### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MCCC1) # 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}}" "MCCC1" "methylcrotonoyl-CoA carboxylase 1 (alpha)" "3" "q27.1" "unknown" "NG_008100.2" "UD_132084461228" "" "https://www.LOVD.nl/MCCC1" "" "1" "6936" "56922" "609010" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/MCCC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-07-09 19:48:04" "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}}" "00011892" "MCCC1" "methylcrotonoyl-CoA carboxylase 1 (alpha)" "001" "NM_020166.3" "" "NP_064551.3" "" "" "" "-137" "2398" "2178" "182817365" "182733006" "" "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}}" "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" "01677" "MCC1D" "3 methylcrotonyl-CoA carboxylase 1 deficiency (MCC1D)" "AR" "210200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MCCC1" "00139" "MCCC1" "01677" ## Individuals ## Do not remove or alter this header ## ## Count = 30 "{{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}}" "00181032" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181034" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181035" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181071" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00293287" "" "" "" "38" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293288" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00452182" "" "" "" "4" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452183" "" "" "" "3" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452184" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452185" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452186" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452187" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452188" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452189" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452190" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452191" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452192" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452193" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00452194" "" "" "" "1" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" "00453624" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat40" "00453625" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat41" "00453626" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat42" "00453696" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat112" "00453697" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat113" "00453698" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat114" "00453699" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat115" "00453700" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat116" "00453701" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat117" "00453702" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat118" "00453703" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat119" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00181032" "01677" "00181034" "01677" "00181035" "01677" "00181071" "01677" "00293287" "00198" "00293288" "00198" "00452182" "00198" "00452183" "00198" "00452184" "00198" "00452185" "00198" "00452186" "00198" "00452187" "00198" "00452188" "00198" "00452189" "00198" "00452190" "00198" "00452191" "00198" "00452192" "00198" "00452193" "00198" "00452194" "00198" "00453624" "02554" "00453625" "02554" "00453626" "02554" "00453696" "02554" "00453697" "02554" "00453698" "02554" "00453699" "02554" "00453700" "02554" "00453701" "02554" "00453702" "02554" "00453703" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01677, 02554 ## Count = 28 "{{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}}" "0000143284" "01677" "00181032" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143286" "01677" "00181034" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143287" "01677" "00181035" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143324" "01677" "00181071" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000340785" "00198" "00452182" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340786" "00198" "00452183" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340787" "00198" "00452184" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340788" "00198" "00452185" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340789" "00198" "00452186" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340790" "00198" "00452187" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340791" "00198" "00452188" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340792" "00198" "00452189" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340793" "00198" "00452190" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340794" "00198" "00452191" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340795" "00198" "00452192" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340796" "00198" "00452193" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000340797" "00198" "00452194" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCC1D" "3-methylcrotonyl-CoA carboxylase deficiency" "" "0000342281" "02554" "00453624" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "MCC1D" "inborn error of metabolism" "" "0000342282" "02554" "00453625" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "MCC1D" "inborn error of metabolism" "" "0000342283" "02554" "00453626" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "MCC1D" "inborn error of metabolism" "" "0000342353" "02554" "00453696" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342354" "02554" "00453697" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342355" "02554" "00453698" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342356" "02554" "00453699" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342357" "02554" "00453700" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342358" "02554" "00453701" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342359" "02554" "00453702" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342360" "02554" "00453703" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 30 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181980" "00181032" "1" "02568" "02568" "2018-09-21 11:36:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000181982" "00181034" "1" "02568" "02568" "2018-09-21 11:47:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000181983" "00181035" "1" "02568" "02568" "2018-09-21 11:56:12" "" "" "SEQ-NG-I" "DNA" "" "" "0000182019" "00181071" "1" "02568" "02568" "2018-09-21 15:59:35" "" "" "SEQ-NG-I" "DNA" "" "" "0000294455" "00293287" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294456" "00293288" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000453784" "00452182" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453785" "00452183" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453786" "00452184" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453787" "00452185" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453788" "00452186" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453789" "00452187" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453790" "00452188" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453791" "00452189" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453792" "00452190" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453793" "00452191" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453794" "00452192" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453795" "00452193" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453796" "00452194" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455236" "00453624" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455237" "00453625" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455238" "00453626" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455308" "00453696" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455309" "00453697" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455310" "00453698" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455311" "00453699" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455312" "00453700" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455313" "00453701" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455314" "00453702" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" "0000455315" "00453703" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{geneid}}" "0000181980" "MCCC1" "0000181982" "MCCC1" "0000181983" "MCCC1" "0000182019" "MCCC1" "0000453784" "MCCC1" "0000453785" "MCCC1" "0000453786" "MCCC1" "0000453787" "MCCC1" "0000453788" "MCCC1" "0000453789" "MCCC1" "0000453790" "MCCC1" "0000453791" "MCCC1" "0000453792" "MCCC1" "0000453793" "MCCC1" "0000453794" "MCCC1" "0000453795" "MCCC1" "0000453796" "MCCC1" ## 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 = 79 "{{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}}" "0000282407" "0" "10" "3" "182755209" "182755209" "subst" "0.629639" "02325" "MCCC1_000003" "g.182755209T>G" "" "" "" "MCCC1(NM_020166.5):c.1391A>C (p.H464P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183037421T>G" "" "benign" "" "0000282408" "0" "10" "3" "182790249" "182790249" "subst" "0.932372" "02325" "MCCC1_000005" "g.182790249G>A" "" "" "" "MCCC1(NM_020166.5):c.396C>T (p.L132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183072461G>A" "" "benign" "" "0000286158" "0" "90" "3" "182759508" "182759508" "subst" "1.62487E-5" "02326" "MCCC1_000004" "g.182759508G>A" "" "" "" "MCCC1(NM_020166.5):c.1114C>T (p.Q372*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183041720G>A" "" "pathogenic" "" "0000286159" "0" "90" "3" "182810335" "182810335" "subst" "0" "02326" "MCCC1_000007" "g.182810335T>C" "" "" "" "MCCC1(NM_020166.5):c.137-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183092547T>C" "" "pathogenic" "" "0000329715" "0" "30" "3" "182740279" "182740279" "subst" "4.06289E-6" "01804" "MCCC1_000001" "g.182740279T>C" "" "" "" "MCCC1(NM_020166.3):c.1795A>G (p.(Lys599Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183022491T>C" "" "likely benign" "" "0000329718" "0" "50" "3" "182812352" "182812352" "subst" "0.00045075" "01804" "MCCC1_000008" "g.182812352G>A" "" "" "" "MCCC1(NM_020166.3):c.131C>T (p.(Ala44Val)), MCCC1(NM_020166.5):c.131C>T (p.A44V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183094564G>A" "" "VUS" "" "0000329719" "0" "50" "3" "182812353" "182812353" "subst" "0.000450758" "01804" "MCCC1_000009" "g.182812353C>A" "" "" "" "MCCC1(NM_020166.3):c.130G>T (p.(Ala44Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.183094565C>A" "" "VUS" "" "0000405772" "0" "90" "3" "182788864" "182788864" "dup" "0" "02568" "MCCC1_000014" "g.182788864dup" "" "" "" "684dupA" "" "Germline" "" "" "0" "" "" "g.183071076dup" "" "pathogenic" "" "0000405773" "21" "90" "3" "182810335" "182810335" "subst" "0" "02568" "MCCC1_000007" "g.182810335T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183092547T>C" "" "pathogenic" "" "0000405774" "21" "70" "3" "182775100" "182775100" "subst" "0.000137497" "02568" "MCCC1_000013" "g.182775100G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183057312G>A" "" "likely pathogenic" "" "0000405775" "11" "70" "3" "182759361" "182759361" "subst" "1.219E-5" "02568" "MCCC1_000011" "g.182759361G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183041573G>A" "" "likely pathogenic" "" "0000405776" "21" "70" "3" "182763276" "182763276" "subst" "0" "02568" "MCCC1_000012" "g.182763276C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183045488C>G" "" "likely pathogenic" "" "0000405777" "11" "90" "3" "182756860" "182756860" "subst" "2.84331E-5" "02568" "MCCC1_000010" "g.182756860C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183039072C>T" "" "pathogenic" "" "0000405834" "11" "90" "3" "182804480" "182804480" "subst" "0" "02568" "MCCC1_000015" "g.182804480C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.183086692C>T" "" "pathogenic" "" "0000518580" "0" "30" "3" "182733233" "182733233" "subst" "0.000260266" "01804" "MCCC1_000016" "g.182733233G>A" "" "" "" "MCCC1(NM_020166.3):c.2171C>T (p.(Ser724Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183015445G>A" "" "likely benign" "" "0000518581" "0" "30" "3" "182733255" "182733255" "subst" "0.00110029" "01804" "MCCC1_000017" "g.182733255C>T" "" "" "" "MCCC1(NM_020166.3):c.2149G>A (p.(Glu717Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183015467C>T" "" "likely benign" "" "0000518582" "0" "50" "3" "182735057" "182735057" "subst" "8.54117E-5" "01804" "MCCC1_000018" "g.182735057C>G" "" "" "" "MCCC1(NM_020166.3):c.2046G>C (p.(Met682Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183017269C>G" "" "VUS" "" "0000518583" "0" "50" "3" "182755144" "182755144" "subst" "4.06289E-6" "02327" "MCCC1_000019" "g.182755144T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183037356T>C" "" "VUS" "" "0000518584" "0" "10" "3" "182755209" "182755209" "subst" "0.629639" "02327" "MCCC1_000003" "g.182755209T>G" "" "" "" "MCCC1(NM_020166.5):c.1391A>C (p.H464P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183037421T>G" "" "benign" "" "0000518585" "0" "10" "3" "182755209" "182755209" "subst" "0.629639" "02326" "MCCC1_000003" "g.182755209T>G" "" "" "" "MCCC1(NM_020166.5):c.1391A>C (p.H464P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183037421T>G" "" "benign" "" "0000518586" "0" "50" "3" "182763238" "182763238" "subst" "0" "02327" "MCCC1_000020" "g.182763238A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183045450A>G" "" "VUS" "" "0000518587" "0" "90" "3" "182775131" "182775131" "subst" "4.1854E-5" "01943" "MCCC1_000021" "g.182775131G>A" "" "" "" "MCCC1(NM_020166.4):c.841C>T (p.R281*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183057343G>A" "" "pathogenic" "" "0000518588" "0" "50" "3" "182775187" "182775187" "subst" "0" "02327" "MCCC1_000022" "g.182775187C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183057399C>T" "" "VUS" "" "0000518589" "0" "70" "3" "182789098" "182789098" "subst" "4.06114E-6" "02327" "MCCC1_000023" "g.182789098C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183071310C>A" "" "likely pathogenic" "" "0000518590" "0" "10" "3" "182790249" "182790249" "subst" "0.932372" "02327" "MCCC1_000005" "g.182790249G>A" "" "" "" "MCCC1(NM_020166.5):c.396C>T (p.L132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183072461G>A" "" "benign" "" "0000518591" "0" "50" "3" "182810286" "182810286" "subst" "0" "02327" "MCCC1_000024" "g.182810286A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183092498A>C" "" "VUS" "" "0000651144" "1" "50" "3" "182751846" "182751846" "subst" "0.0120522" "03575" "MCCC1_000025" "g.182751846C>T" "38/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 38 heterozygous, no homozygous; {DB:CLININrs34749281}" "Germline" "" "rs34749281" "0" "" "" "g.183034058C>T" "" "VUS" "" "0000651145" "1" "90" "3" "182759430" "182759431" "del" "0" "03575" "MCCC1_000026" "g.182759430_182759431del" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs796051985}" "Germline" "" "rs796051985" "0" "" "" "g.183041642_183041643del" "" "pathogenic" "" "0000654852" "0" "50" "3" "182756833" "182756833" "subst" "0" "01943" "MCCC1_000027" "g.182756833T>C" "" "" "" "MCCC1(NM_020166.4):c.1358A>G (p.Y453C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183039045T>C" "" "VUS" "" "0000654853" "0" "70" "3" "182790257" "182790257" "subst" "1.21913E-5" "02327" "MCCC1_000028" "g.182790257C>T" "" "" "" "MCCC1(NM_020166.4):c.388G>A (p.G130S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.183072469C>T" "" "likely pathogenic" "" "0000676891" "0" "70" "3" "182733318" "182733318" "dup" "0" "01943" "MCCC1_000029" "g.182733318dup" "" "" "" "MCCC1(NM_020166.4):c.2088dupA (p.V697Sfs*19), MCCC1(NM_020166.5):c.2088dupA (p.V697Sfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000676892" "0" "90" "3" "182733318" "182733318" "dup" "0" "02325" "MCCC1_000029" "g.182733318dup" "" "" "" "MCCC1(NM_020166.4):c.2088dupA (p.V697Sfs*19), MCCC1(NM_020166.5):c.2088dupA (p.V697Sfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000676893" "0" "90" "3" "182763270" "182763272" "del" "0" "02327" "MCCC1_000030" "g.182763270_182763272del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000676894" "0" "50" "3" "182804555" "182804555" "subst" "2.43871E-5" "01943" "MCCC1_000031" "g.182804555C>T" "" "" "" "MCCC1(NM_020166.4):c.295G>A (p.G99S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719287" "0" "90" "3" "182759430" "182759431" "del" "0" "01943" "MCCC1_000026" "g.182759430_182759431del" "" "" "" "MCCC1(NM_020166.4):c.1193_1194delTG (p.V398Gfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000719288" "0" "50" "3" "182790257" "182790257" "subst" "1.21913E-5" "01943" "MCCC1_000028" "g.182790257C>T" "" "" "" "MCCC1(NM_020166.4):c.388G>A (p.G130S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719289" "0" "50" "3" "182810298" "182810298" "subst" "0" "02327" "MCCC1_000032" "g.182810298C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801087" "0" "90" "3" "182755073" "182755073" "subst" "0" "02327" "MCCC1_000033" "g.182755073G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885645" "0" "90" "3" "182759467" "182759467" "subst" "0.000134023" "02327" "MCCC1_000034" "g.182759467T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885646" "0" "90" "3" "182769957" "182769957" "subst" "8.12731E-6" "02329" "MCCC1_000035" "g.182769957A>T" "" "" "" "MCCC1(NM_020166.5):c.945T>A (p.Y315*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928741" "0" "70" "3" "182788854" "182788854" "subst" "0" "02325" "MCCC1_000036" "g.182788854G>A" "" "" "" "MCCC1(NM_020166.5):c.694C>T (p.R232W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000962565" "0" "30" "3" "182738001" "182738001" "subst" "0.000402269" "02327" "MCCC1_000037" "g.182738001G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975671" "0" "50" "3" "182756889" "182756889" "subst" "4.46755E-5" "01804" "MCCC1_000038" "g.182756889A>C" "" "" "" "MCCC1(NM_020166.5):c.1302T>G (p.(Ile434Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975672" "0" "50" "3" "182810240" "182810240" "subst" "2.03047E-5" "01804" "MCCC1_000039" "g.182810240G>A" "" "" "" "MCCC1(NM_020166.5):c.230C>T (p.(Ala77Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975673" "0" "70" "3" "182810335" "182810335" "subst" "0" "01804" "MCCC1_000007" "g.182810335T>C" "" "" "" "MCCC1(NM_020166.5):c.137-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000988546" "0" "90" "3" "182788996" "182788996" "subst" "8.12341E-6" "00006" "MCCC1_000044" "g.182788996A>T" "4/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.183071208A>T" "" "pathogenic" "" "0000988547" "0" "50" "3" "182775109" "182775109" "subst" "2.58351E-5" "00006" "MCCC1_000043" "g.182775109T>C" "3/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.183057321T>C" "" "VUS" "" "0000988548" "0" "50" "3" "182810289" "182810289" "subst" "0" "00006" "MCCC1_000048" "g.182810289C>A" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.183092501C>A" "" "VUS" "" "0000988549" "0" "50" "3" "182810280" "182810280" "subst" "0" "00006" "MCCC1_000047" "g.182810280C>T" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.183092492C>T" "" "VUS" "" "0000988550" "0" "50" "3" "182790257" "182790257" "subst" "1.21913E-5" "00006" "MCCC1_000028" "g.182790257C>T" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.183072469C>T" "" "VUS" "" "0000988551" "0" "50" "3" "182790229" "182790229" "subst" "0" "00006" "MCCC1_000046" "g.182790229G>A" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "T139I" "" "Germline" "" "" "0" "" "" "g.183072441G>A" "" "VUS" "" "0000988552" "0" "50" "3" "182790155" "182790155" "del" "0" "00006" "MCCC1_000045" "g.182790155del" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "490delA" "" "Germline" "" "" "0" "" "" "g.183072367del" "" "VUS" "" "0000988553" "0" "50" "3" "182775100" "182775100" "subst" "0.000137497" "00006" "MCCC1_000013" "g.182775100G>A" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.183057312G>A" "" "VUS" "" "0000988554" "0" "70" "3" "182763215" "182763215" "subst" "0" "00006" "MCCC1_000042" "g.182763215C>A" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.183045427C>A" "" "likely pathogenic" "" "0000988555" "0" "70" "3" "0" "0" "" "" "00006" "OPA1_000149" "g.?" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "1103delG (G368Vfs*70)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000988556" "0" "50" "3" "182759486" "182759486" "subst" "0" "00006" "MCCC1_000041" "g.182759486C>T" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.183041698C>T" "" "VUS" "" "0000988557" "0" "50" "3" "182755219" "182755219" "subst" "0" "00006" "MCCC1_000040" "g.182755219C>A" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.183037431C>A" "" "VUS" "" "0000988558" "0" "90" "3" "182751785" "182751785" "dup" "0" "00006" "MCCC1_000002" "g.182751785dup" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "1679dupA" "" "Germline" "" "" "0" "" "" "g.183033997dup" "" "pathogenic" "" "0000993459" "0" "30" "3" "182755096" "182755096" "subst" "4.0622E-6" "01804" "MCCC1_000049" "g.182755096C>G" "" "" "" "MCCC1(NM_020166.3):c.1504G>C (p.(Ala502Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993460" "0" "90" "3" "182775100" "182775100" "subst" "0.000137497" "01804" "MCCC1_000013" "g.182775100G>A" "" "" "" "MCCC1(NM_020166.3):c.872C>T (p.(Ala291Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001007269" "1" "90" "3" "182788864" "182788864" "dup" "0" "00006" "MCCC1_000014" "g.182788864dup" "" "{PMID:Navarrete 2019:30626930}" "" "684dupA" "" "Germline" "" "rs773583869" "0" "" "" "g.183071076dup" "" "pathogenic" "" "0001007270" "1" "70" "3" "182775100" "182775100" "subst" "0.000137497" "00006" "MCCC1_000013" "g.182775100G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183057312G>A" "" "likely pathogenic" "" "0001007271" "1" "70" "3" "182763276" "182763276" "subst" "0" "00006" "MCCC1_000012" "g.182763276C>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183045488C>G" "" "likely pathogenic" "" "0001007341" "1" "90" "3" "182804540" "182804540" "subst" "0" "00006" "MCCC1_000053" "g.182804540G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183086752G>A" "" "pathogenic" "" "0001007342" "1" "70" "3" "182804480" "182804480" "subst" "0" "00006" "MCCC1_000015" "g.182804480C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183086692C>T" "" "likely pathogenic" "" "0001007343" "1" "70" "3" "182789078" "182789078" "subst" "2.437E-5" "00006" "MCCC1_000052" "g.182789078A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183071290A>G" "" "likely pathogenic" "" "0001007344" "1" "70" "3" "182775099" "182775099" "subst" "2.67915E-5" "00006" "MCCC1_000051" "g.182775099C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183057311C>T" "" "likely pathogenic" "" "0001007345" "1" "70" "3" "182759475" "182759475" "subst" "0" "00006" "MCCC1_000050" "g.182759475C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183041687C>T" "" "likely pathogenic" "" "0001007346" "1" "70" "3" "182759467" "182759467" "subst" "0.000134023" "00006" "MCCC1_000034" "g.182759467T>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183041679T>G" "" "likely pathogenic" "" "0001007347" "1" "70" "3" "182759467" "182759467" "subst" "0.000134023" "00006" "MCCC1_000034" "g.182759467T>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183041679T>G" "" "likely pathogenic" "" "0001007348" "1" "70" "3" "182759467" "182759467" "subst" "0.000134023" "00006" "MCCC1_000034" "g.182759467T>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183041679T>G" "" "likely pathogenic" "" "0001007386" "2" "70" "3" "182810335" "182810335" "subst" "0" "00006" "MCCC1_000007" "g.182810335T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183092547T>C" "" "likely pathogenic" "" "0001007387" "2" "70" "3" "182759361" "182759361" "subst" "1.219E-5" "00006" "MCCC1_000011" "g.182759361G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183041573G>A" "" "likely pathogenic" "" "0001007388" "2" "70" "3" "182756860" "182756860" "subst" "2.84331E-5" "00006" "MCCC1_000010" "g.182756860C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.183039072C>T" "" "likely pathogenic" "" "0001013845" "0" "50" "3" "182812352" "182812352" "subst" "0.00045075" "02325" "MCCC1_000008" "g.182812352G>A" "" "" "" "MCCC1(NM_020166.3):c.131C>T (p.(Ala44Val)), MCCC1(NM_020166.5):c.131C>T (p.A44V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024747" "0" "70" "3" "182755006" "182755006" "subst" "0" "02327" "MCCC1_000054" "g.182755006C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033816" "0" "50" "3" "182733319" "182733319" "delins" "0" "01804" "MCCC1_000055" "g.182733319delinsTT" "" "" "" "MCCC1(NM_020166.5):c.2085delinsAA (p.(Val697Serfs*19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033817" "0" "50" "3" "182751841" "182751841" "subst" "4.0663E-6" "01804" "MCCC1_000056" "g.182751841C>T" "" "" "" "MCCC1(NM_020166.5):c.1619G>A (p.(Ser540Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033818" "0" "50" "3" "182755108" "182755108" "subst" "0.000154385" "01804" "MCCC1_000057" "g.182755108G>A" "" "" "" "MCCC1(NM_020166.5):c.1492C>T (p.(Leu498Phe))" "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 MCCC1 ## Count = 79 "{{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}}" "0000282407" "00011892" "10" "1391" "0" "1391" "0" "c.1391A>C" "r.(?)" "p.(His464Pro)" "" "0000282408" "00011892" "10" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Leu132=)" "" "0000286158" "00011892" "90" "1114" "0" "1114" "0" "c.1114C>T" "r.(?)" "p.(Gln372Ter)" "" "0000286159" "00011892" "90" "137" "-2" "137" "-2" "c.137-2A>G" "r.spl?" "p.?" "" "0000329715" "00011892" "30" "1795" "0" "1795" "0" "c.1795A>G" "r.(?)" "p.(Lys599Glu)" "" "0000329718" "00011892" "50" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Ala44Val)" "" "0000329719" "00011892" "50" "130" "0" "130" "0" "c.130G>T" "r.(?)" "p.(Ala44Ser)" "" "0000405772" "00011892" "90" "684" "0" "684" "0" "c.684dup" "r.(?)" "p.(Glu229Argfs*8)" "" "0000405773" "00011892" "90" "137" "-2" "137" "-2" "c.137-2A>G" "r.spl" "p.?" "" "0000405774" "00011892" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ala291Val)" "" "0000405775" "00011892" "70" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421Trp)" "" "0000405776" "00011892" "70" "1008" "0" "1008" "0" "c.1008G>C" "r.(?)" "p.(Met336Ile)" "" "0000405777" "00011892" "90" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444His)" "" "0000405834" "00011892" "90" "369" "1" "369" "1" "c.369+1G>A" "r.(?)" "p.?" "" "0000518580" "00011892" "30" "2171" "0" "2171" "0" "c.2171C>T" "r.(?)" "p.(Ser724Leu)" "" "0000518581" "00011892" "30" "2149" "0" "2149" "0" "c.2149G>A" "r.(?)" "p.(Glu717Lys)" "" "0000518582" "00011892" "50" "2046" "0" "2046" "0" "c.2046G>C" "r.(?)" "p.(Met682Ile)" "" "0000518583" "00011892" "50" "1456" "0" "1456" "0" "c.1456A>G" "r.(?)" "p.(Thr486Ala)" "" "0000518584" "00011892" "10" "1391" "0" "1391" "0" "c.1391A>C" "r.(?)" "p.(His464Pro)" "" "0000518585" "00011892" "10" "1391" "0" "1391" "0" "c.1391A>C" "r.(?)" "p.(His464Pro)" "" "0000518586" "00011892" "50" "1046" "0" "1046" "0" "c.1046T>C" "r.(?)" "p.(Met349Thr)" "" "0000518587" "00011892" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Arg281Ter)" "" "0000518588" "00011892" "50" "785" "0" "785" "0" "c.785G>A" "r.(?)" "p.(Gly262Asp)" "" "0000518589" "00011892" "70" "539" "0" "539" "0" "c.539G>T" "r.(?)" "p.(Gly180Val)" "" "0000518590" "00011892" "10" "396" "0" "396" "0" "c.396C>T" "r.(?)" "p.(Leu132=)" "" "0000518591" "00011892" "50" "184" "0" "184" "0" "c.184T>G" "r.(?)" "p.(Cys62Gly)" "" "0000651144" "00011892" "50" "1614" "0" "1614" "0" "c.1614G>A" "r.(=)" "p.(=)" "" "0000651145" "00011892" "90" "1193" "0" "1194" "0" "c.1193_1194del" "r.(?)" "p.(Val398Glyfs*19)" "" "0000654852" "00011892" "50" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Tyr453Cys)" "" "0000654853" "00011892" "70" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Gly130Ser)" "" "0000676891" "00011892" "70" "2088" "0" "2088" "0" "c.2088dup" "r.(?)" "p.(Val697SerfsTer19)" "" "0000676892" "00011892" "90" "2088" "0" "2088" "0" "c.2088dup" "r.(?)" "p.(Val697SerfsTer19)" "" "0000676893" "00011892" "90" "1013" "0" "1015" "0" "c.1013_1015del" "r.(?)" "p.(Thr338del)" "" "0000676894" "00011892" "50" "295" "0" "295" "0" "c.295G>A" "r.(?)" "p.(Gly99Ser)" "" "0000719287" "00011892" "90" "1193" "0" "1194" "0" "c.1193_1194del" "r.(?)" "p.(Val398Glyfs*19)" "" "0000719288" "00011892" "50" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Gly130Ser)" "" "0000719289" "00011892" "50" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Gly58Arg)" "" "0000801087" "00011892" "90" "1527" "0" "1527" "0" "c.1527C>A" "r.(?)" "p.(Cys509*)" "" "0000885645" "00011892" "90" "1155" "0" "1155" "0" "c.1155A>C" "r.(?)" "p.(Arg385Ser)" "" "0000885646" "00011892" "90" "945" "0" "945" "0" "c.945T>A" "r.(?)" "p.(Tyr315*)" "" "0000928741" "00011892" "70" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Arg232Trp)" "" "0000962565" "00011892" "30" "1894" "0" "1894" "0" "c.1894C>T" "r.(?)" "p.(Pro632Ser)" "" "0000975671" "00011892" "50" "1302" "0" "1302" "0" "c.1302T>G" "r.(?)" "p.(Ile434Met)" "" "0000975672" "00011892" "50" "230" "0" "230" "0" "c.230C>T" "r.(?)" "p.(Ala77Val)" "" "0000975673" "00011892" "70" "137" "-2" "137" "-2" "c.137-2A>G" "r.spl?" "p.?" "" "0000988546" "00011892" "90" "639" "2" "639" "2" "c.639+2T>A" "r.spl" "p.(Ser164Argfs*3)" "" "0000988547" "00011892" "50" "863" "0" "863" "0" "c.863A>G" "r.(?)" "p.(Glu288Gly)" "" "0000988548" "00011892" "50" "181" "0" "181" "0" "c.181G>T" "r.(?)" "p.(Ala61Ser)" "" "0000988549" "00011892" "50" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Val64Met)" "" "0000988550" "00011892" "50" "388" "0" "388" "0" "c.388G>A" "r.(?)" "p.(Gly130Ser)" "" "0000988551" "00011892" "50" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Ala139Val)" "" "0000988552" "00011892" "50" "490" "0" "490" "0" "c.490del" "r.(?)" "p.(Ser164AlafsTer6)" "" "0000988553" "00011892" "50" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ala291Val)" "" "0000988554" "00011892" "70" "1069" "0" "1069" "0" "c.1069G>T" "r.(?)" "p.(Glu357Ter)" "" "0000988555" "00011892" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000988556" "00011892" "50" "1136" "0" "1136" "0" "c.1136G>A" "r.(?)" "p.(Gly379Asp)" "" "0000988557" "00011892" "50" "1381" "0" "1381" "0" "c.1381G>T" "r.(?)" "p.(Val461Phe)" "" "0000988558" "00011892" "90" "1679" "0" "1679" "0" "c.1679dup" "r.(?)" "p.(Asn560LysfsTer10)" "" "0000993459" "00011892" "30" "1504" "0" "1504" "0" "c.1504G>C" "r.(?)" "p.(Ala502Pro)" "" "0000993460" "00011892" "90" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ala291Val)" "" "0001007269" "00011892" "90" "684" "0" "684" "0" "c.684dup" "r.(?)" "p.(Glu229ArgfsTer8)" "7" "0001007270" "00011892" "70" "872" "0" "872" "0" "c.872C>T" "r.(?)" "p.(Ala291Val)" "" "0001007271" "00011892" "70" "1008" "0" "1008" "0" "c.1008G>C" "r.(?)" "p.(Met336Ile)" "10" "0001007341" "00011892" "90" "310" "0" "310" "0" "c.310C>T" "r.(?)" "p.(Gln104Ter)" "" "0001007342" "00011892" "70" "369" "1" "369" "1" "c.369+1G>A" "r.spl" "p.?" "" "0001007343" "00011892" "70" "559" "0" "559" "0" "c.559T>C" "r.(?)" "p.(Ser187Pro)" "" "0001007344" "00011892" "70" "873" "0" "873" "0" "c.873G>A" "r.(?)" "p.(Ala291=)" "" "0001007345" "00011892" "70" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Glu383Lys)" "" "0001007346" "00011892" "70" "1155" "0" "1155" "0" "c.1155A>C" "r.(?)" "p.(Arg385Ser)" "" "0001007347" "00011892" "70" "1155" "0" "1155" "0" "c.1155A>C" "r.(?)" "p.(Arg385Ser)" "" "0001007348" "00011892" "70" "1155" "0" "1155" "0" "c.1155A>C" "r.(?)" "p.(Arg385Ser)" "" "0001007386" "00011892" "70" "137" "-2" "137" "-2" "c.137-2A>G" "r.spl" "p.?" "" "0001007387" "00011892" "70" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421Trp)" "11" "0001007388" "00011892" "70" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Arg444His)" "" "0001013845" "00011892" "50" "131" "0" "131" "0" "c.131C>T" "r.(?)" "p.(Ala44Val)" "" "0001024747" "00011892" "70" "1594" "0" "1594" "0" "c.1594G>C" "r.(?)" "p.(Asp532His)" "" "0001033816" "00011892" "50" "2085" "0" "2085" "0" "c.2085delinsAA" "r.(?)" "p.(Val697Serfs*19)" "" "0001033817" "00011892" "50" "1619" "0" "1619" "0" "c.1619G>A" "r.(?)" "p.(Ser540Asn)" "" "0001033818" "00011892" "50" "1492" "0" "1492" "0" "c.1492C>T" "r.(?)" "p.(Leu498Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 36 "{{screeningid}}" "{{variantid}}" "0000181980" "0000405772" "0000181980" "0000405773" "0000181982" "0000405774" "0000181982" "0000405775" "0000181983" "0000405776" "0000181983" "0000405777" "0000182019" "0000405834" "0000294455" "0000651144" "0000294456" "0000651145" "0000453784" "0000988546" "0000453785" "0000988547" "0000453786" "0000988548" "0000453787" "0000988549" "0000453788" "0000988550" "0000453789" "0000988551" "0000453790" "0000988552" "0000453791" "0000988553" "0000453792" "0000988554" "0000453793" "0000988555" "0000453794" "0000988556" "0000453795" "0000988557" "0000453796" "0000988558" "0000455236" "0001007269" "0000455236" "0001007386" "0000455237" "0001007270" "0000455237" "0001007387" "0000455238" "0001007271" "0000455238" "0001007388" "0000455308" "0001007341" "0000455309" "0001007342" "0000455310" "0001007343" "0000455311" "0001007344" "0000455312" "0001007345" "0000455313" "0001007346" "0000455314" "0001007347" "0000455315" "0001007348"