### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EOGT) # 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}}" "EOGT" "EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase" "3" "p14.1" "no" "NC_000003.11" "UD_137025919136" "" "http://www.LOVD.nl/EOGT" "" "1" "28526" "285203" "614789" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/EOGT_codingDNA.html" "1" "" "" "-1" "" "-1" "00006" "2013-05-01 00:00:00" "00006" "2015-02-08 10:24:16" "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}}" "00023821" "EOGT" "EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase" "001" "NM_173654.1" "" "NP_775925.1" "" "" "" "-405" "3733" "1332" "69062774" "69024368" "00001" "2013-06-03 13:34:29" "" "" ## 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" "03891" "AOS4" "Adams-Oliver syndrome, type 4 (AOS-4)" "AR" "615297" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04179" "AOS" "Adams-Oliver syndrome (AOS)" "" "" "" "" "" "00006" "2015-02-07 15:59:17" "00006" "2015-03-13 12:45:54" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EOGT" "03891" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00001231" "" "" "" "1" "" "00083" "" "" "M" "yes" "(Israel)" "" "0" "" "" "Bedouin" "" "00001232" "" "" "" "1" "" "00083" "" "" "M" "yes" "(Israel)" "" "0" "" "" "Bedouin" "" "00029791" "" "" "" "2" "" "00006" "{PMID:Shaheen 2013:23522784}, {DOI:Shaheen 2013:10.1016/j.ajhg.2013.02.012}" "4-generation family, 2 affected nephews, unaffected carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00029792" "" "" "" "4" "" "00006" "{PMID:Shaheen 2013:23522784}, {DOI:Shaheen 2013:10.1016/j.ajhg.2013.02.012}" "5-generation family, 4 affecteds (3F, 1M), unaffected carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00032397" "" "" "" "2" "" "00006" "{PMID:Shaheen 2013:23522784}, {DOI:Shaheen 2013:10.1016/j.ajhg.2013.02.012}" "4-generation family, 2 affecteds, unaffected heterozygus carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "Arab" "" "00293464" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331424" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "12DG2152" "00331425" "" "" "" "3" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 3 affected (2F, M)" "F;M" "yes" "" "" "0" "" "" "Arab" "12DG2526, 12DG2529, 12DG2530" "00331426" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "yes" "" "" "0" "" "" "Arab" "13DG1066, 13DG1067" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00001231" "03891" "00001232" "03891" "00029791" "04179" "00029792" "04179" "00032397" "04179" "00293464" "00198" "00331424" "05517" "00331425" "05517" "00331426" "05517" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03891, 04179, 05517 ## Count = 9 "{{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}}" "0000025692" "03891" "00001231" "00083" "Familial, autosomal recessive" "" "Aplasia Cutis congenita, Dilated scalp veins, Bilateral simple incomplete feet syndactyly of toes 2-3-4" "" "" "" "" "" "" "" "" "" "" "" "0000025693" "03891" "00001232" "00083" "Familial, autosomal recessive" "" "Aplasia Cutis congenita, Dilated scalp veins, Long term residual skull-bone defect. No terminal transverse limb defects observed." "" "" "" "" "" "" "" "" "" "" "" "0000025694" "03891" "00001232" "00083" "Familial, autosomal recessive" "" "Aplasia Cutis congenita, Dilated scalp veins, Bilateral simple incomplete feet syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000025756" "04179" "00029791" "00006" "Familial, autosomal recessive" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000025757" "04179" "00029792" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000025874" "04179" "00032397" "00006" "Familial, autosomal recessive" "" "see paper; .." "" "" "" "" "" "" "" "" "" "" "" "0000249616" "05517" "00331424" "00000" "Familial, autosomal recessive" "" "Aplasia cutis congenita, Umbilical hernia, Delayed speech and language development, DelaYes" "" "" "" "" "" "" "" "" "Brachydactylies (with extraskeletal manifestations)" "skeletal dysplasia" "" "0000249617" "05517" "00331425" "00000" "Familial, autosomal recessive" "" "Absent distal phalanges, Aplasia of the middle phalanx of the 4th toe, Absent middle phal Yes" "" "" "" "" "" "" "" "" "Brachydactylies (with extraskeletal manifestations)" "skeletal dysplasia" "" "0000249618" "05517" "00331426" "00000" "Familial, autosomal recessive" "" "Brachydactyly, Umbilical hernia, Delayed speech and language development, Delayed fine Yes" "" "" "" "" "" "" "" "" "Brachydactylies (with extraskeletal manifestations)" "skeletal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000998" "00001231" "1" "00083" "00083" "2013-05-28 23:38:55" "" "" "SEQ" "DNA" "" "" "0000000999" "00001232" "1" "00083" "00083" "2013-05-29 00:13:13" "" "" "PCRdig" "DNA" "" "" "0000029834" "00029791" "1" "00006" "00006" "2015-02-08 10:38:07" "" "" "SEQ" "DNA" "" "" "0000029835" "00029792" "1" "00006" "00006" "2015-02-08 10:58:20" "" "" "SEQ" "DNA" "" "" "0000032465" "00032397" "1" "00006" "00006" "2015-02-20 16:23:28" "" "" "SEQ" "DNA" "" "" "0000294632" "00293464" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332643" "00331424" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332644" "00331425" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332645" "00331426" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000000998" "EOGT" "0000000999" "EOGT" "0000029834" "DOCK6" "0000029834" "EOGT" "0000029835" "DOCK6" "0000029835" "EOGT" "0000032465" "EOGT" "0000332643" "EOGT" "0000332644" "EOGT" "0000332645" "EOGT" ## 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 = 27 "{{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}}" "0000018073" "3" "75" "3" "69037456" "69037456" "del" "0" "00083" "EOGT_000001" "g.69037456del" "" "" "" "1074delA" "The c.1074delA variant corresponds to a predicted splice variant (ENST00000383701.3) which has no representation in RefSeq" "Germline" "yes" "" "0" "" "" "g.68988305del" "" "likely pathogenic" "" "0000018074" "3" "75" "3" "69037456" "69037456" "del" "0" "00083" "EOGT_000001" "g.69037456del" "" "" "" "1074delA" "" "Germline" "yes" "" "0" "" "" "g.68988305del" "" "likely pathogenic" "" "0000055926" "3" "70" "3" "69028827" "69028827" "del" "0" "00006" "EOGT_000003" "g.69028827del" "" "{PMID:Shaheen 2013:23522784}, {DOI:Shaheen 2013:10.1016/j.ajhg.2013.02.012}, {OMIM614789:0002}" "" "" "not in 460 control chromosomes" "Germline" "yes" "rs587776994" "0" "" "" "g.68979676del" "" "likely pathogenic" "" "0000055927" "3" "70" "3" "69027539" "69027539" "subst" "0" "00006" "EOGT_000004" "g.69027539C>T" "" "{PMID:Shaheen 2013:23522784}, {DOI:Shaheen 2013:10.1016/j.ajhg.2013.02.012}, {OMIM614789:0003}" "" "Arg377Gln" "not in 460 control chromosomes" "Germline" "yes" "rs587776995" "0" "" "" "g.68978388C>T" "" "likely pathogenic" "" "0000058625" "3" "70" "3" "69053529" "69053529" "subst" "0" "00006" "EOGT_000002" "g.69053529C>G" "" "{PMID:Shaheen 2013:23522784}, {DOI:Shaheen 2013:10.1016/j.ajhg.2013.02.012}, {OMIM614789:0001}" "" "" "not in 460 control chromosomes" "Germline" "yes" "rs587776993" "0" "" "" "g.69004378C>G" "" "likely pathogenic" "" "0000329504" "0" "30" "3" "69058843" "69058843" "subst" "0.000129947" "01804" "EOGT_000005" "g.69058843T>C" "" "" "" "EOGT(NM_001278689.1):c.155A>G (p.(His52Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.69009692T>C" "" "likely benign" "" "0000520601" "0" "30" "3" "69028848" "69028848" "subst" "0.00427837" "01943" "EOGT_000006" "g.69028848G>A" "" "" "" "EOGT(NM_001278689.1):c.1305C>T (p.F435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68979697G>A" "" "likely benign" "" "0000520607" "0" "50" "3" "69037662" "69037662" "subst" "7.57404E-6" "01804" "EOGT_000012" "g.69037662G>A" "" "" "" "EOGT(NM_001278689.1):c.991C>T (p.(Pro331Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68988511G>A" "" "VUS" "" "0000520610" "0" "30" "3" "69047272" "69047272" "subst" "0.000137807" "01804" "EOGT_000015" "g.69047272T>G" "" "" "" "EOGT(NM_001278689.1):c.728-7A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68998121T>G" "" "likely benign" "" "0000520616" "0" "30" "3" "69058927" "69058927" "subst" "0.00333412" "01943" "EOGT_000021" "g.69058927G>C" "" "" "" "EOGT(NM_001278689.1):c.71C>G (p.P24R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69009776G>C" "" "likely benign" "" "0000651321" "1" "30" "3" "69053587" "69053587" "subst" "0.00224186" "03575" "EOGT_000022" "g.69053587T>A" "14/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs116711473}" "Germline" "" "rs116711473" "0" "" "" "g.69004436T>A" "" "likely benign" "" "0000655014" "0" "30" "3" "69054335" "69054335" "subst" "0.000195644" "01943" "EOGT_000023" "g.69054335G>A" "" "" "" "EOGT(NM_001278689.1):c.471C>T (p.T157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.69005184G>A" "" "likely benign" "" "0000689144" "0" "30" "3" "69031963" "69031963" "subst" "0.0355202" "01804" "EOGT_000024" "g.69031963T>C" "" "" "" "EOGT(NM_001278689.1):c.1213A>G (p.(Arg405Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719601" "0" "30" "3" "69038112" "69038112" "subst" "0.000222933" "01943" "EOGT_000025" "g.69038112A>G" "" "" "" "EOGT(NM_001278689.1):c.888T>C (p.Y296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719602" "0" "90" "3" "69058919" "69058922" "del" "0" "01943" "EOGT_000026" "g.69058919_69058922del" "" "" "" "EOGT(NM_001278689.1):c.78_81delTCAC (p.H27Afs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729925" "3" "90" "3" "69028827" "69028827" "del" "0" "00000" "EOGT_000003" "g.69028827del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_173654.2:c.1074delA:p.(Phe359Leufs*13)" "" "Germline" "" "" "0" "" "" "g.68979676del" "" "pathogenic (recessive)" "" "0000729926" "3" "90" "3" "69027539" "69027539" "subst" "0" "00000" "EOGT_000004" "g.69027539C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_173654.2:c.1130G>A:p.(Arg377Lys)" "" "Germline" "" "" "0" "" "" "g.68978388C>T" "" "likely pathogenic (recessive)" "" "0000729927" "3" "90" "3" "69028827" "69028827" "del" "0" "00000" "EOGT_000003" "g.69028827del" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_173654.2:c.1074delA:p.(Phe359Leufs*13)" "" "Germline" "" "" "0" "" "" "g.68979676del" "" "pathogenic (recessive)" "" "0000885974" "0" "50" "3" "69037713" "69037713" "subst" "0" "01804" "EOGT_000027" "g.69037713C>T" "" "" "" "EOGT(NM_001278689.1):c.940G>A (p.(Ala314Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885975" "0" "10" "3" "69038088" "69038088" "subst" "0.186178" "02326" "EOGT_000028" "g.69038088A>G" "" "" "" "EOGT(NM_001278689.2):c.912T>C (p.Y304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928823" "0" "50" "3" "69031965" "69031965" "subst" "0" "02326" "EOGT_000029" "g.69031965T>C" "" "" "" "EOGT(NM_001278689.2):c.1211A>G (p.Y404C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962872" "0" "30" "3" "69026294" "69026294" "subst" "0" "01804" "EOGT_000030" "g.69026294G>A" "" "" "" "EOGT(NM_001278689.1):c.*475C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975980" "0" "30" "3" "69057590" "69057590" "subst" "0.000138107" "01804" "EOGT_000031" "g.69057590G>A" "" "" "" "EOGT(NM_001278689.2):c.300C>T (p.(Val100=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993882" "0" "50" "3" "69027513" "69027513" "subst" "2.04618E-5" "01804" "EOGT_000032" "g.69027513G>A" "" "" "" "EOGT(NM_001278689.1):c.1408C>T (p.(Arg470Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993883" "0" "50" "3" "69037462" "69037462" "subst" "1.51789E-5" "01804" "EOGT_000033" "g.69037462G>A" "" "" "" "EOGT(NM_001278689.1):c.1067C>T (p.(Thr356Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034161" "0" "30" "3" "69050874" "69050874" "subst" "0" "01804" "EOGT_000034" "g.69050874A>G" "" "" "" "EOGT(NM_001278689.2):c.621-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051396" "0" "50" "3" "69050750" "69050753" "del" "0" "01804" "EOGT_000035" "g.69050750_69050753del" "" "" "" "EOGT(NM_001278689.2):c.727+8_727+11del" "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 EOGT ## Count = 27 "{{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}}" "0000018073" "00023821" "75" "832" "-791" "832" "-791" "c.832-791del" "r.(=)" "p.(=)" "10i" "0000018074" "00023821" "75" "832" "-791" "832" "-791" "c.832-791del" "r.(=)" "p.(=)" "10i" "0000055926" "00023821" "70" "1074" "0" "1074" "0" "c.1074del" "r.(?)" "p.(Phe359Leufs*13)" "13" "0000055927" "00023821" "70" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Lys)" "14" "0000058625" "00023821" "70" "620" "0" "620" "0" "c.620G>C" "r.(?)" "p.(Trp207Ser)" "8" "0000329504" "00023821" "30" "155" "0" "155" "0" "c.155A>G" "r.(?)" "p.(His52Arg)" "" "0000520601" "00023821" "30" "1053" "0" "1053" "0" "c.1053C>T" "r.(?)" "p.(Phe351=)" "" "0000520607" "00023821" "50" "832" "-998" "832" "-998" "c.832-998C>T" "r.(=)" "p.(=)" "" "0000520610" "00023821" "30" "728" "-7" "728" "-7" "c.728-7A>C" "r.(=)" "p.(=)" "" "0000520616" "00023821" "30" "71" "0" "71" "0" "c.71C>G" "r.(?)" "p.(Pro24Arg)" "" "0000651321" "00023821" "30" "562" "0" "562" "0" "c.562A>T" "r.(?)" "p.(Lys188*)" "" "0000655014" "00023821" "30" "471" "0" "471" "0" "c.471C>T" "r.(?)" "p.(Thr157=)" "" "0000689144" "00023821" "30" "961" "0" "961" "0" "c.961A>G" "r.(?)" "p.(Arg321Gly)" "" "0000719601" "00023821" "30" "832" "-1448" "832" "-1448" "c.832-1448T>C" "r.(=)" "p.(=)" "" "0000719602" "00023821" "90" "78" "0" "81" "0" "c.78_81del" "r.(?)" "p.(His27Alafs*46)" "" "0000729925" "00023821" "90" "1074" "0" "1074" "0" "c.1074del" "r.(?)" "p.(Phe359Leufs*13)" "" "0000729926" "00023821" "90" "1130" "0" "1130" "0" "c.1130G>A" "r.(?)" "p.(Arg377Lys)" "" "0000729927" "00023821" "90" "1074" "0" "1074" "0" "c.1074del" "r.(?)" "p.(Phe359Leufs*13)" "" "0000885974" "00023821" "50" "832" "-1049" "832" "-1049" "c.832-1049G>A" "r.(=)" "p.(=)" "" "0000885975" "00023821" "10" "832" "-1424" "832" "-1424" "c.832-1424T>C" "r.(=)" "p.(=)" "" "0000928823" "00023821" "50" "959" "0" "959" "0" "c.959A>G" "r.(?)" "p.(Tyr320Cys)" "" "0000962872" "00023821" "30" "1807" "0" "1807" "0" "c.*475C>T" "r.(=)" "p.(=)" "" "0000975980" "00023821" "30" "300" "0" "300" "0" "c.300C>T" "r.(?)" "p.(=)" "" "0000993882" "00023821" "50" "1156" "0" "1156" "0" "c.1156C>T" "r.(?)" "p.(Arg386Trp)" "" "0000993883" "00023821" "50" "832" "-798" "832" "-798" "c.832-798C>T" "r.(=)" "p.(=)" "" "0001034161" "00023821" "30" "621" "-9" "621" "-9" "c.621-9T>C" "r.(=)" "p.(=)" "" "0001051396" "00023821" "50" "727" "8" "727" "11" "c.727+8_727+11del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000000998" "0000018073" "0000000999" "0000018074" "0000029834" "0000055926" "0000029835" "0000055927" "0000032465" "0000058625" "0000294632" "0000651321" "0000332643" "0000729925" "0000332644" "0000729926" "0000332645" "0000729927"