### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZIC1) # 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}}" "ZIC1" "Zic family member 1" "3" "q24" "unknown" "NG_015886.1" "UD_132084402961" "" "http://www.LOVD.nl/ZIC1" "" "1" "12872" "7545" "600470" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ZIC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-09-12 21:06:35" "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}}" "00023183" "ZIC1" "Zic family member 1" "001" "NM_003412.3" "" "NP_003403.2" "" "" "" "-719" "4512" "1344" "147127181" "147134506" "" "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}}" "00896" "DWS" "Dandy-Walker syndrome (DWS)" "" "220200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04327" "CRS" "craniosynostosis (CRS)" "" "" "" "" "" "00006" "2015-09-12 20:59:03" "" "" "04328" "BAIDCS" "structural brain anomalies with impaired intellectual development and craniosynostosis (BAIDCS)" "AD" "618736" "" "" "" "00006" "2015-09-12 21:00:16" "00006" "2021-12-10 21:51:32" "05691" "CRS6" "craniosynostosis, type 6 (CRS6)" "AD" "616602" "" "" "" "00006" "2020-02-08 13:52:53" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ZIC1" "00896" "ZIC1" "04328" "ZIC1" "05691" ## 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}}" "00049839" "" "" "" "5" "" "00006" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "3-generation family, 6 affecteds (2F, 4M)" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00049840" "" "" "" "1" "" "00006" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "" "M" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00049841" "" "" "" "1" "" "00006" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "" "F" "?" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00049842" "" "" "" "1" "" "00006" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00049843" "" "" "" "1" "" "00006" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "" "M" "" "Netherlands" "" "0" "" "" "" "" "00079117" "" "" "" "1" "" "01705" "" "" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "white" "" "00285854" "" "" "" "2" "" "00006" "{PMID:Vandervore 2019:30391508}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "FamPat1" "00285855" "" "" "00285854" "1" "" "00006" "{PMID:Vandervore 2019:30391508}" "younger sister" "F" "no" "Netherlands" "" "0" "" "" "" "FamPat2" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00049839" "04328" "00049840" "04328" "00049841" "04328" "00049842" "04328" "00049843" "04328" "00079117" "04327" "00285854" "04327" "00285855" "04327" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00896, 04327, 04328, 05691 ## Count = 8 "{{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}}" "0000036613" "04328" "00049839" "00006" "Familial, autosomal dominant" "" "brachycephaly, delayed closure, anterior fontanelle, atrophy rostral part cerebellum and pons, no strabismus/ptosis, mild learning disability" "" "" "" "" "" "" "" "" "" "0000036614" "04328" "00049840" "00006" "Isolated (sporadic)" "" "bicoronal synostosis, 3 craniofacial procedures; MRI abnormal configuration ventricules corpus callosum, moderate/severe learning disability, scoliosis, foreskin stricture" "" "" "" "" "" "" "" "" "" "0000036615" "04328" "00049841" "00006" "Isolated (sporadic)" "" "bicoronal synostosis, severe brachycephaly; MRI agenesis corpus callosum, dilated lateral ventricules; divergent strabismus, moderate learning disability, scoliosis" "" "" "" "" "" "" "" "" "" "0000036616" "04328" "00049842" "00006" "Isolated (sporadic)" "" "bicoronal synostosis, severe brachycephaly, bony defect sagittal suture; CT-scan normal brain; mild learning disability, scoliosis" "" "" "" "" "" "" "" "" "" "0000036617" "04328" "00049843" "00006" "Isolated (sporadic)" "" "bicoronal synostosis, partial R lambdoid\r\nsynostosis, bony defect of metopic\r\nand sagittal sutures; MRI mildly enlarged lateral ventricles, shortened corpus callosum, hypoplastic pons, enlarged foramen magnum; strabismus sursoadductorius, moderate-severe learning disability" "" "" "" "" "" "" "" "" "" "0000058844" "04327" "00079117" "01705" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000219686" "04327" "00285854" "00006" "Familial, autosomal dominant" "" "see paper; ..., neonatal microcephaly, agenesis corpus callosum, brachycephaly with reduced volume posterior fossa, cerebellar and pons hypoplasia, scoliosis, tethered cord (closed neural tube defect)" "" "" "" "" "" "" "" "BAIDCS" "craniosynostosis" "0000219687" "04327" "00285855" "00006" "Familial, autosomal dominant" "" "see paper; ..., neonatal microcephaly, agenesis corpus callosum, brachycephaly with reduced volume posterior fossa, cerebellar and pons hypoplasia, scoliosis, tethered cord (closed neural tube defect)" "" "" "" "" "" "" "" "BAIDCS" "craniosynostosis" ## 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}}" "0000049760" "00049839" "1" "00006" "00006" "2015-09-12 21:01:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000049761" "00049840" "1" "00006" "00006" "2015-09-12 21:17:20" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000049762" "00049841" "1" "00006" "00006" "2015-09-12 21:24:22" "" "" "SEQ" "DNA" "" "" "0000049763" "00049842" "1" "00006" "00006" "2015-09-12 21:31:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000049764" "00049843" "1" "00006" "00006" "2015-09-12 21:36:57" "" "" "SEQ" "DNA" "" "" "0000079302" "00079117" "1" "01705" "01705" "2016-08-02 17:29:46" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000287012" "00285854" "1" "00006" "00006" "2020-02-08 14:06:04" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000287013" "00285855" "1" "00006" "00006" "2020-02-08 14:06:20" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000049760" "ZIC1" "0000049761" "ZIC1" "0000049762" "ZIC1" "0000049763" "ZIC1" "0000049764" "ZIC1" "0000287012" "ZIC1" "0000287013" "ZIC1" ## 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}}" "0000078645" "10" "90" "3" "147131192" "147131192" "subst" "0" "00006" "ZIC1_000001" "g.147131192G>C" "" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.147413405G>C" "" "pathogenic" "" "0000078646" "0" "90" "3" "147131157" "147131157" "subst" "0" "00006" "ZIC1_000002" "g.147131157C>A" "" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "" "" "normal mRNA expression" "De novo" "" "" "0" "" "" "g.147413370C>A" "" "pathogenic" "" "0000078647" "0" "90" "3" "147131198" "147131198" "subst" "0" "00006" "ZIC1_000003" "g.147131198G>T" "" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "" "" "" "De novo" "" "" "0" "" "" "g.147413411G>T" "" "pathogenic" "" "0000078648" "0" "90" "3" "147131198" "147131198" "subst" "0" "00006" "ZIC1_000003" "g.147131198G>T" "" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "" "" "" "Unknown" "" "" "0" "" "" "g.147413411G>T" "" "pathogenic" "" "0000078649" "0" "90" "3" "147131159" "147131159" "subst" "0" "00006" "ZIC1_000004" "g.147131159C>T" "" "{PMID:Twigg 2015:26340333}, {DOI:Twigg 2015:10.1016/j.ajhg.2015.07.007}" "" "" "" "Unknown" "" "" "0" "" "" "g.147413372C>T" "" "pathogenic" "" "0000127941" "0" "70" "3" "147130423" "147130423" "subst" "0" "01705" "ZIC1_000005" "g.147130423C>A" "" "" "" "" "no paternal DNA available for analysis" "Unknown" "yes" "" "0" "" "" "g.147412636C>A" "" "likely pathogenic" "" "0000320193" "0" "90" "3" "147131159" "147131159" "subst" "0" "01943" "ZIC1_000004" "g.147131159C>T" "" "" "" "ZIC1(NM_003412.3):c.1165C>T (p.Q389*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147413372C>T" "" "pathogenic" "" "0000320194" "0" "50" "3" "147131192" "147131192" "subst" "0" "01943" "ZIC1_000001" "g.147131192G>C" "" "" "" "ZIC1(NM_003412.3):c.1198G>C (p.G400R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147413405G>C" "" "VUS" "" "0000320195" "0" "50" "3" "147128227" "147128227" "subst" "0.00040392" "01943" "ZIC1_000006" "g.147128227G>C" "" "" "" "ZIC1(NM_003412.3):c.328G>C (p.A110P), ZIC1(NM_003412.4):c.328G>C (p.A110P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147410440G>C" "" "VUS" "" "0000320196" "0" "30" "3" "147128844" "147128844" "subst" "0.00136606" "01943" "ZIC1_000007" "g.147128844C>T" "" "" "" "ZIC1(NM_003412.3):c.945C>T (p.R315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147411057C>T" "" "likely benign" "" "0000346310" "0" "50" "3" "147128159" "147128159" "subst" "0" "02327" "ZIC1_000008" "g.147128159G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147410372G>A" "" "VUS" "" "0000348300" "0" "50" "3" "147128594" "147128594" "subst" "0" "02327" "ZIC1_000009" "g.147128594C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147410807C>A" "" "VUS" "" "0000518229" "0" "50" "3" "147130430" "147130430" "subst" "8.12255E-6" "01943" "ZIC1_000011" "g.147130430T>G" "" "" "" "ZIC1(NM_003412.3):c.1108T>G (p.S370A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147412643T>G" "" "VUS" "" "0000518230" "0" "10" "3" "147131269" "147131269" "subst" "0.00233491" "02325" "ZIC1_000012" "g.147131269C>G" "" "" "" "ZIC1(NM_003412.4):c.1275C>G (p.S425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147413482C>G" "" "benign" "" "0000518231" "0" "30" "3" "147131308" "147131308" "subst" "4.06144E-6" "01943" "ZIC1_000013" "g.147131308C>G" "" "" "" "ZIC1(NM_003412.3):c.1314C>G (p.L438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147413521C>G" "" "likely benign" "" "0000608375" "0" "50" "3" "147127924" "147127924" "subst" "0" "01943" "ZIC1_000014" "g.147127924T>C" "" "" "" "ZIC1(NM_003412.3):c.25T>C (p.Y9H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147410137T>C" "" "VUS" "" "0000642747" "0" "90" "3" "147131208" "147131209" "ins" "0" "00006" "ZIC1_000015" "g.147131208_147131209insCACCATCGTG" "" "{PMID:Vandervore 2019:30391508}" "" "" "germline mosaicism in parent" "De novo" "yes" "" "0" "" "" "g.147413421_147413422insCACCATCGTG" "" "pathogenic (dominant)" "" "0000642748" "0" "90" "3" "147131208" "147131209" "ins" "0" "00006" "ZIC1_000015" "g.147131208_147131209insCACCATCGTG" "" "{PMID:Vandervore 2019:30391508}" "" "" "germline mosaicism in parent" "De novo" "" "" "0" "" "" "g.147413421_147413422insCACCATCGTG" "" "pathogenic (dominant)" "" "0000688968" "0" "30" "3" "147128352" "147128352" "subst" "0.00157557" "01943" "ZIC1_000016" "g.147128352C>G" "" "" "" "ZIC1(NM_003412.3):c.453C>G (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801039" "0" "30" "3" "147128304" "147128304" "subst" "0.000339665" "01943" "ZIC1_000017" "g.147128304G>A" "" "" "" "ZIC1(NM_003412.3):c.405G>A (p.T135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801040" "0" "30" "3" "147128364" "147128364" "subst" "7.11672E-5" "01943" "ZIC1_000018" "g.147128364G>T" "" "" "" "ZIC1(NM_003412.3):c.465G>T (p.S155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801041" "0" "30" "3" "147128583" "147128583" "subst" "4.06124E-6" "01943" "ZIC1_000019" "g.147128583G>A" "" "" "" "ZIC1(NM_003412.3):c.684G>A (p.K228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801042" "0" "50" "3" "147131187" "147131187" "subst" "0" "01943" "ZIC1_000020" "g.147131187G>T" "" "" "" "ZIC1(NM_003412.3):c.1193G>T (p.S398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801043" "0" "50" "3" "147131211" "147131211" "subst" "0" "01943" "ZIC1_000021" "g.147131211C>T" "" "" "" "ZIC1(NM_003412.3):c.1217C>T (p.P406L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911844" "0" "30" "3" "147128227" "147128227" "subst" "0.00040392" "02325" "ZIC1_000006" "g.147128227G>C" "" "" "" "ZIC1(NM_003412.3):c.328G>C (p.A110P), ZIC1(NM_003412.4):c.328G>C (p.A110P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993359" "0" "50" "3" "147131276" "147131276" "subst" "0" "01804" "ZIC1_000022" "g.147131276G>A" "" "" "" "ZIC1(NM_003412.3):c.1282G>A (p.(Ala428Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033751" "0" "50" "3" "147131273" "147131275" "dup" "0" "01804" "ZIC1_000023" "g.147131273_147131275dup" "" "" "" "ZIC1(NM_003412.4):c.1279_1281dup (p.(Ser427dup))" "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 ZIC1 ## 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}}" "0000078645" "00023183" "90" "1198" "0" "1198" "0" "c.1198G>C" "r.(?)" "p.(Gly400Arg)" "3" "0000078646" "00023183" "90" "1163" "0" "1163" "0" "c.1163C>A" "r.1163c>a" "p.Ser388*" "3" "0000078647" "00023183" "90" "1204" "0" "1204" "0" "c.1204G>T" "r.(?)" "p.(Glu402*)" "3" "0000078648" "00023183" "90" "1204" "0" "1204" "0" "c.1204G>T" "r.(?)" "p.(Glu402*)" "3" "0000078649" "00023183" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Gln389*)" "3" "0000127941" "00023183" "70" "1101" "0" "1101" "0" "c.1101C>A" "r.(?)" "p.(Cys367*)" "2" "0000320193" "00023183" "90" "1165" "0" "1165" "0" "c.1165C>T" "r.(?)" "p.(Gln389Ter)" "" "0000320194" "00023183" "50" "1198" "0" "1198" "0" "c.1198G>C" "r.(?)" "p.(Gly400Arg)" "" "0000320195" "00023183" "50" "328" "0" "328" "0" "c.328G>C" "r.(?)" "p.(Ala110Pro)" "" "0000320196" "00023183" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(Arg315=)" "" "0000346310" "00023183" "50" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Gly87Asp)" "" "0000348300" "00023183" "50" "695" "0" "695" "0" "c.695C>A" "r.(?)" "p.(Pro232His)" "" "0000518229" "00023183" "50" "1108" "0" "1108" "0" "c.1108T>G" "r.(?)" "p.(Ser370Ala)" "" "0000518230" "00023183" "10" "1275" "0" "1275" "0" "c.1275C>G" "r.(?)" "p.(Ser425=)" "" "0000518231" "00023183" "30" "1314" "0" "1314" "0" "c.1314C>G" "r.(?)" "p.(Leu438=)" "" "0000608375" "00023183" "50" "25" "0" "25" "0" "c.25T>C" "r.(?)" "p.(Tyr9His)" "" "0000642747" "00023183" "90" "1214" "0" "1215" "0" "c.1214_1215insCACCATCGTG" "r.1214_1215insCACCATCGTG" "p.Pro406Thrfs*41" "" "0000642748" "00023183" "90" "1214" "0" "1215" "0" "c.1214_1215insCACCATCGTG" "r.(1214_1215insCACCATCGTG)" "p.(Pro406Thrfs*41)" "" "0000688968" "00023183" "30" "453" "0" "453" "0" "c.453C>G" "r.(?)" "p.(Ala151=)" "" "0000801039" "00023183" "30" "405" "0" "405" "0" "c.405G>A" "r.(?)" "p.(Thr135=)" "" "0000801040" "00023183" "30" "465" "0" "465" "0" "c.465G>T" "r.(?)" "p.(Ser155=)" "" "0000801041" "00023183" "30" "684" "0" "684" "0" "c.684G>A" "r.(?)" "p.(Lys228=)" "" "0000801042" "00023183" "50" "1193" "0" "1193" "0" "c.1193G>T" "r.(?)" "p.(Ser398Ile)" "" "0000801043" "00023183" "50" "1217" "0" "1217" "0" "c.1217C>T" "r.(?)" "p.(Pro406Leu)" "" "0000911844" "00023183" "30" "328" "0" "328" "0" "c.328G>C" "r.(?)" "p.(Ala110Pro)" "" "0000993359" "00023183" "50" "1282" "0" "1282" "0" "c.1282G>A" "r.(?)" "p.(Ala428Thr)" "" "0001033751" "00023183" "50" "1279" "0" "1281" "0" "c.1279_1281dup" "r.(?)" "p.(Ser427dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000049760" "0000078645" "0000049761" "0000078646" "0000049762" "0000078647" "0000049763" "0000078648" "0000049764" "0000078649" "0000079302" "0000127941" "0000287012" "0000642747" "0000287013" "0000642748"