### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RGS9BP)
# 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}}"
"RGS9BP" "regulator of G protein signaling 9 binding protein" "19" "q13.11" "unknown" "NG_016751.1" "UD_132085229735" "" "https://www.LOVD.nl/RGS9BP" "" "1" "30304" "388531" "607814" "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/RGS9BP_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-16 00:00:00" "00006" "2020-11-26 19:11:16" "00000" "2024-04-19 20:27:30"
## 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}}"
"00017709" "RGS9BP" "regulator of G protein signaling 9 binding protein" "001" "NM_207391.2" "" "NP_997274.2" "" "" "" "-857" "2037" "708" "33166313" "33169206" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02759" "PERRS" "Bradyopsia" "" "608415" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"07117" "PERRS2" "prolonged electroretinal response suppression, type 2" "AR" "620344" "" "" "" "00006" "2024-11-11 21:43:12" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"RGS9BP" "02759"
"RGS9BP" "07117"
## Individuals ## Do not remove or alter this header ##
## Count = 8
"{{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}}"
"00292070" "" "" "" "105" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304651" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00308673" "" "" "" "1" "" "00004" "{PMID:Kim 2019:31144483}" "" "" "" "Korea" "" "0" "" "" "" ""
"00362169" "" "" "" "1" "" "00000" "{PMID:Oishi 2016:26957898}" "" "" "" "Japan" "" "0" "" "" "" "K3479"
"00362214" "" "" "" "1" "" "04043" "{PMID:Fadaie 2021:34795310}" "" "M" "" "Israel" "" "0" "" "" "" "Pat21"
"00363698" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "12DG1096"
"00383519" "" "" "" "1" "" "00000" "{PMID:Kim 2019:31496144}" "" "?" "" "Korea, South (Republic)" "" "0" "" "" "" "?"
"00447616" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1243"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{individualid}}" "{{diseaseid}}"
"00292070" "00198"
"00304651" "00198"
"00308673" "04214"
"00362169" "04214"
"00362214" "04214"
"00363698" "04214"
"00383519" "04214"
"00447616" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02759, 04214, 07117
## Count = 6
"{{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}}"
"0000234101" "04214" "00308673" "00004" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000257583" "04214" "00362169" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "bradyopsia" ""
"0000257628" "04214" "00362214" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "con-rod dystrophy" ""
"0000259048" "04214" "00363698" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" ""
"0000277304" "04214" "00383519" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Macular dystrophy" ""
"0000336815" "00198" "00447616" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" ""
## Screenings ## Do not remove or alter this header ##
## Count = 8
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000293238" "00292070" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305780" "00304651" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000309818" "00308673" "1" "00004" "00006" "2020-08-27 14:47:58" "" "" "SEQ;SEQ-NG" "DNA" "" "204 gene panel"
"0000363398" "00362169" "1" "00000" "00006" "2021-04-15 15:27:01" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000363443" "00362214" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" ""
"0000364926" "00363698" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000384744" "00383519" "1" "00000" "03840" "2021-09-29 12:00:07" "" "" "SEQ-NG-I" "DNA" "blood" "204 genes associated with inherited retinal disorders; see paper"
"0000449193" "00447616" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{geneid}}"
"0000309818" "RGS9BP"
"0000363398" "RGS9BP"
"0000363443" "RGS9BP"
"0000364926" "RGS9BP"
"0000384744" "RGS9BP"
## 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 = 29
"{{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}}"
"0000254971" "0" "30" "19" "33167566" "33167566" "subst" "0.000356529" "01943" "RGS9BP_000007" "g.33167566A>C" "" "" "" "RGS9BP(NM_207391.2):c.397A>C (p.S133R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32676660A>C" "" "likely benign" ""
"0000294836" "0" "10" "19" "33167274" "33167274" "subst" "9.71604E-5" "02330" "RGS9BP_000001" "g.33167274C>T" "" "" "" "RGS9BP(NM_207391.3):c.105C>T (p.N35=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32676368C>T" "" "benign" ""
"0000294837" "0" "50" "19" "33167338" "33167338" "subst" "1.48552E-5" "02330" "RGS9BP_000003" "g.33167338C>T" "" "" "" "RGS9BP(NM_207391.3):c.169C>T (p.R57W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32676432C>T" "" "VUS" ""
"0000294838" "0" "50" "19" "33167534" "33167534" "subst" "8.25573E-5" "02330" "RGS9BP_000005" "g.33167534C>G" "" "" "" "RGS9BP(NM_207391.2):c.365C>G (p.S122C), RGS9BP(NM_207391.3):c.365C>G (p.S122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32676628C>G" "" "VUS" ""
"0000294839" "0" "10" "19" "33167565" "33167565" "subst" "0" "02330" "RGS9BP_000006" "g.33167565C>T" "" "" "" "RGS9BP(NM_207391.3):c.396C>T (p.R132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32676659C>T" "" "benign" ""
"0000297665" "0" "10" "19" "33167879" "33167879" "subst" "0.602652" "02325" "RGS9BP_000009" "g.33167879G>A" "" "" "" "RGS9BP(NM_207391.3):c.*2G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32676973G>A" "" "benign" ""
"0000297666" "0" "10" "19" "33167455" "33167455" "subst" "0.593467" "02325" "RGS9BP_000004" "g.33167455G>T" "" "" "" "RGS9BP(NM_207391.3):c.286G>T (p.A96S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32676549G>T" "" "benign" ""
"0000307067" "0" "50" "19" "33167295" "33167295" "subst" "0.000279423" "01943" "RGS9BP_000002" "g.33167295G>C" "" "" "" "RGS9BP(NM_207391.2):c.126G>C (p.K42N), RGS9BP(NM_207391.3):c.126G>C (p.K42N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32676389G>C" "" "VUS" ""
"0000307068" "0" "30" "19" "33167865" "33167865" "subst" "0.0171485" "01943" "RGS9BP_000008" "g.33167865G>A" "" "" "" "RGS9BP(NM_207391.2):c.696G>A (p.A232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.32676959G>A" "" "likely benign" ""
"0000566822" "0" "50" "19" "33167295" "33167295" "subst" "0.000279423" "02330" "RGS9BP_000002" "g.33167295G>C" "" "" "" "RGS9BP(NM_207391.2):c.126G>C (p.K42N), RGS9BP(NM_207391.3):c.126G>C (p.K42N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32676389G>C" "" "VUS" ""
"0000566823" "0" "90" "19" "33167446" "33167447" "del" "0" "02330" "ANKRD27_000004" "g.33167446_33167447del" "" "" "" "RGS9BP(NM_207391.3):c.277_278delAT (p.M93Afs*206)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32676540_32676541del" "" "pathogenic" ""
"0000566824" "0" "50" "19" "33167497" "33167497" "subst" "0" "02330" "ANKRD27_000005" "g.33167497C>T" "" "" "" "RGS9BP(NM_207391.3):c.328C>T (p.R110W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32676591C>T" "" "VUS" ""
"0000566825" "0" "50" "19" "33167525" "33167525" "subst" "0" "01943" "ANKRD27_000006" "g.33167525G>A" "" "" "" "RGS9BP(NM_207391.2):c.356G>A (p.G119D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32676619G>A" "" "VUS" ""
"0000566826" "0" "30" "19" "33167641" "33167641" "subst" "0" "01943" "ANKRD27_000007" "g.33167641G>A" "" "" "" "RGS9BP(NM_207391.2):c.472G>A (p.G158S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32676735G>A" "" "likely benign" ""
"0000566827" "0" "50" "19" "33167798" "33167798" "subst" "0" "02330" "ANKRD27_000008" "g.33167798A>G" "" "" "" "RGS9BP(NM_207391.3):c.629A>G (p.K210R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32676892A>G" "" "VUS" ""
"0000623968" "0" "50" "19" "33167534" "33167534" "subst" "8.25573E-5" "01943" "RGS9BP_000005" "g.33167534C>G" "" "" "" "RGS9BP(NM_207391.2):c.365C>G (p.S122C), RGS9BP(NM_207391.3):c.365C>G (p.S122C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32676628C>G" "" "VUS" ""
"0000649927" "1" "10" "19" "33167837" "33167837" "subst" "0.0313953" "03575" "RGS9BP_000010" "g.33167837C>T" "105/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "105 heterozygous; {DB:CLININrs35413309}" "Germline" "" "rs35413309" "0" "" "" "g.32676931C>T" "" "benign" ""
"0000669468" "3" "10" "19" "33167837" "33167837" "subst" "0.0313953" "03575" "RGS9BP_000010" "g.33167837C>T" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs35413309}" "Germline" "" "rs35413309" "0" "" "" "g.32676931C>T" "" "benign" ""
"0000684691" "1" "70" "19" "33167380" "33167380" "subst" "0" "00004" "RGS9BP_000011" "g.33167380G>T" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG"
"0000684719" "2" "90" "19" "33167783" "33167783" "dup" "0" "00004" "RGS9BP_000012" "g.33167783dup" "1/86 cases" "{PMID:Kim 2019:31144483}" "" "c.614_615insG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000692736" "0" "50" "19" "33167363" "33167363" "subst" "0" "01943" "ANKRD27_000012" "g.33167363G>C" "" "" "" "RGS9BP(NM_207391.2):c.194G>C (p.R65P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000764035" "3" "70" "19" "33167380" "33167380" "subst" "0" "00000" "RGS9BP_000011" "g.33167380G>T" "" "{PMID:Oishi 2016:26957898}" "" "" "" "Germline" "" "" "0" "" "" "g.32676474G>T" "" "likely pathogenic" ""
"0000764098" "3" "90" "19" "33167752" "33167752" "subst" "0.000143764" "04043" "RGS9BP_000013" "g.33167752T>G" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "yes" "" "0" "" "" "g.32676846T>G" "" "pathogenic (recessive)" ""
"0000765868" "0" "70" "19" "33167499" "33167511" "del" "0" "00000" "RGS9BP_000014" "g.33167499_33167511del" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.32676593_32676605del" "" "likely pathogenic" ""
"0000811512" "0" "70" "1" "94506817" "94506817" "subst" "0" "00000" "ABCA4_001342" "g.94506817A>C" "" "{PMID:Kim 2019:31496144}" "" "RGS9BP c.211G>T, p.E71X" "" "Germline" "?" "" "0" "" "" "g.94041261A>C" "" "likely pathogenic" "ACMG"
"0000811538" "0" "90" "6" "42672272" "42672277" "del" "0" "00000" "PRPH2_000020" "g.42672272_42672277del" "" "{PMID:Kim 2019:31496144}" "" "RGS9BP c.614_615insG, p.G205delinsGLfs" "error in protein variant annotation" "Germline" "?" "" "0" "" "" "g.42704534_42704539del" "" "pathogenic" "ACMG"
"0000959402" "0" "70" "19" "33167783" "33167783" "dup" "0" "00006" "RGS9BP_000012" "g.33167783dup" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.32676877dup" "" "likely pathogenic (recessive)" "ACMG"
"0000983357" "0" "50" "19" "33183393" "33183393" "subst" "0" "01804" "ANKRD27_000013" "g.33183393G>A" "" "" "" "NUDT19(NM_001105570.2):c.527G>A (p.(Arg176His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000983358" "0" "50" "19" "33183558" "33183558" "subst" "0" "01804" "ANKRD27_000014" "g.33183558T>C" "" "" "" "NUDT19(NM_001105570.2):c.692T>C (p.(Leu231Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes RGS9BP
## Count = 29
"{{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}}"
"0000254971" "00017709" "30" "397" "0" "397" "0" "c.397A>C" "r.(?)" "p.(Ser133Arg)" ""
"0000294836" "00017709" "10" "105" "0" "105" "0" "c.105C>T" "r.(?)" "p.(Asn35=)" ""
"0000294837" "00017709" "50" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Trp)" ""
"0000294838" "00017709" "50" "365" "0" "365" "0" "c.365C>G" "r.(?)" "p.(Ser122Cys)" ""
"0000294839" "00017709" "10" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Arg132=)" ""
"0000297665" "00017709" "10" "710" "0" "710" "0" "c.*2G>A" "r.(=)" "p.(=)" ""
"0000297666" "00017709" "10" "286" "0" "286" "0" "c.286G>T" "r.(?)" "p.(Ala96Ser)" ""
"0000307067" "00017709" "50" "126" "0" "126" "0" "c.126G>C" "r.(?)" "p.(Lys42Asn)" ""
"0000307068" "00017709" "30" "696" "0" "696" "0" "c.696G>A" "r.(?)" "p.(Ala232=)" ""
"0000566822" "00017709" "50" "126" "0" "126" "0" "c.126G>C" "r.(?)" "p.(Lys42Asn)" ""
"0000566823" "00017709" "90" "277" "0" "278" "0" "c.277_278del" "r.(?)" "p.(Met93AlafsTer206)" ""
"0000566824" "00017709" "50" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Trp)" ""
"0000566825" "00017709" "50" "356" "0" "356" "0" "c.356G>A" "r.(?)" "p.(Gly119Asp)" ""
"0000566826" "00017709" "30" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Gly158Ser)" ""
"0000566827" "00017709" "50" "629" "0" "629" "0" "c.629A>G" "r.(?)" "p.(Lys210Arg)" ""
"0000623968" "00017709" "50" "365" "0" "365" "0" "c.365C>G" "r.(?)" "p.(Ser122Cys)" ""
"0000649927" "00017709" "10" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Ala223Val)" ""
"0000669468" "00017709" "10" "668" "0" "668" "0" "c.668C>T" "r.(?)" "p.(Ala223Val)" ""
"0000684691" "00017709" "70" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Glu71*)" ""
"0000684719" "00017709" "90" "614" "0" "614" "0" "c.614dup" "r.(?)" "p.(Cys206Leufs*94)" ""
"0000692736" "00017709" "50" "194" "0" "194" "0" "c.194G>C" "r.(?)" "p.(Arg65Pro)" ""
"0000764035" "00017709" "70" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Glu71Ter)" ""
"0000764098" "00017709" "90" "583" "0" "583" "0" "c.583T>G" "r.583u>g" "p.(Ser195Ala)" "1"
"0000765868" "00017709" "70" "330" "0" "342" "0" "c.330_342del" "r.(?)" "p.(Pro111GlnfsTer15)" ""
"0000811512" "00017709" "70" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Glu71Ter)" ""
"0000811538" "00017709" "90" "614" "0" "614" "0" "c.614dup" "r.(?)" "p.(Cys206LeufsTer94)" ""
"0000959402" "00017709" "70" "614" "0" "614" "0" "c.614dup" "r.(?)" "p.(Cys206LeufsTer94)" ""
"0000983357" "00017709" "50" "16224" "0" "16224" "0" "c.*15516G>A" "r.(=)" "p.(=)" ""
"0000983358" "00017709" "50" "16389" "0" "16389" "0" "c.*15681T>C" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}" "{{variantid}}"
"0000293238" "0000649927"
"0000305780" "0000669468"
"0000309818" "0000684691"
"0000309818" "0000684719"
"0000363398" "0000764035"
"0000363443" "0000764098"
"0000364926" "0000765868"
"0000384744" "0000811512"
"0000384744" "0000811538"
"0000449193" "0000959402"