### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = OPA3)
# 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}}"
"OPA3" "optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)" "19" "q13.2-q13.3" "unknown" "NG_013332.1" "UD_132118569533" "" "https://www.LOVD.nl/OPA3" "" "1" "8142" "80207" "606580" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/OPA3_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2011-07-07 00:00:00" "00006" "2020-11-25 19:24:17" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00015050" "OPA3" "transcript variant 1" "001" "NM_001017989.2" "" "NP_001017989.2" "" "" "" "-100" "1832" "543" "46088122" "46031025" "" "0000-00-00 00:00:00" "" ""
"00024169" "OPA3" "transcript variant 2" "002" "NM_025136.3" "" "NP_079412.1" "" "" "" "-100" "7773" "540" "46088122" "46049539" "00008" "2016-09-14 18:35:21" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 9
"{{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"
"00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33"
"01476" "OPA3" "atrophy, optic, type 3, autosomal dominant (OPA-3)" "AD" "165300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01477" "OPA1" "atrophy, optic, type 1 (OPA-1)" "AD" "165500" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01983" "MGCA3" "3-methylglutaconic aciduria, type III (MGCA-3)" "AR" "258501" "" "" "" "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"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"04293" "OPA" "atrophy, optic (OPA)" "" "" "" "" "" "00006" "2015-06-21 20:48:01" "00006" "2018-11-16 15:59:50"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"OPA3" "01476"
"OPA3" "01983"
"OPA3" "04293"
## Individuals ## Do not remove or alter this header ##
## Count = 29
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00036441" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036442" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036443" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00073160" "" "" "" "1" "" "01400" "ATX515" "" "F" "" "France" "" "0" "" "" "" ""
"00088079" "" "" "" "1" "" "01164" "" "OPA1 negative result" "F" "?" "Germany" "" "0" "" "" "" ""
"00088080" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" ""
"00248424" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00292159" "" "" "" "185" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292160" "" "" "" "42" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00296394" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00300623" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" ""
"00304668" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00333353" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat9"
"00362900" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ZD68"
"00363366" "" "" "" "1" "" "00000" "{PMID:Sun 2015:26747767}" "proband" "" "" "China" "" "0" "" "" "" "HM327"
"00372726" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP322"
"00384244" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "13119"
"00416620" "" "" "" "1" "" "00000" "{PMID:Atac 2020:31696227}" "sibling of 71953" "F" "" "" "" "0" "" "" "" "72005"
"00416621" "" "" "" "1" "" "00000" "{PMID:Atac 2020:31696227}" "sibling of 72005" "F" "" "" "" "0" "" "" "" "71953"
"00416622" "" "" "" "1" "" "00000" "{PMID:Atac 2020:31696227}" "father of 72005 and 71953" "M" "" "" "" "0" "" "" "" "71965"
"00444868" "" "" "" "2" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, affected mother/sib" "" "" "China" "" "0" "" "" "" "Fam8"
"00444877" "" "" "" "1" "" "00006" "{PMID:Fan 2020:32883240}" "2-generation family, 1 affected" "" "" "China" "" "0" "" "" "" "Pat3"
"00446468" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam64Pat175"
"00446469" "" "" "00446468" "1" "" "00006" "{PMID:Liu 2023:37337769}" "mother" "F" "" "China" "" "0" "" "" "" "Fam64Pat176"
"00446481" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "family" "M" "" "China" "" "0" "" "" "" "Fam81Pat222"
"00446482" "" "" "00446481" "1" "" "00006" "{PMID:Liu 2023:37337769}" "relative" "F" "" "China" "" "0" "" "" "" "Fam81Pat224"
"00461273" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "M" "" "China" "" "0" "" "" "" "F125P133II-1"
"00461274" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F126P134II-1"
"00461275" "" "" "" "1" "" "00006" "{PMID:Zheng 2024:39423307}" "" "F" "" "China" "" "0" "" "" "" "F127P135II-1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 26
"{{individualid}}" "{{diseaseid}}"
"00036441" "04293"
"00073160" "04201"
"00088079" "00198"
"00088080" "00198"
"00292159" "00198"
"00292160" "00198"
"00296394" "00198"
"00300623" "00198"
"00304668" "00198"
"00333353" "04214"
"00362900" "04214"
"00363366" "04214"
"00372726" "04214"
"00384244" "01477"
"00416620" "04214"
"00416621" "04214"
"00416622" "04214"
"00444868" "00296"
"00444877" "00296"
"00446468" "00296"
"00446469" "00296"
"00446481" "00296"
"00446482" "00000"
"00461273" "04293"
"00461274" "04293"
"00461275" "04293"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00296, 01476, 01477, 01983, 04201, 04214, 04293
## Count = 23
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000053277" "04201" "00073160" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000067585" "00198" "00088079" "01164" "Unknown" "" "Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)" "" "" "" "" "" "57" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000067586" "00198" "00088080" "01164" "Unknown" "" "Optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia); other family members affected" "" "" "" "" "" "35y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000156531" "04293" "00036441" "01164" "Unknown" "" "Optikusatrophie bilateral, Myopie, scotoma bilateral, Neuritis nervi optici bilateral 2006, Meningitis purulenta (1991), Meningitis/Enzephalitis (1995), Asthma bronchiale, suspected myopathy (1998), focal epilepsy (1998), defect of coagulation factor." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" ""
"0000187415" "00198" "00248424" "01164" "Unknown" "" "HP:0000648 (Optic atrophy)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000223808" "00198" "00296394" "01164" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000227934" "00198" "00300623" "01164" "Unknown" "" "Optic atrophy (HP:0000648)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000251540" "04214" "00333353" "00000" "Familial, autosomal dominant" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000258266" "04214" "00362900" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy, cataract" "" ""
"0000258731" "04214" "00363366" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "early onset high myopia" "" ""
"0000268005" "04214" "00372726" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000278029" "01477" "00384244" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Optic papillary dysplasia" "" ""
"0000308340" "04214" "00416620" "00000" "Familial, autosomal recessive" "7y" "2.5y: esotropia, 4y: myopic astigmatism; 7y: hospital due to unexplained low vision despite corrective glasses and amblyopia treatment; cognitively normal, excellent grades at school; best corrected visual acuity right, left eye, distance: 20/100, 20/200; near: 20/80, 20/100; left microesotropia; refraction: myopic astigmatism; neurological and endocrinological assessment: normal; visual acuity stable during the observation period up to 11y; fundus: bilateral severe optic nerve hypoplasia, signs of foveal hypoplasia and abnormal vessel distribution with tortuosity and drag of the retinal vessels towards the temporal side; no sign of microphthalmia or microcornea; optical coherence tomography: significantly reduced thickness of the retinal nerve fiber layer as well as the ganglion cell and inner plexiform layers; grade 1 foveal hypoplasia with absent extrusion of plexiform layers and a shallow foveal pit; cerebral magnetic resonance imaging: severely hypoplastic optic nerves within small optic nerve sheaths; no abnormalities of midline structures or other brain areasmeasurements right/left eye: total macular volume, mm3: not available/7.53; central macular thickness, um: not available/284; ganglion cell layer and the inner plexiform layer, mm3: not available/not available; retinal nerve fiber layer thickness, um: not available/not available; optic nerve head diameter: not available (hypoplasia)/not available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic nerve hypoplasia" "" "" ""
"0000308341" "04214" "00416621" "00000" "Familial, autosomal recessive" "3y" "2y: esotropia; 3y: reduced visual function; cognitively normal, excellent grades at school during the observation period; best corrected visual acuity right, left eye,near: 20/200, 20/100; orthoptic assessment: right microesotropia with eccentric fixation superior to the presumed foveolar; refraction: hyperopic astigmatism; neurological and endocrinological assessment: normal; visual acuity stable during the observation period up to 6y; fundus: bilateral severe optic nerve hypoplasia, signs of foveal hypoplasia and abnormal vessel distribution with tortuosity and drag of the retinal vessels towards the temporal side; peripheral retina: incomplete vascularization of the far peripheral retina, without visible signs of neovascularization; no sign of microphthalmia or microcornea; optical coherence tomography: significantly reduced thickness of the retinal nerve fiber layer as well as the ganglion cell and inner plexiform layers; grade 2 hypoplasia with absent extrusion of plexiform layers and absent foveal pitmeasurements right/left eye: total macular volume, mm3: 7.28/not available; central macular thickness, um: 278/not available; ganglion cell layer and the inner plexiform layer, mm3: 0.33/not available; retinal nerve fiber layer thickness, um: 28/not available; optic nerve head diameter: not available (hypoplasia)/not available" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic nerve hypoplasia" "" "" ""
"0000308342" "04214" "00416622" "00000" "Familial, autosomal recessive" "" "grade 1 foveal hypoplasia with absent extrusion of plexiform layers and a shallow foveal pitmeasurements right/left eye: total macular volume, mm3: 9.32/9.34; central macular thickness, um: 300/302; ganglion cell layer and the inner plexiform layer, mm3: 0.85/0.84; retinal nerve fiber layer thickness, um: 104/104; optic nerve head diameter: 1589 x 1754/1635 x 1819" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic nerve hypoplasia" "" "" ""
"0000334118" "00296" "00444868" "00006" "Unknown" "" "binocular, perinuclear/coralliform" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA3" "cataract" "" ""
"0000334127" "00296" "00444877" "00006" "Unknown" "" "binocular, all white" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "cataract" "" ""
"0000335688" "00296" "00446468" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA3" "congenital catarct" "" ""
"0000335689" "00296" "00446469" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA3" "congenital catarct" "" ""
"0000335701" "00296" "00446481" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "OPA3" "congenital catarct" "" ""
"0000348773" "04293" "00461273" "00006" "Familial, autosomal dominant" "6y" "see paper; ..., congenital onset; best corrected visual acuity (first visit) OD 0.07/OS 0.05; fundus oculi (first visit) OD diffuse pale optic disc, ARV, NMP/OS diffuse pale optic disc, ARV, NMP; flash visual evoked potentials PL, DA (OD/OS); electrophysiology severely reduced (rod/cone);" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" ""
"0000348774" "04293" "00461274" "00006" "Familial, autosomal dominant" "31y" "see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.05/OS 0.05; fundus oculi (first visit) OD diffuse pale optic disc/OS diffuse pale optic disc; OCT OD diffuse thinning/OS diffuse thinning;" "infant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" ""
"0000348775" "04293" "00461275" "00006" "Familial, autosomal dominant" "8y" "see paper; ..., insidous onset; best corrected visual acuity (first visit) OD 0.12/OS 0.12; fundus oculi (first visit) OD temporal pallor/OS temporal pallor;" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "optic atrophy" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 29
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000036511" "00036441" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036512" "00036442" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036513" "00036443" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000073319" "00073160" "1" "01400" "01400" "2016-06-08 16:02:56" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000088219" "00088079" "1" "01164" "01164" "2014-10-15 11:03:55" "" "" "SEQ" "DNA" "" ""
"0000088220" "00088080" "1" "01164" "01164" "2014-10-15 11:07:21" "" "" "SEQ" "DNA" "" ""
"0000249528" "00248424" "1" "01164" "01164" "2019-07-23 18:22:51" "" "" "SEQ-NG-S" "DNA" "" ""
"0000293327" "00292159" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000293328" "00292160" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000297505" "00296394" "1" "01164" "01164" "2020-04-06 09:48:08" "" "" "SEQ-NG-S" "DNA" "" ""
"0000301744" "00300623" "1" "01164" "01164" "2020-05-04 10:10:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000305797" "00304668" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000334578" "00333353" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel"
"0000364128" "00362900" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES"
"0000364594" "00363366" "1" "00000" "00006" "2021-04-26 18:22:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000373958" "00372726" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000385469" "00384244" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000417902" "00416620" "1" "00000" "03840" "2022-09-07 10:25:25" "" "" "SEQ-NG-S;SEQ" "DNA" "" "whole-exome sequencing"
"0000417903" "00416621" "1" "00000" "03840" "2022-09-07 10:25:25" "" "" "SEQ-NG-S;SEQ" "DNA" "" "whole-exome sequencing"
"0000417904" "00416622" "1" "00000" "03840" "2022-09-07 10:25:25" "" "" "SEQ-NG-S;SEQ" "DNA" "" "whole-exome sequencing"
"0000446437" "00444868" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000446446" "00444877" "1" "00006" "00006" "2023-12-28 14:50:54" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000448041" "00446468" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000448042" "00446469" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000448054" "00446481" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000448055" "00446482" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000462905" "00461273" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462906" "00461274" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000462907" "00461275" "1" "00006" "00006" "2025-01-31 10:20:27" "" "" "SEQ-NG" "DNA" "" "gene panel"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}" "{{geneid}}"
"0000036511" "OPA3"
"0000036512" "OPA3"
"0000036513" "OPA3"
"0000073319" "OPA3"
"0000088219" "OPA3"
"0000088220" "OPA3"
"0000334578" "ROM1"
"0000364128" "OPA3"
"0000364594" "OPA3"
"0000385469" "OPA3"
"0000417902" "ATOH7"
"0000417903" "ATOH7"
"0000417904" "ATOH7"
## 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 = 52
"{{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}}"
"0000063636" "1" "50" "19" "46087812" "46087812" "subst" "0" "01164" "OPA3_000004" "g.46087812C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45584554C>G" "" "VUS" ""
"0000063637" "1" "10" "19" "46057081" "46057081" "subst" "0.709339" "01164" "OPA3_000001" "g.46057081A>G" "" "" "" "NM_025136.3:c.231T>C (Ala77=)" "" "Germline" "" "rs3826860" "0" "" "" "g.45553823A>G" "" "benign" ""
"0000063638" "1" "10" "19" "46088097" "46088097" "subst" "0" "01164" "OPA3_000002" "g.46088097C>T" "" "" "" "" "" "Germline" "" "rs45598532" "0" "" "" "g.45584839C>T" "" "benign" ""
"0000116955" "0" "30" "19" "46032514" "46032514" "subst" "4.09802E-6" "01400" "OPA3_000003" "g.46032514G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45529256G>A" "" "likely benign" ""
"0000140633" "0" "10" "19" "46057081" "46057081" "subst" "0.709339" "01164" "OPA3_000001" "g.46057081A>G" "MAF A=0.233/1167" "" "" "" "MAF/MinorAlleleCount:\tA=0.233/1167" "Unknown" "" "rs3826860" "0" "" "" "g.45553823A>G" "" "benign" ""
"0000140634" "3" "10" "19" "46057081" "46057081" "subst" "0.709339" "01164" "OPA3_000001" "g.46057081A>G" "MAF A=0.233/1167" "" "" "" "MAF/MinorAlleleCount:\tA=0.233/1167" "Unknown" "" "rs3826860" "0" "" "" "g.45553823A>G" "" "benign" ""
"0000293372" "0" "50" "19" "46057071" "46057071" "subst" "2.06034E-5" "02330" "OPA3_000008" "g.46057071C>T" "" "" "" "OPA3(NM_025136.3):c.241G>A (p.A81T), OPA3(NM_025136.4):c.241G>A (p.A81T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45553813C>T" "" "VUS" ""
"0000293373" "0" "10" "19" "46057063" "46057063" "subst" "0.000123753" "02330" "OPA3_000007" "g.46057063C>G" "" "" "" "OPA3(NM_025136.4):c.249G>C (p.L83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45553805C>G" "" "benign" ""
"0000293374" "0" "10" "19" "46032338" "46032338" "subst" "0.000155183" "02330" "OPA3_000005" "g.46032338T>A" "" "" "" "OPA3(NM_001017989.3):c.519A>T (p.P173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45529080T>A" "" "benign" ""
"0000304786" "0" "30" "19" "46032673" "46032673" "subst" "0.000536721" "01943" "OPA3_000006" "g.46032673C>T" "" "" "" "OPA3(NM_001017989.2):c.184G>A (p.G62S), OPA3(NM_001017989.3):c.184G>A (p.G62S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45529415C>T" "" "likely benign" ""
"0000338139" "0" "10" "19" "46088060" "46088060" "subst" "0.023477" "02327" "OPA3_000010" "g.46088060T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45584802T>C" "" "benign" ""
"0000338140" "0" "10" "19" "46088097" "46088097" "subst" "0" "02327" "OPA3_000002" "g.46088097C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45584839C>T" "" "benign" ""
"0000340121" "0" "10" "19" "46057081" "46057081" "subst" "0.709339" "02327" "OPA3_000001" "g.46057081A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45553823A>G" "" "benign" ""
"0000567751" "0" "50" "19" "46032414" "46032414" "del" "0" "02330" "OPA3_000011" "g.46032414del" "" "" "" "OPA3(NM_001017989.2):c.445delC (p.L149Wfs*67), OPA3(NM_001017989.3):c.445delC (p.L149Wfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45529156del" "" "VUS" ""
"0000567752" "0" "10" "19" "46056900" "46056900" "subst" "0.00108589" "02330" "OPA3_000012" "g.46056900C>T" "" "" "" "OPA3(NM_025136.4):c.412G>A (p.A138T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45553642C>T" "" "benign" ""
"0000567753" "0" "70" "19" "46056975" "46056992" "del" "0" "02327" "OPA3_000013" "g.46056975_46056992del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45553717_45553734del" "" "likely pathogenic" ""
"0000567754" "0" "30" "19" "46057057" "46057057" "subst" "0" "01943" "OPA3_000014" "g.46057057G>A" "" "" "" "OPA3(NM_025136.3):c.255C>T (p.G85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45553799G>A" "" "likely benign" ""
"0000567755" "0" "30" "19" "46057176" "46057176" "subst" "9.6759E-5" "01943" "OPA3_000015" "g.46057176G>A" "" "" "" "OPA3(NM_025136.3):c.143-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45553918G>A" "" "likely benign" ""
"0000578319" "0" "50" "19" "46056960" "46056960" "subst" "0" "01164" "OPA3_000016" "g.46056960C>T" "" "" "" "" "ACMG grading: PM2,BP4" "Germline" "" "" "0" "" "" "g.45553702C>T" "" "VUS" "ACMG"
"0000624038" "0" "50" "19" "46057071" "46057071" "subst" "2.06034E-5" "01943" "OPA3_000008" "g.46057071C>T" "" "" "" "OPA3(NM_025136.3):c.241G>A (p.A81T), OPA3(NM_025136.4):c.241G>A (p.A81T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45553813C>T" "" "VUS" ""
"0000650016" "1" "30" "19" "46053050" "46053050" "subst" "0" "03575" "OPA3_000017" "g.46053050C>T" "185/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "185 heterozygous; {DB:CLININrs73568973}" "Germline" "" "rs73568973" "0" "" "" "g.45549792C>T" "" "likely benign" ""
"0000650017" "1" "30" "19" "46054936" "46054936" "subst" "0" "03575" "OPA3_000018" "g.46054936G>A" "42/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "42 heterozygous, no homozygous; {DB:CLININrs74717111}" "Germline" "" "rs74717111" "0" "" "" "g.45551678G>A" "" "likely benign" ""
"0000660107" "0" "50" "19" "46057004" "46057004" "subst" "0" "01164" "OPA3_000019" "g.46057004C>T" "" "" "" "" "ACMG grading: PM2,PM5,PP3; Weisschuh et al. 2016. PLoS 11: e0145951" "Germline" "" "" "0" "" "" "g.45553746C>T" "" "VUS" "ACMG"
"0000664812" "0" "50" "19" "46087877" "46087877" "subst" "3.25111E-5" "01164" "OPA3_000020" "g.46087877T>C" "" "" "" "" "" "Germline" "" "rs765495449" "0" "" "" "g.45584619T>C" "" "VUS" ""
"0000664813" "0" "50" "19" "46087974" "46087974" "subst" "4.06286E-6" "01164" "OPA3_000021" "g.46087974G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.45584716G>A" "" "VUS" ""
"0000669485" "3" "30" "19" "46053050" "46053050" "subst" "0" "03575" "OPA3_000017" "g.46053050C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs73568973}" "Germline" "" "rs73568973" "0" "" "" "g.45549792C>T" "" "likely benign" ""
"0000681451" "0" "50" "19" "46032399" "46032399" "subst" "4.28115E-5" "02325" "OPA3_000022" "g.46032399C>T" "" "" "" "OPA3(NM_001017989.3):c.458G>A (p.R153H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692841" "0" "50" "19" "46032564" "46032564" "subst" "4.07884E-6" "02325" "OPA3_000023" "g.46032564A>G" "" "" "" "OPA3(NM_001017989.3):c.293T>C (p.M98T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000732454" "0" "50" "19" "46087888" "46087888" "subst" "4.06369E-6" "00000" "OPA3_000024" "g.46087888C>T" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.45584630C>T" "" "VUS" ""
"0000764890" "1" "70" "19" "46032549" "46032549" "subst" "0" "00000" "OPA3_000025" "g.46032549C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "308G>C (R103H)" "" "Germline" "" "" "0" "" "" "g.45529291C>T" "" "likely pathogenic (dominant)" ""
"0000765459" "1" "70" "19" "46032348" "46032348" "subst" "4.30052E-6" "00000" "OPA3_000026" "g.46032348G>A" "1/596 chromosomes" "{PMID:Sun 2015:26747767}" "" "" "not in 624 control chromosomes" "Germline" "" "" "0" "" "" "g.45529090G>A" "" "likely pathogenic" ""
"0000784653" "0" "50" "19" "46032472" "46032472" "subst" "0" "00000" "OPA3_000027" "g.46032472A>C" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "0/1266 control chromosomes" "Germline" "" "" "0" "" "" "g.45529214A>C" "" "VUS" ""
"0000808943" "0" "90" "19" "46032414" "46032414" "del" "0" "01943" "OPA3_000011" "g.46032414del" "" "" "" "OPA3(NM_001017989.2):c.445delC (p.L149Wfs*67), OPA3(NM_001017989.3):c.445delC (p.L149Wfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000808944" "0" "30" "19" "46032443" "46032443" "subst" "0.000190186" "01943" "OPA3_000028" "g.46032443C>T" "" "" "" "OPA3(NM_001017989.2):c.414G>A (p.A138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000808945" "0" "30" "19" "46032673" "46032673" "subst" "0.000536721" "02330" "OPA3_000006" "g.46032673C>T" "" "" "" "OPA3(NM_001017989.2):c.184G>A (p.G62S), OPA3(NM_001017989.3):c.184G>A (p.G62S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000812530" "0" "70" "19" "46087900" "46087900" "subst" "6.90636E-5" "00000" "OPA3_000029" "g.46087900G>C" "" "{PMID:Wang 2019:31106028}" "" "c.123G>C, p.(Ile41Met)" "different transcript,error in annotation: NM_025136.3(OPA3)c.123G>C instead of C>G, heterozygous" "Germline" "yes" "" "0" "" "" "g.45584642G>C" "" "likely pathogenic" ""
"0000877645" "11" "70" "19" "46087980" "46087980" "subst" "4.0623E-6" "00000" "OPA3_000030" "g.46087980C>G" "" "{PMID:Atac 2020:31696227}" "" "OPA3 c.43G>C; p.(Gly15Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.45584722C>G" "" "likely pathogenic" ""
"0000877647" "11" "70" "19" "46087980" "46087980" "subst" "4.0623E-6" "00000" "OPA3_000030" "g.46087980C>G" "" "{PMID:Atac 2020:31696227}" "" "OPA3 c.43G>C; p.(Gly15Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.45584722C>G" "" "likely pathogenic" ""
"0000877648" "0" "70" "19" "46087980" "46087980" "subst" "4.0623E-6" "00000" "OPA3_000030" "g.46087980C>G" "" "{PMID:Atac 2020:31696227}" "" "OPA3 c.43G>C; p.(Gly15Arg)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.45584722C>G" "" "likely pathogenic" ""
"0000895057" "0" "50" "19" "46056935" "46056935" "subst" "0" "02325" "OPA3_000031" "g.46056935A>G" "" "" "" "OPA3(NM_025136.4):c.377T>C (p.V126A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000931075" "0" "90" "19" "46032414" "46032414" "del" "0" "02325" "OPA3_000011" "g.46032414del" "" "" "" "OPA3(NM_001017989.2):c.445delC (p.L149Wfs*67), OPA3(NM_001017989.3):c.445delC (p.L149Wfs*67)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000954780" "21" "70" "19" "46087900" "46087900" "subst" "6.90636E-5" "00006" "OPA3_000029" "g.46087900G>C" "" "{PMID:Fan 2020:32883240}" "" "" "" "Germline" "yes" "" "0" "" "" "g.45584642G>C" "" "likely pathogenic (dominant)" ""
"0000954789" "21" "90" "19" "46087900" "46087900" "subst" "6.90636E-5" "00006" "OPA3_000029" "g.46087900G>C" "" "{PMID:Fan 2020:32883240}" "" "" "variant in unaffected mother" "Germline" "" "" "0" "" "" "g.45584642G>C" "" "pathogenic" ""
"0000957421" "21" "70" "19" "46087900" "46087900" "subst" "6.90636E-5" "00006" "OPA3_000029" "g.46087900G>C" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "rs763083098" "0" "" "" "g.45584642G>C" "rs763083098" "likely pathogenic (dominant)" ""
"0000957422" "0" "70" "19" "46087900" "46087900" "subst" "6.90636E-5" "00006" "OPA3_000029" "g.46087900G>C" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "yes" "rs763083098" "0" "" "" "g.45584642G>C" "rs763083098" "likely pathogenic (dominant)" ""
"0000957434" "0" "70" "19" "46087900" "46087900" "subst" "6.90636E-5" "00006" "OPA3_000029" "g.46087900G>C" "" "{PMID:Liu 2023:37337769}" "" "" "incomplete penetrance" "Germline" "no" "rs763083098" "0" "" "" "g.45584642G>C" "rs763083098" "likely pathogenic (!)" ""
"0000957435" "0" "70" "19" "46087900" "46087900" "subst" "6.90636E-5" "00006" "OPA3_000029" "g.46087900G>C" "" "{PMID:Liu 2023:37337769}" "" "" "incomplete penetrance" "Germline" "no" "rs763083098" "0" "" "" "g.45584642G>C" "rs763083098" "likely pathogenic (!)" ""
"0001004889" "0" "30" "19" "46027875" "46027875" "subst" "2.43657E-5" "01804" "OPA3_000032" "g.46027875C>T" "" "" "" "VASP(NM_003370.3):c.1004C>T (p.(Thr335Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001022492" "1" "90" "19" "46057004" "46057004" "subst" "0" "00006" "OPA3_000019" "g.46057004C>T" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PP1, PP2, PP3, PP4," "Germline" "" "" "0" "" "" "g.45553746C>T" "" "pathogenic" ""
"0001022493" "1" "90" "19" "46057130" "46057130" "subst" "0" "00006" "OPA3_000034" "g.46057130A>G" "" "{PMID:Zheng 2024:39423307}" "" "" "ACMG PS4, PM2, PM6, PP2, PP3, PP4" "Germline" "" "" "0" "" "" "g.45553872A>G" "" "pathogenic" ""
"0001022494" "1" "90" "19" "46032347" "46032347" "dup" "0" "00006" "OPA3_000033" "g.46032347dup" "" "{PMID:Zheng 2024:39423307}" "" "NM_025136.4:c.510dup" "ACMG PS4, PM2, PM4, PP4" "Germline" "" "" "0" "" "" "g.45529089dup" "" "pathogenic" ""
"0001043043" "0" "90" "19" "46056999" "46056999" "subst" "0" "02327" "OPA3_000035" "g.46056999G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes OPA3
## Count = 80
"{{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}}"
"0000063636" "00015050" "50" "142" "69" "142" "69" "c.142+69G>C" "r.(?)" "p.(=)" "1i"
"0000063637" "00015050" "10" "143" "-24367" "143" "-24367" "c.143-24367T>C" "r.(?)" "p.(=)" "1i"
"0000063638" "00015050" "10" "-75" "0" "-75" "0" "c.-75G>A" "r.(?)" "p.(=)" "1"
"0000116955" "00015050" "30" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Arg115*)" "2"
"0000140633" "00024169" "10" "231" "0" "231" "0" "c.231T>C" "r.(=)" "p.(=)" "2"
"0000140634" "00024169" "10" "231" "0" "231" "0" "c.231T>C" "r.(=)" "p.(=)" "2"
"0000293372" "00024169" "50" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Ala81Thr)" ""
"0000293372" "00015050" "50" "143" "-24357" "143" "-24357" "c.143-24357G>A" "r.(=)" "p.(=)" ""
"0000293373" "00024169" "10" "249" "0" "249" "0" "c.249G>C" "r.(?)" "p.(Leu83=)" ""
"0000293373" "00015050" "10" "143" "-24349" "143" "-24349" "c.143-24349G>C" "r.(=)" "p.(=)" ""
"0000293374" "00024169" "10" "24974" "0" "24974" "0" "c.*24434A>T" "r.(=)" "p.(=)" ""
"0000293374" "00015050" "10" "519" "0" "519" "0" "c.519A>T" "r.(?)" "p.(Pro173=)" ""
"0000304786" "00024169" "30" "24639" "0" "24639" "0" "c.*24099G>A" "r.(=)" "p.(=)" ""
"0000304786" "00015050" "30" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Gly62Ser)" ""
"0000338139" "00024169" "10" "-38" "0" "-38" "0" "c.-38A>G" "r.(?)" "p.(=)" ""
"0000338139" "00015050" "10" "-38" "0" "-38" "0" "c.-38A>G" "r.(?)" "p.(=)" ""
"0000338140" "00024169" "10" "-75" "0" "-75" "0" "c.-75G>A" "r.(?)" "p.(=)" ""
"0000338140" "00015050" "10" "-75" "0" "-75" "0" "c.-75G>A" "r.(?)" "p.(=)" ""
"0000340121" "00024169" "10" "231" "0" "231" "0" "c.231T>C" "r.(?)" "p.(Ala77=)" ""
"0000340121" "00015050" "10" "143" "-24367" "143" "-24367" "c.143-24367T>C" "r.(=)" "p.(=)" ""
"0000567751" "00024169" "50" "24900" "0" "24900" "0" "c.*24360del" "r.(?)" "p.(=)" ""
"0000567751" "00015050" "50" "445" "0" "445" "0" "c.445del" "r.(?)" "p.(Leu149TrpfsTer67)" ""
"0000567752" "00024169" "10" "412" "0" "412" "0" "c.412G>A" "r.(?)" "p.(Ala138Thr)" ""
"0000567752" "00015050" "10" "143" "-24186" "143" "-24186" "c.143-24186G>A" "r.(=)" "p.(=)" ""
"0000567753" "00024169" "70" "322" "0" "339" "0" "c.322_339del" "r.(?)" "p.(Gln108_Glu113del)" ""
"0000567753" "00015050" "70" "143" "-24276" "143" "-24259" "c.143-24276_143-24259del" "r.(=)" "p.(=)" ""
"0000567754" "00024169" "30" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(Gly85=)" ""
"0000567754" "00015050" "30" "143" "-24343" "143" "-24343" "c.143-24343C>T" "r.(=)" "p.(=)" ""
"0000567755" "00024169" "30" "143" "-7" "143" "-7" "c.143-7C>T" "r.(=)" "p.(=)" ""
"0000567755" "00015050" "30" "143" "-24462" "143" "-24462" "c.143-24462C>T" "r.(=)" "p.(=)" ""
"0000578319" "00024169" "50" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.Ala118Thr" ""
"0000624038" "00024169" "50" "241" "0" "241" "0" "c.241G>A" "r.(?)" "p.(Ala81Thr)" ""
"0000624038" "00015050" "50" "143" "-24357" "143" "-24357" "c.143-24357G>A" "r.(=)" "p.(=)" ""
"0000650016" "00024169" "30" "4262" "0" "4262" "0" "c.*3722G>A" "r.(=)" "p.(=)" ""
"0000650016" "00015050" "30" "143" "-20336" "143" "-20336" "c.143-20336G>A" "r.(=)" "p.(=)" ""
"0000650017" "00024169" "30" "2376" "0" "2376" "0" "c.*1836C>T" "r.(=)" "p.(=)" ""
"0000650017" "00015050" "30" "143" "-22222" "143" "-22222" "c.143-22222C>T" "r.(=)" "p.(=)" ""
"0000660107" "00024169" "50" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000664812" "00024169" "50" "142" "4" "142" "4" "c.142+4A>G" "r.(?)" "p.(?)" ""
"0000664813" "00024169" "50" "49" "0" "49" "0" "c.49C>T" "r.(?)" "p.(Arg17Trp)" ""
"0000669485" "00024169" "30" "4262" "0" "4262" "0" "c.*3722G>A" "r.(=)" "p.(=)" ""
"0000669485" "00015050" "30" "143" "-20336" "143" "-20336" "c.143-20336G>A" "r.(=)" "p.(=)" ""
"0000681451" "00024169" "50" "24913" "0" "24913" "0" "c.*24373G>A" "r.(=)" "p.(=)" ""
"0000681451" "00015050" "50" "458" "0" "458" "0" "c.458G>A" "r.(?)" "p.(Arg153His)" ""
"0000692841" "00024169" "50" "24748" "0" "24748" "0" "c.*24208T>C" "r.(=)" "p.(=)" ""
"0000692841" "00015050" "50" "293" "0" "293" "0" "c.293T>C" "r.(?)" "p.(Met98Thr)" ""
"0000732454" "00015050" "50" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Pro45=)" ""
"0000764890" "00015050" "70" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0000765459" "00015050" "70" "509" "0" "509" "0" "c.509C>T" "r.(?)" "p.(Pro170Leu)" ""
"0000784653" "00015050" "50" "385" "0" "385" "0" "c.385T>G" "r.(?)" "p.(Leu129Val)" ""
"0000808943" "00024169" "90" "24900" "0" "24900" "0" "c.*24360del" "r.(?)" "p.(=)" ""
"0000808943" "00015050" "90" "445" "0" "445" "0" "c.445del" "r.(?)" "p.(Leu149TrpfsTer67)" ""
"0000808944" "00024169" "30" "24869" "0" "24869" "0" "c.*24329G>A" "r.(=)" "p.(=)" ""
"0000808944" "00015050" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Ala138=)" ""
"0000808945" "00024169" "30" "24639" "0" "24639" "0" "c.*24099G>A" "r.(=)" "p.(=)" ""
"0000808945" "00015050" "30" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Gly62Ser)" ""
"0000812530" "00015050" "70" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Ile41Met)" ""
"0000877645" "00024169" "70" "43" "0" "43" "0" "c.43G>C" "r.(?)" "p.(Gly15Arg)" ""
"0000877645" "00015050" "70" "43" "0" "43" "0" "c.43G>C" "r.(?)" "p.(Gly15Arg)" ""
"0000877647" "00024169" "70" "43" "0" "43" "0" "c.43G>C" "r.(?)" "p.(Gly15Arg)" ""
"0000877647" "00015050" "70" "43" "0" "43" "0" "c.43G>C" "r.(?)" "p.(Gly15Arg)" ""
"0000877648" "00024169" "70" "43" "0" "43" "0" "c.43G>C" "r.(?)" "p.(Gly15Arg)" ""
"0000877648" "00015050" "70" "43" "0" "43" "0" "c.43G>C" "r.(?)" "p.(Gly15Arg)" ""
"0000895057" "00024169" "50" "377" "0" "377" "0" "c.377T>C" "r.(?)" "p.(Val126Ala)" ""
"0000895057" "00015050" "50" "143" "-24221" "143" "-24221" "c.143-24221T>C" "r.(=)" "p.(=)" ""
"0000931075" "00024169" "90" "24900" "0" "24900" "0" "c.*24360del" "r.(?)" "p.(=)" ""
"0000931075" "00015050" "90" "445" "0" "445" "0" "c.445del" "r.(?)" "p.(Leu149TrpfsTer67)" ""
"0000954780" "00015050" "70" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Ile41Met)" ""
"0000954789" "00015050" "90" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Ile41Met)" ""
"0000957421" "00015050" "70" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Ile41Met)" "1"
"0000957422" "00015050" "70" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Ile41Met)" "1"
"0000957434" "00015050" "70" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Ile41Met)" "1"
"0000957435" "00015050" "70" "123" "0" "123" "0" "c.123C>G" "r.(?)" "p.(Ile41Met)" "1"
"0001004889" "00024169" "30" "29437" "0" "29437" "0" "c.*28897G>A" "r.(=)" "p.(=)" ""
"0001004889" "00015050" "30" "4982" "0" "4982" "0" "c.*4439G>A" "r.(=)" "p.(=)" ""
"0001022492" "00024169" "90" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103His)" ""
"0001022493" "00024169" "90" "182" "0" "182" "0" "c.182T>C" "r.(?)" "p.(Met61Thr)" ""
"0001022494" "00024169" "90" "510" "0" "510" "0" "c.510dup" "r.(?)" "p.(Ala171CysfsTer62)" ""
"0001043043" "00024169" "90" "313" "0" "313" "0" "c.313C>G" "r.(?)" "p.(Gln105Glu)" ""
"0001043043" "00015050" "90" "143" "-24285" "143" "-24285" "c.143-24285C>G" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 30
"{{screeningid}}" "{{variantid}}"
"0000036511" "0000063636"
"0000036512" "0000063637"
"0000036513" "0000063638"
"0000073319" "0000116955"
"0000088219" "0000140633"
"0000088220" "0000140634"
"0000249528" "0000578319"
"0000293327" "0000650016"
"0000293328" "0000650017"
"0000297505" "0000660107"
"0000301744" "0000664812"
"0000301744" "0000664813"
"0000305797" "0000669485"
"0000334578" "0000732454"
"0000364128" "0000764890"
"0000364594" "0000765459"
"0000373958" "0000784653"
"0000385469" "0000812530"
"0000417902" "0000877645"
"0000417903" "0000877647"
"0000417904" "0000877648"
"0000446437" "0000954780"
"0000446446" "0000954789"
"0000448041" "0000957421"
"0000448042" "0000957422"
"0000448054" "0000957434"
"0000448055" "0000957435"
"0000462905" "0001022492"
"0000462906" "0001022493"
"0000462907" "0001022494"