### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MARS) # 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}}" "MARS" "methionyl-tRNA synthetase" "12" "q13" "unknown" "NC_000012.11" "UD_132319641643" "" "http://www.LOVD.nl/MARS" "" "1" "6898" "4141" "156560" "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/MARS_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-12-02 10:25:39" "00000" "2025-05-05 21:14:00" ## 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}}" "00011827" "MARS" "methionyl-tRNA synthetase" "001" "NM_004990.3" "" "NP_004981.2" "" "" "" "-138" "2777" "2703" "57881736" "57910438" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{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" "00325" "SPG" "paraplegia, spastic (SPG)" "" "" "" "" "" "00006" "2014-02-15 22:29:17" "00006" "2016-11-28 13:01:43" "01247" "CMT1A" "Charcot-Marie-Tooth disease, type IA (CMT1A)" "AD" "118220" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-30 17:23:15" "03964" "ILLD" "lung and liver disease, interstitial (ILLD, liver failure syndrome, infantile, type 2)" "AR" "615486" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04569" "CMT2U" "Charcot-Marie-Tooth disease, axonal, type 2U (CMT-2U)" "AD" "616280" "" "" "" "00000" "2015-09-23 10:25:23" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MARS" "03964" "MARS" "04569" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00079366" "" "" "" "1" "" "01482" "{PMID:van Meel 2013:24103465}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "" "" "00079367" "" "" "" "1" "" "01482" "{PMID:Hadchouel 2015:25913036}" "2-generation family, 1 affected, unaffected heterozygous carrier parents (father from France, mother Reunion Islands)" "M" "no" "France;Reunion" ">22y" "0" "" "" "" "" "00079368" "" "" "" "3" "" "01482" "{PMID:Gonzalez 2013:23729695}" "3-generation family, affected uncle and nephew, unaffected heterozygous carrier mother" "M" "" "United States" "" "0" "" "" "" "" "00079369" "" "" "" "2" "" "01482" "{PMID:Hyun 2015:24354524}" "3-generation family, affected mother and son" "F;M" "no" "Korea" "" "0" "" "" "" "" "00079370" "" "" "" "2" "" "01482" "" "" "" "" "China" "" "0" "" "" "" "" "00079371" "" "" "" "1" "" "01482" "{PMID:Novarino 2014:24482476}" "2-generation family, 4 affecteds (F, 3M), unaffected heterozygous carrier mother/sibs" "F;M" "no" "" "" "0" "" "" "" "" "00089179" "" "" "" "2" "" "00006" "{PMID:Hadchouel 2015:25913036}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "F" "yes" "Tunisia" "" "0" "" "" "" "" "00089182" "" "" "" "26" "" "01482" "{PMID:Hadchouel 2015:25913036}" "26 patients from the islands of Reunion, Comoros, Madagascar" "" "" "Comoros;Madagascar;Reunion" "" "0" "" "" "" "" "00089188" "" "" "" "1" "" "00006" "{PMID:Gonzalez 2013:23729695}" "" "" "" "United States" "" "0" "" "" "" "" "00153305" "" "" "" "1" "" "02388" "" "" "M" "no" "" "" "0" "" "" "" "" "00409273" "" "" "" "2" "" "00006" "{PMID:Okamoto 2022:34585293}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "no" "Japan" "" "0" "" "" "" "FamPat2/3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00079366" "03964" "00079367" "03964" "00079368" "04569" "00079369" "04569" "00079370" "03964" "00079371" "00325" "00089179" "03964" "00089182" "03964" "00089188" "01247" "00153305" "03964" "00409273" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00325, 01247, 03964, 04569 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000059090" "03964" "00079366" "01482" "Familial, autosomal recessive" "" "Failure to thrive;\r\nInterstitial lung disease;\r\nSteatosis;\r\nFibrosis;\r\nCholestasis;\r\nBridging necrosis;\r\nHemosiderin-laden macrophages in the portal tract;\r\nVomit;\r\nHypothyroidism;\r\nAnemia;\r\nArrest of RBC mature;\r\nThrombocytosis;\r\nAbnormal liver enzymes;\r\nAminoaciduria;\r\nLactic acidosis, intermittent;" "" "" "" "" "" "" "" "" "" "" "" "0000059091" "03964" "00079367" "01482" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000059093" "00325" "00079371" "01482" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000068566" "03964" "00089179" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000068569" "03964" "00089182" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000068574" "03964" "00079370" "01482" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000068576" "04569" "00079369" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000068577" "04569" "00079368" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000125986" "03964" "00153305" "02388" "Familial, autosomal recessive" "" "HP:0006530\r\nHP:0000821\r\nHP:0001903\r\nHP:0002093" "" "" "" "" "" "" "" "" "" "" "" "0000301390" "00198" "00409273" "00006" "Familial, autosomal recessive" "" "see paper; ..., intellectual disability, spastic paraplegia, microcephaly (Pat3)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000079439" "00079366" "1" "01482" "01482" "2016-08-10 08:48:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000079440" "00079367" "1" "01482" "01482" "2016-08-10 09:36:52" "" "" "SEQ-NG" "DNA" "blood" "" "0000079441" "00079368" "1" "01482" "01482" "2016-08-10 10:06:29" "" "" "SEQ-NG" "DNA" "" "" "0000079442" "00079369" "1" "01482" "01482" "2016-08-10 10:13:28" "" "" "SEQ-NG" "DNA" "" "" "0000079443" "00079370" "1" "01482" "01482" "2016-08-10 10:22:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000079444" "00079371" "1" "01482" "01482" "2016-08-10 10:39:05" "" "" "SEQ-NG" "DNA" "" "" "0000089325" "00089179" "1" "00006" "00006" "2016-12-02 10:50:55" "" "" "SEQ" "DNA" "" "" "0000089328" "00089182" "1" "01482" "00006" "2016-12-02 11:01:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000089333" "00089188" "1" "00006" "00006" "2016-12-02 11:49:33" "" "" "SEQ" "DNA" "" "" "0000154168" "00153305" "1" "02388" "02388" "2018-02-12 13:04:45" "" "" "SEQ-NG" "DNA" "" "exome sequencing" "0000410537" "00409273" "1" "00006" "00006" "2022-05-06 11:24:57" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000079439" "MARS" "0000079440" "MARS" "0000079441" "MARS" "0000079442" "MARS" "0000079443" "MARS" "0000079444" "MARS" "0000089325" "MARS" "0000089328" "MARS" "0000089333" "MARS" ## 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 = 89 "{{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}}" "0000128167" "11" "90" "12" "57894120" "57894120" "subst" "3.24857E-5" "01482" "MARS_000003" "g.57894120T>C" "" "{PMID:van Meel 2013:24103465}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57500337T>C" "" "pathogenic" "" "0000128168" "21" "90" "12" "57905819" "57905819" "subst" "6.90333E-5" "01482" "MARS_000004" "g.57905819T>C" "" "{PMID:van Meel 2013:24103465}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57512036T>C" "" "pathogenic" "" "0000128169" "11" "90" "12" "57892346" "57892346" "subst" "8.1213E-6" "01482" "MARS_000005" "g.57892346A>G" "" "{PMID:Hadchouel 2015:25913036}, {OMIM156560:0008}" "" "" "" "Germline" "yes" "rs766466297" "0" "" "" "g.57498563A>G" "" "pathogenic" "" "0000128170" "21" "30" "12" "57894189" "57894189" "subst" "0.000182731" "01482" "MARS_000006" "g.57894189G>A" "" "{PMID:Hadchouel 2015:25913036}, {OMIM156560:0007}" "" "" "" "Germline" "yes" "rs141340466" "0" "" "" "g.57500406G>A" "" "likely benign" "" "0000128171" "21" "70" "12" "57906083" "57906083" "subst" "1.62431E-5" "01482" "MARS_000007" "g.57906083C>T" "" "{PMID:Hadchouel 2015:25913036}, {OMIM156560:0007}" "" "" "" "Germline" "yes" "rs143592405" "0" "" "" "g.57512300C>T" "" "likely pathogenic" "" "0000128173" "21" "70" "12" "57906632" "57906632" "subst" "8.12137E-6" "01482" "MARS_000011" "g.57906632C>T" "" "{PMID:Gonzalez 2013:23729695}, {OMIM156560:0005}" "" "" "variant in affected uncle and unaffcted mother" "Germline" "?" "rs587777718" "0" "" "" "g.57512849C>T" "" "likely pathogenic" "" "0000128174" "21" "70" "12" "57909709" "57909709" "subst" "4.46867E-5" "01482" "MARS_000014" "g.57909709C>A" "" "{PMID:Hyun 2015:24354524}, {OMIM156560:0006}" "" "" "" "Germline" "yes" "rs587777718" "0" "" "" "g.57515926C>A" "" "likely pathogenic" "" "0000128175" "0" "70" "12" "57883697" "57883697" "subst" "0" "01482" "MARS_000009" "g.57883697G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.57489914G>A" "" "likely pathogenic" "" "0000128176" "0" "70" "12" "57909716" "57909716" "subst" "0" "01482" "MARS_000010" "g.57909716T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.57515933T>C" "" "likely pathogenic" "" "0000128177" "0" "70" "12" "57881886" "57881886" "subst" "4.06607E-6" "01482" "MARS_000001" "g.57881886G>A" "" "{PMID:Novarino 2014:24482476}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57488103G>A" "" "likely pathogenic" "" "0000128178" "0" "70" "12" "57908741" "57908741" "subst" "1.62481E-5" "01482" "MARS_000002" "g.57908741C>T" "" "{PMID:Novarino 2014:24482476}" "" "" "" "Germline" "yes" "" "0" "" "" "g.57514958C>T" "" "likely pathogenic" "" "0000147249" "0" "90" "12" "57894120" "57894120" "subst" "3.24857E-5" "00006" "MARS_000003" "g.57894120T>C" "" "{PMID:van Meel 2013:24103465}" "" "" "cDNA expression cloning in HEK293 cells showed normal protein expression levels but reduced enzyme activity (0.18)" "In vitro (cloned)" "" "" "0" "" "" "g.57500337T>C" "" "NA" "" "0000147250" "0" "90" "12" "57905819" "57905819" "subst" "6.90333E-5" "00006" "MARS_000004" "g.57905819T>C" "" "{PMID:van Meel 2013:24103465}" "" "" "cDNA expression cloning in HEK293 cells showed normal protein expression levels but reduced enzyme activity (0.16)" "In vitro (cloned)" "" "" "0" "" "" "g.57512036T>C" "" "NA" "" "0000147256" "3" "70" "12" "57906594" "57906594" "subst" "0" "00006" "MARS_000008" "g.57906594A>T" "" "{PMID:Hadchouel 2015:25913036}, {OMIM156560:0009}" "" "" "" "Germline" "yes" "rs756021768" "0" "" "" "g.57512811A>T" "" "likely pathogenic" "" "0000147258" "3" "30" "12" "57894189" "57894189" "subst" "0.000182731" "01482" "MARS_000006" "g.57894189G>A" "" "{PMID:Hadchouel 2015:25913036}, {OMIM156560:0007}" "" "" "" "Germline" "yes" "rs141340466" "0" "" "" "g.57500406G>A" "" "likely benign" "" "0000147260" "3" "70" "12" "57906083" "57906083" "subst" "1.62431E-5" "01482" "MARS_000007" "g.57906083C>T" "" "{PMID:Hadchouel 2015:25913036}, {OMIM156560:0007}" "" "" "" "Germline" "yes" "rs143592405" "0" "" "" "g.57512300C>T" "" "likely pathogenic" "" "0000147261" "1" "30" "12" "57894189" "57894189" "" "0" "00006" "MARS_000000" "g.[57894189G>A;57906083C>T]" "" "{PMID:Hadchouel 2015:25913036}" "" "" "expression cloning (orthologous yeast MES1 protein) showed strongly reduced growth in medium without methionine" "In vitro (cloned)" "-" "" "0" "" "" "" "" "NA" "" "0000147263" "0" "70" "12" "57906083" "57906083" "subst" "1.62431E-5" "00006" "MARS_000007" "g.57906083C>T" "" "{PMID:Hadchouel 2015:25913036}" "" "" "expression cloning (orthologous yeast MES1 protein) showed reduced growth in medium without methionine" "In vitro (cloned)" "-" "" "0" "" "" "g.57512300C>T" "" "NA" "" "0000147264" "0" "30" "12" "57894189" "57894189" "subst" "0.000182731" "00006" "MARS_000006" "g.57894189G>A" "" "{PMID:Hadchouel 2015:25913036}" "" "" "expression cloning (orthologous yeast MES1 protein) showed normal growth in medium without methionine" "In vitro (cloned)" "-" "" "0" "" "" "g.57500406G>A" "" "NA" "" "0000147266" "0" "70" "12" "57906594" "57906594" "subst" "0" "00006" "MARS_000008" "g.57906594A>T" "" "{PMID:Hadchouel 2015:25913036}" "" "" "expression cloning (orthologous yeast MES1 protein) showed reduced growth in medium without methionine" "In vitro (cloned)" "-" "" "0" "" "" "g.57512811A>T" "" "NA" "" "0000147267" "0" "70" "12" "57892346" "57892346" "subst" "8.1213E-6" "00006" "MARS_000005" "g.57892346A>G" "" "{PMID:Hadchouel 2015:25913036}" "" "" "expression cloning (orthologous yeast MES1 protein) showed reduced growth in medium without methionine" "In vitro (cloned)" "-" "" "0" "" "" "g.57498563A>G" "" "NA" "" "0000147269" "0" "70" "12" "57906632" "57906632" "subst" "8.12137E-6" "00006" "MARS_000011" "g.57906632C>T" "" "{PMID:Gonzalez 2013:23729695}" "" "" "expression cloning (orthologous yeast MES1 protein) unable to rescue growth defect MES1 null allele" "In vitro (cloned)" "-" "" "0" "" "" "g.57512849C>T" "" "NA" "" "0000147270" "0" "50" "12" "57905560" "57905560" "subst" "4.06105E-5" "00006" "MARS_000012" "g.57905560G>A" "" "{PMID:Gonzalez 2013:23729695}" "" "" "CMT-1A phenotype caused byd PMP22 gene duplication" "Germline" "" "" "0" "" "" "g.57511777G>A" "" "VUS" "" "0000147271" "0" "30" "12" "57908817" "57908817" "subst" "0.00489734" "00006" "MARS_000013" "g.57908817G>A" "" "{PMID:Gonzalez 2013:23729695}" "" "" "expression cloning (orthologous yeast MES1 protein) able to rescue growth defect MES1 null allele" "In vitro (cloned)" "-" "rs113808165" "0" "" "" "g.57515034G>A" "" "NA" "" "0000247155" "0" "10" "12" "57906143" "57906143" "subst" "0.00433809" "02330" "MARS_000018" "g.57906143A>G" "" "" "" "MARS1(NM_004990.4):c.1753+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57512360A>G" "" "benign" "" "0000247171" "0" "30" "12" "57883768" "57883768" "subst" "0.000609196" "02330" "MARS_000017" "g.57883768A>G" "" "" "" "MARS1(NM_004990.4):c.490+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57489985A>G" "" "likely benign" "" "0000279606" "0" "10" "12" "57908817" "57908817" "subst" "0.00489734" "02330" "MARS_000013" "g.57908817G>A" "" "" "" "MARS1(NM_004990.4):c.2180G>A (p.R727Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57515034G>A" "" "benign" "" "0000279607" "0" "10" "12" "57908852" "57908852" "subst" "0.00233971" "02330" "MARS_000019" "g.57908852G>A" "" "" "" "MARS1(NM_004990.4):c.2204+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57515069G>A" "" "benign" "" "0000279608" "0" "10" "12" "57883193" "57883193" "subst" "0.00277776" "02330" "MARS_000015" "g.57883193C>T" "" "" "" "MARS1(NM_004990.4):c.280-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.57489410C>T" "" "benign" "" "0000353646" "21" "70" "12" "57892235" "57892235" "subst" "8.12176E-6" "02388" "MARS_000016" "g.57892235A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.57498452A>G" "" "likely pathogenic" "" "0000353647" "11" "90" "12" "57906632" "57906632" "subst" "8.12137E-6" "02388" "MARS_000011" "g.57906632C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.57512849C>T" "" "pathogenic" "" "0000548769" "0" "50" "12" "57881916" "57881916" "subst" "0" "02330" "ARHGAP9_000002" "g.57881916G>C" "" "" "" "MARS1(NM_004990.4):c.43G>C (p.V15L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57488133G>C" "" "VUS" "" "0000548770" "0" "30" "12" "57884116" "57884116" "subst" "0.000731178" "02330" "ARHGAP9_000003" "g.57884116C>T" "" "" "" "MARS(NM_004990.3):c.617C>T (p.P206L), MARS1(NM_004990.4):c.617C>T (p.P206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490333C>T" "" "likely benign" "" "0000548771" "0" "30" "12" "57884116" "57884116" "subst" "0.000731178" "01943" "ARHGAP9_000003" "g.57884116C>T" "" "" "" "MARS(NM_004990.3):c.617C>T (p.P206L), MARS1(NM_004990.4):c.617C>T (p.P206L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490333C>T" "" "likely benign" "" "0000548772" "0" "30" "12" "57884125" "57884125" "subst" "0.000849228" "02330" "ARHGAP9_000004" "g.57884125G>A" "" "" "" "MARS(NM_004990.4):c.626G>A (p.(Ser209Asn)), MARS1(NM_004990.4):c.626G>A (p.S209N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490342G>A" "" "likely benign" "" "0000548773" "0" "30" "12" "57884337" "57884337" "subst" "0.00041824" "02330" "ARHGAP9_000005" "g.57884337C>T" "" "" "" "MARS(NM_004990.4):c.680C>T (p.(Thr227Ile)), MARS1(NM_004990.4):c.680C>T (p.T227I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490554C>T" "" "likely benign" "" "0000548774" "0" "10" "12" "57892042" "57892042" "subst" "0.00129539" "02330" "DDIT3_000001" "g.57892042C>T" "" "" "" "MARS1(NM_004990.4):c.873C>T (p.A291=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57498259C>T" "" "benign" "" "0000548775" "0" "50" "12" "57892301" "57892301" "subst" "7.71523E-5" "02330" "DDIT3_000002" "g.57892301C>A" "" "" "" "MARS1(NM_004990.4):c.986C>A (p.P329H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57498518C>A" "" "VUS" "" "0000548776" "0" "70" "12" "57892370" "57892370" "subst" "0" "01804" "DDIT3_000003" "g.57892370A>G" "" "" "" "MARS(NM_004990.3):c.1055A>G (p.(Asp352Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57498587A>G" "" "likely pathogenic" "" "0000548777" "0" "50" "12" "57905478" "57905478" "subst" "0" "02330" "DDIT3_000004" "g.57905478C>G" "" "" "" "MARS1(NM_004990.4):c.1369-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57511695C>G" "" "VUS" "" "0000548778" "0" "10" "12" "57906072" "57906072" "subst" "0.00176241" "02330" "DDIT3_000005" "g.57906072C>T" "" "" "" "MARS1(NM_004990.4):c.1689C>T (p.V563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57512289C>T" "" "benign" "" "0000548779" "0" "50" "12" "57908588" "57908588" "subst" "1.21836E-5" "02330" "DDIT3_000006" "g.57908588G>A" "" "" "" "MARS1(NM_004990.4):c.2053G>A (p.V685I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57514805G>A" "" "VUS" "" "0000548780" "0" "30" "12" "57909005" "57909005" "subst" "4.87349E-5" "02330" "DDIT3_000007" "g.57909005C>T" "" "" "" "MARS1(NM_004990.4):c.2277C>T (p.Y759=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57515222C>T" "" "likely benign" "" "0000548781" "0" "50" "12" "57909014" "57909014" "subst" "0" "02330" "DDIT3_000008" "g.57909014G>A" "" "" "" "MARS1(NM_004990.4):c.2286G>A (p.T762=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57515231G>A" "" "VUS" "" "0000548782" "0" "10" "12" "57910096" "57910096" "subst" "0.00251779" "02330" "DDIT3_000009" "g.57910096G>A" "" "" "" "MARS1(NM_004990.4):c.2532G>A (p.A844=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57516313G>A" "" "benign" "" "0000614317" "0" "30" "12" "57882792" "57882792" "subst" "0.000113234" "02330" "ARHGAP9_000008" "g.57882792C>T" "" "" "" "MARS1(NM_004990.4):c.110-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57489009C>T" "" "likely benign" "" "0000614318" "0" "50" "12" "57898030" "57898030" "subst" "1.21834E-5" "02327" "DDIT3_000010" "g.57898030G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57504247G>A" "" "VUS" "" "0000614319" "0" "50" "12" "57905559" "57905559" "subst" "0.000178689" "02325" "DDIT3_000011" "g.57905559C>T" "" "" "" "MARS1(NM_004990.4):c.1447C>T (p.R483C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57511776C>T" "" "VUS" "" "0000622944" "0" "30" "12" "57881856" "57881856" "subst" "0.000302374" "02330" "ARHGAP9_000006" "g.57881856C>T" "" "" "" "MARS1(NM_004990.4):c.-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57488073C>T" "" "likely benign" "" "0000622945" "0" "30" "12" "57881951" "57881951" "subst" "4.06947E-6" "01943" "ARHGAP9_000007" "g.57881951A>G" "" "" "" "MARS(NM_004990.3):c.78A>G (p.A26=), MARS1(NM_004990.4):c.78A>G (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57488168A>G" "" "likely benign" "" "0000622946" "0" "30" "12" "57883193" "57883193" "subst" "0.00277776" "02326" "MARS_000015" "g.57883193C>T" "" "" "" "MARS1(NM_004990.4):c.280-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57489410C>T" "" "likely benign" "" "0000622947" "0" "30" "12" "57884129" "57884129" "subst" "8.94098E-5" "02330" "ARHGAP9_000009" "g.57884129C>T" "" "" "" "MARS1(NM_004990.4):c.630C>T (p.P210=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57490346C>T" "" "likely benign" "" "0000657163" "0" "50" "12" "57892217" "57892217" "subst" "0" "02330" "DDIT3_000012" "g.57892217G>A" "" "" "" "MARS1(NM_004990.4):c.902G>A (p.R301H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.57498434G>A" "" "VUS" "" "0000679607" "0" "10" "12" "57891961" "57891961" "subst" "0.000592874" "02330" "DDIT3_000013" "g.57891961G>A" "" "" "" "MARS1(NM_004990.4):c.792G>A (p.R264=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691397" "0" "50" "12" "57906653" "57906653" "subst" "2.03034E-5" "02325" "DDIT3_000014" "g.57906653C>T" "" "" "" "MARS(NM_004990.3):c.1873C>T (p.R625W), MARS1(NM_004990.4):c.1873C>T (p.R625W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724159" "0" "30" "12" "57908852" "57908852" "subst" "0.00233971" "02326" "MARS_000019" "g.57908852G>A" "" "" "" "MARS1(NM_004990.4):c.2204+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724160" "0" "50" "12" "57910029" "57910029" "subst" "0" "02330" "DDIT3_000015" "g.57910029C>T" "" "" "" "MARS1(NM_004990.4):c.2465C>T (p.A822V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805869" "0" "50" "12" "57883112" "57883112" "subst" "0" "02325" "ARHGAP9_000010" "g.57883112A>T" "" "" "" "MARS1(NM_004990.4):c.263A>T (p.E88V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805870" "0" "10" "12" "57884173" "57884173" "subst" "0.000713424" "02330" "ARHGAP9_000011" "g.57884173G>A" "" "" "" "MARS1(NM_004990.4):c.663+11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805871" "0" "70" "12" "57892407" "57892407" "subst" "0" "02330" "DDIT3_000016" "g.57892407G>A" "" "" "" "MARS1(NM_004990.4):c.1091+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805872" "0" "50" "12" "57906653" "57906653" "subst" "2.03034E-5" "01943" "DDIT3_000014" "g.57906653C>T" "" "" "" "MARS(NM_004990.3):c.1873C>T (p.R625W), MARS1(NM_004990.4):c.1873C>T (p.R625W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805873" "0" "50" "12" "57908628" "57908628" "subst" "0" "02325" "DDIT3_000017" "g.57908628A>T" "" "" "" "MARS1(NM_004990.4):c.2093A>T (p.K698M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805874" "0" "50" "12" "57908775" "57908775" "subst" "0.000121821" "02330" "DDIT3_000018" "g.57908775G>A" "" "" "" "MARS1(NM_004990.4):c.2138G>A (p.R713Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805875" "0" "30" "12" "57908984" "57908984" "subst" "4.87337E-5" "02330" "DDIT3_000019" "g.57908984C>G" "" "" "" "MARS1(NM_004990.4):c.2256C>G (p.L752=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805876" "0" "50" "12" "57909122" "57909122" "subst" "0" "01943" "DDIT3_000020" "g.57909122A>G" "" "" "" "MARS(NM_004990.3):c.2391+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000847867" "1" "90" "12" "57894178" "57894178" "subst" "0" "00006" "MARS_000020" "g.57894178G>A" "" "{PMID:Okamoto 2022:34585293}" "" "" "ACMG PM2, PP1, PP3, PP4" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000847868" "2" "90" "12" "57906653" "57906653" "subst" "2.03034E-5" "00006" "DDIT3_000014" "g.57906653C>T" "" "{PMID:Okamoto 2022:34585293}" "" "" "ACMG PM2, PP1, PP3, PP4" "Germline" "yes" "rs754546247" "0" "" "" "" "" "VUS" "ACMG" "0000853470" "0" "30" "12" "57910204" "57910204" "subst" "8.13696E-6" "02330" "DDIT3_000021" "g.57910204C>T" "" "" "" "MARS1(NM_004990.4):c.2557-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863080" "0" "30" "12" "57908817" "57908817" "subst" "0.00489734" "02326" "MARS_000013" "g.57908817G>A" "" "" "" "MARS1(NM_004990.4):c.2180G>A (p.R727Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890702" "0" "30" "12" "57881951" "57881951" "subst" "4.06947E-6" "02330" "ARHGAP9_000007" "g.57881951A>G" "" "" "" "MARS(NM_004990.3):c.78A>G (p.A26=), MARS1(NM_004990.4):c.78A>G (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890703" "0" "30" "12" "57883674" "57883674" "del" "6.09102E-5" "02325" "ARHGAP9_000012" "g.57883674del" "" "" "" "MARS1(NM_004990.4):c.415-5delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890704" "0" "50" "12" "57892011" "57892011" "subst" "0" "02330" "DDIT3_000022" "g.57892011T>G" "" "" "" "MARS1(NM_004990.4):c.842T>G (p.L281R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890705" "0" "30" "12" "57906072" "57906072" "subst" "0.00176241" "02326" "DDIT3_000005" "g.57906072C>T" "" "" "" "MARS1(NM_004990.4):c.1689C>T (p.V563=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890706" "0" "50" "12" "57906653" "57906653" "subst" "2.03034E-5" "02329" "DDIT3_000014" "g.57906653C>T" "" "" "" "MARS(NM_004990.3):c.1873C>T (p.R625W), MARS1(NM_004990.4):c.1873C>T (p.R625W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890707" "0" "50" "12" "57908751" "57908751" "dup" "0" "02329" "DDIT3_000023" "g.57908751dup" "" "" "" "MARS1(NM_004990.4):c.2114dupT (p.L705Ffs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000890708" "0" "30" "12" "57908753" "57908753" "subst" "0.000341167" "02330" "DDIT3_000024" "g.57908753C>T" "" "" "" "MARS1(NM_004990.4):c.2116C>T (p.R706C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913916" "0" "50" "12" "57884356" "57884356" "subst" "0.000117756" "02330" "ARHGAP9_000013" "g.57884356T>G" "" "" "" "MARS1(NM_004990.4):c.699T>G (p.I233M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913917" "0" "70" "12" "57892370" "57892370" "subst" "0" "02327" "DDIT3_000003" "g.57892370A>G" "" "" "" "MARS(NM_004990.3):c.1055A>G (p.(Asp352Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925669" "0" "30" "12" "57894221" "57894221" "subst" "4.8729E-5" "02330" "DDIT3_000025" "g.57894221C>T" "" "" "" "MARS1(NM_004990.4):c.1209C>T (p.G403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930121" "0" "50" "12" "57908633" "57908633" "subst" "2.43904E-5" "02330" "DDIT3_000026" "g.57908633C>T" "" "" "" "MARS1(NM_004990.4):c.2098C>T (p.R700W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930122" "0" "50" "12" "57908964" "57908964" "subst" "4.06299E-5" "02327" "DDIT3_000027" "g.57908964G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950005" "0" "30" "12" "57863433" "57863433" "subst" "0.0026993" "01804" "ARHGAP9_000014" "g.57863433C>T" "" "" "" "GLI1(NM_001160045.1):c.1144C>T (p.(Arg382Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950006" "0" "30" "12" "57865558" "57865558" "subst" "0.00551695" "01804" "ARHGAP9_000015" "g.57865558G>T" "" "" "" "GLI1(NM_001160045.1):c.2651G>T (p.(Gly884Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000967015" "0" "50" "12" "57894157" "57894157" "subst" "0" "02330" "DDIT3_000028" "g.57894157A>C" "" "" "" "MARS1(NM_004990.4):c.1145A>C (p.D382A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967016" "0" "50" "12" "57905490" "57905490" "subst" "1.2188E-5" "02327" "DDIT3_000029" "g.57905490C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980397" "0" "30" "12" "57884125" "57884125" "subst" "0.000849228" "01804" "ARHGAP9_000004" "g.57884125G>A" "" "" "" "MARS(NM_004990.4):c.626G>A (p.(Ser209Asn)), MARS1(NM_004990.4):c.626G>A (p.S209N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980398" "0" "30" "12" "57884337" "57884337" "subst" "0.00041824" "01804" "ARHGAP9_000005" "g.57884337C>T" "" "" "" "MARS(NM_004990.4):c.680C>T (p.(Thr227Ile)), MARS1(NM_004990.4):c.680C>T (p.T227I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015004" "0" "10" "12" "57905612" "57905612" "subst" "0.00559908" "02330" "DDIT3_000030" "g.57905612A>G" "" "" "" "MARS1(NM_004990.4):c.1500A>G (p.K500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001039390" "0" "30" "12" "57909119" "57909119" "subst" "0.000796512" "02325" "DDIT3_000031" "g.57909119A>C" "" "" "" "MARS1(NM_004990.4):c.2391A>C (p.T797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes MARS ## Count = 89 "{{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}}" "0000128167" "00011827" "90" "1108" "0" "1108" "0" "c.1108T>C" "r.(?)" "p.(Phe370Leu)" "10" "0000128168" "00011827" "90" "1568" "0" "1568" "0" "c.1568T>C" "r.(?)" "p.(Ile523Thr)" "13" "0000128169" "00011827" "90" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Tyr344Cys)" "9" "0000128170" "00011827" "30" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Ala393Thr)" "10" "0000128171" "00011827" "70" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Ser567Leu)" "14" "0000128173" "00011827" "70" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Arg618Cys)" "15" "0000128174" "00011827" "70" "2398" "0" "2398" "0" "c.2398C>A" "r.(?)" "p.(Pro800Thr)" "19" "0000128175" "00011827" "70" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Asp145Asn)" "5" "0000128176" "00011827" "70" "2405" "0" "2405" "0" "c.2405T>C" "r.(?)" "p.(Phe802Ser)" "19" "0000128177" "00011827" "70" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Val5Met)" "1" "0000128178" "00011827" "70" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Trp)" "17" "0000147249" "00011827" "90" "1108" "0" "1108" "0" "c.1108T>C" "r.(?)" "p.Phe370Leu" "10" "0000147250" "00011827" "90" "1568" "0" "1568" "0" "c.1568T>C" "r.(?)" "p.Ile523Thr" "13" "0000147256" "00011827" "70" "1814" "0" "1814" "0" "c.1814A>T" "r.(?)" "p.(Asp605Val)" "15" "0000147258" "00011827" "30" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Ala393Thr)" "10" "0000147260" "00011827" "70" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Ser567Leu)" "14" "0000147261" "00011827" "90" "1177" "0" "1177" "0" "c.[1177G>A;1700C>T]" "-" "p.[(Ala393Thr);(Ser567Leu]" "10_14" "0000147263" "00011827" "70" "1700" "0" "1700" "0" "c.1700C>T" "r.(?)" "p.(Ser567Leu)" "14" "0000147264" "00011827" "30" "1177" "0" "1177" "0" "c.1177G>A" "r.(?)" "p.(Ala393Thr)" "10" "0000147266" "00011827" "70" "1814" "0" "1814" "0" "c.1814A>T" "r.(?)" "p.(Asp605Val)" "15" "0000147267" "00011827" "70" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Tyr344Cys)" "9" "0000147269" "00011827" "70" "1852" "0" "1852" "0" "c.1852C>T" "r.(?)" "p.(Arg618Cys)" "15" "0000147270" "00011827" "50" "1448" "0" "1448" "0" "c.1448G>A" "r.(?)" "p.(Arg483His)" "12" "0000147271" "00011827" "30" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727Gln)" "17" "0000247155" "00011827" "10" "1753" "7" "1753" "7" "c.1753+7A>G" "r.(=)" "p.(=)" "" "0000247171" "00011827" "30" "490" "14" "490" "14" "c.490+14A>G" "r.(=)" "p.(=)" "" "0000279606" "00011827" "10" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727Gln)" "" "0000279607" "00011827" "10" "2204" "11" "2204" "11" "c.2204+11G>A" "r.(=)" "p.(=)" "" "0000279608" "00011827" "10" "280" "-14" "280" "-14" "c.280-14C>T" "r.(=)" "p.(=)" "" "0000353646" "00011827" "70" "920" "0" "920" "0" "c.920A>G" "r.(920a>g)" "p.(Tyr307Cys)" "9" "0000353647" "00011827" "90" "1852" "0" "1852" "0" "c.1852C>T" "r.(1852c>u)" "p.(Arg618Cys)" "15" "0000548769" "00011827" "50" "43" "0" "43" "0" "c.43G>C" "r.(?)" "p.(Val15Leu)" "" "0000548770" "00011827" "30" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Pro206Leu)" "" "0000548771" "00011827" "30" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Pro206Leu)" "" "0000548772" "00011827" "30" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Ser209Asn)" "" "0000548773" "00011827" "30" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Ile)" "" "0000548774" "00011827" "10" "873" "0" "873" "0" "c.873C>T" "r.(?)" "p.(Ala291=)" "" "0000548775" "00011827" "50" "986" "0" "986" "0" "c.986C>A" "r.(?)" "p.(Pro329His)" "" "0000548776" "00011827" "70" "1055" "0" "1055" "0" "c.1055A>G" "r.(?)" "p.(Asp352Gly)" "" "0000548777" "00011827" "50" "1369" "-3" "1369" "-3" "c.1369-3C>G" "r.spl?" "p.?" "" "0000548778" "00011827" "10" "1689" "0" "1689" "0" "c.1689C>T" "r.(?)" "p.(Val563=)" "" "0000548779" "00011827" "50" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Val685Ile)" "" "0000548780" "00011827" "30" "2277" "0" "2277" "0" "c.2277C>T" "r.(?)" "p.(Tyr759=)" "" "0000548781" "00011827" "50" "2286" "0" "2286" "0" "c.2286G>A" "r.(?)" "p.(Thr762=)" "" "0000548782" "00011827" "10" "2532" "0" "2532" "0" "c.2532G>A" "r.(?)" "p.(Ala844=)" "" "0000614317" "00011827" "30" "110" "-10" "110" "-10" "c.110-10C>T" "r.(=)" "p.(=)" "" "0000614318" "00011827" "50" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Arg439Gln)" "" "0000614319" "00011827" "50" "1447" "0" "1447" "0" "c.1447C>T" "r.(?)" "p.(Arg483Cys)" "" "0000622944" "00011827" "30" "-18" "0" "-18" "0" "c.-18C>T" "r.(?)" "p.(=)" "" "0000622945" "00011827" "30" "78" "0" "78" "0" "c.78A>G" "r.(?)" "p.(Ala26=)" "" "0000622946" "00011827" "30" "280" "-14" "280" "-14" "c.280-14C>T" "r.(=)" "p.(=)" "" "0000622947" "00011827" "30" "630" "0" "630" "0" "c.630C>T" "r.(?)" "p.(Pro210=)" "" "0000657163" "00011827" "50" "902" "0" "902" "0" "c.902G>A" "r.(?)" "p.(Arg301His)" "" "0000679607" "00011827" "10" "792" "0" "792" "0" "c.792G>A" "r.(?)" "p.(Arg264=)" "" "0000691397" "00011827" "50" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625Trp)" "" "0000724159" "00011827" "30" "2204" "11" "2204" "11" "c.2204+11G>A" "r.(=)" "p.(=)" "" "0000724160" "00011827" "50" "2465" "0" "2465" "0" "c.2465C>T" "r.(?)" "p.(Ala822Val)" "" "0000805869" "00011827" "50" "263" "0" "263" "0" "c.263A>T" "r.(?)" "p.(Glu88Val)" "" "0000805870" "00011827" "10" "663" "11" "663" "11" "c.663+11G>A" "r.(=)" "p.(=)" "" "0000805871" "00011827" "70" "1091" "1" "1091" "1" "c.1091+1G>A" "r.spl?" "p.?" "" "0000805872" "00011827" "50" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625Trp)" "" "0000805873" "00011827" "50" "2093" "0" "2093" "0" "c.2093A>T" "r.(?)" "p.(Lys698Met)" "" "0000805874" "00011827" "50" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000805875" "00011827" "30" "2256" "0" "2256" "0" "c.2256C>G" "r.(?)" "p.(Leu752=)" "" "0000805876" "00011827" "50" "2391" "3" "2391" "3" "c.2391+3A>G" "r.spl?" "p.?" "" "0000847867" "00011827" "90" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Cys389Tyr)" "" "0000847868" "00011827" "90" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625Trp)" "" "0000853470" "00011827" "30" "2557" "-14" "2557" "-14" "c.2557-14C>T" "r.(=)" "p.(=)" "" "0000863080" "00011827" "30" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727Gln)" "" "0000890702" "00011827" "30" "78" "0" "78" "0" "c.78A>G" "r.(?)" "p.(Ala26=)" "" "0000890703" "00011827" "30" "415" "-5" "415" "-5" "c.415-5del" "r.spl?" "p.?" "" "0000890704" "00011827" "50" "842" "0" "842" "0" "c.842T>G" "r.(?)" "p.(Leu281Arg)" "" "0000890705" "00011827" "30" "1689" "0" "1689" "0" "c.1689C>T" "r.(?)" "p.(Val563=)" "" "0000890706" "00011827" "50" "1873" "0" "1873" "0" "c.1873C>T" "r.(?)" "p.(Arg625Trp)" "" "0000890707" "00011827" "50" "2114" "0" "2114" "0" "c.2114dup" "r.(?)" "p.(Leu705Phefs*19)" "" "0000890708" "00011827" "30" "2116" "0" "2116" "0" "c.2116C>T" "r.(?)" "p.(Arg706Cys)" "" "0000913916" "00011827" "50" "699" "0" "699" "0" "c.699T>G" "r.(?)" "p.(Ile233Met)" "" "0000913917" "00011827" "70" "1055" "0" "1055" "0" "c.1055A>G" "r.(?)" "p.(Asp352Gly)" "" "0000925669" "00011827" "30" "1209" "0" "1209" "0" "c.1209C>T" "r.(?)" "p.(Gly403=)" "" "0000930121" "00011827" "50" "2098" "0" "2098" "0" "c.2098C>T" "r.(?)" "p.(Arg700Trp)" "" "0000930122" "00011827" "50" "2236" "0" "2236" "0" "c.2236G>T" "r.(?)" "p.(Val746Leu)" "" "0000950005" "00011827" "30" "-18441" "0" "-18441" "0" "c.-18441C>T" "r.(?)" "p.(=)" "" "0000950006" "00011827" "30" "-16316" "0" "-16316" "0" "c.-16316G>T" "r.(?)" "p.(=)" "" "0000967015" "00011827" "50" "1145" "0" "1145" "0" "c.1145A>C" "r.(?)" "p.(Asp382Ala)" "" "0000967016" "00011827" "50" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Arg460*)" "" "0000980397" "00011827" "30" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Ser209Asn)" "" "0000980398" "00011827" "30" "680" "0" "680" "0" "c.680C>T" "r.(?)" "p.(Thr227Ile)" "" "0001015004" "00011827" "10" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(=)" "" "0001039390" "00011827" "30" "2391" "0" "2391" "0" "c.2391A>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000079439" "0000128167" "0000079439" "0000128168" "0000079440" "0000128169" "0000079440" "0000128170" "0000079440" "0000128171" "0000079441" "0000128173" "0000079442" "0000128174" "0000079443" "0000128175" "0000079443" "0000128176" "0000079444" "0000128177" "0000079444" "0000128178" "0000089325" "0000147256" "0000089328" "0000147258" "0000089328" "0000147260" "0000089333" "0000147270" "0000154168" "0000353646" "0000154168" "0000353647" "0000410537" "0000847867" "0000410537" "0000847868"