### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJC13) # 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}}" "DNAJC13" "DnaJ (Hsp40) homolog, subfamily C, member 13" "3" "q22.1" "unknown" "NG_051045.1" "UD_136020610127" "" "https://www.LOVD.nl/DNAJC13" "" "1" "30343" "23317" "614334" "1" "1" "1" "1" "A Parkinson\'s disease Mutation Database\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "A Parkinson\'s disease Mutation Database" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-09-18 13:57:44" "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}}" "00006565" "DNAJC13" "DnaJ (Hsp40) homolog, subfamily C, member 13" "001" "NM_015268.3" "" "NP_056083.3" "" "" "" "-65" "7482" "6732" "132136553" "132257876" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "04446" "PARK21" "Parkinson disease, type 21 (PARK-21)" "" "616361" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAJC13" "04446" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 04446 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## 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 = 101 "{{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}}" "0000249922" "0" "10" "3" "132196816" "132196816" "subst" "0.482286" "02329" "DNAJC13_000012" "g.132196816A>T" "" "" "" "DNAJC13(NM_015268.4):c.2550-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132477972A>T" "" "benign" "" "0000249923" "0" "10" "3" "132235344" "132235344" "subst" "0.0444574" "02329" "DNAJC13_000030" "g.132235344A>T" "" "" "" "DNAJC13(NM_015268.4):c.5560+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132516500A>T" "" "benign" "" "0000249940" "0" "30" "3" "132226100" "132226100" "subst" "0.0461612" "02329" "DNAJC13_000028" "g.132226100A>G" "" "" "" "DNAJC13(NM_015268.4):c.5018A>G (p.Y1673C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132507256A>G" "" "likely benign" "" "0000250417" "0" "30" "3" "132196819" "132196819" "del" "0.00888765" "02329" "DNAJC13_000013" "g.132196819del" "" "" "" "DNAJC13(NM_015268.4):c.2550-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132477975del" "" "likely benign" "" "0000253146" "0" "10" "3" "132196816" "132196816" "subst" "0.482286" "01943" "DNAJC13_000012" "g.132196816A>T" "" "" "" "DNAJC13(NM_015268.4):c.2550-9A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132477972A>T" "" "benign" "" "0000253147" "0" "10" "3" "132235344" "132235344" "subst" "0.0444574" "01943" "DNAJC13_000030" "g.132235344A>T" "" "" "" "DNAJC13(NM_015268.4):c.5560+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132516500A>T" "" "benign" "" "0000253164" "0" "10" "3" "132226100" "132226100" "subst" "0.0461612" "01943" "DNAJC13_000028" "g.132226100A>G" "" "" "" "DNAJC13(NM_015268.4):c.5018A>G (p.Y1673C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132507256A>G" "" "benign" "" "0000254455" "0" "30" "3" "132241748" "132241748" "subst" "4.07375E-6" "01943" "DNAJC13_000034" "g.132241748A>G" "" "" "" "DNAJC13(NM_015268.4):c.5750A>G (p.H1917R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132522904A>G" "" "likely benign" "" "0000254782" "0" "30" "3" "132242012" "132242012" "subst" "0.00121169" "01943" "DNAJC13_000035" "g.132242012A>C" "" "" "" "DNAJC13(NM_015268.4):c.5855A>C (p.N1952T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132523168A>C" "" "likely benign" "" "0000255087" "0" "30" "3" "132175418" "132175418" "subst" "8.14783E-5" "01943" "DNAJC13_000007" "g.132175418A>T" "" "" "" "DNAJC13(NM_015268.4):c.1173A>T (p.T391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132456574A>T" "" "likely benign" "" "0000256641" "0" "50" "3" "132211341" "132211341" "subst" "0.000288449" "01943" "DNAJC13_000017" "g.132211341A>G" "" "" "" "DNAJC13(NM_015268.4):c.3707A>G (p.Y1236C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132492497A>G" "" "VUS" "" "0000268705" "0" "10" "3" "132166161" "132166161" "del" "0" "02329" "DNAJC13_000001" "g.132166161del" "" "" "" "DNAJC13(NM_015268.4):c.145-4delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132447317del" "" "benign" "" "0000268706" "0" "30" "3" "132193770" "132193770" "subst" "0.0081825" "02329" "DNAJC13_000009" "g.132193770G>A" "" "" "" "DNAJC13(NM_015268.3):c.2292-6G>A (p.(=)), DNAJC13(NM_015268.4):c.2292-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132474926G>A" "" "likely benign" "" "0000268707" "0" "30" "3" "132193894" "132193894" "subst" "8.22605E-6" "02329" "DNAJC13_000010" "g.132193894G>A" "" "" "" "DNAJC13(NM_015268.4):c.2410G>A (p.A804T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132475050G>A" "" "likely benign" "" "0000268708" "0" "10" "3" "132166266" "132166266" "subst" "0.133334" "02329" "DNAJC13_000002" "g.132166266T>G" "" "" "" "DNAJC13(NM_015268.4):c.246T>G (p.T82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132447422T>G" "" "benign" "" "0000268709" "0" "30" "3" "132166302" "132166302" "subst" "0.0118279" "02329" "DNAJC13_000003" "g.132166302T>G" "" "" "" "DNAJC13(NM_015268.4):c.282T>G (p.L94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132447458T>G" "" "likely benign" "" "0000268710" "0" "10" "3" "132217957" "132217957" "subst" "0.0709017" "02329" "DNAJC13_000020" "g.132217957T>G" "" "" "" "DNAJC13(NM_015268.4):c.4157-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132499113T>G" "" "benign" "" "0000268711" "0" "30" "3" "132218075" "132218075" "subst" "0.0163583" "02329" "DNAJC13_000021" "g.132218075C>T" "" "" "" "DNAJC13(NM_015268.4):c.4262C>T (p.A1421V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132499231C>T" "" "likely benign" "" "0000268712" "0" "30" "3" "132218621" "132218621" "subst" "0.00906822" "02329" "DNAJC13_000022" "g.132218621G>A" "" "" "" "DNAJC13(NM_015268.4):c.4385G>A (p.R1462H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132499777G>A" "" "likely benign" "" "0000268713" "0" "10" "3" "132218623" "132218623" "subst" "0.557435" "02329" "DNAJC13_000023" "g.132218623G>T" "" "" "" "DNAJC13(NM_015268.4):c.4387G>T (p.A1463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132499779G>T" "" "benign" "" "0000268714" "0" "30" "3" "132221139" "132221139" "subst" "0.0196914" "02329" "DNAJC13_000024" "g.132221139C>T" "" "" "" "DNAJC13(NM_015268.4):c.4543C>T (p.P1515S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132502295C>T" "" "likely benign" "" "0000268716" "0" "30" "3" "132169705" "132169705" "subst" "0" "02329" "DNAJC13_000005" "g.132169705T>A" "" "" "" "DNAJC13(NM_015268.4):c.537+14T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132450861T>A" "" "likely benign" "" "0000275370" "0" "30" "3" "132175596" "132175596" "subst" "0.000593834" "01943" "DNAJC13_000008" "g.132175596G>A" "" "" "" "DNAJC13(NM_001329126.1):c.1269G>A (p.A423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132456752G>A" "" "likely benign" "" "0000275371" "0" "10" "3" "132166266" "132166266" "subst" "0.133334" "01943" "DNAJC13_000002" "g.132166266T>G" "" "" "" "DNAJC13(NM_015268.4):c.246T>G (p.T82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132447422T>G" "" "benign" "" "0000275372" "0" "30" "3" "132196815" "132196815" "subst" "0.000360089" "01943" "DNAJC13_000011" "g.132196815T>A" "" "" "" "DNAJC13(NM_015268.4):c.2550-10T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132477971T>A" "" "likely benign" "" "0000275373" "0" "50" "3" "132196983" "132196983" "subst" "0.00209828" "01943" "DNAJC13_000014" "g.132196983G>A" "" "" "" "DNAJC13(NM_015268.4):c.2708G>A (p.R903K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132478139G>A" "" "VUS" "" "0000275374" "0" "30" "3" "132198097" "132198097" "subst" "0.00192871" "01943" "DNAJC13_000015" "g.132198097G>A" "" "" "" "DNAJC13(NM_001329126.1):c.2751G>A (p.R917=), DNAJC13(NM_015268.4):c.2736G>A (p.(Arg912=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132479253G>A" "" "likely benign" "" "0000275375" "0" "10" "3" "132166302" "132166302" "subst" "0.0118279" "01943" "DNAJC13_000003" "g.132166302T>G" "" "" "" "DNAJC13(NM_015268.4):c.282T>G (p.L94=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132447458T>G" "" "benign" "" "0000275376" "0" "30" "3" "132209866" "132209866" "subst" "0.00368708" "01943" "DNAJC13_000016" "g.132209866T>C" "" "" "" "DNAJC13(NM_001329126.1):c.3609T>C (p.T1203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132491022T>C" "" "likely benign" "" "0000275377" "0" "50" "3" "132211458" "132211458" "subst" "4.07498E-6" "01943" "DNAJC13_000018" "g.132211458C>T" "" "" "" "DNAJC13(NM_015268.4):c.3824C>T (p.P1275L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132492614C>T" "" "VUS" "" "0000275378" "0" "30" "3" "132213932" "132213932" "subst" "0.00145111" "01943" "DNAJC13_000019" "g.132213932G>A" "" "" "" "DNAJC13(NM_015268.4):c.3942G>A (p.P1314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132495088G>A" "" "likely benign" "" "0000275379" "0" "10" "3" "132217957" "132217957" "subst" "0.0709017" "01943" "DNAJC13_000020" "g.132217957T>G" "" "" "" "DNAJC13(NM_015268.4):c.4157-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132499113T>G" "" "benign" "" "0000275380" "0" "10" "3" "132218621" "132218621" "subst" "0.00906822" "01943" "DNAJC13_000022" "g.132218621G>A" "" "" "" "DNAJC13(NM_015268.4):c.4385G>A (p.R1462H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132499777G>A" "" "benign" "" "0000275381" "0" "10" "3" "132218623" "132218623" "subst" "0.557435" "01943" "DNAJC13_000023" "g.132218623G>T" "" "" "" "DNAJC13(NM_015268.4):c.4387G>T (p.A1463S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132499779G>T" "" "benign" "" "0000275382" "0" "10" "3" "132221139" "132221139" "subst" "0.0196914" "01943" "DNAJC13_000024" "g.132221139C>T" "" "" "" "DNAJC13(NM_015268.4):c.4543C>T (p.P1515S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132502295C>T" "" "benign" "" "0000275383" "0" "50" "3" "132221143" "132221143" "subst" "0.00209028" "01943" "DNAJC13_000025" "g.132221143G>A" "" "" "" "DNAJC13(NM_015268.4):c.4547G>A (p.R1516H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132502299G>A" "" "VUS" "" "0000275384" "0" "50" "3" "132222104" "132222104" "subst" "4.4726E-5" "01943" "DNAJC13_000026" "g.132222104G>A" "" "" "" "DNAJC13(NM_015268.4):c.4763G>A (p.R1588H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132503260G>A" "" "VUS" "" "0000275385" "0" "30" "3" "132226073" "132226074" "del" "0" "01943" "DNAJC13_000027" "g.132226073_132226074del" "" "" "" "DNAJC13(NM_015268.4):c.4999-8_4999-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132507229_132507230del" "" "likely benign" "" "0000275386" "0" "10" "3" "132231952" "132231952" "subst" "0.00168176" "01943" "DNAJC13_000029" "g.132231952G>A" "" "" "" "DNAJC13(NM_015268.4):c.5385+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132513108G>A" "" "benign" "" "0000275387" "0" "30" "3" "132235633" "132235633" "subst" "0.000904203" "01943" "DNAJC13_000031" "g.132235633G>C" "" "" "" "DNAJC13(NM_015268.4):c.5646G>C (p.M1882I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132516789G>C" "" "likely benign" "" "0000275388" "0" "30" "3" "132241682" "132241682" "subst" "0.00150718" "01943" "DNAJC13_000032" "g.132241682C>T" "" "" "" "DNAJC13(NM_001329126.2):c.5699C>T (p.T1900M), DNAJC13(NM_015268.4):c.5684C>T (p.T1895M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132522838C>T" "" "likely benign" "" "0000275389" "0" "30" "3" "132241705" "132241705" "subst" "2.49261E-5" "01943" "DNAJC13_000033" "g.132241705G>A" "" "" "" "DNAJC13(NM_015268.4):c.5707G>A (p.V1903I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132522861G>A" "" "likely benign" "" "0000275390" "0" "50" "3" "132242480" "132242480" "subst" "0.00112619" "01943" "DNAJC13_000036" "g.132242480G>C" "" "" "" "DNAJC13(NM_001329126.1):c.5998G>C (p.V2000L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132523636G>C" "" "VUS" "" "0000275391" "0" "50" "3" "132172252" "132172252" "subst" "2.03277E-5" "01943" "DNAJC13_000006" "g.132172252G>T" "" "" "" "DNAJC13(NM_015268.4):c.648G>T (p.E216D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.132453408G>T" "" "VUS" "" "0000517903" "0" "50" "3" "132169690" "132169690" "subst" "0" "01943" "DNAJC13_000037" "g.132169690T>C" "" "" "" "DNAJC13(NM_001329126.1):c.536T>C (p.L179S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132450846T>C" "" "VUS" "" "0000517904" "0" "10" "3" "132169717" "132169717" "dup" "0" "02329" "DNAJC13_000038" "g.132169717dup" "" "" "" "DNAJC13(NM_015268.4):c.537+26dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132450873dup" "" "benign" "" "0000517905" "0" "30" "3" "132173016" "132173017" "dup" "0" "02329" "DNAJC13_000039" "g.132173016_132173017dup" "" "" "" "DNAJC13(NM_015268.4):c.932+15_932+16dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132454172_132454173dup" "" "likely benign" "" "0000517906" "0" "10" "3" "132173017" "132173017" "del" "0" "02329" "DNAJC13_000040" "g.132173017del" "" "" "" "DNAJC13(NM_015268.4):c.932+16delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132454173del" "" "benign" "" "0000517907" "0" "30" "3" "132185236" "132185236" "subst" "2.22481E-5" "01943" "DNAJC13_000041" "g.132185236A>G" "" "" "" "DNAJC13(NM_001329126.1):c.2062A>G (p.M688V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132466392A>G" "" "likely benign" "" "0000517908" "0" "50" "3" "132186072" "132186072" "subst" "3.65654E-5" "01943" "DNAJC13_000042" "g.132186072C>T" "" "" "" "DNAJC13(NM_015268.4):c.2123C>T (p.A708V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132467228C>T" "" "VUS" "" "0000517909" "0" "30" "3" "132193770" "132193770" "subst" "0.0081825" "01804" "DNAJC13_000009" "g.132193770G>A" "" "" "" "DNAJC13(NM_015268.3):c.2292-6G>A (p.(=)), DNAJC13(NM_015268.4):c.2292-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132474926G>A" "" "likely benign" "" "0000517910" "0" "50" "3" "132193853" "132193853" "subst" "0.00496327" "01943" "DNAJC13_000043" "g.132193853C>A" "" "" "" "DNAJC13(NM_001329126.1):c.2384C>A (p.S795Y), DNAJC13(NM_015268.3):c.2369C>A (p.(Ser790Tyr)), DNAJC13(NM_015268.4):c.2369C>A (p.S790Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132475009C>A" "" "VUS" "" "0000517911" "0" "30" "3" "132193853" "132193853" "subst" "0.00496327" "01804" "DNAJC13_000043" "g.132193853C>A" "" "" "" "DNAJC13(NM_001329126.1):c.2384C>A (p.S795Y), DNAJC13(NM_015268.3):c.2369C>A (p.(Ser790Tyr)), DNAJC13(NM_015268.4):c.2369C>A (p.S790Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132475009C>A" "" "likely benign" "" "0000517912" "0" "30" "3" "132193853" "132193853" "subst" "0.00496327" "02329" "DNAJC13_000043" "g.132193853C>A" "" "" "" "DNAJC13(NM_001329126.1):c.2384C>A (p.S795Y), DNAJC13(NM_015268.3):c.2369C>A (p.(Ser790Tyr)), DNAJC13(NM_015268.4):c.2369C>A (p.S790Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132475009C>A" "" "likely benign" "" "0000517913" "0" "30" "3" "132201136" "132201136" "subst" "1.62524E-5" "01943" "DNAJC13_000044" "g.132201136G>A" "" "" "" "DNAJC13(NM_001329126.1):c.2956G>A (p.A986T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132482292G>A" "" "likely benign" "" "0000517914" "0" "30" "3" "132202407" "132202407" "subst" "0" "01943" "DNAJC13_000045" "g.132202407A>T" "" "" "" "DNAJC13(NM_001329126.1):c.3183A>T (p.G1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132483563A>T" "" "likely benign" "" "0000517915" "0" "30" "3" "132203494" "132203494" "subst" "0.000430642" "01943" "DNAJC13_000046" "g.132203494C>T" "" "" "" "DNAJC13(NM_001329126.1):c.3260C>T (p.T1087I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132484650C>T" "" "likely benign" "" "0000517917" "0" "50" "3" "132212989" "132212989" "subst" "4.27128E-6" "01943" "DNAJC13_000047" "g.132212989T>G" "" "" "" "DNAJC13(NM_001329126.1):c.3842T>G (p.V1281G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132494145T>G" "" "VUS" "" "0000517918" "0" "30" "3" "132213034" "132213034" "subst" "0.00472685" "01943" "DNAJC13_000048" "g.132213034A>G" "" "" "" "DNAJC13(NM_015268.4):c.3872A>G (p.E1291G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132494190A>G" "" "likely benign" "" "0000517919" "0" "30" "3" "132213034" "132213034" "subst" "0.00472685" "02329" "DNAJC13_000048" "g.132213034A>G" "" "" "" "DNAJC13(NM_015268.4):c.3872A>G (p.E1291G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132494190A>G" "" "likely benign" "" "0000517920" "0" "30" "3" "132213932" "132213932" "subst" "0.00145111" "02329" "DNAJC13_000019" "g.132213932G>A" "" "" "" "DNAJC13(NM_015268.4):c.3942G>A (p.P1314=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132495088G>A" "" "likely benign" "" "0000517921" "0" "30" "3" "132215459" "132215459" "subst" "0" "01943" "DNAJC13_000049" "g.132215459A>C" "" "" "" "DNAJC13(NM_001329126.1):c.4123A>C (p.I1375L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132496615A>C" "" "likely benign" "" "0000517922" "0" "10" "3" "132221142" "132221142" "subst" "0.00123074" "01943" "DNAJC13_000050" "g.132221142C>T" "" "" "" "DNAJC13(NM_001329126.1):c.4561C>T (p.R1521C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132502298C>T" "" "benign" "" "0000517923" "0" "50" "3" "132221149" "132221149" "subst" "4.0706E-6" "01943" "DNAJC13_000051" "g.132221149C>T" "" "" "" "DNAJC13(NM_001329126.1):c.4568C>T (p.A1523V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132502305C>T" "" "VUS" "" "0000517924" "0" "10" "3" "132222154" "132222154" "subst" "0.000739705" "01943" "DNAJC13_000052" "g.132222154A>G" "" "" "" "DNAJC13(NM_015268.4):c.4813A>G (p.I1605V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132503310A>G" "" "benign" "" "0000517925" "0" "50" "3" "132222194" "132222194" "subst" "2.03234E-5" "01943" "DNAJC13_000053" "g.132222194C>T" "" "" "" "DNAJC13(NM_001329126.1):c.4868C>T (p.A1623V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132503350C>T" "" "VUS" "" "0000517926" "0" "10" "3" "132224128" "132224128" "subst" "0.115999" "01943" "DNAJC13_000054" "g.132224128G>A" "" "" "" "DNAJC13(NM_015268.4):c.4885-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132505284G>A" "" "benign" "" "0000517927" "0" "10" "3" "132224128" "132224128" "subst" "0.115999" "02329" "DNAJC13_000054" "g.132224128G>A" "" "" "" "DNAJC13(NM_015268.4):c.4885-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132505284G>A" "" "benign" "" "0000517928" "0" "30" "3" "132224134" "132224134" "subst" "0.00146161" "02329" "DNAJC13_000055" "g.132224134A>C" "" "" "" "DNAJC13(NM_015268.4):c.4885-12A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132505290A>C" "" "likely benign" "" "0000517929" "0" "30" "3" "132226073" "132226074" "del" "0" "02329" "DNAJC13_000027" "g.132226073_132226074del" "" "" "" "DNAJC13(NM_015268.4):c.4999-8_4999-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132507229_132507230del" "" "likely benign" "" "0000517930" "0" "30" "3" "132229967" "132229967" "subst" "0" "02329" "DNAJC13_000056" "g.132229967C>T" "" "" "" "DNAJC13(NM_015268.4):c.5172C>T (p.Y1724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132511123C>T" "" "likely benign" "" "0000517931" "0" "50" "3" "132230013" "132230013" "subst" "0.00117925" "01943" "DNAJC13_000057" "g.132230013G>C" "" "" "" "DNAJC13(NM_001329126.1):c.5233G>C (p.E1745Q), DNAJC13(NM_015268.3):c.5218G>C (p.(Glu1740Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132511169G>C" "" "VUS" "" "0000517932" "0" "30" "3" "132230013" "132230013" "subst" "0.00117925" "01804" "DNAJC13_000057" "g.132230013G>C" "" "" "" "DNAJC13(NM_001329126.1):c.5233G>C (p.E1745Q), DNAJC13(NM_015268.3):c.5218G>C (p.(Glu1740Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132511169G>C" "" "likely benign" "" "0000517933" "0" "10" "3" "132231950" "132231950" "subst" "0.00132706" "01943" "DNAJC13_000058" "g.132231950G>A" "" "" "" "DNAJC13(NM_001329126.1):c.5400+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132513106G>A" "" "benign" "" "0000517935" "0" "30" "3" "132241682" "132241682" "subst" "0.00150718" "02325" "DNAJC13_000032" "g.132241682C>T" "" "" "" "DNAJC13(NM_001329126.2):c.5699C>T (p.T1900M), DNAJC13(NM_015268.4):c.5684C>T (p.T1895M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132522838C>T" "" "likely benign" "" "0000517937" "0" "30" "3" "132242012" "132242012" "subst" "0.00121169" "02329" "DNAJC13_000035" "g.132242012A>C" "" "" "" "DNAJC13(NM_015268.4):c.5855A>C (p.N1952T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132523168A>C" "" "likely benign" "" "0000517938" "0" "30" "3" "132244504" "132244504" "subst" "0.000589129" "01943" "DNAJC13_000061" "g.132244504A>G" "" "" "" "DNAJC13(NM_015268.4):c.6111A>G (p.A2037=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132525660A>G" "" "likely benign" "" "0000517939" "0" "30" "3" "132244540" "132244540" "subst" "0" "01943" "DNAJC13_000062" "g.132244540C>A" "" "" "" "DNAJC13(NM_001329126.1):c.6162C>A (p.G2054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132525696C>A" "" "likely benign" "" "0000517940" "0" "50" "3" "132244562" "132244562" "subst" "0.000792148" "01943" "DNAJC13_000063" "g.132244562G>T" "" "" "" "DNAJC13(NM_001329126.1):c.6184G>T (p.A2062S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132525718G>T" "" "VUS" "" "0000517941" "0" "30" "3" "132244637" "132244637" "subst" "0.00114651" "02329" "DNAJC13_000064" "g.132244637T>C" "" "" "" "DNAJC13(NM_015268.4):c.6240+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132525793T>C" "" "likely benign" "" "0000517942" "0" "30" "3" "132247160" "132247160" "subst" "0.00234963" "01943" "DNAJC13_000065" "g.132247160T>G" "" "" "" "DNAJC13(NM_001329126.1):c.6524T>G (p.L2175W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132528316T>G" "" "likely benign" "" "0000517943" "0" "50" "3" "132249836" "132249836" "subst" "2.43829E-5" "01943" "DNAJC13_000066" "g.132249836T>A" "" "" "" "DNAJC13(NM_001329126.1):c.6541-6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132530992T>A" "" "VUS" "" "0000608328" "0" "30" "3" "132165413" "132165413" "subst" "0.00220995" "02329" "DNAJC13_000067" "g.132165413G>A" "" "" "" "DNAJC13(NM_015268.4):c.144+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132446569G>A" "" "likely benign" "" "0000608329" "0" "30" "3" "132235306" "132235306" "subst" "2.44157E-5" "01943" "DNAJC13_000069" "g.132235306G>A" "" "" "" "DNAJC13(NM_001329126.1):c.5541G>A (p.S1847=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132516462G>A" "" "likely benign" "" "0000621179" "0" "50" "3" "132219684" "132219684" "subst" "0" "01943" "DNAJC13_000068" "g.132219684A>G" "" "" "" "DNAJC13(NM_015268.4):c.4463A>G (p.E1488G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132500840A>G" "" "VUS" "" "0000621180" "0" "30" "3" "132257045" "132257045" "subst" "1.62738E-5" "01943" "DNAJC13_000070" "g.132257045C>T" "" "" "" "DNAJC13(NM_015268.4):c.6651C>T (p.T2217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132538201C>T" "" "likely benign" "" "0000654803" "0" "10" "3" "132224127" "132224127" "subst" "0.00185418" "02329" "DNAJC13_000071" "g.132224127C>T" "" "" "" "DNAJC13(NM_015268.4):c.4885-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132505283C>T" "" "benign" "" "0000654804" "0" "50" "3" "132241676" "132241676" "subst" "2.94571E-5" "01943" "DNAJC13_000072" "g.132241676G>A" "" "" "" "DNAJC13(NM_015268.4):c.5678G>A (p.R1893Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.132522832G>A" "" "VUS" "" "0000676824" "0" "50" "3" "132196860" "132196860" "subst" "0" "01943" "DNAJC13_000073" "g.132196860T>G" "" "" "" "DNAJC13(NM_015268.4):c.2585T>G (p.L862W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676825" "0" "50" "3" "132218012" "132218012" "subst" "0.000232242" "01943" "DNAJC13_000074" "g.132218012G>A" "" "" "" "DNAJC13(NM_015268.4):c.4199G>A (p.R1400Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719188" "0" "50" "3" "132201099" "132201099" "subst" "0" "01943" "DNAJC13_000075" "g.132201099G>A" "" "" "" "DNAJC13(NM_015268.4):c.2904G>A (p.M968I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719189" "0" "30" "3" "132218164" "132218164" "subst" "4.5347E-6" "01943" "DNAJC13_000076" "g.132218164A>G" "" "" "" "DNAJC13(NM_015268.4):c.4341+10A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800988" "0" "30" "3" "132175539" "132175539" "subst" "4.07183E-6" "01943" "DNAJC13_000077" "g.132175539C>T" "" "" "" "DNAJC13(NM_015268.4):c.1212C>T (p.I404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800989" "0" "50" "3" "132249908" "132249908" "subst" "1.62497E-5" "01943" "DNAJC13_000078" "g.132249908A>G" "" "" "" "DNAJC13(NM_015268.4):c.6592A>G (p.I2198V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858801" "0" "30" "3" "132198139" "132198139" "subst" "0" "01943" "DNAJC13_000079" "g.132198139G>A" "" "" "" "DNAJC13(NM_015268.4):c.2772+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928713" "0" "10" "3" "132169717" "132169717" "del" "0" "02329" "DNAJC13_000080" "g.132169717del" "" "" "" "DNAJC13(NM_015268.4):c.537+26delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928714" "0" "50" "3" "132185195" "132185195" "subst" "0.000399449" "02325" "DNAJC13_000081" "g.132185195A>C" "" "" "" "DNAJC13(NM_015268.4):c.2021A>C (p.D674A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975580" "0" "30" "3" "132257014" "132257014" "subst" "0.0029834" "01804" "DNAJC13_000082" "g.132257014T>C" "" "" "" "DNAJC13(NM_015268.4):c.6626-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993296" "0" "10" "3" "132169717" "132169717" "dup" "0" "02326" "DNAJC13_000038" "g.132169717dup" "" "" "" "DNAJC13(NM_015268.4):c.537+26dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000993297" "0" "30" "3" "132235268" "132235268" "subst" "1.22103E-5" "01804" "DNAJC13_000083" "g.132235268C>T" "" "" "" "DNAJC13(NM_015268.3):c.5488C>T (p.(Arg1830Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001051505" "0" "30" "3" "132198097" "132198097" "subst" "0.00192871" "01804" "DNAJC13_000015" "g.132198097G>A" "" "" "" "DNAJC13(NM_001329126.1):c.2751G>A (p.R917=), DNAJC13(NM_015268.4):c.2736G>A (p.(Arg912=))" "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 DNAJC13 ## Count = 101 "{{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}}" "0000249922" "00006565" "10" "2550" "-9" "2550" "-9" "c.2550-9A>T" "r.(=)" "p.(=)" "" "0000249923" "00006565" "10" "5560" "4" "5560" "4" "c.5560+4A>T" "r.spl?" "p.?" "" "0000249940" "00006565" "30" "5018" "0" "5018" "0" "c.5018A>G" "r.(?)" "p.(Tyr1673Cys)" "" "0000250417" "00006565" "30" "2550" "-6" "2550" "-6" "c.2550-6del" "r.(=)" "p.(=)" "" "0000253146" "00006565" "10" "2550" "-9" "2550" "-9" "c.2550-9A>T" "r.(=)" "p.(=)" "" "0000253147" "00006565" "10" "5560" "4" "5560" "4" "c.5560+4A>T" "r.spl?" "p.?" "" "0000253164" "00006565" "10" "5018" "0" "5018" "0" "c.5018A>G" "r.(?)" "p.(Tyr1673Cys)" "" "0000254455" "00006565" "30" "5750" "0" "5750" "0" "c.5750A>G" "r.(?)" "p.(His1917Arg)" "" "0000254782" "00006565" "30" "5855" "0" "5855" "0" "c.5855A>C" "r.(?)" "p.(Asn1952Thr)" "" "0000255087" "00006565" "30" "1173" "0" "1173" "0" "c.1173A>T" "r.(?)" "p.(Thr391=)" "" "0000256641" "00006565" "50" "3707" "0" "3707" "0" "c.3707A>G" "r.(?)" "p.(Tyr1236Cys)" "" "0000268705" "00006565" "10" "145" "-4" "145" "-4" "c.145-4del" "r.spl?" "p.?" "" "0000268706" "00006565" "30" "2292" "-6" "2292" "-6" "c.2292-6G>A" "r.(=)" "p.(=)" "" "0000268707" "00006565" "30" "2410" "0" "2410" "0" "c.2410G>A" "r.(?)" "p.(Ala804Thr)" "" "0000268708" "00006565" "10" "246" "0" "246" "0" "c.246T>G" "r.(?)" "p.(Thr82=)" "" "0000268709" "00006565" "30" "282" "0" "282" "0" "c.282T>G" "r.(?)" "p.(Leu94=)" "" "0000268710" "00006565" "10" "4157" "-13" "4157" "-13" "c.4157-13T>G" "r.(=)" "p.(=)" "" "0000268711" "00006565" "30" "4262" "0" "4262" "0" "c.4262C>T" "r.(?)" "p.(Ala1421Val)" "" "0000268712" "00006565" "30" "4385" "0" "4385" "0" "c.4385G>A" "r.(?)" "p.(Arg1462His)" "" "0000268713" "00006565" "10" "4387" "0" "4387" "0" "c.4387G>T" "r.(?)" "p.(Ala1463Ser)" "" "0000268714" "00006565" "30" "4543" "0" "4543" "0" "c.4543C>T" "r.(?)" "p.(Pro1515Ser)" "" "0000268716" "00006565" "30" "537" "14" "537" "14" "c.537+14T>A" "r.(=)" "p.(=)" "" "0000275370" "00006565" "30" "1269" "0" "1269" "0" "c.1269G>A" "r.(?)" "p.(Ala423=)" "" "0000275371" "00006565" "10" "246" "0" "246" "0" "c.246T>G" "r.(?)" "p.(Thr82=)" "" "0000275372" "00006565" "30" "2550" "-10" "2550" "-10" "c.2550-10T>A" "r.(=)" "p.(=)" "" "0000275373" "00006565" "50" "2708" "0" "2708" "0" "c.2708G>A" "r.(?)" "p.(Arg903Lys)" "" "0000275374" "00006565" "30" "2736" "0" "2736" "0" "c.2736G>A" "r.(?)" "p.(Arg912=)" "" "0000275375" "00006565" "10" "282" "0" "282" "0" "c.282T>G" "r.(?)" "p.(Leu94=)" "" "0000275376" "00006565" "30" "3594" "0" "3594" "0" "c.3594T>C" "r.(?)" "p.(Thr1198=)" "" "0000275377" "00006565" "50" "3824" "0" "3824" "0" "c.3824C>T" "r.(?)" "p.(Pro1275Leu)" "" "0000275378" "00006565" "30" "3942" "0" "3942" "0" "c.3942G>A" "r.(?)" "p.(Pro1314=)" "" "0000275379" "00006565" "10" "4157" "-13" "4157" "-13" "c.4157-13T>G" "r.(=)" "p.(=)" "" "0000275380" "00006565" "10" "4385" "0" "4385" "0" "c.4385G>A" "r.(?)" "p.(Arg1462His)" "" "0000275381" "00006565" "10" "4387" "0" "4387" "0" "c.4387G>T" "r.(?)" "p.(Ala1463Ser)" "" "0000275382" "00006565" "10" "4543" "0" "4543" "0" "c.4543C>T" "r.(?)" "p.(Pro1515Ser)" "" "0000275383" "00006565" "50" "4547" "0" "4547" "0" "c.4547G>A" "r.(?)" "p.(Arg1516His)" "" "0000275384" "00006565" "50" "4763" "0" "4763" "0" "c.4763G>A" "r.(?)" "p.(Arg1588His)" "" "0000275385" "00006565" "30" "4999" "-8" "4999" "-7" "c.4999-8_4999-7del" "r.(=)" "p.(=)" "" "0000275386" "00006565" "10" "5385" "9" "5385" "9" "c.5385+9G>A" "r.(=)" "p.(=)" "" "0000275387" "00006565" "30" "5646" "0" "5646" "0" "c.5646G>C" "r.(?)" "p.(Met1882Ile)" "" "0000275388" "00006565" "30" "5684" "0" "5684" "0" "c.5684C>T" "r.(?)" "p.(Thr1895Met)" "" "0000275389" "00006565" "30" "5707" "0" "5707" "0" "c.5707G>A" "r.(?)" "p.(Val1903Ile)" "" "0000275390" "00006565" "50" "5983" "0" "5983" "0" "c.5983G>C" "r.(?)" "p.(Val1995Leu)" "" "0000275391" "00006565" "50" "648" "0" "648" "0" "c.648G>T" "r.(?)" "p.(Glu216Asp)" "" "0000517903" "00006565" "50" "536" "0" "536" "0" "c.536T>C" "r.(?)" "p.(Leu179Ser)" "" "0000517904" "00006565" "10" "537" "26" "537" "26" "c.537+26dup" "r.(=)" "p.(=)" "" "0000517905" "00006565" "30" "932" "15" "932" "16" "c.932+15_932+16dup" "r.(=)" "p.(=)" "" "0000517906" "00006565" "10" "932" "16" "932" "16" "c.932+16del" "r.(=)" "p.(=)" "" "0000517907" "00006565" "30" "2062" "0" "2062" "0" "c.2062A>G" "r.(?)" "p.(Met688Val)" "" "0000517908" "00006565" "50" "2123" "0" "2123" "0" "c.2123C>T" "r.(?)" "p.(Ala708Val)" "" "0000517909" "00006565" "30" "2292" "-6" "2292" "-6" "c.2292-6G>A" "r.(=)" "p.(=)" "" "0000517910" "00006565" "50" "2369" "0" "2369" "0" "c.2369C>A" "r.(?)" "p.(Ser790Tyr)" "" "0000517911" "00006565" "30" "2369" "0" "2369" "0" "c.2369C>A" "r.(?)" "p.(Ser790Tyr)" "" "0000517912" "00006565" "30" "2369" "0" "2369" "0" "c.2369C>A" "r.(?)" "p.(Ser790Tyr)" "" "0000517913" "00006565" "30" "2941" "0" "2941" "0" "c.2941G>A" "r.(?)" "p.(Ala981Thr)" "" "0000517914" "00006565" "30" "3168" "0" "3168" "0" "c.3168A>T" "r.(?)" "p.(Gly1056=)" "" "0000517915" "00006565" "30" "3245" "0" "3245" "0" "c.3245C>T" "r.(?)" "p.(Thr1082Ile)" "" "0000517917" "00006565" "50" "3827" "0" "3827" "0" "c.3827T>G" "r.(?)" "p.(Val1276Gly)" "" "0000517918" "00006565" "30" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Glu1291Gly)" "" "0000517919" "00006565" "30" "3872" "0" "3872" "0" "c.3872A>G" "r.(?)" "p.(Glu1291Gly)" "" "0000517920" "00006565" "30" "3942" "0" "3942" "0" "c.3942G>A" "r.(?)" "p.(Pro1314=)" "" "0000517921" "00006565" "30" "4108" "0" "4108" "0" "c.4108A>C" "r.(?)" "p.(Ile1370Leu)" "" "0000517922" "00006565" "10" "4546" "0" "4546" "0" "c.4546C>T" "r.(?)" "p.(Arg1516Cys)" "" "0000517923" "00006565" "50" "4553" "0" "4553" "0" "c.4553C>T" "r.(?)" "p.(Ala1518Val)" "" "0000517924" "00006565" "10" "4813" "0" "4813" "0" "c.4813A>G" "r.(?)" "p.(Ile1605Val)" "" "0000517925" "00006565" "50" "4853" "0" "4853" "0" "c.4853C>T" "r.(?)" "p.(Ala1618Val)" "" "0000517926" "00006565" "10" "4885" "-18" "4885" "-18" "c.4885-18G>A" "r.(=)" "p.(=)" "" "0000517927" "00006565" "10" "4885" "-18" "4885" "-18" "c.4885-18G>A" "r.(=)" "p.(=)" "" "0000517928" "00006565" "30" "4885" "-12" "4885" "-12" "c.4885-12A>C" "r.(=)" "p.(=)" "" "0000517929" "00006565" "30" "4999" "-8" "4999" "-7" "c.4999-8_4999-7del" "r.(=)" "p.(=)" "" "0000517930" "00006565" "30" "5172" "0" "5172" "0" "c.5172C>T" "r.(?)" "p.(Tyr1724=)" "" "0000517931" "00006565" "50" "5218" "0" "5218" "0" "c.5218G>C" "r.(?)" "p.(Glu1740Gln)" "" "0000517932" "00006565" "30" "5218" "0" "5218" "0" "c.5218G>C" "r.(?)" "p.(Glu1740Gln)" "" "0000517933" "00006565" "10" "5385" "7" "5385" "7" "c.5385+7G>A" "r.(=)" "p.(=)" "" "0000517935" "00006565" "30" "5684" "0" "5684" "0" "c.5684C>T" "r.(?)" "p.(Thr1895Met)" "" "0000517937" "00006565" "30" "5855" "0" "5855" "0" "c.5855A>C" "r.(?)" "p.(Asn1952Thr)" "" "0000517938" "00006565" "30" "6111" "0" "6111" "0" "c.6111A>G" "r.(?)" "p.(Ala2037=)" "" "0000517939" "00006565" "30" "6147" "0" "6147" "0" "c.6147C>A" "r.(?)" "p.(Gly2049=)" "" "0000517940" "00006565" "50" "6169" "0" "6169" "0" "c.6169G>T" "r.(?)" "p.(Ala2057Ser)" "" "0000517941" "00006565" "30" "6240" "4" "6240" "4" "c.6240+4T>C" "r.spl?" "p.?" "" "0000517942" "00006565" "30" "6509" "0" "6509" "0" "c.6509T>G" "r.(?)" "p.(Leu2170Trp)" "" "0000517943" "00006565" "50" "6526" "-6" "6526" "-6" "c.6526-6T>A" "r.(=)" "p.(=)" "" "0000608328" "00006565" "30" "144" "19" "144" "19" "c.144+19G>A" "r.(=)" "p.(=)" "" "0000608329" "00006565" "30" "5526" "0" "5526" "0" "c.5526G>A" "r.(?)" "p.(Ser1842=)" "" "0000621179" "00006565" "50" "4463" "0" "4463" "0" "c.4463A>G" "r.(?)" "p.(Glu1488Gly)" "" "0000621180" "00006565" "30" "6651" "0" "6651" "0" "c.6651C>T" "r.(?)" "p.(Thr2217=)" "" "0000654803" "00006565" "10" "4885" "-19" "4885" "-19" "c.4885-19C>T" "r.(=)" "p.(=)" "" "0000654804" "00006565" "50" "5678" "0" "5678" "0" "c.5678G>A" "r.(?)" "p.(Arg1893Gln)" "" "0000676824" "00006565" "50" "2585" "0" "2585" "0" "c.2585T>G" "r.(?)" "p.(Leu862Trp)" "" "0000676825" "00006565" "50" "4199" "0" "4199" "0" "c.4199G>A" "r.(?)" "p.(Arg1400Gln)" "" "0000719188" "00006565" "50" "2904" "0" "2904" "0" "c.2904G>A" "r.(?)" "p.(Met968Ile)" "" "0000719189" "00006565" "30" "4341" "10" "4341" "10" "c.4341+10A>G" "r.(=)" "p.(=)" "" "0000800988" "00006565" "30" "1212" "0" "1212" "0" "c.1212C>T" "r.(?)" "p.(Ile404=)" "" "0000800989" "00006565" "50" "6592" "0" "6592" "0" "c.6592A>G" "r.(?)" "p.(Ile2198Val)" "" "0000858801" "00006565" "30" "2772" "6" "2772" "6" "c.2772+6G>A" "r.(=)" "p.(=)" "" "0000928713" "00006565" "10" "537" "26" "537" "26" "c.537+26del" "r.(=)" "p.(=)" "" "0000928714" "00006565" "50" "2021" "0" "2021" "0" "c.2021A>C" "r.(?)" "p.(Asp674Ala)" "" "0000975580" "00006565" "30" "6626" "-6" "6626" "-6" "c.6626-6T>C" "r.(=)" "p.(=)" "" "0000993296" "00006565" "10" "537" "26" "537" "26" "c.537+26dup" "r.(=)" "p.(=)" "" "0000993297" "00006565" "30" "5488" "0" "5488" "0" "c.5488C>T" "r.(?)" "p.(Arg1830Cys)" "" "0001051505" "00006565" "30" "2736" "0" "2736" "0" "c.2736G>A" "r.(?)" "p.(Arg912=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0