### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAT1A) # 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}}" "MAT1A" "methionine adenosyltransferase I, alpha" "10" "q22" "unknown" "NG_008083.1" "UD_132119020818" "" "https://www.LOVD.nl/MAT1A" "" "1" "6903" "4143" "610550" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MAT1A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-07-12 13:14:09" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00011841" "MAT1A" "methionine adenosyltransferase I, alpha" "001" "NM_000429.2" "" "NP_000420.1" "" "" "" "-255" "3149" "1188" "82049434" "82031576" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "01917" "-" "methionine adenosyltransferase deficiency" "AD;AR" "250850" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-07-09 19:46:25" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "03598" "-" "Hypermethioninemia due to adenosine kinase deficiency" "AR" "614300" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "MAT1A" "01917" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00266330" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00290151" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290152" "" "" "" "21" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304267" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00452177" "" "" "" "10" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452178" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452179" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452180" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452181" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00453623" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat39" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00266330" "03598" "00290151" "00198" "00290152" "00198" "00304267" "00198" "00452177" "00198" "00452178" "00198" "00452179" "00198" "00452180" "00198" "00452181" "00198" "00453623" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01917, 02554, 03598 ## Count = 6 "{{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}}" "0000340780" "00198" "00452177" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MATD" "hypermethioninemia" "" "0000340781" "00198" "00452178" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MATD" "hypermethioninemia" "" "0000340782" "00198" "00452179" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MATD" "hypermethioninemia" "" "0000340783" "00198" "00452180" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MATD" "hypermethioninemia" "" "0000340784" "00198" "00452181" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MATD" "hypermethioninemia" "" "0000342280" "02554" "00453623" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "5y" "" "" "" "" "" "" "" "methionine adenosyltransferase I/III deficiency" "inborn error of metabolism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000267453" "00266330" "1" "01741" "01741" "2019-10-23 10:04:06" "" "" "SEQ" "DNA" "" "" "0000291319" "00290151" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291320" "00290152" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305396" "00304267" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000453779" "00452177" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453780" "00452178" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453781" "00452179" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453782" "00452180" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453783" "00452181" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455235" "00453623" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000267453" "MAT1A" "0000453779" "MAT1A" "0000453780" "MAT1A" "0000453781" "MAT1A" "0000453782" "MAT1A" "0000453783" "MAT1A" ## 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 = 36 "{{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}}" "0000248628" "0" "10" "10" "82034842" "82034842" "subst" "0.718801" "02325" "MAT1A_000002" "g.82034842A>G" "" "" "" "MAT1A(NM_000429.3):c.882T>C (p.A294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80275086A>G" "" "benign" "" "0000248629" "0" "10" "10" "82040052" "82040052" "subst" "0.754374" "02325" "MAT1A_000004" "g.82040052A>G" "" "" "" "MAT1A(NM_000429.3):c.426T>C (p.A142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80280296A>G" "" "benign" "" "0000282395" "0" "10" "10" "82033594" "82033594" "subst" "0.505461" "02325" "MAT1A_000001" "g.82033594G>A" "" "" "" "MAT1A(NM_000429.3):c.1131C>T (p.Y377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80273838G>A" "" "benign" "" "0000282396" "0" "10" "10" "82034854" "82034854" "subst" "0.724219" "02325" "MAT1A_000003" "g.82034854T>C" "" "" "" "MAT1A(NM_000429.3):c.870A>G (p.V290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80275098T>C" "" "benign" "" "0000282397" "0" "10" "10" "82045354" "82045354" "subst" "0.138029" "02325" "MAT1A_000005" "g.82045354G>C" "" "" "" "MAT1A(NM_000429.3):c.92-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80285598G>C" "" "benign" "" "0000340624" "0" "10" "10" "82040052" "82040052" "subst" "0.754374" "02327" "MAT1A_000004" "g.82040052A>G" "" "" "" "MAT1A(NM_000429.3):c.426T>C (p.A142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80280296A>G" "" "benign" "" "0000340639" "0" "10" "10" "82034842" "82034842" "subst" "0.718801" "02327" "MAT1A_000002" "g.82034842A>G" "" "" "" "MAT1A(NM_000429.3):c.882T>C (p.A294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80275086A>G" "" "benign" "" "0000341053" "0" "10" "10" "82034854" "82034854" "subst" "0.724219" "02327" "MAT1A_000003" "g.82034854T>C" "" "" "" "MAT1A(NM_000429.3):c.870A>G (p.V290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80275098T>C" "" "benign" "" "0000342467" "0" "50" "10" "82034933" "82034933" "subst" "0" "02327" "MAT1A_000006" "g.82034933C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80275177C>T" "" "VUS" "" "0000541100" "0" "10" "10" "82034262" "82034262" "subst" "0.505145" "02325" "MAT1A_000007" "g.82034262G>A" "" "" "" "MAT1A(NM_000429.3):c.1085+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80274506G>A" "" "benign" "" "0000541101" "0" "30" "10" "82034286" "82034286" "subst" "4.06184E-6" "01943" "MAT1A_000008" "g.82034286C>T" "" "" "" "MAT1A(NM_000429.2):c.1075G>A (p.V359I), MAT1A(NM_000429.3):c.1075G>A (p.V359I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80274530C>T" "" "likely benign" "" "0000541102" "0" "30" "10" "82034329" "82034329" "subst" "0.000158376" "01943" "MAT1A_000009" "g.82034329C>T" "" "" "" "MAT1A(NM_000429.2):c.1032G>A (p.E344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80274573C>T" "" "likely benign" "" "0000541103" "0" "50" "10" "82039991" "82039991" "subst" "8.12275E-6" "02325" "MAT1A_000010" "g.82039991G>A" "" "" "" "MAT1A(NM_000429.3):c.487C>T (p.R163W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80280235G>A" "" "VUS" "" "0000598512" "0" "90" "10" "82034410" "82034410" "del" "0" "01741" "MAT1A_000011" "g.82034410del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80274654del" "" "pathogenic" "" "0000622438" "0" "50" "10" "82034808" "82034808" "subst" "7.69595E-5" "02325" "MAT1A_000012" "g.82034808C>G" "" "" "" "MAT1A(NM_000429.3):c.916G>C (p.V306L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80275052C>G" "" "VUS" "" "0000648008" "1" "70" "10" "82034291" "82034291" "subst" "3.24926E-5" "03575" "MAT1A_000013" "g.82034291G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs118204003}" "Germline" "" "rs118204003" "0" "" "" "g.80274535G>A" "" "likely pathogenic" "" "0000648009" "1" "30" "10" "82049332" "82049332" "subst" "0" "03575" "MAT1A_000014" "g.82049332G>A" "21/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "21 heterozygous; {DB:CLININrs11595587}" "Germline" "" "rs11595587" "0" "" "" "g.80289576G>A" "" "likely benign" "" "0000669084" "3" "30" "10" "82049332" "82049332" "subst" "0" "03575" "MAT1A_000014" "g.82049332G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs11595587}" "Germline" "" "rs11595587" "0" "" "" "g.80289576G>A" "" "likely benign" "" "0000722959" "0" "50" "10" "82034286" "82034286" "subst" "4.06184E-6" "02325" "MAT1A_000008" "g.82034286C>T" "" "" "" "MAT1A(NM_000429.2):c.1075G>A (p.V359I), MAT1A(NM_000429.3):c.1075G>A (p.V359I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722960" "0" "30" "10" "82040049" "82040049" "subst" "0.000158405" "01943" "MAT1A_000015" "g.82040049G>A" "" "" "" "MAT1A(NM_000429.2):c.429C>T (p.T143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722961" "0" "30" "10" "82040554" "82040554" "subst" "2.43726E-5" "01943" "MAT1A_000016" "g.82040554C>T" "" "" "" "MAT1A(NM_000429.2):c.293-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862007" "0" "30" "10" "82036195" "82036195" "subst" "8.53034E-5" "01943" "MAT1A_000017" "g.82036195G>A" "" "" "" "MAT1A(NM_000429.2):c.705C>T (p.Y235=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979184" "0" "50" "10" "82036194" "82036194" "subst" "3.65595E-5" "01804" "MAT1A_000018" "g.82036194G>T" "" "" "" "MAT1A(NM_000429.3):c.706C>A (p.(Leu236Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979185" "0" "50" "10" "82036269" "82036269" "subst" "1.2187E-5" "01804" "MAT1A_000019" "g.82036269C>T" "" "" "" "MAT1A(NM_000429.3):c.631G>A (p.(Glu211Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979186" "0" "50" "10" "82049155" "82049155" "subst" "2.84248E-5" "01804" "MAT1A_000020" "g.82049155A>G" "" "" "" "MAT1A(NM_000429.3):c.25T>C (p.(Cys9Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000988541" "0" "90" "10" "82034933" "82034933" "subst" "0" "00006" "MAT1A_000006" "g.82034933C>T" "10/14 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.80275177C>T" "" "pathogenic" "" "0000988542" "0" "50" "10" "82039945" "82039945" "subst" "0" "00006" "MAT1A_000024" "g.82039945G>A" "1/14 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.80280189G>A" "" "VUS" "" "0000988543" "0" "70" "10" "82036309" "82036329" "dup" "0" "00006" "MAT1A_000023" "g.82036309_82036329dup" "1/14 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.80276553_80276573dup" "" "likely pathogenic" "" "0000988544" "0" "90" "10" "82034948" "82034948" "subst" "0" "00006" "MAT1A_000022" "g.82034948G>A" "1/14 case chromosomes" "{PMID:Wang 2019:31737040}" "" "776G>T (A259V)" "" "Germline" "" "" "0" "" "" "g.80275192G>A" "" "pathogenic" "" "0000988545" "0" "90" "10" "82034934" "82034934" "subst" "0" "00006" "MAT1A_000021" "g.82034934G>A" "1/14 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.80275178G>A" "" "pathogenic" "" "0000998562" "0" "90" "10" "82034291" "82034291" "subst" "3.24926E-5" "01804" "MAT1A_000013" "g.82034291G>A" "" "" "" "MAT1A(NM_000429.2):c.1070C>T (p.(Pro357Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998563" "0" "90" "10" "82034829" "82034829" "subst" "0" "01804" "MAT1A_000025" "g.82034829G>A" "" "" "" "MAT1A(NM_000429.2):c.895C>T (p.(Arg299Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000998564" "0" "30" "10" "82045351" "82045351" "subst" "0" "02325" "MAT1A_000026" "g.82045351C>T" "" "" "" "MAT1A(NM_000429.3):c.92-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007268" "1" "70" "10" "82034933" "82034933" "subst" "0" "00006" "MAT1A_000006" "g.82034933C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.80275177C>T" "" "likely pathogenic" "" "0001038050" "0" "50" "10" "82043722" "82043722" "subst" "6.49936E-5" "01804" "MAT1A_000027" "g.82043722C>T" "" "" "" "MAT1A(NM_000429.3):c.242G>A (p.(Arg81Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053623" "0" "50" "10" "82033560" "82033560" "subst" "0" "01804" "MAT1A_000028" "g.82033560C>A" "" "" "" "MAT1A(NM_000429.3):c.1165G>T (p.(Val389Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 MAT1A ## Count = 36 "{{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}}" "0000248628" "00011841" "10" "882" "0" "882" "0" "c.882T>C" "r.(?)" "p.(Ala294=)" "" "0000248629" "00011841" "10" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(Ala142=)" "" "0000282395" "00011841" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Tyr377=)" "" "0000282396" "00011841" "10" "870" "0" "870" "0" "c.870A>G" "r.(?)" "p.(Val290=)" "" "0000282397" "00011841" "10" "92" "-9" "92" "-9" "c.92-9C>G" "r.(=)" "p.(=)" "" "0000340624" "00011841" "10" "426" "0" "426" "0" "c.426T>C" "r.(?)" "p.(Ala142=)" "" "0000340639" "00011841" "10" "882" "0" "882" "0" "c.882T>C" "r.(?)" "p.(Ala294=)" "" "0000341053" "00011841" "10" "870" "0" "870" "0" "c.870A>G" "r.(?)" "p.(Val290=)" "" "0000342467" "00011841" "50" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "" "0000541100" "00011841" "10" "1085" "14" "1085" "14" "c.1085+14C>T" "r.(=)" "p.(=)" "" "0000541101" "00011841" "30" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Val359Ile)" "" "0000541102" "00011841" "30" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Glu344=)" "" "0000541103" "00011841" "50" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Arg163Trp)" "" "0000598512" "00011841" "90" "952" "0" "952" "0" "c.952del" "r.(?)" "p.(Val318Phefs*49)" "" "0000622438" "00011841" "50" "916" "0" "916" "0" "c.916G>C" "r.(?)" "p.(Val306Leu)" "" "0000648008" "00011841" "70" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Pro357Leu)" "" "0000648009" "00011841" "30" "-153" "0" "-153" "0" "c.-153C>T" "r.(=)" "p.(=)" "" "0000669084" "00011841" "30" "-153" "0" "-153" "0" "c.-153C>T" "r.(=)" "p.(=)" "" "0000722959" "00011841" "50" "1075" "0" "1075" "0" "c.1075G>A" "r.(?)" "p.(Val359Ile)" "" "0000722960" "00011841" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Thr143=)" "" "0000722961" "00011841" "30" "293" "-6" "293" "-6" "c.293-6G>A" "r.(=)" "p.(=)" "" "0000862007" "00011841" "30" "705" "0" "705" "0" "c.705C>T" "r.(?)" "p.(Tyr235=)" "" "0000979184" "00011841" "50" "706" "0" "706" "0" "c.706C>A" "r.(?)" "p.(Leu236Met)" "" "0000979185" "00011841" "50" "631" "0" "631" "0" "c.631G>A" "r.(?)" "p.(Glu211Lys)" "" "0000979186" "00011841" "50" "25" "0" "25" "0" "c.25T>C" "r.(?)" "p.(Cys9Arg)" "" "0000988541" "00011841" "90" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "" "0000988542" "00011841" "50" "533" "0" "533" "0" "c.533C>T" "r.(?)" "p.(Pro178Leu)" "" "0000988543" "00011841" "70" "572" "0" "592" "0" "c.572_592dup" "r.(?)" "p.(Asp191_Pro197dup)" "" "0000988544" "00011841" "90" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000988545" "00011841" "90" "790" "0" "790" "0" "c.790C>T" "r.(?)" "p.(Arg264Cys)" "" "0000998562" "00011841" "90" "1070" "0" "1070" "0" "c.1070C>T" "r.(?)" "p.(Pro357Leu)" "" "0000998563" "00011841" "90" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Cys)" "" "0000998564" "00011841" "30" "92" "-6" "92" "-6" "c.92-6G>A" "r.(=)" "p.(=)" "" "0001007268" "00011841" "70" "791" "0" "791" "0" "c.791G>A" "r.(?)" "p.(Arg264His)" "" "0001038050" "00011841" "50" "242" "0" "242" "0" "c.242G>A" "r.(?)" "p.(Arg81Gln)" "" "0001053623" "00011841" "50" "1165" "0" "1165" "0" "c.1165G>T" "r.(?)" "p.(Val389Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000267453" "0000598512" "0000291319" "0000648008" "0000291320" "0000648009" "0000305396" "0000669084" "0000453779" "0000988541" "0000453780" "0000988542" "0000453781" "0000988543" "0000453782" "0000988544" "0000453783" "0000988545" "0000455235" "0001007268"