### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = UNC119)
# 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}}"
"UNC119" "unc-119 homolog (C. elegans)" "17" "q11.2" "unknown" "NG_012302.1" "UD_132118610822" "" "https://www.LOVD.nl/UNC119" "" "1" "12565" "9094" "604011" "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/UNC119_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-06 00:00:00" "00006" "2017-06-16 15:26:24" "00000" "2026-01-20 18:57:21"
## 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}}"
"00022394" "UNC119" "transcript variant 1" "001" "NM_005148.3" "" "NP_005139.1" "" "" "" "-71" "1313" "723" "26879646" "26873725" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"03984" "IMD13" "immunodeficiency, type 13 (IMD-13)" "AD" "615518" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" ""
"07115" "CORD14" "cone-rod dystrophy, type 14" "AD" "620342" "" "" "" "00006" "2024-11-11 21:35:31" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"UNC119" "03984"
"UNC119" "07115"
## Individuals ## Do not remove or alter this header ##
## Count = 10
"{{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}}"
"00105020" "" "" "" "1" "" "01244" "{PMID:de Castro-Miró 2016:28005958}" "" "F" "no" "Argentina" "" "0" "" "" "" "82ORG1"
"00362074" "" "" "" "1" "" "00006" "{PMID:Huang 2013:23563732}, {PMID:Huang 2016:26992781}" "2-generation family, 1 affected" "M" "" "China" "" "0" "" "" "" "Fam4;QT480"
"00372720" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "" "" "" "China" "" "0" "" "" "" "RP277"
"00375415" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#007"
"00375427" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#021"
"00384288" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13480"
"00393720" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" ""
"00408389" "" "" "" "1" "" "03468" "" "" "" "" "" "" "" "" "" "" ""
"00413581" "" "" "" "1" "" "00000" "{PMID:Kobayashi 2000:11006213}" "proband" "F" "" "" "" "0" "" "" "" "?"
"00413582" "" "" "" "1" "" "00000" "{PMID:Kobayashi 2000:11006213}" "proband\'s daughter" "F" "" "" "" "0" "" "" "" "?"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 10
"{{individualid}}" "{{diseaseid}}"
"00105020" "04214"
"00362074" "04214"
"00372720" "04214"
"00375415" "04214"
"00375427" "04214"
"00384288" "04214"
"00393720" "04214"
"00408389" "05412"
"00413581" "04214"
"00413582" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 03984, 04214, 05412, 07115
## Count = 9
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000082911" "04214" "00105020" "01244" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa"
"0000257488" "04214" "00362074" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "cone-rod dystrophy"
"0000267999" "04214" "00372720" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "retinitis pigmentosa"
"0000270629" "04214" "00375415" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "retinitis pigmentosa"
"0000270641" "04214" "00375427" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "retinitis pigmentosa"
"0000278073" "04214" "00384288" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy? Optic demyelination"
"0000286926" "04214" "00393720" "00000" "Isolated (sporadic)" "27y" "" "" "" "" "" "" "" "" "Leber Congenital Amaurosis (LCA)"
"0000305554" "04214" "00413581" "00000" "Familial, autosomal dominant" "57y" "late-onset cone-rod dystrophy; reduced visual acuity (20/40), myopia, macular atrophy, pericentral ring scotomas, electroretinogram consistent with cone-rod dystrophy" "40y" "" "poor night vision, defective color vision, light sensitivity" "" "" "" "CORD24" "cone-rod dystrophy"
"0000305555" "04214" "00413582" "00000" "Familial, autosomal dominant" "36y" "late-onset cone-rod dystrophy; seeing bright flashes from young age, also experienced by mother, does not yet demonstrate clear-cut electroretinogramabnormalities, probably because of young age for late-onset" "" "" "" "" "" "" "CORD24" "cone-rod dystrophy"
## Screenings ## Do not remove or alter this header ##
## Count = 10
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000105494" "00105020" "1" "01244" "01244" "2017-06-15 14:47:48" "" "" "SEQ-NG-I" "DNA" "Whole blood" ""
"0000363303" "00362074" "1" "00006" "00006" "2021-04-15 14:35:20" "" "" "SEQ" "DNA" "" ""
"0000373952" "00372720" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000376612" "00375415" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376624" "00375427" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000385513" "00384288" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes"
"0000394968" "00393720" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)"
"0000409646" "00408389" "1" "03468" "03468" "2022-04-20 21:17:09" "" "" "SEQ-NG" "DNA" "" ""
"0000414860" "00413581" "1" "00000" "03840" "2022-07-19 14:18:03" "" "" "DGGE;SEQ" "DNA" "blood" ""
"0000414861" "00413582" "1" "00000" "03840" "2022-07-19 14:18:03" "" "" "DGGE" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000363303" "UNC119"
"0000385513" "UNC119"
"0000394968" "UNC119"
"0000409646" "UNC119"
"0000414860" "UNC119"
"0000414861" "UNC119"
## 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 = 31
"{{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}}"
"0000170928" "0" "90" "17" "26879570" "26879570" "del" "0" "01244" "UNC119_000001" "g.26879570del" "" "{PMID:de Castro-Miró 2016:28005958}" "" "" "" "Germline" "" "" "0" "" "" "g.28552552del" "" "likely pathogenic" "ACMG"
"0000311113" "0" "10" "17" "26875677" "26875677" "subst" "0.000974659" "02330" "UNC119_000004" "g.26875677G>C" "" "" "" "UNC119(NM_054035.2):c.267C>G (p.V89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28548659G>C" "" "benign" ""
"0000311114" "0" "10" "17" "26879511" "26879511" "subst" "0.00152773" "02330" "UNC119_000006" "g.26879511C>A" "" "" "" "UNC119(NM_054035.2):c.65G>T (p.G22V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28552493C>A" "" "benign" ""
"0000319290" "0" "30" "17" "26875710" "26875710" "subst" "0.000674544" "01943" "UNC119_000005" "g.26875710G>A" "" "" "" "UNC119(NM_054035.2):c.234C>T (p.S78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28548692G>A" "" "likely benign" ""
"0000319291" "0" "50" "17" "26874803" "26874803" "subst" "0.000633482" "01943" "UNC119_000003" "g.26874803G>A" "" "" "" "UNC119(NM_054035.2):c.502C>T (p.R168C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28547785G>A" "" "VUS" ""
"0000319292" "0" "50" "17" "26874686" "26874686" "subst" "0" "01943" "UNC119_000002" "g.26874686C>A" "" "" "" "UNC119(NM_054035.2):c.619G>T (p.A207S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.28547668C>A" "" "VUS" ""
"0000560721" "0" "30" "17" "26874705" "26874705" "subst" "7.31042E-5" "01943" "UNC119_000007" "g.26874705G>A" "" "" "" "UNC119(NM_054035.2):c.600C>T (p.S200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28547687G>A" "" "likely benign" ""
"0000560722" "0" "30" "17" "26874803" "26874803" "subst" "0.000633482" "02330" "UNC119_000003" "g.26874803G>A" "" "" "" "UNC119(NM_054035.2):c.502C>T (p.R168C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28547785G>A" "" "likely benign" ""
"0000560723" "0" "50" "17" "26874803" "26874803" "subst" "0.000633482" "02325" "UNC119_000003" "g.26874803G>A" "" "" "" "UNC119(NM_054035.2):c.502C>T (p.R168C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28547785G>A" "" "VUS" ""
"0000560724" "0" "50" "17" "26875066" "26875066" "subst" "2.44137E-5" "02330" "UNC119_000008" "g.26875066G>A" "" "" "" "UNC119(NM_054035.2):c.388C>T (p.R130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28548048G>A" "" "VUS" ""
"0000560725" "0" "30" "17" "26875677" "26875677" "subst" "0.000974659" "01943" "UNC119_000004" "g.26875677G>C" "" "" "" "UNC119(NM_054035.2):c.267C>G (p.V89=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28548659G>C" "" "likely benign" ""
"0000560728" "0" "30" "17" "26879519" "26879519" "subst" "0" "02326" "PIGS_000007" "g.26879519C>T" "" "" "" "UNC119(NM_054035.2):c.57G>A (p.G19=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28552501C>T" "" "likely benign" ""
"0000616438" "0" "30" "17" "26874375" "26874375" "subst" "0.00124262" "02330" "UNC119_000009" "g.26874375G>A" "" "" "" "UNC119(NM_005148.4):c.663C>T (p.F221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28547357G>A" "" "likely benign" ""
"0000616439" "0" "30" "17" "26874439" "26874439" "subst" "8.97256E-5" "02330" "UNC119_000010" "g.26874439G>A" "" "" "" "UNC119(NM_054035.2):c.*203C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28547421G>A" "" "likely benign" ""
"0000616440" "0" "30" "17" "26875710" "26875710" "subst" "0.000674544" "02330" "UNC119_000005" "g.26875710G>A" "" "" "" "UNC119(NM_054035.2):c.234C>T (p.S78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.28548692G>A" "" "likely benign" ""
"0000726245" "0" "50" "17" "26874364" "26874364" "subst" "2.03049E-5" "01943" "UNC119_000011" "g.26874364C>T" "" "" "" "UNC119(NM_001330166.1):c.389G>A (p.R130Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000726246" "0" "50" "17" "26875053" "26875053" "subst" "1.22005E-5" "01943" "UNC119_000012" "g.26875053G>A" "" "" "" "UNC119(NM_054035.2):c.401C>T (p.T134M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000763880" "1" "70" "17" "26875685" "26875685" "subst" "0.000125898" "00006" "UNC119_000013" "g.26875685C>T" "" "{PMID:Huang 2013:23563732}, {PMID:Huang 2016:26992781}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.28548667C>T" "" "likely pathogenic (dominant)" ""
"0000784633" "0" "50" "17" "26875038" "26875038" "subst" "6.91405E-5" "00000" "UNC119_000014" "g.26875038C>T" "1/314 case chromosomes" "{PMID:Xu 2015:25999675}" "" "" "2/1266 control chromosomes" "Germline" "" "rs201337554" "0" "" "" "g.28548020C>T" "" "VUS" ""
"0000788393" "0" "50" "17" "26875038" "26875038" "subst" "6.91405E-5" "00000" "UNC119_000014" "g.26875038C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G416A" "" "Germline" "" "rs201337554" "0" "" "" "g.28548020C>T" "" "VUS" ""
"0000788463" "0" "50" "17" "26875038" "26875038" "subst" "6.91405E-5" "00000" "UNC119_000014" "g.26875038C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G416A" "" "Germline" "" "rs201337554" "0" "" "" "g.28548020C>T" "" "VUS" ""
"0000807855" "0" "50" "17" "26875017" "26875017" "subst" "8.13703E-6" "02330" "UNC119_000015" "g.26875017G>A" "" "" "" "UNC119(NM_054035.2):c.437C>T (p.T146M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000812589" "0" "50" "17" "26875038" "26875038" "subst" "6.91405E-5" "00000" "UNC119_000014" "g.26875038C>T" "" "{PMID:Wang 2019:31106028}" "" "c.416C>T, p.(Arg139His)" "error in annotation: c.416C>T instead of c.416G>A, heterozygous" "Germline" "?" "" "0" "" "" "g.28548020C>T" "" "VUS" ""
"0000826092" "0" "70" "17" "26874706" "26874706" "subst" "0" "00000" "UNC119_000016" "g.26874706T>C" "" "{PMID:Liu-2020:33090715}" "" "c.599A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000826093" "0" "70" "17" "26875084" "26875084" "subst" "9.36444E-5" "00000" "UNC119_000017" "g.26875084T>C" "" "{PMID:Liu-2020:33090715}" "" "c.370A>G" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000846838" "0" "70" "17" "26874704" "26874704" "subst" "0" "03468" "UNC119_000018" "g.26874704C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG"
"0000854793" "0" "50" "17" "26881426" "26881426" "subst" "0.000147454" "01943" "PIGS_000008" "g.26881426C>A" "" "" "" "PIGS(NM_033198.4):c.1480G>T (p.A494S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000872572" "0" "50" "17" "26879407" "26879407" "subst" "8.81547E-5" "00000" "PIGS_000006" "g.26879407T>A" "" "{PMID:Kobayashi 2000:11006213}" "" "HRG4 A-to-T transition in codon 57, changing a lysine to a premature termination codon" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "rs267607166" "0" "" "" "g.28552389T>A" "" "VUS" ""
"0000872573" "21" "50" "17" "26879407" "26879407" "subst" "8.81547E-5" "00000" "PIGS_000006" "g.26879407T>A" "" "{PMID:Kobayashi 2000:11006213}" "" "HRG4 A-to-T transition in codon 57, changing a lysine to a premature termination codon" "heterozygous; no nucleotide annotation, extrapolated from protein, sequence and databases" "Germline" "yes" "rs267607166" "0" "" "" "g.28552389T>A" "" "VUS" ""
"0001041707" "0" "50" "17" "26881942" "26881942" "subst" "1.22062E-5" "01804" "PIGS_000010" "g.26881942G>A" "" "" "" "PIGS(NM_033198.4):c.1319C>T (p.(Thr440Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001066675" "0" "50" "17" "26883921" "26883921" "subst" "4.06147E-6" "01804" "PIGS_000011" "g.26883921G>A" "" "" "" "PIGS(NM_033198.4):c.1004C>T (p.(Pro335Leu))" "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 UNC119
## Count = 31
"{{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}}"
"0000170928" "00022394" "90" "7" "0" "7" "0" "c.7del" "r.(?)" "p.(Val3*)" "1"
"0000311113" "00022394" "10" "267" "0" "267" "0" "c.267C>G" "r.(?)" "p.(Val89=)" ""
"0000311114" "00022394" "10" "65" "0" "65" "0" "c.65G>T" "r.(?)" "p.(Gly22Val)" ""
"0000319290" "00022394" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Ser78=)" ""
"0000319291" "00022394" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" ""
"0000319292" "00022394" "50" "610" "9" "610" "9" "c.610+9G>T" "r.(=)" "p.(=)" ""
"0000560721" "00022394" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Ser200=)" ""
"0000560722" "00022394" "30" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" ""
"0000560723" "00022394" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" ""
"0000560724" "00022394" "50" "388" "0" "388" "0" "c.388C>T" "r.(?)" "p.(Arg130Cys)" ""
"0000560725" "00022394" "30" "267" "0" "267" "0" "c.267C>G" "r.(?)" "p.(Val89=)" ""
"0000560728" "00022394" "30" "57" "0" "57" "0" "c.57G>A" "r.(?)" "p.(Gly19=)" ""
"0000616438" "00022394" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(Phe221=)" ""
"0000616439" "00022394" "30" "611" "-12" "611" "-12" "c.611-12C>T" "r.(=)" "p.(=)" ""
"0000616440" "00022394" "30" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Ser78=)" ""
"0000726245" "00022394" "50" "674" "0" "674" "0" "c.674G>A" "r.(?)" "p.(Arg225Gln)" ""
"0000726246" "00022394" "50" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Thr134Met)" ""
"0000763880" "00022394" "70" "259" "0" "259" "0" "c.259G>A" "r.(?)" "p.(Asp87Asn)" ""
"0000784633" "00022394" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" ""
"0000788393" "00022394" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "3"
"0000788463" "00022394" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "3"
"0000807855" "00022394" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Thr146Met)" ""
"0000812589" "00022394" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" ""
"0000826092" "00022394" "70" "599" "0" "599" "0" "c.599A>G" "r.(?)" "p.?" "4"
"0000826093" "00022394" "70" "370" "0" "370" "0" "c.370A>G" "r.(?)" "p.(Asn124Asp)" "3"
"0000846838" "00022394" "70" "601" "0" "601" "0" "c.601G>T" "r.(601g>u)" "p.(Glu201*)" ""
"0000854793" "00022394" "50" "-1851" "0" "-1851" "0" "c.-1851G>T" "r.(?)" "p.(=)" ""
"0000872572" "00022394" "50" "169" "0" "169" "0" "c.169A>T" "r.(?)" "p.(Lys57*)" "5"
"0000872573" "00022394" "50" "169" "0" "169" "0" "c.169A>T" "r.(?)" "p.(Lys57*)" "5"
"0001041707" "00022394" "50" "-2367" "0" "-2367" "0" "c.-2367C>T" "r.(?)" "p.(=)" ""
"0001066675" "00022394" "50" "-4346" "0" "-4346" "0" "c.-4346C>T" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}" "{{variantid}}"
"0000105494" "0000170928"
"0000363303" "0000763880"
"0000373952" "0000784633"
"0000376612" "0000788393"
"0000376624" "0000788463"
"0000385513" "0000812589"
"0000394968" "0000826092"
"0000394968" "0000826093"
"0000409646" "0000846838"
"0000414860" "0000872572"
"0000414861" "0000872573"