### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = USB1) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "USB1" "U6 snRNA biogenesis 1" "16" "q13" "unknown" "LRG_352" "UD_139141961769" "" "http://www.LOVD.nl/USB1" "" "1" "25792" "79650" "613276" "1" "1" "1" "1" "alias c16orf57\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/USB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-11-24 00:00:00" "00006" "2016-01-26 00:58:55" "00000" "2024-04-19 20:27:30" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00023902" "USB1" "transcript variant 1" "003" "NM_024598.3" "" "NP_078874.2" "" "" "" "-111" "2176" "798" "58035277" "58055527" "00001" "2014-02-03 10:56:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "02484" "PN" "poikiloderma, with neutropenia (PN)" "AR" "604173" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "USB1" "02484" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00057918" "" "" "" "3" "" "01519" "{PMID:Colombo 2012:22269211}" "" "F" "?" "(France)" ">37y" "0" "" "" "African" "" "00057919" "" "" "" "1" "" "01519" "{PMID: Colombo 2012: 22269211}, {PMID:Migliaccio 1999:10320533}" "" "F" "no" "Italy" ">22y" "0" "" "" "white" "" "00057920" "" "" "" "1" "" "01519" "{PMID:Colombo 2012: 22269211}; {PMID:Altunay 2010:20860557}" "" "M" "yes" "Turkey" ">23y" "0" "" "" "white" "" "00057921" "" "" "" "2" "" "01519" "{PMID: Volpi 2010: 20004881}, {PMID:Concolino 2010:20734427}" "" "M" "yes" "Italy" ">25y" "0" "" "" "white" "" "00057922" "" "" "" "2" "" "01519" "{PMID: Volpi 2010: 20004881}, {PMID:Concolino 2010:20734427}" "" "F" "yes" "Italy" ">20y" "0" "" "" "white" "" "00057923" "" "" "" "2" "" "01519" "{PMID: Volpi 2010: 20004881}, {PMID:Concolino 2010:20734427}" "" "F" "yes" "Italy" ">18y" "0" "" "" "white" "" "00057924" "" "" "" "1" "" "01519" "{PMID: Colombo 2012: 22269211}" "" "M" "yes" "Turkey" ">11y" "0" "" "" "white" "" "00057925" "" "" "" "1" "" "01519" "{PMID: Colombo 2012: 22269211}" "his mother had a miscarriage and an elder affected sister (not tested) died during infancy" "M" "yes" "Turkey" ">18y" "0" "" "" "white" "" "00057926" "" "" "" "2" "" "00006" "{PMID:Pianigiani 2001:11737690}, {PMID:Volpi 2010:20004881}" "Compound heterozygous affected patient" "F" "no" "Italy" ">22y" "0" "" "" "white" "" "00059215" "" "" "" "1" "" "00571" "{PMID:Walne 2010:20817924}" "" "F" "no" "" "?" "0" "" "" "?" "" "00059218" "" "" "" "1" "" "00571" "{PMID:Arnold 2010:20618321}" "The patient has an affected cousin, not molecularly tested. The mothers of the two cousins are sisters and the fathers are cousins." "M" "?" "" ">04y" "0" "" "" "european mediterranean area in Montenegro" "" "00059219" "" "" "" "1" "" "00571" "{PMID:Mostefai 2008:18925663}, {PMID:Tanaka 2010:20503306}, {PMID:Walne et al 2010:20817924}" "the patient has an affected sister and an affected Brother." "F" "yes" "Morocco" ">08y" "0" "" "" "Moroccan" "" "00059220" "" "" "" "1" "" "00571" "{PMID:Mostefai 2008:18925663 }, {PMID:Tanaka 2010:20503306}, {PMID:Walne 2010:20817924}" "this patient has an affected sister (LOVD ID 59219) and an affected brother" "F" "yes" "Morocco" "" "0" "" "" "Moroccan" "" "00059221" "" "" "" "1" "" "00571" "{PMID:Mostefai 2008:18925663},{PMID:Tanaka 2010:20503306},{PMID:Walne 2010:20817924}" "the patient has two elder affected sisters (LOVD ID 59219 and 59220)" "M" "yes" "Morocco" "" "0" "" "" "Moroccan" "" "00089040" "" "" "" "1" "" "00571" "{PMID:Walne 2010:20817924}" "affected sibling is reported" "?" "yes" "" "" "0" "" "" "" "" "00089042" "" "" "" "1" "" "00571" "{PMID: Clericuzio 2011: 21271650}; {PMID: Chantorn 2012: 21967010}" "patient has an affected brother" "M" "no" "India" ">05y" "0" "" "" "" "" "00089055" "" "" "" "1" "" "00571" "{PMID: Piard 2012: 21872685}" "" "F" "no" "" ">04y" "0" "" "" "" "" "00089060" "" "" "" "1" "" "00571" "{PMID: Suter et al.2016: 27247962}" "" "?" "?" "" "" "0" "" "" "" "" "00089064" "" "" "" "1" "" "00571" "{PMID: Clericuzio 2011: 21271650}" "" "F" "no" "" ">07y" "0" "" "" "6.25% Cherokee, 93,75% white" "" "00090108" "" "" "" "1" "" "00571" "{PMID: Walne 2010: 20817924 }" "" "M" "yes" "" "" "0" "" "" "" "" "00090109" "" "" "" "1" "" "00571" "{PMID: Clericuzio 2011:21271650 } {PMID: Wang 2003:12673665}" "She has an affected fraternal twin Brother." "F" "no" "Scotland" ">04y" "0" "" "" "" "" "00090110" "" "" "" "1" "" "00571" "{PMID: Clericuzio 2011: 21271650}" "" "M" "?" "United States" "" "0" "" "" "Navajo" "" "00090111" "" "" "" "1" "" "00571" "{PMID: Farruggia 2014: 23823120}" "" "F" "no" "Italy" ">03y" "0" "" "" "" "" "00090113" "" "" "" "1" "" "00571" "{PMID:Walne 2010:20817924}" "" "F" "no" "" "" "0" "" "" "" "" "00090114" "" "" "" "1" "" "00571" "{PMID:Clericuzio 2011:21271650}" "" "F" "?" "(England)" ">04y" "0" "" "patient received GCSF" "Turkish-British" "" "00090115" "" "" "" "1" "" "00571" "{PMID:Walne 2016:27612988}" "" "M" "yes" "Afghanistan" "" "0" "" "" "" "" "00090116" "" "" "" "1" "" "00571" "{PMID:Walne 2016:27612988}" "" "F" "no" "Afghanistan" "" "0" "" "" "" "" "00154504" "" "" "" "2" "" "00571" "{PMID:Aglaguel 2017:28353165}" "" "F" "yes" "Morocco" ">11y" "0" "" "" "" "" "00154505" "" "" "" "1" "" "00571" "{PMID:Aglaguel 2017:28353165}" "" "F" "yes" "Morocco" ">13y" "0" "" "" "" "Patient 3, family 2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00057918" "02484" "00057919" "02484" "00057920" "02484" "00057921" "02484" "00057922" "02484" "00057923" "02484" "00057924" "02484" "00057925" "02484" "00057926" "02484" "00059215" "02484" "00059218" "02484" "00059219" "02484" "00059220" "02484" "00059221" "02484" "00089040" "02484" "00089042" "02484" "00089055" "02484" "00089060" "02484" "00089064" "02484" "00090108" "02484" "00090109" "02484" "00090110" "02484" "00090111" "02484" "00090113" "02484" "00090114" "02484" "00090115" "02484" "00090116" "02484" "00154504" "02484" "00154505" "02484" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02484 ## Count = 30 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000044568" "02484" "00057918" "01519" "Familial, autosomal recessive" "" "autosomal recessive poikiloderma (early onset) with ichthyosis, palmoplantar keratoderma, pachyonychia, mild photosensitivity, chronic neutropenia, recalcitrant pulmonary disease, evidence reduced reactive oxygen species production in neutrophils" "0d" "36y" "" "" "" "" "" "" "" "0000044569" "02484" "00057919" "01519" "Isolated (sporadic)" "" "osteopetrosis at 2 months; increased bone density; sclerosis of vertebrae and skull; delayed skeletal maturation" "6m" "21y" "" "" "" "" "" "" "" "0000044570" "02484" "00057920" "01519" "Familial, autosomal recessive" "" "Widespread poikiloderma, neutropenia, sun intolerance, erithema, saddle nose, maxillary hypoplasia, micrognathia, zygodactylya, osteopenia, recurrent leg ulcelrs with severe sepsis, low stature, hypogonadism." "00y06m" "22y" "" "" "" "" "" "" "" "0000044571" "02484" "00057921" "01519" "Familial" "" "poikiloderma, non cyclic neutropenia, pachyonichia; midface hypoplasia, depressed nasal bridge, mild prognathism, frontal bossing, carious teeth, hyperlaxity of fingers, splenomegalia" "6m" "21y" "" "" "" "" "" "" "" "0000044572" "02484" "00057922" "01519" "Familial" "" "Midface Hypoplasia, Hypoplasia of lateral eyebrows, hypertelorism, hypermobile fingers with beak of swan appearance" "8m" "16y" "" "" "" "" "" "" "" "0000044573" "02484" "00057923" "01519" "Familial" "" "Microretrognathism, low posterior hairline, lateral hypoplasia of eyebrows, hypoplasia of nasal aleas, hypermobile fingers. Increased CPK and LDK. Myelodysplastic features." "10m" "14y" "" "" "" "" "" "" "" "0000044574" "02484" "00057924" "01519" "Familial, autosomal recessive" "" "Poikiloderma, neutropenia, plantar hyperkeratosis with desquamation, pachyonychia, caries tendency, saddle nose, widening of femoral metaphysis, recurrent pulmonary infections, low stature (<3rd centile)" "00y06m" "10y" "" "" "" "" "" "" "" "0000044575" "02484" "00057925" "01519" "Familial, autosomal recessive" "" "poikiloderma, neutropenia, palmoplantar and ear helixes hyperkeratosis, dry scalp hair, toe nails subungueal hyperkeratosis, delayed dental eruption, caries tendency, saddle short nose, flat broad face, caput quadratum, retrognathia, myelodysplasia, splenomegalia, recurrent pulmonary infections and meningitis, low stature (<3rd centile), hypogonadism.\r\nAn affected elder sister (not tested) died during infancy" "00y05m" "17y" "" "" "" "" "" "" "" "0000044576" "02484" "00057926" "00006" "Familial, autosomal recessive" "" "Diffuse poikiloderma, severe neutropenia, recurrent infections (otitis, bronchitis and gastroenteritis), saddle nose, hypertelorism, short stature, palmoplantar hyperkeratosis, onychodystrophy, delayed bone maturation, moderate splenomegalia" "00y06m" "20y" "" "" "" "" "" "" "" "0000045703" "02484" "00057918" "00571" "Familial, autosomal recessive" "36y" "Poikiloderma, palmoplantar hyperkeratosis, nail toes abnormalities, multiple bone fractures and calcification, neutropenia, chronic haemolysis, recurrent infections since infancy, atrophic polychondritis" "<01y" "36y" "" "" "" "" "" "" "" "0000045723" "02484" "00059215" "00571" "Familial, autosomal recessive" "?" "diagnosed as affected with Rothmund-Thomson syndrome; poikiloderma (<2y), nail dystrophy, low neutrophil count, hypo-cellular bone marrow" "<02y" "" "" "" "" "" "" "" "" "0000045725" "02484" "00059218" "00571" "Familial, autosomal recessive" "03y" "poikiloderma on sun-exposed areas (arms, face and ears) and trunk; palmoplantar keratoderma; pachyonychia of the great toenails; photosensitivity; neutropenia; recurrent viral and bacterial infections; hepatosplenomegaly; nondescented or retractile testes; growth delay; elevated lactate dehydrogenase (>1000 U/L); transient thrombocytopenia; elevated ferritin (>1000 g/L)" "" "04y" "" "" "" "" "" "" "" "0000045726" "02484" "00059219" "00571" "Familial, autosomal recessive" "00y04m" "poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; myeloid abnormalities; splenomegaly; chronic pulmonary infiltrates following chest X-rays." "" "08y" "" "" "" "" "" "" "" "0000045727" "02484" "00059220" "00571" "Familial, autosomal recessive" "" "poikiloderma, photosensitivity with blistering; atrophic scars on dorsum of limbs; pachyonychia on big toenails; palmoplantar keratosis; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; leukopenia and neutropenia; maturation defects in bone marrow lineages; splenomegaly; chronic pulmonary infiltrates following chest X-rays." "" "" "" "" "" "" "" "" "" "0000045728" "02484" "00059221" "00571" "Familial, autosomal recessive" "" "poikiloderma, photosensitivity; atrophic scars on dorsum of limbs; verrucous lesions; milia; carious teeth; lachrymal duct obstruction; recurrent bronchopneumonitis; recurrent otitis media; transient thrombocytopenia and neutropenia; maturation defects in bone marrow lineages; chronic pulmonary infiltrates following chest X-rays." "" "" "skin manifestations at 6m" "" "" "" "" "" "" "0000068440" "02484" "00089042" "00571" "Familial, autosomal recessive" "04y" "Birth weight, length, and head circumference were all normal. \r\nA rash on lower legs and feet developed at approximately 10 months of age, then spread along the hands, forearms, thighs, buttock, ears and face. Poikiloderma spared the trunk, abdomen, and popliteal and antecubital fossae. \r\nMultiple infections, including rhinitis, otitis media and pneumonia since 1 year of age, were reported.\r\nNail, hair, teeth, palms and soles were all normal. \r\nNo hepatosplenomegaly. No osteopenia. Social and cognitive development were within normal limits." "00y10m?" "" "" "" "" "" "" "" "" "0000068444" "02484" "00089055" "00571" "Familial, autosomal recessive" "" "generalized poikiloderma, which appeared in the first days of life, neutropenia, photosensitivity, dental dysplasia and nail dystrophy; no history of recurrent infections was reported; birth parameters were normal; no growth delay, no intellectual disability" "" "" "" "" "" "" "" "" "" "0000068448" "02484" "00089060" "00571" "Familial, autosomal recessive" "?" "poikiloderma, neutropenia, short stature, hypogonadotropic hypogonadism (on hormonal replacement therapy) and noncaseating granuloma involving the lungs with interstitial lung disease and bronchiectasis." "?" "?" "" "" "" "" "" "" "" "0000068450" "02484" "00089040" "00571" "Familial, autosomal recessive" "" "poikiloderma, nail dystrophy, abnormal ear, short stature, developmental delay, low white blood cells, MDS changes" "" "" "" "" "" "" "" "" "" "0000068458" "02484" "00089064" "00571" "Familial, autosomal recessive" "?" "Cutaneous rash started at 4 months of age, then evolved in poikiloderma; neutropenia; recurrent otitis media, bronchitis, cellulitis; pachyonychia; autoimmune thyroiditis; history of chronic diarrhea in infancy; calcinosis cutis. \r\nThe patient received GCSF.\r\nBone marrow studies were normal." "00y04m" "01y" "" "" "" "" "" "" "" "0000069481" "02484" "00090108" "00571" "Familial, autosomal recessive" "" "poikiloderma; sparse eyelashes; dental problems; skeletal alterations; enlarged liver-spleen; phimosis; short stature; neutropenia; myelodysplastic changes" "" "" "" "" "" "" "" "" "" "0000069482" "02484" "00090109" "00571" "Familial, autosomal recessive" "02y?" "poikiloderma; neutropenia since Birth; recurrent sinopulmonary infections; hyperkeratosis; calcinosis cutis; nail dystrophy" "00y02m" "" "" "" "" "" "" "" "" "0000069483" "02484" "00090110" "00571" "Familial, autosomal recessive" "" "cutaneous rash since age 5 m; neutropenia; transient thrombocytopenia; pachyonychia; chronic cough; history of diarrhea; normal bone marrow studies." "00y05m" "00y09m" "" "" "" "" "" "" "" "0000069484" "02484" "00090111" "00571" "Familial, autosomal recessive" "" "low Birth weight; cutaneous changes since age 6m then evolved in poikiloderma; neutropenia since age 41d; pachyonychia; hyperkeratosis; dysmorphic features (small nose, depressed nasal bridge, mild micrognathia, prominent forehead); sparse hair and eyebrows;\r\nfailure to thrive and frequent regurgitations in early infancy.\r\n Bone marrow studies showed decreased cellularity and mild abnormal differentiation of myeloid and erythroid precursors." "" "" "" "" "" "" "" "" "" "0000069486" "02484" "00090113" "00571" "Familial, autosomal recessive" "" "poikiloderma; neutropenia; prominent forehead; dental problems." "" "" "" "" "" "" "" "" "" "0000069487" "02484" "00090114" "00571" "Familial, autosomal recessive" "" "Poikiloderma started as a rash since age 3 m; neutropenia; pachyonychia; hyperkeratosis; cellulitis; mastoiditis; history of mild anemia; increased myeloid precursors in bone marrow." "00y03m" "01y08m" "" "" "" "" "" "" "" "0000069488" "02484" "00090115" "00571" "Familial, autosomal recessive" "" "poikiloderma; neutropenia; nail dystrophy; leukoplakia; abnormal facies; bone marrow failure; immunodeficiency." "" "" "" "" "" "" "" "" "" "0000069489" "02484" "00090116" "00571" "Familial, autosomal recessive" "" "abnormal skin pigmentation; neutropenia, nail dystrophy; immune deficiency." "" "" "" "" "" "" "" "" "" "0000127240" "02484" "00154504" "00571" "Familial, autosomal recessive" "" "poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, sparse eyebrows, dental caries, failure to thrive, hypogonadism, delayed puberty, osteopenia, neutropenia, decreased NK cells, polyclonal hypergammaglobulinemia, recurrent pulmonary infections, bilateral bronchiectasis." "" "" "" "" "" "" "" "Poikiloderma with Neutropenia" "" "0000127241" "02484" "00154505" "00571" "Unknown" "" "generalized poikiloderma, pachyonychia, palmoplantar hyperkeratosis, atrophic scars, failure to thrive, photosensitivity, hypogonadism, delayed peberty, neutropenia, decreased number of CD8 cells, bilateral bronchiectasis." "00y01m" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000057881" "00057918" "1" "01519" "01519" "2011-09-14 16:30:26" "01519" "2011-09-26 17:17:00" "PCR;SEQ" "DNA" "" "" "0000057882" "00057919" "1" "01519" "01519" "2011-09-14 17:17:35" "00006" "2011-09-15 21:40:44" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000057883" "00057920" "1" "01519" "01519" "2011-09-26 17:53:05" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000057884" "00057921" "1" "01519" "01519" "2011-09-26 16:34:24" "01519" "2011-09-26 16:37:01" "PCR;RT-PCR;SEQ-NG-I" "DNA;RNA" "" "" "0000057885" "00057922" "1" "01519" "01519" "2011-09-26 16:45:00" "" "" "PCR;SEQ" "DNA" "" "" "0000057886" "00057923" "1" "01519" "01519" "2011-09-26 16:54:24" "" "" "PCR;SEQ" "DNA" "" "" "0000057887" "00057924" "1" "01519" "01519" "2011-09-14 16:56:03" "01519" "2011-09-14 17:35:49" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000057888" "00057925" "1" "01519" "01519" "2011-09-14 17:00:46" "01519" "2011-09-14 17:35:49" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000057889" "00057926" "1" "00006" "00003" "2010-11-25 16:23:12" "00001" "2016-02-26 05:45:17" "PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000059203" "00059215" "1" "00571" "00571" "2016-03-03 13:06:58" "" "" "PCR;SEQ" "DNA" "peripheral blood" "" "0000059204" "00059218" "1" "00571" "00571" "2016-03-03 15:49:21" "" "" "PCR;SEQ" "DNA" "blood" "" "0000059205" "00059219" "1" "00571" "00571" "2016-03-03 16:42:38" "" "" "arraySNP;PCR;SEQ" "DNA" "" "" "0000059206" "00059220" "1" "00571" "00571" "2016-03-03 17:09:35" "" "" "arraySNP;PCR;SEQ" "DNA" "" "" "0000059207" "00059221" "1" "00571" "00571" "2016-03-03 17:28:14" "" "" "arraySNP;PCR;SEQ" "DNA" "" "" "0000089184" "00089040" "1" "00571" "00571" "2016-11-28 14:58:14" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089186" "00089042" "1" "00571" "00571" "2016-11-28 15:36:16" "" "" "PCR;RT-PCR;SEQ" "DNA;RNA" "blood or EBV-transformed lymphoblastoid cell lines" "" "0000089199" "00089055" "1" "00571" "00571" "2016-11-28 16:25:22" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089202" "00089055" "1" "00571" "00571" "2016-11-28 16:36:48" "" "" "PCR;SEQ" "DNA" "blood" "" "0000089205" "00089060" "1" "00571" "00571" "2016-11-28 16:53:02" "" "" "PCR;SEQ" "DNA" "" "" "0000089209" "00089064" "1" "00571" "00571" "2016-11-28 17:23:04" "" "" "PCR;SEQ" "DNA" "blood or EBV-transformed lymphoblastoid cell lines" "" "0000090253" "00090108" "1" "00571" "00571" "2016-12-05 15:57:47" "" "" "PCR;SEQ" "DNA" "" "" "0000090254" "00090109" "1" "00571" "00571" "2016-12-05 16:27:00" "" "" "PCR;SEQ" "DNA" "" "" "0000090255" "00090110" "1" "00571" "00571" "2016-12-05 16:47:18" "" "" "PCR;SEQ" "DNA" "" "" "0000090256" "00090111" "1" "00571" "00571" "2016-12-05 17:06:23" "" "" "PCR;SEQ" "DNA" "blood" "" "0000090258" "00090113" "1" "00571" "00571" "2016-12-06 15:00:33" "" "" "PCR;SEQ" "DNA" "" "" "0000090259" "00090114" "1" "00571" "00571" "2016-12-06 15:11:51" "" "" "PCR;SEQ" "DNA" "" "" "0000090260" "00090115" "1" "00571" "00571" "2016-12-06 15:29:03" "" "" "PCR;SEQ" "DNA" "" "" "0000090261" "00090116" "1" "00571" "00571" "2016-12-06 15:46:57" "" "" "PCR;SEQ" "DNA" "" "" "0000155362" "00154504" "1" "00571" "00571" "2018-03-02 11:43:29" "" "" "PCR;SEQ" "DNA" "white blood cells" "" "0000155363" "00154505" "1" "00571" "00571" "2018-03-02 11:53:13" "" "" "PCR;SEQ" "DNA" "white blood cells" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{geneid}}" "0000057881" "USB1" "0000057882" "USB1" "0000057883" "USB1" "0000057884" "USB1" "0000057885" "USB1" "0000057886" "USB1" "0000057887" "USB1" "0000057888" "USB1" "0000057889" "USB1" "0000059203" "USB1" "0000059204" "USB1" "0000059205" "USB1" "0000059206" "USB1" "0000059207" "USB1" "0000089184" "USB1" "0000089186" "USB1" "0000089199" "USB1" "0000089202" "USB1" "0000089205" "USB1" "0000089209" "USB1" "0000090253" "USB1" "0000090254" "USB1" "0000090255" "USB1" "0000090256" "USB1" "0000090258" "USB1" "0000090259" "USB1" "0000090260" "USB1" "0000090261" "USB1" "0000155362" "USB1" "0000155363" "USB1" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 57 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000088207" "10" "99" "16" "58036463" "58036463" "del" "0" "01518" "USB1_000004" "g.58036463del" "" "Colombo 2010 ASHG, {PMID:Tanaka 2010:20503306}; {PMID:Walne 2010:20817924}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58002559del" "" "pathogenic" "" "0000088208" "11" "99" "16" "58036516" "58036516" "subst" "4.06597E-6" "01518" "USB1_000008" "g.58036516C>T" "" "{PMID: Colombo et al.2012: 22269211 } Colombo ASHG 2010 meeting" "" "" "" "Germline" "yes" "" "0" "" "" "g.58002612C>T" "" "pathogenic" "" "0000088209" "10" "99" "16" "58036551" "58036551" "subst" "0" "01518" "USB1_000005" "g.58036551T>G" "" "{PMID: Colombo et al. 2012: 22269211 }" "" "" "" "Germline" "yes" "" "0" "" "" "g.58002647T>G" "" "pathogenic" "" "0000088210" "11" "99" "16" "58051236" "58051236" "subst" "0" "01518" "USB1_000001" "g.58051236A>C" "" "{PMID20004881:Volpi 2010}, {PMID:Concolino 2010:20734427}, {OMIM613276:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017332A>C" "" "pathogenic" "" "0000088211" "11" "99" "16" "58051236" "58051236" "subst" "0" "01518" "USB1_000001" "g.58051236A>C" "" "{PMID20004881:Volpi 2010}, {PMID:Concolino 2010:20734427}, {OMIM613276:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017332A>C" "" "pathogenic" "" "0000088212" "11" "99" "16" "58051236" "58051236" "subst" "0" "01518" "USB1_000001" "g.58051236A>C" "" "{PMID20004881:Volpi 2010}, {PMID:Concolino 2010:20734427}, {OMIM613276:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017332A>C" "" "pathogenic" "" "0000088213" "11" "99" "16" "58051265" "58051265" "del" "0" "01518" "USB1_000007" "g.58051265del" "" "Colombo ASHG 2010 meeting, {PMID:Walne 2010:20817924}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017361del" "" "pathogenic" "" "0000088214" "11" "99" "16" "58051265" "58051265" "del" "0" "01518" "USB1_000007" "g.58051265del" "" "Colombo ASHG 2010 meeting {PMID:Colombo 2012:22269211}, {PMID:Walne 2010:20817924}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017361del" "" "pathogenic" "" "0000088215" "11" "99" "16" "58052949" "58052960" "del" "0" "00006" "USB1_000002" "g.58052949_58052960del" "" "{PMID:Volpi 2010:20004881}" "" "NM_024598.2:c.666_676+1 del12 (D204_Q231del)" "" "Germline" "yes" "" "0" "" "" "g.58019045_58019056del" "" "pathogenic" "" "0000088216" "20" "99" "16" "58036463" "58036463" "del" "0" "01518" "USB1_000004" "g.58036463del" "" "Colombo 2010 ASHG, {PMID:Tanaka 2010:20503306}; {PMID:Walne 2010:20817924}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58002559del" "" "pathogenic" "" "0000088217" "21" "99" "16" "58036516" "58036516" "subst" "4.06597E-6" "01518" "USB1_000008" "g.58036516C>T" "" "Colombo ASHG 2010 meeting" "" "" "" "Germline" "yes" "" "0" "" "" "g.58002612C>T" "" "pathogenic" "" "0000088218" "20" "99" "16" "58036551" "58036551" "subst" "0" "01518" "USB1_000005" "g.58036551T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.58002647T>G" "" "pathogenic" "" "0000088219" "21" "99" "16" "58048229" "58048229" "subst" "0" "00006" "USB1_000003" "g.58048229A>G" "" "{PMID:Volpi 2010:20004881}, {OMIM613276:0003}" "" "" "reference sequence article is NM_024598.2; variant causes exon 4 skipping" "Germline" "yes" "" "0" "" "" "g.58014325A>G" "" "pathogenic" "" "0000088220" "21" "99" "16" "58051236" "58051236" "subst" "0" "01518" "USB1_000001" "g.58051236A>C" "" "{PMID20004881:Volpi 2010}, {PMID:Concolino 2010:20734427}, {OMIM613276:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017332A>C" "" "pathogenic" "" "0000088221" "21" "99" "16" "58051236" "58051236" "subst" "0" "01518" "USB1_000001" "g.58051236A>C" "" "{PMID20004881:Volpi 2010}, {PMID:Concolino 2010:20734427}, {OMIM613276:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017332A>C" "" "pathogenic" "" "0000088222" "21" "99" "16" "58051236" "58051236" "subst" "0" "01518" "USB1_000001" "g.58051236A>C" "" "{PMID20004881:Volpi 2010}, {PMID:Concolino 2010:20734427}, {OMIM613276:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017332A>C" "" "pathogenic" "" "0000088223" "21" "99" "16" "58051265" "58051265" "del" "0" "01518" "USB1_000007" "g.58051265del" "" "Colombo ASHG 2010 meeting, {PMID:Walne 2010:20817924}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017361del" "" "pathogenic" "" "0000088224" "21" "99" "16" "58051265" "58051265" "del" "0" "01518" "USB1_000007" "g.58051265del" "" "{PMID:Colombo et al. 2012:22269211}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017361del" "" "pathogenic" "" "0000090039" "3" "77" "16" "58036460" "58036461" "del" "0" "00571" "USB1_000009" "g.58036460_58036461del" "" "{PMID:Walne et al. 2010:20817924}" "" "" "" "Germline" "" "rs759761915" "0" "" "" "g.58002556_58002557del" "" "likely pathogenic" "" "0000090040" "3" "77" "16" "58036527" "58036527" "subst" "1.2205E-5" "00571" "USB1_000010" "g.58036527G>A" "" "{PMID:Arnold et al. 2010:20618321}" "" "" "{CV:156347}" "Germline" "yes" "rs137853973" "0" "" "" "g.58002623G>A" "" "likely pathogenic" "" "0000090041" "3" "77" "16" "58036463" "58036463" "del" "0" "00571" "USB1_000004" "g.58036463del" "" "{PMID:Tanaka et al. 2010:20503306 }, {PMID:Walne et al. 2010:20817924}" "" "" "" "Germline" "yes" "rs786205051" "0" "" "" "g.58002559del" "" "likely pathogenic" "" "0000090042" "3" "77" "16" "58036463" "58036463" "del" "0" "00571" "USB1_000004" "g.58036463del" "" "{PMID:Tanaka et al. 2010:20503306},{PMID:Walne et al. 2010:20817924}" "" "" "" "Germline" "yes" "rs786205051" "0" "" "" "g.58002559del" "" "likely pathogenic" "" "0000090043" "3" "77" "16" "58036463" "58036463" "del" "0" "00571" "USB1_000004" "g.58036463del" "" "{PMID:Tanaka et al. 2010:20503306},{PMID:Walne et al. 2010:20817924}" "" "" "" "Germline" "yes" "rs786205051" "0" "" "" "g.58002559del" "" "likely pathogenic" "" "0000147097" "3" "77" "16" "58036542" "58036542" "subst" "0" "00571" "USB1_000011" "g.58036542T>A" "" "PMID: Walne et al. 2010: 20817924" "" "" "" "Germline" "yes" "" "0" "" "" "g.58002638T>A" "" "likely pathogenic" "" "0000147100" "3" "77" "16" "58043832" "58043832" "subst" "0" "00571" "USB1_000012" "g.58043832G>A" "" "{PMID: Clericuzio et al. 2011: 21271650}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58009928G>A" "" "likely pathogenic" "" "0000147115" "11" "77" "16" "58043834" "58043834" "subst" "0" "00571" "USB1_000013" "g.58043834T>A" "" "{PMID: Piard et al. 2012: 21872685 }" "" "" "" "Germline" "yes" "" "0" "" "" "g.58009930T>A" "" "likely pathogenic" "" "0000147118" "21" "77" "16" "58036527" "58036527" "subst" "1.2205E-5" "00571" "USB1_000010" "g.58036527G>A" "" "{PMID: Piard et al. 2012: 21872685 }" "" "" "" "Germline" "yes" "" "0" "" "" "g.58002623G>A" "" "likely pathogenic" "" "0000147124" "0" "77" "16" "58043982" "58043982" "subst" "0" "00571" "USB1_000014" "g.58043982C>T" "" "{PMID: Clericuzio et al. 2011: 21271650}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58010078C>T" "" "likely pathogenic" "" "0000147125" "0" "77" "16" "58052939" "58052939" "subst" "8.15867E-6" "00571" "USB1_000015" "g.58052939C>T" "" "{PMID: Clericuzio et al. 2011: 21271650}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58019035C>T" "" "likely pathogenic" "" "0000148339" "3" "77" "16" "58048175" "58048175" "subst" "0" "00571" "USB1_000016" "g.58048175A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.58014271A>G" "" "likely pathogenic" "" "0000148340" "0" "77" "16" "58048216" "58048219" "del" "0" "00571" "USB1_000017" "g.58048216_58048219del" "" "{PMID: Clericuzio et al. 2011: 21271650}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58014312_58014315del" "" "likely pathogenic" "" "0000148341" "0" "77" "16" "58052960" "58052960" "subst" "4.08654E-6" "00571" "USB1_000018" "g.58052960G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.58019056G>T" "" "likely pathogenic" "" "0000148342" "3" "77" "16" "58048226" "58048226" "del" "0" "00571" "USB1_000019" "g.58048226del" "" "{PMID: Clericuzio et al. 2011: 21271650}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58014322del" "" "likely pathogenic" "" "0000148343" "3" "77" "16" "58051236" "58051236" "subst" "0" "00571" "USB1_000001" "g.58051236A>C" "" "{PMID:Farruggia et al. 2014:23823120}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017332A>C" "" "likely pathogenic" "" "0000148345" "3" "77" "16" "58051275" "58051275" "subst" "0" "00571" "USB1_000020" "g.58051275C>T" "" "{PMID:Walne et al. 2010:20817924}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017371C>T" "" "likely pathogenic" "" "0000148346" "3" "77" "16" "58051275" "58051275" "subst" "0" "00571" "USB1_000020" "g.58051275C>T" "" "{PMID:Clericuzio et al. 2011:21271650}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017371C>T" "" "likely pathogenic" "" "0000148347" "3" "77" "16" "58052889" "58052889" "subst" "8.16073E-6" "00571" "USB1_000021" "g.58052889A>G" "" "{PMID:Walne et al. 2016:27612988}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58018985A>G" "" "likely pathogenic" "" "0000148348" "3" "77" "16" "58052889" "58052889" "subst" "8.16073E-6" "00571" "USB1_000021" "g.58052889A>G" "" "{PMID:Walne et al. 2016:27612988}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58018985A>G" "" "likely pathogenic" "" "0000355083" "3" "77" "16" "58043901" "58043901" "dup" "0" "00571" "USB1_000022" "g.58043901dup" "" "{PMID:Suter 2016:27247962}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.58009997dup" "" "likely pathogenic" "" "0000355085" "3" "77" "16" "58051344" "58051344" "subst" "0" "00571" "USB1_000023" "g.58051344G>A" "" "{PMID:Aglaguel 2017:28353165}" "" "" "" "Germline" "yes" "" "0" "" "" "g.58017440G>A" "" "likely pathogenic" "" "0000355086" "3" "77" "16" "58051252" "58051252" "subst" "0" "00571" "USB1_000024" "g.58051252T>G" "" "{PMID:Aglaguel 2017:28353165}" "" "" "" "Germline" "" "" "0" "" "" "g.58017348T>G" "" "likely pathogenic" "" "0000558669" "0" "50" "16" "58031932" "58031932" "subst" "5.33513E-5" "01943" "ZNF319_000001" "g.58031932C>T" "" "" "" "ZNF319(NM_020807.2):c.238G>A (p.V80M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57998028C>T" "" "VUS" "" "0000558670" "0" "30" "16" "58036446" "58036446" "subst" "0.000260061" "01943" "ZNF319_000002" "g.58036446G>A" "" "" "" "USB1(NM_001204911.1):c.162G>A (p.P54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58002542G>A" "" "likely benign" "" "0000558671" "0" "90" "16" "58036516" "58036516" "subst" "4.06597E-6" "02325" "USB1_000008" "g.58036516C>T" "" "" "" "USB1(NM_001204911.2):c.232C>T (p.R78*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58002612C>T" "" "pathogenic" "" "0000558672" "0" "90" "16" "58036527" "58036527" "subst" "1.2205E-5" "02327" "USB1_000010" "g.58036527G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58002623G>A" "" "pathogenic" "" "0000558674" "0" "30" "16" "58044972" "58044972" "subst" "8.09808E-6" "01804" "ZNF319_000004" "g.58044972C>T" "" "" "" "USB1(NM_001204911.1):c.500C>T (p.(Thr167Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58011068C>T" "" "likely benign" "" "0000558675" "0" "50" "16" "58052907" "58052907" "subst" "0.000521653" "01943" "ZNF319_000005" "g.58052907G>A" "" "" "" "USB1(NM_024598.3):c.641G>A (p.C214Y), USB1(NM_024598.4):c.641G>A (p.C214Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58019003G>A" "" "VUS" "" "0000558676" "0" "30" "16" "58054135" "58054135" "subst" "0.000186813" "01943" "ZNF319_000006" "g.58054135A>G" "" "" "" "USB1(NM_024598.3):c.784A>G (p.M262V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58020231A>G" "" "likely benign" "" "0000616063" "0" "50" "16" "58051246" "58051246" "subst" "0.000763396" "01943" "ZNF319_000007" "g.58051246T>C" "" "" "" "USB1(NM_024598.3):c.512T>C (p.I171T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58017342T>C" "" "VUS" "" "0000657895" "0" "50" "16" "58054055" "58054055" "subst" "8.13266E-6" "01943" "ZNF319_000008" "g.58054055A>T" "" "" "" "USB1(NM_024598.3):c.704A>T (p.D235V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.58020151A>T" "" "VUS" "" "0000692102" "0" "30" "16" "58043894" "58043894" "subst" "0.000255819" "02326" "ZNF319_000009" "g.58043894T>C" "" "" "" "USB1(NM_001204911.2):c.327T>C (p.Y109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725884" "0" "50" "16" "58052907" "58052907" "subst" "0.000521653" "02325" "ZNF319_000005" "g.58052907G>A" "" "" "" "USB1(NM_024598.3):c.641G>A (p.C214Y), USB1(NM_024598.4):c.641G>A (p.C214Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807495" "0" "50" "16" "58032048" "58032048" "subst" "2.19655E-5" "01943" "ZNF319_000010" "g.58032048G>A" "" "" "" "ZNF319(NM_020807.2):c.122C>T (p.A41V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854575" "0" "30" "16" "58035491" "58035491" "subst" "0" "01943" "ZNF319_000011" "g.58035491G>T" "" "" "" "USB1(NM_001204911.1):c.98+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930628" "0" "30" "16" "58043911" "58043911" "subst" "0.00118977" "02326" "ZNF319_000012" "g.58043911G>A" "" "" "" "USB1(NM_024598.3):c.344G>A (p.R115K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981966" "0" "50" "16" "58036390" "58036390" "subst" "0.000150591" "01804" "ZNF319_000013" "g.58036390A>G" "" "" "" "USB1(NM_024598.4):c.106A>G (p.(Ser36Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981967" "0" "50" "16" "58036517" "58036517" "subst" "4.06666E-6" "01804" "ZNF319_000014" "g.58036517G>A" "" "" "" "USB1(NM_024598.4):c.233G>A (p.(Arg78Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes USB1 ## Count = 57 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000088207" "00023902" "99" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Pro60Leufs*55)" "2" "0000088208" "00023902" "99" "232" "0" "232" "0" "c.232C>T" "r.232c>u" "p.Arg78*" "2" "0000088209" "00023902" "99" "265" "2" "265" "2" "c.265+2T>G" "r.spl" "p.(Tyr89Trpfs*3)" "2i" "0000088210" "00023902" "99" "504" "-2" "504" "-2" "c.504-2A>C" "r.504_609del" "p.Thr169Ilefs*61" "4i" "0000088211" "00023902" "99" "504" "-2" "504" "-2" "c.504-2A>C" "r.(?)" "p.(Thr169Ilefs*61)" "4i" "0000088212" "00023902" "99" "504" "-2" "504" "-2" "c.504-2A>C" "r.(?)" "p.(Thr169Ilefs*61)" "4i" "0000088213" "00023902" "99" "531" "0" "531" "0" "c.531del" "r.531delA" "p.His179Metfs*86" "5" "0000088214" "00023902" "99" "531" "0" "531" "0" "c.531del" "r.531delA" "p.His179Metfs*86" "5" "0000088215" "00023902" "99" "683" "0" "693" "1" "c.683_693+1del" "r.610_693del" "p.Asp204_Gln231del" "6_6i" "0000088216" "00023902" "99" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Pro60Leufs*55)" "2" "0000088217" "00023902" "99" "232" "0" "232" "0" "c.232C>T" "r.232c>u" "p.Arg78*" "2" "0000088218" "00023902" "99" "265" "2" "265" "2" "c.265+2T>G" "r.spl" "p.(Tyr89Trpfs*3)" "2i" "0000088219" "00023902" "99" "502" "0" "502" "0" "c.502A>G" "r.450_503del" "p.Phe151_Arg168del" "4" "0000088220" "00023902" "99" "504" "-2" "504" "-2" "c.504-2A>C" "r.504_609del" "p.Thr169Ilefs*61" "4i" "0000088221" "00023902" "99" "504" "-2" "504" "-2" "c.504-2A>C" "r.(?)" "p.(Thr169Ilefs*61)" "4i" "0000088222" "00023902" "99" "504" "-2" "504" "-2" "c.504-2A>C" "r.(?)" "p.(Thr169Ilefs*61)" "4i" "0000088223" "00023902" "99" "531" "0" "531" "0" "c.531del" "r.531delA" "p.His179Metfs*86" "5" "0000088224" "00023902" "99" "531" "0" "531" "0" "c.531del" "r.531delA" "p.His179Metfs*86" "5" "0000090039" "00023902" "77" "176" "0" "177" "0" "c.176_177del" "r.(?)" "p.(Gly59Alafs*2)" "2" "0000090040" "00023902" "77" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Trp81*)" "2" "0000090041" "00023902" "77" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Pro60Leufs*55)" "2" "0000090042" "00023902" "77" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Pro60Leufs*55)" "2" "0000090043" "00023902" "77" "179" "0" "179" "0" "c.179del" "r.(?)" "p.(Pro60Leufs*55)" "2" "0000147097" "00023902" "77" "258" "0" "258" "0" "c.258T>A" "r.(?)" "p.(Tyr86*)" "2" "0000147100" "00023902" "77" "266" "-1" "266" "-1" "c.266-1G>A" "r.spl" "p.(Glu90Serfs*8)" "2i" "0000147115" "00023902" "77" "267" "0" "267" "0" "c.267T>A" "r.(?)" "p.(Tyr89*)" "3" "0000147118" "00023902" "77" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Trp81*)" "2" "0000147124" "00023902" "77" "415" "0" "415" "0" "c.415C>T" "r.(?)" "p.(Gln139*)" "3" "0000147125" "00023902" "77" "673" "0" "673" "0" "c.673C>T" "r.(?)" "p.(Gln225*)" "6" "0000148339" "00023902" "77" "450" "-2" "450" "-2" "c.450-2A>G" "r.spl?" "p.?" "3i" "0000148340" "00023902" "77" "489" "0" "492" "0" "c.489_492del" "r.(?)" "p.(Asn163Lysfs*101)" "4" "0000148341" "00023902" "77" "693" "1" "693" "1" "c.693+1G>T" "r.610_693del" "p.(Asp204_Gln231del)" "6i" "0000148342" "00023902" "77" "499" "0" "499" "0" "c.499del" "r.(?)" "p.(Thr167Profs*98)" "4" "0000148343" "00023902" "77" "504" "-2" "504" "-2" "c.504-2A>C" "r.spl?" "p.?" "4i" "0000148345" "00023902" "77" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Gln181*)" "5" "0000148346" "00023902" "77" "541" "0" "541" "0" "c.541C>T" "r.(?)" "p.(Gln181*)" "5" "0000148347" "00023902" "77" "623" "0" "623" "0" "c.623A>G" "r.(?)" "p.(His208Arg)" "6" "0000148348" "00023902" "77" "623" "0" "623" "0" "c.623A>G" "r.(?)" "p.(His208Arg)" "6" "0000355083" "00023902" "00" "334" "0" "334" "0" "c.334dup" "r.(?)" "p.(Arg112Profs*63)" "3" "0000355085" "00023902" "77" "609" "1" "609" "1" "c.609+1G>A" "r.spl?" "p.?" "5i" "0000355086" "00023902" "77" "518" "0" "518" "0" "c.518T>G" "r.(?)" "p.(Leu173Arg)" "5" "0000558669" "00023902" "50" "-3456" "0" "-3456" "0" "c.-3456C>T" "r.(?)" "p.(=)" "" "0000558670" "00023902" "30" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Pro54=)" "" "0000558671" "00023902" "90" "232" "0" "232" "0" "c.232C>T" "r.(?)" "p.(Arg78Ter)" "" "0000558672" "00023902" "90" "243" "0" "243" "0" "c.243G>A" "r.(?)" "p.(Trp81Ter)" "" "0000558674" "00023902" "30" "449" "956" "449" "956" "c.449+956C>T" "r.(=)" "p.(=)" "" "0000558675" "00023902" "50" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Cys214Tyr)" "" "0000558676" "00023902" "30" "784" "0" "784" "0" "c.784A>G" "r.(?)" "p.(Met262Val)" "" "0000616063" "00023902" "50" "512" "0" "512" "0" "c.512T>C" "r.(?)" "p.(Ile171Thr)" "" "0000657895" "00023902" "50" "704" "0" "704" "0" "c.704A>T" "r.(?)" "p.(Asp235Val)" "" "0000692102" "00023902" "30" "327" "0" "327" "0" "c.327T>C" "r.(?)" "p.(Tyr109=)" "" "0000725884" "00023902" "50" "641" "0" "641" "0" "c.641G>A" "r.(?)" "p.(Cys214Tyr)" "" "0000807495" "00023902" "50" "-3340" "0" "-3340" "0" "c.-3340G>A" "r.(?)" "p.(=)" "" "0000854575" "00023902" "30" "98" "6" "98" "6" "c.98+6G>T" "r.(=)" "p.(=)" "" "0000930628" "00023902" "30" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115Lys)" "" "0000981966" "00023902" "50" "106" "0" "106" "0" "c.106A>G" "r.(?)" "p.(Ser36Gly)" "" "0000981967" "00023902" "50" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Arg78Gln)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000057881" "0000088207" "0000057881" "0000088216" "0000057882" "0000088208" "0000057882" "0000088217" "0000057883" "0000088209" "0000057883" "0000088218" "0000057884" "0000088210" "0000057884" "0000088220" "0000057885" "0000088211" "0000057885" "0000088221" "0000057886" "0000088212" "0000057886" "0000088222" "0000057887" "0000088213" "0000057887" "0000088223" "0000057888" "0000088214" "0000057888" "0000088224" "0000057889" "0000088215" "0000057889" "0000088219" "0000059203" "0000090039" "0000059204" "0000090040" "0000059205" "0000090041" "0000059206" "0000090042" "0000059207" "0000090043" "0000089184" "0000147097" "0000089186" "0000147100" "0000089199" "0000147115" "0000089202" "0000147118" "0000089205" "0000355083" "0000089209" "0000147124" "0000089209" "0000147125" "0000090253" "0000148339" "0000090254" "0000148340" "0000090254" "0000148341" "0000090255" "0000148342" "0000090256" "0000148343" "0000090258" "0000148345" "0000090259" "0000148346" "0000090260" "0000148347" "0000090261" "0000148348" "0000155362" "0000355085" "0000155363" "0000355086"