### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NPC2) # 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}}" "NPC2" "Niemann-Pick disease, type C2" "14" "q24.3" "unknown" "NG_007117.1" "UD_132118995938" "" "http://www.LOVD.nl/NPC2" "" "1" "14537" "10577" "601015" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/NPC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2010-04-29 00:00:00" "00006" "2016-06-11 21:37:15" "00000" "2025-11-01 13:22:20" ## 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}}" "00000131" "NPC2" "Niemann-Pick disease, type C2" "001" "NM_006432.3" "" "NP_006423.1" "" "" "" "-107" "790" "456" "74960084" "74946643" "00002" "2012-05-11 13:12:11" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02680" "NPC2" "Niemann-Pick disease, type C2" "AR" "607625" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-03-23 09:24:50" "05812" "NP" "Niemann-Pick disease (NP)" "" "" "" "" "" "00006" "2020-08-13 16:01:35" "00006" "2020-12-24 09:23:19" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "NPC2" "02680" ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00000060" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000082" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00080909" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00225666" "" "" "" "1" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam10DG0672" "00291111" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00434312" "" "" "" "1" "" "00006" "{PMID:Hebbar 2016:27271431}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "no" "India" "" "0" "" "" "Asia" "patient" "00434316" "" "" "" "1" "" "00006" "{PMID:Fancello 2009:19252935}" "" "" "" "Italy" "4m" "0" "" "" "" "NP20" "00434328" "" "" "" "2" "" "00006" "{PMID:Fancello 2009:19252935}" "" "" "" "Italy" "" "0" "" "" "" "NP34" "00434329" "" "" "00434328" "1" "" "00006" "{PMID:Fancello 2009:19252935}" "" "" "" "Italy" "10m" "0" "" "" "" "NP34sib" "00434357" "" "" "" "1" "" "00006" "{PMID:Naureckiene 2000:11125141}, {PMID:Milat 2001:11567215}" "" "F" "no" "Italy" "00y06m" "0" "" "" "" "Pat3 (88057/NIH99.04)" "00434358" "" "" "" "1" "" "00006" "{PMID:Naureckiene 2000:11125141}" "" "" "" "United States" "" "0" "" "" "" "NPC293.10" "00434359" "" "" "" "1" "" "00006" "{PMID:Milat 2001:11567215}" "" "F" "no" "France" "6m" "0" "" "" "" "Pat1 (20082)" "00434360" "" "" "" "1" "" "00006" "{PMID:Milat 2001:11567215}" "" "F" "no" "France" "6m" "0" "" "" "" "Pat2 (88082)" "00434361" "" "" "" "1" "" "00006" "{PMID:Milat 2001:11567215}" "" "F" "yes" "Germany" "7m" "0" "" "" "" "Pat4 (93104)" "00434362" "" "" "" "1" "" "00006" "{PMID:Milat 2001:11567215}" "" "M" "yes" "Algeria" "19m" "0" "" "" "" "Pat5 (89095)" "00434363" "" "" "" "1" "" "00006" "{PMID:Milat 2001:11567215}" "" "F" "no" "Czech Republic" "4y" "0" "" "" "" "Pat6 (96059)" "00434364" "" "" "" "1" "" "00006" "{PMID:Milat 2001:11567215}" "" "F" "yes" "Turkey" ">20m" "0" "" "" "" "Pat7 (21033)" "00434365" "" "" "" "1" "" "00006" "{PMID:Milat 2001:11567215}" "" "F" "yes" "Algeria" ">21y" "0" "" "" "" "Pat8 (82017/NIH94.85b)" "00434366" "" "" "" "2" "" "00006" "{PMID:Klunemann 2002:12447927}" "3-generation family, 2 affected sisters, unaffected heterozygous parents/relatives" "F" "" "Canada" "" "0" "" "" "French-Canadian;Germany;Ireland" "FamPat2.2/3" "00434367" "" "" "" "2" "" "00006" "{PMID:Verot 2007:17470133}" "family, 2 affected sisters" "F" "" "Italy" "03y06m" "0" "" "" "" "89021" "00434368" "" "" "" "2" "" "00006" "{PMID:Verot 2007:17470133}" "family, 2 affected brothers" "M" "" "Italy" "00y15m" "0" "" "" "" "22073" "00434369" "" "" "" "1" "" "00006" "{PMID:Verot 2007:17470133}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Pakistan" "8m" "0" "" "" "" "24060" "00434370" "" "" "" "1" "" "00006" "{PMID:Verot 2007:17470133}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "yes" "Sri Lanka" "1y" "0" "" "" "" "25131" "00434371" "" "" "" "1" "" "00006" "{PMID:Verot 2007:17470133}" "2-generation family, 1 affected, unaffected heterozygous parents" "" "yes" "Turkey" "" "0" "" "" "" "24084" "00434372" "" "" "" "1" "" "00006" "{PMID:Verot 2007:17470133}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "yes" "Algeria" "" "0" "" "" "" "25046" "00434407" "" "" "" "1" "" "00006" "{PMID:Millat 2005:16126423}" "" "" "" "Turkey" "" "0" "" "" "" "24084" "00434408" "" "" "" "1" "" "00006" "{PMID:Millat 2005:16126423}" "" "" "" "Algeria" "" "0" "" "" "" "25046" "00434420" "" "" "" "1" "" "00006" "{PMID:Varnier 2004:15465422}" "" "" "" "" "" "0" "" "" "" "91088" "00434421" "" "" "" "1" "" "00006" "{PMID:Varnier 2004:15465422}" "" "" "" "" "" "0" "" "" "" "23140" "00434422" "" "" "" "1" "" "00006" "{PMID:Varnier 2004:15465422}" "" "" "" "" "" "0" "" "" "" "99058" "00434433" "" "" "" "1" "" "00006" "{PMID:Park 2003:12955717}" "" "" "" "" "" "0" "" "" "" "" "00434434" "" "" "" "1" "" "00006" "{PMID:Park 2003:12955717}" "" "" "" "" "" "0" "" "" "" "" "00434435" "" "" "" "1" "" "00006" "{PMID:Park 2003:12955717}" "" "" "" "" "" "0" "" "" "" "" "00434436" "" "" "" "1" "" "00006" "{PMID:Park 2003:12955717}" "" "" "" "" "" "0" "" "" "" "" "00434437" "" "" "" "1" "" "00006" "{PMID:Park 2003:12955717}" "" "" "" "" "" "0" "" "" "" "" "00434438" "" "" "" "1" "" "00006" "{PMID:Park 2003:12955717}" "" "" "" "" "" "0" "" "" "" "" "00434928" "" "" "" "1" "" "00006" "{PMID:Chikh 2005:15937921}" "" "" "yes" "Italy" "" "0" "" "" "" "Pat5" "00434929" "" "" "" "1" "" "00006" "{PMID:Chikh 2005:15937921}" "2-generation family, 1 affected, unaffected heterozygous parents" "" "" "Sri Lanka" "" "0" "" "" "" "Pat6" "00434930" "" "" "" "3" "" "00006" "{PMID:Chikh 2005:15937921}" "2-generation family, 3 affected, unaffected heterozygous parents" "" "yes" "Morocco" "" "0" "" "" "" "Pat7" "00456234" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat12" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00080909" "02680" "00225666" "00198" "00291111" "00198" "00434312" "05812" "00434316" "05812" "00434328" "05812" "00434329" "05812" "00434357" "05812" "00434358" "05812" "00434359" "05812" "00434360" "05812" "00434361" "05812" "00434362" "05812" "00434363" "05812" "00434364" "05812" "00434365" "05812" "00434366" "05812" "00434367" "05812" "00434368" "05812" "00434369" "05812" "00434370" "05812" "00434371" "05812" "00434372" "05812" "00434407" "05812" "00434408" "05812" "00434420" "05812" "00434421" "05812" "00434422" "05812" "00434433" "05812" "00434434" "05812" "00434435" "05812" "00434436" "05812" "00434437" "05812" "00434438" "05812" "00434928" "05812" "00434929" "05812" "00434930" "05812" "00456234" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 02680, 05812 ## Count = 37 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060478" "02680" "00080909" "01758" "Familial, autosomal recessive" "" "Niemann-pick disease, type C2 (OMIM:607625)" "" "" "" "" "" "" "" "" "" "" "" "0000170772" "00198" "00225666" "00006" "Familial, autosomal recessive" "" "see paper; …, microcephaly, static encephalopathy, no organomegaly, and normal retina" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000324669" "05812" "00434312" "00006" "Familial, autosomal recessive" "00y05m" "see paper; ..., normal birth weight; 3m-failure to thrive, cough, loose stools; 5m-delay in motor development, could not hold neck or roll over" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick disease" "" "0000324673" "05812" "00434316" "00006" "Familial, autosomal recessive" "4m" "classical phenotype; respiratory distress with interstitial lung infiltration" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease, early infantile systemic, lethal form" "" "0000324685" "05812" "00434328" "00006" "Familial, autosomal recessive" "3y" "hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); hypotonia (HP:0001252); respiratory distress with interstitial lung infiltration" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease, severe infantile" "" "0000324686" "05812" "00434329" "00006" "Familial, autosomal recessive" "10m" "hepatomegaly (HP:0002240); splenomegaly (HP:0001744); cognitive impairment (HP:0100543)/psychomotor delay (HP:0001263); dysarthria (HP:0001260); hypotonia (HP:0001252); respiratory distress with interstitial lung infiltration" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease, severe infantile" "" "0000324714" "05812" "00434357" "00006" "Familial, autosomal recessive" "00y06m" "6m-died; neonatal cholestatic icterus, hepatosplenomegaly, respiratory failure (3 affected siblings diagnosed prenatally, pregnancies terminated)" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324715" "05812" "00434358" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324716" "05812" "00434359" "00006" "Familial, autosomal recessive" "6m" "hydramnios, 32w-birth cesarean sectio, respiratory distress from birth; 4d-30d-moderate neonatal cholestatic icterus; hepatosplenomegaly, respiratory failure (2 affected siblings diagnosed prenatally, pregnancies were terminated)" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324717" "05812" "00434360" "00006" "Familial, autosomal recessive" "6m" "fetal 23w-ascites (that recessed); birth hepatosplenomegaly; 1m-cholestatic icterus; 3m-severe respiratory insufficiency, respiratory failure" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324718" "05812" "00434361" "00006" "Familial, autosomal recessive" "7m" "neonatal period uneventful; 3m-severe interstitial pneumonia, hepatosplenomegaly, respiratory insufficiency, failure (brother with “neonatal hepatitis”, severe lung involvement, 6w-died)" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324719" "05812" "00434362" "00006" "Familial, autosomal recessive" "19m" "4m-neonatal cholestatic icterus; pulmonary involvement; 7m-9m-severe motor development delay (15m-sit, no further progress); growth retardation, increasing pulmonary fibrosis, oxygen dependency, respiratory failure" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324720" "05812" "00434363" "00006" "Familial, autosomal recessive" "4y" "failure to thrive (with poor feeding); 1y-hepatospleno-megaly, mild delay motor milestones, severe lung involvement; 20m-oxygen dependent, quadruspasticity" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324721" "05812" "00434364" "00006" "Familial, autosomal recessive" "20m" "no neonatal cholestatic icterus; 11m-respiratory distress, pulmonary infiltration, (hepato-)splenomegaly; 13m-acute respiratory problems, normal psychomotor development; 18m-hypotonia, gait problems (elder brother splenomegaly, 6m- died in Turkey)" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324722" "05812" "00434365" "00006" "Familial, autosomal recessive" "2iy" "6y5m-splenomegaly;, school problems; 11y-epileptic fits; mental retardation, slow progression, 21y-still able to walk (affected sister similar course, 27y-still alive)" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324723" "05812" "00434366" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324724" "05812" "00434367" "00006" "Familial, autosomal recessive" "3y" "3y6m-deceased; hepatosplenomegaly, delay in psychomotor milestones, hypotonia with hyperreflexia, ataxia" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324725" "05812" "00434368" "00006" "Familial, autosomal recessive" "15m" "15m-deceased respiratory failure; soon after birth visceromegaly, cholestasis, failure to thrive, progressive lung interstitial involvement" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324726" "05812" "00434369" "00006" "Familial, autosomal recessive" "8m" "neonatal hepatosplenomegaly, developed respiratory distress shortly after birth, failure to thrive; 8m-died of progressive respiratory failure" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324727" "05812" "00434370" "00006" "Familial, autosomal recessive" "1y" "4m15d-moderate hepatosplenomegaly, severe pulmonary involvement with hypoxia, severe nutritional problems; 10m15d-bone marrow transplantation, excellent engraftment; 1y-died adenovirus infection" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324728" "05812" "00434371" "00006" "Familial, autosomal recessive" "17y6m" "12y-neurological symptoms (tremor, speech problems); 17y6m-severe dystonia, mental retardation, no hepatosplenomegaly" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324729" "05812" "00434372" "00006" "Familial, autosomal recessive" "9m" "neonatal cholestatic icterus, severe hepatosplenomegaly with ascites, recovery; paternal aunt died at 2m-neonatal cholestatic liver disease" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324763" "05812" "00434407" "00006" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease, juvenile" "" "0000324764" "05812" "00434408" "00006" "Familial, autosomal recessive" "6m" "" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324765" "05812" "00434420" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease, infantile" "" "0000324766" "05812" "00434421" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease, infantile" "" "0000324767" "05812" "00434422" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease, infantile" "" "0000324770" "05812" "00434433" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324771" "05812" "00434434" "00006" "Familial, autosomal recessive" "" "classical phenotype" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324772" "05812" "00434435" "00006" "Familial, autosomal recessive" "" "variant phenotype" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324773" "05812" "00434436" "00006" "Familial, autosomal recessive" "" "adult onset" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324774" "05812" "00434437" "00006" "Familial, autosomal recessive" "" "severe" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000324775" "05812" "00434438" "00006" "Familial, autosomal recessive" "" "classical phenotype" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000325175" "05812" "00434928" "00006" "Familial, autosomal recessive" "" "classic NPC, fetal hepatomegaly, ascitis, neonatal jaundice, hepatosplenomegaly; 16m-walk; 2y6m-motor and intellectual regression" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000325176" "05812" "00434929" "00006" "Familial, autosomal recessive" "01y" "calssic NP, cholestatic; 48d-icterus, hepatomegaly; hypotonia, retarded motor development; 5m-developed chronic respiratory failure; elder brother died 9m-chronic respiratory failure with hepatosplenomegaly" "" "" "" "" "" "" "" "" "npc2" "Niemann-Pick type C disease" "" "0000325177" "05812" "00434930" "00006" "Familial, autosomal recessive" "03y" "classic; 3y-splenomegaly, bed-ridden, amyotrophy, no clear pyramidal syndrome, severe respiratory problems, close to terminal stage; elder brother died 3y6m-mental rregression; younger brother died 4m-icterus" "" "" "" "" "" "" "" "" "NPC2" "Niemann-Pick type C disease" "" "0000344753" "00198" "00456234" "00006" "Unknown" "" "see paper; ... (detailed)" "13y" "" "" "" "" "" "" "" "NPC2" "lysosomal storage disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000060" "00000060" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000082" "00000082" "1" "00004" "" "2012-05-11 13:19:08" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000081021" "00080909" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000226733" "00225666" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000292279" "00291111" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000435780" "00434312" "1" "00006" "00006" "2023-03-23 11:16:00" "00006" "2023-03-23 11:21:08" "MLPA;SEQ;SEQ-NG" "DNA" "" "WES" "0000435784" "00434316" "1" "00006" "00006" "2023-03-23 15:25:57" "" "" "SEQ" "DNA" "" "" "0000435796" "00434328" "1" "00006" "00006" "2023-03-23 15:25:57" "" "" "SEQ" "DNA" "" "" "0000435797" "00434329" "1" "00006" "00006" "2023-03-23 15:25:57" "" "" "SEQ" "DNA" "" "" "0000435825" "00434357" "1" "00006" "00006" "2023-03-23 15:46:54" "" "" "SEQ" "DNA" "" "" "0000435826" "00434358" "1" "00006" "00006" "2023-03-23 15:49:25" "" "" "SEQ" "DNA" "" "" "0000435827" "00434359" "1" "00006" "00006" "2023-03-23 19:05:01" "" "" "SEQ" "DNA" "" "" "0000435828" "00434360" "1" "00006" "00006" "2023-03-23 19:05:01" "" "" "SEQ" "DNA" "" "" "0000435829" "00434361" "1" "00006" "00006" "2023-03-23 19:05:01" "" "" "SEQ" "DNA" "" "" "0000435830" "00434362" "1" "00006" "00006" "2023-03-23 19:05:01" "" "" "SEQ" "DNA" "" "" "0000435831" "00434363" "1" "00006" "00006" "2023-03-23 19:05:01" "" "" "SEQ" "DNA" "" "" "0000435832" "00434364" "1" "00006" "00006" "2023-03-23 19:05:01" "" "" "SEQ" "DNA" "" "" "0000435833" "00434365" "1" "00006" "00006" "2023-03-23 19:05:01" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000435834" "00434366" "1" "00006" "00006" "2023-03-23 19:13:53" "00006" "2023-03-23 19:23:57" "SEQ" "DNA" "" "" "0000435835" "00434367" "1" "00006" "00006" "2023-03-23 20:54:35" "" "" "SEQ" "DNA" "" "" "0000435836" "00434368" "1" "00006" "00006" "2023-03-23 20:54:35" "" "" "SEQ" "DNA" "" "" "0000435837" "00434369" "1" "00006" "00006" "2023-03-23 20:54:35" "" "" "SEQ" "DNA" "" "" "0000435838" "00434370" "1" "00006" "00006" "2023-03-23 20:54:35" "00006" "2023-03-23 21:16:02" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000435839" "00434371" "1" "00006" "00006" "2023-03-23 20:54:35" "" "" "SEQ" "DNA" "" "" "0000435840" "00434372" "1" "00006" "00006" "2023-03-23 20:54:35" "" "" "SEQ" "DNA" "" "" "0000435875" "00434407" "1" "00006" "00006" "2023-03-24 10:31:23" "" "" "DHPLC;SEQ" "DNA" "" "" "0000435876" "00434408" "1" "00006" "00006" "2023-03-24 10:31:23" "" "" "DHPLC;SEQ" "DNA" "" "" "0000435888" "00434420" "1" "00006" "00006" "2023-03-24 11:27:20" "" "" "SEQ" "DNA" "" "" "0000435889" "00434421" "1" "00006" "00006" "2023-03-24 11:27:20" "" "" "SEQ" "DNA" "" "" "0000435890" "00434422" "1" "00006" "00006" "2023-03-24 11:27:20" "" "" "SEQ" "DNA" "" "" "0000435901" "00434433" "1" "00006" "00006" "2023-03-24 16:34:44" "" "" "SEQ" "DNA" "" "" "0000435902" "00434434" "1" "00006" "00006" "2023-03-24 16:34:44" "" "" "SEQ" "DNA" "" "" "0000435903" "00434435" "1" "00006" "00006" "2023-03-24 16:34:44" "" "" "SEQ" "DNA" "" "" "0000435904" "00434436" "1" "00006" "00006" "2023-03-24 16:34:44" "" "" "SEQ" "DNA" "" "" "0000435905" "00434437" "1" "00006" "00006" "2023-03-24 16:34:44" "" "" "SEQ" "DNA" "" "" "0000435906" "00434438" "1" "00006" "00006" "2023-03-24 16:34:44" "" "" "SEQ" "DNA" "" "" "0000436401" "00434928" "1" "00006" "00006" "2023-04-14 15:00:04" "" "" "SEQ" "DNA" "" "" "0000436402" "00434929" "1" "00006" "00006" "2023-04-14 15:44:59" "" "" "SEQ" "DNA" "" "" "0000436403" "00434930" "1" "00006" "00006" "2023-04-14 15:50:34" "" "" "SEQ" "DNA" "" "" "0000457851" "00456234" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{geneid}}" "0000000060" "ATP7B" "0000000060" "CFTR" "0000000060" "ENPP1" "0000000060" "GBA" "0000000060" "GLB1" "0000000060" "NHLRC1" "0000000060" "NPC2" "0000000060" "NPHS1" "0000000060" "SMPD1" "0000000082" "ATP7B" "0000000082" "CPT1A" "0000000082" "CYP21A2" "0000000082" "ETFB" "0000000082" "FAH" "0000000082" "GLB1" "0000000082" "MCOLN1" "0000000082" "MYO5A" "0000000082" "NHLRC1" "0000000082" "NPC2" "0000081021" "NPC2" "0000226733" "NPC2" "0000435784" "NPC2" "0000435796" "NPC2" "0000435797" "NPC2" "0000435825" "NPC2" "0000435826" "NPC2" "0000435827" "NPC2" "0000435828" "NPC2" "0000435829" "NPC2" "0000435830" "NPC2" "0000435831" "NPC2" "0000435832" "NPC2" "0000435833" "NPC2" "0000435834" "NPC1" "0000435834" "NPC2" "0000435835" "NPC2" "0000435836" "NPC2" "0000435837" "NPC2" "0000435838" "NPC2" "0000435839" "NPC2" "0000435840" "NPC2" "0000435875" "NPC2" "0000435876" "NPC2" "0000435888" "NPC2" "0000435889" "NPC2" "0000435890" "NPC2" "0000436401" "NPC2" "0000436402" "NPC2" "0000436403" "NPC2" ## 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 = 84 "{{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}}" "0000000439" "0" "50" "14" "74953134" "74953134" "subst" "0.00220317" "00002" "NPC2_000001" "g.74953134C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74486431C>T" "" "VUS" "" "0000000440" "0" "50" "14" "74953134" "74953134" "subst" "0.00220317" "00002" "NPC2_000001" "g.74953134C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.74486431C>T" "" "VUS" "" "0000130107" "3" "90" "14" "74951203" "74951203" "subst" "1.62426E-5" "01758" "NPC2_000002" "g.74951203C>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.74484500C>A" "" "pathogenic" "ACMG" "0000249567" "0" "30" "14" "74946968" "74946968" "subst" "0.000647101" "02325" "NPC2_000003" "g.74946968A>G" "" "" "" "NPC2(NM_006432.5):c.*9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74480265A>G" "" "likely benign" "" "0000252575" "0" "90" "14" "74951282" "74951282" "subst" "0" "02326" "NPC2_000007" "g.74951282A>G" "" "" "" "NPC2(NM_006432.4):c.199T>C (p.S67P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74484579A>G" "" "pathogenic" "" "0000296588" "0" "30" "14" "74953018" "74953018" "subst" "0.00481534" "02325" "NPC2_000008" "g.74953018C>T" "" "" "" "NPC2(NM_006432.5):c.190+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74486315C>T" "" "likely benign" "" "0000296589" "0" "30" "14" "74951111" "74951111" "subst" "0.00123044" "02325" "NPC2_000006" "g.74951111C>T" "" "" "" "NPC2(NM_006432.4):c.363+7G>A, NPC2(NM_006432.5):c.363+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74484408C>T" "" "likely benign" "" "0000298747" "0" "30" "14" "74947404" "74947404" "subst" "0.00374431" "02329" "NPC2_000005" "g.74947404C>T" "" "" "" "NPC2(NM_006432.4):c.441+1G>A, NPC2(NM_006432.5):c.441+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74480701C>T" "" "likely benign" "" "0000298748" "0" "30" "14" "74946995" "74946995" "subst" "0.00622786" "02329" "NPC2_000004" "g.74946995T>G" "" "" "" "NPC2(NM_006432.3):c.442-4A>C (p.?), NPC2(NM_006432.5):c.442-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74480292T>G" "" "likely benign" "" "0000304423" "0" "30" "14" "74951111" "74951111" "subst" "0.00123044" "01943" "NPC2_000006" "g.74951111C>T" "" "" "" "NPC2(NM_006432.4):c.363+7G>A, NPC2(NM_006432.5):c.363+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74484408C>T" "" "likely benign" "" "0000304424" "0" "50" "14" "74947404" "74947404" "subst" "0.00374431" "01943" "NPC2_000005" "g.74947404C>T" "" "" "" "NPC2(NM_006432.4):c.441+1G>A, NPC2(NM_006432.5):c.441+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74480701C>T" "" "VUS" "" "0000304425" "0" "50" "14" "74959922" "74959922" "subst" "5.3933E-5" "01943" "NPC2_000009" "g.74959922G>T" "" "" "" "NPC2(NM_006432.4):c.56C>A (p.A19D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74493219G>T" "" "VUS" "" "0000346267" "0" "70" "14" "74961032" "74961032" "subst" "0" "02327" "ISCA2_000001" "g.74961032G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74494329G>A" "" "likely pathogenic" "" "0000459788" "3" "90" "14" "74953134" "74953134" "subst" "0.00220317" "00006" "NPC2_000001" "g.74953134C>T" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74486431C>T" "" "pathogenic (recessive)" "" "0000552986" "0" "10" "14" "74946968" "74946968" "subst" "0.000647101" "02330" "NPC2_000003" "g.74946968A>G" "" "" "" "NPC2(NM_006432.5):c.*9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74480265A>G" "" "benign" "" "0000552987" "0" "10" "14" "74946995" "74946995" "subst" "0.00622786" "02330" "NPC2_000004" "g.74946995T>G" "" "" "" "NPC2(NM_006432.3):c.442-4A>C (p.?), NPC2(NM_006432.5):c.442-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74480292T>G" "" "benign" "" "0000552989" "0" "50" "14" "74947404" "74947404" "subst" "0.00374431" "02325" "NPC2_000005" "g.74947404C>T" "" "" "" "NPC2(NM_006432.4):c.441+1G>A, NPC2(NM_006432.5):c.441+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74480701C>T" "" "VUS" "" "0000552990" "0" "50" "14" "74947404" "74947404" "subst" "0.00374431" "02326" "NPC2_000005" "g.74947404C>T" "" "" "" "NPC2(NM_006432.4):c.441+1G>A, NPC2(NM_006432.5):c.441+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74480701C>T" "" "VUS" "" "0000552991" "0" "10" "14" "74951002" "74951003" "ins" "0" "01943" "NPC2_000011" "g.74951002_74951003insGCT" "" "" "" "NPC2(NM_006432.4):c.363+117_363+118insCAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74484299_74484300insGCT" "" "benign" "" "0000552992" "0" "30" "14" "74951111" "74951111" "subst" "0.00123044" "02329" "NPC2_000006" "g.74951111C>T" "" "" "" "NPC2(NM_006432.4):c.363+7G>A, NPC2(NM_006432.5):c.363+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74484408C>T" "" "likely benign" "" "0000552993" "0" "50" "14" "74951148" "74951148" "subst" "2.03031E-5" "02326" "NPC2_000012" "g.74951148A>C" "" "" "" "NPC2(NM_006432.4):c.333T>G (p.N111K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74484445A>C" "" "VUS" "" "0000552994" "0" "90" "14" "74951167" "74951168" "del" "0" "01943" "NPC2_000013" "g.74951167_74951168del" "" "" "" "NPC2(NM_006432.4):c.313_314delAA (p.K105Dfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74484464_74484465del" "" "pathogenic" "" "0000552995" "0" "30" "14" "74951189" "74951189" "subst" "0.000117757" "01943" "NPC2_000014" "g.74951189T>G" "" "" "" "NPC2(NM_006432.4):c.292A>C (p.N98H), NPC2(NM_006432.5):c.292A>C (p.N98H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74484486T>G" "" "likely benign" "" "0000552996" "0" "30" "14" "74951189" "74951189" "subst" "0.000117757" "02329" "NPC2_000014" "g.74951189T>G" "" "" "" "NPC2(NM_006432.4):c.292A>C (p.N98H), NPC2(NM_006432.5):c.292A>C (p.N98H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74484486T>G" "" "likely benign" "" "0000552997" "0" "50" "14" "74951269" "74951269" "subst" "0.000381717" "02329" "NPC2_000015" "g.74951269T>C" "" "" "" "NPC2(NM_006432.5):c.212A>G (p.K71R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74484566T>C" "" "VUS" "" "0000552998" "0" "30" "14" "74953018" "74953018" "subst" "0.00481534" "02329" "NPC2_000008" "g.74953018C>T" "" "" "" "NPC2(NM_006432.5):c.190+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74486315C>T" "" "likely benign" "" "0000552999" "0" "30" "14" "74953134" "74953134" "subst" "0.00220317" "01943" "NPC2_000001" "g.74953134C>T" "" "" "" "NPC2(NM_006432.4):c.88G>A (p.V30M), NPC2(NM_006432.5):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74486431C>T" "" "likely benign" "" "0000553000" "0" "30" "14" "74953134" "74953134" "subst" "0.00220317" "02325" "NPC2_000001" "g.74953134C>T" "" "" "" "NPC2(NM_006432.4):c.88G>A (p.V30M), NPC2(NM_006432.5):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74486431C>T" "" "likely benign" "" "0000553001" "0" "30" "14" "74953134" "74953134" "subst" "0.00220317" "02329" "NPC2_000001" "g.74953134C>T" "" "" "" "NPC2(NM_006432.4):c.88G>A (p.V30M), NPC2(NM_006432.5):c.88G>A (p.V30M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74486431C>T" "" "likely benign" "" "0000553002" "0" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "01943" "NPC2_000016" "g.74959920C>A" "" "" "" "NPC2(NM_006432.4):c.58G>T (p.E20*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74493217C>A" "" "pathogenic" "" "0000553003" "0" "70" "14" "74960551" "74960551" "subst" "0" "02327" "NPC2_000017" "g.74960551A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74493848A>T" "" "likely pathogenic" "" "0000615070" "0" "50" "14" "74947403" "74947403" "dup" "0" "02327" "NPC2_000018" "g.74947403dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74480700dup" "" "VUS" "" "0000623161" "0" "30" "14" "74951304" "74951304" "dup" "0" "01943" "NPC2_000019" "g.74951304dup" "" "" "" "NPC2(NM_001363688.1):c.191-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74484601dup" "" "likely benign" "" "0000623162" "0" "30" "14" "74960844" "74960844" "subst" "4.9648E-6" "01943" "NPC2_000020" "g.74960844A>C" "" "" "" "ISCA2(NM_194279.3):c.163A>C (p.S55R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74494141A>C" "" "likely benign" "" "0000648968" "1" "50" "14" "74947404" "74947404" "subst" "0.00374431" "03575" "NPC2_000005" "g.74947404C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs140130028}" "Germline" "" "rs140130028" "0" "" "" "g.74480701C>T" "" "VUS" "" "0000680024" "0" "30" "14" "74951252" "74951252" "subst" "0" "01804" "NPC2_000021" "g.74951252T>A" "" "" "" "NPC2(NM_006432.3):c.229A>T (p.(Ile77Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680025" "0" "50" "14" "74961565" "74961565" "subst" "0" "02325" "NPC2_000022" "g.74961565C>A" "" "" "" "ISCA2(NM_194279.4):c.327C>A (p.D109E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724853" "0" "30" "14" "74953054" "74953054" "subst" "0" "01943" "NPC2_000023" "g.74953054G>A" "" "" "" "NPC2(NM_006432.4):c.168C>T (p.S56=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724854" "0" "30" "14" "74960521" "74960521" "subst" "0" "01943" "NPC2_000024" "g.74960521G>C" "" "" "" "ISCA2(NM_194279.3):c.44G>C (p.R15T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806481" "0" "30" "14" "74960790" "74960790" "subst" "0" "01943" "NPC2_000025" "g.74960790G>A" "" "" "" "ISCA2(NM_194279.3):c.109G>A (p.E37K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863639" "0" "50" "14" "74960999" "74960999" "subst" "0" "01943" "NPC2_000026" "g.74960999G>A" "" "" "" "ISCA2(NM_194279.3):c.196G>A (p.G66R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914215" "0" "70" "14" "74953031" "74953031" "subst" "0" "02327" "NPC2_000027" "g.74953031C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000921987" "3" "90" "14" "74951117" "74953140" "del" "0" "00006" "NPC2_000028" "g.(74947483_74951117)_(74953140_74959895)del" "" "{PMID:Hebbar 2016:27271431}" "" "del ex2-3" "" "Germline" "" "" "0" "" "" "g.(74480780_74484414)_(74486437_74493192)del" "" "pathogenic (recessive)" "" "0000921991" "3" "90" "14" "74959977" "74959977" "subst" "0" "00006" "NPC2_000042" "g.74959977T>R" "" "{PMID:Fancello 2009:19252935}" "" "M1L" "" "Germline" "" "" "0" "" "" "g.74493274T>R" "" "pathogenic (recessive)" "" "0000922003" "3" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Fancello 2009:19252935}" "" "E20X" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922004" "3" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Fancello 2009:19252935}" "" "E20X" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922051" "3" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Naureckiene 2000:11125141}, {PMID:Milat 2001:11567215}" "" "G>T E20X" "no protein detectable" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000922052" "1" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Naureckiene 2000:11125141}" "" "G>T E20X" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000922053" "2" "90" "14" "74951150" "74951150" "del" "0" "00006" "NPC2_000029" "g.74951150del" "" "{PMID:Naureckiene 2000:11125141}" "" "331delA" "" "Germline" "" "" "0" "" "" "g.74484447del" "" "pathogenic (recessive)" "" "0000922055" "3" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Milat 2001:11567215}" "" "G58T" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922056" "1" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Milat 2001:11567215}" "" "G58T" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922057" "3" "90" "14" "74951129" "74951129" "subst" "4.06085E-6" "00006" "NPC2_000037" "g.74951129C>A" "" "{PMID:Milat 2001:11567215}" "" "G352T" "" "Germline" "" "" "0" "" "" "g.74484426C>A" "" "pathogenic (recessive)" "" "0000922058" "3" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Milat 2001:11567215}" "" "G58T" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922059" "3" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Milat 2001:11567215}" "" "G58T" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922060" "3" "90" "14" "74951282" "74951282" "subst" "0" "00006" "NPC2_000007" "g.74951282A>G" "" "{PMID:Milat 2001:11567215}" "" "T199C" "" "Germline" "" "" "0" "" "" "g.74484579A>G" "" "pathogenic (recessive)" "" "0000922061" "3" "90" "14" "74953027" "74953027" "subst" "4.45408E-5" "00006" "NPC2_000038" "g.74953027C>T" "" "{PMID:Milat 2001:11567215}" "" "IVS2+5G>A" "" "Germline" "" "" "0" "" "" "g.74486324C>T" "" "pathogenic (recessive)" "" "0000922062" "2" "90" "14" "74959951" "74959951" "del" "0" "00006" "NPC2_000041" "g.74959951del" "" "{PMID:Milat 2001:11567215}" "" "27delG" "" "Germline" "" "" "0" "" "" "g.74493248del" "" "pathogenic (recessive)" "" "0000922063" "3" "90" "14" "74953107" "74953107" "subst" "0" "00006" "NPC2_000030" "g.74953107C>T" "" "{PMID:Klunemann 2002:12447927}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74486404C>T" "" "pathogenic (recessive)" "" "0000922068" "3" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Verot 2007:17470133}" "" "E20X" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922069" "3" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Verot 2007:17470133}" "" "E20X" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922070" "3" "90" "14" "74953057" "74953057" "subst" "0" "00006" "NPC2_000039" "g.74953057G>C" "" "{PMID:Verot 2007:17470133}" "" "Y55X" "" "Germline" "" "" "0" "" "" "g.74486354G>C" "" "pathogenic (recessive)" "" "0000922071" "3" "90" "14" "74959894" "74959894" "subst" "0" "00006" "NPC2_000031" "g.74959894A>G" "" "{PMID:Verot 2007:17470133}" "" "IVS1+2 t>c" "no detectable protein" "Germline" "" "" "0" "" "" "g.74493191A>G" "" "pathogenic (recessive)" "" "0000922072" "3" "90" "14" "74951123" "74951123" "subst" "8.1217E-6" "00006" "NPC2_000036" "g.74951123G>A" "" "{PMID:Verot 2007:17470133}" "" "P120S" "" "Germline" "" "" "0" "" "" "g.74484420G>A" "" "pathogenic (recessive)" "" "0000922073" "3" "90" "14" "74947410" "74947410" "subst" "0" "00006" "NPC2_000035" "g.74947410G>A" "" "{PMID:Verot 2007:17470133}" "" "Q146X" "" "Germline" "" "" "0" "" "" "g.74480707G>A" "" "pathogenic (recessive)" "" "0000922109" "3" "90" "14" "74951123" "74951123" "subst" "8.1217E-6" "00006" "NPC2_000036" "g.74951123G>A" "" "{PMID:Millat 2005:16126423}" "" "" "" "Germline" "" "" "0" "" "" "g.74484420G>A" "" "pathogenic (recessive)" "" "0000922110" "3" "90" "14" "74947410" "74947410" "subst" "0" "00006" "NPC2_000035" "g.74947410G>A" "" "{PMID:Millat 2005:16126423}" "" "" "" "Germline" "" "" "0" "" "" "g.74480707G>A" "" "pathogenic (recessive)" "" "0000922150" "3" "90" "14" "74953089" "74953089" "subst" "0" "00006" "NPC2_000032" "g.74953089G>A" "" "{PMID:Varnier 2004:15465422}" "" "C172T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000922151" "3" "90" "14" "74953081" "74953081" "subst" "0" "00006" "NPC2_000033" "g.74953081G>T" "" "{PMID:Varnier 2004:15465422}" "" "C141A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000922152" "3" "90" "14" "74951186" "74951186" "subst" "4.06065E-6" "00006" "NPC2_000034" "g.74951186A>G" "" "{PMID:Varnier 2004:15465422}" "" "T295C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000922172" "1" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Park 2003:12955717}" "" "" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922173" "3" "90" "14" "74959894" "74959894" "subst" "0" "00006" "NPC2_000031" "g.74959894A>G" "" "{PMID:Park 2003:12955717}" "" "IVS1+2T>C" "" "Germline" "" "" "0" "" "" "g.74493191A>G" "" "pathogenic (recessive)" "" "0000922174" "1" "50" "14" "74953134" "74953134" "subst" "0.00220317" "00006" "NPC2_000001" "g.74953134C>T" "" "{PMID:Park 2003:12955717}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.74486431C>T" "" "VUS" "" "0000922175" "3" "90" "14" "74953107" "74953107" "subst" "0" "00006" "NPC2_000030" "g.74953107C>T" "" "{PMID:Park 2003:12955717}" "" "" "" "Germline" "" "" "0" "" "" "g.74486404C>T" "" "pathogenic (recessive)" "" "0000922176" "1" "90" "14" "74953082" "74953082" "subst" "0" "00006" "NPC2_000040" "g.74953082C>A" "" "{PMID:Park 2003:12955717}" "" "" "" "Germline" "" "" "0" "" "" "g.74486379C>A" "" "pathogenic (recessive)" "" "0000922177" "3" "90" "14" "74951203" "74951203" "subst" "1.62426E-5" "00006" "NPC2_000002" "g.74951203C>A" "" "{PMID:Park 2003:12955717}" "" "" "" "Germline" "" "" "0" "" "" "g.74484500C>A" "" "pathogenic (recessive)" "" "0000922178" "2" "90" "14" "74951150" "74951150" "del" "0" "00006" "NPC2_000029" "g.74951150del" "" "{PMID:Park 2003:12955717}" "" "331delA" "" "Germline" "" "" "0" "" "" "g.74484447del" "" "pathogenic (recessive)" "" "0000922179" "2" "90" "14" "74959920" "74959920" "subst" "7.89463E-5" "00006" "NPC2_000016" "g.74959920C>A" "" "{PMID:Park 2003:12955717}" "" "" "" "Germline" "" "" "0" "" "" "g.74493217C>A" "" "pathogenic (recessive)" "" "0000922781" "3" "90" "14" "74953089" "74953089" "subst" "0" "00006" "NPC2_000032" "g.74953089G>A" "" "{PMID:Chikh 2005:15937921}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000922783" "3" "90" "14" "74953081" "74953081" "subst" "0" "00006" "NPC2_000033" "g.74953081G>T" "" "{PMID:Chikh 2005:15937921}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000922784" "3" "90" "14" "74951186" "74951186" "subst" "4.06065E-6" "00006" "NPC2_000034" "g.74951186A>G" "" "{PMID:Chikh 2005:15937921}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000980995" "0" "50" "14" "74947375" "74947375" "subst" "0.0003128" "01804" "NPC2_000043" "g.74947375C>T" "" "" "" "NPC2(NM_001363688.1):c.471G>A (p.(Trp157*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001141" "0" "30" "14" "74946995" "74946995" "subst" "0.00622786" "01804" "NPC2_000004" "g.74946995T>G" "" "" "" "NPC2(NM_006432.3):c.442-4A>C (p.?), NPC2(NM_006432.5):c.442-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001012398" "1" "90" "14" "74947404" "74947404" "subst" "0.00374431" "00006" "NPC2_000005" "g.74947404C>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.74480701C>T" "" "pathogenic" "" "0001054882" "0" "30" "14" "74947402" "74947402" "subst" "0" "01804" "NPC2_000044" "g.74947402T>C" "" "" "" "NPC2(NM_006432.5):c.441+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 NPC2 ## Count = 84 "{{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}}" "0000000439" "00000131" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "2" "0000000440" "00000131" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "2" "0000130107" "00000131" "90" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "" "0000249567" "00000131" "30" "465" "0" "465" "0" "c.*9T>C" "r.(=)" "p.(=)" "" "0000252575" "00000131" "90" "199" "0" "199" "0" "c.199T>C" "r.(?)" "p.(Ser67Pro)" "" "0000296588" "00000131" "30" "190" "14" "190" "14" "c.190+14G>A" "r.(=)" "p.(=)" "" "0000296589" "00000131" "30" "363" "7" "363" "7" "c.363+7G>A" "r.(=)" "p.(=)" "" "0000298747" "00000131" "30" "441" "1" "441" "1" "c.441+1G>A" "r.spl?" "p.?" "" "0000298748" "00000131" "30" "442" "-4" "442" "-4" "c.442-4A>C" "r.spl?" "p.?" "" "0000304423" "00000131" "30" "363" "7" "363" "7" "c.363+7G>A" "r.(=)" "p.(=)" "" "0000304424" "00000131" "50" "441" "1" "441" "1" "c.441+1G>A" "r.spl?" "p.?" "" "0000304425" "00000131" "50" "56" "0" "56" "0" "c.56C>A" "r.(?)" "p.(Ala19Asp)" "" "0000346267" "00000131" "70" "-1055" "0" "-1055" "0" "c.-1055C>T" "r.(?)" "p.(=)" "" "0000459788" "00000131" "90" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "0000552986" "00000131" "10" "465" "0" "465" "0" "c.*9T>C" "r.(=)" "p.(=)" "" "0000552987" "00000131" "10" "442" "-4" "442" "-4" "c.442-4A>C" "r.spl?" "p.?" "" "0000552989" "00000131" "50" "441" "1" "441" "1" "c.441+1G>A" "r.spl?" "p.?" "" "0000552990" "00000131" "50" "441" "1" "441" "1" "c.441+1G>A" "r.spl?" "p.?" "" "0000552991" "00000131" "10" "363" "117" "363" "118" "c.363+117_363+118insCAG" "r.(=)" "p.(=)" "" "0000552992" "00000131" "30" "363" "7" "363" "7" "c.363+7G>A" "r.(=)" "p.(=)" "" "0000552993" "00000131" "50" "333" "0" "333" "0" "c.333T>G" "r.(?)" "p.(Asn111Lys)" "" "0000552994" "00000131" "90" "313" "0" "314" "0" "c.313_314del" "r.(?)" "p.(Lys105AspfsTer3)" "" "0000552995" "00000131" "30" "292" "0" "292" "0" "c.292A>C" "r.(?)" "p.(Asn98His)" "" "0000552996" "00000131" "30" "292" "0" "292" "0" "c.292A>C" "r.(?)" "p.(Asn98His)" "" "0000552997" "00000131" "50" "212" "0" "212" "0" "c.212A>G" "r.(?)" "p.(Lys71Arg)" "" "0000552998" "00000131" "30" "190" "14" "190" "14" "c.190+14G>A" "r.(=)" "p.(=)" "" "0000552999" "00000131" "30" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "0000553000" "00000131" "30" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "0000553001" "00000131" "30" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "" "0000553002" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "" "0000553003" "00000131" "70" "-574" "0" "-574" "0" "c.-574T>A" "r.(?)" "p.(=)" "" "0000615070" "00000131" "50" "441" "2" "441" "2" "c.441+2dup" "r.spl?" "p.?" "" "0000623161" "00000131" "30" "191" "-8" "191" "-8" "c.191-8dup" "r.(=)" "p.(=)" "" "0000623162" "00000131" "30" "-867" "0" "-867" "0" "c.-867T>G" "r.(?)" "p.(=)" "" "0000648968" "00000131" "50" "441" "1" "441" "1" "c.441+1G>A" "r.spl?" "p.?" "" "0000680024" "00000131" "30" "229" "0" "229" "0" "c.229A>T" "r.(?)" "p.(Ile77Phe)" "" "0000680025" "00000131" "50" "-1588" "0" "-1588" "0" "c.-1588G>T" "r.(?)" "p.(=)" "" "0000724853" "00000131" "30" "168" "0" "168" "0" "c.168C>T" "r.(?)" "p.(Ser56=)" "" "0000724854" "00000131" "30" "-544" "0" "-544" "0" "c.-544C>G" "r.(?)" "p.(=)" "" "0000806481" "00000131" "30" "-813" "0" "-813" "0" "c.-813C>T" "r.(?)" "p.(=)" "" "0000863639" "00000131" "50" "-1022" "0" "-1022" "0" "c.-1022C>T" "r.(?)" "p.(=)" "" "0000914215" "00000131" "70" "190" "1" "190" "1" "c.190+1G>C" "r.spl?" "p.?" "" "0000921987" "00000131" "90" "83" "-1" "363" "1" "c.(82+1_83-1)_(363+1_364-1)del" "r.(83_363del)" "p.?" "1i_3i" "0000921991" "00000131" "90" "1" "0" "1" "0" "c.1A>Y" "r.(?)" "p.(Met1?)" "1" "0000922003" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "1" "0000922004" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "1" "0000922051" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.0" "p.0" "1" "0000922052" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.0" "p.0" "1" "0000922053" "00000131" "90" "332" "0" "332" "0" "c.332del" "r.(?)" "p.(Asn111Ilefs*5)" "3" "0000922055" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "1" "0000922056" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "1" "0000922057" "00000131" "90" "352" "0" "352" "0" "c.352G>T" "r.(?)" "p.(Glu118Ter)" "3" "0000922058" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "1" "0000922059" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "1" "0000922060" "00000131" "90" "199" "0" "199" "0" "c.199T>C" "r.(?)" "p.(Ser67Pro)" "3" "0000922061" "00000131" "90" "190" "5" "190" "5" "c.190+5G>A" "r.[115_190del,83_190del,190_191insgugcauaaaa,=]" "p.[Gly28fs,Asn64fs,=]" "2i" "0000922062" "00000131" "90" "27" "0" "27" "0" "c.27del" "r.(?)" "p.(Leu10SerfsTer25)" "1" "0000922063" "00000131" "90" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Val39Met)" "" "0000922068" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "" "0000922069" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "" "0000922070" "00000131" "90" "165" "0" "165" "0" "c.165C>G" "r.(?)" "p.(Tyr55Ter)" "" "0000922071" "00000131" "90" "82" "2" "82" "2" "c.82+2T>C" "r.[82_83ins[gc;82+3_82+22;82+210_82+244];82_83ins[gc;82+3_82+22],64_82del]" "p.0" "1i" "0000922072" "00000131" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Pro120Ser)" "" "0000922073" "00000131" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Gln146Ter)" "" "0000922109" "00000131" "90" "358" "0" "358" "0" "c.358C>T" "r.(?)" "p.(Pro120Ser)" "3" "0000922110" "00000131" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(Gln146Ter)" "4" "0000922150" "00000131" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45*)" "2" "0000922151" "00000131" "90" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Cys47*)" "2" "0000922152" "00000131" "90" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Cys99Arg)" "3" "0000922172" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "1" "0000922173" "00000131" "90" "82" "2" "82" "2" "c.82+2T>C" "r.spl" "p.?" "1i" "0000922174" "00000131" "50" "88" "0" "88" "0" "c.88G>A" "r.(?)" "p.(Val30Met)" "2" "0000922175" "00000131" "90" "115" "0" "115" "0" "c.115G>A" "r.(?)" "p.(Val39Met)" "2" "0000922176" "00000131" "90" "140" "0" "140" "0" "c.140G>T" "r.(?)" "p.(Cys47Phe)" "2" "0000922177" "00000131" "90" "278" "0" "278" "0" "c.278G>T" "r.(?)" "p.(Cys93Phe)" "3" "0000922178" "00000131" "90" "332" "0" "332" "0" "c.332del" "r.(?)" "p.(Asn111IlefsTer5)" "3" "0000922179" "00000131" "90" "58" "0" "58" "0" "c.58G>T" "r.(?)" "p.(Glu20Ter)" "1" "0000922781" "00000131" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45*)" "" "0000922783" "00000131" "90" "141" "0" "141" "0" "c.141C>A" "r.(?)" "p.(Cys47*)" "" "0000922784" "00000131" "90" "295" "0" "295" "0" "c.295T>C" "r.(?)" "p.(Cys99Arg)" "" "0000980995" "00000131" "50" "441" "30" "441" "30" "c.441+30G>A" "r.(=)" "p.(=)" "" "0001001141" "00000131" "30" "442" "-4" "442" "-4" "c.442-4A>C" "r.spl?" "p.?" "" "0001012398" "00000131" "90" "441" "1" "441" "1" "c.441+1G>A" "r.spl" "p.?" "" "0001054882" "00000131" "30" "441" "3" "441" "3" "c.441+3A>G" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{variantid}}" "0000000060" "0000000439" "0000000082" "0000000440" "0000081021" "0000130107" "0000226733" "0000459788" "0000292279" "0000648968" "0000435780" "0000921987" "0000435784" "0000921991" "0000435796" "0000922003" "0000435797" "0000922004" "0000435825" "0000922051" "0000435826" "0000922052" "0000435826" "0000922053" "0000435827" "0000922055" "0000435828" "0000922056" "0000435828" "0000922062" "0000435829" "0000922057" "0000435830" "0000922058" "0000435831" "0000922059" "0000435832" "0000922060" "0000435833" "0000922061" "0000435834" "0000922063" "0000435835" "0000922068" "0000435836" "0000922069" "0000435837" "0000922070" "0000435838" "0000922071" "0000435839" "0000922072" "0000435840" "0000922073" "0000435875" "0000922109" "0000435876" "0000922110" "0000435888" "0000922150" "0000435889" "0000922151" "0000435890" "0000922152" "0000435901" "0000922172" "0000435901" "0000922178" "0000435902" "0000922173" "0000435903" "0000922174" "0000435904" "0000922175" "0000435905" "0000922176" "0000435905" "0000922179" "0000435906" "0000922177" "0000436401" "0000922781" "0000436402" "0000922783" "0000436403" "0000922784" "0000457851" "0001012398"