### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NEK1) # 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}}" "NEK1" "NIMA-related kinase 1" "4" "q32.3" "unknown" "NG_027982.1" "UD_132118344744" "" "http://www.LOVD.nl/NEK1" "" "1" "7744" "4750" "604588" "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/NEK1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-04-29 16:05:02" "00000" "2025-05-05 21:14:00" ## 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}}" "00014465" "NEK1" "NIMA (never in mitosis gene a)-related kinase 1, transcript variant 1" "003" "NM_001199397.1" "" "NP_001186326.1" "" "" "" "-578" "5101" "3861" "170533778" "170314421" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00677" "SRTD6;SRPS2A" "dysplasia, thoracic, short-rib, type 6 with/without polydactyly (SRTD-6, short rib polydactyly syndrome 2A (SRPS-2A))" "AR;DR" "263520" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "05160" "MOHR;OFD2" "MOHR syndrome (MOHR, orofaciodigital syndrome type 2 (OFD-2))" "AR" "252100" "" "" "" "00006" "2016-04-29 16:00:23" "00006" "2021-12-10 21:51:32" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "06631" "ALS24" "{Amyotrophic lateral sclerosis, susceptibility to, 24}" "AD" "617892" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "NEK1" "00677" "NEK1" "06631" ## 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}}" "00019893" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00064295" "" "" "" "2" "" "01563" "{PMID:Monroe 2016:27530628}, {DOI:Monroe 2016:10.1038/ejhg.2016.103}" "6-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Netherlands" "" "0" "yes" "none" "Dutch" "FamPatVi2" "00064296" "" "" "00064295" "1" "" "01563" "{PMID:Monroe 2016:27530628}, {DOI:Monroe 2016:10.1038/ejhg.2016.103}" "" "M" "yes" "Netherlands" "" "0" "yes" "none" "Dutch" "FamPatVi3" "00293578" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293579" "" "" "" "59" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293580" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293581" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304988" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00326095" "" "" "" "1" "" "03942" "" "" "F" "no" "Italy" ">57y" "0" "" "" "white" "" "00326102" "" "" "" "1" "" "03942" "" "" "F" "no" "Italy" ">62y" "" "" "" "white" "" "00326103" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" "61y" "" "" "" "" "" "00326104" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">57y" "" "" "" "" "" "00326105" "" "" "" "1" "" "03942" "" "" "F" "no" "Italy" ">70y" "" "" "" "" "" "00326508" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" "49y" "" "" "" "" "" "00326509" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">47y" "" "" "" "" "" "00326510" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">69y" "" "" "" "" "" "00326662" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" "81y" "" "" "" "" "" "00326663" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">66y" "" "" "" "" "" "00326665" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">59y" "" "" "" "" "" "00326666" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">75y" "" "" "" "" "" "00326667" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">48y" "" "" "" "" "" "00326668" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" "" "" "" "" "" "" "00326669" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">64y" "" "" "" "" "" "00326670" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">72y" "" "" "" "" "" "00326798" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" "58y" "" "" "" "" "" "00326799" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" "74y" "" "" "" "" "" "00326800" "" "" "" "1" "" "03942" "" "" "M" "no" "Italy" ">66y" "" "" "" "" "" "00331516" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "yes" "" "" "0" "" "" "Arab" "17DG0481, 17DG0482" "00331517" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "no" "" "" "0" "" "" "Arab" "12DG2382" "00380717" "" "" "" "1" "" "01164" "" "" "M" "likely" "Turkey" "" "0" "" "" "" "185159" "00388432" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R02-449A" "00388433" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R04-510" "00388434" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R05-304A" "00388435" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R08-159A" "00388436" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R96-291A" "00388437" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R97-145A" "00388438" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R98-463E" "00388461" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "East Asian" "R03-092A" "00388462" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "East Asian" "R03-092D" "00388464" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "Unsolved case: biallelic causative mutations not identify" "" "" "" "" "0" "" "" "African American" "R02-109" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 40 "{{individualid}}" "{{diseaseid}}" "00019893" "00139" "00064295" "05160" "00064296" "05160" "00293578" "00198" "00293579" "00198" "00293580" "00198" "00293581" "00198" "00304988" "00198" "00326095" "04255" "00326102" "04255" "00326103" "04255" "00326104" "04255" "00326105" "04255" "00326508" "04255" "00326509" "04255" "00326510" "04255" "00326662" "04255" "00326663" "04255" "00326665" "04255" "00326666" "04255" "00326667" "04255" "00326668" "04255" "00326669" "04255" "00326670" "04255" "00326798" "04255" "00326799" "04255" "00326800" "04255" "00331516" "05517" "00331517" "05517" "00380717" "00677" "00388432" "00198" "00388433" "00198" "00388434" "00198" "00388435" "00198" "00388436" "00198" "00388437" "00198" "00388438" "00198" "00388461" "00198" "00388462" "00198" "00388464" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00677, 04255, 05160, 05517, 06631 ## Count = 35 "{{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}}" "0000020347" "00139" "00019893" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050834" "05160" "00064296" "01563" "Familial, autosomal recessive" "" "incomplete midline lip, alveolar cleft (HP:0010289), submucous cleft hard palate (HP:0000176), bifid tongue with hyperplastic frenula, tongue hamartomas, general dental hypoplasia (HP:0006282), dental agenesis (HP:0000674), central incisors and cuspids with talon cusps, taurodontia (HP:0000679), maxillary hypoplasia (HP:0010650), brachydactyly, syndactyly of fingers, bilateral broad hallux, mild mesomeric limb shortening in lower limbs, mild conductivehearing loss, bilateral tortuosity of the retinal veins (HP:0012841)" "" "" "" "" "" "" "" "" "" "" "" "0000050835" "05160" "00064295" "01563" "Familial, autosomal recessive" "" "incomplete midline lip, alveolar cleft (HP:0010289), Submucous cleft hard palate (HP:0000176), hyperplastic frenula, tongue hamartomas, general dental hypoplasia (HP:0006282), dental agenesis (HP:0000674), cupular shaped upper incisors, taurodontia (HP:0000679), maxillary hypoplasia (HP:0010650), protruding ears (HP:0000411), brachydactyly, clinodactyly digiti V (HP:0004209), bifid right hallux, broad left hallux, mild mesomeric limb shortening in lower limbs, progressive (mainly conductive) hearing loss (HP:0005101), bilateral tortuosity of the retinal veins (HP:0012841)" "" "" "" "" "" "" "" "" "" "" "" "0000244580" "04255" "00326095" "03942" "Familial" "" "" "56y" "" "" "" "" "" "" "" "" "" "" "0000244587" "04255" "00326102" "03942" "Isolated (sporadic)" "" "" "57y" "" "" "" "" "" "" "" "" "" "" "0000244588" "04255" "00326103" "03942" "Isolated (sporadic)" "" "" "59y" "" "" "" "" "" "" "" "" "" "" "0000244589" "04255" "00326104" "03942" "Isolated (sporadic)" "" "" "52y" "" "" "" "" "" "" "" "" "" "" "0000244590" "04255" "00326105" "03942" "Isolated (sporadic)" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "0000244974" "04255" "00326508" "03942" "Isolated (sporadic)" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "0000244975" "04255" "00326509" "03942" "Familial" "" "" "45y" "" "" "" "" "" "" "" "" "" "" "0000244977" "04255" "00326510" "03942" "Isolated (sporadic)" "" "" "67y" "" "" "" "" "" "" "" "" "" "" "0000245129" "04255" "00326662" "03942" "Isolated (sporadic)" "" "" "77y" "" "" "" "" "" "" "" "" "" "" "0000245130" "04255" "00326663" "03942" "Isolated (sporadic)" "" "" "65y" "" "" "" "" "" "" "" "" "" "" "0000245131" "04255" "00326665" "03942" "Isolated (sporadic)" "" "" "40y" "" "" "" "" "" "" "" "" "" "" "0000245132" "04255" "00326666" "03942" "Isolated (sporadic)" "" "" "71y" "" "" "" "" "" "" "" "" "" "" "0000245133" "04255" "00326667" "03942" "Isolated (sporadic)" "" "" "46y" "" "" "" "" "" "" "" "" "" "" "0000245134" "04255" "00326668" "03942" "Isolated (sporadic)" "" "" "53y" "" "" "" "" "" "" "" "" "" "" "0000245135" "04255" "00326669" "03942" "Familial" "" "" "63y" "" "" "" "" "" "" "" "" "" "" "0000245136" "04255" "00326670" "03942" "Isolated (sporadic)" "" "" "69y" "" "" "" "" "" "" "" "" "" "" "0000245263" "04255" "00326798" "03942" "Isolated (sporadic)" "" "" "54y" "" "" "" "" "" "" "" "" "" "" "0000245264" "04255" "00326799" "03942" "Isolated (sporadic)" "" "" "66y" "" "" "" "" "" "" "" "" "" "" "0000245266" "04255" "00326800" "03942" "Isolated (sporadic)" "" "" "64y" "" "" "" "" "" "" "" "" "" "" "0000249708" "05517" "00331516" "00000" "Familial, autosomal recessive" "" "Short stature, Global developmental delay, Low serum calcifediol, Periventricular leukomaNo" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000249709" "05517" "00331517" "00000" "Familial, autosomal recessive" "" "Polyhydramnios, Dextrocardia, Bifid tongue, Natal tooth, Abnormality of the gingiva, GeneYes" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000274570" "00677" "00380717" "01164" "Familial, autosomal recessive" "" "prenatal ultrasound abnormalities: Short diaphyses, Ascites, Thickened nuchal skin fold, Hyperechogenic kidneys, Renal cyst, Atrioventricular canal defect, Bladder outlet obstruction" "" "" "" "" "" "" "" "" "" "prenatal" "" "0000281984" "00198" "00388432" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000281985" "00198" "00388433" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000281986" "00198" "00388434" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000281987" "00198" "00388435" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000281988" "00198" "00388436" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000281989" "00198" "00388437" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS IV)" "" "0000281990" "00198" "00388438" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000282013" "00198" "00388461" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000282014" "00198" "00388462" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "perinatal lethal short-rib polydactyly syndromes (SRPS II)" "" "0000282016" "00198" "00388464" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" ## 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}}" "0000019886" "00019893" "1" "00705" "00705" "2014-09-15 11:16:53" "00006" "2014-11-08 09:56:47" "SEQ" "DNA" "" "" "0000064428" "00064295" "1" "01563" "01563" "2016-04-28 10:31:54" "" "" "arrayCNV;PAGE;PCR;RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000064429" "00064296" "1" "01563" "01563" "2016-04-28 10:49:42" "" "" "arrayCNV;PAGE;PCR;SEQ;SEQ-NG-I" "DNA;RNA" "blood" "" "0000294746" "00293578" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294747" "00293579" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294748" "00293580" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294749" "00293581" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306117" "00304988" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000327304" "00326095" "1" "03942" "03942" "2021-01-07 15:28:22" "" "" "SEQ-NG" "RNA" "blood" "gene panel" "0000327313" "00326102" "1" "03942" "03942" "2021-01-08 15:14:11" "" "" "SEQ-NG" "DNA" "blood" "" "0000327314" "00326103" "1" "03942" "03942" "2021-01-08 15:26:55" "" "" "SEQ-NG" "DNA" "blood" "" "0000327315" "00326104" "1" "03942" "03942" "2021-01-08 15:33:31" "" "" "SEQ-NG" "DNA" "blood" "" "0000327316" "00326105" "1" "03942" "03942" "2021-01-08 15:55:14" "" "" "SEQ-NG" "DNA" "blood" "" "0000327722" "00326508" "1" "03942" "03942" "2021-01-13 11:18:45" "" "" "SEQ-NG" "DNA" "blood" "" "0000327723" "00326509" "1" "03942" "03942" "2021-01-13 11:39:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000327724" "00326510" "1" "03942" "03942" "2021-01-13 11:43:28" "" "" "SEQ-NG" "DNA" "blood" "" "0000327876" "00326662" "1" "03942" "03942" "2021-01-13 14:37:59" "" "" "SEQ-NG" "DNA" "blood" "" "0000327877" "00326663" "1" "03942" "03942" "2021-01-13 14:42:15" "" "" "SEQ-NG" "DNA" "blood" "" "0000327878" "00326665" "1" "03942" "03942" "2021-01-13 16:09:25" "" "" "SEQ-NG" "DNA" "blood" "" "0000327879" "00326666" "1" "03942" "03942" "2021-01-14 10:48:00" "" "" "SEQ-NG" "DNA" "blood" "" "0000327880" "00326667" "1" "03942" "03942" "2021-01-14 11:17:21" "" "" "SEQ-NG" "DNA" "blood" "" "0000327881" "00326668" "1" "03942" "03942" "2021-01-14 11:22:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000327882" "00326669" "1" "03942" "03942" "2021-01-14 11:25:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000327883" "00326670" "1" "03942" "03942" "2021-01-14 11:29:03" "" "" "SEQ-NG" "DNA" "blood" "" "0000328010" "00326798" "1" "03942" "03942" "2021-01-14 13:39:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000328011" "00326799" "1" "03942" "03942" "2021-01-14 13:42:43" "" "" "SEQ-NG" "DNA" "blood" "" "0000328013" "00326800" "1" "03942" "03942" "2021-01-14 13:45:43" "" "" "SEQ-NG" "DNA" "blood" "" "0000332735" "00331516" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332736" "00331517" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000381931" "00380717" "1" "01164" "01164" "2021-08-20 10:39:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000389673" "00388432" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389674" "00388433" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389675" "00388434" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389676" "00388435" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389677" "00388436" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389678" "00388437" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389679" "00388438" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389702" "00388461" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389703" "00388462" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389705" "00388464" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{geneid}}" "0000019886" "MAST1" "0000019886" "NEK1" "0000064428" "NEK1" "0000064429" "NEK1" "0000327304" "NEK1" "0000327313" "NEK1" "0000327314" "NEK1" "0000327315" "NEK1" "0000327316" "NEK1" "0000327722" "NEK1" "0000327723" "NEK1" "0000327724" "NEK1" "0000327876" "NEK1" "0000327877" "NEK1" "0000327878" "NEK1" "0000327879" "NEK1" "0000327880" "NEK1" "0000327881" "NEK1" "0000327882" "NEK1" "0000327883" "NEK1" "0000328010" "NEK1" "0000328011" "NEK1" "0000328013" "NEK1" "0000332735" "NEK1" "0000332736" "NEK1" "0000381931" "NEK1" "0000389673" "NEK1" "0000389674" "NEK1" "0000389675" "NEK1" "0000389676" "NEK1" "0000389677" "NEK1" "0000389678" "NEK1" "0000389679" "NEK1" "0000389702" "NEK1" "0000389703" "NEK1" "0000389705" "DYNC2H1" ## 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 = 144 "{{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}}" "0000040357" "0" "30" "4" "170359295" "170359295" "subst" "0" "00705" "NEK1_000001" "g.170359295T>G" "" "{PMID:Gilissen 2014:24896178}" "" "" "de novo variant, somatic freq. 0.2" "Somatic" "" "" "0" "" "" "g.169438144T>G" "" "likely benign" "" "0000095831" "21" "90" "4" "170510598" "170510598" "subst" "0" "01563" "NEK1_000003" "g.170510598C>G" "" "{PMID:Monroe 2016:27530628}, {DOI:Monroe 2016:10.1038/ejhg.2016.103}" "" "" "" "Germline" "yes" "" "0" "" "" "g.169589447C>G" "" "pathogenic" "" "0000095832" "11" "90" "4" "170482671" "170482671" "subst" "8.12559E-6" "01563" "NEK1_000002" "g.170482671C>T" "" "{PMID:Monroe 2016:27530628}, {DOI:Monroe 2016:10.1038/ejhg.2016.103}" "" "" "" "Germline" "yes" "" "0" "" "" "g.169561520C>T" "" "pathogenic" "" "0000095833" "21" "90" "4" "170510598" "170510598" "subst" "0" "01563" "NEK1_000003" "g.170510598C>G" "" "{PMID:Monroe 2016:27530628}, {DOI:Monroe 2016:10.1038/ejhg.2016.103}" "" "" "" "Germline" "yes" "" "0" "" "" "g.169589447C>G" "" "pathogenic" "" "0000095834" "11" "90" "4" "170482671" "170482671" "subst" "8.12559E-6" "01563" "NEK1_000002" "g.170482671C>T" "" "{PMID:Monroe 2016:27530628}, {DOI:Monroe 2016:10.1038/ejhg.2016.103}" "" "" "" "Germline" "yes" "" "0" "" "" "g.169561520C>T" "" "pathogenic" "" "0000246210" "0" "10" "4" "170482883" "170482883" "subst" "0.0565206" "02330" "NEK1_000020" "g.170482883A>G" "" "" "" "NEK1(NM_001199397.1):c.1146T>C (p.I382=), NEK1(NM_001199397.3):c.1146T>C (p.I382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169561732A>G" "" "benign" "" "0000246212" "0" "10" "4" "170506703" "170506703" "subst" "0.0731647" "02330" "NEK1_000025" "g.170506703A>G" "" "" "" "NEK1(NM_001199397.1):c.607-3T>C, NEK1(NM_001199397.3):c.607-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169585552A>G" "" "benign" "" "0000253348" "0" "10" "4" "170482883" "170482883" "subst" "0.0565206" "01943" "NEK1_000020" "g.170482883A>G" "" "" "" "NEK1(NM_001199397.1):c.1146T>C (p.I382=), NEK1(NM_001199397.3):c.1146T>C (p.I382=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169561732A>G" "" "benign" "" "0000253405" "0" "10" "4" "170506703" "170506703" "subst" "0.0731647" "01943" "NEK1_000025" "g.170506703A>G" "" "" "" "NEK1(NM_001199397.1):c.607-3T>C, NEK1(NM_001199397.3):c.607-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169585552A>G" "" "benign" "" "0000253778" "0" "10" "4" "170359222" "170359222" "subst" "0.0147276" "01943" "NEK1_000011" "g.170359222A>T" "" "" "" "NEK1(NM_001199397.1):c.2764+12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169438071A>T" "" "benign" "" "0000254413" "0" "30" "4" "170359284" "170359284" "subst" "0" "01943" "NEK1_000012" "g.170359284A>C" "" "" "" "NEK1(NM_001199397.1):c.2714T>G (p.F905C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169438133A>C" "" "likely benign" "" "0000256409" "0" "50" "4" "170398474" "170398474" "subst" "0.00469228" "01943" "NEK1_000014" "g.170398474A>C" "" "" "" "NEK1(NM_001199397.1):c.2235T>G (p.N745K, p.(Asn745Lys)), NEK1(NM_001374418.1):c.2235T>G (p.N745K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169477323A>C" "" "VUS" "" "0000293049" "0" "10" "4" "170477125" "170477125" "subst" "0.03556" "02330" "NEK1_000019" "g.170477125G>A" "" "" "" "NEK1(NM_001199397.1):c.1388C>T (p.A463V, p.(Ala463Val)), NEK1(NM_001199397.3):c.1388C>T (p.A463V), NEK1(NM_012224.3):c.1388C>T (p.A463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169555974G>A" "" "benign" "" "0000293050" "0" "10" "4" "170429402" "170429402" "subst" "0.0475484" "02330" "NEK1_000017" "g.170429402T>C" "" "" "" "NEK1(NM_001199397.1):c.1830A>G (p.E610=), NEK1(NM_001199397.3):c.1830A>G (p.E610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169508251T>C" "" "benign" "" "0000293051" "0" "10" "4" "170428901" "170428901" "subst" "0.0513285" "02330" "NEK1_000016" "g.170428901C>T" "" "" "" "NEK1(NM_001199397.3):c.1876G>A (p.A626T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169507750C>T" "" "benign" "" "0000293052" "0" "10" "4" "170398454" "170398454" "subst" "0.0980485" "02330" "NEK1_000013" "g.170398454T>C" "" "" "" "NEK1(NM_001199397.1):c.2255A>G (p.E752G), NEK1(NM_001199397.3):c.2255A>G (p.E752G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169477303T>C" "" "benign" "" "0000293053" "0" "10" "4" "170354836" "170354836" "subst" "0.877937" "02330" "NEK1_000009" "g.170354836C>T" "" "" "" "NEK1(NM_001199397.1):c.2765-20G>A, NEK1(NM_001199397.3):c.2765-20G>A, NEK1(NM_012224.3):c.2681-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169433685C>T" "" "benign" "" "0000293054" "0" "10" "4" "170345893" "170345893" "subst" "0.0698191" "02330" "NEK1_000007" "g.170345893C>T" "" "" "" "NEK1(NM_001199397.1):c.3033G>A (p.P1011=), NEK1(NM_001199397.3):c.3033G>A (p.P1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169424742C>T" "" "benign" "" "0000293055" "0" "50" "4" "170327819" "170327819" "subst" "8.23127E-6" "02330" "NEK1_000006" "g.170327819C>T" "" "" "" "NEK1(NM_001199397.3):c.3302G>A (p.R1101H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169406668C>T" "" "VUS" "" "0000296421" "0" "10" "4" "170354836" "170354836" "subst" "0.877937" "02325" "NEK1_000009" "g.170354836C>T" "" "" "" "NEK1(NM_001199397.1):c.2765-20G>A, NEK1(NM_001199397.3):c.2765-20G>A, NEK1(NM_012224.3):c.2681-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169433685C>T" "" "benign" "" "0000300015" "0" "30" "4" "170477125" "170477125" "subst" "0.03556" "02326" "NEK1_000019" "g.170477125G>A" "" "" "" "NEK1(NM_001199397.1):c.1388C>T (p.A463V, p.(Ala463Val)), NEK1(NM_001199397.3):c.1388C>T (p.A463V), NEK1(NM_012224.3):c.1388C>T (p.A463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169555974G>A" "" "likely benign" "" "0000300016" "0" "10" "4" "170354873" "170354873" "subst" "0" "02326" "NEK1_000010" "g.170354873T>C" "" "" "" "NEK1(NM_012224.3):c.2681-57A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169433722T>C" "" "benign" "" "0000300017" "0" "10" "4" "170354836" "170354836" "subst" "0.877937" "02326" "NEK1_000009" "g.170354836C>T" "" "" "" "NEK1(NM_001199397.1):c.2765-20G>A, NEK1(NM_001199397.3):c.2765-20G>A, NEK1(NM_012224.3):c.2681-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169433685C>T" "" "benign" "" "0000302997" "0" "50" "4" "170483347" "170483347" "subst" "0.00165754" "01943" "NEK1_000023" "g.170483347C>T" "" "" "" "NEK1(NM_001199397.1):c.1021G>A (p.A341T, p.(Ala341Thr)), NEK1(NM_001374418.1):c.1021G>A (p.A341T), NEK1(NM_012224.4):c.1021G>A (p.A341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169562196C>T" "" "VUS" "" "0000302998" "0" "10" "4" "170483300" "170483300" "subst" "0.0150509" "01943" "NEK1_000022" "g.170483300C>T" "" "" "" "NEK1(NM_001199397.1):c.1068G>A (p.R356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169562149C>T" "" "benign" "" "0000303000" "0" "10" "4" "170477125" "170477125" "subst" "0.03556" "01943" "NEK1_000019" "g.170477125G>A" "" "" "" "NEK1(NM_001199397.1):c.1388C>T (p.A463V, p.(Ala463Val)), NEK1(NM_001199397.3):c.1388C>T (p.A463V), NEK1(NM_012224.3):c.1388C>T (p.A463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169555974G>A" "" "benign" "" "0000303001" "0" "10" "4" "170429402" "170429402" "subst" "0.0475484" "01943" "NEK1_000017" "g.170429402T>C" "" "" "" "NEK1(NM_001199397.1):c.1830A>G (p.E610=), NEK1(NM_001199397.3):c.1830A>G (p.E610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169508251T>C" "" "benign" "" "0000303002" "0" "10" "4" "170398454" "170398454" "subst" "0.0980485" "01943" "NEK1_000013" "g.170398454T>C" "" "" "" "NEK1(NM_001199397.1):c.2255A>G (p.E752G), NEK1(NM_001199397.3):c.2255A>G (p.E752G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169477303T>C" "" "benign" "" "0000303003" "0" "10" "4" "170354836" "170354836" "subst" "0.877937" "01943" "NEK1_000009" "g.170354836C>T" "" "" "" "NEK1(NM_001199397.1):c.2765-20G>A, NEK1(NM_001199397.3):c.2765-20G>A, NEK1(NM_012224.3):c.2681-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169433685C>T" "" "benign" "" "0000303004" "0" "10" "4" "170345893" "170345893" "subst" "0.0698191" "01943" "NEK1_000007" "g.170345893C>T" "" "" "" "NEK1(NM_001199397.1):c.3033G>A (p.P1011=), NEK1(NM_001199397.3):c.3033G>A (p.P1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169424742C>T" "" "benign" "" "0000303005" "0" "30" "4" "170322975" "170322975" "subst" "0.00157266" "01943" "NEK1_000004" "g.170322975C>T" "" "" "" "NEK1(NM_001199397.1):c.3411G>A (p.L1137=), NEK1(NM_001374418.1):c.3411G>A (p.L1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169401824C>T" "" "likely benign" "" "0000330172" "0" "50" "4" "170323012" "170323012" "subst" "0" "01804" "NEK1_000005" "g.170323012C>A" "" "" "" "NEK1(NM_001199397.1):c.3375-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169401861C>A" "" "VUS" "" "0000330173" "0" "50" "4" "170347304" "170347304" "subst" "4.07412E-6" "01804" "NEK1_000008" "g.170347304A>C" "" "" "" "NEK1(NM_001199397.1):c.2967T>G (p.(Ile989Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169426153A>C" "" "VUS" "" "0000330174" "0" "30" "4" "170398474" "170398474" "subst" "0.00469228" "01804" "NEK1_000014" "g.170398474A>C" "" "" "" "NEK1(NM_001199397.1):c.2235T>G (p.N745K, p.(Asn745Lys)), NEK1(NM_001374418.1):c.2235T>G (p.N745K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169477323A>C" "" "likely benign" "" "0000330175" "0" "50" "4" "170400600" "170400600" "subst" "0.000427392" "01804" "NEK1_000015" "g.170400600A>G" "" "" "" "NEK1(NM_001199397.1):c.2093T>C (p.(Met698Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169479449A>G" "" "VUS" "" "0000330176" "0" "50" "4" "170429945" "170429945" "subst" "0" "01804" "NEK1_000018" "g.170429945C>T" "" "" "" "NEK1(NM_001199397.1):c.1724G>A (p.(Gly575Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169508794C>T" "" "VUS" "" "0000330178" "0" "30" "4" "170506525" "170506525" "subst" "0.00235728" "01804" "NEK1_000024" "g.170506525C>T" "" "" "" "NEK1(NM_001199397.1):c.782G>A (p.R261H, p.(Arg261His)), NEK1(NM_001374418.1):c.782G>A (p.R261H), NEK1(NM_012224.4):c.782G>A (p.R261H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169585374C>T" "" "likely benign" "" "0000337336" "0" "10" "4" "170315496" "170315496" "subst" "0" "02327" "NEK1_000027" "g.170315496C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169394345C>T" "" "benign" "" "0000522016" "0" "30" "4" "170359267" "170359267" "subst" "0.00115739" "01804" "NEK1_000031" "g.170359267G>C" "" "" "" "NEK1(NM_001199397.1):c.2731C>G (p.(Gln911Glu)), NEK1(NM_001374418.1):c.2731C>G (p.Q911E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169438116G>C" "" "likely benign" "" "0000522021" "0" "30" "4" "170429488" "170429488" "subst" "9.04835E-5" "01804" "NEK1_000035" "g.170429488A>G" "" "" "" "NEK1(NM_001199397.1):c.1750-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169508337A>G" "" "likely benign" "" "0000522022" "0" "30" "4" "170477125" "170477125" "subst" "0.03556" "01804" "NEK1_000019" "g.170477125G>A" "" "" "" "NEK1(NM_001199397.1):c.1388C>T (p.A463V, p.(Ala463Val)), NEK1(NM_001199397.3):c.1388C>T (p.A463V), NEK1(NM_012224.3):c.1388C>T (p.A463V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169555974G>A" "" "likely benign" "" "0000522024" "0" "30" "4" "170483057" "170483057" "dup" "0" "01804" "NEK1_000038" "g.170483057dup" "" "" "" "NEK1(NM_001199397.1):c.1081-8dup (p.(=)), NEK1(NM_001199397.1):c.1081-8dupT, NEK1(NM_001199397.3):c.1081-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169561906dup" "" "likely benign" "" "0000522025" "0" "10" "4" "170483057" "170483057" "dup" "0" "02330" "NEK1_000038" "g.170483057dup" "" "" "" "NEK1(NM_001199397.1):c.1081-8dup (p.(=)), NEK1(NM_001199397.1):c.1081-8dupT, NEK1(NM_001199397.3):c.1081-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169561906dup" "" "benign" "" "0000522026" "0" "10" "4" "170483057" "170483057" "dup" "0" "01943" "NEK1_000038" "g.170483057dup" "" "" "" "NEK1(NM_001199397.1):c.1081-8dup (p.(=)), NEK1(NM_001199397.1):c.1081-8dupT, NEK1(NM_001199397.3):c.1081-8dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169561906dup" "" "benign" "" "0000522027" "0" "30" "4" "170483284" "170483284" "subst" "6.5083E-5" "01804" "NEK1_000039" "g.170483284A>G" "" "" "" "NEK1(NM_001199397.1):c.1080+4T>C (p.?), NEK1(NM_001199397.2):c.1080+4T>C, NEK1(NM_001199397.3):c.1080+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169562133A>G" "" "likely benign" "" "0000522028" "0" "50" "4" "170506525" "170506525" "subst" "0.00235728" "01943" "NEK1_000024" "g.170506525C>T" "" "" "" "NEK1(NM_001199397.1):c.782G>A (p.R261H, p.(Arg261His)), NEK1(NM_001374418.1):c.782G>A (p.R261H), NEK1(NM_012224.4):c.782G>A (p.R261H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169585374C>T" "" "VUS" "" "0000522029" "0" "10" "4" "170510690" "170510690" "dup" "0" "02330" "NEK1_000040" "g.170510690dup" "" "" "" "NEK1(NM_001199397.3):c.397-15dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169589539dup" "" "benign" "" "0000609116" "0" "30" "4" "170347331" "170347331" "subst" "0.000500468" "01943" "NEK1_000041" "g.170347331C>T" "" "" "" "NEK1(NM_001199397.1):c.2940G>A (p.S980=), NEK1(NM_001374418.1):c.2940G>A (p.S980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169426180C>T" "" "likely benign" "" "0000609117" "0" "30" "4" "170400583" "170400583" "subst" "0.000122326" "01943" "NEK1_000042" "g.170400583C>T" "" "" "" "NEK1(NM_001199397.1):c.2110G>A (p.V704I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169479432C>T" "" "likely benign" "" "0000621375" "0" "30" "4" "170400648" "170400648" "subst" "4.5096E-5" "02325" "NEK1_000033" "g.170400648G>A" "" "" "" "NEK1(NM_001199397.3):c.2045C>T (p.P682L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169479497G>A" "" "likely benign" "" "0000651435" "1" "50" "4" "170398474" "170398474" "subst" "0.00469228" "03575" "NEK1_000014" "g.170398474A>C" "6/2784 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs34324114}" "Germline" "" "rs34324114" "0" "" "" "g.169477323A>C" "" "VUS" "" "0000651436" "1" "30" "4" "170477125" "170477125" "subst" "0.03556" "03575" "NEK1_000019" "g.170477125G>A" "59/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "59 heterozygous; {DB:CLININrs34540355}" "Germline" "" "rs34540355" "0" "" "" "g.169555974G>A" "" "likely benign" "" "0000651437" "1" "50" "4" "170506525" "170506525" "subst" "0.00235728" "03575" "NEK1_000024" "g.170506525C>T" "4/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; {DB:CLININrs200161705}" "Germline" "" "rs200161705" "0" "" "" "g.169585374C>T" "" "VUS" "" "0000651438" "1" "90" "4" "170523664" "170523664" "subst" "0" "03575" "NEK1_000043" "g.170523664C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs794727285}" "Germline" "" "rs794727285" "0" "" "" "g.169602513C>T" "" "pathogenic" "" "0000655123" "0" "30" "4" "170429488" "170429488" "subst" "9.04835E-5" "01943" "NEK1_000035" "g.170429488A>G" "" "" "" "NEK1(NM_001199397.1):c.1750-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169508337A>G" "" "likely benign" "" "0000669805" "3" "30" "4" "170477125" "170477125" "subst" "0.03556" "03575" "NEK1_000019" "g.170477125G>A" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs34540355}" "Germline" "" "rs34540355" "0" "" "" "g.169555974G>A" "" "likely benign" "" "0000677231" "0" "50" "4" "170345733" "170345733" "subst" "0.000179671" "01943" "NEK1_000044" "g.170345733T>C" "" "" "" "NEK1(NM_001199397.1):c.3193A>G (p.T1065A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677232" "0" "50" "4" "170483014" "170483014" "subst" "0" "01804" "NEK1_000045" "g.170483014A>G" "" "" "" "NEK1(NM_001199397.1):c.1109T>C (p.(Phe370Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677233" "0" "30" "4" "170483284" "170483284" "subst" "6.5083E-5" "02325" "NEK1_000039" "g.170483284A>G" "" "" "" "NEK1(NM_001199397.1):c.1080+4T>C (p.?), NEK1(NM_001199397.2):c.1080+4T>C, NEK1(NM_001199397.3):c.1080+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677234" "0" "50" "4" "170498175" "170498175" "subst" "0.0003942" "01943" "NEK1_000046" "g.170498175A>C" "" "" "" "NEK1(NM_001199397.1):c.924T>G (p.I308M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000711023" "0" "70" "4" "170523780" "170523780" "subst" "0" "03942" "NEK1_000050" "g.170523780A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000711030" "0" "70" "4" "170508739" "170508739" "subst" "0" "03942" "NEK1_000049" "g.170508739G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000711031" "0" "50" "4" "170483347" "170483347" "subst" "0.00165754" "03942" "NEK1_000023" "g.170483347C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000711032" "0" "50" "4" "170483338" "170483338" "subst" "0" "03942" "NEK1_000047" "g.170483338T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000711033" "0" "50" "4" "170482985" "170482985" "subst" "0" "03942" "NEK1_000048" "g.170482985G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000711515" "0" "50" "4" "170458988" "170458988" "subst" "0" "03942" "NEK1_000062" "g.170458988T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169537837T>C" "" "likely benign" "ACMG" "0000711516" "0" "50" "4" "170458960" "170458960" "subst" "4.07143E-6" "03942" "NEK1_000061" "g.170458960C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169537809C>T" "" "likely pathogenic" "ACMG" "0000711517" "0" "50" "4" "170428888" "170428888" "subst" "4.07797E-5" "03942" "NEK1_000060" "g.170428888C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169507737C>T" "" "likely benign" "ACMG" "0000711669" "0" "50" "4" "170428253" "170428253" "subst" "9.86153E-5" "03942" "NEK1_000059" "g.170428253T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169507102T>C" "" "VUS" "ACMG" "0000711670" "0" "50" "4" "170400556" "170400556" "subst" "0.000954536" "03942" "NEK1_000032" "g.170400556C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169479405C>T" "" "likely benign" "ACMG" "0000711671" "0" "50" "4" "170359272" "170359272" "subst" "0.000389852" "03942" "NEK1_000058" "g.170359272G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169438121G>C" "" "likely benign" "ACMG" "0000711672" "0" "50" "4" "170354796" "170354797" "del" "0" "03942" "NEK1_000057" "g.170354796_170354797del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169433645_169433646del" "" "pathogenic" "ACMG" "0000711673" "0" "50" "4" "170345835" "170345839" "del" "0" "03942" "NEK1_000056" "g.170345835_170345839del" "" "" "" "3088_3092delGTTCA" "" "Germline" "" "" "0" "" "" "g.169424684_169424688del" "" "pathogenic" "ACMG" "0000711674" "0" "50" "4" "170327820" "170327820" "subst" "2.47042E-5" "03942" "NEK1_000055" "g.170327820G>A" "" "" "" "c.3217C>T (Arg1073Cys)" "" "Germline" "" "" "0" "" "" "g.169406669G>A" "" "likely benign" "ACMG" "0000711675" "0" "50" "4" "170322949" "170322949" "subst" "4.4722E-5" "03942" "NEK1_000054" "g.170322949C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169401798C>T" "" "likely benign" "ACMG" "0000711676" "0" "50" "4" "170321722" "170321722" "subst" "0" "03942" "NEK1_000053" "g.170321722C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169400571C>T" "" "VUS" "ACMG" "0000711837" "0" "50" "4" "170321430" "170321430" "subst" "1.66783E-5" "03942" "NEK1_000052" "g.170321430G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169400279G>A" "" "VUS" "ACMG" "0000711838" "0" "50" "4" "170321414" "170321414" "subst" "1.04387E-5" "03942" "NEK1_000051" "g.170321414A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169400263A>C" "" "VUS" "ACMG" "0000711839" "0" "50" "4" "170506525" "170506525" "subst" "0.00235728" "03942" "NEK1_000024" "g.170506525C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.169585374C>T" "" "VUS" "ACMG" "0000719825" "0" "50" "4" "170428216" "170428216" "subst" "0" "02325" "NEK1_000063" "g.170428216T>A" "" "" "" "NEK1(NM_012224.4):c.1895A>T (p.E632V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719826" "0" "50" "4" "170428217" "170428217" "subst" "0" "02325" "NEK1_000064" "g.170428217C>T" "" "" "" "NEK1(NM_012224.4):c.1894G>A (p.E632K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719827" "0" "50" "4" "170429443" "170429443" "subst" "9.62058E-5" "01943" "NEK1_000065" "g.170429443A>T" "" "" "" "NEK1(NM_001199397.1):c.1789T>A (p.F597I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000730017" "3" "90" "4" "170429979" "170429980" "del" "0" "00000" "NEK1_000066" "g.170429979_170429980del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001199398.1:c.1558_1559delAT:p.(Met520Valfs*35)" "" "Germline" "" "" "0" "" "" "g.169508828_169508829del" "" "likely pathogenic (recessive)" "" "0000730018" "3" "90" "4" "170429979" "170429980" "del" "0" "00000" "NEK1_000066" "g.170429979_170429980del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001199398.1:c.1558_1559delAT:p.(Met520Valfs*35)" "" "Germline" "" "" "0" "" "" "g.169508828_169508829del" "" "likely pathogenic (recessive)" "" "0000795507" "3" "70" "4" "170510620" "170510620" "subst" "0" "01164" "NEK1_000067" "g.170510620C>A" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000801572" "0" "50" "4" "170322949" "170322949" "subst" "4.4722E-5" "01943" "NEK1_000054" "g.170322949C>T" "" "" "" "NEK1(NM_001199397.1):c.3437G>A (p.R1146K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801573" "0" "30" "4" "170322975" "170322975" "subst" "0.00157266" "02326" "NEK1_000004" "g.170322975C>T" "" "" "" "NEK1(NM_001199397.1):c.3411G>A (p.L1137=), NEK1(NM_001374418.1):c.3411G>A (p.L1137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801574" "0" "50" "4" "170345786" "170345786" "subst" "2.44E-5" "02327" "NEK1_000068" "g.170345786G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801575" "0" "30" "4" "170359414" "170359414" "subst" "0" "01943" "NEK1_000069" "g.170359414T>G" "" "" "" "NEK1(NM_001199397.1):c.2588-4A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801576" "0" "30" "4" "170398474" "170398474" "subst" "0.00469228" "02326" "NEK1_000014" "g.170398474A>C" "" "" "" "NEK1(NM_001199397.1):c.2235T>G (p.N745K, p.(Asn745Lys)), NEK1(NM_001374418.1):c.2235T>G (p.N745K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801577" "0" "70" "4" "170477082" "170477082" "subst" "0" "01943" "NEK1_000070" "g.170477082C>A" "" "" "" "NEK1(NM_001199397.1):c.1430+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000801578" "0" "30" "4" "170483284" "170483284" "subst" "6.5083E-5" "02326" "NEK1_000039" "g.170483284A>G" "" "" "" "NEK1(NM_001199397.1):c.1080+4T>C (p.?), NEK1(NM_001199397.2):c.1080+4T>C, NEK1(NM_001199397.3):c.1080+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000818871" "0" "90" "4" "170459007" "170459007" "subst" "8.1714E-6" "00000" "NEK1_000077" "g.170459007G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.1618C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818872" "0" "90" "4" "170345819" "170345819" "subst" "0.000126042" "00000" "NEK1_000071" "g.170345819G>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.3107C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818873" "0" "90" "4" "170345819" "170345819" "subst" "0.000126042" "00000" "NEK1_000071" "g.170345819G>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.3107C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818874" "0" "90" "4" "170508714" "170508717" "del" "0" "00000" "NEK1_000079" "g.170508714_170508717del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.599_602delAACA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818875" "0" "90" "4" "170347386" "170347386" "subst" "0" "00000" "NEK1_000072" "g.170347386C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.2886-1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818876" "0" "90" "4" "170429462" "170429463" "del" "0" "00000" "NEK1_000076" "g.170429462_170429463del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.1769_1770delGG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818877" "0" "90" "4" "170428909" "170428909" "del" "0" "00000" "NEK1_000075" "g.170428909del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.1868delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818878" "0" "90" "4" "170345819" "170345819" "subst" "0.000126042" "00000" "NEK1_000071" "g.170345819G>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.3107C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818879" "0" "90" "4" "170482671" "170482671" "subst" "8.12559E-6" "00000" "NEK1_000002" "g.170482671C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.1226G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818880" "0" "90" "4" "170354764" "170354767" "del" "8.12949E-6" "00000" "NEK1_000073" "g.170354764_170354767del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.2814_2817delCAAA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818881" "0" "90" "4" "170510644" "170510644" "subst" "2.86053E-5" "00000" "NEK1_000080" "g.170510644C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.418G>A" "variant 2nd chromosome not mentioned" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818882" "0" "90" "4" "170523158" "170523158" "subst" "8.1888E-6" "00000" "NEK1_000081" "g.170523158C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.214+1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818883" "0" "90" "4" "170345819" "170345819" "subst" "0.000126042" "00000" "NEK1_000071" "g.170345819G>C" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.3107C>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818907" "0" "70" "4" "170428203" "170428203" "del" "0" "00000" "NEK1_000074" "g.170428203del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.1992delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818908" "0" "70" "4" "170428203" "170428203" "del" "0" "00000" "NEK1_000074" "g.170428203del" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.1992delA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000818912" "0" "70" "4" "170483001" "170483001" "subst" "0" "00000" "NEK1_000078" "g.170483001T>G" "" "{PMID:Zhang-2019:29068549}" "" "NM_001199397.1:c.1122A>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000850569" "0" "90" "4" "170345819" "170345819" "subst" "0.000126042" "01943" "NEK1_000071" "g.170345819G>C" "" "" "" "NEK1(NM_001199397.1):c.3107C>G (p.S1036*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850570" "0" "50" "4" "170398485" "170398485" "subst" "9.9704E-5" "01943" "NEK1_000083" "g.170398485G>A" "" "" "" "NEK1(NM_001199397.1):c.2224C>T (p.R742C), NEK1(NM_001199397.3):c.2224C>T (p.(Arg742Cys)), NEK1(NM_001374418.1):c.2224C>T (p.R742C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859290" "0" "30" "4" "170327792" "170327792" "subst" "3.71563E-5" "01804" "NEK1_000082" "g.170327792A>G" "" "" "" "NEK1(NM_001199397.1):c.3329T>C (p.(Ile1110Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859291" "0" "30" "4" "170430020" "170430020" "subst" "0.00202336" "02326" "NEK1_000084" "g.170430020G>A" "" "" "" "NEK1(NM_001374418.1):c.1666-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859292" "0" "50" "4" "170477179" "170477179" "subst" "0.000154752" "01943" "NEK1_000037" "g.170477179T>C" "" "" "" "NEK1(NM_001199397.1):c.1334A>G (p.H445R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859293" "0" "30" "4" "170483284" "170483284" "subst" "6.5083E-5" "01943" "NEK1_000039" "g.170483284A>G" "" "" "" "NEK1(NM_001199397.1):c.1080+4T>C (p.?), NEK1(NM_001199397.2):c.1080+4T>C, NEK1(NM_001199397.3):c.1080+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859294" "0" "30" "4" "170483338" "170483338" "subst" "0" "01804" "NEK1_000047" "g.170483338T>C" "" "" "" "NEK1(NM_001199397.1):c.1030A>G (p.(Thr344Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859295" "0" "50" "4" "170506525" "170506525" "subst" "0.00235728" "02325" "NEK1_000024" "g.170506525C>T" "" "" "" "NEK1(NM_001199397.1):c.782G>A (p.R261H, p.(Arg261His)), NEK1(NM_001374418.1):c.782G>A (p.R261H), NEK1(NM_012224.4):c.782G>A (p.R261H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859296" "0" "30" "4" "170506665" "170506665" "subst" "7.73301E-5" "01943" "NEK1_000085" "g.170506665C>T" "" "" "" "NEK1(NM_001199397.1):c.642G>A (p.K214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000859297" "0" "30" "4" "170523841" "170523845" "del" "0" "01804" "NEK1_000086" "g.170523841_170523845del" "" "" "" "NEK1(NM_001199397.1):c.-48-14_-48-10del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886185" "0" "30" "4" "170359267" "170359267" "subst" "0.00115739" "02326" "NEK1_000031" "g.170359267G>C" "" "" "" "NEK1(NM_001199397.1):c.2731C>G (p.(Gln911Glu)), NEK1(NM_001374418.1):c.2731C>G (p.Q911E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886186" "0" "50" "4" "170520291" "170520291" "subst" "1.62688E-5" "01804" "NEK1_000087" "g.170520291C>T" "" "" "" "NEK1(NM_001199397.1):c.272G>A (p.(Arg91Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912079" "0" "30" "4" "170483050" "170483050" "subst" "2.04689E-5" "02326" "NEK1_000088" "g.170483050A>T" "" "" "" "NEK1(NM_001374418.1):c.1081-8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912080" "0" "30" "4" "170483347" "170483347" "subst" "0.00165754" "01804" "NEK1_000023" "g.170483347C>T" "" "" "" "NEK1(NM_001199397.1):c.1021G>A (p.A341T, p.(Ala341Thr)), NEK1(NM_001374418.1):c.1021G>A (p.A341T), NEK1(NM_012224.4):c.1021G>A (p.A341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912081" "0" "50" "4" "170483347" "170483347" "subst" "0.00165754" "02325" "NEK1_000023" "g.170483347C>T" "" "" "" "NEK1(NM_001199397.1):c.1021G>A (p.A341T, p.(Ala341Thr)), NEK1(NM_001374418.1):c.1021G>A (p.A341T), NEK1(NM_012224.4):c.1021G>A (p.A341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912082" "0" "90" "4" "170498120" "170498120" "del" "0" "02325" "NEK1_000089" "g.170498120del" "" "" "" "NEK1(NM_012224.4):c.984delA (p.K328Nfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000924082" "0" "30" "4" "170483347" "170483347" "subst" "0.00165754" "02326" "NEK1_000023" "g.170483347C>T" "" "" "" "NEK1(NM_001199397.1):c.1021G>A (p.A341T, p.(Ala341Thr)), NEK1(NM_001374418.1):c.1021G>A (p.A341T), NEK1(NM_012224.4):c.1021G>A (p.A341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924083" "0" "70" "4" "170508758" "170508764" "del" "0" "02326" "NEK1_000090" "g.170508758_170508764del" "" "" "" "NEK1(NM_001374418.1):c.554_560delACATTTG (p.D185Gfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948286" "0" "50" "4" "170359272" "170359272" "subst" "0.000389852" "02325" "NEK1_000058" "g.170359272G>C" "" "" "" "NEK1(NM_012224.4):c.2642C>G (p.S881C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948287" "0" "30" "4" "170506525" "170506525" "subst" "0.00235728" "02326" "NEK1_000024" "g.170506525C>T" "" "" "" "NEK1(NM_001199397.1):c.782G>A (p.R261H, p.(Arg261His)), NEK1(NM_001374418.1):c.782G>A (p.R261H), NEK1(NM_012224.4):c.782G>A (p.R261H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963065" "0" "50" "4" "170359311" "170359311" "subst" "0" "01804" "NEK1_000091" "g.170359311G>C" "" "" "" "NEK1(NM_001199397.1):c.2687C>G (p.(Ser896Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976204" "0" "30" "4" "170321514" "170321514" "subst" "7.51453E-5" "01804" "NEK1_000092" "g.170321514C>G" "" "" "" "NEK1(NM_001199397.3):c.3715-6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976205" "0" "70" "4" "170321797" "170321798" "ins" "0" "01804" "NEK1_000093" "g.170321797_170321798insTA" "" "" "" "NEK1(NM_001199397.3):c.3588_3589insTA (p.(Ser1197fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976206" "0" "30" "4" "170347298" "170347298" "subst" "0" "01804" "NEK1_000094" "g.170347298T>G" "" "" "" "NEK1(NM_001199397.3):c.2973A>C (p.(Ile991=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976207" "0" "30" "4" "170347331" "170347331" "subst" "0.000500468" "02326" "NEK1_000041" "g.170347331C>T" "" "" "" "NEK1(NM_001199397.1):c.2940G>A (p.S980=), NEK1(NM_001374418.1):c.2940G>A (p.S980=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976208" "0" "70" "4" "170354729" "170354729" "subst" "0" "01804" "NEK1_000095" "g.170354729C>T" "" "" "" "NEK1(NM_001199397.3):c.2852G>A (p.(Trp951*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976209" "0" "70" "4" "170428187" "170428187" "subst" "0" "01804" "NEK1_000096" "g.170428187C>A" "" "" "" "NEK1(NM_001199397.3):c.2007+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000994176" "0" "30" "4" "170384408" "170384408" "subst" "0" "01804" "NEK1_000097" "g.170384408G>T" "" "" "" "NEK1(NM_001199397.1):c.2573C>A (p.(Thr858Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994177" "0" "50" "4" "170398485" "170398485" "subst" "9.9704E-5" "02326" "NEK1_000083" "g.170398485G>A" "" "" "" "NEK1(NM_001199397.1):c.2224C>T (p.R742C), NEK1(NM_001199397.3):c.2224C>T (p.(Arg742Cys)), NEK1(NM_001374418.1):c.2224C>T (p.R742C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994178" "0" "30" "4" "170483268" "170483268" "subst" "0.000391604" "02326" "NEK1_000098" "g.170483268C>T" "" "" "" "NEK1(NM_001374418.1):c.1080+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013944" "0" "30" "4" "170322819" "170322819" "subst" "0.000487944" "02326" "NEK1_000099" "g.170322819G>A" "" "" "" "NEK1(NM_001374418.1):c.3567C>T (p.N1189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034427" "0" "50" "4" "170398485" "170398485" "subst" "9.9704E-5" "01804" "NEK1_000083" "g.170398485G>A" "" "" "" "NEK1(NM_001199397.1):c.2224C>T (p.R742C), NEK1(NM_001199397.3):c.2224C>T (p.(Arg742Cys)), NEK1(NM_001374418.1):c.2224C>T (p.R742C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034428" "0" "30" "4" "170429487" "170429487" "subst" "0.000144893" "02326" "NEK1_000100" "g.170429487A>G" "" "" "" "NEK1(NM_001374418.1):c.1750-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034429" "0" "30" "4" "170483049" "170483049" "dup" "0" "01804" "NEK1_000101" "g.170483049dup" "" "" "" "NEK1(NM_001199397.3):c.1081-7dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034430" "0" "30" "4" "170510592" "170510592" "subst" "2.16014E-5" "01804" "NEK1_000102" "g.170510592T>C" "" "" "" "NEK1(NM_001199397.3):c.464+6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034431" "0" "90" "4" "170511894" "170511894" "subst" "3.6535E-5" "01804" "NEK1_000103" "g.170511894G>A" "" "" "" "NEK1(NM_001199397.3):c.379C>T (p.(Arg127*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 NEK1 ## Count = 144 "{{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}}" "0000040357" "00014465" "30" "2703" "0" "2703" "0" "c.2703A>C" "r.(?)" "p.(Lys901Asn)" "" "0000095831" "00014465" "90" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Ser155Thr)" "6" "0000095832" "00014465" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.1226g>a" "p.Trp409*" "16" "0000095833" "00014465" "90" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Ser155Thr)" "6" "0000095834" "00014465" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Trp409*)" "15" "0000246210" "00014465" "10" "1146" "0" "1146" "0" "c.1146T>C" "r.(?)" "p.(Ile382=)" "" "0000246212" "00014465" "10" "607" "-3" "607" "-3" "c.607-3T>C" "r.spl?" "p.?" "" "0000253348" "00014465" "10" "1146" "0" "1146" "0" "c.1146T>C" "r.(?)" "p.(Ile382=)" "" "0000253405" "00014465" "10" "607" "-3" "607" "-3" "c.607-3T>C" "r.spl?" "p.?" "" "0000253778" "00014465" "10" "2764" "12" "2764" "12" "c.2764+12T>A" "r.(=)" "p.(=)" "" "0000254413" "00014465" "30" "2714" "0" "2714" "0" "c.2714T>G" "r.(?)" "p.(Phe905Cys)" "" "0000256409" "00014465" "50" "2235" "0" "2235" "0" "c.2235T>G" "r.(?)" "p.(Asn745Lys)" "" "0000293049" "00014465" "10" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Ala463Val)" "" "0000293050" "00014465" "10" "1830" "0" "1830" "0" "c.1830A>G" "r.(?)" "p.(Glu610=)" "" "0000293051" "00014465" "10" "1876" "0" "1876" "0" "c.1876G>A" "r.(?)" "p.(Ala626Thr)" "" "0000293052" "00014465" "10" "2255" "0" "2255" "0" "c.2255A>G" "r.(?)" "p.(Glu752Gly)" "" "0000293053" "00014465" "10" "2765" "-20" "2765" "-20" "c.2765-20G>A" "r.(=)" "p.(=)" "" "0000293054" "00014465" "10" "3033" "0" "3033" "0" "c.3033G>A" "r.(?)" "p.(Pro1011=)" "" "0000293055" "00014465" "50" "3302" "0" "3302" "0" "c.3302G>A" "r.(?)" "p.(Arg1101His)" "" "0000296421" "00014465" "10" "2765" "-20" "2765" "-20" "c.2765-20G>A" "r.(=)" "p.(=)" "" "0000300015" "00014465" "30" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Ala463Val)" "" "0000300016" "00014465" "10" "2765" "-57" "2765" "-57" "c.2765-57A>G" "r.(=)" "p.(=)" "" "0000300017" "00014465" "10" "2765" "-20" "2765" "-20" "c.2765-20G>A" "r.(=)" "p.(=)" "" "0000302997" "00014465" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Ala341Thr)" "" "0000302998" "00014465" "10" "1068" "0" "1068" "0" "c.1068G>A" "r.(?)" "p.(Arg356=)" "" "0000303000" "00014465" "10" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Ala463Val)" "" "0000303001" "00014465" "10" "1830" "0" "1830" "0" "c.1830A>G" "r.(?)" "p.(Glu610=)" "" "0000303002" "00014465" "10" "2255" "0" "2255" "0" "c.2255A>G" "r.(?)" "p.(Glu752Gly)" "" "0000303003" "00014465" "10" "2765" "-20" "2765" "-20" "c.2765-20G>A" "r.(=)" "p.(=)" "" "0000303004" "00014465" "10" "3033" "0" "3033" "0" "c.3033G>A" "r.(?)" "p.(Pro1011=)" "" "0000303005" "00014465" "30" "3411" "0" "3411" "0" "c.3411G>A" "r.(?)" "p.(Leu1137=)" "" "0000330172" "00014465" "50" "3375" "-1" "3375" "-1" "c.3375-1G>T" "r.spl?" "p.?" "" "0000330173" "00014465" "50" "2967" "0" "2967" "0" "c.2967T>G" "r.(?)" "p.(Ile989Met)" "" "0000330174" "00014465" "30" "2235" "0" "2235" "0" "c.2235T>G" "r.(?)" "p.(Asn745Lys)" "" "0000330175" "00014465" "50" "2093" "0" "2093" "0" "c.2093T>C" "r.(?)" "p.(Met698Thr)" "" "0000330176" "00014465" "50" "1724" "0" "1724" "0" "c.1724G>A" "r.(?)" "p.(Gly575Glu)" "" "0000330178" "00014465" "30" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000337336" "00014465" "10" "4026" "0" "4026" "0" "c.*165G>A" "r.(=)" "p.(=)" "" "0000522016" "00014465" "30" "2731" "0" "2731" "0" "c.2731C>G" "r.(?)" "p.(Gln911Glu)" "" "0000522021" "00014465" "30" "1750" "-6" "1750" "-6" "c.1750-6T>C" "r.(=)" "p.(=)" "" "0000522022" "00014465" "30" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Ala463Val)" "" "0000522024" "00014465" "30" "1081" "-8" "1081" "-8" "c.1081-8dup" "r.(=)" "p.(=)" "" "0000522025" "00014465" "10" "1081" "-8" "1081" "-8" "c.1081-8dup" "r.(=)" "p.(=)" "" "0000522026" "00014465" "10" "1081" "-8" "1081" "-8" "c.1081-8dup" "r.(=)" "p.(=)" "" "0000522027" "00014465" "30" "1080" "4" "1080" "4" "c.1080+4T>C" "r.spl?" "p.?" "" "0000522028" "00014465" "50" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000522029" "00014465" "10" "397" "-15" "397" "-15" "c.397-15dup" "r.(=)" "p.(=)" "" "0000609116" "00014465" "30" "2940" "0" "2940" "0" "c.2940G>A" "r.(?)" "p.(Ser980=)" "" "0000609117" "00014465" "30" "2110" "0" "2110" "0" "c.2110G>A" "r.(?)" "p.(Val704Ile)" "" "0000621375" "00014465" "30" "2045" "0" "2045" "0" "c.2045C>T" "r.(?)" "p.(Pro682Leu)" "" "0000651435" "00014465" "50" "2235" "0" "2235" "0" "c.2235T>G" "r.(?)" "p.(Asn745Lys)" "" "0000651436" "00014465" "30" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Ala463Val)" "" "0000651437" "00014465" "50" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000651438" "00014465" "90" "117" "1" "117" "1" "c.117+1G>A" "r.spl?" "p.?" "" "0000655123" "00014465" "30" "1750" "-6" "1750" "-6" "c.1750-6T>C" "r.(=)" "p.(=)" "" "0000669805" "00014465" "30" "1388" "0" "1388" "0" "c.1388C>T" "r.(?)" "p.(Ala463Val)" "" "0000677231" "00014465" "50" "3193" "0" "3193" "0" "c.3193A>G" "r.(?)" "p.(Thr1065Ala)" "" "0000677232" "00014465" "50" "1109" "0" "1109" "0" "c.1109T>C" "r.(?)" "p.(Phe370Ser)" "" "0000677233" "00014465" "30" "1080" "4" "1080" "4" "c.1080+4T>C" "r.spl?" "p.?" "" "0000677234" "00014465" "50" "924" "0" "924" "0" "c.924T>G" "r.(?)" "p.(Ile308Met)" "" "0000711023" "00014465" "70" "2" "0" "2" "0" "c.2T>C" "r.0?" "p.Met1?" "" "0000711030" "00014465" "70" "577" "0" "577" "0" "c.577C>T" "r.0?" "p.(Leu193Phe)" "" "0000711031" "00014465" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.0?" "p.(Ala341Thr)" "" "0000711032" "00014465" "50" "1030" "0" "1030" "0" "c.1030A>G" "r.0?" "p.(Thr344Ala)" "" "0000711033" "00014465" "50" "1138" "0" "1138" "0" "c.1138C>G" "r.0?" "p.(Gln380Glu)" "" "0000711515" "00014465" "50" "1637" "0" "1637" "0" "c.1637A>G" "r.0?" "p.(Gln546Arg)" "" "0000711516" "00014465" "50" "1665" "0" "1665" "0" "c.1665G>A" "r.0?" "p.(Met555Ile)" "" "0000711517" "00014465" "50" "1889" "0" "1889" "0" "c.1889G>A" "r.0?" "p.(Arg630His)" "" "0000711669" "00014465" "50" "1942" "0" "1942" "0" "c.1942A>G" "r.0?" "p.(Lys648Glu)" "" "0000711670" "00014465" "50" "2137" "0" "2137" "0" "c.2137G>A" "r.(?)" "p.(Val713Met)" "" "0000711671" "00014465" "50" "2726" "0" "2726" "0" "c.2726C>G" "r.(?)" "p.(Ser909Cys)" "" "0000711672" "00014465" "50" "2785" "0" "2786" "0" "c.2785_2786del" "r.(?)" "p.(Glu929Asnfs*12)" "" "0000711673" "00014465" "50" "3088" "0" "3092" "0" "c.3088_3092del" "r.(?)" "p.(Val1030Ilefs*23)" "" "0000711674" "00014465" "50" "3301" "0" "3301" "0" "c.3301C>T" "r.(?)" "p.(Arg1101Cys)" "" "0000711675" "00014465" "50" "3437" "0" "3437" "0" "c.3437G>A" "r.(?)" "p.(Arg1146Lys)" "" "0000711676" "00014465" "50" "3664" "0" "3664" "0" "c.3664G>A" "r.(?)" "p.(Glu1222Lys)" "" "0000711837" "00014465" "50" "3793" "0" "3793" "0" "c.3793C>T" "r.(?)" "p.(His1265Tyr)" "" "0000711838" "00014465" "50" "3809" "0" "3809" "0" "c.3809T>G" "r.(?)" "p.(Ile1270Ser)" "" "0000711839" "00014465" "50" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000719825" "00014465" "50" "1979" "0" "1979" "0" "c.1979A>T" "r.(?)" "p.(Glu660Val)" "" "0000719826" "00014465" "50" "1978" "0" "1978" "0" "c.1978G>A" "r.(?)" "p.(Glu660Lys)" "" "0000719827" "00014465" "50" "1789" "0" "1789" "0" "c.1789T>A" "r.(?)" "p.(Phe597Ile)" "" "0000730017" "00014465" "90" "1689" "0" "1690" "0" "c.1689_1690del" "r.(?)" "p.(Met564Valfs*35)" "" "0000730018" "00014465" "90" "1689" "0" "1690" "0" "c.1689_1690del" "r.(?)" "p.(Met564Valfs*35)" "" "0000795507" "00014465" "70" "442" "0" "442" "0" "c.442G>T" "r.(?)" "p.(Gly148*)" "" "0000801572" "00014465" "50" "3437" "0" "3437" "0" "c.3437G>A" "r.(?)" "p.(Arg1146Lys)" "" "0000801573" "00014465" "30" "3411" "0" "3411" "0" "c.3411G>A" "r.(?)" "p.(Leu1137=)" "" "0000801574" "00014465" "50" "3140" "0" "3140" "0" "c.3140C>T" "r.(?)" "p.(Ser1047Leu)" "" "0000801575" "00014465" "30" "2588" "-4" "2588" "-4" "c.2588-4A>C" "r.spl?" "p.?" "" "0000801576" "00014465" "30" "2235" "0" "2235" "0" "c.2235T>G" "r.(?)" "p.(Asn745Lys)" "" "0000801577" "00014465" "70" "1430" "1" "1430" "1" "c.1430+1G>T" "r.spl?" "p.?" "" "0000801578" "00014465" "30" "1080" "4" "1080" "4" "c.1080+4T>C" "r.spl?" "p.?" "" "0000818871" "00014465" "90" "1618" "0" "1618" "0" "c.1618C>T" "r.(?)" "p.(Arg540*)" "19" "0000818872" "00014465" "90" "3107" "0" "3107" "0" "c.3107C>G" "r.(?)" "p.(Ser1036*)" "31" "0000818873" "00014465" "90" "3107" "0" "3107" "0" "c.3107C>G" "r.(?)" "p.(Ser1036*)" "31" "0000818874" "00014465" "90" "599" "0" "602" "0" "c.599_602del" "r.(?)" "p.(Lys200Metfs*8)" "9" "0000818875" "00014465" "90" "2886" "-1" "2886" "-1" "c.2886-1G>A" "r.spl?" "p.?" "29i" "0000818876" "00014465" "90" "1769" "0" "1770" "0" "c.1769_1770del" "r.(?)" "p.(Arg590Thrfs*9)" "21" "0000818877" "00014465" "90" "1868" "0" "1868" "0" "c.1868del" "r.(?)" "p.(Ser623Metfs*6)" "22" "0000818878" "00014465" "90" "3107" "0" "3107" "0" "c.3107C>G" "r.(?)" "p.(Ser1036*)" "31" "0000818879" "00014465" "90" "1226" "0" "1226" "0" "c.1226G>A" "r.(?)" "p.(Trp409*)" "16" "0000818880" "00014465" "90" "2814" "0" "2817" "0" "c.2814_2817del" "r.(?)" "p.(Asn938Lysfs*53)" "29" "0000818881" "00014465" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "7" "0000818882" "00014465" "90" "214" "1" "214" "1" "c.214+1G>A" "r.spl?" "p.?" "4i" "0000818883" "00014465" "90" "3107" "0" "3107" "0" "c.3107C>G" "r.(?)" "p.(Ser1036*)" "31" "0000818907" "00014465" "70" "1992" "0" "1992" "0" "c.1992del" "r.(?)" "p.(Val665Cysfs*34)" "23" "0000818908" "00014465" "70" "1992" "0" "1992" "0" "c.1992del" "r.(?)" "p.(Val665Cysfs*34)" "23" "0000818912" "00014465" "70" "1122" "0" "1122" "0" "c.1122A>C" "r.(?)" "p.(Glu374Asp)" "14" "0000850569" "00014465" "90" "3107" "0" "3107" "0" "c.3107C>G" "r.(?)" "p.(Ser1036*)" "" "0000850570" "00014465" "50" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742Cys)" "" "0000859290" "00014465" "30" "3329" "0" "3329" "0" "c.3329T>C" "r.(?)" "p.(Ile1110Thr)" "" "0000859291" "00014465" "30" "1666" "-17" "1666" "-17" "c.1666-17C>T" "r.(=)" "p.(=)" "" "0000859292" "00014465" "50" "1334" "0" "1334" "0" "c.1334A>G" "r.(?)" "p.(His445Arg)" "" "0000859293" "00014465" "30" "1080" "4" "1080" "4" "c.1080+4T>C" "r.spl?" "p.?" "" "0000859294" "00014465" "30" "1030" "0" "1030" "0" "c.1030A>G" "r.(?)" "p.(Thr344Ala)" "" "0000859295" "00014465" "50" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000859296" "00014465" "30" "642" "0" "642" "0" "c.642G>A" "r.(?)" "p.(Lys214=)" "" "0000859297" "00014465" "30" "-48" "-14" "-48" "-10" "c.-48-14_-48-10del" "r.(=)" "p.(=)" "" "0000886185" "00014465" "30" "2731" "0" "2731" "0" "c.2731C>G" "r.(?)" "p.(Gln911Glu)" "" "0000886186" "00014465" "50" "272" "0" "272" "0" "c.272G>A" "r.(?)" "p.(Arg91Gln)" "" "0000912079" "00014465" "30" "1081" "-8" "1081" "-8" "c.1081-8T>A" "r.(=)" "p.(=)" "" "0000912080" "00014465" "30" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Ala341Thr)" "" "0000912081" "00014465" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Ala341Thr)" "" "0000912082" "00014465" "90" "984" "0" "984" "0" "c.984del" "r.(?)" "p.(Lys328Asnfs*22)" "" "0000924082" "00014465" "30" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Ala341Thr)" "" "0000924083" "00014465" "70" "554" "0" "560" "0" "c.554_560del" "r.(?)" "p.(Asp185Glyfs*22)" "" "0000948286" "00014465" "50" "2726" "0" "2726" "0" "c.2726C>G" "r.(?)" "p.(Ser909Cys)" "" "0000948287" "00014465" "30" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261His)" "" "0000963065" "00014465" "50" "2687" "0" "2687" "0" "c.2687C>G" "r.(?)" "p.(Ser896Cys)" "" "0000976204" "00014465" "30" "3715" "-6" "3715" "-6" "c.3715-6G>C" "r.(=)" "p.(=)" "" "0000976205" "00014465" "70" "3588" "0" "3589" "0" "c.3588_3589insTA" "r.(?)" "p.(Ser1197*)" "" "0000976206" "00014465" "30" "2973" "0" "2973" "0" "c.2973A>C" "r.(?)" "p.(=)" "" "0000976207" "00014465" "30" "2940" "0" "2940" "0" "c.2940G>A" "r.(?)" "p.(Ser980=)" "" "0000976208" "00014465" "70" "2852" "0" "2852" "0" "c.2852G>A" "r.(?)" "p.(Trp951*)" "" "0000976209" "00014465" "70" "2007" "1" "2007" "1" "c.2007+1G>T" "r.spl?" "p.?" "" "0000994176" "00014465" "30" "2573" "0" "2573" "0" "c.2573C>A" "r.(?)" "p.(Thr858Lys)" "" "0000994177" "00014465" "50" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742Cys)" "" "0000994178" "00014465" "30" "1080" "20" "1080" "20" "c.1080+20G>A" "r.(=)" "p.(=)" "" "0001013944" "00014465" "30" "3567" "0" "3567" "0" "c.3567C>T" "r.(?)" "p.(=)" "" "0001034427" "00014465" "50" "2224" "0" "2224" "0" "c.2224C>T" "r.(?)" "p.(Arg742Cys)" "" "0001034428" "00014465" "30" "1750" "-5" "1750" "-5" "c.1750-5T>C" "r.spl?" "p.?" "" "0001034429" "00014465" "30" "1081" "-7" "1081" "-7" "c.1081-7dup" "r.(=)" "p.(=)" "" "0001034430" "00014465" "30" "464" "6" "464" "6" "c.464+6A>G" "r.(=)" "p.(=)" "" "0001034431" "00014465" "90" "379" "0" "379" "0" "c.379C>T" "r.(?)" "p.(Arg127*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000019886" "0000040357" "0000064428" "0000095831" "0000064428" "0000095832" "0000064429" "0000095833" "0000064429" "0000095834" "0000294746" "0000651435" "0000294747" "0000651436" "0000294748" "0000651437" "0000294749" "0000651438" "0000306117" "0000669805" "0000327304" "0000711023" "0000327313" "0000711030" "0000327314" "0000711031" "0000327315" "0000711032" "0000327316" "0000711033" "0000327722" "0000711515" "0000327723" "0000711516" "0000327724" "0000711517" "0000327876" "0000711669" "0000327877" "0000711670" "0000327878" "0000711671" "0000327879" "0000711672" "0000327880" "0000711673" "0000327881" "0000711674" "0000327882" "0000711675" "0000327883" "0000711676" "0000328010" "0000711837" "0000328011" "0000711838" "0000328013" "0000711839" "0000332735" "0000730017" "0000332736" "0000730018" "0000381931" "0000795507" "0000389673" "0000818871" "0000389673" "0000818872" "0000389674" "0000818873" "0000389674" "0000818874" "0000389675" "0000818875" "0000389675" "0000818876" "0000389676" "0000818877" "0000389676" "0000818878" "0000389677" "0000818879" "0000389677" "0000818880" "0000389678" "0000818881" "0000389679" "0000818882" "0000389679" "0000818883" "0000389702" "0000818907" "0000389703" "0000818908" "0000389705" "0000818912"