Tag | Content |
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UniProt Accession | CFTR_HUMAN; P13569; |
Entrez ID | 1080 |
GenBank Protein ID | |
GenBank Nucleotide ID | |
Protein Name | Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP-binding cassette sub-family C member 7) (Channel conductance-controlling ATPase) (EC 3.6.3.49) (cAMP-dependent chloride channel) |
Gene Name | CFTR; ABCC7 |
Organism | Homo sapiens |
NCBI Taxa ID | 9606 |
Functional Description | Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to (view all)Functional Description Epithelial ion channel that plays an important role in the regulation of epithelial ion and water transport and fluid homeostasis (PubMed:26823428). Mediates the transport of chloride ions across the cell membrane (PubMed:10792060, PubMed:11524016, PubMed:11707463, PubMed:12519745, PubMed:15010471, PubMed:12588899, PubMed:17036051, PubMed:19398555, PubMed:19621064, PubMed:22178883, PubMed:25330774, PubMed:1712898, PubMed:8910473, PubMed:9804160, PubMed:12529365, PubMed:17182731, PubMed:26846474, PubMed:28087700). Channel activity is coupled to ATP hydrolysis (PubMed:8910473). The ion channel is also permeable to HCO(3-); selectivity depends on the extracellular chloride concentration (PubMed:15010471, PubMed:19019741). Exerts its function also by modulating the activity of other ion channels and transporters (PubMed:12403779, PubMed:22178883, PubMed:22121115, PubMed:27941075). Plays an important role in airway fluid homeostasis (PubMed:16645176, PubMed:19621064, PubMed:26823428). Contributes to the regulation of the pH and the ion content of the airway surface fluid layer and thereby plays an important role in defense against pathogens (PubMed:14668433, PubMed:16645176, PubMed:26823428). Modulates the activity of the epithelial sodium channel (ENaC) complex, in part by regulating the cell surface expression of the ENaC complex (PubMed:17434346, PubMed:27941075, PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:17182731). Inhibits the activity of the ENaC channel containing subunits SCNN1D, SCNN1B and SCNN1G, but not of the ENaC channel containing subunits SCNN1A, SCNN1B and SCNN1G (PubMed:27941075). May regulate bicarbonate secretion and salvage in epithelial cells by regulating the transporter SLC4A7 (PubMed:12403779). Can inhibit the chloride channel activity of ANO1 (PubMed:22178883). Plays a role in the chloride and bicarbonate homeostasis during sperm epididymal maturation and capacitation (PubMed:19923167, PubMed:27714810). |
Sequence (Fasta) | MQRSPLEKAS VVSKLFFSWT RPILRKGYRQ RLELSDIYQI PSVDSADNLS EKLEREWDRE 60 LASKKNPKLI NALRRCFFWR FMFYGIFLYL GEVTKAVQPL LLGRIIASYD PDNKEERSIA 120 IYLGIGLCLL FIVRTLLLHP AIFGLHHIGM QMRIAMFSLI YKKTLKLSSR VLDKISIGQL 180 VSLLSNNLNK FDEGLALAHF VWIAPLQVAL LMGLIWELLQ ASAFCGLGFL IVLALFQAGL 240 GRMMMKYRDQ RAGKISERLV ITSEMIENIQ SVKAYCWEEA MEKMIENLRQ TELKLTRKAA 300 YVRYFNSSAF FFSGFFVVFL SVLPYALIKG IILRKIFTTI SFCIVLRMAV TRQFPWAVQT 360 WYDSLGAINK IQDFLQKQEY KTLEYNLTTT EVVMENVTAF WEEGFGELFE KAKQNNNNRK 420 TSNGDDSLFF SNFSLLGTPV LKDINFKIER GQLLAVAGST GAGKTSLLMV IMGELEPSEG 480 KIKHSGRISF CSQFSWIMPG TIKENIIFGV SYDEYRYRSV IKACQLEEDI SKFAEKDNIV 540 LGEGGITLSG GQRARISLAR AVYKDADLYL LDSPFGYLDV LTEKEIFESC VCKLMANKTR 600 ILVTSKMEHL KKADKILILH EGSSYFYGTF SELQNLQPDF SSKLMGCDSF DQFSAERRNS 660 ILTETLHRFS LEGDAPVSWT ETKKQSFKQT GEFGEKRKNS ILNPINSIRK FSIVQKTPLQ 720 MNGIEEDSDE PLERRLSLVP DSEQGEAILP RISVISTGPT LQARRRQSVL NLMTHSVNQG 780 QNIHRKTTAS TRKVSLAPQA NLTELDIYSR RLSQETGLEI SEEINEEDLK ECFFDDMESI 840 PAVTTWNTYL RYITVHKSLI FVLIWCLVIF LAEVAASLVV LWLLGNTPLQ DKGNSTHSRN 900 NSYAVIITST SSYYVFYIYV GVADTLLAMG FFRGLPLVHT LITVSKILHH KMLHSVLQAP 960 MSTLNTLKAG GILNRFSKDI AILDDLLPLT IFDFIQLLLI VIGAIAVVAV LQPYIFVATV 1020 PVIVAFIMLR AYFLQTSQQL KQLESEGRSP IFTHLVTSLK GLWTLRAFGR QPYFETLFHK 1080 ALNLHTANWF LYLSTLRWFQ MRIEMIFVIF FIAVTFISIL TTGEGEGRVG IILTLAMNIM 1140 STLQWAVNSS IDVDSLMRSV SRVFKFIDMP TEGKPTKSTK PYKNGQLSKV MIIENSHVKK 1200 DDIWPSGGQM TVKDLTAKYT EGGNAILENI SFSISPGQRV GLLGRTGSGK STLLSAFLRL 1260 LNTEGEIQID GVSWDSITLQ QWRKAFGVIP QKVFIFSGTF RKNLDPYEQW SDQEIWKVAD 1320 EVGLRSVIEQ FPGKLDFVLV DGGCVLSHGH KQLMCLARSV LSKAKILLLD EPSAHLDPVT 1380 YQIIRRTLKQ AFADCTVILC EHRIEAMLEC QQFLVIEENK VRQYDSIQKL LNERSLFRQA 1440 ISPSDRVKLF PHRNSSKCKS KPQIAALKEE TEEEVQDTRL 1481 Fasta Sequence>P13569|CFTR; ABCC7|Homo sapiens (Human) MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCGLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFLQKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTRILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDAPVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILPRISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEINEEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRNNSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNRFSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEGEGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWDSITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGHKQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYDSIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL |
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Database | Annotation |
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CTD (Curated) (count: 15) (view all) | MESH:D053713
; Azoospermia MESH:C567618 ; Bronchiectasis With Or Without Elevated Sweat Chloride 1 MESH:D015529 ; Choledochal Cyst MESH:D015179 ; Colorectal Neoplasms MESH:C535984 ; Congenital bilateral aplasia of vas deferens MESH:D003550 ; Cystic Fibrosis MESH:C537262
; Hereditary pancreatitis MESH:D006548 ; Hernia, Diaphragmatic MESH:D007248 ; Infertility, Male MESH:D010195 ; Pancreatitis MESH:D050500 ; Pancreatitis, Chronic MESH:D017044 ; Polycystic Kidney, Autosomal Recessive MESH:D012220 ; Rhinitis MESH:D012852 ; Sinusitis MESH:D019966 ; Substance-Related Disorders |
DisGeNet (Curated) (count: 51) (view all) | C0001973; Alcoholic Intoxication, Chronic
C0004096; Asthma C0004509; Azoospermia C0006267; Bronchiectasis C0008312; Primary biliary cirrhosis C0008340; Choledochal Cyst C0009404; Colorectal Neoplasms
C0010674; Cystic Fibrosis C0019284; Diaphragmatic Hernia C0020438; Hypercalciuria C0021051; Immunologic Deficiency Syndromes C0021364; Male infertility C0023892; Biliary cirrhosis C0030293; Pancreatic Insufficiency C0030305; Pancreatitis C0034069; Pulmonary Fibrosis C0034072; Cor pulmonale C0034888; Rectal Prolapse C0035455; Rhinitis C0037199; Sinusitis C0085548; Autosomal Recessive Polycystic Kidney Disease C0086438; Hypogammaglobulinemia C0149521; Pancreatitis, Chronic C0231246; Failure to gain weight C0236969; Substance-Related Disorders C0238339; Hereditary pancreatitis C0241355; Small testicle C0266444; Congenital absence of vas deferens C0267963; Exocrine pancreatic insufficiency C0339985; Idiopathic bronchiectasis C0398349; Distal intestinal obstruction syndrome C0403814; Congenital bilateral aplasia of vas deferens C0694550; Recurrent pneumonia C0746102; Chronic lung disease C0748140; Multiple pulmonary infections C0876973; Infectious disease of lung C1856646; Elevated sweat chloride C1859117; Recurrent pulmonary infections C1862265; Elevated gonadotropins C2169795; Recurrent bronchopulmonary infections C2315100; Pediatric failure to thrive C2749757; BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1 C2939175; Meconium ileus C3553397; Meconium ileus on ultrasonography C3714497; Reactive airway disease C3714745; Malabsorption C3806482; Recurrent respiratory infections C4020899; Autosomal recessive predisposition C4021107; Non-obstructive azoospermia C4023106; Obstructive azoospermia C4048270; Decreased antibody level in blood |
HGMD (count: 1469) (view all) | CE054638; Typhoid fever, prot. against, association with; Repeat variations
CE952227; Congenital absence of vas deferens, association; Repeat variations CE086595; Infertility ; Repeat variations CE032535; Bronchiectasis, idiopathic, association with; Repeat variations CE050520; Congenital absence of vas deferens; Repeat variations CE984225; Phenotype modifier, association with; Repeat variations CP984528; Cystic fibrosis; Complex rearrangements
CP066520; Cystic fibrosis; Complex rearrangements CP086644; Cystic fibrosis; Complex rearrangements CP086639; Cystic fibrosis; Complex rearrangements CP086640; Cystic fibrosis; Complex rearrangements CP062363; Cystic fibrosis; Complex rearrangements CP931368; Cystic fibrosis; Complex rearrangements CP044500; Cystic fibrosis; Complex rearrangements CP044501; Cystic fibrosis; Complex rearrangements CP044502; Cystic fibrosis; Complex rearrangements CP044503; Cystic fibrosis; Complex rearrangements CP067953; Cystic fibrosis; Complex rearrangements CP062364; Cystic fibrosis; Complex rearrangements CP052787; Cystic fibrosis; Complex rearrangements CP062365; Cystic fibrosis; Complex rearrangements CP044842; Congenital absence of vas deferens; Complex rearrangements CP073937; Cystic fibrosis; Complex rearrangements CP073938; Cystic fibrosis; Complex rearrangements CP044504; Cystic fibrosis; Complex rearrangements CP084616; Cystic fibrosis; Complex rearrangements CP052788; Cystic fibrosis; Complex rearrangements CP044505; Cystic fibrosis; Complex rearrangements CP015767; Cystic fibrosis; Complex rearrangements CP044506; Cystic fibrosis; Complex rearrangements CD890142; Cystic fibrosis; Small deletions CD920846; Cystic fibrosis; Small deletions CD910494; Cystic fibrosis; Small deletions CD010599; Cystic fibrosis; Small deletions CD983597; Cystic fibrosis; Small deletions CD962514; Cystic fibrosis; Small deletions CD043669; Cystic fibrosis; Small deletions CD972128; Cystic fibrosis; Small deletions CD920849; Cystic fibrosis; Small deletions CD991667; Cystic fibrosis; Small deletions CD972123; Cystic fibrosis; Small deletions CD993893; Cystic fibrosis; Small deletions CD034851; Cystic fibrosis; Small deletions CD064527; Cystic fibrosis; Small deletions CD962508; Cystic fibrosis; Small deletions CD000926; Cystic fibrosis; Small deletions CD992497; Cystic fibrosis; Small deletions CD067855; Cystic fibrosis; Small deletions CD910488; Cystic fibrosis; Small deletions CD972972; Cystic fibrosis; Small deletions CD941632; Cystic fibrosis; Small deletions CD942005; Cystic fibrosis; Small deletions CD015372; Cystic fibrosis; Small deletions CD920848; Cystic fibrosis; Small deletions CD993894; Pancreatitis, idiopathic; Small deletions CD983602; Cystic fibrosis; Small deletions CD900275; Cystic fibrosis; Small deletions CD993891; Cystic fibrosis; Small deletions CD962511; Cystic fibrosis; Small deletions CD962507; Cystic fibrosis; Small deletions CD920991; Cystic fibrosis; Small deletions CD930928; Cystic fibrosis; Small deletions CD961884; Cystic fibrosis; Small deletions CD972124; Cystic fibrosis; Small deletions CD930926; Cystic fibrosis; Small deletions CD983607; Cystic fibrosis; Small deletions CD024716; Cystic fibrosis; Small deletions CD931170; Cystic fibrosis; Small deletions CD003290; Cystic fibrosis; Small deletions CD910601; Cystic fibrosis ?; Small deletions CD003292; Cystic fibrosis; Small deletions CD920989; Cystic fibrosis; Small deletions CD952064; Cystic fibrosis; Small deletions CD962509; Cystic fibrosis; Small deletions CD972973; Cystic fibrosis; Small deletions CD067856; Cystic fibrosis; Small deletions CD931166; Cystic fibrosis; Small deletions CD910490; Cystic fibrosis; Small deletions CD930922; Cystic fibrosis; Small deletions CD930919; Cystic fibrosis; Small deletions CD993888; Cystic fibrosis; Small deletions CD941997; Cystic fibrosis; Small deletions CD930924; Cystic fibrosis; Small deletions CD920845; Cystic fibrosis; Small deletions CD931169; Cystic fibrosis; Small deletions CD930920; Cystic fibrosis; Small deletions CD920990; Cystic fibrosis; Small deletions CD920839; Cystic fibrosis; Small deletions CD057606; Cystic fibrosis; Small deletions CD972971; Cystic fibrosis; Small deletions CD941638; Cystic fibrosis; Small deletions CD067857; Cystic fibrosis; Small deletions CD952066; Cystic fibrosis; Small deletions CD941637; Cystic fibrosis; Small deletions CD992496; Cystic fibrosis; Small deletions CD942000; Cystic fibrosis; Small deletions CD962516; Cystic fibrosis; Small deletions CD055648; Cystic fibrosis; Small deletions CD910492; Cystic fibrosis; Small deletions CD067858; Cystic fibrosis; Small deletions CD983604; Cystic fibrosis; Small deletions CD930925; Cystic fibrosis; Small deletions CD067859; Bronchiectasis; Small deletions CD972130; Cystic fibrosis; Small deletions CD920844; Cystic fibrosis; Small deletions CD962506; Cystic fibrosis; Small deletions CD920850; Cystic fibrosis; Small deletions CD952067; Cystic fibrosis; Small deletions CD920841; Cystic fibrosis; Small deletions CD983601; Cystic fibrosis; Small deletions CD920847; Cystic fibrosis; Small deletions CD920842; Cystic fibrosis; Small deletions CD941642; Cystic fibrosis; Small deletions CD930921; Cystic fibrosis; Small deletions CD920843; Cystic fibrosis; Small deletions CD910491; Cystic fibrosis; Small deletions CD067860; Cystic fibrosis; Small deletions CD942003; Cystic fibrosis; Small deletions CD056142; Cystic fibrosis; Small deletions CD941634; Cystic fibrosis; Small deletions CD951653; Cystic fibrosis; Small deletions CD942001; Cystic fibrosis; Small deletions CD067861; Cystic fibrosis; Small deletions CD982536; Cystic fibrosis; Small deletions CD000474; Cystic fibrosis; Small deletions CD941640; Cystic fibrosis; Small deletions CD931168; Cystic fibrosis; Small deletions CD983598; Cystic fibrosis; Small deletions CD983605; Cystic fibrosis; Small deletions CD024717; Congenital absence of vas deferens; Small deletions CD951655; Cystic fibrosis; Small deletions CD920840; Cystic fibrosis; Small deletions CD931165; Cystic fibrosis; Small deletions CD003291; Cystic fibrosis; Small deletions CD972975; Cystic fibrosis; Small deletions CD972127; Cystic fibrosis; Small deletions CD031826; Cystic fibrosis; Small deletions CD983600; Cystic fibrosis; Small deletions CD972131; Cystic fibrosis; Small deletions CD962512; Cystic fibrosis; Small deletions CD972122; Cystic fibrosis; Small deletions CD983603; Cystic fibrosis; Small deletions CD910493; Cystic fibrosis; Small deletions CD931167; Cystic fibrosis; Small deletions CD962505; Cystic fibrosis; Small deletions CD972129; Cystic fibrosis; Small deletions CD992498; Cystic fibrosis; Small deletions CD024715; Cystic fibrosis; Small deletions CD983608; Cystic fibrosis; Small deletions CD090065; Cystic fibrosis; Small deletions CD951651; Cystic fibrosis; Small deletions CD983609; Cystic fibrosis; Small deletions CD983595; Cystic fibrosis; Small deletions CD972125; Cystic fibrosis; Small deletions CD057607; Cystic fibrosis; Small deletions CD972974; Cystic fibrosis; Small deletions CD044779; Cystic fibrosis; Small deletions CD900276; Cystic fibrosis; Small deletions CD972126; Cystic fibrosis; Small deletions CD993890; Cystic fibrosis; Small deletions CD983594; Cystic fibrosis; Small deletions CD961885; Cystic fibrosis; Small deletions CD034850; Cystic fibrosis; Small deletions CD993889; Cystic fibrosis; Small deletions CD972133; Cystic fibrosis; Small deletions CD086204; Cystic fibrosis ?; Small deletions CD002163; Cystic fibrosis; Small deletions CD075348; Cystic fibrosis; Small deletions CD043671; Cystic fibrosis; Small deletions CD942004; Cystic fibrosis; Small deletions CD972121; Cystic fibrosis; Small deletions CD930923; Cystic fibrosis; Small deletions CD983610; Cystic fibrosis; Small deletions CD941633; Cystic fibrosis; Small deletions CD962510; Cystic fibrosis; Small deletions CD941639; Cystic fibrosis; Small deletions CD910487; Cystic fibrosis; Small deletions CD930929; Cystic fibrosis; Small deletions CD910495; Cystic fibrosis; Small deletions CD930931; Cystic fibrosis; Small deletions CD962515; Cystic fibrosis; Small deletions CD941636; Cystic fibrosis; Small deletions CD086377; Cystic fibrosis; Small deletions CD952063; Cystic fibrosis; Small deletions CD941630; Cystic fibrosis; Small deletions CD024360; Cystic fibrosis; Small deletions CD931164; Cystic fibrosis; Small deletions CD982537; Cystic fibrosis; Small deletions CD930930; Cystic fibrosis; Small deletions CD002164; Cystic fibrosis; Small deletions CD951650; Cystic fibrosis; Small deletions CD941631; Cystic fibrosis; Small deletions CD951652; Cystic fibrosis; Small deletions CD983596; Cystic fibrosis; Small deletions CD983599; Cystic fibrosis; Small deletions CD961886; Cystic fibrosis; Small deletions CD941999; Cystic fibrosis; Small deletions CD043670; Cystic fibrosis; Small deletions CD972132; Cystic fibrosis; Small deletions CD910489; Cystic fibrosis; Small deletions CD951649; Cystic fibrosis; Small deletions CD931171; Cystic fibrosis; Small deletions CD951656; Cystic fibrosis; Small deletions CD942002; Cystic fibrosis; Small deletions CD941635; Cystic fibrosis; Small deletions CD941998; Cystic fibrosis; Small deletions CD056143; Cystic fibrosis; Small deletions CD982538; Cystic fibrosis; Small deletions CD065679; Cystic fibrosis; Small deletions CD941996; Cystic fibrosis; Small deletions CD090066; Cystic fibrosis; Small deletions CD993895; Cystic fibrosis; Small deletions CD021193; Cystic fibrosis; Small deletions CD042863; Cystic fibrosis; Small deletions CD015373; Congenital absence of vas deferens; Small deletions CD972120; Congenital absence of vas deferens; Small deletions CD057608; Cystic fibrosis; Small deletions CD962513; Cystic fibrosis; Small deletions CD003981; Cystic fibrosis; Small deletions CD951654; Cystic fibrosis; Small deletions CD993892; Cystic fibrosis; Small deletions CD057609; Cystic fibrosis; Small deletions CD972886; Cystic fibrosis; Small deletions CD993886; Cystic fibrosis; Small deletions CD993887; Cystic fibrosis; Small deletions CD930918; Cystic fibrosis; Small deletions CD941643; Cystic fibrosis; Small deletions CD941641; Cystic fibrosis; Small deletions CD952065; Cystic fibrosis; Small deletions CD000925; Cystic fibrosis; Small deletions CD983606; Cystic fibrosis; Small deletions CD930927; Cystic fibrosis; Small deletions CG084372; Cystic fibrosis; Gross deletions CG044306; Cystic fibrosis; Gross deletions CG084373; Cystic fibrosis; Gross deletions CG973423; Cystic fibrosis; Gross deletions CG004951; Cystic fibrosis; Gross deletions CG921056; Cystic fibrosis; Gross deletions CG045022; Cystic fibrosis; Gross deletions CG044307; Cystic fibrosis; Gross deletions CG044308; Cystic fibrosis; Gross deletions CG075773; Cystic fibrosis; Gross deletions CG942160; Cystic fibrosis; Gross deletions CG062324; Cystic fibrosis; Gross deletions CG984265; Cystic fibrosis; Gross deletions CG994835; Cystic fibrosis; Gross deletions CG062325; Cystic fibrosis; Gross deletions CG084375; Cystic fibrosis; Gross deletions CG994836; Cystic fibrosis; Gross deletions CG015460; Cystic fibrosis; Gross deletions CG067595; Cystic fibrosis; Gross deletions CG962815; Cystic fibrosis; Gross deletions CG984266; Cystic fibrosis; Gross deletions CG073813; Cystic fibrosis; Gross deletions CG962816; Cystic fibrosis; Gross deletions CG942161; Cystic fibrosis; Gross deletions CG075774; Cystic fibrosis; Gross deletions CG075775; Cystic fibrosis; Gross deletions CG062326; Cystic fibrosis; Gross deletions CG994837; Cystic fibrosis; Gross deletions CG072666; Congenital absence of vas deferens; Gross deletions CG921057; Cystic fibrosis; Gross deletions CG072667; Congenital absence of vas deferens; Gross deletions CG052612; Cystic fibrosis; Gross deletions CG044309; Cystic fibrosis; Gross deletions CG073814; Cystic fibrosis; Gross deletions CG035166; Cystic fibrosis; Gross deletions CG044315; Cystic fibrosis; Gross deletions CG086642; Cystic fibrosis; Gross deletions CG086643; Cystic fibrosis; Gross deletions CG084802; Cystic fibrosis; Gross deletions CG086641; Cystic fibrosis; Gross deletions CG061580; Cystic fibrosis; Gross deletions CG064780; Cystic fibrosis; Gross deletions CG061581; Cystic fibrosis; Gross deletions CG024828; Cystic fibrosis; Gross deletions CG973424; Cystic fibrosis; Gross deletions CG962817; Cystic fibrosis; Gross deletions CG962818; Cystic fibrosis; Gross deletions CG004952; Cystic fibrosis; Gross deletions CG061582; Cystic fibrosis; Gross deletions CG061583; Congenital absence of vas deferens; Gross deletions CG061584; Cystic fibrosis; Gross deletions CG062327; Congenital absence of vas deferens; Gross deletions CG973425; Cystic fibrosis; Gross deletions CG061585; Cystic fibrosis; Gross deletions CG044313; Cystic fibrosis; Gross deletions CG082340; Cystic fibrosis; Gross deletions CG044311; Cystic fibrosis; Gross deletions CG044312; Cystic fibrosis; Gross deletions CG067926; Cystic fibrosis; Gross deletions CG086379; Cystic fibrosis; Gross deletions CG061586; Cystic fibrosis; Gross deletions CG061587; Cystic fibrosis; Gross deletions CG067927; Cystic fibrosis; Gross deletions CG962819; Cystic fibrosis; Gross deletions CN044475; Cystic fibrosis; Gross insertions CN075885; Congenital absence of vas deferens; Gross insertions CN084561; Cystic fibrosis; Gross insertions CN084562; Cystic fibrosis; Gross insertions CN057630; Cystic fibrosis; Gross insertions CN082428; Cystic fibrosis; Gross insertions CN931350; Cystic fibrosis; Gross insertions CN067951; Cystic fibrosis; Gross insertions CN067952; Congenital absence of vas deferens; Gross insertions CX983618; Cystic fibrosis; Small indels CX067917; Cystic fibrosis; Small indels CX962524; Cystic fibrosis; Small indels CX042909; Cystic fibrosis; Small indels CP931366; Cystic fibrosis; Small indels CX972735; Cystic fibrosis; Small indels CX931111; Cystic fibrosis; Small indels CX931109; Cystic fibrosis; Small indels CX993898; Cystic fibrosis; Small indels CP973582; Cystic fibrosis; Small indels CP931367; Cystic fibrosis; Small indels CX931110; Cystic fibrosis; Small indels CX055782; Respiratory symptoms of cystic fibrosis; Small indels CX055783; Cystic fibrosis; Small indels CX013239; Cystic fibrosis; Small indels CX043737; Congenital absence of vas deferens; Small indels CX962523; Cystic fibrosis; Small indels CX931174; Cystic fibrosis ?; Small indels CP973583; Congenital absence of vas deferens; Small indels CX983619; Cystic fibrosis; Small indels CX057622; Cystic fibrosis; Small indels CX994790; Cystic fibrosis; Small indels CX067918; Congenital absence of vas deferens; Small indels CX086378; Cystic fibrosis; Small indels CX972736; Cystic fibrosis; Small indels CP942282; Cystic fibrosis ?; Small indels CI003301; Cystic fibrosis; Small insertions HI070009; Cystic fibrosis; Small insertions CI962517; Cystic fibrosis; Small insertions CI972573; Congenital absence of vas deferens; Small insertions CI900297; Cystic fibrosis; Small insertions CI920930; Cystic fibrosis; Small insertions CI031895; Cystic fibrosis; Small insertions CI993896; Cystic fibrosis; Small insertions CI043721; Cystic fibrosis; Small insertions CI931072; Cystic fibrosis; Small insertions CI920928; Cystic fibrosis; Small insertions CI972569; Congenital absence of vas deferens; Small insertions CI931173; Cystic fibrosis; Small insertions CI941848; Cystic fibrosis; Small insertions CI003303; Cystic fibrosis; Small insertions CI042895; Cystic fibrosis; Small insertions CI942011; Cystic fibrosis; Small insertions CI983051; Cystic fibrosis; Small insertions CI972976; Cystic fibrosis; Small insertions CI952070; Cystic fibrosis; Small insertions CI056209; Cystic fibrosis; Small insertions CI942006; Cystic fibrosis ?; Small insertions CI931071; Cystic fibrosis; Small insertions CI942009; Cystic fibrosis; Small insertions CI003304; Cystic fibrosis; Small insertions CI910565; Cystic fibrosis; Small insertions CI045353; Cystic fibrosis; Small insertions CI057042; Cystic fibrosis; Small insertions CI042896; Cystic fibrosis; Small insertions CI931172; Cystic fibrosis; Small insertions CI045395; Cystic fibrosis; Small insertions CI942010; Cystic fibrosis; Small insertions CI951921; Cystic fibrosis; Small insertions CI962522; Cystic fibrosis; Small insertions CI951922; Cystic fibrosis; Small insertions CI962519; Cystic fibrosis; Small insertions CI920992; Cystic fibrosis; Small insertions CI941849; Cystic fibrosis; Small insertions CI067894; Cystic fibrosis; Small insertions CI962518; Cystic fibrosis; Small insertions CI082236; Cystic fibrosis; Small insertions CI067895; Cystic fibrosis; Small insertions CI983616; Congenital absence of vas deferens; Small insertions CI075604; Cystic fibrosis; Small insertions CI003302; Cystic fibrosis; Small insertions CI983617; Cystic fibrosis; Small insertions CI931070; Cystic fibrosis; Small insertions CI001933; Cystic fibrosis; Small insertions CI920927; Cystic fibrosis; Small insertions CI952069; Cystic fibrosis; Small insertions CI983614; Cystic fibrosis; Small insertions CI942008; Cystic fibrosis; Small insertions CI090067; Cystic fibrosis; Small insertions CI931074; Cystic fibrosis; Small insertions CI910602; Cystic fibrosis; Small insertions CI993897; Cystic fibrosis; Small insertions CI983613; Cystic fibrosis; Small insertions CI983615; Cystic fibrosis; Small insertions CI942007; Cystic fibrosis; Small insertions CI011676; Cystic fibrosis; Small insertions CI002201; Cystic fibrosis; Small insertions CI972572; Congenital absence of vas deferens; Small insertions CI941851; Cystic fibrosis; Small insertions CI962239; Cystic fibrosis; Small insertions CI034867; Cystic fibrosis; Small insertions CI024721; Cystic fibrosis; Small insertions CI972977; Cystic fibrosis; Small insertions CI972571; Cystic fibrosis; Small insertions CI052538; Cystic fibrosis; Small insertions CI001009; Cystic fibrosis; Small insertions CI931073; Cystic fibrosis; Small insertions CI931075; Cystic fibrosis; Small insertions CI061502; Congenital absence of vas deferens; Small insertions CI972570; Cystic fibrosis; Small insertions CI067896; Cystic fibrosis; Small insertions CI021221; Cystic fibrosis; Small insertions CI941850; Cystic fibrosis; Small insertions CI962521; Cystic fibrosis; Small insertions CM930093; Cystic fibrosis; Missense/nonsense CM994781; Cystic fibrosis; Missense/nonsense CM010791; Asthma; Missense/nonsense CM941965; Cystic fibrosis; Missense/nonsense CM960274; Cystic fibrosis; Missense/nonsense CM930094; Cystic fibrosis; Missense/nonsense CM940232; Cystic fibrosis; Missense/nonsense CM940233; Cystic fibrosis; Missense/nonsense CM930095; Cystic fibrosis; Missense/nonsense CM970256; Cystic fibrosis; Missense/nonsense CM021068; Cystic fibrosis; Missense/nonsense CM031655; Cystic fibrosis; Missense/nonsense CM952250; Cystic fibrosis; Missense/nonsense CM010792; Asthma; Missense/nonsense CM962449; Cystic fibrosis; Missense/nonsense CM931138; Cystic fibrosis; Missense/nonsense CM067745; Cystic fibrosis; Missense/nonsense CM983534; Cystic fibrosis; Missense/nonsense CM970257; Cystic fibrosis; Missense/nonsense CM043456; Cystic fibrosis; Missense/nonsense CM043457; Cystic fibrosis; Missense/nonsense CM057570; Cystic fibrosis; Missense/nonsense CM920138; Cystic fibrosis; Missense/nonsense CM940234; Cystic fibrosis; Missense/nonsense CM940235; Cystic fibrosis; Missense/nonsense CM950231; Cystic fibrosis; Missense/nonsense CM931139; Pancreatitis, idiopathic; Missense/nonsense CM034776; Cystic fibrosis; Missense/nonsense CM920139; Cystic fibrosis; Missense/nonsense CM950232; Cystic fibrosis; Missense/nonsense CM920140; Cystic fibrosis; Missense/nonsense CM970258; Cystic fibrosis; Missense/nonsense CM952045; Cystic fibrosis; Missense/nonsense CM970259; Cystic fibrosis; Missense/nonsense CM067734; Cystic fibrosis; Missense/nonsense CM970260; Congenital absence of vas deferens; Missense/nonsense CM972934; Cystic fibrosis; Missense/nonsense CM950233; Cystic fibrosis; Missense/nonsense CM930096; Cystic fibrosis; Missense/nonsense CM994782; Cystic fibrosis; Missense/nonsense CM003234; Cystic fibrosis; Missense/nonsense CM970261; Congenital absence of vas deferens; Missense/nonsense CM003235; Cystic fibrosis; Missense/nonsense CM920141; Cystic fibrosis; Missense/nonsense CM057577; Cystic fibrosis; Missense/nonsense CM034777; Cystic fibrosis; Missense/nonsense CM034778; Cystic fibrosis; Missense/nonsense CM930097; Cystic fibrosis; Missense/nonsense CM076095; Cystic fibrosis; Missense/nonsense CM920979; Cystic fibrosis; Missense/nonsense CM972935; Cystic fibrosis; Missense/nonsense CM090068; Cystic fibrosis; Missense/nonsense CM962450; Cystic fibrosis; Missense/nonsense CM993844; Cystic fibrosis; Missense/nonsense CM003236; Cystic fibrosis; Missense/nonsense CM930098; Cystic fibrosis ?; Missense/nonsense CM980331; Congenital absence of vas deferens ?; Missense/nonsense CM950234; Cystic fibrosis; Missense/nonsense CM940236; Cystic fibrosis; Missense/nonsense CM931140; Cystic fibrosis; Missense/nonsense CM931141; Cystic fibrosis; Missense/nonsense CM067768; Cystic fibrosis ?; Missense/nonsense CM067752; Cystic fibrosis ?; Missense/nonsense CM910068; Cystic fibrosis; Missense/nonsense CM970262; Cystic fibrosis; Missense/nonsense CM091992; Congenital absence of vas deferens; Missense/nonsense CM940237; Cystic fibrosis; Missense/nonsense CM940238; Cystic fibrosis; Missense/nonsense CM960275; Cystic fibrosis; Missense/nonsense CM920142; Cystic fibrosis; Missense/nonsense CM993845; Cystic fibrosis; Missense/nonsense CM983535; Cystic fibrosis; Missense/nonsense CM930099; Cystic fibrosis; Missense/nonsense CM043458; Cystic fibrosis; Missense/nonsense CM920143; Cystic fibrosis; Missense/nonsense CM940239; Cystic fibrosis; Missense/nonsense CM983536; Cystic fibrosis; Missense/nonsense CM980332; Cystic fibrosis; Missense/nonsense CM015351; Congenital absence of vas deferens; Missense/nonsense CM950235; Cystic fibrosis; Missense/nonsense CM920980; Cystic fibrosis; Missense/nonsense CM034779; Congenital absence of vas deferens; Missense/nonsense CM962451; Cystic fibrosis; Missense/nonsense CM015352; Cystic fibrosis; Missense/nonsense CM057578; Cystic fibrosis; Missense/nonsense CM920981; Cystic fibrosis; Missense/nonsense CM003237; Cystic fibrosis; Missense/nonsense CM074735; Asthenospermia; Missense/nonsense CM087273; Cystic fibrosis; Missense/nonsense CM950236; Cystic fibrosis; Missense/nonsense CM983537; Cystic fibrosis; Missense/nonsense CM940240; Cystic fibrosis; Missense/nonsense CM040400; Cystic fibrosis; Missense/nonsense CM993846; Cystic fibrosis; Missense/nonsense CM024660; Hypertrypsinaemia, neonatal; Missense/nonsense CM900042; Cystic fibrosis; Missense/nonsense CM003238; Cystic fibrosis; Missense/nonsense CM962452; Cystic fibrosis; Missense/nonsense CM970263; Congenital absence of vas deferens; Missense/nonsense CM074727; Congenital absence of vas deferens; Missense/nonsense CM043459; Cystic fibrosis; Missense/nonsense CM001648; Cystic fibrosis; Missense/nonsense CM941966; Cystic fibrosis; Missense/nonsense CM003239; Cystic fibrosis; Missense/nonsense CM066753; Cystic fibrosis; Missense/nonsense CM005456; Congenital absence of vas deferens; Missense/nonsense CM940241; Cystic fibrosis ?; Missense/nonsense CM900043; Cystic fibrosis ?; Missense/nonsense CM930100; Cystic fibrosis; Missense/nonsense CM950237; Cystic fibrosis; Missense/nonsense CM024661; Cystic fibrosis; Missense/nonsense CM940242; Cystic fibrosis; Missense/nonsense CM034780; Cystic fibrosis ?; Missense/nonsense CM067766; Cystic fibrosis; Missense/nonsense CM920144; Cystic fibrosis; Missense/nonsense CM065998; Congenital absence of vas deferens; Missense/nonsense CM983538; Cystic fibrosis; Missense/nonsense CM091993; Congenital absence of vas deferens; Missense/nonsense CM940243; Cystic fibrosis; Missense/nonsense CM962453; Cystic fibrosis; Missense/nonsense CM962454; Cystic fibrosis; Missense/nonsense CM051410; Cystic fibrosis; Missense/nonsense CM972936; Cystic fibrosis; Missense/nonsense CM950238; Cystic fibrosis; Missense/nonsense CM001649; Cystic fibrosis; Missense/nonsense CM983539; Cystic fibrosis; Missense/nonsense CM941967; Cystic fibrosis; Missense/nonsense CM970264; Cystic fibrosis; Missense/nonsense CM057579; Cystic fibrosis; Missense/nonsense CM962455; Congenital absence of vas deferens; Missense/nonsense CM962456; Cystic fibrosis; Missense/nonsense CM920145; Phenotype modifier, association with; Missense/nonsense CM067763; Cystic fibrosis; Missense/nonsense CM950239; Cystic fibrosis; Missense/nonsense CM086804; Cystic fibrosis ?; Missense/nonsense CM063899; Cystic fibrosis; Missense/nonsense CM043460; Congenital absence of vas deferens; Missense/nonsense CM920146; Cystic fibrosis; Missense/nonsense CM983540; Cystic fibrosis; Missense/nonsense CM931142; Cystic fibrosis; Missense/nonsense CM067757; Asthenospermia; Missense/nonsense CM972937; Cystic fibrosis; Missense/nonsense CM091994; Congenital absence of vas deferens; Missense/nonsense CM034009; Cystic fibrosis ?; Missense/nonsense CM055123; Cystic fibrosis ?; Missense/nonsense CM994783; Congenital absence of vas deferens; Missense/nonsense CM003240; Cystic fibrosis; Missense/nonsense CM024662; Cystic fibrosis; Missense/nonsense CM993848; Cystic fibrosis; Missense/nonsense CM044864; Cystic fibrosis; Missense/nonsense CM003241; Cystic fibrosis; Missense/nonsense CM993847; Cystic fibrosis; Missense/nonsense CM983541; Cystic fibrosis; Missense/nonsense CM920982; Cystic fibrosis; Missense/nonsense CM970265; Cystic fibrosis; Missense/nonsense CM920983; Cystic fibrosis; Missense/nonsense CM941968; Cystic fibrosis; Missense/nonsense CM015353; Congenital absence of vas deferens; Missense/nonsense CM940244; Cystic fibrosis; Missense/nonsense CM962457; Cystic fibrosis; Missense/nonsense CM043461; Cystic fibrosis; Missense/nonsense CM910069; Cystic fibrosis; Missense/nonsense CM003242; Cystic fibrosis; Missense/nonsense CM057583; Cystic fibrosis ?; Missense/nonsense CM983542; Cystic fibrosis; Missense/nonsense CM983543; Cystic fibrosis; Missense/nonsense CM087308; Pancreatitis, idiopathic chronic ?; Missense/nonsense CM060896; Cystic fibrosis; Missense/nonsense CM021553; Cystic fibrosis; Missense/nonsense CM940245; Cystic fibrosis; Missense/nonsense CM941969; Cystic fibrosis; Missense/nonsense CM950240; Cystic fibrosis; Missense/nonsense CM941970; Cystic fibrosis; Missense/nonsense CM066544; Pancreatitis, chronic ?; Missense/nonsense CM983544; Cystic fibrosis; Missense/nonsense CM993849; Cystic fibrosis; Missense/nonsense CM940246; Cystic fibrosis; Missense/nonsense CM024663; Cystic fibrosis; Missense/nonsense CM920147; Cystic fibrosis; Missense/nonsense CM024664; Congenital absence of vas deferens; Missense/nonsense CM001961; Cystic fibrosis; Missense/nonsense CM034781; Cystic fibrosis; Missense/nonsense CM043462; Congenital absence of vas deferens; Missense/nonsense CM087336; Cystic fibrosis; Missense/nonsense CM024665; Cystic fibrosis; Missense/nonsense CM930101; Cystic fibrosis; Missense/nonsense CM930102; Cystic fibrosis; Missense/nonsense CM972938; Cystic fibrosis; Missense/nonsense CM931143; Cystic fibrosis; Missense/nonsense CM983545; Cystic fibrosis; Missense/nonsense CM034782; Cystic fibrosis; Missense/nonsense CM024666; Cystic fibrosis; Missense/nonsense CM993850; Cystic fibrosis; Missense/nonsense CM972939; Cystic fibrosis; Missense/nonsense CM962458; Cystic fibrosis; Missense/nonsense CM940247; Cystic fibrosis; Missense/nonsense CM983546; Cystic fibrosis; Missense/nonsense CM920148; Cystic fibrosis; Missense/nonsense CM962459; Cystic fibrosis; Missense/nonsense CM002751; Cystic fibrosis; Missense/nonsense CM970266; Cystic fibrosis; Missense/nonsense CM941971; Cystic fibrosis; Missense/nonsense CM067761; Congenital absence of vas deferens; Missense/nonsense CM950241; Cystic fibrosis; Missense/nonsense CM011283; Cystic fibrosis; Missense/nonsense CM993851; Cystic fibrosis; Missense/nonsense CM970267; Congenital absence of vas deferens; Missense/nonsense CM970268; Cystic fibrosis; Missense/nonsense CM972940; Congenital absence of vas deferens; Missense/nonsense CM063902; Cystic fibrosis; Missense/nonsense CM950242; Cystic fibrosis; Missense/nonsense CM970269; Congenital absence of vas deferens; Missense/nonsense CM001962; Cystic fibrosis; Missense/nonsense CM950243; Cystic fibrosis; Missense/nonsense CM043463; Cystic fibrosis; Missense/nonsense CM066751; Cystic fibrosis; Missense/nonsense CM067756; Cystic fibrosis ?; Missense/nonsense CM024667; Cystic fibrosis; Missense/nonsense CM087309; Pancreatitis, idiopathic chronic ?; Missense/nonsense CM055925; Cystic fibrosis; Missense/nonsense CM970270; Cystic fibrosis; Missense/nonsense CM952046; Cystic fibrosis; Missense/nonsense CM962763; Cystic fibrosis; Missense/nonsense CM024668; Cystic fibrosis; Missense/nonsense CM066752; Cystic fibrosis; Missense/nonsense CM920149; Cystic fibrosis; Missense/nonsense CM970271; Congenital absence of vas deferens; Missense/nonsense CM993852; Cystic fibrosis; Missense/nonsense CM990360; Hypertrypsinaemia, low sweat chloride; Missense/nonsense CM962460; Cystic fibrosis; Missense/nonsense CM067754; Cystic fibrosis ?; Missense/nonsense HM971268; Cystic fibrosis; Missense/nonsense CM024669; Cystic fibrosis ?; Missense/nonsense CM941972; Cystic fibrosis; Missense/nonsense CM980334; Cystic fibrosis; Missense/nonsense CM024670; Hypertrypsinaemia, neonatal; Missense/nonsense CM920150; Cystic fibrosis; Missense/nonsense CM057582; Cystic fibrosis; Missense/nonsense CM960276; Cystic fibrosis; Missense/nonsense CM920151; Cystic fibrosis; Missense/nonsense CM972941; Cystic fibrosis; Missense/nonsense CM931144; Cystic fibrosis; Missense/nonsense CM015354; Cystic fibrosis; Missense/nonsense CM941973; Cystic fibrosis; Missense/nonsense CM962461; Congenital absence of vas deferens; Missense/nonsense CM043464; Cystic fibrosis; Missense/nonsense CM941974; Cystic fibrosis; Missense/nonsense CM011284; Cystic fibrosis; Missense/nonsense CM931145; Pancreatitis, hereditary; Missense/nonsense CM970272; Cystic fibrosis; Missense/nonsense CM910070; Cystic fibrosis; Missense/nonsense CM952047; Cystic fibrosis; Missense/nonsense CM970273; Congenital absence of vas deferens; Missense/nonsense CM930103; Cystic fibrosis; Missense/nonsense CM930104; Cystic fibrosis; Missense/nonsense CM065996; Congenital absence of vas deferens; Missense/nonsense CM024671; Cystic fibrosis; Missense/nonsense CM057576; Cystic fibrosis; Missense/nonsense CM940248; Cystic fibrosis; Missense/nonsense CM920152; Cystic fibrosis; Missense/nonsense CM900044; Cystic fibrosis; Missense/nonsense CM930105; Cystic fibrosis; Missense/nonsense CM931146; Cystic fibrosis; Missense/nonsense CM930106; Cystic fibrosis; Missense/nonsense CM067738; Cystic fibrosis ?; Missense/nonsense CM053173; Pancreatitis, idiopathic; Missense/nonsense CM930107; Cystic fibrosis; Missense/nonsense CM930108; Cystic fibrosis; Missense/nonsense CM920153; Cystic fibrosis; Missense/nonsense CM034783; Cystic fibrosis; Missense/nonsense CM962462; Cystic fibrosis; Missense/nonsense CM952048; Cystic fibrosis; Missense/nonsense CM003243; Cystic fibrosis; Missense/nonsense CM067769; Cystic fibrosis; Missense/nonsense CM043465; Cystic fibrosis; Missense/nonsense CM983547; Cystic fibrosis; Missense/nonsense CM993853; Cystic fibrosis; Missense/nonsense CM983548; Cystic fibrosis; Missense/nonsense CM983549; Cystic fibrosis; Missense/nonsense CM931147; Cystic fibrosis; Missense/nonsense CM021069; Cystic fibrosis; Missense/nonsense CM970274; Cystic fibrosis; Missense/nonsense CM003244; Cystic fibrosis; Missense/nonsense CM067758; Cystic fibrosis; Missense/nonsense CM960277; Cystic fibrosis; Missense/nonsense CM024672; Cystic fibrosis; Missense/nonsense CM024673; Congenital absence of vas deferens; Missense/nonsense CM003245; Cystic fibrosis; Missense/nonsense CM972942; Cystic fibrosis; Missense/nonsense CM010793; Asthma; Missense/nonsense CM962463; Congenital absence of vas deferens; Missense/nonsense CM972943; Cystic fibrosis; Missense/nonsense CM983550; Cystic fibrosis; Missense/nonsense CM024674; Cystic fibrosis; Missense/nonsense CM003246; Cystic fibrosis; Missense/nonsense CM972944; Cystic fibrosis; Missense/nonsense CM930111; Cystic fibrosis; Missense/nonsense CM993854; Cystic fibrosis; Missense/nonsense CM993855; Cystic fibrosis; Missense/nonsense CM940249; Cystic fibrosis; Missense/nonsense CM067729; Cystic fibrosis ?; Missense/nonsense CM941975; Cystic fibrosis; Missense/nonsense CM003247; Cystic fibrosis; Missense/nonsense CM067748; Cystic fibrosis ?; Missense/nonsense CM983551; Cystic fibrosis; Missense/nonsense CM087536; Cystic fibrosis; Missense/nonsense CM055927; Cystic fibrosis; Missense/nonsense CM970275; Congenital absence of vas deferens; Missense/nonsense CM074731; Cystic fibrosis ?; Missense/nonsense CM993856; Cystic fibrosis; Missense/nonsense CM055125; Cystic fibrosis; Missense/nonsense CM972945; Cystic fibrosis; Missense/nonsense CM900045; Cystic fibrosis; Missense/nonsense CM940250; Cystic fibrosis; Missense/nonsense CM022334; Cystic fibrosis; Missense/nonsense CM920154; Cystic fibrosis; Missense/nonsense CM021554; Cystic fibrosis; Missense/nonsense CM034784; Cystic fibrosis; Missense/nonsense CM063897; Cystic fibrosis; Missense/nonsense CM960278; Cystic fibrosis; Missense/nonsense CM940251; Cystic fibrosis; Missense/nonsense CM952049; Congenital absence of vas deferens; Missense/nonsense CM063898; Cystic fibrosis; Missense/nonsense CM034785; Congenital absence of vas deferens; Missense/nonsense CM056306; Congenital absence of vas deferens; Missense/nonsense CM034388; Respiratory/pancreatic disease, association with; Missense/nonsense CM994784; Cystic fibrosis; Missense/nonsense CM074728; Cystic fibrosis; Missense/nonsense CM015355; Cystic fibrosis; Missense/nonsense CM920155; Cystic fibrosis; Missense/nonsense CM952251; Cystic fibrosis; Missense/nonsense CM055126; Cystic fibrosis ?; Missense/nonsense CM983552; Cystic fibrosis; Missense/nonsense CM972946; Congenital absence of vas deferens; Missense/nonsense CM993857; Cystic fibrosis; Missense/nonsense CM952050; Cystic fibrosis; Missense/nonsense CM032555; Cystic fibrosis; Missense/nonsense CM970276; Cystic fibrosis; Missense/nonsense CM983553; Cystic fibrosis; Missense/nonsense CM920156; Cystic fibrosis; Missense/nonsense CM024232; Cystic fibrosis; Missense/nonsense CM940252; Cystic fibrosis; Missense/nonsense CM090069; Cystic fibrosis; Missense/nonsense CM900046; Cystic fibrosis; Missense/nonsense CM940253; Cystic fibrosis; Missense/nonsense CM024675; Pancreatitis, hereditary; Missense/nonsense CM057571; Cystic fibrosis; Missense/nonsense CM980335; Congenital absence of vas deferens; Missense/nonsense CM993858; Cystic fibrosis; Missense/nonsense CM024676; Cystic fibrosis; Missense/nonsense CM983554; Cystic fibrosis; Missense/nonsense CM920157; Cystic fibrosis; Missense/nonsense CM972947; Cystic fibrosis; Missense/nonsense CM950244; Cystic fibrosis; Missense/nonsense CM940254; Cystic fibrosis; Missense/nonsense CM940255; Cystic fibrosis; Missense/nonsense CM983555; Cystic fibrosis; Missense/nonsense CM900047; Cystic fibrosis ?; Missense/nonsense CM983556; Cystic fibrosis; Missense/nonsense CM900048; Cystic fibrosis ?; Missense/nonsense CM980336; Congenital absence of vas deferens; Missense/nonsense CM024677; Cystic fibrosis; Missense/nonsense CM024678; Cystic fibrosis; Missense/nonsense CM972948; Cystic fibrosis; Missense/nonsense CM941976; Cystic fibrosis; Missense/nonsense CM920158; Cystic fibrosis; Missense/nonsense CM051411; Cystic fibrosis; Missense/nonsense CM920159; Cystic fibrosis; Missense/nonsense CM940256; Cystic fibrosis; Missense/nonsense CM972949; Cystic fibrosis; Missense/nonsense CM990361; Hypertrypsinaemia, low sweat chloride; Missense/nonsense CM074733; Cystic fibrosis; Missense/nonsense CM983557; Cystic fibrosis; Missense/nonsense CM090070; Cystic fibrosis; Missense/nonsense CM086646; Cystic fibrosis; Missense/nonsense CM001650; Cystic fibrosis; Missense/nonsense CM930112; Cystic fibrosis; Missense/nonsense CM065997; Congenital absence of vas deferens; Missense/nonsense CM952051; Cystic fibrosis; Missense/nonsense CM900049; Cystic fibrosis; Missense/nonsense CM091995; Congenital absence of vas deferens; Missense/nonsense CM941977; Cystic fibrosis; Missense/nonsense CM970277; Congenital absence of vas deferens; Missense/nonsense CM043466; Foetal hyperechogenic bowel; Missense/nonsense CM900050; Cystic fibrosis; Missense/nonsense CM900051; Cystic fibrosis; Missense/nonsense CM900052; Cystic fibrosis; Missense/nonsense CM910071; Cystic fibrosis; Missense/nonsense CM952052; Cystic fibrosis; Missense/nonsense CM920984; Cystic fibrosis; Missense/nonsense CM920160; Cystic fibrosis; Missense/nonsense CM900053; Cystic fibrosis; Missense/nonsense CM980337; Congenital absence of vas deferens; Missense/nonsense CM962464; Cystic fibrosis; Missense/nonsense CM910072; Cystic fibrosis; Missense/nonsense CM931148; Cystic fibrosis; Missense/nonsense CM900054; Cystic fibrosis; Missense/nonsense CM920161; Cystic fibrosis; Missense/nonsense CM930113; Cystic fibrosis; Missense/nonsense CM993859; Cystic fibrosis; Missense/nonsense CM920985; Cystic fibrosis ?; Missense/nonsense CM920162; Cystic fibrosis; Missense/nonsense CM900055; Cystic fibrosis; Missense/nonsense CM994785; Cystic fibrosis; Missense/nonsense CM067759; Cystic fibrosis; Missense/nonsense CM024679; Cystic fibrosis; Missense/nonsense CM920163; Cystic fibrosis; Missense/nonsense CM900056; Cystic fibrosis; Missense/nonsense CM980338; Cystic fibrosis; Missense/nonsense CM992306; Cystic fibrosis; Missense/nonsense CM970278; Cystic fibrosis; Missense/nonsense CM990362; Cystic fibrosis; Missense/nonsense CM960279; Cystic fibrosis; Missense/nonsense CM900057; Cystic fibrosis; Missense/nonsense CM970279; Cystic fibrosis; Missense/nonsense CM962465; Cystic fibrosis; Missense/nonsense CM063900; Cystic fibrosis; Missense/nonsense CM983666; Congenital absence of vas deferens; Missense/nonsense CM078046; Cystic fibrosis; Missense/nonsense CM034786; Cystic fibrosis; Missense/nonsense CM970280; Cystic fibrosis; Missense/nonsense CM970281; Congenital absence of vas deferens; Missense/nonsense CM001651; Cystic fibrosis; Missense/nonsense CM980339; Cystic fibrosis; Missense/nonsense CM960280; Cystic fibrosis; Missense/nonsense CM931149; Cystic fibrosis; Missense/nonsense CM970282; Cystic fibrosis; Missense/nonsense CM950245; Cystic fibrosis; Missense/nonsense CM066547; Pancreatitis, chronic ?; Missense/nonsense CM900058; Cystic fibrosis; Missense/nonsense CM067770; Congenital absence of vas deferens; Missense/nonsense CM066548; Pancreatitis, chronic ?; Missense/nonsense CM920164; Congenital absence of vas deferens; Missense/nonsense CM962466; Cystic fibrosis; Missense/nonsense CM962467; Cystic fibrosis; Missense/nonsense CM941978; Cystic fibrosis; Missense/nonsense CM983558; Cystic fibrosis; Missense/nonsense CM950246; Cystic fibrosis; Missense/nonsense CM024680; Congenital absence of vas deferens; Missense/nonsense CM940257; Cystic fibrosis; Missense/nonsense CM962468; Cystic fibrosis; Missense/nonsense CM920165; Cystic fibrosis; Missense/nonsense CM067730; Cystic fibrosis ?; Missense/nonsense CM043467; Congenital absence of vas deferens; Missense/nonsense CM055924; Cystic fibrosis; Missense/nonsense CM022335; Cystic fibrosis; Missense/nonsense CM056941; Cystic fibrosis; Missense/nonsense CM056942; Cystic fibrosis; Missense/nonsense CM074732; Cystic fibrosis; Missense/nonsense CM067739; Cystic fibrosis ?; Missense/nonsense CM074730; Respiratory symptoms of cystic fibrosis; Missense/nonsense CM066545; Pancreatitis, chronic ?; Missense/nonsense CM067741; Cystic fibrosis; Missense/nonsense CM972950; Cystic fibrosis; Missense/nonsense CM057326; Cystic fibrosis; Missense/nonsense CM980340; Cystic fibrosis; Missense/nonsense CM983559; Cystic fibrosis; Missense/nonsense CM055922; Cystic fibrosis; Missense/nonsense CM994786; Congenital absence of vas deferens; Missense/nonsense CM024233; Cystic fibrosis; Missense/nonsense CM972951; Cystic fibrosis; Missense/nonsense CM067750; Cystic fibrosis; Missense/nonsense CM980341; Cystic fibrosis; Missense/nonsense CM980342; Cystic fibrosis; Missense/nonsense CM930114; Cystic fibrosis; Missense/nonsense CM994787; Cystic fibrosis; Missense/nonsense CM970283; Cystic fibrosis; Missense/nonsense CM940258; Cystic fibrosis; Missense/nonsense CM980343; Cystic fibrosis; Missense/nonsense CM980344; Cystic fibrosis; Missense/nonsense CM980345; Cystic fibrosis; Missense/nonsense CM920166; Cystic fibrosis; Missense/nonsense CM931150; Cystic fibrosis; Missense/nonsense CM067733; Cystic fibrosis; Missense/nonsense CM980346; Cystic fibrosis; Missense/nonsense CM962764; Cystic fibrosis; Missense/nonsense CM983560; Cystic fibrosis; Missense/nonsense CM993860; Cystic fibrosis; Missense/nonsense CM024681; Cystic fibrosis; Missense/nonsense CM940259; Cystic fibrosis; Missense/nonsense CM983561; Cystic fibrosis; Missense/nonsense CM024682; Obstructive azoospermia; Missense/nonsense CM972952; Cystic fibrosis; Missense/nonsense CM067772; Cystic fibrosis ?; Missense/nonsense CM970284; Cystic fibrosis; Missense/nonsense CM960281; Cystic fibrosis; Missense/nonsense CM950247; Cystic fibrosis ?; Missense/nonsense CM940260; Cystic fibrosis; Missense/nonsense CM993861; Cystic fibrosis; Missense/nonsense CM003248; Cystic fibrosis; Missense/nonsense CM940261; Cystic fibrosis; Missense/nonsense CM031945; Primary sclerosing cholangitis; Missense/nonsense CM067765; Cystic fibrosis; Missense/nonsense CM034787; Cystic fibrosis; Missense/nonsense CM970285; Cystic fibrosis; Missense/nonsense CM930115; Cystic fibrosis; Missense/nonsense CM015356; Asthma; Missense/nonsense CM972953; Cystic fibrosis; Missense/nonsense CM950248; Cystic fibrosis; Missense/nonsense CM024683; Cystic fibrosis; Missense/nonsense CM920167; Cystic fibrosis; Missense/nonsense CM024684; Cystic fibrosis; Missense/nonsense CM930116; Cystic fibrosis; Missense/nonsense CM940262; Cystic fibrosis; Missense/nonsense CM993862; Cystic fibrosis; Missense/nonsense CM024685; Bronchiectasis; Missense/nonsense CM983562; Cystic fibrosis; Missense/nonsense CM930117; Cystic fibrosis; Missense/nonsense CM970286; Cystic fibrosis; Missense/nonsense CM015357; Cystic fibrosis; Missense/nonsense CM043468; Pancreatitis, hereditary; Missense/nonsense CM057581; Cystic fibrosis; Missense/nonsense CM000667; Cystic fibrosis; Missense/nonsense CM024686; Cystic fibrosis; Missense/nonsense CM077237; Congenital absence of vas deferens; Missense/nonsense CM000668; Cystic fibrosis; Missense/nonsense CM993863; Cystic fibrosis; Missense/nonsense CM960282; Cystic fibrosis; Missense/nonsense CM980348; Congenital absence of vas deferens; Missense/nonsense CM972954; Cystic fibrosis; Missense/nonsense CM972955; Cystic fibrosis; Missense/nonsense CM023615; Cystic fibrosis; Missense/nonsense CM941979; Cystic fibrosis; Missense/nonsense CM067731; Cystic fibrosis ?; Missense/nonsense CM980347; Congenital absence of vas deferens; Missense/nonsense CM930118; Cystic fibrosis; Missense/nonsense CM950249; Cystic fibrosis; Missense/nonsense CM004239; Congenital absence of vas deferens; Missense/nonsense CM072949; Cystic fibrosis; Missense/nonsense CM980349; Congenital absence of vas deferens; Missense/nonsense CM067767; Cystic fibrosis ?; Missense/nonsense CM015358; Congenital absence of vas deferens; Missense/nonsense CM024687; Cystic fibrosis; Missense/nonsense CM035676; Cystic fibrosis; Missense/nonsense CM930119; Cystic fibrosis; Missense/nonsense CM970287; Cystic fibrosis; Missense/nonsense CM983563; Cystic fibrosis; Missense/nonsense CM980350; Cystic fibrosis; Missense/nonsense CM920168; Cystic fibrosis; Missense/nonsense CM024688; Cystic fibrosis; Missense/nonsense CM930120; Cystic fibrosis; Missense/nonsense CM960283; Cystic fibrosis; Missense/nonsense CM066549; Pancreatitis, chronic ?; Missense/nonsense CM920986; Cystic fibrosis; Missense/nonsense CM067736; Cystic fibrosis ?; Missense/nonsense CM004892; Congenital absence of vas deferens; Missense/nonsense CM930121; Cystic fibrosis; Missense/nonsense CM900059; Cystic fibrosis; Missense/nonsense CM994348; Cystic fibrosis; Missense/nonsense CM970288; Cystic fibrosis; Missense/nonsense CM910073; Cystic fibrosis; Missense/nonsense CM091996; Congenital absence of vas deferens; Missense/nonsense CM044595; Congenital absence of vas deferens; Missense/nonsense CM920169; Cystic fibrosis; Missense/nonsense CM962469; Cystic fibrosis; Missense/nonsense CM962470; Cystic fibrosis; Missense/nonsense CM983564; Cystic fibrosis; Missense/nonsense CM920170; Cystic fibrosis; Missense/nonsense CM983565; Cystic fibrosis; Missense/nonsense CM004880; Cystic fibrosis ?; Missense/nonsense CM003249; Cystic fibrosis; Missense/nonsense CM024689; Bronchiectasis; Missense/nonsense CM004462; Cystic fibrosis; Missense/nonsense CM930122; Cystic fibrosis; Missense/nonsense CM940263; Cystic fibrosis; Missense/nonsense CM900060; Cystic fibrosis; Missense/nonsense CM055926; Cystic fibrosis; Missense/nonsense CM063901; Cystic fibrosis; Missense/nonsense CM960284; Cystic fibrosis; Missense/nonsense CM962471; Cystic fibrosis; Missense/nonsense CM940264; Cystic fibrosis; Missense/nonsense CM980351; Cystic fibrosis; Missense/nonsense CM043469; Congenital absence of vas deferens; Missense/nonsense CM074093; Cystic fibrosis; Missense/nonsense CM940265; Cystic fibrosis; Missense/nonsense CM993864; Cystic fibrosis; Missense/nonsense CM970289; Congenital absence of vas deferens; Missense/nonsense CM034788; Congenital absence of vas deferens; Missense/nonsense CM970290; Congenital absence of vas deferens; Missense/nonsense CM962472; Cystic fibrosis; Missense/nonsense CM931151; Cystic fibrosis; Missense/nonsense CM930123; Cystic fibrosis; Missense/nonsense CM962473; Cystic fibrosis; Missense/nonsense CM940266; Cystic fibrosis; Missense/nonsense CM952053; Cystic fibrosis; Missense/nonsense CM055124; Cystic fibrosis ?; Missense/nonsense CM993865; Cystic fibrosis; Missense/nonsense CM980352; Cystic fibrosis; Missense/nonsense CM087537; Cystic fibrosis; Missense/nonsense CM034789; Congenital absence of vas deferens; Missense/nonsense CM003250; Cystic fibrosis; Missense/nonsense CM001652; Hypertrypsinaemia, low sweat chloride; Missense/nonsense CM067735; Cystic fibrosis; Missense/nonsense CM930124; Cystic fibrosis; Missense/nonsense CM990363; Cystic fibrosis; Missense/nonsense CM983566; Cystic fibrosis; Missense/nonsense CM960285; Cystic fibrosis; Missense/nonsense CM972956; Cystic fibrosis; Missense/nonsense CM970291; Congenital absence of vas deferens; Missense/nonsense CM970292; Cystic fibrosis; Missense/nonsense CM960286; Cystic fibrosis; Missense/nonsense CM074729; Oligospermia; Missense/nonsense CM983567; Cystic fibrosis; Missense/nonsense CM941980; Cystic fibrosis; Missense/nonsense CM001963; Sarcoidosis, susceptibility to; Missense/nonsense CM074734; Respiratory symptoms of cystic fibrosis; Missense/nonsense CM962474; Cystic fibrosis; Missense/nonsense CM983568; Cystic fibrosis; Missense/nonsense CM920171; Congenital absence of vas deferens ?; Missense/nonsense CM003251; Cystic fibrosis; Missense/nonsense CM940267; Cystic fibrosis; Missense/nonsense CM950250; Cystic fibrosis; Missense/nonsense CM983569; Cystic fibrosis; Missense/nonsense CM003252; Cystic fibrosis; Missense/nonsense CM034790; Pancreatitis, hereditary; Missense/nonsense CM980353; Cystic fibrosis; Missense/nonsense CM983570; Cystic fibrosis; Missense/nonsense CM042689; Cystic fibrosis; Missense/nonsense CM067764; Cystic fibrosis; Missense/nonsense CM024690; Cystic fibrosis; Missense/nonsense CM972957; Congenital absence of vas deferens; Missense/nonsense CM043470; Hypochloraemic alkalosis; Missense/nonsense CM960287; Cystic fibrosis; Missense/nonsense CM003253; Cystic fibrosis; Missense/nonsense CM980354; Cystic fibrosis; Missense/nonsense CM043471; Cystic fibrosis; Missense/nonsense CM970293; Congenital absence of vas deferens; Missense/nonsense CM043472; Cystic fibrosis; Missense/nonsense CM055121; Cystic fibrosis; Missense/nonsense CM078047; Cystic fibrosis; Missense/nonsense CM983571; Cystic fibrosis; Missense/nonsense CM056563; Cystic fibrosis; Missense/nonsense CM087272; Cystic fibrosis; Missense/nonsense CM024691; Cystic fibrosis; Missense/nonsense CM067746; Cystic fibrosis ?; Missense/nonsense CM043473; Cystic fibrosis; Missense/nonsense CM930125; Cystic fibrosis; Missense/nonsense CM983572; Cystic fibrosis; Missense/nonsense CM067749; Cystic fibrosis ?; Missense/nonsense CM067751; Cystic fibrosis ?; Missense/nonsense CM940268; Cystic fibrosis; Missense/nonsense CM003805; Congenital absence of vas deferens; Missense/nonsense CM962475; Cystic fibrosis; Missense/nonsense CM940269; Cystic fibrosis; Missense/nonsense CM950251; Cystic fibrosis; Missense/nonsense CM960288; Cystic fibrosis; Missense/nonsense CM930126; Cystic fibrosis; Missense/nonsense CM920172; Cystic fibrosis; Missense/nonsense CM984227; Cystic fibrosis; Missense/nonsense CM920173; Cystic fibrosis; Missense/nonsense CM980355; Cystic fibrosis; Missense/nonsense CM920174; Cystic fibrosis; Missense/nonsense CM930127; Cystic fibrosis; Missense/nonsense CM952054; Cystic fibrosis; Missense/nonsense CM920175; Cystic fibrosis; Missense/nonsense CM994788; Cystic fibrosis; Missense/nonsense CM950252; Cystic fibrosis; Missense/nonsense CM920176; Cystic fibrosis; Missense/nonsense CM074736; Congenital absence of vas deferens; Missense/nonsense CM940270; Cystic fibrosis; Missense/nonsense CM950253; Cystic fibrosis; Missense/nonsense CM930128; Cystic fibrosis; Missense/nonsense CM970294; Cystic fibrosis; Missense/nonsense CM940271; Cystic fibrosis; Missense/nonsense CM003254; Cystic fibrosis; Missense/nonsense CM034791; Congenital absence of vas deferens; Missense/nonsense CM983573; Cystic fibrosis; Missense/nonsense CM024692; Hypertrypsinaemia, neonatal; Missense/nonsense CM970295; Cystic fibrosis; Missense/nonsense CM920177; Cystic fibrosis; Missense/nonsense CM057573; Cystic fibrosis; Missense/nonsense CM015359; Congenital absence of vas deferens; Missense/nonsense CM930129; Cystic fibrosis; Missense/nonsense CM962476; Cystic fibrosis; Missense/nonsense CM034792; Cystic fibrosis; Missense/nonsense CM053174; Pancreatitis, idiopathic; Missense/nonsense CM983574; Cystic fibrosis; Missense/nonsense CM950254; Cystic fibrosis; Missense/nonsense CM920178; Cystic fibrosis; Missense/nonsense CM972958; Cystic fibrosis; Missense/nonsense HM030019; Cystic fibrosis ?; Missense/nonsense CM920179; Cystic fibrosis; Missense/nonsense CM941981; Cystic fibrosis; Missense/nonsense CM993438; Cystic fibrosis; Missense/nonsense CM983575; Cystic fibrosis; Missense/nonsense CM056307; Cystic fibrosis; Missense/nonsense CM940272; Cystic fibrosis; Missense/nonsense CM074737; Cystic fibrosis; Missense/nonsense CM962477; Cystic fibrosis; Missense/nonsense CM000669; Cystic fibrosis; Missense/nonsense CM055127; Cystic fibrosis; Missense/nonsense CM940273; Cystic fibrosis; Missense/nonsense CM930130; Cystic fibrosis; Missense/nonsense CM930131; Cystic fibrosis; Missense/nonsense CM043474; Cystic fibrosis; Missense/nonsense CM950255; Cystic fibrosis; Missense/nonsense CM031656; Cystic fibrosis; Missense/nonsense CM071597; Congenital absence of vas deferens; Missense/nonsense CM993866; Cystic fibrosis; Missense/nonsense CM983576; Cystic fibrosis; Missense/nonsense CM960289; Cystic fibrosis; Missense/nonsense CM941982; Cystic fibrosis; Missense/nonsense CM962478; Cystic fibrosis; Missense/nonsense CM024693; Cystic fibrosis ?; Missense/nonsense CM015360; Congenital absence of vas deferens; Missense/nonsense CM993867; Cystic fibrosis; Missense/nonsense CM003255; Cystic fibrosis; Missense/nonsense CM067740; Cystic fibrosis ?; Missense/nonsense CM952055; Cystic fibrosis; Missense/nonsense CM931152; Cystic fibrosis; Missense/nonsense CM940274; Cystic fibrosis; Missense/nonsense CM983577; Cystic fibrosis; Missense/nonsense CM004893; Asthma; Missense/nonsense CM962479; Cystic fibrosis; Missense/nonsense CM086582; Congenital absence of vas deferens; Missense/nonsense CM003256; Cystic fibrosis; Missense/nonsense CM983578; Cystic fibrosis; Missense/nonsense CM003257; Cystic fibrosis; Missense/nonsense CM950256; Cystic fibrosis ?; Missense/nonsense CM970296; Congenital absence of vas deferens; Missense/nonsense CM941983; Congenital absence of vas deferens; Missense/nonsense CM920180; Cystic fibrosis; Missense/nonsense CM931153; Cystic fibrosis; Missense/nonsense CM993868; Cystic fibrosis; Missense/nonsense CM011285; Cystic fibrosis; Missense/nonsense CM910074; Cystic fibrosis; Missense/nonsense CM014892; Cystic fibrosis; Missense/nonsense CM021555; Cystic fibrosis; Missense/nonsense CM034793; Cystic fibrosis; Missense/nonsense CM931154; Cystic fibrosis; Missense/nonsense CM941984; Cystic fibrosis; Missense/nonsense CM001653; Cystic fibrosis; Missense/nonsense CM941985; Cystic fibrosis; Missense/nonsense CM962480; Cystic fibrosis; Missense/nonsense CM941986; Cystic fibrosis; Missense/nonsense CM024694; Cystic fibrosis; Missense/nonsense CM930132; Cystic fibrosis; Missense/nonsense CM920181; Cystic fibrosis; Missense/nonsense CM920182; Cystic fibrosis; Missense/nonsense CM920183; Cystic fibrosis; Missense/nonsense CM067771; Cystic fibrosis; Missense/nonsense CM962481; Cystic fibrosis; Missense/nonsense CM043475; Cystic fibrosis; Missense/nonsense CM931155; Cystic fibrosis; Missense/nonsense CM931156; Cystic fibrosis; Missense/nonsense CM032556; Cystic fibrosis; Missense/nonsense CM972959; Cystic fibrosis; Missense/nonsense CM003258; Bronchiectasis, idiopathic; Missense/nonsense CM972960; Cystic fibrosis; Missense/nonsense CM920184; Cystic fibrosis; Missense/nonsense CM930133; Cystic fibrosis; Missense/nonsense CM003259; Cystic fibrosis; Missense/nonsense CM931157; Cystic fibrosis; Missense/nonsense CM930134; Cystic fibrosis; Missense/nonsense CM993869; Cystic fibrosis; Missense/nonsense CM910075; Cystic fibrosis; Missense/nonsense CM940275; Cystic fibrosis; Missense/nonsense CM057580; Cystic fibrosis; Missense/nonsense CM941987; Cystic fibrosis ?; Missense/nonsense CM962482; Cystic fibrosis; Missense/nonsense CM057584; Cystic fibrosis; Missense/nonsense CM940277; Cystic fibrosis; Missense/nonsense CM940276; Cystic fibrosis; Missense/nonsense CM920185; Cystic fibrosis; Missense/nonsense CM962483; Cystic fibrosis; Missense/nonsense CM960290; Cystic fibrosis; Missense/nonsense CM920187; Cystic fibrosis; Missense/nonsense CM920186; Cystic fibrosis; Missense/nonsense CM980356; Cystic fibrosis; Missense/nonsense CM983579; Cystic fibrosis; Missense/nonsense CM066546; Pancreatitis, chronic ?; Missense/nonsense CM024695; Cystic fibrosis; Missense/nonsense CM043476; Asthma; Missense/nonsense CM067742; Azoospermia; Missense/nonsense CM067743; Cystic fibrosis ?; Missense/nonsense CM952056; Cystic fibrosis; Missense/nonsense CM920188; Cystic fibrosis ?; Missense/nonsense CM057575; Cystic fibrosis ?; Missense/nonsense CM091997; Congenital absence of vas deferens; Missense/nonsense CM993870; Cystic fibrosis; Missense/nonsense CM970297; Cystic fibrosis; Missense/nonsense CM930135; Cystic fibrosis; Missense/nonsense CM962485; Cystic fibrosis; Missense/nonsense CM900061; Cystic fibrosis; Missense/nonsense CM962484; Cystic fibrosis; Missense/nonsense CM940278; Cystic fibrosis; Missense/nonsense CM920189; Cystic fibrosis; Missense/nonsense CM930136; Cystic fibrosis; Missense/nonsense CM055928; Cystic fibrosis ?; Missense/nonsense CM067732; Cystic fibrosis ?; Missense/nonsense CM055122; Congenital absence of vas deferens; Missense/nonsense CM003260; Cystic fibrosis; Missense/nonsense CM940279; Cystic fibrosis; Missense/nonsense CM920190; Cystic fibrosis; Missense/nonsense CM972961; Cystic fibrosis; Missense/nonsense CM992307; Cystic fibrosis; Missense/nonsense CM962486; Cystic fibrosis; Missense/nonsense CM920191; Cystic fibrosis; Missense/nonsense CM952057; Cystic fibrosis; Missense/nonsense CM910076; Cystic fibrosis; Missense/nonsense CM972962; Cystic fibrosis; Missense/nonsense CM034794; Congenital absence of vas deferens; Missense/nonsense CM993871; Cystic fibrosis; Missense/nonsense CM972963; Cystic fibrosis; Missense/nonsense CM067747; Congenital absence of vas deferens; Missense/nonsense CM920192; Cystic fibrosis; Missense/nonsense CM962487; Cystic fibrosis; Missense/nonsense CM930137; Cystic fibrosis; Missense/nonsense CM900062; Cystic fibrosis; Missense/nonsense CM983580; Cystic fibrosis; Missense/nonsense CM941988; Cystic fibrosis; Missense/nonsense CM043477; Cystic fibrosis; Missense/nonsense CM090071; Cystic fibrosis; Missense/nonsense CM972964; Cystic fibrosis; Missense/nonsense CM067762; Cystic fibrosis; Missense/nonsense CM973398; Congenital absence of vas deferens; Missense/nonsense CM994789; Congenital absence of vas deferens; Missense/nonsense CM920193; Cystic fibrosis; Missense/nonsense CM993872; Cystic fibrosis; Missense/nonsense CM970298; Congenital absence of vas deferens; Missense/nonsense CM931158; Cystic fibrosis; Missense/nonsense CM067760; Cystic fibrosis ?; Missense/nonsense CM993873; Cystic fibrosis; Missense/nonsense CM970299; Congenital absence of vas deferens; Missense/nonsense CM993874; Cystic fibrosis; Missense/nonsense CM031946; Primary sclerosing cholangitis; Missense/nonsense CM920194; Cystic fibrosis; Missense/nonsense CM034795; Bronchiectasis; Missense/nonsense CM055923; Cystic fibrosis; Missense/nonsense CM057574; Cystic fibrosis; Missense/nonsense CM087538; Cystic fibrosis; Missense/nonsense CM950257; Congenital absence of vas deferens; Missense/nonsense CM067737; Cystic fibrosis; Missense/nonsense CM024696; Cystic fibrosis; Missense/nonsense CM983581; Cystic fibrosis; Missense/nonsense CM970300; Congenital absence of vas deferens; Missense/nonsense CM940280; Cystic fibrosis; Missense/nonsense CM057572; Cystic fibrosis; Missense/nonsense CM024697; Cystic fibrosis; Missense/nonsense CM067755; Congenital absence of vas deferens; Missense/nonsense CM071596; Congenital absence of vas deferens; Missense/nonsense CM983582; Cystic fibrosis; Missense/nonsense CM043478; Cystic fibrosis ?; Missense/nonsense CM931159; Cystic fibrosis; Missense/nonsense CM034796; Congenital absence of vas deferens; Missense/nonsense CM931253; Congenital absence of vas deferens; Missense/nonsense CM960291; Cystic fibrosis; Missense/nonsense CM067773; Congenital absence of vas deferens; Missense/nonsense CM043479; Cystic fibrosis; Missense/nonsense CM972965; Cystic fibrosis; Missense/nonsense CM024698; Obstructive azoospermia; Missense/nonsense CM993875; Cystic fibrosis; Missense/nonsense CM043480; Cystic fibrosis; Missense/nonsense CM962488; Cystic fibrosis; Missense/nonsense CM993876; Cystic fibrosis; Missense/nonsense CM980357; Elevated sweat chloride concentration; Missense/nonsense CM067744; Cystic fibrosis; Missense/nonsense CM034797; Congenital absence of vas deferens; Missense/nonsense CM993877; Cystic fibrosis; Missense/nonsense CM067753; Cystic fibrosis; Missense/nonsense CM031947; Cystic fibrosis; Missense/nonsense CR020830; Cystic fibrosis ?; Regulatory CR971940; Congenital absence of vas deferens; Regulatory CR991535; Cystic fibrosis; Regulatory CR015139; Cystic fibrosis; Regulatory CR962504; Cystic fibrosis ?; Regulatory CR015138; Cystic fibrosis; Regulatory CR951548; Cystic fibrosis; Regulatory CS075091; Cystic fibrosis; Splicing CS920988; Cystic fibrosis ?; Splicing CS941436; Cystic fibrosis; Splicing CS983586; Cystic fibrosis; Splicing CS962493; Cystic fibrosis; Splicing CS941441; Cystic fibrosis; Splicing CS900233; Cystic fibrosis; Splicing CS993880; Cystic fibrosis; Splicing CS011529; Hypertrypsinaemia, neonatal; Splicing CS962494; Cystic fibrosis ?; Splicing CS067809; Cystic fibrosis; Splicing CS014912; Cystic fibrosis; Splicing CS962765; Cystic fibrosis; Splicing CS022488; Cystic fibrosis; Splicing CS067810; Cystic fibrosis; Splicing CS962495; Cystic fibrosis; Splicing CS941442; Cystic fibrosis; Splicing CS032691; Cystic fibrosis ?; Splicing CS067811; Cystic fibrosis; Splicing CS034836; Foetal hyperechogenic bowel; Splicing CS043633; Cystic fibrosis; Splicing CS951372; Cystic fibrosis; Splicing CS056083; Cystic fibrosis; Splicing CS952058; Cystic fibrosis ?; Splicing CS961504; Cystic fibrosis; Splicing CS001828; Cystic fibrosis; Splicing CS067812; Cystic fibrosis; Splicing CS951373; Cystic fibrosis; Splicing CS971651; Cystic fibrosis; Splicing CS920734; Cystic fibrosis; Splicing CS972967; Cystic fibrosis; Splicing CS930768; Cystic fibrosis; Splicing CS993881; Cystic fibrosis ?; Splicing CS951374; Cystic fibrosis; Splicing CS951375; Cystic fibrosis; Splicing CS910600; Cystic fibrosis ?; Splicing CS067813; Congenital absence of vas deferens?; Splicing CS031771; Cystic fibrosis; Splicing CS930769; Cystic fibrosis; Splicing CS031772; Cystic fibrosis; Splicing CS043634; Cystic fibrosis ?; Splicing CS971656; Cystic fibrosis; Splicing CS004690; Cystic fibrosis; Splicing CS993884; Cystic fibrosis; Splicing CS952059; Cystic fibrosis; Splicing CS024711; Congenital absence of vas deferens; Splicing CS952060; Congenital absence of vas deferens ?; Splicing CS952061; Cystic fibrosis ?; Splicing CS971657; Cystic fibrosis; Splicing CS042144; Splice variants, association with; Splicing CS951377; Cystic fibrosis; Splicing CS983697; Obstructive azoospermia; Splicing CS051680; Cystic fibrosis; Splicing CS931162; Cystic fibrosis; Splicing CS941994; Cystic fibrosis; Splicing CS021743; Cystic fibrosis; Splicing CS066622; Pancreatitis, chronic ?; Splicing CS900235; Cystic fibrosis; Splicing CS075092; Cystic fibrosis; Splicing CS024706; Congenital absence of vas deferens; Splicing CS962497; Cystic fibrosis; Splicing CS015368; Congenital absence of vas deferens; Splicing CS962498; Cystic fibrosis; Splicing CS024707; Cystic fibrosis ?; Splicing CS971652; Cystic fibrosis; Splicing CS951376; Cystic fibrosis; Splicing CS034837; Cystic fibrosis; Splicing CS900234; Cystic fibrosis; Splicing CS941443; Cystic fibrosis; Splicing CS971653; Cystic fibrosis; Splicing CS087540; Cystic fibrosis; Splicing CS920740; Cystic fibrosis; Splicing CS034839; Cystic fibrosis; Splicing CS951378; Cystic fibrosis; Splicing CS930776; Cystic fibrosis; Splicing CS962502; Cystic fibrosis ?; Splicing CS962501; Congenital absence of vas deferens ?; Splicing CS087310; Pancreatitis, idiopathic chronic ?; Splicing CS056084; Cystic fibrosis ?; Splicing CS930777; Cystic fibrosis; Splicing CS941446; Cystic fibrosis; Splicing CS983591; Cystic fibrosis; Splicing CS013084; Cystic fibrosis; Splicing CS066623; Pancreatitis, chronic ?; Splicing CS067814; Cystic fibrosis; Splicing CS962503; Cystic fibrosis ?; Splicing CS952062; Cystic fibrosis ?; Splicing CS941995; Cystic fibrosis; Splicing CS024712; Cystic fibrosis; Splicing CS930770; Cystic fibrosis; Splicing CS001829; Cystic fibrosis; Splicing CS930771; Cystic fibrosis; Splicing CS014987; Cystic fibrosis; Splicing CS941444; Cystic fibrosis; Splicing CS982114; Cystic fibrosis; Splicing CS004894; Congenital absence of vas deferens; Splicing CS086376; Cystic fibrosis; Splicing CS930772; Cystic fibrosis; Splicing CS930773; Cystic fibrosis; Splicing CS920735; Cystic fibrosis; Splicing CS024708; Cystic fibrosis; Splicing CS941445; Cystic fibrosis; Splicing CS920736; Cystic fibrosis; Splicing CS930774; Cystic fibrosis; Splicing CS972968; Cystic fibrosis; Splicing CS024709; Cystic fibrosis; Splicing CS962489; Cystic fibrosis; Splicing CS983587; Cystic fibrosis; Splicing CS941437; Cystic fibrosis; Splicing CS000849; Cystic fibrosis; Splicing CS993879; Cystic fibrosis ?; Splicing CS040534; Cystic fibrosis ?; Splicing CS962490; Cystic fibrosis ?; Splicing CS024705; Cystic fibrosis; Splicing CS971645; Cystic fibrosis; Splicing CS003286; Cystic fibrosis; Splicing CS042806; Cystic fibrosis; Splicing CS941989; Cystic fibrosis; Splicing CS982112; Cystic fibrosis; Splicing CS962499; Cystic fibrosis ?; Splicing CS962500; Cystic fibrosis ?; Splicing CS021161; Cystic fibrosis; Splicing CS983589; Cystic fibrosis ?; Splicing CS032692; Cystic fibrosis ?; Splicing CS011530; Bronchiectasis; Splicing CS920737; Cystic fibrosis; Splicing CS920738; Cystic fibrosis; Splicing CS972969; Cystic fibrosis; Splicing CS972970; Cystic fibrosis ?; Splicing CS972883; Cystic fibrosis; Splicing CS994359; Cystic fibrosis; Splicing CS067815; Cystic fibrosis; Splicing CS034838; Cystic fibrosis; Splicing CS040535; Cystic fibrosis; Splicing CS024710; Cystic fibrosis; Splicing CS066624; Pancreatitis, chronic ?; Splicing CS042143; Splice variants, association with; Splicing CS993882; Cystic fibrosis; Splicing CS056085; Cystic fibrosis; Splicing CS920739; Cystic fibrosis; Splicing CS930775; Cystic fibrosis; Splicing CS983590; Cystic fibrosis ?; Splicing CS941990; Cystic fibrosis; Splicing CS971646; Cystic fibrosis; Splicing CS931160; Cystic fibrosis ?; Splicing CS000850; Cystic fibrosis; Splicing CS920733; Cystic fibrosis; Splicing CS951371; Cystic fibrosis; Splicing CS086375; Cystic fibrosis; Splicing CS930762; Cystic fibrosis; Splicing CS983588; Cystic fibrosis; Splicing CS971647; Cystic fibrosis; Splicing CS941438; Cystic fibrosis; Splicing CS930763; Cystic fibrosis; Splicing CS930764; Cystic fibrosis; Splicing CS043632; Cystic fibrosis; Splicing CS002122; Sarcoidosis, susceptibility to; Splicing CS066625; Pancreatitis, chronic ?; Splicing CS066626; Pancreatitis, chronic ?; Splicing CS971648; Cystic fibrosis; Splicing CS910419; Cystic fibrosis; Splicing CS982113; Cystic fibrosis; Splicing CS930765; Cystic fibrosis; Splicing CS971649; Cystic fibrosis; Splicing CS941991; Cystic fibrosis; Splicing CS941439; Cystic fibrosis; Splicing CS962491; Cystic fibrosis ?; Splicing CS971650; Cystic fibrosis; Splicing CS001826; Cystic fibrosis; Splicing CS941440; Cystic fibrosis; Splicing CS910420; Cystic fibrosis; Splicing CS993883; Cystic fibrosis ?; Splicing CS971654; Cystic fibrosis; Splicing CS931161; Cystic fibrosis; Splicing CS971655; Cystic fibrosis; Splicing CS043635; Hypochloraemic alkalosis; Splicing CS075093; Congenital absence of vas deferens; Splicing CS067816; Cystic fibrosis ?; Splicing CS941992; Cystic fibrosis ?; Splicing CS001827; Cystic fibrosis; Splicing CS011527; Cystic fibrosis; Splicing CS930766; Cystic fibrosis; Splicing CS941993; Cystic fibrosis ?; Splicing CS075094; Bronchiectasis ?; Splicing CS991342; Cystic fibrosis; Splicing CS962492; Cystic fibrosis; Splicing CS056086; Cystic fibrosis ?; Splicing CS011528; Cystic fibrosis; Splicing CS056087; Cystic fibrosis ?; Splicing CS994245; Cystic fibrosis; Splicing CS930767; Cystic fibrosis; Splicing CS015367; Cystic fibrosis; Splicing |
GWASdb (count: 30) (view all) | rs4148682; Suicide attempts in bipolar disorder; bipolar disorder
rs2283054; Suicide attempts in bipolar disorder; bipolar disorder rs2237721; Suicide attempts in bipolar disorder; bipolar disorder rs4148686; ECG dimensions, brachial artery endothelial function, treadmill exercise responses; cardiovascular system disease rs4148688; Statin-induced myopathy; muscular disease rs4148698; Suicide attempts in bipolar disorder; bipolar disorder rs2237725; Suicide attempts in bipolar disorder; bipolar disorder
rs4148703; Suicide attempts in bipolar disorder; bipolar disorder rs213950; Non-alcoholic fatty liver disease histology (other); fatty liver disease rs1896887; Statin-induced myopathy; muscular disease rs1896886; Suicide attempts in bipolar disorder; bipolar disorder rs3808185; Suicide attempts in bipolar disorder; bipolar disorder rs1469486; Suicide attempts in bipolar disorder; bipolar disorder rs4148709; Suicide attempts in bipolar disorder; bipolar disorder rs3808183; Suicide attempts in bipolar disorder; bipolar disorder rs11978434; IgE levels; selective IgE deficiency disease rs1042077; IgE levels; selective IgE deficiency disease rs2299445; Suicide attempts in bipolar disorder; bipolar disorder rs2237726; Suicide attempts in bipolar disorder; bipolar disorder rs17451754; Suicide attempts in bipolar disorder; bipolar disorder rs7797932; Suicide attempts in bipolar disorder; bipolar disorder rs213988; Paclitaxel sensitivity in NCI60 cancer cell lines; breast cancer|ovarian cancer rs2254742; Suicide attempts in bipolar disorder; bipolar disorder rs12534186; Suicide attempts in bipolar disorder; bipolar disorder rs17140297; IgE levels; selective IgE deficiency disease rs2283058; Suicide attempts in bipolar disorder; bipolar disorder rs6980032; IgE levels; selective IgE deficiency disease rs17549557; IgE levels; selective IgE deficiency disease rs4148724; Suicide attempts in bipolar disorder; bipolar disorder rs4727855; IgE levels; selective IgE deficiency disease |
PTM | Modification Sites |
---|---|
Phosphorylation (count: 39) (view all) | 1014 VVAVLQPYIFVATVP dbPAF
1019 QPYIFVATVPVIVAF dbPAF 1176 MPTEGKPTKSTKPYK dbPAF 1362 CLARSVLSKAKILLL dbPAF 1424 EENKVRQYDSIQKLL dbPAF 1444 FRQAISPSDRVKLFP dbPAF 1456 LFPHRNSSKCKSKPQ dbPAF
1471 IAALKEETEEEVQDT dbPAF 256 DQRAGKISERLVITS dbPAF 291 MIENLRQTELKLTRK dbPAF 422 NNNNRKTSNGDDSLF dbPAF 45 YQIPSVDSADNLSEK dbPAF 50 VDSADNLSEKLEREW dbPAF 511 ENIIFGVSYDEYRYR dbPAF 512 NIIFGVSYDEYRYRS dbPAF 515 FGVSYDEYRYRSVIK dbPAF 549 GEGGITLSGGQRARI dbPAF 582 FGYLDVLTEKEIFES dbPAF 604 NKTRILVTSKMEHLK dbPAF 605 KTRILVTSKMEHLKK dbPAF 641 QNLQPDFSSKLMGCD dbPAF 660 FSAERRNSILTETLH dbPAF 670 TETLHRFSLEGDAPV dbPAF 682 APVSWTETKKQSFKQ dbPAF 686 WTETKKQSFKQTGEF dbPAF 700 FGEKRKNSILNPINS dbPAF 707 SILNPINSIRKFSIV dbPAF 712 INSIRKFSIVQKTPL dbPAF 717 KFSIVQKTPLQMNGI dbPAF 737 EPLERRLSLVPDSEQ dbPAF 753 EAILPRISVISTGPT dbPAF 768 LQARRRQSVLNLMTH dbPAF 774 QSVLNLMTHSVNQGQ dbPAF 776 VLNLMTHSVNQGQNI dbPAF 790 IHRKTTASTRKVSLA dbPAF 795 TASTRKVSLAPQANL dbPAF 809 LTELDIYSRRLSQET dbPAF 813 DIYSRRLSQETGLEI dbPAF 94 FLYLGEVTKAVQPLL dbPAF |
Ubiquitination (count: 1) | 688 ETKKQSFKQTGEFGE PLMD |