### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = EMC1)
# 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}}"
"EMC1" "ER membrane protein complex subunit 1" "1" "p36.13" "unknown" "NG_032948.1" "UD_136019331130" "" "https://www.LOVD.nl/EMC1" "" "1" "28957" "23065" "616846" "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/EMC1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-09-24 00:00:00" "00006" "2020-11-13 14:33:54" "00000" "2025-11-01 13:22:20"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00007061" "EMC1" "transcript variant 1" "004" "NM_015047.2" "" "NP_055862.1" "" "" "" "-50" "6621" "2982" "19578053" "19542158" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"04213" "COD" "dystrophy, cone (COD)" "" "" "" "" "" "00006" "2015-02-27 19:22:18" "" ""
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33"
"05260" "CAVIPMR" "atrophy, cerebellar, visual impairment, psychomotor retardation (CAVIPMR)" "AR" "616875" "" "" "" "00006" "2017-04-11 14:50:42" "00006" "2020-11-13 14:32:57"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"EMC1" "05260"
## Individuals ## Do not remove or alter this header ##
## Count = 55
"{{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}}"
"00059791" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" ""
"00065235" "" "" "" "1" "" "01606" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "?" "" ">04y" "0" "" "" "European" "26942288 F1 A3"
"00065236" "" "" "" "4" "" "01606" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "3-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carrier parents" "M" "yes" "Turkey" ">13y" "0" "" "" "" "26942288 F2 BAB3445"
"00065237" "" "" "00065236" "1" "" "01606" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "brother" "M" "yes" "Turkey" ">05y" "0" "" "" "" "26942288 F2 BAB3446"
"00065238" "" "" "00065236" "1" "" "01606" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "niece" "F" "yes" "Turkey" ">03y" "0" "" "" "" "26942288 F2 BAB4742"
"00065240" "" "" "" "2" "" "01606" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "2-generation family, 2 affected brotherss, unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" ">10y" "0" "" "" "" "26942288 F3 BAB6896"
"00065241" "" "" "00065240" "1" "" "01606" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "brother" "M" "yes" "Saudi Arabia" ">12y" "0" "" "" "" "26942288 F3 BAB6897"
"00065242" "" "" "" "1" "" "01606" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" ">12y" "0" "" "" "" "26942288 F4 BH14387_1"
"00103210" "" "" "" "1" "" "01944" "" "" "M" "yes" "India" "" "0" "yes" "" "Indian" "proband"
"00103891" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH4387_1"
"00143915" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" ""
"00144156" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" ""
"00231855" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231856" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231857" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231858" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231859" "" "" "" "9" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231860" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231861" "" "" "" "14" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231862" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231863" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231864" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231865" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231866" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231867" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231868" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231869" "" "" "" "230" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231870" "" "" "" "450" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231871" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231872" "" "" "" "141" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231873" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231874" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231875" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231876" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231877" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231878" "" "" "" "451" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231879" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00231880" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233586" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233587" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233588" "" "" "" "26" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233589" "" "" "" "675" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233590" "" "" "" "9" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233591" "" "" "" "675" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00324526" "" "" "" "1" "" "03960" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Japan" ">20y" "0" "" "" "" "patient"
"00358974" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71749"
"00375414" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#006"
"00375416" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#008"
"00375430" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#024"
"00377531" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE139" "M" "no" "Japan" "" "0" "" "" "Asian" "EYE139"
"00377533" "" "" "" "1" "" "00000" "{PMID:Hosono 2018:29844330}" "proband, family EYE152" "F" "no" "Japan" "" "0" "" "" "Asian" "EYE152"
"00399788" "" "" "" "1" "" "00000" "{PMID:Bhatia 2019:30851773}" "" "F" "yes" "" "" "0" "" "" "India" "IV:1"
"00410967" "" "" "" "1" "" "00000" "{PMID:Geetha-2018:29271071}" "" "F" "yes" "(India)" "" "0" "" "" "" "IV.1"
"00410968" "" "" "" "1" "" "00000" "{PMID:Cabet-2020:32092440}" "" "M" "no" "(France)" "" "0" "" "" "" "II.2"
"00413461" "" "" "" "1" "" "01399" "" "" "F" "no" "New Zealand" "07y" "" "" "" "NZ Maori/Samoan" "FamHXPatI"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 55
"{{individualid}}" "{{diseaseid}}"
"00059791" "00112"
"00065235" "05162"
"00065236" "05162"
"00065237" "05162"
"00065238" "05162"
"00065240" "05162"
"00065241" "05162"
"00065242" "05162"
"00103210" "05260"
"00103891" "00198"
"00143915" "04214"
"00144156" "04214"
"00231855" "04214"
"00231856" "04214"
"00231857" "04214"
"00231858" "04214"
"00231859" "04214"
"00231860" "04214"
"00231861" "04214"
"00231862" "04214"
"00231863" "04214"
"00231864" "04214"
"00231865" "04214"
"00231866" "04214"
"00231867" "04214"
"00231868" "04214"
"00231869" "04214"
"00231870" "04214"
"00231871" "04214"
"00231872" "04214"
"00231873" "04214"
"00231874" "04214"
"00231875" "04214"
"00231876" "04214"
"00231877" "04214"
"00231878" "04214"
"00231879" "04214"
"00231880" "04214"
"00233586" "04214"
"00233587" "04214"
"00233588" "04214"
"00233589" "04214"
"00233590" "04214"
"00233591" "04214"
"00324526" "04213"
"00358974" "04214"
"00375414" "04214"
"00375416" "04214"
"00375430" "04214"
"00377531" "04214"
"00377533" "04214"
"00399788" "04214"
"00410967" "04214"
"00410968" "04214"
"00413461" "05260"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 04213, 04214, 05162, 05260
## 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}}"
"0000046283" "00112" "00059791" "00039" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000051342" "05162" "00065235" "01606" "Familial, autosomal recessive" "04y" "Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Seizures (HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -1.6) (-HP:0000252), Short upper lip (HP:0000188), Mild hypertelorism (HP:0000316), retrognathia (HP:0000278), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Cortical visual impairment (HP:0100704), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), laryngotracheomalacia (HP:0008755), Anal atresia (HP:0002023)" "" "" "" "" "" "" "" "" "" "" ""
"0000051343" "05162" "00065236" "01606" "Familial, autosomal recessive" "13y" "Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Scoliosis (HP:0002650), Microcephaly (Z score -4) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371)" "" "" "" "" "" "" "" "" "" "" ""
"0000051344" "05162" "00065237" "01606" "Familial, autosomal recessive" "05y" "Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), Microcephaly (Z score -3.8) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371)" "" "" "" "" "" "" "" "" "" "" ""
"0000051345" "05162" "00065238" "01606" "Familial, autosomal recessive" "03y" "Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), Scoliosis (HP:0002650), Microcephaly (Z score -3.3) (HP:0000252), Deeply set eye (HP:0000490), Gingival overgrowth (HP:0000212), Short philtrum (HP:0000322), Retrognathia (HP:0000278), Prominent fingertip pads (HP:0001212), Muscular hypotonia of the trunk (HP:0008936), Limb hypertonia (HP:0002509), Hyporeflexia (HP:0001265), Dystonic posturing (HP:0002533), Abnormality of visual evoked potentials (HP:0000649), Abnormal electroretinogram (HP:0000512), Cerebellar atrophy (HP:0001272), Cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371)" "" "" "" "" "" "" "" "" "" "" ""
"0000051346" "05162" "00065240" "01606" "Familial, autosomal recessive" "10y" "Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), no scoliosis (-HP:0002650), no microcephaly (Z score 0) (-HP:0000252), Deeply set eye (HP:0000490), retrognathia (HP:0000278), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), no dystonic posturing (-HP:0002533), esotropia (HP:0000565), Hypermetropia (HP:0000540), Astigmatism (HP:0000483), Cerebellar atrophy (HP:0001272), no cerebral atrophy (-HP:0002059), Corpus callosum atrophy (HP:0007371)" "" "" "" "" "" "" "" "" "" "" ""
"0000051347" "05162" "00065241" "01606" "Familial, autosomal recessive" "12y" "Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), no scoliosis (-HP:0002650), no microcephaly (Z score 0) (-HP:0000252), Deeply set eye (HP:0000490), no muscular hypotonia of the trunk (-HP:0008936), no limb hypertonia (-HP:0002509), no hyporeflexia (-HP:0001265), no dystonic posturing (-HP:0002533)" "" "" "" "" "" "" "" "" "" "" ""
"0000051349" "05162" "00065242" "01606" "Isolated (sporadic)" "12y" "Global developmental delay (HP:0001263), Delayed speech and language development (HP:0000750), no seizures (-HP:0001250), Scoliosis (HP:0002650), no microcephaly (Z score -0.34) (-HP:0000252), Low anterior hairline (HP:0000294), Abnormality of the pinna (HP:0000377), Gingival overgrowth (HP:0000212), Micrognathia (HP:0000347), Muscular hypotonia of the trunk (HP:0008936), no limb hypertonia (-HP:0002509), Hyporeflexia (HP:0001265), no dystonic posturing (-HP:0002533), Myopia (HP:0000545), Optic atrophy (HP:0000648), Cerebellar atrophy (HP:0001272), mild cerebral atrophy (HP:0002059), Corpus callosum atrophy (HP:0007371), Vitiligo (HP:0001045)," "" "" "" "" "" "" "" "" "" "" ""
"0000081306" "05260" "00103210" "01944" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000081818" "00198" "00103891" "00006" "Isolated (sporadic)" "" "developmental delay, cerebellar atrophy, scoliosis" "" "" "" "" "" "" "" "" "" "" ""
"0000116693" "04214" "00143915" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000116934" "04214" "00144156" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000243071" "04213" "00324526" "03960" "Familial, autosomal recessive" "" "see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)" "06y" "20y" "photophobia, reduiced visual acuity" "" "" "" "" "" "" "cone dystrophy" ""
"0000254272" "04214" "00358974" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270628" "04214" "00375414" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270630" "04214" "00375416" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000270644" "04214" "00375430" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000272681" "04214" "00377531" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" ""
"0000272683" "04214" "00377533" "00000" "Isolated (sporadic)" "" "see paper" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "retinal disease" ""
"0000292888" "04214" "00399788" "00000" "Familial, autosomal recessive" "18y" "attenuated retinal bloodvessels and diffuse temporal pallor of the optic disc with evidence of diffuse RPE changes and dull foveal reflex" "" "" "" "" "" "" "" "" "" "rod cone dystrophy (arRCD)" ""
"0000303057" "04214" "00410967" "00000" "Familial, autosomal recessive" "" "early infantile onset epilepsy, scaphocephaly, developmental delay, central hypotonia, muscle wasting, and severe cerebellar and brainstem atrophy" "" "" "" "" "" "" "" "" "" "cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy" ""
"0000303058" "04214" "00410968" "00000" "Familial, autosomal recessive" "10y" "low anterior hairline, development delay, severe intellectual disability, autism spectrum disorder, strabismus, global hypotonia, bifid uvula" "" "" "" "" "" "" "" "" "" "early-onset severe global development delay" ""
"0000305435" "06383" "00413461" "01399" "Familial" "00y05m" "" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 55
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000059778" "00059791" "1" "00039" "00008" "2012-09-24 13:45:49" "" "" "SEQ-NG-I" "DNA" "" ""
"0000065387" "00065235" "1" "01606" "01606" "2016-05-24 09:44:27" "" "" "SEQ" "DNA" "" ""
"0000065388" "00065236" "1" "01606" "01606" "2016-05-24 09:59:46" "" "" "SEQ" "DNA" "" ""
"0000065389" "00065237" "1" "01606" "01606" "2016-05-24 10:06:26" "" "" "SEQ" "DNA" "" ""
"0000065390" "00065238" "1" "01606" "01606" "2016-05-24 10:11:51" "" "" "SEQ" "DNA" "" ""
"0000065391" "00065240" "1" "01606" "01606" "2016-05-24 10:25:49" "" "" "SEQ" "DNA" "" ""
"0000065392" "00065241" "1" "01606" "01606" "2016-05-24 10:32:31" "" "" "SEQ" "DNA" "" ""
"0000065394" "00065242" "1" "01606" "01606" "2016-05-24 10:47:04" "" "" "SEQ" "DNA" "" ""
"0000103664" "00103210" "1" "01944" "01944" "2017-04-07 15:31:40" "00006" "2017-04-11 14:48:27" "RT-PCR;SEQ;SEQ-NG-I" "DNA;RNA" "Blood" ""
"0000104349" "00103891" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000144774" "00143915" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000145015" "00144156" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000232954" "00231855" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232955" "00231856" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232956" "00231857" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232957" "00231858" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232958" "00231859" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232959" "00231860" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232960" "00231861" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232961" "00231862" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232962" "00231863" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232963" "00231864" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232964" "00231865" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232965" "00231866" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232966" "00231867" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232967" "00231868" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232968" "00231869" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232969" "00231870" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232970" "00231871" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232971" "00231872" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232972" "00231873" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232973" "00231874" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232974" "00231875" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232975" "00231876" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232976" "00231877" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232977" "00231878" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232978" "00231879" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000232979" "00231880" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234685" "00233586" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234686" "00233587" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234687" "00233588" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234688" "00233589" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234689" "00233590" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234690" "00233591" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000325718" "00324526" "1" "03960" "03960" "2020-12-18 10:26:14" "00006" "2021-01-05 14:19:27" "SEQ;SEQ-NG" "DNA" "Blood" "WES"
"0000360211" "00358974" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376611" "00375414" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376613" "00375416" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376627" "00375430" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000378734" "00377531" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ" "DNA" "blood" "Targeted next-generation sequencing"
"0000378736" "00377533" "1" "00000" "03840" "2021-07-22 15:35:32" "00006" "2021-08-06 16:49:30" "SEQ-NG;SEQ;MLPA" "DNA" "blood" "Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A> G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing, The RPGR exon ORF15 analysis, multiplex ligation-dependent probe amplification analysis"
"0000401031" "00399788" "1" "00000" "00008" "2022-01-23 10:23:00" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
"0000412231" "00410967" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA;RNA" "blood" "Exome and Targeted NGS"
"0000412232" "00410968" "1" "00000" "00008" "2022-05-31 18:45:49" "" "" "SEQ-NG;SEQ" "DNA" "" "WES"
"0000414740" "00413461" "1" "01399" "01399" "2022-07-19 03:45:03" "" "" "SEQ-NG" "DNA" "" "WES, WGS, RT-PCR, WB"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 49
"{{screeningid}}" "{{geneid}}"
"0000059778" "EMC1"
"0000065387" "EMC1"
"0000065388" "EMC1"
"0000065389" "EMC1"
"0000065390" "EMC1"
"0000065391" "EMC1"
"0000065392" "EMC1"
"0000065394" "EMC1"
"0000103664" "EMC1"
"0000104349" "EMC1"
"0000144774" "EYS"
"0000145015" "EYS"
"0000232954" "EMC1"
"0000232955" "EMC1"
"0000232956" "EMC1"
"0000232957" "EMC1"
"0000232958" "EMC1"
"0000232959" "EMC1"
"0000232960" "EMC1"
"0000232961" "EMC1"
"0000232962" "EMC1"
"0000232963" "EMC1"
"0000232964" "EMC1"
"0000232965" "EMC1"
"0000232966" "EMC1"
"0000232967" "EMC1"
"0000232968" "EMC1"
"0000232969" "EMC1"
"0000232970" "EMC1"
"0000232971" "EMC1"
"0000232972" "EMC1"
"0000232973" "EMC1"
"0000232974" "EMC1"
"0000232975" "EMC1"
"0000232976" "EMC1"
"0000232977" "EMC1"
"0000232978" "EMC1"
"0000232979" "EMC1"
"0000234685" "EMC1"
"0000234686" "EMC1"
"0000234687" "EMC1"
"0000234688" "EMC1"
"0000234689" "EMC1"
"0000234690" "EMC1"
"0000325718" "POC1B"
"0000401031" "MERTK"
"0000412231" "EMC1"
"0000412232" "EMC1"
"0000414740" "EMC1"
## 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 = 119
"{{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}}"
"0000090894" "3" "90" "1" "19568918" "19568918" "subst" "0" "00039" "EMC1_000001" "g.19568918C>T" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Unknown" "" "" "0" "" "" "g.19242424C>T" "" "pathogenic" ""
"0000097060" "3" "90" "1" "19547311" "19547314" "del" "0" "01606" "EMC1_000005" "g.19547311_19547314del" "" "{PMID:Harel T 2016:26942288}, {DOI:Harel T 2016:10.1016/j.ajhg.2016.01.011}" "" "2619_2622delTCCT" "" "Germline" "" "" "0" "" "" "g.19220817_19220820del" "" "pathogenic" ""
"0000097061" "3" "90" "1" "19570485" "19570485" "subst" "1.62512E-5" "01606" "EMC1_000002" "g.19570485G>A" "" "{PMID:Harel T 2016:26942288}, {DOI:Harel T 2016:10.1016/j.ajhg.2016.01.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19243991G>A" "" "pathogenic" ""
"0000097062" "3" "90" "1" "19570485" "19570485" "subst" "1.62512E-5" "01606" "EMC1_000002" "g.19570485G>A" "" "{PMID:Harel 2016:26942288}, {DOI:Harel 2016:10.1016/j.ajhg.2016.01.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19243991G>A" "" "pathogenic" ""
"0000097063" "3" "90" "1" "19570485" "19570485" "subst" "1.62512E-5" "01606" "EMC1_000002" "g.19570485G>A" "" "{PMID:Harel T 2016:26942288}, {DOI:Harel T 2016:10.1016/j.ajhg.2016.01.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19243991G>A" "" "pathogenic" ""
"0000097064" "3" "90" "1" "19547328" "19547328" "subst" "0" "01606" "EMC1_000003" "g.19547328C>T" "" "{PMID:Harel T 2016:26942288}, {DOI:Harel T 2016:10.1016/j.ajhg.2016.01.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19220834C>T" "" "pathogenic" ""
"0000097065" "3" "90" "1" "19547328" "19547328" "subst" "0" "01606" "EMC1_000003" "g.19547328C>T" "" "{PMID:Harel T 2016:26942288}, {DOI:Harel T 2016:10.1016/j.ajhg.2016.01.011}" "" "" "" "Germline" "yes" "" "0" "" "" "g.19220834C>T" "" "pathogenic" ""
"0000097066" "0" "90" "1" "19561645" "19561645" "subst" "0" "01606" "EMC1_000004" "g.19561645C>G" "" "{PMID:Harel T 2016:26942288}, {DOI:Harel T 2016:10.1016/j.ajhg.2016.01.011}" "" "" "" "De novo" "" "" "0" "" "" "g.19235151C>G" "" "pathogenic" ""
"0000167133" "3" "70" "1" "19564510" "19564510" "subst" "0" "01944" "EMC1_000006" "g.19564510C>T" "" "" "" "" "not observed in public databases (EXAC, 1000Genome) or internal database" "Germline" "yes" "" "0" "" "" "g.19238016C>T" "" "likely pathogenic" ""
"0000169029" "1" "90" "1" "19561645" "19561645" "subst" "0" "00006" "EMC1_000004" "g.19561645C>G" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.19235151C>G" "" "pathogenic" ""
"0000245398" "0" "10" "1" "19566408" "19566408" "subst" "0.00184016" "02330" "EMC1_000018" "g.19566408A>C" "" "" "" "EMC1(NM_015047.2):c.858T>G (p.A286=), EMC1(NM_015047.3):c.858T>G (p.A286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19239914A>C" "" "benign" ""
"0000254123" "0" "30" "1" "19566408" "19566408" "subst" "0.00184016" "01943" "EMC1_000018" "g.19566408A>C" "" "" "" "EMC1(NM_015047.2):c.858T>G (p.A286=), EMC1(NM_015047.3):c.858T>G (p.A286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19239914A>C" "" "likely benign" ""
"0000265859" "0" "10" "1" "19565368" "19565368" "subst" "0.000310534" "02330" "EMC1_000017" "g.19565368G>A" "" "" "" "EMC1(NM_015047.3):c.1027-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19238874G>A" "" "benign" ""
"0000265860" "0" "10" "1" "19565307" "19565307" "subst" "0.000272117" "02330" "EMC1_000016" "g.19565307C>T" "" "" "" "EMC1(NM_015047.3):c.1071G>A (p.S357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19238813C>T" "" "benign" ""
"0000265862" "0" "30" "1" "19557342" "19557342" "subst" "0.000117827" "02330" "EMC1_000011" "g.19557342C>T" "" "" "" "EMC1(NM_015047.3):c.2060G>A (p.R687Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19230848C>T" "" "likely benign" ""
"0000265863" "0" "10" "1" "19550004" "19550004" "subst" "3.24971E-5" "02330" "EMC1_000009" "g.19550004G>A" "" "" "" "EMC1(NM_015047.3):c.2262C>T (p.R754=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19223510G>A" "" "benign" ""
"0000265864" "0" "10" "1" "19547281" "19547281" "subst" "8.12856E-6" "02330" "EMC1_000008" "g.19547281G>C" "" "" "" "EMC1(NM_015047.3):c.2649C>G (p.P883=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19220787G>C" "" "benign" ""
"0000265865" "0" "10" "1" "19545893" "19545893" "subst" "0.0055958" "02330" "EMC1_000007" "g.19545893G>A" "" "" "" "EMC1(NM_015047.2):c.2886C>T (p.Y962=), EMC1(NM_015047.3):c.2886C>T (p.Y962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19219399G>A" "" "benign" ""
"0000265866" "0" "10" "1" "19570092" "19570092" "subst" "0.000581835" "02330" "EMC1_000021" "g.19570092C>T" "" "" "" "EMC1(NM_015047.3):c.380+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19243598C>T" "" "benign" ""
"0000276112" "0" "30" "1" "19561655" "19561655" "subst" "0.000398588" "01943" "EMC1_000015" "g.19561655G>A" "" "" "" "EMC1(NM_015047.2):c.1401C>T (p.A467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19235161G>A" "" "likely benign" ""
"0000276113" "0" "30" "1" "19559157" "19559157" "subst" "0.000170549" "01943" "EMC1_000013" "g.19559157G>A" "" "" "" "EMC1(NM_015047.2):c.1743C>T (p.F581=), EMC1(NM_015047.3):c.1743C>T (p.F581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19232663G>A" "" "likely benign" ""
"0000276114" "0" "30" "1" "19550017" "19550017" "subst" "7.31511E-5" "01943" "EMC1_000010" "g.19550017G>A" "" "" "" "EMC1(NM_015047.2):c.2249C>T (p.A750V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19223523G>A" "" "likely benign" ""
"0000276115" "0" "10" "1" "19545893" "19545893" "subst" "0.0055958" "01943" "EMC1_000007" "g.19545893G>A" "" "" "" "EMC1(NM_015047.2):c.2886C>T (p.Y962=), EMC1(NM_015047.3):c.2886C>T (p.Y962=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19219399G>A" "" "benign" ""
"0000276116" "0" "30" "1" "19567538" "19567538" "subst" "0" "01943" "EMC1_000020" "g.19567538T>C" "" "" "" "EMC1(NM_015047.2):c.608A>G (p.N203S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19241044T>C" "" "likely benign" ""
"0000276117" "0" "10" "1" "19566858" "19566858" "subst" "0.0019981" "01943" "EMC1_000019" "g.19566858G>A" "" "" "" "EMC1(NM_015047.2):c.719C>T (p.P240L), EMC1(NM_015047.3):c.719C>T (p.P240L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19240364G>A" "" "benign" ""
"0000320588" "0" "50" "1" "19557884" "19557884" "subst" "0" "01804" "EMC1_000012" "g.19557884A>T" "" "" "" "EMC1(NM_015047.1):c.1815T>A (p.(Asn605Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.19231390A>T" "" "VUS" ""
"0000475662" "0" "50" "1" "19547292" "19547292" "subst" "0" "02591" "EMC1_000022" "g.19547292G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19220798G>C" "" "VUS" ""
"0000475663" "0" "50" "1" "19549297" "19549297" "subst" "2.04032E-5" "02591" "EMC1_000023" "g.19549297T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs767398238" "0" "" "" "g.19222803T>C" "" "VUS" ""
"0000475664" "0" "50" "1" "19549301" "19549301" "subst" "6.54204E-5" "02591" "EMC1_000024" "g.19549301G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs372151221" "0" "" "" "g.19222807G>A" "" "VUS" ""
"0000475665" "0" "50" "1" "19549949" "19549949" "subst" "0" "02591" "EMC1_000025" "g.19549949A>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19223455A>T" "" "VUS" ""
"0000475666" "0" "50" "1" "19557348" "19557348" "subst" "0.000922105" "02591" "EMC1_000026" "g.19557348C>T" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs149861361" "0" "" "" "g.19230854C>T" "" "VUS" ""
"0000475667" "0" "50" "1" "19557377" "19557377" "subst" "4.06108E-5" "02591" "EMC1_000027" "g.19557377A>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs773767036" "0" "" "" "g.19230883A>C" "" "VUS" ""
"0000475668" "0" "50" "1" "19557394" "19557394" "subst" "2.84259E-5" "02591" "EMC1_000028" "g.19557394A>G" "14/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2275402" "0" "" "" "g.19230900A>G" "" "VUS" ""
"0000475669" "0" "50" "1" "19557802" "19557802" "subst" "0" "02591" "EMC1_000029" "g.19557802C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19231308C>A" "" "VUS" ""
"0000475670" "0" "50" "1" "19557912" "19557912" "subst" "0.000891119" "02591" "EMC1_000030" "g.19557912G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs140940082" "0" "" "" "g.19231418G>A" "" "VUS" ""
"0000475671" "0" "50" "1" "19559224" "19559224" "subst" "0" "02591" "EMC1_000031" "g.19559224T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19232730T>C" "" "VUS" ""
"0000475672" "0" "50" "1" "19561735" "19561735" "subst" "0" "02591" "EMC1_000032" "g.19561735C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19235241C>T" "" "VUS" ""
"0000475673" "0" "50" "1" "19564521" "19564521" "subst" "0.00108308" "02591" "EMC1_000033" "g.19564521C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs146431577" "0" "" "" "g.19238027C>T" "" "VUS" ""
"0000475674" "0" "50" "1" "19564554" "19564554" "subst" "0.000976642" "02591" "EMC1_000034" "g.19564554G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs144716849" "0" "" "" "g.19238060G>A" "" "VUS" ""
"0000475675" "0" "50" "1" "19564555" "19564555" "subst" "0" "02591" "EMC1_000035" "g.19564555T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19238061T>C" "" "VUS" ""
"0000475676" "0" "50" "1" "19565338" "19565338" "subst" "0.135882" "02591" "EMC1_000036" "g.19565338C>T" "230/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs709682" "0" "" "" "g.19238844C>T" "" "VUS" ""
"0000475677" "0" "50" "1" "19565344" "19565344" "subst" "0.437771" "02591" "EMC1_000037" "g.19565344C>G" "450/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs709683" "0" "" "" "g.19238850C>G" "" "VUS" ""
"0000475678" "0" "50" "1" "19565772" "19565772" "subst" "0" "02591" "EMC1_000038" "g.19565772T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19239278T>G" "" "VUS" ""
"0000475679" "0" "50" "1" "19566382" "19566382" "subst" "0.0135003" "02591" "EMC1_000039" "g.19566382A>G" "141/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs3850531" "0" "" "" "g.19239888A>G" "" "VUS" ""
"0000475680" "0" "50" "1" "19566442" "19566442" "subst" "0.000643448" "02591" "EMC1_000040" "g.19566442C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs374425694" "0" "" "" "g.19239948C>T" "" "VUS" ""
"0000475681" "0" "50" "1" "19566443" "19566443" "subst" "0" "02591" "EMC1_000041" "g.19566443G>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19239949G>C" "" "VUS" ""
"0000475682" "0" "50" "1" "19566446" "19566446" "subst" "1.63433E-5" "02591" "EMC1_000042" "g.19566446G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs772631363" "0" "" "" "g.19239952G>A" "" "VUS" ""
"0000475683" "0" "50" "1" "19566885" "19566885" "subst" "0.000203057" "02591" "EMC1_000043" "g.19566885T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs571944461" "0" "" "" "g.19240391T>C" "" "VUS" ""
"0000475684" "0" "50" "1" "19566915" "19566915" "subst" "0" "02591" "EMC1_000044" "g.19566915T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19240421T>C" "" "VUS" ""
"0000475685" "0" "50" "1" "19568972" "19568972" "subst" "0.443733" "02591" "EMC1_000045" "g.19568972A>G" "451/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs710865" "0" "" "" "g.19242478A>G" "" "VUS" ""
"0000475686" "0" "50" "1" "19571465" "19571465" "subst" "4.06078E-6" "02591" "EMC1_000046" "g.19571465T>C" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201537299" "0" "" "" "g.19244971T>C" "" "VUS" ""
"0000475687" "0" "50" "1" "19577966" "19577966" "subst" "0" "02591" "EMC1_000047" "g.19577966G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.19251472G>A" "" "VUS" ""
"0000477393" "3" "50" "1" "19549297" "19549297" "subst" "2.04032E-5" "02591" "EMC1_000023" "g.19549297T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs767398238" "0" "" "" "g.19222803T>C" "" "VUS" ""
"0000477394" "3" "50" "1" "19557348" "19557348" "subst" "0.000922105" "02591" "EMC1_000026" "g.19557348C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs149861361" "0" "" "" "g.19230854C>T" "" "VUS" ""
"0000477395" "3" "50" "1" "19565338" "19565338" "subst" "0.135882" "02591" "EMC1_000036" "g.19565338C>T" "26/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs709682" "0" "" "" "g.19238844C>T" "" "VUS" ""
"0000477396" "3" "50" "1" "19565344" "19565344" "subst" "0.437771" "02591" "EMC1_000037" "g.19565344C>G" "675/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs709683" "0" "" "" "g.19238850C>G" "" "VUS" ""
"0000477397" "3" "50" "1" "19566382" "19566382" "subst" "0.0135003" "02591" "EMC1_000039" "g.19566382A>G" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs3850531" "0" "" "" "g.19239888A>G" "" "VUS" ""
"0000477398" "3" "50" "1" "19568972" "19568972" "subst" "0.443733" "02591" "EMC1_000045" "g.19568972A>G" "675/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs710865" "0" "" "" "g.19242478A>G" "" "VUS" ""
"0000504477" "0" "10" "1" "19549251" "19549251" "subst" "0.000182866" "02330" "EMC1_000048" "g.19549251G>A" "" "" "" "EMC1(NM_015047.2):c.2454C>T (p.N818=), EMC1(NM_015047.3):c.2454C>T (p.N818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19222757G>A" "" "benign" ""
"0000504478" "0" "30" "1" "19549251" "19549251" "subst" "0.000182866" "01943" "EMC1_000048" "g.19549251G>A" "" "" "" "EMC1(NM_015047.2):c.2454C>T (p.N818=), EMC1(NM_015047.3):c.2454C>T (p.N818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19222757G>A" "" "likely benign" ""
"0000504480" "0" "50" "1" "19549993" "19549993" "subst" "0" "01943" "EMC1_000050" "g.19549993C>G" "" "" "" "EMC1(NM_015047.2):c.2273G>C (p.G758A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19223499C>G" "" "VUS" ""
"0000504481" "0" "30" "1" "19550001" "19550001" "subst" "0" "01943" "EMC1_000051" "g.19550001G>A" "" "" "" "EMC1(NM_015047.2):c.2265C>T (p.T755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19223507G>A" "" "likely benign" ""
"0000504484" "0" "30" "1" "19557912" "19557912" "subst" "0.000891119" "01804" "EMC1_000030" "g.19557912G>A" "" "" "" "EMC1(NM_015047.2):c.1787C>T (p.(Ser596Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19231418G>A" "" "likely benign" ""
"0000504485" "0" "30" "1" "19559115" "19559115" "subst" "1.62717E-5" "01943" "EMC1_000054" "g.19559115C>T" "" "" "" "EMC1(NM_015047.2):c.1782+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19232621C>T" "" "likely benign" ""
"0000504486" "0" "50" "1" "19559155" "19559155" "subst" "0" "02327" "EMC1_000055" "g.19559155G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19232661G>T" "" "VUS" ""
"0000504487" "0" "10" "1" "19559157" "19559157" "subst" "0.000170549" "02330" "EMC1_000013" "g.19559157G>A" "" "" "" "EMC1(NM_015047.2):c.1743C>T (p.F581=), EMC1(NM_015047.3):c.1743C>T (p.F581=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19232663G>A" "" "benign" ""
"0000504488" "0" "30" "1" "19559577" "19559577" "subst" "8.15727E-6" "02330" "EMC1_000056" "g.19559577C>A" "" "" "" "EMC1(NM_015047.3):c.1485G>T (p.L495=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19233083C>A" "" "likely benign" ""
"0000504490" "0" "30" "1" "19561721" "19561721" "subst" "0.000118392" "01943" "EMC1_000058" "g.19561721A>G" "" "" "" "EMC1(NM_015047.2):c.1335T>C (p.R445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19235227A>G" "" "likely benign" ""
"0000504491" "0" "30" "1" "19564554" "19564554" "subst" "0.000976642" "01804" "EMC1_000034" "g.19564554G>A" "" "" "" "EMC1(NM_015047.2):c.1169C>T (p.(Thr390Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19238060G>A" "" "likely benign" ""
"0000504492" "0" "10" "1" "19566500" "19566502" "del" "0" "02330" "EMC1_000059" "g.19566500_19566502del" "" "" "" "EMC1(NM_015047.3):c.787-16_787-14delCCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19240006_19240008del" "" "benign" ""
"0000504493" "0" "30" "1" "19566858" "19566858" "subst" "0.0019981" "02330" "EMC1_000019" "g.19566858G>A" "" "" "" "EMC1(NM_015047.2):c.719C>T (p.P240L), EMC1(NM_015047.3):c.719C>T (p.P240L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19240364G>A" "" "likely benign" ""
"0000504495" "0" "30" "1" "19570426" "19570426" "subst" "0.000443529" "02330" "EMC1_000060" "g.19570426C>A" "" "" "" "EMC1(NM_015047.3):c.286+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19243932C>A" "" "likely benign" ""
"0000605028" "0" "30" "1" "19547281" "19547281" "subst" "4.06428E-5" "02330" "EMC1_000061" "g.19547281G>A" "" "" "" "EMC1(NM_015047.3):c.2649C>T (p.P883=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19220787G>A" "" "likely benign" ""
"0000620452" "0" "30" "1" "19557806" "19557806" "subst" "7.00055E-5" "01943" "EMC1_000062" "g.19557806G>C" "" "" "" "EMC1(NM_015047.2):c.1893C>G (p.V631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.19231312G>C" "" "likely benign" ""
"0000675565" "0" "30" "1" "19545830" "19545830" "subst" "2.84257E-5" "01943" "EMC1_000063" "g.19545830T>C" "" "" "" "EMC1(NM_015047.2):c.2949A>G (p.A983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675566" "0" "30" "1" "19549224" "19549224" "subst" "5.28236E-5" "01943" "EMC1_000064" "g.19549224G>A" "" "" "" "EMC1(NM_015047.2):c.2481C>T (p.R827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675567" "0" "30" "1" "19550018" "19550018" "subst" "7.31529E-5" "01943" "EMC1_000065" "g.19550018C>T" "" "" "" "EMC1(NM_015047.2):c.2248G>A (p.A750T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675568" "0" "30" "1" "19570451" "19570451" "subst" "7.31374E-5" "01943" "EMC1_000066" "g.19570451G>A" "" "" "" "EMC1(NM_015047.2):c.279C>T (p.H93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000710802" "0" "70" "1" "19571513" "19571513" "subst" "0" "00006" "EMC1_000067" "g.19571513T>G" "" "{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}" "" "A107C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000717038" "0" "70" "1" "19549986" "19549986" "del" "0" "02329" "EMC1_000049" "g.19549986del" "" "" "" "EMC1(NM_015047.3):c.2281delC (p.L761Sfs*102)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000717039" "0" "50" "1" "19566860" "19566860" "subst" "0.000154329" "01943" "EMC1_000068" "g.19566860G>C" "" "" "" "EMC1(NM_015047.2):c.717C>G (p.D239E), EMC1(NM_015047.3):c.717C>G (p.D239E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000717040" "0" "30" "1" "19568973" "19568973" "subst" "0" "01943" "EMC1_000069" "g.19568973C>G" "" "" "" "EMC1(NM_015047.2):c.381-6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000717041" "0" "50" "1" "19570174" "19570174" "subst" "4.06095E-6" "01943" "EMC1_000070" "g.19570174C>T" "" "" "" "EMC1(NM_015047.2):c.314G>A (p.R105Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000760073" "0" "50" "1" "19547289" "19547289" "subst" "2.8446E-5" "00000" "EMC1_000071" "g.19547289G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.19220795G>A" "" "VUS" ""
"0000788310" "0" "50" "1" "19567603" "19567603" "del" "0" "00000" "EMC1_000073" "g.19567603del" "" "{PMID:Katagiri 2014:25268133}" "" "543delC" "" "Germline" "" "" "0" "" "" "g.19241109del" "" "VUS" ""
"0000788319" "0" "50" "1" "19547297" "19547297" "subst" "1.62517E-5" "00000" "EMC1_000072" "g.19547297A>C" "" "{PMID:Katagiri 2014:25268133}" "" "T2633G" "" "Germline" "" "" "0" "" "" "g.19220803A>C" "" "VUS" ""
"0000788339" "0" "50" "1" "19557394" "19557394" "subst" "2.84259E-5" "00000" "EMC1_000028" "g.19557394A>G" "" "{PMID:Katagiri 2014:25268133}" "" "T2008C" "" "Germline" "" "rs2275402" "0" "" "" "g.19230900A>G" "" "VUS" ""
"0000788341" "0" "50" "1" "19567538" "19567538" "subst" "0" "00000" "EMC1_000020" "g.19567538T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A608G" "" "Germline" "" "" "0" "" "" "g.19241044T>C" "" "VUS" ""
"0000788355" "0" "50" "1" "19571465" "19571465" "subst" "4.06078E-6" "00000" "EMC1_000046" "g.19571465T>C" "" "{PMID:Katagiri 2014:25268133}" "" "A155G" "" "Germline" "" "rs201537299" "0" "" "" "g.19244971T>C" "" "VUS" ""
"0000791619" "0" "50" "1" "19564554" "19564554" "subst" "0.000976642" "00000" "EMC1_000034" "g.19564554G>A" "" "{PMID:Hosono 2018:29844330}" "" "c.1169C>T" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "rs144716849" "0" "" "" "g.19238060G>A" "" "VUS" "ACMG"
"0000791625" "0" "50" "1" "19564536" "19564536" "subst" "0" "00000" "EMC1_000074" "g.19564536T>G" "" "{PMID:Hosono 2018:29844330}" "" "c.1187A>C" "single heterozygous variant in a recessive gene, probably not causative in the patient" "Germline" "no" "" "0" "" "" "g.19238042T>G" "" "VUS" "ACMG"
"0000798959" "0" "30" "1" "19550077" "19550078" "del" "0" "02330" "EMC1_000075" "g.19550077_19550078del" "" "" "" "EMC1(NM_015047.3):c.2203-5_2203-4del, EMC1(NM_015047.3):c.2203-5_2203-4delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000834072" "0" "30" "1" "0" "0" "del" "0" "00000" "NPHS2_000000" "g.?" "" "{PMID:Bhatia 2019:30851773}" "" "p.Leu321fs" "" "Germline" "no" "" "0" "" "" "" "" "likely benign" ""
"0000857184" "0" "70" "1" "19565288" "19565288" "subst" "0" "01943" "EMC1_000076" "g.19565288C>A" "" "" "" "EMC1(NM_015047.2):c.1089+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000857185" "0" "30" "1" "19566875" "19566875" "subst" "6.49741E-5" "02330" "EMC1_000077" "g.19566875G>A" "" "" "" "EMC1(NM_015047.3):c.702C>T (p.V234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000869498" "3" "70" "1" "19564510" "19564510" "subst" "0" "00000" "EMC1_000006" "g.19564510C>T" "" "{PMID:Geetha-2018:29271071}" "" "c.1212 + 1G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000869499" "0" "50" "1" "19564522" "19564522" "subst" "0.000159378" "00000" "EMC1_000079" "g.19564522G>A" "" "{PMID:Geetha-2018:29271071}" "" "chr1:19564522; G>A, p.Arg401Trp)," "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000869500" "1" "90" "1" "19545921" "19545921" "subst" "4.06095E-6" "00000" "EMC1_000078" "g.19545921A>G" "" "{PMID:Cabet 2020:32092440}" "" "c.2858T>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000869501" "2" "90" "1" "19564589" "19564589" "subst" "4.06359E-6" "00000" "EMC1_000080" "g.19564589G>T" "" "{PMID:Cabet 2020:32092440}" "" "c.1134C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000872451" "21" "70" "1" "19570202" "19570202" "subst" "4.06138E-6" "01399" "EMC1_000082" "g.19570202C>T" "" "" "" "" "" "Germline" "yes" "rs751484278" "0" "" "r.286_287ins286+1_287-1, r.286_287ins287-91_287-1, r.287_310del, r.287_380del" "g.19243708C>T" "445564" "likely pathogenic" ""
"0000872452" "11" "70" "1" "19548113" "19548113" "subst" "0" "01399" "EMC1_000081" "g.19548113G>C" "" "" "" "r.2587-2588ins2588-780_2588-663" "" "Germline" "yes" "rs1448410617" "0" "" "" "g.19221619G>C" "" "VUS" ""
"0000882983" "0" "70" "1" "19559156" "19559156" "subst" "0" "02325" "EMC1_000083" "g.19559156G>A" "" "" "" "EMC1(NM_015047.3):c.1744C>T (p.P582S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000928080" "0" "30" "1" "19565320" "19565320" "subst" "0.000698545" "02330" "EMC1_000084" "g.19565320A>G" "" "" "" "EMC1(NM_001375820.1):c.1058T>C (p.M353T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000947071" "0" "30" "1" "19566492" "19566492" "subst" "0.000947836" "02330" "EMC1_000085" "g.19566492A>G" "" "" "" "EMC1(NM_001375820.1):c.787-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000960697" "0" "30" "1" "19570466" "19570466" "subst" "0" "02330" "EMC1_000086" "g.19570466A>G" "" "" "" "EMC1(NM_001375820.1):c.264T>C (p.D88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000973518" "0" "30" "1" "19557791" "19557791" "subst" "0.000874445" "01804" "EMC1_000087" "g.19557791G>A" "" "" "" "EMC1(NM_015047.3):c.1908C>T (p.(Tyr636=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000973519" "0" "50" "1" "19557843" "19557843" "del" "0" "01804" "EMC1_000088" "g.19557843del" "" "" "" "EMC1(NM_015047.3):c.1856del (p.(Leu619Argfs*24))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973520" "0" "50" "1" "19565735" "19565735" "subst" "1.21928E-5" "02325" "EMC1_000089" "g.19565735C>T" "" "" "" "EMC1(NM_015047.3):c.1016G>A (p.R339Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973521" "0" "50" "1" "19566860" "19566860" "subst" "0.000154329" "02325" "EMC1_000068" "g.19566860G>C" "" "" "" "EMC1(NM_015047.2):c.717C>G (p.D239E), EMC1(NM_015047.3):c.717C>G (p.D239E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990654" "0" "30" "1" "19547288" "19547288" "subst" "1.21962E-5" "01804" "EMC1_000090" "g.19547288C>T" "" "" "" "EMC1(NM_015047.2):c.2642G>A (p.(Arg881His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000990655" "0" "30" "1" "19557454" "19557454" "subst" "0" "01804" "EMC1_000091" "g.19557454T>C" "" "" "" "EMC1(NM_015047.2):c.1948A>G (p.(Thr650Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000990656" "0" "50" "1" "19559508" "19559508" "del" "0" "01804" "EMC1_000092" "g.19559508del" "" "" "" "EMC1(NM_015047.2):c.1554delT (p.(Asn518fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990657" "0" "30" "1" "19566410" "19566410" "subst" "8.12486E-6" "01804" "EMC1_000093" "g.19566410C>T" "" "" "" "EMC1(NM_015047.2):c.856G>A (p.(Ala286Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031544" "0" "30" "1" "19546196" "19546196" "subst" "4.06372E-6" "01804" "EMC1_000094" "g.19546196C>T" "" "" "" "EMC1(NM_015047.3):c.2673-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031545" "0" "30" "1" "19550077" "19550078" "del" "0" "01804" "EMC1_000075" "g.19550077_19550078del" "" "" "" "EMC1(NM_015047.3):c.2203-5_2203-4del, EMC1(NM_015047.3):c.2203-5_2203-4delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031546" "0" "50" "1" "19553881" "19553881" "subst" "1.21832E-5" "01804" "EMC1_000095" "g.19553881C>T" "" "" "" "EMC1(NM_015047.3):c.2128G>A (p.(Val710Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031547" "0" "30" "1" "19566354" "19566354" "subst" "6.09558E-5" "01804" "EMC1_000096" "g.19566354C>A" "" "" "" "EMC1(NM_015047.3):c.912G>T (p.(Gln304His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001031548" "0" "50" "1" "19566877" "19566877" "subst" "0" "01804" "EMC1_000097" "g.19566877C>T" "" "" "" "EMC1(NM_015047.3):c.700G>A (p.(Val234Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001049968" "0" "50" "1" "19546152" "19546153" "del" "0" "01804" "EMC1_000098" "g.19546152_19546153del" "" "" "" "EMC1(NM_015047.3):c.2714_2715del (p.(His905Argfs*8))" "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 EMC1
## Count = 119
"{{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}}"
"0000090894" "00007061" "90" "430" "0" "430" "0" "c.430G>A" "r.(?)" "p.(Ala144Thr)" "5"
"0000097060" "00007061" "90" "2619" "0" "2622" "0" "c.2619_2622del" "r.(?)" "p.(Pro874Argfs*21)" "21"
"0000097061" "00007061" "90" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Thr82Met)" "3"
"0000097062" "00007061" "90" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Thr82Met)" "3"
"0000097063" "00007061" "90" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Thr82Met)" "3"
"0000097064" "00007061" "90" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Gly868Arg)" "21"
"0000097065" "00007061" "90" "2602" "0" "2602" "0" "c.2602G>A" "r.(?)" "p.(Gly868Arg)" "21"
"0000097066" "00007061" "90" "1411" "0" "1411" "0" "c.1411G>C" "r.(?)" "p.(Gly471Arg)" "13"
"0000167133" "00007061" "70" "1212" "1" "1212" "1" "c.1212+1G>A" "r.1212_1213insains1212+2_1213-1" "p.fs*" "11i"
"0000169029" "00007061" "90" "1411" "0" "1411" "0" "c.1411G>C" "r.(?)" "p.(Gly471Arg)" "13"
"0000245398" "00007061" "10" "858" "0" "858" "0" "c.858T>G" "r.(?)" "p.(Ala286=)" ""
"0000254123" "00007061" "30" "858" "0" "858" "0" "c.858T>G" "r.(?)" "p.(Ala286=)" ""
"0000265859" "00007061" "10" "1027" "-17" "1027" "-17" "c.1027-17C>T" "r.(=)" "p.(=)" ""
"0000265860" "00007061" "10" "1071" "0" "1071" "0" "c.1071G>A" "r.(?)" "p.(Ser357=)" ""
"0000265862" "00007061" "30" "2060" "0" "2060" "0" "c.2060G>A" "r.(?)" "p.(Arg687Gln)" ""
"0000265863" "00007061" "10" "2262" "0" "2262" "0" "c.2262C>T" "r.(?)" "p.(Arg754=)" ""
"0000265864" "00007061" "10" "2649" "0" "2649" "0" "c.2649C>G" "r.(?)" "p.(Pro883=)" ""
"0000265865" "00007061" "10" "2886" "0" "2886" "0" "c.2886C>T" "r.(?)" "p.(Tyr962=)" ""
"0000265866" "00007061" "10" "380" "16" "380" "16" "c.380+16G>A" "r.(=)" "p.(=)" ""
"0000276112" "00007061" "30" "1401" "0" "1401" "0" "c.1401C>T" "r.(?)" "p.(Ala467=)" ""
"0000276113" "00007061" "30" "1743" "0" "1743" "0" "c.1743C>T" "r.(?)" "p.(Phe581=)" ""
"0000276114" "00007061" "30" "2249" "0" "2249" "0" "c.2249C>T" "r.(?)" "p.(Ala750Val)" ""
"0000276115" "00007061" "10" "2886" "0" "2886" "0" "c.2886C>T" "r.(?)" "p.(Tyr962=)" ""
"0000276116" "00007061" "30" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(Asn203Ser)" ""
"0000276117" "00007061" "10" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" ""
"0000320588" "00007061" "50" "1815" "0" "1815" "0" "c.1815T>A" "r.(?)" "p.(Asn605Lys)" ""
"0000475662" "00007061" "50" "2638" "0" "2638" "0" "c.2638C>G" "r.(?)" "p.(Pro880Ala)" ""
"0000475663" "00007061" "50" "2408" "0" "2408" "0" "c.2408A>G" "r.(?)" "p.(Asn803Ser)" ""
"0000475664" "00007061" "50" "2404" "0" "2404" "0" "c.2404C>T" "r.(?)" "p.(Arg802Cys)" ""
"0000475665" "00007061" "50" "2317" "0" "2317" "0" "c.2317T>A" "r.(?)" "p.(Ser773Thr)" ""
"0000475666" "00007061" "50" "2054" "0" "2054" "0" "c.2054G>A" "r.(?)" "p.(Arg685Gln)" ""
"0000475667" "00007061" "50" "2025" "0" "2025" "0" "c.2025T>G" "r.(?)" "p.(Asp675Glu)" ""
"0000475668" "00007061" "50" "2008" "0" "2008" "0" "c.2008T>C" "r.(?)" "p.(Phe670Leu)" ""
"0000475669" "00007061" "50" "1897" "0" "1897" "0" "c.1897G>T" "r.(?)" "p.(Asp633Tyr)" ""
"0000475670" "00007061" "50" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ser596Leu)" ""
"0000475671" "00007061" "50" "1676" "0" "1676" "0" "c.1676A>G" "r.(?)" "p.(Gln559Arg)" ""
"0000475672" "00007061" "50" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Val441Met)" ""
"0000475673" "00007061" "50" "1202" "0" "1202" "0" "c.1202G>A" "r.(?)" "p.(Arg401Gln)" ""
"0000475674" "00007061" "50" "1169" "0" "1169" "0" "c.1169C>T" "r.(?)" "p.(Thr390Met)" ""
"0000475675" "00007061" "50" "1168" "0" "1168" "0" "c.1168A>G" "r.(?)" "p.(Thr390Ala)" ""
"0000475676" "00007061" "50" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Ser347Asn)" ""
"0000475677" "00007061" "50" "1034" "0" "1034" "0" "c.1034G>C" "r.(?)" "p.(Ser345Thr)" ""
"0000475678" "00007061" "50" "979" "0" "979" "0" "c.979A>C" "r.(?)" "p.(Thr327Pro)" ""
"0000475679" "00007061" "50" "884" "0" "884" "0" "c.884T>C" "r.(?)" "p.(Leu295Ser)" ""
"0000475680" "00007061" "50" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275Gln)" ""
"0000475681" "00007061" "50" "823" "0" "823" "0" "c.823C>G" "r.(?)" "p.(Arg275Gly)" ""
"0000475682" "00007061" "50" "820" "0" "820" "0" "c.820C>T" "r.(?)" "p.(Pro274Ser)" ""
"0000475683" "00007061" "50" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Asp231Gly)" ""
"0000475684" "00007061" "50" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Gln221Arg)" ""
"0000475685" "00007061" "50" "381" "-5" "381" "-5" "c.381-5T>C" "r.spl?" "p.?" ""
"0000475686" "00007061" "50" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Lys52Arg)" ""
"0000475687" "00007061" "50" "38" "0" "38" "0" "c.38C>T" "r.(?)" "p.(Ala13Val)" ""
"0000477393" "00007061" "50" "2408" "0" "2408" "0" "c.2408A>G" "r.(?)" "p.(Asn803Ser)" ""
"0000477394" "00007061" "50" "2054" "0" "2054" "0" "c.2054G>A" "r.(?)" "p.(Arg685Gln)" ""
"0000477395" "00007061" "50" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Ser347Asn)" ""
"0000477396" "00007061" "50" "1034" "0" "1034" "0" "c.1034G>C" "r.(?)" "p.(Ser345Thr)" ""
"0000477397" "00007061" "50" "884" "0" "884" "0" "c.884T>C" "r.(?)" "p.(Leu295Ser)" ""
"0000477398" "00007061" "50" "381" "-5" "381" "-5" "c.381-5T>C" "r.spl?" "p.?" ""
"0000504477" "00007061" "10" "2454" "0" "2454" "0" "c.2454C>T" "r.(?)" "p.(Asn818=)" ""
"0000504478" "00007061" "30" "2454" "0" "2454" "0" "c.2454C>T" "r.(?)" "p.(Asn818=)" ""
"0000504480" "00007061" "50" "2273" "0" "2273" "0" "c.2273G>C" "r.(?)" "p.(Gly758Ala)" ""
"0000504481" "00007061" "30" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Thr755=)" ""
"0000504484" "00007061" "30" "1787" "0" "1787" "0" "c.1787C>T" "r.(?)" "p.(Ser596Leu)" ""
"0000504485" "00007061" "30" "1782" "3" "1782" "3" "c.1782+3G>A" "r.spl?" "p.?" ""
"0000504486" "00007061" "50" "1745" "0" "1745" "0" "c.1745C>A" "r.(?)" "p.(Pro582His)" ""
"0000504487" "00007061" "10" "1743" "0" "1743" "0" "c.1743C>T" "r.(?)" "p.(Phe581=)" ""
"0000504488" "00007061" "30" "1485" "0" "1485" "0" "c.1485G>T" "r.(?)" "p.(Leu495=)" ""
"0000504490" "00007061" "30" "1335" "0" "1335" "0" "c.1335T>C" "r.(?)" "p.(Arg445=)" ""
"0000504491" "00007061" "30" "1169" "0" "1169" "0" "c.1169C>T" "r.(?)" "p.(Thr390Met)" ""
"0000504492" "00007061" "10" "787" "-16" "787" "-14" "c.787-16_787-14del" "r.(=)" "p.(=)" ""
"0000504493" "00007061" "30" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Pro240Leu)" ""
"0000504495" "00007061" "30" "286" "18" "286" "18" "c.286+18G>T" "r.(=)" "p.(=)" ""
"0000605028" "00007061" "30" "2649" "0" "2649" "0" "c.2649C>T" "r.(?)" "p.(Pro883=)" ""
"0000620452" "00007061" "30" "1893" "0" "1893" "0" "c.1893C>G" "r.(?)" "p.(Val631=)" ""
"0000675565" "00007061" "30" "2949" "0" "2949" "0" "c.2949A>G" "r.(?)" "p.(Ala983=)" ""
"0000675566" "00007061" "30" "2481" "0" "2481" "0" "c.2481C>T" "r.(?)" "p.(Arg827=)" ""
"0000675567" "00007061" "30" "2248" "0" "2248" "0" "c.2248G>A" "r.(?)" "p.(Ala750Thr)" ""
"0000675568" "00007061" "30" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(His93=)" ""
"0000710802" "00007061" "70" "107" "0" "107" "0" "c.107A>C" "r.(?)" "p.(Tyr36Ser)" "2"
"0000717038" "00007061" "70" "2281" "0" "2281" "0" "c.2281del" "r.(?)" "p.(Leu761SerfsTer102)" ""
"0000717039" "00007061" "50" "717" "0" "717" "0" "c.717C>G" "r.(?)" "p.(Asp239Glu)" ""
"0000717040" "00007061" "30" "381" "-6" "381" "-6" "c.381-6G>C" "r.(=)" "p.(=)" ""
"0000717041" "00007061" "50" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105Gln)" ""
"0000760073" "00007061" "50" "2641" "0" "2641" "0" "c.2641C>T" "r.(?)" "p.(Arg881Cys)" ""
"0000788310" "00007061" "50" "543" "0" "543" "0" "c.543del" "r.(?)" "p.(Tyr181Ter)" "6"
"0000788319" "00007061" "50" "2633" "0" "2633" "0" "c.2633T>G" "r.(?)" "p.(Leu878Arg)" "21"
"0000788339" "00007061" "50" "2008" "0" "2008" "0" "c.2008T>C" "r.(?)" "p.(Phe670Leu)" "17"
"0000788341" "00007061" "50" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(Asn203Ser)" "6"
"0000788355" "00007061" "50" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(Lys52Arg)" "2"
"0000791619" "00007061" "50" "1169" "0" "1169" "0" "c.1169C>T" "r.(?)" "p.(Thr390Met)" "11"
"0000791625" "00007061" "50" "1187" "0" "1187" "0" "c.1187A>C" "r.(?)" "p.(Glu396Ala)" "11"
"0000798959" "00007061" "30" "2203" "-5" "2203" "-4" "c.2203-5_2203-4del" "r.spl?" "p.?" ""
"0000834072" "00007061" "30" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Trp12Glyfs*5)" ""
"0000857184" "00007061" "70" "1089" "1" "1089" "1" "c.1089+1G>T" "r.spl?" "p.?" ""
"0000857185" "00007061" "30" "702" "0" "702" "0" "c.702C>T" "r.(?)" "p.(Val234=)" ""
"0000869498" "00007061" "70" "1212" "1" "1212" "1" "c.1212+1G>A" "r.spl?" "p.?" "11i"
"0000869499" "00007061" "50" "1201" "0" "1201" "0" "c.1201C>T" "r.(?)" "p.(Arg401Trp)" "11"
"0000869500" "00007061" "90" "2858" "0" "2858" "0" "c.2858T>C" "r.(?)" "p.(Phe953Ser)" "23"
"0000869501" "00007061" "90" "1134" "0" "1134" "0" "c.1134C>A" "r.(?)" "p.(Tyr378*)" "11"
"0000872451" "00007061" "70" "287" "-1" "287" "-1" "c.287-1G>A" "r.[286_287ins[286+1_287-2;a],286_287ins[287-91_287-2;a],287_310del,287_380del]" "p.[Asp96Glyfs*45,Asp96Glufs*22,Asp96_Gly103del,Asp96Valfs*14]" "3i"
"0000872452" "00007061" "70" "2588" "-771" "2588" "-771" "c.2588-771C>G" "r.2587_2588ins[2588-780_2588-772;g;2588-770_2588-663]" "p.Ile863Lysfs*27" "20i"
"0000882983" "00007061" "70" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Pro582Ser)" ""
"0000928080" "00007061" "30" "1058" "0" "1058" "0" "c.1058T>C" "r.(?)" "p.(Met353Thr)" ""
"0000947071" "00007061" "30" "787" "-13" "787" "-13" "c.787-13T>C" "r.(=)" "p.(=)" ""
"0000960697" "00007061" "30" "264" "0" "264" "0" "c.264T>C" "r.(?)" "p.(=)" ""
"0000973518" "00007061" "30" "1908" "0" "1908" "0" "c.1908C>T" "r.(?)" "p.(=)" ""
"0000973519" "00007061" "50" "1856" "0" "1856" "0" "c.1856del" "r.(?)" "p.(Leu619Argfs*24)" ""
"0000973520" "00007061" "50" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Arg339Gln)" ""
"0000973521" "00007061" "50" "717" "0" "717" "0" "c.717C>G" "r.(?)" "p.(Asp239Glu)" ""
"0000990654" "00007061" "30" "2642" "0" "2642" "0" "c.2642G>A" "r.(?)" "p.(Arg881His)" ""
"0000990655" "00007061" "30" "1948" "0" "1948" "0" "c.1948A>G" "r.(?)" "p.(Thr650Ala)" ""
"0000990656" "00007061" "50" "1554" "0" "1554" "0" "c.1554del" "r.(?)" "p.(Asn518Lysfs*18)" ""
"0000990657" "00007061" "30" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Ala286Thr)" ""
"0001031544" "00007061" "30" "2673" "-4" "2673" "-4" "c.2673-4G>A" "r.spl?" "p.?" ""
"0001031545" "00007061" "30" "2203" "-5" "2203" "-4" "c.2203-5_2203-4del" "r.spl?" "p.?" ""
"0001031546" "00007061" "50" "2128" "0" "2128" "0" "c.2128G>A" "r.(?)" "p.(Val710Met)" ""
"0001031547" "00007061" "30" "912" "0" "912" "0" "c.912G>T" "r.(?)" "p.(Gln304His)" ""
"0001031548" "00007061" "50" "700" "0" "700" "0" "c.700G>A" "r.(?)" "p.(Val234Ile)" ""
"0001049968" "00007061" "50" "2714" "0" "2715" "0" "c.2714_2715del" "r.(?)" "p.(His905Argfs*8)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 58
"{{screeningid}}" "{{variantid}}"
"0000059778" "0000090894"
"0000065387" "0000097060"
"0000065388" "0000097061"
"0000065389" "0000097062"
"0000065390" "0000097063"
"0000065391" "0000097064"
"0000065392" "0000097065"
"0000065394" "0000097066"
"0000103664" "0000167133"
"0000104349" "0000169029"
"0000144774" "0000788310"
"0000145015" "0000788319"
"0000232954" "0000475662"
"0000232955" "0000475663"
"0000232956" "0000475664"
"0000232957" "0000475665"
"0000232958" "0000475666"
"0000232959" "0000475667"
"0000232960" "0000475668"
"0000232961" "0000475669"
"0000232962" "0000475670"
"0000232963" "0000475671"
"0000232964" "0000475672"
"0000232965" "0000475673"
"0000232966" "0000475674"
"0000232967" "0000475675"
"0000232968" "0000475676"
"0000232969" "0000475677"
"0000232970" "0000475678"
"0000232971" "0000475679"
"0000232972" "0000475680"
"0000232973" "0000475681"
"0000232974" "0000475682"
"0000232975" "0000475683"
"0000232976" "0000475684"
"0000232977" "0000475685"
"0000232978" "0000475686"
"0000232979" "0000475687"
"0000234685" "0000477393"
"0000234686" "0000477394"
"0000234687" "0000477395"
"0000234688" "0000477396"
"0000234689" "0000477397"
"0000234690" "0000477398"
"0000325718" "0000710802"
"0000360211" "0000760073"
"0000376611" "0000788339"
"0000376613" "0000788341"
"0000376627" "0000788355"
"0000378734" "0000791619"
"0000378736" "0000791625"
"0000401031" "0000834072"
"0000412231" "0000869498"
"0000412231" "0000869499"
"0000412232" "0000869500"
"0000412232" "0000869501"
"0000414740" "0000872451"
"0000414740" "0000872452"