### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJB2) # 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}}" "DNAJB2" "DnaJ (Hsp40) homolog, subfamily B, member 2" "2" "q32-q34" "unknown" "NC_000002.11" "UD_132085427902" "" "https://www.LOVD.nl/DNAJB2" "" "1" "5228" "3300" "604139" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/DNAJB2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-03-03 17:42:35" "00006" "2026-03-06 17:26:39" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00006537" "DNAJB2" "transcript variant 1" "002" "NM_001039550.1" "" "NP_001034639.1" "" "" "" "-237" "1737" "834" "220144040" "220151622" "" "0000-00-00 00:00:00" "" "" "00026054" "DNAJB2" "transcript variant 2" "001" "NM_006736.5" "" "NP_006727.2" "" "" "RefSeq select" "-237" "2888" "975" "220144040" "220151622" "00006" "2026-03-03 17:42:58" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "03773" "HMNR5;DSMA5" "neuronopathy, distal hereditary motor, autosomal recessive, type 5" "AR" "614881" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2026-03-06 19:22:30" "04445" "CMT2T" "Charcot-Marie-Tooth disease,? axonal, type 2T (CMT-2T)" "" "616233" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNAJB2" "03773" "DNAJB2" "04445" ## 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}}" "00078523" "" "" "" "1" "" "00080" "" "" "M" "yes" "Iran" "?" "0" "" "" "Asian" "" "00292606" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00404925" "" "" "" "1" "" "00006" "{PMID:Sharifi 2021:33481221}" "analysis 432 SMA families; 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "Fam7" "00430268" "" "" "" "1" "" "03453" "" "" "M" "no" "Germany" "" "0" "" "" "" "" "00473395" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "M" "no" "Iran" "" "0" "" "" "" "Fam208291Pat683" "00473557" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "F" "yes" "Iran" "" "0" "" "" "" "Fam9314472Pat942" "00473697" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, no family history" "M" "yes" "Iran" "" "0" "" "" "" "Fam9516048Pat1124" "00473980" "" "" "" "1" "" "00006" "{PMID:Molaei 2025:41315541}" "analysis 2009 neuromuscular disorder individuals; patient, family history" "F" "no" "Iran" "" "0" "" "" "" "Fam9914231Pat1515" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00078523" "05123" "00292606" "00198" "00404925" "05123" "00430268" "04445" "00473395" "05113" "00473557" "05384" "00473697" "05123" "00473980" "05113" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03773, 04445, 05113, 05123, 05384 ## Count = 7 "{{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}}" "0000054460" "05123" "00078523" "00080" "Familial, autosomal recessive" "28y" "Parkinsonism" "16y" "28y" "" "" "" "" "" "" "" "" "" "0000297483" "05123" "00404925" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "spinal muscular atrophy" "" "0000321077" "04445" "00430268" "03453" "Familial, autosomal dominant" "66" "" "50y?" "" "walking difficulties" "" "" "" "" "" "" "" "" "0000358190" "05113" "00473395" "00006" "Familial, autosomal recessive" "29y" "Multiple affected siblings, started 7y with lower muscle weakness, pes cavus, impaired heel-toe walking, muscle cramps, hereditary axonal motor neuropathy reported in NCV." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" "0000358352" "05384" "00473557" "00006" "Familial, autosomal recessive" "28y" "sporadic case, started 17y with distal lower muscle weakness, walking difficulty, foot drop , pes cavus, heel-toe walking inability, active denervation and neurogenic MAUPs restricted to the lower limbs reported in EDX" "" "" "" "" "" "" "" "" "" "hereditary neuropathy" "" "0000358492" "05123" "00473697" "00006" "Familial, autosomal recessive" "28y" "age 28y , onset 10y, lower muscle weakness and walking difficulty, decreased DTR, fasciculation , muscle cramps, positive Gower’s sign, chronic active AHD reported in EDX and elevated CPK" "" "" "" "" "" "" "" "" "" "spinal myscular atrophy" "" "0000358775" "05113" "00473980" "00006" "Familial, autosomal recessive" "43y" "onset 17y, Loss of ambulation from 3y ago; Muscle weakness and wasting, distal>proximal, lower>upper limbs; Feet drop; Pes cavus, bilateral; Claw toes; Claw fingers; Hands tremor; Lordosis; Thenar & hypothenar atrophy, mild; EMG-NCV: chronic sensory motor polyneuropathy." "" "" "" "" "" "" "" "" "" "Charcot-Marie-Tooth disease" "" ## 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}}" "0000074861" "00078523" "1" "00080" "00080" "2016-07-15 16:53:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000293774" "00292606" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000406163" "00404925" "1" "00006" "00006" "2022-03-10 21:18:05" "" "" "SEQ" "DNA" "" "" "0000431682" "00430268" "1" "03453" "03453" "2023-01-16 16:31:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000475064" "00473395" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475226" "00473557" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475366" "00473697" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000475649" "00473980" "1" "00006" "00006" "2026-03-06 17:24:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000074861" "DNAJB2" "0000406163" "DNAJB2" "0000431682" "DNAJB2" ## 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}}" "0000119967" "3" "90" "2" "220142660" "220146511" "del" "0" "00080" "DNAJB2_000001" "g.220142660_220146511del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.219277938_219281789del" "" "pathogenic" "" "0000265372" "0" "10" "2" "220146651" "220146651" "subst" "0.147215" "02330" "DNAJB2_000003" "g.220146651G>A" "" "" "" "DNAJB2(NM_006736.6):c.230-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219281929G>A" "" "benign" "" "0000265373" "0" "10" "2" "220147847" "220147847" "subst" "0.0436629" "02330" "DNAJB2_000005" "g.220147847G>A" "" "" "" "DNAJB2(NM_006736.6):c.446-8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219283125G>A" "" "benign" "" "0000265374" "0" "10" "2" "220145286" "220145286" "subst" "0.186463" "02330" "DNAJB2_000002" "g.220145286C>T" "" "" "" "DNAJB2(NM_006736.6):c.66-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219280564C>T" "" "benign" "" "0000270826" "0" "30" "2" "220147591" "220147591" "subst" "0.000134178" "02326" "DNAJB2_000004" "g.220147591C>T" "" "" "" "DNAJB2(NM_006736.6):c.385C>T (p.R129W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.219282869C>T" "" "likely benign" "" "0000514703" "0" "30" "2" "220146642" "220146642" "subst" "4.06981E-6" "02330" "DNAJB2_000006" "g.220146642C>G" "" "" "" "DNAJB2(NM_006736.6):c.230-19C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219281920C>G" "" "likely benign" "" "0000514705" "0" "10" "2" "220149521" "220149521" "subst" "0.000468226" "02330" "DNAJB2_000007" "g.220149521C>T" "" "" "" "DNAJB2(NM_006736.6):c.787C>T (p.L263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219284799C>T" "" "benign" "" "0000514706" "0" "10" "2" "220149542" "220149542" "subst" "0.00264196" "02330" "DNAJB2_000008" "g.220149542G>C" "" "" "" "DNAJB2(NM_001039550.2):c.808G>C (p.G270R), DNAJB2(NM_006736.6):c.808G>C (p.G270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219284820G>C" "" "benign" "" "0000514707" "0" "30" "2" "220150730" "220150730" "subst" "0.000142818" "02330" "DNAJB2_000009" "g.220150730G>A" "" "" "" "DNAJB2(NM_006736.6):c.*1021G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219286008G>A" "" "likely benign" "" "0000607512" "0" "50" "2" "220149627" "220149627" "subst" "6.40637E-5" "02330" "DNAJB2_000011" "g.220149627G>A" "" "" "" "DNAJB2(NM_006736.6):c.893G>A (p.G298E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219284905G>A" "" "VUS" "" "0000620967" "0" "30" "2" "220146459" "220146459" "subst" "0.000898177" "02330" "DNAJB2_000010" "g.220146459C>T" "" "" "" "DNAJB2(NM_001039550.2):c.195C>T (p.Y65=), DNAJB2(NM_006736.6):c.195C>T (p.Y65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219281737C>T" "" "likely benign" "" "0000650463" "1" "50" "2" "220146494" "220146494" "subst" "0" "03575" "DNAJB2_000012" "g.220146494G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs730882139}" "Germline" "" "rs730882139" "0" "" "" "g.219281772G>A" "" "VUS" "" "0000654573" "0" "50" "2" "220147646" "220147646" "subst" "0" "02330" "DNAJB2_000013" "g.220147646A>G" "" "" "" "DNAJB2(NM_006736.6):c.440A>G (p.H147R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.219282924A>G" "" "VUS" "" "0000676522" "0" "30" "2" "220145330" "220145330" "subst" "0" "02330" "DNAJB2_000014" "g.220145330A>G" "" "" "" "DNAJB2(NM_006736.6):c.96A>G (p.P32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688658" "0" "30" "2" "220149451" "220149451" "subst" "0.000126212" "02326" "DNAJB2_000015" "g.220149451C>A" "" "" "" "DNAJB2(NM_006736.6):c.717C>A (p.T239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000718509" "0" "50" "2" "220146490" "220146490" "subst" "0" "02330" "DNAJB2_000016" "g.220146490A>C" "" "" "" "DNAJB2(NM_006736.6):c.226A>C (p.T76P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000842394" "3" "90" "2" "220146494" "220146494" "subst" "0" "00006" "DNAJB2_000012" "g.220146494G>A" "" "{PMID:Sharifi 2021:33481221}" "" "" "" "Germline" "" "" "0" "" "" "g.219281772G>A" "" "pathogenic (recessive)" "ACMG" "0000849739" "0" "30" "2" "220146459" "220146459" "subst" "0.000898177" "02326" "DNAJB2_000010" "g.220146459C>T" "" "" "" "DNAJB2(NM_001039550.2):c.195C>T (p.Y65=), DNAJB2(NM_006736.6):c.195C>T (p.Y65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858361" "0" "50" "2" "220146664" "220146664" "subst" "0" "02330" "DNAJB2_000017" "g.220146664C>G" "" "" "" "DNAJB2(NM_006736.6):c.233C>G (p.T78S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000916942" "0" "70" "2" "220150717" "220150717" "subst" "0" "03453" "DNAJB2_000018" "g.220150717T>G" "" "" "" "" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.219285995T>G" "" "likely pathogenic" "ACMG" "0000923626" "0" "30" "2" "220149542" "220149542" "subst" "0.00264196" "02326" "DNAJB2_000008" "g.220149542G>C" "" "" "" "DNAJB2(NM_001039550.2):c.808G>C (p.G270R), DNAJB2(NM_006736.6):c.808G>C (p.G270R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961905" "0" "30" "2" "220146680" "220146680" "subst" "2.03087E-5" "02330" "DNAJB2_000019" "g.220146680A>G" "" "" "" "DNAJB2(NM_006736.6):c.249A>G (p.A83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001069461" "3" "70" "2" "220146784" "220146784" "subst" "0" "00006" "DNAJB2_000022" "g.220146784G>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1Strong, PM2" "Germline" "" "" "0" "" "" "g.219282062G>C" "SCV006074878.1" "likely pathogenic" "ACMG" "0001069622" "3" "70" "2" "220147854" "220147854" "subst" "0" "00006" "DNAJB2_000023" "g.220147854G>C" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.219283132G>C" "SCV006074879.1" "likely pathogenic" "ACMG" "0001069761" "3" "90" "2" "220145353" "220145354" "del" "0" "00006" "DNAJB2_000020" "g.220145353_220145354del" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.219280631_219280632del" "SCV006074876.1" "pathogenic" "ACMG" "0001070041" "3" "70" "2" "220145412" "220145412" "subst" "0" "00006" "DNAJB2_000021" "g.220145412A>T" "" "{PMID:Molaei 2025:41315541}" "" "" "ACMG PM2, PP3_str" "Germline" "" "" "0" "" "" "g.219280690A>T" "SCV006074877.1" "likely pathogenic" "ACMG" ## 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 DNAJB2 ## 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}}" "0000119967" "00006537" "90" "-1618" "0" "229" "17" "c.-1618_229+17del" "r.0?" "p.0?" "1_4i" "0000265372" "00006537" "10" "230" "-10" "230" "-10" "c.230-10G>A" "r.(=)" "p.(=)" "" "0000265373" "00006537" "10" "446" "-8" "446" "-8" "c.446-8G>A" "r.(=)" "p.(=)" "" "0000265374" "00006537" "10" "66" "-14" "66" "-14" "c.66-14C>T" "r.(=)" "p.(=)" "" "0000270826" "00006537" "30" "385" "0" "385" "0" "c.385C>T" "r.(?)" "p.(Arg129Trp)" "" "0000514703" "00006537" "30" "230" "-19" "230" "-19" "c.230-19C>G" "r.(=)" "p.(=)" "" "0000514705" "00006537" "10" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Leu263=)" "" "0000514706" "00006537" "10" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Gly270Arg)" "" "0000514707" "00006537" "30" "845" "0" "845" "0" "c.*11G>A" "r.(=)" "p.(=)" "" "0000607512" "00006537" "50" "823" "70" "823" "70" "c.823+70G>A" "r.(=)" "p.(=)" "" "0000620967" "00006537" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Tyr65=)" "" "0000650463" "00006537" "50" "229" "1" "229" "1" "c.229+1G>A" "r.spl?" "p.?" "" "0000650463" "00026054" "50" "229" "1" "229" "1" "c.229+1G>A" "r.spl?" "p.?" "" "0000654573" "00006537" "50" "440" "0" "440" "0" "c.440A>G" "r.(?)" "p.(His147Arg)" "" "0000676522" "00006537" "30" "96" "0" "96" "0" "c.96A>G" "r.(?)" "p.(Pro32=)" "" "0000688658" "00006537" "30" "717" "0" "717" "0" "c.717C>A" "r.(?)" "p.(Thr239=)" "" "0000718509" "00006537" "50" "226" "0" "226" "0" "c.226A>C" "r.(?)" "p.(Thr76Pro)" "" "0000842394" "00006537" "90" "229" "1" "229" "1" "c.229+1G>A" "r.spl" "p.?" "" "0000849739" "00006537" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Tyr65=)" "" "0000858361" "00006537" "50" "233" "0" "233" "0" "c.233C>G" "r.(?)" "p.(Thr78Ser)" "" "0000916942" "00006537" "70" "832" "0" "832" "0" "c.832T>G" "r.(?)" "p.(*278Glyext*83)" "" "0000923626" "00006537" "30" "808" "0" "808" "0" "c.808G>C" "r.(?)" "p.(Gly270Arg)" "" "0000961905" "00006537" "30" "249" "0" "249" "0" "c.249A>G" "r.(?)" "p.(=)" "" "0001069461" "00006537" "70" "352" "1" "352" "1" "c.352+1G>C" "r.spl" "p.?" "" "0001069622" "00006537" "70" "446" "-1" "446" "-1" "c.446-1G>C" "r.spl" "p.?" "" "0001069761" "00006537" "90" "119" "0" "120" "0" "c.119_120del" "r.(?)" "p.(Glu40ValfsTer3)" "" "0001070041" "00006537" "70" "175" "3" "175" "3" "c.175+3A>T" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000074861" "0000119967" "0000293774" "0000650463" "0000406163" "0000842394" "0000431682" "0000916942" "0000475064" "0001069461" "0000475226" "0001069622" "0000475366" "0001069761" "0000475649" "0001070041"