### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GUCA1B)
# 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}}"
"GUCA1B" "guanylate cyclase activator 1B (retina)" "6" "p21.1" "unknown" "NG_016216.1" "UD_132118521952" "" "http://www.LOVD.nl/GUCA1B" "" "1" "4679" "2979" "602275" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases." "" "g" "http://databases.lovd.nl/shared/refseq/GUCA1B_NM_002098.5_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-01-06 00:00:00" "00006" "2015-02-28 09:11:14" "00000" "2025-05-05 21:14:00"
## 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}}"
"00009060" "GUCA1B" "guanylate cyclase activator 1B (retina)" "001" "NM_002098.5" "" "NP_002089.4" "" "" "" "-136" "2134" "603" "42162694" "42151022" "" "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"
"03451" "RP48" "retinitis pigmentosa, type 48 (RP48)" "" "613827" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-04-09 15:05:56"
"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}}"
"GUCA1B" "03451"
## Individuals ## Do not remove or alter this header ##
## Count = 32
"{{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}}"
"00033094" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033108" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033109" "" "" "" "1" "" "00229" "{PMID:Neveling 2012:22334370}" "" "F" "no" "" "" "0" "" "" "" ""
"00033112" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033124" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" ""
"00033127" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" ""
"00033145" "" "" "" "1" "" "00229" "" "" "M" "" "" "" "0" "" "" "" ""
"00033154" "" "" "" "1" "" "00229" "" "" "F" "" "" "" "0" "" "" "" ""
"00232683" "" "" "" "23" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232684" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232685" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232686" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00232687" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00233687" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" ""
"00299640" "" "" "" "1" "" "00006" "{PMID:Arno 2017:28132693}" "3-generation family, 1 affeted, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamGC18203Pat1"
"00328416" "" "" "" "1" "" "00000" "{PMID:Zhou 2018:29453956}" "" "" "" "China" "" "0" "" "" "" "680602"
"00362006" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat9AB"
"00372645" "" "" "" "1" "" "00000" "{PMID:Xu 2014:24938718}" "patient" "F" "" "China" "" "0" "" "" "" "RP289"
"00373473" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP1728"
"00373480" "" "" "" "2" "" "00000" "{PMID:Fernandez-San Jose 2015:25698705}" "family, 2 affected" "" "" "Spain" "" "0" "" "" "" "RP0992"
"00376755" "" "" "" "1" "" "00000" "{PMID:Wang 2014:25097241}" "" "M" "" "United States" "" "0" "" "" "" "15"
"00377374" "" "" "" "1" "" "00000" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Spain" "" "0" "" "" "" "?"
"00379426" "" "" "" "1" "" "00000" "{PMID:Zhou 2011:29453956}" "" "" "" "China" "" "0" "" "" "" ""
"00382799" "" "" "" "1" "" "00000" "{PMID:Song-2011:22025579}" "" "F" "" "" "" "0" "" "" "" ""
"00383796" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184091_B"
"00386190" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-144, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-304"
"00386975" "" "" "" "1" "" "00000" "{PMID:Jauregui 2020:32098976}" "" "M" "" "(United States)" "" "0" "" "" "white" "1"
"00395885" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F229"
"00420535" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F229"
"00446964" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "ARRP-110"
"00447382" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "STGD-436"
"00447637" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "UD-118"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 32
"{{individualid}}" "{{diseaseid}}"
"00033094" "04214"
"00033108" "04214"
"00033109" "04214"
"00033112" "04214"
"00033124" "04214"
"00033127" "04214"
"00033145" "04214"
"00033154" "04214"
"00232683" "04214"
"00232684" "04214"
"00232685" "04214"
"00232686" "04214"
"00232687" "04214"
"00233687" "04214"
"00299640" "04214"
"00328416" "04214"
"00362006" "04214"
"00372645" "04214"
"00373473" "04214"
"00373480" "04214"
"00376755" "04214"
"00377374" "04214"
"00379426" "04214"
"00382799" "04214"
"00383796" "04214"
"00386190" "04214"
"00386975" "04214"
"00395885" "04214"
"00420535" "04214"
"00446964" "00198"
"00447382" "00198"
"00447637" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03451, 04214
## Count = 26
"{{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}}"
"0000026523" "04214" "00033094" "00229" "Unknown" "22y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026537" "04214" "00033108" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026538" "04214" "00033109" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026541" "04214" "00033112" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026553" "04214" "00033124" "00229" "Unknown" "10y" "dystrophy, macular, juvenile" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026556" "04214" "00033127" "00229" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026574" "04214" "00033145" "00229" "Unknown" "11y" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000026583" "04214" "00033154" "00229" "Unknown" "34y" "epilepsy" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000226950" "04214" "00299640" "00006" "Familial, autosomal recessive" "37y" "see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110" "20y" "" "" "" "" "" "" "" "RP78" "retinitis pigmentosa" ""
"0000246642" "04214" "00328416" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia" ""
"0000257399" "04214" "00362006" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" ""
"0000267924" "04214" "00372645" "00000" "Isolated (sporadic)" "28y" "see paper; ..." "13y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268749" "04214" "00373473" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000268756" "04214" "00373480" "00000" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000271966" "04214" "00376755" "00000" "Familial, autosomal recessive" "24y" "" "" "" "" "" "" "" "" "" "" "Decreased peripheral vision, night blindness" ""
"0000272524" "04214" "00377374" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "RP48" "retinitis pigmentosa" ""
"0000273299" "04214" "00379426" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "late-onset high myopia (loHM)" ""
"0000276655" "04214" "00382799" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome" ""
"0000277581" "04214" "00383796" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000279993" "04214" "00386190" "00000" "Familial, autosomal dominant" "49y" "" "" "49y" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000280753" "04214" "00386975" "00000" "Familial, autosomal dominant" "31y" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa, autosomal dominant" "" ""
"0000289047" "04214" "00395885" "00000" "Unknown" "62y4m" "" "60y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000311783" "04214" "00420535" "00000" "Familial, autosomal dominant" "62y4m" "" "60y" "" "" "" "" "" "" "" "macular dystrophy" "" ""
"0000336163" "00198" "00446964" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" ""
"0000336581" "00198" "00447382" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
"0000336836" "00198" "00447637" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "unclear diagnosis" ""
## Screenings ## Do not remove or alter this header ##
## Count = 32
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000033162" "00033094" "1" "00229" "00229" "2012-02-04 16:07:37" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033176" "00033108" "1" "00229" "00229" "2012-02-04 16:10:11" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033177" "00033109" "1" "00229" "00229" "2012-02-04 14:49:23" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033180" "00033112" "1" "00229" "00229" "2012-02-04 15:20:01" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033192" "00033124" "1" "00229" "00229" "2012-02-04 14:23:49" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033195" "00033127" "1" "00229" "00229" "2012-02-13 08:19:26" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033213" "00033145" "1" "00229" "00229" "2012-02-13 09:10:17" "00006" "2012-05-18 13:59:34" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000033222" "00033154" "1" "00229" "00229" "2012-02-13 09:10:17" "00006" "2012-05-18 13:59:33" "SEQ;SEQ-NG-S" "DNA" "" ""
"0000233782" "00232683" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233783" "00232684" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233784" "00232685" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233785" "00232686" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000233786" "00232687" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000234786" "00233687" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" ""
"0000300750" "00299640" "1" "00006" "00006" "2020-04-18 08:53:03" "00006" "2020-04-18 08:55:30" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000329630" "00328416" "1" "00000" "00006" "2021-01-27 14:27:38" "" "" "SEQ-NG" "DNA" "" "WES"
"0000363234" "00362006" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000373877" "00372645" "1" "00000" "00006" "2021-05-10 13:08:15" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000374708" "00373473" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel"
"0000374715" "00373480" "1" "00000" "00006" "2021-05-14 16:56:19" "" "" "SEQ-NG" "DNA" "" "73-gene panel"
"0000377961" "00376755" "1" "00000" "00006" "2021-06-25 14:31:53" "" "" "SEQ-NG" "DNA" "" "66-gene panel"
"0000378577" "00377374" "1" "00000" "03840" "2021-07-22 14:34:00" "" "" "?" "DNA" "" "various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES"
"0000380626" "00379426" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ" "DNA" "blood" "WES"
"0000384015" "00382799" "1" "00000" "00008" "2021-09-13 01:01:20" "" "" "arraySEQ;PCR" "DNA" "blood" ""
"0000385021" "00383796" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" ""
"0000387419" "00386190" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000388201" "00386975" "1" "00000" "03840" "2021-10-28 13:59:26" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing"
"0000397124" "00395885" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes"
"0000421844" "00420535" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes"
"0000448541" "00446964" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000448959" "00447382" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000449214" "00447637" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 39
"{{screeningid}}" "{{geneid}}"
"0000033162" "GUCA1B"
"0000033162" "RP2"
"0000033176" "GUCA1B"
"0000033176" "RPE65"
"0000033177" "CACNA1F"
"0000033177" "EYS"
"0000033177" "GUCA1B"
"0000033177" "PDE6B"
"0000033180" "GUCA1B"
"0000033180" "PDE6B"
"0000033192" "ABCA4"
"0000033192" "GUCA1B"
"0000033192" "RP2"
"0000033195" "CA4"
"0000033195" "GUCA1B"
"0000033195" "RGR"
"0000033213" "GUCA1B"
"0000033213" "SNRNP200"
"0000033222" "GUCA1B"
"0000033222" "GUCY2D"
"0000033222" "NYX"
"0000233782" "GUCA1B"
"0000233783" "GUCA1B"
"0000233784" "GUCA1B"
"0000233785" "GUCA1B"
"0000233786" "GUCA1B"
"0000234786" "GUCA1B"
"0000300750" "ARHGEF18"
"0000329630" "GUCA1B"
"0000374708" "GUCA1B"
"0000374715" "GUCA1B"
"0000378577" "GUCA1B"
"0000380626" "GUCA1B"
"0000384015" "GUCY2D"
"0000385021" "GUCA1B"
"0000387419" "PRPH2"
"0000388201" "GUCA1B"
"0000397124" "GUCA1B"
"0000421844" "GUCA1B"
## 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 = 57
"{{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}}"
"0000059892" "1" "10" "6" "42153428" "42153428" "subst" "0.00850124" "00229" "GUCA1B_000001" "g.42153428C>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other family" "Germline" "" "" "0" "" "" "g.42185690C>A" "" "benign" ""
"0000059893" "1" "10" "6" "42153428" "42153428" "subst" "0.00850124" "00229" "GUCA1B_000001" "g.42153428C>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other family" "Germline" "" "" "0" "" "" "g.42185690C>A" "" "benign" ""
"0000059894" "1" "10" "6" "42153428" "42153428" "subst" "0.00850124" "00229" "GUCA1B_000001" "g.42153428C>A" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "no" "" "0" "" "" "g.42185690C>A" "" "benign" ""
"0000059895" "2" "10" "6" "42153410" "42153410" "subst" "0.0220897" "00229" "GUCA1B_000002" "g.42153410C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.42185672C>T" "" "benign" ""
"0000059896" "1" "10" "6" "42153410" "42153410" "subst" "0.0220897" "00229" "GUCA1B_000002" "g.42153410C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.42185672C>T" "" "benign" ""
"0000059897" "1" "10" "6" "42153410" "42153410" "subst" "0.0220897" "00229" "GUCA1B_000002" "g.42153410C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.42185672C>T" "" "benign" ""
"0000059898" "1" "10" "6" "42153410" "42153410" "subst" "0.0220897" "00229" "GUCA1B_000002" "g.42153410C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "no" "" "0" "" "" "g.42185672C>T" "" "benign" ""
"0000059899" "1" "10" "6" "42153410" "42153410" "subst" "0.0220897" "00229" "GUCA1B_000002" "g.42153410C>T" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign; not segregating with disease in other families" "Germline" "" "" "0" "" "" "g.42185672C>T" "" "benign" ""
"0000059900" "1" "10" "6" "42152689" "42152689" "subst" "2.84518E-5" "00229" "GUCA1B_000003" "g.42152689G>C" "" "{PMID:Neveling 2012:22334370}" "" "" "predicted benign" "Germline" "" "" "0" "" "" "g.42184951G>C" "" "benign" ""
"0000248579" "0" "10" "6" "42162388" "42162388" "subst" "0.647485" "02325" "GUCA1B_000007" "g.42162388A>G" "" "" "" "GUCA1B(NM_002098.6):c.171T>C (p.Y57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42194650A>G" "" "benign" ""
"0000249096" "0" "10" "6" "42162575" "42162575" "subst" "0.863447" "02325" "GUCA1B_000010" "g.42162575A>G" "" "" "" "GUCA1B(NM_002098.6):c.-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42194837A>G" "" "benign" ""
"0000277517" "0" "10" "6" "42147151" "42147151" "subst" "0.000519751" "02330" "GUCA1A_000009" "g.42147151C>A" "" "" "" "LOC118142757(NM_000409.5):c.*10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42179413C>A" "" "benign" ""
"0000277520" "0" "10" "6" "42146032" "42146032" "subst" "4.06382E-6" "02330" "GUCA1A_000005" "g.42146032T>C" "" "" "" "LOC118142757(NM_000409.5):c.216T>C (p.D72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42178294T>C" "" "benign" ""
"0000277521" "0" "10" "6" "42146963" "42146963" "subst" "0.00220733" "02330" "GUCA1A_000006" "g.42146963C>A" "" "" "" "LOC118142757(NM_001319061.2):c.446-18C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42179225C>A" "" "benign" ""
"0000277522" "0" "70" "6" "42147061" "42147061" "subst" "0" "02330" "GUCA1A_000007" "g.42147061C>T" "" "" "" "LOC118142757(NM_000409.5):c.526C>T (p.L176F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42179323C>T" "" "likely pathogenic" ""
"0000277523" "0" "10" "6" "42156424" "42156424" "subst" "0.00127596" "02330" "GUCA1B_000006" "g.42156424C>T" "" "" "" "GUCA1B(NM_002098.6):c.253G>A (p.V85M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42188686C>T" "" "benign" ""
"0000277524" "0" "10" "6" "42153494" "42153494" "subst" "0.00122725" "02330" "GUCA1B_000005" "g.42153494T>C" "" "" "" "GUCA1B(NM_002098.6):c.399A>G (p.Q133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42185756T>C" "" "benign" ""
"0000288887" "0" "30" "6" "42147102" "42147102" "subst" "0.00330007" "01943" "GUCA1A_000008" "g.42147102C>T" "" "" "" "GUCA1A(NM_000409.4):c.567C>T (p.D189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42179364C>T" "" "likely benign" ""
"0000288888" "0" "30" "6" "42152586" "42152586" "subst" "8.93568E-5" "01943" "GUCA1B_000004" "g.42152586G>A" "" "" "" "GUCA1B(NM_002098.5):c.570C>T (p.L190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42184848G>A" "" "likely benign" ""
"0000340057" "0" "10" "6" "42162388" "42162388" "subst" "0.647485" "02327" "GUCA1B_000007" "g.42162388A>G" "" "" "" "GUCA1B(NM_002098.6):c.171T>C (p.Y57=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42194650A>G" "" "benign" ""
"0000343192" "0" "50" "6" "42162372" "42162372" "subst" "0.000191334" "02327" "GUCA1B_000008" "g.42162372G>A" "" "" "" "GUCA1B(NM_002098.6):c.187C>T (p.(Arg63Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42194634G>A" "" "VUS" ""
"0000346794" "0" "50" "6" "42146028" "42146028" "subst" "1.626E-5" "02327" "GUCA1A_000010" "g.42146028T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42178290T>C" "" "VUS" ""
"0000476490" "0" "50" "6" "42153424" "42153424" "subst" "0.000101649" "02591" "GUCA1B_000011" "g.42153424C>T" "23/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs121909124" "0" "" "" "g.42185686C>T" "" "VUS" ""
"0000476491" "0" "50" "6" "42153504" "42153504" "subst" "2.03315E-5" "02591" "GUCA1B_000012" "g.42153504C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs564752140" "0" "" "" "g.42185766C>T" "" "VUS" ""
"0000476492" "0" "50" "6" "42162494" "42162494" "subst" "0.000154885" "02591" "GUCA1B_000013" "g.42162494T>C" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs377415238" "0" "" "" "g.42194756T>C" "" "VUS" ""
"0000476493" "0" "50" "6" "42162530" "42162530" "subst" "0.000109597" "02591" "GUCA1B_000014" "g.42162530G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs555181489" "0" "" "" "g.42194792G>A" "" "VUS" ""
"0000476494" "0" "50" "6" "42162544" "42162544" "subst" "2.98194E-5" "02591" "GUCA1B_000015" "g.42162544A>C" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202229506" "0" "" "" "g.42194806A>C" "" "VUS" ""
"0000477494" "3" "50" "6" "42153424" "42153424" "subst" "0.000101649" "02591" "GUCA1B_000011" "g.42153424C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs121909124" "0" "" "" "g.42185686C>T" "" "VUS" ""
"0000528846" "0" "90" "6" "42146147" "42146147" "subst" "0" "02330" "GUCA1A_000017" "g.42146147G>A" "" "" "" "LOC118142757(NM_000409.5):c.331G>A (p.E111K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42178409G>A" "" "pathogenic" ""
"0000528848" "0" "30" "6" "42153507" "42153507" "subst" "0.000101645" "02330" "GUCA1B_000016" "g.42153507C>T" "" "" "" "GUCA1B(NM_002098.6):c.386G>A (p.R129Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42185769C>T" "" "likely benign" ""
"0000610347" "0" "30" "6" "42162376" "42162376" "subst" "8.13776E-6" "01943" "GUCA1B_000017" "g.42162376C>T" "" "" "" "GUCA1B(NM_002098.5):c.183G>A (p.M61I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42194638C>T" "" "likely benign" ""
"0000655589" "0" "30" "6" "42162472" "42162472" "subst" "0.00100332" "02330" "GUCA1B_000018" "g.42162472C>T" "" "" "" "GUCA1B(NM_002098.6):c.87G>A (p.V29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42194734C>T" "" "likely benign" ""
"0000663571" "1" "50" "6" "42156424" "42156424" "subst" "0.00127596" "00006" "GUCA1B_000006" "g.42156424C>T" "" "{PMID:Arno 2017:28132693}" "" "" "ExAC MAF too high for dominant disease allele" "Germline" "" "" "0" "" "" "g.42188686C>T" "" "VUS" ""
"0000713978" "1" "70" "6" "42152642" "42152642" "subst" "4.46759E-5" "00000" "GUCA1B_000019" "g.42152642G>A" "" "{PMID:Zhou 2018:29453956}" "" "" "" "Germline" "" "" "0" "" "" "g.42184904G>A" "" "likely pathogenic (dominant)" ""
"0000763769" "0" "50" "6" "42153428" "42153428" "subst" "0.00850124" "00000" "GUCA1B_000001" "g.42153428C>A" "" "{PMID:Duvvari 2016:27007659}" "" "465C>A" "" "Germline" "" "rs139923590" "0" "" "" "g.42185690C>A" "" "VUS" ""
"0000784190" "0" "90" "6" "42153532" "42153532" "subst" "1.62764E-5" "00000" "GUCA1B_000020" "g.42153532T>C" "" "{PMID:Xu 2014:24938718}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.42185794T>C" "" "pathogenic (dominant)" ""
"0000785531" "0" "90" "6" "42162428" "42162428" "subst" "1.21894E-5" "00000" "GUCA1B_000021" "g.42162428C>T" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.42194690C>T" "" "pathogenic (dominant)" ""
"0000785538" "0" "50" "6" "42162440" "42162440" "subst" "4.06316E-6" "00000" "GUCA1B_000022" "g.42162440T>C" "" "{PMID:Fernandez-San Jose 2015:25698705}" "" "" "" "Germline" "" "" "0" "" "" "g.42194702T>C" "" "VUS" ""
"0000790488" "0" "50" "6" "42153428" "42153428" "subst" "0.00850124" "00000" "GUCA1B_000001" "g.42153428C>A" "" "{PMID:Wang 2014:25097241}" "" "" "" "Germline" "" "rs139923590" "0" "" "" "g.42185690C>A" "" "VUS" ""
"0000791426" "0" "70" "6" "42162428" "42162428" "subst" "1.21894E-5" "00000" "GUCA1B_000021" "g.42162428C>T" "1/258" "{PMID:Martin-Merida 2018:29847639}" "" "" "" "Germline" "?" "" "0" "" "" "g.42194690C>T" "" "likely pathogenic" ""
"0000793778" "0" "70" "6" "42152642" "42152642" "subst" "4.46759E-5" "00000" "GUCA1B_000019" "g.42152642G>A" "" "{PMID:Zhou-2011:21677794}" "" "c.514C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000798438" "0" "70" "6" "42156424" "42156424" "subst" "0.00127596" "00000" "GUCA1B_000006" "g.42156424C>T" "" "{PMID:Song-2011:22025579}" "" "c.253G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000802593" "0" "30" "6" "42146178" "42146178" "subst" "0" "02330" "GUCA1A_000031" "g.42146178C>T" "" "" "" "LOC118142757(NM_001319061.2):c.351+11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000802594" "0" "30" "6" "42156359" "42156359" "subst" "4.46846E-5" "02330" "GUCA1B_000023" "g.42156359A>G" "" "" "" "GUCA1B(NM_002098.6):c.318T>C (p.N106=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000811862" "0" "70" "4" "42162494" "42162494" "subst" "0" "00000" "GUCA1B_000013" "g.42162494T>C" "" "{PMID:Gao 2019:31054281}" "" "c.65A>G, p.Gln22Arg" "heterozygous" "Germline" "?" "" "0" "" "" "g.42194756T>C" "" "likely pathogenic" ""
"0000815430" "0" "50" "6" "42152572" "42152572" "subst" "1.62481E-5" "00000" "GUCA1B_000024" "g.42152572C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "GUCA1B:NM_002098 c.G584A, p.R195Q" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.42184834C>T" "" "VUS" "ACMG"
"0000816660" "0" "70" "6" "42162406" "42162408" "del" "0" "00000" "GUCA1B_000025" "g.42162406_42162408del" "" "{PMID:Jauregui 2020:32098976}" "" "GUCA1B c.153_155del, p.D51del" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42194668_42194670del" "" "likely pathogenic" ""
"0000828870" "0" "50" "6" "42162429" "42162429" "subst" "0.000121889" "00000" "GUCA1B_000026" "g.42162429G>A" "" "{PMID:Chen 2021:43360855}" "" "GUCA1B c.[130C>T];[130=], V1: c.130C>T, (p.Arg44Cys)" "heterozygous" "Unknown" "?" "" "0" "" "" "g.42194691G>A" "" "VUS" "ACMG"
"0000887249" "0" "50" "6" "42146619" "42146619" "subst" "0" "02330" "GUCA1A_000059" "g.42146619A>C" "" "" "" "LOC118142757(NM_001319061.2):c.431A>C (p.D144A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000896659" "1" "50" "6" "42162429" "42162429" "subst" "0.000121889" "00000" "GUCA1B_000026" "g.42162429G>A" "Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.00152; GnomAD_All: 0.000115" "{PMID:Chen 2021:33608557}" "" "GUCA1B c.[130C>T];[130=]; p.(Arg44Cys)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.42194691G>A" "" "VUS" ""
"0000912521" "0" "50" "6" "42147000" "42147000" "subst" "0" "02327" "GUCA1A_000062" "g.42147000G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000958425" "0" "50" "6" "42152596" "42152596" "subst" "4.06121E-6" "00006" "GUCA1B_000027" "g.42152596C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.42184858C>T" "" "VUS" "ACMG"
"0000959163" "0" "70" "6" "42039467" "42275673" "dup" "0" "00006" "C6orf132_000007" "g.42039467_42275673dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000959435" "0" "50" "6" "42156346" "42156346" "subst" "4.06336E-6" "00006" "GUCA1B_000028" "g.42156346G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.42188608G>A" "" "VUS" "ACMG"
"0000977240" "0" "50" "6" "42162372" "42162372" "subst" "0.000191334" "01804" "GUCA1B_000008" "g.42162372G>A" "" "" "" "GUCA1B(NM_002098.6):c.187C>T (p.(Arg63Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995764" "0" "50" "6" "42146559" "42146559" "subst" "4.06088E-6" "02330" "GUCA1A_000064" "g.42146559C>T" "" "" "" "GUCA1A(NM_001384910.1):c.371C>T (p.P124L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000995765" "0" "30" "6" "42153486" "42153486" "subst" "0" "01804" "GUCA1B_000029" "g.42153486T>C" "" "" "" "GUCA1B(NM_002098.5):c.407A>G (p.(Gln136Arg))" "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 GUCA1B
## Count = 57
"{{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}}"
"0000059892" "00009060" "10" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Glu155Asp)" "3"
"0000059893" "00009060" "10" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Glu155Asp)" "3"
"0000059894" "00009060" "10" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Glu155Asp)" "3"
"0000059895" "00009060" "10" "475" "8" "475" "8" "c.475+8G>A" "r.(spl?)" "p.(?)" "3i"
"0000059896" "00009060" "10" "475" "8" "475" "8" "c.475+8G>A" "r.(spl?)" "p.(?)" "3i"
"0000059897" "00009060" "10" "475" "8" "475" "8" "c.475+8G>A" "r.(spl?)" "p.(?)" "3i"
"0000059898" "00009060" "10" "475" "8" "475" "8" "c.475+8G>A" "r.(spl?)" "p.(?)" "3i"
"0000059899" "00009060" "10" "475" "8" "475" "8" "c.475+8G>A" "r.(spl?)" "p.(?)" "3i"
"0000059900" "00009060" "10" "476" "-9" "476" "-9" "c.476-9C>G" "r.(spl?)" "p.(?)" "3i"
"0000248579" "00009060" "10" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Tyr57=)" ""
"0000249096" "00009060" "10" "-17" "0" "-17" "0" "c.-17=" "r.(=)" "p.(=)" ""
"0000277517" "00009060" "10" "6005" "0" "6005" "0" "c.*5402G>T" "r.(=)" "p.(=)" ""
"0000277520" "00009060" "10" "7124" "0" "7124" "0" "c.*6521A>G" "r.(=)" "p.(=)" ""
"0000277521" "00009060" "10" "6193" "0" "6193" "0" "c.*5590G>T" "r.(=)" "p.(=)" ""
"0000277522" "00009060" "70" "6095" "0" "6095" "0" "c.*5492G>A" "r.(=)" "p.(=)" ""
"0000277523" "00009060" "10" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Met)" ""
"0000277524" "00009060" "10" "399" "0" "399" "0" "c.399A>G" "r.(?)" "p.(Gln133=)" ""
"0000288887" "00009060" "30" "6054" "0" "6054" "0" "c.*5451G>A" "r.(=)" "p.(=)" ""
"0000288888" "00009060" "30" "570" "0" "570" "0" "c.570C>T" "r.(?)" "p.(Leu190=)" ""
"0000340057" "00009060" "10" "171" "0" "171" "0" "c.171T>C" "r.(?)" "p.(Tyr57=)" ""
"0000343192" "00009060" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Ter)" ""
"0000346794" "00009060" "50" "7128" "0" "7128" "0" "c.*6525A>G" "r.(=)" "p.(=)" ""
"0000476490" "00009060" "50" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Gly157Arg)" ""
"0000476491" "00009060" "50" "389" "0" "389" "0" "c.389G>A" "r.(?)" "p.(Arg130Gln)" ""
"0000476492" "00009060" "50" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Gln22Arg)" ""
"0000476493" "00009060" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Ala10Val)" ""
"0000476494" "00009060" "50" "15" "0" "15" "0" "c.15T>G" "r.(?)" "p.(Phe5Leu)" ""
"0000477494" "00009060" "50" "469" "0" "469" "0" "c.469G>A" "r.(?)" "p.(Gly157Arg)" ""
"0000528846" "00009060" "90" "7009" "0" "7009" "0" "c.*6406C>T" "r.(=)" "p.(=)" ""
"0000528848" "00009060" "30" "386" "0" "386" "0" "c.386G>A" "r.(?)" "p.(Arg129Gln)" ""
"0000610347" "00009060" "30" "183" "0" "183" "0" "c.183G>A" "r.(?)" "p.(Met61Ile)" ""
"0000655589" "00009060" "30" "87" "0" "87" "0" "c.87G>A" "r.(?)" "p.(Val29=)" ""
"0000663571" "00009060" "50" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Met)" ""
"0000713978" "00009060" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" ""
"0000763769" "00009060" "50" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Glu155Asp)" ""
"0000784190" "00009060" "90" "361" "0" "361" "0" "c.361A>G" "r.(?)" "p.(Ile121Val)" ""
"0000785531" "00009060" "90" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44His)" ""
"0000785538" "00009060" "50" "119" "0" "119" "0" "c.119A>G" "r.(?)" "p.(His40Arg)" ""
"0000790488" "00009060" "50" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Glu155Asp)" ""
"0000791426" "00009060" "70" "131" "0" "131" "0" "c.131G>A" "r.(?)" "p.(Arg44His)" "1"
"0000793778" "00009060" "70" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Arg172Trp)" "4"
"0000798438" "00009060" "70" "253" "0" "253" "0" "c.253G>A" "r.(?)" "p.(Val85Met)" "2"
"0000802593" "00009060" "30" "6978" "0" "6978" "0" "c.*6375G>A" "r.(=)" "p.(=)" ""
"0000802594" "00009060" "30" "318" "0" "318" "0" "c.318T>C" "r.(?)" "p.(Asn106=)" ""
"0000811862" "00009060" "70" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Gln22Arg)" ""
"0000815430" "00009060" "50" "584" "0" "584" "0" "c.584G>A" "r.(?)" "p.(Arg195Gln)" ""
"0000816660" "00009060" "70" "153" "0" "155" "0" "c.153_155del" "r.(?)" "p.(Asp51del)" ""
"0000828870" "00009060" "50" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44Cys)" ""
"0000887249" "00009060" "50" "6537" "0" "6537" "0" "c.*5934T>G" "r.(=)" "p.(=)" ""
"0000896659" "00009060" "50" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44Cys)" ""
"0000912521" "00009060" "50" "6156" "0" "6156" "0" "c.*5553C>A" "r.(=)" "p.(=)" ""
"0000958425" "00009060" "50" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Ser187Asn)" ""
"0000959163" "00009060" "70" "-113115" "0" "113689" "0" "c.-113115_*113086dup" "r.0?" "p.0?" ""
"0000959435" "00009060" "50" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Cys)" ""
"0000977240" "00009060" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Ter)" ""
"0000995764" "00009060" "50" "6597" "0" "6597" "0" "c.*5994G>A" "r.(=)" "p.(=)" ""
"0000995765" "00009060" "30" "407" "0" "407" "0" "c.407A>G" "r.(?)" "p.(Gln136Arg)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 33
"{{screeningid}}" "{{variantid}}"
"0000033162" "0000059892"
"0000033162" "0000059895"
"0000033176" "0000059896"
"0000033177" "0000059897"
"0000033180" "0000059898"
"0000033192" "0000059893"
"0000033195" "0000059899"
"0000033213" "0000059900"
"0000033222" "0000059894"
"0000233782" "0000476490"
"0000233783" "0000476491"
"0000233784" "0000476492"
"0000233785" "0000476493"
"0000233786" "0000476494"
"0000234786" "0000477494"
"0000300750" "0000663571"
"0000329630" "0000713978"
"0000363234" "0000763769"
"0000373877" "0000784190"
"0000374708" "0000785531"
"0000374715" "0000785538"
"0000377961" "0000790488"
"0000378577" "0000791426"
"0000380626" "0000793778"
"0000384015" "0000798438"
"0000385021" "0000811862"
"0000387419" "0000815430"
"0000388201" "0000816660"
"0000397124" "0000828870"
"0000421844" "0000896659"
"0000448541" "0000958425"
"0000448959" "0000959163"
"0000449214" "0000959435"