### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FLVCR1)
# 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}}"
"FLVCR1" "feline leukemia virus subgroup C cellular receptor 1" "1" "q32.3" "unknown" "NG_028131.1" "UD_132118284178" "" "https://www.LOVD.nl/FLVCR1" "" "1" "24682" "28982" "609144" "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/FLVCR1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2020-11-20 17:33:01" "00000" "2026-03-13 13:38:03"
## 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}}"
"00008013" "FLVCR1" "feline leukemia virus subgroup C cellular receptor 1" "001" "NM_014053.3" "" "NP_054772.1" "" "" "" "-198" "5741" "1668" "213031597" "213072705" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{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"
"02814" "AXPC1" "ataxia, posterior column, with retinitis pigmentosa (AXPC1)" "AR" "609033" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-20 17:35:05"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"FLVCR1" "02814"
## Individuals ## Do not remove or alter this header ##
## Count = 30
"{{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}}"
"00333425" "" "" "" "1" "" "00000" "{PMID:Wang 2017:28838317}" "" "" "" "United States" "" "0" "" "" "" "RD4–03"
"00333834" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "30"
"00333835" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "31"
"00334103" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "640"
"00334104" "" "" "" "4" "" "00000" "{PMID:Stone 2017:28559085}" "family, 4 affected" "F" "" "(United States)" "" "0" "" "" "" "641"
"00335974" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00358952" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71882"
"00358967" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case71315"
"00358968" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case29303"
"00373499" "" "" "" "1" "" "00000" "{PMID:Liu 2015:25611614}" "" "F" "" "China" "" "0" "" "" "" "RH13-PatII1"
"00376767" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "29"
"00382546" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "408"
"00386175" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-131, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-288"
"00386575" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "003-061"
"00386583" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "003-273"
"00386613" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-043"
"00387391" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "F" "" "China" "" "0" "" "" "" "11"
"00389120" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 131, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "404"
"00389555" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 347, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "839"
"00389625" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 387, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "909"
"00389626" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 387, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "910"
"00389802" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 723, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1086"
"00389881" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 833, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1165"
"00389982" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 1070, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "1266"
"00395599" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-2238"
"00396655" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "M" "" "Japan" "" "0" "" "" "Japanese" ""
"00408982" "" "" "" "1" "" "00000" "{PMID:Puffenberger 2012:22279524}" "no patient number in publication, consecutive numbers given" "?" "" "" "" "0" "" "" "Old Order Amish and Mennonite" "11"
"00446971" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-347"
"00446976" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ARRP-387"
"00447019" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "ARRP-488"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 30
"{{individualid}}" "{{diseaseid}}"
"00333425" "04214"
"00333834" "04214"
"00333835" "04214"
"00334103" "04214"
"00334104" "04214"
"00335974" "04214"
"00358952" "04214"
"00358967" "04214"
"00358968" "04214"
"00373499" "04214"
"00376767" "04214"
"00382546" "04214"
"00386175" "04214"
"00386575" "04214"
"00386583" "04214"
"00386613" "04214"
"00387391" "04214"
"00389120" "04214"
"00389555" "04214"
"00389625" "04214"
"00389626" "04214"
"00389802" "04214"
"00389881" "04214"
"00389982" "04214"
"00395599" "04214"
"00396655" "04214"
"00408982" "02814"
"00446971" "00198"
"00446976" "00198"
"00447019" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02814, 04214
## Count = 30
"{{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}}"
"0000251612" "04214" "00333425" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "RP" ""
"0000252019" "04214" "00333834" "00000" "Familial, autosomal recessive" "10y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252020" "04214" "00333835" "00000" "Familial, autosomal recessive" "52y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000252288" "04214" "00334103" "00000" "Familial, autosomal recessive" "32y" "clinical category IB7" "" "" "" "" "" "" "" "" "" "syndromic retinitis pigmentosa(Ataxia)" ""
"0000252289" "04214" "00334104" "00000" "Familial, autosomal recessive" "29y" "clinical category IB7" "" "" "" "" "" "" "" "" "" "syndromic retinitis pigmentosa(Ataxia)" ""
"0000253889" "04214" "00335974" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" ""
"0000254250" "04214" "00358952" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000254265" "04214" "00358967" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000254266" "04214" "00358968" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268775" "04214" "00373499" "00000" "Familial, autosomal recessive" "29y" "see paper; ..." "4y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000271978" "04214" "00376767" "00000" "Familial, autosomal recessive" "36y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000276395" "04214" "00382546" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt Disease" ""
"0000279978" "04214" "00386175" "00000" "Familial, autosomal recessive" "44y" "" "" "38y" "" "" "" "" "" "" "retinitis pigmentosa" "" ""
"0000280375" "04214" "00386575" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280383" "04214" "00386583" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280413" "04214" "00386613" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000280954" "04214" "00387391" "00000" "Familial, autosomal recessive" "56y" "posterior subcapsular cataract, peripheral choroidal atrophy, negative family history, BCVA OD/OS: FC/HM, hearing loss" "30y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" ""
"0000282661" "04214" "00389120" "00000" "Isolated (sporadic)" "60y" "age at genetic diagnosis mentioned" "" "60y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" ""
"0000283096" "04214" "00389555" "00000" "Familial, autosomal recessive" "23y" "age at genetic diagnosis mentioned" "" "21y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" ""
"0000283166" "04214" "00389625" "00000" "Familial, autosomal recessive" "56y" "age at genetic diagnosis mentioned" "" "52y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" ""
"0000283167" "04214" "00389626" "00000" "Familial, autosomal recessive" "59y" "age at genetic diagnosis mentioned" "" "55y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" ""
"0000283343" "04214" "00389802" "00000" "Isolated (sporadic)" "30y" "age at genetic diagnosis mentioned" "" "23y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" ""
"0000283422" "04214" "00389881" "00000" "Isolated (sporadic)" "47y" "age at genetic diagnosis mentioned" "" "43y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" ""
"0000283523" "04214" "00389982" "00000" "Isolated (sporadic)" "38y" "age at genetic diagnosis mentioned" "" "37y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" ""
"0000288797" "04214" "00395599" "00000" "Familial, autosomal recessive" "" "rod-cone dystrophy, ataxia" "" "" "" "" "" "" "" "" "retinitis pigmentosa, ataxia" "" ""
"0000289816" "04214" "00396655" "00000" "Familial, autosomal recessive" "59y" "" "52y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" ""
"0000301100" "02814" "00408982" "00000" "Familial, autosomal recessive" "" "impaired proprioception; retinitis pigmentosa" "" "" "" "" "" "" "" "" "ataxia, posterior column, with retinitis pigmentosa (AXPC1)" "" ""
"0000336170" "00198" "00446971" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336175" "00198" "00446976" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336218" "00198" "00447019" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
## Screenings ## Do not remove or alter this header ##
## Count = 30
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000334650" "00333425" "1" "00000" "00006" "2021-02-25 11:52:36" "" "" "SEQ;SEQ-NG" "DNA" "" "184-gene panel"
"0000335060" "00333834" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335061" "00333835" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335329" "00334103" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000335330" "00334104" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" ""
"0000337204" "00335974" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000360189" "00358952" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360204" "00358967" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000360205" "00358968" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000374734" "00373499" "1" "00000" "00006" "2021-05-14 19:24:06" "" "" "SEQ-NG" "DNA" "" "316-gene panel"
"0000377973" "00376767" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000383760" "00382546" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000387404" "00386175" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387803" "00386575" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387811" "00386583" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000387841" "00386613" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" ""
"0000388617" "00387391" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000390363" "00389120" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000390798" "00389555" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper"
"0000390868" "00389625" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing"
"0000390869" "00389626" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET7 targeted sequencing panel - see paper"
"0000391045" "00389802" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET2 targeted sequencing panel - see paper"
"0000391124" "00389881" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper"
"0000391225" "00389982" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET9 targeted sequencing panel - see paper"
"0000396837" "00395599" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "clinical exome sequencing"
"0000397898" "00396655" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000410247" "00408982" "1" "00000" "03840" "2022-04-29 17:32:37" "" "" "arraySNP;SEQ-NG;SEQ" "DNA" "blood" "targeted gene analysis or a next-generation sequencing-based gene panel"
"0000448548" "00446971" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448553" "00446976" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448596" "00447019" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 21
"{{screeningid}}" "{{geneid}}"
"0000335060" "FLVCR1"
"0000335061" "FLVCR1"
"0000335329" "FLVCR1"
"0000335330" "FLVCR1"
"0000337204" "FLVCR1"
"0000374734" "FLVCR1"
"0000383760" "FLVCR1"
"0000387404" "USH2A"
"0000387803" "FLVCR1"
"0000387811" "FLVCR1"
"0000387841" "FLVCR1"
"0000390363" "FLVCR1"
"0000390798" "FLVCR1"
"0000390868" "FLVCR1"
"0000390869" "FLVCR1"
"0000391045" "FLVCR1"
"0000391124" "FLVCR1"
"0000391225" "FLVCR1"
"0000396837" "FLVCR1"
"0000397898" "USH2A"
"0000410247" "FLVCR1"
## 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 = 114
"{{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}}"
"0000254531" "0" "30" "1" "213037208" "213037208" "subst" "0" "01943" "FLVCR1_000010" "g.213037208A>G" "" "" "" "FLVCR1(NM_014053.3):c.880A>G (p.I294V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212863866A>G" "" "likely benign" ""
"0000276855" "0" "50" "1" "213031780" "213031780" "subst" "0.000797515" "02330" "FLVCR1_000001" "g.213031780C>G" "" "" "" "FLVCR1(NM_014053.4):c.-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212858438C>G" "" "VUS" ""
"0000276856" "0" "70" "1" "213056785" "213056785" "subst" "0.000228026" "02330" "FLVCR1_000013" "g.213056785G>A" "" "" "" "FLVCR1(NM_014053.3):c.1092+5G>A, FLVCR1(NM_014053.4):c.1092+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000276857" "0" "10" "1" "213061308" "213061308" "subst" "0.0276863" "02330" "FLVCR1_000014" "g.213061308T>C" "" "" "" "FLVCR1(NM_014053.3):c.1272T>C (p.Y424=), FLVCR1(NM_014053.4):c.1272T>C (p.Y424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212887966T>C" "" "benign" ""
"0000276858" "0" "10" "1" "213061362" "213061362" "subst" "0.272945" "02330" "FLVCR1_000016" "g.213061362T>A" "" "" "" "FLVCR1(NM_014053.3):c.1307+19T>A, FLVCR1(NM_014053.4):c.1307+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212888020T>A" "" "benign" ""
"0000276859" "0" "10" "1" "213031948" "213031948" "subst" "0.482809" "02330" "FLVCR1_000002" "g.213031948G>C" "" "" "" "FLVCR1(NM_014053.3):c.154G>C (p.A52P), FLVCR1(NM_014053.4):c.154G>C (p.A52P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212858606G>C" "" "benign" ""
"0000276860" "0" "10" "1" "213068404" "213068404" "subst" "0.272782" "02330" "FLVCR1_000018" "g.213068404T>C" "" "" "" "FLVCR1(NM_014053.3):c.1593+9T>C, FLVCR1(NM_014053.4):c.1593+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212895062T>C" "" "benign" ""
"0000276862" "0" "10" "1" "213068595" "213068595" "subst" "0.444843" "02330" "FLVCR1_000021" "g.213068595C>T" "" "" "" "FLVCR1(NM_014053.3):c.1631C>T (p.T544M), FLVCR1(NM_014053.4):c.1631C>T (p.T544M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212895253C>T" "" "benign" ""
"0000276863" "0" "10" "1" "213032073" "213032073" "subst" "4.25456E-6" "02330" "FLVCR1_000003" "g.213032073C>T" "" "" "" "FLVCR1(NM_014053.4):c.279C>T (p.A93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212858731C>T" "" "benign" ""
"0000276864" "0" "10" "1" "213032337" "213032337" "subst" "2.03721E-5" "02330" "FLVCR1_000007" "g.213032337C>T" "" "" "" "FLVCR1(NM_014053.4):c.543C>T (p.S181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212858995C>T" "" "benign" ""
"0000276865" "0" "50" "1" "213046088" "213046088" "subst" "0.00169424" "02330" "FLVCR1_000011" "g.213046088G>A" "" "" "" "FLVCR1(NM_014053.3):c.952G>A (p.E318K, p.(Glu318Lys)), FLVCR1(NM_014053.4):c.952G>A (p.E318K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212872746G>A" "" "VUS" ""
"0000280839" "0" "10" "1" "213061362" "213061362" "subst" "0.272945" "02325" "FLVCR1_000016" "g.213061362T>A" "" "" "" "FLVCR1(NM_014053.3):c.1307+19T>A, FLVCR1(NM_014053.4):c.1307+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212888020T>A" "" "benign" ""
"0000280840" "0" "10" "1" "213031948" "213031948" "subst" "0.482809" "02325" "FLVCR1_000002" "g.213031948G>C" "" "" "" "FLVCR1(NM_014053.3):c.154G>C (p.A52P), FLVCR1(NM_014053.4):c.154G>C (p.A52P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212858606G>C" "" "benign" ""
"0000280841" "0" "10" "1" "213068404" "213068404" "subst" "0.272782" "02325" "FLVCR1_000018" "g.213068404T>C" "" "" "" "FLVCR1(NM_014053.3):c.1593+9T>C, FLVCR1(NM_014053.4):c.1593+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212895062T>C" "" "benign" ""
"0000280843" "0" "10" "1" "213068595" "213068595" "subst" "0.444843" "02325" "FLVCR1_000021" "g.213068595C>T" "" "" "" "FLVCR1(NM_014053.3):c.1631C>T (p.T544M), FLVCR1(NM_014053.4):c.1631C>T (p.T544M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212895253C>T" "" "benign" ""
"0000287778" "0" "30" "1" "213056747" "213056747" "subst" "4.60401E-5" "01943" "FLVCR1_000012" "g.213056747G>A" "" "" "" "FLVCR1(NM_014053.3):c.1059G>A (p.T353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212883405G>A" "" "likely benign" ""
"0000287779" "0" "10" "1" "213061308" "213061308" "subst" "0.0276863" "01943" "FLVCR1_000014" "g.213061308T>C" "" "" "" "FLVCR1(NM_014053.3):c.1272T>C (p.Y424=), FLVCR1(NM_014053.4):c.1272T>C (p.Y424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212887966T>C" "" "benign" ""
"0000287780" "0" "30" "1" "213061338" "213061338" "subst" "0.000117941" "01943" "FLVCR1_000015" "g.213061338G>C" "" "" "" "FLVCR1(NM_014053.3):c.1302G>C (p.V434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212887996G>C" "" "likely benign" ""
"0000287781" "0" "10" "1" "213061362" "213061362" "subst" "0.272945" "01943" "FLVCR1_000016" "g.213061362T>A" "" "" "" "FLVCR1(NM_014053.3):c.1307+19T>A, FLVCR1(NM_014053.4):c.1307+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212888020T>A" "" "benign" ""
"0000287782" "0" "50" "1" "213061845" "213061845" "subst" "0" "01943" "FLVCR1_000017" "g.213061845G>C" "" "" "" "FLVCR1(NM_014053.3):c.1322G>C (p.G441A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212888503G>C" "" "VUS" ""
"0000287783" "0" "10" "1" "213031948" "213031948" "subst" "0.482809" "01943" "FLVCR1_000002" "g.213031948G>C" "" "" "" "FLVCR1(NM_014053.3):c.154G>C (p.A52P), FLVCR1(NM_014053.4):c.154G>C (p.A52P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212858606G>C" "" "benign" ""
"0000287784" "0" "10" "1" "213068404" "213068404" "subst" "0.272782" "01943" "FLVCR1_000018" "g.213068404T>C" "" "" "" "FLVCR1(NM_014053.3):c.1593+9T>C, FLVCR1(NM_014053.4):c.1593+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212895062T>C" "" "benign" ""
"0000287786" "0" "10" "1" "213068595" "213068595" "subst" "0.444843" "01943" "FLVCR1_000021" "g.213068595C>T" "" "" "" "FLVCR1(NM_014053.3):c.1631C>T (p.T544M), FLVCR1(NM_014053.4):c.1631C>T (p.T544M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212895253C>T" "" "benign" ""
"0000287787" "0" "50" "1" "213032096" "213032096" "subst" "0" "01943" "FLVCR1_000004" "g.213032096C>T" "" "" "" "FLVCR1(NM_014053.3):c.302C>T (p.T101M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212858754C>T" "" "VUS" ""
"0000287788" "0" "30" "1" "213032103" "213032103" "subst" "0" "01943" "FLVCR1_000005" "g.213032103C>G" "" "" "" "FLVCR1(NM_014053.3):c.309C>G (p.L103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212858761C>G" "" "likely benign" ""
"0000287789" "0" "50" "1" "213032389" "213032389" "subst" "0.000179646" "01943" "FLVCR1_000008" "g.213032389C>T" "" "" "" "FLVCR1(NM_014053.3):c.595C>T (p.L199F), FLVCR1(NM_014053.4):c.595C>T (p.L199F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212859047C>T" "" "VUS" ""
"0000287790" "0" "30" "1" "213032541" "213032541" "subst" "0.000426625" "01943" "FLVCR1_000009" "g.213032541T>C" "" "" "" "FLVCR1(NM_014053.3):c.738+9T>C, FLVCR1(NM_014053.4):c.738+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212859199T>C" "" "likely benign" ""
"0000287791" "0" "30" "1" "213046088" "213046088" "subst" "0.00169424" "01943" "FLVCR1_000011" "g.213046088G>A" "" "" "" "FLVCR1(NM_014053.3):c.952G>A (p.E318K, p.(Glu318Lys)), FLVCR1(NM_014053.4):c.952G>A (p.E318K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212872746G>A" "" "likely benign" ""
"0000351016" "0" "90" "1" "213056785" "213056785" "subst" "0.000228026" "02327" "FLVCR1_000013" "g.213056785G>A" "" "" "" "FLVCR1(NM_014053.3):c.1092+5G>A, FLVCR1(NM_014053.4):c.1092+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.212883443G>A" "" "pathogenic" ""
"0000505088" "0" "10" "1" "213031948" "213031948" "subst" "0.482809" "02327" "FLVCR1_000002" "g.213031948G>C" "" "" "" "FLVCR1(NM_014053.3):c.154G>C (p.A52P), FLVCR1(NM_014053.4):c.154G>C (p.A52P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212858606G>C" "" "benign" ""
"0000505089" "0" "10" "1" "213032140" "213032140" "subst" "8.13729E-6" "02330" "FLVCR1_000024" "g.213032140C>T" "" "" "" "FLVCR1(NM_014053.4):c.346C>T (p.L116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212858798C>T" "" "benign" ""
"0000505090" "0" "50" "1" "213032169" "213032169" "subst" "0" "02330" "FLVCR1_000025" "g.213032169G>C" "" "" "" "FLVCR1(NM_014053.4):c.375G>C (p.W125C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212858827G>C" "" "VUS" ""
"0000505091" "0" "50" "1" "213032389" "213032389" "subst" "0.000179646" "02330" "FLVCR1_000008" "g.213032389C>T" "" "" "" "FLVCR1(NM_014053.3):c.595C>T (p.L199F), FLVCR1(NM_014053.4):c.595C>T (p.L199F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212859047C>T" "" "VUS" ""
"0000505092" "0" "30" "1" "213032541" "213032541" "subst" "0.000426625" "02330" "FLVCR1_000009" "g.213032541T>C" "" "" "" "FLVCR1(NM_014053.3):c.738+9T>C, FLVCR1(NM_014053.4):c.738+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212859199T>C" "" "likely benign" ""
"0000505093" "0" "10" "1" "213037096" "213037096" "subst" "4.46701E-5" "02330" "FLVCR1_000026" "g.213037096A>G" "" "" "" "FLVCR1(NM_014053.4):c.768A>G (p.P256=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212863754A>G" "" "benign" ""
"0000505094" "0" "30" "1" "213046073" "213046073" "subst" "0.0024946" "01943" "FLVCR1_000027" "g.213046073G>A" "" "" "" "FLVCR1(NM_014053.3):c.937G>A (p.D313N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212872731G>A" "" "likely benign" ""
"0000505095" "0" "70" "1" "213046127" "213046128" "dup" "0" "02330" "FLVCR1_000028" "g.213046127_213046128dup" "" "" "" "FLVCR1(NM_014053.4):c.991_992dupAA (p.N331Kfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212872785_212872786dup" "" "likely pathogenic" ""
"0000505096" "0" "50" "1" "213058700" "213058700" "subst" "0.000296449" "02330" "FLVCR1_000029" "g.213058700T>G" "" "" "" "FLVCR1(NM_014053.3):c.1158T>G (p.I386M), FLVCR1(NM_014053.4):c.1158T>G (p.I386M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212885358T>G" "" "VUS" ""
"0000505097" "0" "30" "1" "213058733" "213058733" "subst" "4.4673E-5" "02330" "FLVCR1_000030" "g.213058733A>C" "" "" "" "FLVCR1(NM_014053.4):c.1191A>C (p.T397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212885391A>C" "" "likely benign" ""
"0000505098" "0" "10" "1" "213061362" "213061362" "subst" "0.272945" "02327" "FLVCR1_000016" "g.213061362T>A" "" "" "" "FLVCR1(NM_014053.3):c.1307+19T>A, FLVCR1(NM_014053.4):c.1307+19T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212888020T>A" "" "benign" ""
"0000505099" "0" "50" "1" "213061850" "213061850" "subst" "0" "02330" "FLVCR1_000031" "g.213061850C>T" "" "" "" "FLVCR1(NM_014053.4):c.1327C>T (p.L443F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212888508C>T" "" "VUS" ""
"0000505100" "0" "10" "1" "213068404" "213068404" "subst" "0.272782" "02327" "FLVCR1_000018" "g.213068404T>C" "" "" "" "FLVCR1(NM_014053.3):c.1593+9T>C, FLVCR1(NM_014053.4):c.1593+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212895062T>C" "" "benign" ""
"0000505101" "0" "10" "1" "213068545" "213068548" "dup" "0" "02330" "FLVCR1_000032" "g.213068545_213068548dup" "" "" "" "FLVCR1(NM_014053.3):c.1594-14_1594-11dupGATT, FLVCR1(NM_014053.4):c.1594-13_1594-10dupATTG, FLVCR1(NM_014053.4):c.1594-14_1594-11dupGATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212895203_212895206dup" "" "benign" ""
"0000505102" "0" "10" "1" "213068545" "213068548" "dup" "0" "01943" "FLVCR1_000032" "g.213068545_213068548dup" "" "" "" "FLVCR1(NM_014053.3):c.1594-14_1594-11dupGATT, FLVCR1(NM_014053.4):c.1594-13_1594-10dupATTG, FLVCR1(NM_014053.4):c.1594-14_1594-11dupGATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212895203_212895206dup" "" "benign" ""
"0000505103" "0" "10" "1" "213068545" "213068548" "dup" "0" "02325" "FLVCR1_000032" "g.213068545_213068548dup" "" "" "" "FLVCR1(NM_014053.3):c.1594-14_1594-11dupGATT, FLVCR1(NM_014053.4):c.1594-13_1594-10dupATTG, FLVCR1(NM_014053.4):c.1594-14_1594-11dupGATT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212895203_212895206dup" "" "benign" ""
"0000505104" "0" "10" "1" "213068595" "213068595" "subst" "0.444843" "02327" "FLVCR1_000021" "g.213068595C>T" "" "" "" "FLVCR1(NM_014053.3):c.1631C>T (p.T544M), FLVCR1(NM_014053.4):c.1631C>T (p.T544M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212895253C>T" "" "benign" ""
"0000605131" "0" "70" "1" "213056785" "213056785" "subst" "0.000228026" "02325" "FLVCR1_000013" "g.213056785G>A" "" "" "" "FLVCR1(NM_014053.3):c.1092+5G>A, FLVCR1(NM_014053.4):c.1092+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000605132" "0" "70" "1" "213062551" "213062551" "subst" "0" "01943" "FLVCR1_000036" "g.213062551G>A" "" "" "" "FLVCR1(NM_014053.3):c.1477G>A (p.G493R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212889209G>A" "" "likely pathogenic" ""
"0000605133" "0" "50" "1" "213062590" "213062590" "subst" "0" "01943" "FLVCR1_000037" "g.213062590A>G" "" "" "" "FLVCR1(NM_014053.3):c.1516A>G (p.I506V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212889248A>G" "" "VUS" ""
"0000620490" "0" "30" "1" "213031957" "213031957" "subst" "0" "01943" "FLVCR1_000033" "g.213031957G>T" "" "" "" "FLVCR1(NM_014053.3):c.163G>T (p.D55Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212858615G>T" "" "likely benign" ""
"0000620491" "0" "30" "1" "213031958" "213031958" "subst" "0" "01943" "FLVCR1_000034" "g.213031958A>T" "" "" "" "FLVCR1(NM_014053.3):c.164A>T (p.D55V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212858616A>T" "" "likely benign" ""
"0000620492" "0" "50" "1" "213032348" "213032348" "subst" "2.44537E-5" "01943" "FLVCR1_000035" "g.213032348G>C" "" "" "" "FLVCR1(NM_014053.3):c.554G>C (p.C185S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212859006G>C" "" "VUS" ""
"0000653876" "0" "30" "1" "213062611" "213062611" "subst" "9.36925E-5" "02330" "FLVCR1_000038" "g.213062611C>T" "" "" "" "FLVCR1(NM_014053.4):c.1525+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.212889269C>T" "" "likely benign" ""
"0000675625" "0" "30" "1" "213046066" "213046066" "subst" "0" "01943" "FLVCR1_000039" "g.213046066T>C" "" "" "" "FLVCR1(NM_014053.3):c.930T>C (p.A310=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000675626" "0" "50" "1" "213056785" "213056785" "subst" "0.000228026" "01943" "FLVCR1_000013" "g.213056785G>A" "" "" "" "FLVCR1(NM_014053.3):c.1092+5G>A, FLVCR1(NM_014053.4):c.1092+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000675627" "0" "50" "1" "213058700" "213058700" "subst" "0.000296449" "01943" "FLVCR1_000029" "g.213058700T>G" "" "" "" "FLVCR1(NM_014053.3):c.1158T>G (p.I386M), FLVCR1(NM_014053.4):c.1158T>G (p.I386M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000688010" "0" "50" "1" "213032387" "213032387" "subst" "0" "01943" "FLVCR1_000040" "g.213032387A>G" "" "" "" "FLVCR1(NM_014053.3):c.593A>G (p.H198R), FLVCR1(NM_014053.4):c.593A>G (p.(His198Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000732582" "0" "90" "1" "213068348" "213068348" "subst" "2.84433E-5" "00000" "FLVCR1_000045" "g.213068348C>T" "" "{PMID:Wang 2017:28838317}" "" "" "" "Germline" "" "rs538343832" "0" "" "" "g.212895006C>T" "" "pathogenic" ""
"0000733069" "1" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Stone 2017:28559085}" "" "IVS4+5G>A" "" "Germline" "" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000733070" "1" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Stone 2017:28559085}" "" "IVS4+5G>A" "" "Germline" "" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000733338" "1" "70" "1" "213037175" "213037175" "subst" "8.12334E-6" "00000" "FLVCR1_000042" "g.213037175G>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.212863833G>C" "" "likely pathogenic" ""
"0000733339" "3" "70" "1" "213032155" "213032155" "subst" "4.06659E-6" "00000" "FLVCR1_000041" "g.213032155A>G" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.212858813A>G" "" "likely pathogenic" ""
"0000733533" "2" "70" "1" "213061348" "213061348" "subst" "8.13597E-6" "00000" "FLVCR1_000044" "g.213061348G>T" "" "{PMID:Stone 2017:28559085}" "" "IVS6+5G>T" "" "Germline" "" "" "0" "" "" "g.212888006G>T" "" "likely pathogenic" ""
"0000733534" "2" "70" "1" "213056746" "213056746" "subst" "0" "00000" "FLVCR1_000043" "g.213056746C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.212883404C>T" "" "likely pathogenic" ""
"0000733718" "2" "70" "1" "213068400" "213068403" "del" "0" "00000" "FLVCR1_000046" "g.213068400_213068403del" "" "{PMID:Stone 2017:28559085}" "" "IVS9+1del4tGTAA" "" "Germline" "" "" "0" "" "" "g.212895058_212895061del" "" "likely pathogenic" ""
"0000736834" "1" "70" "1" "213037102" "213037107" "dup" "0" "00000" "FLVCR1_000047" "g.213037102_213037107dup" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs749580355" "0" "" "" "g.212863760_212863765dup" "" "likely pathogenic" ""
"0000759931" "1" "90" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.212883443G>A" "" "pathogenic (recessive)" ""
"0000759932" "3" "90" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.212883443G>A" "" "pathogenic (recessive)" ""
"0000759957" "2" "90" "1" "213032273" "213032273" "subst" "0" "00000" "FLVCR1_000048" "g.213032273T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.212858931T>C" "" "pathogenic (recessive)" ""
"0000759988" "0" "50" "1" "213032455" "213032455" "subst" "4.06752E-6" "00000" "FLVCR1_000049" "g.213032455C>T" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.212859113C>T" "" "VUS" ""
"0000785559" "1" "90" "1" "213037217" "213037217" "subst" "0" "00000" "FLVCR1_000050" "g.213037217T>C" "" "{PMID:Liu 2015:25611614}" "" "c.883+6T>C" "" "Germline" "" "" "0" "" "" "g.212863875T>C" "" "pathogenic (recessive)" ""
"0000785582" "2" "90" "1" "213058692" "213058692" "subst" "0" "00000" "FLVCR1_000051" "g.213058692G>C" "" "{PMID:Liu 2015:25611614}" "" "" "" "Germline" "" "" "0" "" "" "g.212885350G>C" "" "pathogenic (recessive)" ""
"0000790540" "0" "50" "1" "213046080" "213046080" "subst" "0.000101572" "00000" "FLVCR1_000052" "g.213046080C>G" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "" "0" "" "" "g.212872738C>G" "" "VUS" ""
"0000798007" "0" "70" "1" "213068359" "213068363" "del" "0" "00000" "FLVCR1_000053" "g.213068359_213068363del" "" "{PMID:Jespersgaar 2019:30718709}" "" "FLVCR1 c.1557_1561del, p.(Asn519Lysfs*8)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.212895017_212895021del" "" "likely pathogenic" "ACMG"
"0000799059" "0" "30" "1" "213031843" "213031843" "subst" "3.49822E-5" "01943" "FLVCR1_000054" "g.213031843C>G" "" "" "" "FLVCR1(NM_014053.3):c.49C>G (p.P17A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799060" "0" "30" "1" "213032041" "213032041" "subst" "9.96532E-6" "01943" "FLVCR1_000055" "g.213032041C>T" "" "" "" "FLVCR1(NM_014053.3):c.247C>T (p.P83S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799061" "0" "90" "1" "213037083" "213037083" "del" "0" "01943" "FLVCR1_000022" "g.213037083del" "" "" "" "FLVCR1(NM_014053.3):c.755delG (p.G252Afs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000815450" "0" "50" "1" "213032389" "213032389" "subst" "0.000179646" "00000" "FLVCR1_000008" "g.213032389C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "FLVCR1:NM_014053 c.C595T, p.L199F" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.212859047C>T" "" "VUS" "ACMG"
"0000815961" "0" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "FLVCR1 c.1092+5G>A" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000815969" "0" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "FLVCR1 c.1092+5G>A" "Located at end of transcript, heterozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000815999" "0" "70" "1" "212922345" "213341122" "del" "0" "00000" "FLVCR1_000057" "g.212922345_213341122del" "" "{PMID:Zampaglione 2020:32037395}" "" "FLVCR1 chr1:212922345_213341122del" "NSL1, TATDN3, C1orf227, FLVCR1, VASH2, ANGEL2, RPS6KC, range 36836-418777 bp in various techniques, heterozygous" "Unknown" "?" "" "0" "" "" "" "" "likely pathogenic" ""
"0000816312" "0" "70" "1" "213056746" "213056746" "subst" "0" "00000" "FLVCR1_000043" "g.213056746C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1058C>T, p.Thr353Met" "heterozygous" "Unknown" "?" "" "0" "" "" "g.212883404C>T" "" "likely pathogenic" ""
"0000816319" "3" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1092+5G>A" "Located at end of transcript, homozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000816342" "0" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1092+5G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000817315" "0" "70" "1" "212859172" "212859172" "del" "0" "00000" "FLVCR1_000056" "g.212859172del" "" "{PMID:Sun 2020:32100970}" "" "FLVCR1 c.719delC, p.Thr240ThrfsX20, heterozygous" "error in annotation: c.719delC causes p.(Ala241ProfsTer19), and not p.(Thr240ThrfsTer20)" "Unknown" "?" "" "0" "" "" "g.212859172del" "" "likely pathogenic" "ACMG"
"0000819708" "1" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.1318_1321del/p.T440Vfs*63" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000820143" "1" "70" "1" "213037083" "213037083" "del" "0" "00000" "FLVCR1_000022" "g.213037083del" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.755del/p.G252Afs*8, variant 2: c.1092+5G>A/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212863741del" "" "likely pathogenic" ""
"0000820213" "1" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.847G>C/p.A283P" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000820214" "1" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.847G>C/p.A283P" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000820390" "1" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.755del/p.G252Afs*8" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000820469" "1" "70" "1" "213031996" "213031996" "subst" "0" "00000" "FLVCR1_000058" "g.213031996C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.202C>T/p.Q68*, variant 2: c.1158T>G/p.I386M" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212858654C>T" "" "likely pathogenic" ""
"0000820570" "1" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.971C>A/p.S324*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000820704" "1" "70" "1" "213061841" "213061844" "del" "0" "00000" "FLVCR1_000060" "g.213061841_213061844del" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.1318_1321del/p.T440Vfs*63" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212888499_212888502del" "" "likely pathogenic" ""
"0000820823" "1" "70" "1" "213056785" "213056785" "subst" "0.000228026" "00000" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.755del/p.G252Afs*8, variant 2: c.1092+5G>A/p.?" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212883443G>A" "" "likely pathogenic" ""
"0000820844" "1" "70" "1" "213037175" "213037175" "subst" "8.12334E-6" "00000" "FLVCR1_000042" "g.213037175G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.847G>C/p.A283P" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212863833G>C" "" "likely pathogenic" ""
"0000820845" "1" "70" "1" "213037175" "213037175" "subst" "8.12334E-6" "00000" "FLVCR1_000042" "g.213037175G>C" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.847G>C/p.A283P" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212863833G>C" "" "likely pathogenic" ""
"0000820893" "1" "70" "1" "213037083" "213037083" "del" "0" "00000" "FLVCR1_000022" "g.213037083del" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.755del/p.G252Afs*8" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212863741del" "" "likely pathogenic" ""
"0000820929" "1" "70" "1" "213058700" "213058700" "subst" "0.000296449" "00000" "FLVCR1_000029" "g.213058700T>G" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.202C>T/p.Q68*, variant 2: c.1158T>G/p.I386M" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212885358T>G" "" "likely pathogenic" ""
"0000820981" "1" "70" "1" "213046107" "213046107" "subst" "0" "00000" "FLVCR1_000059" "g.213046107C>A" "" "{PMID:Weisschuh 2020:32531858}" "" "FLVCR1, variant 1: c.1092+5G>A/p.?, variant 2: c.971C>A/p.S324*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.212872765C>A" "" "likely pathogenic" ""
"0000828529" "3" "90" "1" "213032515" "213032515" "subst" "0" "00000" "FLVCR1_000061" "g.213032515G>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "FLVCR1, c.721G>A, p.Ala241Thr, homozygous" "" "Unknown" "?" "" "0" "" "" "g.212859173G>A" "" "pathogenic" "ACMG"
"0000829978" "0" "50" "1" "213032527" "213032527" "subst" "0" "00000" "FLVCR1_000062" "g.213032527A>G" "" "{PMID:Numa-2020:33247286}" "" "c.733A>G:p.N245D" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000829979" "0" "50" "1" "213032527" "213032527" "subst" "0" "00000" "FLVCR1_000062" "g.213032527A>G" "" "{PMID:Numa-2020:33247286}" "" "c.733A>G:p.N245D" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000847523" "3" "70" "1" "213032155" "213032155" "subst" "4.06659E-6" "00000" "FLVCR1_000041" "g.213032155A>G" "population-specific allele frequency: 1.23% (5/406)" "{PMID:Puffenberger 2012:22279524}" "" "FLVCR1 c.361A>G, p.Asn121Asp" "homozygous" "Germline" "yes" "" "0" "" "" "g.212858813A>G" "" "likely pathogenic" ""
"0000848510" "0" "50" "1" "213061276" "213061276" "subst" "0" "02330" "FLVCR1_000063" "g.213061276G>A" "" "" "" "FLVCR1(NM_014053.4):c.1240G>A (p.V414I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857259" "0" "30" "1" "213046088" "213046088" "subst" "0.00169424" "01804" "FLVCR1_000011" "g.213046088G>A" "" "" "" "FLVCR1(NM_014053.3):c.952G>A (p.E318K, p.(Glu318Lys)), FLVCR1(NM_014053.4):c.952G>A (p.E318K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000958034" "0" "90" "1" "213056785" "213056785" "subst" "0.000228026" "00006" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.212883443G>A" "374768" "pathogenic (recessive)" "ACMG"
"0000958039" "0" "90" "1" "213056785" "213056785" "subst" "0.000228026" "00006" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.212883443G>A" "374768" "pathogenic (recessive)" "ACMG"
"0000958082" "0" "90" "1" "213056785" "213056785" "subst" "0.000228026" "00006" "FLVCR1_000013" "g.213056785G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.212883443G>A" "" "pathogenic (recessive)" "ACMG"
"0000958431" "0" "90" "1" "213037083" "213037083" "del" "0" "00006" "FLVCR1_000022" "g.213037083del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.212863741del" "" "pathogenic (recessive)" "ACMG"
"0000958437" "0" "70" "1" "213037175" "213037175" "subst" "8.12334E-6" "00006" "FLVCR1_000042" "g.213037175G>C" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.212863833G>C" "450589" "likely pathogenic (recessive)" "ACMG"
"0000958467" "0" "90" "1" "213037070" "213037070" "subst" "1.21827E-5" "00006" "FLVCR1_000064" "g.213037070G>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5" "Germline" "" "" "0" "" "" "g.212863728G>T" "" "pathogenic (recessive)" "ACMG"
"0001031640" "0" "50" "1" "213032387" "213032387" "subst" "0" "01804" "FLVCR1_000040" "g.213032387A>G" "" "" "" "FLVCR1(NM_014053.3):c.593A>G (p.H198R), FLVCR1(NM_014053.4):c.593A>G (p.(His198Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031641" "0" "50" "1" "213061904" "213061904" "subst" "3.65509E-5" "01804" "FLVCR1_000065" "g.213061904A>T" "" "" "" "FLVCR1(NM_014053.4):c.1381A>T (p.(Thr461Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001070729" "0" "50" "1" "213032389" "213032389" "subst" "0.000179646" "03779" "FLVCR1_000008" "g.213032389C>T" "" "" "" "" "" "Unknown" "" "rs41296694" "0" "" "" "" "" "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 FLVCR1
## Count = 114
"{{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}}"
"0000254531" "00008013" "30" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Ile294Val)" ""
"0000276855" "00008013" "50" "-15" "0" "-15" "0" "c.-15C>G" "r.(?)" "p.(=)" ""
"0000276856" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.?" ""
"0000276857" "00008013" "10" "1272" "0" "1272" "0" "c.1272T>C" "r.(?)" "p.(Tyr424=)" ""
"0000276858" "00008013" "10" "1307" "19" "1307" "19" "c.1307+19T>A" "r.(=)" "p.(=)" ""
"0000276859" "00008013" "10" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Ala52Pro)" ""
"0000276860" "00008013" "10" "1593" "9" "1593" "9" "c.1593+9T>C" "r.(=)" "p.(=)" ""
"0000276862" "00008013" "10" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Thr544Met)" ""
"0000276863" "00008013" "10" "279" "0" "279" "0" "c.279C>T" "r.(?)" "p.(Ala93=)" ""
"0000276864" "00008013" "10" "543" "0" "543" "0" "c.543C>T" "r.(?)" "p.(Ser181=)" ""
"0000276865" "00008013" "50" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Glu318Lys)" ""
"0000280839" "00008013" "10" "1307" "19" "1307" "19" "c.1307+19T>A" "r.(=)" "p.(=)" ""
"0000280840" "00008013" "10" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Ala52Pro)" ""
"0000280841" "00008013" "10" "1593" "9" "1593" "9" "c.1593+9T>C" "r.(=)" "p.(=)" ""
"0000280843" "00008013" "10" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Thr544Met)" ""
"0000287778" "00008013" "30" "1059" "0" "1059" "0" "c.1059G>A" "r.(?)" "p.(Thr353=)" ""
"0000287779" "00008013" "10" "1272" "0" "1272" "0" "c.1272T>C" "r.(?)" "p.(Tyr424=)" ""
"0000287780" "00008013" "30" "1302" "0" "1302" "0" "c.1302G>C" "r.(?)" "p.(Val434=)" ""
"0000287781" "00008013" "10" "1307" "19" "1307" "19" "c.1307+19T>A" "r.(=)" "p.(=)" ""
"0000287782" "00008013" "50" "1322" "0" "1322" "0" "c.1322G>C" "r.(?)" "p.(Gly441Ala)" ""
"0000287783" "00008013" "10" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Ala52Pro)" ""
"0000287784" "00008013" "10" "1593" "9" "1593" "9" "c.1593+9T>C" "r.(=)" "p.(=)" ""
"0000287786" "00008013" "10" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Thr544Met)" ""
"0000287787" "00008013" "50" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Thr101Met)" ""
"0000287788" "00008013" "30" "309" "0" "309" "0" "c.309C>G" "r.(?)" "p.(Leu103=)" ""
"0000287789" "00008013" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Leu199Phe)" ""
"0000287790" "00008013" "30" "738" "9" "738" "9" "c.738+9T>C" "r.(=)" "p.(=)" ""
"0000287791" "00008013" "30" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Glu318Lys)" ""
"0000351016" "00008013" "90" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.?" ""
"0000505088" "00008013" "10" "154" "0" "154" "0" "c.154G>C" "r.(?)" "p.(Ala52Pro)" ""
"0000505089" "00008013" "10" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Leu116=)" ""
"0000505090" "00008013" "50" "375" "0" "375" "0" "c.375G>C" "r.(?)" "p.(Trp125Cys)" ""
"0000505091" "00008013" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Leu199Phe)" ""
"0000505092" "00008013" "30" "738" "9" "738" "9" "c.738+9T>C" "r.(=)" "p.(=)" ""
"0000505093" "00008013" "10" "768" "0" "768" "0" "c.768A>G" "r.(?)" "p.(Pro256=)" ""
"0000505094" "00008013" "30" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Asp313Asn)" ""
"0000505095" "00008013" "70" "991" "0" "992" "0" "c.991_992dup" "r.(?)" "p.(Asn331LysfsTer9)" ""
"0000505096" "00008013" "50" "1158" "0" "1158" "0" "c.1158T>G" "r.(?)" "p.(Ile386Met)" ""
"0000505097" "00008013" "30" "1191" "0" "1191" "0" "c.1191A>C" "r.(?)" "p.(Thr397=)" ""
"0000505098" "00008013" "10" "1307" "19" "1307" "19" "c.1307+19T>A" "r.(=)" "p.(=)" ""
"0000505099" "00008013" "50" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Leu443Phe)" ""
"0000505100" "00008013" "10" "1593" "9" "1593" "9" "c.1593+9T>C" "r.(=)" "p.(=)" ""
"0000505101" "00008013" "10" "1594" "-13" "1594" "-10" "c.1594-13_1594-10dup" "r.(=)" "p.(=)" ""
"0000505102" "00008013" "10" "1594" "-13" "1594" "-10" "c.1594-13_1594-10dup" "r.(=)" "p.(=)" ""
"0000505103" "00008013" "10" "1594" "-13" "1594" "-10" "c.1594-13_1594-10dup" "r.(=)" "p.(=)" ""
"0000505104" "00008013" "10" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Thr544Met)" ""
"0000605131" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.?" ""
"0000605132" "00008013" "70" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Gly493Arg)" ""
"0000605133" "00008013" "50" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Ile506Val)" ""
"0000620490" "00008013" "30" "163" "0" "163" "0" "c.163G>T" "r.(?)" "p.(Asp55Tyr)" ""
"0000620491" "00008013" "30" "164" "0" "164" "0" "c.164A>T" "r.(?)" "p.(Asp55Val)" ""
"0000620492" "00008013" "50" "554" "0" "554" "0" "c.554G>C" "r.(?)" "p.(Cys185Ser)" ""
"0000653876" "00008013" "30" "1525" "12" "1525" "12" "c.1525+12C>T" "r.(=)" "p.(=)" ""
"0000675625" "00008013" "30" "930" "0" "930" "0" "c.930T>C" "r.(?)" "p.(Ala310=)" ""
"0000675626" "00008013" "50" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.?" ""
"0000675627" "00008013" "50" "1158" "0" "1158" "0" "c.1158T>G" "r.(?)" "p.(Ile386Met)" ""
"0000688010" "00008013" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(His198Arg)" ""
"0000732582" "00008013" "90" "1546" "0" "1546" "0" "c.1546C>T" "r.(?)" "p.(Arg516*)" ""
"0000733069" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl" "p.?" ""
"0000733070" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl" "p.?" ""
"0000733338" "00008013" "70" "847" "0" "847" "0" "c.847G>C" "r.(?)" "p.(Ala283Pro)" ""
"0000733339" "00008013" "70" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Asn121Asp)" ""
"0000733533" "00008013" "70" "1307" "5" "1307" "5" "c.1307+5G>T" "r.spl" "p.?" ""
"0000733534" "00008013" "70" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Thr353Met)" ""
"0000733718" "00008013" "70" "1593" "5" "1593" "8" "c.1593+5_1593+8del" "r.spl" "p.?" ""
"0000736834" "00008013" "70" "774" "0" "779" "0" "c.774_779dup" "r.(?)" "p.(Leu259_Val260dup)" ""
"0000759931" "00008013" "90" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl" "p.?" ""
"0000759932" "00008013" "90" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl" "p.?" ""
"0000759957" "00008013" "90" "479" "0" "479" "0" "c.479T>C" "r.(?)" "p.(Leu160Pro)" ""
"0000759988" "00008013" "50" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Pro221Ser)" ""
"0000785559" "00008013" "90" "883" "6" "883" "6" "c.883+6T>C" "r.spl?" "p.?" ""
"0000785582" "00008013" "90" "1150" "0" "1150" "0" "c.1150G>C" "r.(?)" "p.(Gly384Arg)" ""
"0000790540" "00008013" "50" "944" "0" "944" "0" "c.944C>G" "r.(?)" "p.(Pro315Arg)" ""
"0000798007" "00008013" "70" "1557" "0" "1561" "0" "c.1557_1561del" "r.(?)" "p.(Asn519Lysfs*8)" ""
"0000799059" "00008013" "30" "49" "0" "49" "0" "c.49C>G" "r.(?)" "p.(Pro17Ala)" ""
"0000799060" "00008013" "30" "247" "0" "247" "0" "c.247C>T" "r.(?)" "p.(Pro83Ser)" ""
"0000799061" "00008013" "90" "755" "0" "755" "0" "c.755del" "r.(?)" "p.(Gly252AlafsTer8)" ""
"0000815450" "00008013" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Leu199Phe)" ""
"0000815961" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000815969" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000815999" "00008013" "70" "0" "0" "0" "0" "c.0?" "r.0?" "p.(?)" ""
"0000816312" "00008013" "70" "1058" "0" "1058" "0" "c.1058C>T" "r.(?)" "p.(Thr353Met)" ""
"0000816319" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000816342" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000817315" "00008013" "70" "719" "0" "719" "0" "c.719delC" "r.(?)" "p.(Ala241Profs*19)" "1"
"0000819708" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000820143" "00008013" "70" "755" "0" "755" "0" "c.755del" "r.(?)" "p.(Gly252Alafs*8)" ""
"0000820213" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000820214" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000820390" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000820469" "00008013" "70" "202" "0" "202" "0" "c.202C>T" "r.(?)" "p.(Gln68*)" ""
"0000820570" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000820704" "00008013" "70" "1318" "0" "1321" "0" "c.1318_1321del" "r.(?)" "p.(Thr440Valfs*63)" ""
"0000820823" "00008013" "70" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.(?)" ""
"0000820844" "00008013" "70" "847" "0" "847" "0" "c.847G>C" "r.(?)" "p.(Ala283Pro)" ""
"0000820845" "00008013" "70" "847" "0" "847" "0" "c.847G>C" "r.(?)" "p.(Ala283Pro)" ""
"0000820893" "00008013" "70" "755" "0" "755" "0" "c.755del" "r.(?)" "p.(Gly252Alafs*8)" ""
"0000820929" "00008013" "70" "1158" "0" "1158" "0" "c.1158T>G" "r.(?)" "p.(Ile386Met)" ""
"0000820981" "00008013" "70" "971" "0" "971" "0" "c.971C>A" "r.(?)" "p.(Ser324*)" ""
"0000828529" "00008013" "90" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Ala241Thr)" ""
"0000829978" "00008013" "50" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Asn245Asp)" "1"
"0000829979" "00008013" "50" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Asn245Asp)" "1"
"0000847523" "00008013" "70" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Asn121Asp)" ""
"0000848510" "00008013" "50" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Val414Ile)" ""
"0000857259" "00008013" "30" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Glu318Lys)" ""
"0000958034" "00008013" "90" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.?" ""
"0000958039" "00008013" "90" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.?" ""
"0000958082" "00008013" "90" "1092" "5" "1092" "5" "c.1092+5G>A" "r.spl?" "p.?" ""
"0000958431" "00008013" "90" "755" "0" "755" "0" "c.755del" "r.(?)" "p.(Gly252AlafsTer8)" ""
"0000958437" "00008013" "70" "847" "0" "847" "0" "c.847G>C" "r.(?)" "p.(Ala283Pro)" ""
"0000958467" "00008013" "90" "742" "0" "742" "0" "c.742G>T" "r.(?)" "p.(Gly248Ter)" ""
"0001031640" "00008013" "50" "593" "0" "593" "0" "c.593A>G" "r.(?)" "p.(His198Arg)" ""
"0001031641" "00008013" "50" "1381" "0" "1381" "0" "c.1381A>T" "r.(?)" "p.(Thr461Ser)" ""
"0001070729" "00008013" "50" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Leu199Phe)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 49
"{{screeningid}}" "{{variantid}}"
"0000334650" "0000732582"
"0000335060" "0000733069"
"0000335060" "0000733533"
"0000335061" "0000733070"
"0000335061" "0000733534"
"0000335329" "0000733338"
"0000335329" "0000733718"
"0000335330" "0000733339"
"0000337204" "0000736834"
"0000360189" "0000759988"
"0000360204" "0000759931"
"0000360204" "0000759957"
"0000360205" "0000759932"
"0000374734" "0000785559"
"0000374734" "0000785582"
"0000377973" "0000790540"
"0000383760" "0000798007"
"0000387404" "0000815450"
"0000387803" "0000815961"
"0000387803" "0000816312"
"0000387811" "0000815969"
"0000387811" "0000816319"
"0000387841" "0000815999"
"0000387841" "0000816342"
"0000388617" "0000817315"
"0000390363" "0000819708"
"0000390363" "0000820704"
"0000390798" "0000820143"
"0000390798" "0000820823"
"0000390868" "0000820213"
"0000390868" "0000820844"
"0000390869" "0000820214"
"0000390869" "0000820845"
"0000391045" "0000820390"
"0000391045" "0000820893"
"0000391124" "0000820469"
"0000391124" "0000820929"
"0000391225" "0000820570"
"0000391225" "0000820981"
"0000396837" "0000828529"
"0000397898" "0000829978"
"0000397898" "0000829979"
"0000410247" "0000847523"
"0000448548" "0000958034"
"0000448548" "0000958431"
"0000448553" "0000958039"
"0000448553" "0000958437"
"0000448596" "0000958082"
"0000448596" "0000958467"