### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DMPK) # 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}}" "DMPK" "dystrophia myotonica-protein kinase" "19" "q13.3" "unknown" "NG_009784.1" "UD_132085260597" "" "https://www.LOVD.nl/DMPK" "" "1" "2933" "1760" "605377" "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/DMPK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-20 16:33:52" "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}}" "00006498" "DMPK" "transcript variant 2" "003" "NM_004409.3" "" "NP_004400.4" "" "" "" "-205" "2661" "1890" "46285815" "46272975" "" "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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01458" "DM1" "dystrophy, myotonic, type 1 (DM-1, Steinert disease)" "AD" "160900" "" "" "autosomal dominant" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DMPK" "01458" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00404888" "" "" "" "1" "" "00006" "{PMID:Nokelainen 2000:10927802}" "2-generation family, 1 affected (DM + EPM), DM affected father" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "patient" "00430670" "" "" "" "1" "" "00006" "{PMID:Granger 2022:36628841}" "" "F" "" "United States" "" "0" "" "" "" "Pat5" "00430672" "" "" "" "1" "" "00006" "{PMID:Granger 2022:36628841}" "" "M" "" "United States" "" "0" "" "" "" "Pat7" "00443820" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "prenatal indication abnormal ultrasound, NIPT" "M" "" "Netherlands" "" "0" "" "" "" "Pat673" "00464529" "" "" "" "1" "" "04820" "Swinkels et al. 2025, submitted" "" "M" "" "Netherlands" "" "" "" "" "" "" "00464544" "" "" "" "1" "" "04820" "Swinkels et al. 2025, submitted" "" "M" "" "Netherlands" "" "" "" "" "" "" "00464618" "" "" "" "1" "" "04820" "Swinkels et al. 2025, submitted" "" "M" "" "Netherlands" "" "" "" "" "" "" "00464619" "" "" "" "1" "" "04820" "Swinkels et al. 2025, submitted" "" "M" "" "Netherlands" "" "" "" "" "" "" "00464620" "" "" "" "1" "" "04820" "Swinkels et al. 2025, submitted" "" "M" "" "Netherlands" "" "" "" "" "" "" "00464621" "" "" "" "1" "" "04820" "Swinkels et al. 2025, submitted" "" "F" "" "Netherlands" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00404888" "00198" "00430670" "00244" "00430672" "00244" "00443820" "00198" "00464529" "01458" "00464544" "01458" "00464618" "01458" "00464619" "01458" "00464620" "01458" "00464621" "01458" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00244, 01458 ## Count = 10 "{{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}}" "0000297447" "00198" "00404888" "00006" "Complex" "28y" "see paper; ..." "" "" "" "" "" "" "" "" "DM1;EPM1A" "Unverricht-Lundborg progressive myoclonus epilepsy, myotonic dystrophy" "" "0000321445" "00244" "00430670" "00006" "Unknown" "19y" "myotonia, facial, hand muscle weakness; nornal CK level; electrodiagnosis myopathic, myotonic discharges" "" "" "" "" "" "" "" "" "DM1" "myotonic dystrophy" "" "0000321447" "00244" "00430672" "00006" "Unknown" "15y" "myotonia, dysphagia; nornal CK level; temporalis atrophy, mild facial weakness, mild-moderate dysarthria, mild weakness distal upper limb muscles (deep finger flexors); prominent bulbar dysfunction, aspiration pneumonia requiring gastrostomy placement" "" "" "" "" "" "" "" "" "DM1" "myotonic dystrophy" "" "0000333097" "00198" "00443820" "00006" "Unknown" "" "irregular tonus, retinal petechia, clubfeet, dysmorphic features" "" "" "" "" "" "" "" "" "DM1" "" "" "0000350543" "01458" "00464544" "04820" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350606" "01458" "00464529" "04820" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350608" "01458" "00464618" "04820" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350610" "01458" "00464619" "04820" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350611" "01458" "00464620" "04820" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350612" "01458" "00464621" "04820" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000406127" "00404888" "1" "00006" "00006" "2022-03-10 10:06:55" "" "" "Southern" "DNA" "" "" "0000432080" "00430670" "1" "00006" "00006" "2023-01-22 15:18:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000432082" "00430672" "1" "00006" "00006" "2023-01-22 15:18:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000445317" "00443820" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "arraySNP;SEQ-NG" "DNA" "" "gene panel" "0000466260" "00464544" "1" "04820" "04820" "2025-04-03 08:22:13" "" "" "PCR;PCRrp;SEQ;SEQ-PB" "DNA" "" "" "0000466263" "00464529" "1" "04820" "04820" "2025-04-03 11:44:28" "" "" "PCR;PCRrp;SEQ;SEQ-PB" "DNA" "" "" "0000466264" "00464618" "1" "04820" "04820" "2025-04-03 11:51:44" "" "" "PCR;PCRrp;SEQ;SEQ-PB" "DNA" "" "" "0000466265" "00464619" "1" "04820" "04820" "2025-04-03 11:56:53" "" "" "PCR;PCRrp;SEQ;SEQ-PB" "DNA" "" "" "0000466266" "00464620" "1" "04820" "04820" "2025-04-03 12:00:03" "" "" "PCR;PCRrp;SEQ;SEQ-PB" "DNA" "" "" "0000466267" "00464621" "1" "04820" "04820" "2025-04-03 12:03:05" "" "" "PCR;PCRrp;SEQ;SEQ-PB" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000406127" "CSTB" "0000406127" "DMPK" "0000466260" "DMPK" "0000466263" "DMPK" "0000466264" "DMPK" "0000466265" "DMPK" "0000466266" "DMPK" "0000466267" "DMPK" ## 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 = 137 "{{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}}" "0000247568" "0" "10" "19" "46281745" "46281745" "subst" "0.534447" "02330" "DMPK_000007" "g.46281745A>G" "" "" "" "DMPK(NM_001081563.2):c.611+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45778487A>G" "" "benign" "" "0000247604" "0" "10" "19" "46282503" "46282503" "subst" "0.143643" "02330" "DMPK_000013" "g.46282503A>C" "" "" "" "DMPK(NM_001081563.2):c.462+19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45779245A>C" "" "benign" "" "0000248456" "0" "10" "19" "46281745" "46281745" "subst" "0.534447" "02325" "DMPK_000007" "g.46281745A>G" "" "" "" "DMPK(NM_001081563.2):c.611+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45778487A>G" "" "benign" "" "0000249776" "0" "50" "19" "46282728" "46282728" "subst" "6.50015E-5" "02325" "DMPK_000010" "g.46282728A>G" "" "" "" "DMPK(NM_001081563.2):c.335T>C (p.M112T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45779470A>G" "" "VUS" "" "0000265369" "0" "10" "19" "46275976" "46275976" "subst" "0.138262" "02330" "DMPK_000005" "g.46275976G>C" "" "" "" "DMPK(NM_001081563.2):c.1297C>G (p.L433V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45772718G>C" "" "benign" "" "0000265370" "0" "10" "19" "46281876" "46281876" "subst" "0.00654871" "02330" "DMPK_000009" "g.46281876C>T" "" "" "" "DMPK(NM_001081563.2):c.486G>A (p.V162=), DMPK(NM_004409.5):c.456G>A (p.(Val152=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45778618C>T" "" "benign" "" "0000265371" "0" "10" "19" "46281828" "46281828" "subst" "0.00768737" "02330" "DMPK_000008" "g.46281828C>T" "" "" "" "DMPK(NM_001081563.2):c.534G>A (p.P178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45778570C>T" "" "benign" "" "0000267424" "0" "50" "19" "46275071" "46275071" "subst" "0.000794839" "02325" "DMPK_000004" "g.46275071C>A" "" "" "" "DMPK(NM_001081563.2):c.1490G>T (p.R497L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45771813C>A" "" "VUS" "" "0000267425" "0" "30" "19" "46273788" "46273788" "subst" "0.0006385" "02325" "DMPK_000002" "g.46273788G>A" "" "" "" "DMPK(NM_001081562.3):c.1829C>T (p.S610L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45770530G>A" "" "likely benign" "" "0000270821" "0" "30" "19" "46283586" "46283586" "subst" "0.00252174" "02326" "DMPK_000012" "g.46283586G>A" "" "" "" "DMPK(NM_001288764.1):c.233C>T (p.S78F), DMPK(NM_001288764.2):c.233C>T (p.S78F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45780328G>A" "" "likely benign" "" "0000298215" "0" "10" "19" "46269313" "46269313" "subst" "0.852591" "02325" "SIX5_000007" "g.46269313G>C" "" "" "" "SIX5(NM_175875.5):c.1666C>G (p.L556V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766055G>C" "" "benign" "" "0000298216" "0" "10" "19" "46268902" "46268902" "subst" "0.3189" "02325" "SIX5_000003" "g.46268902C>T" "" "" "" "SIX5(NM_175875.4):c.2077G>A (p.V693M), SIX5(NM_175875.5):c.2077G>A (p.V693M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765644C>T" "" "benign" "" "0000302116" "0" "10" "19" "46269000" "46269000" "subst" "0.000640541" "02326" "SIX5_000005" "g.46269000G>T" "" "" "" "SIX5(NM_175875.4):c.1979C>A (p.A660E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765742G>T" "" "benign" "" "0000302117" "0" "10" "19" "46268902" "46268902" "subst" "0.3189" "02326" "SIX5_000003" "g.46268902C>T" "" "" "" "SIX5(NM_175875.4):c.2077G>A (p.V693M), SIX5(NM_175875.5):c.2077G>A (p.V693M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765644C>T" "" "benign" "" "0000308162" "0" "30" "19" "46269323" "46269323" "subst" "0.000669406" "01943" "SIX5_000008" "g.46269323C>T" "" "" "" "SIX5(NM_175875.4):c.1656G>A (p.T552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766065C>T" "" "likely benign" "" "0000308163" "0" "30" "19" "46269206" "46269206" "subst" "0.00085385" "01943" "SIX5_000006" "g.46269206C>A" "" "" "" "SIX5(NM_175875.4):c.1773G>T (p.T591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765948C>A" "" "likely benign" "" "0000308164" "0" "50" "19" "46268964" "46268964" "subst" "2.03688E-5" "01943" "SIX5_000004" "g.46268964C>T" "" "" "" "SIX5(NM_175875.4):c.2015G>A (p.S672N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765706C>T" "" "VUS" "" "0000308165" "0" "30" "19" "46268891" "46268891" "subst" "2.03611E-5" "01943" "SIX5_000002" "g.46268891C>T" "" "" "" "SIX5(NM_175875.4):c.2088G>A (p.L696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765633C>T" "" "likely benign" "" "0000308166" "0" "30" "19" "46272022" "46272022" "subst" "8.3894E-6" "01943" "SIX5_000010" "g.46272022C>T" "" "" "" "SIX5(NM_175875.4):c.81G>A (p.E27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45768764C>T" "" "likely benign" "" "0000326618" "0" "50" "19" "46270126" "46270126" "subst" "0.00013676" "01804" "SIX5_000009" "g.46270126C>A" "" "" "" "SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766868C>A" "" "VUS" "" "0000326620" "0" "50" "19" "46272060" "46272060" "subst" "1.66157E-5" "01804" "SIX5_000011" "g.46272060C>A" "" "" "" "SIX5(NM_175875.4):c.43G>T (p.(Gly15Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45768802C>A" "" "VUS" "" "0000340122" "0" "10" "19" "46271371" "46271371" "subst" "0.00312069" "02327" "SIX5_000017" "g.46271371C>T" "" "" "" "SIX5(NM_175875.4):c.732G>A (p.Q244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45768113C>T" "" "benign" "" "0000341349" "0" "30" "19" "46270331" "46270331" "subst" "5.54693E-5" "02327" "SIX5_000016" "g.46270331C>T" "" "" "" "SIX5(NM_175875.4):c.886G>A (p.A296T, p.(Ala296Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45767073C>T" "" "likely benign" "" "0000348475" "0" "30" "19" "46269739" "46269739" "subst" "0" "02327" "SIX5_000015" "g.46269739G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766481G>A" "" "likely benign" "" "0000348530" "0" "10" "19" "46269076" "46269076" "subst" "0.505771" "02327" "SIX5_000012" "g.46269076G>A" "" "" "" "SIX5(NM_175875.4):c.1903C>T (p.P635S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765818G>A" "" "benign" "" "0000349564" "0" "30" "19" "46269324" "46269324" "subst" "0.000263631" "02327" "SIX5_000014" "g.46269324G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766066G>A" "" "likely benign" "" "0000350635" "0" "10" "19" "46268902" "46268902" "subst" "0.3189" "02327" "SIX5_000003" "g.46268902C>T" "" "" "" "SIX5(NM_175875.4):c.2077G>A (p.V693M), SIX5(NM_175875.5):c.2077G>A (p.V693M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765644C>T" "" "benign" "" "0000567757" "0" "30" "19" "46268996" "46268996" "subst" "4.5133E-5" "01943" "DMPK_000014" "g.46268996G>A" "" "" "" "SIX5(NM_175875.4):c.1983C>T (p.A661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45765738G>A" "" "likely benign" "" "0000567758" "0" "30" "19" "46269001" "46269001" "subst" "0.000644976" "01943" "DMPK_000015" "g.46269001C>T" "" "" "" "SIX5(NM_175875.4):c.1978G>A (p.A660T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45765743C>T" "" "likely benign" "" "0000567759" "0" "10" "19" "46269016" "46269016" "subst" "0.00081405" "01943" "DMPK_000016" "g.46269016G>A" "" "" "" "SIX5(NM_175875.4):c.1963C>T (p.L655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45765758G>A" "" "benign" "" "0000567760" "0" "10" "19" "46269076" "46269076" "subst" "0.505771" "02326" "SIX5_000012" "g.46269076G>A" "" "" "" "SIX5(NM_175875.4):c.1903C>T (p.P635S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45765818G>A" "" "benign" "" "0000567761" "0" "30" "19" "46269294" "46269294" "subst" "0" "02327" "DMPK_000017" "g.46269294A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766036A>G" "" "likely benign" "" "0000567762" "0" "30" "19" "46269362" "46269362" "subst" "0.000552295" "01943" "DMPK_000018" "g.46269362G>A" "" "" "" "SIX5(NM_175875.4):c.1617C>T (p.F539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766104G>A" "" "likely benign" "" "0000567763" "0" "30" "19" "46269719" "46269719" "subst" "6.01839E-5" "02327" "DMPK_000019" "g.46269719C>T" "" "" "" "SIX5(NM_175875.4):c.1498G>A (p.G500R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766461C>T" "" "likely benign" "" "0000567765" "0" "50" "19" "46269791" "46269791" "subst" "0" "01943" "DMPK_000021" "g.46269791G>A" "" "" "" "SIX5(NM_175875.4):c.1426C>T (p.P476S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766533G>A" "" "VUS" "" "0000567766" "0" "50" "19" "46270270" "46270270" "subst" "3.06048E-5" "01943" "DMPK_000022" "g.46270270G>C" "" "" "" "SIX5(NM_175875.4):c.947C>G (p.P316R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45767012G>C" "" "VUS" "" "0000567767" "0" "30" "19" "46270331" "46270331" "subst" "5.54693E-5" "01943" "SIX5_000016" "g.46270331C>T" "" "" "" "SIX5(NM_175875.4):c.886G>A (p.A296T, p.(Ala296Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45767073C>T" "" "likely benign" "" "0000567768" "0" "30" "19" "46271371" "46271371" "subst" "0.00312069" "01943" "SIX5_000017" "g.46271371C>T" "" "" "" "SIX5(NM_175875.4):c.732G>A (p.Q244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768113C>T" "" "likely benign" "" "0000567769" "0" "30" "19" "46271890" "46271890" "subst" "0" "01943" "DMPK_000023" "g.46271890C>A" "" "" "" "SIX5(NM_175875.4):c.213G>T (p.G71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768632C>A" "" "likely benign" "" "0000567770" "0" "30" "19" "46273821" "46273821" "subst" "0" "01804" "DMPK_000024" "g.46273821G>C" "" "" "" "DMPK(NM_001081560.1):c.1800C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45770563G>C" "" "likely benign" "" "0000567772" "0" "30" "19" "46274661" "46274661" "subst" "0" "02325" "DMPK_000026" "g.46274661G>A" "" "" "" "DMPK(NM_001081563.2):c.1631-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45771403G>A" "" "likely benign" "" "0000567773" "0" "30" "19" "46274887" "46274887" "subst" "0.000101621" "01943" "DMPK_000027" "g.46274887T>G" "" "" "" "DMPK(NM_001081563.2):c.1569A>C (p.L523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45771629T>G" "" "likely benign" "" "0000567774" "0" "30" "19" "46274916" "46274916" "subst" "1.2202E-5" "01804" "DMPK_000028" "g.46274916G>A" "" "" "" "DMPK(NM_004409.3):c.1510C>T (p.(Arg504Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45771658G>A" "" "likely benign" "" "0000567775" "0" "50" "19" "46275054" "46275054" "subst" "0.000681239" "01943" "DMPK_000029" "g.46275054G>A" "" "" "" "DMPK(NM_001081563.2):c.1507C>T (p.R503C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45771796G>A" "" "VUS" "" "0000567776" "0" "10" "19" "46280838" "46280838" "subst" "0.000854393" "01943" "DMPK_000030" "g.46280838G>C" "" "" "" "DMPK(NM_001081563.2):c.923C>G (p.S308C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45777580G>C" "" "benign" "" "0000567777" "0" "10" "19" "46280917" "46280917" "subst" "0.00572202" "01943" "DMPK_000006" "g.46280917G>A" "" "" "" "DMPK(NM_001081563.2):c.912+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45777659G>A" "" "benign" "" "0000567778" "0" "30" "19" "46280917" "46280917" "subst" "0.00572202" "02326" "DMPK_000006" "g.46280917G>A" "" "" "" "DMPK(NM_001081563.2):c.912+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45777659G>A" "" "likely benign" "" "0000567779" "0" "50" "19" "46281794" "46281794" "subst" "0" "01943" "DMPK_000031" "g.46281794C>T" "" "" "" "DMPK(NM_001081563.2):c.568G>A (p.V190I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45778536C>T" "" "VUS" "" "0000567780" "0" "30" "19" "46282545" "46282545" "subst" "1.21844E-5" "01804" "DMPK_000032" "g.46282545C>T" "" "" "" "DMPK(NM_001081560.1):c.409G>A (p.(Ala137Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45779287C>T" "" "likely benign" "" "0000567781" "0" "50" "19" "46282590" "46282590" "subst" "1.21835E-5" "01804" "DMPK_000033" "g.46282590C>T" "" "" "" "DMPK(NM_001081560.1):c.364G>A (p.(Val122Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45779332C>T" "" "VUS" "" "0000567782" "0" "50" "19" "46283136" "46283136" "dup" "0" "01943" "DMPK_000034" "g.46283136dup" "" "" "" "DMPK(NM_001081563.2):c.188dup (p.(Ala64Serfs*9)), DMPK(NM_001081563.2):c.188dupC (p.A64Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45779878dup" "" "VUS" "" "0000567783" "0" "50" "19" "46283189" "46283189" "dup" "0" "01943" "DMPK_000035" "g.46283189dup" "" "" "" "DMPK(NM_001081563.1):c.133dupC (p.(Leu45ProfsTer9)), DMPK(NM_001081563.2):c.133dupC (p.L45Pfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45779931dup" "" "VUS" "" "0000567784" "0" "30" "19" "46283189" "46283189" "dup" "0" "01804" "DMPK_000035" "g.46283189dup" "" "" "" "DMPK(NM_001081563.1):c.133dupC (p.(Leu45ProfsTer9)), DMPK(NM_001081563.2):c.133dupC (p.L45Pfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45779931dup" "" "likely benign" "" "0000567785" "0" "10" "19" "46283581" "46283581" "subst" "0.00291582" "01943" "DMPK_000036" "g.46283581C>T" "" "" "" "DMPK(NM_001288764.1):c.238G>A (p.A80T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45780323C>T" "" "benign" "" "0000567786" "0" "30" "19" "46283586" "46283586" "subst" "0.00252174" "01943" "DMPK_000012" "g.46283586G>A" "" "" "" "DMPK(NM_001288764.1):c.233C>T (p.S78F), DMPK(NM_001288764.2):c.233C>T (p.S78F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45780328G>A" "" "likely benign" "" "0000567787" "0" "30" "19" "46285526" "46285526" "subst" "0" "01804" "DMPK_000037" "g.46285526G>A" "" "" "" "DMPK(NM_001081560.1):c.85C>T (p.(Leu29Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45782268G>A" "" "likely benign" "" "0000617701" "0" "30" "19" "46270126" "46270126" "subst" "0.00013676" "01943" "SIX5_000009" "g.46270126C>A" "" "" "" "SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766868C>A" "" "likely benign" "" "0000617702" "0" "30" "19" "46271877" "46271877" "subst" "0" "01943" "DMPK_000041" "g.46271877C>G" "" "" "" "SIX5(NM_175875.4):c.226G>C (p.A76P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768619C>G" "" "likely benign" "" "0000617703" "0" "30" "19" "46271879" "46271879" "subst" "0" "01943" "DMPK_000042" "g.46271879T>G" "" "" "" "SIX5(NM_175875.4):c.224A>C (p.E75A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768621T>G" "" "likely benign" "" "0000617704" "0" "30" "19" "46272060" "46272060" "subst" "2.49236E-5" "01804" "DMPK_000043" "g.46272060C>T" "" "" "" "SIX5(NM_175875.4):c.43G>A (p.(Gly15Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768802C>T" "" "likely benign" "" "0000617705" "0" "30" "19" "46280799" "46280799" "subst" "0.000281587" "02326" "DMPK_000044" "g.46280799C>T" "" "" "" "DMPK(NM_001081563.2):c.962G>A (p.R321Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45777541C>T" "" "likely benign" "" "0000617706" "0" "50" "19" "46283136" "46283136" "dup" "0" "02325" "DMPK_000034" "g.46283136dup" "" "" "" "DMPK(NM_001081563.2):c.188dup (p.(Ala64Serfs*9)), DMPK(NM_001081563.2):c.188dupC (p.A64Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45779878dup" "" "VUS" "" "0000617707" "0" "30" "19" "46283258" "46283258" "subst" "0.000108331" "01943" "DMPK_000045" "g.46283258C>A" "" "" "" "DMPK(NM_001081563.2):c.60G>T (p.W20C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45780000C>A" "" "likely benign" "" "0000624039" "0" "30" "19" "46269792" "46269792" "subst" "0" "01943" "DMPK_000038" "g.46269792C>A" "" "" "" "SIX5(NM_175875.4):c.1425G>T (p.L475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766534C>A" "" "likely benign" "" "0000624040" "0" "90" "19" "46270031" "46270031" "subst" "0" "01943" "DMPK_000039" "g.46270031C>A" "" "" "" "SIX5(NM_175875.4):c.1186G>T (p.E396*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766773C>A" "" "pathogenic" "" "0000624041" "0" "30" "19" "46270203" "46270203" "subst" "0.000193483" "01943" "DMPK_000040" "g.46270203G>T" "" "" "" "SIX5(NM_175875.4):c.1014C>A (p.L338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766945G>T" "" "likely benign" "" "0000658613" "0" "30" "19" "46281873" "46281873" "subst" "4.0664E-6" "01943" "DMPK_000047" "g.46281873G>A" "" "" "" "DMPK(NM_001081563.2):c.489C>T (p.G163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45778615G>A" "" "likely benign" "" "0000658614" "0" "50" "19" "46289898" "46289898" "subst" "0" "01943" "DMPK_000048" "g.46289898G>T" "" "" "" "DMWD(NM_004943.2):c.856C>A (p.P286T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45786640G>T" "" "VUS" "" "0000681452" "0" "30" "19" "46269298" "46269298" "subst" "8.34996E-6" "01804" "DMPK_000049" "g.46269298T>C" "" "" "" "SIX5(NM_175875.4):c.1681A>G (p.(Ile561Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681453" "0" "30" "19" "46270126" "46270126" "subst" "0.00013676" "02326" "SIX5_000009" "g.46270126C>A" "" "" "" "SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681454" "0" "50" "19" "46271520" "46271520" "subst" "0" "01943" "DMPK_000050" "g.46271520G>A" "" "" "" "SIX5(NM_175875.4):c.583C>T (p.P195S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681455" "0" "50" "19" "46274288" "46274288" "subst" "0" "01943" "DMPK_000051" "g.46274288G>A" "" "" "" "DMPK(NM_001081563.2):c.1708C>T (p.Q570*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681456" "0" "50" "19" "46285467" "46285467" "subst" "1.89211E-5" "01943" "DMPK_000052" "g.46285467G>A" "" "" "" "DMPK(NM_001288764.1):c.163C>T (p.R55*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681457" "0" "50" "19" "46285602" "46285602" "subst" "0.000308531" "01943" "DMPK_000053" "g.46285602G>A" "" "" "" "DMPK(NM_001288764.1):c.28C>T (p.R10*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692842" "0" "10" "19" "46271951" "46271956" "dup" "0" "01943" "DMPK_000054" "g.46271951_46271956dup" "" "" "" "SIX5(NM_175875.4):c.156_161dupCGGGGC (p.G55_A56dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692843" "0" "30" "19" "46278281" "46278281" "subst" "9.79488E-5" "02325" "DMPK_000055" "g.46278281C>T" "" "" "" "DMPK(NM_001081563.2):c.1188G>A (p.S396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692844" "0" "50" "19" "46285533" "46285533" "subst" "0.000300802" "01943" "DMPK_000056" "g.46285533G>A" "" "" "" "DMPK(NM_001288764.1):c.97C>T (p.R33*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727446" "0" "30" "19" "46269035" "46269035" "subst" "0.000133783" "01943" "DMPK_000057" "g.46269035C>T" "" "" "" "SIX5(NM_175875.4):c.1944G>A (p.P648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727447" "0" "30" "19" "46269719" "46269719" "subst" "6.01839E-5" "02326" "DMPK_000019" "g.46269719C>T" "" "" "" "SIX5(NM_175875.4):c.1498G>A (p.G500R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727448" "0" "30" "19" "46270406" "46270406" "subst" "0.000445786" "01943" "DMPK_000058" "g.46270406C>T" "" "" "" "SIX5(NM_175875.4):c.811G>A (p.D271N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727449" "0" "30" "19" "46271467" "46271467" "subst" "5.36618E-5" "02326" "DMPK_000059" "g.46271467G>A" "" "" "" "SIX5(NM_175875.4):c.636C>T (p.S212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727450" "0" "30" "19" "46274243" "46274243" "subst" "0" "01943" "DMPK_000060" "g.46274243G>A" "" "" "" "DMPK(NM_001081563.2):c.1753C>T (p.L585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727451" "0" "30" "19" "46281385" "46281385" "subst" "0.000405203" "02325" "DMPK_000061" "g.46281385C>T" "" "" "" "DMPK(NM_001081563.2):c.705G>A (p.T235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808947" "0" "10" "19" "46269016" "46269016" "subst" "0.00081405" "02326" "DMPK_000016" "g.46269016G>A" "" "" "" "SIX5(NM_175875.4):c.1963C>T (p.L655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808948" "0" "30" "19" "46269206" "46269206" "subst" "0.00085385" "02326" "SIX5_000006" "g.46269206C>A" "" "" "" "SIX5(NM_175875.4):c.1773G>T (p.T591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808949" "0" "50" "19" "46270033" "46270033" "subst" "0" "01943" "DMPK_000062" "g.46270033A>G" "" "" "" "SIX5(NM_175875.4):c.1184T>C (p.L395P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808950" "0" "10" "19" "46271951" "46271956" "dup" "0" "02326" "DMPK_000054" "g.46271951_46271956dup" "" "" "" "SIX5(NM_175875.4):c.156_161dupCGGGGC (p.G55_A56dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808951" "0" "50" "19" "46275054" "46275054" "subst" "0.000681239" "02325" "DMPK_000029" "g.46275054G>A" "" "" "" "DMPK(NM_001081563.2):c.1507C>T (p.R503C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808952" "0" "50" "19" "46281386" "46281386" "subst" "0.00052613" "01943" "DMPK_000063" "g.46281386G>A" "" "" "" "DMPK(NM_001081563.2):c.704C>T (p.T235M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808953" "0" "50" "19" "46283031" "46283031" "subst" "0" "01943" "DMPK_000064" "g.46283031C>T" "" "" "" "DMPK(NM_001081563.2):c.282+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808954" "0" "50" "19" "46285494" "46285494" "subst" "3.36675E-5" "02325" "DMPK_000065" "g.46285494G>A" "" "" "" "DMPK(NM_001288764.2):c.136C>T (p.R46*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000842356" "11" "90" "19" "46273220" "46274617" "ins" "0" "00006" "DMPK_000066" "g.(46273220_46274617)insN[(600_?)]" "" "{PMID:Nokelainen 2000:10927802}" "" "BamHI >0.6 kb expansion" "" "Germline" "" "" "0" "" "" "g.(45769962_45771359)insN[(600_?)]" "" "pathogenic (dominant)" "" "0000855633" "0" "30" "19" "46271728" "46271728" "subst" "0.00113052" "02326" "DMPK_000068" "g.46271728C>G" "" "" "" "SIX5(NM_175875.4):c.375G>C (p.P125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855634" "0" "50" "19" "46285671" "46285671" "subst" "0.000282844" "02325" "DMPK_000071" "g.46285671G>A" "" "" "" "DMPK(NM_001288764.2):c.-42C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866187" "0" "30" "19" "46269127" "46269127" "subst" "0" "01943" "DMPK_000067" "g.46269127A>G" "" "" "" "SIX5(NM_175875.4):c.1852T>C (p.S618P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866188" "0" "30" "19" "46278261" "46278261" "subst" "0.000175051" "01943" "DMPK_000069" "g.46278261G>A" "" "" "" "DMPK(NM_001081563.2):c.1208C>T (p.P403L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866189" "0" "30" "19" "46280717" "46280717" "subst" "2.44264E-5" "02326" "DMPK_000070" "g.46280717G>A" "" "" "" "DMPK(NM_001081563.2):c.1044C>T (p.F348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895058" "0" "30" "19" "46269350" "46269350" "subst" "2.9327E-5" "02326" "DMPK_000072" "g.46269350G>A" "" "" "" "SIX5(NM_175875.4):c.1629C>T (p.N543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895059" "0" "30" "19" "46270338" "46270338" "subst" "8.51557E-6" "02326" "DMPK_000073" "g.46270338T>C" "" "" "" "SIX5(NM_175875.4):c.879A>G (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895060" "0" "30" "19" "46271727" "46271727" "subst" "0" "02326" "DMPK_000074" "g.46271727C>T" "" "" "" "SIX5(NM_175875.4):c.376G>A (p.V126M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915256" "0" "30" "19" "46270203" "46270203" "subst" "0.000193483" "02326" "DMPK_000040" "g.46270203G>T" "" "" "" "SIX5(NM_175875.4):c.1014C>A (p.L338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915257" "0" "30" "19" "46278297" "46278297" "subst" "0.0014698" "02325" "DMPK_000075" "g.46278297G>A" "" "" "" "DMPK(NM_001081563.2):c.1177-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917415" "1" "90" "19" "46273465" "46273524" "repeat" "0" "00006" "DMPK_000076" "g.46273465_46273524GCA[263]" "" "{PMID:Granger 2022:36628841}" "" "CTG[263]" "" "Germline" "" "" "0" "" "" "g.45770207_45770266GCA[263]" "" "pathogenic (dominant)" "" "0000917417" "21" "90" "19" "46273465" "46273524" "repeat" "0" "00006" "DMPK_000077" "g.46273465_46273524GCA[723]" "" "{PMID:Granger 2022:36628841}" "" "CTG[723]" "mother carries CTG[70]" "Germline" "" "" "0" "" "" "g.45770207_45770266GCA[263]" "" "pathogenic (dominant)" "" "0000931076" "0" "50" "19" "46273828" "46273828" "subst" "0" "02325" "DMPK_000078" "g.46273828G>A" "" "" "" "DMPK(NM_001081563.2):c.1838C>T (p.A613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952231" "0" "90" "19" "" "" "" "" "00006" "DMPK_000079" "g.46273465_46273524GCA[(150_?)]" "" "{PMID:Imafidon 2021:34136434}" "" "CTG (n>150) repeat" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.45770207_45770266GCA[(150_?)]" "" "pathogenic (dominant)" "" "0000969805" "0" "50" "19" "46285518" "46285518" "subst" "1.72273E-5" "02325" "DMPK_000080" "g.46285518G>A" "" "" "" "DMPK(NM_001288764.2):c.112C>T (p.R38C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983535" "0" "30" "19" "46268790" "46268790" "subst" "6.90832E-5" "01804" "SIX5_000021" "g.46268790G>A" "" "" "" "SIX5(NM_175875.5):c.2189C>T (p.(Ser730Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983536" "0" "30" "19" "46269362" "46269362" "subst" "0.000552295" "02326" "DMPK_000018" "g.46269362G>A" "" "" "" "SIX5(NM_175875.4):c.1617C>T (p.F539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983537" "0" "30" "19" "46269851" "46269851" "subst" "0.000525399" "02326" "DMPK_000081" "g.46269851G>A" "" "" "" "SIX5(NM_175875.4):c.1366C>T (p.L456F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983538" "0" "50" "19" "46270423" "46270423" "subst" "4.35749E-6" "01804" "DMPK_000082" "g.46270423G>A" "" "" "" "SIX5(NM_175875.5):c.804-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983539" "0" "30" "19" "46285523" "46285523" "subst" "1.30116E-5" "01804" "DMPK_000083" "g.46285523G>A" "" "" "" "DMPK(NM_001288764.2):c.107C>T (p.(Pro36Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004892" "0" "30" "19" "46269235" "46269235" "subst" "0" "01804" "DMPK_000084" "g.46269235C>T" "" "" "" "SIX5(NM_175875.4):c.1744G>A (p.(Gly582Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004893" "0" "50" "19" "46269622" "46269622" "subst" "0" "01804" "DMPK_000085" "g.46269622G>A" "" "" "" "SIX5(NM_175875.4):c.1595C>T (p.(Ser532Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004894" "0" "50" "19" "46270331" "46270331" "subst" "5.54693E-5" "01804" "SIX5_000016" "g.46270331C>T" "" "" "" "SIX5(NM_175875.4):c.886G>A (p.A296T, p.(Ala296Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004895" "0" "50" "19" "46271375" "46271375" "subst" "0" "01804" "DMPK_000086" "g.46271375G>A" "" "" "" "SIX5(NM_175875.4):c.728C>T (p.(Thr243Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004896" "0" "50" "19" "46271966" "46271968" "dup" "0" "01804" "DMPK_000087" "g.46271966_46271968dup" "" "" "" "SIX5(NM_175875.4):c.147_149dupGGC (p.(Ala50dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004897" "0" "50" "19" "46281767" "46281767" "subst" "0" "01804" "DMPK_000088" "g.46281767G>A" "" "" "" "DMPK(NM_004409.3):c.565C>T (p.(Leu189Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004898" "0" "50" "19" "46283055" "46283055" "subst" "0" "01804" "DMPK_000089" "g.46283055C>T" "" "" "" "DMPK(NM_004409.3):c.233G>A (p.(Gly78Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004899" "0" "30" "19" "46283173" "46283173" "subst" "0" "01804" "DMPK_000090" "g.46283173C>T" "" "" "" "DMPK(NM_001081563.1):c.145G>A (p.(Ala49Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015810" "0" "50" "19" "46282604" "46282604" "subst" "4.06157E-6" "02325" "DMPK_000091" "g.46282604C>T" "" "" "" "DMPK(NM_001081563.2):c.380G>A (p.R127H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001030179" "0" "10" "19" "46273465" "46273524" "delins" "0" "04820" "DMPK_000092" "g.46273465_46273524delinsGCA[5]GCGGCA[14]GCA[4]" "" "Swinkels et al. 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45770207_45770266delinsGCA[5]GCGGCA[14]GCA[4]" "" "likely benign" "" "0001030181" "0" "10" "19" "46273465" "46273524" "delins" "0" "04820" "DMPK_000093" "g.46273465_46273524delinsGCA[5]GCGGCA[13]GCA[6]" "" "Swinkels et al. 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45770207_45770266delinsGCA[5]GCGGCA[13]GCA[6]" "" "likely benign" "" "0001030182" "0" "10" "19" "46273465" "46273524" "delins" "0" "04820" "DMPK_000094" "g.46273465_46273524delinsGCA[5]GCGGCA[14]GCA[6]" "" "Swinkels et al. 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45770207_45770266delinsGCA[5]GCGGCA[14]GCA[6]" "" "likely benign" "" "0001030183" "0" "10" "19" "46273465" "46273524" "delins" "0" "04820" "DMPK_000095" "g.46273465_46273524delinsGCA[5]GCGGCA[16]GCA[4]" "" "Swinkels et al. 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45770207_45770266delinsGCA[5]GCGGCA[16]GCA[4]" "" "likely benign" "" "0001030184" "0" "10" "19" "46273465" "46273524" "delins" "0" "04820" "DMPK_000096" "g.46273465_46273524delinsGCA[5]GCGGCA[15]GCA[6]" "" "Swinkels et al. 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45770207_45770266delinsGCA[5]GCGGCA[15]GCA[6]" "" "likely benign" "" "0001030185" "0" "10" "19" "46273465" "46273524" "delins" "0" "04820" "DMPK_000097" "g.46273465_46273524delinsGCA[3]GCGGCA[17]GCA[6]" "" "Swinkels et al. 2025, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.45770207_45770266delinsGCA[3]GCGGCA[17]GCA[6]" "" "likely benign" "" "0001043045" "0" "50" "19" "46269745" "46269745" "subst" "0" "01804" "DMPK_000098" "g.46269745A>C" "" "" "" "SIX5(NM_175875.5):c.1472T>G (p.(Val491Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043046" "0" "30" "19" "46269827" "46269827" "subst" "0.000118245" "02326" "DMPK_000099" "g.46269827T>A" "" "" "" "SIX5(NM_175875.4):c.1390A>T (p.T464S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043047" "0" "50" "19" "46270383" "46270383" "subst" "5.54234E-5" "01804" "DMPK_000100" "g.46270383G>T" "" "" "" "SIX5(NM_175875.5):c.834C>A (p.(Asp278Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043048" "0" "10" "19" "46271371" "46271371" "subst" "0.00312069" "02326" "SIX5_000017" "g.46271371C>T" "" "" "" "SIX5(NM_175875.4):c.732G>A (p.Q244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043049" "0" "30" "19" "46281876" "46281876" "subst" "0.00654871" "01804" "DMPK_000009" "g.46281876C>T" "" "" "" "DMPK(NM_001081563.2):c.486G>A (p.V162=), DMPK(NM_004409.5):c.456G>A (p.(Val152=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043050" "0" "30" "19" "46283029" "46283029" "subst" "5.01027E-6" "01804" "DMPK_000101" "g.46283029G>C" "" "" "" "DMPK(NM_004409.5):c.252+7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043051" "0" "30" "19" "46285497" "46285497" "subst" "2.94407E-5" "01804" "DMPK_000102" "g.46285497G>A" "" "" "" "DMPK(NM_001288764.2):c.133C>T (p.(Leu45Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056720" "0" "50" "19" "46281130" "46281130" "dup" "0" "01804" "DMPK_000103" "g.46281130dup" "" "" "" "DMPK(NM_004409.5):c.677dup (p.(Arg227Alafs*34))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056721" "0" "30" "19" "46283136" "46283136" "dup" "0" "01804" "DMPK_000034" "g.46283136dup" "" "" "" "DMPK(NM_001081563.2):c.188dup (p.(Ala64Serfs*9)), DMPK(NM_001081563.2):c.188dupC (p.A64Sfs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056722" "0" "30" "19" "46285514" "46285514" "subst" "2.57593E-5" "01804" "DMPK_000104" "g.46285514G>A" "" "" "" "DMPK(NM_004409.5):c.97C>T (p.(His33Tyr))" "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 DMPK ## Count = 137 "{{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}}" "0000247568" "00006498" "10" "581" "6" "581" "6" "c.581+6T>C" "r.(=)" "p.(=)" "" "0000247604" "00006498" "10" "432" "19" "432" "19" "c.432+19T>G" "r.(=)" "p.(=)" "" "0000248456" "00006498" "10" "581" "6" "581" "6" "c.581+6T>C" "r.(=)" "p.(=)" "" "0000249776" "00006498" "50" "305" "0" "305" "0" "c.305T>C" "r.(?)" "p.(Met102Thr)" "" "0000265369" "00006498" "10" "1267" "0" "1267" "0" "c.1267C>G" "r.(?)" "p.(Leu423Val)" "" "0000265370" "00006498" "10" "456" "0" "456" "0" "c.456G>A" "r.(?)" "p.(Val152=)" "" "0000265371" "00006498" "10" "504" "0" "504" "0" "c.504G>A" "r.(?)" "p.(Pro168=)" "" "0000267424" "00006498" "50" "1460" "0" "1460" "0" "c.1460G>T" "r.(?)" "p.(Arg487Leu)" "" "0000267425" "00006498" "30" "1848" "0" "1848" "0" "c.1848C>T" "r.(?)" "p.(Leu616=)" "" "0000270821" "00006498" "30" "161" "-459" "161" "-459" "c.161-459C>T" "r.(=)" "p.(=)" "" "0000298215" "00006498" "10" "6323" "0" "6323" "0" "c.*4433C>G" "r.(=)" "p.(=)" "" "0000298216" "00006498" "10" "6734" "0" "6734" "0" "c.*4844G>A" "r.(=)" "p.(=)" "" "0000302116" "00006498" "10" "6636" "0" "6636" "0" "c.*4746C>A" "r.(=)" "p.(=)" "" "0000302117" "00006498" "10" "6734" "0" "6734" "0" "c.*4844G>A" "r.(=)" "p.(=)" "" "0000308162" "00006498" "30" "6313" "0" "6313" "0" "c.*4423G>A" "r.(=)" "p.(=)" "" "0000308163" "00006498" "30" "6430" "0" "6430" "0" "c.*4540G>T" "r.(=)" "p.(=)" "" "0000308164" "00006498" "50" "6672" "0" "6672" "0" "c.*4782G>A" "r.(=)" "p.(=)" "" "0000308165" "00006498" "30" "6745" "0" "6745" "0" "c.*4855G>A" "r.(=)" "p.(=)" "" "0000308166" "00006498" "30" "3614" "0" "3614" "0" "c.*1724G>A" "r.(=)" "p.(=)" "" "0000326618" "00006498" "50" "5510" "0" "5510" "0" "c.*3620G>T" "r.(=)" "p.(=)" "" "0000326620" "00006498" "50" "3576" "0" "3576" "0" "c.*1686G>T" "r.(=)" "p.(=)" "" "0000340122" "00006498" "10" "4265" "0" "4265" "0" "c.*2375G>A" "r.(=)" "p.(=)" "" "0000341349" "00006498" "30" "5305" "0" "5305" "0" "c.*3415G>A" "r.(=)" "p.(=)" "" "0000348475" "00006498" "30" "5897" "0" "5897" "0" "c.*4007C>T" "r.(=)" "p.(=)" "" "0000348530" "00006498" "10" "6560" "0" "6560" "0" "c.*4670C>T" "r.(=)" "p.(=)" "" "0000349564" "00006498" "30" "6312" "0" "6312" "0" "c.*4422C>T" "r.(=)" "p.(=)" "" "0000350635" "00006498" "10" "6734" "0" "6734" "0" "c.*4844G>A" "r.(=)" "p.(=)" "" "0000567757" "00006498" "30" "6640" "0" "6640" "0" "c.*4750C>T" "r.(=)" "p.(=)" "" "0000567758" "00006498" "30" "6635" "0" "6635" "0" "c.*4745G>A" "r.(=)" "p.(=)" "" "0000567759" "00006498" "10" "6620" "0" "6620" "0" "c.*4730C>T" "r.(=)" "p.(=)" "" "0000567760" "00006498" "10" "6560" "0" "6560" "0" "c.*4670C>T" "r.(=)" "p.(=)" "" "0000567761" "00006498" "30" "6342" "0" "6342" "0" "c.*4452T>C" "r.(=)" "p.(=)" "" "0000567762" "00006498" "30" "6274" "0" "6274" "0" "c.*4384C>T" "r.(=)" "p.(=)" "" "0000567763" "00006498" "30" "5917" "0" "5917" "0" "c.*4027G>A" "r.(=)" "p.(=)" "" "0000567765" "00006498" "50" "5845" "0" "5845" "0" "c.*3955C>T" "r.(=)" "p.(=)" "" "0000567766" "00006498" "50" "5366" "0" "5366" "0" "c.*3476C>G" "r.(=)" "p.(=)" "" "0000567767" "00006498" "30" "5305" "0" "5305" "0" "c.*3415G>A" "r.(=)" "p.(=)" "" "0000567768" "00006498" "30" "4265" "0" "4265" "0" "c.*2375G>A" "r.(=)" "p.(=)" "" "0000567769" "00006498" "30" "3746" "0" "3746" "0" "c.*1856G>T" "r.(=)" "p.(=)" "" "0000567770" "00006498" "30" "1815" "0" "1815" "0" "c.1815C>G" "r.(?)" "p.(Gly605=)" "" "0000567772" "00006498" "30" "1601" "-7" "1601" "-7" "c.1601-7C>T" "r.(=)" "p.(=)" "" "0000567773" "00006498" "30" "1539" "0" "1539" "0" "c.1539A>C" "r.(?)" "p.(Leu513=)" "" "0000567774" "00006498" "30" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Arg504Cys)" "" "0000567775" "00006498" "50" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493Cys)" "" "0000567776" "00006498" "10" "893" "0" "893" "0" "c.893C>G" "r.(?)" "p.(Ser298Cys)" "" "0000567777" "00006498" "10" "882" "8" "882" "8" "c.882+8C>T" "r.(=)" "p.(=)" "" "0000567778" "00006498" "30" "882" "8" "882" "8" "c.882+8C>T" "r.(=)" "p.(=)" "" "0000567779" "00006498" "50" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Val180Ile)" "" "0000567780" "00006498" "30" "409" "0" "409" "0" "c.409G>A" "r.(?)" "p.(Ala137Thr)" "" "0000567781" "00006498" "50" "364" "0" "364" "0" "c.364G>A" "r.(?)" "p.(Val122Met)" "" "0000567782" "00006498" "50" "161" "-3" "161" "-3" "c.161-3dup" "r.spl?" "p.?" "" "0000567783" "00006498" "50" "161" "-58" "161" "-58" "c.161-58dup" "r.(=)" "p.(=)" "" "0000567784" "00006498" "30" "161" "-58" "161" "-58" "c.161-58dup" "r.(=)" "p.(=)" "" "0000567785" "00006498" "10" "161" "-454" "161" "-454" "c.161-454G>A" "r.(=)" "p.(=)" "" "0000567786" "00006498" "30" "161" "-459" "161" "-459" "c.161-459C>T" "r.(=)" "p.(=)" "" "0000567787" "00006498" "30" "85" "0" "85" "0" "c.85C>T" "r.(?)" "p.(Leu29Phe)" "" "0000617701" "00006498" "30" "5510" "0" "5510" "0" "c.*3620G>T" "r.(=)" "p.(=)" "" "0000617702" "00006498" "30" "3759" "0" "3759" "0" "c.*1869G>C" "r.(=)" "p.(=)" "" "0000617703" "00006498" "30" "3757" "0" "3757" "0" "c.*1867A>C" "r.(=)" "p.(=)" "" "0000617704" "00006498" "30" "3576" "0" "3576" "0" "c.*1686G>A" "r.(=)" "p.(=)" "" "0000617705" "00006498" "30" "932" "0" "932" "0" "c.932G>A" "r.(?)" "p.(Arg311Gln)" "" "0000617706" "00006498" "50" "161" "-3" "161" "-3" "c.161-3dup" "r.spl?" "p.?" "" "0000617707" "00006498" "30" "161" "-131" "161" "-131" "c.161-131G>T" "r.(=)" "p.(=)" "" "0000624039" "00006498" "30" "5844" "0" "5844" "0" "c.*3954G>T" "r.(=)" "p.(=)" "" "0000624040" "00006498" "90" "5605" "0" "5605" "0" "c.*3715G>T" "r.(=)" "p.(=)" "" "0000624041" "00006498" "30" "5433" "0" "5433" "0" "c.*3543C>A" "r.(=)" "p.(=)" "" "0000658613" "00006498" "30" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Gly153=)" "" "0000658614" "00006498" "50" "-4288" "0" "-4288" "0" "c.-4288C>A" "r.(?)" "p.(=)" "" "0000681452" "00006498" "30" "6338" "0" "6338" "0" "c.*4448A>G" "r.(=)" "p.(=)" "" "0000681453" "00006498" "30" "5510" "0" "5510" "0" "c.*3620G>T" "r.(=)" "p.(=)" "" "0000681454" "00006498" "50" "4116" "0" "4116" "0" "c.*2226C>T" "r.(=)" "p.(=)" "" "0000681455" "00006498" "50" "1678" "0" "1678" "0" "c.1678C>T" "r.(?)" "p.(Gln560Ter)" "" "0000681456" "00006498" "50" "144" "0" "144" "0" "c.144C>T" "r.(?)" "p.(Ala48=)" "" "0000681457" "00006498" "50" "9" "0" "9" "0" "c.9C>T" "r.(?)" "p.(Ala3=)" "" "0000692842" "00006498" "10" "3689" "0" "3694" "0" "c.*1799_*1804dup" "r.(=)" "p.(=)" "" "0000692843" "00006498" "30" "1158" "0" "1158" "0" "c.1158G>A" "r.(?)" "p.(Ser386=)" "" "0000692844" "00006498" "50" "78" "0" "78" "0" "c.78C>T" "r.(?)" "p.(Leu26=)" "" "0000727446" "00006498" "30" "6601" "0" "6601" "0" "c.*4711G>A" "r.(=)" "p.(=)" "" "0000727447" "00006498" "30" "5917" "0" "5917" "0" "c.*4027G>A" "r.(=)" "p.(=)" "" "0000727448" "00006498" "30" "5230" "0" "5230" "0" "c.*3340G>A" "r.(=)" "p.(=)" "" "0000727449" "00006498" "30" "4169" "0" "4169" "0" "c.*2279C>T" "r.(=)" "p.(=)" "" "0000727450" "00006498" "30" "1723" "0" "1723" "0" "c.1723C>T" "r.(?)" "p.(Leu575=)" "" "0000727451" "00006498" "30" "675" "0" "675" "0" "c.675G>A" "r.(?)" "p.(Thr225=)" "" "0000808947" "00006498" "10" "6620" "0" "6620" "0" "c.*4730C>T" "r.(=)" "p.(=)" "" "0000808948" "00006498" "30" "6430" "0" "6430" "0" "c.*4540G>T" "r.(=)" "p.(=)" "" "0000808949" "00006498" "50" "5603" "0" "5603" "0" "c.*3713T>C" "r.(=)" "p.(=)" "" "0000808950" "00006498" "10" "3689" "0" "3694" "0" "c.*1799_*1804dup" "r.(=)" "p.(=)" "" "0000808951" "00006498" "50" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Arg493Cys)" "" "0000808952" "00006498" "50" "674" "0" "674" "0" "c.674C>T" "r.(?)" "p.(Thr225Met)" "" "0000808953" "00006498" "50" "252" "5" "252" "5" "c.252+5G>A" "r.spl?" "p.?" "" "0000808954" "00006498" "50" "117" "0" "117" "0" "c.117C>T" "r.(?)" "p.(Ser39=)" "" "0000842356" "00006498" "90" "1638" "0" "2416" "0" "c.(1638_*526)insN[(600_?)]" "r.(?)" "p.(=)" "13_15" "0000855633" "00006498" "30" "3908" "0" "3908" "0" "c.*2018G>C" "r.(=)" "p.(=)" "" "0000855634" "00006498" "50" "-61" "0" "-61" "0" "c.-61C>T" "r.(?)" "p.(=)" "" "0000866187" "00006498" "30" "6509" "0" "6509" "0" "c.*4619T>C" "r.(=)" "p.(=)" "" "0000866188" "00006498" "30" "1178" "0" "1178" "0" "c.1178C>T" "r.(?)" "p.(Pro393Leu)" "" "0000866189" "00006498" "30" "1014" "0" "1014" "0" "c.1014C>T" "r.(?)" "p.(Phe338=)" "" "0000895058" "00006498" "30" "6286" "0" "6286" "0" "c.*4396C>T" "r.(=)" "p.(=)" "" "0000895059" "00006498" "30" "5298" "0" "5298" "0" "c.*3408A>G" "r.(=)" "p.(=)" "" "0000895060" "00006498" "30" "3909" "0" "3909" "0" "c.*2019G>A" "r.(=)" "p.(=)" "" "0000915256" "00006498" "30" "5433" "0" "5433" "0" "c.*3543C>A" "r.(=)" "p.(=)" "" "0000915257" "00006498" "30" "1147" "-5" "1147" "-5" "c.1147-5C>T" "r.spl?" "p.?" "" "0000917415" "00006498" "90" "2114" "0" "2173" "0" "c.*224_*283CTG[263]" "r.?" "p.?" "" "0000917417" "00006498" "90" "2114" "0" "2173" "0" "c.*224_*283CTG[723]" "r.?" "p.?" "" "0000931076" "00006498" "50" "1808" "0" "1808" "0" "c.1808C>T" "r.(?)" "p.(Ala603Val)" "" "0000952231" "00006498" "90" "" "0" "" "0" "c.*224_*283CTG[(150_?)]" "r.?" "p.?" "" "0000969805" "00006498" "50" "93" "0" "93" "0" "c.93C>T" "r.(?)" "p.(=)" "" "0000983535" "00006498" "30" "6846" "0" "6846" "0" "c.*4956C>T" "r.(=)" "p.(=)" "" "0000983536" "00006498" "30" "6274" "0" "6274" "0" "c.*4384C>T" "r.(=)" "p.(=)" "" "0000983537" "00006498" "30" "5785" "0" "5785" "0" "c.*3895C>T" "r.(=)" "p.(=)" "" "0000983538" "00006498" "50" "5213" "0" "5213" "0" "c.*3323C>T" "r.(=)" "p.(=)" "" "0000983539" "00006498" "30" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(=)" "" "0001004892" "00006498" "30" "6401" "0" "6401" "0" "c.*4511G>A" "r.(=)" "p.(=)" "" "0001004893" "00006498" "50" "6014" "0" "6014" "0" "c.*4124C>T" "r.(=)" "p.(=)" "" "0001004894" "00006498" "50" "5305" "0" "5305" "0" "c.*3415G>A" "r.(=)" "p.(=)" "" "0001004895" "00006498" "50" "4261" "0" "4261" "0" "c.*2371C>T" "r.(=)" "p.(=)" "" "0001004896" "00006498" "50" "3680" "0" "3682" "0" "c.*1790_*1792dup" "r.(=)" "p.(=)" "" "0001004897" "00006498" "50" "565" "0" "565" "0" "c.565C>T" "r.(?)" "p.(Leu189Phe)" "" "0001004898" "00006498" "50" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Gly78Glu)" "" "0001004899" "00006498" "30" "161" "-46" "161" "-46" "c.161-46G>A" "r.(=)" "p.(=)" "" "0001015810" "00006498" "50" "350" "0" "350" "0" "c.350G>A" "r.(?)" "p.(Arg117His)" "" "0001030179" "00006498" "10" "2114" "0" "2173" "0" "c.*224_*283CTG[4]CCGCTG[14]CTG[5]" "r.*224_*283CTG[4]CCGCTG[14]CTG[5]" "p.(=?)" "" "0001030181" "00006498" "10" "2114" "0" "2173" "0" "c.*224_*283CTG[6]CCGCTG[13]CTG[5]" "r.*224_*283CTG[6]CCGCTG[13]CTG[5]" "p.(=?)" "" "0001030182" "00006498" "10" "2114" "0" "2173" "0" "c.*224_*283CTG[6]CCGCTG[14]CTG[5]" "r.*224_*283CTG[6]CCGCTG[14]CTG[5]" "p.(=?)" "" "0001030183" "00006498" "10" "2114" "0" "2173" "0" "c.*224_*283CTG[4]CCGCTG[16]CTG[5]" "r.*224_*283CTG[4]CCGCTG[16]CTG[5]" "p.(=?)" "" "0001030184" "00006498" "10" "2114" "0" "2173" "0" "c.*224_*283CTG[6]CCGCTG[15]CTG[5]" "r.*224_*283CTG[6]CCGCTG[15]CTG[5]" "p.=?" "" "0001030185" "00006498" "10" "2114" "0" "2173" "0" "c.*224_*283CTG[6]CCGCTG[17]CTG[3]" "r.*224_*283CTG[6]CCGCTG[17]CTG[3]" "p.(=?)" "" "0001043045" "00006498" "50" "5891" "0" "5891" "0" "c.*4001T>G" "r.(=)" "p.(=)" "" "0001043046" "00006498" "30" "5809" "0" "5809" "0" "c.*3919A>T" "r.(=)" "p.(=)" "" "0001043047" "00006498" "50" "5253" "0" "5253" "0" "c.*3363C>A" "r.(=)" "p.(=)" "" "0001043048" "00006498" "10" "4265" "0" "4265" "0" "c.*2375G>A" "r.(=)" "p.(=)" "" "0001043049" "00006498" "30" "456" "0" "456" "0" "c.456G>A" "r.(?)" "p.(Val152=)" "" "0001043050" "00006498" "30" "252" "7" "252" "7" "c.252+7C>G" "r.(=)" "p.(=)" "" "0001043051" "00006498" "30" "114" "0" "114" "0" "c.114C>T" "r.(?)" "p.(=)" "" "0001056720" "00006498" "50" "677" "0" "677" "0" "c.677dup" "r.(?)" "p.(Arg227Alafs*34)" "" "0001056721" "00006498" "30" "161" "-3" "161" "-3" "c.161-3dup" "r.spl?" "p.?" "" "0001056722" "00006498" "30" "97" "0" "97" "0" "c.97C>T" "r.(?)" "p.(His33Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000406127" "0000842356" "0000432080" "0000917415" "0000432082" "0000917417" "0000445317" "0000952231" "0000466260" "0001030179" "0000466263" "0001030181" "0000466264" "0001030182" "0000466265" "0001030183" "0000466266" "0001030184" "0000466267" "0001030185"