### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MFN2)
# 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}}"
"MFN2"	"mitofusin 2"	"1"	"p36.22"	"unknown"	"LRG_255"	"UD_132118305949"	""	"https://www.LOVD.nl/MFN2"	"IPNMDB - Inherited Peripheral Neuropathies Mutation DataBase <http://www.molgen.ua.ac.be/CMTMutations/Home/Default.cfm>"	"1"	"16877"	"9927"	"608507"	"1"	"1"	"1"	"1"	"This database is one of the gene variant databases from the:<a href=\"http://www.DMD.nl\" target=\"_blank\"><img src=\"docs/LOVD_LMDp-logo.png\"></a>\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by <a href=\"http://www.molgen.ua.ac.be/CMTMutations/Home/Default.cfm\">the IPNMDB</a>.  All variants submitted here will be shared with the IPNMDB."	""	"g"	"https://databases.lovd.nl/shared/refseq/MFN2_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <b><a href=\"http://www.DMD.nl\" target=\"_blank\">\"Leiden Muscular Dystrophy pages\" (LMDp)</a>.</b></font>"	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2021-01-12 13:06:37"	"00000"	"2025-05-19 10:33:03"


## 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}}"
"00012066"	"MFN2"	"transcript variant 1"	"001"	"NM_014874.3"	""	"NP_055689.1"	""	""	""	"-453"	"4224"	"2274"	"12040238"	"12073572"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 20
"{{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"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00199"	"CMT2"	"Charcot-Marie-Tooth disease, type 2 (CMT-2)"	""	""	""	""	""	"00006"	"2013-09-13 14:35:15"	"00006"	"2021-12-11 13:56:28"
"02342"	"HMSN6A"	"neuropathyneuropathy, motor and sensory, hereditary, with optic atrophy, type6A (HMSN6A)"	"AD"	"601152"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-01-10 12:05:02"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04250"	"-"	"retinal degeneration"	""	""	""	""	""	"00006"	"2015-05-04 22:12:01"	""	""
"04293"	"OPA"	"atrophy, optic (OPA)"	""	""	""	""	""	"00006"	"2015-06-21 20:48:01"	"00006"	"2018-11-16 15:59:50"
"05106"	"MPD"	"myopathy, distal (MPD)"	""	""	""	""	""	"00006"	"2015-12-08 01:43:19"	""	""
"05111"	"HMN"	"neuropathy, motor, distal, hereditary (HMN)"	""	""	""	""	""	"00006"	"2016-01-11 01:33:03"	"00006"	"2016-03-20 12:15:43"
"05113"	"CMT"	"Charcot-Marie-Tooth disease (CMT)"	""	""	""	""	""	"00006"	"2016-01-11 01:40:57"	""	""
"05156"	"CMT1"	"Charcot-Marie-Tooth disease, type I (CMT-1)"	""	""	""	""	""	"00006"	"2016-04-15 10:17:45"	"00006"	"2021-12-11 13:56:28"
"05157"	"HMSN"	"neuropathy, motor and sensory, hereditary (HMSN)"	""	""	""	""	""	"00006"	"2016-04-15 10:26:05"	""	""
"05176"	"CMT2A2A"	"Charcot-Marie-Tooth disease, type 2A2A (CMT2A2A)"	"AD"	"609260"	""	""	""	"00006"	"2016-07-27 21:11:22"	"00006"	"2021-01-12 13:04:56"
"05330"	"TSC"	"tuberous sclerosis"	""	""	""	""	""	"00006"	"2017-09-19 09:35:08"	"00006"	"2022-08-19 09:49:37"
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"
"05534"	"mitochondrial"	"mitochondrial disorder"	""	""	""	"maternal mitochondrial"	""	"00006"	"2018-12-22 14:29:23"	""	""
"05684"	"neuropathy, optic"	"neuropathy, optic"	""	""	""	""	""	"00006"	"2020-01-10 11:57:41"	"00091"	"2021-02-19 09:59:43"
"05889"	"CMT2A2B"	"Charcot-Marie-Tooth disease, type 2A2B (CMT2A2B)"	"AR"	"617087"	""	""	""	"00006"	"2021-01-12 13:05:55"	""	""
"06906"	"DEE"	"encephalopathy, developmental and epileptic"	""	""	""	""	""	"00006"	"2022-04-07 09:24:23"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{geneid}}"	"{{diseaseid}}"
"MFN2"	"02342"
"MFN2"	"05113"
"MFN2"	"05176"
"MFN2"	"05684"
"MFN2"	"05889"


## Individuals ## Do not remove or alter this header ##
## Count = 225
"{{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}}"
"00000019"	""	""	""	"1"	""	"00004"	"{PMID:Almomani 2011:21102627}"	""	""	""	""	""	"0"	""	""	""	""
"00003021"	""	""	""	"1"	""	"00130"	"{PMID:Neveling 2013:24123792}"	""	""	""	""	""	""	""	""	""	""
"00036119"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036120"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036121"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036122"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036123"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036124"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036125"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036126"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036127"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036128"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036129"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036130"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036131"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00036132"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00078888"	""	""	""	"1"	""	"01701"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00078889"	""	""	""	"1"	""	"01701"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00078897"	""	""	""	"127"	""	"01493"	""	"family, 2 affecteds"	"F"	"no"	"Korea, South (Republic)"	""	"0"	""	""	"Korean"	""
"00078905"	""	""	""	"1"	""	"00006"	"{PMID:Bienfait 2007:17502546}"	""	""	""	""	""	"0"	""	""	""	""
"00078906"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2004:15064763}"	""	""	""	""	""	"0"	""	""	""	""
"00078907"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2004:15064763}"	""	""	""	""	""	"0"	""	""	""	""
"00078908"	""	""	""	"1"	""	"00006"	"{PMID:Chung 2006:16835246}"	""	""	""	""	""	"0"	""	""	""	""
"00078909"	""	""	""	"1"	""	"00006"	"{PMID:McCorquodale 2011:21258814}"	""	""	""	""	""	"0"	""	""	""	""
"00078910"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2006:16437557}"	""	""	""	""	""	"0"	""	""	""	""
"00078911"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2004:15064763}"	""	""	""	""	""	"0"	""	""	""	""
"00078912"	""	""	""	"1"	""	"00006"	"{PMID:Vallat 2008:18957892}"	""	""	""	""	""	"0"	""	""	""	""
"00078913"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00078914"	""	""	""	"1"	""	"00006"	"{PMID:Brockmann 2008:18425620}"	""	""	""	""	""	"0"	""	""	""	""
"00078915"	""	""	""	"1"	""	"00006"	"{PMID:Kijima 2005:15549395}"	""	""	""	""	""	"0"	""	""	""	""
"00078916"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078917"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00078918"	""	""	""	"1"	""	"00006"	"{PMID:Chung 2006:16835246}"	""	""	""	""	""	"0"	""	""	""	""
"00078919"	""	""	""	"1"	""	"00006"	"{PMID:Engelfried 2006:16762064}"	"family, only proband available"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat1"
"00078920"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078921"	""	""	""	"1"	""	"00006"	"{PMID:Fischer 2011:21892769}"	""	""	""	""	""	"0"	""	""	""	""
"00078922"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2009:20193559}"	""	""	""	""	""	"0"	""	""	""	""
"00078923"	""	""	""	"1"	""	"00006"	"{PMID:Klein 2011:21987543}"	""	""	""	""	""	"0"	""	""	""	""
"00078924"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078925"	""	""	""	"1"	""	"00006"	"{PMID:Nicholson 2008:18458227}"	""	""	""	""	""	"0"	""	""	""	""
"00078926"	""	""	""	"1"	""	"00006"	"{PMID:Zhu 2005:16087932}"	""	""	""	""	""	"0"	""	""	""	""
"00078927"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00078928"	""	""	""	"1"	""	"00006"	"{PMID:Chung 2006:16835246}"	""	""	""	""	""	"0"	""	""	""	""
"00078929"	""	""	""	"1"	""	"00006"	"{PMID:Marchesi 2011:20951041}"	""	""	""	""	""	"0"	""	""	""	""
"00078930"	""	""	""	"5"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"family, 5 affected"	""	""	"Spain"	""	"0"	""	""	""	"CMTII-2"
"00078931"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2006:16437557}"	""	""	""	""	""	"0"	""	""	""	""
"00078932"	""	""	""	"1"	""	"00006"	"{PMID:Lawson 2005:16043786}"	""	""	""	""	""	"0"	""	""	""	""
"00078933"	""	""	""	"1"	""	"00006"	"{PMID:Nicholson 2008:18458227}"	""	""	""	""	""	"0"	""	""	""	""
"00078934"	""	""	""	"1"	""	"00006"	"{PMID:Vallat 2008:18957892}"	""	""	""	""	""	"0"	""	""	""	""
"00078935"	""	""	""	"1"	""	"00006"	"{PMID:Kijima 2005:15549395}"	""	""	""	""	""	"0"	""	""	""	""
"00078936"	""	""	""	"1"	""	"00006"	"{PMID:Sole 2009:19909486}"	""	""	""	""	""	"0"	""	""	""	""
"00078937"	""	""	""	"1"	""	"00006"	"{PMID:Kijima 2005:15549395}"	""	""	""	""	""	"0"	""	""	""	""
"00078938"	""	""	""	"1"	""	"00006"	"{PMID:Amiott 2008:18316077}"	""	""	""	""	""	"0"	""	""	""	""
"00078939"	""	""	""	"1"	""	"00006"	"{PMID:Kijima 2005:15549395}"	""	""	""	""	""	"0"	""	""	""	""
"00078940"	""	""	""	"1"	""	"00006"	"{PMID:Feely 2011:21508331}"	""	""	""	""	""	"0"	""	""	""	""
"00078941"	""	""	""	"1"	""	"00006"	"{PMID:Abe 2011:21326314}"	""	""	""	""	""	"0"	""	""	""	""
"00078942"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00078943"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00078944"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2004:15064763}"	""	""	""	""	""	"0"	""	""	""	""
"00078945"	""	""	""	"1"	""	"00006"	"{PMID:Feely 2011:21508331}"	""	""	""	""	""	"0"	""	""	""	""
"00078947"	""	""	""	"1"	""	"00006"	"{PMID:Ajroud-Driss 2009:19350291}"	""	""	""	""	""	"0"	""	""	""	""
"00078948"	""	""	""	"1"	""	"00006"	"{PMID:Chung 2006:16835246}"	""	""	""	""	""	"0"	""	""	""	""
"00078949"	""	""	""	"1"	""	"00006"	"{PMID:Lawson 2005:16043786}"	""	""	""	""	""	"0"	""	""	""	""
"00078950"	""	""	""	"1"	""	"00006"	"{PMID:Kijima 2005:15549395}"	""	""	""	""	""	"0"	""	""	""	""
"00078951"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2006:16437557}"	""	""	""	""	""	"0"	""	""	""	""
"00078952"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"CMTII-4"
"00078953"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078954"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00078955"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2004:15064763}"	""	""	""	""	""	"0"	""	""	""	""
"00078956"	""	""	""	"1"	""	"00006"	"{PMID:Kijima 2005:15549395}"	""	""	""	""	""	"0"	""	""	""	""
"00078957"	""	""	""	"2"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"CMT1344"
"00078958"	""	""	""	"1"	""	"00006"	"{PMID:Polke 2011:21715711}"	""	""	""	""	""	"0"	""	""	""	""
"00078959"	""	""	""	"1"	""	"00006"	"{PMID:Engelfried 2006:16762064}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat3"
"00078960"	""	""	""	"1"	""	"00006"	"{PMID:Cho 2007:17309650}"	""	""	""	""	""	"0"	""	""	""	""
"00078961"	""	""	""	"1"	""	"00006"	"{PMID:Kijima 2005:15549395}"	""	""	""	""	""	"0"	""	""	""	""
"00078962"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2006:16437557}"	""	""	""	""	""	"0"	""	""	""	""
"00078963"	""	""	""	"1"	""	"00006"	"{PMID:Chung 2006:16835246}"	""	""	""	""	""	"0"	""	""	""	""
"00078964"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078965"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078966"	""	""	""	"1"	""	"00006"	"{PMID:McCorquodale 2011:21258814}"	""	""	""	""	""	"0"	""	""	""	""
"00078967"	""	""	""	"2"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"CMT364"
"00078968"	""	""	""	"1"	""	"00006"	"{PMID:Chung 2006:16835246}"	""	""	""	""	""	"0"	""	""	""	""
"00078969"	""	""	""	"1"	""	"00006"	"{PMID:Engelfried 2006:16762064}"	"patient"	"M"	""	"Germany"	""	"0"	""	""	""	"Pat2"
"00078970"	""	""	""	"1"	""	"00006"	"{PMID:Brockmann 2008:18425620}"	""	""	""	""	""	"0"	""	""	""	""
"00078971"	""	""	""	"1"	""	"00006"	"{PMID:Muglia 2007:17940179}"	""	""	""	""	""	"0"	""	""	""	""
"00078972"	""	""	""	"1"	""	"00006"	"{PMID:Nicholson 2008:18458227}"	""	""	""	""	""	"0"	""	""	""	""
"00078973"	""	""	""	"1"	""	"00006"	"{PMID:Feely 2011:21508331}"	""	""	""	""	""	"0"	""	""	""	""
"00078974"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00078975"	""	""	""	"1"	""	"00006"	"{PMID:Baets 2011:21840889}"	""	""	""	""	""	"0"	""	""	""	""
"00078976"	""	""	""	"1"	""	"00006"	"{PMID:Kijima 2005:15549395}"	""	""	""	""	""	"0"	""	""	""	""
"00078977"	""	""	""	"1"	""	"00006"	"{PMID:Kijima 2005:15549395}"	""	""	""	""	""	"0"	""	""	""	""
"00078978"	""	""	""	"1"	""	"00006"	"{PMID:Chung 2008:18490623}"	""	""	""	""	""	"0"	""	""	""	""
"00078979"	""	""	""	"1"	""	"00006"	"{PMID:Engelfried 2006:16762064}"	"2-generation family, affected daughter/father"	"F"	""	"Germany"	""	"0"	""	""	""	"Pat4"
"00078980"	""	""	""	"1"	""	"00006"	"{PMID:Polke 2011:21715711}"	""	""	""	""	""	"0"	""	""	""	""
"00078981"	""	""	""	"1"	""	"00006"	"{PMID:Braathen 2010:20350294}"	""	""	""	""	""	"0"	""	""	""	""
"00078982"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078983"	""	""	""	"1"	""	"00006"	"{PMID:Engelfried 2006:16762064}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"Pat5"
"00078984"	""	""	""	"1"	""	"00006"	"{PMID:Nicholson 2008:18458227}"	""	""	""	""	""	"0"	""	""	""	""
"00078985"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00078986"	""	""	""	"1"	""	"00006"	"{PMID:Benedetti 2010:21149811}"	""	""	""	""	""	"0"	""	""	""	""
"00078987"	""	""	""	"1"	""	"00006"	"{PMID:Braathen 2010:20350294}"	""	""	""	""	""	"0"	""	""	""	""
"00078988"	""	""	""	"1"	""	"00006"	"{PMID:Abe 2011:21326314}"	""	""	""	""	""	"0"	""	""	""	""
"00078989"	""	""	""	"1"	""	"00006"	"{PMID:Amiott 2008:18316077}"	""	""	""	""	""	"0"	""	""	""	""
"00078990"	""	""	""	"1"	""	"00006"	"{PMID:Benedetti 2010:21149811}"	""	""	""	""	""	"0"	""	""	""	""
"00078991"	""	""	""	"1"	""	"00006"	"{PMID:Zuchner 2004:15064763}"	""	""	""	""	""	"0"	""	""	""	""
"00078992"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078993"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078994"	""	""	""	"1"	""	"00006"	"{PMID:Calvo 2009:20008656}"	""	""	""	""	""	"0"	""	""	""	""
"00078995"	""	""	""	"1"	""	"00006"	"{PMID:Feely 2011:21508331}"	""	""	""	""	""	"0"	""	""	""	""
"00078996"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00078997"	""	""	""	"1"	""	"00006"	"{PMID:Feely 2011:21508331}"	""	""	""	""	""	"0"	""	""	""	""
"00078998"	""	""	""	"1"	""	"00006"	"{PMID:Polke 2011:21715711}"	""	""	""	""	""	"0"	""	""	""	""
"00078999"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00079000"	""	""	""	"1"	""	"00006"	"{PMID:Verhoeven 2006:16714318}"	""	""	""	""	""	"0"	""	""	""	""
"00079001"	""	""	""	"1"	""	"00006"	"{PMID:McCorquodale 2011:21258814}"	""	""	""	""	""	"0"	""	""	""	""
"00079002"	""	""	""	"1"	""	"00006"	"{PMID:Engelfried 2006:16762064}"	""	"M"	""	"Germany"	""	"0"	""	""	""	"Pat6"
"00080836"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected non-carrier parents"	""	""	""	""	"0"	""	""	""	""
"00103965"	""	""	""	"1"	""	"01164"	""	""	"F"	"?"	"Germany"	""	"0"	""	""	""	"113952"
"00152017"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	"0"	""	""	""	""
"00207959"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00208755"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00219002"	""	""	""	"1"	""	"00006"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	"analysis 612 patients; adopted child"	"F"	""	"(Germany)"	""	"0"	""	""	""	"28902413-Pat12"
"00219003"	""	""	""	"1"	""	"00006"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	"analysis 612 patients"	"M"	""	"(Germany)"	""	"0"	""	""	""	"28902413-Pat13"
"00219004"	""	""	""	"1"	""	"00006"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	"analysis 612 patients"	"F"	""	"(Germany)"	""	"0"	""	""	""	"28902413-Pat14"
"00219005"	""	""	""	"1"	""	"00006"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	"analysis 612 patients"	"F"	""	"(Germany)"	""	"0"	""	""	""	"28902413-Pat15"
"00219006"	""	""	""	"1"	""	"00006"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	"analysis 612 patients"	"F"	""	"(Germany)"	""	"0"	""	""	""	"28902413-Pat16"
"00219007"	""	""	""	"1"	""	"00006"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	"analysis 612 patients"	"F"	""	"(Germany)"	""	"0"	""	""	""	"28902413-Pat17"
"00219008"	""	""	""	"1"	""	"00006"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	"analysis 612 patients"	"M"	""	"(Germany)"	""	"0"	""	""	""	"28902413-Pat18"
"00219066"	""	""	""	"1"	""	"00006"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	"analysis 612 patients"	"F"	""	"(Germany)"	""	"0"	""	""	""	"28902413-Pat76"
"00263934"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00263935"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00263936"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00263937"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00263938"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00263939"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00263940"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00263941"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00263942"	""	""	""	"1"	""	"01364"	""	""	""	""	"Spain"	""	"0"	""	""	""	"?"
"00266170"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00289506"	""	""	""	"16"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289507"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289508"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289509"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289510"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289511"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289512"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289513"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289514"	""	""	""	"19"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295911"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00300010"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat-MFN2-a"
"00300011"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat-MFN2-a"
"00300012"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat-MFN2-a"
"00300013"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00300075"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00300076"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00300077"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00300078"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00300118"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat-MFN2-b"
"00300119"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat-MFN2-b"
"00300137"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat6"
"00300147"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Pat-MFN2-c"
"00300171"	""	""	""	"1"	""	"00006"	"{PMID:Engelfried 2006:16762064}"	""	""	""	"Germany"	""	"0"	""	""	""	"control"
"00300180"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"MFN06-7"
"00300181"	""	""	""	"2"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"family, 2 affected"	""	""	"Spain"	""	"0"	""	""	""	"MFN06-15"
"00300182"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"CMT560"
"00300183"	""	""	""	"2"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"family, 2 affected"	""	""	"Spain"	""	"0"	""	""	""	"MFN06-6"
"00300184"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"MFN06-16"
"00300185"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"CMT1045"
"00300186"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"CMTII-6"
"00300187"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"CMT1088"
"00300188"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Spain"	""	"0"	""	""	""	"CMTII-21"
"00300189"	""	""	""	"3"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"family, 3 affected"	""	""	"Spain"	""	"0"	""	""	""	"MFN06-9"
"00300199"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300200"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300201"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300202"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300203"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300204"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300205"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300206"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300207"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300208"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300209"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300210"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300211"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300212"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300213"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300214"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300215"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300216"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300217"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300218"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300219"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300220"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300221"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300222"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300223"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300224"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300225"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300226"	""	""	""	"1"	""	"00006"	"{PMID:Casasnovas 2010:19889647}"	"analysis controls"	""	""	"Spain"	""	"0"	""	""	""	"controls"
"00300633"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00303290"	""	""	""	"1"	""	"03524"	""	""	"M"	""	""	""	""	""	""	""	""
"00310607"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	""	""	""	""	""
"00324642"	""	""	""	"3"	""	"00006"	"{PMID:Lin 2011:232206013}"	"2-generation family, 3 affected (3M)"	"M"	""	"Taiwan"	""	"0"	""	""	"Han Chinese"	"Fam10"
"00324643"	""	""	""	"2"	""	"00006"	"{PMID:Lin 2011:232206013}"	"2-generation family, 2 affected brothers"	"M"	""	"Taiwan"	""	"0"	""	""	"Han Chinese"	"Fam11"
"00324644"	""	""	""	"1"	""	"00006"	"{PMID:Lin 2011:232206013}"	""	"M"	""	"Taiwan"	""	"0"	""	""	"Han Chinese"	"Fam12"
"00324645"	""	""	""	"1"	""	"00006"	"{PMID:Lin 2011:232206013}"	""	"M"	""	"Taiwan"	""	"0"	""	""	"Han Chinese"	"Fam13"
"00324646"	""	""	""	"2"	""	"00006"	"{PMID:Lin 2011:232206013}"	"2-generation family, affected son/father"	"M"	""	"Taiwan"	""	"0"	""	""	"Han Chinese"	"Fam14"
"00326424"	""	""	""	"1"	""	"00006"	"{DOI:Sharma 2021:10.1101/2021.01.11.426268}"	""	"M"	"no"	"Canada"	""	"0"	""	""	"India"	"patient"
"00326938"	""	""	""	"1"	""	"00091"	""	""	"M"	""	"(France)"	""	"0"	""	""	""	""
"00327463"	""	""	""	"2"	""	"03980"	"Doucette 2021, Submitted"	"Affected sister in a 4 member family. Brother is reportedly affected however we were unable to examine him. Parents are both unaffected, presuming recessive inheritance pattern."	"F"	""	"Canada"	""	""	"Yes"	""	"Middle eastern origin"	"M69 II-1"
"00328383"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	"M"	""	"China"	""	"0"	""	""	""	"690996"
"00372518"	""	""	""	"1"	""	"00006"	"{PMID:Xu 2015:25999675}"	"2-generation family, 1 affected, unaffected carrier parents"	"F"	""	"China"	""	"0"	""	""	""	"RP237"
"00374312"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4506"
"00374394"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4628"
"00379427"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00390029"	""	""	""	"1"	""	"00000"	"{PMID:Ruberto 2020:32507954}"	""	"?"	""	"Italy"	""	"0"	""	""	""	"16"
"00394363"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"CMT1"
"00397839"	""	""	""	"1"	""	"04212"	"{PMID:Kanwal 2021:34193129}"	"4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"Pakistan"	">07y"	"0"	""	""	""	"PaC14:IV-2"
"00398317"	""	""	""	"1"	""	"04188"	"{PMID:Ferese 2021:34354735}"	"2-generation family, 1 affected, unaffected non-carrier mother"	"F"	""	"Italy"	">45y"	"0"	""	""	""	"882"
"00400225"	""	""	""	"1"	"cc_by_4.0;1"	"04188"	"{PMID:Fierro 2020:33187793}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"no"	"Mexico"	">10y"	"0"	""	""	""	"FamPatII7"
"00414380"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"M"	""	"China"	""	"0"	""	""	""	"WHP47"
"00438655"	""	""	""	"1"	""	"00006"	"{PMID:Hamdan 2017:29100083}"	"WGS analysis 197 individuals with unexplained DEE (unaffected parents)"	""	""	"Canada"	""	"0"	""	"pharmaco-resistant seizures"	""	"HSJ0389"
"00454717"	""	""	""	"1"	""	"00095"	"{PMID:Legati 2016:26968897}"	""	"F"	""	""	""	"0"	""	""	""	"NGSP86"
"00462229"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"? (unknown)"	""	"0"	""	""	""	"319752"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 214
"{{individualid}}"	"{{diseaseid}}"
"00000019"	"00138"
"00000019"	"05330"
"00000019"	"05378"
"00003021"	"00198"
"00036119"	"05113"
"00036125"	"05113"
"00036127"	"00198"
"00036130"	"00198"
"00078888"	"05113"
"00078889"	"05113"
"00078897"	"00199"
"00078905"	"00199"
"00078906"	"05176"
"00078907"	"05176"
"00078908"	"05176"
"00078909"	"00199"
"00078910"	"05176"
"00078911"	"05176"
"00078912"	"00198"
"00078913"	"05176"
"00078914"	"05176"
"00078915"	"05176"
"00078916"	"00199"
"00078917"	"05176"
"00078918"	"05176"
"00078919"	"00199"
"00078920"	"00199"
"00078921"	"05156"
"00078922"	"00199"
"00078923"	"05176"
"00078924"	"00199"
"00078925"	"00198"
"00078926"	"05176"
"00078927"	"05176"
"00078928"	"05176"
"00078929"	"05176"
"00078930"	"00199"
"00078931"	"05176"
"00078932"	"05176"
"00078933"	"00198"
"00078934"	"00198"
"00078935"	"05176"
"00078936"	"05176"
"00078937"	"05176"
"00078938"	"05176"
"00078939"	"05176"
"00078940"	"05176"
"00078941"	"05176"
"00078942"	"05176"
"00078943"	"05176"
"00078944"	"05176"
"00078945"	"05176"
"00078947"	"05176"
"00078948"	"05176"
"00078949"	"05176"
"00078950"	"05176"
"00078951"	"05176"
"00078952"	"00199"
"00078953"	"00199"
"00078954"	"05176"
"00078955"	"05176"
"00078956"	"05176"
"00078957"	"00199"
"00078958"	"00199"
"00078959"	"00199"
"00078960"	"05176"
"00078961"	"05176"
"00078962"	"05176"
"00078963"	"05176"
"00078964"	"00199"
"00078965"	"00199"
"00078966"	"00198"
"00078967"	"00199"
"00078968"	"05176"
"00078969"	"00199"
"00078970"	"05176"
"00078971"	"00199"
"00078972"	"00198"
"00078973"	"05176"
"00078974"	"05176"
"00078975"	"05157"
"00078976"	"05176"
"00078977"	"05176"
"00078978"	"00198"
"00078979"	"00199"
"00078980"	"00198"
"00078981"	"00198"
"00078982"	"00199"
"00078983"	"00199"
"00078984"	"00198"
"00078985"	"05176"
"00078986"	"00198"
"00078987"	"00199"
"00078988"	"05176"
"00078989"	"05176"
"00078990"	"00198"
"00078991"	"05176"
"00078992"	"00199"
"00078993"	"00199"
"00078994"	"00199"
"00078995"	"05176"
"00078996"	"05176"
"00078997"	"05176"
"00078998"	"00198"
"00078999"	"05176"
"00079000"	"05176"
"00079001"	"00199"
"00079002"	"00199"
"00080836"	"05176"
"00103965"	"04293"
"00152017"	"05176"
"00219002"	"05113"
"00219003"	"05113"
"00219004"	"05113"
"00219005"	"05113"
"00219006"	"05113"
"00219007"	"05113"
"00219008"	"05113"
"00219066"	"05113"
"00263934"	"00199"
"00263935"	"00199"
"00263936"	"00199"
"00263937"	"00199"
"00263938"	"00199"
"00263939"	"00199"
"00263940"	"00199"
"00263941"	"00199"
"00263942"	"00199"
"00289506"	"00198"
"00289507"	"00198"
"00289508"	"00198"
"00289509"	"00198"
"00289510"	"00198"
"00289511"	"00198"
"00289512"	"00198"
"00289513"	"00198"
"00289514"	"00198"
"00295911"	"00198"
"00300010"	"00199"
"00300011"	"00199"
"00300012"	"05113"
"00300013"	"05113"
"00300075"	"00199"
"00300076"	"05111"
"00300077"	"00199"
"00300078"	"00199"
"00300118"	"00199"
"00300119"	"00199"
"00300137"	"00199"
"00300147"	"05111"
"00300171"	"00000"
"00300180"	"00199"
"00300181"	"00199"
"00300182"	"00199"
"00300183"	"00199"
"00300184"	"00199"
"00300185"	"00199"
"00300186"	"00199"
"00300187"	"00199"
"00300188"	"00199"
"00300189"	"00199"
"00300199"	"00000"
"00300200"	"00000"
"00300201"	"00000"
"00300202"	"00000"
"00300203"	"00000"
"00300204"	"00000"
"00300205"	"00000"
"00300206"	"00000"
"00300207"	"00000"
"00300208"	"00000"
"00300209"	"00000"
"00300210"	"00000"
"00300211"	"00000"
"00300212"	"00000"
"00300213"	"00000"
"00300214"	"00000"
"00300215"	"00000"
"00300216"	"00000"
"00300217"	"00000"
"00300218"	"00000"
"00300219"	"00000"
"00300220"	"00000"
"00300221"	"00000"
"00300222"	"00000"
"00300223"	"00000"
"00300224"	"00000"
"00300225"	"00000"
"00300226"	"00000"
"00300633"	"00198"
"00303290"	"05106"
"00310607"	"05176"
"00324642"	"05113"
"00324643"	"05113"
"00324644"	"05113"
"00324645"	"05113"
"00324646"	"05113"
"00326424"	"00198"
"00326938"	"05684"
"00327463"	"04250"
"00328383"	"04214"
"00372518"	"04214"
"00374312"	"00198"
"00374394"	"00198"
"00379427"	"04214"
"00390029"	"04214"
"00394363"	"04214"
"00397839"	"05113"
"00398317"	"05113"
"00400225"	"00199"
"00414380"	"00198"
"00438655"	"06906"
"00454717"	"05534"
"00462229"	"05176"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 00199, 02342, 04214, 04250, 04293, 05106, 05111, 05113, 05156, 05157, 05176, 05330, 05378, 05534, 05684, 05889, 06906
## Count = 79
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Development/Cognition}}"	"{{Phenotype/Hearing/Problems}}"	"{{Phenotype/Seizures}}"	"{{Phenotype/Vision/Problems}}"	"{{Phenotype/Development/Motor_skills}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/TSC}}"	"{{Phenotype/Development_delay_global/HPO_0001263}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Intellectual_dis/HPO_0001249}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/MRI/brain}}"	"{{Phenotype/Eye/OCT}}"	"{{Phenotype/Vision/Field}}"	"{{Phenotype/Vision/Acuity}}"	"{{Phenotype/Vision/Optic_nerve/Hypoplasia}}"	"{{Phenotype/Vision/Colour}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Habits}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000001872"	"00198"	"00003021"	"00130"	"Isolated (sporadic)"	""	"Myopathy, psychiatric problems"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000058646"	"05113"	"00078888"	"01701"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000058647"	"05113"	"00078889"	"01701"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000058653"	"00199"	"00078897"	"01493"	"Familial, autosomal dominant"	""	""	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000060405"	"05176"	"00080836"	"01758"	"Isolated (sporadic)"	""	"Charcot-Marie-Tooth disease, type 2A2 (OMIM:609260)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000081896"	"04293"	"00103965"	"01164"	"Unknown"	""	"optic atrophy (according to referring physician no signs of a neuropathy, optic atrophy only phenotype)"	""	""	""	""	""	""	""	"45y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"OPA-1"	"optic atrophy"	""	""
"0000155729"	"00198"	"00207959"	"01164"	"Unknown"	""	"HP:0002355 (Difficulty walking); HP:0001324 (Muscle weakness); HP:0003198 (Myopathy); HP:0000508 (Ptosis)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000156359"	"05113"	"00036119"	"01164"	"Unknown"	""	"Charcot-Marie-Tooth disease (CMT)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT-2A"	"Charcot-Marie-Tooth disease (CMT)"	""	""
"0000156360"	"05113"	"00036125"	"01164"	"Unknown"	""	"early onset axonal"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease (CMT)"	""	""
"0000156361"	"00198"	"00036127"	"01164"	"Unknown"	""	"suspected HSMN type 2 and suspected hereditary PNP, family history: positiv (mother affected)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"hereditary motor and sensory neuropathy?"	""	""
"0000156362"	"00198"	"00036130"	"01164"	"Unknown"	""	"axonal sensomotorical neuropathy (cerebelar)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"axonal sensomotorical neuropathy (cerebelar)"	""	""
"0000156905"	"04293"	"00103965"	"01164"	"Unknown"	""	"found in combination with truncating variant in OPA1 which explains phenotype (optic atrophy) in this patient"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"optic atrophy"	""	""
"0000157373"	"00198"	"00208755"	"01164"	"Unknown"	""	"HP:0003198 (Myopathy); HP:0003457 (EMG abnormality)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000167559"	"05113"	"00219002"	"00006"	"Familial, autosomal dominant"	""	"CMT2A2, AR-CMT2, HMSN5/6"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT-2A2"	"Charcot-Marie-Tooth diseae"	""	""
"0000167560"	"05113"	"00219003"	"00006"	"Unknown"	""	"CMT2A2, AR-CMT2, HMSN5/6; no family history"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT-2A2"	"Charcot-Marie-Tooth diseae"	""	""
"0000167561"	"05113"	"00219004"	"00006"	"Unknown"	""	"CMT2A2, AR-CMT2, HMSN5/6; adopted"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT-2A2"	"Charcot-Marie-Tooth diseae"	""	""
"0000167562"	"05113"	"00219005"	"00006"	"Unknown"	""	"CMT2A2, AR-CMT2, HMSN5/6"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT-2A2"	"Charcot-Marie-Tooth diseae"	""	""
"0000167563"	"05113"	"00219006"	"00006"	"Familial, autosomal dominant"	""	"CMT2A2, AR-CMT2, HMSN5/6"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT-2A2"	"Charcot-Marie-Tooth diseae"	""	""
"0000167564"	"05113"	"00219007"	"00006"	"Familial, autosomal dominant"	""	"CMT2A2, AR-CMT2, HMSN5/6"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT-2A2"	"Charcot-Marie-Tooth diseae"	""	""
"0000167565"	"05113"	"00219008"	"00006"	"Unknown"	""	"CMT2A"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT-2A2"	"Charcot-Marie-Tooth diseae"	""	""
"0000167623"	"05113"	"00219066"	"00006"	"Unknown"	""	"AR-CMT2, CMT2A2, HMSN5/6; no family history"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT-2A2"	"Charcot-Marie-Tooth diseae"	""	""
"0000203946"	"00198"	"00266170"	"01164"	"Unknown"	""	"Respiratory insufficiency (HP:0002093); Tetraplegia (HP:0002445); Acute demyelinating polyneuropathy (HP:0007131)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000223387"	"00198"	"00295911"	"01164"	"Unknown"	""	"Abnormality of the eye (HP:0000478); Abnormality of vision (HP:0000504)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000227331"	"00199"	"00300010"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2"	""	""
"0000227332"	"00199"	"00300011"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2"	""	""
"0000227333"	"05113"	"00300012"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT1"	""	""
"0000227334"	"05113"	"00300013"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT1"	""	""
"0000227396"	"00199"	"00300075"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2"	""	""
"0000227397"	"05111"	"00300076"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"hereditar motor neuropathy"	""	""
"0000227398"	"00199"	"00300077"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2"	""	""
"0000227399"	"00199"	"00300078"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2"	""	""
"0000227439"	"00199"	"00300118"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2"	""	""
"0000227440"	"00199"	"00300119"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2"	""	""
"0000227458"	"00199"	"00300137"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2"	""	""
"0000227468"	"05111"	"00300147"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"hereditar motor neuropathy"	""	""
"0000227491"	"00199"	"00078919"	"00006"	"Familial, autosomal dominant"	"58y"	"see paper; ..., predominant axonal neuropathy, normal motor nerve conduction velocity median nerve; positive family history; 48y-weakness lower extremities; reflexes normal in upper extremities, decreased knee, absent ankle, pes cavus/varus"	"48y"	""	""	""	""	""	""	""	"weakness lower extremities"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227492"	"00199"	"00078969"	"00006"	"Familial, autosomal dominant"	"34y"	"see paper; ..., 22y-muscle cramps lower extremities; distal sensory loss legs, reflexes normal in upper extremities, absent Achilles\' tendon reflexes, pes cavus, severely reduced amplitudes compound motor nerve action potentials peroneal and tibial nerves, but preserved motor nerve conduction velocities; mother, brother and sister reportedly have similar symptom"	"22y"	""	""	""	""	""	""	""	"muscle cramps lower extremities"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227493"	"00199"	"00078959"	"00006"	"Unknown"	"32y"	"see paper; ..., distal atrophy legs since childhood, high-grade paresis of peroneus muscles both legs, severe pain both legs and distal sensory loss; electrophysiological studies indicate axonal neuropathy with mildly decreased mNCV; reflexes normal in upper extremities absent in ankles; pes cavus/varus;; no family history"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227494"	"00199"	"00078979"	"00006"	"Familial, autosomal dominant"	"27y"	"see paper; ..., distal weakness, atrophy legs, distal sensory loss, decreased mNCV; 26y-paraesthesia lower extremities; reflexes normal in upper extremities, absent knee, absent ankle, pes cavus/varus; father Parkinson disease and distal neuropathy, paternal grandfather pes cavus"	"26y"	""	""	""	""	""	""	""	"paraesthesia lower extremities"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227495"	"00199"	"00078983"	"00006"	"Familial, autosomal dominant"	"44y"	"see paper; ..., 6y-peripheral neuropathy; distal weakness and atrophy lower and upper extremities, drop feet, steppage gait, absent Achilles\' tendon reflexes absent knee reflexes, distal sensory loss lower extremities, decreased sensitivity to vibration both ankles, pes cavus/varus; deceased father andbrother similar symptoms"	"06y"	""	""	""	""	""	""	""	"peripheral neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227496"	"00199"	"00079002"	"00006"	"Unknown"	"73y"	"see paper; ..., 62y-gait ataxia; symmetric distal weakness, increased distal paresis legs, symmetric distal weakness, increased distal paresis legs; no family history"	"62y"	""	""	""	""	""	""	""	"gait ataxia"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227498"	"00199"	"00078930"	"00006"	"Familial, autosomal dominant"	""	"moderate sensory and motor neuropathy, tremor"	"10y-20y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227504"	"00199"	"00078952"	"00006"	"Familial, autosomal dominant"	""	"mild sensory and motor neuropathy"	"20y-30y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227506"	"00199"	"00078957"	"00006"	"Familial, autosomal dominant"	""	"moderate sensory and motor neuropathy"	"10y-20y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227507"	"00199"	"00078967"	"00006"	"Familial, autosomal dominant"	""	"severe sensory and motor neuropathy"	"20y-30y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227510"	"00199"	"00300180"	"00006"	"Familial, autosomal dominant"	""	"moderate sensory and motor neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227511"	"00199"	"00300181"	"00006"	"Familial, autosomal dominant"	""	"severe sensory and motor neuropathy, optic atrophy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227512"	"00199"	"00300182"	"00006"	"Familial, autosomal dominant"	""	"severe sensory and motor neuropathy, VI neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227513"	"00199"	"00300183"	"00006"	"Familial, autosomal dominant"	""	"moderate sensory and motor neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227514"	"00199"	"00300184"	"00006"	"Familial, autosomal dominant"	""	"moderate sensory and motor neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227515"	"00199"	"00300185"	"00006"	"Familial, autosomal dominant"	""	"mild sensory and motor neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227516"	"00199"	"00300186"	"00006"	"Isolated (sporadic)"	""	"moderate sensory and motor neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227517"	"00199"	"00300187"	"00006"	"Familial, autosomal dominant"	""	"mild sensory and motor neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227518"	"00199"	"00300188"	"00006"	"Isolated (sporadic)"	""	"mild sensory and motor neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227519"	"00199"	"00300189"	"00006"	"Familial, autosomal dominant"	""	"mild sensory and motor neuropathy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2"	"Charcot-Marie-Tooth disease, type 2"	""	""
"0000227944"	"00198"	"00300633"	"01164"	"Unknown"	""	"Demyelinating peripheral neuropathy (HP:0007108)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000243147"	"05113"	"00324642"	"00006"	"Familial, autosomal dominant"	"20y"	"see paper; ..."	"13y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2N"	"Charcot-Marie-Tooth disease"	""	""
"0000243148"	"05113"	"00324643"	"00006"	"Familial, autosomal dominant"	"41y"	"see paper; ..."	"12y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2N"	"Charcot-Marie-Tooth disease"	""	""
"0000243149"	"05113"	"00324644"	"00006"	"Familial, autosomal dominant"	"6y"	"see paper; ..."	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2N"	"Charcot-Marie-Tooth disease"	""	""
"0000243150"	"05113"	"00324645"	"00006"	"Familial, autosomal dominant"	"13y"	"see paper; ..."	"2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2N"	"Charcot-Marie-Tooth disease"	""	""
"0000243151"	"05113"	"00324646"	"00006"	"Familial, autosomal dominant"	"32y"	"see paper; ..."	"8y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2N"	"Charcot-Marie-Tooth disease"	""	""
"0000244887"	"00198"	"00326424"	"00006"	"Familial, autosomal recessive"	"54y"	"see paper; ..., ataxia, optic atrophy, sensorineural hearing loss"	"08y"	""	""	""	""	""	""	""	"visual blurring"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000245402"	"05684"	"00326938"	"00091"	"Unknown"	"23y"	"Optic atrophy (HP:0000648)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000245752"	"05412"	"00327463"	"03980"	"Familial, autosomal recessive"	"29y"	"Fundus findings: Circumscribed central retinal atrophy (Retinal atrophy HP:0001105)\r\n\r\nOcular coherence tomography (OCT): Atrophy of outer retina. Bruch\'s membrane is absent in the central fovea.\r\n\r\nElectroretinogram: Normal ffERG in the right eye; reduced cone flash and flicker in the left eye (Abnormal ERG HP:0000512)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Retinopathy"	""	""
"0000246609"	"04214"	"00328383"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""	""
"0000267833"	"04214"	"00372518"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""	""
"0000269522"	"00198"	"00374312"	"00006"	"Familial, autosomal recessive"	""	"Neuroregression, nystagmus, brachydactyly and failure to thrive, suggestive of Cockayne syndrome"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Cockayne syndrome"	""	""
"0000269604"	"00198"	"00374394"	"00006"	"Familial, autosomal dominant"	""	"Infantile spasms, global developmental delay and focal myoclonic jerk. MRI showed cerebellar polymicrogyria"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"epilepsy"	""	""
"0000273300"	"04214"	"00379427"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""	""
"0000283569"	"04214"	"00390029"	"00000"	"Unknown"	""	"Very pale optic disk, chorioretinal atrophy in macular area, highly altered fundus"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Retinal dystrophy"	""	""	""
"0000287567"	"04214"	"00394363"	"00000"	"Familial, autosomal dominant"	""	"CMT with optic nerve changes, normal electroretinogram but flat flash VEP"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease"	""	""	""
"0000290966"	"05113"	"00397839"	"04212"	"Familial, autosomal recessive"	"07y"	"Vocal cord hoarseness (HP:0001604); delayed motor development (HP:0001270);  \r\n\r\n5y-gait disturbance (HP:0001288); frequent falls during walking (HP:0002359); decreased vibration sense (HP:0002495); decreased position sensation; feet disformities; decreased deep tendon reflexes (HP:0001315); sensory loss (HP:0002936)"	"05y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000291638"	"05113"	"00398317"	"04188"	"Isolated (sporadic)"	"45y"	"hyposthenia (HP:0025406), axonal neuropathy (HP:0003477), no decreased nerve conduction velocity (-HP:0000762)"	"07y"	""	""	""	""	""	""	""	"Asthenia (HP:0025406), Peripheral neuropathy (HP:0009830), no decreased nerve conduction velocity (-HP:0000762)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2A2A"	"Charcot-Marie-Tooth disease"	""	""
"0000293334"	"00199"	"00400225"	"04188"	"Familial, autosomal recessive"	"10y"	"Toe walking (HP:0040083), Pes cavus (HP:0001761), Foot dorsiflexor weakness (HP:0009027), Distal muscle weakness (HP:0002460), Distal amyotrophy (HP:0003693), Gait disturbance (HP:0001288), Inability to walk (HP:0002540), No areflexia (-HP:0001284), Impaired vibratory sensation (HP:0002495), Impaired tactile sensation (HP:0010830), Sensorimotor neuropathy (HP:0007141), Delayed ability to walk (HP:0031936)"	"01y06m"	""	""	""	""	""	""	""	"Delayed ability to walk (HP:0031936)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT2"	"CMT"	""	""
"0000306215"	"00198"	"00414380"	"00000"	"Familial, autosomal dominant"	"28y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Charcot-Marie-Tooth disease type 2A2"	""	""	""
"0000328558"	"06906"	"00438655"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"developmental and epileptic encephalopathy"	""	""
"0000342094"	"05106"	"00303290"	"03524"	"Unknown"	""	"EMG: myopathic abnormalities\r\nToes, ankles contractures"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000343345"	"05534"	"00454717"	"00095"	"Unknown"	""	"pshycomotor delay, cerebellar signs"	"<6m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"complex IV deficiency"	""	""
"0000349729"	"05176"	"00462229"	"01164"	"Unknown"	"5mo"	"Hypotonia, Motor delay, Decreased patellar reflex, Lower limb amyotrophy, Upper limb amyotrophy"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 225
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000019"	"00000019"	"1"	"00004"	""	"2012-05-11 13:18:40"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000002927"	"00003021"	"1"	"00130"	"00008"	"2013-10-02 11:35:03"	""	""	"SEQ"	"DNA"	""	""
"0000036189"	"00036119"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036190"	"00036120"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036191"	"00036121"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036192"	"00036122"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036193"	"00036123"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036194"	"00036124"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036195"	"00036125"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036196"	"00036126"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036197"	"00036127"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036198"	"00036128"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036199"	"00036129"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036200"	"00036130"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036201"	"00036131"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000036202"	"00036132"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000079076"	"00078888"	"1"	"01701"	"01701"	"2016-07-27 13:36:55"	""	""	"SEQ"	"DNA"	""	""
"0000079077"	"00078889"	"1"	"01701"	"01701"	"2016-07-27 13:44:12"	""	""	"SEQ"	"DNA"	""	""
"0000079083"	"00078897"	"1"	"01493"	"01493"	"2012-05-14 17:17:39"	""	""	"SEQ"	"DNA"	""	""
"0000079091"	"00078905"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079092"	"00078906"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079093"	"00078907"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079094"	"00078908"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079095"	"00078909"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079096"	"00078910"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079097"	"00078911"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079098"	"00078912"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079099"	"00078913"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079100"	"00078914"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079101"	"00078915"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079102"	"00078916"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079103"	"00078917"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079104"	"00078918"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079105"	"00078919"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079106"	"00078920"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079107"	"00078921"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079108"	"00078922"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079109"	"00078923"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079110"	"00078924"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079111"	"00078925"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079112"	"00078926"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079113"	"00078927"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079114"	"00078928"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079115"	"00078929"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079116"	"00078930"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079117"	"00078931"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079118"	"00078932"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079119"	"00078933"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079120"	"00078934"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079121"	"00078935"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079122"	"00078936"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079123"	"00078937"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079124"	"00078938"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079125"	"00078939"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079126"	"00078940"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079127"	"00078941"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079128"	"00078942"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079129"	"00078943"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079130"	"00078944"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079131"	"00078945"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079133"	"00078947"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079134"	"00078948"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079135"	"00078949"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079136"	"00078950"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079137"	"00078951"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079138"	"00078952"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079139"	"00078953"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079140"	"00078954"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079141"	"00078955"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079142"	"00078956"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079143"	"00078957"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079144"	"00078958"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079145"	"00078959"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079146"	"00078960"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079147"	"00078961"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079148"	"00078962"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079149"	"00078963"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079150"	"00078964"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079151"	"00078965"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079152"	"00078966"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079153"	"00078967"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079154"	"00078968"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079155"	"00078969"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079156"	"00078970"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079157"	"00078971"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079158"	"00078972"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079159"	"00078973"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079160"	"00078974"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079161"	"00078975"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079162"	"00078976"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079163"	"00078977"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079164"	"00078978"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079165"	"00078979"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079166"	"00078980"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079167"	"00078981"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079168"	"00078982"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079169"	"00078983"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079170"	"00078984"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079171"	"00078985"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079172"	"00078986"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079173"	"00078987"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079174"	"00078988"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079175"	"00078989"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079176"	"00078990"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079177"	"00078991"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079178"	"00078992"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079179"	"00078993"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079180"	"00078994"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079181"	"00078995"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079182"	"00078996"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079183"	"00078997"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079184"	"00078998"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079185"	"00078999"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079186"	"00079000"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079187"	"00079001"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000079188"	"00079002"	"1"	"00006"	"00006"	"2012-11-05 16:53:15"	""	""	"SEQ"	"DNA"	""	""
"0000080948"	"00080836"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000104434"	"00103965"	"1"	"01164"	"01164"	"2017-04-27 10:40:23"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000152871"	"00152017"	"1"	"01741"	"01741"	"2018-02-01 13:55:54"	""	""	"SEQ"	"DNA"	""	""
"0000209004"	"00207959"	"1"	"01164"	"01164"	"2018-12-04 16:43:57"	""	""	"SEQ-NG"	"DNA"	""	""
"0000209804"	"00208755"	"1"	"01164"	"01164"	"2018-12-14 14:03:29"	""	""	"SEQ-NG"	"DNA"	""	""
"0000220074"	"00219002"	"1"	"00006"	"00006"	"2019-02-05 12:23:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted multigene panel"
"0000220075"	"00219003"	"1"	"00006"	"00006"	"2019-02-05 12:23:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted multigene panel"
"0000220076"	"00219004"	"1"	"00006"	"00006"	"2019-02-05 12:23:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted multigene panel"
"0000220077"	"00219005"	"1"	"00006"	"00006"	"2019-02-05 12:23:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted multigene panel"
"0000220078"	"00219006"	"1"	"00006"	"00006"	"2019-02-05 12:23:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted multigene panel"
"0000220079"	"00219007"	"1"	"00006"	"00006"	"2019-02-05 12:23:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted multigene panel"
"0000220080"	"00219008"	"1"	"00006"	"00006"	"2019-02-05 12:23:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted multigene panel"
"0000220138"	"00219066"	"1"	"00006"	"00006"	"2019-02-05 12:23:36"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"targeted multigene panel"
"0000265044"	"00263934"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000265045"	"00263935"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000265046"	"00263936"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000265047"	"00263937"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000265048"	"00263938"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000265049"	"00263939"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000265050"	"00263940"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000265051"	"00263941"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000265052"	"00263942"	"1"	"01364"	"01364"	"2015-09-18 12:05:38"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000267291"	"00266170"	"1"	"01164"	"01164"	"2019-10-15 11:11:31"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000290674"	"00289506"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290675"	"00289507"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290676"	"00289508"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290677"	"00289509"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290678"	"00289510"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290679"	"00289511"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290680"	"00289512"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290681"	"00289513"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290682"	"00289514"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297083"	"00295911"	"1"	"01164"	"01164"	"2020-03-30 10:43:49"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000301126"	"00300010"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301127"	"00300011"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301128"	"00300012"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301129"	"00300013"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301191"	"00300075"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301192"	"00300076"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301193"	"00300077"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301194"	"00300078"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301234"	"00300118"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301235"	"00300119"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301253"	"00300137"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301263"	"00300147"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000301286"	"00300171"	"1"	"00006"	"00006"	"2020-04-23 10:12:55"	""	""	"SEQ"	"DNA"	""	""
"0000301295"	"00300180"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301296"	"00300181"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301297"	"00300182"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301298"	"00300183"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301299"	"00300184"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301300"	"00300185"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301301"	"00300186"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301302"	"00300187"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301303"	"00300188"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301304"	"00300189"	"1"	"00006"	"00006"	"2020-04-23 13:40:48"	""	""	"SEQ"	"DNA"	""	""
"0000301314"	"00300199"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301315"	"00300200"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301316"	"00300201"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301317"	"00300202"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301318"	"00300203"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301319"	"00300204"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301320"	"00300205"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301321"	"00300206"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301322"	"00300207"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301323"	"00300208"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301324"	"00300209"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301325"	"00300210"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301326"	"00300211"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301327"	"00300212"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301328"	"00300213"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301329"	"00300214"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301330"	"00300215"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301331"	"00300216"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301332"	"00300217"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301333"	"00300218"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301334"	"00300219"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301335"	"00300220"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301336"	"00300221"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301337"	"00300222"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301338"	"00300223"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301339"	"00300224"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301340"	"00300225"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301341"	"00300226"	"1"	"00006"	"00006"	"2020-04-23 14:37:26"	""	""	"SEQ"	"DNA"	""	""
"0000301754"	"00300633"	"1"	"01164"	"01164"	"2020-05-04 10:20:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000304414"	"00303290"	"1"	"03524"	"03524"	"2020-06-09 14:58:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000311759"	"00310607"	"1"	"01741"	"01741"	"2020-09-11 11:21:24"	""	""	"SEQ"	"DNA"	""	""
"0000325841"	"00324642"	"1"	"00006"	"00006"	"2020-12-20 16:14:59"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000325842"	"00324643"	"1"	"00006"	"00006"	"2020-12-20 16:14:59"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000325843"	"00324644"	"1"	"00006"	"00006"	"2020-12-20 16:14:59"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000325844"	"00324645"	"1"	"00006"	"00006"	"2020-12-20 16:14:59"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000325845"	"00324646"	"1"	"00006"	"00006"	"2020-12-20 16:14:59"	""	""	"SEQ"	"DNA"	""	"gene panel"
"0000327638"	"00326424"	"1"	"00006"	"00006"	"2021-01-12 13:14:50"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328151"	"00326938"	"1"	"00091"	"00091"	"2021-01-17 08:59:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000328676"	"00327463"	"1"	"03980"	"03980"	"2021-01-21 22:19:35"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329597"	"00328383"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000373751"	"00372518"	"1"	"00006"	"00006"	"2021-05-08 11:27:52"	""	""	"SEQ-NG"	"DNA"	""	""
"0000375506"	"00374312"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375588"	"00374394"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000380627"	"00379427"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000391270"	"00390029"	"1"	"00000"	"03840"	"2021-11-08 12:01:50"	""	""	"arrayCGH"	"DNA"	""	"targeted sequencing with 1 of 4 panels of OFTALMOgenics probes"
"0000395610"	"00394363"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000399081"	"00397839"	"1"	"04212"	"04212"	"2021-12-29 11:20:46"	""	""	"SEQ"	"DNA"	""	""
"0000399563"	"00398317"	"1"	"04188"	"04188"	"2022-01-04 10:53:27"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000401538"	"00400225"	"1"	"04188"	"04188"	"2022-01-26 14:11:59"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000415660"	"00414380"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000440137"	"00438655"	"1"	"00006"	"00006"	"2023-10-21 19:20:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000456330"	"00454717"	"1"	"00095"	"00006"	"2024-09-25 11:50:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000463861"	"00462229"	"1"	"01164"	"01164"	"2025-02-03 12:11:18"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 236
"{{screeningid}}"	"{{geneid}}"
"0000000019"	"AFF2"
"0000000019"	"ALG12"
"0000000019"	"ALG6"
"0000000019"	"B3GLCT"
"0000000019"	"B4GALT1"
"0000000019"	"BBS12"
"0000000019"	"CDK5RAP2"
"0000000019"	"CENPJ"
"0000000019"	"CRBN"
"0000000019"	"DHCR7"
"0000000019"	"EP300"
"0000000019"	"IL1RAPL1"
"0000000019"	"KDM5C"
"0000000019"	"KRAS"
"0000000019"	"MCPH1"
"0000000019"	"MED12"
"0000000019"	"NSD1"
"0000000019"	"NUFIP1"
"0000000019"	"POMT1"
"0000000019"	"RAB3GAP2"
"0000000019"	"RAF1"
"0000000019"	"SATB2"
"0000000019"	"SCN8A"
"0000000019"	"SIL1"
"0000000019"	"TSC1"
"0000002927"	"MFN2"
"0000036189"	"MFN2"
"0000036190"	"MFN2"
"0000036191"	"MFN2"
"0000036192"	"MFN2"
"0000036193"	"MFN2"
"0000036194"	"MFN2"
"0000036195"	"MFN2"
"0000036196"	"MFN2"
"0000036197"	"MFN2"
"0000036198"	"MFN2"
"0000036199"	"MFN2"
"0000036200"	"MFN2"
"0000036201"	"MFN2"
"0000036202"	"MFN2"
"0000079076"	"MFN2"
"0000079077"	"MFN2"
"0000079083"	"MFN2"
"0000079091"	"MFN2"
"0000079092"	"MFN2"
"0000079093"	"MFN2"
"0000079094"	"MFN2"
"0000079095"	"MFN2"
"0000079096"	"MFN2"
"0000079097"	"MFN2"
"0000079098"	"MFN2"
"0000079099"	"MFN2"
"0000079100"	"MFN2"
"0000079101"	"MFN2"
"0000079102"	"MFN2"
"0000079103"	"MFN2"
"0000079104"	"MFN2"
"0000079105"	"MFN2"
"0000079106"	"MFN2"
"0000079107"	"MFN2"
"0000079108"	"MFN2"
"0000079109"	"MFN2"
"0000079110"	"MFN2"
"0000079111"	"MFN2"
"0000079112"	"MFN2"
"0000079113"	"MFN2"
"0000079114"	"MFN2"
"0000079115"	"MFN2"
"0000079116"	"MFN2"
"0000079117"	"MFN2"
"0000079118"	"MFN2"
"0000079119"	"MFN2"
"0000079120"	"MFN2"
"0000079121"	"MFN2"
"0000079122"	"MFN2"
"0000079123"	"MFN2"
"0000079124"	"MFN2"
"0000079125"	"MFN2"
"0000079126"	"MFN2"
"0000079127"	"MFN2"
"0000079128"	"MFN2"
"0000079129"	"MFN2"
"0000079130"	"MFN2"
"0000079131"	"MFN2"
"0000079133"	"MFN2"
"0000079134"	"MFN2"
"0000079135"	"MFN2"
"0000079136"	"MFN2"
"0000079137"	"MFN2"
"0000079138"	"MFN2"
"0000079139"	"MFN2"
"0000079140"	"MFN2"
"0000079141"	"MFN2"
"0000079142"	"MFN2"
"0000079143"	"MFN2"
"0000079144"	"MFN2"
"0000079145"	"MFN2"
"0000079146"	"MFN2"
"0000079147"	"MFN2"
"0000079148"	"MFN2"
"0000079149"	"MFN2"
"0000079150"	"MFN2"
"0000079151"	"MFN2"
"0000079152"	"MFN2"
"0000079153"	"MFN2"
"0000079154"	"MFN2"
"0000079155"	"MFN2"
"0000079156"	"MFN2"
"0000079157"	"MFN2"
"0000079158"	"MFN2"
"0000079159"	"MFN2"
"0000079160"	"MFN2"
"0000079161"	"MFN2"
"0000079162"	"MFN2"
"0000079163"	"MFN2"
"0000079164"	"MFN2"
"0000079165"	"MFN2"
"0000079166"	"MFN2"
"0000079167"	"MFN2"
"0000079168"	"MFN2"
"0000079169"	"MFN2"
"0000079170"	"MFN2"
"0000079171"	"MFN2"
"0000079172"	"MFN2"
"0000079173"	"MFN2"
"0000079174"	"MFN2"
"0000079175"	"MFN2"
"0000079176"	"MFN2"
"0000079177"	"MFN2"
"0000079178"	"MFN2"
"0000079179"	"MFN2"
"0000079180"	"MFN2"
"0000079181"	"MFN2"
"0000079182"	"MFN2"
"0000079183"	"MFN2"
"0000079184"	"MFN2"
"0000079185"	"MFN2"
"0000079186"	"MFN2"
"0000079187"	"MFN2"
"0000079188"	"MFN2"
"0000080948"	"MFN2"
"0000104434"	"MFN2"
"0000104434"	"OPA1"
"0000152871"	"MFN2"
"0000220074"	"MFN2"
"0000220075"	"MFN2"
"0000220076"	"MFN2"
"0000220077"	"MFN2"
"0000220078"	"MFN2"
"0000220079"	"MFN2"
"0000220080"	"MFN2"
"0000220138"	"MFN2"
"0000265044"	"MFN2"
"0000265045"	"MFN2"
"0000265046"	"MFN2"
"0000265047"	"MFN2"
"0000265048"	"MFN2"
"0000265049"	"MFN2"
"0000265050"	"MFN2"
"0000265051"	"MFN2"
"0000265052"	"MFN2"
"0000301126"	"MFN2"
"0000301127"	"MFN2"
"0000301128"	"MFN2"
"0000301129"	"MFN2"
"0000301191"	"MFN2"
"0000301192"	"MFN2"
"0000301193"	"MFN2"
"0000301194"	"MFN2"
"0000301234"	"MFN2"
"0000301235"	"MFN2"
"0000301253"	"MFN2"
"0000301263"	"MFN2"
"0000301286"	"MFN2"
"0000301295"	"MFN2"
"0000301296"	"MFN2"
"0000301297"	"MFN2"
"0000301298"	"MFN2"
"0000301299"	"MFN2"
"0000301300"	"MFN2"
"0000301301"	"MFN2"
"0000301302"	"MFN2"
"0000301303"	"MFN2"
"0000301304"	"MFN2"
"0000301314"	"MFN2"
"0000301315"	"MFN2"
"0000301316"	"MFN2"
"0000301317"	"MFN2"
"0000301318"	"MFN2"
"0000301319"	"MFN2"
"0000301320"	"MFN2"
"0000301321"	"MFN2"
"0000301322"	"MFN2"
"0000301323"	"MFN2"
"0000301324"	"MFN2"
"0000301325"	"MFN2"
"0000301326"	"MFN2"
"0000301327"	"MFN2"
"0000301328"	"MFN2"
"0000301329"	"MFN2"
"0000301330"	"MFN2"
"0000301331"	"MFN2"
"0000301332"	"MFN2"
"0000301333"	"MFN2"
"0000301334"	"MFN2"
"0000301335"	"MFN2"
"0000301336"	"MFN2"
"0000301337"	"MFN2"
"0000301338"	"MFN2"
"0000301339"	"MFN2"
"0000301340"	"MFN2"
"0000301341"	"MFN2"
"0000304414"	"MFN2"
"0000311759"	"MFN2"
"0000325841"	"MFN2"
"0000325842"	"MFN2"
"0000325843"	"MFN2"
"0000325844"	"MFN2"
"0000325845"	"MFN2"
"0000327638"	"MFN2"
"0000328151"	"MFN2"
"0000328151"	"OPA1"
"0000329597"	"CACNA1F"
"0000329597"	"MFN2"
"0000373751"	"BBS2"
"0000375506"	"ERCC6"
"0000375588"	"MFN2"
"0000380627"	"MFN2"
"0000391270"	"NMNAT1"
"0000395610"	"MFN2"
"0000399081"	"MFN2"
"0000399563"	"MFN2"
"0000401538"	"GDAP1"
"0000401538"	"MFN2"
"0000415660"	"MFN2"
"0000463861"	"MFN2"


## 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 = 413
"{{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}}"
"0000000172"	"0"	"50"	"11"	"71155265"	"71155265"	"subst"	"0.00980381"	"00002"	"DHCR7_000185"	"g.71155265C>T"	""	"{PMID:Almomani 2011:21102627}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.71444219C>T"	""	"VUS"	""
"0000021303"	"1"	"70"	"1"	"12049334"	"12049334"	"subst"	"0"	"00130"	"MFN2_000100"	"g.12049334A>G"	""	"{PMID:Neveling 2013:24123792}"	""	""	"Functional validation will be performed"	"Germline"	"?"	""	""	""	""	"g.11989277A>G"	""	"likely pathogenic"	""
"0000063314"	"1"	"90"	"1"	"12056215"	"12056215"	"subst"	"0"	"01164"	"MFN2_000112"	"g.12056215C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996158C>T"	""	"pathogenic"	""
"0000063315"	"1"	"50"	"1"	"12058797"	"12058797"	"subst"	"0"	"01164"	"MFN2_000108"	"g.12058797G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998740G>C"	""	"VUS"	""
"0000063316"	"1"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"01164"	"MFN2_000111"	"g.12064892G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004835G>A"	""	"pathogenic"	""
"0000063317"	"1"	"50"	"1"	"12057401"	"12057401"	"subst"	"7.3097E-5"	"01164"	"MFN2_000107"	"g.12057401T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11997344T>C"	""	"VUS"	""
"0000063318"	"1"	"90"	"1"	"12062157"	"12062158"	"ins"	"0"	"01164"	"MFN2_000110"	"g.12062157_12062158insCATGGCGGCTCGGGAAAACATGGCGGCTCGGGAAAA"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002100_12002101insCATGGCGGCTCGGGAAAACATGGCGGCTCGGGAAAA"	""	"pathogenic"	""
"0000063319"	"1"	"50"	"1"	"12072989"	"12072989"	"subst"	"0"	"01164"	"MFN2_000105"	"g.12072989C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12012932C>T"	""	"VUS"	""
"0000063320"	"1"	"90"	"1"	"12052746"	"12052746"	"subst"	"0"	"01164"	"MFN2_000113"	"g.12052746C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992689C>T"	""	"pathogenic"	""
"0000063321"	"1"	"50"	"1"	"12072054"	"12072054"	"dup"	"0"	"01164"	"MFN2_000103"	"g.12072054dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011997dup"	""	"VUS"	""
"0000063322"	"1"	"50"	"1"	"12072355"	"12072356"	"del"	"0"	"01164"	"MFN2_000104"	"g.12072355_12072356del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12012298_12012299del"	""	"VUS"	""
"0000063323"	"1"	"90"	"1"	"12069692"	"12069692"	"subst"	"0.00687068"	"01164"	"MFN2_000101"	"g.12069692G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12009635G>A"	""	"pathogenic"	""
"0000063324"	"1"	"50"	"1"	"12049209"	"12049209"	"subst"	"0.000935081"	"01164"	"MFN2_000114"	"g.12049209G>T"	""	""	""	""	"c-4-13G>T laut Alamut"	"Germline"	""	""	"0"	""	""	"g.11989152G>T"	""	"VUS"	""
"0000063325"	"1"	"50"	"1"	"12072035"	"12072035"	"subst"	"0"	"01164"	"MFN2_000102"	"g.12072035C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011978C>T"	""	"VUS"	""
"0000063326"	"1"	"50"	"1"	"12062014"	"12062014"	"subst"	"1.21817E-5"	"01164"	"MFN2_000109"	"g.12062014C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001957C>T"	""	"VUS"	""
"0000063327"	"1"	"50"	"1"	"12073157"	"12073157"	"subst"	"0"	"01164"	"MFN2_000106"	"g.12073157C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12013100C>T"	""	"VUS"	""
"0000126806"	"0"	"70"	"1"	"12056286"	"12056286"	"subst"	"0"	"01701"	"MFN2_000115"	"g.12056286A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996229A>C"	""	"likely pathogenic"	""
"0000126807"	"0"	"70"	"1"	"12061829"	"12061829"	"del"	"0"	"01701"	"MFN2_000118"	"g.12061829del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001772del"	""	"likely pathogenic"	""
"0000126808"	"0"	"50"	"1"	"12057461"	"12057461"	"subst"	"0"	"01701"	"MFN2_000117"	"g.12057461C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11997404C>G"	""	"VUS"	""
"0000126809"	"0"	"50"	"1"	"12071606"	"12071606"	"dup"	"0"	"01701"	"MFN2_000116"	"g.12071606dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011549dup"	""	"VUS"	""
"0000126815"	"21"	"90"	"1"	"12062090"	"12062090"	"subst"	"0"	"01493"	"MFN2_000001"	"g.12062090C>T"	"1/25"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002033C>T"	""	"pathogenic"	""
"0000126823"	"0"	"90"	"1"	"12049359"	"12049359"	"subst"	"0"	"00006"	"MFN2_000002"	"g.12049359A>G"	""	"{PMID:Bienfait 2007:17502546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11989302A>G"	""	"pathogenic"	""
"0000126824"	"0"	"90"	"1"	"12052641"	"12052641"	"subst"	"0"	"00006"	"MFN2_000003"	"g.12052641G>T"	""	"{PMID:Zuchner 2004:15064763}"	""	""	""	"Germline"	""	"rs28940296"	"0"	""	""	"g.11992584G>T"	""	"pathogenic"	""
"0000126825"	"0"	"90"	"1"	"12052663"	"12052663"	"subst"	"0"	"00006"	"MFN2_000004"	"g.12052663T>C"	""	"{PMID:Zuchner 2004:15064763}"	""	""	""	"Germline"	""	"rs28940293"	"0"	""	""	"g.11992606T>C"	""	"pathogenic"	""
"0000126826"	"0"	"90"	"1"	"12052711"	"12052711"	"subst"	"0"	"00006"	"MFN2_000005"	"g.12052711T>C"	""	"{PMID:Chung 2006:16835246}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992654T>C"	""	"pathogenic"	""
"0000126827"	"0"	"90"	"1"	"12052711"	"12052711"	"subst"	"0"	"00006"	"MFN2_000006"	"g.12052711T>G"	""	"{PMID:McCorquodale 2011:21258814}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992654T>G"	""	"pathogenic"	""
"0000126828"	"0"	"90"	"1"	"12052716"	"12052716"	"subst"	"0"	"00006"	"MFN2_000007"	"g.12052716C>T"	""	"{PMID:Zuchner 2006:16437557}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992659C>T"	""	"pathogenic"	""
"0000126829"	"0"	"90"	"1"	"12052717"	"12052717"	"subst"	"4.06081E-6"	"00006"	"MFN2_000008"	"g.12052717G>A"	""	"{PMID:Zuchner 2004:15064763}"	""	""	""	"Germline"	""	"rs28940291"	"0"	""	""	"g.11992660G>A"	""	"pathogenic"	""
"0000126830"	"0"	"90"	"1"	"12052728"	"12052728"	"subst"	"0"	"00006"	"MFN2_000009"	"g.12052728A>G"	""	"{PMID:Vallat 2008:18957892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992671A>G"	""	"pathogenic"	""
"0000126831"	"0"	"90"	"1"	"12052735"	"12052735"	"subst"	"0"	"00006"	"MFN2_000010"	"g.12052735C>G"	""	"{PMID:Verhoeven 2006:16714318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992678C>G"	""	"pathogenic"	""
"0000126832"	"0"	"90"	"1"	"12052746"	"12052746"	"subst"	"0"	"00006"	"MFN2_000011"	"g.12052746C>T"	""	"{PMID:Brockmann 2008:18425620}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992689C>T"	""	"pathogenic"	""
"0000126833"	"0"	"90"	"1"	"12056215"	"12056215"	"subst"	"0"	"00006"	"MFN2_000012"	"g.12056215C>T"	""	"{PMID:Kijima 2005:15549395}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996158C>T"	""	"pathogenic"	""
"0000126834"	"0"	"90"	"1"	"12056223"	"12056223"	"subst"	"0"	"00006"	"MFN2_000013"	"g.12056223G>A"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996166G>A"	""	"pathogenic"	""
"0000126835"	"0"	"90"	"1"	"12056269"	"12056269"	"subst"	"0"	"00006"	"MFN2_000014"	"g.12056269C>T"	""	"{PMID:Verhoeven 2006:16714318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996212C>T"	""	"pathogenic"	""
"0000126836"	"0"	"90"	"1"	"12056281"	"12056281"	"subst"	"0"	"00006"	"MFN2_000015"	"g.12056281G>A"	""	"{PMID:Chung 2006:16835246}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996224G>A"	""	"pathogenic"	""
"0000126837"	"1"	"90"	"1"	"12056281"	"12056281"	"subst"	"0"	"00006"	"MFN2_000016"	"g.12056281G>T"	"1/73 cases CMT2"	"{PMID:Engelfried 2006:16762064}"	""	""	"not in 194 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.11996224G>T"	""	"pathogenic (dominant)"	""
"0000126838"	"0"	"90"	"1"	"12056284"	"12056284"	"subst"	"0"	"00006"	"MFN2_000017"	"g.12056284A>G"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996227A>G"	""	"pathogenic"	""
"0000126839"	"0"	"90"	"1"	"12056293"	"12056293"	"subst"	"4.06065E-6"	"00006"	"MFN2_000018"	"g.12056293A>G"	""	"{PMID:Fischer 2011:21892769}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996236A>G"	""	"pathogenic"	""
"0000126840"	"0"	"90"	"1"	"12056296"	"12056296"	"subst"	"0"	"00006"	"MFN2_000019"	"g.12056296G>A"	""	"{PMID:Zhang 2009:20193559}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996239G>A"	""	"pathogenic"	""
"0000126841"	"0"	"90"	"1"	"12056337"	"12056337"	"subst"	"0"	"00006"	"MFN2_000020"	"g.12056337C>T"	""	"{PMID:Klein 2011:21987543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996280C>T"	""	"pathogenic"	""
"0000126842"	"0"	"90"	"1"	"12056368"	"12056368"	"subst"	"0"	"00006"	"MFN2_000021"	"g.12056368G>T"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996311G>T"	""	"pathogenic"	""
"0000126843"	"0"	"90"	"1"	"12057370"	"12057370"	"subst"	"0"	"00006"	"MFN2_000022"	"g.12057370C>T"	""	"{PMID:Nicholson 2008:18458227}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11997313C>T"	""	"pathogenic"	""
"0000126844"	"0"	"90"	"1"	"12057372"	"12057372"	"subst"	"0"	"00006"	"MFN2_000023"	"g.12057372C>G"	""	"{PMID:Zhu 2005:16087932}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11997315C>G"	""	"pathogenic"	""
"0000126845"	"0"	"90"	"1"	"12057372"	"12057372"	"subst"	"0"	"00006"	"MFN2_000024"	"g.12057372C>T"	""	"{PMID:Verhoeven 2006:16714318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11997315C>T"	""	"pathogenic"	""
"0000126846"	"0"	"90"	"1"	"12057373"	"12057373"	"subst"	"0"	"00006"	"MFN2_000025"	"g.12057373A>G"	""	"{PMID:Chung 2006:16835246}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11997316A>G"	""	"pathogenic"	""
"0000126847"	"0"	"90"	"1"	"12057373"	"12057373"	"subst"	"0"	"00006"	"MFN2_000026"	"g.12057373A>T"	""	"{PMID:Marchesi 2011:20951041}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11997316A>T"	""	"pathogenic"	""
"0000126848"	"0"	"90"	"1"	"12058836"	"12058836"	"subst"	"0"	"00006"	"MFN2_000027"	"g.12058836T>G"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.11998779T>G"	""	"pathogenic (dominant)"	""
"0000126849"	"0"	"90"	"1"	"12058844"	"12058844"	"subst"	"0"	"00006"	"MFN2_000028"	"g.12058844C>T"	""	"{PMID:Zuchner 2006:16437557}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998787C>T"	""	"pathogenic"	""
"0000126850"	"0"	"90"	"1"	"12058865"	"12058865"	"subst"	"0"	"00006"	"MFN2_000029"	"g.12058865T>C"	""	"{PMID:Lawson 2005:16043786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998808T>C"	""	"pathogenic"	""
"0000126851"	"0"	"90"	"1"	"12058867"	"12058867"	"subst"	"0"	"00006"	"MFN2_000030"	"g.12058867G>A"	""	"{PMID:Nicholson 2008:18458227}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998810G>A"	""	"pathogenic"	""
"0000126852"	"0"	"90"	"1"	"12058874"	"12058874"	"subst"	"4.06055E-6"	"00006"	"MFN2_000031"	"g.12058874T>C"	""	"{PMID:Vallat 2008:18957892}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998817T>C"	""	"pathogenic"	""
"0000126853"	"0"	"90"	"1"	"12058896"	"12058896"	"subst"	"0"	"00006"	"MFN2_000032"	"g.12058896T>A"	""	"{PMID:Kijima 2005:15549395}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998839T>A"	""	"pathogenic"	""
"0000126854"	"0"	"90"	"1"	"12058921"	"12058921"	"subst"	"0"	"00006"	"MFN2_000033"	"g.12058921A>G"	""	"{PMID:Sole 2009:19909486}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998864A>G"	""	"pathogenic"	""
"0000126855"	"0"	"90"	"1"	"12058934"	"12058934"	"subst"	"8.12123E-6"	"00006"	"MFN2_000034"	"g.12058934C>T"	""	"{PMID:Kijima 2005:15549395}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998877C>T"	""	"pathogenic"	""
"0000126856"	"0"	"90"	"1"	"12059054"	"12059054"	"subst"	"0"	"00006"	"MFN2_000035"	"g.12059054T>A"	""	"{PMID:Amiott 2008:18316077}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998997T>A"	""	"pathogenic"	""
"0000126857"	"0"	"90"	"1"	"12059066"	"12059066"	"subst"	"0"	"00006"	"MFN2_000036"	"g.12059066G>A"	""	"{PMID:Kijima 2005:15549395}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999009G>A"	""	"pathogenic"	""
"0000126858"	"0"	"90"	"1"	"12059078"	"12059078"	"subst"	"0"	"00006"	"MFN2_000037"	"g.12059078C>G"	""	"{PMID:Feely 2011:21508331}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999021C>G"	""	"pathogenic"	""
"0000126859"	"0"	"90"	"1"	"12059082"	"12059082"	"subst"	"0"	"00006"	"MFN2_000038"	"g.12059082C>T"	""	"{PMID:Abe 2011:21326314}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999025C>T"	""	"pathogenic"	""
"0000126860"	"0"	"90"	"1"	"12059084"	"12059084"	"subst"	"1.62422E-5"	"00006"	"MFN2_000039"	"g.12059084C>T"	""	"{PMID:Verhoeven 2006:16714318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999027C>T"	""	"pathogenic"	""
"0000126861"	"0"	"90"	"1"	"12059085"	"12059085"	"subst"	"0.000223332"	"00006"	"MFN2_000040"	"g.12059085G>A"	""	"{PMID:Verhoeven 2006:16714318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999028G>A"	""	"pathogenic"	""
"0000126862"	"0"	"90"	"1"	"12059087"	"12059087"	"subst"	"0"	"00006"	"MFN2_000041"	"g.12059087C>G"	""	"{PMID:Zuchner 2004:15064763}"	""	""	""	"Germline"	""	"rs28940295"	"0"	""	""	"g.11999030C>G"	""	"pathogenic"	""
"0000126863"	"0"	"90"	"1"	"12059088"	"12059088"	"subst"	"0"	"00006"	"MFN2_000042"	"g.12059088C>G"	""	"{PMID:Feely 2011:21508331}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999031C>G"	""	"pathogenic"	""
"0000126865"	"0"	"90"	"1"	"12059112"	"12059112"	"subst"	"4.06062E-6"	"00006"	"MFN2_000044"	"g.12059112G>T"	""	"{PMID:Ajroud-Driss 2009:19350291}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999055G>T"	""	"pathogenic"	""
"0000126866"	"0"	"90"	"1"	"12059123"	"12059123"	"subst"	"0"	"00006"	"MFN2_000045"	"g.12059123T>C"	""	"{PMID:Chung 2006:16835246}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999066T>C"	""	"pathogenic"	""
"0000126867"	"0"	"90"	"1"	"12061459"	"12061459"	"subst"	"0"	"00006"	"MFN2_000046"	"g.12061459T>G"	""	"{PMID:Lawson 2005:16043786}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001402T>G"	""	"pathogenic"	""
"0000126868"	"0"	"90"	"1"	"12061462"	"12061462"	"subst"	"2.03952E-5"	"00006"	"MFN2_000047"	"g.12061462G>A"	""	"{PMID:Kijima 2005:15549395}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001405G>A"	""	"pathogenic"	""
"0000126869"	"0"	"90"	"1"	"12061468"	"12061468"	"subst"	"0"	"00006"	"MFN2_000048"	"g.12061468A>G"	""	"{PMID:Zuchner 2006:16437557}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001411A>G"	""	"pathogenic"	""
"0000126870"	"1"	"90"	"1"	"12061469"	"12061469"	"subst"	"0"	"00006"	"MFN2_000049"	"g.12061469G>C"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001412G>C"	""	"pathogenic (dominant)"	""
"0000126871"	"0"	"90"	"1"	"12061470"	"12061470"	"subst"	"0"	"00006"	"MFN2_000050"	"g.12061470C>T"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001413C>T"	""	"pathogenic"	""
"0000126872"	"0"	"90"	"1"	"12061471"	"12061471"	"subst"	"0"	"00006"	"MFN2_000051"	"g.12061471A>G"	""	"{PMID:Verhoeven 2006:16714318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001414A>G"	""	"pathogenic"	""
"0000126873"	"0"	"90"	"1"	"12061480"	"12061480"	"subst"	"0"	"00006"	"MFN2_000052"	"g.12061480G>A"	""	"{PMID:Zuchner 2004:15064763}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001423G>A"	""	"pathogenic"	""
"0000126874"	"0"	"90"	"1"	"12061492"	"12061492"	"subst"	"0"	"00006"	"MFN2_000053"	"g.12061492T>A"	""	"{PMID:Kijima 2005:15549395}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001435T>A"	""	"pathogenic"	""
"0000126875"	"1"	"90"	"1"	"12061533"	"12061533"	"subst"	"0.00207541"	"00006"	"MFN2_000054"	"g.12061533G>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs41278630"	"0"	""	""	"g.12001476G>A"	""	"pathogenic (dominant)"	""
"0000126876"	"0"	"90"	"1"	"12061563"	"12061563"	"subst"	"0"	"00006"	"MFN2_000055"	"g.12061563G>T"	""	"{PMID:Polke 2011:21715711}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001506G>T"	""	"pathogenic"	""
"0000126877"	"0"	"90"	"1"	"12062040"	"12062040"	"subst"	"0"	"00006"	"MFN2_000056"	"g.12062040A>T"	"1/73 cases CMT2"	"{PMID:Engelfried 2006:16762064}"	""	""	"variant not in 200 control chromosomes"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.12001983A>T"	""	"pathogenic (dominant)"	""
"0000126878"	"0"	"90"	"1"	"12062048"	"12062048"	"subst"	"0"	"00006"	"MFN2_000057"	"g.12062048T>C"	""	"{PMID:Cho 2007:17309650}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001991T>C"	""	"pathogenic"	""
"0000126879"	"0"	"90"	"1"	"12062071"	"12062071"	"subst"	"0"	"00006"	"MFN2_000058"	"g.12062071G>C"	""	"{PMID:Kijima 2005:15549395}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002014G>C"	""	"pathogenic"	""
"0000126880"	"0"	"90"	"1"	"12062081"	"12062081"	"subst"	"0"	"00006"	"MFN2_000059"	"g.12062081C>T"	""	"{PMID:Zuchner 2006:16437557}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002024C>T"	""	"pathogenic"	""
"0000126881"	"0"	"90"	"1"	"12062085"	"12062085"	"subst"	"2.43633E-5"	"00006"	"MFN2_000060"	"g.12062085C>T"	""	"{PMID:Chung 2006:16835246}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002028C>T"	""	"pathogenic"	""
"0000126882"	"0"	"90"	"1"	"12062091"	"12062091"	"subst"	"0"	"00006"	"MFN2_000061"	"g.12062091G>A"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002034G>A"	""	"pathogenic"	""
"0000126883"	"0"	"90"	"1"	"12062091"	"12062091"	"subst"	"0"	"00006"	"MFN2_000062"	"g.12062091G>C"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002034G>C"	""	"pathogenic"	""
"0000126884"	"0"	"90"	"1"	"12062126"	"12062126"	"subst"	"0"	"00006"	"MFN2_000063"	"g.12062126A>C"	""	"{PMID:McCorquodale 2011:21258814}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002069A>C"	""	"pathogenic"	""
"0000126885"	"1"	"90"	"1"	"12062126"	"12062126"	"subst"	"0"	"00006"	"MFN2_000064"	"g.12062126A>G"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002069A>G"	""	"pathogenic (dominant)"	""
"0000126886"	"0"	"90"	"1"	"12062127"	"12062127"	"subst"	"0"	"00006"	"MFN2_000065"	"g.12062127T>C"	""	"{PMID:Chung 2006:16835246}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002070T>C"	""	"pathogenic"	""
"0000126887"	"1"	"90"	"1"	"12062128"	"12062128"	"subst"	"0"	"00006"	"MFN2_000066"	"g.12062128G>A"	""	"{PMID:Engelfried 2006:16762064}"	""	""	"not in 190 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.12002071G>A"	""	"pathogenic (dominant)"	""
"0000126888"	"0"	"90"	"1"	"12062132"	"12062132"	"subst"	"0"	"00006"	"MFN2_000067"	"g.12062132T>C"	""	"{PMID:Brockmann 2008:18425620}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002075T>C"	""	"pathogenic"	""
"0000126889"	"0"	"90"	"1"	"12062148"	"12062148"	"subst"	"0"	"00006"	"MFN2_000068"	"g.12062148C>T"	""	"{PMID:Muglia 2007:17940179}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002091C>T"	""	"pathogenic"	""
"0000126890"	"0"	"90"	"1"	"12064056"	"12064056"	"subst"	"0"	"00006"	"MFN2_000069"	"g.12064056T>C"	""	"{PMID:Nicholson 2008:18458227}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12003999T>C"	""	"pathogenic"	""
"0000126891"	"0"	"90"	"1"	"12064057"	"12064057"	"subst"	"0"	"00006"	"MFN2_000070"	"g.12064057G>T"	""	"{PMID:Feely 2011:21508331}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004000G>T"	""	"pathogenic"	""
"0000126892"	"0"	"90"	"1"	"12064086"	"12064086"	"subst"	"0"	"00006"	"MFN2_000071"	"g.12064086C>T"	""	"{PMID:Verhoeven 2006:16714318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004029C>T"	""	"pathogenic"	""
"0000126893"	"0"	"90"	"1"	"12064087"	"12064087"	"subst"	"0"	"00006"	"MFN2_000072"	"g.12064087G>C"	""	"{PMID:Baets 2011:21840889}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004030G>C"	""	"pathogenic"	""
"0000126894"	"0"	"90"	"1"	"12064140"	"12064140"	"subst"	"0"	"00006"	"MFN2_000073"	"g.12064140C>T"	""	"{PMID:Kijima 2005:15549395}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004083C>T"	""	"pathogenic"	""
"0000126895"	"0"	"90"	"1"	"12064159"	"12064159"	"subst"	"0"	"00006"	"MFN2_000074"	"g.12064159A>G"	""	"{PMID:Kijima 2005:15549395}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004102A>G"	""	"pathogenic"	""
"0000126896"	"0"	"90"	"1"	"12064645"	"12064645"	"subst"	"8.1211E-6"	"00006"	"MFN2_000075"	"g.12064645C>T"	""	"{PMID:Chung 2008:18490623}"	""	""	""	"Germline"	""	"rs78658090"	"0"	""	""	"g.12004588C>T"	""	"pathogenic"	""
"0000126897"	"1"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	"1/73 cases CMT2"	"{PMID:Engelfried 2006:16762064}"	""	""	"variant in 1/260 control chromosomes"	"Germline"	""	"rs138382758"	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000126898"	"0"	"90"	"1"	"12065828"	"12065828"	"subst"	"0"	"00006"	"MFN2_000077"	"g.12065828G>C"	""	"{PMID:Polke 2011:21715711}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12005771G>C"	""	"pathogenic"	""
"0000126899"	"0"	"90"	"1"	"12065981"	"12065981"	"subst"	"2.43665E-5"	"00006"	"MFN2_000078"	"g.12065981A>G"	""	"{PMID:Braathen 2010:20350294}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12005924A>G"	""	"pathogenic"	""
"0000126900"	"0"	"90"	"1"	"12067231"	"12067231"	"subst"	"0"	"00006"	"MFN2_000079"	"g.12067231T>C"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12007174T>C"	""	"pathogenic"	""
"0000126901"	"1"	"90"	"1"	"12069692"	"12069692"	"subst"	"0.00687068"	"00006"	"MFN2_000080"	"g.12069692G>A"	"1/73 cases CMT2"	"{PMID:Engelfried 2006:16762064}"	""	""	"variant not  in 212 control chromosomes"	"Germline"	""	"rs142271930"	"0"	""	""	"g.12009635G>A"	""	"pathogenic (dominant)"	""
"0000126902"	"0"	"90"	"1"	"12069698"	"12069698"	"subst"	"0.000251754"	"00006"	"MFN2_000081"	"g.12069698C>T"	""	"{PMID:Nicholson 2008:18458227}"	""	""	""	"Germline"	""	"rs119103267"	"0"	""	""	"g.12009641C>T"	""	"pathogenic"	""
"0000126903"	"0"	"90"	"1"	"12069708"	"12069708"	"subst"	"0"	"00006"	"MFN2_000082"	"g.12069708T>C"	""	"{PMID:Verhoeven 2006:16714318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12009651T>C"	""	"pathogenic"	""
"0000126904"	"0"	"90"	"1"	"12069719"	"12069719"	"subst"	"4.06058E-6"	"00006"	"MFN2_000083"	"g.12069719A>G"	""	"{PMID:Benedetti 2010:21149811}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12009662A>G"	""	"pathogenic"	""
"0000126905"	"0"	"90"	"1"	"12069725"	"12069725"	"subst"	"0.000105575"	"00006"	"MFN2_000084"	"g.12069725G>A"	""	"{PMID:Braathen 2010:20350294}"	""	""	""	"Germline"	""	"rs144860227"	"0"	""	""	"g.12009668G>A"	""	"pathogenic"	""
"0000126906"	"0"	"90"	"1"	"12069750"	"12069750"	"subst"	"0"	"00006"	"MFN2_000085"	"g.12069750T>C"	""	"{PMID:Abe 2011:21326314}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12009693T>C"	""	"pathogenic"	""
"0000126907"	"0"	"90"	"1"	"12069779"	"12069779"	"subst"	"0"	"00006"	"MFN2_000086"	"g.12069779C>G"	""	"{PMID:Amiott 2008:18316077}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12009722C>G"	""	"pathogenic"	""
"0000126908"	"0"	"90"	"1"	"12071561"	"12071561"	"subst"	"0"	"00006"	"MFN2_000087"	"g.12071561C>T"	""	"{PMID:Benedetti 2010:21149811}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011504C>T"	""	"pathogenic"	""
"0000126909"	"0"	"90"	"1"	"12071567"	"12071567"	"subst"	"0"	"00006"	"MFN2_000088"	"g.12071567G>C"	""	"{PMID:Zuchner 2004:15064763}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011510G>C"	""	"pathogenic"	""
"0000126910"	"0"	"90"	"1"	"12071568"	"12071568"	"subst"	"0"	"00006"	"MFN2_000089"	"g.12071568G>C"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011511G>C"	""	"pathogenic"	""
"0000126911"	"0"	"90"	"1"	"12071582"	"12071582"	"subst"	"0"	"00006"	"MFN2_000090"	"g.12071582T>C"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011525T>C"	""	"pathogenic"	""
"0000126912"	"0"	"90"	"1"	"12071588"	"12071588"	"subst"	"0"	"00006"	"MFN2_000091"	"g.12071588T>C"	""	"{PMID:Calvo 2009:20008656}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011531T>C"	""	"pathogenic"	""
"0000126913"	"0"	"90"	"1"	"12071597"	"12071597"	"subst"	"0"	"00006"	"MFN2_000092"	"g.12071597A>C"	""	"{PMID:Feely 2011:21508331}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011540A>C"	""	"pathogenic"	""
"0000126914"	"0"	"90"	"1"	"12071599"	"12071599"	"subst"	"0"	"00006"	"MFN2_000093"	"g.12071599C>T"	""	"{PMID:Verhoeven 2006:16714318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011542C>T"	""	"pathogenic"	""
"0000126915"	"0"	"90"	"1"	"12071604"	"12071604"	"subst"	"0"	"00006"	"MFN2_000094"	"g.12071604C>A"	""	"{PMID:Feely 2011:21508331}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011547C>A"	""	"pathogenic"	""
"0000126916"	"0"	"90"	"1"	"12049338"	"12049340"	"del"	"0"	"00006"	"MFN2_000095"	"g.12049338_12049340del"	""	"{PMID:Polke 2011:21715711}"	""	"113_115delAGA"	""	"Germline"	""	""	"0"	""	""	"g.11989281_11989283del"	""	"pathogenic"	""
"0000126917"	"0"	"90"	"1"	"12062134"	"12062142"	"del"	"0"	"00006"	"MFN2_000096"	"g.12062134_12062142del"	""	"{PMID:Verhoeven 2006:16714318}"	""	"1134_1142delCCTGCACAT"	""	"Germline"	""	""	"0"	""	""	"g.12002077_12002085del"	""	"pathogenic"	""
"0000126918"	"0"	"90"	"1"	"12062157"	"12062158"	"inv"	"0"	"00006"	"MFN2_000097"	"g.12062157_12062158inv"	""	"{PMID:Verhoeven 2006:16714318}"	""	"1157_1158delAGinsCT"	""	"Germline"	""	""	"0"	""	""	"g.12002100_12002101inv"	""	"pathogenic"	""
"0000126919"	"0"	"90"	"1"	"12069699"	"12069707"	"del"	"0"	"00006"	"MFN2_000098"	"g.12069699_12069707del"	""	"{PMID:McCorquodale 2011:21258814}"	""	"2120delGGGAGAACC"	""	"Germline"	""	""	"0"	""	""	"g.12009642_12009650del"	""	"likely pathogenic"	""
"0000126920"	"1"	"90"	"1"	"12071606"	"12071606"	"dup"	"0"	"00006"	"MFN2_000099"	"g.12071606dup"	"1/73 cases CMT2"	"{PMID:Engelfried 2006:16762064}"	""	"2258dupT"	"variant not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.12011549dup"	""	"pathogenic (dominant)"	""
"0000130034"	"0"	"90"	"1"	"12052686"	"12052686"	"subst"	"0"	"01758"	"MFN2_000119"	"g.12052686A>G"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.11992629A>G"	""	"pathogenic"	"ACMG"
"0000169168"	"0"	"50"	"1"	"12057420"	"12057420"	"subst"	"4.06081E-6"	"01164"	"MFN2_000120"	"g.12057420G>A"	""	""	""	""	"according to referring physician no signs of a neuropathy, optic atrophy only phenotype"	"Germline"	""	"rs863224064"	"0"	""	""	"g.11997363G>A"	""	"VUS"	"ACMG"
"0000245496"	"0"	"10"	"1"	"12040324"	"12040324"	"subst"	"0"	"02330"	"MFN2_000121"	"g.12040324A>G"	""	""	""	"MFN2(NM_014874.4):c.-367A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11980267A>G"	""	"benign"	""
"0000245497"	"0"	"10"	"1"	"12062205"	"12062205"	"subst"	"0.652742"	"02330"	"MFN2_000136"	"g.12062205A>G"	""	""	""	"MFN2(NM_014874.3):c.1160+45A>G, MFN2(NM_014874.4):c.1160+45A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002148A>G"	""	"benign"	""
"0000245498"	"0"	"10"	"1"	"12071680"	"12071680"	"subst"	"0"	"02330"	"MFN2_000144"	"g.12071680A>G"	""	""	""	"MFN2(NM_014874.3):c.*58A>G, MFN2(NM_014874.4):c.*58A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12011623A>G"	""	"benign"	""
"0000245547"	"0"	"70"	"1"	"12058916"	"12058916"	"subst"	"0"	"02330"	"MFN2_000128"	"g.12058916A>C"	""	""	""	"MFN2(NM_014874.4):c.689A>C (p.E230A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11998859A>C"	""	"likely pathogenic"	""
"0000245557"	"0"	"90"	"1"	"12062040"	"12062040"	"subst"	"0"	"02330"	"MFN2_000056"	"g.12062040A>T"	""	""	""	"MFN2(NM_014874.4):c.1040A>T (p.E347V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001983A>T"	""	"pathogenic"	""
"0000245567"	"0"	"90"	"1"	"12061468"	"12061468"	"subst"	"0"	"02330"	"MFN2_000048"	"g.12061468A>G"	""	""	""	"MFN2(NM_014874.4):c.827A>G (p.Q276R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001411A>G"	""	"pathogenic"	""
"0000245568"	"0"	"90"	"1"	"12062157"	"12062157"	"subst"	"0"	"02330"	"MFN2_000134"	"g.12062157A>C"	""	""	""	"MFN2(NM_014874.4):c.1157A>C (p.Q386P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002100A>C"	""	"pathogenic"	""
"0000255117"	"0"	"30"	"1"	"12056309"	"12056309"	"subst"	"0.00494587"	"01943"	"MFN2_000125"	"g.12056309A>T"	""	""	""	"MFN2(NM_014874.3):c.408A>T (p.V136=), MFN2(NM_014874.4):c.408A>T (p.V136=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11996252A>T"	""	"likely benign"	""
"0000279685"	"0"	"10"	"1"	"12040479"	"12040479"	"subst"	"0"	"02330"	"MFN2_000122"	"g.12040479T>C"	""	""	""	"MFN2(NM_014874.4):c.-212T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11980422T>C"	""	"benign"	""
"0000279686"	"0"	"30"	"1"	"12049209"	"12049209"	"subst"	"0.000935081"	"02330"	"MFN2_000114"	"g.12049209G>T"	""	""	""	"MFN2(NM_014874.3):c.-4-13G>T, MFN2(NM_014874.4):c.-4-13G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11989152G>T"	""	"likely benign"	""
"0000279687"	"0"	"10"	"1"	"12072518"	"12072518"	"subst"	"0"	"02330"	"MFN2_000145"	"g.12072518G>C"	""	""	""	"MFN2(NM_014874.4):c.*896G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12012461G>C"	""	"benign"	""
"0000279688"	"0"	"10"	"1"	"12072534"	"12072534"	"subst"	"0"	"02330"	"MFN2_000146"	"g.12072534C>T"	""	""	""	"MFN2(NM_014874.4):c.*912C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12012477C>T"	""	"benign"	""
"0000279689"	"0"	"10"	"1"	"12062020"	"12062020"	"subst"	"0.0109353"	"02330"	"MFN2_000133"	"g.12062020G>A"	""	""	""	"MFN2(NM_014874.4):c.1039-19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001963G>A"	""	"benign"	""
"0000279690"	"0"	"90"	"1"	"12062048"	"12062048"	"subst"	"0"	"02330"	"MFN2_000057"	"g.12062048T>C"	""	""	""	"MFN2(NM_014874.4):c.1048T>C (p.S350P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001991T>C"	""	"pathogenic"	""
"0000279691"	"0"	"90"	"1"	"12062071"	"12062071"	"subst"	"0"	"02330"	"MFN2_000058"	"g.12062071G>C"	""	""	""	"MFN2(NM_014874.4):c.1071G>C (p.K357N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002014G>C"	""	"pathogenic"	""
"0000279692"	"0"	"90"	"1"	"12062081"	"12062081"	"subst"	"0"	"02330"	"MFN2_000059"	"g.12062081C>T"	""	""	""	"MFN2(NM_014874.4):c.1081C>T (p.H361Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002024C>T"	""	"pathogenic"	""
"0000279693"	"0"	"90"	"1"	"12062085"	"12062085"	"subst"	"2.43633E-5"	"02330"	"MFN2_000060"	"g.12062085C>T"	""	""	""	"MFN2(NM_014874.4):c.1085C>T (p.T362M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002028C>T"	""	"pathogenic"	""
"0000279694"	"0"	"90"	"1"	"12062090"	"12062090"	"subst"	"0"	"02330"	"MFN2_000001"	"g.12062090C>T"	""	""	""	"MFN2(NM_014874.4):c.1090C>T (p.R364W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002033C>T"	""	"pathogenic"	""
"0000279695"	"0"	"70"	"1"	"12062127"	"12062127"	"subst"	"0"	"02330"	"MFN2_000065"	"g.12062127T>C"	""	""	""	"MFN2(NM_014874.4):c.1127T>C (p.M376T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002070T>C"	""	"likely pathogenic"	""
"0000279696"	"0"	"90"	"1"	"12062128"	"12062128"	"subst"	"0"	"02330"	"MFN2_000066"	"g.12062128G>A"	""	""	""	"MFN2(NM_014874.4):c.1128G>A (p.M376I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002071G>A"	""	"pathogenic"	""
"0000279697"	"0"	"90"	"1"	"12062148"	"12062148"	"subst"	"0"	"02330"	"MFN2_000068"	"g.12062148C>T"	""	""	""	"MFN2(NM_014874.4):c.1148C>T (p.A383V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002091C>T"	""	"pathogenic"	""
"0000279698"	"0"	"90"	"1"	"12062158"	"12062158"	"subst"	"0"	"02330"	"MFN2_000135"	"g.12062158G>T"	""	""	""	"MFN2(NM_014874.4):c.1158G>T (p.Q386H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12002101G>T"	""	"pathogenic"	""
"0000279699"	"0"	"90"	"1"	"12064086"	"12064086"	"subst"	"0"	"02330"	"MFN2_000071"	"g.12064086C>T"	""	""	""	"MFN2(NM_014874.4):c.1198C>T (p.R400*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12004029C>T"	""	"pathogenic"	""
"0000279700"	"0"	"90"	"1"	"12064140"	"12064140"	"subst"	"0"	"02330"	"MFN2_000073"	"g.12064140C>T"	""	""	""	"MFN2(NM_014874.4):c.1252C>T (p.R418*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12004083C>T"	""	"pathogenic"	""
"0000279701"	"0"	"30"	"1"	"12064941"	"12064941"	"subst"	"0.000859346"	"02330"	"MFN2_000137"	"g.12064941G>A"	""	""	""	"MFN2(NM_014874.3):c.1452G>A (p.T484=), MFN2(NM_014874.4):c.1452G>A (p.T484=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12004884G>A"	""	"likely benign"	""
"0000279702"	"0"	"10"	"1"	"12065913"	"12065913"	"subst"	"0.000803996"	"02330"	"MFN2_000139"	"g.12065913C>T"	""	""	""	"MFN2(NM_014874.3):c.1641C>T (p.L547=), MFN2(NM_014874.4):c.1641C>T (p.L547=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12005856C>T"	""	"benign"	""
"0000279703"	"0"	"50"	"1"	"12065959"	"12065959"	"subst"	"4.46675E-5"	"02330"	"MFN2_000140"	"g.12065959C>T"	""	""	""	"MFN2(NM_014874.4):c.1687C>T (p.R563C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12005902C>T"	""	"VUS"	""
"0000279704"	"0"	"10"	"1"	"12049409"	"12049409"	"subst"	"9.35735E-5"	"02330"	"MFN2_000124"	"g.12049409G>A"	""	""	""	"MFN2(NM_014874.4):c.175+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11989352G>A"	""	"benign"	""
"0000279705"	"0"	"10"	"1"	"12066657"	"12066657"	"subst"	"9.34033E-5"	"02330"	"MFN2_000141"	"g.12066657G>A"	""	""	""	"MFN2(NM_014874.3):c.1779G>A (p.S593=), MFN2(NM_014874.4):c.1779G>A (p.S593=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12006600G>A"	""	"benign"	""
"0000279706"	"0"	"90"	"1"	"12052641"	"12052641"	"subst"	"0"	"02330"	"MFN2_000003"	"g.12052641G>T"	""	""	""	"MFN2(NM_014874.4):c.205G>T (p.V69F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11992584G>T"	""	"pathogenic"	""
"0000279707"	"0"	"10"	"1"	"12069692"	"12069692"	"subst"	"0.00687068"	"02330"	"MFN2_000080"	"g.12069692G>A"	""	""	""	"MFN2(NM_014874.3):c.2113G>A (p.V705I), MFN2(NM_014874.4):c.2113G>A (p.V705I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12009635G>A"	""	"benign"	""
"0000279708"	"0"	"90"	"1"	"12069708"	"12069708"	"subst"	"0"	"02330"	"MFN2_000082"	"g.12069708T>C"	""	""	""	"MFN2(NM_014874.4):c.2129T>C (p.L710P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12009651T>C"	""	"pathogenic"	""
"0000279709"	"0"	"10"	"1"	"12069798"	"12069798"	"subst"	"0.0616232"	"02330"	"MFN2_000142"	"g.12069798T>C"	""	""	""	"MFN2(NM_014874.4):c.2204+15T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12009741T>C"	""	"benign"	""
"0000279710"	"0"	"90"	"1"	"12071567"	"12071567"	"subst"	"0"	"02330"	"MFN2_000088"	"g.12071567G>C"	""	""	""	"MFN2(NM_014874.4):c.2219G>C (p.W740S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12011510G>C"	""	"pathogenic"	""
"0000279711"	"0"	"90"	"1"	"12071606"	"12071606"	"dup"	"0"	"02330"	"MFN2_000143"	"g.12071606dup"	""	""	""	"MFN2(NM_014874.3):c.2258dupT (p.Q754Afs*9), MFN2(NM_014874.4):c.2258dup (p.(Gln754AlafsTer9)), MFN2(NM_014874.4):c.2258dupT (p.Q754Afs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12011549dup"	""	"pathogenic"	""
"0000279712"	"0"	"90"	"1"	"12052663"	"12052663"	"subst"	"0"	"02330"	"MFN2_000004"	"g.12052663T>C"	""	""	""	"MFN2(NM_014874.4):c.227T>C (p.L76P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11992606T>C"	""	"pathogenic"	""
"0000279713"	"0"	"90"	"1"	"12052711"	"12052711"	"subst"	"0"	"02330"	"MFN2_000005"	"g.12052711T>C"	""	""	""	"MFN2(NM_014874.4):c.275T>C (p.L92P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11992654T>C"	""	"pathogenic"	""
"0000279714"	"0"	"90"	"1"	"12052716"	"12052716"	"subst"	"0"	"02330"	"MFN2_000007"	"g.12052716C>T"	""	""	""	"MFN2(NM_014874.4):c.280C>T (p.R94W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11992659C>T"	""	"pathogenic"	""
"0000279715"	"0"	"90"	"1"	"12052717"	"12052717"	"subst"	"4.06081E-6"	"02330"	"MFN2_000008"	"g.12052717G>A"	""	""	""	"MFN2(NM_014874.4):c.281G>A (p.R94Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11992660G>A"	""	"pathogenic"	""
"0000279716"	"0"	"90"	"1"	"12052735"	"12052735"	"subst"	"0"	"02330"	"MFN2_000010"	"g.12052735C>G"	""	""	""	"MFN2(NM_014874.4):c.299C>G (p.A100G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11992678C>G"	""	"pathogenic"	""
"0000279717"	"0"	"90"	"1"	"12056215"	"12056215"	"subst"	"0"	"02330"	"MFN2_000012"	"g.12056215C>T"	""	""	""	"MFN2(NM_014874.4):c.314C>T (p.T105M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11996158C>T"	""	"pathogenic"	""
"0000279718"	"0"	"90"	"1"	"12056269"	"12056269"	"subst"	"0"	"02330"	"MFN2_000014"	"g.12056269C>T"	""	""	""	"MFN2(NM_014874.4):c.368C>T (p.P123L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11996212C>T"	""	"pathogenic"	""
"0000279719"	"0"	"90"	"1"	"12056281"	"12056281"	"subst"	"0"	"02330"	"MFN2_000015"	"g.12056281G>A"	""	""	""	"MFN2(NM_014874.4):c.380G>A (p.G127D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11996224G>A"	""	"pathogenic"	""
"0000279720"	"0"	"90"	"1"	"12056281"	"12056281"	"subst"	"0"	"02330"	"MFN2_000016"	"g.12056281G>T"	""	""	""	"MFN2(NM_014874.4):c.380G>T (p.G127V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11996224G>T"	""	"pathogenic"	""
"0000279721"	"0"	"90"	"1"	"12057372"	"12057372"	"subst"	"0"	"02330"	"MFN2_000023"	"g.12057372C>G"	""	""	""	"MFN2(NM_014874.4):c.493C>G (p.H165D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11997315C>G"	""	"pathogenic"	""
"0000279722"	"0"	"90"	"1"	"12057372"	"12057372"	"subst"	"0"	"02330"	"MFN2_000024"	"g.12057372C>T"	""	""	""	"MFN2(NM_014874.4):c.493C>T (p.H165Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11997315C>T"	""	"pathogenic"	""
"0000279723"	"0"	"90"	"1"	"12058844"	"12058844"	"subst"	"0"	"02330"	"MFN2_000028"	"g.12058844C>T"	""	""	""	"MFN2(NM_014874.4):c.617C>T (p.T206I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11998787C>T"	""	"pathogenic"	""
"0000279724"	"0"	"90"	"1"	"12058865"	"12058865"	"subst"	"0"	"02330"	"MFN2_000029"	"g.12058865T>C"	""	""	""	"MFN2(NM_014874.4):c.638T>C (p.I213T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11998808T>C"	""	"pathogenic"	""
"0000279725"	"0"	"90"	"1"	"12058896"	"12058896"	"subst"	"0"	"02330"	"MFN2_000032"	"g.12058896T>A"	""	""	""	"MFN2(NM_014874.4):c.669T>A (p.F223L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11998839T>A"	""	"pathogenic"	""
"0000279726"	"0"	"50"	"1"	"12058925"	"12058925"	"subst"	"0"	"02330"	"MFN2_000129"	"g.12058925T>C"	""	""	""	"MFN2(NM_014874.4):c.698T>C (p.L233P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11998868T>C"	""	"VUS"	""
"0000279727"	"0"	"90"	"1"	"12058934"	"12058934"	"subst"	"8.12123E-6"	"02330"	"MFN2_000034"	"g.12058934C>T"	""	""	""	"MFN2(NM_014874.4):c.707C>T (p.T236M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11998877C>T"	""	"pathogenic"	""
"0000279728"	"0"	"90"	"1"	"12059066"	"12059066"	"subst"	"0"	"02330"	"MFN2_000036"	"g.12059066G>A"	""	""	""	"MFN2(NM_014874.4):c.730G>A (p.V244M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11999009G>A"	""	"pathogenic"	""
"0000279729"	"0"	"30"	"1"	"12059080"	"12059080"	"subst"	"0.00137248"	"02330"	"MFN2_000130"	"g.12059080C>T"	""	""	""	"MFN2(NM_014874.3):c.744C>T (p.L248=), MFN2(NM_014874.4):c.744C>T (p.L248=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11999023C>T"	""	"likely benign"	""
"0000279730"	"0"	"50"	"1"	"12059084"	"12059084"	"subst"	"1.62422E-5"	"02330"	"MFN2_000039"	"g.12059084C>T"	""	""	""	"MFN2(NM_014874.4):c.748C>T (p.R250W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11999027C>T"	""	"VUS"	""
"0000279731"	"0"	"50"	"1"	"12059085"	"12059085"	"subst"	"0.000223332"	"02330"	"MFN2_000040"	"g.12059085G>A"	""	""	""	"MFN2(NM_014874.3):c.749G>A (p.R250Q), MFN2(NM_014874.4):c.749G>A (p.R250Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11999028G>A"	""	"VUS"	""
"0000279732"	"0"	"90"	"1"	"12059087"	"12059087"	"subst"	"0"	"02330"	"MFN2_000041"	"g.12059087C>G"	""	""	""	"MFN2(NM_014874.4):c.751C>G (p.P251A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11999030C>G"	""	"pathogenic"	""
"0000279733"	"0"	"90"	"1"	"12059123"	"12059123"	"subst"	"0"	"02330"	"MFN2_000045"	"g.12059123T>C"	""	""	""	"MFN2(NM_014874.4):c.787T>C (p.S263P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11999066T>C"	""	"pathogenic"	""
"0000279734"	"0"	"90"	"1"	"12061459"	"12061459"	"subst"	"0"	"02330"	"MFN2_000046"	"g.12061459T>G"	""	""	""	"MFN2(NM_014874.4):c.818T>G (p.V273G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001402T>G"	""	"pathogenic"	""
"0000279735"	"0"	"90"	"1"	"12061462"	"12061462"	"subst"	"2.03952E-5"	"02330"	"MFN2_000047"	"g.12061462G>A"	""	""	""	"MFN2(NM_014874.4):c.821G>A (p.R274Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001405G>A"	""	"pathogenic"	""
"0000279736"	"0"	"90"	"1"	"12061480"	"12061480"	"subst"	"0"	"02330"	"MFN2_000052"	"g.12061480G>A"	""	""	""	"MFN2(NM_014874.4):c.839G>A (p.R280H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001423G>A"	""	"pathogenic"	""
"0000279737"	"0"	"90"	"1"	"12061492"	"12061492"	"subst"	"0"	"02330"	"MFN2_000053"	"g.12061492T>A"	""	""	""	"MFN2(NM_014874.4):c.851T>A (p.F284Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001435T>A"	""	"pathogenic"	""
"0000279738"	"0"	"10"	"1"	"12061533"	"12061533"	"subst"	"0.00207541"	"02330"	"MFN2_000054"	"g.12061533G>A"	""	""	""	"MFN2(NM_014874.3):c.892G>A (p.G298R, p.(Gly298Arg)), MFN2(NM_014874.4):c.892G>A (p.G298R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001476G>A"	""	"benign"	""
"0000279739"	"0"	"10"	"1"	"12061598"	"12061598"	"subst"	"0.00765507"	"02330"	"MFN2_000131"	"g.12061598C>T"	""	""	""	"MFN2(NM_014874.4):c.957C>T (p.G319=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001541C>T"	""	"benign"	""
"0000279740"	"0"	"10"	"1"	"12061630"	"12061630"	"subst"	"0.00165731"	"02330"	"MFN2_000132"	"g.12061630G>A"	""	""	""	"MFN2(NM_014874.4):c.970+19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001573G>A"	""	"benign"	""
"0000286567"	"0"	"30"	"1"	"12049209"	"12049209"	"subst"	"0.000935081"	"02326"	"MFN2_000114"	"g.12049209G>T"	""	""	""	"MFN2(NM_014874.3):c.-4-13G>T, MFN2(NM_014874.4):c.-4-13G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11989152G>T"	""	"likely benign"	""
"0000286568"	"0"	"30"	"1"	"12057344"	"12057344"	"subst"	"0"	"02326"	"MFN2_000127"	"g.12057344C>G"	""	""	""	"MFN2(NM_014874.3):c.475-10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11997287C>G"	""	"likely benign"	""
"0000291762"	"0"	"30"	"1"	"12049375"	"12049375"	"subst"	"0.00275743"	"01943"	"MFN2_000123"	"g.12049375C>A"	""	""	""	"MFN2(NM_014874.3):c.150C>A (p.I50=), MFN2(NM_014874.4):c.150C>A (p.I50=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11989318C>A"	""	"likely benign"	""
"0000291763"	"0"	"50"	"1"	"12065801"	"12065801"	"subst"	"0.000389819"	"01943"	"MFN2_000138"	"g.12065801G>A"	""	""	""	"MFN2(NM_014874.3):c.1529G>A (p.R510Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12005744G>A"	""	"VUS"	""
"0000291764"	"0"	"30"	"1"	"12065913"	"12065913"	"subst"	"0.000803996"	"01943"	"MFN2_000139"	"g.12065913C>T"	""	""	""	"MFN2(NM_014874.3):c.1641C>T (p.L547=), MFN2(NM_014874.4):c.1641C>T (p.L547=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12005856C>T"	""	"likely benign"	""
"0000291765"	"0"	"50"	"1"	"12069698"	"12069698"	"subst"	"0.000251754"	"01943"	"MFN2_000081"	"g.12069698C>T"	""	""	""	"MFN2(NM_014874.3):c.2119C>T (p.R707W), MFN2(NM_014874.4):c.2119C>T (p.R707W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12009641C>T"	""	"VUS"	""
"0000291766"	"0"	"30"	"1"	"12056345"	"12056345"	"subst"	"8.93575E-5"	"01943"	"MFN2_000126"	"g.12056345C>T"	""	""	""	"MFN2(NM_014874.3):c.444C>T (p.T148=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11996288C>T"	""	"likely benign"	""
"0000291767"	"0"	"30"	"1"	"12061533"	"12061533"	"subst"	"0.00207541"	"01943"	"MFN2_000054"	"g.12061533G>A"	""	""	""	"MFN2(NM_014874.3):c.892G>A (p.G298R, p.(Gly298Arg)), MFN2(NM_014874.4):c.892G>A (p.G298R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001476G>A"	""	"likely benign"	""
"0000337046"	"0"	"90"	"1"	"12058936"	"12058936"	"subst"	"0"	"02327"	"MFN2_000148"	"g.12058936G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11998879G>T"	""	"pathogenic"	""
"0000341201"	"0"	"70"	"1"	"12057369"	"12057369"	"subst"	"0"	"02327"	"MFN2_000147"	"g.12057369G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11997312G>A"	""	"likely pathogenic"	""
"0000343228"	"0"	"50"	"1"	"12067224"	"12067224"	"subst"	"0.000182757"	"02327"	"MFN2_000151"	"g.12067224C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12007167C>T"	""	"VUS"	""
"0000347591"	"0"	"50"	"1"	"12065776"	"12065776"	"subst"	"0"	"02327"	"MFN2_000150"	"g.12065776A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12005719A>G"	""	"VUS"	""
"0000347998"	"0"	"50"	"1"	"12059058"	"12059058"	"subst"	"0"	"02327"	"MFN2_000149"	"g.12059058T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.11999001T>G"	""	"VUS"	""
"0000351710"	"0"	"90"	"1"	"12071558"	"12071558"	"subst"	"0"	"01741"	"MFN2_000152"	"g.12071558A>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.12011501A>T"	""	"pathogenic"	""
"0000439077"	"0"	"50"	"1"	"12065828"	"12065828"	"subst"	"4.06055E-6"	"01164"	"MFN2_000153"	"g.12065828G>A"	""	""	""	""	""	"Germline"	""	"rs373809750"	"0"	""	""	"g.12005771G>A"	""	"VUS"	"ACMG"
"0000440019"	"0"	"50"	"1"	"12056305"	"12056305"	"subst"	"0"	"01164"	"MFN2_000154"	"g.12056305G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996248G>A"	""	"VUS"	"ACMG"
"0000454967"	"1"	"90"	"1"	"12062090"	"12062090"	"subst"	"0"	"00006"	"MFN2_000001"	"g.12062090C>T"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002033C>T"	""	"pathogenic"	""
"0000454968"	"1"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004835G>A"	""	"pathogenic"	""
"0000454969"	"1"	"90"	"1"	"12052717"	"12052717"	"subst"	"4.06081E-6"	"00006"	"MFN2_000008"	"g.12052717G>A"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992660G>A"	""	"pathogenic"	""
"0000454970"	"1"	"90"	"1"	"12056269"	"12056269"	"subst"	"0"	"00006"	"MFN2_000014"	"g.12056269C>T"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996212C>T"	""	"pathogenic"	""
"0000454971"	"1"	"90"	"1"	"12056214"	"12056214"	"subst"	"0"	"00006"	"MFN2_000157"	"g.12056214A>G"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11996157A>G"	""	"pathogenic"	""
"0000454972"	"1"	"90"	"1"	"12061480"	"12061480"	"subst"	"0"	"00006"	"MFN2_000052"	"g.12061480G>A"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001423G>A"	""	"pathogenic"	""
"0000454973"	"1"	"70"	"1"	"12062067"	"12062067"	"subst"	"0"	"00006"	"MFN2_000156"	"g.12062067C>A"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	"ACMG pm1, pm2, pm5"	"Germline"	""	""	"0"	""	""	"g.12002010C>A"	""	"likely pathogenic"	"ACMG"
"0000455041"	"1"	"90"	"1"	"12058935"	"12058935"	"subst"	"0"	"00006"	"MFN2_000158"	"g.12058935G>A"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.11998878G>A"	""	"pathogenic"	""
"0000455042"	"2"	"70"	"1"	"12059073"	"12059073"	"subst"	"0"	"00006"	"MFN2_000155"	"g.12059073A>T"	"1/612 cases"	"{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}"	""	""	"ACMG pm1, pm2, pm5"	"Germline"	"yes"	""	"0"	""	""	"g.11999016A>T"	""	"likely pathogenic"	"ACMG"
"0000502766"	"0"	"30"	"1"	"12049283"	"12049283"	"subst"	"8.12137E-5"	"01943"	"MFN2_000159"	"g.12049283C>T"	""	""	""	"MFN2(NM_014874.3):c.58C>T (p.H20Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11989226C>T"	""	"likely benign"	""
"0000502767"	"0"	"30"	"1"	"12049344"	"12049344"	"subst"	"8.12123E-6"	"01943"	"MFN2_000160"	"g.12049344A>G"	""	""	""	"MFN2(NM_014874.3):c.119A>G (p.N40S), MFN2(NM_014874.4):c.119A>G (p.(Asn40Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11989287A>G"	""	"likely benign"	""
"0000502768"	"0"	"30"	"1"	"12049344"	"12049344"	"subst"	"8.12123E-6"	"02327"	"MFN2_000160"	"g.12049344A>G"	""	""	""	"MFN2(NM_014874.3):c.119A>G (p.N40S), MFN2(NM_014874.4):c.119A>G (p.(Asn40Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11989287A>G"	""	"likely benign"	""
"0000502769"	"0"	"90"	"1"	"12049359"	"12049359"	"subst"	"0"	"02330"	"MFN2_000002"	"g.12049359A>G"	""	""	""	"MFN2(NM_014874.4):c.134A>G (p.Q45R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11989302A>G"	""	"pathogenic"	""
"0000502770"	"0"	"10"	"1"	"12049375"	"12049375"	"subst"	"0.00275743"	"02330"	"MFN2_000123"	"g.12049375C>A"	""	""	""	"MFN2(NM_014874.3):c.150C>A (p.I50=), MFN2(NM_014874.4):c.150C>A (p.I50=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11989318C>A"	""	"benign"	""
"0000502771"	"0"	"10"	"1"	"12049390"	"12049390"	"subst"	"0.00495198"	"02330"	"MFN2_000161"	"g.12049390C>T"	""	""	""	"MFN2(NM_014874.3):c.165C>T (p.T55=), MFN2(NM_014874.4):c.165C>T (p.T55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11989333C>T"	""	"benign"	""
"0000502772"	"0"	"30"	"1"	"12049390"	"12049390"	"subst"	"0.00495198"	"01943"	"MFN2_000161"	"g.12049390C>T"	""	""	""	"MFN2(NM_014874.3):c.165C>T (p.T55=), MFN2(NM_014874.4):c.165C>T (p.T55=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11989333C>T"	""	"likely benign"	""
"0000502780"	"0"	"90"	"1"	"12052716"	"12052716"	"subst"	"0"	"02327"	"MFN2_000007"	"g.12052716C>T"	""	""	""	"MFN2(NM_014874.4):c.280C>T (p.R94W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11992659C>T"	""	"pathogenic"	""
"0000502786"	"0"	"10"	"1"	"12056309"	"12056309"	"subst"	"0.00494587"	"02330"	"MFN2_000125"	"g.12056309A>T"	""	""	""	"MFN2(NM_014874.3):c.408A>T (p.V136=), MFN2(NM_014874.4):c.408A>T (p.V136=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11996252A>T"	""	"benign"	""
"0000502787"	"0"	"30"	"1"	"12056326"	"12056326"	"subst"	"0"	"02330"	"MFN2_000162"	"g.12056326A>C"	""	""	""	"MFN2(NM_014874.4):c.425A>C (p.H142P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11996269A>C"	""	"likely benign"	""
"0000502791"	"0"	"30"	"1"	"12057344"	"12057344"	"subst"	"0"	"02327"	"MFN2_000127"	"g.12057344C>G"	""	""	""	"MFN2(NM_014874.3):c.475-10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11997287C>G"	""	"likely benign"	""
"0000502792"	"0"	"90"	"1"	"12057373"	"12057373"	"subst"	"0"	"02330"	"MFN2_000025"	"g.12057373A>G"	""	""	""	"MFN2(NM_014874.4):c.494A>G (p.H165R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11997316A>G"	""	"pathogenic"	""
"0000502793"	"0"	"30"	"1"	"12058890"	"12058890"	"subst"	"0.000434479"	"01943"	"MFN2_000163"	"g.12058890T>C"	""	""	""	"MFN2(NM_014874.3):c.663T>C (p.D221=), MFN2(NM_014874.4):c.663T>C (p.D221=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11998833T>C"	""	"likely benign"	""
"0000502794"	"0"	"30"	"1"	"12058920"	"12058920"	"subst"	"1.62423E-5"	"02330"	"MFN2_000164"	"g.12058920C>T"	""	""	""	"MFN2(NM_014874.4):c.693C>T (p.S231=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11998863C>T"	""	"likely benign"	""
"0000502795"	"0"	"50"	"1"	"12059079"	"12059079"	"subst"	"0"	"02327"	"MFN2_000165"	"g.12059079T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11999022T>A"	""	"VUS"	""
"0000502796"	"0"	"50"	"1"	"12059087"	"12059087"	"subst"	"0"	"02327"	"MFN2_000166"	"g.12059087C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11999030C>A"	""	"VUS"	""
"0000502803"	"0"	"90"	"1"	"12061471"	"12061471"	"subst"	"0"	"02330"	"MFN2_000051"	"g.12061471A>G"	""	""	""	"MFN2(NM_014874.4):c.830A>G (p.H277R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12001414A>G"	""	"pathogenic"	""
"0000502804"	"0"	"10"	"1"	"12061532"	"12061532"	"subst"	"0.000829801"	"02330"	"MFN2_000167"	"g.12061532C>T"	""	""	""	"MFN2(NM_014874.3):c.891C>T (p.A297=), MFN2(NM_014874.4):c.891C>T (p.A297=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12001475C>T"	""	"benign"	""
"0000502805"	"0"	"30"	"1"	"12061532"	"12061532"	"subst"	"0.000829801"	"01943"	"MFN2_000167"	"g.12061532C>T"	""	""	""	"MFN2(NM_014874.3):c.891C>T (p.A297=), MFN2(NM_014874.4):c.891C>T (p.A297=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12001475C>T"	""	"likely benign"	""
"0000502806"	"0"	"30"	"1"	"12061830"	"12061830"	"subst"	"0.000690333"	"02330"	"MFN2_000168"	"g.12061830C>T"	""	""	""	"MFN2(NM_014874.4):c.975C>T (p.G325=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.12001773C>T"	""	"likely benign"	""
"0000502807"	"0"	"50"	"1"	"12062058"	"12062058"	"subst"	"0"	"01943"	"MFN2_000169"	"g.12062058C>T"	""	""	""	"MFN2(NM_014874.3):c.1058C>T (p.A353V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12002001C>T"	""	"VUS"	""
"0000502808"	"0"	"30"	"1"	"12062113"	"12062113"	"subst"	"2.84241E-5"	"02330"	"MFN2_000170"	"g.12062113G>A"	""	""	""	"MFN2(NM_014874.4):c.1113G>A (p.A371=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12002056G>A"	""	"likely benign"	""
"0000502809"	"0"	"50"	"1"	"12064087"	"12064087"	"subst"	"6.09083E-5"	"02330"	"MFN2_000171"	"g.12064087G>A"	""	""	""	"MFN2(NM_014874.4):c.1199G>A (p.R400Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12004030G>A"	""	"VUS"	""
"0000502810"	"0"	"90"	"1"	"12064159"	"12064159"	"subst"	"0"	"02330"	"MFN2_000074"	"g.12064159A>G"	""	""	""	"MFN2(NM_014874.4):c.1271A>G (p.E424G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12004102A>G"	""	"pathogenic"	""
"0000502811"	"0"	"10"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"02330"	"MFN2_000076"	"g.12064892G>A"	""	""	""	"MFN2(NM_014874.3):c.1403G>A (p.R468H), MFN2(NM_014874.4):c.1403G>A (p.R468H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12004835G>A"	""	"benign"	""
"0000502812"	"0"	"50"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"01943"	"MFN2_000076"	"g.12064892G>A"	""	""	""	"MFN2(NM_014874.3):c.1403G>A (p.R468H), MFN2(NM_014874.4):c.1403G>A (p.R468H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12004835G>A"	""	"VUS"	""
"0000502813"	"0"	"30"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"02326"	"MFN2_000076"	"g.12064892G>A"	""	""	""	"MFN2(NM_014874.3):c.1403G>A (p.R468H), MFN2(NM_014874.4):c.1403G>A (p.R468H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12004835G>A"	""	"likely benign"	""
"0000502814"	"0"	"10"	"1"	"12064993"	"12064993"	"subst"	"0.000536042"	"02330"	"MFN2_000172"	"g.12064993C>T"	""	""	""	"MFN2(NM_014874.3):c.1495+9C>T, MFN2(NM_014874.4):c.1495+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12004936C>T"	""	"benign"	""
"0000502815"	"0"	"10"	"1"	"12065841"	"12065841"	"subst"	"0.0541109"	"02330"	"MFN2_000173"	"g.12065841C>T"	""	""	""	"MFN2(NM_014874.4):c.1569C>T (p.S523=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12005784C>T"	""	"benign"	""
"0000502816"	"0"	"50"	"1"	"12065846"	"12065846"	"subst"	"0.000186785"	"01943"	"MFN2_000174"	"g.12065846A>G"	""	""	""	"MFN2(NM_014874.3):c.1574A>G (p.N525S, p.(Asn525Ser)), MFN2(NM_014874.4):c.1574A>G (p.N525S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12005789A>G"	""	"VUS"	""
"0000502817"	"0"	"10"	"1"	"12066586"	"12066589"	"del"	"0"	"02330"	"MFN2_000175"	"g.12066586_12066589del"	""	""	""	"MFN2(NM_014874.3):c.1717-9_1717-6delTCTC, MFN2(NM_014874.4):c.1717-9_1717-6delTCTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12006529_12006532del"	""	"benign"	""
"0000502818"	"0"	"30"	"1"	"12066648"	"12066648"	"subst"	"1.21829E-5"	"02330"	"MFN2_000176"	"g.12066648A>G"	""	""	""	"MFN2(NM_014874.4):c.1770A>G (p.P590=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12006591A>G"	""	"likely benign"	""
"0000502819"	"0"	"10"	"1"	"12069692"	"12069692"	"subst"	"0.00687068"	"02327"	"MFN2_000080"	"g.12069692G>A"	""	""	""	"MFN2(NM_014874.3):c.2113G>A (p.V705I), MFN2(NM_014874.4):c.2113G>A (p.V705I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12009635G>A"	""	"benign"	""
"0000502820"	"0"	"90"	"1"	"12071599"	"12071599"	"subst"	"0"	"02330"	"MFN2_000093"	"g.12071599C>T"	""	""	""	"MFN2(NM_014874.4):c.2251C>T (p.Q751*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12011542C>T"	""	"pathogenic"	""
"0000502821"	"0"	"10"	"1"	"12071637"	"12071637"	"subst"	"0.000642931"	"02330"	"MFN2_000177"	"g.12071637G>A"	""	""	""	"MFN2(NM_014874.4):c.*15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12011580G>A"	""	"benign"	""
"0000595627"	"0"	"70"	"1"	"12052716"	"12052716"	"subst"	"0"	"01364"	"MFN2_000007"	"g.12052716C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992659C>T"	""	"likely pathogenic"	""
"0000595628"	"0"	"50"	"1"	"12052742"	"12052742"	"dup"	"0"	"01364"	"MFN2_010015"	"g.12052742dup"	""	""	""	"g.12052742dupT"	""	"Germline"	""	""	"0"	""	""	"g.11992685dup"	""	"VUS"	""
"0000595629"	"0"	"70"	"1"	"12052735"	"12052735"	"subst"	"0"	"01364"	"MFN2_010014"	"g.12052735C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992678C>T"	""	"likely pathogenic"	""
"0000595630"	"0"	"70"	"1"	"12058877"	"12058877"	"subst"	"0"	"01364"	"MFN2_010016"	"g.12058877G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998820G>T"	""	"likely pathogenic"	""
"0000595631"	"0"	"70"	"1"	"12059088"	"12059088"	"subst"	"0"	"01364"	"MFN2_010017"	"g.12059088C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999031C>T"	""	"likely pathogenic"	""
"0000595632"	"0"	"50"	"1"	"12058836"	"12058836"	"subst"	"0"	"01364"	"MFN2_000027"	"g.12058836T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998779T>G"	""	"VUS"	""
"0000595633"	"0"	"50"	"1"	"12052717"	"12052717"	"subst"	"4.06081E-6"	"01364"	"MFN2_000008"	"g.12052717G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992660G>A"	""	"VUS"	""
"0000595634"	"0"	"50"	"1"	"12052746"	"12052746"	"subst"	"0"	"01364"	"MFN2_010013"	"g.12052746C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992689C>T"	""	"VUS"	""
"0000595635"	"0"	"50"	"1"	"12061483"	"12061483"	"subst"	"0.000366748"	"01364"	"MFN2_010018"	"g.12061483G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001426G>C"	""	"VUS"	""
"0000598344"	"0"	"50"	"1"	"12062102"	"12062102"	"subst"	"0"	"01164"	"MFN2_010019"	"g.12062102A>G"	""	""	""	""	"ACMG grading: BP4,PM2\r\nfound in patient with 2 variants (class 5 and class 3) in SH3TC2"	"Germline"	""	""	"0"	""	""	"g.12002045A>G"	""	"VUS"	"ACMG"
"0000604722"	"0"	"50"	"1"	"12049303"	"12049303"	"subst"	"8.1213E-6"	"02330"	"MFN2_010020"	"g.12049303A>G"	""	""	""	"MFN2(NM_014874.4):c.78A>G (p.A26=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11989246A>G"	""	"VUS"	""
"0000604726"	"0"	"90"	"1"	"12052716"	"12052716"	"subst"	"0"	"02325"	"MFN2_000007"	"g.12052716C>T"	""	""	""	"MFN2(NM_014874.4):c.280C>T (p.R94W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11992659C>T"	""	"pathogenic"	""
"0000604729"	"0"	"30"	"1"	"12058890"	"12058890"	"subst"	"0.000434479"	"02330"	"MFN2_000163"	"g.12058890T>C"	""	""	""	"MFN2(NM_014874.3):c.663T>C (p.D221=), MFN2(NM_014874.4):c.663T>C (p.D221=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11998833T>C"	""	"likely benign"	""
"0000604730"	"0"	"30"	"1"	"12061574"	"12061574"	"subst"	"2.84287E-5"	"02326"	"MFN2_010021"	"g.12061574C>T"	""	""	""	"MFN2(NM_014874.3):c.933C>T (p.N311=), MFN2(NM_014874.4):c.933C>T (p.N311=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12001517C>T"	""	"likely benign"	""
"0000604731"	"0"	"90"	"1"	"12064886"	"12064886"	"subst"	"0"	"02330"	"MFN2_010022"	"g.12064886T>A"	""	""	""	"MFN2(NM_014874.3):c.1397T>A (p.L466Q), MFN2(NM_014874.4):c.1397T>A (p.L466Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12004829T>A"	""	"pathogenic"	""
"0000604732"	"0"	"70"	"1"	"12064886"	"12064886"	"subst"	"0"	"02326"	"MFN2_010022"	"g.12064886T>A"	""	""	""	"MFN2(NM_014874.3):c.1397T>A (p.L466Q), MFN2(NM_014874.4):c.1397T>A (p.L466Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12004829T>A"	""	"likely pathogenic"	""
"0000604733"	"0"	"30"	"1"	"12064941"	"12064941"	"subst"	"0.000859346"	"01943"	"MFN2_000137"	"g.12064941G>A"	""	""	""	"MFN2(NM_014874.3):c.1452G>A (p.T484=), MFN2(NM_014874.4):c.1452G>A (p.T484=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12004884G>A"	""	"likely benign"	""
"0000604734"	"0"	"30"	"1"	"12065753"	"12065753"	"subst"	"0"	"02330"	"MFN2_010023"	"g.12065753T>G"	""	""	""	"MFN2(NM_014874.4):c.1496-15T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12005696T>G"	""	"likely benign"	""
"0000604735"	"0"	"30"	"1"	"12066705"	"12066705"	"subst"	"0.000584767"	"01943"	"MFN2_010024"	"g.12066705C>T"	""	""	""	"MFN2(NM_014874.3):c.1827C>T (p.S609=), MFN2(NM_014874.4):c.1827C>T (p.S609=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12006648C>T"	""	"likely benign"	""
"0000604736"	"0"	"70"	"1"	"12069698"	"12069698"	"subst"	"0.000251754"	"02327"	"MFN2_000081"	"g.12069698C>T"	""	""	""	"MFN2(NM_014874.3):c.2119C>T (p.R707W), MFN2(NM_014874.4):c.2119C>T (p.R707W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12009641C>T"	""	"likely pathogenic"	""
"0000620374"	"0"	"30"	"1"	"12066705"	"12066705"	"subst"	"0.000584767"	"02330"	"MFN2_010024"	"g.12066705C>T"	""	""	""	"MFN2(NM_014874.3):c.1827C>T (p.S609=), MFN2(NM_014874.4):c.1827C>T (p.S609=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12006648C>T"	""	"likely benign"	""
"0000647363"	"1"	"90"	"1"	"12052716"	"12052716"	"subst"	"0"	"03575"	"MFN2_000007"	"g.12052716C>T"	"16/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"16 heterozygous, no homozygous; {DB:CLININrs119103263}"	"Germline"	""	"rs119103263"	"0"	""	""	"g.11992659C>T"	""	"pathogenic"	""
"0000647364"	"1"	"70"	"1"	"12058934"	"12058934"	"subst"	"8.12123E-6"	"03575"	"MFN2_000034"	"g.12058934C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs773159585}"	"Germline"	""	"rs773159585"	"0"	""	""	"g.11998877C>T"	""	"likely pathogenic"	""
"0000647365"	"1"	"70"	"1"	"12059056"	"12059056"	"subst"	"0"	"03575"	"MFN2_010025"	"g.12059056C>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININMFN2-chr1-12059056}"	"Germline"	""	""	"0"	""	""	"g.11998999C>A"	""	"likely pathogenic"	""
"0000647366"	"1"	"50"	"1"	"12059085"	"12059085"	"subst"	"0.000223332"	"03575"	"MFN2_000040"	"g.12059085G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs140234726}"	"Germline"	""	"rs140234726"	"0"	""	""	"g.11999028G>A"	""	"VUS"	""
"0000647367"	"1"	"70"	"1"	"12061539"	"12061539"	"subst"	"0"	"03575"	"MFN2_010026"	"g.12061539C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs863224066}"	"Germline"	""	"rs863224066"	"0"	""	""	"g.12001482C>T"	""	"likely pathogenic"	""
"0000647368"	"1"	"70"	"1"	"12062085"	"12062085"	"subst"	"2.43633E-5"	"03575"	"MFN2_000060"	"g.12062085C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs387906991}"	"Germline"	""	"rs387906991"	"0"	""	""	"g.12002028C>T"	""	"likely pathogenic"	""
"0000647369"	"1"	"50"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"03575"	"MFN2_000076"	"g.12064892G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs138382758}"	"Germline"	""	"rs138382758"	"0"	""	""	"g.12004835G>A"	""	"VUS"	""
"0000647370"	"1"	"50"	"1"	"12067224"	"12067224"	"subst"	"0.000182757"	"03575"	"MFN2_000151"	"g.12067224C>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs369762154}"	"Germline"	""	"rs369762154"	"0"	""	""	"g.12007167C>T"	""	"VUS"	""
"0000647371"	"1"	"90"	"1"	"12071604"	"12071604"	"subst"	"0"	"03575"	"MFN2_000094"	"g.12071604C>A"	"19/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"19 heterozygous, no homozygous; {DB:CLININrs863224968}"	"Germline"	""	"rs863224968"	"0"	""	""	"g.12011547C>A"	""	"pathogenic"	""
"0000653625"	"0"	"30"	"1"	"12056231"	"12056231"	"subst"	"0"	"02330"	"MFN2_010027"	"g.12056231C>T"	""	""	""	"MFN2(NM_014874.4):c.330C>T (p.S110=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11996174C>T"	""	"likely benign"	""
"0000653626"	"0"	"50"	"1"	"12059085"	"12059085"	"subst"	"0.000223332"	"01943"	"MFN2_000040"	"g.12059085G>A"	""	""	""	"MFN2(NM_014874.3):c.749G>A (p.R250Q), MFN2(NM_014874.4):c.749G>A (p.R250Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.11999028G>A"	""	"VUS"	""
"0000653627"	"0"	"30"	"1"	"12062146"	"12062146"	"subst"	"2.84262E-5"	"01943"	"MFN2_010028"	"g.12062146G>A"	""	""	""	"MFN2(NM_014874.3):c.1146G>A (p.A382=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.12002089G>A"	""	"likely benign"	""
"0000659693"	"0"	"50"	"1"	"12057420"	"12057420"	"subst"	"4.06081E-6"	"01164"	"MFN2_000120"	"g.12057420G>A"	""	""	""	""	""	"Germline"	""	"rs863224064"	"0"	""	""	"g.11997363G>A"	""	"VUS"	"ACMG"
"0000664021"	"0"	"90"	"1"	"12052716"	"12052716"	"subst"	"0"	"00006"	"MFN2_000007"	"g.12052716C>T"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	"rs119103263"	"0"	""	""	"g.11992659C>T"	""	"pathogenic (dominant)"	""
"0000664022"	"0"	"90"	"1"	"12062126"	"12062126"	"subst"	"0"	"00006"	"MFN2_000064"	"g.12062126A>G"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	"non-penetrance in asymptomatic offspring"	"Germline"	""	""	"0"	""	""	"g.12002069A>G"	""	"pathogenic (!)"	""
"0000664023"	"0"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	"rs138382758"	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000664024"	"0"	"90"	"1"	"12069698"	"12069698"	"subst"	"0.000251754"	"00006"	"MFN2_000081"	"g.12069698C>T"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	"rs119103267"	"0"	""	""	"g.12009641C>T"	""	"pathogenic (dominant)"	""
"0000664086"	"0"	"70"	"1"	"12052698"	"12052698"	"subst"	"0"	"00006"	"MFN2_010034"	"g.12052698A>T"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992641A>T"	""	"likely pathogenic (dominant)"	""
"0000664087"	"0"	"70"	"1"	"12062085"	"12062085"	"subst"	"0"	"00006"	"MFN2_010043"	"g.12062085C>G"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002028C>G"	""	"likely pathogenic (dominant)"	""
"0000664088"	"0"	"70"	"1"	"12069773"	"12069773"	"subst"	"0"	"00006"	"MFN2_010049"	"g.12069773A>G"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12009716A>G"	""	"likely pathogenic (dominant)"	""
"0000664089"	"0"	"70"	"1"	"12071578"	"12071578"	"subst"	"0"	"00006"	"MFN2_010050"	"g.12071578G>A"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	"AD, segregates with disease"	"Germline"	""	""	"0"	""	""	"g.12011521G>A"	""	"likely pathogenic (dominant)"	""
"0000664129"	"0"	"90"	"1"	"12052716"	"12052716"	"subst"	"0"	"00006"	"MFN2_000007"	"g.12052716C>T"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	"rs119103263"	"0"	""	""	"g.11992659C>T"	""	"pathogenic (dominant)"	""
"0000664130"	"0"	"90"	"1"	"12062126"	"12062126"	"subst"	"0"	"00006"	"MFN2_000064"	"g.12062126A>G"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	"non-penetrance in asymptomatic offspring"	"Germline"	""	""	"0"	""	""	"g.12002069A>G"	""	"pathogenic (!)"	""
"0000664148"	"0"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	"rs138382758"	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000664158"	"0"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	"rs138382758"	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000664185"	"0"	"50"	"1"	"12059145"	"12059145"	"subst"	"1.62429E-5"	"00006"	"MFN2_010039"	"g.12059145T>C"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999088T>C"	""	"VUS"	""
"0000664186"	"0"	"50"	"1"	"12061884"	"12061886"	"del"	"0"	"00006"	"MFN2_010040"	"g.12061884_12061886del"	""	"{PMID:Antoniadi 2015:26392352}"	""	"c.1029_1032delGAG"	""	"Germline"	""	""	"0"	""	""	"g.12001827_12001829del"	""	"VUS"	""
"0000664192"	"1"	"70"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	"1/130 contols"	"{PMID:Engelfried 2006:16762064}"	""	""	"Casasnovas 2009 suggest this anonymous control subject  could be CMT2 patient who had not yet reached the age of onset of symptoms"	"Germline"	""	""	"0"	""	""	"g.12004835G>A"	""	"VUS"	""
"0000664207"	"1"	"90"	"1"	"12052716"	"12052716"	"subst"	"0"	"00006"	"MFN2_000007"	"g.12052716C>T"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992659C>T"	""	"pathogenic (dominant)"	""
"0000664208"	"1"	"90"	"1"	"12052717"	"12052717"	"subst"	"4.06081E-6"	"00006"	"MFN2_000008"	"g.12052717G>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992660G>A"	""	"pathogenic (dominant)"	""
"0000664209"	"1"	"90"	"1"	"12059092"	"12059092"	"subst"	"0"	"00006"	"MFN2_010038"	"g.12059092C>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11999035C>A"	""	"pathogenic (dominant)"	""
"0000664210"	"1"	"90"	"1"	"12062091"	"12062091"	"subst"	"0"	"00006"	"MFN2_000061"	"g.12062091G>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002034G>A"	""	"pathogenic (dominant)"	""
"0000664211"	"1"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000664212"	"1"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000664213"	"0"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000664214"	"1"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000664215"	"0"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000664216"	"1"	"90"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00006"	"MFN2_000076"	"g.12064892G>A"	""	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004835G>A"	""	"pathogenic (dominant)"	""
"0000664233"	"1"	"10"	"1"	"12040304"	"12040319"	"del"	"0"	"00006"	"MFN2_010030"	"g.12040304_12040319del"	"0.35 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	"–372_387del"	""	"Germline"	""	""	"0"	""	""	"g.11980247_11980262del"	""	"benign"	""
"0000664234"	"3"	"10"	"1"	"12040324"	"12040324"	"subst"	"0"	"00006"	"MFN2_000121"	"g.12040324A>G"	"0.59 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs2236054"	"0"	""	""	"g.11980267A>G"	""	"benign"	""
"0000664235"	"1"	"10"	"1"	"12040324"	"12040324"	"subst"	"0"	"00006"	"MFN2_000121"	"g.12040324A>G"	"0.482 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs2236054"	"0"	""	""	"g.11980267A>G"	""	"benign"	""
"0000664236"	"3"	"10"	"1"	"12040479"	"12040479"	"subst"	"0"	"00006"	"MFN2_000122"	"g.12040479T>C"	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs2180183"	"0"	""	""	"g.11980422T>C"	""	"benign"	""
"0000664237"	"1"	"10"	"1"	"12040479"	"12040479"	"subst"	"0"	"00006"	"MFN2_000122"	"g.12040479T>C"	"0.518 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs2180183"	"0"	""	""	"g.11980422T>C"	""	"benign"	""
"0000664238"	"1"	"10"	"1"	"12042012"	"12042012"	"subst"	"0"	"00006"	"MFN2_010031"	"g.12042012T>G"	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11981955T>G"	""	"benign"	""
"0000664239"	"3"	"10"	"1"	"12052405"	"12052405"	"subst"	"0"	"00006"	"MFN2_010032"	"g.12052405G>A"	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs667593"	"0"	""	""	"g.11992348G>A"	""	"benign"	""
"0000664240"	"1"	"10"	"1"	"12052405"	"12052405"	"subst"	"0"	"00006"	"MFN2_010032"	"g.12052405G>A"	"0.294 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs667593"	"0"	""	""	"g.11992348G>A"	""	"benign"	""
"0000664241"	"1"	"10"	"1"	"12052433"	"12052433"	"subst"	"0"	"00006"	"MFN2_010033"	"g.12052433C>A"	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992376C>A"	""	"benign"	""
"0000664242"	"3"	"10"	"1"	"12056440"	"12056440"	"subst"	"0"	"00006"	"MFN2_010035"	"g.12056440C>T"	"0.106 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs223605"	"0"	""	""	"g.11996383C>T"	""	"benign"	""
"0000664243"	"1"	"10"	"1"	"12056440"	"12056440"	"subst"	"0"	"00006"	"MFN2_010035"	"g.12056440C>T"	"0.647 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs223605"	"0"	""	""	"g.11996383C>T"	""	"benign"	""
"0000664244"	"1"	"10"	"1"	"12058802"	"12058802"	"subst"	"0.0541437"	"00006"	"MFN2_010036"	"g.12058802T>C"	"0.117 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs41278626"	"0"	""	""	"g.11998745T>C"	""	"benign"	""
"0000664245"	"1"	"10"	"1"	"12059013"	"12059013"	"subst"	"0.00285461"	"00006"	"MFN2_010037"	"g.12059013C>T"	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs41278628"	"0"	""	""	"g.11998956C>T"	""	"benign"	""
"0000664246"	"1"	"10"	"1"	"12061598"	"12061598"	"subst"	"0.00765507"	"00006"	"MFN2_000131"	"g.12061598C>T"	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs41278632"	"0"	""	""	"g.12001541C>T"	""	"benign"	""
"0000664247"	"1"	"10"	"1"	"12061533"	"12061533"	"subst"	"0.00207541"	"00006"	"MFN2_000054"	"g.12061533G>A"	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs41278630"	"0"	""	""	"g.12001476G>A"	""	"benign"	""
"0000664248"	"1"	"10"	"1"	"12062020"	"12062020"	"subst"	"0.0109353"	"00006"	"MFN2_000133"	"g.12062020G>A"	"0.15 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001963G>A"	""	"benign"	""
"0000664249"	"1"	"10"	"1"	"12062017"	"12062017"	"subst"	"0.0496244"	"00006"	"MFN2_010042"	"g.12062017T>C"	"0.82 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs6680984"	"0"	""	""	"g.12001960T>C"	""	"benign"	""
"0000664250"	"1"	"10"	"1"	"12061998"	"12061998"	"subst"	"0.00324441"	"00006"	"MFN2_010041"	"g.12061998C>G"	"0.70 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12001941C>G"	""	"benign"	""
"0000664251"	"1"	"10"	"1"	"12064749"	"12064749"	"subst"	"0"	"00006"	"MFN2_010044"	"g.12064749C>A"	"0.176 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004692C>A"	""	"benign"	""
"0000664252"	"1"	"10"	"1"	"12064749"	"12064749"	"subst"	"0"	"00006"	"MFN2_010045"	"g.12064749C>T"	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004692C>T"	""	"benign"	""
"0000664253"	"1"	"10"	"1"	"12065841"	"12065841"	"subst"	"0.0541109"	"00006"	"MFN2_000173"	"g.12065841C>T"	"0.129 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs1042837"	"0"	""	""	"g.12005784C>T"	""	"benign"	""
"0000664254"	"1"	"10"	"1"	"12066818"	"12066818"	"subst"	"0"	"00006"	"MFN2_010047"	"g.12066818T>C"	"0.15 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12006761T>C"	""	"benign"	""
"0000664255"	"1"	"10"	"1"	"12067044"	"12067044"	"subst"	"0"	"00006"	"MFN2_010048"	"g.12067044T>G"	"0.59 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs7550536"	"0"	""	""	"g.12006987T>G"	""	"benign"	""
"0000664256"	"1"	"10"	"1"	"12066813"	"12066813"	"subst"	"0"	"00006"	"MFN2_010046"	"g.12066813T>C"	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	"1873+63T>C"	"Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	"rs2273295"	"0"	""	""	"g.12006756T>C"	""	"benign"	""
"0000664257"	"1"	"10"	"1"	"12069604"	"12069604"	""	"0"	"00006"	"MFN2_010029"	"g.12069604="	"0.12 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	"2070-45T>C"	""	"Germline"	""	""	"0"	""	""	"g.12009547="	""	"benign"	""
"0000664258"	"1"	"10"	"1"	"12069798"	"12069798"	"subst"	"0.0616232"	"00006"	"MFN2_000142"	"g.12069798T>C"	"0.82 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12009741T>C"	""	"benign"	""
"0000664259"	"3"	"10"	"1"	"12071680"	"12071680"	"subst"	"0"	"00006"	"MFN2_000144"	"g.12071680A>G"	"0.59 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs1042842"	"0"	""	""	"g.12011623A>G"	""	"benign"	""
"0000664260"	"1"	"10"	"1"	"12071680"	"12071680"	"subst"	"0"	"00006"	"MFN2_000144"	"g.12071680A>G"	"0.670 in controls"	"{PMID:Casasnovas 2010:19889647}"	""	""	""	"Germline"	""	"rs1042842"	"0"	""	""	"g.12011623A>G"	""	"benign"	""
"0000664826"	"0"	"50"	"1"	"12058880"	"12058880"	"subst"	"0"	"01164"	"MFN2_010051"	"g.12058880T>C"	""	""	""	""	"ACMG grading: PVS1,PM2,PP1,PP5; Zhang et al. 2009. Mol Vis 15: 276"	"Germline"	""	"rs879253925"	"0"	""	""	"g.11998823T>C"	""	"VUS"	"ACMG"
"0000667856"	"0"	"70"	"1"	"12059132"	"12059132"	"subst"	"0"	"03524"	"MFN2_010052"	"g.12059132G>A"	""	""	""	""	"reported in Loiseau_Ann Neurol_2007, Brozkova_Mol Med Rep_2013"	"De novo"	""	""	"0"	""	""	"g.11999075G>A"	""	"likely pathogenic (dominant)"	"ACMG"
"0000675444"	"0"	"50"	"1"	"12064969"	"12064969"	"subst"	"2.10054E-5"	"02327"	"MFN2_010053"	"g.12064969C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675445"	"0"	"70"	"1"	"12069698"	"12069698"	"subst"	"0.000251754"	"02330"	"MFN2_000081"	"g.12069698C>T"	""	""	""	"MFN2(NM_014874.3):c.2119C>T (p.R707W), MFN2(NM_014874.4):c.2119C>T (p.R707W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000687263"	"0"	"50"	"1"	"12067131"	"12067131"	"subst"	"0"	"01741"	"MFN2_010054"	"g.12067131C>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	""
"0000687838"	"0"	"50"	"1"	"12064635"	"12064635"	"subst"	"4.06055E-6"	"02330"	"MFN2_010055"	"g.12064635C>T"	""	""	""	"MFN2(NM_014874.4):c.1357C>T (p.H453Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687839"	"0"	"50"	"1"	"12065885"	"12065885"	"subst"	"0"	"02325"	"MFN2_010056"	"g.12065885A>G"	""	""	""	"MFN2(NM_014874.4):c.1613A>G (p.Q538R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687840"	"0"	"30"	"1"	"12069692"	"12069692"	"subst"	"0.00687068"	"01943"	"MFN2_000080"	"g.12069692G>A"	""	""	""	"MFN2(NM_014874.3):c.2113G>A (p.V705I), MFN2(NM_014874.4):c.2113G>A (p.V705I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000687841"	"0"	"50"	"1"	"12069725"	"12069725"	"subst"	"0.000105575"	"01943"	"MFN2_000084"	"g.12069725G>A"	""	""	""	"MFN2(NM_014874.3):c.2146G>A (p.A716T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000687842"	"0"	"90"	"1"	"12071606"	"12071606"	"dup"	"0"	"01943"	"MFN2_000099"	"g.12071606dup"	""	""	""	"MFN2(NM_014874.3):c.2258dupT (p.Q754Afs*9), MFN2(NM_014874.4):c.2258dup (p.(Gln754AlafsTer9)), MFN2(NM_014874.4):c.2258dupT (p.Q754Afs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000709001"	"11"	"90"	"1"	"12057353"	"12057353"	"subst"	"0"	"00006"	"MFN2_010057"	"g.12057353G>T"	""	"{PMID:Lin 2011:232206013}"	""	""	"effect on RNA analysed with mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.11997296G>T"	""	"pathogenic (dominant)"	""
"0000709002"	"0"	"90"	"1"	"12058924"	"12058924"	"subst"	"0"	"00006"	"MFN2_010058"	"g.12058924C>G"	""	"{PMID:Lin 2011:232206013}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11998867C>G"	""	"pathogenic (dominant)"	""
"0000709003"	"0"	"90"	"1"	"12062090"	"12062090"	"subst"	"0"	"00006"	"MFN2_000001"	"g.12062090C>T"	""	"{PMID:Lin 2011:232206013}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002033C>T"	""	"pathogenic (dominant)"	""
"0000709004"	"0"	"90"	"1"	"12062090"	"12062090"	"subst"	"0"	"00006"	"MFN2_000001"	"g.12062090C>T"	""	"{PMID:Lin 2011:232206013}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002033C>T"	""	"pathogenic (dominant)"	""
"0000709005"	"11"	"90"	"1"	"12071578"	"12071579"	"delins"	"0"	"00006"	"MFN2_010059"	"g.12071578_12071579delinsAT"	""	"{PMID:Lin 2011:232206013}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12011521_12011522delinsAT"	""	"pathogenic (dominant)"	""
"0000711421"	"3"	"90"	"1"	"12064129"	"12064129"	"subst"	"0"	"00006"	"MFN2_010060"	"g.12064129A>T"	""	"{DOI:Sharma 2021:10.1101/2021.01.11.426268}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12004072A>T"	""	"pathogenic (recessive)"	""
"0000712075"	"0"	"77"	"1"	"12064892"	"12064892"	"subst"	"0.00219461"	"00091"	"MFN2_000076"	"g.12064892G>A"	""	""	""	""	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	""	""	"likely pathogenic (dominant)"	""
"0000712658"	"0"	"50"	"1"	"12067225"	"12067225"	"subst"	"1.21842E-5"	"03980"	"MFN2_010061"	"g.12067225G>A"	""	"Doucette 2021, submitted"	""	""	""	"Germline"	"yes"	"rs766735605"	""	""	""	""	"{CV:447720}"	"VUS"	""
"0000716745"	"0"	"50"	"1"	"12057405"	"12057405"	"subst"	"0"	"01943"	"MFN2_010062"	"g.12057405G>A"	""	""	""	"MFN2(NM_014874.3):c.526G>A (p.G176S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716746"	"0"	"70"	"1"	"12059082"	"12059082"	"subst"	"0"	"02327"	"MFN2_000038"	"g.12059082C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000716747"	"0"	"30"	"1"	"12059092"	"12059092"	"subst"	"0.000458842"	"02330"	"MFN2_010063"	"g.12059092C>T"	""	""	""	"MFN2(NM_014874.4):c.756C>T (p.N252=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716748"	"0"	"50"	"1"	"12059100"	"12059100"	"subst"	"0"	"02330"	"MFN2_010064"	"g.12059100T>C"	""	""	""	"MFN2(NM_014874.4):c.764T>C (p.I255T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000716749"	"0"	"30"	"1"	"12061483"	"12061483"	"subst"	"0.000366748"	"01943"	"MFN2_010018"	"g.12061483G>C"	""	""	""	"MFN2(NM_014874.3):c.842G>C (p.C281S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716750"	"0"	"30"	"1"	"12061493"	"12061493"	"subst"	"8.14538E-6"	"01943"	"MFN2_010065"	"g.12061493C>T"	""	""	""	"MFN2(NM_014874.3):c.852C>T (p.F284=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000716751"	"0"	"30"	"1"	"12066586"	"12066589"	"del"	"0"	"01943"	"MFN2_000175"	"g.12066586_12066589del"	""	""	""	"MFN2(NM_014874.3):c.1717-9_1717-6delTCTC, MFN2(NM_014874.4):c.1717-9_1717-6delTCTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000783990"	"0"	"30"	"1"	"12059036"	"12059036"	"subst"	"3.6545E-5"	"00006"	"MFN2_010066"	"g.12059036T>C"	""	"{PMID:Xu 2015:25999675}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000786939"	"0"	"90"	"1"	"12062090"	"12062090"	"subst"	"0"	"00006"	"MFN2_000001"	"g.12062090C>T"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.12002033C>T"	""	"pathogenic"	""
"0000787472"	"0"	"50"	"1"	"12052698"	"12052698"	"subst"	"0"	"00000"	"MFN2_010034"	"g.12052698A>T"	""	"0"	""	""	""	"Germline"	""	""	"0"	""	""	"g.11992641A>T"	""	"VUS"	""
"0000793779"	"0"	"70"	"1"	"12049245"	"12049245"	"subst"	"0"	"00000"	"DHCR7_000185"	"g.12049245G>A"	""	"{PMID:Zhou-2011:21677794}"	""	"c.20G>A"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000798727"	"0"	"50"	"1"	"12049402"	"12049402"	"dup"	"0"	"02330"	"MFN2_010068"	"g.12049402dup"	""	""	""	"MFN2(NM_014874.4):c.175+2dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000798731"	"0"	"30"	"1"	"12061511"	"12061511"	"subst"	"8.14525E-5"	"02326"	"MFN2_010069"	"g.12061511C>T"	""	""	""	"MFN2(NM_014874.3):c.870C>T (p.G290=), MFN2(NM_014874.4):c.870C>T (p.G290=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000798732"	"0"	"50"	"1"	"12064886"	"12064886"	"subst"	"0"	"02327"	"MFN2_010022"	"g.12064886T>A"	""	""	""	"MFN2(NM_014874.3):c.1397T>A (p.L466Q), MFN2(NM_014874.4):c.1397T>A (p.L466Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000798733"	"0"	"30"	"1"	"12066684"	"12066684"	"subst"	"0.00149439"	"02330"	"MFN2_010070"	"g.12066684C>T"	""	""	""	"MFN2(NM_014874.4):c.1806C>T (p.S602=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000821006"	"0"	"90"	"1"	"9200001"	"12700000"	"del"	"0"	"00000"	"MTHFR_000084"	"g.9200001_12700000del"	""	"{PMID:Ruberto 2020:32507954}"	""	"CGH array deletion in Cr1p36.22 involving NMNAT1 gene,"	"am apparent homozygous NMNAT1 mutation was found, probably on the other allele"	"Unknown"	"?"	""	"0"	""	""	"g.9100001_12500000del"	""	"likely pathogenic"	""
"0000826999"	"0"	"90"	"1"	"12052746"	"12052746"	"subst"	"0"	"00000"	"MFN2_000011"	"g.12052746C>T"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"MFN2 c.310C>T, p.Arg104Trp"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.11992689C>T"	""	"pathogenic"	""
"0000831398"	"3"	"90"	"1"	"12056235"	"12056235"	"subst"	"1.62429E-5"	"04212"	"MFN2_010071"	"g.12056235G>A"	""	"{PMID:Kanwal 2021:34193129}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.11996178G>A"	""	"pathogenic (recessive)"	""
"0000832359"	"0"	"90"	"1"	"12071606"	"12071606"	"dup"	"0"	"04188"	"MFN2_000099"	"g.12071606dup"	""	"{PMID:Ferese 2021:34354735}"	""	"2258dupT"	"ACMG PVS1-PM1-PM2-PP3; father not available"	"Germline/De novo (untested)"	""	"rs773371488"	"0"	""	""	"g.12011549dup"	"SCV001424047"	"pathogenic (dominant)"	"ACMG"
"0000834862"	"21"	"70"	"1"	"12071569"	"12071569"	"subst"	"4.10038E-6"	"04188"	"MFN2_010072"	"g.12071569T>G"	""	"{PMID:Fierro 2020:33187793}"	""	""	"ACMG PM1-PM2-PM5-PP2-PP3-PP5; mother/hal-fbrother unaffected carriers"	"Germline"	""	""	"0"	""	""	"g.12011512T>G"	""	"likely pathogenic (recessive)"	"ACMG"
"0000848264"	"0"	"10"	"1"	"12049384"	"12049384"	"subst"	"0.00605699"	"02330"	"MFN2_010073"	"g.12049384C>T"	""	""	""	"MFN2(NM_014874.4):c.159C>T (p.S53=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000848269"	"0"	"30"	"1"	"12056234"	"12056234"	"subst"	"1.62435E-5"	"02330"	"MFN2_010074"	"g.12056234C>T"	""	""	""	"MFN2(NM_014874.4):c.333C>T (p.T111=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848270"	"0"	"10"	"1"	"12061533"	"12061533"	"subst"	"0.00207541"	"02326"	"MFN2_000054"	"g.12061533G>A"	""	""	""	"MFN2(NM_014874.3):c.892G>A (p.G298R, p.(Gly298Arg)), MFN2(NM_014874.4):c.892G>A (p.G298R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000848271"	"0"	"30"	"1"	"12064993"	"12064993"	"subst"	"0.000536042"	"01943"	"MFN2_000172"	"g.12064993C>T"	""	""	""	"MFN2(NM_014874.3):c.1495+9C>T, MFN2(NM_014874.4):c.1495+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848272"	"0"	"50"	"1"	"12067116"	"12067116"	"subst"	"4.0625E-6"	"02330"	"MFN2_010077"	"g.12067116A>G"	""	""	""	"MFN2(NM_014874.4):c.1879A>G (p.K627E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856929"	"0"	"50"	"1"	"12058910"	"12058910"	"subst"	"0"	"02327"	"MFN2_010075"	"g.12058910A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856931"	"0"	"30"	"1"	"12061511"	"12061511"	"subst"	"8.14525E-5"	"02330"	"MFN2_010069"	"g.12061511C>T"	""	""	""	"MFN2(NM_014874.3):c.870C>T (p.G290=), MFN2(NM_014874.4):c.870C>T (p.G290=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856932"	"0"	"30"	"1"	"12064067"	"12064067"	"subst"	"0.000377631"	"01943"	"MFN2_010076"	"g.12064067G>A"	""	""	""	"MFN2(NM_014874.3):c.1179G>A (p.M393I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856933"	"0"	"30"	"1"	"12066657"	"12066657"	"subst"	"9.34033E-5"	"01943"	"MFN2_000141"	"g.12066657G>A"	""	""	""	"MFN2(NM_014874.3):c.1779G>A (p.S593=), MFN2(NM_014874.4):c.1779G>A (p.S593=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000873506"	"0"	"70"	"1"	"12056286"	"12056286"	"subst"	"0"	"00000"	"MFN2_010078"	"g.12056286A>G"	"147"	"{PMID:Sun 2018:30076350}"	""	"MFN2(NM_014874.3):c.385A>G(p.T129A)"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.11996229A>G"	""	"likely pathogenic"	""
"0000882735"	"0"	"30"	"1"	"12059080"	"12059080"	"subst"	"0.00137248"	"02326"	"MFN2_000130"	"g.12059080C>T"	""	""	""	"MFN2(NM_014874.3):c.744C>T (p.L248=), MFN2(NM_014874.4):c.744C>T (p.L248=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000882736"	"0"	"30"	"1"	"12061859"	"12061859"	"subst"	"4.06062E-6"	"02327"	"MFN2_010079"	"g.12061859T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000882737"	"0"	"30"	"1"	"12064941"	"12064941"	"subst"	"0.000859346"	"02326"	"MFN2_000137"	"g.12064941G>A"	""	""	""	"MFN2(NM_014874.3):c.1452G>A (p.T484=), MFN2(NM_014874.4):c.1452G>A (p.T484=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000882738"	"0"	"50"	"1"	"12067167"	"12067167"	"subst"	"8.12203E-6"	"02327"	"MFN2_010080"	"g.12067167C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000882739"	"0"	"50"	"1"	"12069756"	"12069756"	"subst"	"0"	"02330"	"MFN2_010081"	"g.12069756C>T"	""	""	""	"MFN2(NM_014874.4):c.2177C>T (p.S726L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000882740"	"0"	"10"	"1"	"12071540"	"12071540"	"subst"	"0.00325229"	"02330"	"MFN2_010082"	"g.12071540C>A"	""	""	""	"MFN2(NM_014874.3):c.2205-13C>A, MFN2(NM_014874.4):c.2205-13C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000910759"	"0"	"30"	"1"	"12061574"	"12061574"	"subst"	"2.84287E-5"	"02330"	"MFN2_010021"	"g.12061574C>T"	""	""	""	"MFN2(NM_014874.3):c.933C>T (p.N311=), MFN2(NM_014874.4):c.933C>T (p.N311=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000910760"	"0"	"30"	"1"	"12064993"	"12064993"	"subst"	"0.000536042"	"02326"	"MFN2_000172"	"g.12064993C>T"	""	""	""	"MFN2(NM_014874.3):c.1495+9C>T, MFN2(NM_014874.4):c.1495+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000910761"	"0"	"30"	"1"	"12071540"	"12071540"	"subst"	"0.00325229"	"02326"	"MFN2_010082"	"g.12071540C>A"	""	""	""	"MFN2(NM_014874.3):c.2205-13C>A, MFN2(NM_014874.4):c.2205-13C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000927997"	"0"	"70"	"1"	"12061479"	"12061479"	"subst"	"0"	"02330"	"MFN2_010083"	"g.12061479C>T"	""	""	""	"MFN2(NM_014874.4):c.838C>T (p.R280C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000936295"	"0"	"50"	"1"	"12057477"	"12057477"	"subst"	"0"	"00006"	"MFN2_010084"	"g.12057477A>G"	""	"{PMID:Hamdan 2017:29100083}"	""	"NM_014874:c.A598G (S200G)"	""	"De novo"	""	""	"0"	""	""	""	""	"VUS"	""
"0000946950"	"0"	"90"	"1"	"12062126"	"12062126"	"subst"	"0"	"02330"	"MFN2_000064"	"g.12062126A>G"	""	""	""	"MFN2(NM_014874.4):c.1126A>G (p.M376V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000960418"	"0"	"50"	"1"	"12052698"	"12052698"	"subst"	"0"	"02330"	"MFN2_010034"	"g.12052698A>T"	""	""	""	"MFN2(NM_014874.4):c.262A>T (p.I88F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000960419"	"0"	"50"	"1"	"12058853"	"12058853"	"subst"	"0"	"02330"	"MFN2_010085"	"g.12058853T>A"	""	""	""	"MFN2(NM_014874.4):c.626T>A (p.L209Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000971994"	"0"	"70"	"1"	"12069750"	"12069750"	"subst"	"0"	"03779"	"MFN2_000085"	"g.12069750T>C"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1557537346"	"0"	""	""	""	""	"likely pathogenic"	""
"0000973242"	"0"	"10"	"1"	"12052605"	"12052605"	"subst"	"0.000357337"	"02330"	"MFN2_010086"	"g.12052605C>T"	""	""	""	"MFN2(NM_014874.4):c.176-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000973246"	"0"	"10"	"1"	"12056440"	"12056440"	"subst"	"0"	"02326"	"MFN2_010035"	"g.12056440C>T"	""	""	""	"MFN2(NM_014874.3):c.474+65C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000973249"	"0"	"10"	"1"	"12058628"	"12058632"	"del"	"0"	"02326"	"MFN2_010087"	"g.12058628_12058632del"	""	""	""	"MFN2(NM_014874.3):c.600-199_600-195delAAACA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000973254"	"0"	"10"	"1"	"12062205"	"12062205"	"subst"	"0.652742"	"02326"	"MFN2_000136"	"g.12062205A>G"	""	""	""	"MFN2(NM_014874.3):c.1160+45A>G, MFN2(NM_014874.4):c.1160+45A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000973255"	"0"	"10"	"1"	"12067044"	"12067044"	"subst"	"0"	"02326"	"MFN2_010048"	"g.12067044T>G"	""	""	""	"MFN2(NM_014874.3):c.1873-66T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000973256"	"0"	"90"	"1"	"12071606"	"12071606"	"dup"	"0"	"01804"	"MFN2_000099"	"g.12071606dup"	""	""	""	"MFN2(NM_014874.3):c.2258dupT (p.Q754Afs*9), MFN2(NM_014874.4):c.2258dup (p.(Gln754AlafsTer9)), MFN2(NM_014874.4):c.2258dupT (p.Q754Afs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000973257"	"0"	"10"	"1"	"12071680"	"12071680"	"subst"	"0"	"02326"	"MFN2_000144"	"g.12071680A>G"	""	""	""	"MFN2(NM_014874.3):c.*58A>G, MFN2(NM_014874.4):c.*58A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000985155"	"0"	"90"	"1"	"12058856"	"12058856"	"subst"	"0"	"03779"	"MFN2_010088"	"g.12058856A>G"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1639043704"	"0"	""	""	""	""	"pathogenic"	""
"0000990187"	"0"	"30"	"1"	"12061533"	"12061533"	"subst"	"0.00207541"	"01804"	"MFN2_000054"	"g.12061533G>A"	""	""	""	"MFN2(NM_014874.3):c.892G>A (p.G298R, p.(Gly298Arg)), MFN2(NM_014874.4):c.892G>A (p.G298R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990188"	"0"	"30"	"1"	"12065846"	"12065846"	"subst"	"0.000186785"	"02330"	"MFN2_000174"	"g.12065846A>G"	""	""	""	"MFN2(NM_014874.3):c.1574A>G (p.N525S, p.(Asn525Ser)), MFN2(NM_014874.4):c.1574A>G (p.N525S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990189"	"0"	"30"	"1"	"12065846"	"12065846"	"subst"	"0.000186785"	"01804"	"MFN2_000174"	"g.12065846A>G"	""	""	""	"MFN2(NM_014874.3):c.1574A>G (p.N525S, p.(Asn525Ser)), MFN2(NM_014874.4):c.1574A>G (p.N525S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000990190"	"0"	"50"	"1"	"12065846"	"12065846"	"subst"	"0"	"01804"	"MFN2_010089"	"g.12065846A>T"	""	""	""	"MFN2(NM_014874.3):c.1574A>T (p.(Asn525Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001008576"	"1"	"30"	"1"	"12059085"	"12059085"	"subst"	"0.000223332"	"00095"	"MFN2_000040"	"g.12059085G>A"	""	"{PMID:Legati 2016:26968897}"	""	"R250Q"	""	"Germline"	""	""	"0"	""	""	"g.11999028G>A"	""	"likely benign"	""
"0001020277"	"0"	"30"	"1"	"12064191"	"12064191"	"subst"	"0"	"03779"	"MFN2_010090"	"g.12064191G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0001023912"	"0"	"50"	"1"	"12057461"	"12057461"	"subst"	"0"	"01164"	"MFN2_010091"	"g.12057461C>A"	""	""	""	""	"ACMG: PP3_MOD, PM2_SUP, PP2 (VUS-high)"	"Germline"	"?"	""	""	""	""	"g.11997404C>A"	""	"VUS"	"ACMG"
"0001031130"	"0"	"50"	"1"	"12049344"	"12049344"	"subst"	"8.12123E-6"	"01804"	"MFN2_000160"	"g.12049344A>G"	""	""	""	"MFN2(NM_014874.3):c.119A>G (p.N40S), MFN2(NM_014874.4):c.119A>G (p.(Asn40Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031135"	"0"	"50"	"1"	"12057472"	"12057472"	"subst"	"0"	"01804"	"MFN2_010092"	"g.12057472T>G"	""	""	""	"MFN2(NM_014874.4):c.593T>G (p.(Met198Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001031139"	"0"	"50"	"1"	"12064101"	"12064101"	"subst"	"4.06055E-6"	"01804"	"MFN2_010093"	"g.12064101G>A"	""	""	""	"MFN2(NM_014874.4):c.1213G>A (p.(Asp405Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044853"	"0"	"50"	"1"	"12061563"	"12061563"	"subst"	"0"	"03779"	"MFN2_010094"	"g.12061563G>A"	""	""	""	""	""	"Unknown"	""	"rs1553143852"	"0"	""	""	""	""	"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 MFN2
## Count = 413
"{{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}}"
"0000000172"	"00012066"	"70"	"20"	"0"	"20"	"0"	"c.20G>A"	"r.(?)"	"p.(Arg7Gln)"	""
"0000021303"	"00012066"	"70"	"109"	"0"	"109"	"0"	"c.109A>G"	"r.(?)"	"p.(Lys37Glu)"	"3"
"0000063314"	"00012066"	"90"	"314"	"0"	"314"	"0"	"c.314C>T"	"r.(?)"	"p.(Thr105Met)"	"5"
"0000063315"	"00012066"	"50"	"600"	"-30"	"600"	"-30"	"c.600-30G>C"	"r.(=)"	"p.(=)"	"6i"
"0000063316"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"14"
"0000063317"	"00012066"	"50"	"522"	"0"	"522"	"0"	"c.522T>C"	"r.(=)"	"p.(=)"	"6"
"0000063318"	"00012066"	"90"	"1157"	"0"	"1158"	"0"	"c.1157_1158insCATGGCGGCTCGGGAAAACATGGCGGCTCGGGAAAA"	"r.(?)"	"p.(Gln386delinsHisMetAlaAlaArgGluAsnMetAlaAlaArgGluLys)"	"11"
"0000063319"	"00012066"	"50"	"3641"	"0"	"3641"	"0"	"c.*1367C>T"	"r.(=)"	"p.(=)"	"19"
"0000063320"	"00012066"	"90"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104Trp)"	"4"
"0000063321"	"00012066"	"50"	"2706"	"0"	"2706"	"0"	"c.*432dup"	"r.(=)"	"p.(=)"	"19"
"0000063322"	"00012066"	"50"	"3007"	"0"	"3008"	"0"	"c.*733_*734del"	"r.(=)"	"p.(=)"	"19"
"0000063323"	"00012066"	"90"	"2113"	"0"	"2113"	"0"	"c.2113G>A"	"r.(?)"	"p.(Val705Ile)"	"18"
"0000063324"	"00012066"	"50"	"-4"	"-13"	"-4"	"-13"	"c.-4-13G>T"	"r.(=)"	"p.(=)"	"2i"
"0000063325"	"00012066"	"50"	"2687"	"0"	"2687"	"0"	"c.*413C>T"	"r.(=)"	"p.(=)"	"19"
"0000063326"	"00012066"	"50"	"1039"	"-25"	"1039"	"-25"	"c.1039-25C>T"	"r.(=)"	"p.(=)"	"10i"
"0000063327"	"00012066"	"50"	"3809"	"0"	"3809"	"0"	"c.*1535C>T"	"r.(=)"	"p.(=)"	"19"
"0000126806"	"00012066"	"70"	"385"	"0"	"385"	"0"	"c.385A>C"	"r.(?)"	"p.(Thr129Pro)"	"5"
"0000126807"	"00012066"	"70"	"974"	"0"	"974"	"0"	"c.974del"	"r.(?)"	"p.(Gly325Alafs*9)"	"10"
"0000126808"	"00012066"	"50"	"582"	"0"	"582"	"0"	"c.582C>G"	"r.(?)"	"p.(Asp194Glu)"	"6"
"0000126809"	"00012066"	"50"	"2258"	"0"	"2258"	"0"	"c.2258dup"	"r.(?)"	"p.(Gln754Alafs*9)"	"19"
"0000126815"	"00012066"	"90"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364Trp)"	"11"
"0000126823"	"00012066"	"90"	"134"	"0"	"134"	"0"	"c.134A>G"	"r.(?)"	"p.(Gln45Arg)"	"3"
"0000126824"	"00012066"	"90"	"205"	"0"	"205"	"0"	"c.205G>T"	"r.(?)"	"p.(Val69Phe)"	"4"
"0000126825"	"00012066"	"90"	"227"	"0"	"227"	"0"	"c.227T>C"	"r.(?)"	"p.(Leu76Pro)"	"4"
"0000126826"	"00012066"	"90"	"275"	"0"	"275"	"0"	"c.275T>C"	"r.(?)"	"p.(Leu92Pro)"	"4"
"0000126827"	"00012066"	"90"	"275"	"0"	"275"	"0"	"c.275T>G"	"r.(?)"	"p.(Leu92Arg)"	"4"
"0000126828"	"00012066"	"90"	"280"	"0"	"280"	"0"	"c.280C>T"	"r.(?)"	"p.(Arg94Trp)"	"4"
"0000126829"	"00012066"	"90"	"281"	"0"	"281"	"0"	"c.281G>A"	"r.(?)"	"p.(Arg94Gln)"	"4"
"0000126830"	"00012066"	"90"	"292"	"0"	"292"	"0"	"c.292A>G"	"r.(?)"	"p.(Lys98Glu)"	"4"
"0000126831"	"00012066"	"90"	"299"	"0"	"299"	"0"	"c.299C>G"	"r.(?)"	"p.(Ala100Gly)"	"4"
"0000126832"	"00012066"	"90"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104Trp)"	"4"
"0000126833"	"00012066"	"90"	"314"	"0"	"314"	"0"	"c.314C>T"	"r.(?)"	"p.(Thr105Met)"	"5"
"0000126834"	"00012066"	"90"	"322"	"0"	"322"	"0"	"c.322G>A"	"r.(?)"	"p.(Gly108Arg)"	"5"
"0000126835"	"00012066"	"90"	"368"	"0"	"368"	"0"	"c.368C>T"	"r.(?)"	"p.(Pro123Leu)"	"5"
"0000126836"	"00012066"	"90"	"380"	"0"	"380"	"0"	"c.380G>A"	"r.(?)"	"p.(Gly127Asp)"	"5"
"0000126837"	"00012066"	"90"	"380"	"0"	"380"	"0"	"c.380G>T"	"r.(?)"	"p.(Gly127Val)"	"5"
"0000126838"	"00012066"	"90"	"383"	"0"	"383"	"0"	"c.383A>G"	"r.(?)"	"p.(His128Arg)"	"5"
"0000126839"	"00012066"	"90"	"392"	"0"	"392"	"0"	"c.392A>G"	"r.(?)"	"p.(Asn131Ser)"	"5"
"0000126840"	"00012066"	"90"	"395"	"0"	"395"	"0"	"c.395G>A"	"r.(?)"	"p.(Cys132Tyr)"	"5"
"0000126841"	"00012066"	"90"	"436"	"0"	"436"	"0"	"c.436C>T"	"r.(?)"	"p.(Leu146Phe)"	"5"
"0000126842"	"00012066"	"90"	"467"	"0"	"467"	"0"	"c.467G>T"	"r.(?)"	"p.(Ser156Ile)"	"5"
"0000126843"	"00012066"	"90"	"491"	"0"	"491"	"0"	"c.491C>T"	"r.(?)"	"p.(Ala164Val)"	"6"
"0000126844"	"00012066"	"90"	"493"	"0"	"493"	"0"	"c.493C>G"	"r.(?)"	"p.(His165Asp)"	"6"
"0000126845"	"00012066"	"90"	"493"	"0"	"493"	"0"	"c.493C>T"	"r.(?)"	"p.(His165Tyr)"	"6"
"0000126846"	"00012066"	"90"	"494"	"0"	"494"	"0"	"c.494A>G"	"r.(?)"	"p.(His165Arg)"	"6"
"0000126847"	"00012066"	"90"	"494"	"0"	"494"	"0"	"c.494A>T"	"r.(?)"	"p.(His165Leu)"	"6"
"0000126848"	"00012066"	"90"	"609"	"0"	"609"	"0"	"c.609T>G"	"r.(?)"	"p.(Ile203Met)"	"7"
"0000126849"	"00012066"	"90"	"617"	"0"	"617"	"0"	"c.617C>T"	"r.(?)"	"p.(Thr206Ile)"	"7"
"0000126850"	"00012066"	"90"	"638"	"0"	"638"	"0"	"c.638T>C"	"r.(?)"	"p.(Ile213Thr)"	"7"
"0000126851"	"00012066"	"90"	"640"	"0"	"640"	"0"	"c.640G>A"	"r.(?)"	"p.(Asp214Asn)"	"7"
"0000126852"	"00012066"	"90"	"647"	"0"	"647"	"0"	"c.647T>C"	"r.(?)"	"p.(Phe216Ser)"	"7"
"0000126853"	"00012066"	"90"	"669"	"0"	"669"	"0"	"c.669T>A"	"r.(?)"	"p.(Phe223Leu)"	"7"
"0000126854"	"00012066"	"90"	"694"	"0"	"694"	"0"	"c.694A>G"	"r.(?)"	"p.(Thr232Ala)"	"7"
"0000126855"	"00012066"	"90"	"707"	"0"	"707"	"0"	"c.707C>T"	"r.(?)"	"p.(Thr236Met)"	"7"
"0000126856"	"00012066"	"90"	"718"	"0"	"718"	"0"	"c.718T>A"	"r.(?)"	"p.(Phe240Ile)"	"8"
"0000126857"	"00012066"	"90"	"730"	"0"	"730"	"0"	"c.730G>A"	"r.(?)"	"p.(Val244Met)"	"8"
"0000126858"	"00012066"	"90"	"742"	"0"	"742"	"0"	"c.742C>G"	"r.(?)"	"p.(Leu248Val)"	"8"
"0000126859"	"00012066"	"90"	"746"	"0"	"746"	"0"	"c.746C>T"	"r.(?)"	"p.(Ser249Phe)"	"8"
"0000126860"	"00012066"	"90"	"748"	"0"	"748"	"0"	"c.748C>T"	"r.(?)"	"p.(Arg250Trp)"	"8"
"0000126861"	"00012066"	"90"	"749"	"0"	"749"	"0"	"c.749G>A"	"r.(?)"	"p.(Arg250Gln)"	"8"
"0000126862"	"00012066"	"90"	"751"	"0"	"751"	"0"	"c.751C>G"	"r.(?)"	"p.(Pro251Ala)"	"8"
"0000126863"	"00012066"	"90"	"752"	"0"	"752"	"0"	"c.752C>G"	"r.(?)"	"p.(Pro251Arg)"	"8"
"0000126865"	"00012066"	"90"	"776"	"0"	"776"	"0"	"c.776G>T"	"r.(?)"	"p.(Arg259Leu)"	"8"
"0000126866"	"00012066"	"90"	"787"	"0"	"787"	"0"	"c.787T>C"	"r.(?)"	"p.(Ser263Pro)"	"8"
"0000126867"	"00012066"	"90"	"818"	"0"	"818"	"0"	"c.818T>G"	"r.(?)"	"p.(Val273Gly)"	"9"
"0000126868"	"00012066"	"90"	"821"	"0"	"821"	"0"	"c.821G>A"	"r.(?)"	"p.(Arg274Gln)"	"9"
"0000126869"	"00012066"	"90"	"827"	"0"	"827"	"0"	"c.827A>G"	"r.(?)"	"p.(Gln276Arg)"	"9"
"0000126870"	"00012066"	"90"	"828"	"0"	"828"	"0"	"c.828G>C"	"r.(?)"	"p.(Gln276His)"	"9"
"0000126871"	"00012066"	"90"	"829"	"0"	"829"	"0"	"c.829C>T"	"r.(?)"	"p.(His277Tyr)"	"9"
"0000126872"	"00012066"	"90"	"830"	"0"	"830"	"0"	"c.830A>G"	"r.(?)"	"p.(His277Arg)"	"9"
"0000126873"	"00012066"	"90"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	"9"
"0000126874"	"00012066"	"90"	"851"	"0"	"851"	"0"	"c.851T>A"	"r.(?)"	"p.(Phe284Tyr)"	"9"
"0000126875"	"00012066"	"90"	"892"	"0"	"892"	"0"	"c.892G>A"	"r.(?)"	"p.(Gly298Arg)"	"9"
"0000126876"	"00012066"	"90"	"922"	"0"	"922"	"0"	"c.922G>T"	"r.(?)"	"p.(Glu308*)"	"9"
"0000126877"	"00012066"	"90"	"1040"	"0"	"1040"	"0"	"c.1040A>T"	"r.(?)"	"p.(Glu347Val)"	"11"
"0000126878"	"00012066"	"90"	"1048"	"0"	"1048"	"0"	"c.1048T>C"	"r.(?)"	"p.(Ser350Pro)"	"11"
"0000126879"	"00012066"	"90"	"1071"	"0"	"1071"	"0"	"c.1071G>C"	"r.(?)"	"p.(Lys357Asn)"	"11"
"0000126880"	"00012066"	"90"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(His361Tyr)"	"11"
"0000126881"	"00012066"	"90"	"1085"	"0"	"1085"	"0"	"c.1085C>T"	"r.(?)"	"p.(Thr362Met)"	"11"
"0000126882"	"00012066"	"90"	"1091"	"0"	"1091"	"0"	"c.1091G>A"	"r.(?)"	"p.(Arg364Gln)"	"11"
"0000126883"	"00012066"	"90"	"1091"	"0"	"1091"	"0"	"c.1091G>C"	"r.(?)"	"p.(Arg364Pro)"	"11"
"0000126884"	"00012066"	"90"	"1126"	"0"	"1126"	"0"	"c.1126A>C"	"r.(?)"	"p.(Met376Leu)"	"11"
"0000126885"	"00012066"	"90"	"1126"	"0"	"1126"	"0"	"c.1126A>G"	"r.(?)"	"p.(Met376Val)"	"11"
"0000126886"	"00012066"	"90"	"1127"	"0"	"1127"	"0"	"c.1127T>C"	"r.(?)"	"p.(Met376Thr)"	"11"
"0000126887"	"00012066"	"90"	"1128"	"0"	"1128"	"0"	"c.1128G>A"	"r.(?)"	"p.(Met376Ile)"	"11"
"0000126888"	"00012066"	"90"	"1132"	"0"	"1132"	"0"	"c.1132T>C"	"r.(?)"	"p.(Ser378Pro)"	"11"
"0000126889"	"00012066"	"90"	"1148"	"0"	"1148"	"0"	"c.1148C>T"	"r.(?)"	"p.(Ala383Val)"	"11"
"0000126890"	"00012066"	"90"	"1168"	"0"	"1168"	"0"	"c.1168T>C"	"r.(?)"	"p.(Cys390Arg)"	"12"
"0000126891"	"00012066"	"90"	"1169"	"0"	"1169"	"0"	"c.1169G>T"	"r.(?)"	"p.(Cys390Phe)"	"12"
"0000126892"	"00012066"	"90"	"1198"	"0"	"1198"	"0"	"c.1198C>T"	"r.(?)"	"p.(Arg400*)"	"12"
"0000126893"	"00012066"	"90"	"1199"	"0"	"1199"	"0"	"c.1199G>C"	"r.(?)"	"p.(Arg400Pro)"	"12"
"0000126894"	"00012066"	"90"	"1252"	"0"	"1252"	"0"	"c.1252C>T"	"r.(?)"	"p.(Arg418*)"	"12"
"0000126895"	"00012066"	"90"	"1271"	"0"	"1271"	"0"	"c.1271A>G"	"r.(?)"	"p.(Glu424Gly)"	"12"
"0000126896"	"00012066"	"90"	"1367"	"0"	"1367"	"0"	"c.1367C>T"	"r.(?)"	"p.(Pro456Leu)"	"13"
"0000126897"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"14"
"0000126898"	"00012066"	"90"	"1556"	"0"	"1556"	"0"	"c.1556G>C"	"r.(?)"	"p.(Arg519Pro)"	"15"
"0000126899"	"00012066"	"90"	"1709"	"0"	"1709"	"0"	"c.1709A>G"	"r.(?)"	"p.(Asn570Ser)"	"15"
"0000126900"	"00012066"	"90"	"1994"	"0"	"1994"	"0"	"c.1994T>C"	"r.(?)"	"p.(Phe665Ser)"	"17"
"0000126901"	"00012066"	"90"	"2113"	"0"	"2113"	"0"	"c.2113G>A"	"r.(?)"	"p.(Val705Ile)"	"18"
"0000126902"	"00012066"	"90"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Arg707Trp)"	"18"
"0000126903"	"00012066"	"90"	"2129"	"0"	"2129"	"0"	"c.2129T>C"	"r.(?)"	"p.(Leu710Pro)"	"18"
"0000126904"	"00012066"	"90"	"2140"	"0"	"2140"	"0"	"c.2140A>G"	"r.(?)"	"p.(Ile714Val)"	"18"
"0000126905"	"00012066"	"90"	"2146"	"0"	"2146"	"0"	"c.2146G>A"	"r.(?)"	"p.(Ala716Thr)"	"18"
"0000126906"	"00012066"	"90"	"2171"	"0"	"2171"	"0"	"c.2171T>C"	"r.(?)"	"p.(Leu724Pro)"	"18"
"0000126907"	"00012066"	"90"	"2200"	"0"	"2200"	"0"	"c.2200C>G"	"r.(?)"	"p.(Leu734Val)"	"18"
"0000126908"	"00012066"	"90"	"2213"	"0"	"2213"	"0"	"c.2213C>T"	"r.(?)"	"p.(Ala738Val)"	"19"
"0000126909"	"00012066"	"90"	"2219"	"0"	"2219"	"0"	"c.2219G>C"	"r.(?)"	"p.(Trp740Ser)"	"19"
"0000126910"	"00012066"	"90"	"2220"	"0"	"2220"	"0"	"c.2220G>C"	"r.(?)"	"p.(Trp740Cys)"	"19"
"0000126911"	"00012066"	"90"	"2234"	"0"	"2234"	"0"	"c.2234T>C"	"r.(?)"	"p.(Leu745Pro)"	"19"
"0000126912"	"00012066"	"90"	"2240"	"0"	"2240"	"0"	"c.2240T>C"	"r.(?)"	"p.(Met747Thr)"	"19"
"0000126913"	"00012066"	"90"	"2249"	"0"	"2249"	"0"	"c.2249A>C"	"r.(?)"	"p.(His750Pro)"	"19"
"0000126914"	"00012066"	"90"	"2251"	"0"	"2251"	"0"	"c.2251C>T"	"r.(?)"	"p.(Gln751*)"	"19"
"0000126915"	"00012066"	"90"	"2256"	"0"	"2256"	"0"	"c.2256C>A"	"r.(?)"	"p.(Tyr752*)"	"19"
"0000126916"	"00012066"	"90"	"113"	"0"	"115"	"0"	"c.113_115del"	"r.(?)"	"p.(Lys38del)"	"3"
"0000126917"	"00012066"	"90"	"1134"	"0"	"1142"	"0"	"c.1134_1142del"	"r.(?)"	"p.(Leu379_Met381del)"	"11"
"0000126918"	"00012066"	"90"	"1157"	"0"	"1158"	"0"	"c.1157_1158inv"	"r.(?)"	"p.(Gln386Pro)"	"11"
"0000126919"	"00012066"	"90"	"2120"	"0"	"2128"	"0"	"c.2120_2128del"	"r.(?)"	"p.(Arg707_Asn709del)"	"18"
"0000126920"	"00012066"	"90"	"2258"	"0"	"2258"	"0"	"c.2258dup"	"r.(?)"	"p.(Gln754Alafs*9)"	"19"
"0000130034"	"00012066"	"90"	"250"	"0"	"250"	"0"	"c.250A>G"	"r.(?)"	"p.(Lys84Glu)"	""
"0000169168"	"00012066"	"50"	"541"	"0"	"541"	"0"	"c.541G>A"	"r.(?)"	"p.(Val181Met)"	"6"
"0000245496"	"00012066"	"10"	"-367"	"0"	"-367"	"0"	"c.-367A>G"	"r.(?)"	"p.(=)"	""
"0000245497"	"00012066"	"10"	"1160"	"45"	"1160"	"45"	"c.1160+45A>G"	"r.(=)"	"p.(=)"	""
"0000245498"	"00012066"	"10"	"2332"	"0"	"2332"	"0"	"c.*58A>G"	"r.(=)"	"p.(=)"	""
"0000245547"	"00012066"	"70"	"689"	"0"	"689"	"0"	"c.689A>C"	"r.(?)"	"p.(Glu230Ala)"	""
"0000245557"	"00012066"	"90"	"1040"	"0"	"1040"	"0"	"c.1040A>T"	"r.(?)"	"p.(Glu347Val)"	""
"0000245567"	"00012066"	"90"	"827"	"0"	"827"	"0"	"c.827A>G"	"r.(?)"	"p.(Gln276Arg)"	""
"0000245568"	"00012066"	"90"	"1157"	"0"	"1157"	"0"	"c.1157A>C"	"r.(?)"	"p.(Gln386Pro)"	""
"0000255117"	"00012066"	"30"	"408"	"0"	"408"	"0"	"c.408A>T"	"r.(?)"	"p.(Val136=)"	""
"0000279685"	"00012066"	"10"	"-212"	"0"	"-212"	"0"	"c.-212T>C"	"r.(?)"	"p.(=)"	""
"0000279686"	"00012066"	"30"	"-4"	"-13"	"-4"	"-13"	"c.-4-13G>T"	"r.(=)"	"p.(=)"	""
"0000279687"	"00012066"	"10"	"3170"	"0"	"3170"	"0"	"c.*896G>C"	"r.(=)"	"p.(=)"	""
"0000279688"	"00012066"	"10"	"3186"	"0"	"3186"	"0"	"c.*912C>T"	"r.(=)"	"p.(=)"	""
"0000279689"	"00012066"	"10"	"1039"	"-19"	"1039"	"-19"	"c.1039-19G>A"	"r.(=)"	"p.(=)"	""
"0000279690"	"00012066"	"90"	"1048"	"0"	"1048"	"0"	"c.1048T>C"	"r.(?)"	"p.(Ser350Pro)"	""
"0000279691"	"00012066"	"90"	"1071"	"0"	"1071"	"0"	"c.1071G>C"	"r.(?)"	"p.(Lys357Asn)"	""
"0000279692"	"00012066"	"90"	"1081"	"0"	"1081"	"0"	"c.1081C>T"	"r.(?)"	"p.(His361Tyr)"	""
"0000279693"	"00012066"	"90"	"1085"	"0"	"1085"	"0"	"c.1085C>T"	"r.(?)"	"p.(Thr362Met)"	""
"0000279694"	"00012066"	"90"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364Trp)"	""
"0000279695"	"00012066"	"70"	"1127"	"0"	"1127"	"0"	"c.1127T>C"	"r.(?)"	"p.(Met376Thr)"	""
"0000279696"	"00012066"	"90"	"1128"	"0"	"1128"	"0"	"c.1128G>A"	"r.(?)"	"p.(Met376Ile)"	""
"0000279697"	"00012066"	"90"	"1148"	"0"	"1148"	"0"	"c.1148C>T"	"r.(?)"	"p.(Ala383Val)"	""
"0000279698"	"00012066"	"90"	"1158"	"0"	"1158"	"0"	"c.1158G>T"	"r.(?)"	"p.(Gln386His)"	""
"0000279699"	"00012066"	"90"	"1198"	"0"	"1198"	"0"	"c.1198C>T"	"r.(?)"	"p.(Arg400Ter)"	""
"0000279700"	"00012066"	"90"	"1252"	"0"	"1252"	"0"	"c.1252C>T"	"r.(?)"	"p.(Arg418Ter)"	""
"0000279701"	"00012066"	"30"	"1452"	"0"	"1452"	"0"	"c.1452G>A"	"r.(?)"	"p.(Thr484=)"	""
"0000279702"	"00012066"	"10"	"1641"	"0"	"1641"	"0"	"c.1641C>T"	"r.(?)"	"p.(Leu547=)"	""
"0000279703"	"00012066"	"50"	"1687"	"0"	"1687"	"0"	"c.1687C>T"	"r.(?)"	"p.(Arg563Cys)"	""
"0000279704"	"00012066"	"10"	"175"	"9"	"175"	"9"	"c.175+9G>A"	"r.(=)"	"p.(=)"	""
"0000279705"	"00012066"	"10"	"1779"	"0"	"1779"	"0"	"c.1779G>A"	"r.(?)"	"p.(Ser593=)"	""
"0000279706"	"00012066"	"90"	"205"	"0"	"205"	"0"	"c.205G>T"	"r.(?)"	"p.(Val69Phe)"	""
"0000279707"	"00012066"	"10"	"2113"	"0"	"2113"	"0"	"c.2113G>A"	"r.(?)"	"p.(Val705Ile)"	""
"0000279708"	"00012066"	"90"	"2129"	"0"	"2129"	"0"	"c.2129T>C"	"r.(?)"	"p.(Leu710Pro)"	""
"0000279709"	"00012066"	"10"	"2204"	"15"	"2204"	"15"	"c.2204+15T>C"	"r.(=)"	"p.(=)"	""
"0000279710"	"00012066"	"90"	"2219"	"0"	"2219"	"0"	"c.2219G>C"	"r.(?)"	"p.(Trp740Ser)"	""
"0000279711"	"00012066"	"90"	"2258"	"0"	"2258"	"0"	"c.2258dup"	"r.(?)"	"p.(Gln754AlafsTer9)"	""
"0000279712"	"00012066"	"90"	"227"	"0"	"227"	"0"	"c.227T>C"	"r.(?)"	"p.(Leu76Pro)"	""
"0000279713"	"00012066"	"90"	"275"	"0"	"275"	"0"	"c.275T>C"	"r.(?)"	"p.(Leu92Pro)"	""
"0000279714"	"00012066"	"90"	"280"	"0"	"280"	"0"	"c.280C>T"	"r.(?)"	"p.(Arg94Trp)"	""
"0000279715"	"00012066"	"90"	"281"	"0"	"281"	"0"	"c.281G>A"	"r.(?)"	"p.(Arg94Gln)"	""
"0000279716"	"00012066"	"90"	"299"	"0"	"299"	"0"	"c.299C>G"	"r.(?)"	"p.(Ala100Gly)"	""
"0000279717"	"00012066"	"90"	"314"	"0"	"314"	"0"	"c.314C>T"	"r.(?)"	"p.(Thr105Met)"	""
"0000279718"	"00012066"	"90"	"368"	"0"	"368"	"0"	"c.368C>T"	"r.(?)"	"p.(Pro123Leu)"	""
"0000279719"	"00012066"	"90"	"380"	"0"	"380"	"0"	"c.380G>A"	"r.(?)"	"p.(Gly127Asp)"	""
"0000279720"	"00012066"	"90"	"380"	"0"	"380"	"0"	"c.380G>T"	"r.(?)"	"p.(Gly127Val)"	""
"0000279721"	"00012066"	"90"	"493"	"0"	"493"	"0"	"c.493C>G"	"r.(?)"	"p.(His165Asp)"	""
"0000279722"	"00012066"	"90"	"493"	"0"	"493"	"0"	"c.493C>T"	"r.(?)"	"p.(His165Tyr)"	""
"0000279723"	"00012066"	"90"	"617"	"0"	"617"	"0"	"c.617C>T"	"r.(?)"	"p.(Thr206Ile)"	""
"0000279724"	"00012066"	"90"	"638"	"0"	"638"	"0"	"c.638T>C"	"r.(?)"	"p.(Ile213Thr)"	""
"0000279725"	"00012066"	"90"	"669"	"0"	"669"	"0"	"c.669T>A"	"r.(?)"	"p.(Phe223Leu)"	""
"0000279726"	"00012066"	"50"	"698"	"0"	"698"	"0"	"c.698T>C"	"r.(?)"	"p.(Leu233Pro)"	""
"0000279727"	"00012066"	"90"	"707"	"0"	"707"	"0"	"c.707C>T"	"r.(?)"	"p.(Thr236Met)"	""
"0000279728"	"00012066"	"90"	"730"	"0"	"730"	"0"	"c.730G>A"	"r.(?)"	"p.(Val244Met)"	""
"0000279729"	"00012066"	"30"	"744"	"0"	"744"	"0"	"c.744C>T"	"r.(?)"	"p.(Leu248=)"	""
"0000279730"	"00012066"	"50"	"748"	"0"	"748"	"0"	"c.748C>T"	"r.(?)"	"p.(Arg250Trp)"	""
"0000279731"	"00012066"	"50"	"749"	"0"	"749"	"0"	"c.749G>A"	"r.(?)"	"p.(Arg250Gln)"	""
"0000279732"	"00012066"	"90"	"751"	"0"	"751"	"0"	"c.751C>G"	"r.(?)"	"p.(Pro251Ala)"	""
"0000279733"	"00012066"	"90"	"787"	"0"	"787"	"0"	"c.787T>C"	"r.(?)"	"p.(Ser263Pro)"	""
"0000279734"	"00012066"	"90"	"818"	"0"	"818"	"0"	"c.818T>G"	"r.(?)"	"p.(Val273Gly)"	""
"0000279735"	"00012066"	"90"	"821"	"0"	"821"	"0"	"c.821G>A"	"r.(?)"	"p.(Arg274Gln)"	""
"0000279736"	"00012066"	"90"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	""
"0000279737"	"00012066"	"90"	"851"	"0"	"851"	"0"	"c.851T>A"	"r.(?)"	"p.(Phe284Tyr)"	""
"0000279738"	"00012066"	"10"	"892"	"0"	"892"	"0"	"c.892G>A"	"r.(?)"	"p.(Gly298Arg)"	""
"0000279739"	"00012066"	"10"	"957"	"0"	"957"	"0"	"c.957C>T"	"r.(?)"	"p.(Gly319=)"	""
"0000279740"	"00012066"	"10"	"970"	"19"	"970"	"19"	"c.970+19G>A"	"r.(=)"	"p.(=)"	""
"0000286567"	"00012066"	"30"	"-4"	"-13"	"-4"	"-13"	"c.-4-13G>T"	"r.(=)"	"p.(=)"	""
"0000286568"	"00012066"	"30"	"475"	"-10"	"475"	"-10"	"c.475-10C>G"	"r.(=)"	"p.(=)"	""
"0000291762"	"00012066"	"30"	"150"	"0"	"150"	"0"	"c.150C>A"	"r.(?)"	"p.(Ile50=)"	""
"0000291763"	"00012066"	"50"	"1529"	"0"	"1529"	"0"	"c.1529G>A"	"r.(?)"	"p.(Arg510Gln)"	""
"0000291764"	"00012066"	"30"	"1641"	"0"	"1641"	"0"	"c.1641C>T"	"r.(?)"	"p.(Leu547=)"	""
"0000291765"	"00012066"	"50"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Arg707Trp)"	""
"0000291766"	"00012066"	"30"	"444"	"0"	"444"	"0"	"c.444C>T"	"r.(?)"	"p.(Thr148=)"	""
"0000291767"	"00012066"	"30"	"892"	"0"	"892"	"0"	"c.892G>A"	"r.(?)"	"p.(Gly298Arg)"	""
"0000337046"	"00012066"	"90"	"708"	"1"	"708"	"1"	"c.708+1G>T"	"r.spl?"	"p.?"	""
"0000341201"	"00012066"	"70"	"490"	"0"	"490"	"0"	"c.490G>A"	"r.(?)"	"p.(Ala164Thr)"	""
"0000343228"	"00012066"	"50"	"1987"	"0"	"1987"	"0"	"c.1987C>T"	"r.(?)"	"p.(Arg663Cys)"	""
"0000347591"	"00012066"	"50"	"1504"	"0"	"1504"	"0"	"c.1504A>G"	"r.(?)"	"p.(Lys502Glu)"	""
"0000347998"	"00012066"	"50"	"722"	"0"	"722"	"0"	"c.722T>G"	"r.(?)"	"p.(Phe241Cys)"	""
"0000351710"	"00012066"	"90"	"2210"	"0"	"2210"	"0"	"c.2210A>T"	"r.(?)"	"p.(Lys737Ile)"	""
"0000439077"	"00012066"	"50"	"1556"	"0"	"1556"	"0"	"c.1556G>A"	"r.(?)"	"p.Arg519His"	""
"0000440019"	"00012066"	"50"	"404"	"0"	"404"	"0"	"c.404G>A"	"r.(?)"	"p.(Arg135Gln)"	""
"0000454967"	"00012066"	"90"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364Trp)"	""
"0000454968"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000454969"	"00012066"	"90"	"281"	"0"	"281"	"0"	"c.281G>A"	"r.(?)"	"p.(Arg94Gln)"	""
"0000454970"	"00012066"	"90"	"368"	"0"	"368"	"0"	"c.368C>T"	"r.(?)"	"p.(Pro123Leu)"	""
"0000454971"	"00012066"	"90"	"313"	"0"	"313"	"0"	"c.313A>G"	"r.(?)"	"p.(Thr105Ala)"	""
"0000454972"	"00012066"	"90"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Arg280His)"	""
"0000454973"	"00012066"	"70"	"1067"	"0"	"1067"	"0"	"c.1067C>A"	"r.(?)"	"p.(Thr356Asn)"	""
"0000455041"	"00012066"	"90"	"708"	"0"	"708"	"0"	"c.708G>A"	"r.(?)"	"p.(=)"	""
"0000455042"	"00012066"	"70"	"737"	"0"	"737"	"0"	"c.737A>T"	"r.(?)"	"p.(Glu246Val)"	""
"0000502766"	"00012066"	"30"	"58"	"0"	"58"	"0"	"c.58C>T"	"r.(?)"	"p.(His20Tyr)"	""
"0000502767"	"00012066"	"30"	"119"	"0"	"119"	"0"	"c.119A>G"	"r.(?)"	"p.(Asn40Ser)"	""
"0000502768"	"00012066"	"30"	"119"	"0"	"119"	"0"	"c.119A>G"	"r.(?)"	"p.(Asn40Ser)"	""
"0000502769"	"00012066"	"90"	"134"	"0"	"134"	"0"	"c.134A>G"	"r.(?)"	"p.(Gln45Arg)"	""
"0000502770"	"00012066"	"10"	"150"	"0"	"150"	"0"	"c.150C>A"	"r.(?)"	"p.(Ile50=)"	""
"0000502771"	"00012066"	"10"	"165"	"0"	"165"	"0"	"c.165C>T"	"r.(?)"	"p.(Thr55=)"	""
"0000502772"	"00012066"	"30"	"165"	"0"	"165"	"0"	"c.165C>T"	"r.(?)"	"p.(Thr55=)"	""
"0000502780"	"00012066"	"90"	"280"	"0"	"280"	"0"	"c.280C>T"	"r.(?)"	"p.(Arg94Trp)"	""
"0000502786"	"00012066"	"10"	"408"	"0"	"408"	"0"	"c.408A>T"	"r.(?)"	"p.(Val136=)"	""
"0000502787"	"00012066"	"30"	"425"	"0"	"425"	"0"	"c.425A>C"	"r.(?)"	"p.(His142Pro)"	""
"0000502791"	"00012066"	"30"	"475"	"-10"	"475"	"-10"	"c.475-10C>G"	"r.(=)"	"p.(=)"	""
"0000502792"	"00012066"	"90"	"494"	"0"	"494"	"0"	"c.494A>G"	"r.(?)"	"p.(His165Arg)"	""
"0000502793"	"00012066"	"30"	"663"	"0"	"663"	"0"	"c.663T>C"	"r.(?)"	"p.(Asp221=)"	""
"0000502794"	"00012066"	"30"	"693"	"0"	"693"	"0"	"c.693C>T"	"r.(?)"	"p.(Ser231=)"	""
"0000502795"	"00012066"	"50"	"743"	"0"	"743"	"0"	"c.743T>A"	"r.(?)"	"p.(Leu248His)"	""
"0000502796"	"00012066"	"50"	"751"	"0"	"751"	"0"	"c.751C>A"	"r.(?)"	"p.(Pro251Thr)"	""
"0000502803"	"00012066"	"90"	"830"	"0"	"830"	"0"	"c.830A>G"	"r.(?)"	"p.(His277Arg)"	""
"0000502804"	"00012066"	"10"	"891"	"0"	"891"	"0"	"c.891C>T"	"r.(?)"	"p.(Ala297=)"	""
"0000502805"	"00012066"	"30"	"891"	"0"	"891"	"0"	"c.891C>T"	"r.(?)"	"p.(Ala297=)"	""
"0000502806"	"00012066"	"30"	"975"	"0"	"975"	"0"	"c.975C>T"	"r.(?)"	"p.(Gly325=)"	""
"0000502807"	"00012066"	"50"	"1058"	"0"	"1058"	"0"	"c.1058C>T"	"r.(?)"	"p.(Ala353Val)"	""
"0000502808"	"00012066"	"30"	"1113"	"0"	"1113"	"0"	"c.1113G>A"	"r.(?)"	"p.(Ala371=)"	""
"0000502809"	"00012066"	"50"	"1199"	"0"	"1199"	"0"	"c.1199G>A"	"r.(?)"	"p.(Arg400Gln)"	""
"0000502810"	"00012066"	"90"	"1271"	"0"	"1271"	"0"	"c.1271A>G"	"r.(?)"	"p.(Glu424Gly)"	""
"0000502811"	"00012066"	"10"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000502812"	"00012066"	"50"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000502813"	"00012066"	"30"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000502814"	"00012066"	"10"	"1495"	"9"	"1495"	"9"	"c.1495+9C>T"	"r.(=)"	"p.(=)"	""
"0000502815"	"00012066"	"10"	"1569"	"0"	"1569"	"0"	"c.1569C>T"	"r.(?)"	"p.(Ser523=)"	""
"0000502816"	"00012066"	"50"	"1574"	"0"	"1574"	"0"	"c.1574A>G"	"r.(?)"	"p.(Asn525Ser)"	""
"0000502817"	"00012066"	"10"	"1717"	"-9"	"1717"	"-6"	"c.1717-9_1717-6del"	"r.(=)"	"p.(=)"	""
"0000502818"	"00012066"	"30"	"1770"	"0"	"1770"	"0"	"c.1770A>G"	"r.(?)"	"p.(Pro590=)"	""
"0000502819"	"00012066"	"10"	"2113"	"0"	"2113"	"0"	"c.2113G>A"	"r.(?)"	"p.(Val705Ile)"	""
"0000502820"	"00012066"	"90"	"2251"	"0"	"2251"	"0"	"c.2251C>T"	"r.(?)"	"p.(Gln751Ter)"	""
"0000502821"	"00012066"	"10"	"2289"	"0"	"2289"	"0"	"c.*15G>A"	"r.(=)"	"p.(=)"	""
"0000595627"	"00012066"	"70"	"280"	"0"	"280"	"0"	"c.280C>T"	"r.(?)"	"p.(Arg94Trp)"	""
"0000595628"	"00012066"	"50"	"306"	"0"	"306"	"0"	"c.306dup"	"r.(?)"	"p.(Gly103Trpfs*41)"	""
"0000595629"	"00012066"	"70"	"299"	"0"	"299"	"0"	"c.299C>T"	"r.(?)"	"p.(Ala100Val)"	""
"0000595630"	"00012066"	"70"	"650"	"0"	"650"	"0"	"c.650G>T"	"r.(?)"	"p.(Cys217Phe)"	""
"0000595631"	"00012066"	"70"	"752"	"0"	"752"	"0"	"c.752C>T"	"r.(?)"	"p.(Pro251Leu)"	""
"0000595632"	"00012066"	"50"	"609"	"0"	"609"	"0"	"c.609T>G"	"r.(?)"	"p.(Ile203Met)"	""
"0000595633"	"00012066"	"50"	"281"	"0"	"281"	"0"	"c.281G>A"	"r.(?)"	"p.(Arg94Gln)"	""
"0000595634"	"00012066"	"50"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104Trp)"	""
"0000595635"	"00012066"	"50"	"842"	"0"	"842"	"0"	"c.842G>C"	"r.(?)"	"p.(Cys281Ser)"	""
"0000598344"	"00012066"	"50"	"1102"	"0"	"1102"	"0"	"c.1102A>G"	"r.(?)"	"p.(Ile368Val)"	""
"0000604722"	"00012066"	"50"	"78"	"0"	"78"	"0"	"c.78A>G"	"r.(?)"	"p.(Ala26=)"	""
"0000604726"	"00012066"	"90"	"280"	"0"	"280"	"0"	"c.280C>T"	"r.(?)"	"p.(Arg94Trp)"	""
"0000604729"	"00012066"	"30"	"663"	"0"	"663"	"0"	"c.663T>C"	"r.(?)"	"p.(Asp221=)"	""
"0000604730"	"00012066"	"30"	"933"	"0"	"933"	"0"	"c.933C>T"	"r.(?)"	"p.(Asn311=)"	""
"0000604731"	"00012066"	"90"	"1397"	"0"	"1397"	"0"	"c.1397T>A"	"r.(?)"	"p.(Leu466Gln)"	""
"0000604732"	"00012066"	"70"	"1397"	"0"	"1397"	"0"	"c.1397T>A"	"r.(?)"	"p.(Leu466Gln)"	""
"0000604733"	"00012066"	"30"	"1452"	"0"	"1452"	"0"	"c.1452G>A"	"r.(?)"	"p.(Thr484=)"	""
"0000604734"	"00012066"	"30"	"1496"	"-15"	"1496"	"-15"	"c.1496-15T>G"	"r.(=)"	"p.(=)"	""
"0000604735"	"00012066"	"30"	"1827"	"0"	"1827"	"0"	"c.1827C>T"	"r.(?)"	"p.(Ser609=)"	""
"0000604736"	"00012066"	"70"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Arg707Trp)"	""
"0000620374"	"00012066"	"30"	"1827"	"0"	"1827"	"0"	"c.1827C>T"	"r.(?)"	"p.(Ser609=)"	""
"0000647363"	"00012066"	"90"	"280"	"0"	"280"	"0"	"c.280C>T"	"r.(?)"	"p.(Arg94Trp)"	""
"0000647364"	"00012066"	"70"	"707"	"0"	"707"	"0"	"c.707C>T"	"r.(?)"	"p.(Thr236Met)"	""
"0000647365"	"00012066"	"70"	"720"	"0"	"720"	"0"	"c.720C>A"	"r.(?)"	"p.(Phe240Leu)"	""
"0000647366"	"00012066"	"50"	"749"	"0"	"749"	"0"	"c.749G>A"	"r.(?)"	"p.(Arg250Gln)"	""
"0000647367"	"00012066"	"70"	"898"	"0"	"898"	"0"	"c.898C>T"	"r.(?)"	"p.(Arg300Cys)"	""
"0000647368"	"00012066"	"70"	"1085"	"0"	"1085"	"0"	"c.1085C>T"	"r.(?)"	"p.(Thr362Met)"	""
"0000647369"	"00012066"	"50"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000647370"	"00012066"	"50"	"1987"	"0"	"1987"	"0"	"c.1987C>T"	"r.(?)"	"p.(Arg663Cys)"	""
"0000647371"	"00012066"	"90"	"2256"	"0"	"2256"	"0"	"c.2256C>A"	"r.(?)"	"p.(Tyr752*)"	""
"0000653625"	"00012066"	"30"	"330"	"0"	"330"	"0"	"c.330C>T"	"r.(?)"	"p.(Ser110=)"	""
"0000653626"	"00012066"	"50"	"749"	"0"	"749"	"0"	"c.749G>A"	"r.(?)"	"p.(Arg250Gln)"	""
"0000653627"	"00012066"	"30"	"1146"	"0"	"1146"	"0"	"c.1146G>A"	"r.(?)"	"p.(Ala382=)"	""
"0000659693"	"00012066"	"50"	"541"	"0"	"541"	"0"	"c.541G>A"	"r.(?)"	"p.(Val181Met)"	""
"0000664021"	"00012066"	"90"	"280"	"0"	"280"	"0"	"c.280C>T"	"r.(?)"	"p.(Arg94Trp)"	""
"0000664022"	"00012066"	"90"	"1126"	"0"	"1126"	"0"	"c.1126A>G"	"r.(?)"	"p.(Met376Val)"	""
"0000664023"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000664024"	"00012066"	"90"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Arg707Trp)"	""
"0000664086"	"00012066"	"70"	"262"	"0"	"262"	"0"	"c.262A>T"	"r.(?)"	"p.(Ile88Phe)"	""
"0000664087"	"00012066"	"70"	"1085"	"0"	"1085"	"0"	"c.1085C>G"	"r.(?)"	"p.(Thr362Arg)"	""
"0000664088"	"00012066"	"70"	"2194"	"0"	"2194"	"0"	"c.2194A>G"	"r.(?)"	"p.(Lys732Glu)"	""
"0000664089"	"00012066"	"70"	"2230"	"0"	"2230"	"0"	"c.2230G>A"	"r.(?)"	"p.(Glu744Lys)"	""
"0000664129"	"00012066"	"90"	"280"	"0"	"280"	"0"	"c.280C>T"	"r.(?)"	"p.(Arg94Trp)"	""
"0000664130"	"00012066"	"90"	"1126"	"0"	"1126"	"0"	"c.1126A>G"	"r.(?)"	"p.(Met376Val)"	""
"0000664148"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000664158"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000664185"	"00012066"	"50"	"809"	"0"	"809"	"0"	"c.809T>C"	"r.(?)"	"p.(Met270Thr)"	""
"0000664186"	"00012066"	"50"	"1029"	"0"	"1031"	"0"	"c.1029_1031del"	"r.(?)"	"p.(Arg344del)"	""
"0000664192"	"00012066"	"70"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000664207"	"00012066"	"90"	"280"	"0"	"280"	"0"	"c.280C>T"	"r.(?)"	"p.(Arg94Trp)"	"4"
"0000664208"	"00012066"	"90"	"281"	"0"	"281"	"0"	"c.281G>A"	"r.(?)"	"p.(Arg94Gln)"	"4"
"0000664209"	"00012066"	"90"	"756"	"0"	"756"	"0"	"c.756C>A"	"r.(?)"	"p.(Asn252Lys)"	"8"
"0000664210"	"00012066"	"90"	"1091"	"0"	"1091"	"0"	"c.1091G>A"	"r.(?)"	"p.(Arg364Gln)"	"11"
"0000664211"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"14"
"0000664212"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"14"
"0000664213"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"14"
"0000664214"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"14"
"0000664215"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"14"
"0000664216"	"00012066"	"90"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	"14"
"0000664233"	"00012066"	"10"	"-387"	"0"	"-372"	"0"	"c.-387_-372del"	"r.(?)"	"p.(=)"	"1"
"0000664234"	"00012066"	"10"	"-367"	"0"	"-367"	"0"	"c.-367A>G"	"r.(?)"	"p.(=)"	"1"
"0000664235"	"00012066"	"10"	"-367"	"0"	"-367"	"0"	"c.-367A>G"	"r.(?)"	"p.(=)"	"1"
"0000664236"	"00012066"	"10"	"-212"	"0"	"-212"	"0"	"c.-212T>C"	"r.(?)"	"p.(=)"	"1"
"0000664237"	"00012066"	"10"	"-212"	"0"	"-212"	"0"	"c.-212T>C"	"r.(?)"	"p.(=)"	"1"
"0000664238"	"00012066"	"10"	"-149"	"-15"	"-149"	"-15"	"c.-149-15T>G"	"r.(?)"	"p.(=)"	"1i"
"0000664239"	"00012066"	"10"	"176"	"-207"	"176"	"-207"	"c.176-207G>A"	"r.(=)"	"p.(=)"	"3i"
"0000664240"	"00012066"	"10"	"176"	"-207"	"176"	"-207"	"c.176-207G>A"	"r.(?)"	"p.(=)"	"3i"
"0000664241"	"00012066"	"10"	"176"	"-179"	"176"	"-179"	"c.176-179C>A"	"r.(?)"	"p.(=)"	"3i"
"0000664242"	"00012066"	"10"	"474"	"65"	"474"	"65"	"c.474+65C>T"	"r.(=)"	"p.(=)"	"5i"
"0000664243"	"00012066"	"10"	"474"	"65"	"474"	"65"	"c.474+65C>T"	"r.(=)"	"p.(=)"	"5i"
"0000664244"	"00012066"	"10"	"600"	"-25"	"600"	"-25"	"c.600-25T>C"	"r.(=)"	"p.(=)"	"6i"
"0000664245"	"00012066"	"10"	"709"	"-32"	"709"	"-32"	"c.709-32C>T"	"r.(?)"	"p.(=)"	"7i"
"0000664246"	"00012066"	"10"	"957"	"0"	"957"	"0"	"c.957C>T"	"r.(?)"	"p.(Gly319=)"	"9"
"0000664247"	"00012066"	"10"	"892"	"0"	"892"	"0"	"c.892G>A"	"r.(?)"	"p.(Gly298Arg)"	"9"
"0000664248"	"00012066"	"10"	"1039"	"-19"	"1039"	"-19"	"c.1039-19G>A"	"r.(?)"	"p.(=)"	"10i"
"0000664249"	"00012066"	"10"	"1039"	"-22"	"1039"	"-22"	"c.1039-22T>C"	"r.(?)"	"p.(=)"	"10i"
"0000664250"	"00012066"	"10"	"1039"	"-41"	"1039"	"-41"	"c.1039-41C>G"	"r.(?)"	"p.(=)"	"10i"
"0000664251"	"00012066"	"10"	"1392"	"79"	"1392"	"79"	"c.1392+79C>A"	"r.(?)"	"p.(=)"	"13i"
"0000664252"	"00012066"	"10"	"1392"	"79"	"1392"	"79"	"c.1392+79C>T"	"r.(?)"	"p.(=)"	"13i"
"0000664253"	"00012066"	"10"	"1569"	"0"	"1569"	"0"	"c.1569C>T"	"r.(?)"	"p.(Ser523=)"	"15"
"0000664254"	"00012066"	"10"	"1872"	"68"	"1872"	"68"	"c.1872+68T>C"	"r.(?)"	"p.(=)"	"16i"
"0000664255"	"00012066"	"10"	"1873"	"-66"	"1873"	"-66"	"c.1873-66T>G"	"r.(?)"	"p.(=)"	"16i"
"0000664256"	"00012066"	"10"	"1873"	"63"	"1873"	"63"	"c.1873+63T>C"	"r.(?)"	"p.(=)"	"16i"
"0000664257"	"00012066"	"10"	"2070"	"-45"	"2070"	"-45"	"c.2070-45T>C"	"r.(?)"	"p.(=)"	"17i"
"0000664258"	"00012066"	"10"	"2204"	"15"	"2204"	"15"	"c.2204+15T>C"	"r.(?)"	"p.(=)"	"18i"
"0000664259"	"00012066"	"10"	"2332"	"0"	"2332"	"0"	"c.*58A>G"	"r.(?)"	"p.(=)"	"19i"
"0000664260"	"00012066"	"10"	"2332"	"0"	"2332"	"0"	"c.*58A>G"	"r.(?)"	"p.(=)"	"19i"
"0000664826"	"00012066"	"50"	"653"	"0"	"653"	"0"	"c.653T>C"	"r.(?)"	"p.(Leu218Pro)"	""
"0000667856"	"00012066"	"70"	"796"	"0"	"796"	"0"	"c.796G>A"	"r.(?)"	"p.(Glu266Lys)"	""
"0000675444"	"00012066"	"50"	"1480"	"0"	"1480"	"0"	"c.1480C>A"	"r.(?)"	"p.(Gln494Lys)"	""
"0000675445"	"00012066"	"70"	"2119"	"0"	"2119"	"0"	"c.2119C>T"	"r.(?)"	"p.(Arg707Trp)"	""
"0000687263"	"00012066"	"50"	"1894"	"0"	"1894"	"0"	"c.1894C>G"	"r.(?)"	"p.(Arg632Gly)"	""
"0000687838"	"00012066"	"50"	"1357"	"0"	"1357"	"0"	"c.1357C>T"	"r.(?)"	"p.(His453Tyr)"	""
"0000687839"	"00012066"	"50"	"1613"	"0"	"1613"	"0"	"c.1613A>G"	"r.(?)"	"p.(Gln538Arg)"	""
"0000687840"	"00012066"	"30"	"2113"	"0"	"2113"	"0"	"c.2113G>A"	"r.(?)"	"p.(Val705Ile)"	""
"0000687841"	"00012066"	"50"	"2146"	"0"	"2146"	"0"	"c.2146G>A"	"r.(?)"	"p.(Ala716Thr)"	""
"0000687842"	"00012066"	"90"	"2258"	"0"	"2258"	"0"	"c.2258dup"	"r.(?)"	"p.(Gln754AlafsTer9)"	""
"0000709001"	"00012066"	"90"	"475"	"-1"	"475"	"-1"	"c.475-1G>T"	"r.(475_486del)"	"p.(Thr159_Gln162del)"	""
"0000709002"	"00012066"	"90"	"697"	"0"	"697"	"0"	"c.697C>G"	"r.(?)"	"p.(Leu233Val)"	""
"0000709003"	"00012066"	"90"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364Trp)"	""
"0000709004"	"00012066"	"90"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364Trp)"	""
"0000709005"	"00012066"	"90"	"2230"	"0"	"2231"	"0"	"c.2230_2231delinsAT"	"r.(?)"	"p.(Glu744Met)"	""
"0000711421"	"00012066"	"90"	"1241"	"0"	"1241"	"0"	"c.1241A>T"	"r.(?)"	"p.(Asp414Val)"	""
"0000712075"	"00012066"	"77"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000712658"	"00012066"	"50"	"1988"	"0"	"1988"	"0"	"c.1988G>A"	"r.(?)"	"p.(Arg663His)"	""
"0000716745"	"00012066"	"50"	"526"	"0"	"526"	"0"	"c.526G>A"	"r.(?)"	"p.(Gly176Ser)"	""
"0000716746"	"00012066"	"70"	"746"	"0"	"746"	"0"	"c.746C>T"	"r.(?)"	"p.(Ser249Phe)"	""
"0000716747"	"00012066"	"30"	"756"	"0"	"756"	"0"	"c.756C>T"	"r.(?)"	"p.(Asn252=)"	""
"0000716748"	"00012066"	"50"	"764"	"0"	"764"	"0"	"c.764T>C"	"r.(?)"	"p.(Ile255Thr)"	""
"0000716749"	"00012066"	"30"	"842"	"0"	"842"	"0"	"c.842G>C"	"r.(?)"	"p.(Cys281Ser)"	""
"0000716750"	"00012066"	"30"	"852"	"0"	"852"	"0"	"c.852C>T"	"r.(?)"	"p.(Phe284=)"	""
"0000716751"	"00012066"	"30"	"1717"	"-9"	"1717"	"-6"	"c.1717-9_1717-6del"	"r.(=)"	"p.(=)"	""
"0000783990"	"00012066"	"30"	"709"	"-9"	"709"	"-9"	"c.709-9T>C"	"r.(=)"	"p.(=)"	""
"0000786939"	"00012066"	"90"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364Trp)"	"11"
"0000787472"	"00012066"	"50"	"262"	"0"	"262"	"0"	"c.262A>T"	"r.(?)"	"p.(Ile88Phe)"	"4"
"0000793779"	"00012066"	"70"	"20"	"0"	"20"	"0"	"c.20G>A"	"r.(?)"	"p.(Arg7Gln)"	"3"
"0000798727"	"00012066"	"50"	"175"	"2"	"175"	"2"	"c.175+2dup"	"r.spl?"	"p.?"	""
"0000798731"	"00012066"	"30"	"870"	"0"	"870"	"0"	"c.870C>T"	"r.(?)"	"p.(Gly290=)"	""
"0000798732"	"00012066"	"50"	"1397"	"0"	"1397"	"0"	"c.1397T>A"	"r.(?)"	"p.(Leu466Gln)"	""
"0000798733"	"00012066"	"30"	"1806"	"0"	"1806"	"0"	"c.1806C>T"	"r.(?)"	"p.(Ser602=)"	""
"0000821006"	"00012066"	"90"	"-2840690"	"0"	"630652"	"0"	"c.-2840690_*628378del"	"r.0?"	"p.0?"	""
"0000826999"	"00012066"	"90"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104Trp)"	""
"0000831398"	"00012066"	"90"	"334"	"0"	"334"	"0"	"c.334G>A"	"r.(?)"	"p.(Val112Met)"	""
"0000832359"	"00012066"	"90"	"2258"	"0"	"2258"	"0"	"c.2258dup"	"r.(?)"	"p.(Gln754Alafs*9)"	""
"0000834862"	"00012066"	"70"	"2221"	"0"	"2221"	"0"	"c.2221T>G"	"r.(?)"	"p.(Leu741Val)"	""
"0000848264"	"00012066"	"10"	"159"	"0"	"159"	"0"	"c.159C>T"	"r.(?)"	"p.(Ser53=)"	""
"0000848269"	"00012066"	"30"	"333"	"0"	"333"	"0"	"c.333C>T"	"r.(?)"	"p.(Thr111=)"	""
"0000848270"	"00012066"	"10"	"892"	"0"	"892"	"0"	"c.892G>A"	"r.(?)"	"p.(Gly298Arg)"	""
"0000848271"	"00012066"	"30"	"1495"	"9"	"1495"	"9"	"c.1495+9C>T"	"r.(=)"	"p.(=)"	""
"0000848272"	"00012066"	"50"	"1879"	"0"	"1879"	"0"	"c.1879A>G"	"r.(?)"	"p.(Lys627Glu)"	""
"0000856929"	"00012066"	"50"	"683"	"0"	"683"	"0"	"c.683A>G"	"r.(?)"	"p.(Asn228Ser)"	""
"0000856931"	"00012066"	"30"	"870"	"0"	"870"	"0"	"c.870C>T"	"r.(?)"	"p.(Gly290=)"	""
"0000856932"	"00012066"	"30"	"1179"	"0"	"1179"	"0"	"c.1179G>A"	"r.(?)"	"p.(Met393Ile)"	""
"0000856933"	"00012066"	"30"	"1779"	"0"	"1779"	"0"	"c.1779G>A"	"r.(?)"	"p.(Ser593=)"	""
"0000873506"	"00012066"	"70"	"385"	"0"	"385"	"0"	"c.385A>G"	"r.(?)"	"p.(Thr129Ala)"	""
"0000882735"	"00012066"	"30"	"744"	"0"	"744"	"0"	"c.744C>T"	"r.(?)"	"p.(Leu248=)"	""
"0000882736"	"00012066"	"30"	"1004"	"0"	"1004"	"0"	"c.1004T>C"	"r.(?)"	"p.(Met335Thr)"	""
"0000882737"	"00012066"	"30"	"1452"	"0"	"1452"	"0"	"c.1452G>A"	"r.(?)"	"p.(Thr484=)"	""
"0000882738"	"00012066"	"50"	"1930"	"0"	"1930"	"0"	"c.1930C>T"	"r.(?)"	"p.(Leu644Phe)"	""
"0000882739"	"00012066"	"50"	"2177"	"0"	"2177"	"0"	"c.2177C>T"	"r.(?)"	"p.(Ser726Leu)"	""
"0000882740"	"00012066"	"10"	"2205"	"-13"	"2205"	"-13"	"c.2205-13C>A"	"r.(=)"	"p.(=)"	""
"0000910759"	"00012066"	"30"	"933"	"0"	"933"	"0"	"c.933C>T"	"r.(?)"	"p.(Asn311=)"	""
"0000910760"	"00012066"	"30"	"1495"	"9"	"1495"	"9"	"c.1495+9C>T"	"r.(=)"	"p.(=)"	""
"0000910761"	"00012066"	"30"	"2205"	"-13"	"2205"	"-13"	"c.2205-13C>A"	"r.(=)"	"p.(=)"	""
"0000927997"	"00012066"	"70"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(Arg280Cys)"	""
"0000936295"	"00012066"	"50"	"598"	"0"	"598"	"0"	"c.598A>G"	"r.(?)"	"p.(Ser200Gly)"	""
"0000946950"	"00012066"	"90"	"1126"	"0"	"1126"	"0"	"c.1126A>G"	"r.(?)"	"p.(Met376Val)"	""
"0000960418"	"00012066"	"50"	"262"	"0"	"262"	"0"	"c.262A>T"	"r.(?)"	"p.(Ile88Phe)"	""
"0000960419"	"00012066"	"50"	"626"	"0"	"626"	"0"	"c.626T>A"	"r.(?)"	"p.(Leu209Gln)"	""
"0000971994"	"00012066"	"70"	"2171"	"0"	"2171"	"0"	"c.2171T>C"	"r.(?)"	"p.(Leu724Pro)"	""
"0000973242"	"00012066"	"10"	"176"	"-7"	"176"	"-7"	"c.176-7C>T"	"r.(=)"	"p.(=)"	""
"0000973246"	"00012066"	"10"	"474"	"65"	"474"	"65"	"c.474+65C>T"	"r.(=)"	"p.(=)"	""
"0000973249"	"00012066"	"10"	"600"	"-199"	"600"	"-195"	"c.600-199_600-195del"	"r.(=)"	"p.(=)"	""
"0000973254"	"00012066"	"10"	"1160"	"45"	"1160"	"45"	"c.1160+45A>G"	"r.(=)"	"p.(=)"	""
"0000973255"	"00012066"	"10"	"1873"	"-66"	"1873"	"-66"	"c.1873-66T>G"	"r.(=)"	"p.(=)"	""
"0000973256"	"00012066"	"90"	"2258"	"0"	"2258"	"0"	"c.2258dup"	"r.(?)"	"p.(Gln754AlafsTer9)"	""
"0000973257"	"00012066"	"10"	"2332"	"0"	"2332"	"0"	"c.*58A>G"	"r.(=)"	"p.(=)"	""
"0000985155"	"00012066"	"90"	"629"	"0"	"629"	"0"	"c.629A>G"	"r.(?)"	"p.(Asp210Gly)"	""
"0000990187"	"00012066"	"30"	"892"	"0"	"892"	"0"	"c.892G>A"	"r.(?)"	"p.(Gly298Arg)"	""
"0000990188"	"00012066"	"30"	"1574"	"0"	"1574"	"0"	"c.1574A>G"	"r.(?)"	"p.(Asn525Ser)"	""
"0000990189"	"00012066"	"30"	"1574"	"0"	"1574"	"0"	"c.1574A>G"	"r.(?)"	"p.(Asn525Ser)"	""
"0000990190"	"00012066"	"50"	"1574"	"0"	"1574"	"0"	"c.1574A>T"	"r.(?)"	"p.(Asn525Ile)"	""
"0001008576"	"00012066"	"30"	"749"	"0"	"749"	"0"	"c.749G>A"	"r.(?)"	"p.(Arg250Gln)"	""
"0001020277"	"00012066"	"30"	"1287"	"16"	"1287"	"16"	"c.1287+16G>A"	"r.(?)"	"p.(?)"	""
"0001023912"	"00012066"	"50"	"582"	"0"	"582"	"0"	"c.582C>A"	"r.(?)"	"p.(Asp194Glu)"	"6"
"0001031130"	"00012066"	"50"	"119"	"0"	"119"	"0"	"c.119A>G"	"r.(?)"	"p.(Asn40Ser)"	""
"0001031135"	"00012066"	"50"	"593"	"0"	"593"	"0"	"c.593T>G"	"r.(?)"	"p.(Met198Arg)"	""
"0001031139"	"00012066"	"50"	"1213"	"0"	"1213"	"0"	"c.1213G>A"	"r.(?)"	"p.(Asp405Asn)"	""
"0001044853"	"00012066"	"50"	"922"	"0"	"922"	"0"	"c.922G>A"	"r.(?)"	"p.(Glu308Lys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 230
"{{screeningid}}"	"{{variantid}}"
"0000000019"	"0000000172"
"0000002927"	"0000021303"
"0000036189"	"0000063314"
"0000036190"	"0000063315"
"0000036191"	"0000063316"
"0000036192"	"0000063317"
"0000036193"	"0000063318"
"0000036194"	"0000063319"
"0000036195"	"0000063320"
"0000036196"	"0000063321"
"0000036197"	"0000063322"
"0000036198"	"0000063323"
"0000036199"	"0000063324"
"0000036200"	"0000063325"
"0000036201"	"0000063326"
"0000036202"	"0000063327"
"0000079076"	"0000126806"
"0000079076"	"0000126809"
"0000079077"	"0000126807"
"0000079077"	"0000126808"
"0000079083"	"0000126815"
"0000079091"	"0000126823"
"0000079092"	"0000126824"
"0000079093"	"0000126825"
"0000079094"	"0000126826"
"0000079095"	"0000126827"
"0000079096"	"0000126828"
"0000079097"	"0000126829"
"0000079098"	"0000126830"
"0000079099"	"0000126831"
"0000079100"	"0000126832"
"0000079101"	"0000126833"
"0000079102"	"0000126834"
"0000079103"	"0000126835"
"0000079104"	"0000126836"
"0000079105"	"0000126837"
"0000079106"	"0000126838"
"0000079107"	"0000126839"
"0000079108"	"0000126840"
"0000079109"	"0000126841"
"0000079110"	"0000126842"
"0000079111"	"0000126843"
"0000079112"	"0000126844"
"0000079113"	"0000126845"
"0000079114"	"0000126846"
"0000079115"	"0000126847"
"0000079116"	"0000126848"
"0000079117"	"0000126849"
"0000079118"	"0000126850"
"0000079119"	"0000126851"
"0000079120"	"0000126852"
"0000079121"	"0000126853"
"0000079122"	"0000126854"
"0000079123"	"0000126855"
"0000079124"	"0000126856"
"0000079125"	"0000126857"
"0000079126"	"0000126858"
"0000079127"	"0000126859"
"0000079128"	"0000126860"
"0000079129"	"0000126861"
"0000079130"	"0000126862"
"0000079131"	"0000126863"
"0000079133"	"0000126865"
"0000079134"	"0000126866"
"0000079135"	"0000126867"
"0000079136"	"0000126868"
"0000079137"	"0000126869"
"0000079138"	"0000126870"
"0000079139"	"0000126871"
"0000079140"	"0000126872"
"0000079141"	"0000126873"
"0000079142"	"0000126874"
"0000079143"	"0000126875"
"0000079144"	"0000126876"
"0000079145"	"0000126877"
"0000079146"	"0000126878"
"0000079147"	"0000126879"
"0000079148"	"0000126880"
"0000079149"	"0000126881"
"0000079150"	"0000126882"
"0000079151"	"0000126883"
"0000079152"	"0000126884"
"0000079153"	"0000126885"
"0000079154"	"0000126886"
"0000079155"	"0000126887"
"0000079156"	"0000126888"
"0000079157"	"0000126889"
"0000079158"	"0000126890"
"0000079159"	"0000126891"
"0000079160"	"0000126892"
"0000079161"	"0000126893"
"0000079162"	"0000126894"
"0000079163"	"0000126895"
"0000079164"	"0000126896"
"0000079165"	"0000126897"
"0000079166"	"0000126898"
"0000079167"	"0000126899"
"0000079168"	"0000126900"
"0000079169"	"0000126901"
"0000079170"	"0000126902"
"0000079171"	"0000126903"
"0000079172"	"0000126904"
"0000079173"	"0000126905"
"0000079174"	"0000126906"
"0000079175"	"0000126907"
"0000079176"	"0000126908"
"0000079177"	"0000126909"
"0000079178"	"0000126910"
"0000079179"	"0000126911"
"0000079180"	"0000126912"
"0000079181"	"0000126913"
"0000079182"	"0000126914"
"0000079183"	"0000126915"
"0000079184"	"0000126916"
"0000079185"	"0000126917"
"0000079186"	"0000126918"
"0000079187"	"0000126919"
"0000079188"	"0000126920"
"0000080948"	"0000130034"
"0000104434"	"0000169168"
"0000152871"	"0000351710"
"0000209004"	"0000439077"
"0000209804"	"0000440019"
"0000220074"	"0000454967"
"0000220075"	"0000454968"
"0000220076"	"0000454969"
"0000220077"	"0000454970"
"0000220078"	"0000454971"
"0000220079"	"0000454972"
"0000220080"	"0000454973"
"0000220138"	"0000455041"
"0000220138"	"0000455042"
"0000265044"	"0000595627"
"0000265045"	"0000595628"
"0000265046"	"0000595629"
"0000265047"	"0000595630"
"0000265048"	"0000595631"
"0000265049"	"0000595632"
"0000265050"	"0000595633"
"0000265051"	"0000595634"
"0000265052"	"0000595635"
"0000267291"	"0000598344"
"0000290674"	"0000647363"
"0000290675"	"0000647364"
"0000290676"	"0000647365"
"0000290677"	"0000647366"
"0000290678"	"0000647367"
"0000290679"	"0000647368"
"0000290680"	"0000647369"
"0000290681"	"0000647370"
"0000290682"	"0000647371"
"0000297083"	"0000659693"
"0000301126"	"0000664021"
"0000301127"	"0000664022"
"0000301128"	"0000664023"
"0000301129"	"0000664024"
"0000301191"	"0000664086"
"0000301192"	"0000664087"
"0000301193"	"0000664088"
"0000301194"	"0000664089"
"0000301234"	"0000664129"
"0000301235"	"0000664130"
"0000301253"	"0000664148"
"0000301253"	"0000664185"
"0000301253"	"0000664186"
"0000301263"	"0000664158"
"0000301286"	"0000664192"
"0000301295"	"0000664207"
"0000301296"	"0000664208"
"0000301297"	"0000664209"
"0000301298"	"0000664210"
"0000301299"	"0000664211"
"0000301300"	"0000664212"
"0000301301"	"0000664213"
"0000301302"	"0000664214"
"0000301303"	"0000664215"
"0000301304"	"0000664216"
"0000301314"	"0000664233"
"0000301315"	"0000664234"
"0000301316"	"0000664235"
"0000301317"	"0000664236"
"0000301318"	"0000664237"
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