### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C17orf62)
# 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}}"
"C17orf62" "chromosome 17 open reading frame 62" "17" "q25.3" "unknown" "NC_000017.10" "UD_132612574878" "" "https://www.LOVD.nl/CYBC1" "" "1" "28672" "79415" "618334" "1" "1" "1" "1" "NOTE: gene name changed from C17orf62 to CYBC1\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/C17orf62_codingDNA.html" "1" "" "NOTE: gene name changed from C17orf62 to CYBC1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-08-12 17:26:15" "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}}"
"00004095" "C17orf62" "transcript variant 2" "006" "NM_001033046.3" "" "NP_001028218.1" "" "" "" "-170" "1982" "564" "80408707" "80400462" "" "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"
"05349" "CGD" "granulomatous disease, chronic" "" "" "" "" "" "00006" "2017-11-24 16:14:58" "00006" "2023-02-13 16:42:42"
"06954" "CGD5" "chronic granulomatous disease, type 5" "AR" "618935" "" "" "" "00006" "2022-08-12 17:27:32" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"C17orf62" "05349"
"C17orf62" "06954"
## 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}}"
"00415357" "" "" "" "2" "" "00006" "{PMID:Arnadottir 2018:30361506}" "2 generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "" "Iceland" "" "0" "" "" "" "FamPatA/B"
"00415358" "" "" "" "1" "" "00006" "{PMID:Arnadottir 2018:30361506}" "" "M" "" "Iceland" "" "0" "" "" "" "PatC"
"00415359" "" "" "" "1" "" "00006" "{PMID:Arnadottir 2018:30361506}" "" "F" "" "Iceland" "" "0" "" "" "" "PatD"
"00415360" "" "" "" "1" "" "00006" "{PMID:Arnadottir 2018:30361506}" "" "M" "" "Iceland" "" "0" "" "" "" "PatE"
"00415361" "" "" "" "1" "" "00006" "{PMID:Arnadottir 2018:30361506}" "" "M" "" "Iceland" "" "0" "" "" "" "PatF"
"00415362" "" "" "" "1" "" "00006" "{PMID:Arnadottir 2018:30361506}" "" "F" "" "Iceland" "" "0" "" "" "" "PatG"
"00415363" "" "" "" "1" "" "00006" "{PMID:Arnadottir 2018:30361506}" "" "M" "" "Iceland" "" "0" "" "" "" "PatH"
"00415364" "" "" "" "1" "" "00006" "{PMID:Thomas 2019:30312704}, {PMID:Monies 2017:28600779}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "16W-0243"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 8
"{{individualid}}" "{{diseaseid}}"
"00415357" "05349"
"00415358" "05349"
"00415359" "05349"
"00415360" "05349"
"00415361" "05349"
"00415362" "05349"
"00415363" "05349"
"00415364" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 05349, 06954
## Count = 8
"{{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}}"
"0000307153" "05349" "00415357" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "CGD5" "chronic granulomatous disease" ""
"0000307154" "05349" "00415358" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "CGD5" "chronic granulomatous disease" ""
"0000307155" "05349" "00415359" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "CGD5" "chronic granulomatous disease" ""
"0000307156" "05349" "00415360" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "CGD5" "chronic granulomatous disease" ""
"0000307157" "05349" "00415361" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "CGD5" "chronic granulomatous disease" ""
"0000307158" "05349" "00415362" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "CGD5" "chronic granulomatous disease" ""
"0000307159" "05349" "00415363" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "CGD5" "chronic granulomatous disease" ""
"0000307160" "00198" "00415364" "00006" "Familial, autosomal recessive" "" "see paper; ..., fever, splenomegaly, lymphadenopathy, short stature, recurrent pulmonary infections, tonsillitis/\r\npharyngitis despite tonsillectomy" "" "" "" "" "" "" "" "" "CGD5" "" ""
## 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}}"
"0000416638" "00415357" "1" "00006" "00006" "2022-08-12 17:33:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS"
"0000416639" "00415358" "1" "00006" "00006" "2022-08-12 17:33:38" "" "" "SEQ;SEQ-NG" "DNA" "" "SEQ"
"0000416640" "00415359" "1" "00006" "00006" "2022-08-12 17:33:38" "" "" "SEQ;SEQ-NG" "DNA" "" "SEQ"
"0000416641" "00415360" "1" "00006" "00006" "2022-08-12 17:33:38" "" "" "SEQ;SEQ-NG" "DNA" "" "SEQ"
"0000416642" "00415361" "1" "00006" "00006" "2022-08-12 17:33:38" "" "" "SEQ;SEQ-NG" "DNA" "" "SEQ"
"0000416643" "00415362" "1" "00006" "00006" "2022-08-12 17:33:38" "" "" "SEQ;SEQ-NG" "DNA" "" "SEQ"
"0000416644" "00415363" "1" "00006" "00006" "2022-08-12 17:33:38" "" "" "SEQ;SEQ-NG" "DNA" "" "SEQ"
"0000416645" "00415364" "1" "00006" "00006" "2022-08-12 18:01:44" "" "" "SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000416639" "C17orf62"
"0000416640" "C17orf62"
"0000416641" "C17orf62"
"0000416642" "C17orf62"
"0000416643" "C17orf62"
"0000416644" "C17orf62"
## 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 = 26
"{{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}}"
"0000325784" "0" "50" "17" "80399056" "80399056" "subst" "0.00143651" "01804" "C17orf62_000001" "g.80399056C>T" "" "" "" "HEXDC(NM_173620.2):c.1166C>T (p.(Pro389Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82441180C>T" "" "VUS" ""
"0000325785" "0" "50" "17" "80400164" "80400164" "subst" "0.00127224" "01804" "C17orf62_000002" "g.80400164G>A" "" "" "" "HEXDC(NM_173620.2):c.1454G>A (p.(Cys485Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82442288G>A" "" "VUS" ""
"0000325786" "0" "50" "17" "80400236" "80400236" "subst" "0.00126261" "01804" "C17orf62_000003" "g.80400236C>A" "" "" "" "HEXDC(NM_173620.2):c.1526C>A (p.(Ala509Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.82442360C>A" "" "VUS" ""
"0000616933" "0" "50" "17" "80404516" "80404516" "subst" "0.000686372" "01943" "C17orf62_000004" "g.80404516T>C" "" "" "" "C17orf62(NM_001193653.1):c.184A>G (p.N62D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82446640T>C" "" "VUS" ""
"0000616934" "0" "90" "17" "80405460" "80405461" "del" "0" "01943" "C17orf62_000005" "g.80405460_80405461del" "" "" "" "C17orf62(NM_001193653.1):c.123_124delCG (p.S41Rfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82447584_82447585del" "" "pathogenic" ""
"0000658304" "0" "30" "17" "80401975" "80401975" "subst" "0.000289331" "01943" "C17orf62_000006" "g.80401975T>C" "" "" "" "CYBC1(NM_001193653.1):c.469A>G (p.I157V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.82444099T>C" "" "likely benign" ""
"0000692529" "0" "30" "17" "80403747" "80403747" "subst" "0.000438179" "02326" "C17orf62_000007" "g.80403747G>A" "" "" "" "CYBC1(NM_001193653.2):c.291C>T (p.H97=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692530" "0" "30" "17" "80403824" "80403824" "subst" "0.000138636" "02326" "C17orf62_000008" "g.80403824C>T" "" "" "" "CYBC1(NM_001193653.2):c.214G>A (p.D72N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000808353" "0" "30" "17" "80402406" "80402406" "subst" "0.000398147" "01943" "C17orf62_000009" "g.80402406G>A" "" "" "" "CYBC1(NM_001193653.1):c.360C>T (p.F120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855180" "0" "30" "17" "80402006" "80402006" "subst" "0.000483952" "01943" "C17orf62_000011" "g.80402006C>T" "" "" "" "CYBC1(NM_001033046.4):c.444-6G>A, CYBC1(NM_001193653.1):c.444-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000865571" "0" "30" "17" "80402003" "80402003" "subst" "0" "01943" "C17orf62_000010" "g.80402003G>C" "" "" "" "CYBC1(NM_001193653.1):c.444-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000874812" "3" "90" "17" "80407125" "80407125" "subst" "0" "00006" "C17orf62_000012" "g.80407125G>C" "" "{PMID:Arnadottir 2018:30361506}" "" "" "" "Germline" "yes" "" "0" "" "" "g.82449249G>C" "" "pathogenic (recessive)" ""
"0000874813" "3" "90" "17" "80407125" "80407125" "subst" "0" "00006" "C17orf62_000012" "g.80407125G>C" "" "{PMID:Arnadottir 2018:30361506}" "" "" "" "Germline" "yes" "" "0" "" "" "g.82449249G>C" "" "pathogenic (recessive)" ""
"0000874814" "3" "90" "17" "80407125" "80407125" "subst" "0" "00006" "C17orf62_000012" "g.80407125G>C" "" "{PMID:Arnadottir 2018:30361506}" "" "" "" "Germline" "yes" "" "0" "" "" "g.82449249G>C" "" "pathogenic (recessive)" ""
"0000874815" "3" "90" "17" "80407125" "80407125" "subst" "0" "00006" "C17orf62_000012" "g.80407125G>C" "" "{PMID:Arnadottir 2018:30361506}" "" "" "" "Germline" "yes" "" "0" "" "" "g.82449249G>C" "" "pathogenic (recessive)" ""
"0000874816" "3" "90" "17" "80407125" "80407125" "subst" "0" "00006" "C17orf62_000012" "g.80407125G>C" "" "{PMID:Arnadottir 2018:30361506}" "" "" "" "Germline" "yes" "" "0" "" "" "g.82449249G>C" "" "pathogenic (recessive)" ""
"0000874817" "3" "90" "17" "80407125" "80407125" "subst" "0" "00006" "C17orf62_000012" "g.80407125G>C" "" "{PMID:Arnadottir 2018:30361506}" "" "" "" "Germline" "yes" "" "0" "" "" "g.82449249G>C" "" "pathogenic (recessive)" ""
"0000874818" "3" "90" "17" "80407125" "80407125" "subst" "0" "00006" "C17orf62_000012" "g.80407125G>C" "" "{PMID:Arnadottir 2018:30361506}" "" "" "" "Germline" "yes" "" "0" "" "" "g.82449249G>C" "" "pathogenic (recessive)" ""
"0000874820" "3" "70" "17" "80405456" "80405456" "subst" "0" "00006" "C17orf62_000013" "g.80405456C>T" "" "{PMID:Thomas 2019:30312704}, {PMID:Monies 2017:28600779}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" ""
"0000894360" "0" "30" "17" "80402019" "80402019" "subst" "0.000423215" "02326" "C17orf62_000014" "g.80402019G>A" "" "" "" "CYBC1(NM_001033046.4):c.444-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926680" "0" "30" "17" "80402337" "80402337" "subst" "2.85871E-5" "02326" "C17orf62_000015" "g.80402337G>A" "" "" "" "CYBC1(NM_001033046.4):c.429C>T (p.V143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926681" "0" "30" "17" "80403807" "80403807" "subst" "2.03724E-5" "02326" "C17orf62_000016" "g.80403807C>T" "" "" "" "CYBC1(NM_001033046.4):c.231G>A (p.K77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926682" "0" "30" "17" "80405443" "80405443" "subst" "0" "02326" "C17orf62_000017" "g.80405443G>A" "" "" "" "CYBC1(NM_001033046.4):c.127+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930909" "0" "30" "17" "80402006" "80402006" "subst" "0.000483952" "02326" "C17orf62_000011" "g.80402006C>T" "" "" "" "CYBC1(NM_001033046.4):c.444-6G>A, CYBC1(NM_001193653.1):c.444-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001003862" "0" "30" "17" "80393680" "80393680" "subst" "0.00243437" "01804" "C17orf62_000018" "g.80393680G>A" "" "" "" "HEXDC(NM_173620.2):c.563G>A (p.(Arg188Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001042296" "0" "30" "17" "80394608" "80394608" "subst" "0.000199922" "01804" "C17orf62_000019" "g.80394608G>A" "" "" "" "HEXD(NM_001330542.2):c.697G>A (p.(Gly233Ser))" "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 C17orf62
## Count = 26
"{{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}}"
"0000325784" "00004095" "50" "3388" "0" "3388" "0" "c.*2824G>A" "r.(=)" "p.(=)" ""
"0000325785" "00004095" "50" "2280" "0" "2280" "0" "c.*1716C>T" "r.(=)" "p.(=)" ""
"0000325786" "00004095" "50" "2208" "0" "2208" "0" "c.*1644G>T" "r.(=)" "p.(=)" ""
"0000616933" "00004095" "50" "184" "0" "184" "0" "c.184A>G" "r.(?)" "p.(Asn62Asp)" ""
"0000616934" "00004095" "90" "123" "0" "124" "0" "c.123_124del" "r.(?)" "p.(Ser41ArgfsTer3)" ""
"0000658304" "00004095" "30" "469" "0" "469" "0" "c.469A>G" "r.(?)" "p.(Ile157Val)" ""
"0000692529" "00004095" "30" "291" "0" "291" "0" "c.291C>T" "r.(?)" "p.(His97=)" ""
"0000692530" "00004095" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Asp72Asn)" ""
"0000808353" "00004095" "30" "360" "0" "360" "0" "c.360C>T" "r.(?)" "p.(Phe120=)" ""
"0000855180" "00004095" "30" "444" "-6" "444" "-6" "c.444-6G>A" "r.(=)" "p.(=)" ""
"0000865571" "00004095" "30" "444" "-3" "444" "-3" "c.444-3C>G" "r.spl?" "p.?" ""
"0000874812" "00004095" "90" "6" "0" "6" "0" "c.6C>G" "r.(?)" "p.(Tyr2*)" ""
"0000874813" "00004095" "90" "6" "0" "6" "0" "c.6C>G" "r.(?)" "p.(Tyr2*)" ""
"0000874814" "00004095" "90" "6" "0" "6" "0" "c.6C>G" "r.(?)" "p.(Tyr2*)" ""
"0000874815" "00004095" "90" "6" "0" "6" "0" "c.6C>G" "r.(?)" "p.(Tyr2*)" ""
"0000874816" "00004095" "90" "6" "0" "6" "0" "c.6C>G" "r.(?)" "p.(Tyr2*)" ""
"0000874817" "00004095" "90" "6" "0" "6" "0" "c.6C>G" "r.(?)" "p.(Tyr2*)" ""
"0000874818" "00004095" "90" "6" "0" "6" "0" "c.6C>G" "r.(?)" "p.(Tyr2*)" ""
"0000874820" "00004095" "70" "127" "0" "127" "0" "c.127G>A" "r.spl?" "p.?" ""
"0000894360" "00004095" "30" "444" "-19" "444" "-19" "c.444-19C>T" "r.(=)" "p.(=)" ""
"0000926680" "00004095" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Val143=)" ""
"0000926681" "00004095" "30" "231" "0" "231" "0" "c.231G>A" "r.(?)" "p.(Lys77=)" ""
"0000926682" "00004095" "30" "127" "13" "127" "13" "c.127+13C>T" "r.(=)" "p.(=)" ""
"0000930909" "00004095" "30" "444" "-6" "444" "-6" "c.444-6G>A" "r.(=)" "p.(=)" ""
"0001003862" "00004095" "30" "8764" "0" "8764" "0" "c.*8200C>T" "r.(=)" "p.(=)" ""
"0001042296" "00004095" "30" "7836" "0" "7836" "0" "c.*7272C>T" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}" "{{variantid}}"
"0000416638" "0000874812"
"0000416639" "0000874813"
"0000416640" "0000874814"
"0000416641" "0000874815"
"0000416642" "0000874816"
"0000416643" "0000874817"
"0000416644" "0000874818"
"0000416645" "0000874820"