1080	CFTR	not provided	397508620	RCV000047001;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282645	117282645	NM_000492.3:c.3871C>T	NP_000483.3:p.Gln1291Ter	NC_000007.13:g.117282645C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg)	1080	CFTR	not provided	397508621	RCV000047002;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282646	117282646	NM_000492.3:c.3872A>G	NP_000483.3:p.Gln1291Arg	NC_000007.13:g.117282646A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3873G>C (p.Gln1291His)	1080	CFTR	Pathogenic	121909015	RCV000007572;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282647	117282647	NM_000492.3:c.3873G>C	NP_000483.3:p.Gln1291His	NC_000007.13:g.117282647G>C	OMIM Allelic Variant:602421.0048	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3873+1G>A	1080	CFTR	Pathogenic	143570767	RCV000007580;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282648	117282648	NM_000492.3:c.3873+1G>A		NC_000007.13:g.117282648G>A	CFTR2:4005+1G->A,OMIM Allelic Variant:602421.0056	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3873+2T>C	1080	CFTR	not provided	146795445	RCV000047004;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282649	117282649	NM_000492.3:c.3873+2T>C		NC_000007.13:g.117282649T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3873+33A>G	1080	CFTR	not provided	397508622	RCV000047005;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117282680	117282680	NM_000492.3:c.3873+33A>G		NC_000007.13:g.117282680A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3874-19_3874-17delCTT	1080	CFTR	not provided	397508623	RCV000047008;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292877	117292879	NM_000492.3:c.3874-19_3874-17delCTT		NC_000007.13:g.117292877_117292879delCTT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3874-14C>G	1080	CFTR	not provided	184271150	RCV000047007;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292882	117292882	NM_000492.3:c.3874-14C>G		NC_000007.13:g.117292882C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3874-8T>A	1080	CFTR	not provided	397508625	RCV000047011;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292888	117292888	NM_000492.3:c.3874-8T>A		NC_000007.13:g.117292888T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3874-4A>G	1080	CFTR	not provided	201381687	RCV000047010;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292892	117292892	NM_000492.3:c.3874-4A>G		NC_000007.13:g.117292892A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3874-1G>A	1080	CFTR	not provided	397508624	RCV000047009;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292895	117292895	NM_000492.3:c.3874-1G>A		NC_000007.13:g.117292895G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3876delA (p.Val1293Tyrfs)	1080	CFTR	not provided	397508626	RCV000047012;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292898	117292898	NM_000492.3:c.3876delA	NP_000483.3:p.Val1293Tyrfs	NC_000007.13:g.117292898delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3883_3886delATTT (p.Ile1295Phefs)	1080	CFTR	Pathogenic	387906373	RCV000047015;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292905	117292908	NM_000492.3:c.3883_3886delATTT	NP_000483.3:p.Ile1295Phefs	NC_000007.13:g.117292905_117292908delATTT	CFTR2:242,OMIM Allelic Variant:602421.0089	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3883delA (p.Ile1295Phefs)	1080	CFTR	Pathogenic	397508630	RCV000047016;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292905	117292905	NM_000492.3:c.3883delA	NP_000483.3:p.Ile1295Phefs	NC_000007.13:g.117292905delA	CFTR2:214	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3889dupT (p.Ser1297Phefs)	1080	CFTR	Pathogenic	121908808	RCV000047018;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292911	117292911	NM_000492.3:c.3889dupT	NP_000483.3:p.Ser1297Phefs	NC_000007.13:g.117292911dupT	CFTR2:4016insT	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3891dupT (p.Gly1298Trpfs)	1080	CFTR	not provided	397508633	RCV000047020;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292913	117292913	NM_000492.3:c.3891dupT	NP_000483.3:p.Gly1298Trpfs	NC_000007.13:g.117292913dupT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3893G>C (p.Gly1298Ala)	1080	CFTR	Uncertain significance	193922522	RCV000029533;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292915	117292915	NM_000492.3:c.3893G>C	NP_000483.3:p.Gly1298Ala	NC_000007.13:g.117292915G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3896C>T (p.Thr1299Ile)	1080	CFTR	not provided	397508634	RCV000047022;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292918	117292918	NM_000492.3:c.3896C>T	NP_000483.3:p.Thr1299Ile	NC_000007.13:g.117292918C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=)	1080	CFTR	Likely benign;Uncertain significance	1800131	RCV000204557; RCV000079003; RCV000150339;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374; MedGen:CN221809	7	117292919	117292919	NM_000492.3:c.3897A>G	NP_000483.3:p.Thr1299=	NC_000007.13:g.117292919A>G	-	C0010674 219700 Cystic fibrosis; CN221809 not provided; CN169374 not specified
NM_000492.3(CFTR):c.3899dupT (p.Arg1301Terfs)	1080	CFTR	Pathogenic	797045158	RCV000190999;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292921	117292921	NM_000492.3:c.3899dupT	NP_000483.3:p.Arg1301Terfs	NC_000007.13:g.117292921dupT	CFTR2:233	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3907A>C (p.Asn1303His)	1080	CFTR	Pathogenic	121909042	RCV000007639;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292929	117292929	NM_000492.3:c.3907A>C	NP_000483.3:p.Asn1303His	NC_000007.13:g.117292929A>C	OMIM Allelic Variant:602421.0114	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3908A>T (p.Asn1303Ile)	1080	CFTR	not provided	397508636	RCV000047025;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292930	117292930	NM_000492.3:c.3908A>T	NP_000483.3:p.Asn1303Ile	NC_000007.13:g.117292930A>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3908delA (p.Asn1303Thrfs)	1080	CFTR	Pathogenic	397508637	RCV000047026;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292930	117292930	NM_000492.3:c.3908delA	NP_000483.3:p.Asn1303Thrfs	NC_000007.13:g.117292930delA	CFTR2:246	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3908dupA (p.Asn1303Lysfs)	1080	CFTR	not provided	397508638	RCV000047027;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292930	117292930	NM_000492.3:c.3908dupA	NP_000483.3:p.Asn1303Lysfs	NC_000007.13:g.117292930dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys)	1080	CFTR	Pathogenic	80034486	RCV000007556;	Y	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292931	117292931	NM_000492.3:c.3909C>G	NP_000483.3:p.Asn1303Lys	NC_000007.13:g.117292931C>G	CFTR2:N1303K,OMIM Allelic Variant:602421.0032	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3909_3914delCTTGGAinsTGT (p.Leu1304_Asp1305delinsVal)	1080	CFTR	not provided	397508639	RCV000047029;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292931	117292936	NM_000492.3:c.3909_3914delCTTGGAinsTGT	NP_000483.3:p.Leu1304_Asp1305delinsVal	NC_000007.13:g.117292931_117292936delCTTGGAinsTGT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3915T>A (p.Asp1305Glu)	1080	CFTR	not provided	397508640	RCV000047030;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292937	117292937	NM_000492.3:c.3915T>A	NP_000483.3:p.Asp1305Glu	NC_000007.13:g.117292937T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3918C>T (p.Pro1306=)	1080	CFTR	not provided	1800132	RCV000047031;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292940	117292940	NM_000492.3:c.3918C>T	NP_000483.3:p.Pro1306=	NC_000007.13:g.117292940C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3920A>G (p.Tyr1307Cys)	1080	CFTR	not provided	397508641	RCV000047032;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292942	117292942	NM_000492.3:c.3920A>G	NP_000483.3:p.Tyr1307Cys	NC_000007.13:g.117292942A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3921T>A (p.Tyr1307Ter)	1080	CFTR	not provided	397508642	RCV000047033;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292943	117292943	NM_000492.3:c.3921T>A	NP_000483.3:p.Tyr1307Ter	NC_000007.13:g.117292943T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3922G>T (p.Glu1308Ter)	1080	CFTR	not provided	397508643	RCV000047034;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292944	117292944	NM_000492.3:c.3922G>T	NP_000483.3:p.Glu1308Ter	NC_000007.13:g.117292944G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3927G>T (p.Gln1309His)	1080	CFTR	not provided	397508644	RCV000047035;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292949	117292949	NM_000492.3:c.3927G>T	NP_000483.3:p.Gln1309His	NC_000007.13:g.117292949G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3929G>A (p.Trp1310Ter)	1080	CFTR	not provided	397508645	RCV000047036;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292951	117292951	NM_000492.3:c.3929G>A	NP_000483.3:p.Trp1310Ter	NC_000007.13:g.117292951G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3935A>G (p.Asp1312Gly)	1080	CFTR	not provided	397508646	RCV000047037;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292957	117292957	NM_000492.3:c.3935A>G	NP_000483.3:p.Asp1312Gly	NC_000007.13:g.117292957A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3937C>T (p.Gln1313Ter)	1080	CFTR	Pathogenic	121909026	RCV000007600;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292959	117292959	NM_000492.3:c.3937C>T	NP_000483.3:p.Gln1313Ter	NC_000007.13:g.117292959C>A,NC_000007.13:g.117292959C>T	CFTR2:Q1313X,OMIM Allelic Variant:602421.0076	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3937C>A (p.Gln1313Lys)	1080	CFTR	not provided	121909026	RCV000047038;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292959	117292959	NM_000492.3:c.3937C>A	NP_000483.3:p.Gln1313Lys	NC_000007.13:g.117292959C>A,NC_000007.13:g.117292959C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3947G>A (p.Trp1316Ter)	1080	CFTR	Pathogenic	121909010	RCV000007553;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292969	117292969	NM_000492.3:c.3947G>A	NP_000483.3:p.Trp1316Ter	NC_000007.13:g.117292969G>A	OMIM Allelic Variant:602421.0029	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3953T>C (p.Val1318Ala)	1080	CFTR	not provided	397508648	RCV000047042;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292975	117292975	NM_000492.3:c.3953T>C	NP_000483.3:p.Val1318Ala	NC_000007.13:g.117292975T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3956C>A (p.Ala1319Glu)	1080	CFTR	not provided	397508649	RCV000047043;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292978	117292978	NM_000492.3:c.3956C>A	NP_000483.3:p.Ala1319Glu	NC_000007.13:g.117292978C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3957_3958insAGGG (p.Asp1320Argfs)	1080	CFTR	Likely pathogenic	193922523	RCV000029534;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292979	117292980	NM_000492.3:c.3957_3958insAGGG	NP_000483.3:p.Asp1320Argfs	NC_000007.13:g.117292979_117292980insAGGG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3963+1G>A	1080	CFTR	Pathogenic	672601314	RCV000149421;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292986	117292986	NM_000492.3:c.3963+1G>A		NC_000007.13:g.117292986G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3963+2T>A	1080	CFTR	not provided	397508650	RCV000047045;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117292987	117292987	NM_000492.3:c.3963+2T>A		NC_000007.13:g.117292987T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3964-78_4242+577del	1080	CFTR	Pathogenic	-1	RCV000056389;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304664	117306195	NM_000492.3:c.3964-78_4242+577del			CFTR2:CFTRdele22,23,dbVar:nssv7487040,dbVar:nsv1197451	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3964-28G>A	1080	CFTR	not provided	397508651	RCV000047046;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304714	117304714	NM_000492.3:c.3964-28G>A		NC_000007.13:g.117304714G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3964-3C>G	1080	CFTR	not provided	397508652	RCV000047047;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304739	117304739	NM_000492.3:c.3964-3C>G		NC_000007.13:g.117304739C>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3971T>C (p.Leu1324Pro)	1080	CFTR	not provided	397508653	RCV000047048;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304749	117304749	NM_000492.3:c.3971T>C	NP_000483.3:p.Leu1324Pro	NC_000007.13:g.117304749T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3976delT (p.Ser1326Leufs)	1080	CFTR	not provided	397508654	RCV000047049;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304754	117304754	NM_000492.3:c.3976delT	NP_000483.3:p.Ser1326Leufs	NC_000007.13:g.117304754delT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3982_3984delATAinsTT (p.Ile1328Leufs)	1080	CFTR	not provided	397508655	RCV000047050;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304760	117304762	NM_000492.3:c.3982_3984delATAinsTT	NP_000483.3:p.Ile1328Leufs	NC_000007.13:g.117304760_117304762delATAinsTT	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3985G>C (p.Glu1329Gln)	1080	CFTR	not provided	397508656	RCV000047051;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304763	117304763	NM_000492.3:c.3985G>C	NP_000483.3:p.Glu1329Gln	NC_000007.13:g.117304763G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.3997G>T (p.Gly1333Trp)	1080	CFTR	Likely pathogenic	193922524	RCV000029535;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304775	117304775	NM_000492.3:c.3997G>T	NP_000483.3:p.Gly1333Trp	NC_000007.13:g.117304775G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4003C>T (p.Leu1335Phe)	1080	CFTR	not provided	145545286	RCV000047054;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304781	117304781	NM_000492.3:c.4003C>T	NP_000483.3:p.Leu1335Phe	NC_000007.13:g.117304781C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4004T>C (p.Leu1335Pro)	1080	CFTR	not provided	397508658	RCV000047055;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304782	117304782	NM_000492.3:c.4004T>C	NP_000483.3:p.Leu1335Pro	NC_000007.13:g.117304782T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4009T>G (p.Phe1337Val)	1080	CFTR	not provided	397508659	RCV000047056;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304787	117304787	NM_000492.3:c.4009T>G	NP_000483.3:p.Phe1337Val	NC_000007.13:g.117304787T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4015C>T (p.Leu1339Phe)	1080	CFTR	not provided	397508660	RCV000047057;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304793	117304793	NM_000492.3:c.4015C>T	NP_000483.3:p.Leu1339Phe	NC_000007.13:g.117304793C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4025_4028dupGGGG (p.Cys1344Glyfs)	1080	CFTR	not provided	397508661	RCV000047058;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304803	117304806	NM_000492.3:c.4025_4028dupGGGG	NP_000483.3:p.Cys1344Glyfs	NC_000007.13:g.117304803_117304806dupGGGG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4036_4042delCTAAGCC (p.Leu1346Metfs)	1080	CFTR	not provided	397508662	RCV000047059;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304814	117304820	NM_000492.3:c.4036_4042delCTAAGCC	NP_000483.3:p.Leu1346Metfs	NC_000007.13:g.117304814_117304820delCTAAGCC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4039dupA (p.Ser1347Lysfs)	1080	CFTR	not provided	397508663	RCV000047060;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304817	117304817	NM_000492.3:c.4039dupA	NP_000483.3:p.Ser1347Lysfs	NC_000007.13:g.117304817dupA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4040_4041delGC (p.Ser1347Thrfs)	1080	CFTR	not provided	397508664	RCV000047061;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304818	117304819	NM_000492.3:c.4040_4041delGC	NP_000483.3:p.Ser1347Thrfs	NC_000007.13:g.117304818_117304819delGC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4042delC (p.His1348Metfs)	1080	CFTR	not provided	397508665	RCV000047062;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304820	117304820	NM_000492.3:c.4042delC	NP_000483.3:p.His1348Metfs	NC_000007.13:g.117304820delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4045G>A (p.Gly1349Ser)	1080	CFTR	not provided	201686600	RCV000047063;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304823	117304823	NM_000492.3:c.4045G>A	NP_000483.3:p.Gly1349Ser	NC_000007.13:g.117304823G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4046G>A (p.Gly1349Asp)	1080	CFTR	Pathogenic;drug response	193922525	RCV000029536; RCV000211255;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN236562	7	117304824	117304824	NM_000492.3:c.4046G>A	NP_000483.3:p.Gly1349Asp	NC_000007.13:g.117304824G>A	CFTR2:169,PharmGKB Clinical Annotation:1183960790,PharmGKB:1183960790	C0010674 219700 Cystic fibrosis; CN236562 ivacaftor response - Efficacy
NM_000492.3(CFTR):c.4051A>G (p.Lys1351Glu)	1080	CFTR	not provided	397508666	RCV000047065;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304829	117304829	NM_000492.3:c.4051A>G	NP_000483.3:p.Lys1351Glu	NC_000007.13:g.117304829A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His)	1080	CFTR	Pathogenic	113857788	RCV000007659;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304834	117304834	NM_000492.3:c.4056G>C	NP_000483.3:p.Gln1352His	NC_000007.13:g.117304834G>C,NC_000007.13:g.117304834G>T	OMIM Allelic Variant:602421.0133	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4071_4073delTAGinsAA (p.Arg1358Asnfs)	1080	CFTR	not provided	397508667	RCV000047067;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304849	117304851	NM_000492.3:c.4071_4073delTAGinsAA	NP_000483.3:p.Arg1358Asnfs	NC_000007.13:g.117304849_117304851delTAGinsAA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4077_4080delTGTTinsAA (p.Val1360Thrfs)	1080	CFTR	Pathogenic	397508668	RCV000056390;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304855	117304858	NM_000492.3:c.4077_4080delTGTTinsAA	NP_000483.3:p.Val1360Thrfs	NC_000007.13:g.117304855_117304858delTGTTinsAA	CFTR2:4209TGTT->AA	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4086dupT (p.Lys1363Terfs)	1080	CFTR	Pathogenic	397508669	RCV000047069;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304864	117304864	NM_000492.3:c.4086dupT	NP_000483.3:p.Lys1363Terfs	NC_000007.13:g.117304864dupT	CFTR2:267	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4091C>T (p.Ala1364Val)	1080	CFTR	not provided	397508670	RCV000047070;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304869	117304869	NM_000492.3:c.4091C>T	NP_000483.3:p.Ala1364Val	NC_000007.13:g.117304869C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4092G>A (p.Ala1364=)	1080	CFTR	Likely benign	148878126	RCV000029538;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304870	117304870	NM_000492.3:c.4092G>A	NP_000483.3:p.Ala1364=	NC_000007.13:g.117304870G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4111G>T (p.Glu1371Ter)	1080	CFTR	Pathogenic	397508675	RCV000047076;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304889	117304889	NM_000492.3:c.4111G>T	NP_000483.3:p.Glu1371Ter	NC_000007.13:g.117304889G>T	CFTR2:207	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4114C>A (p.Pro1372Thr)	1080	CFTR	not provided	397508676	RCV000047077;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304892	117304892	NM_000492.3:c.4114C>A	NP_000483.3:p.Pro1372Thr	NC_000007.13:g.117304892C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4115C>T (p.Pro1372Leu)	1080	CFTR	not provided	397508677	RCV000047078;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304893	117304893	NM_000492.3:c.4115C>T	NP_000483.3:p.Pro1372Leu	NC_000007.13:g.117304893C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4123C>A (p.His1375Asn)	1080	CFTR	not provided	146947665	RCV000047079;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304901	117304901	NM_000492.3:c.4123C>A	NP_000483.3:p.His1375Asn	NC_000007.13:g.117304901C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4124A>C (p.His1375Pro)	1080	CFTR	not provided	397508678	RCV000047080;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304902	117304902	NM_000492.3:c.4124A>C	NP_000483.3:p.His1375Pro	NC_000007.13:g.117304902A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4129G>C (p.Asp1377His)	1080	CFTR	not provided	150683293	RCV000047081;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117304907	117304907	NM_000492.3:c.4129G>C	NP_000483.3:p.Asp1377His	NC_000007.13:g.117304907G>A,NC_000007.13:g.117304907G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4139delC (p.Thr1380Asnfs)	1080	CFTR	not provided	397508680	RCV000047083;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305515	117305515	NM_000492.3:c.4139delC	NP_000483.3:p.Thr1380Asnfs	NC_000007.13:g.117305515delC	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4140delA (p.Tyr1381Thrfs)	1080	CFTR	not provided	397508681	RCV000047084;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305516	117305516	NM_000492.3:c.4140delA	NP_000483.3:p.Tyr1381Thrfs	NC_000007.13:g.117305516delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4141T>C (p.Tyr1381His)	1080	CFTR	not provided	397508682	RCV000047085;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305517	117305517	NM_000492.3:c.4141T>C	NP_000483.3:p.Tyr1381His	NC_000007.13:g.117305517T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4143C>A (p.Tyr1381Ter)	1080	CFTR	not provided	397508683	RCV000047086;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305519	117305519	NM_000492.3:c.4143C>A	NP_000483.3:p.Tyr1381Ter	NC_000007.13:g.117305519C>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4144C>T (p.Gln1382Ter)	1080	CFTR	Pathogenic	397508684	RCV000047087;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305520	117305520	NM_000492.3:c.4144C>T	NP_000483.3:p.Gln1382Ter	NC_000007.13:g.117305520C>T	CFTR2:263	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4147dupA (p.Ile1383Asnfs)	1080	CFTR	Pathogenic	397508685	RCV000047088;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305523	117305523	NM_000492.3:c.4147dupA	NP_000483.3:p.Ile1383Asnfs	NC_000007.13:g.117305523dupA	CFTR2:270	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4163T>A (p.Leu1388Gln)	1080	CFTR	not provided	397508688	RCV000047092;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305539	117305539	NM_000492.3:c.4163T>A	NP_000483.3:p.Leu1388Gln	NC_000007.13:g.117305539T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4168C>T (p.Gln1390Ter)	1080	CFTR	not provided	397508689	RCV000047093;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305544	117305544	NM_000492.3:c.4168C>T	NP_000483.3:p.Gln1390Ter	NC_000007.13:g.117305544C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4170delA (p.Ala1391Hisfs)	1080	CFTR	not provided	397508690	RCV000047096;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305546	117305546	NM_000492.3:c.4170delA	NP_000483.3:p.Ala1391Hisfs	NC_000007.13:g.117305546delA	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4190T>A (p.Val1397Glu)	1080	CFTR	not provided	397508691	RCV000047098;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305566	117305566	NM_000492.3:c.4190T>A	NP_000483.3:p.Val1397Glu	NC_000007.13:g.117305566T>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4193T>G (p.Ile1398Ser)	1080	CFTR	not provided	397508692	RCV000047099;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305569	117305569	NM_000492.3:c.4193T>G	NP_000483.3:p.Ile1398Ser	NC_000007.13:g.117305569T>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4196_4197delTC (p.Cys1400Terfs)	1080	CFTR	Pathogenic	397508693	RCV000047100;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305572	117305573	NM_000492.3:c.4196_4197delTC	NP_000483.3:p.Cys1400Terfs	NC_000007.13:g.117305572_117305573delTC	CFTR2:185	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4200_4201delTG (p.Cys1400Terfs)	1080	CFTR	not provided	397508695	RCV000047102;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305576	117305577	NM_000492.3:c.4200_4201delTG	NP_000483.3:p.Cys1400Terfs	NC_000007.13:g.117305576_117305577delTG	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4201G>A (p.Glu1401Lys)	1080	CFTR	not provided	397508696	RCV000047103;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305577	117305577	NM_000492.3:c.4201G>A	NP_000483.3:p.Glu1401Lys	NC_000007.13:g.117305577G>A,NC_000007.13:g.117305577G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4201G>T (p.Glu1401Ter)	1080	CFTR	not provided	397508696	RCV000047104;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305577	117305577	NM_000492.3:c.4201G>T	NP_000483.3:p.Glu1401Ter	NC_000007.13:g.117305577G>A,NC_000007.13:g.117305577G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4202A>C (p.Glu1401Ala)	1080	CFTR	not provided	397508697	RCV000047105;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305578	117305578	NM_000492.3:c.4202A>C	NP_000483.3:p.Glu1401Ala	NC_000007.13:g.117305578A>C,NC_000007.13:g.117305578A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4202A>G (p.Glu1401Gly)	1080	CFTR	not provided	397508697	RCV000047106;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305578	117305578	NM_000492.3:c.4202A>G	NP_000483.3:p.Glu1401Gly	NC_000007.13:g.117305578A>C,NC_000007.13:g.117305578A>G	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4225G>A (p.Glu1409Lys)	1080	CFTR	not provided	397508699	RCV000047108;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305601	117305601	NM_000492.3:c.4225G>A	NP_000483.3:p.Glu1409Lys	NC_000007.13:g.117305601G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4231C>T (p.Gln1411Ter)	1080	CFTR	Pathogenic	397508701	RCV000047110;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305607	117305607	NM_000492.3:c.4231C>T	NP_000483.3:p.Gln1411Ter	NC_000007.13:g.117305607C>T	CFTR2:260	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4234C>T (p.Gln1412Ter)	1080	CFTR	Pathogenic	397508702	RCV000047111;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305610	117305610	NM_000492.3:c.4234C>T	NP_000483.3:p.Gln1412Ter	NC_000007.13:g.117305610C>T	CFTR2:217	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4241T>C (p.Leu1414Ser)	1080	CFTR	not provided	397508703	RCV000047112;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305617	117305617	NM_000492.3:c.4241T>C	NP_000483.3:p.Leu1414Ser	NC_000007.13:g.117305617T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4242+1G>A	1080	CFTR	not provided	372227120	RCV000047114;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305619	117305619	NM_000492.3:c.4242+1G>A		NC_000007.13:g.117305619G>A,NC_000007.13:g.117305619G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4242+1G>T	1080	CFTR	Pathogenic	372227120	RCV000047115;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305619	117305619	NM_000492.3:c.4242+1G>T		NC_000007.13:g.117305619G>A,NC_000007.13:g.117305619G>T	CFTR2:173	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4242+2T>C	1080	CFTR	Likely pathogenic	193922526	RCV000029539;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117305620	117305620	NM_000492.3:c.4242+2T>C		NC_000007.13:g.117305620T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4242+10T>C	1080	CFTR	Benign	138642693	RCV000047113; RCV000079004;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117305628	117305628	NM_000492.3:c.4242+10T>C		NC_000007.13:g.117305628T>C	HGMD:CS983590	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.4243-2A>C	1080	CFTR	not provided	397508705	RCV000047117;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117306960	117306960	NM_000492.3:c.4243-2A>C		NC_000007.13:g.117306960A>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4243-1G>C	1080	CFTR	not provided	397508704	RCV000047116;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117306961	117306961	NM_000492.3:c.4243-1G>C		NC_000007.13:g.117306961G>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4251delA (p.Glu1418Argfs)	1080	CFTR	Pathogenic	397508706	RCV000056391;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117306970	117306970	NM_000492.3:c.4251delA	NP_000483.3:p.Glu1418Argfs	NC_000007.13:g.117306970delA	CFTR2:4382delA	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4252G>T (p.Glu1418Ter)	1080	CFTR	not provided	397508707	RCV000047120;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117306971	117306971	NM_000492.3:c.4252G>T	NP_000483.3:p.Glu1418Ter	NC_000007.13:g.117306971G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4264C>T (p.Arg1422Trp)	1080	CFTR	not provided	373172017	RCV000047121;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117306983	117306983	NM_000492.3:c.4264C>T	NP_000483.3:p.Arg1422Trp	NC_000007.13:g.117306983C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4272C>T (p.Tyr1424=)	1080	CFTR	Benign	1800135	RCV000203821; RCV000079006;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN169374	7	117306991	117306991	NM_000492.3:c.4272C>T	NP_000483.3:p.Tyr1424=	NC_000007.13:g.117306991C>T	-	C0010674 219700 Cystic fibrosis; CN169374 not specified
NM_000492.3(CFTR):c.4276T>C (p.Ser1426Pro)	1080	CFTR	not provided	397508708	RCV000047123;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117306995	117306995	NM_000492.3:c.4276T>C	NP_000483.3:p.Ser1426Pro	NC_000007.13:g.117306995T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4280T>C (p.Ile1427Thr)	1080	CFTR	Likely pathogenic	193922528	RCV000029541;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117306999	117306999	NM_000492.3:c.4280T>C	NP_000483.3:p.Ile1427Thr	NC_000007.13:g.117306999T>C	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4296_4297insGA (p.Ser1435Glyfs)	1080	CFTR	Pathogenic	397508709	RCV000047124;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117307015	117307016	NM_000492.3:c.4296_4297insGA	NP_000483.3:p.Ser1435Glyfs	NC_000007.13:g.117307015_117307016insGA	CFTR2:205	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4312C>T (p.Arg1438Trp)	1080	CFTR	not provided	397508711	RCV000047127;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117307031	117307031	NM_000492.3:c.4312C>T	NP_000483.3:p.Arg1438Trp	NC_000007.13:g.117307031C>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4333G>A (p.Asp1445Asn)	1080	CFTR	not provided	148783445	RCV000047128;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117307052	117307052	NM_000492.3:c.4333G>A	NP_000483.3:p.Asp1445Asn	NC_000007.13:g.117307052G>A	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4364C>G (p.Ser1455Ter)	1080	CFTR	Pathogenic	121909043	RCV000047130; RCV000007644;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C4016791	7	117307083	117307083	NM_000492.3:c.4364C>G	NP_000483.3:p.Ser1455Ter	NC_000007.13:g.117307083C>G	OMIM Allelic Variant:602421.0119	C0010674 219700 Cystic fibrosis; C4016791 Sweat chloride elevation without cystic fibrosis
NM_000492.3(CFTR):c.4417G>T (p.Glu1473Ter)	1080	CFTR	not provided	397508716	RCV000047134;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117307136	117307136	NM_000492.3:c.4417G>T	NP_000483.3:p.Glu1473Ter	NC_000007.13:g.117307136G>T	-	C0010674 219700 Cystic fibrosis
NM_000492.3(CFTR):c.4426C>T (p.Gln1476Ter)	1080	CFTR	Pathogenic	374705585	RCV000047135; RCV000079008;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117307145	117307145	NM_000492.3:c.4426C>T	NP_000483.3:p.Gln1476Ter	NC_000007.13:g.117307145C>T	HGMD:CM993877	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.*2G>A	1080	CFTR	Uncertain significance	150914702	RCV000046187; RCV000176720;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:CN221809	7	117307164	117307164	NM_000492.3:c.*2G>A		NC_000007.13:g.117307164G>A	-	C0010674 219700 Cystic fibrosis; CN221809 not provided
NM_000492.3(CFTR):c.*80T>G	1080	CFTR	not provided	397508135	RCV000046188;	N	MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008	7	117307242	117307242	NM_000492.3:c.*80T>G		NC_000007.13:g.117307242T>G	-	C0010674 219700 Cystic fibrosis
NM_000660.5(TGFB1):c.29C>T (p.Pro10Leu)	7040	TGFB1	Benign;risk factor	1800470	RCV000013360; RCV000032141; RCV000013361;	N	; MedGen:C0010674,OMIM:219700,ORPHA:586,SNOMED CT:190905008; MedGen:C0011989,OMIM:131300,ORPHA:1328,SNOMED CT:34643004	19	41858921	41858921	NM_000660.5:c.29C>T	NP_000651.3:p.Pro10Leu	NC_000019.9:g.41858921G>A	OMIM Allelic Variant:190180.0007	C0010674 219700 Cystic fibrosis; C0011989 131300 Diaphyseal dysplasia