### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MYLK) # 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}}" "MYLK" "myosin light chain kinase" "3" "q21" "unknown" "NG_029111.1" "UD_132118829909" "" "https://www.LOVD.nl/MYLK" "" "1" "7590" "4638" "600922" "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/MYLK_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-04-21 17:40:25" "00000" "2025-10-08 15:32:03" ## 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}}" "00014161" "MYLK" "transcript variant 1" "004" "NM_053025.3" "" "NP_444253.3" "" "" "" "-282" "7554" "5745" "123603149" "123331143" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "00510" "AAT7" "aneurysm, aortic, thoracic, familial, type 7 (AAT7)" "AD" "613780" "" "" "" "00006" "2014-08-20 13:49:03" "00006" "2021-12-10 21:51:32" "00511" "-" "asthma, susceptibility to" "AD" "600807" "" "" "" "00006" "2014-08-20 13:51:24" "00006" "2021-12-10 21:51:32" "00884" "LDS" "Loeys-Dietz syndrome (LDS)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04172" "CM" "cardiomyopathy (CM)" "" "" "" "" "" "00006" "2015-01-20 15:34:26" "00006" "2016-03-20 12:15:43" "05118" "-" "aneurysms, arterial" "" "" "" "" "" "00006" "2016-01-13 01:22:29" "" "" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" "06550" "MMIHS" "Megacystis-microcolon-intestinal hypoperistalsis syndrome" "AR" "249210" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MYLK" "00510" "MYLK" "06550" ## Individuals ## Do not remove or alter this header ## ## Count = 23 "{{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}}" "00019761" "" "" "" "1" "" "00769" "" "" "" "" "" "" "0" "" "" "" "" "00064768" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "F" "?" "Switzerland" "00y04m" "0" "" "" "Europe" "SIDS031" "00065138" "" "" "" "1" "" "01602" "{PMID:Neubauer 2017:28074886} {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "M" "?" "Switzerland" "00y04m" "0" "" "" "Europe" "SIDS087" "00103739" "" "" "" "1" "" "01602" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "M" "?" "Switzerland" "38y" "0" "" "" "Europe" "SUDS001" "00163990" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00269780" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00293189" "" "" "" "78" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295197" "" "" "" "25" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304917" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00320287" "" "" "" "1" "" "00006" "{PMID:Isbister 2020:32931854}" "" "M" "" "Australia" "" "0" "" "" "Asia-NE" "BEM1" "00398123" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat61" "00398130" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat69" "00398169" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat114" "00398170" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat115" "00398171" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat116" "00398172" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat117" "00398173" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat118" "00398174" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat119" "00398175" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat120" "00398176" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat121" "00398177" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat122" "00398178" "" "" "" "1" "" "00006" "{PMID:Overwater 2018:29907982}" "" "" "" "Netherlands" "" "0" "" "" "" "Pat123" "00398334" "" "" "" "3" "" "00006" "{PMID:Schubert 2016:26854089}" "3-generation family, affected father/2 sons" "M" "" "United States" "" "0" "" "" "" "Fam3PatII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 23 "{{individualid}}" "{{diseaseid}}" "00019761" "00511" "00064768" "02087" "00065138" "02087" "00103739" "05166" "00163990" "00510" "00269780" "05118" "00293189" "00198" "00295197" "00198" "00304917" "00198" "00320287" "04172" "00398123" "00198" "00398130" "00198" "00398169" "00198" "00398170" "00198" "00398171" "00198" "00398172" "00198" "00398173" "00198" "00398174" "00198" "00398175" "00198" "00398176" "00198" "00398177" "00198" "00398178" "00198" "00398334" "00884" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00510, 00511, 00884, 02087, 04172, 05118, 05166, 06550 ## Count = 18 "{{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}}" "0000017564" "00511" "00019761" "00769" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000050927" "02087" "00064768" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000051243" "02087" "00065138" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000081677" "05166" "00103739" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000242315" "04172" "00320287" "00006" "Unknown" "19y" "see paper; ..., survived sudden cardiac arrest" "" "" "" "" "" "" "" "" "" "cardiomyopathy" "" "0000291233" "00198" "00398123" "00006" "Unknown" "66y" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291240" "00198" "00398130" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291279" "00198" "00398169" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291280" "00198" "00398170" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291281" "00198" "00398171" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291282" "00198" "00398172" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291283" "00198" "00398173" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291284" "00198" "00398174" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291285" "00198" "00398175" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291286" "00198" "00398176" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291287" "00198" "00398177" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291288" "00198" "00398178" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "thoracic aortic disorder" "" "0000291457" "00884" "00398334" "00006" "Unknown" "59y" "see paper; ..., mild TAA" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 23 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019746" "00019761" "1" "00769" "00769" "2014-08-19 23:30:32" "00769" "2014-08-20 20:06:23" "SEQ" "DNA" "Blood" "" "0000064909" "00064768" "1" "01602" "01602" "2016-05-11 15:25:47" "" "" "SEQ-NG-I" "DNA" "" "" "0000065289" "00065138" "1" "01602" "01602" "2016-05-19 14:10:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000104196" "00103739" "1" "01602" "01602" "2017-04-18 11:32:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000164856" "00163990" "1" "01741" "01741" "2018-05-03 14:50:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000270935" "00269780" "1" "01741" "01741" "2019-12-06 12:27:28" "" "" "SEQ-NG" "DNA" "" "" "0000294357" "00293189" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296365" "00295197" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306046" "00304917" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000321473" "00320287" "1" "00006" "00006" "2020-11-27 09:16:20" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000399366" "00398123" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "MLPA" "DNA" "" "" "0000399373" "00398130" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399412" "00398169" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399413" "00398170" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399414" "00398171" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399415" "00398172" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399416" "00398173" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399417" "00398174" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399418" "00398175" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399419" "00398176" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399420" "00398177" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399421" "00398178" "1" "00006" "00006" "2021-12-31 15:48:44" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000399580" "00398334" "1" "00006" "00006" "2022-01-04 15:36:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{geneid}}" "0000019746" "MYLK" "0000164856" "MYLK" "0000270935" "MYLK" "0000321473" "MYH7" "0000321473" "MYLK" "0000399366" "MYLK" "0000399373" "COL3A1" "0000399373" "MYLK" "0000399412" "MYLK" "0000399413" "MYLK" "0000399414" "MYLK" "0000399415" "MYLK" "0000399416" "MYLK" "0000399417" "MYLK" "0000399418" "MYLK" "0000399419" "MYLK" "0000399420" "MYLK" "0000399421" "MYLK" ## 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 = 473 "{{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}}" "0000040191" "0" "70" "3" "123457893" "123457893" "subst" "0.949225" "00769" "MYLK_000001" "g.123457893G>A" "" "" "" "" "By in silico prediction, this variant may change mRNA global structure. Also, this variant may change the mRNA local structure around translation initiation site. Changes potentially alter protein expression level. Predicted mRNA structure was computed by RNAfold program (Vienna package)." "Somatic" "" "rs9840993" "0" "" "" "g.123739046G>A" "" "likely pathogenic" "" "0000096564" "0" "50" "3" "123471207" "123471207" "subst" "8.94265E-5" "01602" "MYLK_000002" "g.123471207C>T" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Germline" "?" "rs141131535" "0" "" "" "g.123752360C>T" "" "VUS" "" "0000096964" "0" "50" "3" "123451769" "123451769" "subst" "0" "01602" "MYLK_000003" "g.123451769G>A" "" "{PMID:Neubauer 2017:28074886}, {DOI:Neubauer 2017:10.1038/ejhg.2016.199}" "" "" "" "Unknown" "?" "" "0" "" "" "g.123732922G>A" "" "VUS" "" "0000168852" "0" "50" "3" "123385148" "123385148" "subst" "6.09172E-5" "01602" "MYLK_000004" "g.123385148C>T" "" "{PMID:Neubauer 2018:29350269}, {DOI:Neubauer 2018:10.1007/s00414-018-1775-y}" "" "g.223002G>A" "" "Unknown" "" "rs139817477" "0" "" "" "g.123666301C>T" "" "VUS" "" "0000249900" "0" "10" "3" "123357037" "123357037" "subst" "0.21784" "02329" "MYLK_000015" "g.123357037A>G" "" "" "" "MYLK(NM_053025.3):c.4842T>C (p.N1614=), MYLK(NM_053025.4):c.4842T>C (p.N1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123638190A>G" "" "benign" "" "0000249901" "0" "10" "3" "123368013" "123368013" "subst" "0.229966" "02329" "MYLK_000029" "g.123368013A>G" "" "" "" "MYLK(NM_053025.3):c.4317T>C (p.D1439=), MYLK(NM_053025.4):c.4317T>C (p.D1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649166A>G" "" "benign" "" "0000249916" "0" "10" "3" "123419733" "123419733" "subst" "0.113609" "02329" "MYLK_000074" "g.123419733A>G" "" "" "" "MYLK(NM_053025.3):c.2582T>C (p.L861P), MYLK(NM_053025.4):c.2582T>C (p.L861P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700886A>G" "" "benign" "" "0000249918" "0" "10" "3" "123453061" "123453061" "subst" "0.113641" "02329" "MYLK_000114" "g.123453061A>G" "" "" "" "MYLK(NM_053025.3):c.782T>C (p.V261A), MYLK(NM_053025.4):c.782T>C (p.V261A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123734214A>G" "" "benign" "" "0000249921" "0" "10" "3" "123444785" "123444785" "subst" "0.164933" "02329" "MYLK_000098" "g.123444785A>T" "" "" "" "MYLK(NM_053025.3):c.1651+6T>A, MYLK(NM_053025.4):c.1651+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123725938A>T" "" "benign" "" "0000250535" "0" "50" "3" "123366265" "123366265" "subst" "0" "02329" "MYLK_000025" "g.123366265A>C" "" "" "" "MYLK(NM_053025.4):c.4425T>G (p.F1475L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123647418A>C" "" "VUS" "" "0000253124" "0" "10" "3" "123357037" "123357037" "subst" "0.21784" "01943" "MYLK_000015" "g.123357037A>G" "" "" "" "MYLK(NM_053025.3):c.4842T>C (p.N1614=), MYLK(NM_053025.4):c.4842T>C (p.N1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123638190A>G" "" "benign" "" "0000253125" "0" "10" "3" "123368013" "123368013" "subst" "0.229966" "01943" "MYLK_000029" "g.123368013A>G" "" "" "" "MYLK(NM_053025.3):c.4317T>C (p.D1439=), MYLK(NM_053025.4):c.4317T>C (p.D1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649166A>G" "" "benign" "" "0000253140" "0" "10" "3" "123419733" "123419733" "subst" "0.113609" "01943" "MYLK_000074" "g.123419733A>G" "" "" "" "MYLK(NM_053025.3):c.2582T>C (p.L861P), MYLK(NM_053025.4):c.2582T>C (p.L861P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700886A>G" "" "benign" "" "0000253142" "0" "10" "3" "123453061" "123453061" "subst" "0.113641" "01943" "MYLK_000114" "g.123453061A>G" "" "" "" "MYLK(NM_053025.3):c.782T>C (p.V261A), MYLK(NM_053025.4):c.782T>C (p.V261A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123734214A>G" "" "benign" "" "0000253145" "0" "10" "3" "123444785" "123444785" "subst" "0.164933" "01943" "MYLK_000098" "g.123444785A>T" "" "" "" "MYLK(NM_053025.3):c.1651+6T>A, MYLK(NM_053025.4):c.1651+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123725938A>T" "" "benign" "" "0000255214" "0" "30" "3" "123366284" "123366284" "subst" "0" "01943" "MYLK_000026" "g.123366284A>G" "" "" "" "MYLK(NM_053025.3):c.4416-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123647437A>G" "" "likely benign" "" "0000256489" "0" "50" "3" "123456234" "123456234" "subst" "0" "01943" "MYLK_000117" "g.123456234A>C" "" "" "" "MYLK(NM_053025.3):c.745T>G (p.S249A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123737387A>C" "" "VUS" "" "0000256629" "0" "50" "3" "123366222" "123366222" "subst" "0" "01943" "MYLK_000024" "g.123366222A>G" "" "" "" "MYLK(NM_053025.3):c.4468T>C (p.W1490R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123647375A>G" "" "VUS" "" "0000296193" "0" "10" "3" "123452838" "123452838" "subst" "0.662291" "02325" "MYLK_000111" "g.123452838G>A" "" "" "" "MYLK(NM_053025.3):c.1005C>T (p.T335=), MYLK(NM_053025.4):c.1005C>T (p.T335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733991G>A" "" "benign" "" "0000296194" "0" "10" "3" "123451773" "123451773" "subst" "0.999699" "02325" "MYLK_000103" "g.123451773G>C" "" "" "" "MYLK(NM_053025.4):c.1486C>G (p.L496V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123732926G>C" "" "benign" "" "0000296195" "0" "10" "3" "123440967" "123440967" "subst" "0.980669" "02325" "MYLK_000090" "g.123440967G>A" "" "" "" "MYLK(NM_053025.4):c.1804+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123722120G>A" "" "benign" "" "0000296196" "0" "10" "3" "123418913" "123418913" "subst" "0.98515" "02325" "MYLK_000056" "g.123418913G>A" "" "" "" "MYLK(NM_053025.4):c.3402C>T (p.N1134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700066G>A" "" "benign" "" "0000298469" "0" "10" "3" "123452838" "123452838" "subst" "0.662291" "02329" "MYLK_000111" "g.123452838G>A" "" "" "" "MYLK(NM_053025.3):c.1005C>T (p.T335=), MYLK(NM_053025.4):c.1005C>T (p.T335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733991G>A" "" "benign" "" "0000298470" "0" "10" "3" "123451932" "123451932" "subst" "0.0140247" "02329" "MYLK_000104" "g.123451932G>A" "" "" "" "MYLK(NM_053025.3):c.1327C>T (p.P443S), MYLK(NM_053025.4):c.1327C>T (p.P443S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733085G>A" "" "benign" "" "0000298471" "0" "10" "3" "123451773" "123451773" "subst" "0.999699" "02329" "MYLK_000103" "g.123451773G>C" "" "" "" "MYLK(NM_053025.4):c.1486C>G (p.L496V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123732926G>C" "" "benign" "" "0000298472" "0" "10" "3" "123451727" "123451727" "subst" "0.00340371" "02329" "MYLK_000101" "g.123451727G>A" "" "" "" "MYLK(NM_053025.3):c.1516+16C>T, MYLK(NM_053025.4):c.1516+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123732880G>A" "" "benign" "" "0000298473" "0" "30" "3" "123451743" "123451743" "subst" "0.00117068" "02329" "MYLK_000102" "g.123451743T>C" "" "" "" "MYLK(NM_053025.3):c.1516A>G (p.R506G), MYLK(NM_053025.4):c.1516A>G (p.R506G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123732896T>C" "" "likely benign" "" "0000298474" "0" "10" "3" "123440967" "123440967" "subst" "0.980669" "02329" "MYLK_000090" "g.123440967G>A" "" "" "" "MYLK(NM_053025.4):c.1804+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123722120G>A" "" "benign" "" "0000298475" "0" "30" "3" "123427758" "123427758" "subst" "4.06296E-6" "02329" "MYLK_000082" "g.123427758G>A" "" "" "" "MYLK(NM_053025.4):c.1943-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123708911G>A" "" "likely benign" "" "0000298476" "0" "30" "3" "123427615" "123427615" "subst" "5.68565E-5" "02329" "MYLK_000080" "g.123427615C>T" "" "" "" "MYLK(NM_053025.3):c.2070G>A (p.T690=), MYLK(NM_053025.4):c.2070G>A (p.T690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123708768C>T" "" "likely benign" "" "0000298477" "0" "30" "3" "123471344" "123471344" "subst" "0.000321606" "02329" "MYLK_000132" "g.123471344G>A" "" "" "" "MYLK(NM_053025.3):c.207C>T (p.N69=), MYLK(NM_053025.4):c.207C>T (p.N69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123752497G>A" "" "likely benign" "" "0000298478" "0" "10" "3" "123427584" "123427584" "subst" "0.00138563" "02329" "MYLK_000079" "g.123427584C>T" "" "" "" "MYLK(NM_053025.3):c.2101G>A (p.A701T, p.(Ala701Thr)), MYLK(NM_053025.4):c.2101G>A (p.A701T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123708737C>T" "" "benign" "" "0000298479" "0" "10" "3" "123419782" "123419782" "subst" "0.0272939" "02329" "MYLK_000076" "g.123419782G>A" "" "" "" "MYLK(NM_053025.3):c.2533C>T (p.R845C), MYLK(NM_053025.4):c.2533C>T (p.R845C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700935G>A" "" "benign" "" "0000298480" "0" "30" "3" "123419717" "123419717" "subst" "5.7066E-5" "02329" "MYLK_000073" "g.123419717G>A" "" "" "" "MYLK(NM_053025.3):c.2598C>T (p.G866=), MYLK(NM_053025.4):c.2598C>T (p.G866=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700870G>A" "" "likely benign" "" "0000298481" "0" "10" "3" "123419687" "123419687" "subst" "0.000942836" "02329" "MYLK_000072" "g.123419687G>A" "" "" "" "MYLK(NM_053025.4):c.2628C>T (p.R876=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700840G>A" "" "benign" "" "0000298482" "0" "10" "3" "123419573" "123419573" "subst" "0.100589" "02329" "MYLK_000069" "g.123419573G>T" "" "" "" "MYLK(NM_053025.3):c.2742C>A (p.D914E), MYLK(NM_053025.4):c.2742C>A (p.D914E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700726G>T" "" "benign" "" "0000298483" "0" "10" "3" "123419288" "123419288" "subst" "0.0711839" "02329" "MYLK_000066" "g.123419288C>T" "" "" "" "MYLK(NM_053025.3):c.3027G>A (p.E1009=), MYLK(NM_053025.4):c.3027G>A (p.E1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700441C>T" "" "benign" "" "0000298484" "0" "10" "3" "123419073" "123419073" "subst" "0.000536067" "02329" "MYLK_000063" "g.123419073T>C" "" "" "" "MYLK(NM_053025.3):c.3242A>G (p.H1081R), MYLK(NM_053025.4):c.3242A>G (p.H1081R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700226T>C" "" "benign" "" "0000298485" "0" "10" "3" "123418913" "123418913" "subst" "0.98515" "02329" "MYLK_000056" "g.123418913G>A" "" "" "" "MYLK(NM_053025.4):c.3402C>T (p.N1134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700066G>A" "" "benign" "" "0000298486" "0" "30" "3" "123401084" "123401084" "subst" "0.000237088" "02329" "MYLK_000046" "g.123401084C>T" "" "" "" "MYLK(NM_053025.4):c.3639G>A (p.V1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123682237C>T" "" "likely benign" "" "0000298487" "0" "10" "3" "123401060" "123401060" "subst" "0.0340593" "02329" "MYLK_000045" "g.123401060C>T" "" "" "" "MYLK(NM_053025.3):c.3652+11G>A, MYLK(NM_053025.4):c.3652+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123682213C>T" "" "benign" "" "0000298488" "0" "30" "3" "123458840" "123458840" "subst" "0.00138518" "02329" "MYLK_000129" "g.123458840C>T" "" "" "" "MYLK(NM_053025.3):c.382G>A (p.(Ala128Thr)), MYLK(NM_053025.4):c.382G>A (p.A128T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123739993C>T" "" "likely benign" "" "0000298489" "0" "30" "3" "123458839" "123458839" "subst" "0.0170741" "02329" "MYLK_000128" "g.123458839G>A" "" "" "" "MYLK(NM_053025.4):c.383C>T (p.A128V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123739992G>A" "" "likely benign" "" "0000298490" "0" "30" "3" "123376290" "123376290" "subst" "0" "02329" "MYLK_000038" "g.123376290G>T" "" "" "" "MYLK(NM_053025.4):c.3986-15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123657443G>T" "" "likely benign" "" "0000298491" "0" "10" "3" "123458811" "123458811" "subst" "0.0102922" "02329" "MYLK_000127" "g.123458811G>C" "" "" "" "MYLK(NM_053025.3):c.411C>G (p.S137=), MYLK(NM_053025.4):c.411C>G (p.S137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123739964G>C" "" "benign" "" "0000298493" "0" "10" "3" "123368051" "123368051" "dup" "0" "02329" "MYLK_000031" "g.123368051dup" "" "" "" "MYLK(NM_053025.3):c.4289-3dupC, MYLK(NM_053025.4):c.4289-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649204dup" "" "benign" "" "0000298494" "0" "30" "3" "123368045" "123368045" "subst" "0.000944818" "02329" "MYLK_000033" "g.123368045G>C" "" "" "" "MYLK(NM_053025.3):c.4289-4C>G, MYLK(NM_053025.4):c.4289-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649198G>C" "" "likely benign" "" "0000298495" "0" "10" "3" "123368050" "123368050" "subst" "0.00107442" "02329" "MYLK_000035" "g.123368050G>C" "" "" "" "MYLK(NM_053025.3):c.4289-9C>G, MYLK(NM_053025.4):c.4289-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649203G>C" "" "benign" "" "0000298496" "0" "10" "3" "123359363" "123359363" "subst" "0.024021" "02329" "MYLK_000021" "g.123359363C>T" "" "" "" "MYLK(NM_053025.3):c.4620-12G>A, MYLK(NM_053025.4):c.4620-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640516C>T" "" "benign" "" "0000298497" "0" "10" "3" "123359369" "123359369" "subst" "0.00274236" "02329" "MYLK_000022" "g.123359369C>T" "" "" "" "MYLK(NM_053025.3):c.4620-18G>A, MYLK(NM_053025.4):c.4620-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640522C>T" "" "benign" "" "0000298498" "0" "30" "3" "123359355" "123359355" "subst" "0.000101781" "02329" "MYLK_000019" "g.123359355C>T" "" "" "" "MYLK(NM_053025.3):c.4620-4G>A, MYLK(NM_053025.4):c.4620-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640508C>T" "" "likely benign" "" "0000298499" "0" "30" "3" "123359357" "123359357" "subst" "0.0018036" "02329" "MYLK_000020" "g.123359357G>A" "" "" "" "MYLK(NM_053025.3):c.4620-6C>T, MYLK(NM_053025.4):c.4620-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640510G>A" "" "likely benign" "" "0000298500" "0" "10" "3" "123359207" "123359207" "subst" "0.00445076" "02329" "MYLK_000018" "g.123359207C>T" "" "" "" "MYLK(NM_053025.3):c.4764G>A (p.P1588=), MYLK(NM_053025.4):c.4764G>A (p.P1588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640360C>T" "" "benign" "" "0000298501" "0" "30" "3" "123348368" "123348368" "subst" "0.000105576" "02329" "MYLK_000014" "g.123348368G>A" "" "" "" "MYLK(NM_053025.3):c.5067C>T (p.S1689=), MYLK(NM_053025.4):c.5067C>T (p.S1689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123629521G>A" "" "likely benign" "" "0000298502" "0" "10" "3" "123348356" "123348356" "subst" "0.00166488" "02329" "MYLK_000013" "g.123348356C>T" "" "" "" "MYLK(NM_053025.3):c.5079G>A (p.K1693=), MYLK(NM_053025.4):c.5079G>A (p.K1693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123629509C>T" "" "benign" "" "0000298503" "0" "30" "3" "123348313" "123348313" "subst" "0.00036553" "02329" "MYLK_000011" "g.123348313C>T" "" "" "" "MYLK(NM_053025.3):c.5114+8G>A, MYLK(NM_053025.4):c.5114+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123629466C>T" "" "likely benign" "" "0000298504" "0" "30" "3" "123348313" "123348313" "subst" "0" "02329" "MYLK_000012" "g.123348313C>A" "" "" "" "MYLK(NM_053025.4):c.5114+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123629466C>A" "" "likely benign" "" "0000298505" "0" "30" "3" "123339082" "123339082" "subst" "8.12222E-6" "02329" "MYLK_000010" "g.123339082C>T" "" "" "" "MYLK(NM_053025.4):c.5340G>A (p.P1780=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123620235C>T" "" "likely benign" "" "0000298506" "0" "10" "3" "123339033" "123339041" "del" "0.00515225" "02329" "MYLK_000009" "g.123339033_123339041del" "" "" "" "MYLK(NM_053025.4):c.5368+13_5368+21delTTCTCCAGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123620186_123620194del" "" "benign" "" "0000298507" "0" "30" "3" "123337538" "123337538" "subst" "0.00121952" "02329" "MYLK_000008" "g.123337538G>A" "" "" "" "MYLK(NM_053025.4):c.5448C>T (p.R1816=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123618691G>A" "" "likely benign" "" "0000298508" "0" "30" "3" "123333216" "123333216" "subst" "0.000330896" "02329" "MYLK_000005" "g.123333216C>T" "" "" "" "MYLK(NM_053025.4):c.5501-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123614369C>T" "" "likely benign" "" "0000298509" "0" "30" "3" "123457732" "123457735" "del" "0" "02329" "MYLK_000122" "g.123457732_123457735del" "" "" "" "MYLK(NM_053025.3):c.588+13_588+16delTCTG, MYLK(NM_053025.4):c.588+13_588+16delTCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123738885_123738888del" "" "likely benign" "" "0000298510" "0" "30" "3" "123456370" "123456370" "subst" "0" "02329" "MYLK_000120" "g.123456370C>G" "" "" "" "MYLK(NM_053025.4):c.609G>C (p.P203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123737523C>G" "" "likely benign" "" "0000298511" "0" "10" "3" "123512627" "123512627" "subst" "0.117946" "02329" "MYLK_000133" "g.123512627G>T" "" "" "" "MYLK(NM_053025.3):c.62C>A (p.P21H), MYLK(NM_053025.4):c.62C>A (p.P21H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123793780G>T" "" "benign" "" "0000298512" "0" "30" "3" "123456209" "123456209" "subst" "2.0358E-5" "02329" "MYLK_000116" "g.123456209G>A" "" "" "" "MYLK(NM_053025.4):c.754+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123737362G>A" "" "likely benign" "" "0000298513" "0" "30" "3" "123454275" "123454275" "subst" "0.00193301" "02329" "MYLK_000115" "g.123454275G>A" "" "" "" "MYLK(NM_053025.3):c.755-12C>T, MYLK(NM_053025.4):c.755-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123735428G>A" "" "likely benign" "" "0000298514" "0" "30" "3" "123452844" "123452844" "subst" "0.000402088" "02329" "MYLK_000112" "g.123452844C>T" "" "" "" "MYLK(NM_053025.3):c.999G>A (p.P333=), MYLK(NM_053025.4):c.999G>A (p.P333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733997C>T" "" "likely benign" "" "0000299763" "0" "30" "3" "123452710" "123452710" "subst" "0.000110067" "02326" "MYLK_000108" "g.123452710C>T" "" "" "" "MYLK(NM_053025.3):c.1133G>A (p.R378H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733863C>T" "" "likely benign" "" "0000299764" "0" "10" "3" "123452508" "123452508" "subst" "0.030434" "02326" "MYLK_000106" "g.123452508C>T" "" "" "" "MYLK(NM_053025.3):c.1309+26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733661C>T" "" "benign" "" "0000299765" "0" "10" "3" "123451932" "123451932" "subst" "0.0140247" "02326" "MYLK_000104" "g.123451932G>A" "" "" "" "MYLK(NM_053025.3):c.1327C>T (p.P443S), MYLK(NM_053025.4):c.1327C>T (p.P443S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733085G>A" "" "benign" "" "0000299766" "0" "10" "3" "123444768" "123444768" "subst" "0.00125756" "02326" "MYLK_000097" "g.123444768G>C" "" "" "" "MYLK(NM_053025.3):c.1651+23C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123725921G>C" "" "benign" "" "0000299767" "0" "50" "3" "123428680" "123428680" "subst" "2.84252E-5" "02326" "MYLK_000085" "g.123428680G>C" "" "" "" "MYLK(NM_053025.3):c.1865C>G (p.A622G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123709833G>C" "" "VUS" "" "0000299768" "0" "10" "3" "123419782" "123419782" "subst" "0.0272939" "02326" "MYLK_000076" "g.123419782G>A" "" "" "" "MYLK(NM_053025.3):c.2533C>T (p.R845C), MYLK(NM_053025.4):c.2533C>T (p.R845C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700935G>A" "" "benign" "" "0000299769" "0" "50" "3" "123419686" "123419686" "subst" "0.000125978" "02326" "MYLK_000071" "g.123419686C>T" "" "" "" "MYLK(NM_053025.3):c.2629G>A (p.V877M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700839C>T" "" "VUS" "" "0000299770" "0" "50" "3" "123419495" "123419495" "subst" "0" "02326" "MYLK_000068" "g.123419495C>A" "" "" "" "MYLK(NM_053025.3):c.2820G>T (p.E940D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700648C>A" "" "VUS" "" "0000299771" "0" "30" "3" "123419417" "123419417" "subst" "2.84671E-5" "02326" "MYLK_000067" "g.123419417G>A" "" "" "" "MYLK(NM_053025.3):c.2898C>T (p.P966=), MYLK(NM_053025.4):c.2898C>T (p.P966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700570G>A" "" "likely benign" "" "0000299772" "0" "50" "3" "123471247" "123471247" "subst" "2.43799E-5" "02326" "MYLK_000130" "g.123471247C>G" "" "" "" "MYLK(NM_053025.3):c.304G>C (p.G102R, p.(Gly102Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123752400C>G" "" "VUS" "" "0000299773" "0" "30" "3" "123411701" "123411701" "subst" "0" "02326" "MYLK_000052" "g.123411701G>A" "" "" "" "MYLK(NM_053025.3):c.3449-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123692854G>A" "" "likely benign" "" "0000299774" "0" "50" "3" "123411621" "123411621" "subst" "0" "02326" "MYLK_000051" "g.123411621C>T" "" "" "" "MYLK(NM_053025.3):c.3526G>A (p.A1176T), MYLK(NM_053025.4):c.3526G>A (p.(Ala1176Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123692774C>T" "" "VUS" "" "0000299775" "0" "10" "3" "123401060" "123401060" "subst" "0.0340593" "02326" "MYLK_000045" "g.123401060C>T" "" "" "" "MYLK(NM_053025.3):c.3652+11G>A, MYLK(NM_053025.4):c.3652+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123682213C>T" "" "benign" "" "0000299776" "0" "30" "3" "123385972" "123385972" "subst" "0.000190851" "02326" "MYLK_000043" "g.123385972G>A" "" "" "" "MYLK(NM_053025.3):c.3703+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123667125G>A" "" "likely benign" "" "0000299777" "0" "30" "3" "123383111" "123383111" "subst" "0.000698438" "02326" "MYLK_000041" "g.123383111G>A" "" "" "" "MYLK(NM_053025.3):c.3832-6C>T (p.(=)), MYLK(NM_053025.4):c.3832-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123664264G>A" "" "likely benign" "" "0000299778" "0" "30" "3" "123383039" "123383039" "subst" "0.000503811" "02326" "MYLK_000040" "g.123383039C>T" "" "" "" "MYLK(NM_053025.3):c.3898G>A (p.A1300T), MYLK(NM_053025.4):c.3898G>A (p.A1300T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123664192C>T" "" "likely benign" "" "0000299779" "0" "30" "3" "123368051" "123368051" "dup" "0" "02326" "MYLK_000031" "g.123368051dup" "" "" "" "MYLK(NM_053025.3):c.4289-3dupC, MYLK(NM_053025.4):c.4289-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649204dup" "" "likely benign" "" "0000299780" "0" "10" "3" "123359363" "123359363" "subst" "0.024021" "02326" "MYLK_000021" "g.123359363C>T" "" "" "" "MYLK(NM_053025.3):c.4620-12G>A, MYLK(NM_053025.4):c.4620-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640516C>T" "" "benign" "" "0000299781" "0" "10" "3" "123359357" "123359357" "subst" "0.0018036" "02326" "MYLK_000020" "g.123359357G>A" "" "" "" "MYLK(NM_053025.3):c.4620-6C>T, MYLK(NM_053025.4):c.4620-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640510G>A" "" "benign" "" "0000299782" "0" "10" "3" "123359207" "123359207" "subst" "0.00445076" "02326" "MYLK_000018" "g.123359207C>T" "" "" "" "MYLK(NM_053025.3):c.4764G>A (p.P1588=), MYLK(NM_053025.4):c.4764G>A (p.P1588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640360C>T" "" "benign" "" "0000299783" "0" "30" "3" "123348313" "123348313" "subst" "0.00036553" "02326" "MYLK_000011" "g.123348313C>T" "" "" "" "MYLK(NM_053025.3):c.5114+8G>A, MYLK(NM_053025.4):c.5114+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123629466C>T" "" "likely benign" "" "0000299784" "0" "50" "3" "123337506" "123337506" "subst" "0" "02326" "MYLK_000006" "g.123337506C>G" "" "" "" "MYLK(NM_053025.3):c.5480G>C (p.R1827T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123618659C>G" "" "VUS" "" "0000299785" "0" "10" "3" "123457732" "123457735" "del" "0" "02326" "MYLK_000122" "g.123457732_123457735del" "" "" "" "MYLK(NM_053025.3):c.588+13_588+16delTCTG, MYLK(NM_053025.4):c.588+13_588+16delTCTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123738885_123738888del" "" "benign" "" "0000299786" "0" "10" "3" "123454275" "123454275" "subst" "0.00193301" "02326" "MYLK_000115" "g.123454275G>A" "" "" "" "MYLK(NM_053025.3):c.755-12C>T, MYLK(NM_053025.4):c.755-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123735428G>A" "" "benign" "" "0000299787" "0" "30" "3" "123452844" "123452844" "subst" "0.000402088" "02326" "MYLK_000112" "g.123452844C>T" "" "" "" "MYLK(NM_053025.3):c.999G>A (p.P333=), MYLK(NM_053025.4):c.999G>A (p.P333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733997C>T" "" "likely benign" "" "0000302552" "0" "10" "3" "123452838" "123452838" "subst" "0.662291" "01943" "MYLK_000111" "g.123452838G>A" "" "" "" "MYLK(NM_053025.3):c.1005C>T (p.T335=), MYLK(NM_053025.4):c.1005C>T (p.T335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733991G>A" "" "benign" "" "0000302553" "0" "30" "3" "123452832" "123452832" "subst" "0" "01943" "MYLK_000110" "g.123452832G>C" "" "" "" "MYLK(NM_053025.3):c.1011C>G (p.V337=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733985G>C" "" "likely benign" "" "0000302554" "0" "30" "3" "123452711" "123452711" "subst" "0.000203812" "01943" "MYLK_000109" "g.123452711G>C" "" "" "" "MYLK(NM_053025.3):c.1132C>G (p.R378G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733864G>C" "" "likely benign" "" "0000302555" "0" "30" "3" "123452710" "123452710" "subst" "0.000110067" "01943" "MYLK_000108" "g.123452710C>T" "" "" "" "MYLK(NM_053025.3):c.1133G>A (p.R378H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733863C>T" "" "likely benign" "" "0000302556" "0" "50" "3" "123452547" "123452547" "subst" "0" "01943" "MYLK_000107" "g.123452547C>G" "" "" "" "MYLK(NM_053025.3):c.1296G>C (p.K432N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733700C>G" "" "VUS" "" "0000302557" "0" "10" "3" "123452508" "123452508" "subst" "0.030434" "01943" "MYLK_000106" "g.123452508C>T" "" "" "" "MYLK(NM_053025.3):c.1309+26G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733661C>T" "" "benign" "" "0000302558" "0" "30" "3" "123451945" "123451945" "subst" "4.53661E-5" "01943" "MYLK_000105" "g.123451945G>A" "" "" "" "MYLK(NM_053025.3):c.1314C>T (p.S438=), MYLK(NM_053025.4):c.1314C>T (p.S438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733098G>A" "" "likely benign" "" "0000302559" "0" "10" "3" "123451932" "123451932" "subst" "0.0140247" "01943" "MYLK_000104" "g.123451932G>A" "" "" "" "MYLK(NM_053025.3):c.1327C>T (p.P443S), MYLK(NM_053025.4):c.1327C>T (p.P443S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733085G>A" "" "benign" "" "0000302560" "0" "10" "3" "123451727" "123451727" "subst" "0.00340371" "01943" "MYLK_000101" "g.123451727G>A" "" "" "" "MYLK(NM_053025.3):c.1516+16C>T, MYLK(NM_053025.4):c.1516+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123732880G>A" "" "benign" "" "0000302561" "0" "10" "3" "123451743" "123451743" "subst" "0.00117068" "01943" "MYLK_000102" "g.123451743T>C" "" "" "" "MYLK(NM_053025.3):c.1516A>G (p.R506G), MYLK(NM_053025.4):c.1516A>G (p.R506G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123732896T>C" "" "benign" "" "0000302562" "0" "30" "3" "123444928" "123444928" "subst" "4.08537E-6" "01943" "MYLK_000100" "g.123444928G>A" "" "" "" "MYLK(NM_053025.3):c.1517-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123726081G>A" "" "likely benign" "" "0000302563" "0" "30" "3" "123444833" "123444833" "subst" "0.000443295" "01943" "MYLK_000099" "g.123444833C>T" "" "" "" "MYLK(NM_053025.3):c.1609G>A (p.V537I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123725986C>T" "" "likely benign" "" "0000302564" "0" "10" "3" "123444768" "123444768" "subst" "0.00125756" "01943" "MYLK_000097" "g.123444768G>C" "" "" "" "MYLK(NM_053025.3):c.1651+23C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123725921G>C" "" "benign" "" "0000302565" "0" "10" "3" "123444761" "123444761" "subst" "2.05609E-5" "01943" "MYLK_000096" "g.123444761G>A" "" "" "" "MYLK(NM_053025.3):c.1651+30C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123725914G>A" "" "benign" "" "0000302566" "0" "10" "3" "123441238" "123441238" "del" "0" "01943" "MYLK_000095" "g.123441238del" "" "" "" "MYLK(NM_053025.3):c.1652-111delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123722391del" "" "benign" "" "0000302567" "0" "10" "3" "123441179" "123441179" "subst" "0" "01943" "MYLK_000094" "g.123441179C>T" "" "" "" "MYLK(NM_053025.3):c.1652-52G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123722332C>T" "" "benign" "" "0000302569" "0" "30" "3" "123441054" "123441054" "subst" "2.43721E-5" "01943" "MYLK_000092" "g.123441054C>T" "" "" "" "MYLK(NM_053025.3):c.1725G>A (p.P575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123722207C>T" "" "likely benign" "" "0000302574" "0" "10" "3" "123428580" "123428581" "del" "0.0169403" "01943" "MYLK_000083" "g.123428580_123428581del" "" "" "" "MYLK(NM_053025.3):c.1942+22_1942+23delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123709733_123709734del" "" "benign" "" "0000302575" "0" "50" "3" "123427694" "123427694" "subst" "0.000491339" "01943" "MYLK_000081" "g.123427694T>C" "" "" "" "MYLK(NM_053025.3):c.1991A>G (p.Q664R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123708847T>C" "" "VUS" "" "0000302576" "0" "10" "3" "123427584" "123427584" "subst" "0.00138563" "01943" "MYLK_000079" "g.123427584C>T" "" "" "" "MYLK(NM_053025.3):c.2101G>A (p.A701T, p.(Ala701Thr)), MYLK(NM_053025.4):c.2101G>A (p.A701T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123708737C>T" "" "benign" "" "0000302578" "0" "50" "3" "123420286" "123420286" "subst" "0.000178687" "01943" "MYLK_000077" "g.123420286G>A" "" "" "" "MYLK(NM_053025.3):c.2461C>T (p.R821W), MYLK(NM_053025.4):c.2461C>T (p.R821W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123701439G>A" "" "VUS" "" "0000302579" "0" "10" "3" "123419782" "123419782" "subst" "0.0272939" "01943" "MYLK_000076" "g.123419782G>A" "" "" "" "MYLK(NM_053025.3):c.2533C>T (p.R845C), MYLK(NM_053025.4):c.2533C>T (p.R845C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700935G>A" "" "benign" "" "0000302580" "0" "50" "3" "123471295" "123471295" "subst" "0.000138225" "01943" "MYLK_000131" "g.123471295G>A" "" "" "" "MYLK(NM_053025.3):c.256C>T (p.R86W), MYLK(NM_053025.4):c.256C>T (p.R86W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123752448G>A" "" "VUS" "" "0000302581" "0" "30" "3" "123419734" "123419734" "subst" "0" "01943" "MYLK_000075" "g.123419734G>T" "" "" "" "MYLK(NM_053025.3):c.2581C>A (p.L861I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700887G>T" "" "likely benign" "" "0000302583" "0" "10" "3" "123419573" "123419573" "subst" "0.100589" "01943" "MYLK_000069" "g.123419573G>T" "" "" "" "MYLK(NM_053025.3):c.2742C>A (p.D914E), MYLK(NM_053025.4):c.2742C>A (p.D914E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700726G>T" "" "benign" "" "0000302584" "0" "10" "3" "123419288" "123419288" "subst" "0.0711839" "01943" "MYLK_000066" "g.123419288C>T" "" "" "" "MYLK(NM_053025.3):c.3027G>A (p.E1009=), MYLK(NM_053025.4):c.3027G>A (p.E1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700441C>T" "" "benign" "" "0000302585" "0" "30" "3" "123419131" "123419131" "subst" "6.90462E-5" "01943" "MYLK_000065" "g.123419131C>A" "" "" "" "MYLK(NM_053025.3):c.3184G>T (p.A1062S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700284C>A" "" "likely benign" "" "0000302586" "0" "10" "3" "123419122" "123419124" "del" "0" "01943" "MYLK_000064" "g.123419122_123419124del" "" "" "" "MYLK(NM_053025.3):c.3196_3198delGAA (p.E1066del), MYLK(NM_053025.4):c.3196_3198delGAA (p.E1066del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700275_123700277del" "" "benign" "" "0000302588" "0" "30" "3" "123419069" "123419069" "subst" "0" "01943" "MYLK_000061" "g.123419069T>C" "" "" "" "MYLK(NM_053025.3):c.3246A>G (p.A1082=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700222T>C" "" "likely benign" "" "0000302590" "0" "30" "3" "123419013" "123419013" "subst" "4.06091E-6" "01943" "MYLK_000059" "g.123419013T>C" "" "" "" "MYLK(NM_053025.3):c.3302A>G (p.K1101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700166T>C" "" "likely benign" "" "0000302592" "0" "50" "3" "123418912" "123418912" "subst" "1.2183E-5" "01943" "MYLK_000054" "g.123418912C>T" "" "" "" "MYLK(NM_053025.3):c.3403G>A (p.G1135R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123700065C>T" "" "VUS" "" "0000302594" "0" "50" "3" "123471207" "123471207" "subst" "8.94265E-5" "01943" "MYLK_000002" "g.123471207C>T" "" "" "" "MYLK(NM_053025.3):c.344G>A (p.R115H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123752360C>T" "" "VUS" "" "0000302595" "0" "50" "3" "123401140" "123401140" "subst" "0" "01943" "MYLK_000049" "g.123401140T>C" "" "" "" "MYLK(NM_053025.3):c.3583A>G (p.N1195D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123682293T>C" "" "VUS" "" "0000302596" "0" "50" "3" "123401113" "123401113" "subst" "0.000122766" "01943" "MYLK_000048" "g.123401113G>A" "" "" "" "MYLK(NM_053025.3):c.3610C>T (p.R1204W), MYLK(NM_053025.4):c.3610C>T (p.R1204W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123682266G>A" "" "VUS" "" "0000302597" "0" "30" "3" "123401086" "123401086" "subst" "4.00927E-5" "01943" "MYLK_000047" "g.123401086C>G" "" "" "" "MYLK(NM_053025.3):c.3637G>C (p.V1213L, p.(Val1213Leu)), MYLK(NM_053025.4):c.3637G>C (p.V1213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123682239C>G" "" "likely benign" "" "0000302598" "0" "10" "3" "123401060" "123401060" "subst" "0.0340593" "01943" "MYLK_000045" "g.123401060C>T" "" "" "" "MYLK(NM_053025.3):c.3652+11G>A, MYLK(NM_053025.4):c.3652+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123682213C>T" "" "benign" "" "0000302599" "0" "30" "3" "123386034" "123386034" "subst" "4.06217E-6" "01943" "MYLK_000044" "g.123386034C>T" "" "" "" "MYLK(NM_053025.3):c.3653G>A (p.S1218N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123667187C>T" "" "likely benign" "" "0000302600" "0" "10" "3" "123385217" "123385217" "subst" "0.0161673" "01943" "MYLK_000042" "g.123385217G>A" "" "" "" "MYLK(NM_053025.3):c.3704-24C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123666370G>A" "" "benign" "" "0000302601" "0" "30" "3" "123383111" "123383111" "subst" "0.000698438" "01943" "MYLK_000041" "g.123383111G>A" "" "" "" "MYLK(NM_053025.3):c.3832-6C>T (p.(=)), MYLK(NM_053025.4):c.3832-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123664264G>A" "" "likely benign" "" "0000302602" "0" "50" "3" "123382995" "123382995" "subst" "0" "01943" "MYLK_000039" "g.123382995G>T" "" "" "" "MYLK(NM_053025.3):c.3942C>A (p.N1314K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123664148G>T" "" "VUS" "" "0000302603" "0" "50" "3" "123376230" "123376230" "subst" "7.72414E-5" "01943" "MYLK_000037" "g.123376230C>T" "" "" "" "MYLK(NM_053025.3):c.4031G>A (p.R1344Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123657383C>T" "" "VUS" "" "0000302604" "0" "10" "3" "123458811" "123458811" "subst" "0.0102922" "01943" "MYLK_000127" "g.123458811G>C" "" "" "" "MYLK(NM_053025.3):c.411C>G (p.S137=), MYLK(NM_053025.4):c.411C>G (p.S137=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123739964G>C" "" "benign" "" "0000302605" "0" "30" "3" "123376082" "123376082" "subst" "0" "01943" "MYLK_000036" "g.123376082G>A" "" "" "" "MYLK(NM_053025.3):c.4179C>T (p.D1393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123657235G>A" "" "likely benign" "" "0000302608" "0" "50" "3" "123368046" "123368046" "subst" "1.22061E-5" "01943" "MYLK_000034" "g.123368046G>T" "" "" "" "MYLK(NM_053025.3):c.4289-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649199G>T" "" "VUS" "" "0000302609" "0" "10" "3" "123367988" "123367988" "subst" "0.000121896" "01943" "MYLK_000028" "g.123367988G>T" "" "" "" "MYLK(NM_053025.3):c.4321+21C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649141G>T" "" "benign" "" "0000302610" "0" "50" "3" "123367897" "123367897" "subst" "0.000117775" "01943" "MYLK_000027" "g.123367897C>T" "" "" "" "MYLK(NM_053025.3):c.4336G>A (p.E1446K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649050C>T" "" "VUS" "" "0000302611" "0" "10" "3" "123457893" "123457893" "subst" "0.949225" "01943" "MYLK_000001" "g.123457893G>A" "" "" "" "MYLK(NM_053025.3):c.438_439delTCinsTT (p.P147S), MYLK(NM_053025.4):c.439C>T (p.P147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123739046G>A" "" "benign" "" "0000302612" "0" "30" "3" "123457889" "123457889" "subst" "0" "01943" "MYLK_000126" "g.123457889G>A" "" "" "" "MYLK(NM_053025.3):c.443C>T (p.A148V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123739042G>A" "" "likely benign" "" "0000302613" "0" "50" "3" "123366144" "123366144" "subst" "0" "01943" "MYLK_000023" "g.123366144G>A" "" "" "" "MYLK(NM_053025.3):c.4546C>T (p.L1516F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123647297G>A" "" "VUS" "" "0000302614" "0" "10" "3" "123359363" "123359363" "subst" "0.024021" "01943" "MYLK_000021" "g.123359363C>T" "" "" "" "MYLK(NM_053025.3):c.4620-12G>A, MYLK(NM_053025.4):c.4620-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640516C>T" "" "benign" "" "0000302615" "0" "10" "3" "123359369" "123359369" "subst" "0.00274236" "01943" "MYLK_000022" "g.123359369C>T" "" "" "" "MYLK(NM_053025.3):c.4620-18G>A, MYLK(NM_053025.4):c.4620-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640522C>T" "" "benign" "" "0000302616" "0" "30" "3" "123359357" "123359357" "subst" "0.0018036" "01943" "MYLK_000020" "g.123359357G>A" "" "" "" "MYLK(NM_053025.3):c.4620-6C>T, MYLK(NM_053025.4):c.4620-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640510G>A" "" "likely benign" "" "0000302617" "0" "50" "3" "123457869" "123457869" "subst" "1.62713E-5" "01943" "MYLK_000125" "g.123457869T>C" "" "" "" "MYLK(NM_053025.3):c.463A>G (p.I155V), MYLK(NM_053025.4):c.463A>G (p.I155V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123739022T>C" "" "VUS" "" "0000302618" "0" "30" "3" "123359207" "123359207" "subst" "0.00445076" "01943" "MYLK_000018" "g.123359207C>T" "" "" "" "MYLK(NM_053025.3):c.4764G>A (p.P1588=), MYLK(NM_053025.4):c.4764G>A (p.P1588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640360C>T" "" "likely benign" "" "0000302619" "0" "30" "3" "123359186" "123359186" "subst" "4.06081E-6" "01943" "MYLK_000017" "g.123359186G>A" "" "" "" "MYLK(NM_053025.3):c.4785C>T (p.N1595=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640339G>A" "" "likely benign" "" "0000302620" "0" "10" "3" "123457853" "123457853" "subst" "0.00111154" "01943" "MYLK_000124" "g.123457853G>C" "" "" "" "MYLK(NM_053025.3):c.479C>G (p.P160R), MYLK(NM_053025.4):c.479C>G (p.P160R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123739006G>C" "" "benign" "" "0000302621" "0" "10" "3" "123357062" "123357062" "subst" "0.217083" "01943" "MYLK_000016" "g.123357062G>C" "" "" "" "MYLK(NM_053025.3):c.4838-21C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123638215G>C" "" "benign" "" "0000302622" "0" "50" "3" "123457826" "123457826" "subst" "0.000101939" "01943" "MYLK_000123" "g.123457826C>T" "" "" "" "MYLK(NM_053025.3):c.506G>A (p.R169Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123738979C>T" "" "VUS" "" "0000302623" "0" "10" "3" "123348356" "123348356" "subst" "0.00166488" "01943" "MYLK_000013" "g.123348356C>T" "" "" "" "MYLK(NM_053025.3):c.5079G>A (p.K1693=), MYLK(NM_053025.4):c.5079G>A (p.K1693=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123629509C>T" "" "benign" "" "0000302624" "0" "30" "3" "123348313" "123348313" "subst" "0.00036553" "01943" "MYLK_000011" "g.123348313C>T" "" "" "" "MYLK(NM_053025.3):c.5114+8G>A, MYLK(NM_053025.4):c.5114+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123629466C>T" "" "likely benign" "" "0000302625" "0" "30" "3" "123337532" "123337532" "subst" "8.12968E-6" "01943" "MYLK_000007" "g.123337532T>C" "" "" "" "MYLK(NM_053025.3):c.5454A>G (p.L1818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123618685T>C" "" "likely benign" "" "0000302626" "0" "10" "3" "123456420" "123456420" "subst" "0.00224899" "01943" "MYLK_000121" "g.123456420T>A" "" "" "" "MYLK(NM_053025.3):c.589-30A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123737573T>A" "" "benign" "" "0000302627" "0" "10" "3" "123512627" "123512627" "subst" "0.117946" "01943" "MYLK_000133" "g.123512627G>T" "" "" "" "MYLK(NM_053025.3):c.62C>A (p.P21H), MYLK(NM_053025.4):c.62C>A (p.P21H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123793780G>T" "" "benign" "" "0000302628" "0" "10" "3" "123456327" "123456327" "subst" "0.00111269" "01943" "MYLK_000119" "g.123456327G>A" "" "" "" "MYLK(NM_053025.3):c.652C>T (p.L218=), MYLK(NM_053025.4):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123737480G>A" "" "benign" "" "0000302629" "0" "30" "3" "123456297" "123456297" "subst" "4.06068E-6" "01943" "MYLK_000118" "g.123456297C>G" "" "" "" "MYLK(NM_053025.3):c.682G>C (p.V228L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123737450C>G" "" "likely benign" "" "0000302630" "0" "10" "3" "123454275" "123454275" "subst" "0.00193301" "01943" "MYLK_000115" "g.123454275G>A" "" "" "" "MYLK(NM_053025.3):c.755-12C>T, MYLK(NM_053025.4):c.755-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123735428G>A" "" "benign" "" "0000302631" "0" "90" "3" "123452906" "123452906" "subst" "0" "01943" "MYLK_000113" "g.123452906G>A" "" "" "" "MYLK(NM_053025.3):c.937C>T (p.Q313*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123734059G>A" "" "pathogenic" "" "0000302632" "0" "30" "3" "123452844" "123452844" "subst" "0.000402088" "01943" "MYLK_000112" "g.123452844C>T" "" "" "" "MYLK(NM_053025.3):c.999G>A (p.P333=), MYLK(NM_053025.4):c.999G>A (p.P333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733997C>T" "" "likely benign" "" "0000337071" "0" "10" "3" "123357037" "123357037" "subst" "0.21784" "02327" "MYLK_000015" "g.123357037A>G" "" "" "" "MYLK(NM_053025.3):c.4842T>C (p.N1614=), MYLK(NM_053025.4):c.4842T>C (p.N1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123638190A>G" "" "benign" "" "0000337072" "0" "10" "3" "123376067" "123376067" "subst" "0.0303164" "02327" "MYLK_000134" "g.123376067G>A" "" "" "" "MYLK(NM_053025.3):c.4194C>T (p.H1398=), MYLK(NM_053025.4):c.4194C>T (p.H1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123657220G>A" "" "benign" "" "0000337073" "0" "10" "3" "123440967" "123440967" "subst" "0.980669" "02327" "MYLK_000090" "g.123440967G>A" "" "" "" "MYLK(NM_053025.4):c.1804+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123722120G>A" "" "benign" "" "0000337075" "0" "10" "3" "123595432" "123595432" "subst" "0" "02327" "MYLK_000137" "g.123595432G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123876585G>A" "" "benign" "" "0000339341" "0" "10" "3" "123359207" "123359207" "subst" "0.00445076" "02327" "MYLK_000018" "g.123359207C>T" "" "" "" "MYLK(NM_053025.3):c.4764G>A (p.P1588=), MYLK(NM_053025.4):c.4764G>A (p.P1588=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123640360C>T" "" "benign" "" "0000339342" "0" "10" "3" "123368013" "123368013" "subst" "0.229966" "02327" "MYLK_000029" "g.123368013A>G" "" "" "" "MYLK(NM_053025.3):c.4317T>C (p.D1439=), MYLK(NM_053025.4):c.4317T>C (p.D1439=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123649166A>G" "" "benign" "" "0000339343" "0" "10" "3" "123411589" "123411589" "subst" "0.581238" "02327" "MYLK_000135" "g.123411589G>A" "" "" "" "MYLK(NM_053025.4):c.3558C>T (p.T1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123692742G>A" "" "benign" "" "0000339344" "0" "10" "3" "123452838" "123452838" "subst" "0.662291" "02327" "MYLK_000111" "g.123452838G>A" "" "" "" "MYLK(NM_053025.3):c.1005C>T (p.T335=), MYLK(NM_053025.4):c.1005C>T (p.T335=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123733991G>A" "" "benign" "" "0000343128" "0" "50" "3" "123471382" "123471382" "subst" "8.2894E-6" "02327" "MYLK_000136" "g.123471382G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123752535G>A" "" "VUS" "" "0000347196" "0" "10" "3" "123451773" "123451773" "subst" "0.999699" "02327" "MYLK_000103" "g.123451773G>C" "" "" "" "MYLK(NM_053025.4):c.1486C>G (p.L496V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123732926G>C" "" "benign" "" "0000350432" "0" "10" "3" "123453061" "123453061" "subst" "0.113641" "02327" "MYLK_000114" "g.123453061A>G" "" "" "" "MYLK(NM_053025.3):c.782T>C (p.V261A), MYLK(NM_053025.4):c.782T>C (p.V261A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123734214A>G" "" "benign" "" "0000368468" "0" "70" "3" "123348474" "123348474" "subst" "0" "01741" "MYLK_000138" "g.123348474C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123629627C>A" "" "likely pathogenic" "" "0000517557" "0" "30" "3" "123337509" "123337509" "subst" "0.00027645" "02329" "MYLK_000139" "g.123337509G>A" "" "" "" "MYLK(NM_053025.3):c.5477C>T (p.A1826V), MYLK(NM_053025.4):c.5477C>T (p.A1826V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123618662G>A" "" "likely benign" "" "0000517558" "0" "30" "3" "123345794" "123345794" "subst" "4.06138E-6" "01804" "MYLK_000140" "g.123345794A>G" "" "" "" "MYLK(NM_053025.3):c.5115-6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123626947A>G" "" "likely benign" "" "0000517559" "0" "30" "3" "123348368" "123348368" "subst" "0.000105576" "01943" "MYLK_000014" "g.123348368G>A" "" "" "" "MYLK(NM_053025.3):c.5067C>T (p.S1689=), MYLK(NM_053025.4):c.5067C>T (p.S1689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123629521G>A" "" "likely benign" "" "0000517560" "0" "30" "3" "123348434" "123348434" "subst" "6.4972E-5" "01943" "MYLK_000141" "g.123348434G>A" "" "" "" "MYLK(NM_053025.3):c.5001C>T (p.N1667=), MYLK(NM_053025.4):c.5001C>T (p.N1667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123629587G>A" "" "likely benign" "" "0000517561" "0" "50" "3" "123357029" "123357029" "subst" "4.062E-6" "02329" "MYLK_000142" "g.123357029G>T" "" "" "" "MYLK(NM_053025.4):c.4850C>A (p.S1617Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123638182G>T" "" "VUS" "" "0000517562" "0" "50" "3" "123357030" "123357030" "subst" "0" "02326" "MYLK_000143" "g.123357030A>G" "" "" "" "MYLK(NM_053025.3):c.4849T>C (p.S1617P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123638183A>G" "" "VUS" "" "0000517563" "0" "30" "3" "123359159" "123359159" "subst" "2.84324E-5" "02326" "MYLK_000144" "g.123359159G>A" "" "" "" "MYLK(NM_053025.3):c.4812C>T (p.I1604=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123640312G>A" "" "likely benign" "" "0000517564" "0" "10" "3" "123359369" "123359369" "subst" "0.00274236" "02326" "MYLK_000022" "g.123359369C>T" "" "" "" "MYLK(NM_053025.3):c.4620-18G>A, MYLK(NM_053025.4):c.4620-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123640522C>T" "" "benign" "" "0000517565" "0" "50" "3" "123366125" "123366125" "subst" "4.46726E-5" "02329" "MYLK_000145" "g.123366125A>G" "" "" "" "MYLK(NM_053025.3):c.4565T>C (p.V1522A), MYLK(NM_053025.4):c.4565T>C (p.V1522A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123647278A>G" "" "VUS" "" "0000517566" "0" "50" "3" "123366175" "123366175" "subst" "0" "02329" "MYLK_000146" "g.123366175A>C" "" "" "" "MYLK(NM_053025.4):c.4515T>G (p.N1505K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123647328A>C" "" "VUS" "" "0000517567" "0" "30" "3" "123367884" "123367884" "subst" "0.00106409" "02329" "MYLK_000147" "g.123367884C>T" "" "" "" "MYLK(NM_053025.3):c.4349G>A (p.R1450Q), MYLK(NM_053025.4):c.4349G>A (p.R1450Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123649037C>T" "" "likely benign" "" "0000517568" "0" "30" "3" "123367886" "123367886" "subst" "0" "02326" "MYLK_000148" "g.123367886G>A" "" "" "" "MYLK(NM_053025.3):c.4347C>T (p.Y1449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123649039G>A" "" "likely benign" "" "0000517569" "0" "30" "3" "123368037" "123368037" "subst" "0.000105771" "02326" "MYLK_000149" "g.123368037C>T" "" "" "" "MYLK(NM_053025.3):c.4293G>A (p.P1431=), MYLK(NM_053025.4):c.4293G>A (p.P1431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123649190C>T" "" "likely benign" "" "0000517570" "0" "30" "3" "123368037" "123368037" "subst" "0.000105771" "02329" "MYLK_000149" "g.123368037C>T" "" "" "" "MYLK(NM_053025.3):c.4293G>A (p.P1431=), MYLK(NM_053025.4):c.4293G>A (p.P1431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123649190C>T" "" "likely benign" "" "0000517571" "0" "50" "3" "123368045" "123368046" "ins" "0" "01943" "MYLK_000150" "g.123368045_123368046insT" "" "" "" "MYLK(NM_053025.3):c.4289-5_4289-4insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123649198_123649199insT" "" "VUS" "" "0000517572" "0" "10" "3" "123368050" "123368050" "subst" "0.00107442" "01943" "MYLK_000035" "g.123368050G>C" "" "" "" "MYLK(NM_053025.3):c.4289-9C>G, MYLK(NM_053025.4):c.4289-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123649203G>C" "" "benign" "" "0000517573" "0" "10" "3" "123368051" "123368051" "dup" "0" "01943" "MYLK_000031" "g.123368051dup" "" "" "" "MYLK(NM_053025.3):c.4289-3dupC, MYLK(NM_053025.4):c.4289-3dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123649204dup" "" "benign" "" "0000517575" "0" "50" "3" "123376039" "123376039" "subst" "4.06263E-6" "02329" "MYLK_000151" "g.123376039T>C" "" "" "" "MYLK(NM_053025.4):c.4222A>G (p.N1408D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123657192T>C" "" "VUS" "" "0000517576" "0" "10" "3" "123376067" "123376067" "subst" "0.0303164" "01943" "MYLK_000134" "g.123376067G>A" "" "" "" "MYLK(NM_053025.3):c.4194C>T (p.H1398=), MYLK(NM_053025.4):c.4194C>T (p.H1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123657220G>A" "" "benign" "" "0000517577" "0" "10" "3" "123376067" "123376067" "subst" "0.0303164" "02326" "MYLK_000134" "g.123376067G>A" "" "" "" "MYLK(NM_053025.3):c.4194C>T (p.H1398=), MYLK(NM_053025.4):c.4194C>T (p.H1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123657220G>A" "" "benign" "" "0000517578" "0" "10" "3" "123376067" "123376067" "subst" "0.0303164" "02329" "MYLK_000134" "g.123376067G>A" "" "" "" "MYLK(NM_053025.3):c.4194C>T (p.H1398=), MYLK(NM_053025.4):c.4194C>T (p.H1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123657220G>A" "" "benign" "" "0000517579" "0" "30" "3" "123376091" "123376091" "subst" "6.90333E-5" "02326" "MYLK_000152" "g.123376091G>A" "" "" "" "MYLK(NM_053025.3):c.4170C>T (p.N1390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123657244G>A" "" "likely benign" "" "0000517580" "0" "50" "3" "123376264" "123376264" "subst" "0" "02329" "MYLK_000153" "g.123376264G>A" "" "" "" "MYLK(NM_053025.4):c.3997C>T (p.P1333S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123657417G>A" "" "VUS" "" "0000517581" "0" "10" "3" "123376274" "123376274" "subst" "0.00131618" "02329" "MYLK_000154" "g.123376274A>C" "" "" "" "MYLK(NM_053025.4):c.3987T>G (p.D1329E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123657427A>C" "" "benign" "" "0000517582" "0" "30" "3" "123383111" "123383111" "subst" "0.000698438" "01804" "MYLK_000041" "g.123383111G>A" "" "" "" "MYLK(NM_053025.3):c.3832-6C>T (p.(=)), MYLK(NM_053025.4):c.3832-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123664264G>A" "" "likely benign" "" "0000517583" "0" "30" "3" "123383111" "123383111" "subst" "0.000698438" "02329" "MYLK_000041" "g.123383111G>A" "" "" "" "MYLK(NM_053025.3):c.3832-6C>T (p.(=)), MYLK(NM_053025.4):c.3832-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123664264G>A" "" "likely benign" "" "0000517584" "0" "50" "3" "123385073" "123385073" "subst" "1.21823E-5" "01943" "MYLK_000155" "g.123385073C>T" "" "" "" "MYLK(NM_053025.3):c.3824G>A (p.R1275Q, p.(Arg1275Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123666226C>T" "" "VUS" "" "0000517586" "0" "30" "3" "123385991" "123385991" "subst" "2.43637E-5" "02329" "MYLK_000157" "g.123385991C>T" "" "" "" "MYLK(NM_053025.4):c.3696G>A (p.P1232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123667144C>T" "" "likely benign" "" "0000517587" "0" "30" "3" "123401086" "123401086" "subst" "4.00927E-5" "02326" "MYLK_000047" "g.123401086C>G" "" "" "" "MYLK(NM_053025.3):c.3637G>C (p.V1213L, p.(Val1213Leu)), MYLK(NM_053025.4):c.3637G>C (p.V1213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123682239C>G" "" "likely benign" "" "0000517588" "0" "30" "3" "123401086" "123401086" "subst" "4.00927E-5" "02329" "MYLK_000047" "g.123401086C>G" "" "" "" "MYLK(NM_053025.3):c.3637G>C (p.V1213L, p.(Val1213Leu)), MYLK(NM_053025.4):c.3637G>C (p.V1213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123682239C>G" "" "likely benign" "" "0000517589" "0" "50" "3" "123401113" "123401113" "subst" "0.000122766" "02325" "MYLK_000048" "g.123401113G>A" "" "" "" "MYLK(NM_053025.3):c.3610C>T (p.R1204W), MYLK(NM_053025.4):c.3610C>T (p.R1204W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123682266G>A" "" "VUS" "" "0000517590" "0" "30" "3" "123401113" "123401113" "subst" "0.000122766" "02329" "MYLK_000048" "g.123401113G>A" "" "" "" "MYLK(NM_053025.3):c.3610C>T (p.R1204W), MYLK(NM_053025.4):c.3610C>T (p.R1204W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123682266G>A" "" "likely benign" "" "0000517591" "0" "10" "3" "123411589" "123411589" "subst" "0.581238" "02325" "MYLK_000135" "g.123411589G>A" "" "" "" "MYLK(NM_053025.4):c.3558C>T (p.T1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123692742G>A" "" "benign" "" "0000517592" "0" "10" "3" "123411589" "123411589" "subst" "0.581238" "02329" "MYLK_000135" "g.123411589G>A" "" "" "" "MYLK(NM_053025.4):c.3558C>T (p.T1186=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123692742G>A" "" "benign" "" "0000517593" "0" "30" "3" "123418847" "123418847" "subst" "0" "02329" "MYLK_000158" "g.123418847C>G" "" "" "" "MYLK(NM_053025.4):c.3448+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700000C>G" "" "likely benign" "" "0000517597" "0" "10" "3" "123419062" "123419062" "subst" "0.014733" "01943" "MYLK_000161" "g.123419062T>C" "" "" "" "MYLK(NM_053025.3):c.3253A>G (p.T1085A), MYLK(NM_053025.4):c.3253A>G (p.T1085A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700215T>C" "" "benign" "" "0000517598" "0" "10" "3" "123419062" "123419062" "subst" "0.014733" "02329" "MYLK_000161" "g.123419062T>C" "" "" "" "MYLK(NM_053025.3):c.3253A>G (p.T1085A), MYLK(NM_053025.4):c.3253A>G (p.T1085A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700215T>C" "" "benign" "" "0000517599" "0" "30" "3" "123419073" "123419073" "subst" "0.000536067" "02326" "MYLK_000063" "g.123419073T>C" "" "" "" "MYLK(NM_053025.3):c.3242A>G (p.H1081R), MYLK(NM_053025.4):c.3242A>G (p.H1081R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700226T>C" "" "likely benign" "" "0000517600" "0" "10" "3" "123419122" "123419124" "del" "0" "02329" "MYLK_000064" "g.123419122_123419124del" "" "" "" "MYLK(NM_053025.3):c.3196_3198delGAA (p.E1066del), MYLK(NM_053025.4):c.3196_3198delGAA (p.E1066del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700275_123700277del" "" "benign" "" "0000517601" "0" "50" "3" "123419194" "123419194" "subst" "8.12123E-6" "02329" "MYLK_000162" "g.123419194C>T" "" "" "" "MYLK(NM_053025.4):c.3121G>A (p.A1041T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700347C>T" "" "VUS" "" "0000517602" "0" "30" "3" "123419283" "123419283" "subst" "6.93793E-5" "01804" "MYLK_000163" "g.123419283G>A" "" "" "" "MYLK(NM_053025.3):c.3032C>T (p.(Ser1011Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700436G>A" "" "likely benign" "" "0000517603" "0" "30" "3" "123419396" "123419396" "subst" "0.000158624" "02329" "MYLK_000164" "g.123419396C>T" "" "" "" "MYLK(NM_053025.3):c.2919G>A (p.P973=), MYLK(NM_053025.4):c.2919G>A (p.P973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700549C>T" "" "likely benign" "" "0000517604" "0" "50" "3" "123419539" "123419539" "subst" "1.62427E-5" "02325" "MYLK_000165" "g.123419539G>A" "" "" "" "MYLK(NM_053025.4):c.2776C>T (p.R926C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700692G>A" "" "VUS" "" "0000517606" "0" "50" "3" "123419717" "123419717" "subst" "5.7066E-5" "01943" "MYLK_000073" "g.123419717G>A" "" "" "" "MYLK(NM_053025.3):c.2598C>T (p.G866=), MYLK(NM_053025.4):c.2598C>T (p.G866=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700870G>A" "" "VUS" "" "0000517607" "0" "50" "3" "123419841" "123419841" "subst" "0.000148511" "01943" "MYLK_000167" "g.123419841G>A" "" "" "" "MYLK(NM_053025.3):c.2474C>T (p.P825L), MYLK(NM_053025.4):c.2474C>T (p.P825L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700994G>A" "" "VUS" "" "0000517608" "0" "30" "3" "123420286" "123420286" "subst" "0.000178687" "02329" "MYLK_000077" "g.123420286G>A" "" "" "" "MYLK(NM_053025.3):c.2461C>T (p.R821W), MYLK(NM_053025.4):c.2461C>T (p.R821W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123701439G>A" "" "likely benign" "" "0000517609" "0" "50" "3" "123420289" "123420289" "subst" "0" "02326" "MYLK_000168" "g.123420289G>C" "" "" "" "MYLK(NM_053025.3):c.2458C>G (p.P820A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123701442G>C" "" "VUS" "" "0000517610" "0" "10" "3" "123426603" "123426603" "subst" "0.00211968" "01943" "MYLK_000169" "g.123426603G>A" "" "" "" "MYLK(NM_053025.3):c.2388C>T (p.L796=), MYLK(NM_053025.4):c.2388C>T (p.L796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123707756G>A" "" "benign" "" "0000517611" "0" "30" "3" "123426738" "123426738" "subst" "0.000584795" "01943" "MYLK_000170" "g.123426738G>A" "" "" "" "MYLK(NM_053025.3):c.2253C>T (p.T751=), MYLK(NM_053025.4):c.2253C>T (p.T751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123707891G>A" "" "likely benign" "" "0000517612" "0" "50" "3" "123426808" "123426808" "subst" "6.50502E-5" "02325" "MYLK_000171" "g.123426808C>T" "" "" "" "MYLK(NM_053025.3):c.2183G>A (p.R728H), MYLK(NM_053025.4):c.2183G>A (p.R728H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123707961C>T" "" "VUS" "" "0000517614" "0" "30" "3" "123427560" "123427560" "subst" "0.000215658" "02326" "MYLK_000173" "g.123427560C>T" "" "" "" "MYLK(NM_053025.3):c.2125G>A (p.V709M), MYLK(NM_053025.4):c.2125G>A (p.V709M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708713C>T" "" "likely benign" "" "0000517615" "0" "30" "3" "123427584" "123427584" "subst" "0.00138563" "01804" "MYLK_000079" "g.123427584C>T" "" "" "" "MYLK(NM_053025.3):c.2101G>A (p.A701T, p.(Ala701Thr)), MYLK(NM_053025.4):c.2101G>A (p.A701T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708737C>T" "" "likely benign" "" "0000517616" "0" "30" "3" "123427624" "123427624" "subst" "2.03051E-5" "02329" "MYLK_000174" "g.123427624C>T" "" "" "" "MYLK(NM_053025.4):c.2061G>A (p.P687=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708777C>T" "" "likely benign" "" "0000517617" "0" "50" "3" "123427662" "123427662" "subst" "0.000613148" "01943" "MYLK_000175" "g.123427662C>T" "" "" "" "MYLK(NM_053025.3):c.2023G>A (p.G675R), MYLK(NM_053025.4):c.2023G>A (p.G675R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708815C>T" "" "VUS" "" "0000517618" "0" "50" "3" "123427662" "123427662" "subst" "0.000613148" "02329" "MYLK_000175" "g.123427662C>T" "" "" "" "MYLK(NM_053025.3):c.2023G>A (p.G675R), MYLK(NM_053025.4):c.2023G>A (p.G675R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708815C>T" "" "VUS" "" "0000517619" "0" "50" "3" "123427717" "123427717" "subst" "0.00131971" "01943" "MYLK_000176" "g.123427717C>A" "" "" "" "MYLK(NM_053025.3):c.1968G>T (p.W656C, p.(Trp656Cys)), MYLK(NM_053025.4):c.1968G>T (p.W656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708870C>A" "" "VUS" "" "0000517620" "0" "30" "3" "123427717" "123427717" "subst" "0.00131971" "01804" "MYLK_000176" "g.123427717C>A" "" "" "" "MYLK(NM_053025.3):c.1968G>T (p.W656C, p.(Trp656Cys)), MYLK(NM_053025.4):c.1968G>T (p.W656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708870C>A" "" "likely benign" "" "0000517621" "0" "30" "3" "123427717" "123427717" "subst" "0.00131971" "02326" "MYLK_000176" "g.123427717C>A" "" "" "" "MYLK(NM_053025.3):c.1968G>T (p.W656C, p.(Trp656Cys)), MYLK(NM_053025.4):c.1968G>T (p.W656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708870C>A" "" "likely benign" "" "0000517622" "0" "30" "3" "123427717" "123427717" "subst" "0.00131971" "02329" "MYLK_000176" "g.123427717C>A" "" "" "" "MYLK(NM_053025.3):c.1968G>T (p.W656C, p.(Trp656Cys)), MYLK(NM_053025.4):c.1968G>T (p.W656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708870C>A" "" "likely benign" "" "0000517623" "0" "50" "3" "123440970" "123440970" "subst" "0" "02329" "MYLK_000177" "g.123440970C>A" "" "" "" "MYLK(NM_053025.4):c.1804+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123722123C>A" "" "VUS" "" "0000517624" "0" "30" "3" "123440981" "123440981" "subst" "5.3286E-5" "01804" "MYLK_000178" "g.123440981C>T" "" "" "" "MYLK(NM_053025.3):c.1798G>A (p.(Val600Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123722134C>T" "" "likely benign" "" "0000517625" "0" "50" "3" "123440993" "123440993" "subst" "0" "01943" "MYLK_000179" "g.123440993C>T" "" "" "" "MYLK(NM_053025.3):c.1786G>A (p.A596T), MYLK(NM_053025.4):c.1786G>A (p.(Ala596Thr), p.A596T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123722146C>T" "" "VUS" "" "0000517627" "0" "10" "3" "123451969" "123451969" "subst" "0.000220535" "01943" "MYLK_000180" "g.123451969A>G" "" "" "" "MYLK(NM_053025.3):c.1310-20T>C, MYLK(NM_053025.4):c.1310-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733122A>G" "" "benign" "" "0000517628" "0" "30" "3" "123451969" "123451969" "subst" "0.000220535" "02329" "MYLK_000180" "g.123451969A>G" "" "" "" "MYLK(NM_053025.3):c.1310-20T>C, MYLK(NM_053025.4):c.1310-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733122A>G" "" "likely benign" "" "0000517629" "0" "50" "3" "123452786" "123452786" "subst" "8.19531E-6" "02329" "MYLK_000181" "g.123452786G>T" "" "" "" "MYLK(NM_053025.4):c.1057C>A (p.Q353K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733939G>T" "" "VUS" "" "0000517630" "0" "50" "3" "123452799" "123452799" "del" "0" "01804" "MYLK_000182" "g.123452799del" "" "" "" "MYLK(NM_053025.3):c.1045del (p.(Ala349ProfsTer47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733952del" "" "VUS" "" "0000517631" "0" "30" "3" "123452836" "123452836" "subst" "0.00164522" "01804" "MYLK_000183" "g.123452836G>A" "" "" "" "MYLK(NM_053025.3):c.1007C>T (p.P336L, p.(Pro336Leu)), MYLK(NM_053025.4):c.1007C>T (p.P336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733989G>A" "" "likely benign" "" "0000517632" "0" "30" "3" "123452836" "123452836" "subst" "0.00164522" "02326" "MYLK_000183" "g.123452836G>A" "" "" "" "MYLK(NM_053025.3):c.1007C>T (p.P336L, p.(Pro336Leu)), MYLK(NM_053025.4):c.1007C>T (p.P336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733989G>A" "" "likely benign" "" "0000517633" "0" "30" "3" "123452836" "123452836" "subst" "0.00164522" "02329" "MYLK_000183" "g.123452836G>A" "" "" "" "MYLK(NM_053025.3):c.1007C>T (p.P336L, p.(Pro336Leu)), MYLK(NM_053025.4):c.1007C>T (p.P336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733989G>A" "" "likely benign" "" "0000517634" "0" "30" "3" "123452859" "123452859" "subst" "0.000599087" "01943" "MYLK_000184" "g.123452859C>T" "" "" "" "MYLK(NM_053025.3):c.984G>A (p.S328=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123734012C>T" "" "likely benign" "" "0000517635" "0" "50" "3" "123456224" "123456224" "subst" "4.06458E-6" "02325" "MYLK_000185" "g.123456224C>T" "" "" "" "MYLK(NM_053025.4):c.754+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123737377C>T" "" "VUS" "" "0000517636" "0" "30" "3" "123456262" "123456262" "subst" "2.84306E-5" "02329" "MYLK_000186" "g.123456262C>T" "" "" "" "MYLK(NM_053025.4):c.717G>A (p.S239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123737415C>T" "" "likely benign" "" "0000517637" "0" "30" "3" "123456268" "123456268" "subst" "7.71636E-5" "02329" "MYLK_000187" "g.123456268G>A" "" "" "" "MYLK(NM_053025.3):c.711C>T (p.N237=), MYLK(NM_053025.4):c.711C>T (p.N237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123737421G>A" "" "likely benign" "" "0000517638" "0" "50" "3" "123456282" "123456282" "subst" "0" "02329" "MYLK_000188" "g.123456282A>C" "" "" "" "MYLK(NM_053025.4):c.697T>G (p.C233G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123737435A>C" "" "VUS" "" "0000517639" "0" "30" "3" "123456295" "123456295" "subst" "0" "01943" "MYLK_000189" "g.123456295C>A" "" "" "" "MYLK(NM_053025.3):c.684G>T (p.V228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123737448C>A" "" "likely benign" "" "0000517640" "0" "50" "3" "123457757" "123457757" "subst" "0" "02329" "MYLK_000190" "g.123457757A>G" "" "" "" "MYLK(NM_053025.4):c.575T>C (p.V192A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123738910A>G" "" "VUS" "" "0000517641" "0" "50" "3" "123457839" "123457839" "del" "3.25778E-5" "01943" "MYLK_000191" "g.123457839del" "" "" "" "MYLK(NM_053025.3):c.493delA (p.(Thr165fs)), MYLK(NM_053025.3):c.493delA (p.T165Pfs*72), MYLK(NM_053025.4):c.493delA (p.T165Pfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123738992del" "" "VUS" "" "0000517642" "0" "50" "3" "123457839" "123457839" "del" "3.25778E-5" "01804" "MYLK_000191" "g.123457839del" "" "" "" "MYLK(NM_053025.3):c.493delA (p.(Thr165fs)), MYLK(NM_053025.3):c.493delA (p.T165Pfs*72), MYLK(NM_053025.4):c.493delA (p.T165Pfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123738992del" "" "VUS" "" "0000517643" "0" "50" "3" "123457839" "123457839" "del" "3.25778E-5" "02325" "MYLK_000191" "g.123457839del" "" "" "" "MYLK(NM_053025.3):c.493delA (p.(Thr165fs)), MYLK(NM_053025.3):c.493delA (p.T165Pfs*72), MYLK(NM_053025.4):c.493delA (p.T165Pfs*72)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123738992del" "" "VUS" "" "0000517645" "0" "30" "3" "123457877" "123457877" "subst" "0.00036636" "02325" "MYLK_000192" "g.123457877C>T" "" "" "" "MYLK(NM_053025.3):c.455G>A (p.R152H), MYLK(NM_053025.4):c.455G>A (p.R152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739030C>T" "" "likely benign" "" "0000517646" "0" "10" "3" "123457893" "123457893" "subst" "0.949225" "02325" "MYLK_000001" "g.123457893G>A" "" "" "" "MYLK(NM_053025.3):c.438_439delTCinsTT (p.P147S), MYLK(NM_053025.4):c.439C>T (p.P147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739046G>A" "" "benign" "" "0000517647" "0" "10" "3" "123457893" "123457893" "subst" "0.949225" "02329" "MYLK_000001" "g.123457893G>A" "" "" "" "MYLK(NM_053025.3):c.438_439delTCinsTT (p.P147S), MYLK(NM_053025.4):c.439C>T (p.P147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739046G>A" "" "benign" "" "0000517648" "0" "30" "3" "123458632" "123458632" "subst" "0" "02329" "MYLK_000193" "g.123458632C>G" "" "" "" "MYLK(NM_053025.4):c.422+168G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739785C>G" "" "likely benign" "" "0000517649" "0" "30" "3" "123458823" "123458823" "subst" "0.00183183" "01943" "MYLK_000194" "g.123458823C>A" "" "" "" "MYLK(NM_053025.3):c.399G>T (p.Q133H), MYLK(NM_053025.4):c.399G>T (p.Q133H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739976C>A" "" "likely benign" "" "0000517650" "0" "30" "3" "123458823" "123458823" "subst" "0.00183183" "02326" "MYLK_000194" "g.123458823C>A" "" "" "" "MYLK(NM_053025.3):c.399G>T (p.Q133H), MYLK(NM_053025.4):c.399G>T (p.Q133H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739976C>A" "" "likely benign" "" "0000517651" "0" "30" "3" "123458823" "123458823" "subst" "0.00183183" "02329" "MYLK_000194" "g.123458823C>A" "" "" "" "MYLK(NM_053025.3):c.399G>T (p.Q133H), MYLK(NM_053025.4):c.399G>T (p.Q133H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739976C>A" "" "likely benign" "" "0000517652" "0" "30" "3" "123458838" "123458838" "subst" "2.43728E-5" "01943" "MYLK_000195" "g.123458838C>T" "" "" "" "MYLK(NM_053025.3):c.384G>A (p.A128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739991C>T" "" "likely benign" "" "0000517653" "0" "30" "3" "123458840" "123458840" "subst" "0.00138518" "01804" "MYLK_000129" "g.123458840C>T" "" "" "" "MYLK(NM_053025.3):c.382G>A (p.(Ala128Thr)), MYLK(NM_053025.4):c.382G>A (p.A128T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739993C>T" "" "likely benign" "" "0000517654" "0" "10" "3" "123471160" "123471160" "subst" "0.000493386" "01943" "MYLK_000196" "g.123471160G>A" "" "" "" "MYLK(NM_053025.3):c.373+18C>T, MYLK(NM_053025.4):c.373+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123752313G>A" "" "benign" "" "0000517655" "0" "10" "3" "123471160" "123471160" "subst" "0.000493386" "02329" "MYLK_000196" "g.123471160G>A" "" "" "" "MYLK(NM_053025.3):c.373+18C>T, MYLK(NM_053025.4):c.373+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123752313G>A" "" "benign" "" "0000517656" "0" "50" "3" "123471221" "123471221" "subst" "0" "02326" "MYLK_000197" "g.123471221A>T" "" "" "" "MYLK(NM_053025.3):c.330T>A (p.N110K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123752374A>T" "" "VUS" "" "0000517657" "0" "30" "3" "123471239" "123471239" "subst" "2.844E-5" "01943" "MYLK_000198" "g.123471239A>G" "" "" "" "MYLK(NM_053025.3):c.312T>C (p.Y104=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123752392A>G" "" "likely benign" "" "0000517658" "0" "50" "3" "123471247" "123471247" "subst" "2.43799E-5" "01943" "MYLK_000130" "g.123471247C>G" "" "" "" "MYLK(NM_053025.3):c.304G>C (p.G102R, p.(Gly102Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123752400C>G" "" "VUS" "" "0000517659" "0" "30" "3" "123471295" "123471295" "subst" "0.000138225" "02325" "MYLK_000131" "g.123471295G>A" "" "" "" "MYLK(NM_053025.3):c.256C>T (p.R86W), MYLK(NM_053025.4):c.256C>T (p.R86W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123752448G>A" "" "likely benign" "" "0000517660" "0" "50" "3" "123471295" "123471295" "subst" "0.000138225" "02329" "MYLK_000131" "g.123471295G>A" "" "" "" "MYLK(NM_053025.3):c.256C>T (p.R86W), MYLK(NM_053025.4):c.256C>T (p.R86W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123752448G>A" "" "VUS" "" "0000517661" "0" "30" "3" "123471377" "123471377" "subst" "4.10324E-6" "02329" "MYLK_000199" "g.123471377A>G" "" "" "" "MYLK(NM_053025.4):c.174T>C (p.G58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123752530A>G" "" "likely benign" "" "0000608247" "0" "50" "3" "123337509" "123337509" "subst" "0.00027645" "02327" "MYLK_000139" "g.123337509G>A" "" "" "" "MYLK(NM_053025.3):c.5477C>T (p.A1826V), MYLK(NM_053025.4):c.5477C>T (p.A1826V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123618662G>A" "" "VUS" "" "0000608248" "0" "30" "3" "123348440" "123348440" "subst" "4.06081E-6" "02327" "MYLK_000202" "g.123348440G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123629593G>A" "" "likely benign" "" "0000608250" "0" "50" "3" "123366125" "123366125" "subst" "4.46726E-5" "02326" "MYLK_000145" "g.123366125A>G" "" "" "" "MYLK(NM_053025.3):c.4565T>C (p.V1522A), MYLK(NM_053025.4):c.4565T>C (p.V1522A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123647278A>G" "" "VUS" "" "0000608251" "0" "30" "3" "123376241" "123376241" "subst" "4.06507E-6" "02326" "MYLK_000204" "g.123376241G>C" "" "" "" "MYLK(NM_053025.3):c.4020C>G (p.A1340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123657394G>C" "" "likely benign" "" "0000608252" "0" "30" "3" "123385147" "123385147" "subst" "0.000207127" "02327" "MYLK_000205" "g.123385147G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123666300G>A" "" "likely benign" "" "0000608253" "0" "30" "3" "123401084" "123401084" "subst" "0.000237088" "02327" "MYLK_000046" "g.123401084C>T" "" "" "" "MYLK(NM_053025.4):c.3639G>A (p.V1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123682237C>T" "" "likely benign" "" "0000608254" "0" "30" "3" "123401113" "123401113" "subst" "0.000122766" "02327" "MYLK_000048" "g.123401113G>A" "" "" "" "MYLK(NM_053025.3):c.3610C>T (p.R1204W), MYLK(NM_053025.4):c.3610C>T (p.R1204W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123682266G>A" "" "likely benign" "" "0000608255" "0" "50" "3" "123420280" "123420280" "subst" "5.27966E-5" "01943" "MYLK_000206" "g.123420280C>T" "" "" "" "MYLK(NM_053025.3):c.2462+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123701433C>T" "" "VUS" "" "0000608256" "0" "50" "3" "123420286" "123420286" "subst" "0.000178687" "02327" "MYLK_000077" "g.123420286G>A" "" "" "" "MYLK(NM_053025.3):c.2461C>T (p.R821W), MYLK(NM_053025.4):c.2461C>T (p.R821W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123701439G>A" "" "VUS" "" "0000608257" "0" "50" "3" "123426787" "123426787" "subst" "0" "02327" "MYLK_000207" "g.123426787C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123707940C>T" "" "VUS" "" "0000608258" "0" "50" "3" "123427730" "123427730" "subst" "3.24868E-5" "01943" "MYLK_000208" "g.123427730G>C" "" "" "" "MYLK(NM_053025.3):c.1955C>G (p.P652R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708883G>C" "" "VUS" "" "0000608259" "0" "50" "3" "123440993" "123440993" "subst" "0" "02325" "MYLK_000179" "g.123440993C>T" "" "" "" "MYLK(NM_053025.3):c.1786G>A (p.A596T), MYLK(NM_053025.4):c.1786G>A (p.(Ala596Thr), p.A596T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123722146C>T" "" "VUS" "" "0000608260" "0" "50" "3" "123441055" "123441055" "subst" "6.0777E-5" "02327" "MYLK_000209" "g.123441055G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123722208G>A" "" "VUS" "" "0000608261" "0" "30" "3" "123441071" "123441071" "subst" "0" "02327" "MYLK_000210" "g.123441071T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123722224T>C" "" "likely benign" "" "0000608262" "0" "30" "3" "123441090" "123441090" "subst" "0" "02327" "MYLK_000211" "g.123441090G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123722243G>A" "" "likely benign" "" "0000608263" "0" "30" "3" "123452630" "123452630" "subst" "0.000130074" "02327" "MYLK_000212" "g.123452630T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733783T>C" "" "likely benign" "" "0000608264" "0" "30" "3" "123452810" "123452810" "subst" "8.19921E-6" "02327" "MYLK_000213" "g.123452810T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733963T>C" "" "likely benign" "" "0000608265" "0" "30" "3" "123452844" "123452844" "subst" "0.000402088" "02327" "MYLK_000112" "g.123452844C>T" "" "" "" "MYLK(NM_053025.3):c.999G>A (p.P333=), MYLK(NM_053025.4):c.999G>A (p.P333=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123733997C>T" "" "likely benign" "" "0000608266" "0" "30" "3" "123453084" "123453084" "subst" "2.9939E-5" "02327" "MYLK_000214" "g.123453084G>C" "" "" "" "MYLK(NM_053025.4):c.774-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123734237G>C" "" "likely benign" "" "0000608267" "0" "30" "3" "123453087" "123453087" "subst" "0.000473261" "02327" "MYLK_000215" "g.123453087T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123734240T>G" "" "likely benign" "" "0000608268" "0" "30" "3" "123458846" "123458846" "subst" "0" "01943" "MYLK_000216" "g.123458846T>G" "" "" "" "MYLK(NM_053025.3):c.376A>C (p.S126R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739999T>G" "" "likely benign" "" "0000620307" "0" "50" "3" "123401161" "123401161" "subst" "0" "01741" "MYLK_000201" "g.123401161G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123682314G>T" "" "VUS" "" "0000621160" "0" "30" "3" "123427615" "123427615" "subst" "5.68565E-5" "01943" "MYLK_000080" "g.123427615C>T" "" "" "" "MYLK(NM_053025.3):c.2070G>A (p.T690=), MYLK(NM_053025.4):c.2070G>A (p.T690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708768C>T" "" "likely benign" "" "0000651046" "1" "30" "3" "123451932" "123451932" "subst" "0.0140247" "03575" "MYLK_000104" "g.123451932G>A" "78/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "78 heterozygous; {DB:CLININrs35156360}" "Germline" "" "rs35156360" "0" "" "" "g.123733085G>A" "" "likely benign" "" "0000653054" "1" "50" "3" "123426842" "123426842" "subst" "0.000317719" "03575" "MYLK_000217" "g.123426842C>A" "25/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 25 heterozygous, no homozygous; {DB:CLININrs150936840}" "Germline" "" "rs150936840" "0" "" "" "g.123707995C>A" "" "VUS" "" "0000654771" "0" "50" "3" "123337509" "123337509" "subst" "0.00027645" "02326" "MYLK_000139" "g.123337509G>A" "" "" "" "MYLK(NM_053025.3):c.5477C>T (p.A1826V), MYLK(NM_053025.4):c.5477C>T (p.A1826V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123618662G>A" "" "VUS" "" "0000654772" "0" "30" "3" "123359271" "123359271" "subst" "5.27932E-5" "01943" "MYLK_000218" "g.123359271C>T" "" "" "" "MYLK(NM_053025.3):c.4700G>A (p.R1567Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123640424C>T" "" "likely benign" "" "0000654773" "0" "50" "3" "123359346" "123359346" "subst" "1.21993E-5" "01943" "MYLK_000203" "g.123359346G>A" "" "" "" "MYLK(NM_053025.3):c.4625C>T (p.S1542L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123640499G>A" "" "VUS" "" "0000654774" "0" "50" "3" "123383021" "123383021" "subst" "1.62485E-5" "01943" "MYLK_000219" "g.123383021C>T" "" "" "" "MYLK(NM_053025.3):c.3916G>A (p.G1306S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123664174C>T" "" "VUS" "" "0000654775" "0" "30" "3" "123419396" "123419396" "subst" "0.000158624" "02326" "MYLK_000164" "g.123419396C>T" "" "" "" "MYLK(NM_053025.3):c.2919G>A (p.P973=), MYLK(NM_053025.4):c.2919G>A (p.P973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123700549C>T" "" "likely benign" "" "0000654776" "0" "30" "3" "123427323" "123427323" "subst" "0" "02329" "MYLK_000220" "g.123427323G>A" "" "" "" "MYLK(NM_053025.4):c.2140+222C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123708476G>A" "" "likely benign" "" "0000654777" "0" "30" "3" "123427989" "123427989" "subst" "0" "02329" "MYLK_000221" "g.123427989T>C" "" "" "" "MYLK(NM_053025.4):c.1943-247A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123709142T>C" "" "likely benign" "" "0000654778" "0" "50" "3" "123457908" "123457908" "subst" "0" "02326" "MYLK_000222" "g.123457908C>A" "" "" "" "MYLK(NM_053025.3):c.424G>T (p.D142Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739061C>A" "" "VUS" "" "0000654779" "0" "10" "3" "123458786" "123458786" "subst" "0.00100724" "02329" "MYLK_000223" "g.123458786C>G" "" "" "" "MYLK(NM_053025.4):c.422+14G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123739939C>G" "" "benign" "" "0000654780" "0" "30" "3" "123459037" "123459037" "subst" "0" "02329" "MYLK_000224" "g.123459037T>C" "" "" "" "MYLK(NM_053025.4):c.374-189A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123740190T>C" "" "likely benign" "" "0000669734" "3" "30" "3" "123451932" "123451932" "subst" "0.0140247" "03575" "MYLK_000104" "g.123451932G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs35156360}" "Germline" "" "rs35156360" "0" "" "" "g.123733085G>A" "" "likely benign" "" "0000676796" "0" "30" "3" "123385245" "123385245" "subst" "0" "02329" "MYLK_000225" "g.123385245T>C" "" "" "" "MYLK(NM_053025.4):c.3704-52A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676797" "0" "30" "3" "123419720" "123419720" "subst" "3.66999E-5" "02326" "MYLK_000226" "g.123419720G>A" "" "" "" "MYLK(NM_053025.3):c.2595C>T (p.D865=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676798" "0" "30" "3" "123441106" "123441106" "subst" "2.82441E-5" "02326" "MYLK_000227" "g.123441106C>T" "" "" "" "MYLK(NM_053025.3):c.1673G>A (p.R558H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676799" "0" "30" "3" "123457727" "123457727" "subst" "2.19277E-5" "02329" "MYLK_000228" "g.123457727G>A" "" "" "" "MYLK(NM_053025.4):c.588+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676800" "0" "30" "3" "123603042" "123603042" "subst" "0" "02326" "MYLK_000229" "g.123603042G>C" "" "" "" "MYLK(NM_053025.3):c.-186+11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688904" "0" "30" "3" "123337117" "123337117" "subst" "0" "02329" "MYLK_000230" "g.123337117T>G" "" "" "" "MYLK(NM_053025.4):c.5500+369A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688905" "0" "30" "3" "123348211" "123348211" "subst" "0" "02329" "MYLK_000231" "g.123348211C>T" "" "" "" "MYLK(NM_053025.4):c.5114+110G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688906" "0" "30" "3" "123359074" "123359074" "subst" "0" "02329" "MYLK_000232" "g.123359074G>T" "" "" "" "MYLK(NM_053025.4):c.4837+60C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688907" "0" "30" "3" "123419396" "123419396" "subst" "0.000158624" "01943" "MYLK_000164" "g.123419396C>T" "" "" "" "MYLK(NM_053025.3):c.2919G>A (p.P973=), MYLK(NM_053025.4):c.2919G>A (p.P973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688908" "0" "50" "3" "123419717" "123419717" "subst" "5.7066E-5" "02325" "MYLK_000073" "g.123419717G>A" "" "" "" "MYLK(NM_053025.3):c.2598C>T (p.G866=), MYLK(NM_053025.4):c.2598C>T (p.G866=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688909" "0" "30" "3" "123420083" "123420083" "subst" "0" "02329" "MYLK_000233" "g.123420083G>T" "" "" "" "MYLK(NM_053025.4):c.2462+202C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688910" "0" "30" "3" "123426738" "123426738" "subst" "0.000584795" "02326" "MYLK_000170" "g.123426738G>A" "" "" "" "MYLK(NM_053025.3):c.2253C>T (p.T751=), MYLK(NM_053025.4):c.2253C>T (p.T751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688911" "0" "30" "3" "123428031" "123428031" "subst" "0" "02329" "MYLK_000234" "g.123428031A>G" "" "" "" "MYLK(NM_053025.4):c.1943-289T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000704356" "0" "50" "3" "123512550" "123512550" "subst" "0" "00006" "MYLK_000235" "g.123512550C>T" "" "{PMID:Isbister 2020:32931854}" "" "" "" "Germline" "" "" "0" "" "" "g.123793703C>T" "" "VUS" "ACMG" "0000719150" "0" "50" "3" "123333119" "123333119" "subst" "4.0626E-6" "01943" "MYLK_000236" "g.123333119C>T" "" "" "" "MYLK(NM_053025.3):c.5578G>A (p.D1860N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719151" "0" "30" "3" "123338998" "123338998" "subst" "0" "02329" "MYLK_000237" "g.123338998C>T" "" "" "" "MYLK(NM_053025.4):c.5368+56G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719152" "0" "30" "3" "123368045" "123368045" "subst" "0.000944818" "02326" "MYLK_000033" "g.123368045G>C" "" "" "" "MYLK(NM_053025.3):c.4289-4C>G, MYLK(NM_053025.4):c.4289-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719153" "0" "50" "3" "123376054" "123376054" "subst" "1.62472E-5" "01943" "MYLK_000238" "g.123376054G>A" "" "" "" "MYLK(NM_053025.3):c.4207C>T (p.R1403C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719154" "0" "50" "3" "123383036" "123383036" "subst" "7.31267E-5" "01943" "MYLK_000239" "g.123383036G>A" "" "" "" "MYLK(NM_053025.3):c.3901C>T (p.R1301C), MYLK(NM_053025.4):c.3901C>T (p.R1301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719155" "0" "30" "3" "123419105" "123419105" "subst" "5.28099E-5" "02326" "MYLK_000240" "g.123419105G>A" "" "" "" "MYLK(NM_053025.3):c.3210C>T (p.D1070=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719156" "0" "30" "3" "123419203" "123419203" "subst" "3.65482E-5" "01943" "MYLK_000241" "g.123419203T>C" "" "" "" "MYLK(NM_053025.3):c.3112A>G (p.M1038V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719157" "0" "30" "3" "123419654" "123419654" "subst" "0" "02329" "MYLK_000242" "g.123419654G>A" "" "" "" "MYLK(NM_053025.4):c.2661C>T (p.I887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719158" "0" "50" "3" "123419841" "123419841" "subst" "0.000148511" "02325" "MYLK_000167" "g.123419841G>A" "" "" "" "MYLK(NM_053025.3):c.2474C>T (p.P825L), MYLK(NM_053025.4):c.2474C>T (p.P825L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719159" "0" "30" "3" "123451924" "123451924" "subst" "1.22677E-5" "02329" "MYLK_000243" "g.123451924C>T" "" "" "" "MYLK(NM_053025.4):c.1335G>A (p.V445=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719160" "0" "30" "3" "123451945" "123451945" "subst" "4.53661E-5" "02329" "MYLK_000105" "g.123451945G>A" "" "" "" "MYLK(NM_053025.3):c.1314C>T (p.S438=), MYLK(NM_053025.4):c.1314C>T (p.S438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800924" "0" "30" "3" "123345782" "123345782" "subst" "0.000129961" "02326" "MYLK_000244" "g.123345782G>A" "" "" "" "MYLK(NM_053025.3):c.5121C>T (p.R1707=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800925" "0" "50" "3" "123345784" "123345784" "subst" "0" "01943" "MYLK_000245" "g.123345784G>A" "" "" "" "MYLK(NM_053025.3):c.5119C>T (p.R1707C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800926" "0" "30" "3" "123419093" "123419093" "subst" "0" "01943" "MYLK_000246" "g.123419093A>G" "" "" "" "MYLK(NM_053025.3):c.3222T>C (p.D1074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800927" "0" "30" "3" "123419711" "123419711" "subst" "1.62889E-5" "01943" "MYLK_000247" "g.123419711G>A" "" "" "" "MYLK(NM_053025.3):c.2604C>T (p.D868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800928" "0" "50" "3" "123420343" "123420343" "subst" "4.06088E-6" "02325" "MYLK_000248" "g.123420343C>T" "" "" "" "MYLK(NM_053025.4):c.2404G>A (p.E802K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800929" "0" "50" "3" "123426808" "123426808" "subst" "6.50502E-5" "01943" "MYLK_000171" "g.123426808C>T" "" "" "" "MYLK(NM_053025.3):c.2183G>A (p.R728H), MYLK(NM_053025.4):c.2183G>A (p.R728H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800930" "0" "30" "3" "123427717" "123427717" "subst" "0.00131971" "02325" "MYLK_000176" "g.123427717C>A" "" "" "" "MYLK(NM_053025.3):c.1968G>T (p.W656C, p.(Trp656Cys)), MYLK(NM_053025.4):c.1968G>T (p.W656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800931" "0" "50" "3" "123428632" "123428632" "subst" "0" "02325" "MYLK_000249" "g.123428632C>T" "" "" "" "MYLK(NM_053025.4):c.1913G>A (p.S638N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800932" "0" "30" "3" "123451897" "123451897" "subst" "0" "01943" "MYLK_000250" "g.123451897C>T" "" "" "" "MYLK(NM_053025.3):c.1362G>A (p.V454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800933" "0" "30" "3" "123451969" "123451969" "subst" "0.000220535" "02326" "MYLK_000180" "g.123451969A>G" "" "" "" "MYLK(NM_053025.3):c.1310-20T>C, MYLK(NM_053025.4):c.1310-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800934" "0" "30" "3" "123452836" "123452836" "subst" "0.00164522" "01943" "MYLK_000183" "g.123452836G>A" "" "" "" "MYLK(NM_053025.3):c.1007C>T (p.P336L, p.(Pro336Leu)), MYLK(NM_053025.4):c.1007C>T (p.P336L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800935" "0" "30" "3" "123456268" "123456268" "subst" "7.71636E-5" "02326" "MYLK_000187" "g.123456268G>A" "" "" "" "MYLK(NM_053025.3):c.711C>T (p.N237=), MYLK(NM_053025.4):c.711C>T (p.N237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800936" "0" "30" "3" "123457867" "123457867" "subst" "5.69522E-5" "01943" "MYLK_000251" "g.123457867G>T" "" "" "" "MYLK(NM_053025.3):c.465C>A (p.I155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800937" "0" "30" "3" "123471344" "123471344" "subst" "0.000321606" "01943" "MYLK_000132" "g.123471344G>A" "" "" "" "MYLK(NM_053025.3):c.207C>T (p.N69=), MYLK(NM_053025.4):c.207C>T (p.N69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831727" "0" "90" "3" "0" "0" "" "0" "00006" "OPA1_000149" "g.?" "1/128 cases FA" "{PMID:Overwater 2018:29907982}" "" "del ex17-18" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000831773" "1" "50" "3" "123457757" "123457757" "subst" "0" "00006" "MYLK_000190" "g.123457757A>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.123738910A>G" "" "VUS" "" "0000831774" "1" "50" "3" "123456262" "123456262" "subst" "2.84306E-5" "00006" "MYLK_000186" "g.123456262C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.123737415C>T" "" "VUS" "" "0000831775" "1" "50" "3" "123452786" "123452786" "subst" "8.19531E-6" "00006" "MYLK_000181" "g.123452786G>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.123733939G>T" "" "VUS" "" "0000831776" "1" "50" "3" "123420286" "123420286" "subst" "0.000178687" "00006" "MYLK_000077" "g.123420286G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.123701439G>A" "" "VUS" "" "0000831777" "1" "50" "3" "123420286" "123420286" "subst" "0.000178687" "00006" "MYLK_000077" "g.123420286G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.123701439G>A" "" "VUS" "" "0000831778" "1" "50" "3" "123419194" "123419194" "subst" "8.12123E-6" "00006" "MYLK_000162" "g.123419194C>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.123700347C>T" "" "VUS" "" "0000831779" "1" "50" "3" "123401113" "123401113" "subst" "0.000122766" "00006" "MYLK_000048" "g.123401113G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.123682266G>A" "" "VUS" "" "0000831780" "1" "50" "3" "123376039" "123376039" "subst" "4.06263E-6" "00006" "MYLK_000151" "g.123376039T>C" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.123657192T>C" "" "VUS" "" "0000831781" "1" "50" "3" "123366125" "123366125" "subst" "4.46726E-5" "00006" "MYLK_000145" "g.123366125A>G" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123647278A>G" "" "VUS" "" "0000831782" "1" "50" "3" "123357029" "123357029" "subst" "4.062E-6" "00006" "MYLK_000142" "g.123357029G>T" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "" "" "0" "" "" "g.123638182G>T" "" "VUS" "" "0000831812" "1" "50" "3" "123337509" "123337509" "subst" "0.00027645" "00006" "MYLK_000139" "g.123337509G>A" "" "{PMID:Overwater 2018:29907982}" "" "" "" "Germline" "yes" "" "0" "" "" "g.123618662G>A" "" "VUS" "" "0000832161" "0" "70" "3" "123419622" "123419622" "subst" "0.000255896" "00006" "MYLK_000252" "g.123419622C>T" "" "{PMID:Schubert 2016:26854089}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000850103" "0" "30" "3" "123356938" "123356938" "subst" "3.24929E-5" "01943" "MYLK_000253" "g.123356938G>A" "" "" "" "MYLK(NM_053025.3):c.4941C>T (p.I1647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850104" "0" "30" "3" "123411622" "123411622" "subst" "0.00170639" "02326" "MYLK_000255" "g.123411622G>A" "" "" "" "MYLK(NM_053025.3):c.3525C>T (p.D1175=), MYLK(NM_053025.4):c.3525C>T (p.D1175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850105" "0" "30" "3" "123418852" "123418852" "subst" "0.00161043" "02326" "MYLK_000256" "g.123418852C>T" "" "" "" "MYLK(NM_053025.3):c.3448+15G>A, MYLK(NM_053025.4):c.3448+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850106" "0" "30" "3" "123418877" "123418877" "subst" "0.000187021" "01943" "MYLK_000257" "g.123418877G>A" "" "" "" "MYLK(NM_053025.3):c.3438C>T (p.L1146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850107" "0" "30" "3" "123418964" "123418964" "subst" "0" "02329" "MYLK_000258" "g.123418964G>T" "" "" "" "MYLK(NM_053025.4):c.3351C>A (p.L1117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850108" "0" "30" "3" "123419240" "123419240" "subst" "0.00168566" "02326" "MYLK_000259" "g.123419240G>A" "" "" "" "MYLK(NM_053025.3):c.3075C>T (p.P1025=), MYLK(NM_053025.4):c.3075C>T (p.P1025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850109" "0" "30" "3" "123419726" "123419726" "subst" "0.000102047" "02329" "MYLK_000260" "g.123419726C>T" "" "" "" "MYLK(NM_053025.4):c.2589G>A (p.E863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850110" "0" "30" "3" "123451743" "123451743" "subst" "0.00117068" "02326" "MYLK_000102" "g.123451743T>C" "" "" "" "MYLK(NM_053025.3):c.1516A>G (p.R506G), MYLK(NM_053025.4):c.1516A>G (p.R506G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858771" "0" "30" "3" "123411610" "123411610" "subst" "6.90714E-5" "01943" "MYLK_000254" "g.123411610C>T" "" "" "" "MYLK(NM_053025.3):c.3537G>A (p.A1179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885510" "0" "30" "3" "123333021" "123333021" "subst" "0" "02329" "MYLK_000261" "g.123333021G>A" "" "" "" "MYLK(NM_053025.4):c.5676C>T (p.T1892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885511" "0" "50" "3" "123345771" "123345771" "subst" "2.8428E-5" "02326" "MYLK_000262" "g.123345771G>A" "" "" "" "MYLK(NM_053025.3):c.5132C>T (p.T1711M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885512" "0" "30" "3" "123356950" "123356950" "subst" "5.27953E-5" "02326" "MYLK_000263" "g.123356950G>A" "" "" "" "MYLK(NM_053025.3):c.4929C>T (p.D1643=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885513" "0" "30" "3" "123367884" "123367884" "subst" "0.00106409" "02326" "MYLK_000147" "g.123367884C>T" "" "" "" "MYLK(NM_053025.3):c.4349G>A (p.R1450Q), MYLK(NM_053025.4):c.4349G>A (p.R1450Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885514" "0" "30" "3" "123368045" "123368045" "subst" "1.22175E-5" "02326" "MYLK_000264" "g.123368045G>T" "" "" "" "MYLK(NM_053025.3):c.4289-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885515" "0" "30" "3" "123419684" "123419684" "subst" "4.87591E-5" "02329" "MYLK_000265" "g.123419684C>T" "" "" "" "MYLK(NM_053025.4):c.2631G>A (p.V877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885516" "0" "10" "3" "123426603" "123426603" "subst" "0.00211968" "02329" "MYLK_000169" "g.123426603G>A" "" "" "" "MYLK(NM_053025.3):c.2388C>T (p.L796=), MYLK(NM_053025.4):c.2388C>T (p.L796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885517" "0" "30" "3" "123444833" "123444833" "subst" "0.000443295" "02326" "MYLK_000099" "g.123444833C>T" "" "" "" "MYLK(NM_053025.3):c.1609G>A (p.V537I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885518" "0" "10" "3" "123451727" "123451727" "subst" "0.00340371" "02326" "MYLK_000101" "g.123451727G>A" "" "" "" "MYLK(NM_053025.3):c.1516+16C>T, MYLK(NM_053025.4):c.1516+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885519" "0" "50" "3" "123452599" "123452599" "subst" "0" "02325" "MYLK_000266" "g.123452599T>C" "" "" "" "MYLK(NM_053025.4):c.1244A>G (p.K415R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885520" "0" "30" "3" "123452850" "123452850" "subst" "0.000164127" "02326" "MYLK_000267" "g.123452850C>T" "" "" "" "MYLK(NM_053025.3):c.993G>A (p.T331=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885521" "0" "10" "3" "123456327" "123456327" "subst" "0.00111269" "02326" "MYLK_000119" "g.123456327G>A" "" "" "" "MYLK(NM_053025.3):c.652C>T (p.L218=), MYLK(NM_053025.4):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885522" "0" "10" "3" "123457853" "123457853" "subst" "0.00111154" "02326" "MYLK_000124" "g.123457853G>C" "" "" "" "MYLK(NM_053025.3):c.479C>G (p.P160R), MYLK(NM_053025.4):c.479C>G (p.P160R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885523" "0" "50" "3" "123457869" "123457869" "subst" "1.62713E-5" "02325" "MYLK_000125" "g.123457869T>C" "" "" "" "MYLK(NM_053025.3):c.463A>G (p.I155V), MYLK(NM_053025.4):c.463A>G (p.I155V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885524" "0" "30" "3" "123457877" "123457877" "subst" "0.00036636" "02326" "MYLK_000192" "g.123457877C>T" "" "" "" "MYLK(NM_053025.3):c.455G>A (p.R152H), MYLK(NM_053025.4):c.455G>A (p.R152H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885525" "0" "30" "3" "123512665" "123512665" "subst" "0.000613607" "02326" "MYLK_000200" "g.123512665G>C" "" "" "" "MYLK(NM_053025.3):c.24C>G (p.A8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911809" "0" "50" "3" "123339134" "123339134" "subst" "0" "02329" "MYLK_000268" "g.123339134A>G" "" "" "" "MYLK(NM_053025.4):c.5288T>C (p.M1763T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911810" "0" "30" "3" "123348434" "123348434" "subst" "6.4972E-5" "02326" "MYLK_000141" "g.123348434G>A" "" "" "" "MYLK(NM_053025.3):c.5001C>T (p.N1667=), MYLK(NM_053025.4):c.5001C>T (p.N1667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911811" "0" "50" "3" "123376125" "123376125" "subst" "0" "02329" "MYLK_000269" "g.123376125T>G" "" "" "" "MYLK(NM_053025.4):c.4136A>C (p.K1379T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911812" "0" "30" "3" "123419417" "123419417" "subst" "2.84671E-5" "02329" "MYLK_000067" "g.123419417G>A" "" "" "" "MYLK(NM_053025.3):c.2898C>T (p.P966=), MYLK(NM_053025.4):c.2898C>T (p.P966=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911813" "0" "30" "3" "123419841" "123419841" "subst" "0.000148511" "02326" "MYLK_000167" "g.123419841G>A" "" "" "" "MYLK(NM_053025.3):c.2474C>T (p.P825L), MYLK(NM_053025.4):c.2474C>T (p.P825L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911814" "0" "50" "3" "123426842" "123426842" "subst" "0.000317719" "02325" "MYLK_000217" "g.123426842C>A" "" "" "" "MYLK(NM_053025.3):c.2149G>T (p.(Asp717Tyr)), MYLK(NM_053025.4):c.2149G>T (p.D717Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911815" "0" "30" "3" "123427560" "123427560" "subst" "0.000215658" "02329" "MYLK_000173" "g.123427560C>T" "" "" "" "MYLK(NM_053025.3):c.2125G>A (p.V709M), MYLK(NM_053025.4):c.2125G>A (p.V709M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917194" "0" "50" "3" "123451884" "123451884" "subst" "8.14094E-6" "03779" "MYLK_000270" "g.123451884C>T" "" "" "" "" "" "Unknown" "" "rs147311651" "0" "" "" "" "" "VUS" "" "0000923814" "0" "50" "3" "123376179" "123376179" "subst" "0" "02329" "MYLK_000271" "g.123376179C>T" "" "" "" "MYLK(NM_053025.4):c.4082G>A (p.S1361N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923815" "0" "50" "3" "123401130" "123401130" "del" "0" "02326" "MYLK_000272" "g.123401130del" "" "" "" "MYLK(NM_053025.3):c.3596delC (p.P1199Qfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923816" "0" "10" "3" "123411622" "123411622" "subst" "0.00170639" "02329" "MYLK_000255" "g.123411622G>A" "" "" "" "MYLK(NM_053025.3):c.3525C>T (p.D1175=), MYLK(NM_053025.4):c.3525C>T (p.D1175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923817" "0" "10" "3" "123418852" "123418852" "subst" "0.00161043" "02329" "MYLK_000256" "g.123418852C>T" "" "" "" "MYLK(NM_053025.3):c.3448+15G>A, MYLK(NM_053025.4):c.3448+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923818" "0" "30" "3" "123419132" "123419132" "subst" "0.000154329" "02329" "MYLK_000273" "g.123419132G>A" "" "" "" "MYLK(NM_053025.3):c.3183C>T (p.S1061=), MYLK(NM_053025.4):c.3183C>T (p.S1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923819" "0" "10" "3" "123419240" "123419240" "subst" "0.00168566" "02329" "MYLK_000259" "g.123419240G>A" "" "" "" "MYLK(NM_053025.3):c.3075C>T (p.P1025=), MYLK(NM_053025.4):c.3075C>T (p.P1025=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923820" "0" "30" "3" "123428829" "123428829" "subst" "0" "02329" "MYLK_000274" "g.123428829T>G" "" "" "" "MYLK(NM_053025.4):c.1805-89A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923821" "0" "30" "3" "123444576" "123444576" "subst" "0" "02329" "MYLK_000275" "g.123444576G>A" "" "" "" "MYLK(NM_053025.4):c.1651+215C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928690" "0" "30" "3" "123348434" "123348434" "subst" "6.4972E-5" "02329" "MYLK_000141" "g.123348434G>A" "" "" "" "MYLK(NM_053025.3):c.5001C>T (p.N1667=), MYLK(NM_053025.4):c.5001C>T (p.N1667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928691" "0" "30" "3" "123385349" "123385349" "subst" "0" "02329" "MYLK_000276" "g.123385349C>T" "" "" "" "MYLK(NM_053025.4):c.3704-156G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928692" "0" "50" "3" "123418911" "123418911" "subst" "0" "02325" "MYLK_000277" "g.123418911C>A" "" "" "" "MYLK(NM_053025.4):c.3404G>T (p.G1135V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928693" "0" "30" "3" "123456208" "123456208" "subst" "0.0001385" "02329" "MYLK_000278" "g.123456208C>T" "" "" "" "MYLK(NM_053025.4):c.754+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948001" "0" "30" "3" "123368038" "123368038" "subst" "5.29096E-5" "02327" "MYLK_000279" "g.123368038G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948002" "0" "50" "3" "123376205" "123376205" "subst" "0" "02326" "MYLK_000280" "g.123376205C>A" "" "" "" "MYLK(NM_053025.3):c.4056G>T (p.W1352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948003" "0" "30" "3" "123376422" "123376422" "subst" "0" "02329" "MYLK_000281" "g.123376422A>G" "" "" "" "MYLK(NM_053025.4):c.3986-147T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948004" "0" "30" "3" "123426603" "123426603" "subst" "0.00211968" "02326" "MYLK_000169" "g.123426603G>A" "" "" "" "MYLK(NM_053025.3):c.2388C>T (p.L796=), MYLK(NM_053025.4):c.2388C>T (p.L796=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948005" "0" "30" "3" "123426738" "123426738" "subst" "0.000584795" "02329" "MYLK_000170" "g.123426738G>A" "" "" "" "MYLK(NM_053025.3):c.2253C>T (p.T751=), MYLK(NM_053025.4):c.2253C>T (p.T751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948006" "0" "30" "3" "123471160" "123471160" "subst" "0" "02329" "MYLK_000282" "g.123471160G>C" "" "" "" "MYLK(NM_053025.4):c.373+18C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962440" "0" "30" "3" "123337627" "123337627" "subst" "0.000203752" "02326" "MYLK_000283" "g.123337627A>C" "" "" "" "MYLK(NM_053025.3):c.5369-10T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962441" "0" "30" "3" "123345874" "123345874" "subst" "0" "02329" "MYLK_000284" "g.123345874C>T" "" "" "" "MYLK(NM_053025.4):c.5115-86G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962442" "0" "10" "3" "123356799" "123356799" "subst" "0" "02329" "MYLK_000285" "g.123356799G>T" "" "" "" "MYLK(NM_053025.4):c.4961+119C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962443" "0" "30" "3" "123356870" "123356870" "subst" "0.000191286" "02329" "MYLK_000286" "g.123356870C>G" "" "" "" "MYLK(NM_053025.4):c.4961+48G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962444" "0" "30" "3" "123368050" "123368051" "dup" "0" "02326" "MYLK_000287" "g.123368050_123368051dup" "" "" "" "MYLK(NM_053025.3):c.4289-4_4289-3dupCC, MYLK(NM_053025.4):c.4289-4_4289-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962445" "0" "30" "3" "123368288" "123368288" "subst" "0" "02329" "MYLK_000288" "g.123368288C>T" "" "" "" "MYLK(NM_053025.4):c.4289-247G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962446" "0" "30" "3" "123382683" "123382683" "subst" "0" "02329" "MYLK_000289" "g.123382683C>G" "" "" "" "MYLK(NM_053025.4):c.3985+269G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962447" "0" "30" "3" "123382883" "123382883" "subst" "0" "02329" "MYLK_000290" "g.123382883G>A" "" "" "" "MYLK(NM_053025.4):c.3985+69C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962448" "0" "30" "3" "123401347" "123401347" "subst" "0" "02329" "MYLK_000291" "g.123401347G>A" "" "" "" "MYLK(NM_053025.4):c.3566-190C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962449" "0" "30" "3" "123419132" "123419132" "subst" "0.000154329" "02326" "MYLK_000273" "g.123419132G>A" "" "" "" "MYLK(NM_053025.3):c.3183C>T (p.S1061=), MYLK(NM_053025.4):c.3183C>T (p.S1061=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962450" "0" "30" "3" "123427100" "123427100" "subst" "0" "02329" "MYLK_000292" "g.123427100C>T" "" "" "" "MYLK(NM_053025.4):c.2141-250G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962451" "0" "30" "3" "123440879" "123440879" "subst" "0" "02329" "MYLK_000293" "g.123440879G>T" "" "" "" "MYLK(NM_053025.4):c.1804+96C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962452" "0" "30" "3" "123452624" "123452624" "subst" "9.35111E-5" "02329" "MYLK_000294" "g.123452624C>A" "" "" "" "MYLK(NM_053025.4):c.1219G>T (p.G407C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962453" "0" "30" "3" "123456298" "123456298" "subst" "4.46675E-5" "02329" "MYLK_000295" "g.123456298G>A" "" "" "" "MYLK(NM_053025.4):c.681C>T (p.D227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962454" "0" "10" "3" "123456327" "123456327" "subst" "0.00111269" "02329" "MYLK_000119" "g.123456327G>A" "" "" "" "MYLK(NM_053025.3):c.652C>T (p.L218=), MYLK(NM_053025.4):c.652C>T (p.L218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962455" "0" "10" "3" "123457853" "123457853" "subst" "0.00111154" "02329" "MYLK_000124" "g.123457853G>C" "" "" "" "MYLK(NM_053025.3):c.479C>G (p.P160R), MYLK(NM_053025.4):c.479C>G (p.P160R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962456" "0" "30" "3" "123471545" "123471545" "subst" "0" "02329" "MYLK_000296" "g.123471545T>A" "" "" "" "MYLK(NM_053025.4):c.166-160A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975516" "0" "30" "3" "123356926" "123356926" "subst" "2.03061E-5" "02329" "MYLK_000297" "g.123356926G>A" "" "" "" "MYLK(NM_053025.4):c.4953C>T (p.C1651=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975517" "0" "50" "3" "123359158" "123359158" "subst" "0" "02326" "MYLK_000298" "g.123359158C>T" "" "" "" "MYLK(NM_053025.3):c.4813G>A (p.D1605N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975518" "0" "30" "3" "123359355" "123359355" "subst" "0.000101781" "02326" "MYLK_000019" "g.123359355C>T" "" "" "" "MYLK(NM_053025.3):c.4620-4G>A, MYLK(NM_053025.4):c.4620-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975519" "0" "30" "3" "123366221" "123366221" "subst" "4.46762E-5" "01804" "MYLK_000299" "g.123366221C>A" "" "" "" "MYLK(NM_053025.4):c.4469G>T (p.(Trp1490Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975520" "0" "50" "3" "123419538" "123419538" "subst" "3.65467E-5" "02329" "MYLK_000300" "g.123419538C>T" "" "" "" "MYLK(NM_053025.4):c.2777G>A (p.R926H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975521" "0" "50" "3" "123427637" "123427637" "subst" "0" "01804" "MYLK_000301" "g.123427637T>G" "" "" "" "MYLK(NM_053025.4):c.2048A>C (p.(Gln683Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975522" "0" "50" "3" "123440993" "123440993" "subst" "0" "01804" "MYLK_000179" "g.123440993C>T" "" "" "" "MYLK(NM_053025.3):c.1786G>A (p.A596T), MYLK(NM_053025.4):c.1786G>A (p.(Ala596Thr), p.A596T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975523" "0" "50" "3" "123452572" "123452572" "subst" "8.15215E-6" "01804" "MYLK_000302" "g.123452572T>A" "" "" "" "MYLK(NM_053025.4):c.1271A>T (p.(Glu424Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975524" "0" "30" "3" "123453079" "123453079" "subst" "0" "01804" "MYLK_000303" "g.123453079G>A" "" "" "" "MYLK(NM_053025.4):c.774-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975525" "0" "30" "3" "123457878" "123457878" "subst" "6.10545E-5" "02327" "MYLK_000304" "g.123457878G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993204" "0" "50" "3" "123366125" "123366125" "subst" "4.46726E-5" "02327" "MYLK_000145" "g.123366125A>G" "" "" "" "MYLK(NM_053025.3):c.4565T>C (p.V1522A), MYLK(NM_053025.4):c.4565T>C (p.V1522A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993205" "0" "50" "3" "123376066" "123376066" "subst" "0.000532036" "02325" "MYLK_000305" "g.123376066C>T" "" "" "" "MYLK(NM_053025.4):c.4195G>A (p.E1399K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993206" "0" "30" "3" "123376274" "123376274" "subst" "0" "02329" "MYLK_000306" "g.123376274A>T" "" "" "" "MYLK(NM_053025.4):c.3987T>A (p.D1329E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993207" "0" "50" "3" "123383038" "123383038" "subst" "1.21881E-5" "01804" "MYLK_000307" "g.123383038G>A" "" "" "" "MYLK(NM_053025.3):c.3899C>T (p.(Ala1300Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993208" "0" "30" "3" "123383039" "123383039" "subst" "0.000503811" "02329" "MYLK_000040" "g.123383039C>T" "" "" "" "MYLK(NM_053025.3):c.3898G>A (p.A1300T), MYLK(NM_053025.4):c.3898G>A (p.A1300T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993209" "0" "50" "3" "123385073" "123385073" "subst" "1.21823E-5" "01804" "MYLK_000155" "g.123385073C>T" "" "" "" "MYLK(NM_053025.3):c.3824G>A (p.R1275Q, p.(Arg1275Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993210" "0" "50" "3" "123401086" "123401086" "subst" "4.00927E-5" "01804" "MYLK_000047" "g.123401086C>G" "" "" "" "MYLK(NM_053025.3):c.3637G>C (p.V1213L, p.(Val1213Leu)), MYLK(NM_053025.4):c.3637G>C (p.V1213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993211" "0" "50" "3" "123420280" "123420280" "subst" "5.27966E-5" "01804" "MYLK_000206" "g.123420280C>T" "" "" "" "MYLK(NM_053025.3):c.2462+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993212" "0" "50" "3" "123426842" "123426842" "subst" "0.000317719" "01804" "MYLK_000217" "g.123426842C>A" "" "" "" "MYLK(NM_053025.3):c.2149G>T (p.(Asp717Tyr)), MYLK(NM_053025.4):c.2149G>T (p.D717Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993213" "0" "50" "3" "123426842" "123426842" "subst" "9.36864E-5" "01804" "MYLK_000308" "g.123426842C>T" "" "" "" "MYLK(NM_053025.3):c.2149G>A (p.(Asp717Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993214" "0" "50" "3" "123452702" "123452702" "subst" "8.14611E-6" "01804" "MYLK_000309" "g.123452702T>C" "" "" "" "MYLK(NM_053025.3):c.1141A>G (p.(Thr381Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993215" "0" "30" "3" "123452716" "123452716" "subst" "0" "01804" "MYLK_000310" "g.123452716G>A" "" "" "" "MYLK(NM_053025.3):c.1127C>T (p.(Pro376Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993216" "0" "90" "3" "123452786" "123452786" "subst" "0" "02326" "MYLK_000311" "g.123452786G>A" "" "" "" "MYLK(NM_053025.3):c.1057C>T (p.Q353*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993217" "0" "30" "3" "123454178" "123454178" "subst" "0" "02329" "MYLK_000312" "g.123454178T>A" "" "" "" "MYLK(NM_053025.4):c.773+67A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993218" "0" "50" "3" "123471247" "123471247" "subst" "2.43799E-5" "01804" "MYLK_000130" "g.123471247C>G" "" "" "" "MYLK(NM_053025.3):c.304G>C (p.G102R, p.(Gly102Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993219" "0" "50" "3" "123471295" "123471295" "subst" "0.000138225" "02326" "MYLK_000131" "g.123471295G>A" "" "" "" "MYLK(NM_053025.3):c.256C>T (p.R86W), MYLK(NM_053025.4):c.256C>T (p.R86W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013804" "0" "30" "3" "123359355" "123359355" "subst" "0.000101781" "02325" "MYLK_000019" "g.123359355C>T" "" "" "" "MYLK(NM_053025.3):c.4620-4G>A, MYLK(NM_053025.4):c.4620-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013805" "0" "30" "3" "123411574" "123411574" "subst" "7.73093E-5" "02329" "MYLK_000313" "g.123411574C>T" "" "" "" "MYLK(NM_053025.4):c.3565+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013806" "0" "50" "3" "123411713" "123411713" "subst" "4.47173E-5" "02329" "MYLK_000314" "g.123411713T>C" "" "" "" "MYLK(NM_053025.4):c.3449-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013807" "0" "30" "3" "123453084" "123453084" "subst" "2.9939E-5" "02329" "MYLK_000214" "g.123453084G>C" "" "" "" "MYLK(NM_053025.4):c.774-15C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024712" "0" "30" "3" "123368045" "123368045" "subst" "0.000944818" "01943" "MYLK_000033" "g.123368045G>C" "" "" "" "MYLK(NM_053025.3):c.4289-4C>G, MYLK(NM_053025.4):c.4289-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024713" "0" "30" "3" "123376037" "123376037" "subst" "2.03166E-5" "02329" "MYLK_000315" "g.123376037G>A" "" "" "" "MYLK(NM_053025.4):c.4224C>T (p.N1408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024714" "0" "50" "3" "123376135" "123376135" "subst" "0" "02325" "MYLK_000316" "g.123376135T>G" "" "" "" "MYLK(NM_053025.4):c.4126A>C (p.K1376Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024715" "0" "30" "3" "123471291" "123471291" "subst" "0.000813021" "02329" "MYLK_000317" "g.123471291C>T" "" "" "" "MYLK(NM_053025.4):c.260G>A (p.G87E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033611" "0" "50" "3" "123332957" "123332957" "subst" "8.13319E-6" "01804" "MYLK_000318" "g.123332957C>A" "" "" "" "MYLK(NM_053025.4):c.5740G>T (p.(Glu1914*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033612" "0" "50" "3" "123332961" "123332963" "del" "0" "01804" "MYLK_000319" "g.123332961_123332963del" "" "" "" "MYLK(NM_053025.4):c.5739_5741del (p.(Glu1914del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033613" "0" "50" "3" "123366083" "123366083" "subst" "0" "02325" "MYLK_000320" "g.123366083A>G" "" "" "" "MYLK(NM_053025.4):c.4607T>C (p.M1536T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033614" "0" "30" "3" "123368050" "123368051" "dup" "0" "01804" "MYLK_000287" "g.123368050_123368051dup" "" "" "" "MYLK(NM_053025.3):c.4289-4_4289-3dupCC, MYLK(NM_053025.4):c.4289-4_4289-3dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033615" "0" "50" "3" "123411621" "123411621" "subst" "0" "01804" "MYLK_000051" "g.123411621C>T" "" "" "" "MYLK(NM_053025.3):c.3526G>A (p.A1176T), MYLK(NM_053025.4):c.3526G>A (p.(Ala1176Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033616" "0" "50" "3" "123419188" "123419188" "subst" "2.03034E-5" "01804" "MYLK_000321" "g.123419188G>C" "" "" "" "MYLK(NM_053025.4):c.3127C>G (p.(Pro1043Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033617" "0" "50" "3" "123419751" "123419751" "subst" "1.64213E-5" "01804" "MYLK_000322" "g.123419751G>A" "" "" "" "MYLK(NM_053025.4):c.2564C>T (p.(Ala855Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033618" "0" "50" "3" "123428650" "123428650" "subst" "0" "01804" "MYLK_000323" "g.123428650A>G" "" "" "" "MYLK(NM_053025.4):c.1895T>C (p.(Leu632Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033619" "0" "50" "3" "123512570" "123512570" "subst" "2.03168E-5" "01804" "MYLK_000324" "g.123512570C>T" "" "" "" "MYLK(NM_053025.4):c.119G>A (p.(Arg40Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033620" "0" "50" "3" "123512691" "123512691" "subst" "0" "01804" "MYLK_000325" "g.123512691T>C" "" "" "" "MYLK(NM_053025.4):c.-3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045870" "0" "30" "3" "123383036" "123383036" "subst" "7.31267E-5" "02325" "MYLK_000239" "g.123383036G>A" "" "" "" "MYLK(NM_053025.3):c.3901C>T (p.R1301C), MYLK(NM_053025.4):c.3901C>T (p.R1301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045871" "0" "30" "3" "123427694" "123427694" "subst" "0.000491339" "02326" "MYLK_000081" "g.123427694T>C" "" "" "" "MYLK(NM_053025.3):c.1991A>G (p.Q664R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045872" "0" "50" "3" "123427734" "123427734" "subst" "0" "02325" "MYLK_000326" "g.123427734G>C" "" "" "" "MYLK(NM_053025.4):c.1951C>G (p.P651A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045873" "0" "50" "3" "123444857" "123444857" "subst" "0" "02325" "MYLK_000327" "g.123444857G>A" "" "" "" "MYLK(NM_053025.4):c.1585C>T (p.Q529*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048777" "0" "50" "3" "123419495" "123419495" "subst" "0" "03779" "MYLK_000068" "g.123419495C>A" "" "" "" "" "" "Unknown" "" "rs1432850591" "0" "" "" "" "" "VUS" "" ## 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 MYLK ## Count = 473 "{{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}}" "0000040191" "00014161" "70" "439" "0" "439" "0" "c.439C>T" "r.(439C>T)" "p.(Pro147Ser)" "8" "0000096564" "00014161" "50" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115His)" "5" "0000096964" "00014161" "50" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Ser497Phe)" "11" "0000168852" "00014161" "50" "3749" "0" "3749" "0" "c.3749G>A" "r.(?)" "p.(Arg1250His)" "22" "0000249900" "00014161" "10" "4842" "0" "4842" "0" "c.4842T>C" "r.(?)" "p.(Asn1614=)" "" "0000249901" "00014161" "10" "4317" "0" "4317" "0" "c.4317T>C" "r.(?)" "p.(Asp1439=)" "" "0000249916" "00014161" "10" "2582" "0" "2582" "0" "c.2582T>C" "r.(?)" "p.(Leu861Pro)" "" "0000249918" "00014161" "10" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Val261Ala)" "" "0000249921" "00014161" "10" "1651" "6" "1651" "6" "c.1651+6T>A" "r.(=)" "p.(=)" "" "0000250535" "00014161" "50" "4425" "0" "4425" "0" "c.4425T>G" "r.(?)" "p.(Phe1475Leu)" "" "0000253124" "00014161" "10" "4842" "0" "4842" "0" "c.4842T>C" "r.(?)" "p.(Asn1614=)" "" "0000253125" "00014161" "10" "4317" "0" "4317" "0" "c.4317T>C" "r.(?)" "p.(Asp1439=)" "" "0000253140" "00014161" "10" "2582" "0" "2582" "0" "c.2582T>C" "r.(?)" "p.(Leu861Pro)" "" "0000253142" "00014161" "10" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Val261Ala)" "" "0000253145" "00014161" "10" "1651" "6" "1651" "6" "c.1651+6T>A" "r.(=)" "p.(=)" "" "0000255214" "00014161" "30" "4416" "-10" "4416" "-10" "c.4416-10T>C" "r.(=)" "p.(=)" "" "0000256489" "00014161" "50" "745" "0" "745" "0" "c.745T>G" "r.(?)" "p.(Ser249Ala)" "" "0000256629" "00014161" "50" "4468" "0" "4468" "0" "c.4468T>C" "r.(?)" "p.(Trp1490Arg)" "" "0000296193" "00014161" "10" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Thr335=)" "" "0000296194" "00014161" "10" "1486" "0" "1486" "0" "c.1486C>G" "r.(?)" "p.(Leu496Val)" "" "0000296195" "00014161" "10" "1804" "8" "1804" "8" "c.1804+8C>T" "r.(=)" "p.(=)" "" "0000296196" "00014161" "10" "3402" "0" "3402" "0" "c.3402C>T" "r.(?)" "p.(Asn1134=)" "" "0000298469" "00014161" "10" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Thr335=)" "" "0000298470" "00014161" "10" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Pro443Ser)" "" "0000298471" "00014161" "10" "1486" "0" "1486" "0" "c.1486C>G" "r.(?)" "p.(Leu496Val)" "" "0000298472" "00014161" "10" "1516" "16" "1516" "16" "c.1516+16C>T" "r.(=)" "p.(=)" "" "0000298473" "00014161" "30" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Arg506Gly)" "" "0000298474" "00014161" "10" "1804" "8" "1804" "8" "c.1804+8C>T" "r.(=)" "p.(=)" "" "0000298475" "00014161" "30" "1943" "-16" "1943" "-16" "c.1943-16C>T" "r.(=)" "p.(=)" "" "0000298476" "00014161" "30" "2070" "0" "2070" "0" "c.2070G>A" "r.(?)" "p.(Thr690=)" "" "0000298477" "00014161" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Asn69=)" "" "0000298478" "00014161" "10" "2101" "0" "2101" "0" "c.2101G>A" "r.(?)" "p.(Ala701Thr)" "" "0000298479" "00014161" "10" "2533" "0" "2533" "0" "c.2533C>T" "r.(?)" "p.(Arg845Cys)" "" "0000298480" "00014161" "30" "2598" "0" "2598" "0" "c.2598C>T" "r.(?)" "p.(Gly866=)" "" "0000298481" "00014161" "10" "2628" "0" "2628" "0" "c.2628C>T" "r.(?)" "p.(Arg876=)" "" "0000298482" "00014161" "10" "2742" "0" "2742" "0" "c.2742C>A" "r.(?)" "p.(Asp914Glu)" "" "0000298483" "00014161" "10" "3027" "0" "3027" "0" "c.3027G>A" "r.(?)" "p.(Glu1009=)" "" "0000298484" "00014161" "10" "3242" "0" "3242" "0" "c.3242A>G" "r.(?)" "p.(His1081Arg)" "" "0000298485" "00014161" "10" "3402" "0" "3402" "0" "c.3402C>T" "r.(?)" "p.(Asn1134=)" "" "0000298486" "00014161" "30" "3639" "0" "3639" "0" "c.3639G>A" "r.(?)" "p.(Val1213=)" "" "0000298487" "00014161" "10" "3652" "11" "3652" "11" "c.3652+11G>A" "r.(=)" "p.(=)" "" "0000298488" "00014161" "30" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Ala128Thr)" "" "0000298489" "00014161" "30" "383" "0" "383" "0" "c.383C>T" "r.(?)" "p.(Ala128Val)" "" "0000298490" "00014161" "30" "3986" "-15" "3986" "-15" "c.3986-15C>A" "r.(=)" "p.(=)" "" "0000298491" "00014161" "10" "411" "0" "411" "0" "c.411C>G" "r.(?)" "p.(Ser137=)" "" "0000298493" "00014161" "10" "4289" "-3" "4289" "-3" "c.4289-3dup" "r.spl?" "p.?" "" "0000298494" "00014161" "30" "4289" "-4" "4289" "-4" "c.4289-4C>G" "r.spl?" "p.?" "" "0000298495" "00014161" "10" "4289" "-9" "4289" "-9" "c.4289-9C>G" "r.(=)" "p.(=)" "" "0000298496" "00014161" "10" "4620" "-12" "4620" "-12" "c.4620-12G>A" "r.(=)" "p.(=)" "" "0000298497" "00014161" "10" "4620" "-18" "4620" "-18" "c.4620-18G>A" "r.(=)" "p.(=)" "" "0000298498" "00014161" "30" "4620" "-4" "4620" "-4" "c.4620-4G>A" "r.spl?" "p.?" "" "0000298499" "00014161" "30" "4620" "-6" "4620" "-6" "c.4620-6C>T" "r.(=)" "p.(=)" "" "0000298500" "00014161" "10" "4764" "0" "4764" "0" "c.4764G>A" "r.(?)" "p.(Pro1588=)" "" "0000298501" "00014161" "30" "5067" "0" "5067" "0" "c.5067C>T" "r.(?)" "p.(Ser1689=)" "" "0000298502" "00014161" "10" "5079" "0" "5079" "0" "c.5079G>A" "r.(?)" "p.(Lys1693=)" "" "0000298503" "00014161" "30" "5114" "8" "5114" "8" "c.5114+8G>A" "r.(=)" "p.(=)" "" "0000298504" "00014161" "30" "5114" "8" "5114" "8" "c.5114+8G>T" "r.(=)" "p.(=)" "" "0000298505" "00014161" "30" "5340" "0" "5340" "0" "c.5340G>A" "r.(?)" "p.(Pro1780=)" "" "0000298506" "00014161" "10" "5368" "13" "5368" "21" "c.5368+13_5368+21del" "r.(=)" "p.(=)" "" "0000298507" "00014161" "30" "5448" "0" "5448" "0" "c.5448C>T" "r.(?)" "p.(Arg1816=)" "" "0000298508" "00014161" "30" "5501" "-20" "5501" "-20" "c.5501-20G>A" "r.(=)" "p.(=)" "" "0000298509" "00014161" "30" "588" "13" "588" "16" "c.588+13_588+16del" "r.(=)" "p.(=)" "" "0000298510" "00014161" "30" "609" "0" "609" "0" "c.609G>C" "r.(?)" "p.(Pro203=)" "" "0000298511" "00014161" "10" "62" "0" "62" "0" "c.62C>A" "r.(?)" "p.(Pro21His)" "" "0000298512" "00014161" "30" "754" "16" "754" "16" "c.754+16C>T" "r.(=)" "p.(=)" "" "0000298513" "00014161" "30" "755" "-12" "755" "-12" "c.755-12C>T" "r.(=)" "p.(=)" "" "0000298514" "00014161" "30" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(Pro333=)" "" "0000299763" "00014161" "30" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Arg378His)" "" "0000299764" "00014161" "10" "1309" "26" "1309" "26" "c.1309+26G>A" "r.(=)" "p.(=)" "" "0000299765" "00014161" "10" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Pro443Ser)" "" "0000299766" "00014161" "10" "1651" "23" "1651" "23" "c.1651+23C>G" "r.(=)" "p.(=)" "" "0000299767" "00014161" "50" "1865" "0" "1865" "0" "c.1865C>G" "r.(?)" "p.(Ala622Gly)" "" "0000299768" "00014161" "10" "2533" "0" "2533" "0" "c.2533C>T" "r.(?)" "p.(Arg845Cys)" "" "0000299769" "00014161" "50" "2629" "0" "2629" "0" "c.2629G>A" "r.(?)" "p.(Val877Met)" "" "0000299770" "00014161" "50" "2820" "0" "2820" "0" "c.2820G>T" "r.(?)" "p.(Glu940Asp)" "" "0000299771" "00014161" "30" "2898" "0" "2898" "0" "c.2898C>T" "r.(?)" "p.(Pro966=)" "" "0000299772" "00014161" "50" "304" "0" "304" "0" "c.304G>C" "r.(?)" "p.(Gly102Arg)" "" "0000299773" "00014161" "30" "3449" "-3" "3449" "-3" "c.3449-3C>T" "r.spl?" "p.?" "" "0000299774" "00014161" "50" "3526" "0" "3526" "0" "c.3526G>A" "r.(?)" "p.(Ala1176Thr)" "" "0000299775" "00014161" "10" "3652" "11" "3652" "11" "c.3652+11G>A" "r.(=)" "p.(=)" "" "0000299776" "00014161" "30" "3703" "12" "3703" "12" "c.3703+12C>T" "r.(=)" "p.(=)" "" "0000299777" "00014161" "30" "3832" "-6" "3832" "-6" "c.3832-6C>T" "r.(=)" "p.(=)" "" "0000299778" "00014161" "30" "3898" "0" "3898" "0" "c.3898G>A" "r.(?)" "p.(Ala1300Thr)" "" "0000299779" "00014161" "30" "4289" "-3" "4289" "-3" "c.4289-3dup" "r.spl?" "p.?" "" "0000299780" "00014161" "10" "4620" "-12" "4620" "-12" "c.4620-12G>A" "r.(=)" "p.(=)" "" "0000299781" "00014161" "10" "4620" "-6" "4620" "-6" "c.4620-6C>T" "r.(=)" "p.(=)" "" "0000299782" "00014161" "10" "4764" "0" "4764" "0" "c.4764G>A" "r.(?)" "p.(Pro1588=)" "" "0000299783" "00014161" "30" "5114" "8" "5114" "8" "c.5114+8G>A" "r.(=)" "p.(=)" "" "0000299784" "00014161" "50" "5480" "0" "5480" "0" "c.5480G>C" "r.(?)" "p.(Arg1827Thr)" "" "0000299785" "00014161" "10" "588" "13" "588" "16" "c.588+13_588+16del" "r.(=)" "p.(=)" "" "0000299786" "00014161" "10" "755" "-12" "755" "-12" "c.755-12C>T" "r.(=)" "p.(=)" "" "0000299787" "00014161" "30" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(Pro333=)" "" "0000302552" "00014161" "10" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Thr335=)" "" "0000302553" "00014161" "30" "1011" "0" "1011" "0" "c.1011C>G" "r.(?)" "p.(Val337=)" "" "0000302554" "00014161" "30" "1132" "0" "1132" "0" "c.1132C>G" "r.(?)" "p.(Arg378Gly)" "" "0000302555" "00014161" "30" "1133" "0" "1133" "0" "c.1133G>A" "r.(?)" "p.(Arg378His)" "" "0000302556" "00014161" "50" "1296" "0" "1296" "0" "c.1296G>C" "r.(?)" "p.(Lys432Asn)" "" "0000302557" "00014161" "10" "1309" "26" "1309" "26" "c.1309+26G>A" "r.(=)" "p.(=)" "" "0000302558" "00014161" "30" "1314" "0" "1314" "0" "c.1314C>T" "r.(?)" "p.(Ser438=)" "" "0000302559" "00014161" "10" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Pro443Ser)" "" "0000302560" "00014161" "10" "1516" "16" "1516" "16" "c.1516+16C>T" "r.(=)" "p.(=)" "" "0000302561" "00014161" "10" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Arg506Gly)" "" "0000302562" "00014161" "30" "1517" "-3" "1517" "-3" "c.1517-3C>T" "r.spl?" "p.?" "" "0000302563" "00014161" "30" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Val537Ile)" "" "0000302564" "00014161" "10" "1651" "23" "1651" "23" "c.1651+23C>G" "r.(=)" "p.(=)" "" "0000302565" "00014161" "10" "1651" "30" "1651" "30" "c.1651+30C>T" "r.(=)" "p.(=)" "" "0000302566" "00014161" "10" "1652" "-111" "1652" "-111" "c.1652-111del" "r.(=)" "p.(=)" "" "0000302567" "00014161" "10" "1652" "-52" "1652" "-52" "c.1652-52G>A" "r.(=)" "p.(=)" "" "0000302569" "00014161" "30" "1725" "0" "1725" "0" "c.1725G>A" "r.(?)" "p.(Pro575=)" "" "0000302574" "00014161" "10" "1942" "22" "1942" "23" "c.1942+22_1942+23del" "r.(=)" "p.(=)" "" "0000302575" "00014161" "50" "1991" "0" "1991" "0" "c.1991A>G" "r.(?)" "p.(Gln664Arg)" "" "0000302576" "00014161" "10" "2101" "0" "2101" "0" "c.2101G>A" "r.(?)" "p.(Ala701Thr)" "" "0000302578" "00014161" "50" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821Trp)" "" "0000302579" "00014161" "10" "2533" "0" "2533" "0" "c.2533C>T" "r.(?)" "p.(Arg845Cys)" "" "0000302580" "00014161" "50" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Trp)" "" "0000302581" "00014161" "30" "2581" "0" "2581" "0" "c.2581C>A" "r.(?)" "p.(Leu861Ile)" "" "0000302583" "00014161" "10" "2742" "0" "2742" "0" "c.2742C>A" "r.(?)" "p.(Asp914Glu)" "" "0000302584" "00014161" "10" "3027" "0" "3027" "0" "c.3027G>A" "r.(?)" "p.(Glu1009=)" "" "0000302585" "00014161" "30" "3184" "0" "3184" "0" "c.3184G>T" "r.(?)" "p.(Ala1062Ser)" "" "0000302586" "00014161" "10" "3196" "0" "3198" "0" "c.3196_3198del" "r.(?)" "p.(Glu1066del)" "" "0000302588" "00014161" "30" "3246" "0" "3246" "0" "c.3246A>G" "r.(?)" "p.(Ala1082=)" "" "0000302590" "00014161" "30" "3302" "0" "3302" "0" "c.3302A>G" "r.(?)" "p.(Lys1101Arg)" "" "0000302592" "00014161" "50" "3403" "0" "3403" "0" "c.3403G>A" "r.(?)" "p.(Gly1135Arg)" "" "0000302594" "00014161" "50" "344" "0" "344" "0" "c.344G>A" "r.(?)" "p.(Arg115His)" "" "0000302595" "00014161" "50" "3583" "0" "3583" "0" "c.3583A>G" "r.(?)" "p.(Asn1195Asp)" "" "0000302596" "00014161" "50" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "" "0000302597" "00014161" "30" "3637" "0" "3637" "0" "c.3637G>C" "r.(?)" "p.(Val1213Leu)" "" "0000302598" "00014161" "10" "3652" "11" "3652" "11" "c.3652+11G>A" "r.(=)" "p.(=)" "" "0000302599" "00014161" "30" "3653" "0" "3653" "0" "c.3653G>A" "r.(?)" "p.(Ser1218Asn)" "" "0000302600" "00014161" "10" "3704" "-24" "3704" "-24" "c.3704-24C>T" "r.(=)" "p.(=)" "" "0000302601" "00014161" "30" "3832" "-6" "3832" "-6" "c.3832-6C>T" "r.(=)" "p.(=)" "" "0000302602" "00014161" "50" "3942" "0" "3942" "0" "c.3942C>A" "r.(?)" "p.(Asn1314Lys)" "" "0000302603" "00014161" "50" "4031" "0" "4031" "0" "c.4031G>A" "r.(?)" "p.(Arg1344Gln)" "" "0000302604" "00014161" "10" "411" "0" "411" "0" "c.411C>G" "r.(?)" "p.(Ser137=)" "" "0000302605" "00014161" "30" "4179" "0" "4179" "0" "c.4179C>T" "r.(?)" "p.(Asp1393=)" "" "0000302608" "00014161" "50" "4289" "-5" "4289" "-5" "c.4289-5C>A" "r.spl?" "p.?" "" "0000302609" "00014161" "10" "4321" "21" "4321" "21" "c.4321+21C>A" "r.(=)" "p.(=)" "" "0000302610" "00014161" "50" "4336" "0" "4336" "0" "c.4336G>A" "r.(?)" "p.(Glu1446Lys)" "" "0000302611" "00014161" "10" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Pro147Ser)" "" "0000302612" "00014161" "30" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Ala148Val)" "" "0000302613" "00014161" "50" "4546" "0" "4546" "0" "c.4546C>T" "r.(?)" "p.(Leu1516Phe)" "" "0000302614" "00014161" "10" "4620" "-12" "4620" "-12" "c.4620-12G>A" "r.(=)" "p.(=)" "" "0000302615" "00014161" "10" "4620" "-18" "4620" "-18" "c.4620-18G>A" "r.(=)" "p.(=)" "" "0000302616" "00014161" "30" "4620" "-6" "4620" "-6" "c.4620-6C>T" "r.(=)" "p.(=)" "" "0000302617" "00014161" "50" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Ile155Val)" "" "0000302618" "00014161" "30" "4764" "0" "4764" "0" "c.4764G>A" "r.(?)" "p.(Pro1588=)" "" "0000302619" "00014161" "30" "4785" "0" "4785" "0" "c.4785C>T" "r.(?)" "p.(Asn1595=)" "" "0000302620" "00014161" "10" "479" "0" "479" "0" "c.479C>G" "r.(?)" "p.(Pro160Arg)" "" "0000302621" "00014161" "10" "4838" "-21" "4838" "-21" "c.4838-21C>G" "r.(=)" "p.(=)" "" "0000302622" "00014161" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169Gln)" "" "0000302623" "00014161" "10" "5079" "0" "5079" "0" "c.5079G>A" "r.(?)" "p.(Lys1693=)" "" "0000302624" "00014161" "30" "5114" "8" "5114" "8" "c.5114+8G>A" "r.(=)" "p.(=)" "" "0000302625" "00014161" "30" "5454" "0" "5454" "0" "c.5454A>G" "r.(?)" "p.(Leu1818=)" "" "0000302626" "00014161" "10" "589" "-30" "589" "-30" "c.589-30A>T" "r.(=)" "p.(=)" "" "0000302627" "00014161" "10" "62" "0" "62" "0" "c.62C>A" "r.(?)" "p.(Pro21His)" "" "0000302628" "00014161" "10" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Leu218=)" "" "0000302629" "00014161" "30" "682" "0" "682" "0" "c.682G>C" "r.(?)" "p.(Val228Leu)" "" "0000302630" "00014161" "10" "755" "-12" "755" "-12" "c.755-12C>T" "r.(=)" "p.(=)" "" "0000302631" "00014161" "90" "937" "0" "937" "0" "c.937C>T" "r.(?)" "p.(Gln313Ter)" "" "0000302632" "00014161" "30" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(Pro333=)" "" "0000337071" "00014161" "10" "4842" "0" "4842" "0" "c.4842T>C" "r.(?)" "p.(Asn1614=)" "" "0000337072" "00014161" "10" "4194" "0" "4194" "0" "c.4194C>T" "r.(?)" "p.(His1398=)" "" "0000337073" "00014161" "10" "1804" "8" "1804" "8" "c.1804+8C>T" "r.(=)" "p.(=)" "" "0000337075" "00014161" "10" "-153" "0" "-153" "0" "c.-153C>T" "r.(?)" "p.(=)" "" "0000339341" "00014161" "10" "4764" "0" "4764" "0" "c.4764G>A" "r.(?)" "p.(Pro1588=)" "" "0000339342" "00014161" "10" "4317" "0" "4317" "0" "c.4317T>C" "r.(?)" "p.(Asp1439=)" "" "0000339343" "00014161" "10" "3558" "0" "3558" "0" "c.3558C>T" "r.(?)" "p.(Thr1186=)" "" "0000339344" "00014161" "10" "1005" "0" "1005" "0" "c.1005C>T" "r.(?)" "p.(Thr335=)" "" "0000343128" "00014161" "50" "169" "0" "169" "0" "c.169C>T" "r.(?)" "p.(Arg57Trp)" "" "0000347196" "00014161" "10" "1486" "0" "1486" "0" "c.1486C>G" "r.(?)" "p.(Leu496Val)" "" "0000350432" "00014161" "10" "782" "0" "782" "0" "c.782T>C" "r.(?)" "p.(Val261Ala)" "" "0000368468" "00014161" "70" "4962" "-1" "4962" "-1" "c.4962-1G>T" "r.spl?" "p.?" "" "0000517557" "00014161" "30" "5477" "0" "5477" "0" "c.5477C>T" "r.(?)" "p.(Ala1826Val)" "" "0000517558" "00014161" "30" "5115" "-6" "5115" "-6" "c.5115-6T>C" "r.(=)" "p.(=)" "" "0000517559" "00014161" "30" "5067" "0" "5067" "0" "c.5067C>T" "r.(?)" "p.(Ser1689=)" "" "0000517560" "00014161" "30" "5001" "0" "5001" "0" "c.5001C>T" "r.(?)" "p.(Asn1667=)" "" "0000517561" "00014161" "50" "4850" "0" "4850" "0" "c.4850C>A" "r.(?)" "p.(Ser1617Tyr)" "" "0000517562" "00014161" "50" "4849" "0" "4849" "0" "c.4849T>C" "r.(?)" "p.(Ser1617Pro)" "" "0000517563" "00014161" "30" "4812" "0" "4812" "0" "c.4812C>T" "r.(?)" "p.(Ile1604=)" "" "0000517564" "00014161" "10" "4620" "-18" "4620" "-18" "c.4620-18G>A" "r.(=)" "p.(=)" "" "0000517565" "00014161" "50" "4565" "0" "4565" "0" "c.4565T>C" "r.(?)" "p.(Val1522Ala)" "" "0000517566" "00014161" "50" "4515" "0" "4515" "0" "c.4515T>G" "r.(?)" "p.(Asn1505Lys)" "" "0000517567" "00014161" "30" "4349" "0" "4349" "0" "c.4349G>A" "r.(?)" "p.(Arg1450Gln)" "" "0000517568" "00014161" "30" "4347" "0" "4347" "0" "c.4347C>T" "r.(?)" "p.(Tyr1449=)" "" "0000517569" "00014161" "30" "4293" "0" "4293" "0" "c.4293G>A" "r.(?)" "p.(Pro1431=)" "" "0000517570" "00014161" "30" "4293" "0" "4293" "0" "c.4293G>A" "r.(?)" "p.(Pro1431=)" "" "0000517571" "00014161" "50" "4289" "-5" "4289" "-4" "c.4289-5_4289-4insA" "r.spl?" "p.?" "" "0000517572" "00014161" "10" "4289" "-9" "4289" "-9" "c.4289-9C>G" "r.(=)" "p.(=)" "" "0000517573" "00014161" "10" "4289" "-3" "4289" "-3" "c.4289-3dup" "r.spl?" "p.?" "" "0000517575" "00014161" "50" "4222" "0" "4222" "0" "c.4222A>G" "r.(?)" "p.(Asn1408Asp)" "" "0000517576" "00014161" "10" "4194" "0" "4194" "0" "c.4194C>T" "r.(?)" "p.(His1398=)" "" "0000517577" "00014161" "10" "4194" "0" "4194" "0" "c.4194C>T" "r.(?)" "p.(His1398=)" "" "0000517578" "00014161" "10" "4194" "0" "4194" "0" "c.4194C>T" "r.(?)" "p.(His1398=)" "" "0000517579" "00014161" "30" "4170" "0" "4170" "0" "c.4170C>T" "r.(?)" "p.(Asn1390=)" "" "0000517580" "00014161" "50" "3997" "0" "3997" "0" "c.3997C>T" "r.(?)" "p.(Pro1333Ser)" "" "0000517581" "00014161" "10" "3987" "0" "3987" "0" "c.3987T>G" "r.(?)" "p.(Asp1329Glu)" "" "0000517582" "00014161" "30" "3832" "-6" "3832" "-6" "c.3832-6C>T" "r.(=)" "p.(=)" "" "0000517583" "00014161" "30" "3832" "-6" "3832" "-6" "c.3832-6C>T" "r.(=)" "p.(=)" "" "0000517584" "00014161" "50" "3824" "0" "3824" "0" "c.3824G>A" "r.(?)" "p.(Arg1275Gln)" "" "0000517586" "00014161" "30" "3696" "0" "3696" "0" "c.3696G>A" "r.(?)" "p.(Pro1232=)" "" "0000517587" "00014161" "30" "3637" "0" "3637" "0" "c.3637G>C" "r.(?)" "p.(Val1213Leu)" "" "0000517588" "00014161" "30" "3637" "0" "3637" "0" "c.3637G>C" "r.(?)" "p.(Val1213Leu)" "" "0000517589" "00014161" "50" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "" "0000517590" "00014161" "30" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "" "0000517591" "00014161" "10" "3558" "0" "3558" "0" "c.3558C>T" "r.(?)" "p.(Thr1186=)" "" "0000517592" "00014161" "10" "3558" "0" "3558" "0" "c.3558C>T" "r.(?)" "p.(Thr1186=)" "" "0000517593" "00014161" "30" "3448" "20" "3448" "20" "c.3448+20G>C" "r.(=)" "p.(=)" "" "0000517597" "00014161" "10" "3253" "0" "3253" "0" "c.3253A>G" "r.(?)" "p.(Thr1085Ala)" "" "0000517598" "00014161" "10" "3253" "0" "3253" "0" "c.3253A>G" "r.(?)" "p.(Thr1085Ala)" "" "0000517599" "00014161" "30" "3242" "0" "3242" "0" "c.3242A>G" "r.(?)" "p.(His1081Arg)" "" "0000517600" "00014161" "10" "3196" "0" "3198" "0" "c.3196_3198del" "r.(?)" "p.(Glu1066del)" "" "0000517601" "00014161" "50" "3121" "0" "3121" "0" "c.3121G>A" "r.(?)" "p.(Ala1041Thr)" "" "0000517602" "00014161" "30" "3032" "0" "3032" "0" "c.3032C>T" "r.(?)" "p.(Ser1011Phe)" "" "0000517603" "00014161" "30" "2919" "0" "2919" "0" "c.2919G>A" "r.(?)" "p.(Pro973=)" "" "0000517604" "00014161" "50" "2776" "0" "2776" "0" "c.2776C>T" "r.(?)" "p.(Arg926Cys)" "" "0000517606" "00014161" "50" "2598" "0" "2598" "0" "c.2598C>T" "r.(?)" "p.(Gly866=)" "" "0000517607" "00014161" "50" "2474" "0" "2474" "0" "c.2474C>T" "r.(?)" "p.(Pro825Leu)" "" "0000517608" "00014161" "30" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821Trp)" "" "0000517609" "00014161" "50" "2458" "0" "2458" "0" "c.2458C>G" "r.(?)" "p.(Pro820Ala)" "" "0000517610" "00014161" "10" "2388" "0" "2388" "0" "c.2388C>T" "r.(?)" "p.(Leu796=)" "" "0000517611" "00014161" "30" "2253" "0" "2253" "0" "c.2253C>T" "r.(?)" "p.(Thr751=)" "" "0000517612" "00014161" "50" "2183" "0" "2183" "0" "c.2183G>A" "r.(?)" "p.(Arg728His)" "" "0000517614" "00014161" "30" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Val709Met)" "" "0000517615" "00014161" "30" "2101" "0" "2101" "0" "c.2101G>A" "r.(?)" "p.(Ala701Thr)" "" "0000517616" "00014161" "30" "2061" "0" "2061" "0" "c.2061G>A" "r.(?)" "p.(Pro687=)" "" "0000517617" "00014161" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Gly675Arg)" "" "0000517618" "00014161" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Gly675Arg)" "" "0000517619" "00014161" "50" "1968" "0" "1968" "0" "c.1968G>T" "r.(?)" "p.(Trp656Cys)" "" "0000517620" "00014161" "30" "1968" "0" "1968" "0" "c.1968G>T" "r.(?)" "p.(Trp656Cys)" "" "0000517621" "00014161" "30" "1968" "0" "1968" "0" "c.1968G>T" "r.(?)" "p.(Trp656Cys)" "" "0000517622" "00014161" "30" "1968" "0" "1968" "0" "c.1968G>T" "r.(?)" "p.(Trp656Cys)" "" "0000517623" "00014161" "50" "1804" "5" "1804" "5" "c.1804+5G>T" "r.spl?" "p.?" "" "0000517624" "00014161" "30" "1798" "0" "1798" "0" "c.1798G>A" "r.(?)" "p.(Val600Ile)" "" "0000517625" "00014161" "50" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Ala596Thr)" "" "0000517627" "00014161" "10" "1310" "-20" "1310" "-20" "c.1310-20T>C" "r.(=)" "p.(=)" "" "0000517628" "00014161" "30" "1310" "-20" "1310" "-20" "c.1310-20T>C" "r.(=)" "p.(=)" "" "0000517629" "00014161" "50" "1057" "0" "1057" "0" "c.1057C>A" "r.(?)" "p.(Gln353Lys)" "" "0000517630" "00014161" "50" "1045" "0" "1045" "0" "c.1045del" "r.(?)" "p.(Ala349ProfsTer47)" "" "0000517631" "00014161" "30" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Pro336Leu)" "" "0000517632" "00014161" "30" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Pro336Leu)" "" "0000517633" "00014161" "30" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Pro336Leu)" "" "0000517634" "00014161" "30" "984" "0" "984" "0" "c.984G>A" "r.(?)" "p.(Ser328=)" "" "0000517635" "00014161" "50" "754" "1" "754" "1" "c.754+1G>A" "r.spl?" "p.?" "" "0000517636" "00014161" "30" "717" "0" "717" "0" "c.717G>A" "r.(?)" "p.(Ser239=)" "" "0000517637" "00014161" "30" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Asn237=)" "" "0000517638" "00014161" "50" "697" "0" "697" "0" "c.697T>G" "r.(?)" "p.(Cys233Gly)" "" "0000517639" "00014161" "30" "684" "0" "684" "0" "c.684G>T" "r.(?)" "p.(Val228=)" "" "0000517640" "00014161" "50" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Val192Ala)" "" "0000517641" "00014161" "50" "493" "0" "493" "0" "c.493del" "r.(?)" "p.(Thr165ProfsTer72)" "" "0000517642" "00014161" "50" "493" "0" "493" "0" "c.493del" "r.(?)" "p.(Thr165ProfsTer72)" "" "0000517643" "00014161" "50" "493" "0" "493" "0" "c.493del" "r.(?)" "p.(Thr165ProfsTer72)" "" "0000517645" "00014161" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "0000517646" "00014161" "10" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Pro147Ser)" "" "0000517647" "00014161" "10" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Pro147Ser)" "" "0000517648" "00014161" "30" "422" "168" "422" "168" "c.422+168G>C" "r.(=)" "p.(=)" "" "0000517649" "00014161" "30" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(Gln133His)" "" "0000517650" "00014161" "30" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(Gln133His)" "" "0000517651" "00014161" "30" "399" "0" "399" "0" "c.399G>T" "r.(?)" "p.(Gln133His)" "" "0000517652" "00014161" "30" "384" "0" "384" "0" "c.384G>A" "r.(?)" "p.(Ala128=)" "" "0000517653" "00014161" "30" "382" "0" "382" "0" "c.382G>A" "r.(?)" "p.(Ala128Thr)" "" "0000517654" "00014161" "10" "373" "18" "373" "18" "c.373+18C>T" "r.(=)" "p.(=)" "" "0000517655" "00014161" "10" "373" "18" "373" "18" "c.373+18C>T" "r.(=)" "p.(=)" "" "0000517656" "00014161" "50" "330" "0" "330" "0" "c.330T>A" "r.(?)" "p.(Asn110Lys)" "" "0000517657" "00014161" "30" "312" "0" "312" "0" "c.312T>C" "r.(?)" "p.(Tyr104=)" "" "0000517658" "00014161" "50" "304" "0" "304" "0" "c.304G>C" "r.(?)" "p.(Gly102Arg)" "" "0000517659" "00014161" "30" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Trp)" "" "0000517660" "00014161" "50" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Trp)" "" "0000517661" "00014161" "30" "174" "0" "174" "0" "c.174T>C" "r.(?)" "p.(Gly58=)" "" "0000608247" "00014161" "50" "5477" "0" "5477" "0" "c.5477C>T" "r.(?)" "p.(Ala1826Val)" "" "0000608248" "00014161" "30" "4995" "0" "4995" "0" "c.4995C>T" "r.(?)" "p.(Asn1665=)" "" "0000608250" "00014161" "50" "4565" "0" "4565" "0" "c.4565T>C" "r.(?)" "p.(Val1522Ala)" "" "0000608251" "00014161" "30" "4020" "0" "4020" "0" "c.4020C>G" "r.(?)" "p.(Ala1340=)" "" "0000608252" "00014161" "30" "3750" "0" "3750" "0" "c.3750C>T" "r.(?)" "p.(Arg1250=)" "" "0000608253" "00014161" "30" "3639" "0" "3639" "0" "c.3639G>A" "r.(?)" "p.(Val1213=)" "" "0000608254" "00014161" "30" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "" "0000608255" "00014161" "50" "2462" "5" "2462" "5" "c.2462+5G>A" "r.spl?" "p.?" "" "0000608256" "00014161" "50" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821Trp)" "" "0000608257" "00014161" "50" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Gly735Asp)" "" "0000608258" "00014161" "50" "1955" "0" "1955" "0" "c.1955C>G" "r.(?)" "p.(Pro652Arg)" "" "0000608259" "00014161" "50" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Ala596Thr)" "" "0000608260" "00014161" "50" "1724" "0" "1724" "0" "c.1724C>T" "r.(?)" "p.(Pro575Leu)" "" "0000608261" "00014161" "30" "1708" "0" "1708" "0" "c.1708A>G" "r.(?)" "p.(Ile570Val)" "" "0000608262" "00014161" "30" "1689" "0" "1689" "0" "c.1689C>T" "r.(?)" "p.(Ala563=)" "" "0000608263" "00014161" "30" "1213" "0" "1213" "0" "c.1213A>G" "r.(?)" "p.(Met405Val)" "" "0000608264" "00014161" "30" "1033" "0" "1033" "0" "c.1033A>G" "r.(?)" "p.(Ile345Val)" "" "0000608265" "00014161" "30" "999" "0" "999" "0" "c.999G>A" "r.(?)" "p.(Pro333=)" "" "0000608266" "00014161" "30" "774" "-15" "774" "-15" "c.774-15C>G" "r.(=)" "p.(=)" "" "0000608267" "00014161" "30" "774" "-18" "774" "-18" "c.774-18A>C" "r.(=)" "p.(=)" "" "0000608268" "00014161" "30" "376" "0" "376" "0" "c.376A>C" "r.(?)" "p.(Ser126Arg)" "" "0000620307" "00014161" "50" "3566" "-4" "3566" "-4" "c.3566-4C>A" "r.spl?" "p.(?)" "" "0000621160" "00014161" "30" "2070" "0" "2070" "0" "c.2070G>A" "r.(?)" "p.(Thr690=)" "" "0000651046" "00014161" "30" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Pro443Ser)" "" "0000653054" "00014161" "50" "2149" "0" "2149" "0" "c.2149G>T" "r.(?)" "p.(Asp717Tyr)" "" "0000654771" "00014161" "50" "5477" "0" "5477" "0" "c.5477C>T" "r.(?)" "p.(Ala1826Val)" "" "0000654772" "00014161" "30" "4700" "0" "4700" "0" "c.4700G>A" "r.(?)" "p.(Arg1567Gln)" "" "0000654773" "00014161" "50" "4625" "0" "4625" "0" "c.4625C>T" "r.(?)" "p.(Ser1542Leu)" "" "0000654774" "00014161" "50" "3916" "0" "3916" "0" "c.3916G>A" "r.(?)" "p.(Gly1306Ser)" "" "0000654775" "00014161" "30" "2919" "0" "2919" "0" "c.2919G>A" "r.(?)" "p.(Pro973=)" "" "0000654776" "00014161" "30" "2140" "222" "2140" "222" "c.2140+222C>T" "r.(=)" "p.(=)" "" "0000654777" "00014161" "30" "1943" "-247" "1943" "-247" "c.1943-247A>G" "r.(=)" "p.(=)" "" "0000654778" "00014161" "50" "424" "0" "424" "0" "c.424G>T" "r.(?)" "p.(Asp142Tyr)" "" "0000654779" "00014161" "10" "422" "14" "422" "14" "c.422+14G>C" "r.(=)" "p.(=)" "" "0000654780" "00014161" "30" "374" "-189" "374" "-189" "c.374-189A>G" "r.(=)" "p.(=)" "" "0000669734" "00014161" "30" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Pro443Ser)" "" "0000676796" "00014161" "30" "3704" "-52" "3704" "-52" "c.3704-52A>G" "r.(=)" "p.(=)" "" "0000676797" "00014161" "30" "2595" "0" "2595" "0" "c.2595C>T" "r.(?)" "p.(Asp865=)" "" "0000676798" "00014161" "30" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558His)" "" "0000676799" "00014161" "30" "588" "17" "588" "17" "c.588+17C>T" "r.(=)" "p.(=)" "" "0000676800" "00014161" "30" "-186" "11" "-186" "11" "c.-186+11C>G" "r.(=)" "p.(=)" "" "0000688904" "00014161" "30" "5500" "369" "5500" "369" "c.5500+369A>C" "r.(=)" "p.(=)" "" "0000688905" "00014161" "30" "5114" "110" "5114" "110" "c.5114+110G>A" "r.(=)" "p.(=)" "" "0000688906" "00014161" "30" "4837" "60" "4837" "60" "c.4837+60C>A" "r.(=)" "p.(=)" "" "0000688907" "00014161" "30" "2919" "0" "2919" "0" "c.2919G>A" "r.(?)" "p.(Pro973=)" "" "0000688908" "00014161" "50" "2598" "0" "2598" "0" "c.2598C>T" "r.(?)" "p.(Gly866=)" "" "0000688909" "00014161" "30" "2462" "202" "2462" "202" "c.2462+202C>A" "r.(=)" "p.(=)" "" "0000688910" "00014161" "30" "2253" "0" "2253" "0" "c.2253C>T" "r.(?)" "p.(Thr751=)" "" "0000688911" "00014161" "30" "1943" "-289" "1943" "-289" "c.1943-289T>C" "r.(=)" "p.(=)" "" "0000704356" "00014161" "50" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Gly47Arg)" "" "0000719150" "00014161" "50" "5578" "0" "5578" "0" "c.5578G>A" "r.(?)" "p.(Asp1860Asn)" "" "0000719151" "00014161" "30" "5368" "56" "5368" "56" "c.5368+56G>A" "r.(=)" "p.(=)" "" "0000719152" "00014161" "30" "4289" "-4" "4289" "-4" "c.4289-4C>G" "r.spl?" "p.?" "" "0000719153" "00014161" "50" "4207" "0" "4207" "0" "c.4207C>T" "r.(?)" "p.(Arg1403Cys)" "" "0000719154" "00014161" "50" "3901" "0" "3901" "0" "c.3901C>T" "r.(?)" "p.(Arg1301Cys)" "" "0000719155" "00014161" "30" "3210" "0" "3210" "0" "c.3210C>T" "r.(?)" "p.(Asp1070=)" "" "0000719156" "00014161" "30" "3112" "0" "3112" "0" "c.3112A>G" "r.(?)" "p.(Met1038Val)" "" "0000719157" "00014161" "30" "2661" "0" "2661" "0" "c.2661C>T" "r.(?)" "p.(Ile887=)" "" "0000719158" "00014161" "50" "2474" "0" "2474" "0" "c.2474C>T" "r.(?)" "p.(Pro825Leu)" "" "0000719159" "00014161" "30" "1335" "0" "1335" "0" "c.1335G>A" "r.(?)" "p.(Val445=)" "" "0000719160" "00014161" "30" "1314" "0" "1314" "0" "c.1314C>T" "r.(?)" "p.(Ser438=)" "" "0000800924" "00014161" "30" "5121" "0" "5121" "0" "c.5121C>T" "r.(?)" "p.(Arg1707=)" "" "0000800925" "00014161" "50" "5119" "0" "5119" "0" "c.5119C>T" "r.(?)" "p.(Arg1707Cys)" "" "0000800926" "00014161" "30" "3222" "0" "3222" "0" "c.3222T>C" "r.(?)" "p.(Asp1074=)" "" "0000800927" "00014161" "30" "2604" "0" "2604" "0" "c.2604C>T" "r.(?)" "p.(Asp868=)" "" "0000800928" "00014161" "50" "2404" "0" "2404" "0" "c.2404G>A" "r.(?)" "p.(Glu802Lys)" "" "0000800929" "00014161" "50" "2183" "0" "2183" "0" "c.2183G>A" "r.(?)" "p.(Arg728His)" "" "0000800930" "00014161" "30" "1968" "0" "1968" "0" "c.1968G>T" "r.(?)" "p.(Trp656Cys)" "" "0000800931" "00014161" "50" "1913" "0" "1913" "0" "c.1913G>A" "r.(?)" "p.(Ser638Asn)" "" "0000800932" "00014161" "30" "1362" "0" "1362" "0" "c.1362G>A" "r.(?)" "p.(Val454=)" "" "0000800933" "00014161" "30" "1310" "-20" "1310" "-20" "c.1310-20T>C" "r.(=)" "p.(=)" "" "0000800934" "00014161" "30" "1007" "0" "1007" "0" "c.1007C>T" "r.(?)" "p.(Pro336Leu)" "" "0000800935" "00014161" "30" "711" "0" "711" "0" "c.711C>T" "r.(?)" "p.(Asn237=)" "" "0000800936" "00014161" "30" "465" "0" "465" "0" "c.465C>A" "r.(?)" "p.(Ile155=)" "" "0000800937" "00014161" "30" "207" "0" "207" "0" "c.207C>T" "r.(?)" "p.(Asn69=)" "" "0000831727" "00014161" "90" "2391" "-1" "3448" "1" "c.(2390+1_2391-1)_(3448+1_3449-1)del" "r.(?)" "p.?" "" "0000831773" "00014161" "50" "575" "0" "575" "0" "c.575T>C" "r.(?)" "p.(Val192Ala)" "" "0000831774" "00014161" "50" "717" "0" "717" "0" "c.717G>A" "r.(?)" "p.(Ser239=)" "" "0000831775" "00014161" "50" "1057" "0" "1057" "0" "c.1057C>A" "r.(?)" "p.(Gln353Lys)" "" "0000831776" "00014161" "50" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821Trp)" "" "0000831777" "00014161" "50" "2461" "0" "2461" "0" "c.2461C>T" "r.(?)" "p.(Arg821Trp)" "" "0000831778" "00014161" "50" "3121" "0" "3121" "0" "c.3121G>A" "r.(?)" "p.(Ala1041Thr)" "" "0000831779" "00014161" "50" "3610" "0" "3610" "0" "c.3610C>T" "r.(?)" "p.(Arg1204Trp)" "" "0000831780" "00014161" "50" "4222" "0" "4222" "0" "c.4222A>G" "r.(?)" "p.(Asn1408Asp)" "" "0000831781" "00014161" "50" "4565" "0" "4565" "0" "c.4565T>C" "r.(?)" "p.(Val1522Ala)" "" "0000831782" "00014161" "50" "4850" "0" "4850" "0" "c.4850C>A" "r.(?)" "p.(Ser1617Tyr)" "" "0000831812" "00014161" "50" "5477" "0" "5477" "0" "c.5477C>T" "r.(?)" "p.(Ala1826Val)" "" "0000832161" "00014161" "70" "2693" "0" "2693" "0" "c.2693G>A" "r.(?)" "p.(Arg898Gln)" "" "0000850103" "00014161" "30" "4941" "0" "4941" "0" "c.4941C>T" "r.(?)" "p.(Ile1647=)" "" "0000850104" "00014161" "30" "3525" "0" "3525" "0" "c.3525C>T" "r.(?)" "p.(Asp1175=)" "" "0000850105" "00014161" "30" "3448" "15" "3448" "15" "c.3448+15G>A" "r.(=)" "p.(=)" "" "0000850106" "00014161" "30" "3438" "0" "3438" "0" "c.3438C>T" "r.(?)" "p.(Leu1146=)" "" "0000850107" "00014161" "30" "3351" "0" "3351" "0" "c.3351C>A" "r.(?)" "p.(Leu1117=)" "" "0000850108" "00014161" "30" "3075" "0" "3075" "0" "c.3075C>T" "r.(?)" "p.(Pro1025=)" "" "0000850109" "00014161" "30" "2589" "0" "2589" "0" "c.2589G>A" "r.(?)" "p.(Glu863=)" "" "0000850110" "00014161" "30" "1516" "0" "1516" "0" "c.1516A>G" "r.(?)" "p.(Arg506Gly)" "" "0000858771" "00014161" "30" "3537" "0" "3537" "0" "c.3537G>A" "r.(?)" "p.(Ala1179=)" "" "0000885510" "00014161" "30" "5676" "0" "5676" "0" "c.5676C>T" "r.(?)" "p.(Thr1892=)" "" "0000885511" "00014161" "50" "5132" "0" "5132" "0" "c.5132C>T" "r.(?)" "p.(Thr1711Met)" "" "0000885512" "00014161" "30" "4929" "0" "4929" "0" "c.4929C>T" "r.(?)" "p.(Asp1643=)" "" "0000885513" "00014161" "30" "4349" "0" "4349" "0" "c.4349G>A" "r.(?)" "p.(Arg1450Gln)" "" "0000885514" "00014161" "30" "4289" "-4" "4289" "-4" "c.4289-4C>A" "r.spl?" "p.?" "" "0000885515" "00014161" "30" "2631" "0" "2631" "0" "c.2631G>A" "r.(?)" "p.(Val877=)" "" "0000885516" "00014161" "10" "2388" "0" "2388" "0" "c.2388C>T" "r.(?)" "p.(Leu796=)" "" "0000885517" "00014161" "30" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Val537Ile)" "" "0000885518" "00014161" "10" "1516" "16" "1516" "16" "c.1516+16C>T" "r.(=)" "p.(=)" "" "0000885519" "00014161" "50" "1244" "0" "1244" "0" "c.1244A>G" "r.(?)" "p.(Lys415Arg)" "" "0000885520" "00014161" "30" "993" "0" "993" "0" "c.993G>A" "r.(?)" "p.(Thr331=)" "" "0000885521" "00014161" "10" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Leu218=)" "" "0000885522" "00014161" "10" "479" "0" "479" "0" "c.479C>G" "r.(?)" "p.(Pro160Arg)" "" "0000885523" "00014161" "50" "463" "0" "463" "0" "c.463A>G" "r.(?)" "p.(Ile155Val)" "" "0000885524" "00014161" "30" "455" "0" "455" "0" "c.455G>A" "r.(?)" "p.(Arg152His)" "" "0000885525" "00014161" "30" "24" "0" "24" "0" "c.24C>G" "r.(?)" "p.(Ala8=)" "" "0000911809" "00014161" "50" "5288" "0" "5288" "0" "c.5288T>C" "r.(?)" "p.(Met1763Thr)" "" "0000911810" "00014161" "30" "5001" "0" "5001" "0" "c.5001C>T" "r.(?)" "p.(Asn1667=)" "" "0000911811" "00014161" "50" "4136" "0" "4136" "0" "c.4136A>C" "r.(?)" "p.(Lys1379Thr)" "" "0000911812" "00014161" "30" "2898" "0" "2898" "0" "c.2898C>T" "r.(?)" "p.(Pro966=)" "" "0000911813" "00014161" "30" "2474" "0" "2474" "0" "c.2474C>T" "r.(?)" "p.(Pro825Leu)" "" "0000911814" "00014161" "50" "2149" "0" "2149" "0" "c.2149G>T" "r.(?)" "p.(Asp717Tyr)" "" "0000911815" "00014161" "30" "2125" "0" "2125" "0" "c.2125G>A" "r.(?)" "p.(Val709Met)" "" "0000917194" "00014161" "50" "1375" "0" "1375" "0" "c.1375G>A" "r.(?)" "p.(Gly459Ser)" "" "0000923814" "00014161" "50" "4082" "0" "4082" "0" "c.4082G>A" "r.(?)" "p.(Ser1361Asn)" "" "0000923815" "00014161" "50" "3596" "0" "3596" "0" "c.3596del" "r.(?)" "p.(Pro1199Glnfs*3)" "" "0000923816" "00014161" "10" "3525" "0" "3525" "0" "c.3525C>T" "r.(?)" "p.(Asp1175=)" "" "0000923817" "00014161" "10" "3448" "15" "3448" "15" "c.3448+15G>A" "r.(=)" "p.(=)" "" "0000923818" "00014161" "30" "3183" "0" "3183" "0" "c.3183C>T" "r.(?)" "p.(Ser1061=)" "" "0000923819" "00014161" "10" "3075" "0" "3075" "0" "c.3075C>T" "r.(?)" "p.(Pro1025=)" "" "0000923820" "00014161" "30" "1805" "-89" "1805" "-89" "c.1805-89A>C" "r.(=)" "p.(=)" "" "0000923821" "00014161" "30" "1651" "215" "1651" "215" "c.1651+215C>T" "r.(=)" "p.(=)" "" "0000928690" "00014161" "30" "5001" "0" "5001" "0" "c.5001C>T" "r.(?)" "p.(Asn1667=)" "" "0000928691" "00014161" "30" "3704" "-156" "3704" "-156" "c.3704-156G>A" "r.(=)" "p.(=)" "" "0000928692" "00014161" "50" "3404" "0" "3404" "0" "c.3404G>T" "r.(?)" "p.(Gly1135Val)" "" "0000928693" "00014161" "30" "754" "17" "754" "17" "c.754+17G>A" "r.(=)" "p.(=)" "" "0000948001" "00014161" "30" "4292" "0" "4292" "0" "c.4292C>T" "r.(?)" "p.(Pro1431Leu)" "" "0000948002" "00014161" "50" "4056" "0" "4056" "0" "c.4056G>T" "r.(?)" "p.(Trp1352Cys)" "" "0000948003" "00014161" "30" "3986" "-147" "3986" "-147" "c.3986-147T>C" "r.(=)" "p.(=)" "" "0000948004" "00014161" "30" "2388" "0" "2388" "0" "c.2388C>T" "r.(?)" "p.(Leu796=)" "" "0000948005" "00014161" "30" "2253" "0" "2253" "0" "c.2253C>T" "r.(?)" "p.(Thr751=)" "" "0000948006" "00014161" "30" "373" "18" "373" "18" "c.373+18C>G" "r.(=)" "p.(=)" "" "0000962440" "00014161" "30" "5369" "-10" "5369" "-10" "c.5369-10T>G" "r.(=)" "p.(=)" "" "0000962441" "00014161" "30" "5115" "-86" "5115" "-86" "c.5115-86G>A" "r.(=)" "p.(=)" "" "0000962442" "00014161" "10" "4961" "119" "4961" "119" "c.4961+119C>A" "r.(=)" "p.(=)" "" "0000962443" "00014161" "30" "4961" "48" "4961" "48" "c.4961+48G>C" "r.(=)" "p.(=)" "" "0000962444" "00014161" "30" "4289" "-4" "4289" "-3" "c.4289-4_4289-3dup" "r.spl?" "p.?" "" "0000962445" "00014161" "30" "4289" "-247" "4289" "-247" "c.4289-247G>A" "r.(=)" "p.(=)" "" "0000962446" "00014161" "30" "3985" "269" "3985" "269" "c.3985+269G>C" "r.(=)" "p.(=)" "" "0000962447" "00014161" "30" "3985" "69" "3985" "69" "c.3985+69C>T" "r.(=)" "p.(=)" "" "0000962448" "00014161" "30" "3566" "-190" "3566" "-190" "c.3566-190C>T" "r.(=)" "p.(=)" "" "0000962449" "00014161" "30" "3183" "0" "3183" "0" "c.3183C>T" "r.(?)" "p.(Ser1061=)" "" "0000962450" "00014161" "30" "2141" "-250" "2141" "-250" "c.2141-250G>A" "r.(=)" "p.(=)" "" "0000962451" "00014161" "30" "1804" "96" "1804" "96" "c.1804+96C>A" "r.(=)" "p.(=)" "" "0000962452" "00014161" "30" "1219" "0" "1219" "0" "c.1219G>T" "r.(?)" "p.(Gly407Cys)" "" "0000962453" "00014161" "30" "681" "0" "681" "0" "c.681C>T" "r.(?)" "p.(=)" "" "0000962454" "00014161" "10" "652" "0" "652" "0" "c.652C>T" "r.(?)" "p.(Leu218=)" "" "0000962455" "00014161" "10" "479" "0" "479" "0" "c.479C>G" "r.(?)" "p.(Pro160Arg)" "" "0000962456" "00014161" "30" "166" "-160" "166" "-160" "c.166-160A>T" "r.(=)" "p.(=)" "" "0000975516" "00014161" "30" "4953" "0" "4953" "0" "c.4953C>T" "r.(?)" "p.(=)" "" "0000975517" "00014161" "50" "4813" "0" "4813" "0" "c.4813G>A" "r.(?)" "p.(Asp1605Asn)" "" "0000975518" "00014161" "30" "4620" "-4" "4620" "-4" "c.4620-4G>A" "r.spl?" "p.?" "" "0000975519" "00014161" "30" "4469" "0" "4469" "0" "c.4469G>T" "r.(?)" "p.(Trp1490Leu)" "" "0000975520" "00014161" "50" "2777" "0" "2777" "0" "c.2777G>A" "r.(?)" "p.(Arg926His)" "" "0000975521" "00014161" "50" "2048" "0" "2048" "0" "c.2048A>C" "r.(?)" "p.(Gln683Pro)" "" "0000975522" "00014161" "50" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Ala596Thr)" "" "0000975523" "00014161" "50" "1271" "0" "1271" "0" "c.1271A>T" "r.(?)" "p.(Glu424Val)" "" "0000975524" "00014161" "30" "774" "-10" "774" "-10" "c.774-10C>T" "r.(=)" "p.(=)" "" "0000975525" "00014161" "30" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Cys)" "" "0000993204" "00014161" "50" "4565" "0" "4565" "0" "c.4565T>C" "r.(?)" "p.(Val1522Ala)" "" "0000993205" "00014161" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "" "0000993206" "00014161" "30" "3987" "0" "3987" "0" "c.3987T>A" "r.(?)" "p.(Asp1329Glu)" "" "0000993207" "00014161" "50" "3899" "0" "3899" "0" "c.3899C>T" "r.(?)" "p.(Ala1300Val)" "" "0000993208" "00014161" "30" "3898" "0" "3898" "0" "c.3898G>A" "r.(?)" "p.(Ala1300Thr)" "" "0000993209" "00014161" "50" "3824" "0" "3824" "0" "c.3824G>A" "r.(?)" "p.(Arg1275Gln)" "" "0000993210" "00014161" "50" "3637" "0" "3637" "0" "c.3637G>C" "r.(?)" "p.(Val1213Leu)" "" "0000993211" "00014161" "50" "2462" "5" "2462" "5" "c.2462+5G>A" "r.spl?" "p.?" "" "0000993212" "00014161" "50" "2149" "0" "2149" "0" "c.2149G>T" "r.(?)" "p.(Asp717Tyr)" "" "0000993213" "00014161" "50" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Asp717Asn)" "" "0000993214" "00014161" "50" "1141" "0" "1141" "0" "c.1141A>G" "r.(?)" "p.(Thr381Ala)" "" "0000993215" "00014161" "30" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Pro376Leu)" "" "0000993216" "00014161" "90" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Gln353*)" "" "0000993217" "00014161" "30" "773" "67" "773" "67" "c.773+67A>T" "r.(=)" "p.(=)" "" "0000993218" "00014161" "50" "304" "0" "304" "0" "c.304G>C" "r.(?)" "p.(Gly102Arg)" "" "0000993219" "00014161" "50" "256" "0" "256" "0" "c.256C>T" "r.(?)" "p.(Arg86Trp)" "" "0001013804" "00014161" "30" "4620" "-4" "4620" "-4" "c.4620-4G>A" "r.spl?" "p.?" "" "0001013805" "00014161" "30" "3565" "8" "3565" "8" "c.3565+8G>A" "r.(=)" "p.(=)" "" "0001013806" "00014161" "50" "3449" "-15" "3449" "-15" "c.3449-15A>G" "r.(=)" "p.(=)" "" "0001013807" "00014161" "30" "774" "-15" "774" "-15" "c.774-15C>G" "r.(=)" "p.(=)" "" "0001024712" "00014161" "30" "4289" "-4" "4289" "-4" "c.4289-4C>G" "r.spl?" "p.?" "" "0001024713" "00014161" "30" "4224" "0" "4224" "0" "c.4224C>T" "r.(?)" "p.(=)" "" "0001024714" "00014161" "50" "4126" "0" "4126" "0" "c.4126A>C" "r.(?)" "p.(Lys1376Gln)" "" "0001024715" "00014161" "30" "260" "0" "260" "0" "c.260G>A" "r.(?)" "p.(Gly87Glu)" "" "0001033611" "00014161" "50" "5740" "0" "5740" "0" "c.5740G>T" "r.(?)" "p.(Glu1914*)" "" "0001033612" "00014161" "50" "5739" "0" "5741" "0" "c.5739_5741del" "r.(?)" "p.(Glu1914*)" "" "0001033613" "00014161" "50" "4607" "0" "4607" "0" "c.4607T>C" "r.(?)" "p.(Met1536Thr)" "" "0001033614" "00014161" "30" "4289" "-4" "4289" "-3" "c.4289-4_4289-3dup" "r.spl?" "p.?" "" "0001033615" "00014161" "50" "3526" "0" "3526" "0" "c.3526G>A" "r.(?)" "p.(Ala1176Thr)" "" "0001033616" "00014161" "50" "3127" "0" "3127" "0" "c.3127C>G" "r.(?)" "p.(Pro1043Ala)" "" "0001033617" "00014161" "50" "2564" "0" "2564" "0" "c.2564C>T" "r.(?)" "p.(Ala855Val)" "" "0001033618" "00014161" "50" "1895" "0" "1895" "0" "c.1895T>C" "r.(?)" "p.(Leu632Pro)" "" "0001033619" "00014161" "50" "119" "0" "119" "0" "c.119G>A" "r.(?)" "p.(Arg40Gln)" "" "0001033620" "00014161" "50" "-3" "0" "-3" "0" "c.-3A>G" "r.(?)" "p.(=)" "" "0001045870" "00014161" "30" "3901" "0" "3901" "0" "c.3901C>T" "r.(?)" "p.(Arg1301Cys)" "" "0001045871" "00014161" "30" "1991" "0" "1991" "0" "c.1991A>G" "r.(?)" "p.(Gln664Arg)" "" "0001045872" "00014161" "50" "1951" "0" "1951" "0" "c.1951C>G" "r.(?)" "p.(Pro651Ala)" "" "0001045873" "00014161" "50" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Gln529*)" "" "0001048777" "00014161" "50" "2820" "0" "2820" "0" "c.2820G>T" "r.(?)" "p.(Glu940Asp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{variantid}}" "0000019746" "0000040191" "0000064909" "0000096564" "0000065289" "0000096964" "0000104196" "0000168852" "0000164856" "0000368468" "0000270935" "0000620307" "0000294357" "0000651046" "0000296365" "0000653054" "0000306046" "0000669734" "0000321473" "0000704356" "0000399366" "0000831727" "0000399373" "0000831812" "0000399412" "0000831773" "0000399413" "0000831774" "0000399414" "0000831775" "0000399415" "0000831776" "0000399416" "0000831777" "0000399417" "0000831778" "0000399418" "0000831779" "0000399419" "0000831780" "0000399420" "0000831781" "0000399421" "0000831782" "0000399580" "0000832161"