### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBA5) # 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}}" "UBA5" "ubiquitin-like modifier activating enzyme 5" "3" "q22" "unknown" "NG_052968.1" "UD_136065186371" "" "https://www.LOVD.nl/UBA5" "" "1" "23230" "79876" "610552" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-08-21 08:22:07" "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}}" "00022212" "UBA5" "transcript variant 1" "002" "NM_024818.3" "" "NP_079094.1" "" "" "" "-242" "2789" "1215" "132379140" "132396944" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "00787" "-" "encephalopathy, neonatal, severe" "XLR" "300673" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05394" "EIEE44" "encephalopathy, epileptic, early infantile, type 44 (EIEE44)" "AR" "617132" "" "autosomal recessive" "" "00006" "2018-02-02 17:41:27" "00006" "2020-11-27 15:26:19" "05395" "SCAR24" "ataxia, spinocerebellar, autosomal recessive, type 24 (SCAR24)" "AR" "617133" "" "autosomal recessive" "" "00006" "2018-02-02 17:43:26" "00006" "2020-11-27 15:26:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "UBA5" "05394" "UBA5" "05395" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{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}}" "00152004" "" "" "" "1" "" "00059" "{PMID:Mignon-Ravix 2018:28965491}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "France" "00y00m16d" "0" "" "" "" "13864" "00179423" "" "" "" "2" "" "00006" "{PMID:Colin 2016:27829678}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "F;M" "no" "Finland" "" "0" "" "" "" "27829678-FamA" "00179424" "" "" "" "3" "" "00006" "{PMID:Colin 2016:27829678}" "2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "no" "Finland" "" "0" "" "" "" "27829679-FamB" "00179425" "" "" "" "1" "" "00006" "{PMID:Colin 2016:27829678}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "27829680-FamC" "00179426" "" "" "" "1" "" "00006" "{PMID:Colin 2016:27829678}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Northern Ireland;Romania" "" "0" "" "" "" "27829681-FamD" "00179427" "" "" "" "1" "" "00006" "{PMID:Colin 2016:27829678}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Finland" "" "0" "" "" "" "27829682-FamE" "00179428" "" "" "" "2" "" "00006" "{PMID:Muona 2016:27545674}" "2-generation family, affected brothers, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "27545674-FamA" "00179429" "" "" "" "1" "" "00006" "{PMID:Muona 2016:27545674}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" "27545675-FamB" "00179430" "" "" "" "1" "" "00006" "{PMID:Muona 2016:27545674}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "27545676-FamC" "00179431" "" "" "" "1" "" "00006" "{PMID:Muona 2016:27545674}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Kuwait" "" "0" "" "" "" "27545677-FamD" "00179432" "" "" "" "2" "" "00006" "{PMID:Arnadottir 2017:28965491}" "2-generation family, affected sisters, unaffected heterozygous carrier parents/relatives" "F" "no" "Iceland" "" "0" "" "" "" "28965491-Fam" "00179433" "" "" "" "1" "" "00006" "{PMID:Arnadottir 2017:28965491}" "" "F" "" "Iceland" "" "0" "" "" "" "28965491-IndA" "00179434" "" "" "" "1" "" "00006" "{PMID:Arnadottir 2017:28965491}" "" "M" "" "Iceland" "" "0" "" "" "" "28965491-IndB" "00179435" "" "" "" "1" "" "00006" "{PMID:Arnadottir 2017:28965491}" "" "F" "" "Iceland" "" "0" "" "" "" "28965491-IndC" "00179436" "" "" "" "1" "" "00006" "{PMID:Colin 2016:27829678}" "" "" "" "Finland" "" "0" "" "" "" "27829678-IndA" "00179437" "" "" "" "1" "" "00006" "{PMID:Duan 2016:26872069}" "2-generation family, affected sister brother, unaffected heterozygous carrier parents" "F;M" "no" "China" "" "0" "" "" "" "26872069-Fam" "00180186" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents" "F;M" "no" "(Slovenia)" "" "0" "" "" "" "29286531-Pat38" "00320357" "" "" "" "5" "" "00006" "{PMID:Cabrera-Serrano 2020: 32179706}" "5-generation family, 5 affected (3F, 2M)" "M" "yes" "Australia" "21d" "0" "" "" "Lebenon" "FamPatIV9" "00320358" "" "" "00320357" "1" "" "00006" "{PMID:Cabrera-Serrano 2020: 32179706}" "" "M" "yes" "Australia" "56d" "0" "" "" "Lebenon" "FamPaV2" "00320359" "" "" "00320357" "1" "" "00006" "{PMID:Cabrera-Serrano 2020: 32179706}" "" "F" "yes" "Australia" "63d" "0" "" "" "Lebenon" "FamPaV4" "00320360" "" "" "00320357" "1" "" "00006" "{PMID:Cabrera-Serrano 2020: 32179706}" "" "F" "yes" "Australia" "4m" "0" "" "" "Lebenon" "FamPaV7" "00320361" "" "" "00320357" "1" "" "00006" "{PMID:Cabrera-Serrano 2020: 32179706}" "" "F" "yes" "Australia" "70d" "0" "" "" "Lebenon" "FamPaV8" "00392037" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "159P" "00438346" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat64" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 25 "{{individualid}}" "{{diseaseid}}" "00152004" "00787" "00179423" "00344" "00179424" "00344" "00179425" "00344" "00179426" "00344" "00179427" "00344" "00179428" "00344" "00179429" "00344" "00179430" "00344" "00179431" "00344" "00179432" "00344" "00179433" "00198" "00179434" "00198" "00179435" "00198" "00179436" "00000" "00179437" "04201" "00180186" "00198" "00320357" "00198" "00320358" "00198" "00320359" "00198" "00320360" "00198" "00320361" "00198" "00392037" "05394" "00392037" "05395" "00438346" "04270" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00344, 00787, 04201, 04270, 05394, 05395 ## Count = 23 "{{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}}" "0000141909" "00787" "00152004" "00059" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Aicardi syndrome (early myoclonic epilepsy)" "" "0000141910" "00344" "00179423" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "EIEE-44" "severe infantile-onset encephalopathy" "" "0000141911" "00344" "00179424" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "EIEE-44" "severe infantile-onset encephalopathy" "" "0000141912" "00344" "00179425" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "EIEE-44" "severe infantile-onset encephalopathy" "" "0000141913" "00344" "00179426" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "EIEE-44" "severe infantile-onset encephalopathy" "" "0000141914" "00344" "00179427" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "EIEE-44" "severe infantile-onset encephalopathy" "" "0000141915" "00344" "00179428" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "EIEE-44" "early-onset encephalopathy" "" "0000141916" "00344" "00179429" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "EIEE-44" "early-onset encephalopathy" "" "0000141917" "00344" "00179430" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "EIEE-44" "early-onset encephalopathy" "" "0000141918" "00344" "00179431" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "EIEE-44" "early-onset encephalopathy" "" "0000141919" "00344" "00179432" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "early-onset epileptic encephalopathy" "" "0000141920" "00198" "00179433" "00006" "Unknown" "83y" "coronary artery disease, essential hypertension, osteoarthritis" "" "" "" "" "" "" "" "" "" "" "" "0000141921" "00198" "00179434" "00006" "Unknown" "71y" "myocardial infarction" "" "" "" "" "" "" "" "" "" "" "" "0000141922" "00198" "00179435" "00006" "Unknown" "77y" "coronary artery disease, ulcerative colitis" "" "" "" "" "" "" "" "" "" "" "" "0000141923" "00000" "00179436" "00006" "Unknown" "50y-60y" "free from any neurological disorder" "" "" "" "" "" "" "" "" "" "" "" "0000141924" "04201" "00179437" "00006" "Familial, autosomal recessive" "" "see paper; ..., gait instability, speech difficulties, gait and limb ataxia, dysarthria, horizontal nystagmus, cataract; EMG normal" "" "" "" "" "" "" "" "" "" "cerebellar ataxia" "" "0000142640" "00198" "00180186" "00006" "Familial, autosomal recessive" "" "Epilepsy (HP:0001250), epileptic spasms (West syndrome) (HP:0011097), myoclonic seizures (HP:0002123), global developmental delay (HP:0001263), facial dysmorphism: coarse facial features (HP:0000280), inguinal hernia (HP:0000023), umbilical hernia (HP:0001537), macroglossia (HP:0000158), gingival hyperplasia (HP:0000212), high palate (HP:0002705), hoarse voice (HP:0001609), opisthotonos (HP:0002179), increased muscle tone (HP:0001276), resting tremor (HP:0002322), neurodegeneration (HP:0002180)" "" "" "" "" "" "" "" "" "lack of data, just one familial case described." "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000242370" "00198" "00320357" "00006" "Familial, autosomal recessive" "21d" "died 3w; hypotonia; feeding difficulties; tongue fasciculations" "" "" "" "" "" "" "" "" "" "congenital neuropathy" "" "0000242371" "00198" "00320358" "00006" "Familial, autosomal recessive" "56d" "birth 40w; died 8w; no polyhydramnios; reduced fetal movements; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; head lag; facial weakness; feeding difficulties; MRI brain/spine 3w-normal" "" "" "" "" "" "" "" "" "" "congenital neuropathy" "" "0000242372" "00198" "00320359" "00006" "Familial, autosomal recessive" "63d" "; died 9w; no polyhydramnios; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; distal weakness/reduced grasp; feeding difficulties; tongue fasciculations" "" "" "" "" "" "" "" "" "" "congenital neuropathy" "" "0000242373" "00198" "00320360" "00006" "Familial, autosomal recessive" "4m" "birth 33w; died 16w; polyhydramnios; reduced fetal movements; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; head lag; facial weakness; feeding difficulties; tongue fasciculations; MRI brain/spine 2m-normal" "" "" "" "" "" "" "" "" "" "congenital neuropathy" "" "0000242374" "00198" "00320361" "00006" "Familial, autosomal recessive" "70d" "birth 37w; died 10w; no polyhydramnios; no reduced fetal movements; soft cry; foot deformities; ankle/knee contractures at birth; areflexia; hypotonia; distal weakness/reduced grasp; head lag; facial weakness; feeding difficulties" "" "" "" "" "" "" "" "" "" "congenital neuropathy" "" "0000328250" "04270" "00438346" "00006" "Familial, autosomal recessive" "" "HP:0001250 seizures; HP:0012469 infantile spasms; HP:0001250 seizures; HP:0012430 cerebral white matter hypoplasia; HP:0002353 eeg abnormality" "3m" "" "" "" "" "" "" "" "" "epilepsy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000152859" "00152004" "1" "00059" "00059" "2018-01-31 09:25:35" "00006" "2018-08-21 21:50:59" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "Blood" "" "0000180326" "00179423" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000180327" "00179424" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180328" "00179425" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180329" "00179426" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180330" "00179427" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000180331" "00179428" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180332" "00179429" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180333" "00179430" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180334" "00179431" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180335" "00179432" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180336" "00179433" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180337" "00179434" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180338" "00179435" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180339" "00179436" "1" "00006" "00006" "2018-08-21 21:59:57" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000180340" "00179437" "1" "00006" "00006" "2018-08-21 22:10:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000181089" "00180186" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000321543" "00320357" "1" "00006" "00006" "2020-11-27 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321544" "00320358" "1" "00006" "00006" "2020-11-27 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321545" "00320359" "1" "00006" "00006" "2020-11-27 15:59:18" "" "" "SEQ" "DNA" "" "" "0000321546" "00320360" "1" "00006" "00006" "2020-11-27 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000321547" "00320361" "1" "00006" "00006" "2020-11-27 15:59:18" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000393279" "00392037" "1" "02494" "02494" "2021-11-19 16:46:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000439828" "00438346" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000152859" "UBA5" "0000180326" "UBA5" "0000180327" "UBA5" "0000180328" "UBA5" "0000180329" "UBA5" "0000180330" "UBA5" "0000180331" "UBA5" "0000180332" "UBA5" "0000180333" "UBA5" "0000180334" "UBA5" "0000180335" "UBA5" "0000180336" "UBA5" "0000180337" "UBA5" "0000180338" "UBA5" "0000180339" "UBA5" "0000180340" "UBA5" "0000181089" "UBA5" "0000321543" "ACAD11" "0000321543" "PPP2R3A" "0000321543" "UBA5" "0000321544" "ACAD11" "0000321544" "PPP2R3A" "0000321544" "UBA5" "0000321545" "ACAD11" "0000321545" "PPP2R3A" "0000321545" "UBA5" "0000321546" "ACAD11" "0000321546" "PPP2R3A" "0000321546" "UBA5" "0000321547" "ACAD11" "0000321547" "PPP2R3A" "0000321547" "UBA5" ## 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 = 229 "{{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}}" "0000246153" "0" "10" "3" "132401676" "132401676" "del" "0" "02330" "NPHP3_000007" "g.132401676del" "" "" "" "NPHP3(NM_153240.5):c.3697-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132682832del" "" "benign" "" "0000246154" "0" "10" "3" "132406082" "132406082" "del" "0" "02330" "NPHP3_000013" "g.132406082del" "" "" "" "NPHP3(NM_153240.5):c.3126-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132687238del" "" "benign" "" "0000246177" "0" "30" "3" "132423229" "132423229" "subst" "0" "02330" "NPHP3_000034" "g.132423229A>C" "" "" "" "NPHP3(NM_153240.5):c.1351-14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132704385A>C" "" "likely benign" "" "0000251298" "0" "10" "3" "132420390" "132420390" "del" "0" "02326" "NPHP3_000033" "g.132420390del" "" "" "" "NPHP3(NM_153240.5):c.1525-5delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132701546del" "" "benign" "" "0000253768" "0" "10" "3" "132409501" "132409501" "subst" "0.0304515" "01943" "NPHP3_000023" "g.132409501A>G" "" "" "" "NPHP3(NM_153240.4):c.2571-7T>C, NPHP3(NM_153240.5):c.2571-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132690657A>G" "" "benign" "" "0000253769" "0" "10" "3" "132434071" "132434071" "subst" "4.0658E-6" "01943" "NPHP3_000039" "g.132434071A>G" "" "" "" "NPHP3(NM_153240.4):c.824-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132715227A>G" "" "benign" "" "0000255073" "0" "30" "3" "132434022" "132434022" "subst" "0.0042252" "01943" "NPHP3_000038" "g.132434022A>T" "" "" "" "NPHP3(NM_153240.4):c.864T>A (p.T288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132715178A>T" "" "likely benign" "" "0000255215" "0" "30" "3" "132424576" "132424576" "subst" "0" "01943" "NPHP3_000035" "g.132424576A>G" "" "" "" "NPHP3(NM_153240.4):c.1350+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132705732A>G" "" "likely benign" "" "0000255216" "0" "30" "3" "132437832" "132437832" "subst" "2.43748E-5" "01943" "NPHP3_000041" "g.132437832A>G" "" "" "" "NPHP3(NM_153240.4):c.670+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132718988A>G" "" "likely benign" "" "0000255851" "0" "50" "3" "132441118" "132441118" "subst" "0" "01943" "NPHP3_000048" "g.132441118A>G" "" "" "" "NPHP3(NM_153240.4):c.82T>C (p.C28R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132722274A>G" "" "VUS" "" "0000293190" "0" "10" "3" "132441095" "132441095" "subst" "0.00163522" "02330" "NPHP3_000047" "g.132441095C>T" "" "" "" "NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132722251C>T" "" "benign" "" "0000293191" "0" "10" "3" "132418756" "132418756" "subst" "0.00153636" "02330" "NPHP3_000029" "g.132418756C>T" "" "" "" "NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132699912C>T" "" "benign" "" "0000293192" "0" "10" "3" "132415614" "132415614" "subst" "0.000730941" "02330" "NPHP3_000026" "g.132415614T>C" "" "" "" "NPHP3(NM_153240.5):c.2132A>G (p.N711S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132696770T>C" "" "benign" "" "0000293193" "0" "50" "3" "132440967" "132440967" "subst" "5.52017E-5" "02330" "NPHP3_000046" "g.132440967C>A" "" "" "" "NPHP3(NM_153240.5):c.233G>T (p.G78V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132722123C>A" "" "VUS" "" "0000293194" "0" "10" "3" "132407682" "132407682" "subst" "1.22096E-5" "02330" "NPHP3_000016" "g.132407682G>A" "" "" "" "NPHP3(NM_153240.5):c.2937C>T (p.P979=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132688838G>A" "" "benign" "" "0000293195" "0" "50" "3" "132401603" "132401603" "subst" "0.000690945" "02330" "NPHP3_000003" "g.132401603G>C" "" "" "" "NPHP3(NM_153240.4):c.3756C>G (p.S1252R), NPHP3(NM_153240.5):c.3756C>G (p.S1252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132682759G>C" "" "VUS" "" "0000293196" "0" "30" "3" "132400806" "132400806" "subst" "0.00153574" "02330" "NPHP3_000004" "g.132400806C>G" "" "" "" "NPHP3(NM_153240.4):c.3941G>C (p.S1314T, p.(Ser1314Thr)), NPHP3(NM_153240.5):c.3941G>C (p.S1314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681962C>G" "" "likely benign" "" "0000298749" "0" "90" "3" "132408108" "132408109" "del" "0.000276299" "02329" "NPHP3_000020" "g.132408108_132408109del" "" "" "" "NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132689264_132689265del" "" "pathogenic" "" "0000300344" "0" "10" "3" "132441268" "132441268" "subst" "0" "02326" "NPHP3_000049" "g.132441268T>C" "" "" "" "NPHP3(NM_153240.5):c.-69A>G, NPHP3-ACAD11(NR_037804.1):n.36A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132722424T>C" "" "benign" "" "0000300345" "0" "10" "3" "132441046" "132441046" "subst" "0.0136813" "02326" "NPHP3_000001" "g.132441046C>T" "" "" "" "NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132722202C>T" "" "benign" "" "0000300346" "0" "10" "3" "132416206" "132416206" "subst" "0.00321666" "02326" "NPHP3_000028" "g.132416206C>T" "" "" "" "NPHP3(NM_153240.5):c.1986G>A (p.R662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132697362C>T" "" "benign" "" "0000300347" "0" "90" "3" "132407950" "132407950" "subst" "1.62614E-5" "02326" "NPHP3_000017" "g.132407950G>A" "" "" "" "NPHP3(NM_153240.5):c.2851C>T (p.R951*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132689106G>A" "" "pathogenic" "" "0000300348" "0" "10" "3" "132401600" "132401600" "subst" "0.160091" "02326" "NPHP3_000006" "g.132401600C>T" "" "" "" "NPHP3(NM_153240.4):c.3759G>A (p.L1253=), NPHP3(NM_153240.5):c.3759G>A (p.L1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132682756C>T" "" "benign" "" "0000300349" "0" "10" "3" "132400834" "132400834" "subst" "0.00392107" "02326" "NPHP3_000005" "g.132400834G>A" "" "" "" "NPHP3(NM_153240.5):c.3913C>T (p.R1305C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681990G>A" "" "benign" "" "0000300350" "0" "10" "3" "132438762" "132438763" "del" "0" "02326" "NPHP3_000045" "g.132438762_132438763del" "" "" "" "NPHP3(NM_153240.5):c.394-75_394-74delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132719918_132719919del" "" "benign" "" "0000300351" "0" "30" "3" "132438619" "132438619" "subst" "0.00161205" "02326" "NPHP3_000044" "g.132438619G>A" "" "" "" "NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132719775G>A" "" "likely benign" "" "0000300352" "0" "10" "3" "132436909" "132436909" "del" "0" "02326" "NPHP3_000040" "g.132436909del" "" "" "" "NPHP3(NM_153240.5):c.670+936delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132718065del" "" "benign" "" "0000304438" "0" "50" "3" "132432079" "132432079" "subst" "4.17707E-6" "01943" "NPHP3_000037" "g.132432079G>A" "" "" "" "NPHP3(NM_153240.4):c.1009C>T (p.H337Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132713235G>A" "" "VUS" "" "0000304439" "0" "30" "3" "132441095" "132441095" "subst" "0.00163522" "01943" "NPHP3_000047" "g.132441095C>T" "" "" "" "NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132722251C>T" "" "likely benign" "" "0000304440" "0" "50" "3" "132427030" "132427030" "subst" "0.000117801" "01943" "NPHP3_000036" "g.132427030C>T" "" "" "" "NPHP3(NM_153240.4):c.1190G>A (p.R397H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132708186C>T" "" "VUS" "" "0000304442" "0" "30" "3" "132441046" "132441046" "subst" "0.0136813" "01943" "NPHP3_000001" "g.132441046C>T" "" "" "" "NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132722202C>T" "" "likely benign" "" "0000304443" "0" "30" "3" "132418756" "132418756" "subst" "0.00153636" "01943" "NPHP3_000029" "g.132418756C>T" "" "" "" "NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132699912C>T" "" "likely benign" "" "0000304444" "0" "30" "3" "132415666" "132415666" "subst" "0.00438418" "01943" "NPHP3_000027" "g.132415666G>A" "" "" "" "NPHP3(NM_153240.4):c.2089-9C>T, NPHP3(NM_153240.5):c.2089-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132696822G>A" "" "likely benign" "" "0000304445" "0" "30" "3" "132410062" "132410062" "subst" "0" "01943" "NPHP3_000024" "g.132410062T>G" "" "" "" "NPHP3(NM_153240.4):c.2544A>C (p.L848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132691218T>G" "" "likely benign" "" "0000304446" "0" "30" "3" "132409458" "132409458" "subst" "0" "01943" "NPHP3_000022" "g.132409458G>A" "" "" "" "NPHP3(NM_153240.4):c.2607C>T (p.L869=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132690614G>A" "" "likely benign" "" "0000304447" "0" "10" "3" "132409355" "132409355" "subst" "0.00246474" "01943" "NPHP3_000021" "g.132409355T>C" "" "" "" "NPHP3(NM_153240.4):c.2693+17A>G, NPHP3(NM_153240.5):c.2693+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132690511T>C" "" "benign" "" "0000304448" "0" "30" "3" "132408032" "132408032" "subst" "0.000796172" "01943" "NPHP3_000019" "g.132408032G>A" "" "" "" "NPHP3(NM_153240.4):c.2769C>T (p.F923=), NPHP3(NM_153240.5):c.2769C>T (p.F923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132689188G>A" "" "likely benign" "" "0000304449" "0" "50" "3" "132407992" "132407992" "subst" "4.06296E-6" "01943" "NPHP3_000018" "g.132407992C>A" "" "" "" "NPHP3(NM_153240.4):c.2809G>T (p.D937Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132689148C>A" "" "VUS" "" "0000304450" "0" "50" "3" "132407633" "132407633" "subst" "0.000138287" "01943" "NPHP3_000015" "g.132407633C>T" "" "" "" "NPHP3(NM_153240.4):c.2986G>A (p.V996M, p.(Val996Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132688789C>T" "" "VUS" "" "0000304452" "0" "50" "3" "132405212" "132405212" "subst" "0.000548263" "01943" "NPHP3_000012" "g.132405212C>T" "" "" "" "NPHP3(NM_153240.4):c.3221G>A (p.R1074H, p.(Arg1074His)), NPHP3(NM_153240.5):c.3221G>A (p.R1074H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132686368C>T" "" "VUS" "" "0000304453" "0" "50" "3" "132405204" "132405204" "subst" "4.06105E-6" "01943" "NPHP3_000011" "g.132405204C>T" "" "" "" "NPHP3(NM_153240.4):c.3229G>A (p.A1077T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132686360C>T" "" "VUS" "" "0000304454" "0" "30" "3" "132405181" "132405181" "subst" "0.00149037" "01943" "NPHP3_000010" "g.132405181T>C" "" "" "" "NPHP3(NM_153240.4):c.3252A>G (p.T1084=), NPHP3(NM_153240.5):c.3252A>G (p.T1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132686337T>C" "" "likely benign" "" "0000304455" "0" "50" "3" "132403464" "132403464" "subst" "0.000195112" "01943" "NPHP3_000008" "g.132403464T>C" "" "" "" "NPHP3(NM_153240.4):c.3504A>G (p.A1168=), NPHP3(NM_153240.5):c.3504A>G (p.A1168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132684620T>C" "" "VUS" "" "0000304456" "0" "50" "3" "132401603" "132401603" "subst" "0.000690945" "01943" "NPHP3_000003" "g.132401603G>C" "" "" "" "NPHP3(NM_153240.4):c.3756C>G (p.S1252R), NPHP3(NM_153240.5):c.3756C>G (p.S1252R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132682759G>C" "" "VUS" "" "0000304457" "0" "10" "3" "132401600" "132401600" "subst" "0.160091" "01943" "NPHP3_000006" "g.132401600C>T" "" "" "" "NPHP3(NM_153240.4):c.3759G>A (p.L1253=), NPHP3(NM_153240.5):c.3759G>A (p.L1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132682756C>T" "" "benign" "" "0000304458" "0" "30" "3" "132400806" "132400806" "subst" "0.00153574" "01943" "NPHP3_000004" "g.132400806C>G" "" "" "" "NPHP3(NM_153240.4):c.3941G>C (p.S1314T, p.(Ser1314Thr)), NPHP3(NM_153240.5):c.3941G>C (p.S1314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681962C>G" "" "likely benign" "" "0000304459" "0" "30" "3" "132438619" "132438619" "subst" "0.00161205" "01943" "NPHP3_000044" "g.132438619G>A" "" "" "" "NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132719775G>A" "" "likely benign" "" "0000304460" "0" "10" "3" "132438618" "132438618" "subst" "0.00335888" "01943" "NPHP3_000043" "g.132438618C>T" "" "" "" "NPHP3(NM_153240.4):c.450G>A (p.A150=), NPHP3(NM_153240.5):c.450G>A (p.A150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132719774C>T" "" "benign" "" "0000304461" "0" "30" "3" "132437887" "132437887" "subst" "2.8428E-5" "01943" "NPHP3_000042" "g.132437887T>C" "" "" "" "NPHP3(NM_153240.4):c.621A>G (p.V207=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132719043T>C" "" "likely benign" "" "0000329606" "0" "50" "3" "132338334" "132338334" "subst" "0.00124624" "01804" "ACAD11_000001" "g.132338334G>C" "" "" "" "ACAD11(NM_032169.4):c.1253C>G (p.(Pro418Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132619490G>C" "" "VUS" "" "0000329607" "0" "50" "3" "132405152" "132405152" "subst" "0.000491379" "01804" "NPHP3_000009" "g.132405152C>T" "" "" "" "NPHP3(NM_153240.5):c.3281G>A (p.(Arg1094Gln), p.R1094Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132686308C>T" "" "VUS" "" "0000329608" "0" "30" "3" "132405212" "132405212" "subst" "0.000548263" "01804" "NPHP3_000012" "g.132405212C>T" "" "" "" "NPHP3(NM_153240.4):c.3221G>A (p.R1074H, p.(Arg1074His)), NPHP3(NM_153240.5):c.3221G>A (p.R1074H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132686368C>T" "" "likely benign" "" "0000329611" "0" "50" "3" "132418855" "132418855" "subst" "8.12275E-6" "01804" "NPHP3_000031" "g.132418855C>G" "" "" "" "NPHP3(NM_153240.4):c.1794G>C (p.(Lys598Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132700011C>G" "" "VUS" "" "0000337140" "0" "90" "3" "132401545" "132401545" "dup" "0" "02327" "NPHP3_000051" "g.132401545dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132682701dup" "" "pathogenic" "" "0000339397" "0" "10" "3" "132405181" "132405181" "subst" "0.00149037" "02327" "NPHP3_000010" "g.132405181T>C" "" "" "" "NPHP3(NM_153240.4):c.3252A>G (p.T1084=), NPHP3(NM_153240.5):c.3252A>G (p.T1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132686337T>C" "" "benign" "" "0000340831" "0" "10" "3" "132401600" "132401600" "subst" "0.160091" "02327" "NPHP3_000006" "g.132401600C>T" "" "" "" "NPHP3(NM_153240.4):c.3759G>A (p.L1253=), NPHP3(NM_153240.5):c.3759G>A (p.L1253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132682756C>T" "" "benign" "" "0000344507" "0" "90" "3" "132403562" "132403562" "subst" "0" "02327" "NPHP3_000053" "g.132403562G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132684718G>A" "" "pathogenic" "" "0000344541" "0" "50" "3" "132400762" "132400762" "subst" "0" "02327" "NPHP3_000050" "g.132400762G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132681918G>T" "" "VUS" "" "0000348147" "0" "50" "3" "132403447" "132403447" "subst" "0" "02327" "NPHP3_000052" "g.132403447G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132684603G>A" "" "VUS" "" "0000349202" "0" "50" "3" "132409390" "132409390" "subst" "0" "02327" "NPHP3_000055" "g.132409390G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132690546G>A" "" "VUS" "" "0000349663" "0" "50" "3" "132407696" "132407696" "subst" "0" "02327" "NPHP3_000054" "g.132407696T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132688852T>C" "" "VUS" "" "0000350887" "0" "90" "3" "132408108" "132408109" "del" "0.000276299" "02327" "NPHP3_000020" "g.132408108_132408109del" "" "" "" "NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132689264_132689265del" "" "pathogenic" "" "0000351703" "3" "90" "3" "132379539" "132379539" "subst" "0" "00059" "UBA5_000001" "g.132379539A>T" "" "{PMID:Mignon-Ravix 2018:28965491}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132660695A>T" "" "pathogenic (recessive)" "" "0000403789" "21" "90" "3" "132384669" "132384669" "subst" "4.0664E-6" "00006" "UBA5_000004" "g.132384669G>A" "" "{PMID:Colin 2016:27829678}" "" "" "strongly reduced expression of allele" "Germline" "yes" "" "0" "" "" "g.132665825G>A" "" "pathogenic (recessive)" "" "0000403790" "21" "90" "3" "132394134" "132394134" "subst" "0" "00006" "UBA5_000011" "g.132394134C>A" "" "{PMID:Colin 2016:27829678}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132675290C>A" "" "pathogenic (recessive)" "" "0000403791" "11" "90" "3" "132389876" "132389876" "subst" "0" "00006" "UBA5_000008" "g.132389876C>T" "" "{PMID:Colin 2016:27829678}" "" "" "" "Germline" "yes" "rs374052333" "0" "" "" "g.132671032C>T" "" "pathogenic (recessive)" "" "0000403792" "21" "90" "3" "132384686" "132384686" "subst" "0" "00006" "UBA5_000006" "g.132384686C>T" "" "{PMID:Colin 2016:27829678}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132665842C>T" "" "pathogenic (recessive)" "" "0000403793" "21" "90" "3" "132389876" "132389876" "subst" "0" "00006" "UBA5_000008" "g.132389876C>T" "" "{PMID:Colin 2016:27829678}" "" "" "" "Germline" "yes" "rs374052333" "0" "" "" "g.132671032C>T" "" "pathogenic (recessive)" "" "0000403794" "11" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Colin 2016:27829678}" "" "" "variant pathogenic (recessive) but homozygous benign" "Germline" "yes" "rs114925667" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403795" "11" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Colin 2016:27829678}" "" "" "variant pathogenic (recessive) but homozygous benign" "Germline" "yes" "rs114925667" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403796" "21" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Colin 2016:27829678}" "" "" "variant pathogenic (recessive) but homozygous benign" "Germline" "yes" "rs114925667" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403797" "11" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Colin 2016:27829678}" "" "" "variant pathogenic (recessive) but homozygous benign" "Germline" "yes" "rs114925667" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403798" "11" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Colin 2016:27829678}" "" "" "variant pathogenic (recessive) but homozygous benign" "Germline" "yes" "rs114925667" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403799" "11" "90" "3" "132394183" "132394183" "subst" "0" "00006" "UBA5_000012" "g.132394183C>T" "" "{PMID:Muona 2016:27545674}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132675339C>T" "" "pathogenic (recessive)" "" "0000403800" "11" "90" "3" "132394471" "132394472" "ins" "0" "00006" "UBA5_000013" "g.132394471_132394472insC" "" "{PMID:Muona 2016:27545674}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132675627_132675628insC" "" "pathogenic (recessive)" "" "0000403801" "11" "90" "3" "132390987" "132390987" "subst" "4.06971E-6" "00006" "UBA5_000010" "g.132390987G>A" "" "{PMID:Muona 2016:27545674}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132672143G>A" "" "pathogenic (recessive)" "" "0000403802" "11" "90" "3" "132384674" "132384674" "subst" "0" "00006" "UBA5_000005" "g.132384674A>C" "" "{PMID:Muona 2016:27545674}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132665830A>C" "" "pathogenic (recessive)" "" "0000403803" "21" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Muona 2016:27545674}" "" "" "variant pathogenic (recessive) but homozygous benign" "Germline" "yes" "" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403804" "21" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Muona 2016:27545674}" "" "" "variant pathogenic (recessive) but homozygous benign" "Germline" "yes" "" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403805" "21" "90" "3" "132395320" "132395320" "subst" "0" "00006" "UBA5_000015" "g.132395320G>T" "" "{PMID:Muona 2016:27545674}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132676476G>T" "" "pathogenic (recessive)" "" "0000403806" "21" "90" "3" "132389817" "132389817" "subst" "0" "00006" "UBA5_000007" "g.132389817G>A" "" "{PMID:Muona 2016:27545674}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132670973G>A" "" "pathogenic (recessive)" "" "0000403807" "21" "90" "3" "132390725" "132390725" "subst" "4.09621E-6" "00006" "UBA5_000009" "g.132390725G>A" "" "{PMID:Arnadottir 2017:28965491}" "" "" "" "Germline" "yes" "" "0" "" "" "g.132671881G>A" "" "pathogenic (recessive)" "" "0000403808" "11" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Arnadottir 2017:28965491}" "" "" "variant pathogenic (recessive) but homozygous benign" "Germline" "yes" "" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403809" "3" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Arnadottir 2017:28965491}" "" "" "NOTE: variant benign in homozygous state" "Germline" "" "" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403810" "3" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Arnadottir 2017:28965491}" "" "" "NOTE: variant benign in homozygous state" "Germline" "" "" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403811" "3" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Arnadottir 2017:28965491}" "" "" "NOTE: variant benign in homozygous state" "Germline" "" "" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403812" "3" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Arnadottir 2017:28965491}" "" "" "NOTE: variant benign in homozygous state" "Germline" "" "" "0" "" "" "g.132675903G>A" "" "pathogenic (!)" "" "0000403813" "1" "90" "3" "132390945" "132390945" "subst" "1.62703E-5" "00006" "UBA5_000002" "g.132390945C>T" "" "{PMID:Duan 2016:26872069}" "" "NM_198329.2:c.568C>T" "" "Germline" "yes" "" "0" "" "" "g.132672101C>T" "" "pathogenic (recessive)" "" "0000403814" "2" "90" "3" "132394207" "132394207" "subst" "0" "00006" "UBA5_000003" "g.132394207A>G" "" "{PMID:Duan 2016:26872069}" "" "NM_198329.2:c.760A>G" "" "Germline" "yes" "" "0" "" "" "g.132675363A>G" "" "pathogenic (recessive)" "" "0000404725" "11" "90" "3" "132384669" "132384669" "subst" "4.0664E-6" "00006" "UBA5_000004" "g.132384669G>A" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.132665825G>A" "" "pathogenic" "ACMG" "0000404740" "21" "90" "3" "132394747" "132394747" "subst" "0.00189745" "00006" "UBA5_000014" "g.132394747G>A" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.132675903G>A" "" "pathogenic" "ACMG" "0000517944" "0" "50" "3" "132379401" "132379401" "subst" "0.000318571" "01943" "ACAD11_000002" "g.132379401G>A" "" "" "" "UBA5(NM_024818.4):c.20G>A (p.R7H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132660557G>A" "" "VUS" "" "0000517945" "0" "50" "3" "132379503" "132379503" "subst" "5.50285E-6" "01943" "ACAD11_000003" "g.132379503A>G" "" "" "" "UBA5(NM_024818.4):c.122A>G (p.E41G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132660659A>G" "" "VUS" "" "0000517946" "0" "30" "3" "132379880" "132379880" "subst" "0.000293092" "02326" "ACAD11_000004" "g.132379880T>A" "" "" "" "UBA5(NM_001321238.1):c.15T>A (p.I5=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132661036T>A" "" "likely benign" "" "0000517947" "0" "30" "3" "132384704" "132384704" "subst" "0.000182955" "01943" "ACAD11_000005" "g.132384704G>A" "" "" "" "UBA5(NM_024818.4):c.199G>A (p.D67N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132665860G>A" "" "likely benign" "" "0000517948" "0" "30" "3" "132394218" "132394218" "subst" "0.00032555" "02326" "ACAD11_000006" "g.132394218G>A" "" "" "" "UBA5(NM_024818.5):c.939G>A (p.E313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132675374G>A" "" "likely benign" "" "0000517949" "0" "90" "3" "132394747" "132394747" "subst" "0.00189745" "01804" "UBA5_000014" "g.132394747G>A" "" "" "" "UBA5(NM_024818.3):c.1111G>A (p.(Ala371Thr)), UBA5(NM_024818.4):c.1111G>A (p.A371T), UBA5(NM_024818.5):c.1111G>A (p.A371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132675903G>A" "" "pathogenic" "" "0000517951" "0" "30" "3" "132400806" "132400806" "subst" "0.00153574" "01804" "NPHP3_000004" "g.132400806C>G" "" "" "" "NPHP3(NM_153240.4):c.3941G>C (p.S1314T, p.(Ser1314Thr)), NPHP3(NM_153240.5):c.3941G>C (p.S1314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132681962C>G" "" "likely benign" "" "0000517952" "0" "50" "3" "132402277" "132402277" "subst" "0.000272298" "02325" "ACAD11_000008" "g.132402277G>A" "" "" "" "NPHP3(NM_153240.5):c.3662C>T (p.A1221V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132683433G>A" "" "VUS" "" "0000517953" "0" "50" "3" "132403418" "132403418" "subst" "0.00835796" "01943" "ACAD11_000009" "g.132403418C>T" "" "" "" "NPHP3(NM_153240.4):c.3550G>A (p.A1184T, p.(Ala1184Thr)), NPHP3(NM_153240.5):c.3550G>A (p.A1184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132684574C>T" "" "VUS" "" "0000517954" "0" "30" "3" "132403418" "132403418" "subst" "0.00835796" "01804" "ACAD11_000009" "g.132403418C>T" "" "" "" "NPHP3(NM_153240.4):c.3550G>A (p.A1184T, p.(Ala1184Thr)), NPHP3(NM_153240.5):c.3550G>A (p.A1184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132684574C>T" "" "likely benign" "" "0000517955" "0" "10" "3" "132403418" "132403418" "subst" "0.00835796" "02326" "ACAD11_000009" "g.132403418C>T" "" "" "" "NPHP3(NM_153240.4):c.3550G>A (p.A1184T, p.(Ala1184Thr)), NPHP3(NM_153240.5):c.3550G>A (p.A1184T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132684574C>T" "" "benign" "" "0000517957" "0" "10" "3" "132405181" "132405181" "subst" "0.00149037" "02330" "NPHP3_000010" "g.132405181T>C" "" "" "" "NPHP3(NM_153240.4):c.3252A>G (p.T1084=), NPHP3(NM_153240.5):c.3252A>G (p.T1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132686337T>C" "" "benign" "" "0000517958" "0" "10" "3" "132407487" "132407487" "dup" "0" "01943" "ACAD11_000011" "g.132407487dup" "" "" "" "NPHP3(NM_153240.4):c.3125+12dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132688643dup" "" "benign" "" "0000517959" "0" "50" "3" "132407725" "132407725" "subst" "1.21984E-5" "01943" "ACAD11_000012" "g.132407725G>A" "" "" "" "NPHP3(NM_153240.4):c.2894C>T (p.P965L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132688881G>A" "" "VUS" "" "0000517960" "0" "30" "3" "132407920" "132407920" "subst" "0.000284692" "02330" "ACAD11_000013" "g.132407920G>C" "" "" "" "NPHP3(NM_153240.5):c.2881C>G (p.Q961E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132689076G>C" "" "likely benign" "" "0000517962" "0" "90" "3" "132408108" "132408109" "del" "0.000276299" "01943" "NPHP3_000020" "g.132408108_132408109del" "" "" "" "NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132689264_132689265del" "" "pathogenic" "" "0000517963" "0" "10" "3" "132409355" "132409355" "subst" "0.00246474" "02330" "NPHP3_000021" "g.132409355T>C" "" "" "" "NPHP3(NM_153240.4):c.2693+17A>G, NPHP3(NM_153240.5):c.2693+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132690511T>C" "" "benign" "" "0000517964" "0" "10" "3" "132409455" "132409455" "subst" "0.027892" "01943" "ACAD11_000014" "g.132409455C>T" "" "" "" "NPHP3(NM_153240.4):c.2610G>A (p.P870=), NPHP3(NM_153240.5):c.2610G>A (p.(Pro870=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132690611C>T" "" "benign" "" "0000517965" "0" "10" "3" "132409501" "132409501" "subst" "0.0304515" "01804" "NPHP3_000023" "g.132409501A>G" "" "" "" "NPHP3(NM_153240.4):c.2571-7T>C, NPHP3(NM_153240.5):c.2571-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132690657A>G" "" "benign" "" "0000517967" "0" "50" "3" "132413671" "132413671" "subst" "0" "01943" "ACAD11_000016" "g.132413671C>T" "" "" "" "NPHP3(NM_153240.4):c.2310G>A (p.Q770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132694827C>T" "" "VUS" "" "0000517969" "0" "50" "3" "132415578" "132415578" "subst" "1.21824E-5" "02330" "ACAD11_000018" "g.132415578G>A" "" "" "" "NPHP3(NM_153240.5):c.2168C>T (p.A723V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132696734G>A" "" "VUS" "" "0000517970" "0" "90" "3" "132415642" "132415642" "subst" "4.06207E-5" "02325" "ACAD11_000019" "g.132415642G>A" "" "" "" "NPHP3(NM_153240.4):c.2104C>T (p.R702*), NPHP3(NM_153240.5):c.2104C>T (p.R702*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132696798G>A" "" "pathogenic" "" "0000517971" "0" "50" "3" "132418279" "132418279" "subst" "2.46069E-5" "02330" "ACAD11_000020" "g.132418279T>C" "" "" "" "NPHP3(NM_153240.4):c.1903A>G (p.M635V), NPHP3(NM_153240.5):c.1903A>G (p.M635V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132699435T>C" "" "VUS" "" "0000517972" "0" "50" "3" "132418279" "132418279" "subst" "2.46069E-5" "01943" "ACAD11_000020" "g.132418279T>C" "" "" "" "NPHP3(NM_153240.4):c.1903A>G (p.M635V), NPHP3(NM_153240.5):c.1903A>G (p.M635V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132699435T>C" "" "VUS" "" "0000517973" "0" "30" "3" "132418756" "132418756" "subst" "0.00153636" "01804" "NPHP3_000029" "g.132418756C>T" "" "" "" "NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132699912C>T" "" "likely benign" "" "0000517974" "0" "50" "3" "132418796" "132418796" "subst" "0.00069049" "01943" "ACAD11_000021" "g.132418796A>G" "" "" "" "NPHP3(NM_153240.4):c.1853T>C (p.I618T), NPHP3(NM_153240.5):c.1853T>C (p.I618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132699952A>G" "" "VUS" "" "0000517975" "0" "30" "3" "132420390" "132420390" "dup" "0" "01943" "ACAD11_000022" "g.132420390dup" "" "" "" "NPHP3(NM_153240.4):c.1525-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132701546dup" "" "likely benign" "" "0000517976" "0" "70" "3" "132423129" "132423129" "subst" "0" "01804" "ACAD11_000023" "g.132423129A>C" "" "" "" "NPHP3(NM_153240.4):c.1437T>G (p.(Asp479Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132704285A>C" "" "likely pathogenic" "" "0000517977" "0" "30" "3" "132427031" "132427031" "subst" "0.00303437" "02330" "ACAD11_000024" "g.132427031G>A" "" "" "" "NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132708187G>A" "" "likely benign" "" "0000517978" "0" "50" "3" "132427031" "132427031" "subst" "0.00303437" "01943" "ACAD11_000024" "g.132427031G>A" "" "" "" "NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132708187G>A" "" "VUS" "" "0000517979" "0" "30" "3" "132427031" "132427031" "subst" "0.00303437" "01804" "ACAD11_000024" "g.132427031G>A" "" "" "" "NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132708187G>A" "" "likely benign" "" "0000517980" "0" "10" "3" "132427031" "132427031" "subst" "0.00303437" "02326" "ACAD11_000024" "g.132427031G>A" "" "" "" "NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132708187G>A" "" "benign" "" "0000517981" "0" "30" "3" "132427063" "132427063" "subst" "0.00187292" "02330" "ACAD11_000025" "g.132427063T>C" "" "" "" "NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132708219T>C" "" "likely benign" "" "0000517982" "0" "50" "3" "132427063" "132427063" "subst" "0.00187292" "01943" "ACAD11_000025" "g.132427063T>C" "" "" "" "NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132708219T>C" "" "VUS" "" "0000517984" "0" "30" "3" "132427063" "132427063" "subst" "0.00187292" "02325" "ACAD11_000025" "g.132427063T>C" "" "" "" "NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132708219T>C" "" "likely benign" "" "0000517985" "0" "30" "3" "132427063" "132427063" "subst" "0.00187292" "02326" "ACAD11_000025" "g.132427063T>C" "" "" "" "NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132708219T>C" "" "likely benign" "" "0000517986" "0" "10" "3" "132431961" "132431961" "dup" "0" "02330" "ACAD11_000026" "g.132431961dup" "" "" "" "NPHP3(NM_153240.5):c.1118+16dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132713117dup" "" "benign" "" "0000517987" "0" "70" "3" "132431973" "132431973" "subst" "0" "02325" "ACAD11_000027" "g.132431973G>A" "" "" "" "NPHP3(NM_153240.5):c.1115C>T (p.P372L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132713129G>A" "" "likely pathogenic" "" "0000517988" "0" "90" "3" "132432016" "132432016" "subst" "0" "02327" "ACAD11_000028" "g.132432016C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132713172C>A" "" "pathogenic" "" "0000517989" "0" "90" "3" "132437960" "132437967" "dup" "0" "02325" "ACAD11_000029" "g.132437960_132437967dup" "" "" "" "NPHP3(NM_153240.5):c.541_548dupAATGAAAT (p.Q184Mfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132719116_132719123dup" "" "pathogenic" "" "0000517990" "0" "10" "3" "132437998" "132437998" "subst" "0.000736307" "02330" "ACAD11_000030" "g.132437998G>C" "" "" "" "NPHP3(NM_153240.5):c.520-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132719154G>C" "" "benign" "" "0000517991" "0" "10" "3" "132440789" "132440789" "subst" "0.000143015" "02330" "ACAD11_000031" "g.132440789G>A" "" "" "" "NPHP3(NM_153240.5):c.393+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132721945G>A" "" "benign" "" "0000517992" "0" "30" "3" "132441046" "132441046" "subst" "0.0136813" "01804" "NPHP3_000001" "g.132441046C>T" "" "" "" "NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132722202C>T" "" "likely benign" "" "0000517993" "0" "10" "3" "132441095" "132441095" "subst" "0.00163522" "02326" "NPHP3_000047" "g.132441095C>T" "" "" "" "NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132722251C>T" "" "benign" "" "0000517994" "0" "30" "3" "132441143" "132441143" "subst" "0.0158218" "01943" "ACAD11_000032" "g.132441143C>G" "" "" "" "NPHP3(NM_153240.4):c.57G>C (p.T19=), NPHP3(NM_153240.5):c.57G>C (p.(Thr19=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132722299C>G" "" "likely benign" "" "0000608330" "0" "90" "3" "132401662" "132401662" "dup" "0" "02327" "ACAD11_000035" "g.132401662dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132682818dup" "" "pathogenic" "" "0000608331" "0" "50" "3" "132402290" "132402290" "subst" "3.25116E-5" "02325" "ACAD11_000036" "g.132402290T>G" "" "" "" "NPHP3(NM_153240.5):c.3649A>C (p.(Ser1217Arg), p.S1217R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132683446T>G" "" "VUS" "" "0000608332" "0" "30" "3" "132408098" "132408098" "subst" "0" "02330" "ACAD11_000037" "g.132408098A>G" "" "" "" "NPHP3(NM_153240.5):c.2703T>C (p.F901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132689254A>G" "" "likely benign" "" "0000621181" "0" "50" "3" "132384687" "132384687" "subst" "3.25235E-5" "01943" "ACAD11_000033" "g.132384687G>A" "" "" "" "UBA5(NM_024818.4):c.182G>A (p.R61Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132665843G>A" "" "VUS" "" "0000621182" "0" "30" "3" "132394221" "132394221" "subst" "4.88472E-5" "01943" "ACAD11_000034" "g.132394221A>T" "" "" "" "UBA5(NM_024818.4):c.942A>T (p.E314D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132675377A>T" "" "likely benign" "" "0000654805" "0" "30" "3" "132400806" "132400806" "subst" "0.00153574" "02326" "NPHP3_000004" "g.132400806C>G" "" "" "" "NPHP3(NM_153240.4):c.3941G>C (p.S1314T, p.(Ser1314Thr)), NPHP3(NM_153240.5):c.3941G>C (p.S1314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132681962C>G" "" "likely benign" "" "0000654806" "0" "30" "3" "132419309" "132419309" "subst" "0.000691056" "02330" "ACAD11_000038" "g.132419309G>T" "" "" "" "NPHP3(NM_153240.5):c.1629-17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132700465G>T" "" "likely benign" "" "0000676826" "0" "90" "3" "132394747" "132394747" "subst" "0.00189745" "01943" "UBA5_000014" "g.132394747G>A" "" "" "" "UBA5(NM_024818.3):c.1111G>A (p.(Ala371Thr)), UBA5(NM_024818.4):c.1111G>A (p.A371T), UBA5(NM_024818.5):c.1111G>A (p.A371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000676827" "0" "30" "3" "132402275" "132402275" "subst" "0.000247907" "02326" "ACAD11_000039" "g.132402275A>G" "" "" "" "NPHP3(NM_153240.5):c.3664T>C (p.L1222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676828" "0" "90" "3" "132415642" "132415642" "subst" "4.06207E-5" "01943" "ACAD11_000019" "g.132415642G>A" "" "" "" "NPHP3(NM_153240.4):c.2104C>T (p.R702*), NPHP3(NM_153240.5):c.2104C>T (p.R702*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000676829" "0" "50" "3" "132418279" "132418279" "subst" "2.46069E-5" "02325" "ACAD11_000020" "g.132418279T>C" "" "" "" "NPHP3(NM_153240.4):c.1903A>G (p.M635V), NPHP3(NM_153240.5):c.1903A>G (p.M635V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676830" "0" "50" "3" "132434023" "132434023" "subst" "0" "01943" "ACAD11_000040" "g.132434023G>A" "" "" "" "NPHP3(NM_153240.4):c.863C>T (p.T288I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688943" "0" "50" "3" "132406059" "132406059" "subst" "1.26789E-5" "01943" "ACAD11_000041" "g.132406059G>C" "" "" "" "NPHP3(NM_153240.4):c.3137C>G (p.A1046G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688944" "0" "10" "3" "132408032" "132408032" "subst" "0.000796172" "02326" "NPHP3_000019" "g.132408032G>A" "" "" "" "NPHP3(NM_153240.4):c.2769C>T (p.F923=), NPHP3(NM_153240.5):c.2769C>T (p.F923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688945" "0" "50" "3" "132416206" "132416206" "subst" "0" "02325" "ACAD11_000042" "g.132416206C>A" "" "" "" "NPHP3(NM_153240.5):c.1986G>T (p.R662S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704438" "3" "90" "3" "132379412" "132379412" "subst" "0" "00006" "UBA5_000016" "g.132379412C>T" "" "{PMID:Cabrera-Serrano 2020: 32179706}" "" "" "" "Germline" "" "" "0" "" "" "g.132660568C>T" "" "pathogenic (recessive)" "" "0000704439" "3" "90" "3" "132379412" "132379412" "subst" "0" "00006" "UBA5_000016" "g.132379412C>T" "" "{PMID:Cabrera-Serrano 2020: 32179706}" "" "" "" "Germline" "" "" "0" "" "" "g.132660568C>T" "" "pathogenic (recessive)" "" "0000704440" "3" "90" "3" "132379412" "132379412" "subst" "0" "00006" "UBA5_000016" "g.132379412C>T" "" "{PMID:Cabrera-Serrano 2020: 32179706}" "" "" "" "Germline" "" "" "0" "" "" "g.132660568C>T" "" "pathogenic (recessive)" "" "0000704441" "3" "90" "3" "132379412" "132379412" "subst" "0" "00006" "UBA5_000016" "g.132379412C>T" "" "{PMID:Cabrera-Serrano 2020: 32179706}" "" "" "" "Germline" "" "" "0" "" "" "g.132660568C>T" "" "pathogenic (recessive)" "" "0000704442" "3" "90" "3" "132379412" "132379412" "subst" "0" "00006" "UBA5_000016" "g.132379412C>T" "" "{PMID:Cabrera-Serrano 2020: 32179706}" "" "" "" "Germline" "" "" "0" "" "" "g.132660568C>T" "" "pathogenic (recessive)" "" "0000719190" "0" "50" "3" "132403469" "132403469" "subst" "2.43908E-5" "01943" "ACAD11_000044" "g.132403469G>A" "" "" "" "NPHP3(NM_153240.4):c.3499C>T (p.R1167C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719191" "0" "30" "3" "132403657" "132403657" "subst" "3.71033E-5" "02326" "ACAD11_000045" "g.132403657A>G" "" "" "" "NPHP3(NM_153240.5):c.3330-19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719192" "0" "30" "3" "132405212" "132405212" "subst" "0.000548263" "02326" "NPHP3_000012" "g.132405212C>T" "" "" "" "NPHP3(NM_153240.4):c.3221G>A (p.R1074H, p.(Arg1074His)), NPHP3(NM_153240.5):c.3221G>A (p.R1074H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719193" "0" "50" "3" "132407624" "132407624" "subst" "0.000126054" "01943" "ACAD11_000046" "g.132407624T>C" "" "" "" "NPHP3(NM_153240.4):c.2995A>G (p.K999E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719194" "0" "90" "3" "132408108" "132408109" "del" "0.000276299" "02325" "NPHP3_000020" "g.132408108_132408109del" "" "" "" "NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719195" "0" "10" "3" "132409355" "132409355" "subst" "0.00246474" "02326" "NPHP3_000021" "g.132409355T>C" "" "" "" "NPHP3(NM_153240.4):c.2693+17A>G, NPHP3(NM_153240.5):c.2693+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719196" "0" "30" "3" "132411531" "132411531" "subst" "0.000150303" "01943" "ACAD11_000047" "g.132411531A>G" "" "" "" "NPHP3(NM_153240.4):c.2442T>C (p.Y814=), NPHP3(NM_153240.5):c.2442T>C (p.Y814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719197" "0" "30" "3" "132415577" "132415577" "subst" "0.000101519" "01943" "ACAD11_000048" "g.132415577C>T" "" "" "" "NPHP3(NM_153240.4):c.2169G>A (p.A723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719198" "0" "30" "3" "132416213" "132416213" "subst" "2.47756E-5" "01943" "ACAD11_000049" "g.132416213T>C" "" "" "" "NPHP3(NM_153240.4):c.1986-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719199" "0" "30" "3" "132418913" "132418913" "subst" "1.21879E-5" "01943" "ACAD11_000050" "g.132418913A>G" "" "" "" "NPHP3(NM_153240.4):c.1744-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719200" "0" "30" "3" "132440816" "132440816" "subst" "5.366E-5" "01943" "ACAD11_000051" "g.132440816G>C" "" "" "" "NPHP3(NM_153240.4):c.384C>G (p.A128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800990" "0" "50" "3" "132394142" "132394142" "subst" "1.62596E-5" "01943" "ACAD11_000052" "g.132394142T>C" "" "" "" "UBA5(NM_024818.4):c.863T>C (p.M288T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800991" "0" "70" "3" "132394174" "132394174" "subst" "1.62631E-5" "02329" "ACAD11_000053" "g.132394174C>T" "" "" "" "UBA5(NM_024818.6):c.895C>T (p.P299S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800992" "0" "50" "3" "132395348" "132395348" "subst" "8.22781E-6" "01943" "NPHP3_000064" "g.132395348T>A" "" "" "" "UBA5(NM_024818.4):c.1193T>A (p.M398K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800993" "0" "50" "3" "132405143" "132405143" "subst" "4.06098E-6" "01943" "NPHP3_000065" "g.132405143T>C" "" "" "" "NPHP3(NM_153240.4):c.3290A>G (p.N1097S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800994" "0" "30" "3" "132405152" "132405152" "subst" "0.000491379" "02326" "NPHP3_000009" "g.132405152C>T" "" "" "" "NPHP3(NM_153240.5):c.3281G>A (p.(Arg1094Gln), p.R1094Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800995" "0" "50" "3" "132405228" "132405228" "subst" "4.06157E-5" "01943" "NPHP3_000066" "g.132405228C>T" "" "" "" "NPHP3(NM_153240.4):c.3205G>A (p.G1069R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800996" "0" "30" "3" "132407920" "132407920" "subst" "0.000284692" "02326" "ACAD11_000013" "g.132407920G>C" "" "" "" "NPHP3(NM_153240.5):c.2881C>G (p.Q961E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800997" "0" "30" "3" "132411531" "132411531" "subst" "0.000150303" "02330" "ACAD11_000047" "g.132411531A>G" "" "" "" "NPHP3(NM_153240.4):c.2442T>C (p.Y814=), NPHP3(NM_153240.5):c.2442T>C (p.Y814=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800998" "0" "50" "3" "132415632" "132415632" "subst" "6.90406E-5" "01943" "NPHP3_000067" "g.132415632C>T" "" "" "" "NPHP3(NM_153240.4):c.2114G>A (p.R705H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800999" "0" "30" "3" "132427031" "132427031" "subst" "0.00303437" "02325" "ACAD11_000024" "g.132427031G>A" "" "" "" "NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801000" "0" "30" "3" "132427115" "132427115" "subst" "1.62898E-5" "02326" "ACAD11_000054" "g.132427115C>A" "" "" "" "NPHP3(NM_153240.5):c.1119-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801001" "0" "30" "3" "132432050" "132432050" "subst" "0" "02330" "NPHP3_000068" "g.132432050T>C" "" "" "" "NPHP3(NM_153240.5):c.1038A>G (p.E346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801002" "0" "50" "3" "132435639" "132435639" "subst" "0" "01943" "NPHP3_000069" "g.132435639G>T" "" "" "" "NPHP3(NM_153240.4):c.785C>A (p.S262Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801003" "0" "30" "3" "132435765" "132435765" "subst" "0" "02330" "NPHP3_000070" "g.132435765G>C" "" "" "" "NPHP3(NM_153240.5):c.671-12C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000824008" "11" "50" "3" "132384868" "132384868" "subst" "0" "02494" "UBA5_000017" "g.132384868G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000824009" "21" "70" "3" "132394747" "132394747" "subst" "0.00189745" "02494" "UBA5_000014" "g.132394747G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850137" "0" "50" "3" "132390931" "132390931" "subst" "0" "01943" "ACAD11_000056" "g.132390931A>G" "" "" "" "UBA5(NM_024818.4):c.722A>G (p.E241G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850138" "0" "30" "3" "132418756" "132418756" "subst" "0.00153636" "02326" "NPHP3_000029" "g.132418756C>T" "" "" "" "NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850139" "0" "50" "3" "132434030" "132434030" "subst" "4.06266E-6" "01943" "ACAD11_000059" "g.132434030G>C" "" "" "" "NPHP3(NM_153240.4):c.856C>G (p.Q286E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850140" "0" "10" "3" "132438619" "132438619" "subst" "0.00161205" "02330" "NPHP3_000044" "g.132438619G>A" "" "" "" "NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000850141" "0" "30" "3" "132440789" "132440789" "subst" "0.000143015" "02326" "ACAD11_000031" "g.132440789G>A" "" "" "" "NPHP3(NM_153240.5):c.393+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850142" "0" "50" "3" "132440961" "132440961" "subst" "0" "01943" "ACAD11_000061" "g.132440961G>A" "" "" "" "NPHP3(NM_153240.4):c.239C>T (p.S80L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858802" "0" "30" "3" "132384718" "132384718" "subst" "2.43988E-5" "01943" "ACAD11_000055" "g.132384718A>C" "" "" "" "UBA5(NM_024818.4):c.207+6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858803" "0" "90" "3" "132394747" "132394747" "subst" "0.00189745" "02326" "UBA5_000014" "g.132394747G>A" "" "" "" "UBA5(NM_024818.3):c.1111G>A (p.(Ala371Thr)), UBA5(NM_024818.4):c.1111G>A (p.A371T), UBA5(NM_024818.5):c.1111G>A (p.A371T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858804" "0" "50" "3" "132401637" "132401637" "subst" "9.34883E-5" "01943" "ACAD11_000057" "g.132401637A>G" "" "" "" "NPHP3(NM_153240.4):c.3722T>C (p.L1241S), NPHP3(NM_153240.5):c.3722T>C (p.(Leu1241Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858805" "0" "30" "3" "132405181" "132405181" "subst" "0.00149037" "02326" "NPHP3_000010" "g.132405181T>C" "" "" "" "NPHP3(NM_153240.4):c.3252A>G (p.T1084=), NPHP3(NM_153240.5):c.3252A>G (p.T1084=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858806" "0" "30" "3" "132423209" "132423209" "subst" "0.000333249" "01943" "ACAD11_000058" "g.132423209G>A" "" "" "" "NPHP3(NM_153240.4):c.1357C>T (p.L453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858807" "0" "30" "3" "132438579" "132438579" "subst" "1.26778E-5" "01943" "ACAD11_000060" "g.132438579A>G" "" "" "" "NPHP3(NM_153240.4):c.489T>C (p.H163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858808" "0" "30" "3" "132438618" "132438618" "subst" "0.00335888" "02326" "NPHP3_000043" "g.132438618C>T" "" "" "" "NPHP3(NM_153240.4):c.450G>A (p.A150=), NPHP3(NM_153240.5):c.450G>A (p.A150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858809" "0" "50" "3" "132441115" "132441115" "subst" "0" "02327" "ACAD11_000062" "g.132441115C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885565" "0" "30" "3" "132408032" "132408032" "subst" "0.000796172" "02330" "NPHP3_000019" "g.132408032G>A" "" "" "" "NPHP3(NM_153240.4):c.2769C>T (p.F923=), NPHP3(NM_153240.5):c.2769C>T (p.F923=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911832" "0" "90" "3" "132432132" "132432132" "subst" "4.32119E-5" "02326" "ACAD11_000063" "g.132432132T>C" "" "" "" "NPHP3(NM_153240.5):c.958-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911833" "0" "30" "3" "132441011" "132441011" "subst" "7.92778E-5" "02326" "ACAD11_000064" "g.132441011C>G" "" "" "" "NPHP3(NM_153240.5):c.189G>C (p.G63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923837" "0" "30" "3" "132403464" "132403464" "subst" "0.000195112" "02326" "NPHP3_000008" "g.132403464T>C" "" "" "" "NPHP3(NM_153240.4):c.3504A>G (p.A1168=), NPHP3(NM_153240.5):c.3504A>G (p.A1168=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923838" "0" "90" "3" "132415642" "132415642" "subst" "4.06207E-5" "02327" "ACAD11_000019" "g.132415642G>A" "" "" "" "NPHP3(NM_153240.4):c.2104C>T (p.R702*), NPHP3(NM_153240.5):c.2104C>T (p.R702*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923839" "0" "50" "3" "132433966" "132433966" "subst" "0" "02327" "ACAD11_000065" "g.132433966G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923840" "0" "50" "3" "132435600" "132435600" "subst" "8.12301E-6" "02326" "ACAD11_000066" "g.132435600C>T" "" "" "" "NPHP3(NM_153240.5):c.823+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928715" "0" "30" "3" "132437998" "132437998" "subst" "0.000736307" "02326" "ACAD11_000030" "g.132437998G>C" "" "" "" "NPHP3(NM_153240.5):c.520-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000935957" "1" "90" "3" "132384834" "132384834" "subst" "4.066E-5" "00006" "UBA5_000018" "g.132384834C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline" "" "" "0" "" "" "g.132665990C>T" "" "pathogenic" "" "0000936035" "2" "90" "3" "132384686" "132384686" "subst" "0" "00006" "UBA5_000006" "g.132384686C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.132665842C>T" "" "pathogenic" "" "0000948028" "0" "30" "3" "132406078" "132406078" "subst" "0.000125933" "02330" "ACAD11_000067" "g.132406078A>C" "" "" "" "NPHP3(NM_153240.5):c.3126-8T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948029" "0" "30" "3" "132407739" "132407739" "subst" "0.000207523" "02330" "ACAD11_000068" "g.132407739G>C" "" "" "" "NPHP3(NM_153240.5):c.2884-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948031" "0" "30" "3" "132441082" "132441082" "subst" "7.48815E-5" "02330" "ACAD11_000069" "g.132441082G>A" "" "" "" "NPHP3(NM_153240.5):c.118C>T (p.L40=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975581" "0" "50" "3" "132407587" "132407587" "subst" "6.50533E-5" "01804" "ACAD11_000070" "g.132407587G>A" "" "" "" "NPHP3(NM_153240.5):c.3032C>T (p.(Ala1011Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975582" "0" "30" "3" "132418796" "132418796" "subst" "0.00069049" "02326" "ACAD11_000021" "g.132418796A>G" "" "" "" "NPHP3(NM_153240.4):c.1853T>C (p.I618T), NPHP3(NM_153240.5):c.1853T>C (p.I618T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975583" "0" "50" "3" "132437919" "132437919" "subst" "8.12269E-6" "01804" "ACAD11_000071" "g.132437919G>A" "" "" "" "NPHP3(NM_153240.5):c.589C>T (p.(Leu197Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975584" "0" "30" "3" "132441011" "132441011" "subst" "7.92778E-5" "02330" "ACAD11_000064" "g.132441011C>G" "" "" "" "NPHP3(NM_153240.5):c.189G>C (p.G63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975585" "0" "50" "3" "132441135" "132441135" "subst" "0.000141136" "01804" "ACAD11_000072" "g.132441135G>A" "" "" "" "NPHP3(NM_153240.5):c.65C>T (p.(Ala22Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975586" "0" "30" "3" "132441143" "132441143" "subst" "0.0158218" "01804" "ACAD11_000032" "g.132441143C>G" "" "" "" "NPHP3(NM_153240.4):c.57G>C (p.T19=), NPHP3(NM_153240.5):c.57G>C (p.(Thr19=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993298" "0" "30" "3" "132400776" "132400776" "subst" "0.000320924" "02326" "ACAD11_000007" "g.132400776A>G" "" "" "" "NPHP3(NM_153240.5):c.3971T>C (p.F1324S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993299" "0" "30" "3" "132403468" "132403468" "subst" "0.000345548" "02326" "ACAD11_000010" "g.132403468C>T" "" "" "" "NPHP3(NM_153240.5):c.3500G>A (p.R1167H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993300" "0" "30" "3" "132407633" "132407633" "subst" "0.000138287" "01804" "NPHP3_000015" "g.132407633C>T" "" "" "" "NPHP3(NM_153240.4):c.2986G>A (p.V996M, p.(Val996Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024724" "0" "50" "3" "132295859" "132295859" "subst" "4.17561E-6" "02325" "ACAD11_000073" "g.132295859T>C" "" "" "" "ACAD11(NM_032169.5):c.1775A>G (p.D592G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033687" "0" "30" "3" "132319967" "132319967" "subst" "8.2087E-6" "01804" "ACAD11_000074" "g.132319967G>A" "" "" "" "ACKR4(NM_016557.4):c.726G>A (p.(Leu242=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033688" "0" "50" "3" "132401637" "132401637" "subst" "9.34883E-5" "01804" "ACAD11_000057" "g.132401637A>G" "" "" "" "NPHP3(NM_153240.4):c.3722T>C (p.L1241S), NPHP3(NM_153240.5):c.3722T>C (p.(Leu1241Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033689" "0" "50" "3" "132402290" "132402290" "subst" "3.25116E-5" "01804" "ACAD11_000036" "g.132402290T>G" "" "" "" "NPHP3(NM_153240.5):c.3649A>C (p.(Ser1217Arg), p.S1217R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033690" "0" "90" "3" "132403595" "132403595" "subst" "8.13941E-6" "01804" "ACAD11_000075" "g.132403595G>A" "" "" "" "NPHP3(NM_153240.5):c.3373C>T (p.(Arg1125*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033691" "0" "90" "3" "132408108" "132408109" "del" "0.000276299" "01804" "NPHP3_000020" "g.132408108_132408109del" "" "" "" "NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033692" "0" "90" "3" "132408108" "132408109" "del" "0.000276299" "02326" "NPHP3_000020" "g.132408108_132408109del" "" "" "" "NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033693" "0" "10" "3" "132409455" "132409455" "subst" "0.027892" "01804" "ACAD11_000014" "g.132409455C>T" "" "" "" "NPHP3(NM_153240.4):c.2610G>A (p.P870=), NPHP3(NM_153240.5):c.2610G>A (p.(Pro870=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033694" "0" "30" "3" "132415666" "132415666" "subst" "0.00438418" "01804" "NPHP3_000027" "g.132415666G>A" "" "" "" "NPHP3(NM_153240.4):c.2089-9C>T, NPHP3(NM_153240.5):c.2089-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033695" "0" "50" "3" "132419209" "132419209" "subst" "0" "01804" "ACAD11_000076" "g.132419209G>C" "" "" "" "NPHP3(NM_153240.5):c.1712C>G (p.(Ser571Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes UBA5 ## Count = 229 "{{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}}" "0000246153" "00022212" "10" "7521" "0" "7521" "0" "c.*6306del" "r.(?)" "p.(=)" "" "0000246154" "00022212" "10" "11927" "0" "11927" "0" "c.*10712del" "r.(?)" "p.(=)" "" "0000246177" "00022212" "30" "29074" "0" "29074" "0" "c.*27859A>C" "r.(=)" "p.(=)" "" "0000251298" "00022212" "10" "26235" "0" "26235" "0" "c.*25020del" "r.(?)" "p.(=)" "" "0000253768" "00022212" "10" "15346" "0" "15346" "0" "c.*14131A>G" "r.(=)" "p.(=)" "" "0000253769" "00022212" "10" "39916" "0" "39916" "0" "c.*38701A>G" "r.(=)" "p.(=)" "" "0000255073" "00022212" "30" "39867" "0" "39867" "0" "c.*38652A>T" "r.(=)" "p.(=)" "" "0000255215" "00022212" "30" "30421" "0" "30421" "0" "c.*29206A>G" "r.(=)" "p.(=)" "" "0000255216" "00022212" "30" "43677" "0" "43677" "0" "c.*42462A>G" "r.(=)" "p.(=)" "" "0000255851" "00022212" "50" "46963" "0" "46963" "0" "c.*45748A>G" "r.(=)" "p.(=)" "" "0000293190" "00022212" "10" "46940" "0" "46940" "0" "c.*45725C>T" "r.(=)" "p.(=)" "" "0000293191" "00022212" "10" "24601" "0" "24601" "0" "c.*23386C>T" "r.(=)" "p.(=)" "" "0000293192" "00022212" "10" "21459" "0" "21459" "0" "c.*20244T>C" "r.(=)" "p.(=)" "" "0000293193" "00022212" "50" "46812" "0" "46812" "0" "c.*45597C>A" "r.(=)" "p.(=)" "" "0000293194" "00022212" "10" "13527" "0" "13527" "0" "c.*12312G>A" "r.(=)" "p.(=)" "" "0000293195" "00022212" "50" "7448" "0" "7448" "0" "c.*6233G>C" "r.(=)" "p.(=)" "" "0000293196" "00022212" "30" "6651" "0" "6651" "0" "c.*5436C>G" "r.(=)" "p.(=)" "" "0000298749" "00022212" "90" "13953" "0" "13954" "0" "c.*12738_*12739del" "r.(=)" "p.(=)" "" "0000300344" "00022212" "10" "47113" "0" "47113" "0" "c.*45898T>C" "r.(=)" "p.(=)" "" "0000300345" "00022212" "10" "46891" "0" "46891" "0" "c.*45676C>T" "r.(=)" "p.(=)" "" "0000300346" "00022212" "10" "22051" "0" "22051" "0" "c.*20836C>T" "r.(=)" "p.(=)" "" "0000300347" "00022212" "90" "13795" "0" "13795" "0" "c.*12580G>A" "r.(=)" "p.(=)" "" "0000300348" "00022212" "10" "7445" "0" "7445" "0" "c.*6230C>T" "r.(=)" "p.(=)" "" "0000300349" "00022212" "10" "6679" "0" "6679" "0" "c.*5464G>A" "r.(=)" "p.(=)" "" "0000300350" "00022212" "10" "44607" "0" "44608" "0" "c.*43392_*43393del" "r.(=)" "p.(=)" "" "0000300351" "00022212" "30" "44464" "0" "44464" "0" "c.*43249G>A" "r.(=)" "p.(=)" "" "0000300352" "00022212" "10" "42754" "0" "42754" "0" "c.*41539del" "r.(?)" "p.(=)" "" "0000304438" "00022212" "50" "37924" "0" "37924" "0" "c.*36709G>A" "r.(=)" "p.(=)" "" "0000304439" "00022212" "30" "46940" "0" "46940" "0" "c.*45725C>T" "r.(=)" "p.(=)" "" "0000304440" "00022212" "50" "32875" "0" "32875" "0" "c.*31660C>T" "r.(=)" "p.(=)" "" "0000304442" "00022212" "30" "46891" "0" "46891" "0" "c.*45676C>T" "r.(=)" "p.(=)" "" "0000304443" "00022212" "30" "24601" "0" "24601" "0" "c.*23386C>T" "r.(=)" "p.(=)" "" "0000304444" "00022212" "30" "21511" "0" "21511" "0" "c.*20296G>A" "r.(=)" "p.(=)" "" "0000304445" "00022212" "30" "15907" "0" "15907" "0" "c.*14692T>G" "r.(=)" "p.(=)" "" "0000304446" "00022212" "30" "15303" "0" "15303" "0" "c.*14088G>A" "r.(=)" "p.(=)" "" "0000304447" "00022212" "10" "15200" "0" "15200" "0" "c.*13985T>C" "r.(=)" "p.(=)" "" "0000304448" "00022212" "30" "13877" "0" "13877" "0" "c.*12662G>A" "r.(=)" "p.(=)" "" "0000304449" "00022212" "50" "13837" "0" "13837" "0" "c.*12622C>A" "r.(=)" "p.(=)" "" "0000304450" "00022212" "50" "13478" "0" "13478" "0" "c.*12263C>T" "r.(=)" "p.(=)" "" "0000304452" "00022212" "50" "11057" "0" "11057" "0" "c.*9842C>T" "r.(=)" "p.(=)" "" "0000304453" "00022212" "50" "11049" "0" "11049" "0" "c.*9834C>T" "r.(=)" "p.(=)" "" "0000304454" "00022212" "30" "11026" "0" "11026" "0" "c.*9811T>C" "r.(=)" "p.(=)" "" "0000304455" "00022212" "50" "9309" "0" "9309" "0" "c.*8094T>C" "r.(=)" "p.(=)" "" "0000304456" "00022212" "50" "7448" "0" "7448" "0" "c.*6233G>C" "r.(=)" "p.(=)" "" "0000304457" "00022212" "10" "7445" "0" "7445" "0" "c.*6230C>T" "r.(=)" "p.(=)" "" "0000304458" "00022212" "30" "6651" "0" "6651" "0" "c.*5436C>G" "r.(=)" "p.(=)" "" "0000304459" "00022212" "30" "44464" "0" "44464" "0" "c.*43249G>A" "r.(=)" "p.(=)" "" "0000304460" "00022212" "10" "44463" "0" "44463" "0" "c.*43248C>T" "r.(=)" "p.(=)" "" "0000304461" "00022212" "30" "43732" "0" "43732" "0" "c.*42517T>C" "r.(=)" "p.(=)" "" "0000329606" "00022212" "50" "-41048" "0" "-41048" "0" "c.-41048G>C" "r.(?)" "p.(=)" "" "0000329607" "00022212" "50" "10997" "0" "10997" "0" "c.*9782C>T" "r.(=)" "p.(=)" "" "0000329608" "00022212" "30" "11057" "0" "11057" "0" "c.*9842C>T" "r.(=)" "p.(=)" "" "0000329611" "00022212" "50" "24700" "0" "24700" "0" "c.*23485C>G" "r.(=)" "p.(=)" "" "0000337140" "00022212" "90" "7390" "0" "7390" "0" "c.*6175dup" "r.(?)" "p.(=)" "" "0000339397" "00022212" "10" "11026" "0" "11026" "0" "c.*9811T>C" "r.(=)" "p.(=)" "" "0000340831" "00022212" "10" "7445" "0" "7445" "0" "c.*6230C>T" "r.(=)" "p.(=)" "" "0000344507" "00022212" "90" "9407" "0" "9407" "0" "c.*8192G>A" "r.(=)" "p.(=)" "" "0000344541" "00022212" "50" "6607" "0" "6607" "0" "c.*5392G>T" "r.(=)" "p.(=)" "" "0000348147" "00022212" "50" "9292" "0" "9292" "0" "c.*8077G>A" "r.(=)" "p.(=)" "" "0000349202" "00022212" "50" "15235" "0" "15235" "0" "c.*14020G>A" "r.(=)" "p.(=)" "" "0000349663" "00022212" "50" "13541" "0" "13541" "0" "c.*12326T>C" "r.(=)" "p.(=)" "" "0000350887" "00022212" "90" "13953" "0" "13954" "0" "c.*12738_*12739del" "r.(=)" "p.(=)" "" "0000351703" "00022212" "90" "158" "0" "158" "0" "c.158A>T" "r.158a>u" "p.Tyr53Phe" "2" "0000403789" "00022212" "90" "164" "0" "164" "0" "c.164G>A" "r.162_207del" "p.(Arg55His)" "2" "0000403790" "00022212" "90" "855" "0" "855" "0" "c.855C>A" "r.(?)" "p.(Tyr285*)" "9" "0000403791" "00022212" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188*)" "6" "0000403792" "00022212" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "2" "0000403793" "00022212" "90" "562" "0" "562" "0" "c.562C>T" "r.(?)" "p.(Arg188*)" "6" "0000403794" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.1111g>a" "p.Ala371Thr" "11" "0000403795" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403796" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403797" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403798" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403799" "00022212" "90" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Gln302*)" "9" "0000403800" "00022212" "90" "971" "0" "972" "0" "c.971_972insC" "r.(?)" "p.(Lys324Asnfs*14)" "10" "0000403801" "00022212" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Val260Met)" "8" "0000403802" "00022212" "90" "169" "0" "169" "0" "c.169A>C" "r.(?)" "p.(Met57Leu)" "2" "0000403803" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403804" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403805" "00022212" "90" "1165" "0" "1165" "0" "c.1165G>T" "r.(?)" "p.(Asp389Tyr)" "12" "0000403806" "00022212" "90" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Gly168Glu)" "6" "0000403807" "00022212" "90" "684" "0" "684" "0" "c.684G>A" "r.spl" "p.(Ala228=)" "7" "0000403808" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403809" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403810" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403811" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403812" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000403813" "00022212" "90" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246*)" "" "0000403814" "00022212" "90" "928" "0" "928" "0" "c.928A>G" "r.(?)" "p.(Lys310Glu)" "" "0000404725" "00022212" "90" "164" "0" "164" "0" "c.164G>A" "r.(?)" "p.(Arg55His)" "2" "0000404740" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "11" "0000517944" "00022212" "50" "20" "0" "20" "0" "c.20G>A" "r.(?)" "p.(Arg7His)" "" "0000517945" "00022212" "50" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(Glu41Gly)" "" "0000517946" "00022212" "30" "161" "338" "161" "338" "c.161+338T>A" "r.(=)" "p.(=)" "" "0000517947" "00022212" "30" "199" "0" "199" "0" "c.199G>A" "r.(?)" "p.(Asp67Asn)" "" "0000517948" "00022212" "30" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(Glu313=)" "" "0000517949" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "" "0000517951" "00022212" "30" "6651" "0" "6651" "0" "c.*5436C>G" "r.(=)" "p.(=)" "" "0000517952" "00022212" "50" "8122" "0" "8122" "0" "c.*6907G>A" "r.(=)" "p.(=)" "" "0000517953" "00022212" "50" "9263" "0" "9263" "0" "c.*8048C>T" "r.(=)" "p.(=)" "" "0000517954" "00022212" "30" "9263" "0" "9263" "0" "c.*8048C>T" "r.(=)" "p.(=)" "" "0000517955" "00022212" "10" "9263" "0" "9263" "0" "c.*8048C>T" "r.(=)" "p.(=)" "" "0000517957" "00022212" "10" "11026" "0" "11026" "0" "c.*9811T>C" "r.(=)" "p.(=)" "" "0000517958" "00022212" "10" "13332" "0" "13332" "0" "c.*12117dup" "r.(?)" "p.(=)" "" "0000517959" "00022212" "50" "13570" "0" "13570" "0" "c.*12355G>A" "r.(=)" "p.(=)" "" "0000517960" "00022212" "30" "13765" "0" "13765" "0" "c.*12550G>C" "r.(=)" "p.(=)" "" "0000517962" "00022212" "90" "13953" "0" "13954" "0" "c.*12738_*12739del" "r.(=)" "p.(=)" "" "0000517963" "00022212" "10" "15200" "0" "15200" "0" "c.*13985T>C" "r.(=)" "p.(=)" "" "0000517964" "00022212" "10" "15300" "0" "15300" "0" "c.*14085C>T" "r.(=)" "p.(=)" "" "0000517965" "00022212" "10" "15346" "0" "15346" "0" "c.*14131A>G" "r.(=)" "p.(=)" "" "0000517967" "00022212" "50" "19516" "0" "19516" "0" "c.*18301C>T" "r.(=)" "p.(=)" "" "0000517969" "00022212" "50" "21423" "0" "21423" "0" "c.*20208G>A" "r.(=)" "p.(=)" "" "0000517970" "00022212" "90" "21487" "0" "21487" "0" "c.*20272G>A" "r.(=)" "p.(=)" "" "0000517971" "00022212" "50" "24124" "0" "24124" "0" "c.*22909T>C" "r.(=)" "p.(=)" "" "0000517972" "00022212" "50" "24124" "0" "24124" "0" "c.*22909T>C" "r.(=)" "p.(=)" "" "0000517973" "00022212" "30" "24601" "0" "24601" "0" "c.*23386C>T" "r.(=)" "p.(=)" "" "0000517974" "00022212" "50" "24641" "0" "24641" "0" "c.*23426A>G" "r.(=)" "p.(=)" "" "0000517975" "00022212" "30" "26235" "0" "26235" "0" "c.*25020dup" "r.(?)" "p.(=)" "" "0000517976" "00022212" "70" "28974" "0" "28974" "0" "c.*27759A>C" "r.(=)" "p.(=)" "" "0000517977" "00022212" "30" "32876" "0" "32876" "0" "c.*31661G>A" "r.(=)" "p.(=)" "" "0000517978" "00022212" "50" "32876" "0" "32876" "0" "c.*31661G>A" "r.(=)" "p.(=)" "" "0000517979" "00022212" "30" "32876" "0" "32876" "0" "c.*31661G>A" "r.(=)" "p.(=)" "" "0000517980" "00022212" "10" "32876" "0" "32876" "0" "c.*31661G>A" "r.(=)" "p.(=)" "" "0000517981" "00022212" "30" "32908" "0" "32908" "0" "c.*31693T>C" "r.(=)" "p.(=)" "" "0000517982" "00022212" "50" "32908" "0" "32908" "0" "c.*31693T>C" "r.(=)" "p.(=)" "" "0000517984" "00022212" "30" "32908" "0" "32908" "0" "c.*31693T>C" "r.(=)" "p.(=)" "" "0000517985" "00022212" "30" "32908" "0" "32908" "0" "c.*31693T>C" "r.(=)" "p.(=)" "" "0000517986" "00022212" "10" "37806" "0" "37806" "0" "c.*36591dup" "r.(?)" "p.(=)" "" "0000517987" "00022212" "70" "37818" "0" "37818" "0" "c.*36603G>A" "r.(=)" "p.(=)" "" "0000517988" "00022212" "90" "37861" "0" "37861" "0" "c.*36646C>A" "r.(=)" "p.(=)" "" "0000517989" "00022212" "90" "43805" "0" "43812" "0" "c.*42590_*42597dup" "r.(=)" "p.(=)" "" "0000517990" "00022212" "10" "43843" "0" "43843" "0" "c.*42628G>C" "r.(=)" "p.(=)" "" "0000517991" "00022212" "10" "46634" "0" "46634" "0" "c.*45419G>A" "r.(=)" "p.(=)" "" "0000517992" "00022212" "30" "46891" "0" "46891" "0" "c.*45676C>T" "r.(=)" "p.(=)" "" "0000517993" "00022212" "10" "46940" "0" "46940" "0" "c.*45725C>T" "r.(=)" "p.(=)" "" "0000517994" "00022212" "30" "46988" "0" "46988" "0" "c.*45773C>G" "r.(=)" "p.(=)" "" "0000608330" "00022212" "90" "7507" "0" "7507" "0" "c.*6292dup" "r.(?)" "p.(=)" "" "0000608331" "00022212" "50" "8135" "0" "8135" "0" "c.*6920T>G" "r.(=)" "p.(=)" "" "0000608332" "00022212" "30" "13943" "0" "13943" "0" "c.*12728A>G" "r.(=)" "p.(=)" "" "0000621181" "00022212" "50" "182" "0" "182" "0" "c.182G>A" "r.(?)" "p.(Arg61Gln)" "" "0000621182" "00022212" "30" "942" "0" "942" "0" "c.942A>T" "r.(?)" "p.(Glu314Asp)" "" "0000654805" "00022212" "30" "6651" "0" "6651" "0" "c.*5436C>G" "r.(=)" "p.(=)" "" "0000654806" "00022212" "30" "25154" "0" "25154" "0" "c.*23939G>T" "r.(=)" "p.(=)" "" "0000676826" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "" "0000676827" "00022212" "30" "8120" "0" "8120" "0" "c.*6905A>G" "r.(=)" "p.(=)" "" "0000676828" "00022212" "90" "21487" "0" "21487" "0" "c.*20272G>A" "r.(=)" "p.(=)" "" "0000676829" "00022212" "50" "24124" "0" "24124" "0" "c.*22909T>C" "r.(=)" "p.(=)" "" "0000676830" "00022212" "50" "39868" "0" "39868" "0" "c.*38653G>A" "r.(=)" "p.(=)" "" "0000688943" "00022212" "50" "11904" "0" "11904" "0" "c.*10689G>C" "r.(=)" "p.(=)" "" "0000688944" "00022212" "10" "13877" "0" "13877" "0" "c.*12662G>A" "r.(=)" "p.(=)" "" "0000688945" "00022212" "50" "22051" "0" "22051" "0" "c.*20836C>A" "r.(=)" "p.(=)" "" "0000704438" "00022212" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000704439" "00022212" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000704440" "00022212" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000704441" "00022212" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000704442" "00022212" "90" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Arg11Trp)" "" "0000719190" "00022212" "50" "9314" "0" "9314" "0" "c.*8099G>A" "r.(=)" "p.(=)" "" "0000719191" "00022212" "30" "9502" "0" "9502" "0" "c.*8287A>G" "r.(=)" "p.(=)" "" "0000719192" "00022212" "30" "11057" "0" "11057" "0" "c.*9842C>T" "r.(=)" "p.(=)" "" "0000719193" "00022212" "50" "13469" "0" "13469" "0" "c.*12254T>C" "r.(=)" "p.(=)" "" "0000719194" "00022212" "90" "13953" "0" "13954" "0" "c.*12738_*12739del" "r.(=)" "p.(=)" "" "0000719195" "00022212" "10" "15200" "0" "15200" "0" "c.*13985T>C" "r.(=)" "p.(=)" "" "0000719196" "00022212" "30" "17376" "0" "17376" "0" "c.*16161A>G" "r.(=)" "p.(=)" "" "0000719197" "00022212" "30" "21422" "0" "21422" "0" "c.*20207C>T" "r.(=)" "p.(=)" "" "0000719198" "00022212" "30" "22058" "0" "22058" "0" "c.*20843T>C" "r.(=)" "p.(=)" "" "0000719199" "00022212" "30" "24758" "0" "24758" "0" "c.*23543A>G" "r.(=)" "p.(=)" "" "0000719200" "00022212" "30" "46661" "0" "46661" "0" "c.*45446G>C" "r.(=)" "p.(=)" "" "0000800990" "00022212" "50" "863" "0" "863" "0" "c.863T>C" "r.(?)" "p.(Met288Thr)" "" "0000800991" "00022212" "70" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Pro299Ser)" "" "0000800992" "00022212" "50" "1193" "0" "1193" "0" "c.1193T>A" "r.(?)" "p.(Met398Lys)" "" "0000800993" "00022212" "50" "10988" "0" "10988" "0" "c.*9773T>C" "r.(=)" "p.(=)" "" "0000800994" "00022212" "30" "10997" "0" "10997" "0" "c.*9782C>T" "r.(=)" "p.(=)" "" "0000800995" "00022212" "50" "11073" "0" "11073" "0" "c.*9858C>T" "r.(=)" "p.(=)" "" "0000800996" "00022212" "30" "13765" "0" "13765" "0" "c.*12550G>C" "r.(=)" "p.(=)" "" "0000800997" "00022212" "30" "17376" "0" "17376" "0" "c.*16161A>G" "r.(=)" "p.(=)" "" "0000800998" "00022212" "50" "21477" "0" "21477" "0" "c.*20262C>T" "r.(=)" "p.(=)" "" "0000800999" "00022212" "30" "32876" "0" "32876" "0" "c.*31661G>A" "r.(=)" "p.(=)" "" "0000801000" "00022212" "30" "32960" "0" "32960" "0" "c.*31745C>A" "r.(=)" "p.(=)" "" "0000801001" "00022212" "30" "37895" "0" "37895" "0" "c.*36680T>C" "r.(=)" "p.(=)" "" "0000801002" "00022212" "50" "41484" "0" "41484" "0" "c.*40269G>T" "r.(=)" "p.(=)" "" "0000801003" "00022212" "30" "41610" "0" "41610" "0" "c.*40395G>C" "r.(=)" "p.(=)" "" "0000824008" "00022212" "50" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Gly83Glu)" "" "0000824009" "00022212" "70" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "" "0000850137" "00022212" "50" "722" "0" "722" "0" "c.722A>G" "r.(?)" "p.(Glu241Gly)" "" "0000850138" "00022212" "30" "24601" "0" "24601" "0" "c.*23386C>T" "r.(=)" "p.(=)" "" "0000850139" "00022212" "50" "39875" "0" "39875" "0" "c.*38660G>C" "r.(=)" "p.(=)" "" "0000850140" "00022212" "10" "44464" "0" "44464" "0" "c.*43249G>A" "r.(=)" "p.(=)" "" "0000850141" "00022212" "30" "46634" "0" "46634" "0" "c.*45419G>A" "r.(=)" "p.(=)" "" "0000850142" "00022212" "50" "46806" "0" "46806" "0" "c.*45591G>A" "r.(=)" "p.(=)" "" "0000858802" "00022212" "30" "207" "6" "207" "6" "c.207+6A>C" "r.(=)" "p.(=)" "" "0000858803" "00022212" "90" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Ala371Thr)" "" "0000858804" "00022212" "50" "7482" "0" "7482" "0" "c.*6267A>G" "r.(=)" "p.(=)" "" "0000858805" "00022212" "30" "11026" "0" "11026" "0" "c.*9811T>C" "r.(=)" "p.(=)" "" "0000858806" "00022212" "30" "29054" "0" "29054" "0" "c.*27839G>A" "r.(=)" "p.(=)" "" "0000858807" "00022212" "30" "44424" "0" "44424" "0" "c.*43209A>G" "r.(=)" "p.(=)" "" "0000858808" "00022212" "30" "44463" "0" "44463" "0" "c.*43248C>T" "r.(=)" "p.(=)" "" "0000858809" "00022212" "50" "46960" "0" "46960" "0" "c.*45745C>T" "r.(=)" "p.(=)" "" "0000885565" "00022212" "30" "13877" "0" "13877" "0" "c.*12662G>A" "r.(=)" "p.(=)" "" "0000911832" "00022212" "90" "37977" "0" "37977" "0" "c.*36762T>C" "r.(=)" "p.(=)" "" "0000911833" "00022212" "30" "46856" "0" "46856" "0" "c.*45641C>G" "r.(=)" "p.(=)" "" "0000923837" "00022212" "30" "9309" "0" "9309" "0" "c.*8094T>C" "r.(=)" "p.(=)" "" "0000923838" "00022212" "90" "21487" "0" "21487" "0" "c.*20272G>A" "r.(=)" "p.(=)" "" "0000923839" "00022212" "50" "39811" "0" "39811" "0" "c.*38596G>A" "r.(=)" "p.(=)" "" "0000923840" "00022212" "50" "41445" "0" "41445" "0" "c.*40230C>T" "r.(=)" "p.(=)" "" "0000928715" "00022212" "30" "43843" "0" "43843" "0" "c.*42628G>C" "r.(=)" "p.(=)" "" "0000935957" "00022212" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72Cys)" "" "0000936035" "00022212" "90" "181" "0" "181" "0" "c.181C>T" "r.(?)" "p.(Arg61*)" "" "0000948028" "00022212" "30" "11923" "0" "11923" "0" "c.*10708A>C" "r.(=)" "p.(=)" "" "0000948029" "00022212" "30" "13584" "0" "13584" "0" "c.*12369G>C" "r.(=)" "p.(=)" "" "0000948031" "00022212" "30" "46927" "0" "46927" "0" "c.*45712G>A" "r.(=)" "p.(=)" "" "0000975581" "00022212" "50" "13432" "0" "13432" "0" "c.*12217G>A" "r.(=)" "p.(=)" "" "0000975582" "00022212" "30" "24641" "0" "24641" "0" "c.*23426A>G" "r.(=)" "p.(=)" "" "0000975583" "00022212" "50" "43764" "0" "43764" "0" "c.*42549G>A" "r.(=)" "p.(=)" "" "0000975584" "00022212" "30" "46856" "0" "46856" "0" "c.*45641C>G" "r.(=)" "p.(=)" "" "0000975585" "00022212" "50" "46980" "0" "46980" "0" "c.*45765G>A" "r.(=)" "p.(=)" "" "0000975586" "00022212" "30" "46988" "0" "46988" "0" "c.*45773C>G" "r.(=)" "p.(=)" "" "0000993298" "00022212" "30" "6621" "0" "6621" "0" "c.*5406A>G" "r.(=)" "p.(=)" "" "0000993299" "00022212" "30" "9313" "0" "9313" "0" "c.*8098C>T" "r.(=)" "p.(=)" "" "0000993300" "00022212" "30" "13478" "0" "13478" "0" "c.*12263C>T" "r.(=)" "p.(=)" "" "0001024724" "00022212" "50" "-83523" "0" "-83523" "0" "c.-83523T>C" "r.(?)" "p.(=)" "" "0001033687" "00022212" "30" "-59415" "0" "-59415" "0" "c.-59415G>A" "r.(?)" "p.(=)" "" "0001033688" "00022212" "50" "7482" "0" "7482" "0" "c.*6267A>G" "r.(=)" "p.(=)" "" "0001033689" "00022212" "50" "8135" "0" "8135" "0" "c.*6920T>G" "r.(=)" "p.(=)" "" "0001033690" "00022212" "90" "9440" "0" "9440" "0" "c.*8225G>A" "r.(=)" "p.(=)" "" "0001033691" "00022212" "90" "13953" "0" "13954" "0" "c.*12738_*12739del" "r.(=)" "p.(=)" "" "0001033692" "00022212" "90" "13953" "0" "13954" "0" "c.*12738_*12739del" "r.(=)" "p.(=)" "" "0001033693" "00022212" "10" "15300" "0" "15300" "0" "c.*14085C>T" "r.(=)" "p.(=)" "" "0001033694" "00022212" "30" "21511" "0" "21511" "0" "c.*20296G>A" "r.(=)" "p.(=)" "" "0001033695" "00022212" "50" "25054" "0" "25054" "0" "c.*23839G>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 38 "{{screeningid}}" "{{variantid}}" "0000152859" "0000351703" "0000180326" "0000403789" "0000180326" "0000403794" "0000180327" "0000403790" "0000180327" "0000403795" "0000180328" "0000403791" "0000180328" "0000403796" "0000180329" "0000403792" "0000180329" "0000403797" "0000180330" "0000403793" "0000180330" "0000403798" "0000180331" "0000403799" "0000180331" "0000403803" "0000180332" "0000403800" "0000180332" "0000403804" "0000180333" "0000403801" "0000180333" "0000403805" "0000180334" "0000403802" "0000180334" "0000403806" "0000180335" "0000403807" "0000180335" "0000403808" "0000180336" "0000403809" "0000180337" "0000403810" "0000180338" "0000403811" "0000180339" "0000403812" "0000180340" "0000403813" "0000180340" "0000403814" "0000181089" "0000404725" "0000181089" "0000404740" "0000321543" "0000704438" "0000321544" "0000704439" "0000321545" "0000704440" "0000321546" "0000704441" "0000321547" "0000704442" "0000393279" "0000824008" "0000393279" "0000824009" "0000439828" "0000935957" "0000439828" "0000936035"