### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DOLK) # 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}}" "DOLK" "dolichol kinase" "9" "q34.13" "unknown" "NG_017009.1" "UD_132085237737" "" "http://www.LOVD.nl/DOLK" "Congenital Disorder of Glycosylation pages " "1" "23406" "22845" "610746" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/DOLK_codingDNA.html" "1" "" "\"EuroglycanetCongenital Disorders of Glycosylation (CDG)
Some variants in this database are copied from the CDG database at the Euroglycanet site." "-1" "" "-1" "00001" "2010-04-29 00:00:00" "00006" "2015-03-20 18:47:58" "00000" "2025-11-01 13:22:20" ## 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}}" "00006632" "DOLK" "dolichol kinase" "001" "NM_014908.3" "" "NP_055723.1" "" "" "" "-430" "1774" "1617" "131710012" "131707809" "" "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}}" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02980" "CDG1M" "glycosylation, congenital disorder of, type Im (CDG-1M)" "AR" "610768" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DOLK" "02980" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00064762" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y08m" "0" "" "" "Europe" "SIDS007" "00320305" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "" "" "Australia" "" "0" "" "" "" "CCM1" "00453027" "" "" "" "2" "" "03566" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "2-generation family, affected brother/sister, heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "Fam4" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00064762" "02087" "00320305" "04172" "00453027" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 02087, 02980, 04172, 05611 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000050921" "02087" "00064762" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "0000242333" "04172" "00320305" "00006" "Unknown" "" "survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "cardiomyopathy" "0000341672" "05611" "00453027" "03566" "Familial, autosomal recessive" "" "delayed developmental milestones, delayed psychomotor development, delayed speech" "" "" "" "" "" "" "" "CDG1M" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000064903" "00064762" "1" "01602" "01602" "2016-05-11 14:59:51" "01602" "2016-05-19 13:27:09" "SEQ-NG-I" "DNA" "" "" "0000321491" "00320305" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000454638" "00453027" "1" "03566" "00006" "2024-08-15 18:41:07" "" "" "SEQ-NG;SEQ" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000321491" "DOLK" ## 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 = 32 "{{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}}" "0000096558" "0" "50" "9" "131708259" "131708259" "subst" "0.000199024" "01602" "DOLK_000001" "g.131708259C>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs143641133" "0" "" "" "g.128945980C>T" "" "VUS" "" "0000536454" "0" "50" "9" "131708250" "131708250" "subst" "4.06177E-6" "01804" "DOLK_000002" "g.131708250G>T" "" "" "" "DOLK(NM_014908.4):c.1333C>A (p.(Leu445Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128945971G>T" "" "VUS" "" "0000536455" "0" "30" "9" "131708504" "131708504" "subst" "0.00148325" "01943" "DOLK_000003" "g.131708504T>C" "" "" "" "DOLK(NM_014908.3):c.1079A>G (p.Y360C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128946225T>C" "" "likely benign" "" "0000536456" "0" "30" "9" "131708619" "131708619" "subst" "8.12189E-6" "01804" "DOLK_000004" "g.131708619G>A" "" "" "" "DOLK(NM_014908.3):c.964C>T (p.(Arg322Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128946340G>A" "" "likely benign" "" "0000536459" "0" "50" "9" "131718655" "131718655" "subst" "0" "02325" "DOLK_000007" "g.131718655C>G" "" "" "" "NUP188(NM_015354.3):c.188C>G (p.A63G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128956376C>G" "" "VUS" "" "0000536460" "0" "50" "9" "131742952" "131742952" "subst" "0.000182737" "01943" "DOLK_000008" "g.131742952C>G" "" "" "" "NUP188(NM_015354.2):c.1337C>G (p.P446R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128980673C>G" "" "VUS" "" "0000536461" "0" "50" "9" "131743657" "131743657" "subst" "0.000171264" "02325" "DOLK_000009" "g.131743657C>T" "" "" "" "NUP188(NM_015354.3):c.1504C>T (p.L502F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128981378C>T" "" "VUS" "" "0000536463" "0" "50" "9" "131762055" "131762055" "subst" "4.06296E-6" "02325" "DOLK_000010" "g.131762055C>T" "" "" "" "NUP188(NM_015354.3):c.3814C>T (p.R1272W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128999776C>T" "" "VUS" "" "0000536466" "0" "30" "9" "131765218" "131765218" "subst" "0.000109689" "01943" "DOLK_000011" "g.131765218G>A" "" "" "" "NUP188(NM_015354.2):c.4260G>A (p.L1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129002939G>A" "" "likely benign" "" "0000536467" "0" "30" "9" "131767814" "131767814" "subst" "0" "01804" "DOLK_000012" "g.131767814T>G" "" "" "" "NUP188(NM_015354.1):c.4737+5T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.129005535T>G" "" "likely benign" "" "0000611888" "0" "50" "9" "131708583" "131708583" "subst" "4.87282E-5" "02327" "DOLK_000013" "g.131708583T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128946304T>A" "" "VUS" "" "0000611889" "0" "10" "9" "131709397" "131709397" "subst" "0.00347115" "02327" "DOLK_000014" "g.131709397C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128947118C>T" "" "benign" "" "0000611890" "0" "10" "9" "131709582" "131709582" "dup" "0" "02327" "DOLK_000006" "g.131709582dup" "" "" "" "DOLK(NM_014908.3):c.1dupA (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128947303dup" "" "benign" "" "0000622175" "0" "30" "9" "131709424" "131709424" "subst" "0.000142367" "01943" "DOLK_000015" "g.131709424G>C" "" "" "" "DOLK(NM_014908.3):c.159C>G (p.A53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128947145G>C" "" "likely benign" "" "0000622176" "0" "50" "9" "131757190" "131757190" "subst" "0" "02325" "DOLK_000016" "g.131757190A>G" "" "" "" "NUP188(NM_015354.3):c.3143A>G (p.Y1048C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.128994911A>G" "" "VUS" "" "0000704349" "0" "50" "9" "131709419" "131709419" "subst" "2.43978E-5" "00006" "DOLK_000017" "g.131709419T>C" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.128947140T>C" "" "VUS" "ACMG" "0000852126" "0" "30" "9" "131708883" "131708883" "subst" "0.00118166" "01943" "DOLK_000018" "g.131708883T>C" "" "" "" "DOLK(NM_014908.3):c.700A>G (p.M234V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852127" "0" "30" "9" "131709582" "131709582" "dup" "0" "02326" "DOLK_000006" "g.131709582dup" "" "" "" "DOLK(NM_014908.3):c.1dupA (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924968" "0" "50" "9" "131719316" "131719316" "subst" "0.00117261" "02325" "DOLK_000019" "g.131719316G>A" "" "" "" "NUP188(NM_015354.3):c.327+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924969" "0" "50" "9" "131763869" "131763869" "subst" "0" "02325" "DOLK_000020" "g.131763869C>T" "" "" "" "NUP188(NM_015354.3):c.3905C>T (p.S1302F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949197" "0" "50" "9" "131760890" "131760890" "subst" "0.000122545" "02325" "DOLK_000021" "g.131760890G>A" "" "" "" "NUP188(NM_015354.3):c.3503G>A (p.R1168Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949198" "0" "50" "9" "131768940" "131768940" "subst" "3.25967E-5" "02325" "DOLK_000022" "g.131768940C>T" "" "" "" "NUP188(NM_015354.3):c.5233C>T (p.R1745W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965196" "0" "50" "9" "131710006" "131710006" "subst" "0.000227224" "02325" "DOLK_000023" "g.131710006C>T" "" "" "" "NUP188(NM_015354.3):c.8C>T (p.A3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000989527" "3" "90" "9" "131709580" "131709580" "subst" "0" "03566" "DOLK_000024" "g.131709580C>T" "" "{DOI:Paracha 2024:10.3389/fmed.2024.1424753}" "" "" "" "Germline" "yes" "" "0" "" "" "g.128947301C>T" "" "pathogenic (recessive)" "" "0000997536" "0" "30" "9" "131721411" "131721411" "subst" "0" "01804" "DOLK_000025" "g.131721411A>C" "" "" "" "NUP188(NM_015354.2):c.583A>C (p.(Met195Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997537" "0" "50" "9" "131763998" "131763998" "subst" "9.00326E-5" "01804" "DOLK_000026" "g.131763998G>A" "" "" "" "NUP188(NM_015354.2):c.4034G>A (p.(Arg1345His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020307" "0" "30" "9" "131708783" "131708783" "subst" "0" "03779" "DOLK_000027" "g.131708783C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely benign" "" "0001037212" "0" "30" "9" "131752515" "131752515" "subst" "0.00151941" "01804" "DOLK_000028" "g.131752515T>C" "" "" "" "NUP188(NM_015354.3):c.2640+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037214" "0" "50" "9" "131768026" "131768026" "subst" "6.10029E-5" "01804" "DOLK_000029" "g.131768026G>A" "" "" "" "NUP188(NM_015354.3):c.4840G>A (p.(Val1614Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053375" "0" "50" "9" "131710002" "131710011" "dup" "0" "01804" "DOLK_000030" "g.131710002_131710011dup" "" "" "" "NUP188(NM_015354.3):c.4_13dup (p.(Ala5Glyfs*13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053376" "0" "50" "9" "131715111" "131715111" "subst" "4.06072E-5" "01804" "DOLK_000031" "g.131715111C>T" "" "" "" "NUP188(NM_015354.3):c.147C>T (p.(Tyr49=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053377" "0" "30" "9" "131761897" "131761897" "subst" "4.06961E-6" "01804" "DOLK_000032" "g.131761897C>G" "" "" "" "NUP188(NM_015354.3):c.3662-6C>G" "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 DOLK ## Count = 32 "{{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}}" "0000096558" "00006632" "50" "1324" "0" "1324" "0" "c.1324G>A" "r.(?)" "p.(Ala442Thr)" "1" "0000536454" "00006632" "50" "1333" "0" "1333" "0" "c.1333C>A" "r.(?)" "p.(Leu445Met)" "" "0000536455" "00006632" "30" "1079" "0" "1079" "0" "c.1079A>G" "r.(?)" "p.(Tyr360Cys)" "" "0000536456" "00006632" "30" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Arg322Trp)" "" "0000536459" "00006632" "50" "-9073" "0" "-9073" "0" "c.-9073G>C" "r.(?)" "p.(=)" "" "0000536460" "00006632" "50" "-33370" "0" "-33370" "0" "c.-33370G>C" "r.(?)" "p.(=)" "" "0000536461" "00006632" "50" "-34075" "0" "-34075" "0" "c.-34075G>A" "r.(?)" "p.(=)" "" "0000536463" "00006632" "50" "-52473" "0" "-52473" "0" "c.-52473G>A" "r.(?)" "p.(=)" "" "0000536466" "00006632" "30" "-55636" "0" "-55636" "0" "c.-55636C>T" "r.(?)" "p.(=)" "" "0000536467" "00006632" "30" "-58232" "0" "-58232" "0" "c.-58232A>C" "r.(?)" "p.(=)" "" "0000611888" "00006632" "50" "1000" "0" "1000" "0" "c.1000A>T" "r.(?)" "p.(Thr334Ser)" "" "0000611889" "00006632" "10" "186" "0" "186" "0" "c.186G>A" "r.(?)" "p.(Arg62=)" "" "0000611890" "00006632" "10" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "" "0000622175" "00006632" "30" "159" "0" "159" "0" "c.159C>G" "r.(?)" "p.(Ala53=)" "" "0000622176" "00006632" "50" "-47608" "0" "-47608" "0" "c.-47608T>C" "r.(?)" "p.(=)" "" "0000704349" "00006632" "50" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(Tyr55Cys)" "" "0000852126" "00006632" "30" "700" "0" "700" "0" "c.700A>G" "r.(?)" "p.(Met234Val)" "" "0000852127" "00006632" "30" "1" "0" "1" "0" "c.1dup" "r.(?)" "p.(Met1?)" "" "0000924968" "00006632" "50" "-9734" "0" "-9734" "0" "c.-9734C>T" "r.(?)" "p.(=)" "" "0000924969" "00006632" "50" "-54287" "0" "-54287" "0" "c.-54287G>A" "r.(?)" "p.(=)" "" "0000949197" "00006632" "50" "-51308" "0" "-51308" "0" "c.-51308C>T" "r.(?)" "p.(=)" "" "0000949198" "00006632" "50" "-59358" "0" "-59358" "0" "c.-59358G>A" "r.(?)" "p.(=)" "" "0000965196" "00006632" "50" "-424" "0" "-424" "0" "c.-424G>A" "r.(?)" "p.(=)" "" "0000989527" "00006632" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000997536" "00006632" "30" "-11829" "0" "-11829" "0" "c.-11829T>G" "r.(?)" "p.(=)" "" "0000997537" "00006632" "50" "-54416" "0" "-54416" "0" "c.-54416C>T" "r.(?)" "p.(=)" "" "0001020307" "00006632" "30" "800" "0" "800" "0" "c.800G>T" "r.(?)" "p.(Ser267Ile)" "" "0001037212" "00006632" "30" "-42933" "0" "-42933" "0" "c.-42933A>G" "r.(?)" "p.(=)" "" "0001037214" "00006632" "50" "-58444" "0" "-58444" "0" "c.-58444C>T" "r.(?)" "p.(=)" "" "0001053375" "00006632" "50" "-428" "0" "-419" "0" "c.-428_-419dup" "r.(?)" "p.(=)" "" "0001053376" "00006632" "50" "-5529" "0" "-5529" "0" "c.-5529G>A" "r.(?)" "p.(=)" "" "0001053377" "00006632" "30" "-52315" "0" "-52315" "0" "c.-52315G>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000064903" "0000096558" "0000321491" "0000704349" "0000454638" "0000989527"