### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = VSX1)
# 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}}"
"VSX1" "visual system homeobox 1" "20" "p11.21" "unknown" "NG_008101.3" "UD_134408310123" "" "https://www.LOVD.nl/VSX1" "" "1" "12723" "30813" "605020" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/VSX1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2011-07-07 00:00:00" "00006" "2020-11-26 19:45:43" "00000" "2024-08-28 13:16:32"
## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00022678" "VSX1" "transcript variant 3" "001" "NM_001256271.1" "" "NP_001243200.1" "" "" "" "-283" "1761" "711" "25063015" "25051521" "" "0000-00-00 00:00:00" "" ""
"00023860" "VSX1" "transcript variant 1" "005" "NM_014588.5" "" "NP_055403.2" "" "" "" "-283" "1923" "1098" "25063015" "25056072" "00008" "2013-11-25 15:19:05" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"01029" "KTCN" "keratoconus (KTCN)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-14 12:41:56"
"01031" "CAASDS" "craniofacial anomalies and anterior segment dysgenesis syndrome (CAASDS" "" "614195" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-12-08 23:59:30"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"05568" "KCTN1" "keratoconus, type 1 (KTCN-1)" "AD" "148300" "" "" "" "00006" "2019-02-14 12:42:52" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"VSX1" "01029"
"VSX1" "01031"
"VSX1" "05568"
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00037403" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00037404" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00088082" "" "" "" "1" "" "01164" "" "" "F" "?" "Germany" "" "0" "" "" "" ""
"00292896" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292897" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00292898" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00415195" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "VSX1 proband, parental DNA not available" "M" "" "" "" "0" "" "" "Mexican" "5"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00088082" "01029"
"00292896" "00198"
"00292897" "00198"
"00292898" "00198"
"00415195" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01029, 01031, 04214, 05568
## Count = 2
"{{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}}"
"0000067588" "01029" "00088082" "01164" "Unknown" "" "Keratoconus, atopic disease,celiac disease" "" "32" "" "" "" "" "" "" "" "" ""
"0000306993" "04214" "00415195" "00000" "Isolated (sporadic)" "15y" "bilateral anterior segment dysgenesis; microphthalmia left eye; cataract left eye" "" "" "" "" "" "" "" "" "microphthalmia" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000037473" "00037403" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000037474" "00037404" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000088222" "00088082" "1" "01164" "01164" "2014-10-15 12:57:27" "" "" "SEQ" "DNA" "" ""
"0000294064" "00292896" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294065" "00292897" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294066" "00292898" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000416477" "00415195" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}" "{{geneid}}"
"0000037473" "VSX1"
"0000037474" "VSX1"
"0000088222" "VSX1"
"0000416477" "VSX1"
## 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 = 23
"{{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}}"
"0000064598" "1" "10" "20" "25059442" "25059442" "subst" "0.210547" "01164" "VSX1_000002" "g.25059442C>T" "" "" "" "" "" "Germline" "" "rs6138482" "0" "" "" "g.25078806C>T" "" "benign" ""
"0000064599" "1" "10" "20" "25059546" "25059546" "subst" "0.258465" "01164" "VSX1_000001" "g.25059546T>C" "" "" "" "" "" "Germline" "" "rs12480307" "0" "" "" "g.25078910T>C" "" "benign" ""
"0000141555" "0" "10" "20" "25059546" "25059546" "subst" "0.258465" "01164" "VSX1_000001" "g.25059546T>C" "MAF C=0.2516/548" "" "" "NM_014588.4:c.546A>G" "nc transcript variant, synonymous codon" "Unknown" "" "rs12480307" "0" "" "" "g.25078910T>C" "" "benign" ""
"0000141556" "0" "10" "20" "25059442" "25059442" "subst" "0.210547" "01164" "VSX1_000002" "g.25059442C>T" "MAF T=0.2645/576" "" "" "NM_014588.4:c.627+23G>A" "" "Unknown" "" "rs6138482" "0" "" "" "g.25078806C>T" "" "benign" ""
"0000313039" "0" "10" "20" "25059442" "25059442" "subst" "0.210547" "02325" "VSX1_000002" "g.25059442C>T" "" "" "" "VSX1(NM_199425.3):c.650G>A (p.R217H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25078806C>T" "" "benign" ""
"0000569244" "0" "30" "20" "25057155" "25057155" "subst" "0" "01943" "VSX1_000003" "g.25057155C>T" "" "" "" "VSX1(NM_014588.5):c.840G>A (p.R280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25076519C>T" "" "likely benign" ""
"0000569245" "0" "30" "20" "25058398" "25058398" "subst" "0.0026445" "02325" "VSX1_000004" "g.25058398T>C" "" "" "" "VSX1(NM_001256272.2):c.731A>G (p.H244R), VSX1(NM_014588.5):c.731A>G (p.(His244Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25077762T>C" "" "likely benign" ""
"0000569246" "0" "30" "20" "25060079" "25060079" "subst" "3.28604E-5" "01943" "VSX1_000005" "g.25060079G>T" "" "" "" "VSX1(NM_001256272.1):c.496C>A (p.R166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25079443G>T" "" "likely benign" ""
"0000569247" "0" "30" "20" "25060096" "25060096" "subst" "0.0019479" "01943" "VSX1_000006" "g.25060096C>T" "" "" "" "VSX1(NM_001256272.1):c.479G>A (p.G160D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25079460C>T" "" "likely benign" ""
"0000569248" "0" "50" "20" "25062572" "25062572" "subst" "0" "01943" "VSX1_000007" "g.25062572C>A" "" "" "" "VSX1(NM_001256272.1):c.161G>T (p.G54V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25081936C>A" "" "VUS" ""
"0000624131" "0" "90" "20" "25057178" "25057178" "del" "0" "01943" "VSX1_000008" "g.25057178del" "" "" "" "VSX1(NM_014588.5):c.822delA (p.K274Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25076542del" "" "pathogenic" ""
"0000650753" "1" "30" "20" "25056697" "25056697" "subst" "0" "03575" "VSX1_000009" "g.25056697C>A" "47/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "47 heterozygous, no homozygous; {DB:CLININrs75590263}" "Germline" "" "rs75590263" "0" "" "" "g.25076061C>A" "" "likely benign" ""
"0000650754" "1" "30" "20" "25060078" "25060078" "subst" "0.000131489" "03575" "VSX1_000010" "g.25060078C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs150297220}" "Germline" "" "rs150297220" "0" "" "" "g.25079442C>T" "" "likely benign" ""
"0000650755" "1" "90" "20" "25060079" "25060079" "subst" "2.05378E-5" "03575" "VSX1_000011" "g.25060079G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs74315432}" "Germline" "" "rs74315432" "0" "" "" "g.25079443G>A" "" "pathogenic" ""
"0000692946" "0" "50" "20" "25058389" "25058389" "subst" "0.000496167" "01943" "VSX1_000012" "g.25058389G>C" "" "" "" "VSX1(NM_001256272.1):c.740C>G (p.P247R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000727627" "0" "50" "20" "25060087" "25060087" "subst" "0" "01943" "VSX1_000013" "g.25060087T>C" "" "" "" "VSX1(NM_014588.5):c.488A>G (p.K163R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809178" "0" "50" "20" "25058335" "25058335" "subst" "0" "01943" "VSX1_000014" "g.25058335G>T" "" "" "" "VSX1(NM_001256272.1):c.794C>A (p.A265E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809179" "0" "30" "20" "25062496" "25062496" "subst" "0" "01943" "VSX1_000015" "g.25062496C>T" "" "" "" "VSX1(NM_001256272.1):c.237G>A (p.P79=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000809180" "0" "50" "20" "25062683" "25062683" "subst" "0.000115893" "01943" "VSX1_000016" "g.25062683A>G" "" "" "" "VSX1(NM_001256272.1):c.50T>C (p.L17P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809181" "0" "50" "20" "25062701" "25062701" "subst" "0" "01943" "VSX1_000017" "g.25062701C>T" "" "" "" "VSX1(NM_001256272.1):c.32G>A (p.R11H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855777" "0" "30" "20" "25059564" "25059564" "subst" "0.000605037" "01943" "VSX1_000018" "g.25059564C>T" "" "" "" "VSX1(NM_001256272.1):c.528G>A (p.L176=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000874582" "0" "70" "20" "25059577" "25059577" "subst" "0" "00000" "VSX1_000019" "g.25059577G>A" "" "{PMID:Matias-Perez 2018:30181649}" "" "VSX1 c.515C>T, p.Thr172Ile" "heterozygous" "Unknown" "?" "" "0" "" "" "g.25078941G>A" "" "likely pathogenic" ""
"0001005302" "0" "30" "20" "25058398" "25058398" "subst" "0.0026445" "01804" "VSX1_000004" "g.25058398T>C" "" "" "" "VSX1(NM_001256272.2):c.731A>G (p.H244R), VSX1(NM_014588.5):c.731A>G (p.(His244Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
## 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 VSX1
## Count = 42
"{{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}}"
"0000064598" "00023860" "10" "627" "23" "627" "23" "c.627+23G>A" "r.(=)" "p.(=)" ""
"0000064599" "00023860" "10" "546" "0" "546" "0" "c.546A>G" "r.(=)" "p.(=)" ""
"0000141555" "00023860" "10" "546" "0" "546" "0" "c.546A>G" "r.(=)" "p.(=)" "3"
"0000141556" "00023860" "10" "627" "23" "627" "23" "c.627+23G>A" "r.(=)" "p.(=)" "3i"
"0000313039" "00023860" "10" "627" "23" "627" "23" "c.627+23G>A" "r.(=)" "p.(=)" ""
"0000313039" "00022678" "10" "627" "23" "627" "23" "c.627+23G>A" "r.(=)" "p.(=)" ""
"0000569244" "00023860" "30" "840" "0" "840" "0" "c.840G>A" "r.(?)" "p.(Arg280=)" ""
"0000569244" "00022678" "30" "627" "2310" "627" "2310" "c.627+2310G>A" "r.(=)" "p.(=)" ""
"0000569245" "00023860" "30" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(His244Arg)" ""
"0000569245" "00022678" "30" "627" "1067" "627" "1067" "c.627+1067A>G" "r.(=)" "p.(=)" ""
"0000569246" "00023860" "30" "496" "0" "496" "0" "c.496C>A" "r.(?)" "p.(Arg166=)" ""
"0000569246" "00022678" "30" "496" "0" "496" "0" "c.496C>A" "r.(?)" "p.(Arg166=)" ""
"0000569247" "00023860" "30" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Gly160Asp)" ""
"0000569247" "00022678" "30" "479" "0" "479" "0" "c.479G>A" "r.(?)" "p.(Gly160Asp)" ""
"0000569248" "00023860" "50" "161" "0" "161" "0" "c.161G>T" "r.(?)" "p.(Gly54Val)" ""
"0000569248" "00022678" "50" "161" "0" "161" "0" "c.161G>T" "r.(?)" "p.(Gly54Val)" ""
"0000624131" "00023860" "90" "822" "0" "822" "0" "c.822del" "r.(?)" "p.(Lys274AsnfsTer5)" ""
"0000624131" "00022678" "90" "627" "2292" "627" "2292" "c.627+2292del" "r.(=)" "p.(=)" ""
"0000650753" "00023860" "30" "1298" "0" "1298" "0" "c.*200G>T" "r.(=)" "p.(=)" ""
"0000650753" "00022678" "30" "627" "2768" "627" "2768" "c.627+2768G>T" "r.(=)" "p.(=)" ""
"0000650754" "00023860" "30" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" ""
"0000650754" "00022678" "30" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Arg166Gln)" ""
"0000650755" "00023860" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" ""
"0000650755" "00022678" "90" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Trp)" ""
"0000692946" "00023860" "50" "740" "0" "740" "0" "c.740C>G" "r.(?)" "p.(Pro247Arg)" ""
"0000692946" "00022678" "50" "627" "1076" "627" "1076" "c.627+1076C>G" "r.(=)" "p.(=)" ""
"0000727627" "00023860" "50" "488" "0" "488" "0" "c.488A>G" "r.(?)" "p.(Lys163Arg)" ""
"0000727627" "00022678" "50" "488" "0" "488" "0" "c.488A>G" "r.(?)" "p.(Lys163Arg)" ""
"0000809178" "00023860" "50" "794" "0" "794" "0" "c.794C>A" "r.(?)" "p.(Ala265Glu)" ""
"0000809178" "00022678" "50" "627" "1130" "627" "1130" "c.627+1130C>A" "r.(=)" "p.(=)" ""
"0000809179" "00023860" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Pro79=)" ""
"0000809179" "00022678" "30" "237" "0" "237" "0" "c.237G>A" "r.(?)" "p.(Pro79=)" ""
"0000809180" "00023860" "50" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" ""
"0000809180" "00022678" "50" "50" "0" "50" "0" "c.50T>C" "r.(?)" "p.(Leu17Pro)" ""
"0000809181" "00023860" "50" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Arg11His)" ""
"0000809181" "00022678" "50" "32" "0" "32" "0" "c.32G>A" "r.(?)" "p.(Arg11His)" ""
"0000855777" "00023860" "30" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(Leu176=)" ""
"0000855777" "00022678" "30" "528" "0" "528" "0" "c.528G>A" "r.(?)" "p.(Leu176=)" ""
"0000874582" "00023860" "70" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Thr172Ile)" ""
"0000874582" "00022678" "70" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Thr172Ile)" "0"
"0001005302" "00023860" "30" "731" "0" "731" "0" "c.731A>G" "r.(?)" "p.(His244Arg)" ""
"0001005302" "00022678" "30" "627" "1067" "627" "1067" "c.627+1067A>G" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}" "{{variantid}}"
"0000037473" "0000064598"
"0000037474" "0000064599"
"0000088222" "0000141555"
"0000088222" "0000141556"
"0000294064" "0000650753"
"0000294065" "0000650754"
"0000294066" "0000650755"
"0000416477" "0000874582"