### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJC3) # 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}}" "DNAJC3" "DnaJ (Hsp40) homolog, subfamily C, member 3" "13" "q32" "unknown" "NC_000013.10" "UD_136086612597" "" "https://www.LOVD.nl/DNAJC3" "" "1" "9439" "5611" "601184" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/DNAJC3_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-02-05 09:21:10" "00000" "2024-08-28 13:16:32" ## 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}}" "00006551" "DNAJC3" "DnaJ (Hsp40) homolog, subfamily C, member 3" "001" "NM_006260.4" "" "NP_006251.1" "" "" "" "-117" "5474" "1515" "96329393" "96447243" "" "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" "04447" "ACPHD" "ataxia?, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD)" "AR" "616192" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "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}}" "DNAJC3" "04447" ## 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}}" "00431246" "" "" "" "3" "" "00006" "{PMID:Synofzik 2014:25466870}, {PMID:Yepez 2022:35379322}" "2-generation family, 2 affected brothers/1 sister, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "Fam1PatII2(61691)" "00431247" "" "" "00431246" "1" "" "00006" "{PMID:Synofzik 2014:25466870}, {PMID:Yepez 2022:35379322}" "sister" "F" "yes" "Turkey" "" "0" "" "" "" "Fam1PatII3(61693)" "00431248" "" "" "00431246" "1" "" "00006" "{PMID:Synofzik 2014:25466870}, {PMID:Yepez 2022:35379322}" "brother" "M" "yes" "Turkey" "" "0" "" "" "" "Fam1PatII4(61695)" "00431249" "" "" "" "2" "" "00006" "{PMID:Synofzik 2014:25466870}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "yes" "Germany" "" "0" "" "" "" "Fam2PatII1(66050)" "00431250" "" "" "00431249" "1" "" "00006" "{PMID:Synofzik 2014:25466870}" "sister" "F" "yes" "Germany" "" "0" "" "" "" "Fam2PatII2(66051)" "00431251" "" "" "" "1" "" "00006" "{PMID:Synofzik 2014:25466870}" "" "" "" "" "" "0" "" "" "" "Fam" "00431252" "" "" "" "1" "" "00006" "{PMID:Synofzik 2014:25466870}" "" "" "" "" "" "0" "" "" "" "Fam" "00431253" "" "" "" "1" "" "00006" "{PMID:Synofzik 2014:25466870}" "" "" "" "" "" "0" "" "" "" "Fam" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00431246" "05611" "00431247" "05611" "00431248" "05611" "00431249" "05611" "00431250" "05611" "00431251" "00198" "00431252" "00198" "00431253" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04447, 05611 ## 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/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000321851" "05611" "00431246" "00006" "Familial, autosomal recessive" "39y" "see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI ((0.05-0.10); 18y-diabetes, insulin treatment; 6y-hypacusis; 6y-gait disturbance; afferent ataxia; no lower-limb areflexia; Babinski sign; motor evoked potential not evoked to all limbs, tibial sensory evoked potential not evoked" "" "" "" "" "" "" "" "" "ACPHD" "diabetes, neurodegeneration" "" "0000321852" "05611" "00431247" "00006" "Familial, autosomal recessive" "34y" "see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI ((<0.03); 18y-diabetes, insulin treatment; 27y-hypacusis; 34y-gait disturbance; afferent ataxia; lower-limb areflexia; no Babinski sign; motor evoked potential not evoked to all limbs, tibial sensory evoked potential not evoked" "" "" "" "" "" "" "" "" "ACPHD" "diabetes, neurodegeneration" "" "0000321853" "05611" "00431248" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., small height (0.25), low weight (0.10), reduced BMI (0.25-0.50); 15y-diabetes, insulin treatment; 24y-hypacusis; 39y-gait disturbance; afferent ataxia; lower-limb areflexia; no Babinski sign; motor evoked potential not evoked to all limbs, tibial sensory evoked potential not evoked" "" "" "" "" "" "" "" "" "ACPHD" "diabetes, neurodegeneration" "" "0000321854" "05611" "00431249" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI (0.25-0.50); 14y-diabetes, insulin treatment; 2y-hypacusis; 2y-gait disturbance; afferent ataxia; lower-limb areflexia; Babinski sign; hearing impairment" "" "" "" "" "" "" "" "" "ACPHD" "diabetes, neurodegeneration" "" "0000321855" "05611" "00431250" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., small height (<0.03), low weight (<0.03), reduced BMI (0.25-0.50); 11y-diabetes, insulin treatment; 11y-gait disturbance; afferent ataxia; no lower-limb areflexia; no Babinski sign; hearing impairment" "" "" "" "" "" "" "" "" "ACPHD" "diabetes, neurodegeneration" "" ## 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}}" "0000432660" "00431246" "1" "00006" "00006" "2023-02-05 09:34:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432661" "00431247" "1" "00006" "00006" "2023-02-05 09:34:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432662" "00431248" "1" "00006" "00006" "2023-02-05 09:34:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432663" "00431249" "1" "00006" "00006" "2023-02-05 09:34:10" "00006" "2023-02-05 09:59:34" "PCR;SEQ;SEQ-NG" "DNA" "" "WES" "0000432664" "00431250" "1" "00006" "00006" "2023-02-05 09:34:10" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432665" "00431251" "1" "00006" "00006" "2023-02-05 14:37:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432666" "00431252" "1" "00006" "00006" "2023-02-05 14:37:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000432667" "00431253" "1" "00006" "00006" "2023-02-05 14:37:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 29 "{{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}}" "0000551122" "0" "30" "13" "96361560" "96361560" "subst" "0.00135833" "01943" "DNAJC3_000001" "g.96361560T>G" "" "" "" "DNAJC3(NM_006260.4):c.162T>G (p.A54=), DNAJC3(NM_006260.5):c.162T>G (p.A54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95709306T>G" "" "likely benign" "" "0000551123" "0" "30" "13" "96375599" "96375599" "subst" "0.000150649" "02330" "DNAJC3_000002" "g.96375599A>G" "" "" "" "DNAJC3(NM_006260.5):c.297A>G (p.Q99=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95723345A>G" "" "likely benign" "" "0000551124" "0" "50" "13" "96377478" "96377478" "subst" "4.7167E-5" "02330" "DNAJC3_000003" "g.96377478A>G" "" "" "" "DNAJC3(NM_006260.5):c.365A>G (p.D122G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95725224A>G" "" "VUS" "" "0000551125" "0" "10" "13" "96413062" "96413062" "subst" "0.00389655" "02330" "DNAJC3_000004" "g.96413062T>C" "" "" "" "DNAJC3(NM_006260.5):c.848+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95760808T>C" "" "benign" "" "0000551126" "0" "50" "13" "96416169" "96416169" "subst" "7.32297E-5" "01943" "DNAJC3_000005" "g.96416169G>A" "" "" "" "DNAJC3(NM_006260.4):c.1037G>A (p.R346Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95763915G>A" "" "VUS" "" "0000551127" "0" "50" "13" "96438294" "96438294" "subst" "0" "02327" "DNAJC3_000006" "g.96438294C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95786040C>T" "" "VUS" "" "0000551128" "0" "30" "13" "96439294" "96439294" "subst" "0.000814004" "02330" "DNAJC3_000007" "g.96439294C>T" "" "" "" "DNAJC3(NM_006260.5):c.1242C>T (p.Y414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95787040C>T" "" "likely benign" "" "0000551129" "0" "30" "13" "96443194" "96443194" "subst" "0.000317966" "02330" "DNAJC3_000008" "g.96443194C>A" "" "" "" "DNAJC3(NM_006260.5):c.1425C>A (p.G475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95790940C>A" "" "likely benign" "" "0000614687" "0" "50" "13" "96375618" "96375618" "subst" "0" "02330" "DNAJC3_000009" "g.96375618G>A" "" "" "" "DNAJC3(NM_006260.5):c.316G>A (p.A106T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.95723364G>A" "" "VUS" "" "0000679851" "0" "50" "13" "96375508" "96375508" "subst" "0.000393179" "01943" "DNAJC3_000010" "g.96375508A>G" "" "" "" "DNAJC3(NM_006260.4):c.206A>G (p.D69G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679852" "0" "50" "13" "96377524" "96377524" "subst" "0" "02330" "DNAJC3_000011" "g.96377524T>G" "" "" "" "DNAJC3(NM_006260.5):c.393+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679853" "0" "30" "13" "96439282" "96439282" "subst" "0" "01943" "DNAJC3_000012" "g.96439282T>C" "" "" "" "DNAJC3(NM_006260.4):c.1230T>C (p.I410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853705" "0" "50" "13" "96415967" "96415967" "subst" "4.06636E-6" "01943" "DNAJC3_000014" "g.96415967C>T" "" "" "" "DNAJC3(NM_006260.4):c.919C>T (p.R307C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863422" "0" "50" "13" "96375574" "96375574" "subst" "0" "02330" "DNAJC3_000013" "g.96375574T>G" "" "" "" "DNAJC3(NM_006260.5):c.272T>G (p.L91R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863423" "0" "30" "13" "96438227" "96438227" "subst" "1.64781E-5" "01943" "DNAJC3_000015" "g.96438227T>C" "" "" "" "DNAJC3(NM_006260.4):c.1110T>C (p.N370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891571" "0" "30" "13" "96361560" "96361560" "subst" "0.00135833" "02330" "DNAJC3_000001" "g.96361560T>G" "" "" "" "DNAJC3(NM_006260.4):c.162T>G (p.A54=), DNAJC3(NM_006260.5):c.162T>G (p.A54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891572" "0" "50" "13" "96410016" "96410016" "subst" "6.91788E-5" "02330" "DNAJC3_000016" "g.96410016C>T" "" "" "" "DNAJC3(NM_006260.5):c.512C>T (p.T171I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000918213" "3" "90" "13" "96412327" "96412327" "subst" "4.0992E-6" "00006" "DNAJC3_000017" "g.96412327C>T" "" "{PMID:Synofzik 2014:25466870}, {PMID:Yepez 2022:35379322}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95760073C>T" "" "pathogenic (recessive)" "" "0000918214" "3" "90" "13" "96412327" "96412327" "subst" "4.0992E-6" "00006" "DNAJC3_000017" "g.96412327C>T" "" "{PMID:Synofzik 2014:25466870}, {PMID:Yepez 2022:35379322}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95760073C>T" "" "pathogenic (recessive)" "" "0000918215" "3" "90" "13" "96412327" "96412327" "subst" "4.0992E-6" "00006" "DNAJC3_000017" "g.96412327C>T" "" "{PMID:Synofzik 2014:25466870}, {PMID:Yepez 2022:35379322}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95760073C>T" "" "pathogenic (recessive)" "" "0000918216" "3" "90" "13" "96411329" "96484075" "del" "0" "00006" "DNAJC3_000018" "g.96411329_96484075del" "" "{PMID:Synofzik 2014:25466870}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95759075_95831821del" "" "pathogenic (recessive)" "" "0000918217" "3" "90" "13" "96411329" "96484075" "del" "0" "00006" "DNAJC3_000018" "g.96411329_96484075del" "" "{PMID:Synofzik 2014:25466870}" "" "" "" "Germline" "yes" "" "0" "" "" "g.95759075_95831821del" "" "pathogenic (recessive)" "" "0000918218" "3" "30" "13" "96375509" "96375509" "subst" "4.11885E-6" "00006" "DNAJC3_000019" "g.96375509T>A" "" "{PMID:Synofzik 2014:25466870}" "" "" "" "Germline" "" "" "0" "" "" "g.95723255T>A" "" "likely benign" "" "0000918219" "3" "30" "13" "96416192" "96416192" "subst" "0.00102171" "00006" "DNAJC3_000020" "g.96416192G>C" "" "{PMID:Synofzik 2014:25466870}" "" "" "" "Germline" "" "" "0" "" "" "g.95763938G>C" "" "likely benign" "" "0000918220" "1" "50" "13" "96412388" "96412388" "subst" "4.88452E-5" "00006" "DNAJC3_000021" "g.96412388C>T" "" "{PMID:Synofzik 2014:25466870}" "" "" "" "Germline" "" "" "0" "" "" "g.95760134C>T" "" "VUS" "" "0000918221" "2" "50" "13" "96416169" "96416169" "subst" "7.32297E-5" "00006" "DNAJC3_000005" "g.96416169G>A" "" "{PMID:Synofzik 2014:25466870}" "" "" "" "Germline" "" "" "0" "" "" "g.95763915G>A" "" "VUS" "" "0000950186" "0" "30" "13" "96412492" "96412492" "subst" "2.05558E-5" "02330" "DNAJC3_000022" "g.96412492C>T" "" "" "" "DNAJC3(NM_006260.5):c.728+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967356" "0" "30" "13" "96415954" "96415954" "subst" "2.8465E-5" "02330" "DNAJC3_000023" "g.96415954T>C" "" "" "" "DNAJC3(NM_006260.5):c.906T>C (p.A302=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000649" "0" "30" "13" "96375605" "96375605" "subst" "8.56157E-5" "01804" "DNAJC3_000024" "g.96375605G>C" "" "" "" "DNAJC3(NM_006260.4):c.303G>C (p.(Lys101Asn))" "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 DNAJC3 ## Count = 29 "{{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}}" "0000551122" "00006551" "30" "162" "0" "162" "0" "c.162T>G" "r.(?)" "p.(Ala54=)" "" "0000551123" "00006551" "30" "297" "0" "297" "0" "c.297A>G" "r.(?)" "p.(Gln99=)" "" "0000551124" "00006551" "50" "365" "0" "365" "0" "c.365A>G" "r.(?)" "p.(Asp122Gly)" "" "0000551125" "00006551" "10" "848" "10" "848" "10" "c.848+10T>C" "r.(=)" "p.(=)" "" "0000551126" "00006551" "50" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346Gln)" "" "0000551127" "00006551" "50" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Arg393Ter)" "" "0000551128" "00006551" "30" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(Tyr414=)" "" "0000551129" "00006551" "30" "1425" "0" "1425" "0" "c.1425C>A" "r.(?)" "p.(Gly475=)" "" "0000614687" "00006551" "50" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Ala106Thr)" "" "0000679851" "00006551" "50" "206" "0" "206" "0" "c.206A>G" "r.(?)" "p.(Asp69Gly)" "" "0000679852" "00006551" "50" "393" "18" "393" "18" "c.393+18T>G" "r.(=)" "p.(=)" "" "0000679853" "00006551" "30" "1230" "0" "1230" "0" "c.1230T>C" "r.(?)" "p.(Ile410=)" "" "0000853705" "00006551" "50" "919" "0" "919" "0" "c.919C>T" "r.(?)" "p.(Arg307Cys)" "" "0000863422" "00006551" "50" "272" "0" "272" "0" "c.272T>G" "r.(?)" "p.(Leu91Arg)" "" "0000863423" "00006551" "30" "1110" "0" "1110" "0" "c.1110T>C" "r.(?)" "p.(Asn370=)" "" "0000891571" "00006551" "30" "162" "0" "162" "0" "c.162T>G" "r.(?)" "p.(Ala54=)" "" "0000891572" "00006551" "50" "512" "0" "512" "0" "c.512C>T" "r.(?)" "p.(Thr171Ile)" "" "0000918213" "00006551" "90" "580" "0" "580" "0" "c.580C>T" "r.0" "p.0" "" "0000918214" "00006551" "90" "580" "0" "580" "0" "c.580C>T" "r.0" "p.0" "" "0000918215" "00006551" "90" "580" "0" "580" "0" "c.580C>T" "r.0" "p.0" "" "0000918216" "00006551" "90" "0" "0" "0" "0" "c.547-965_*3959{0}" "r.?" "p.?" "5i_12_" "0000918217" "00006551" "90" "0" "0" "0" "0" "c.547-965_*3959{0}" "r.?" "p.?" "5i_12_" "0000918218" "00006551" "30" "207" "0" "207" "0" "c.207T>A" "r.(?)" "p.(Asp69Glu)" "" "0000918219" "00006551" "30" "1060" "0" "1060" "0" "c.1060G>C" "r.(?)" "p.(Glu354Gln)" "" "0000918220" "00006551" "50" "641" "0" "641" "0" "c.641C>T" "r.(?)" "p.(Ala214Val)" "" "0000918221" "00006551" "50" "1037" "0" "1037" "0" "c.1037G>A" "r.(?)" "p.(Arg346Gln)" "" "0000950186" "00006551" "30" "728" "17" "728" "17" "c.728+17C>T" "r.(=)" "p.(=)" "" "0000967356" "00006551" "30" "906" "0" "906" "0" "c.906T>C" "r.(?)" "p.(=)" "" "0001000649" "00006551" "30" "303" "0" "303" "0" "c.303G>C" "r.(?)" "p.(Lys101Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000432660" "0000918213" "0000432661" "0000918214" "0000432662" "0000918215" "0000432663" "0000918216" "0000432664" "0000918217" "0000432665" "0000918218" "0000432666" "0000918219" "0000432667" "0000918220" "0000432667" "0000918221"