### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CCDC164)
# 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}}"
"CCDC164" "coiled-coil domain containing 164" "2" "p23.3" "unknown" "NC_000002.11" "UD_132378867489" "" "http://www.LOVD.nl/DRC1" "" "1" "24245" "92749" "615288" "1" "1" "1" "1" "ALIAS C2orf39, CCDC164.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from CCDC164 to DRC1" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-02-09 10:49:40" "00000" "2026-01-20 18:57:21"
## 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}}"
"00004574" "CCDC164" "coiled-coil domain containing 164" "001" "NM_145038.2" "" "NP_659475.2" "" "" "" "-74" "2417" "2223" "26624784" "26679579" "" "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"
"00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20"
"03890" "CILD21" "dyskinesia, ciliary, primary, 21 (CILD-21)" "AR" "615294" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"CCDC164" "00332"
"CCDC164" "03890"
## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00183331" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "DCP1801"
"00240388" "" "" "" "1" "" "02551" "" "" "F" "" "" "" "0" "" "" "" ""
"00462331" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems; 2-generation family, 1 affected, unaffected heterozygous carrier first-cousin parents" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat16"
"00462406" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" ""
"00468257" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "non-Hispanic;white" "LAT0882"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}" "{{diseaseid}}"
"00183331" "00332"
"00462331" "00332"
"00462406" "00332"
"00468257" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00332, 03890
## Count = 5
"{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000144069" "00332" "00183331" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" ""
"0000180453" "00198" "00240388" "02551" "Unknown" "" "HP:0012265 (Ciliary dyskinesia)" "" "" "" "" "" "" "" "" "" ""
"0000349830" "00332" "00462331" "00006" "Unknown" "" "primary ciliary dyskinesia; mother has clinical features of primary ciliary dyskinesia with same two variants, father not tested" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" ""
"0000349905" "00332" "00462406" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" ""
"0000353409" "00198" "00468257" "00006" "Di-genic" "" "see paper; ..., double outlet right ventricle, dextro-malposed great arteries, pulmonary stenosis; atrial situs solitus; right ventricular situs; right arterial situs; double outlet right ventricle, malposed great arteries" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" ""
## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000184292" "00183331" "1" "02596" "02596" "2018-10-23 00:52:20" "" "" "SEQ-NG" "DNA" "" ""
"0000241498" "00240388" "1" "02551" "02551" "2019-06-19 12:54:39" "" "" "SEQ" "DNA" "" ""
"0000463963" "00462331" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD"
"0000464038" "00462406" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD"
"0000469923" "00468257" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}" "{{geneid}}"
"0000184292" "CCDC164"
## 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 = 30
"{{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}}"
"0000339775" "0" "10" "2" "26683777" "26683777" "subst" "0.0460144" "02327" "OTOF_000221" "g.26683777G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.26460909G>A" "" "benign" ""
"0000408309" "3" "70" "2" "26637266" "26637269" "del" "0" "02596" "CCDC164_000001" "g.26637266_26637269del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.26414398_26414401del" "" "likely pathogenic" ""
"0000487480" "0" "50" "2" "26672934" "26672934" "subst" "0" "02551" "CCDC164_000002" "g.26672934G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.26450066G>T" "" "VUS" ""
"0000487481" "0" "70" "2" "26672954" "26672954" "subst" "0" "02551" "CCDC164_000003" "g.26672954G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.26450086G>C" "" "likely pathogenic" ""
"0000515479" "0" "30" "2" "26671561" "26671561" "subst" "0.000426438" "01804" "CCDC164_000004" "g.26671561G>C" "" "" "" "DRC1(NM_145038.2):c.1399G>C (p.(Glu467Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26448693G>C" "" "likely benign" ""
"0000515480" "0" "30" "2" "26672873" "26672873" "subst" "0.000354027" "01804" "CCDC164_000005" "g.26672873A>C" "" "" "" "DRC1(NM_145038.2):c.1519A>C (p.(Ile507Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26450005A>C" "" "likely benign" ""
"0000515481" "0" "30" "2" "26676248" "26676248" "subst" "0.000549726" "01804" "CCDC164_000006" "g.26676248T>A" "" "" "" "DRC1(NM_145038.2):c.1750T>A (p.(Ser584Thr)), DRC1(NM_145038.4):c.1750T>A (p.S584T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26453380T>A" "" "likely benign" ""
"0000515482" "0" "50" "2" "26683531" "26683531" "subst" "4.06468E-6" "01943" "CCDC164_000007" "g.26683531G>A" "" "" "" "OTOF(NM_194248.2):c.5797C>T (p.P1933S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26460663G>A" "" "VUS" ""
"0000607873" "0" "50" "2" "26624973" "26624973" "subst" "0" "01804" "CCDC164_000008" "g.26624973G>C" "" "" "" "DRC1(NM_145038.2):c.116G>C (p.(Arg39Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26402105G>C" "" "VUS" ""
"0000621013" "0" "30" "2" "26683586" "26683586" "subst" "0.00173957" "01943" "CCDC164_000009" "g.26683586C>T" "" "" "" "OTOF(NM_194248.2):c.5742G>A (p.L1914=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.26460718C>T" "" "likely benign" ""
"0000688724" "0" "50" "2" "26683543" "26683543" "subst" "0" "01943" "OTOF_000001" "g.26683543T>G" "" "" "" "OTOF(NM_194248.2):c.5785A>C (p.N1929H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000718708" "0" "90" "2" "26644264" "26644264" "subst" "0.000385956" "01943" "CCDC164_000010" "g.26644264C>T" "" "" "" "DRC1(NM_145038.4):c.352C>T (p.Q118*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000718709" "0" "50" "2" "26676248" "26676248" "subst" "0.000549726" "01943" "CCDC164_000006" "g.26676248T>A" "" "" "" "DRC1(NM_145038.2):c.1750T>A (p.(Ser584Thr)), DRC1(NM_145038.4):c.1750T>A (p.S584T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000718710" "0" "30" "2" "26684574" "26684574" "subst" "8.53957E-5" "01943" "CCDC164_000011" "g.26684574G>A" "" "" "" "OTOF(NM_194248.2):c.5523C>T (p.D1841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000800544" "0" "30" "2" "26624883" "26624883" "subst" "0.0003372" "01943" "CCDC164_000012" "g.26624883C>T" "" "" "" "DRC1(NM_145038.4):c.26C>T (p.A9V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000800545" "0" "90" "2" "26667616" "26667616" "subst" "3.69279E-5" "01943" "CCDC164_000013" "g.26667616G>A" "" "" "" "DRC1(NM_145038.4):c.1196G>A (p.W399*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000858470" "0" "30" "2" "26680920" "26680920" "subst" "0" "01943" "CCDC164_000014" "g.26680920G>A" "" "" "" "OTOF(NM_001287489.1):c.5982C>T (p.L1994=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000885107" "0" "90" "2" "26672954" "26672954" "subst" "7.03177E-5" "02327" "CCDC164_000015" "g.26672954G>A" "" "" "" "DRC1(NM_145038.5):c.1599+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000975179" "0" "30" "2" "26654745" "26654745" "subst" "1.62508E-5" "01804" "CCDC164_000016" "g.26654745C>T" "" "" "" "DRC1(NM_145038.5):c.766-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000975180" "0" "50" "2" "26672860" "26672860" "subst" "0" "01804" "CCDC164_000017" "g.26672860C>G" "" "" "" "DRC1(NM_145038.5):c.1510-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975181" "0" "70" "2" "26672954" "26672954" "subst" "7.03177E-5" "01804" "CCDC164_000015" "g.26672954G>A" "" "" "" "DRC1(NM_145038.5):c.1599+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000975182" "0" "50" "2" "26683721" "26683721" "subst" "0.000117799" "02327" "CCDC164_000018" "g.26683721G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000992779" "0" "70" "2" "26624966" "26624966" "dup" "0" "01804" "CCDC164_000019" "g.26624966dup" "" "" "" "DRC1(NM_145038.2):c.109dupC (p.(Gln37fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001027592" "1" "70" "2" "26667151" "26667151" "subst" "4.06121E-6" "00006" "CCDC164_000020" "g.26667151G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.26444283G>A" "" "likely pathogenic (recessive)" ""
"0001027604" "2" "70" "2" "26678016" "26678016" "subst" "0.000125888" "00006" "CCDC164_000021" "g.26678016G>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.26455148G>C" "" "likely pathogenic (recessive)" ""
"0001027682" "0" "50" "2" "26667207" "26667207" "subst" "0" "00006" "CCDC164_000022" "g.26667207G>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.26444339G>C" "" "VUS" ""
"0001033230" "0" "50" "2" "26647252" "26647252" "subst" "6.0983E-5" "01804" "CCDC164_000023" "g.26647252T>G" "" "" "" "DRC1(NM_145038.5):c.470T>G (p.(Leu157Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001033231" "0" "30" "2" "26678108" "26678108" "subst" "8.19498E-5" "01804" "CCDC164_000024" "g.26678108G>A" "" "" "" "DRC1(NM_145038.5):c.2166+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001057975" "1" "70" "2" "26644243" "26644243" "subst" "4.46784E-5" "00006" "CCDC164_000025" "g.26644243G>A" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.26421375G>A" "" "likely pathogenic (!)" ""
"0001063368" "0" "90" "2" "26644264" "26644264" "subst" "0.000385956" "02325" "CCDC164_000010" "g.26644264C>T" "" "" "" "DRC1(NM_145038.4):c.352C>T (p.Q118*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
## 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 CCDC164
## Count = 30
"{{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}}"
"0000339775" "00004574" "10" "6615" "0" "6615" "0" "c.*4392G>A" "r.(=)" "p.(=)" ""
"0000408309" "00004574" "70" "210" "0" "213" "0" "c.210_213del" "r.(?)" "p.(Ser70Argfs*11)" "2"
"0000487480" "00004574" "50" "1580" "0" "1580" "0" "c.1580G>T" "r.(?)" "p.(Arg527Met)" ""
"0000487481" "00004574" "70" "1599" "1" "1599" "1" "c.1599+1G>C" "r.spl" "p.?" ""
"0000515479" "00004574" "30" "1399" "0" "1399" "0" "c.1399G>C" "r.(?)" "p.(Glu467Gln)" ""
"0000515480" "00004574" "30" "1519" "0" "1519" "0" "c.1519A>C" "r.(?)" "p.(Ile507Leu)" ""
"0000515481" "00004574" "30" "1750" "0" "1750" "0" "c.1750T>A" "r.(?)" "p.(Ser584Thr)" ""
"0000515482" "00004574" "50" "6369" "0" "6369" "0" "c.*4146G>A" "r.(=)" "p.(=)" ""
"0000607873" "00004574" "50" "116" "0" "116" "0" "c.116G>C" "r.(?)" "p.(Arg39Pro)" ""
"0000621013" "00004574" "30" "6424" "0" "6424" "0" "c.*4201C>T" "r.(=)" "p.(=)" ""
"0000688724" "00004574" "50" "6381" "0" "6381" "0" "c.*4158T>G" "r.(=)" "p.(=)" ""
"0000718708" "00004574" "90" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Gln118*)" ""
"0000718709" "00004574" "50" "1750" "0" "1750" "0" "c.1750T>A" "r.(?)" "p.(Ser584Thr)" ""
"0000718710" "00004574" "30" "7412" "0" "7412" "0" "c.*5189G>A" "r.(=)" "p.(=)" ""
"0000800544" "00004574" "30" "26" "0" "26" "0" "c.26C>T" "r.(?)" "p.(Ala9Val)" ""
"0000800545" "00004574" "90" "1196" "0" "1196" "0" "c.1196G>A" "r.(?)" "p.(Trp399*)" ""
"0000858470" "00004574" "30" "3758" "0" "3758" "0" "c.*1535G>A" "r.(=)" "p.(=)" ""
"0000885107" "00004574" "90" "1599" "1" "1599" "1" "c.1599+1G>A" "r.spl?" "p.?" ""
"0000975179" "00004574" "30" "766" "-7" "766" "-7" "c.766-7C>T" "r.(=)" "p.(=)" ""
"0000975180" "00004574" "50" "1510" "-4" "1510" "-4" "c.1510-4C>G" "r.spl?" "p.?" ""
"0000975181" "00004574" "70" "1599" "1" "1599" "1" "c.1599+1G>A" "r.spl?" "p.?" ""
"0000975182" "00004574" "50" "6559" "0" "6559" "0" "c.*4336G>A" "r.(=)" "p.(=)" ""
"0000992779" "00004574" "70" "109" "0" "109" "0" "c.109dup" "r.(?)" "p.(Gln37Profs*30)" ""
"0001027592" "00004574" "70" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Glu364Lys)" ""
"0001027604" "00004574" "70" "2081" "0" "2081" "0" "c.2081G>C" "r.(?)" "p.(Arg694Thr)" ""
"0001027682" "00004574" "50" "1146" "0" "1146" "0" "c.1146G>C" "r.(?)" "p.(Glu382Asp)" ""
"0001033230" "00004574" "50" "470" "0" "470" "0" "c.470T>G" "r.(?)" "p.(Leu157Arg)" ""
"0001033231" "00004574" "30" "2166" "7" "2166" "7" "c.2166+7G>A" "r.(=)" "p.(=)" ""
"0001057975" "00004574" "70" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Glu111Lys)" ""
"0001063368" "00004574" "90" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Gln118*)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000184292" "0000408309"
"0000241498" "0000487480"
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