### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MMACHC)
# 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}}"
"MMACHC"	"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria"	"1"	"p34.1"	"unknown"	"NG_013378.1"	"UD_132085415198"	""	"https://www.LOVD.nl/MMACHC"	""	"1"	"24525"	"25974"	"609831"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/MMACHC_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2020-09-18 18:26:03"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000041"	"MMACHC"	"methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria"	"001"	"NM_015506.2"	""	"NP_056321.2"	""	""	""	"-149"	"2701"	"849"	"45965856"	"45976739"	"00002"	"2012-05-11 13:11:54"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00138"	"autism"	"autism"	""	"209850"	""	""	""	"00084"	"2013-06-04 18:17:33"	"00006"	"2015-12-08 23:54:35"
"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"
"02120"	"MAHCC"	"aciduria, methylmalonic, and homocystinuria, cblC type (MAHCC)"	"AR"	"277400"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-07-09 16:30:16"
"02554"	"metabolic syndrome"	"metabolic syndrome"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-01-15 15:48:08"
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"MMACHC"	"00139"
"MMACHC"	"02120"


## Individuals ## Do not remove or alter this header ##
## Count = 27
"{{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}}"
"00000017"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000018"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00289865"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289866"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289867"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289868"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295743"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00305900"	""	""	""	"1"	""	"03695"	""	""	"M"	""	"China"	""	"0"	""	""	""	"15"
"00305906"	""	""	""	"1"	""	"03695"	""	""	"F"	""	"China"	""	"0"	""	""	""	"21"
"00305908"	""	""	""	"1"	""	"03695"	""	""	"M"	""	"China"	""	"0"	""	""	""	"24"
"00306194"	""	""	""	"1"	""	"03695"	""	""	"M"	""	"China"	""	""	""	""	""	"92"
"00311128"	""	""	""	"1"	""	"00006"	"{PMID:Guéant 2018:29302025}"	""	"F"	""	""	"00y01m"	"0"	""	""	"white"	"CHU-12122"
"00311129"	""	""	""	"1"	""	"00006"	"{PMID:Guéant 2018:29302025}"	""	"F"	""	"Japan;Korea"	"00y02m"	"0"	""	""	""	"WG-3838"
"00311130"	""	""	""	"1"	""	"00006"	"{PMID:Guéant 2018:29302025}"	""	"M"	""	""	">59y"	"0"	""	""	"white"	"WG-4152"
"00374402"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5406"
"00386503"	""	""	""	"1"	""	"00006"	"{PMID:Nair 2018:30293248}"	"patient"	""	""	"Lebanon"	""	"0"	""	""	""	""
"00386507"	""	""	""	"1"	""	"00006"	"{PMID:Nair 2018:30293248}"	"patient"	""	""	"Lebanon"	""	"0"	""	""	""	""
"00410256"	""	""	""	"1"	""	"00000"	"{PMID:Hanemaaijer 2009:19452620}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00414444"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"M"	""	"China"	""	"0"	""	""	""	"WHP111"
"00427063"	""	""	""	"1"	""	"00006"	"{PMID:Reiner 2022:36459106}"	"carrier screening 73,755 controls"	""	""	"United States"	""	"0"	""	""	""	""
"00452207"	""	""	""	"2"	""	"00006"	"{PMID:Wang 2019:31737040}"	"screening 401,660 newborns for inborn errors of metabolism"	""	""	"China"	""	"0"	""	""	""	""
"00452208"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2019:31737040}"	"screening 401,660 newborns for inborn errors of metabolism"	""	""	"China"	""	"0"	""	""	""	""
"00452209"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2019:31737040}"	"screening 401,660 newborns for inborn errors of metabolism"	""	""	"China"	""	"0"	""	""	""	""
"00452210"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2019:31737040}"	"screening 401,660 newborns for inborn errors of metabolism"	""	""	"China"	""	"0"	""	""	""	""
"00453634"	""	""	""	"1"	""	"00006"	"{PMID:Navarrete 2019:30626930}"	"newborn screening"	""	""	"Spain"	""	"0"	""	""	""	"Pat50"
"00467344"	""	""	""	"1"	""	"00006"	"{PMID:Tong 2018:29581464}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"Pat_02"
"00467345"	""	""	""	"1"	""	"00006"	"{PMID:Tong 2018:29581464}"	"patient"	"F"	""	"China"	""	"0"	""	""	""	"Pat_05"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 29
"{{individualid}}"	"{{diseaseid}}"
"00000017"	"00138"
"00000017"	"05378"
"00000018"	"00138"
"00000018"	"05378"
"00289865"	"00198"
"00289866"	"00198"
"00289867"	"00198"
"00289868"	"00198"
"00295743"	"00198"
"00305900"	"00198"
"00305906"	"00198"
"00305908"	"00198"
"00306194"	"02120"
"00311128"	"02120"
"00311129"	"02120"
"00311130"	"02120"
"00374402"	"00198"
"00386503"	"00198"
"00386507"	"00198"
"00410256"	"00198"
"00414444"	"00198"
"00427063"	"00000"
"00452207"	"00198"
"00452208"	"00198"
"00452209"	"00198"
"00452210"	"00198"
"00453634"	"02554"
"00467344"	"05611"
"00467345"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00139, 00198, 02120, 02554, 05378, 05611
## Count = 20
"{{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}}"
"0000223261"	"00198"	"00295743"	"01164"	"Unknown"	""	"Absence seizures with eyelid myoclonia (HP:0011149); Abnormality of brain morphology (HP:0012443); Brain atrophy (HP:0012444); Abnormality of nervous system physiology (HP:0012638); Neurological speech impairment (HP:0002167); Language impairment (HP:0002463)"	""	""	""	""	""	""	""	""	""	""	""
"0000231747"	"00198"	"00305900"	"03695"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MAHCC"	"methylmalonic aciduria and homocystinuria, cblC type"	""
"0000231754"	"00198"	"00305906"	"03695"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MAHCC"	"methylmalonic aciduria and homocystinuria, cblC type"	""
"0000231763"	"00198"	"00305908"	"03695"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"MAHCC"	"methylmalonic aciduria and homocystinuria, cblC type"	""
"0000232042"	"02120"	"00306194"	"03695"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236383"	"02120"	"00311128"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"MAHCC"	"methylmalonic aciduria, homocystinuria"	""
"0000236384"	"02120"	"00311129"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000236385"	"02120"	"00311130"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000269612"	"00198"	"00374402"	"00006"	"Familial, autosomal recessive"	""	"Global developmental delay, seizures, spasticity, tremors, pancytopenia, optic atrophy, alopecia, hyperpigmentation and recurrent respiratory tract infection. MRI showed white matter hyperintensities and mild prominence of bilateral subarachnoid spaces"	""	""	""	""	""	""	""	""	""	"spasticity"	""
"0000280309"	"00198"	"00386503"	"00006"	"Unknown"	""	"intellectual disability; developmental delay; failure to thrive (metabolic)"	""	""	""	""	""	""	""	""	""	""	""
"0000280313"	"00198"	"00386507"	"00006"	"Unknown"	""	"ketosis; lactic acidosis; elevated leucine-isoleucine-valine (metabolic)"	""	""	""	""	""	""	""	""	""	""	""
"0000302361"	"00198"	"00410256"	"00000"	"Familial, autosomal recessive"	"10m"	"Birth weight 2505 g (-2.5 standard deviations, SD), head circumference: 33 cm (-1.3 SD); bilateral coloboma of the iris and fundus and opacification of the inferior nasal part of the cornea; 2 months: right-sided inguinal hernia surgically corrected; one month later hospitalisation because of feeding difficulties and a laryngomalacia was diagnosed by laryngotracheobronchoscopy. 3m3w: length 58.5 cm (-2.3 SD), head circumference 36 cm (-2.5 SD); 80 dB mixed hearing loss of the left ear, 11 pairs of ribs with a hypoplastic first rib (left side more pronounced than right side), a sacral dimple and hypertonia; cerebral magnetic resonance imaging, cardiac and renal ultrasound, metabolic screening (including creatine kinase): normal; intra-uterine infections, especially cytomegalovirus infection: excluded; last examination: 9 months old, despite continuing feeding problems, catch-up growth with a length of 71 cm (-0.9 SD); microcephaly severely progressive - head circumference of 39.2 cm (-5.0 SD) with plagiocephaly; craniosynostosis excluded by X-ray examination; nystagmus with severe visual impairment, axial hypotonia with head lag, hypertonia of limbs and developmental delay were noted during neurological examination; no directive movements or visual pursuit; clinical episodes of suspected convulsions, electroencephalography: no signs of epilepsy"	"0m"	""	""	""	""	""	""	""	"intra-uterine growth retardation, microcephaly, coloboma, laryngomalacia and developmental delay"	""	""
"0000306279"	"00198"	"00414444"	"00000"	"Familial, autosomal recessive"	"4y"	""	""	""	""	""	""	""	""	""	"Methylmalonic aciduria and homocystinuria CblC type"	""	""
"0000340810"	"00198"	"00452207"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MAHCC"	"methylmalonic acidemia"	""
"0000340811"	"00198"	"00452208"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MAHCC"	"methylmalonic acidemia"	""
"0000340812"	"00198"	"00452209"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MAHCC"	"methylmalonic acidemia"	""
"0000340813"	"00198"	"00452210"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"MAHCC"	"methylmalonic acidemia"	""
"0000342291"	"02554"	"00453634"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., newborn screening tandem mass spectrometry dried blood spots"	"05y-08y"	""	""	""	""	""	""	""	"MAHCC"	"inborn error of metabolism"	""
"0000352551"	"05611"	"00467344"	"00006"	"Familial, autosomal recessive"	""	"global developmental delay, muscular hypotonia, intellectual disability, dyspnea, frontotemporal extracerebral space widened"	"1.2y"	""	""	""	""	""	""	""	"MAHCC"	"neurodevelopmental delay, dyspnea"	""
"0000352552"	"05611"	"00467345"	"00006"	"Familial, autosomal recessive"	""	"developmental delay, eczema, respiratory failure requiring assisted ventilation"	"5m"	""	""	""	""	""	""	""	"MAHCC"	"neurodevelopmental delay, dyspnea"	""


## Screenings ## Do not remove or alter this header ##
## Count = 27
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000017"	"00000017"	"1"	"00004"	""	"2012-05-11 13:18:40"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000018"	"00000018"	"1"	"00004"	""	"2012-05-11 13:18:40"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000291033"	"00289865"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291034"	"00289866"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291035"	"00289867"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291036"	"00289868"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296916"	"00295743"	"1"	"01164"	"01164"	"2020-03-26 12:29:53"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000307031"	"00305900"	"1"	"03695"	"03695"	"2020-07-05 15:10:00"	""	""	"SEQ-NG"	"DNA"	""	""
"0000307037"	"00305906"	"1"	"03695"	"03695"	"2020-07-05 16:00:11"	""	""	"SEQ-NG"	"DNA"	""	""
"0000307046"	"00305908"	"1"	"03695"	"03695"	"2020-07-05 16:08:16"	""	""	"SEQ-NG"	"DNA"	""	""
"0000307328"	"00306194"	"1"	"03695"	"03695"	"2020-07-11 07:27:20"	""	""	"SEQ-NG"	"DNA"	""	""
"0000312282"	"00311128"	"1"	"00006"	"00006"	"2020-09-18 18:22:29"	""	""	"SEQ"	"DNA"	""	""
"0000312283"	"00311129"	"1"	"00006"	"00006"	"2020-09-18 18:31:22"	""	""	"SEQ"	"DNA"	""	""
"0000312284"	"00311130"	"1"	"00006"	"00006"	"2020-09-18 18:38:04"	""	""	"SEQ"	"DNA"	""	""
"0000375596"	"00374402"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000387730"	"00386503"	"1"	"00006"	"00006"	"2021-10-22 17:45:19"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000387734"	"00386507"	"1"	"00006"	"00006"	"2021-10-22 17:45:19"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000411520"	"00410256"	"1"	"00000"	"03840"	"2022-05-22 20:24:19"	""	""	"arrayCGH;FISH;SEQ"	"DNA"	"blood"	""
"0000415724"	"00414444"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000428383"	"00427063"	"1"	"00006"	"00006"	"2022-12-04 12:45:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"custom gene panel"
"0000453809"	"00452207"	"1"	"00006"	"00006"	"2024-07-12 14:11:07"	""	""	"SEQ"	"DNA"	""	""
"0000453810"	"00452208"	"1"	"00006"	"00006"	"2024-07-12 14:11:07"	""	""	"SEQ"	"DNA"	""	""
"0000453811"	"00452209"	"1"	"00006"	"00006"	"2024-07-12 14:11:07"	""	""	"SEQ"	"DNA"	""	""
"0000453812"	"00452210"	"1"	"00006"	"00006"	"2024-07-12 14:11:07"	""	""	"SEQ"	"DNA"	""	""
"0000455246"	"00453634"	"1"	"00006"	"00006"	"2024-09-11 15:27:41"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"119-gene panel"
"0000469007"	"00467344"	"1"	"00006"	"00006"	"2025-10-12 14:40:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000469008"	"00467345"	"1"	"00006"	"00006"	"2025-10-12 14:40:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 37
"{{screeningid}}"	"{{geneid}}"
"0000000017"	"ALG6"
"0000000017"	"ASPA"
"0000000017"	"ATP7B"
"0000000017"	"DPYD"
"0000000017"	"GLB1"
"0000000017"	"LAMA2"
"0000000017"	"MMACHC"
"0000000017"	"MPL"
"0000000017"	"MYO5A"
"0000000017"	"NHLRC1"
"0000000017"	"NPHS1"
"0000000017"	"SERPINA1"
"0000000017"	"SMPD1"
"0000000018"	"ALG6"
"0000000018"	"ASPA"
"0000000018"	"ATP7B"
"0000000018"	"DPYD"
"0000000018"	"GLB1"
"0000000018"	"LAMA2"
"0000000018"	"MMACHC"
"0000000018"	"MPL"
"0000000018"	"MYO5A"
"0000000018"	"NHLRC1"
"0000000018"	"NPHS1"
"0000000018"	"SERPINA1"
"0000000018"	"SMPD1"
"0000307031"	"MMACHC"
"0000307037"	"MMACHC"
"0000307046"	"MMACHC"
"0000307328"	"MMACHC"
"0000375596"	"MMACHC"
"0000411520"	"POMGNT1"
"0000415724"	"MMACHC"
"0000453809"	"MMACHC"
"0000453810"	"MMACHC"
"0000453811"	"MMACHC"
"0000453812"	"MMACHC"


## 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 = 124
"{{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}}"
"0000000097"	"0"	"50"	"1"	"45973217"	"45973217"	"dup"	"0"	"00002"	"MMACHC_000001"	"g.45973217dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.45507545dup"	""	"VUS"	""
"0000000098"	"0"	"50"	"1"	"45973217"	"45973217"	"dup"	"0"	"00002"	"MMACHC_000001"	"g.45973217dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.45507545dup"	""	"VUS"	""
"0000279844"	"0"	"30"	"1"	"45973127"	"45973127"	"subst"	"0.000584952"	"02330"	"MMACHC_000005"	"g.45973127C>T"	""	""	""	"MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45507455C>T"	""	"likely benign"	""
"0000279845"	"0"	"10"	"1"	"45973928"	"45973928"	"subst"	"0.472448"	"02330"	"MMACHC_000008"	"g.45973928G>A"	""	""	""	"MMACHC(NM_015506.3):c.321G>A (p.V107=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45508256G>A"	""	"benign"	""
"0000279847"	"0"	"50"	"1"	"45966071"	"45966071"	"subst"	"0.000414217"	"02330"	"MMACHC_000003"	"g.45966071G>T"	""	""	""	"MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45500399G>T"	""	"VUS"	""
"0000279848"	"0"	"50"	"1"	"45974808"	"45974808"	"subst"	"9.00761E-5"	"02330"	"MMACHC_000013"	"g.45974808C>T"	""	""	""	"MMACHC(NM_015506.3):c.770C>T (p.P257L, p.(Pro257Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45509136C>T"	""	"VUS"	""
"0000282552"	"0"	"10"	"1"	"45973928"	"45973928"	"subst"	"0.472448"	"02325"	"MMACHC_000008"	"g.45973928G>A"	""	""	""	"MMACHC(NM_015506.3):c.321G>A (p.V107=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45508256G>A"	""	"benign"	""
"0000282553"	"0"	"90"	"1"	"45974478"	"45974478"	"subst"	"0.000321735"	"02325"	"MMACHC_000009"	"g.45974478G>C"	""	""	""	"MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45508806G>C"	""	"pathogenic"	""
"0000286617"	"0"	"70"	"1"	"45973222"	"45973222"	"subst"	"1.62555E-5"	"02326"	"MMACHC_000007"	"g.45973222G>T"	""	""	""	"MMACHC(NM_015506.2):c.276G>T (p.E92D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45507550G>T"	""	"likely pathogenic"	""
"0000320796"	"0"	"50"	"1"	"45966051"	"45966051"	"subst"	"4.06085E-6"	"01804"	"MMACHC_000002"	"g.45966051T>C"	""	""	""	"MMACHC(NM_015506.2):c.47T>C (p.(Leu16Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45500379T>C"	""	"VUS"	""
"0000320797"	"0"	"50"	"1"	"45966071"	"45966071"	"subst"	"0.000414217"	"01804"	"MMACHC_000003"	"g.45966071G>T"	""	""	""	"MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45500399G>T"	""	"VUS"	""
"0000320798"	"0"	"50"	"1"	"45973103"	"45973103"	"subst"	"0.000129971"	"01804"	"MMACHC_000004"	"g.45973103C>T"	""	""	""	"MMACHC(NM_015506.2):c.157C>T (p.(Leu53Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45507431C>T"	""	"VUS"	""
"0000320799"	"0"	"50"	"1"	"45973127"	"45973127"	"subst"	"0.000584952"	"01804"	"MMACHC_000005"	"g.45973127C>T"	""	""	""	"MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45507455C>T"	""	"VUS"	""
"0000320801"	"0"	"90"	"1"	"45973217"	"45973217"	"dup"	"0"	"01804"	"MMACHC_000006"	"g.45973217dup"	""	""	""	"MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45507545dup"	""	"pathogenic"	""
"0000320802"	"0"	"50"	"1"	"45974510"	"45974510"	"subst"	"0.000215412"	"01804"	"MMACHC_000010"	"g.45974510T>C"	""	""	""	"MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45508838T>C"	""	"VUS"	""
"0000320805"	"0"	"30"	"1"	"45974835"	"45974835"	"subst"	"0"	"01804"	"MMACHC_000014"	"g.45974835C>G"	""	""	""	"MMACHC(NM_015506.2):c.797C>G (p.(Ala266Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.45509163C>G"	""	"likely benign"	""
"0000507695"	"0"	"50"	"1"	"45966012"	"45966012"	"subst"	"0.000105579"	"02330"	"MMACHC_000015"	"g.45966012C>G"	""	""	""	"MMACHC(NM_015506.3):c.8C>G (p.P3R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45500340C>G"	""	"VUS"	""
"0000507696"	"0"	"30"	"1"	"45973072"	"45973072"	"subst"	"0.00013812"	"02330"	"MMACHC_000016"	"g.45973072G>A"	""	""	""	"MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45507400G>A"	""	"likely benign"	""
"0000507697"	"0"	"10"	"1"	"45973124"	"45973124"	"subst"	"0.00644213"	"02330"	"MMACHC_000017"	"g.45973124G>C"	""	""	""	"MMACHC(NM_001330540.1):c.7G>C (p.(Asp3His)), MMACHC(NM_015506.3):c.178G>C (p.D60H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45507452G>C"	""	"benign"	""
"0000507698"	"0"	"50"	"1"	"45973127"	"45973127"	"subst"	"0.000584952"	"02325"	"MMACHC_000005"	"g.45973127C>T"	""	""	""	"MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45507455C>T"	""	"VUS"	""
"0000507699"	"0"	"90"	"1"	"45973217"	"45973217"	"dup"	"0"	"02330"	"MMACHC_000006"	"g.45973217dup"	""	""	""	"MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45507545dup"	""	"pathogenic"	""
"0000507700"	"0"	"90"	"1"	"45973217"	"45973217"	"dup"	"0"	"01943"	"MMACHC_000006"	"g.45973217dup"	""	""	""	"MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45507545dup"	""	"pathogenic"	""
"0000507701"	"0"	"30"	"1"	"45973228"	"45973228"	"del"	"0"	"02330"	"MMACHC_000018"	"g.45973228del"	""	""	""	"MMACHC(NM_015506.3):c.276+6delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45507556del"	""	"likely benign"	""
"0000507702"	"0"	"50"	"1"	"45973923"	"45973923"	"subst"	"0.0005241"	"02330"	"MMACHC_000019"	"g.45973923G>A"	""	""	""	"MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45508251G>A"	""	"VUS"	""
"0000507703"	"0"	"50"	"1"	"45973923"	"45973923"	"subst"	"0.0005241"	"01943"	"MMACHC_000019"	"g.45973923G>A"	""	""	""	"MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45508251G>A"	""	"VUS"	""
"0000507704"	"0"	"50"	"1"	"45973923"	"45973923"	"subst"	"0.0005241"	"02325"	"MMACHC_000019"	"g.45973923G>A"	""	""	""	"MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45508251G>A"	""	"VUS"	""
"0000507705"	"0"	"30"	"1"	"45974012"	"45974012"	"subst"	"0"	"01943"	"MMACHC_000020"	"g.45974012G>A"	""	""	""	"MMACHC(NM_001330540.1):c.234G>A (p.V78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45508340G>A"	""	"likely benign"	""
"0000507706"	"0"	"50"	"1"	"45974471"	"45974471"	"subst"	"4.07817E-5"	"01804"	"MMACHC_000021"	"g.45974471A>G"	""	""	""	"MMACHC(NM_001330540.1):c.262A>G (p.(Ile88Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45508799A>G"	""	"VUS"	""
"0000507707"	"0"	"50"	"1"	"45974471"	"45974471"	"subst"	"4.07817E-5"	"02327"	"MMACHC_000021"	"g.45974471A>G"	""	""	""	"MMACHC(NM_001330540.1):c.262A>G (p.(Ile88Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45508799A>G"	""	"VUS"	""
"0000507708"	"0"	"70"	"1"	"45974478"	"45974478"	"subst"	"0.000321735"	"02327"	"MMACHC_000009"	"g.45974478G>C"	""	""	""	"MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45508806G>C"	""	"likely pathogenic"	""
"0000507709"	"0"	"50"	"1"	"45974510"	"45974510"	"subst"	"0.000215412"	"02327"	"MMACHC_000010"	"g.45974510T>C"	""	""	""	"MMACHC(NM_015506.2):c.472T>C (p.(Phe158Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45508838T>C"	""	"VUS"	""
"0000507710"	"0"	"30"	"1"	"45974776"	"45974776"	"subst"	"0.00496959"	"01804"	"MMACHC_000022"	"g.45974776C>T"	""	""	""	"MMACHC(NM_001330540.1):c.567C>T (p.(Pro189=)), MMACHC(NM_015506.3):c.738C>T (p.P246=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45509104C>T"	""	"likely benign"	""
"0000507711"	"0"	"10"	"1"	"45974849"	"45974849"	"subst"	"0.0112573"	"02330"	"MMACHC_000023"	"g.45974849A>G"	""	""	""	"MMACHC(NM_015506.2):c.811A>G (p.(Ser271Gly)), MMACHC(NM_015506.3):c.811A>G (p.S271G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45509177A>G"	""	"benign"	""
"0000507712"	"0"	"50"	"1"	"45974886"	"45974889"	"del"	"0"	"02325"	"MMACHC_000024"	"g.45974886_45974889del"	""	""	""	"MMACHC(NM_015506.3):c.846_849delTTGA (p.*283Ffs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45509214_45509217del"	""	"VUS"	""
"0000507713"	"0"	"30"	"1"	"45977060"	"45977060"	"subst"	"4.084E-6"	"01804"	"MMACHC_000025"	"g.45977060T>C"	""	""	""	"PRDX1(NM_001202431.1):c.541A>G (p.(Ser181Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45511388T>C"	""	"likely benign"	""
"0000605805"	"0"	"50"	"1"	"45973127"	"45973127"	"subst"	"0.000584952"	"01943"	"MMACHC_000005"	"g.45973127C>T"	""	""	""	"MMACHC(NM_001330540.1):c.10C>T (p.R4W, p.(Arg4Trp)), MMACHC(NM_001330540.2):c.10C>T (p.R4W), MMACHC(NM_015506.3):c.181C>T (p.R61W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45507455C>T"	""	"VUS"	""
"0000605806"	"0"	"90"	"1"	"45973217"	"45973217"	"dup"	"0"	"02327"	"MMACHC_000006"	"g.45973217dup"	""	""	""	"MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45507545dup"	""	"pathogenic"	""
"0000605807"	"0"	"10"	"1"	"45973928"	"45973928"	"subst"	"0.472448"	"02327"	"MMACHC_000008"	"g.45973928G>A"	""	""	""	"MMACHC(NM_015506.3):c.321G>A (p.V107=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45508256G>A"	""	"benign"	""
"0000620654"	"0"	"30"	"1"	"45973072"	"45973072"	"subst"	"0.00013812"	"01943"	"MMACHC_000016"	"g.45973072G>A"	""	""	""	"MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.45507400G>A"	""	"likely benign"	""
"0000647722"	"1"	"90"	"1"	"45966007"	"45966007"	"subst"	"8.12156E-6"	"03575"	"MMACHC_000026"	"g.45966007G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs779893448}"	"Germline"	""	"rs779893448"	"0"	""	""	"g.45500335G>A"	""	"pathogenic"	""
"0000647723"	"1"	"70"	"1"	"45973954"	"45973954"	"subst"	"4.87611E-5"	"03575"	"MMACHC_000027"	"g.45973954T>C"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs121918240}"	"Germline"	""	"rs121918240"	"0"	""	""	"g.45508282T>C"	""	"likely pathogenic"	""
"0000647724"	"1"	"90"	"1"	"45974001"	"45974001"	"subst"	"0.000101602"	"03575"	"MMACHC_000028"	"g.45974001C>T"	"3/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs121918241}"	"Germline"	""	"rs121918241"	"0"	""	""	"g.45508329C>T"	""	"pathogenic"	""
"0000647725"	"1"	"50"	"1"	"45974886"	"45974886"	"subst"	"0.00109725"	"03575"	"MMACHC_000029"	"g.45974886G>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs201025783}"	"Germline"	""	"rs201025783"	"0"	""	""	"g.45509214G>T"	""	"VUS"	""
"0000659567"	"0"	"50"	"1"	"45974886"	"45974886"	"subst"	"0.000273293"	"01164"	"MMACHC_000030"	"g.45974886G>C"	""	""	""	""	"no second variant detected in MMACHC"	"Germline"	""	"rs201025783"	"0"	""	""	"g.45509214G>C"	""	"VUS"	"ACMG"
"0000673566"	"1"	"90"	"1"	"45973163"	"45973163"	"subst"	"4.06213E-6"	"03695"	"MMACHC_000031"	"g.45973163C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000673567"	"2"	"90"	"1"	"45974647"	"45974647"	"subst"	"4.06134E-5"	"03695"	"MMACHC_000032"	"g.45974647G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000673576"	"2"	"90"	"1"	"45974001"	"45974001"	"subst"	"0.000101602"	"03695"	"MMACHC_000028"	"g.45974001C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.45508329C>T"	""	"pathogenic (recessive)"	""
"0000673577"	"1"	"90"	"1"	"45974647"	"45974647"	"subst"	"4.06134E-5"	"03695"	"MMACHC_000032"	"g.45974647G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.45508975G>A"	""	"pathogenic (recessive)"	""
"0000673585"	"2"	"90"	"1"	"45974696"	"45974698"	"del"	"0"	"03695"	"MMACHC_000033"	"g.45974696_45974698del"	""	""	""	"658_660delAAG"	"no variant 2nd allele reported"	"Germline"	""	""	"0"	""	""	"g.45509024_45509026del"	""	"pathogenic"	""
"0000673946"	"2"	"90"	"1"	"45966084"	"45966084"	"subst"	"1.21835E-5"	"03695"	"MMACHC_000034"	"g.45966084A>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000673947"	"2"	"90"	"1"	"45974696"	"45974698"	"del"	"0"	"03695"	"MMACHC_000033"	"g.45974696_45974698del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000675877"	"0"	"50"	"1"	"45973091"	"45973091"	"subst"	"4.06171E-6"	"01943"	"MMACHC_000035"	"g.45973091G>T"	""	""	""	"MMACHC(NM_015506.2):c.145G>T (p.A49S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688194"	"0"	"50"	"1"	"45966071"	"45966071"	"subst"	"0.000414217"	"01943"	"MMACHC_000003"	"g.45966071G>T"	""	""	""	"MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688195"	"0"	"70"	"1"	"45973996"	"45973996"	"subst"	"0.000109726"	"02327"	"MMACHC_000039"	"g.45973996A>G"	""	""	""	"MMACHC(NM_001330540.1):c.218A>G (p.Y73C), MMACHC(NM_015506.2):c.389A>G (p.Y130C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000693858"	"21"	"90"	"1"	"45973217"	"45973217"	"dup"	"0"	"00006"	"MMACHC_000001"	"g.45973217dup"	""	"{PMID:Guéant 2018:29302025}"	""	"270_271insA"	""	"Germline"	""	""	"0"	""	""	"g.45507545dup"	""	"pathogenic (recessive)"	""
"0000693859"	"21"	"90"	"1"	"45966085"	"45966085"	"subst"	"0"	"00006"	"MMACHC_000036"	"g.45966085G>A"	""	"{PMID:Guéant 2018:29302025}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45500413G>A"	""	"pathogenic (recessive)"	""
"0000693860"	"1"	"90"	"1"	"45973104"	"45973104"	"subst"	"4.06177E-6"	"00006"	"MMACHC_000037"	"g.45973104T>C"	""	"{PMID:Guéant 2018:29302025}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45507432T>C"	""	"pathogenic (recessive)"	""
"0000693861"	"1"	"10"	"1"	"45965703"	"45965703"	"subst"	"0"	"00006"	"MMACHC_000038"	"g.45965703G>T"	""	"{PMID:Guéant 2018:29302025}"	""	"-302G>T"	""	"Germline"	""	"rs3748643"	"0"	""	""	""	""	"benign"	""
"0000693862"	"11"	"10"	"1"	"45965703"	"45965703"	"subst"	"0"	"00006"	"MMACHC_000038"	"g.45965703G>T"	""	""	""	"-302G>T"	""	"Germline"	""	"rs3748643"	"0"	""	""	"g.45500031G>T"	""	"benign"	""
"0000693863"	"21"	"10"	"1"	"45965703"	"45965703"	"subst"	"0"	"00006"	"MMACHC_000038"	"g.45965703G>T"	""	"{PMID:Guéant 2018:29302025}"	""	"-302G>T"	""	"Germline"	""	"rs3748643"	"0"	""	""	"g.45500031G>T"	""	"benign"	""
"0000693864"	"11"	"90"	"1"	"45977087"	"45977087"	"subst"	"4.09722E-5"	"00006"	"PRDX1_000001"	"g.45977087C>A"	""	"{PMID:Guéant 2018:29302025}"	""	""	"variant silences 2 flanking transcripts"	"Germline"	""	""	"0"	""	""	"g.45511415C>A"	""	"pathogenic (recessive)"	""
"0000693865"	"2"	"90"	"1"	"45977087"	"45977087"	"subst"	"4.09722E-5"	"00006"	"PRDX1_000001"	"g.45977087C>A"	""	"{PMID:Guéant 2018:29302025}"	""	""	"variant silences 2 flanking transcripts"	"Germline"	""	""	"0"	""	""	"g.45511415C>A"	""	"pathogenic (recessive)"	""
"0000693866"	"11"	"90"	"1"	"45977088"	"45977088"	"subst"	"0"	"00006"	"PRDX1_000002"	"g.45977088T>A"	""	"{PMID:Guéant 2018:29302025}"	""	""	"variant silences 2 flanking transcripts"	"Germline"	"yes"	""	"0"	""	""	"g.45511416T>A"	""	"pathogenic (recessive)"	""
"0000717537"	"0"	"70"	"1"	"45974478"	"45974478"	"subst"	"0.000321735"	"02329"	"MMACHC_000009"	"g.45974478G>C"	""	""	""	"MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000717538"	"0"	"50"	"1"	"45974886"	"45974886"	"subst"	"0.000273293"	"01943"	"MMACHC_000030"	"g.45974886G>C"	""	""	""	"MMACHC(NM_001330540.1):c.677G>C (p.*226Sext*14), MMACHC(NM_015506.3):c.848G>C (p.(Ter283SerextTer14))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000786947"	"3"	"90"	"1"	"45974001"	"45974001"	"subst"	"0.000101602"	"00006"	"MMACHC_000028"	"g.45974001C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45508329C>T"	""	"pathogenic"	""
"0000799401"	"0"	"50"	"1"	"45973996"	"45973996"	"subst"	"0.000109726"	"01943"	"MMACHC_000039"	"g.45973996A>G"	""	""	""	"MMACHC(NM_001330540.1):c.218A>G (p.Y73C), MMACHC(NM_015506.2):c.389A>G (p.Y130C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799402"	"0"	"30"	"1"	"45974821"	"45974821"	"subst"	"6.54172E-5"	"02330"	"MMACHC_000042"	"g.45974821G>A"	""	""	""	"MMACHC(NM_001330540.2):c.612G>A (p.G204=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000815864"	"3"	"70"	"1"	"45973217"	"45973217"	"dup"	"0"	"00006"	"MMACHC_000001"	"g.45973217dup"	""	"{PMID:Nair 2018:30293248}"	""	""	""	"Germline/De novo (untested)"	""	"rs398124292"	"0"	""	""	"g.45507545dup"	""	"likely pathogenic"	""
"0000815868"	"3"	"70"	"1"	"45974510"	"45974510"	"subst"	"0.000215412"	"00006"	"MMACHC_000010"	"g.45974510T>C"	""	"{PMID:Nair 2018:30293248}"	""	""	""	"Germline/De novo (untested)"	""	"rs201312386"	"0"	""	""	"g.45508838T>C"	""	"likely pathogenic"	""
"0000848755"	"0"	"90"	"1"	"45966005"	"45966005"	"subst"	"8.1215E-6"	"02327"	"MMACHC_000043"	"g.45966005A>G"	""	""	""	"MMACHC(NM_015506.3):c.1A>G (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000848756"	"0"	"30"	"1"	"45974471"	"45974471"	"subst"	"0.000542397"	"02330"	"MMACHC_000044"	"g.45974471A>T"	""	""	""	"MMACHC(NM_001330540.1):c.262A>T (p.(Ile88Leu)), MMACHC(NM_001330540.2):c.262A>T (p.I88L), MMACHC(NM_015506.2):c.433A>T (p.I145L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848757"	"0"	"30"	"1"	"45974622"	"45974622"	"subst"	"5.28E-5"	"01943"	"MMACHC_000045"	"g.45974622G>C"	""	""	""	"MMACHC(NM_001330540.1):c.413G>C (p.(Gly138Ala)), MMACHC(NM_015506.2):c.584G>C (p.G195A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857515"	"0"	"10"	"1"	"45973124"	"45973124"	"subst"	"0.00644213"	"01804"	"MMACHC_000017"	"g.45973124G>C"	""	""	""	"MMACHC(NM_001330540.1):c.7G>C (p.(Asp3His)), MMACHC(NM_015506.3):c.178G>C (p.D60H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000857516"	"0"	"50"	"1"	"45974471"	"45974471"	"subst"	"0.000542397"	"01804"	"MMACHC_000044"	"g.45974471A>T"	""	""	""	"MMACHC(NM_001330540.1):c.262A>T (p.(Ile88Leu)), MMACHC(NM_001330540.2):c.262A>T (p.I88L), MMACHC(NM_015506.2):c.433A>T (p.I145L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857517"	"0"	"90"	"1"	"45974696"	"45974698"	"del"	"0"	"01804"	"MMACHC_000033"	"g.45974696_45974698del"	""	""	""	"MMACHC(NM_015506.2):c.656_658del (p.(Lys220del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000857518"	"0"	"50"	"1"	"45974804"	"45974809"	"del"	"0"	"01943"	"MMACHC_000046"	"g.45974804_45974809del"	""	""	""	"MMACHC(NM_001330540.1):c.595_600del (p.(Ala199_Pro200del)), MMACHC(NM_015506.2):c.766_771delGCCCCC (p.A256_P257del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857519"	"0"	"10"	"1"	"45974849"	"45974849"	"subst"	"0.0112573"	"01804"	"MMACHC_000023"	"g.45974849A>G"	""	""	""	"MMACHC(NM_015506.2):c.811A>G (p.(Ser271Gly)), MMACHC(NM_015506.3):c.811A>G (p.S271G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000868657"	"3"	"70"	"1"	"45862062"	"46510920"	"dup"	"0"	"00000"	"MMACHC_000047"	"g.45862062_46510920dup"	""	"{PMID:Hanemaaijer 2009:19452620}"	""	"POMGNT1"	"heterozygous, both parents wild type; t(2;14)(q37.3;q13) with duplication in chromosome 1p34.1"	"De novo"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000873600"	"0"	"70"	"1"	"45973026"	"45973026"	"subst"	"0"	"00000"	"MMACHC_000048"	"g.45973026A>G"	"211"	"{PMID:Sun 2018:30076350}"	""	"MMACHC(NM_015506.2):c.82-2A>G/c.463G>C(p.G155R)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.45507354A>G"	""	"likely pathogenic"	""
"0000873601"	"0"	"70"	"1"	"45974501"	"45974501"	"subst"	"0"	"00000"	"MMACHC_000049"	"g.45974501G>C"	"211"	"{PMID:Sun 2018:30076350}"	""	"MMACHC(NM_015506.2):c.82-2A>G/c.463G>C(p.G155R)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.45508829G>C"	""	"likely pathogenic"	""
"0000883479"	"0"	"30"	"1"	"45973072"	"45973072"	"subst"	"0.00013812"	"01804"	"MMACHC_000016"	"g.45973072G>A"	""	""	""	"MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883480"	"0"	"30"	"1"	"45973239"	"45973239"	"subst"	"0.000451844"	"02326"	"MMACHC_000050"	"g.45973239T>A"	""	""	""	"MMACHC(NM_015506.2):c.276+17T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883481"	"0"	"30"	"1"	"45973880"	"45973880"	"subst"	"0.00031688"	"01804"	"MMACHC_000051"	"g.45973880C>G"	""	""	""	"MMACHC(NM_001330540.1):c.106-4C>G (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883482"	"0"	"50"	"1"	"45974804"	"45974809"	"del"	"0"	"01804"	"MMACHC_000046"	"g.45974804_45974809del"	""	""	""	"MMACHC(NM_001330540.1):c.595_600del (p.(Ala199_Pro200del)), MMACHC(NM_015506.2):c.766_771delGCCCCC (p.A256_P257del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000906108"	"1"	"90"	"1"	"45973938"	"45973938"	"subst"	"4.46973E-5"	"00006"	"MMACHC_000052"	"g.45973938C>T"	"1/73755 controls"	"{PMID:Reiner 2022:36459106}"	""	""	"combination alleles not determined"	"Germline"	""	""	"0"	""	""	"g.45508266C>T"	""	"pathogenic (recessive)"	""
"0000906166"	"0"	"90"	"1"	"45974478"	"45974478"	"subst"	"0.000321735"	"00006"	"MMACHC_000009"	"g.45974478G>C"	"1/73755 controls"	"{PMID:Reiner 2022:36459106}"	""	""	"combination alleles not determined"	"Germline"	""	""	"0"	""	""	"g.45508806G>C"	""	"pathogenic (recessive)"	""
"0000911084"	"0"	"50"	"1"	"45973028"	"45973028"	"subst"	"8.1359E-6"	"01804"	"MMACHC_000053"	"g.45973028G>A"	""	""	""	"MMACHC(NM_001330540.1):c.-90G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000911085"	"0"	"50"	"1"	"45974679"	"45974679"	"subst"	"0.000154365"	"01804"	"MMACHC_000054"	"g.45974679G>A"	""	""	""	"MMACHC(NM_001330540.1):c.470G>A (p.(Arg157His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000911086"	"0"	"10"	"1"	"45974776"	"45974776"	"subst"	"0.00496959"	"02325"	"MMACHC_000022"	"g.45974776C>T"	""	""	""	"MMACHC(NM_001330540.1):c.567C>T (p.(Pro189=)), MMACHC(NM_015506.3):c.738C>T (p.P246=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000947261"	"0"	"50"	"1"	"45966071"	"45966071"	"subst"	"0.000414217"	"02325"	"MMACHC_000003"	"g.45966071G>T"	""	""	""	"MMACHC(NM_001330540.1):c.-156G>T (p.(=)), MMACHC(NM_015506.2):c.67G>T (p.V23F), MMACHC(NM_015506.3):c.67G>T (p.V23F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000947262"	"0"	"30"	"1"	"45974471"	"45974471"	"subst"	"0.000542397"	"02326"	"MMACHC_000044"	"g.45974471A>T"	""	""	""	"MMACHC(NM_001330540.1):c.262A>T (p.(Ile88Leu)), MMACHC(NM_001330540.2):c.262A>T (p.I88L), MMACHC(NM_015506.2):c.433A>T (p.I145L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947263"	"0"	"90"	"1"	"45974478"	"45974478"	"subst"	"0.000321735"	"01804"	"MMACHC_000009"	"g.45974478G>C"	""	""	""	"MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000961073"	"0"	"30"	"1"	"45973072"	"45973072"	"subst"	"0.00013812"	"02326"	"MMACHC_000016"	"g.45973072G>A"	""	""	""	"MMACHC(NM_001330540.1):c.-46G>A (p.(=)), MMACHC(NM_015506.2):c.126G>A (p.P42=), MMACHC(NM_015506.3):c.126G>A (p.P42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000961074"	"0"	"50"	"1"	"45973939"	"45973939"	"subst"	"0.000300727"	"01804"	"MMACHC_000055"	"g.45973939G>A"	""	""	""	"MMACHC(NM_001330540.1):c.161G>A (p.(Arg54Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000961075"	"0"	"90"	"1"	"45973995"	"45973995"	"subst"	"1.6255E-5"	"01804"	"MMACHC_000056"	"g.45973995T>C"	""	""	""	"MMACHC(NM_015506.2):c.388T>C (p.(Tyr130His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000974008"	"0"	"90"	"1"	"45973217"	"45973217"	"dup"	"0"	"02326"	"MMACHC_000001"	"g.45973217dup"	""	""	""	"MMACHC(NM_001330540.1):c.100dup (p.(Arg34LysfsTer14)), MMACHC(NM_001330540.1):c.100dupA (p.R34Kfs*14), MMACHC(NM_001330540.2):c.100dupA (p.R34Kfs*...)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000974009"	"0"	"30"	"1"	"45973923"	"45973923"	"subst"	"0.0005241"	"01804"	"MMACHC_000019"	"g.45973923G>A"	""	""	""	"MMACHC(NM_001330540.1):c.145G>A (p.E49K), MMACHC(NM_001330540.2):c.145G>A (p.E49K), MMACHC(NM_015506.3):c.316G>A (p.E106K, p.(Glu106Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000974010"	"0"	"50"	"1"	"45973941"	"45973941"	"subst"	"5.28228E-5"	"01804"	"MMACHC_000057"	"g.45973941C>T"	""	""	""	"MMACHC(NM_015506.3):c.334C>T (p.(Arg112Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974011"	"0"	"90"	"1"	"45973996"	"45973996"	"subst"	"0.000109726"	"02326"	"MMACHC_000039"	"g.45973996A>G"	""	""	""	"MMACHC(NM_001330540.1):c.218A>G (p.Y73C), MMACHC(NM_015506.2):c.389A>G (p.Y130C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000974012"	"0"	"90"	"1"	"45974604"	"45974604"	"subst"	"2.84292E-5"	"01804"	"MMACHC_000058"	"g.45974604G>A"	""	""	""	"MMACHC(NM_015506.3):c.566G>A (p.(Arg189His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000974013"	"0"	"50"	"1"	"45974607"	"45974607"	"subst"	"0"	"01804"	"MMACHC_000059"	"g.45974607T>C"	""	""	""	"MMACHC(NM_015506.3):c.569T>C (p.(Ile190Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974014"	"0"	"30"	"1"	"45974622"	"45974622"	"subst"	"5.28E-5"	"01804"	"MMACHC_000045"	"g.45974622G>C"	""	""	""	"MMACHC(NM_001330540.1):c.413G>C (p.(Gly138Ala)), MMACHC(NM_015506.2):c.584G>C (p.G195A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000988571"	"0"	"90"	"1"	"45974647"	"45974647"	"subst"	"4.06134E-5"	"00006"	"MMACHC_000032"	"g.45974647G>A"	"2/20 case chromosomes"	"{PMID:Wang 2019:31737040}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45508975G>A"	""	"pathogenic"	""
"0000988572"	"0"	"90"	"1"	"45974001"	"45974001"	"subst"	"0.000101602"	"00006"	"MMACHC_000028"	"g.45974001C>T"	"1/20 case chromosomes"	"{PMID:Wang 2019:31737040}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45508329C>T"	""	"pathogenic"	""
"0000988573"	"0"	"90"	"1"	"45974605"	"45974605"	"dup"	"0"	"00006"	"MMACHC_000060"	"g.45974605dup"	"1/20 case chromosomes"	"{PMID:Wang 2019:31737040}"	""	"567dupT"	""	"Germline"	""	""	"0"	""	""	"g.45508933dup"	""	"pathogenic"	""
"0000988574"	"0"	"90"	"1"	"45974696"	"45974698"	"del"	"0"	"00006"	"MMACHC_000033"	"g.45974696_45974698del"	"1/20 case chromosomes"	"{PMID:Wang 2019:31737040}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45509024_45509026del"	""	"pathogenic"	""
"0001007279"	"3"	"70"	"1"	"45973954"	"45973954"	"subst"	"4.87611E-5"	"00006"	"MMACHC_000027"	"g.45973954T>C"	""	"{PMID:Navarrete 2019:30626930}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45508282T>C"	""	"likely pathogenic"	""
"0001013326"	"0"	"90"	"1"	"45974001"	"45974001"	"subst"	"0.000101602"	"02326"	"MMACHC_000028"	"g.45974001C>T"	""	""	""	"MMACHC(NM_015506.2):c.394C>T (p.R132*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001013327"	"0"	"90"	"1"	"45974478"	"45974478"	"subst"	"0.000321735"	"02326"	"MMACHC_000009"	"g.45974478G>C"	""	""	""	"MMACHC(NM_001330540.1):c.269G>C (p.(Gly90Ala)), MMACHC(NM_015506.2):c.440G>C (p.G147A), MMACHC(NM_015506.3):c.440G>C (p.G147A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001013328"	"0"	"50"	"1"	"45974496"	"45974496"	"subst"	"0"	"01804"	"MMACHC_000061"	"g.45974496G>C"	""	""	""	"MMACHC(NM_015506.2):c.458G>C (p.(Arg153Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032097"	"0"	"90"	"1"	"45966005"	"45966005"	"subst"	"8.1215E-6"	"02330"	"MMACHC_000043"	"g.45966005A>G"	""	""	""	"MMACHC(NM_015506.3):c.1A>G (p.M1?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001032098"	"0"	"30"	"1"	"45973111"	"45973111"	"subst"	"0.000191388"	"01804"	"MMACHC_000062"	"g.45973111G>A"	""	""	""	"MMACHC(NM_015506.3):c.165G>A (p.(Thr55=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032099"	"0"	"30"	"1"	"45974669"	"45974669"	"subst"	"0.000113716"	"01804"	"MMACHC_000063"	"g.45974669C>A"	""	""	""	"MMACHC(NM_015506.3):c.631C>A (p.(Pro211Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032100"	"0"	"50"	"1"	"45974837"	"45974837"	"subst"	"0.000219993"	"01804"	"MMACHC_000064"	"g.45974837C>T"	""	""	""	"MMACHC(NM_015506.3):c.799C>T (p.(Arg267Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001045690"	"0"	"30"	"1"	"45973876"	"45973881"	"dup"	"0"	"01804"	"MMACHC_000065"	"g.45973876_45973881dup"	""	""	""	"MMACHC(NM_001330540.1):c.106-8_106-3dup (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001045691"	"0"	"90"	"1"	"45974520"	"45974520"	"subst"	"0.00015845"	"01804"	"MMACHC_000066"	"g.45974520G>A"	""	""	""	"MMACHC(NM_001330540.1):c.311G>A (p.(Arg104Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001049156"	"1"	"90"	"1"	"45974001"	"45974001"	"subst"	"0.000101602"	"00006"	"MMACHC_000028"	"g.45974001C>T"	""	"{PMID:Tong 2018:29581464}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45508329C>T"	""	"pathogenic (recessive)"	""
"0001049157"	"1"	"90"	"1"	"45974647"	"45974647"	"subst"	"4.06134E-5"	"00006"	"MMACHC_000032"	"g.45974647G>A"	""	"{PMID:Tong 2018:29581464}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45508975G>A"	""	"pathogenic (recessive)"	""
"0001049168"	"2"	"90"	"1"	"45974664"	"45974664"	"dup"	"0"	"00006"	"MMACHC_000067"	"g.45974664dup"	""	"{PMID:Tong 2018:29581464}"	""	"625insT"	""	"Germline"	""	""	"0"	""	""	"g.45508992dup"	""	"pathogenic (recessive)"	""
"0001049169"	"2"	"90"	"1"	"45966084"	"45966084"	"subst"	"1.21835E-5"	"00006"	"MMACHC_000034"	"g.45966084A>G"	""	"{PMID:Tong 2018:29581464}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.45500412A>G"	""	"pathogenic (recessive)"	""
"0001050102"	"0"	"30"	"1"	"45974609"	"45974609"	"subst"	"2.43688E-5"	"01804"	"MMACHC_000068"	"g.45974609G>T"	""	""	""	"MMACHC(NM_015506.3):c.571G>T (p.(Ala191Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001050103"	"0"	"50"	"1"	"45974808"	"45974808"	"subst"	"9.00761E-5"	"01804"	"MMACHC_000013"	"g.45974808C>T"	""	""	""	"MMACHC(NM_015506.3):c.770C>T (p.P257L, p.(Pro257Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001050104"	"0"	"50"	"1"	"45974886"	"45974886"	"subst"	"0.000273293"	"01804"	"MMACHC_000030"	"g.45974886G>C"	""	""	""	"MMACHC(NM_001330540.1):c.677G>C (p.*226Sext*14), MMACHC(NM_015506.3):c.848G>C (p.(Ter283SerextTer14))"	"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 MMACHC
## Count = 124
"{{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}}"
"0000000097"	"00000041"	"50"	"271"	"0"	"271"	"0"	"c.271dup"	"r.(?)"	"p.(Arg91Lysfs*14)"	""
"0000000098"	"00000041"	"50"	"271"	"0"	"271"	"0"	"c.271dup"	"r.(?)"	"p.(Arg91Lysfs*14)"	""
"0000279844"	"00000041"	"30"	"181"	"0"	"181"	"0"	"c.181C>T"	"r.(?)"	"p.(Arg61Trp)"	""
"0000279845"	"00000041"	"10"	"321"	"0"	"321"	"0"	"c.321G>A"	"r.(?)"	"p.(Val107=)"	""
"0000279847"	"00000041"	"50"	"67"	"0"	"67"	"0"	"c.67G>T"	"r.(?)"	"p.(Val23Phe)"	""
"0000279848"	"00000041"	"50"	"770"	"0"	"770"	"0"	"c.770C>T"	"r.(?)"	"p.(Pro257Leu)"	""
"0000282552"	"00000041"	"10"	"321"	"0"	"321"	"0"	"c.321G>A"	"r.(?)"	"p.(Val107=)"	""
"0000282553"	"00000041"	"90"	"440"	"0"	"440"	"0"	"c.440G>C"	"r.(?)"	"p.(Gly147Ala)"	""
"0000286617"	"00000041"	"70"	"276"	"0"	"276"	"0"	"c.276G>T"	"r.(?)"	"p.(Glu92Asp)"	""
"0000320796"	"00000041"	"50"	"47"	"0"	"47"	"0"	"c.47T>C"	"r.(?)"	"p.(Leu16Pro)"	""
"0000320797"	"00000041"	"50"	"67"	"0"	"67"	"0"	"c.67G>T"	"r.(?)"	"p.(Val23Phe)"	""
"0000320798"	"00000041"	"50"	"157"	"0"	"157"	"0"	"c.157C>T"	"r.(?)"	"p.(Leu53Phe)"	""
"0000320799"	"00000041"	"50"	"181"	"0"	"181"	"0"	"c.181C>T"	"r.(?)"	"p.(Arg61Trp)"	""
"0000320801"	"00000041"	"90"	"271"	"0"	"271"	"0"	"c.271dup"	"r.(?)"	"p.(Arg91LysfsTer14)"	""
"0000320802"	"00000041"	"50"	"472"	"0"	"472"	"0"	"c.472T>C"	"r.(?)"	"p.(Phe158Leu)"	""
"0000320805"	"00000041"	"30"	"797"	"0"	"797"	"0"	"c.797C>G"	"r.(?)"	"p.(Ala266Gly)"	""
"0000507695"	"00000041"	"50"	"8"	"0"	"8"	"0"	"c.8C>G"	"r.(?)"	"p.(Pro3Arg)"	""
"0000507696"	"00000041"	"30"	"126"	"0"	"126"	"0"	"c.126G>A"	"r.(?)"	"p.(Pro42=)"	""
"0000507697"	"00000041"	"10"	"178"	"0"	"178"	"0"	"c.178G>C"	"r.(?)"	"p.(Asp60His)"	""
"0000507698"	"00000041"	"50"	"181"	"0"	"181"	"0"	"c.181C>T"	"r.(?)"	"p.(Arg61Trp)"	""
"0000507699"	"00000041"	"90"	"271"	"0"	"271"	"0"	"c.271dup"	"r.(?)"	"p.(Arg91LysfsTer14)"	""
"0000507700"	"00000041"	"90"	"271"	"0"	"271"	"0"	"c.271dup"	"r.(?)"	"p.(Arg91LysfsTer14)"	""
"0000507701"	"00000041"	"30"	"276"	"6"	"276"	"6"	"c.276+6del"	"r.(=)"	"p.(=)"	""
"0000507702"	"00000041"	"50"	"316"	"0"	"316"	"0"	"c.316G>A"	"r.(?)"	"p.(Glu106Lys)"	""
"0000507703"	"00000041"	"50"	"316"	"0"	"316"	"0"	"c.316G>A"	"r.(?)"	"p.(Glu106Lys)"	""
"0000507704"	"00000041"	"50"	"316"	"0"	"316"	"0"	"c.316G>A"	"r.(?)"	"p.(Glu106Lys)"	""
"0000507705"	"00000041"	"30"	"405"	"0"	"405"	"0"	"c.405G>A"	"r.(?)"	"p.(Val135=)"	""
"0000507706"	"00000041"	"50"	"433"	"0"	"433"	"0"	"c.433A>G"	"r.(?)"	"p.(Ile145Val)"	""
"0000507707"	"00000041"	"50"	"433"	"0"	"433"	"0"	"c.433A>G"	"r.(?)"	"p.(Ile145Val)"	""
"0000507708"	"00000041"	"70"	"440"	"0"	"440"	"0"	"c.440G>C"	"r.(?)"	"p.(Gly147Ala)"	""
"0000507709"	"00000041"	"50"	"472"	"0"	"472"	"0"	"c.472T>C"	"r.(?)"	"p.(Phe158Leu)"	""
"0000507710"	"00000041"	"30"	"738"	"0"	"738"	"0"	"c.738C>T"	"r.(?)"	"p.(Pro246=)"	""
"0000507711"	"00000041"	"10"	"811"	"0"	"811"	"0"	"c.811A>G"	"r.(?)"	"p.(Ser271Gly)"	""
"0000507712"	"00000041"	"50"	"848"	"0"	"851"	"0"	"c.848_*2del"	"r.(?)"	"p.(Ter283PheextTer6)"	""
"0000507713"	"00000041"	"30"	"3022"	"0"	"3022"	"0"	"c.*2173T>C"	"r.(=)"	"p.(=)"	""
"0000605805"	"00000041"	"50"	"181"	"0"	"181"	"0"	"c.181C>T"	"r.(?)"	"p.(Arg61Trp)"	""
"0000605806"	"00000041"	"90"	"271"	"0"	"271"	"0"	"c.271dup"	"r.(?)"	"p.(Arg91LysfsTer14)"	""
"0000605807"	"00000041"	"10"	"321"	"0"	"321"	"0"	"c.321G>A"	"r.(?)"	"p.(Val107=)"	""
"0000620654"	"00000041"	"30"	"126"	"0"	"126"	"0"	"c.126G>A"	"r.(?)"	"p.(Pro42=)"	""
"0000647722"	"00000041"	"90"	"3"	"0"	"3"	"0"	"c.3G>A"	"r.(?)"	"p.(Met1?)"	""
"0000647723"	"00000041"	"70"	"347"	"0"	"347"	"0"	"c.347T>C"	"r.(?)"	"p.(Leu116Pro)"	""
"0000647724"	"00000041"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132*)"	""
"0000647725"	"00000041"	"50"	"848"	"0"	"848"	"0"	"c.848G>T"	"r.(?)"	"p.(*283Leuext*14)"	""
"0000659567"	"00000041"	"50"	"848"	"0"	"848"	"0"	"c.848G>C"	"r.(?)"	"p.(*283Serext*14)"	""
"0000673566"	"00000041"	"90"	"217"	"0"	"217"	"0"	"c.217C>T"	"r.(?)"	"p.(Arg73*)"	""
"0000673567"	"00000041"	"90"	"609"	"0"	"609"	"0"	"c.609G>A"	"r.(?)"	"p.(Trp203*)"	""
"0000673576"	"00000041"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132*)"	""
"0000673577"	"00000041"	"90"	"609"	"0"	"609"	"0"	"c.609G>A"	"r.(?)"	"p.(Trp203*)"	""
"0000673585"	"00000041"	"90"	"658"	"0"	"660"	"0"	"c.658_660del"	"r.(?)"	"p.(Lys220del)"	""
"0000673946"	"00000041"	"90"	"80"	"0"	"80"	"0"	"c.80A>G"	"r.(?)"	"p.(Gln27Arg)"	""
"0000673947"	"00000041"	"90"	"658"	"0"	"660"	"0"	"c.658_660del"	"r.(?)"	"p.(Lys220del)"	""
"0000675877"	"00000041"	"50"	"145"	"0"	"145"	"0"	"c.145G>T"	"r.(?)"	"p.(Ala49Ser)"	""
"0000688194"	"00000041"	"50"	"67"	"0"	"67"	"0"	"c.67G>T"	"r.(?)"	"p.(Val23Phe)"	""
"0000688195"	"00000041"	"70"	"389"	"0"	"389"	"0"	"c.389A>G"	"r.(?)"	"p.(Tyr130Cys)"	""
"0000693858"	"00000041"	"90"	"271"	"0"	"271"	"0"	"c.271dup"	"r.271dup"	"p.Arg91Lysfs*14"	""
"0000693859"	"00000041"	"90"	"81"	"0"	"81"	"0"	"c.81G>A"	"r.spl"	"p.?"	""
"0000693860"	"00000041"	"90"	"158"	"0"	"158"	"0"	"c.158T>C"	"r.(?)"	"p.(Leu53Pro)"	""
"0000693861"	"00000041"	"10"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000693862"	"00000041"	"10"	"0"	"0"	"0"	"0"	"-"	"r.0"	"p.0"	"_1"
"0000693863"	"00000041"	"10"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"
"0000693864"	"00000041"	"90"	"0"	"0"	"0"	"0"	"-"	"r.0"	"p.0"	""
"0000693865"	"00000041"	"90"	"0"	"0"	"0"	"0"	"-"	"r.0"	"p.0"	""
"0000693866"	"00000041"	"90"	"0"	"0"	"0"	"0"	"-"	"r.0"	"p.0"	""
"0000717537"	"00000041"	"70"	"440"	"0"	"440"	"0"	"c.440G>C"	"r.(?)"	"p.(Gly147Ala)"	""
"0000717538"	"00000041"	"50"	"848"	"0"	"848"	"0"	"c.848G>C"	"r.(?)"	"p.(*283Serext*14)"	""
"0000786947"	"00000041"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Ter)"	"3"
"0000799401"	"00000041"	"50"	"389"	"0"	"389"	"0"	"c.389A>G"	"r.(?)"	"p.(Tyr130Cys)"	""
"0000799402"	"00000041"	"30"	"783"	"0"	"783"	"0"	"c.783G>A"	"r.(?)"	"p.(Gly261=)"	""
"0000815864"	"00000041"	"70"	"271"	"0"	"271"	"0"	"c.271dup"	"r.(?)"	"p.(Arg91LysfsTer14)"	""
"0000815868"	"00000041"	"70"	"472"	"0"	"472"	"0"	"c.472T>C"	"r.(?)"	"p.(Phe158Leu)"	""
"0000848755"	"00000041"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0000848756"	"00000041"	"30"	"433"	"0"	"433"	"0"	"c.433A>T"	"r.(?)"	"p.(Ile145Leu)"	""
"0000848757"	"00000041"	"30"	"584"	"0"	"584"	"0"	"c.584G>C"	"r.(?)"	"p.(Gly195Ala)"	""
"0000857515"	"00000041"	"10"	"178"	"0"	"178"	"0"	"c.178G>C"	"r.(?)"	"p.(Asp60His)"	""
"0000857516"	"00000041"	"50"	"433"	"0"	"433"	"0"	"c.433A>T"	"r.(?)"	"p.(Ile145Leu)"	""
"0000857517"	"00000041"	"90"	"658"	"0"	"660"	"0"	"c.658_660del"	"r.(?)"	"p.(Lys220del)"	""
"0000857518"	"00000041"	"50"	"766"	"0"	"771"	"0"	"c.766_771del"	"r.(?)"	"p.(Ala256_Pro257del)"	""
"0000857519"	"00000041"	"10"	"811"	"0"	"811"	"0"	"c.811A>G"	"r.(?)"	"p.(Ser271Gly)"	""
"0000868657"	"00000041"	"70"	"-103943"	"0"	"536882"	"0"	"c.-103943_*536033dup"	"r.0?"	"p.0?"	""
"0000873600"	"00000041"	"70"	"82"	"-2"	"82"	"-2"	"c.82-2A>G"	"r.(?)"	"p.(?)"	""
"0000873601"	"00000041"	"70"	"463"	"0"	"463"	"0"	"c.463G>C"	"r.(?)"	"p.(Gly155Arg)"	""
"0000883479"	"00000041"	"30"	"126"	"0"	"126"	"0"	"c.126G>A"	"r.(?)"	"p.(Pro42=)"	""
"0000883480"	"00000041"	"30"	"276"	"17"	"276"	"17"	"c.276+17T>A"	"r.(=)"	"p.(=)"	""
"0000883481"	"00000041"	"30"	"277"	"-4"	"277"	"-4"	"c.277-4C>G"	"r.spl?"	"p.?"	""
"0000883482"	"00000041"	"50"	"766"	"0"	"771"	"0"	"c.766_771del"	"r.(?)"	"p.(Ala256_Pro257del)"	""
"0000906108"	"00000041"	"90"	"331"	"0"	"331"	"0"	"c.331C>T"	"r.(?)"	"p.(Arg111Ter)"	""
"0000906166"	"00000041"	"90"	"440"	"0"	"440"	"0"	"c.440G>C"	"r.(?)"	"p.(Gly147Ala)"	""
"0000911084"	"00000041"	"50"	"82"	"0"	"82"	"0"	"c.82G>A"	"r.(?)"	"p.(Val28Met)"	""
"0000911085"	"00000041"	"50"	"641"	"0"	"641"	"0"	"c.641G>A"	"r.(?)"	"p.(Arg214His)"	""
"0000911086"	"00000041"	"10"	"738"	"0"	"738"	"0"	"c.738C>T"	"r.(?)"	"p.(Pro246=)"	""
"0000947261"	"00000041"	"50"	"67"	"0"	"67"	"0"	"c.67G>T"	"r.(?)"	"p.(Val23Phe)"	""
"0000947262"	"00000041"	"30"	"433"	"0"	"433"	"0"	"c.433A>T"	"r.(?)"	"p.(Ile145Leu)"	""
"0000947263"	"00000041"	"90"	"440"	"0"	"440"	"0"	"c.440G>C"	"r.(?)"	"p.(Gly147Ala)"	""
"0000961073"	"00000041"	"30"	"126"	"0"	"126"	"0"	"c.126G>A"	"r.(?)"	"p.(Pro42=)"	""
"0000961074"	"00000041"	"50"	"332"	"0"	"332"	"0"	"c.332G>A"	"r.(?)"	"p.(Arg111Gln)"	""
"0000961075"	"00000041"	"90"	"388"	"0"	"388"	"0"	"c.388T>C"	"r.(?)"	"p.(Tyr130His)"	""
"0000974008"	"00000041"	"90"	"271"	"0"	"271"	"0"	"c.271dup"	"r.(?)"	"p.(Arg91LysfsTer14)"	""
"0000974009"	"00000041"	"30"	"316"	"0"	"316"	"0"	"c.316G>A"	"r.(?)"	"p.(Glu106Lys)"	""
"0000974010"	"00000041"	"50"	"334"	"0"	"334"	"0"	"c.334C>T"	"r.(?)"	"p.(Arg112Cys)"	""
"0000974011"	"00000041"	"90"	"389"	"0"	"389"	"0"	"c.389A>G"	"r.(?)"	"p.(Tyr130Cys)"	""
"0000974012"	"00000041"	"90"	"566"	"0"	"566"	"0"	"c.566G>A"	"r.(?)"	"p.(Arg189His)"	""
"0000974013"	"00000041"	"50"	"569"	"0"	"569"	"0"	"c.569T>C"	"r.(?)"	"p.(Ile190Thr)"	""
"0000974014"	"00000041"	"30"	"584"	"0"	"584"	"0"	"c.584G>C"	"r.(?)"	"p.(Gly195Ala)"	""
"0000988571"	"00000041"	"90"	"609"	"0"	"609"	"0"	"c.609G>A"	"r.(?)"	"p.(Trp203Ter)"	""
"0000988572"	"00000041"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Ter)"	""
"0000988573"	"00000041"	"90"	"567"	"0"	"567"	"0"	"c.567dup"	"r.(?)"	"p.(Ile190TyrfsTer13)"	""
"0000988574"	"00000041"	"90"	"658"	"0"	"660"	"0"	"c.658_660del"	"r.(?)"	"p.(Lys220del)"	""
"0001007279"	"00000041"	"70"	"347"	"0"	"347"	"0"	"c.347T>C"	"r.(?)"	"p.(Leu116Pro)"	""
"0001013326"	"00000041"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132*)"	""
"0001013327"	"00000041"	"90"	"440"	"0"	"440"	"0"	"c.440G>C"	"r.(?)"	"p.(Gly147Ala)"	""
"0001013328"	"00000041"	"50"	"458"	"0"	"458"	"0"	"c.458G>C"	"r.(?)"	"p.(Arg153Pro)"	""
"0001032097"	"00000041"	"90"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	""
"0001032098"	"00000041"	"30"	"165"	"0"	"165"	"0"	"c.165G>A"	"r.(?)"	"p.(=)"	""
"0001032099"	"00000041"	"30"	"631"	"0"	"631"	"0"	"c.631C>A"	"r.(?)"	"p.(Pro211Thr)"	""
"0001032100"	"00000041"	"50"	"799"	"0"	"799"	"0"	"c.799C>T"	"r.(?)"	"p.(Arg267Trp)"	""
"0001045690"	"00000041"	"30"	"277"	"-8"	"277"	"-3"	"c.277-8_277-3dup"	"r.spl?"	"p.?"	""
"0001045691"	"00000041"	"90"	"482"	"0"	"482"	"0"	"c.482G>A"	"r.(?)"	"p.(Arg161Gln)"	""
"0001049156"	"00000041"	"90"	"394"	"0"	"394"	"0"	"c.394C>T"	"r.(?)"	"p.(Arg132Ter)"	""
"0001049157"	"00000041"	"90"	"609"	"0"	"609"	"0"	"c.609G>A"	"r.(?)"	"p.(Trp203Ter)"	""
"0001049168"	"00000041"	"90"	"626"	"0"	"626"	"0"	"c.626dup"	"r.(?)"	"p.(Thr210AspfsTer35)"	""
"0001049169"	"00000041"	"90"	"80"	"0"	"80"	"0"	"c.80A>G"	"r.(?)"	"p.(Gln27Arg)"	""
"0001050102"	"00000041"	"30"	"571"	"0"	"571"	"0"	"c.571G>T"	"r.(?)"	"p.(Ala191Ser)"	""
"0001050103"	"00000041"	"50"	"770"	"0"	"770"	"0"	"c.770C>T"	"r.(?)"	"p.(Pro257Leu)"	""
"0001050104"	"00000041"	"50"	"848"	"0"	"848"	"0"	"c.848G>C"	"r.(?)"	"p.(*283Serext*14)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 40
"{{screeningid}}"	"{{variantid}}"
"0000000017"	"0000000097"
"0000000018"	"0000000098"
"0000291033"	"0000647722"
"0000291034"	"0000647723"
"0000291035"	"0000647724"
"0000291036"	"0000647725"
"0000296916"	"0000659567"
"0000307031"	"0000673566"
"0000307031"	"0000673567"
"0000307037"	"0000673576"
"0000307037"	"0000673577"
"0000307046"	"0000673585"
"0000307328"	"0000673946"
"0000307328"	"0000673947"
"0000312282"	"0000693858"
"0000312282"	"0000693863"
"0000312282"	"0000693864"
"0000312283"	"0000693859"
"0000312283"	"0000693862"
"0000312283"	"0000693866"
"0000312284"	"0000693860"
"0000312284"	"0000693861"
"0000312284"	"0000693865"
"0000375596"	"0000786947"
"0000387730"	"0000815864"
"0000387734"	"0000815868"
"0000411520"	"0000868657"
"0000415724"	"0000873600"
"0000415724"	"0000873601"
"0000428383"	"0000906108"
"0000428383"	"0000906166"
"0000453809"	"0000988571"
"0000453810"	"0000988572"
"0000453811"	"0000988573"
"0000453812"	"0000988574"
"0000455246"	"0001007279"
"0000469007"	"0001049156"
"0000469007"	"0001049168"
"0000469008"	"0001049157"
"0000469008"	"0001049169"