### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = OPTN) # 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}}" "OPTN" "optineurin" "10" "p14" "unknown" "NG_012876.1" "UD_132118397245" "" "https://www.LOVD.nl/OPTN" "" "1" "17142" "10133" "602432" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OPTN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2019-03-09 15:07:18" "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}}" "00025390" "OPTN" "transcript variant 1" "005" "NM_001008211.1" "" "NP_001008212.1" "" "" "" "-453" "3144" "1734" "13142082" "13180276" "00006" "2019-03-09 15:08:13" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "01346" "POAG;GLC1E" "glaucoma, open angle, primary (POAG, glaucoma, open angle, type 1E (GLC-1E))" "AD" "137760" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02592" "NTG" "glaucoma, normal tension, susceptibility to" "" "606657" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03334" "ALS12" "sclerosis, lateral, amyotrophic, type type 12 (ALS12)" "" "613435" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05" "04267" "-" "glaucoma" "" "" "" "" "" "00006" "2015-05-14 15:50:28" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "OPTN" "01346" "OPTN" "02592" "OPTN" "03334" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00078536" "" "" "" "5" "" "01604" "{PMID:Goldstein 2016:26740678}, {DOI:Goldstein 2016:10.1212/WNL.0000000000002334}" "2-generation family, affected father, 4 sisters" "F" "" "Morocco" "46y" "0" "" "" "Jewish" "26740678-FamPatII1" "00078537" "" "" "00078536" "1" "" "01604" "{PMID:Goldstein 2016:26740678}, {DOI:Goldstein 2016:10.1212/WNL.0000000000002334}" "" "F" "" "Morocco" "43y" "0" "" "" "Jewish" "26740678-FamPatII2" "00078538" "" "" "00078536" "1" "" "01604" "{PMID:Goldstein 2016:26740678}, {DOI:Goldstein 2016:10.1212/WNL.0000000000002334}" "PatII4" "F" "" "Morocco" "52y" "0" "" "" "Jewish" "26740678-FamPatII4" "00078539" "" "" "00078536" "1" "" "01604" "{PMID:Goldstein 2016:26740678}, {DOI:Goldstein 2016:10.1212/WNL.0000000000002334}" "PatII5" "F" "" "Morocco" ">70y" "0" "" "" "Jewish" "26740678-FamPatII5" "00226588" "" "" "" "1" "" "03018" "" "" "" "" "" "" "0" "" "" "" "" "00363793" "" "" "" "1" "" "00000" "{PMID:Huang 2014:24825108}" "" "M" "" "China" "" "0" "" "" "" "G542" "00390785" "" "" "" "1" "" "00000" "{PMID:Booij-2011:20801516}" "" "" "" "" "" "0" "" "" "" "" "00397528" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "190239" "00407038" "" "" "" "4" "" "00006" "{PMID:Jiang 2022:33563768}" "family, 4 affected" "M" "yes" "China" "" "0" "" "" "" "OPTN#1" "00407039" "" "" "" "1" "" "00006" "{PMID:Jiang 2022:33563768}" "" "F" "yes" "China" "" "0" "" "" "" "OPTN#2" "00407040" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "" "M" "" "China" "" "0" "" "" "" "OPTN#3" "00415652" "" "" "" "5" "" "00000" "{PMID:Mackay 2015:26162006}" "" "" "" "" "" "0" "" "" "African-American" "I:1, I:4, II:5, II:7, II:10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00078536" "04255" "00078537" "04255" "00078538" "04255" "00078539" "00000" "00226588" "04255" "00363793" "04267" "00390785" "04214" "00397528" "03334" "00407038" "04255" "00407039" "04255" "00407040" "04255" "00415652" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 01346, 02592, 03334, 04214, 04255, 04267 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000058312" "04255" "00078536" "01604" "Familial, autosomal recessive" "" "upper motor neuron involvement (HP:0002493), no cognitive involvement (-HP:0100543)" "" "" "" "" "" "" "" "" "" "0000058313" "04255" "00078537" "01604" "Familial, autosomal recessive" "" "upper motor neuron involvement (HP:0002493), no cognitive involvement (-HP:0100543)" "" "" "" "" "" "" "" "" "" "0000058314" "04255" "00078538" "01604" "Familial, autosomal recessive" "" "rapidly progressive presenile dementia (HP:0000726), motor neuron damage (HP:0002493)" "" "" "" "" "" "" "" "" "" "0000171700" "04255" "00226588" "03018" "Familial" "" "" "" "" "" "" "" "" "" "ALS-12" "amyotrophic lateral sclerosis" "0000259140" "04267" "00363793" "00000" "Di-genic" "15y" "see paper; ..." "" "" "" "" "" "" "" "" "juvenile open-angle glaucoma" "0000284273" "04214" "00390785" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "glaucoma" "0000290650" "03334" "00397528" "01164" "Familial" "53y" "Skeletal muscle atrophy, Muscle weakness, Proximal muscle weakness, Elevated circulating creatine kinase concentration, Polyneuropathy, Sensory axonal neuropathy, Peripheral axonal neuropathy, Peripheral neuropathy, Calcium channel antibody positivity, Autoimmunity\r\n; father with ALS" "" "" "" "" "" "" "" "" "" "0000299426" "04255" "00407038" "00006" "Familial, autosomal recessive" "42y" "site onset limb" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "0000299427" "04255" "00407039" "00006" "Familial, autosomal recessive" "30y" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "0000299428" "04255" "00407040" "00006" "Familial, autosomal recessive" "33y" "site onset bulbar" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" "0000307432" "04214" "00415652" "00000" "Familial, autosomal dominant" "" "significantly elevated intra ocular pressure (IOP) >30 mm Hg with consistent visual field and/or optic nerve abnormalities." "" "" "" "" "" "" "" "" "Autosomal Dominant Primary Open-Angle Glaucoma" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000078711" "00078536" "1" "01604" "01604" "2016-07-19 11:55:53" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000078712" "00078537" "1" "01604" "01604" "2016-07-19 11:58:42" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000078713" "00078538" "1" "01604" "01604" "2016-07-19 12:04:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000078714" "00078539" "1" "01604" "01604" "2016-07-19 12:06:43" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000227676" "00226588" "1" "03018" "00006" "2013-05-20 10:27:21" "00006" "2013-05-21 22:08:29" "SEQ" "DNA" "" "" "0000365021" "00363793" "1" "00000" "00006" "2021-04-30 09:22:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000392026" "00390785" "1" "00000" "00008" "2021-11-11 21:56:08" "" "" "arraySEQ" "DNA" "Blood" "" "0000398768" "00397528" "1" "01164" "01164" "2021-12-23 13:01:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000408285" "00407038" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408286" "00407039" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000408287" "00407040" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" "" "0000429368" "00415652" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ;SEQ-NG;microsat" "DNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000078711" "OPTN" "0000078712" "OPTN" "0000078713" "OPTN" "0000078714" "OPTN" "0000227676" "OPTN" "0000365021" "MYOC" "0000365021" "OPTN" "0000392026" "OPTN" "0000398768" "HEXA" "0000398768" "OPTN" "0000429368" "EFEMP1" ## 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 = 72 "{{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}}" "0000125812" "3" "90" "10" "13154464" "13154465" "ins" "0.000186811" "01604" "OPTN_000002" "g.13154464_13154465insAG" "" "{PMID:Goldstein 2016:26740678}, {DOI:Goldstein 2016:10.1212/WNL.0000000000002334}" "" "691_692insAG" "" "Germline" "" "" "0" "" "" "g.13112464_13112465insAG" "" "pathogenic (recessive)" "" "0000125813" "3" "90" "10" "13154464" "13154465" "ins" "0.000186811" "01604" "OPTN_000002" "g.13154464_13154465insAG" "" "{PMID:Goldstein 2016:26740678}, {DOI:Goldstein 2016:10.1212/WNL.0000000000002334}" "" "" "" "Germline" "" "" "0" "" "" "g.13112464_13112465insAG" "" "pathogenic (recessive)" "" "0000125814" "3" "90" "10" "13154464" "13154465" "ins" "0.000186811" "01604" "OPTN_000002" "g.13154464_13154465insAG" "" "{PMID:Goldstein 2016:26740678}, {DOI:Goldstein 2016:10.1212/WNL.0000000000002334}" "" "" "" "Germline" "" "" "0" "" "" "g.13112464_13112465insAG" "" "pathogenic (recessive)" "" "0000125815" "10" "90" "10" "13154464" "13154465" "ins" "0.000186811" "01604" "OPTN_000002" "g.13154464_13154465insAG" "" "{PMID:Goldstein 2016:26740678}, {DOI:Goldstein 2016:10.1212/WNL.0000000000002334}" "" "" "" "Germline" "yes" "" "0" "" "" "g.13112464_13112465insAG" "" "pathogenic (recessive)" "" "0000246866" "0" "10" "10" "13166076" "13166076" "subst" "0.997591" "02330" "OPTN_000013" "g.13166076A>G" "" "" "" "OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13124076=" "" "benign" "" "0000247828" "0" "10" "10" "13166076" "13166076" "subst" "0.997591" "02325" "OPTN_000013" "g.13166076A>G" "" "" "" "OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13124076=" "" "benign" "" "0000249855" "0" "10" "10" "13166076" "13166076" "subst" "0.997591" "02329" "OPTN_000013" "g.13166076A>G" "" "" "" "OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13124076=" "" "benign" "" "0000249975" "0" "30" "10" "13154572" "13154572" "subst" "0.00162024" "02329" "OPTN_000009" "g.13154572A>G" "" "" "" "OPTN(NM_001008211.1):c.489A>G (p.E163=), OPTN(NM_021980.4):c.489A>G (p.E163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13112572A>G" "" "likely benign" "" "0000250309" "0" "30" "10" "13167496" "13167496" "subst" "8.12381E-6" "02329" "OPTN_000014" "g.13167496A>G" "" "" "" "OPTN(NM_001008211.1):c.1077A>G (p.K359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13125496A>G" "" "likely benign" "" "0000250334" "0" "30" "10" "13154487" "13154487" "subst" "0.000121831" "02329" "OPTN_000008" "g.13154487A>C" "" "" "" "OPTN(NM_001008211.1):c.404A>C (p.E135A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13112487A>C" "" "likely benign" "" "0000250604" "0" "10" "10" "13166076" "13166076" "subst" "0.997591" "02326" "OPTN_000013" "g.13166076A>G" "" "" "" "OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13124076=" "" "benign" "" "0000252956" "0" "10" "10" "13166076" "13166076" "subst" "0.997591" "01943" "OPTN_000013" "g.13166076A>G" "" "" "" "OPTN(NM_001008211.1):c.964A>G (p.K322E), OPTN(NM_021980.4):c.964A>G (p.K322E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13124076=" "" "benign" "" "0000254066" "0" "30" "10" "13154572" "13154572" "subst" "0.00162024" "01943" "OPTN_000009" "g.13154572A>G" "" "" "" "OPTN(NM_001008211.1):c.489A>G (p.E163=), OPTN(NM_021980.4):c.489A>G (p.E163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13112572A>G" "" "likely benign" "" "0000256438" "0" "50" "10" "13166053" "13166053" "subst" "0.000146376" "01943" "OPTN_000012" "g.13166053A>T" "" "" "" "OPTN(NM_001008211.1):c.941A>T (p.Q314L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13124053A>T" "" "VUS" "" "0000293391" "0" "10" "10" "13151224" "13151224" "subst" "0.242347" "02330" "OPTN_000003" "g.13151224G>A" "" "" "" "OPTN(NM_001008211.1):c.102G>A (p.T34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13109224G>A" "" "benign" "" "0000293392" "0" "30" "10" "13152400" "13152400" "subst" "0.0435919" "02330" "OPTN_000005" "g.13152400T>A" "" "" "" "OPTN(NM_001008211.1):c.293T>A (p.M98K), OPTN(NM_021980.4):c.293T>A (p.M98K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13110400T>A" "" "likely benign" "" "0000293393" "0" "10" "10" "13152516" "13152516" "del" "0" "02330" "OPTN_000006" "g.13152516del" "" "" "" "OPTN(NM_001008211.1):c.369+40delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13110516del" "" "benign" "" "0000293394" "0" "10" "10" "13158262" "13158262" "subst" "0.816084" "02330" "OPTN_000010" "g.13158262C>T" "" "" "" "OPTN(NM_001008211.1):c.553-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13116262C>T" "" "benign" "" "0000296688" "0" "10" "10" "13151224" "13151224" "subst" "0.242347" "02325" "OPTN_000003" "g.13151224G>A" "" "" "" "OPTN(NM_001008211.1):c.102G>A (p.T34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13109224G>A" "" "benign" "" "0000296689" "0" "10" "10" "13158262" "13158262" "subst" "0.816084" "02325" "OPTN_000010" "g.13158262C>T" "" "" "" "OPTN(NM_001008211.1):c.553-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13116262C>T" "" "benign" "" "0000298764" "0" "10" "10" "13151224" "13151224" "subst" "0.242347" "02329" "OPTN_000003" "g.13151224G>A" "" "" "" "OPTN(NM_001008211.1):c.102G>A (p.T34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13109224G>A" "" "benign" "" "0000298765" "0" "10" "10" "13151245" "13151245" "subst" "0.00723384" "02329" "OPTN_000004" "g.13151245G>A" "" "" "" "OPTN(NM_001008211.1):c.123G>A (p.L41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13109245G>A" "" "benign" "" "0000298766" "0" "30" "10" "13169826" "13169826" "subst" "4.06095E-5" "02329" "OPTN_000016" "g.13169826C>T" "" "" "" "OPTN(NM_001008211.1):c.1324C>T (p.L442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13127826C>T" "" "likely benign" "" "0000298767" "0" "10" "10" "13152400" "13152400" "subst" "0.0435919" "02329" "OPTN_000005" "g.13152400T>A" "" "" "" "OPTN(NM_001008211.1):c.293T>A (p.M98K), OPTN(NM_021980.4):c.293T>A (p.M98K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13110400T>A" "" "benign" "" "0000298768" "0" "30" "10" "13154481" "13154481" "subst" "4.06098E-6" "02329" "OPTN_000007" "g.13154481G>A" "" "" "" "OPTN(NM_001008211.1):c.398G>A (p.R133K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13112481G>A" "" "likely benign" "" "0000298769" "0" "10" "10" "13158262" "13158262" "subst" "0.816084" "02329" "OPTN_000010" "g.13158262C>T" "" "" "" "OPTN(NM_001008211.1):c.553-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13116262C>T" "" "benign" "" "0000298770" "0" "30" "10" "13166003" "13166003" "subst" "5.28412E-5" "02329" "OPTN_000011" "g.13166003C>T" "" "" "" "OPTN(NM_001008211.1):c.891C>T (p.S297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13124003C>T" "" "likely benign" "" "0000304807" "0" "10" "10" "13151224" "13151224" "subst" "0.242347" "01943" "OPTN_000003" "g.13151224G>A" "" "" "" "OPTN(NM_001008211.1):c.102G>A (p.T34=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13109224G>A" "" "benign" "" "0000304808" "0" "90" "10" "13168040" "13168040" "subst" "4.07787E-6" "01943" "OPTN_000015" "g.13168040G>A" "" "" "" "OPTN(NM_001008211.1):c.1242+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13126040G>A" "" "pathogenic" "" "0000304809" "0" "10" "10" "13152400" "13152400" "subst" "0.0435919" "01943" "OPTN_000005" "g.13152400T>A" "" "" "" "OPTN(NM_001008211.1):c.293T>A (p.M98K), OPTN(NM_021980.4):c.293T>A (p.M98K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13110400T>A" "" "benign" "" "0000304810" "0" "10" "10" "13158262" "13158262" "subst" "0.816084" "01943" "OPTN_000010" "g.13158262C>T" "" "" "" "OPTN(NM_001008211.1):c.553-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13116262C>T" "" "benign" "" "0000350886" "0" "90" "10" "13168040" "13168040" "subst" "4.07787E-6" "02327" "OPTN_000015" "g.13168040G>A" "" "" "" "OPTN(NM_001008211.1):c.1242+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.13126040G>A" "" "pathogenic" "" "0000467912" "0" "90" "10" "13174098" "13174098" "subst" "0" "03018" "OPTN_000001" "g.13174098A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.13132098A>G" "" "pathogenic" "" "0000539509" "0" "10" "10" "13154485" "13154485" "subst" "0.00190868" "01943" "OPTN_000017" "g.13154485C>A" "" "" "" "OPTN(NM_001008211.1):c.402C>A (p.A134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13112485C>A" "" "benign" "" "0000539510" "0" "50" "10" "13154559" "13154559" "subst" "2.43637E-5" "01943" "OPTN_000018" "g.13154559G>T" "" "" "" "OPTN(NM_001008211.1):c.476G>T (p.G159V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13112559G>T" "" "VUS" "" "0000539511" "0" "90" "10" "13154576" "13154576" "subst" "8.12156E-6" "01943" "OPTN_000019" "g.13154576C>T" "" "" "" "OPTN(NM_001008211.1):c.493C>T (p.Q165*), OPTN(NM_001008212.2):c.493C>T (p.(Gln165Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13112576C>T" "" "pathogenic" "" "0000539512" "0" "30" "10" "13158257" "13158257" "subst" "0.00976072" "02329" "OPTN_000020" "g.13158257G>A" "" "" "" "OPTN(NM_001008211.1):c.553-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13116257G>A" "" "likely benign" "" "0000539514" "0" "30" "10" "13160878" "13160878" "subst" "0.00219293" "02329" "OPTN_000022" "g.13160878T>C" "" "" "" "OPTN(NM_001008211.1):c.627-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13118878T>C" "" "likely benign" "" "0000539516" "0" "50" "10" "13164492" "13164492" "subst" "4.06187E-6" "01943" "OPTN_000023" "g.13164492G>C" "" "" "" "OPTN(NM_001008211.1):c.882+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13122492G>C" "" "VUS" "" "0000539518" "0" "30" "10" "13166075" "13166075" "subst" "0.00132535" "02329" "OPTN_000024" "g.13166075C>T" "" "" "" "OPTN(NM_001008211.1):c.963C>T (p.S321=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13124075C>T" "" "likely benign" "" "0000539523" "0" "10" "10" "13175591" "13175591" "subst" "0.00127137" "01943" "OPTN_000026" "g.13175591G>A" "" "" "" "OPTN(NM_001008211.1):c.1612+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13133591G>A" "" "benign" "" "0000612362" "0" "10" "10" "13152400" "13152400" "subst" "0.0435919" "02326" "OPTN_000005" "g.13152400T>A" "" "" "" "OPTN(NM_001008211.1):c.293T>A (p.M98K), OPTN(NM_021980.4):c.293T>A (p.M98K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13110400T>A" "" "benign" "" "0000612363" "0" "30" "10" "13152402" "13152402" "subst" "3.25047E-5" "01943" "OPTN_000028" "g.13152402G>T" "" "" "" "OPTN(NM_001008211.1):c.295G>T (p.A99S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13110402G>T" "" "likely benign" "" "0000612364" "0" "30" "10" "13154486" "13154486" "subst" "8.9343E-5" "02329" "OPTN_000029" "g.13154486G>A" "" "" "" "OPTN(NM_001008211.1):c.403G>A (p.E135K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13112486G>A" "" "likely benign" "" "0000612365" "0" "30" "10" "13166021" "13166021" "subst" "0.000589182" "01943" "OPTN_000030" "g.13166021C>A" "" "" "" "OPTN(NM_001008211.1):c.909C>A (p.N303K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13124021C>A" "" "likely benign" "" "0000612367" "0" "30" "10" "13178766" "13178766" "subst" "0.00295699" "02329" "OPTN_000027" "g.13178766G>A" "" "" "" "OPTN(NM_001008211.1):c.1634G>A (p.R545Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13136766G>A" "" "likely benign" "" "0000622356" "0" "30" "10" "13178740" "13178740" "subst" "4.06451E-6" "01943" "OPTN_000031" "g.13178740C>T" "" "" "" "OPTN(NM_001008211.1):c.1613-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13136740C>T" "" "likely benign" "" "0000656448" "0" "30" "10" "13161038" "13161038" "subst" "0.000353469" "01943" "OPTN_000032" "g.13161038A>T" "" "" "" "OPTN(NM_001008211.1):c.777A>T (p.E259D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.13119038A>T" "" "likely benign" "" "0000722738" "0" "30" "10" "13154572" "13154572" "subst" "0.00162024" "02326" "OPTN_000009" "g.13154572A>G" "" "" "" "OPTN(NM_001008211.1):c.489A>G (p.E163=), OPTN(NM_021980.4):c.489A>G (p.E163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722739" "0" "30" "10" "13158257" "13158257" "subst" "0" "02329" "OPTN_000033" "g.13158257G>C" "" "" "" "OPTN(NM_001008211.1):c.553-10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722740" "0" "90" "10" "13167497" "13167498" "del" "0" "02329" "OPTN_000025" "g.13167497_13167498del" "" "" "" "OPTN(NM_001008211.1):c.1078_1079delAA (p.K360Vfs*18)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722741" "0" "30" "10" "13174107" "13174107" "subst" "3.24947E-5" "01943" "OPTN_000034" "g.13174107C>T" "" "" "" "OPTN(NM_001008211.1):c.1442C>T (p.A481V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722742" "0" "50" "10" "13178750" "13178750" "subst" "1.62509E-5" "01943" "OPTN_000035" "g.13178750G>C" "" "" "" "OPTN(NM_001008211.1):c.1618G>C (p.E540Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000765995" "0" "90" "10" "13151282" "13151282" "subst" "0" "00000" "OPTN_000036" "g.13151282C>G" "" "{PMID:Huang 2014:24825108}" "" "" "" "Germline" "" "" "0" "" "" "g.13109282C>G" "" "pathogenic" "" "0000804343" "0" "30" "10" "13154530" "13154530" "subst" "0.000471047" "01943" "OPTN_000037" "g.13154530G>A" "" "" "" "OPTN(NM_001008211.1):c.447G>A (p.R149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804345" "0" "50" "10" "13168026" "13168026" "subst" "1.22048E-5" "02327" "OPTN_000038" "g.13168026T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000822105" "3" "70" "10" "13166076" "13166076" "subst" "0.997591" "00000" "OPTN_000013" "g.13166076A>G" "" "{PMID:Booij-2011:20801516}" "" "c.964A>G" "" "Germline" "" "rs523747" "0" "" "" "" "" "likely pathogenic" "" "0000822106" "0" "70" "10" "13158262" "13158262" "subst" "0.816084" "00000" "OPTN_000010" "g.13158262C>T" "" "{PMID:Booij-2011:20801516}" "" "c.553-5C>T" "" "Germline" "" "rs2244380" "0" "" "" "" "" "likely pathogenic" "" "0000831000" "0" "70" "10" "13154403" "13158390" "del" "0" "01164" "OPTN_000039" "g.13154403_13158390del" "" "" "" "" "ACMG: PVS1, PM2_SUP; out of frame Del Ex 5-6" "Germline" "?" "" "" "" "" "" "VCV000831344.1" "likely pathogenic (dominant)" "ACMG" "0000845162" "3" "90" "10" "13167497" "13167498" "del" "0" "00006" "OPTN_000025" "g.13167497_13167498del" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "delAA del at P.359" "" "Germline" "" "" "0" "" "" "g.13125497_13125498del" "" "pathogenic" "" "0000845163" "3" "90" "10" "13167497" "13167498" "del" "0" "00006" "OPTN_000025" "g.13167497_13167498del" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "delAA del at P.359" "" "Germline" "" "" "0" "" "" "g.13125497_13125498del" "" "pathogenic" "" "0000845164" "1" "90" "10" "13152400" "13152400" "subst" "0.0435919" "00006" "OPTN_000005" "g.13152400T>A" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "M98K" "" "Germline" "" "" "0" "" "" "g.13110400T>A" "" "pathogenic" "" "0000845185" "2" "90" "10" "13164477" "13164477" "del" "0" "00006" "OPTN_000040" "g.13164477del" ">1/309 cases" "{PMID:Jiang 2022:33563768}" "" "G291fs*" "" "Germline" "" "" "0" "" "" "g.13122477del" "" "pathogenic" "" "0000852438" "0" "30" "10" "13151269" "13151269" "subst" "0.000654046" "01943" "OPTN_000041" "g.13151269C>T" "" "" "" "OPTN(NM_001008211.1):c.147C>T (p.T49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852440" "0" "50" "10" "13169907" "13169907" "subst" "8.12183E-5" "01943" "OPTN_000042" "g.13169907A>G" "" "" "" "OPTN(NM_001008211.1):c.1401+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889065" "0" "50" "10" "13164492" "13164492" "subst" "4.06187E-6" "02329" "OPTN_000023" "g.13164492G>C" "" "" "" "OPTN(NM_001008211.1):c.882+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908834" "0" "30" "10" "13152400" "13152400" "subst" "0.0435919" "00000" "OPTN_000005" "g.13152400T>A" "" "{PMID:Mackay 2015:26162006}" "" "OPTN (rs11258194)" "did not segregate in II:7" "Germline" "no" "rs11258194" "0" "" "" "" "" "likely benign" "" "0000949367" "0" "50" "10" "13169842" "13169842" "subst" "0" "02326" "OPTN_000043" "g.13169842T>A" "" "" "" "OPTN(NM_021980.4):c.1340T>A (p.M447K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978956" "0" "90" "10" "13154576" "13154576" "subst" "8.12156E-6" "01804" "OPTN_000019" "g.13154576C>T" "" "" "" "OPTN(NM_001008211.1):c.493C>T (p.Q165*), OPTN(NM_001008212.2):c.493C>T (p.(Gln165Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998201" "0" "30" "10" "13161019" "13161019" "subst" "0" "01804" "OPTN_000044" "g.13161019C>T" "" "" "" "OPTN(NM_001008212.1):c.758C>T (p.(Ala253Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998205" "0" "30" "10" "13164449" "13164449" "subst" "3.24847E-5" "01804" "OPTN_000045" "g.13164449A>C" "" "" "" "OPTN(NM_001008212.1):c.844A>C (p.(Thr282Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037801" "0" "50" "10" "13161015" "13161015" "subst" "0" "01804" "OPTN_000046" "g.13161015G>A" "" "" "" "OPTN(NM_001008212.2):c.754G>A (p.(Val252Ile))" "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 OPTN ## Count = 72 "{{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}}" "0000125812" "00025390" "90" "381" "0" "382" "0" "c.381_382insAG" "r.(?)" "p.(Asp128Argfs*22)" "" "0000125813" "00025390" "90" "381" "0" "382" "0" "c.381_382insAG" "r.(?)" "p.(Asp128Argfs*22)" "" "0000125814" "00025390" "90" "381" "0" "382" "0" "c.381_382insAG" "r.(?)" "p.(Asp128Argfs*22)" "" "0000125815" "00025390" "90" "381" "0" "382" "0" "c.381_382insAG" "r.(?)" "p.(Asp128Argfs*22)" "" "0000246866" "00025390" "10" "964" "0" "964" "0" "c.964=" "r.(=)" "p.(Glu322=)" "" "0000247828" "00025390" "10" "964" "0" "964" "0" "c.964=" "r.(=)" "p.(Glu322=)" "" "0000249855" "00025390" "10" "964" "0" "964" "0" "c.964=" "r.(=)" "p.(Glu322=)" "" "0000249975" "00025390" "30" "489" "0" "489" "0" "c.489A>G" "r.(?)" "p.(Glu163=)" "" "0000250309" "00025390" "30" "1077" "0" "1077" "0" "c.1077A>G" "r.(?)" "p.(Lys359=)" "" "0000250334" "00025390" "30" "404" "0" "404" "0" "c.404A>C" "r.(?)" "p.(Glu135Ala)" "" "0000250604" "00025390" "10" "964" "0" "964" "0" "c.964=" "r.(=)" "p.(Glu322=)" "" "0000252956" "00025390" "10" "964" "0" "964" "0" "c.964=" "r.(=)" "p.(Glu322=)" "" "0000254066" "00025390" "30" "489" "0" "489" "0" "c.489A>G" "r.(?)" "p.(Glu163=)" "" "0000256438" "00025390" "50" "941" "0" "941" "0" "c.941A>T" "r.(?)" "p.(Gln314Leu)" "" "0000293391" "00025390" "10" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Thr34=)" "" "0000293392" "00025390" "30" "293" "0" "293" "0" "c.293T>A" "r.(?)" "p.(Met98Lys)" "" "0000293393" "00025390" "10" "369" "40" "369" "40" "c.369+40del" "r.(=)" "p.(=)" "" "0000293394" "00025390" "10" "553" "-5" "553" "-5" "c.553-5C>T" "r.spl?" "p.?" "" "0000296688" "00025390" "10" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Thr34=)" "" "0000296689" "00025390" "10" "553" "-5" "553" "-5" "c.553-5C>T" "r.spl?" "p.?" "" "0000298764" "00025390" "10" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Thr34=)" "" "0000298765" "00025390" "10" "123" "0" "123" "0" "c.123G>A" "r.(?)" "p.(Leu41=)" "" "0000298766" "00025390" "30" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Leu442=)" "" "0000298767" "00025390" "10" "293" "0" "293" "0" "c.293T>A" "r.(?)" "p.(Met98Lys)" "" "0000298768" "00025390" "30" "398" "0" "398" "0" "c.398G>A" "r.(?)" "p.(Arg133Lys)" "" "0000298769" "00025390" "10" "553" "-5" "553" "-5" "c.553-5C>T" "r.spl?" "p.?" "" "0000298770" "00025390" "30" "891" "0" "891" "0" "c.891C>T" "r.(?)" "p.(Ser297=)" "" "0000304807" "00025390" "10" "102" "0" "102" "0" "c.102G>A" "r.(?)" "p.(Thr34=)" "" "0000304808" "00025390" "90" "1242" "1" "1242" "1" "c.1242+1G>A" "r.spl?" "p.?" "" "0000304809" "00025390" "10" "293" "0" "293" "0" "c.293T>A" "r.(?)" "p.(Met98Lys)" "" "0000304810" "00025390" "10" "553" "-5" "553" "-5" "c.553-5C>T" "r.spl?" "p.?" "" "0000350886" "00025390" "90" "1242" "1" "1242" "1" "c.1242+1G>A" "r.spl?" "p.?" "" "0000467912" "00025390" "90" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Glu478Gly)" "14" "0000539509" "00025390" "10" "402" "0" "402" "0" "c.402C>A" "r.(?)" "p.(Ala134=)" "" "0000539510" "00025390" "50" "476" "0" "476" "0" "c.476G>T" "r.(?)" "p.(Gly159Val)" "" "0000539511" "00025390" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165Ter)" "" "0000539512" "00025390" "30" "553" "-10" "553" "-10" "c.553-10G>A" "r.(=)" "p.(=)" "" "0000539514" "00025390" "30" "627" "-10" "627" "-10" "c.627-10T>C" "r.(=)" "p.(=)" "" "0000539516" "00025390" "50" "882" "5" "882" "5" "c.882+5G>C" "r.spl?" "p.?" "" "0000539518" "00025390" "30" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Ser321=)" "" "0000539523" "00025390" "10" "1612" "10" "1612" "10" "c.1612+10G>A" "r.(=)" "p.(=)" "" "0000612362" "00025390" "10" "293" "0" "293" "0" "c.293T>A" "r.(?)" "p.(Met98Lys)" "" "0000612363" "00025390" "30" "295" "0" "295" "0" "c.295G>T" "r.(?)" "p.(Ala99Ser)" "" "0000612364" "00025390" "30" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Glu135Lys)" "" "0000612365" "00025390" "30" "909" "0" "909" "0" "c.909C>A" "r.(?)" "p.(Asn303Lys)" "" "0000612367" "00025390" "30" "1634" "0" "1634" "0" "c.1634G>A" "r.(?)" "p.(Arg545Gln)" "" "0000622356" "00025390" "30" "1613" "-5" "1613" "-5" "c.1613-5C>T" "r.spl?" "p.?" "" "0000656448" "00025390" "30" "777" "0" "777" "0" "c.777A>T" "r.(?)" "p.(Glu259Asp)" "" "0000722738" "00025390" "30" "489" "0" "489" "0" "c.489A>G" "r.(?)" "p.(Glu163=)" "" "0000722739" "00025390" "30" "553" "-10" "553" "-10" "c.553-10G>C" "r.(=)" "p.(=)" "" "0000722740" "00025390" "90" "1078" "0" "1079" "0" "c.1078_1079del" "r.(?)" "p.(Lys360ValfsTer18)" "" "0000722741" "00025390" "30" "1442" "0" "1442" "0" "c.1442C>T" "r.(?)" "p.(Ala481Val)" "" "0000722742" "00025390" "50" "1618" "0" "1618" "0" "c.1618G>C" "r.(?)" "p.(Glu540Gln)" "" "0000765995" "00025390" "90" "160" "0" "160" "0" "c.160C>G" "r.spl" "p.(Leu54Val)" "" "0000804343" "00025390" "30" "447" "0" "447" "0" "c.447G>A" "r.(?)" "p.(Arg149=)" "" "0000804345" "00025390" "50" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Leu410Pro)" "" "0000822105" "00025390" "70" "964" "0" "964" "0" "c.964A>G" "r.(?)" "p.(Lys322Glu)" "10" "0000822106" "00025390" "70" "553" "-5" "553" "-5" "c.553-5C>T" "r.spl?" "p.?" "6i" "0000831000" "00025390" "70" "370" "-50" "626" "50" "c.370-50_626+50del" "r.(?)" "p.(Asp124Glyfs*4)" "" "0000845162" "00025390" "90" "1078" "0" "1079" "0" "c.1078_1079del" "r.(?)" "p.(Lys360ValfsTer18)" "" "0000845163" "00025390" "90" "1078" "0" "1079" "0" "c.1078_1079del" "r.(?)" "p.(Lys360ValfsTer18)" "" "0000845164" "00025390" "90" "293" "0" "293" "0" "c.293T>A" "r.(?)" "p.(Met98Lys)" "" "0000845185" "00025390" "90" "872" "0" "872" "0" "c.872del" "r.(?)" "p.(Gly291AlafsTer12)" "" "0000852438" "00025390" "30" "147" "0" "147" "0" "c.147C>T" "r.(?)" "p.(Thr49=)" "" "0000852440" "00025390" "50" "1401" "4" "1401" "4" "c.1401+4A>G" "r.spl?" "p.?" "" "0000889065" "00025390" "50" "882" "5" "882" "5" "c.882+5G>C" "r.spl?" "p.?" "" "0000908834" "00025390" "30" "293" "0" "293" "0" "c.293T>A" "r.(?)" "p.(Met98Lys)" "5" "0000949367" "00025390" "50" "1340" "0" "1340" "0" "c.1340T>A" "r.(?)" "p.(Met447Lys)" "" "0000978956" "00025390" "90" "493" "0" "493" "0" "c.493C>T" "r.(?)" "p.(Gln165Ter)" "" "0000998201" "00025390" "30" "758" "0" "758" "0" "c.758C>T" "r.(?)" "p.(Ala253Val)" "" "0000998205" "00025390" "30" "844" "0" "844" "0" "c.844A>C" "r.(?)" "p.(Thr282Pro)" "" "0001037801" "00025390" "50" "754" "0" "754" "0" "c.754G>A" "r.(?)" "p.(Val252Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{variantid}}" "0000078711" "0000125812" "0000078712" "0000125813" "0000078713" "0000125814" "0000078714" "0000125815" "0000227676" "0000467912" "0000365021" "0000765995" "0000392026" "0000822105" "0000392026" "0000822106" "0000398768" "0000831000" "0000408285" "0000845162" "0000408286" "0000845163" "0000408287" "0000845164" "0000408287" "0000845185" "0000429368" "0000908834"