### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MOCS2) # 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}}" "MOCS2" "molybdenum cofactor synthesis 2" "5" "q11" "unknown" "NG_008435.2" "NC_000005.9" "" "https://www.LOVD.nl/MOCS2" "" "1" "7193" "4338" "603708" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-05-26 17:17:05" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00025513" "MOCS2" "transcript variant 1" "001" "NM_176806.3" "" "NP_789776.1" "" "" "" "-43" "3677" "267" "52405602" "52391509" "00001" "2020-05-27 16:25:55" "" "" "00025515" "MOCS2" "transcript variant 3" "002" "NM_004531.4" "" "NP_004522.1" "" "" "" "-691" "3490" "567" "52405602" "52391509" "00006" "2020-05-27 17:07:32" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01928" "MOCODB" "deficiency, Molybdenum cofactor, complementation group B (MOCODB)" "AR" "252160" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05759" "MOCOD" "deficiency, Molybdenum cofactor (MOCOD)" "" "" "" "" "" "00006" "2020-05-26 17:28:16" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "MOCS2" "00139" "MOCS2" "01928" "MOCS2" "05759" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00293883" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302631" "" "" "" "1" "" "00006" "{PMID:Riess 1999:10053004}" "" "" "" "Egypt" "" "0" "" "" "Coptic" "Pat1" "00302632" "" "" "" "1" "" "00006" "{PMID:Riess 1999:10053004}" "" "" "" "Portugal" "" "0" "" "" "" "Pat2" "00302633" "" "" "" "1" "" "00006" "{PMID:Riess 1999:10053004}" "" "" "" "Italy" "" "0" "" "" "" "Pat3" "00302634" "" "" "" "1" "" "00006" "{PMID:Riess 1999:10053004}" "" "" "" "Germany" "" "0" "" "" "" "Pat4" "00302635" "" "" "" "1" "" "00006" "{PMID:Riess 1999:10053004}" "" "" "" "France" "" "0" "" "" "" "Pat5" "00302636" "" "" "" "1" "" "00006" "{PMID:Riess 1999:10053004}" "" "" "" "Portugal" "" "0" "" "" "" "Pat6" "00302637" "" "" "" "1" "" "00006" "{PMID:Riess 1999:10053004}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat7" "00302638" "" "" "" "1" "" "00006" "{PMID:Johnson 2001:11746050}" "" "F" "no" "China" "" "0" "" "" "" "patient" "00302639" "" "" "" "1" "" "00006" "{PMID:Leimkuhler 2005:16021469}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00302640" "" "" "" "1" "" "00006" "{PMID:Leimkuhler 2005:16021469}" "" "" "" "Mexico" "" "0" "" "" "" "" "00302641" "" "" "" "1" "" "00006" "{PMID:Per 2007:17158010}" "2-generation family, 1 affected, 3 deceased sibs, unaffected heterozygous carrier parents/relatives" "M" "yes" "Turkey" "" "0" "" "" "" "patient" "00302642" "" "" "" "1" "" "00006" "{PMID:Hahnewald 2006:16737835}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Senegal" "00y00m23d" "0" "" "" "" "patient" "00302643" "" "" "" "1" "" "00006" "{PMID:Reiss 2011:21031595}" "" "" "" "" "" "0" "" "" "" "" "00302644" "" "" "" "1" "" "00006" "{PMID:Reiss 2011:21031595}" "" "" "" "" "" "0" "" "" "" "" "00302645" "" "" "" "1" "" "00006" "{PMID:Reiss 2011:21031595}" "" "" "" "" "" "0" "" "" "" "" "00302646" "" "" "" "1" "" "00006" "{PMID:Reiss 2011:21031595}" "" "" "" "France" "" "0" "" "" "" "" "00302647" "" "" "" "1" "" "00006" "{PMID:Reiss 2003:12754701}" "" "" "" "" "" "0" "" "" "" "" "00302648" "" "" "" "1" "" "00006" "{PMID:Reiss 2003:12754701}" "" "" "" "" "" "0" "" "" "" "" "00302649" "" "" "" "1" "" "00006" "{PMID:Reiss 2003:12754701}" "" "" "" "" "" "0" "" "" "" "" "00302650" "" "" "" "1" "" "00006" "{PMID:Reiss 2003:12754701}" "" "" "" "" "" "0" "" "" "" "" "00302651" "" "" "" "1" "" "00006" "{PMID:Reiss 2003:12754701}" "" "" "" "" "" "0" "" "" "" "" "00302652" "" "" "" "1" "" "00006" "{PMID:Reiss 2003:12754701}" "" "" "" "" "" "0" "" "" "" "" "00302653" "" "" "" "1" "" "00006" "{PMID:Reiss 2003:12754701}" "" "" "" "" "" "0" "" "" "" "" "00302654" "" "" "" "1" "" "00006" "{PMID:Reiss 2003:12754701}" "" "" "" "" "" "0" "" "" "" "" "00428067" "" "" "" "1" "" "00006" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "2-generation family, 1 affected, unaffected non carrier parents, older sister with simple febrile seizures, otherwise healthy" "M" "" "United States" "" "0" "" "" "Europe" "Pat6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00293883" "00198" "00302631" "05759" "00302632" "05759" "00302633" "05759" "00302634" "05759" "00302635" "05759" "00302636" "05759" "00302637" "05759" "00302638" "05759" "00302639" "05759" "00302640" "05759" "00302641" "05759" "00302642" "05759" "00302643" "05759" "00302644" "05759" "00302645" "05759" "00302646" "05759" "00302647" "05759" "00302648" "05759" "00302649" "05759" "00302650" "05759" "00302651" "05759" "00302652" "05759" "00302653" "05759" "00302654" "05759" "00428067" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01928, 05611, 05759 ## Count = 25 "{{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}}" "0000229712" "05759" "00302631" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229713" "05759" "00302632" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229714" "05759" "00302633" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229715" "05759" "00302634" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229716" "05759" "00302635" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229717" "05759" "00302636" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229718" "05759" "00302637" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229719" "05759" "00302638" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229720" "05759" "00302639" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229721" "05759" "00302640" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229722" "05759" "00302641" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229723" "05759" "00302642" "00006" "Familial, autosomal recessive" "" "see paper; ..., healthy at birth; 3d-feeding difficulties, hypotonia, drug-resistant tonic seizures and clonic seizures, elevated sulfite and diminished uric acid in urine; 21d-died cardiorespiratory arrest" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229724" "05759" "00302643" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229725" "05759" "00302644" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229726" "05759" "00302645" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229727" "05759" "00302646" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229728" "05759" "00302647" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229729" "05759" "00302648" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229730" "05759" "00302649" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229731" "05759" "00302650" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229732" "05759" "00302651" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229733" "05759" "00302652" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229734" "05759" "00302653" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000229735" "05759" "00302654" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "MOCODB" "molybdenum cofactor deficiency" "" "0000319013" "05611" "00428067" "00006" "Isolated (sporadic)" "2y" "brith at term; delayed speech development; delayed gross motor development; delayed fine motor milestones; mild global developmental delay; 19m-generalized-tonic clonic seizures; no autism; hypotonia; MRI brain retrocerebellar arachnoid cysts; overly friendly in comparison with two older sisters; no failure to thrive; no feeding problems; no dysmotility; no hypoventilation; no vision/eye abnormalities; no hearing impairment; no dysmorphic features; no congenital anomalies; muscle biopsy normal" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295051" "00293883" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303755" "00302631" "1" "00006" "00006" "2020-05-26 19:08:58" "" "" "SEQ" "DNA" "" "" "0000303756" "00302632" "1" "00006" "00006" "2020-05-26 19:08:58" "" "" "SEQ" "DNA" "" "" "0000303757" "00302633" "1" "00006" "00006" "2020-05-26 19:08:58" "" "" "SEQ" "DNA" "" "" "0000303758" "00302634" "1" "00006" "00006" "2020-05-26 19:08:58" "" "" "SEQ" "DNA" "" "" "0000303759" "00302635" "1" "00006" "00006" "2020-05-26 19:08:58" "" "" "SEQ" "DNA" "" "" "0000303760" "00302636" "1" "00006" "00006" "2020-05-26 19:08:58" "" "" "SEQ" "DNA" "" "" "0000303761" "00302637" "1" "00006" "00006" "2020-05-26 19:08:58" "" "" "SEQ" "DNA" "" "" "0000303762" "00302638" "1" "00006" "00006" "2020-05-26 19:27:17" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000303763" "00302639" "1" "00006" "00006" "2020-05-26 20:40:57" "" "" "SEQ" "DNA" "" "" "0000303764" "00302640" "1" "00006" "00006" "2020-05-26 20:40:57" "" "" "SEQ" "DNA" "" "" "0000303765" "00302641" "1" "00006" "00006" "2020-05-27 08:19:47" "" "" "SEQ" "DNA" "" "" "0000303766" "00302642" "1" "00006" "00006" "2020-05-27 08:31:56" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000303767" "00302643" "1" "00006" "00006" "2020-05-27 08:53:15" "" "" "SEQ" "DNA" "" "" "0000303768" "00302644" "1" "00006" "00006" "2020-05-27 08:53:15" "" "" "SEQ" "DNA" "" "" "0000303769" "00302645" "1" "00006" "00006" "2020-05-27 08:53:15" "" "" "SEQ" "DNA" "" "" "0000303770" "00302646" "1" "00006" "00006" "2020-05-27 09:01:26" "" "" "SEQ" "DNA" "" "" "0000303771" "00302647" "1" "00006" "00006" "2020-05-27 09:01:26" "" "" "SEQ" "DNA" "" "" "0000303772" "00302648" "1" "00006" "00006" "2020-05-27 09:01:26" "" "" "SEQ" "DNA" "" "" "0000303773" "00302649" "1" "00006" "00006" "2020-05-27 09:38:24" "" "" "SEQ" "DNA" "" "" "0000303774" "00302650" "1" "00006" "00006" "2020-05-27 09:38:24" "" "" "SEQ" "DNA" "" "" "0000303775" "00302651" "1" "00006" "00006" "2020-05-27 09:38:24" "" "" "SEQ" "DNA" "" "" "0000303776" "00302652" "1" "00006" "00006" "2020-05-27 09:45:28" "" "" "SEQ" "DNA" "" "" "0000303777" "00302653" "1" "00006" "00006" "2020-05-27 09:45:28" "" "" "SEQ" "DNA" "" "" "0000303778" "00302654" "1" "00006" "00006" "2020-05-27 09:45:28" "" "" "SEQ" "DNA" "" "" "0000429479" "00428067" "1" "00006" "00006" "2022-12-21 10:47:09" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{geneid}}" "0000303755" "MOCS2" "0000303756" "MOCS2" "0000303757" "MOCS2" "0000303758" "MOCS2" "0000303759" "MOCS2" "0000303760" "MOCS2" "0000303761" "MOCS2" "0000303762" "MOCS2" "0000303763" "MOCS2" "0000303764" "MOCS2" "0000303765" "MOCS2" "0000303766" "MOCS2" "0000303767" "MOCS2" "0000303768" "MOCS2" "0000303769" "MOCS2" "0000303770" "MOCS2" "0000303771" "MOCS2" "0000303772" "MOCS2" "0000303773" "MOCS2" "0000303774" "MOCS2" "0000303775" "MOCS2" "0000303776" "MOCS2" "0000303777" "MOCS2" "0000303778" "MOCS2" ## 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 = 46 "{{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}}" "0000279853" "0" "10" "5" "52398005" "52398005" "subst" "0.0388454" "02330" "MOCS2_000008" "g.52398005T>C" "" "" "" "MOCS2(NM_004531.5):c.148A>G (p.T50A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53102175T>C" "" "benign" "" "0000279855" "0" "10" "5" "52397311" "52397311" "subst" "0.0388772" "02330" "MOCS2_000004" "g.52397311T>C" "" "" "" "MOCS2(NM_004531.5):c.255A>G (p.K85=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53101481T>C" "" "benign" "" "0000282565" "0" "50" "5" "52403014" "52403014" "subst" "0.00067455" "02325" "MOCS2_000010" "g.52403014G>A" "" "" "" "MOCS2(NM_176806.3):c.178C>T (p.R60C), MOCS2(NM_176806.4):c.178C>T (p.R60C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53107184G>A" "" "VUS" "" "0000282566" "0" "50" "5" "52397270" "52397270" "subst" "0.000837487" "02325" "MOCS2_000003" "g.52397270G>A" "" "" "" "MOCS2(NM_004531.5):c.296C>T (p.A99V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53101440G>A" "" "VUS" "" "0000282567" "0" "30" "5" "52397199" "52397199" "subst" "0.00363409" "02325" "MOCS2_000002" "g.52397199G>A" "" "" "" "MOCS2(NM_004531.5):c.367C>T (p.H123Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.53101369G>A" "" "likely benign" "" "0000525816" "0" "30" "5" "52394439" "52394439" "subst" "0.000857786" "02326" "ITGA2_000016" "g.52394439T>C" "" "" "" "MOCS2(NM_004531.5):c.560A>G (p.N187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53098609T>C" "" "likely benign" "" "0000525818" "0" "10" "5" "52397359" "52397362" "dup" "0" "02330" "MOCS2_000012" "g.52397359_52397362dup" "" "" "" "MOCS2(NM_004531.5):c.227-20_227-17dupCTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53101529_53101532dup" "" "benign" "" "0000525819" "0" "90" "5" "52402946" "52402946" "dup" "0" "02325" "MOCS2_000013" "g.52402946dup" "" "" "" "MOCS2(NM_004531.5):c.65dup (p.(Leu23IlefsTer5)), MOCS2(NM_004531.5):c.65dupC (p.L23Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53107116dup" "" "pathogenic" "" "0000525820" "0" "50" "5" "52402948" "52402948" "subst" "2.43645E-5" "01943" "MOCS2_000014" "g.52402948T>A" "" "" "" "MOCS2(NM_004531.4):c.57A>T (p.L19F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53107118T>A" "" "VUS" "" "0000621576" "0" "30" "5" "52394489" "52394489" "subst" "0.000187585" "01943" "ITGA2_000018" "g.52394489G>A" "" "" "" "MOCS2(NM_004531.4):c.510C>T (p.Y170=), MOCS2(NM_004531.5):c.510C>T (p.Y170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53098659G>A" "" "likely benign" "" "0000621577" "0" "30" "5" "52394489" "52394489" "subst" "0.000187585" "02326" "ITGA2_000018" "g.52394489G>A" "" "" "" "MOCS2(NM_004531.4):c.510C>T (p.Y170=), MOCS2(NM_004531.5):c.510C>T (p.Y170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53098659G>A" "" "likely benign" "" "0000621578" "0" "30" "5" "52398035" "52398035" "subst" "0" "01943" "MOCS2_000015" "g.52398035C>T" "" "" "" "MOCS2(NM_004531.4):c.118G>A (p.E40K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.53102205C>T" "" "likely benign" "" "0000651740" "1" "50" "5" "52397199" "52397199" "subst" "0.00363409" "03575" "MOCS2_000002" "g.52397199G>A" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs2233218}" "Germline" "" "rs2233218" "0" "" "" "g.53101369G>A" "" "VUS" "" "0000667139" "3" "90" "5" "52405557" "52405557" "subst" "0" "00006" "MOCS2_000029" "g.52405557C>G" "" "{PMID:Riess 1999:10053004}" "" "3G>A (M1I)" "" "Germline" "" "" "0" "" "" "g.53109727C>G" "" "pathogenic (recessive)" "" "0000667140" "3" "90" "5" "52402946" "52402946" "dup" "0" "00006" "MOCS2_000038" "g.52402946dup" "" "{PMID:Riess 1999:10053004}" "" "252insC" "" "Germline" "" "" "0" "" "" "g.53107116dup" "" "pathogenic (recessive)" "" "0000667141" "3" "90" "5" "52397219" "52397222" "del" "0" "00006" "MOCS2_000016" "g.52397219_52397222del" "" "{PMID:Riess 1999:10053004}" "" "533del4" "" "Germline" "" "" "0" "" "" "g.53101389_53101392del" "" "pathogenic (recessive)" "" "0000667142" "1" "90" "5" "52394460" "52394461" "del" "9.35484E-5" "00006" "MOCS2_000017" "g.52394460_52394461del" "" "{PMID:Riess 1999:10053004}" "" "726del2" "" "Germline" "" "" "0" "" "" "g.53098630_53098631del" "" "pathogenic (recessive)" "" "0000667143" "3" "90" "5" "52394460" "52394461" "del" "9.35484E-5" "00006" "MOCS2_000017" "g.52394460_52394461del" "" "{PMID:Riess 1999:10053004}" "" "726del2" "" "Germline" "" "" "0" "" "" "g.53098630_53098631del" "" "pathogenic (recessive)" "" "0000667144" "3" "90" "5" "52394460" "52394461" "del" "9.35484E-5" "00006" "MOCS2_000017" "g.52394460_52394461del" "" "{PMID:Riess 1999:10053004}" "" "726del2" "" "Germline" "" "" "0" "" "" "g.53098630_53098631del" "" "pathogenic (recessive)" "" "0000667145" "3" "90" "5" "52394460" "52394461" "del" "9.35484E-5" "00006" "MOCS2_000017" "g.52394460_52394461del" "" "{PMID:Riess 1999:10053004}" "" "726del2" "" "Germline" "" "" "0" "" "" "g.53098630_53098631del" "" "pathogenic (recessive)" "" "0000667147" "2" "90" "5" "52394497" "52394497" "subst" "0" "00006" "MOCS2_000018" "g.52394497C>T" "" "{PMID:Riess 1999:10053004}" "" "689G>A (E168K)" "" "Germline" "" "" "0" "" "" "g.53098667C>T" "" "pathogenic (recessive)" "" "0000667148" "1" "90" "5" "52405544" "52405544" "subst" "2.68658E-5" "00006" "MOCS2_000019" "g.52405544G>A" "" "{PMID:Johnson 2001:11746050}" "" "16C>T (Q6X)" "" "Germline" "" "" "0" "" "" "g.53109714G>A" "" "pathogenic (recessive)" "" "0000667149" "2" "90" "5" "52404473" "52404473" "subst" "4.09621E-6" "00006" "MOCS2_000020" "g.52404473C>A" "" "{PMID:Johnson 2001:11746050}" "" "19G>T (V7F)" "" "Germline" "" "" "0" "" "" "g.53108643C>A" "" "pathogenic (recessive)" "" "0000667150" "0" "90" "5" "52404459" "52404459" "subst" "2.84796E-5" "00006" "MOCS2_000021" "g.52404459A>C" "" "{PMID:Leimkuhler 2005:16021469}" "" "(Y11X)" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53108629A>C" "" "pathogenic (recessive)" "" "0000667151" "3" "90" "5" "52394432" "52394432" "subst" "6.90978E-5" "00006" "MOCS2_000022" "g.52394432T>G" "" "{PMID:Leimkuhler 2005:16021469}" "" "754A>C" "" "Germline" "" "" "0" "" "" "g.53098602T>G" "" "pathogenic (recessive)" "" "0000667152" "3" "90" "5" "52404362" "52404362" "subst" "0" "00006" "MOCS2_000023" "g.52404362G>A" "" "{PMID:Per 2007:17158010}" "" "130C>T (R44X)" "" "Germline" "" "" "0" "" "" "g.53108532G>A" "" "pathogenic (recessive)" "" "0000667153" "3" "90" "5" "52405546" "52405568" "del" "0" "00006" "MOCS2_000024" "g.52405546_52405568del" "" "{PMID:Hahnewald 2006:16737835}" "" "c.-8_15del23 (p.0?)" "" "Germline" "" "" "0" "" "" "g.53109716_53109738del" "" "pathogenic (recessive)" "" "0000667154" "1" "90" "5" "52402972" "52402972" "subst" "0" "00006" "MOCS2_000025" "g.52402972G>A" "" "{PMID:Reiss 2011:21031595}" "" "220C>T (Q74X)" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53107142G>A" "" "pathogenic (recessive)" "" "0000667155" "1" "90" "5" "52397962" "52397962" "subst" "0" "00006" "MOCS2_000027" "g.52397962C>T" "" "{PMID:Reiss 2011:21031595}" "" "564+1G>A" "combination of alleles not reported\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000667156" "1" "90" "5" "52397254" "52397254" "del" "0" "00006" "MOCS2_000028" "g.52397254del" "" "{PMID:Reiss 2011:21031595}" "" "501delA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53101424del" "" "pathogenic (recessive)" "" "0000667157" "1" "90" "5" "52405559" "52405559" "subst" "1.36316E-5" "00006" "MOCS2_000026" "g.52405559T>C" "" "{PMID:Reiss 2011:21031595} pers.comm. SAcquaviva" "" "1A>G (M1V)" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53109729T>C" "" "pathogenic (recessive)" "" "0000667158" "1" "90" "5" "52404447" "52404447" "subst" "4.879E-5" "00006" "MOCS2_000030" "g.52404447A>T" "" "{PMID:Reiss 2003:12754701}" "" "45T>A (S15R)" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53108617A>T" "" "pathogenic (recessive)" "" "0000667159" "1" "90" "5" "52404404" "52404404" "subst" "8.12836E-6" "00006" "MOCS2_000031" "g.52404404G>A" "" "{PMID:Reiss 2003:12754701}" "" "88C>T (Q30X)" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53108574G>A" "" "pathogenic (recessive)" "" "0000667160" "1" "90" "5" "52404386" "52404386" "subst" "0" "00006" "MOCS2_000032" "g.52404386G>A" "" "{PMID:Reiss 2003:12754701}" "" "106C>T (Q36X)" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53108556G>A" "" "pathogenic (recessive)" "" "0000667161" "1" "90" "5" "52397927" "52397927" "subst" "4.88579E-5" "00006" "MOCS2_000033" "g.52397927C>T" "" "{PMID:Reiss 2003:12754701}" "" "413G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53102097C>T" "" "pathogenic (recessive)" "" "0000667162" "1" "90" "5" "52397189" "52397189" "subst" "4.0655E-6" "00006" "MOCS2_000034" "g.52397189C>G" "" "{PMID:Reiss 2003:12754701}" "" "564G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53101359C>G" "" "pathogenic (recessive)" "" "0000667163" "1" "90" "5" "52396292" "52396294" "del" "0" "00006" "MOCS2_000035" "g.52396292_52396294del" "" "{PMID:Reiss 2003:12754701}" "" "635_637del3" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53100462_53100464del" "" "pathogenic (recessive)" "" "0000667164" "1" "90" "5" "52396265" "52396271" "delins" "0" "00006" "MOCS2_000036" "g.52396265_52396271delinsC" "" "{PMID:Reiss 2003:12754701}" "" "658_664del7insG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53100435_53100441delinsC" "" "pathogenic (recessive)" "" "0000667165" "1" "90" "5" "52394468" "52394472" "del" "0" "00006" "MOCS2_000037" "g.52394468_52394472del" "" "{PMID:Reiss 2003:12754701}" "" "714_718del5" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.53098638_53098642del" "" "pathogenic (recessive)" "" "0000720452" "0" "50" "5" "52403014" "52403014" "subst" "0.00067455" "01943" "MOCS2_000010" "g.52403014G>A" "" "" "" "MOCS2(NM_176806.3):c.178C>T (p.R60C), MOCS2(NM_176806.4):c.178C>T (p.R60C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908996" "11" "50" "5" "52402979" "52402979" "subst" "4.46719E-5" "00006" "MOCS2_000039" "g.52402979G>A" "" "{PMID:Paul 2023:36528028}, {DOI:Paul 2023:10.1016/j.ajhg.2022.11.011}" "" "26C>T (no reference transcript)" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000976805" "0" "70" "5" "52397927" "52397927" "subst" "4.88579E-5" "01804" "MOCS2_000033" "g.52397927C>T" "" "" "" "MOCS2(NM_004531.5):c.226G>A (p.(Gly76Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976806" "0" "90" "5" "52402946" "52402946" "dup" "0" "01804" "MOCS2_000013" "g.52402946dup" "" "" "" "MOCS2(NM_004531.5):c.65dup (p.(Leu23IlefsTer5)), MOCS2(NM_004531.5):c.65dupC (p.L23Ifs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000995088" "0" "30" "5" "52394388" "52394388" "subst" "0.00194648" "02325" "ITGA2_000033" "g.52394388T>G" "" "" "" "MOCS2(NM_176806.4):c.*531A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995089" "0" "10" "5" "52397199" "52397199" "subst" "0.00363409" "02326" "MOCS2_000002" "g.52397199G>A" "" "" "" "MOCS2(NM_004531.5):c.367C>T (p.H123Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035239" "0" "50" "5" "52396331" "52396331" "subst" "4.06802E-6" "01804" "MOCS2_000040" "g.52396331A>C" "" "" "" "MOCS2(NM_004531.5):c.411T>G (p.(Ile137Met))" "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 MOCS2 ## Count = 92 "{{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}}" "0000279853" "00025513" "10" "335" "0" "335" "0" "c.*68A>G" "r.(=)" "p.(=)" "" "0000279853" "00025515" "10" "148" "0" "148" "0" "c.148A>G" "r.(?)" "p.(Thr50Ala)" "" "0000279855" "00025513" "10" "442" "0" "442" "0" "c.*175A>G" "r.(=)" "p.(=)" "" "0000279855" "00025515" "10" "255" "0" "255" "0" "c.255A>G" "r.(?)" "p.(Lys85=)" "" "0000282565" "00025513" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60Cys)" "" "0000282565" "00025515" "50" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000282566" "00025513" "50" "483" "0" "483" "0" "c.*216C>T" "r.(=)" "p.(=)" "" "0000282566" "00025515" "50" "296" "0" "296" "0" "c.296C>T" "r.(?)" "p.(Ala99Val)" "" "0000282567" "00025513" "30" "554" "0" "554" "0" "c.*287C>T" "r.(=)" "p.(=)" "" "0000282567" "00025515" "30" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(His123Tyr)" "" "0000525816" "00025513" "30" "747" "0" "747" "0" "c.*480A>G" "r.(=)" "p.(=)" "" "0000525816" "00025515" "30" "560" "0" "560" "0" "c.560A>G" "r.(?)" "p.(Asn187Ser)" "" "0000525818" "00025513" "10" "414" "-20" "414" "-17" "c.*147-20_*147-17dup" "r.(=)" "p.(=)" "" "0000525818" "00025515" "10" "227" "-20" "227" "-17" "c.227-20_227-17dup" "r.(=)" "p.(=)" "" "0000525819" "00025513" "90" "252" "0" "252" "0" "c.252dup" "r.(?)" "p.(Ile85HisfsTer2)" "" "0000525819" "00025515" "90" "65" "0" "65" "0" "c.65dup" "r.(?)" "p.(Leu23IlefsTer5)" "" "0000525820" "00025513" "50" "244" "0" "244" "0" "c.244A>T" "r.(?)" "p.(Ile82Phe)" "" "0000525820" "00025515" "50" "57" "0" "57" "0" "c.57A>T" "r.(?)" "p.(Leu19Phe)" "" "0000621576" "00025513" "30" "697" "0" "697" "0" "c.*430C>T" "r.(=)" "p.(=)" "" "0000621576" "00025515" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Tyr170=)" "" "0000621577" "00025513" "30" "697" "0" "697" "0" "c.*430C>T" "r.(=)" "p.(=)" "" "0000621577" "00025515" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Tyr170=)" "" "0000621578" "00025513" "30" "305" "0" "305" "0" "c.*38G>A" "r.(=)" "p.(=)" "" "0000621578" "00025515" "30" "118" "0" "118" "0" "c.118G>A" "r.(?)" "p.(Glu40Lys)" "" "0000651740" "00025513" "50" "554" "0" "554" "0" "c.*287C>T" "r.(?)" "p.(=)" "" "0000651740" "00025515" "50" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(His123Tyr)" "" "0000667139" "00025513" "90" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.0?" "" "0000667139" "00025515" "90" "-646" "0" "-646" "0" "c.-646G>C" "r.(?)" "p.(=)" "" "0000667140" "00025513" "90" "252" "0" "252" "0" "c.252dup" "r.(?)" "p.(Ile85Hisfs*2)" "" "0000667140" "00025515" "90" "65" "0" "65" "0" "c.65dup" "r.(?)" "p.(Leu23Ilefs*5)" "" "0000667141" "00025513" "90" "533" "0" "536" "0" "c.*266_*269del" "r.(?)" "p.(=)" "" "0000667141" "00025515" "90" "346" "0" "349" "0" "c.346_349del" "r.(?)" "p.(Val116Asnfs*3)" "" "0000667142" "00025513" "90" "726" "0" "727" "0" "c.*459_*460del" "r.(?)" "p.(=)" "" "0000667142" "00025515" "90" "539" "0" "540" "0" "c.539_540del" "r.(?)" "p.(Lys180Argfs*31)" "" "0000667143" "00025513" "90" "726" "0" "727" "0" "c.*459_*460del" "r.(?)" "p.(=)" "" "0000667143" "00025515" "90" "539" "0" "540" "0" "c.539_540del" "r.(?)" "p.(Lys180Argfs*31)" "" "0000667144" "00025513" "90" "726" "0" "727" "0" "c.*459_*460del" "r.(?)" "p.(=)" "" "0000667144" "00025515" "90" "539" "0" "540" "0" "c.539_540del" "r.(?)" "p.(Lys180Argfs*31)" "" "0000667145" "00025513" "90" "726" "0" "727" "0" "c.*459_*460del" "r.(?)" "p.(=)" "" "0000667145" "00025515" "90" "539" "0" "540" "0" "c.539_540del" "r.(?)" "p.(Lys180Argfs*31)" "" "0000667147" "00025513" "90" "689" "0" "689" "0" "c.*422G>A" "r.(?(" "p.(=)" "" "0000667147" "00025515" "90" "502" "0" "502" "0" "c.502G>A" "r.(?(" "p.(Glu168Lys)" "" "0000667148" "00025513" "90" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Gln6*)" "" "0000667148" "00025515" "90" "-633" "0" "-633" "0" "c.-633C>T" "r.(?)" "p.(=)" "" "0000667149" "00025513" "90" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Val7Phe)" "" "0000667149" "00025515" "90" "-169" "0" "-169" "0" "c.-169G>T" "r.(?)" "p.(=)" "" "0000667150" "00025513" "90" "33" "0" "33" "0" "c.33T>G" "r.(?)" "p.(Tyr11*)" "" "0000667150" "00025515" "90" "-155" "0" "-155" "0" "c.-155T>G" "r.(?)" "p.(=)" "" "0000667151" "00025513" "90" "754" "0" "754" "0" "c.*487A>C" "r.(?)" "p.(=)" "" "0000667151" "00025515" "90" "567" "0" "567" "0" "c.567A>C" "r.(?)" "p.(*189Tyrext*18)" "" "0000667152" "00025513" "90" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44*)" "" "0000667152" "00025515" "90" "-58" "0" "-58" "0" "c.-58C>T" "r.(?)" "p.(=)" "" "0000667153" "00025513" "90" "-8" "0" "15" "0" "c.-8_15del" "r.-8_15del" "p.0?" "" "0000667153" "00025515" "90" "-656" "0" "-634" "0" "c.-656_-634del" "r.-656_-634del" "p.(=)" "" "0000667154" "00025513" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74*)" "" "0000667154" "00025515" "90" "33" "0" "33" "0" "c.33C>T" "r.(?)" "p.(=)" "" "0000667155" "00025513" "90" "378" "0" "378" "0" "c.*111G>A" "r.?" "p.?" "" "0000667155" "00025515" "90" "377" "1" "377" "1" "c.377+1G>A" "r.227_377del" "p.?" "" "0000667156" "00025513" "90" "501" "0" "501" "0" "c.*234del" "r.(?)" "p.(=)" "" "0000667156" "00025515" "90" "314" "0" "314" "0" "c.314del" "r.(?)" "p.(Lys105Argfs*15)" "" "0000667157" "00025513" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.0?" "" "0000667157" "00025515" "90" "-648" "0" "-648" "0" "c.-648A>G" "r.(?)" "p.(=)" "" "0000667158" "00025513" "90" "45" "0" "45" "0" "c.45T>A" "r.(?)" "p.(Ser15Arg)" "" "0000667158" "00025515" "90" "-143" "0" "-143" "0" "c.-143T>A" "r.(?)" "p.(=)" "" "0000667159" "00025513" "90" "88" "0" "88" "0" "c.88C>T" "r.(?)" "p.(Gln30*)" "" "0000667159" "00025515" "90" "-100" "0" "-100" "0" "c.-100C>T" "r.(?)" "p.(=)" "" "0000667160" "00025513" "90" "106" "0" "106" "0" "c.106C>T" "r.(?)" "p.(Gln36*)" "" "0000667160" "00025515" "90" "-82" "0" "-82" "0" "c.-82C>T" "r.(?)" "p.(=)" "" "0000667161" "00025513" "90" "413" "0" "413" "0" "c.*146G>A" "r.(?)" "p.(=)" "" "0000667161" "00025515" "90" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Gly76Arg)" "" "0000667162" "00025513" "90" "564" "0" "564" "0" "c.*297G>C" "r.spl?" "p.(=)" "" "0000667162" "00025515" "90" "377" "0" "377" "0" "c.377G>C" "r.spl?" "p.(Gly126Ala)" "" "0000667163" "00025513" "90" "636" "0" "638" "0" "c.*369_*371del" "r.(=)" "p.(=)" "" "0000667163" "00025515" "90" "449" "0" "451" "0" "c.449_451del" "" "p.(Ala150del)" "" "0000667164" "00025513" "90" "658" "0" "664" "0" "c.*391_*397delinsG" "r.(?)" "p.(=)" "" "0000667164" "00025515" "90" "471" "0" "477" "0" "c.471_477delinsG" "r.(?)" "p.(Leu158_Lys159del)" "" "0000667165" "00025513" "90" "719" "0" "723" "0" "c.*452_*456del" "r.(=)" "p.(=)" "" "0000667165" "00025515" "90" "532" "0" "536" "0" "c.532_536del" "" "p.(Gly178Glnfs*32)" "" "0000720452" "00025513" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60Cys)" "" "0000720452" "00025515" "50" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "" "0000908996" "00025513" "50" "213" "0" "213" "0" "c.213C>T" "r.(=)" "p.(=)" "" "0000908996" "00025515" "50" "26" "0" "26" "0" "c.26C>T" "r.(?)" "p.(Ser9Leu)" "" "0000976805" "00025513" "70" "413" "0" "413" "0" "c.*146G>A" "r.(=)" "p.(=)" "" "0000976805" "00025515" "70" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Gly76Arg)" "" "0000976806" "00025513" "90" "252" "0" "252" "0" "c.252dup" "r.(?)" "p.(Ile85HisfsTer2)" "" "0000976806" "00025515" "90" "65" "0" "65" "0" "c.65dup" "r.(?)" "p.(Leu23IlefsTer5)" "" "0000995088" "00025513" "30" "798" "0" "798" "0" "c.*531A>C" "r.(=)" "p.(=)" "" "0000995088" "00025515" "30" "611" "0" "611" "0" "c.*44A>C" "r.(=)" "p.(=)" "" "0000995089" "00025513" "10" "554" "0" "554" "0" "c.*287C>T" "r.(=)" "p.(=)" "" "0000995089" "00025515" "10" "367" "0" "367" "0" "c.367C>T" "r.(?)" "p.(His123Tyr)" "" "0001035239" "00025513" "50" "598" "0" "598" "0" "c.*331T>G" "r.(=)" "p.(=)" "" "0001035239" "00025515" "50" "411" "0" "411" "0" "c.411T>G" "r.(?)" "p.(Ile137Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000295051" "0000651740" "0000303755" "0000667139" "0000303756" "0000667140" "0000303757" "0000667141" "0000303758" "0000667142" "0000303758" "0000667147" "0000303759" "0000667143" "0000303760" "0000667144" "0000303761" "0000667145" "0000303762" "0000667148" "0000303762" "0000667149" "0000303763" "0000667150" "0000303764" "0000667151" "0000303765" "0000667152" "0000303766" "0000667153" "0000303767" "0000667154" "0000303768" "0000667155" "0000303769" "0000667156" "0000303770" "0000667157" "0000303771" "0000667158" "0000303772" "0000667159" "0000303773" "0000667160" "0000303774" "0000667161" "0000303775" "0000667162" "0000303776" "0000667163" "0000303777" "0000667164" "0000303778" "0000667165" "0000429479" "0000908996"