### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DCDC2) # 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}}" "DCDC2" "doublecortin domain containing 2" "6" "p22.1" "unknown" "NG_012829.2" "UD_132119004511" "" "http://www.LOVD.nl/DCDC2" "" "1" "18141" "51473" "605755" "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/DCDC2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-05-27 22:46:06" "00000" "2024-02-26 20:06:56" ## 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}}" "00006152" "DCDC2" "transcript variant 1" "002" "NM_016356.3" "" "NP_057440.2" "" "" "" "-302" "4406" "1431" "24358280" "24171983" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "04189" "NPHPRC" "nephronophthisis-related ciliopathy (NPHP-RC)" "" "" "" "" "" "00006" "2015-02-14 16:29:28" "00006" "2021-12-11 13:56:28" "04437" "DFNB66" "deafness?, autosomal recessive, type 66 (DFNB-66)" "AR" "610212" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "04438" "NPHP19" "nephronophthisis, type 19 (NPHP-19)" "AR" "616217" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05432" "PFIC" "cholestasis, intrahepatic, familial, progressive (PFIC)" "" "" "" "" "" "00006" "2018-05-30 09:45:17" "00006" "2018-05-30 09:54:27" "06700" "NSC" "Sclerosing cholangitis, neonatal" "AR" "617394" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "DCDC2" "04437" "DCDC2" "04438" "DCDC2" "06700" ## 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}}" "00032320" "" "" "" "1" "" "00006" "{PMID:Schueler 2015:25557784}, {DOI:Schueler 2015:10.1016/j.ajhg.2014.12.002}" "patient, unaffected heterozygous carrier parents" "?" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00032321" "" "" "" "1" "" "00006" "{PMID:Schueler 2015:25557784}, {DOI:Schueler 2015:10.1016/j.ajhg.2014.12.002}" "patient, unaffected heterozygous carrier parents" "" "no" "Czech Republic" "" "0" "" "" "" "" "00065307" "" "" "" "1" "" "01615" "" "" "M" "yes" "Morocco" "" "0" "" "" "" "" "00065308" "" "" "" "1" "" "01615" "" "" "F" "yes" "Morocco" "" "0" "" "" "" "" "00275554" "" "" "" "1" "" "01331" "" "" "" "yes" "" "" "0" "" "" "" "" "00283248" "" "" "" "1" "" "00004" "{PMID:Grati 2015:25601850}, {PMID:Tlili 2005:16244493}" "" "" "" "" "" "0" "" "" "" "" "00283249" "" "" "" "1" "" "00004" "{PMID:Schueler 2015:25557784}" "" "" "" "" "" "0" "" "" "" "" "00283250" "" "" "" "1" "" "00004" "{PMID:Schueler 2015:25557784}, {PMID:Schueler 2015:25557784}" "" "" "" "" "" "0" "" "" "" "" "00283251" "" "" "" "1" "" "00004" "{PMID:Schueler 2015:25557784}, {PMID:Schueler 2015:25557784}" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00032320" "04189" "00032321" "04189" "00065307" "00198" "00065308" "00198" "00275554" "05432" "00283248" "05103" "00283249" "00198" "00283250" "00198" "00283251" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04189, 04437, 04438, 05103, 05432, 06700 ## 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}}" "0000025786" "04189" "00032320" "00006" "Isolated (sporadic)" "" "see paper; 11m-hepatic fibrosis; 14y-end-stage renal disease (ESRD) from NPHP; ..." "" "" "" "" "" "" "" "" "" "" "" "0000025787" "04189" "00032321" "00006" "Isolated (sporadic)" "" "see paper; hepatic fibrosis; 2y-liver transplantation; no retinal degeneration, no cerebellar vermis hypoplasia, no hydrocephalus, no obesity, no bone disease" "" "" "" "" "" "" "" "" "" "" "" "0000051422" "00198" "00065307" "01615" "Familial, autosomal recessive" "" "Neonatal Sclerosing cholangitis" "" "00y09m" "" "" "" "" "" "" "" "" "" "0000051423" "00198" "00065308" "01615" "Familial, autosomal recessive" "" "Neonatal Sclerosing cholangitis" "" "00y03m" "" "" "" "" "" "" "" "" "" "0000216674" "00198" "00283249" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis-related ciliopathy" "" "0000216675" "00198" "00283250" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis-related ciliopathy" "" "0000216676" "00198" "00283251" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Nephronophthisis-related ciliopathy" "" "0000218455" "05103" "00283248" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 66" "deafness, autosomal recessive" "" ## 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}}" "0000032387" "00032320" "1" "00006" "00006" "2015-02-14 16:36:07" "00006" "2015-02-14 17:05:21" "arraySNP;SEQ;SEQ-NG" "DNA" "" "" "0000032388" "00032321" "1" "00006" "00006" "2015-02-14 16:43:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000065460" "00065307" "1" "01615" "01615" "2016-05-27 17:17:40" "01615" "2016-05-28 07:19:39" "SEQ-NG" "DNA" "" "" "0000065461" "00065308" "1" "01615" "01615" "2016-05-27 17:29:16" "01615" "2016-05-28 07:54:12" "SEQ-NG" "DNA" "" "" "0000276713" "00275554" "1" "01331" "01331" "2020-01-08 11:13:34" "" "" "SEQ-NG-I" "DNA" "" "" "0000284398" "00283248" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284399" "00283249" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284400" "00283250" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284401" "00283251" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000032387" "BIRC6" "0000032387" "CCDC66" "0000032387" "CLDN16" "0000032387" "DCDC2" "0000032387" "TATDN3" "0000032388" "DCDC2" "0000065460" "DCDC2" "0000065461" "DCDC2" "0000276713" "ABCB11" "0000276713" "ABCB4" "0000276713" "ATP8B1" "0000276713" "DCDC2" "0000284398" "DCDC2" "0000284399" "DCDC2" "0000284400" "DCDC2" "0000284401" "DCDC2" ## 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}}" "0000058464" "3" "90" "6" "24291215" "24291215" "subst" "0" "00006" "DCDC2_000001" "g.24291215T>A" "" "{PMID:Schueler 2015:25557784}, {DOI:Schueler 2015:10.1016/j.ajhg.2014.12.002}" "" "" "homozygosity mapping, exome sequencing" "Germline" "yes" "" "0" "" "" "g.24290987T>A" "" "pathogenic" "" "0000058465" "21" "90" "6" "24357857" "24357858" "del" "0" "00006" "DCDC2_000002" "g.24357857_24357858del" "" "{PMID:Schueler 2015:25557784}, {DOI:Schueler 2015:10.1016/j.ajhg.2014.12.002}" "" "123_124delGT" "" "Germline" "yes" "" "0" "" "" "g.24357629_24357630del" "" "pathogenic" "" "0000058466" "11" "90" "6" "24302274" "24302274" "subst" "2.14223E-5" "00006" "DCDC2_000003" "g.24302274T>C" "" "{PMID:Schueler 2015:25557784}, {DOI:Schueler 2015:10.1016/j.ajhg.2014.12.002}" "" "" "" "Germline" "yes" "" "0" "" "" "g.24302046T>C" "" "pathogenic" "" "0000097158" "3" "70" "6" "24357928" "24357928" "subst" "0" "01615" "DCDC2_000004" "g.24357928C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.24357700C>G" "" "likely pathogenic" "" "0000097159" "3" "70" "6" "24301943" "24302074" "" "0" "01615" "DCDC2_000000" "g.(24291307_24301943)_(24302074_24302195)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000274773" "0" "30" "6" "24357757" "24357757" "subst" "0.000296506" "01943" "DCDC2_000005" "g.24357757G>T" "" "" "" "DCDC2(NM_016356.4):c.222C>A (p.I74=), DCDC2(NM_016356.5):c.222C>A (p.I74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.24357529G>T" "" "likely benign" "" "0000528084" "0" "10" "6" "24174955" "24174955" "subst" "0.830792" "02325" "KAAG1_000001" "g.24174955G>C" "" "" "" "DCDC2(NM_016356.5):c.*3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24174727G>C" "" "benign" "" "0000528085" "0" "30" "6" "24178663" "24178663" "subst" "3.65536E-5" "01943" "KAAG1_000002" "g.24178663G>C" "" "" "" "DCDC2(NM_016356.4):c.1221C>G (p.G407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24178435G>C" "" "likely benign" "" "0000528086" "0" "90" "6" "24205311" "24205311" "del" "0" "02325" "KAAG1_000003" "g.24205311del" "" "" "" "DCDC2(NM_016356.5):c.942delT (p.G315Efs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24205083del" "" "pathogenic" "" "0000528087" "0" "30" "6" "24278344" "24278344" "subst" "0.00089062" "01943" "KAAG1_000004" "g.24278344T>C" "" "" "" "DCDC2(NM_016356.4):c.855A>G (p.S285=), DCDC2(NM_016356.5):c.855A>G (p.S285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24278116T>C" "" "likely benign" "" "0000528088" "0" "50" "6" "24278390" "24278390" "subst" "0" "01804" "KAAG1_000005" "g.24278390G>T" "" "" "" "DCDC2(NM_001195610.1):c.809C>A (p.(Ser270Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24278162G>T" "" "VUS" "" "0000528089" "0" "10" "6" "24291203" "24291203" "subst" "0.65432" "02325" "KAAG1_000006" "g.24291203T>C" "" "" "" "DCDC2(NM_016356.5):c.661A>G (p.S221G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24290975T>C" "" "benign" "" "0000528091" "0" "10" "6" "24302087" "24302087" "subst" "0.995914" "02325" "KAAG1_000008" "g.24302087G>A" "" "" "" "DCDC2(NM_016356.5):c.426-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24301859G>A" "" "benign" "" "0000528092" "0" "50" "6" "24302256" "24302256" "subst" "8.1408E-6" "02325" "KAAG1_000009" "g.24302256T>C" "" "" "" "DCDC2(NM_016356.5):c.365A>G (p.H122R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24302028T>C" "" "VUS" "" "0000528093" "0" "70" "6" "24357928" "24357928" "subst" "0" "02327" "DCDC2_000004" "g.24357928C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24357700C>G" "" "likely pathogenic" "" "0000621679" "0" "30" "6" "24178665" "24178665" "subst" "8.12236E-6" "01943" "KAAG1_000010" "g.24178665C>T" "" "" "" "DCDC2(NM_001195610.1):c.1219G>A (p.(Gly407Ser)), DCDC2(NM_016356.4):c.1219G>A (p.G407S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24178437C>T" "" "likely benign" "" "0000630842" "3" "90" "6" "24353853" "24353853" "subst" "0" "01331" "DCDC2_000005" "g.24353853T>C" "" "" "" "" "" "Germline" "yes" "rs1554121105" "0" "" "" "g.24353625T>C" "502281" "pathogenic (recessive)" "" "0000640140" "1" "99" "6" "24178613" "24178613" "subst" "0" "00004" "DCDC2_000006" "g.24178613T>G" "" "{DB:DVD}, {PMID:Grati 2015:25601850}, {PMID:Tlili 2005:16244493}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24178385T>G" "" "pathogenic" "" "0000640141" "1" "99" "6" "24291215" "24291215" "subst" "0" "00004" "DCDC2_000001" "g.24291215T>A" "" "{DB:DVD}, {PMID:Schueler 2015:25557784}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24290987T>A" "" "pathogenic" "" "0000640142" "1" "99" "6" "24302274" "24302274" "subst" "2.14223E-5" "00004" "DCDC2_000003" "g.24302274T>C" "" "{DB:DVD}, {PMID:Schueler 2015:25557784}, {PMID:Schueler 2015:25557784}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24302046T>C" "" "pathogenic" "" "0000640143" "1" "99" "6" "24357857" "24357858" "del" "0" "00004" "DCDC2_000007" "g.24357857_24357858del" "" "{DB:DVD}, {PMID:Schueler 2015:25557784}, {PMID:Schueler 2015:25557784}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.24357629_24357630del" "" "pathogenic" "" "0000655544" "0" "30" "6" "24178840" "24178840" "subst" "0.00384123" "02326" "KAAG1_000011" "g.24178840G>A" "" "" "" "DCDC2(NM_016356.5):c.1044C>T (p.D348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.24178612G>A" "" "likely benign" "" "0000677702" "0" "50" "6" "24178676" "24178676" "subst" "0.000471093" "01943" "KAAG1_000012" "g.24178676C>T" "" "" "" "DCDC2(NM_016356.4):c.1208G>A (p.R403H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689688" "0" "30" "6" "24278344" "24278344" "subst" "0.00089062" "02326" "KAAG1_000004" "g.24278344T>C" "" "" "" "DCDC2(NM_016356.4):c.855A>G (p.S285=), DCDC2(NM_016356.5):c.855A>G (p.S285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948680" "0" "30" "6" "24178665" "24178665" "subst" "8.12236E-6" "01804" "KAAG1_000010" "g.24178665C>T" "" "" "" "DCDC2(NM_001195610.1):c.1219G>A (p.(Gly407Ser)), DCDC2(NM_016356.4):c.1219G>A (p.G407S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963957" "0" "30" "6" "24357757" "24357757" "subst" "0.000296506" "02326" "DCDC2_000005" "g.24357757G>T" "" "" "" "DCDC2(NM_016356.4):c.222C>A (p.I74=), DCDC2(NM_016356.5):c.222C>A (p.I74=)" "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 DCDC2 ## 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}}" "0000058464" "00006152" "90" "649" "0" "649" "0" "c.649A>T" "r.(?)" "p.(Lys217*)" "5" "0000058465" "00006152" "90" "123" "0" "124" "0" "c.123_124del" "r.(?)" "p.(Ser42Glnfs*72)" "1" "0000058466" "00006152" "90" "349" "-2" "349" "-2" "c.349-2A>G" "r.349_425del" "p.Val117Leufs*54" "2i" "0000097158" "00006152" "70" "51" "0" "51" "0" "c.51G>C" "r.(?)" "p.(Lys17Asn)" "1" "0000097159" "00006152" "70" "426" "-1" "557" "1" "c.(425+1_426-1)_(557+1_558-1)del" "r.(del)" "p.(Phe142_Arg186delinsLeu)" "3i_4i" "0000274773" "00006152" "30" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Ile74=)" "" "0000528084" "00006152" "10" "1434" "0" "1434" "0" "c.*3C>G" "r.(=)" "p.(=)" "" "0000528085" "00006152" "30" "1221" "0" "1221" "0" "c.1221C>G" "r.(?)" "p.(Gly407=)" "" "0000528086" "00006152" "90" "942" "0" "942" "0" "c.942del" "r.(?)" "p.(Gly315GlufsTer32)" "" "0000528087" "00006152" "30" "855" "0" "855" "0" "c.855A>G" "r.(?)" "p.(Ser285=)" "" "0000528088" "00006152" "50" "809" "0" "809" "0" "c.809C>A" "r.(?)" "p.(Ser270Tyr)" "" "0000528089" "00006152" "10" "661" "0" "661" "0" "c.661A>G" "r.(?)" "p.(Ser221Gly)" "" "0000528091" "00006152" "10" "426" "-13" "426" "-13" "c.426-13C>T" "r.(=)" "p.(=)" "" "0000528092" "00006152" "50" "365" "0" "365" "0" "c.365A>G" "r.(?)" "p.(His122Arg)" "" "0000528093" "00006152" "70" "51" "0" "51" "0" "c.51G>C" "r.(?)" "p.(Lys17Asn)" "" "0000621679" "00006152" "30" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Gly407Ser)" "" "0000630842" "00006152" "90" "294" "-2" "294" "-2" "c.294-2A>G" "r.spl" "p.?" "" "0000640140" "00006152" "99" "1271" "0" "1271" "0" "c.1271A>C" "r.(?)" "p.(Gln424Pro)" "9" "0000640141" "00006152" "99" "649" "0" "649" "0" "c.649A>T" "r.(?)" "p.(Lys217*)" "5" "0000640142" "00006152" "99" "349" "-2" "349" "-2" "c.349-2A>G" "r.spl?" "p.?" "2i" "0000640143" "00006152" "99" "121" "0" "122" "0" "c.121_122del" "r.(?)" "p.(Ser42Glnfs*72)" "1" "0000655544" "00006152" "30" "1044" "0" "1044" "0" "c.1044C>T" "r.(?)" "p.(Asp348=)" "" "0000677702" "00006152" "50" "1208" "0" "1208" "0" "c.1208G>A" "r.(?)" "p.(Arg403His)" "" "0000689688" "00006152" "30" "855" "0" "855" "0" "c.855A>G" "r.(?)" "p.(Ser285=)" "" "0000948680" "00006152" "30" "1219" "0" "1219" "0" "c.1219G>A" "r.(?)" "p.(Gly407Ser)" "" "0000963957" "00006152" "30" "222" "0" "222" "0" "c.222C>A" "r.(?)" "p.(Ile74=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000032387" "0000058464" "0000032388" "0000058465" "0000032388" "0000058466" "0000065460" "0000097158" "0000065461" "0000097159" "0000276713" "0000630842" "0000284398" "0000640140" "0000284399" "0000640141" "0000284400" "0000640142" "0000284401" "0000640143"