### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MLYCD) # 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}}" "MLYCD" "malonyl-CoA decarboxylase" "16" "q24" "unknown" "NG_009079.1" "UD_132085273902" "" "https://www.LOVD.nl/MLYCD" "" "1" "7150" "23417" "606761" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/MLYCD_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-22 17:31:55" "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}}" "00013700" "MLYCD" "malonyl-CoA decarboxylase" "001" "NM_012213.2" "" "NP_036345.2" "" "" "" "-20" "2175" "1482" "83932730" "83949787" "" "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}}" "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" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "01905" "MLYCDD" "malonyl-CoA decarboxylase deficiency (MLYCDD)" "AR" "248360" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-04-23 09:32:47" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MLYCD" "00139" "MLYCD" "01905" ## Individuals ## Do not remove or alter this header ## ## Count = 46 "{{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}}" "00183402" "" "" "" "1" "" "02947" "{PMID:Giugliano 2018:30373198}" "" "M" "?" "" "" "0" "" "" "" "Patient XIV" "00275628" "" "" "" "2" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR61Pat1" "00275629" "" "" "00275628" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR61Pat2" "00291557" "" "" "" "187" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291558" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291559" "" "" "" "139" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304539" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304540" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00309853" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M009" "00315504" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "F" "" "Switzerland" "33y" "" "" "" "Europe" "SUDS112" "00362697" "" "" "" "1" "" "00006" "{PMID:MacPhee 1993:8259873}, {PMID:FitzPatrick 1999:10417274}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Scotland" "" "0" "" "" "" "Pat1" "00362698" "" "" "" "1" "" "00006" "{PMID:MacPhee 1993:8259873}, {PMID:FitzPatrick 1999:10417274}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Scotland" "" "0" "" "" "" "Pat2" "00362699" "" "" "" "1" "" "00006" "{PMID:Gao 1999:9869665}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "" "patient" "00362700" "" "" "" "1" "" "00006" "{PMID:Sacksteder 1999:10455107}" "" "" "no" "" "" "0" "" "" "" "MA002" "00362701" "" "" "" "2" "" "00006" "{PMID:Wightman 2003:12955715}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "San1/2" "00362702" "" "" "" "1" "" "00006" "{PMID:Wightman 2003:12955715}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "San3" "00362703" "" "" "" "1" "" "00006" "{PMID:Wightman 2003:12955715}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Spain" "" "0" "" "" "" "Rib1" "00362704" "" "" "" "1" "" "00006" "{PMID:Wightman 2003:12955715}" "" "M" "" "" "" "0" "" "" "" "Dou1" "00362705" "" "" "" "1" "" "00006" "{PMID:Wightman 2003:12955715}" "" "M" "" "Australia" "" "0" "" "" "" "Haa1" "00362706" "" "" "" "1" "" "00006" "{PMID:Matalon 1993:7609455}, {PMID:Wightman 2003:12955715}" "" "M" "" "United States" "" "0" "" "" "" "Mat1" "00362707" "" "" "" "1" "" "00006" "{PMID:Brown 1984:6145813}, {PMID:Wightman 2003:12955715}" "" "M" "" "Australia" "" "0" "" "" "" "Bro1" "00362708" "" "" "" "1" "" "00006" "{PMID:Yano 1997:9177981}, {PMID:Wightman 2003:12955715}" "" "M" "" "United States" "" "0" "" "" "" "Yan1" "00362709" "" "" "" "1" "" "00006" "{PMID:Wightman 2003:12955715}" "" "M" "" "" "" "0" "" "" "" "Kra1" "00362710" "" "" "" "1" "" "00006" "{PMID:Surendran 2001:11550227}" "" "" "" "United States" "" "0" "" "" "" "patient" "00362711" "" "" "" "1" "" "00006" "{PMID:Malvagia 2007:17535268}" "" "M" "no" "Italy" "" "0" "" "" "" "patient" "00362712" "" "" "" "1" "" "00006" "{PMID:Footitt 2010:20549361}" "" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "Asia" "patient" "00362713" "" "" "" "1" "" "00006" "{PMID:Chapel-Crespo 2019:31395333}" "" "M" "" "" "" "0" "" "" "white" "Pat1" "00362714" "" "" "" "1" "" "00006" "{PMID:Chapel-Crespo 2019:31395333}" "" "M" "" "Mexico" "" "0" "" "" "" "Pat2" "00362715" "" "" "" "1" "" "00006" "{PMID:Chapel-Crespo 2019:31395333}" "" "F" "" "Mexico" "" "0" "" "" "" "Pat3" "00362716" "" "" "" "1" "" "00006" "{PMID:Chapel-Crespo 2019:31395333}" "" "M" "" "" "" "0" "" "" "white" "Pat4" "00362717" "" "" "" "2" "" "00006" "{PMID:Chapel-Crespo 2019:31395333}" "family, 2 affected" "M" "" "Mexico" "" "0" "" "" "" "Pat5" "00362718" "" "" "" "1" "" "00006" "{PMID:Chapel-Crespo 2019:31395333}" "" "M" "" "United States" "" "0" "" "" "white;native American;Mexico" "Pat6" "00362719" "" "" "" "1" "" "00006" "{PMID:Chapel-Crespo 2019:31395333}" "" "M" "" "Nigeria" "" "0" "" "" "" "Pat7" "00362720" "" "" "" "1" "" "00006" "{PMID:Chapel-Crespo 2019:31395333}" "" "F" "yes" "" "" "0" "" "" "Middle Eastern" "Pat8" "00362721" "" "" "00362717" "1" "" "00006" "{PMID:Chapel-Crespo 2019:31395333}" "sib" "M" "" "Mexico" "" "0" "" "" "" "Pat9" "00362722" "" "" "" "1" "" "00006" "{PMID:Salomons 2007:17186413}" "" "M" "" "" "" "0" "" "" "" "Pat1" "00362723" "" "" "" "2" "" "00006" "{PMID:Salomons 2007:17186413}" "family, 2 affected" "M" "" "" "" "0" "" "" "" "Pat2" "00362724" "" "" "00362723" "1" "" "00006" "{PMID:Salomons 2007:17186413}" "sib" "M" "" "" "" "0" "" "" "" "Pat3" "00362725" "" "" "" "1" "" "00006" "{PMID:Salomons 2007:17186413}" "" "F" "yes" "" "" "0" "" "" "" "Pat4" "00362726" "" "" "" "1" "" "00006" "{PMID:Salomons 2007:17186413}" "" "M" "" "" "" "0" "" "" "" "Pat5" "00362727" "" "" "" "1" "" "00006" "{PMID:Salomons 2007:17186413}" "" "M" "" "" "" "0" "" "" "" "Pat6" "00362728" "" "" "" "1" "" "00006" "{PMID:Salomons 2007:17186413}" "" "F" "yes" "" "" "0" "" "" "" "Pat7" "00362729" "" "" "" "1" "" "00006" "{PMID:Salomons 2007:17186413}" "" "F" "" "" "" "0" "" "" "" "Pat8" "00362730" "" "" "" "1" "" "00006" "{PMID:Salomons 2007:17186413}" "" "" "" "" "" "0" "" "" "" "Pat9" "00390482" "" "" "" "1" "" "03696" "Snanoudj et al., submitted (2021)" "" "M" "yes" "Morocco" "" "0" "" "" "" "" "00452262" "" "" "" "2" "" "00006" "{PMID:Wang 2019:31737040}" "screening 401,660 newborns for inborn errors of metabolism" "" "" "China" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 46 "{{individualid}}" "{{diseaseid}}" "00183402" "00244" "00275628" "00139" "00275629" "00139" "00291557" "00198" "00291558" "00198" "00291559" "00198" "00304539" "00198" "00304540" "00198" "00309853" "01905" "00315504" "05166" "00362697" "01905" "00362698" "01905" "00362699" "01905" "00362700" "01905" "00362701" "01905" "00362702" "01905" "00362703" "01905" "00362704" "01905" "00362705" "01905" "00362706" "01905" "00362707" "01905" "00362708" "01905" "00362709" "01905" "00362710" "01905" "00362711" "01905" "00362712" "01905" "00362713" "01905" "00362714" "01905" "00362715" "01905" "00362716" "01905" "00362717" "01905" "00362718" "01905" "00362719" "01905" "00362720" "01905" "00362721" "01905" "00362722" "01905" "00362723" "01905" "00362724" "01905" "00362725" "01905" "00362726" "01905" "00362727" "01905" "00362728" "01905" "00362729" "01905" "00362730" "01905" "00390482" "01905" "00452262" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00244, 01905, 05166 ## Count = 39 "{{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}}" "0000171332" "00244" "00183402" "00006" "Unknown" "" "onset juvenile, shoulder and pelvic girdle weakness, severe proximal muscle weakness, wheelchair bound, elevated CPK (3x), EMG myopathic, biopsy dystrophic features, mild respiratory\r\ninsufficiency" "" "" "shoulder and pelvic girdle weakness" "" "" "" "" "" "" "myopathy" "" "0000210239" "00139" "00275628" "00006" "Familial, autosomal recessive" "20y" "OFC 51cm; IQ 45, moderate intellectual disability (HP:0002342)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210240" "00139" "00275629" "00006" "Familial, autosomal recessive" "22y" "OFC 54cm; IQ 50, moderate intellectual disability (HP:0002342); aggressive behavior" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000235168" "01905" "00309853" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "malonyl-coA decarboxylase deficiency" "" "0000258068" "01905" "00362697" "00006" "Familial, autosomal recessive" "03y11m" "see paper; ..., delayed neurological development, seizures, no short stature, no acidosis, no hypoglycemia, no cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000258069" "01905" "00362698" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., delayed neurological development, seizures, no short stature, no acidosis, hypoglycemia, no cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000258070" "01905" "00362699" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000258071" "01905" "00362701" "00006" "Familial, autosomal recessive" "" "see paper; ..., cardiomyopathy (2/2), acidosis (HACMA), hypglycaemia (HACMA)" "" "" "" "" "" "" "" "" "" "" "" "0000258072" "01905" "00362702" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., developmental delay, acidosis" "" "" "" "" "" "" "" "" "" "" "" "0000258073" "01905" "00362703" "00006" "Familial, autosomal recessive" "00y21m" "see paper; ..., developmental delay, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000258074" "01905" "00362704" "00006" "Familial, autosomal recessive" "00y00m06d" "see paper; ..., acidosis" "" "" "" "" "" "" "" "" "" "" "" "0000258075" "01905" "00362705" "00006" "Familial, autosomal recessive" "" "see paper; ..., developmental delay, acidosis, hypoglycaemia" "" "" "" "" "" "" "" "" "" "" "" "0000258076" "01905" "00362706" "00006" "Familial, autosomal recessive" "" "see paper; ..., developmental delay, seizures, cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000258077" "01905" "00362707" "00006" "Familial, autosomal recessive" "" "see paper; ..., developmental delay, short stature, acidosis," "" "" "" "" "" "" "" "" "" "" "" "0000258078" "01905" "00362708" "00006" "Familial, autosomal recessive" "" "see paper; ..., developmental delay, seizures, acidosis, hypoglycaemia, cardiomyopathy" "" "" "" "" "" "" "" "" "" "" "" "0000258079" "01905" "00362709" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000258080" "01905" "00362710" "00006" "Unknown" "" "mild" "" "" "" "" "" "" "" "" "" "" "" "0000258081" "01905" "00362711" "00006" "Unknown" "00y04m" "see paper; ..., 4m15-died suddenly" "" "" "" "" "" "" "" "" "" "" "" "0000258082" "01905" "00362712" "00006" "Familial, autosomal recessive" "00y55m" "see paper; ..." "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000258083" "01905" "00362713" "00006" "Familial, autosomal recessive" "" "see paper; ..., respiratory distress, metabolic acidosis, hypoglycemia, hypotonia, seizures" "" "8d" "" "" "" "" "" "" "" "MLYCDD" "" "0000258084" "01905" "00362714" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "8d" "" "" "" "" "" "" "" "MLYCDD" "" "0000258085" "01905" "00362715" "00006" "Familial, autosomal recessive" "" "see paper; ..., respiratory distress, hypotonia" "" "6d" "" "" "" "" "" "" "" "MLYCDD" "" "0000258086" "01905" "00362716" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "8d" "" "" "" "" "" "" "" "MLYCDD" "" "0000258087" "01905" "00362717" "00006" "Familial, autosomal recessive" "" "see paper; ..., respiratory distress, hypotonia, metabolic acidosis" "" "6m" "" "" "" "" "" "" "" "MLYCDD" "" "0000258088" "01905" "00362718" "00006" "Familial, autosomal recessive" "" "see paper; ..., hypoglycemia, metabolic acidosis" "" "21d" "" "" "" "" "" "" "" "MLYCDD" "" "0000258089" "01905" "00362719" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "5d" "" "" "" "" "" "" "" "MLYCDD" "" "0000258090" "01905" "00362720" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "5d" "" "" "" "" "" "" "" "MLYCDD" "" "0000258091" "01905" "00362721" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "17d" "" "" "" "" "" "" "" "MLYCDD" "" "0000258092" "01905" "00362722" "00006" "Familial, autosomal recessive" "13y" "see paper; ...," "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000258093" "01905" "00362723" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000258094" "01905" "00362724" "00006" "Familial, autosomal recessive" "10y" "see paper; ...," "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000258095" "01905" "00362725" "00006" "Familial, autosomal recessive" "18m" "see paper; ...," "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000258096" "01905" "00362726" "00006" "Familial, autosomal recessive" "6m" "see paper; ...," "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000258097" "01905" "00362727" "00006" "Familial, autosomal recessive" "20m" "see paper; ...," "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000258098" "01905" "00362728" "00006" "Familial, autosomal recessive" "2y" "see paper; ...," "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000258099" "01905" "00362729" "00006" "Familial, autosomal recessive" "6m" "see paper; ...," "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000258100" "01905" "00362730" "00006" "Familial, autosomal recessive" "" "see paper; ...," "" "" "" "" "" "" "" "" "" "MLYCDD" "" "0000322117" "05166" "00315504" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "" "0000340865" "00198" "00452262" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "MCDD" "malonic acidemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 46 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000184370" "00183402" "1" "02947" "02947" "2018-10-25 15:21:39" "" "" "arrayCGH" "DNA" "" "" "0000276786" "00275628" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276787" "00275629" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000292725" "00291557" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292726" "00291558" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292727" "00291559" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305668" "00304539" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305669" "00304540" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000310997" "00309853" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316683" "00315504" "1" "01602" "01602" "2020-10-27 16:39:53" "01602" "2023-02-15 09:40:45" "SEQ-NG" "DNA" "" "" "0000363925" "00362697" "1" "00006" "00006" "2021-04-22 18:46:29" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000363926" "00362698" "1" "00006" "00006" "2021-04-22 18:53:32" "" "" "RT-PCR;SEQ;SSCA" "DNA;RNA" "" "" "0000363927" "00362699" "1" "00006" "00006" "2021-04-22 19:03:02" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363928" "00362700" "1" "00006" "00006" "2021-04-22 19:13:50" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363929" "00362701" "1" "00006" "00006" "2021-04-22 19:25:40" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363930" "00362702" "1" "00006" "00006" "2021-04-22 19:30:37" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363931" "00362703" "1" "00006" "00006" "2021-04-22 19:33:00" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363932" "00362704" "1" "00006" "00006" "2021-04-22 19:37:53" "00006" "2021-04-22 19:39:23" "SEQ" "DNA" "" "" "0000363933" "00362705" "1" "00006" "00006" "2021-04-22 19:43:27" "00006" "2021-04-22 19:44:57" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363934" "00362706" "1" "00006" "00006" "2021-04-22 19:46:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363935" "00362707" "1" "00006" "00006" "2021-04-22 19:48:09" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363936" "00362708" "1" "00006" "00006" "2021-04-22 19:50:06" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363937" "00362709" "1" "00006" "00006" "2021-04-22 19:52:57" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363938" "00362710" "1" "00006" "00006" "2021-04-23 08:15:28" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000363939" "00362711" "1" "00006" "00006" "2021-04-23 09:35:27" "" "" "arraySNP;RT-PCR;SEQ" "DNA;RNA" "" "" "0000363940" "00362712" "1" "00006" "00006" "2021-04-23 09:43:23" "" "" "SEQ" "DNA" "" "" "0000363941" "00362713" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000363942" "00362714" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363943" "00362715" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000363944" "00362716" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363945" "00362717" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000363946" "00362718" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363947" "00362719" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363948" "00362720" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363949" "00362721" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000363950" "00362722" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000363951" "00362723" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363952" "00362724" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363953" "00362725" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363954" "00362726" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000363955" "00362727" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363956" "00362728" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363957" "00362729" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "SEQ" "DNA" "" "" "0000363958" "00362730" "1" "00006" "00006" "2021-04-23 09:47:05" "" "" "MLPA;SEQ" "DNA" "" "" "0000391723" "00390482" "1" "03696" "03696" "2021-11-10 16:07:45" "" "" "SEQ" "DNA" "blood" "" "0000453864" "00452262" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{geneid}}" "0000276786" "GAN" "0000276786" "MLYCD" "0000276787" "GAN" "0000276787" "MLYCD" "0000310997" "MLYCD" "0000363925" "MLYCD" "0000363926" "MLYCD" "0000363927" "MLYCD" "0000363928" "MLYCD" "0000363929" "MLYCD" "0000363930" "MLYCD" "0000363931" "MLYCD" "0000363932" "MLYCD" "0000363933" "MLYCD" "0000363934" "MLYCD" "0000363935" "MLYCD" "0000363936" "MLYCD" "0000363937" "MLYCD" "0000363938" "MLYCD" "0000363939" "MLYCD" "0000363940" "MLYCD" "0000363941" "MLYCD" "0000363942" "MLYCD" "0000363943" "MLYCD" "0000363944" "MLYCD" "0000363945" "MLYCD" "0000363946" "MLYCD" "0000363947" "MLYCD" "0000363948" "MLYCD" "0000363949" "MLYCD" "0000363950" "MLYCD" "0000363951" "MLYCD" "0000363952" "MLYCD" "0000363953" "MLYCD" "0000363954" "MLYCD" "0000363955" "MLYCD" "0000363956" "MLYCD" "0000363957" "MLYCD" "0000363958" "MLYCD" "0000391723" "MLYCD" "0000453864" "MLYCD" ## 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 = 99 "{{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}}" "0000247374" "0" "10" "16" "83932780" "83932780" "subst" "0.0232861" "02330" "MLYCD_000002" "g.83932780A>G" "" "" "" "MLYCD(NM_012213.2):c.31A>G (p.(Arg11Gly)), MLYCD(NM_012213.3):c.31A>G (p.R11G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83899175A>G" "" "benign" "" "0000247385" "0" "10" "16" "83941719" "83941719" "subst" "0.064231" "02330" "MLYCD_000009" "g.83941719A>T" "" "" "" "MLYCD(NM_012213.3):c.642-12A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83908114A>T" "" "benign" "" "0000279829" "0" "30" "16" "83948656" "83948656" "subst" "0.00118583" "02330" "MLYCD_000015" "g.83948656G>T" "" "" "" "MLYCD(NM_012213.3):c.1044G>T (p.E348D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83915051G>T" "" "likely benign" "" "0000279830" "0" "30" "16" "83948787" "83948787" "subst" "7.71793E-5" "02330" "MLYCD_000016" "g.83948787G>A" "" "" "" "MLYCD(NM_012213.3):c.1175G>A (p.R392Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83915182G>A" "" "likely benign" "" "0000279831" "0" "30" "16" "83932955" "83932955" "subst" "0.00373768" "02330" "MLYCD_000003" "g.83932955C>T" "" "" "" "MLYCD(NM_012213.2):c.206C>T (p.(Ala69Val)), MLYCD(NM_012213.3):c.206C>T (p.A69V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83899350C>T" "" "likely benign" "" "0000279832" "0" "10" "16" "83933296" "83933296" "subst" "0.993308" "02330" "MLYCD_000006" "g.83933296T>C" "" "" "" "MLYCD(NM_012213.3):c.528+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83899691T>C" "" "benign" "" "0000279833" "0" "10" "16" "83940584" "83940584" "subst" "0.0327905" "02330" "MLYCD_000007" "g.83940584C>T" "" "" "" "MLYCD(NM_012213.3):c.529-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83906979C>T" "" "benign" "" "0000279834" "0" "10" "16" "83941726" "83941726" "subst" "0.0643696" "02330" "MLYCD_000010" "g.83941726C>T" "" "" "" "MLYCD(NM_012213.3):c.642-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83908121C>T" "" "benign" "" "0000279835" "0" "10" "16" "83941821" "83941821" "subst" "0.0578908" "02330" "MLYCD_000011" "g.83941821G>A" "" "" "" "MLYCD(NM_012213.3):c.732G>A (p.S244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83908216G>A" "" "benign" "" "0000279836" "0" "10" "16" "83941865" "83941865" "subst" "0.00731854" "02330" "MLYCD_000012" "g.83941865G>C" "" "" "" "MLYCD(NM_012213.3):c.776G>C (p.G259A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83908260G>C" "" "benign" "" "0000282547" "0" "10" "16" "83933296" "83933296" "subst" "0.993308" "02325" "MLYCD_000006" "g.83933296T>C" "" "" "" "MLYCD(NM_012213.3):c.528+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83899691T>C" "" "benign" "" "0000282548" "0" "10" "16" "83940604" "83940604" "subst" "0.00121426" "02325" "MLYCD_000008" "g.83940604G>A" "" "" "" "MLYCD(NM_012213.2):c.541G>A (p.(Val181Met)), MLYCD(NM_012213.3):c.541G>A (p.V181M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83906999G>A" "" "benign" "" "0000282549" "0" "10" "16" "83941726" "83941726" "subst" "0.0643696" "02325" "MLYCD_000010" "g.83941726C>T" "" "" "" "MLYCD(NM_012213.3):c.642-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83908121C>T" "" "benign" "" "0000286614" "0" "10" "16" "83941726" "83941726" "subst" "0.0643696" "02326" "MLYCD_000010" "g.83941726C>T" "" "" "" "MLYCD(NM_012213.3):c.642-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83908121C>T" "" "benign" "" "0000324939" "0" "50" "16" "83932762" "83932762" "subst" "0" "01804" "MLYCD_000001" "g.83932762G>A" "" "" "" "MLYCD(NM_012213.2):c.13G>A (p.(Gly5Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83899157G>A" "" "VUS" "" "0000324940" "0" "30" "16" "83932780" "83932780" "subst" "0.0232861" "01804" "MLYCD_000002" "g.83932780A>G" "" "" "" "MLYCD(NM_012213.2):c.31A>G (p.(Arg11Gly)), MLYCD(NM_012213.3):c.31A>G (p.R11G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83899175A>G" "" "likely benign" "" "0000324941" "0" "50" "16" "83932955" "83932955" "subst" "0.00373768" "01804" "MLYCD_000003" "g.83932955C>T" "" "" "" "MLYCD(NM_012213.2):c.206C>T (p.(Ala69Val)), MLYCD(NM_012213.3):c.206C>T (p.A69V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83899350C>T" "" "VUS" "" "0000324942" "0" "50" "16" "83933045" "83933045" "subst" "0" "01804" "MLYCD_000004" "g.83933045A>G" "" "" "" "MLYCD(NM_012213.2):c.296A>G (p.(His99Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83899440A>G" "" "VUS" "" "0000324943" "0" "50" "16" "83933143" "83933143" "subst" "9.61317E-6" "01804" "MLYCD_000005" "g.83933143G>A" "" "" "" "MLYCD(NM_012213.2):c.394G>A (p.(Ala132Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83899538G>A" "" "VUS" "" "0000324944" "0" "50" "16" "83940604" "83940604" "subst" "0.00121426" "01804" "MLYCD_000008" "g.83940604G>A" "" "" "" "MLYCD(NM_012213.2):c.541G>A (p.(Val181Met)), MLYCD(NM_012213.3):c.541G>A (p.V181M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83906999G>A" "" "VUS" "" "0000324946" "0" "50" "16" "83945920" "83945920" "subst" "0" "01804" "MLYCD_000014" "g.83945920A>G" "" "" "" "MLYCD(NM_012213.3):c.896A>G (p.(Gln299Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.83912315A>G" "" "VUS" "" "0000408415" "0" "70" "16" "83342046" "83949780" "del" "0" "02947" "CDH13_000005" "g.(83300000_83342046)_(83949780_84000000)del" "" "{PMID:Giugliano 2018:30373198}" "" "g.83342046_83949780del" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000559341" "0" "30" "16" "83932955" "83932955" "subst" "0.00373768" "02326" "MLYCD_000003" "g.83932955C>T" "" "" "" "MLYCD(NM_012213.2):c.206C>T (p.(Ala69Val)), MLYCD(NM_012213.3):c.206C>T (p.A69V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83899350C>T" "" "likely benign" "" "0000559342" "0" "10" "16" "83933193" "83933193" "subst" "0.0133282" "02330" "MLYCD_000018" "g.83933193C>T" "" "" "" "MLYCD(NM_012213.3):c.444C>T (p.D148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83899588C>T" "" "benign" "" "0000559343" "0" "30" "16" "83933230" "83933230" "subst" "0" "02330" "MLYCD_000019" "g.83933230C>T" "" "" "" "MLYCD(NM_012213.3):c.481C>T (p.L161=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83899625C>T" "" "likely benign" "" "0000559344" "0" "10" "16" "83945807" "83945807" "subst" "0.00304172" "02330" "MLYCD_000020" "g.83945807C>T" "" "" "" "MLYCD(NM_012213.3):c.799-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83912202C>T" "" "benign" "" "0000559345" "0" "30" "16" "83945807" "83945807" "subst" "0.00304172" "02325" "MLYCD_000020" "g.83945807C>T" "" "" "" "MLYCD(NM_012213.3):c.799-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83912202C>T" "" "likely benign" "" "0000559346" "0" "70" "16" "83945964" "83945964" "subst" "0" "01804" "MLYCD_000021" "g.83945964G>T" "" "" "" "MLYCD(NM_012213.3):c.940G>T (p.(Glu314*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83912359G>T" "" "likely pathogenic" "" "0000559347" "0" "30" "16" "83948686" "83948686" "subst" "0.000885294" "02330" "MLYCD_000022" "g.83948686G>A" "" "" "" "MLYCD(NM_012213.3):c.1074G>A (p.S358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83915081G>A" "" "likely benign" "" "0000559349" "0" "50" "16" "83949045" "83949045" "subst" "7.37917E-5" "01804" "MLYCD_000024" "g.83949045A>G" "" "" "" "MLYCD(NM_012213.2):c.1433A>G (p.(Glu478Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83915440A>G" "" "VUS" "" "0000616166" "0" "30" "16" "83932997" "83932997" "subst" "0" "02327" "MLYCD_000025" "g.83932997A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83899392A>G" "" "likely benign" "" "0000616167" "0" "30" "16" "83945803" "83945803" "subst" "0" "02327" "MLYCD_000026" "g.83945803C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83912198C>T" "" "likely benign" "" "0000616168" "0" "50" "16" "83948600" "83948600" "subst" "0" "02327" "MLYCD_000027" "g.83948600C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83914995C>G" "" "VUS" "" "0000616169" "0" "30" "16" "83948854" "83948854" "subst" "1.62819E-5" "02327" "MLYCD_000028" "g.83948854C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.83915249C>T" "" "likely benign" "" "0000630976" "3" "90" "16" "83948671" "83948671" "dup" "0" "00006" "MLYCD_000029" "g.83948671dup" "" "{PMID:Santos-Cortez 2018:30167849}" "" "c.1057_1058insA" "" "Germline" "" "" "0" "" "" "g.83915066dup" "" "pathogenic (recessive)" "" "0000630977" "3" "90" "16" "83948671" "83948671" "dup" "0" "00006" "MLYCD_000029" "g.83948671dup" "" "{PMID:Santos-Cortez 2018:30167849}" "" "c.1057_1058insA" "" "Germline" "" "" "0" "" "" "g.83915066dup" "" "pathogenic (recessive)" "" "0000649414" "1" "30" "16" "83940584" "83940584" "subst" "0.0327905" "03575" "MLYCD_000007" "g.83940584C>T" "187/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "187 heterozygous; {DB:CLININrs3815806}" "Germline" "" "rs3815806" "0" "" "" "g.83906979C>T" "" "likely benign" "" "0000649415" "1" "10" "16" "83940604" "83940604" "subst" "0.00121426" "03575" "MLYCD_000008" "g.83940604G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs147617160}" "Germline" "" "rs147617160" "0" "" "" "g.83906999G>A" "" "benign" "" "0000649416" "1" "30" "16" "83941726" "83941726" "subst" "0.0643696" "03575" "MLYCD_000010" "g.83941726C>T" "139/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "139 heterozygous; {DB:CLININrs2278037}" "Germline" "" "rs2278037" "0" "" "" "g.83908121C>T" "" "likely benign" "" "0000669356" "3" "30" "16" "83940584" "83940584" "subst" "0.0327905" "03575" "MLYCD_000007" "g.83940584C>T" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 homozygous; {DB:CLININrs3815806}" "Germline" "" "rs3815806" "0" "" "" "g.83906979C>T" "" "likely benign" "" "0000669357" "3" "30" "16" "83941726" "83941726" "subst" "0.0643696" "03575" "MLYCD_000010" "g.83941726C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs2278037}" "Germline" "" "rs2278037" "0" "" "" "g.83908121C>T" "" "likely benign" "" "0000680679" "0" "50" "16" "83941774" "83941774" "subst" "0" "01804" "MLYCD_000030" "g.83941774C>T" "" "" "" "MLYCD(NM_012213.2):c.685C>T (p.(Arg229Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000686147" "3" "50" "16" "83948625" "83948625" "subst" "4.06101E-6" "00006" "MLYCD_000031" "g.83948625T>C" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000698845" "0" "70" "16" "83948685" "83948685" "subst" "0" "01602" "MLYCD_000032" "g.83948685C>A" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725996" "0" "30" "16" "83932884" "83932884" "subst" "0.000201633" "01943" "MLYCD_000033" "g.83932884C>T" "" "" "" "MLYCD(NM_012213.2):c.135C>T (p.R45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725997" "0" "30" "16" "83948710" "83948710" "subst" "0.00047107" "01943" "MLYCD_000034" "g.83948710C>T" "" "" "" "MLYCD(NM_012213.2):c.1098C>T (p.I366=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725998" "0" "30" "16" "83948848" "83948848" "subst" "0.000915594" "01943" "MLYCD_000035" "g.83948848C>T" "" "" "" "MLYCD(NM_012213.2):c.1236C>T (p.R412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725999" "0" "30" "16" "83949032" "83949032" "subst" "6.13096E-5" "01943" "MLYCD_000036" "g.83949032A>G" "" "" "" "MLYCD(NM_012213.2):c.1420A>G (p.I474V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000764629" "3" "90" "16" "83948547" "83948547" "subst" "4.0621E-6" "00006" "MLYCD_000037" "g.83948547A>G" "" "{PMID:FitzPatrick 1999:10417274}" "" "" "" "Germline" "" "" "0" "" "" "g.83914942A>G" "" "pathogenic (recessive)" "" "0000764630" "3" "90" "16" "83940623" "83940623" "subst" "1.2183E-5" "00006" "MLYCD_000038" "g.83940623C>G" "" "{PMID:FitzPatrick 1999:10417274}" "" "442C>G" "" "Germline" "" "rs104894528" "0" "" "" "g.83907018C>G" "" "pathogenic (recessive)" "" "0000764631" "3" "90" "16" "83940703" "83940706" "del" "0" "00006" "MLYCD_000039" "g.83940703_83940706del" "" "{PMID:Gao 1999:9869665}" "" "638–641delGTGA" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764632" "1" "90" "16" "83948676" "83948677" "del" "0" "00006" "MLYCD_000040" "g.83948676_83948677del" "" "{PMID:Sacksteder 1999:10455107}" "" "947–948delTT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764633" "1" "90" "16" "83932808" "83932808" "dup" "0" "00006" "MLYCD_000041" "g.83932808dup" "" "{PMID:Wightman 2003:12955715}" "" "59dupC" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764634" "2" "90" "16" "83940697" "83940697" "dup" "0" "00006" "MLYCD_000042" "g.83940697dup" "" "{PMID:Wightman 2003:12955715}" "" "634dupA" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764635" "3" "90" "16" "83948763" "83948771" "del" "0" "00006" "MLYCD_000043" "g.83948763_83948771del" "" "{PMID:Wightman 2003:12955715}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764636" "1" "90" "16" "83932955" "83932955" "subst" "0.00373768" "00006" "MLYCD_000003" "g.83932955C>T" "" "{PMID:Wightman 2003:12955715}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764637" "1" "90" "16" "83933231" "83933231" "subst" "1.86451E-5" "00006" "MLYCD_000044" "g.83933231T>C" "" "{PMID:Wightman 2003:12955715}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764638" "3" "90" "16" "83933224" "83933224" "del" "0" "00006" "MLYCD_000045" "g.83933224del" "" "{PMID:Wightman 2003:12955715}" "" "475delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764639" "3" "90" "16" "83932868" "83932868" "subst" "0" "00006" "MLYCD_000046" "g.83932868T>C" "" "{PMID:Wightman 2003:12955715}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764640" "3" "90" "16" "83932757" "83932757" "subst" "0" "00006" "MLYCD_000047" "g.83932757G>A" "" "{PMID:Wightman 2003:12955715}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764641" "3" "90" "16" "83932833" "83932857" "del" "0" "00006" "MLYCD_000048" "g.83932833_83932857del" "" "{PMID:Wightman 2003:12955715}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764642" "3" "90" "16" "83933142" "83933142" "subst" "0" "00006" "MLYCD_000049" "g.83933142C>G" "" "{PMID:Wightman 2003:12955715}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764643" "0" "90" "16" "83941726" "83941726" "subst" "0.0643696" "00006" "MLYCD_000010" "g.83941726C>T" "" "{PMID:Surendran 2001:11550227}" "" "IVS2-5C>T" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000764644" "21" "90" "16" "83941861" "83941864" "del" "0" "00006" "MLYCD_000050" "g.83941861_83941864del" "" "{PMID:Malvagia 2007:17535268}" "" "772–775delACTG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764645" "21" "90" "16" "83941861" "83941864" "del" "0" "00006" "MLYCD_000050" "g.83941861_83941864del" "" "{PMID:Malvagia 2007:17535268}" "" "772–775delACTG" "" "Uniparental disomy, maternal allele" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764646" "3" "90" "16" "83932946" "83932946" "del" "0" "00006" "MLYCD_000051" "g.83932946del" "" "{PMID:Footitt 2010:20549361}" "" "197delG" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000764647" "3" "90" "16" "83932730" "83932750" "del" "0" "00006" "MLYCD_000052" "g.(?_83932730)_(83932750_83933277)del" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "del ex1 and 5′UTR" "" "Germline" "" "" "0" "" "" "g.(?_83899125)_(83899145_83899672)del" "" "pathogenic (recessive)" "" "0000764648" "3" "90" "16" "83940703" "83940706" "del" "0" "00006" "MLYCD_000039" "g.83940703_83940706del" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "" "" "Germline" "" "" "0" "" "" "g.83907098_83907101del" "" "pathogenic (recessive)" "" "0000764649" "3" "90" "16" "83948560" "83949787" "del" "0" "00006" "MLYCD_000062" "g.(83945973_83948560)_(83949787_?)del" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "del ex5" "" "Germline" "" "" "0" "" "" "g.(83912368_83914955)_(g.83916182_?)del" "" "pathogenic (recessive)" "" "0000764650" "1" "70" "16" "83933114" "83933114" "subst" "0" "00006" "MLYCD_000054" "g.83933114T>C" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "" "" "Germline" "" "" "0" "" "" "g.83899509T>C" "" "likely pathogenic (recessive)" "" "0000764651" "3" "90" "16" "83948560" "83949787" "del" "0" "00006" "MLYCD_000062" "g.(83945973_83948560)_(83949787_?)del" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "del ex5" "" "Germline" "" "" "0" "" "" "g.(83912368_83914955)_(g.83916182_?)del" "" "pathogenic (recessive)" "" "0000764652" "3" "70" "16" "83940708" "83940711" "del" "0" "00006" "MLYCD_000056" "g.83940708_83940711del" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "" "" "Germline" "" "" "0" "" "" "g.83907103_83907106del" "" "likely pathogenic (recessive)" "" "0000764653" "1" "90" "16" "83932771" "83932783" "dup" "0" "00006" "MLYCD_000053" "g.83932771_83932783dup" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "c.23_24ins13" "" "Germline" "" "" "0" "" "" "g.83899166_83899178dup" "" "pathogenic (recessive)" "" "0000764654" "3" "70" "16" "83945953" "83945953" "subst" "1.62466E-5" "00006" "MLYCD_000061" "g.83945953G>C" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "" "" "Germline" "" "" "0" "" "" "g.83912348G>C" "" "likely pathogenic (recessive)" "" "0000764655" "3" "90" "16" "83948560" "83949787" "del" "0" "00006" "MLYCD_000062" "g.(83945973_83948560)_(83949787_?)del" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "del ex5" "" "Germline" "" "" "0" "" "" "g.(83912368_83914955)_(g.83916182_?)del" "" "pathogenic (recessive)" "" "0000764656" "2" "90" "16" "83948764" "83948764" "subst" "0" "00006" "MLYCD_000063" "g.83948764G>T" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "" "" "Germline" "" "" "0" "" "" "g.83915159G>T" "" "pathogenic (recessive)" "" "0000764657" "2" "70" "16" "83945820" "83945820" "subst" "0" "00006" "MLYCD_000059" "g.83945820C>G" "" "{PMID:Chapel-Crespo 2019:31395333}" "" "" "" "Germline" "" "" "0" "" "" "g.83912215C>G" "" "likely pathogenic (recessive)" "" "0000764658" "11" "90" "16" "83940623" "83940623" "subst" "1.2183E-5" "00006" "MLYCD_000038" "g.83940623C>G" "" "{PMID:Salomons 2007:17186413}" "" "" "" "Germline" "" "" "0" "" "" "g.83907018C>G" "" "pathogenic (recessive)" "" "0000764659" "3" "90" "16" "83941885" "83941885" "subst" "0" "00006" "MLYCD_000057" "g.83941885C>T" "" "{PMID:Salomons 2007:17186413}" "" "" "" "Germline" "" "" "0" "" "" "g.83908280C>T" "" "pathogenic (recessive)" "" "0000764660" "3" "90" "16" "83941885" "83941885" "subst" "0" "00006" "MLYCD_000057" "g.83941885C>T" "" "{PMID:Salomons 2007:17186413}" "" "" "" "Germline" "" "" "0" "" "" "g.83908280C>T" "" "pathogenic (recessive)" "" "0000764661" "3" "90" "16" "83933230" "83933230" "del" "0" "00006" "MLYCD_000055" "g.83933230del" "" "{PMID:Salomons 2007:17186413}" "" "c481delC" "" "Germline" "" "" "0" "" "" "g.83899625del" "" "pathogenic (recessive)" "" "0000764662" "3" "90" "16" "83932730" "83932750" "del" "0" "00006" "MLYCD_000052" "g.(?_83932730)_(83932750_83933277)del" "" "{PMID:Salomons 2007:17186413}" "" "5′UTRdel" "" "Germline" "" "" "0" "" "" "g.(?_83899125)_(83899145_83899672)del" "" "pathogenic (recessive)" "" "0000764663" "1" "70" "16" "83948931" "83948931" "subst" "0" "00006" "MLYCD_000064" "g.83948931G>T" "" "{PMID:Salomons 2007:17186413}" "" "" "" "Germline" "" "" "0" "" "" "g.83915326G>T" "" "likely pathogenic (recessive)" "" "0000764664" "3" "90" "16" "83948547" "83948547" "subst" "4.0621E-6" "00006" "MLYCD_000037" "g.83948547A>G" "" "{PMID:Salomons 2007:17186413}" "" "" "" "Germline" "" "" "0" "" "" "g.83914942A>G" "" "pathogenic (recessive)" "" "0000764665" "1" "70" "16" "83945923" "83945923" "subst" "4.06138E-6" "00006" "MLYCD_000060" "g.83945923G>T" "" "{PMID:Salomons 2007:17186413}" "" "" "" "Germline" "" "" "0" "" "" "g.83912318G>T" "" "likely pathogenic (recessive)" "" "0000764666" "3" "90" "16" "83944140" "83947268" "del" "0" "00006" "MLYCD_000058" "g.83944140_83947268del" "" "{PMID:Salomons 2007:17186413}" "" "799-1683_949-1293del3128" "" "Germline" "" "" "0" "" "" "g.83910535_83913663del" "" "pathogenic (recessive)" "" "0000764667" "21" "90" "16" "83932730" "83949787" "del" "0" "00006" "CDH13_000005" "g.(?_83932730)_(83949787_?)del" "" "{PMID:Salomons 2007:17186413}" "" "del complete gene" "" "Germline" "" "" "0" "" "" "g.(?_83899125)_(83916182_?)del" "" "pathogenic (recessive)" "" "0000764668" "0" "70" "16" "83948979" "83948979" "subst" "0" "00006" "MLYCD_000065" "g.83948979A>C" "" "{PMID:Salomons 2007:17186413}" "" "" "" "Germline" "" "" "0" "" "" "g.83915374A>C" "" "likely pathogenic (recessive)" "" "0000764669" "0" "70" "16" "83949042" "83949042" "subst" "0" "00006" "MLYCD_000066" "g.83949042C>T" "" "{PMID:Salomons 2007:17186413}" "" "" "" "Germline" "" "" "0" "" "" "g.83915437C>T" "" "likely pathogenic (recessive)" "" "0000807621" "0" "30" "16" "83941858" "83941858" "subst" "0" "01943" "MLYCD_000067" "g.83941858C>T" "" "" "" "MLYCD(NM_012213.2):c.769C>T (p.L257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821649" "3" "70" "16" "83933095" "83933095" "subst" "0" "03696" "MLYCD_000068" "g.83933095C>T" "" "Snanoudj et al., submitted (2021)" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000864953" "0" "90" "16" "83932771" "83932783" "del" "0" "01943" "MLYCD_000069" "g.83932771_83932783del" "" "" "" "MLYCD(NM_012213.2):c.22_34delTTGACGGCCAGGC (p.L8Vfs*61)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982109" "0" "50" "16" "83933131" "83933131" "subst" "0" "01804" "MLYCD_000070" "g.83933131C>T" "" "" "" "MLYCD(NM_012213.3):c.382C>T (p.(Arg128Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982110" "0" "30" "16" "83940584" "83940584" "subst" "0.0327905" "01804" "MLYCD_000007" "g.83940584C>T" "" "" "" "MLYCD(NM_012213.3):c.529-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982111" "0" "50" "16" "83941818" "83941820" "dup" "0" "01804" "MLYCD_000071" "g.83941818_83941820dup" "" "" "" "MLYCD(NM_012213.3):c.729_731dup (p.(Ser244dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982112" "0" "50" "16" "83948745" "83948745" "subst" "4.46704E-5" "01804" "MLYCD_000072" "g.83948745T>A" "" "" "" "MLYCD(NM_012213.3):c.1133T>A (p.(Leu378His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982113" "0" "50" "16" "83949084" "83949084" "subst" "0.000112685" "01804" "MLYCD_000073" "g.83949084G>T" "" "" "" "MLYCD(NM_012213.3):c.1472G>T (p.(Ser491Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000988626" "3" "50" "16" "83933231" "83933231" "subst" "1.86451E-5" "00006" "MLYCD_000044" "g.83933231T>C" "2/2 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.83899626T>C" "" "VUS" "" "0001041386" "0" "50" "16" "83948970" "83948970" "subst" "1.22237E-5" "01804" "MLYCD_000074" "g.83948970A>G" "" "" "" "MLYCD(NM_012213.3):c.1358A>G (p.(Asn453Ser))" "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 MLYCD ## Count = 99 "{{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}}" "0000247374" "00013700" "10" "31" "0" "31" "0" "c.31A>G" "r.(?)" "p.(Arg11Gly)" "" "0000247385" "00013700" "10" "642" "-12" "642" "-12" "c.642-12A>T" "r.(=)" "p.(=)" "" "0000279829" "00013700" "30" "1044" "0" "1044" "0" "c.1044G>T" "r.(?)" "p.(Glu348Asp)" "" "0000279830" "00013700" "30" "1175" "0" "1175" "0" "c.1175G>A" "r.(?)" "p.(Arg392Gln)" "" "0000279831" "00013700" "30" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ala69Val)" "" "0000279832" "00013700" "10" "528" "19" "528" "19" "c.528+19T>C" "r.(=)" "p.(=)" "" "0000279833" "00013700" "10" "529" "-8" "529" "-8" "c.529-8C>T" "r.(=)" "p.(=)" "" "0000279834" "00013700" "10" "642" "-5" "642" "-5" "c.642-5C>T" "r.spl?" "p.?" "" "0000279835" "00013700" "10" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Ser244=)" "" "0000279836" "00013700" "10" "776" "0" "776" "0" "c.776G>C" "r.(?)" "p.(Gly259Ala)" "" "0000282547" "00013700" "10" "528" "19" "528" "19" "c.528+19T>C" "r.(=)" "p.(=)" "" "0000282548" "00013700" "10" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Val181Met)" "" "0000282549" "00013700" "10" "642" "-5" "642" "-5" "c.642-5C>T" "r.spl?" "p.?" "" "0000286614" "00013700" "10" "642" "-5" "642" "-5" "c.642-5C>T" "r.spl?" "p.?" "" "0000324939" "00013700" "50" "13" "0" "13" "0" "c.13G>A" "r.(?)" "p.(Gly5Arg)" "" "0000324940" "00013700" "30" "31" "0" "31" "0" "c.31A>G" "r.(?)" "p.(Arg11Gly)" "" "0000324941" "00013700" "50" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ala69Val)" "" "0000324942" "00013700" "50" "296" "0" "296" "0" "c.296A>G" "r.(?)" "p.(His99Arg)" "" "0000324943" "00013700" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Ala132Thr)" "" "0000324944" "00013700" "50" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Val181Met)" "" "0000324946" "00013700" "50" "896" "0" "896" "0" "c.896A>G" "r.(?)" "p.(Gln299Arg)" "" "0000408415" "00013700" "90" "0" "0" "0" "0" "c.-20_*693{0}" "r.0" "p.0" "" "0000559341" "00013700" "30" "206" "0" "206" "0" "c.206C>T" "r.(?)" "p.(Ala69Val)" "" "0000559342" "00013700" "10" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Asp148=)" "" "0000559343" "00013700" "30" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Leu161=)" "" "0000559344" "00013700" "10" "799" "-16" "799" "-16" "c.799-16C>T" "r.(=)" "p.(=)" "" "0000559345" "00013700" "30" "799" "-16" "799" "-16" "c.799-16C>T" "r.(=)" "p.(=)" "" "0000559346" "00013700" "70" "940" "0" "940" "0" "c.940G>T" "r.(?)" "p.(Glu314Ter)" "" "0000559347" "00013700" "30" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Ser358=)" "" "0000559349" "00013700" "50" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Glu478Gly)" "" "0000616166" "00013700" "30" "248" "0" "248" "0" "c.248A>G" "r.(?)" "p.(Gln83Arg)" "" "0000616167" "00013700" "30" "799" "-20" "799" "-20" "c.799-20C>T" "r.(=)" "p.(=)" "" "0000616168" "00013700" "50" "988" "0" "988" "0" "c.988C>G" "r.(?)" "p.(Pro330Ala)" "" "0000616169" "00013700" "30" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(Tyr414=)" "" "0000630976" "00013700" "90" "1059" "0" "1059" "0" "c.1059dup" "r.[(1057_1058insa),spl]" "p.[(Leu354Thrfs*80),?]" "" "0000630977" "00013700" "90" "1059" "0" "1059" "0" "c.1059dup" "r.[(1057_1058insa),spl]" "p.[(Leu354Thrfs*80),?]" "" "0000649414" "00013700" "30" "529" "-8" "529" "-8" "c.529-8C>T" "r.(=)" "p.(=)" "" "0000649415" "00013700" "10" "541" "0" "541" "0" "c.541G>A" "r.(?)" "p.(Val181Met)" "" "0000649416" "00013700" "30" "642" "-5" "642" "-5" "c.642-5C>T" "r.spl?" "p.?" "" "0000669356" "00013700" "30" "529" "-8" "529" "-8" "c.529-8C>T" "r.(=)" "p.(=)" "" "0000669357" "00013700" "30" "642" "-5" "642" "-5" "c.642-5C>T" "r.spl?" "p.?" "" "0000680679" "00013700" "50" "685" "0" "685" "0" "c.685C>T" "r.(?)" "p.(Arg229Cys)" "" "0000686147" "00013700" "50" "1013" "0" "1013" "0" "c.1013T>C" "r.(?)" "p.(Leu338Pro)" "" "0000698845" "00013700" "70" "1073" "0" "1073" "0" "c.1073C>A" "r.(?)" "p.(Ser358*)" "" "0000725996" "00013700" "30" "135" "0" "135" "0" "c.135C>T" "r.(?)" "p.(Arg45=)" "" "0000725997" "00013700" "30" "1098" "0" "1098" "0" "c.1098C>T" "r.(?)" "p.(Ile366=)" "" "0000725998" "00013700" "30" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(Arg412=)" "" "0000725999" "00013700" "30" "1420" "0" "1420" "0" "c.1420A>G" "r.(?)" "p.(Ile474Val)" "" "0000764629" "00013700" "90" "949" "-14" "949" "-14" "c.949-14A>G" "r.948_949ins949-13_949-1" "p.fs" "" "0000764630" "00013700" "90" "560" "0" "560" "0" "c.560C>G" "r.(?)" "p.(Ser187*)" "" "0000764631" "00013700" "90" "640" "0" "641" "2" "c.640_641+2del" "r.639_642del" "p.fs" "" "0000764632" "00013700" "90" "1064" "0" "1065" "0" "c.1064_1065del" "r.1064_1065del" "p.Phe355Tyrfs*6" "" "0000764633" "00013700" "90" "59" "0" "59" "0" "c.59dup" "r.59dup" "p.Arg21Alafs*187" "" "0000764634" "00013700" "90" "634" "0" "634" "0" "c.634dup" "r.634dup" "p.Ile212Asnfs*3" "" "0000764635" "00013700" "90" "1151" "0" "1159" "0" "c.1151_1159del" "r.1151_1159del" "p.Trp384_Gln386del" "" "0000764636" "00013700" "90" "206" "0" "206" "0" "c.206C>T" "r.206c>u" "p.Ala69Val" "" "0000764637" "00013700" "90" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Leu161Pro)" "" "0000764638" "00013700" "90" "475" "0" "475" "0" "c.475del" "r.475del" "p.Ala159Profs*20" "" "0000764639" "00013700" "90" "119" "0" "119" "0" "c.119T>C" "r.119u>c" "p.Met40Thr" "" "0000764640" "00013700" "90" "8" "0" "8" "0" "c.8G>A" "r.8g>a" "p.Gly3Asp" "" "0000764641" "00013700" "90" "84" "0" "108" "0" "c.84_108del" "r.84_108del" "p.Gln31Profs*34" "" "0000764642" "00013700" "90" "393" "0" "393" "0" "c.393C>G" "r.393c>g" "p.Tyr131*" "" "0000764643" "00013700" "90" "642" "-5" "642" "-5" "c.642-5C>T" "r.641_642ins[641+1_642-6;uccag]" "p.?" "2i" "0000764644" "00013700" "90" "772" "0" "775" "0" "c.772_775del" "r.772_775del" "p.Thr258Valfs*11" "" "0000764645" "00013700" "90" "772" "0" "775" "0" "c.772_775del" "r.772_775del" "p.Thr258Valfs*11" "" "0000764646" "00013700" "90" "197" "0" "197" "0" "c.197del" "r.(?)" "p.(Gly66Valfs*7)" "" "0000764647" "00013700" "90" "" "0" "" "0" "c.-20_(1_528){0}" "r.0?" "p.0?" "" "0000764648" "00013700" "90" "640" "0" "641" "2" "c.640_641+2del" "r.spl" "p.(Glu214Glyfs*2)" "" "0000764649" "00013700" "90" "" "0" "" "0" "c.(948+1_949-1)_*693{0}" "r.?" "p.?" "" "0000764650" "00013700" "70" "365" "0" "365" "0" "c.365T>C" "r.(?)" "p.(Leu122Pro)" "" "0000764651" "00013700" "90" "" "0" "" "0" "c.(948+1_949-1)_*693{0}" "r.?" "p.?" "" "0000764652" "00013700" "70" "641" "4" "641" "7" "c.641+4_641+7del" "r.spl" "p.?" "" "0000764653" "00013700" "90" "22" "0" "34" "0" "c.22_34dup" "r.(?)" "p.(Arg12LeufsTer200)" "" "0000764654" "00013700" "70" "929" "0" "929" "0" "c.929G>C" "r.(?)" "p.(Arg310Pro)" "" "0000764655" "00013700" "90" "" "0" "" "0" "c.(948+1_949-1)_*693{0}" "r.?" "p.?" "" "0000764656" "00013700" "90" "1152" "0" "1152" "0" "c.1152G>T" "r.(?)" "p.(Trp384Cys)" "" "0000764657" "00013700" "70" "799" "-3" "799" "-3" "c.799-3C>G" "r.spl" "p.?" "" "0000764658" "00013700" "90" "560" "0" "560" "0" "c.560C>G" "r.(?)" "P.(Ser187Ter)" "" "0000764659" "00013700" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "P.(Gln266Ter)" "" "0000764660" "00013700" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "P.(Gln266Ter)" "" "0000764661" "00013700" "90" "481" "0" "481" "0" "c.481del" "r.(?)" "P.(Leu161CysfsTer18)" "" "0000764662" "00013700" "90" "" "0" "" "0" "c.-20_(1_528){0}" "r.0?" "p.0?" "" "0000764663" "00013700" "70" "1319" "0" "1319" "0" "c.1319G>T" "r.(?)" "P.(Ser440Ile)" "" "0000764664" "00013700" "90" "949" "-14" "949" "-14" "c.949-14A>G" "r.spl" "P.?" "" "0000764665" "00013700" "70" "899" "0" "899" "0" "c.899G>T" "r.(?)" "P.(Gly300Val)" "" "0000764666" "00013700" "90" "799" "-1683" "949" "-1293" "c.799-1683_949-1293del" "r.?" "p.?" "" "0000764667" "00013700" "90" "" "0" "" "0" "c.-20_*693{0}" "r.0" "p.0" "" "0000764668" "00013700" "70" "1367" "0" "1367" "0" "c.1367A>C" "r.(?)" "P.(Tyr456Ser)" "" "0000764669" "00013700" "70" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "P.(Ser477Phe)" "" "0000807621" "00013700" "30" "769" "0" "769" "0" "c.769C>T" "r.(?)" "p.(Leu257=)" "" "0000821649" "00013700" "70" "346" "0" "346" "0" "c.346C>T" "r.(?)" "p.(Gln116*)" "1" "0000864953" "00013700" "90" "22" "0" "34" "0" "c.22_34del" "r.(?)" "p.(Leu8Valfs*61)" "" "0000982109" "00013700" "50" "382" "0" "382" "0" "c.382C>T" "r.(?)" "p.(Arg128Trp)" "" "0000982110" "00013700" "30" "529" "-8" "529" "-8" "c.529-8C>T" "r.(=)" "p.(=)" "" "0000982111" "00013700" "50" "729" "0" "731" "0" "c.729_731dup" "r.(?)" "p.(Ser244dup)" "" "0000982112" "00013700" "50" "1133" "0" "1133" "0" "c.1133T>A" "r.(?)" "p.(Leu378His)" "" "0000982113" "00013700" "50" "1472" "0" "1472" "0" "c.1472G>T" "r.(?)" "p.(Ser491Ile)" "" "0000988626" "00013700" "50" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Leu161Pro)" "" "0001041386" "00013700" "50" "1358" "0" "1358" "0" "c.1358A>G" "r.(?)" "p.(Asn453Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{variantid}}" "0000184370" "0000408415" "0000276786" "0000630976" "0000276787" "0000630977" "0000292725" "0000649414" "0000292726" "0000649415" "0000292727" "0000649416" "0000305668" "0000669356" "0000305669" "0000669357" "0000310997" "0000686147" "0000316683" "0000698845" "0000363925" "0000764629" "0000363926" "0000764630" "0000363927" "0000764631" "0000363928" "0000764632" "0000363929" "0000764633" "0000363929" "0000764634" "0000363930" "0000764635" "0000363931" "0000764636" "0000363932" "0000764637" "0000363933" "0000764638" "0000363934" "0000764639" "0000363935" "0000764640" "0000363936" "0000764641" "0000363937" "0000764642" "0000363938" "0000764643" "0000363939" "0000764644" "0000363939" "0000764645" "0000363940" "0000764646" "0000363941" "0000764647" "0000363942" "0000764648" "0000363943" "0000764649" "0000363944" "0000764650" "0000363944" "0000764656" "0000363945" "0000764651" "0000363946" "0000764652" "0000363947" "0000764653" "0000363947" "0000764657" "0000363948" "0000764654" "0000363949" "0000764655" "0000363950" "0000764658" "0000363950" "0000764667" "0000363951" "0000764659" "0000363952" "0000764660" "0000363953" "0000764661" "0000363954" "0000764662" "0000363955" "0000764663" "0000363955" "0000764668" "0000363956" "0000764664" "0000363957" "0000764665" "0000363957" "0000764669" "0000363958" "0000764666" "0000391723" "0000821649" "0000453864" "0000988626"