### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CHRNE)
# 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}}"
"CHRNE"	"cholinergic receptor, nicotinic, epsilon (muscle)"	"17"	"p13.2"	"unknown"	"NG_008029.2"	"UD_132084491647"	""	"https://www.LOVD.nl/CHRNE"	""	"1"	"1966"	"1145"	"100725"	"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>"	""	"g"	"https://databases.lovd.nl/shared/refseq/CHRNE_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the gene variant databases from the <a href=\"http://www.DMD.nl\" target=\"_blank\">Leiden Muscular Dystrophy pages</a></font>"	"-1"	""	"-1"	"00001"	"2011-02-01 00:00:00"	"00006"	"2019-01-20 14:39:52"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00005154"	"CHRNE"	"cholinergic receptor, nicotinic, epsilon"	"001"	"NM_000080.3"	""	"NP_000071.1"	""	""	""	"-11"	"2449"	"1482"	"4806369"	"4801064"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00026"	"arthrogryposis"	"arthrogryposis"	""	""	""	""	""	"00001"	"2012-08-03 16:49:36"	"00006"	"2019-01-04 15:23:51"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01002"	"CMS4C"	"myasthenic syndrome, congenital, type 4C, associated with acetylcholine receptor deficiency (CMS-4C)"	"AR"	"608931"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01926"	"MEOAL;MMDS8"	"mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy"	"AR"	"251900"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-11-25 10:11:25"
"04312"	"CMS"	"myasthenic syndrome, congenital (CMS)"	""	""	""	""	""	"00006"	"2015-08-28 20:21:50"	"00006"	"2021-12-10 21:51:32"
"04318"	"CMS4A"	"myasthenic syndrome, congenital, type 4A, slow-channel (CMS-4A)"	"AD;AR"	"605809"	""	""	""	"00006"	"2015-08-28 21:27:12"	"00006"	"2021-12-10 21:51:32"
"04319"	"CMS4B"	"myasthenic syndrome, congenital, type 4B, fast-channel (CMS-4B)"	"AR"	"616324"	""	""	""	"00006"	"2015-08-28 21:28:11"	"00006"	"2021-12-10 21:51:32"
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"CHRNE"	"01002"
"CHRNE"	"04318"
"CHRNE"	"04319"


## Individuals ## Do not remove or alter this header ##
## Count = 259
"{{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}}"
"00035228"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035229"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035230"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035231"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035232"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035233"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035234"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035235"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035236"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035237"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035238"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035239"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035240"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035241"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035242"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00035243"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00117924"	""	""	""	"1"	""	"01802"	"de Natera, 2017"	""	"M"	"no"	"Spain"	""	"0"	""	""	""	"patient 26"
"00152961"	""	""	""	"5"	""	"00006"	"{PMID:Sine 1995:7619526}"	"3-generation family, 5 affected (2F, 3M)"	"F;M"	""	"Germany"	""	"0"	""	""	""	"FamPat1"
"00152962"	""	""	""	"3"	""	"00006"	"{PMID:Engel 1996:8872460}"	"3-generation family, affected girl/mother/grandmother"	"F"	""	"United States"	">30y"	"0"	""	""	""	""
"00152984"	""	""	""	"1"	""	"00006"	"{PMID:Engel 1996:8872460}"	"2-generation family, affected boy"	"M"	""	"United States"	">16y"	"0"	""	""	""	""
"00152985"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1996:8755487}"	"3-generation family, unaffected carrier parents/son"	"F"	""	"Germany"	""	"0"	""	""	""	""
"00152986"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1997:9158150}"	"3-generation family, affected brother/sister"	""	""	""	""	"0"	""	""	""	""
"00152987"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1997:9158150}"	"2-generation family, 2 affected brothers"	"M"	""	""	""	"0"	""	""	""	""
"00152988"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1999:10382905}"	"2-generation family, affected brother/sister, unaffected carrier parents"	"M"	""	"Turkey"	">12y"	"0"	""	""	""	""
"00152989"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1999:10382905}"	"2-generation family, affected brother/sister, unaffected carrier parents"	"F"	""	"Turkey"	">14y"	"0"	""	""	""	""
"00152990"	""	""	""	"3"	""	"00006"	"{PMID:Ohno 1999:10382905}"	"unaffected carrier parents and brother"	""	""	"Turkey"	""	"0"	""	""	""	""
"00152994"	""	""	""	"1"	""	"00006"	"{PMID:Sine 1995:7619526}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153037"	""	""	""	"3"	""	"00006"	"{PMID:Quiram 1999:10562302}"	"2-generation family, affected girl and younger sister and brother"	"F"	""	""	">8y"	"0"	""	""	""	""
"00153041"	""	""	""	"1"	""	"00006"	"{PMID:Quiram 1999:10562302}"	"unaffected carrier mother 10562302-Pat1"	"F"	""	""	""	"0"	""	""	""	""
"00153063"	""	""	""	"1"	""	"00006"	"{PMID:Engel 1996:8872460}"	"3-generation family, affected girl"	"F"	""	"United States"	">19y"	"0"	""	""	""	""
"00153087"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1995:7531341}, {OMIM100725:0001}"	""	"F"	""	""	""	"0"	""	""	""	""
"00153088"	""	""	""	"1"	""	"00006"	"{PMID:Gomez 1995:7538206}, {OMIM100725:0002}"	""	"M"	""	""	""	"0"	""	""	""	""
"00153089"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1996:8755487}"	""	"F"	""	""	""	"0"	""	""	""	""
"00153090"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1996:8755487}"	"2-generation family, affected brother/sister, unaffected carrier parents"	"M"	""	""	""	"0"	""	""	""	""
"00153091"	""	""	""	"1"	""	"00006"	"{PMID:Engel 1996:8957026}"	""	""	""	""	""	"0"	""	""	""	""
"00153092"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1997:9158150}"	"3-generation family, 1 affected"	"F"	""	""	""	"0"	""	""	""	""
"00153093"	""	""	""	"1"	""	"00006"	"{PMID:Milone 1998:9539130}"	""	"F"	""	""	""	"0"	""	""	""	""
"00153094"	""	""	""	"1"	""	"00006"	"{PMID:Croxen 1998:9668239}"	"adopted"	""	""	""	""	"0"	""	""	""	""
"00153095"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1998:9708546}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153096"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1998:9708546}"	""	"F"	"no"	"Turkey"	""	"0"	""	""	""	""
"00153097"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1998:9708546}"	""	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153098"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1998:9708546}"	""	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153099"	""	""	""	"1"	""	"00006"	"{PMID:Nichols 1999:10211467}"	""	""	""	""	""	"0"	""	""	""	""
"00153100"	""	""	""	"1"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, 1 affected"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153101"	""	""	""	"1"	""	"00006"	"{PMID:Middleton 1999:10496269}"	""	""	"yes"	"Jordan"	""	"0"	""	""	""	""
"00153102"	""	""	""	"4"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, 4 affecteds"	""	"yes"	"Jordan"	""	"0"	""	""	""	""
"00153103"	""	""	""	"1"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, 1 affected"	"M"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153104"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2000:10962020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00153105"	""	""	""	"1"	""	"00006"	"{PMID:Wang 2000:10962020}"	""	"M"	""	""	""	"0"	""	""	""	""
"00153106"	""	""	""	"1"	""	"00006"	"{PMID:Sieb 2000:11030414}"	""	"F"	""	""	""	"0"	""	""	"white"	""
"00153107"	""	""	""	"2"	""	"00006"	"{PMID:Sieb 1997:9443457}"	"Brother and sister affected"	""	""	"Italy"	""	"0"	""	""	""	""
"00153108"	""	""	""	"1"	""	"00006"	"{PMID:Slater 1997:9313636}"	""	"M"	"yes"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00153109"	""	""	""	"1"	""	"00006"	"{PMID:Slater 1997:9313636}"	""	"M"	"yes"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00153110"	""	""	""	"1"	""	"00006"	"{PMID:Croxen 2002:12034803}"	""	"F"	"no"	""	""	"0"	""	""	""	""
"00153111"	""	""	""	"1"	""	"00006"	"{PMID:Croxen 2002 a:12141316}"	""	"F"	"yes"	"Bangladesh"	""	"0"	""	""	""	""
"00153112"	""	""	""	"1"	""	"00006"	"{PMID:Croxen 2002 a:12141316}"	"family with variable penetrance"	"F"	""	""	""	"0"	""	""	""	""
"00153113"	""	""	""	"1"	""	"00006"	"{PMID:Sine 2002:12356851}"	""	""	""	""	""	"0"	""	""	""	""
"00153114"	""	""	""	"1"	""	"00006"	"{PMID:Sine 2002:12356851}"	""	""	""	""	""	"0"	""	""	""	""
"00153115"	""	""	""	"1"	""	"00006"	"{PMID:Ealing 2002:12417530}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00153116"	""	""	""	"1"	""	"00006"	"{PMID:Ealing 2002:12417530}"	""	""	""	""	""	"0"	""	""	""	""
"00153117"	""	""	""	"1"	""	"00006"	"{PMID:Ealing 2002:12417530}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00153118"	""	""	""	"1"	""	"00006"	"{PMID:Ealing 2002:12417530}"	""	""	"no"	"Netherlands"	""	"0"	""	""	""	""
"00153119"	""	""	""	"1"	""	"00006"	"{PMID:Kraner 2002:12453093}"	""	""	"no"	"Switzerland"	""	"0"	""	""	""	""
"00153120"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2003:14532324}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"United States"	""	"0"	""	""	""	"FamPat6"
"00153121"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2003:14532324}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	""	"United States"	""	"0"	""	""	""	"FamPat7"
"00153122"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2003:14532324}"	""	""	""	"United States"	""	"0"	""	""	""	"FamPat9"
"00153123"	""	""	""	"1"	""	"00006"	"{PMID:Beeson 2003:14592868}"	""	""	""	""	""	"0"	""	""	""	""
"00153124"	""	""	""	"1"	""	"00006"	"{PMID:Beeson 2003:14592868}"	""	""	""	""	""	"0"	""	""	""	""
"00153125"	""	""	""	"1"	""	"00006"	"{PMID:Beeson 2003:14592868}"	""	""	""	""	""	"0"	""	""	""	""
"00153126"	""	""	""	"1"	""	"00006"	"{PMID:Beeson 2003:14592868}"	""	""	""	""	""	"0"	""	""	""	""
"00153127"	""	""	""	"1"	""	"00006"	"{PMID:Beeson 2003:14592868}"	""	""	""	""	""	"0"	""	""	""	""
"00153128"	""	""	""	"3"	""	"00006"	"{PMID:Soltanzadeh 2005:15965226}"	""	""	"yes"	"Iran"	""	"0"	""	""	"Muslim"	""
"00153129"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2005:16156036}"	""	""	""	""	""	"0"	""	""	""	""
"00153130"	""	""	""	"1"	""	"00006"	"{PMID:Fidzianska 2005:16198106}"	""	""	""	""	""	"0"	""	""	""	""
"00153131"	""	""	""	"1"	""	"00006"	"{PMID:Outteryck 2009:19289485}"	""	"F"	"yes"	""	""	"0"	""	""	""	""
"00153132"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153133"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153134"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153135"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153136"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153137"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153138"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153139"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153140"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153141"	""	""	""	"1"	""	"00006"	"{PMID:Ealing 2002:12417530}"	""	"F"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00153142"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153143"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153144"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2003:14532324}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	"yes"	"United States"	""	"0"	""	""	""	"FamPat8"
"00153145"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153146"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153147"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153148"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153149"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1998:9708546}"	""	"F"	"no"	"Turkey"	""	"0"	""	""	""	""
"00153150"	""	""	""	"1"	""	"00006"	"{PMID:Nichols 1999:10211467}"	"2-generation family, affected brother/sister"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00153151"	""	""	""	"2"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, 2 affected sisters"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153152"	""	""	""	"1"	""	"00006"	"{PMID:Croxen 2001:11408331}"	""	"M"	"yes"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00153153"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2003:14532324}"	"2-generation family, 1 affected, unaffected heterozygous carrier mother"	"F"	""	"United States"	""	"0"	""	""	""	"FamPat1"
"00153155"	""	""	""	"1"	""	"00006"	"{PMID:Muller 2005:16087917}"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153158"	""	""	""	"1"	""	"00006"	"{PMID:Richard 2007:17363247}"	""	"F"	"yes"	"Portugal"	""	"0"	""	""	""	""
"00153159"	""	""	""	"1"	""	"00006"	"{PMID:Nichols 1999:10211467}"	"2-generation family, affected brother/sister"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00153160"	""	""	""	"4"	""	"00006"	"{PMID:Nichols 1999:10211467}"	"unaffected carrier parents and 2 sisters"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00153161"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1996:8755487}, {OMIM100725:0003}"	"unaffected carrier mother and son"	""	""	"Germany"	""	"0"	""	""	""	""
"00153162"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00153163"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00153164"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"Ukraine"	""	"0"	""	""	""	""
"00153165"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	"white"	""
"00153166"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1996:8755487}"	"unaffected carrier father and daugther"	""	""	"Germany"	""	"0"	""	""	""	""
"00153167"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1996:8755487}"	"2-generation family, affected brother/sister, unaffected carrier parents"	"F"	""	""	""	"0"	""	""	""	""
"00153168"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1996:8755487}, {OMIM100725:0003}"	"unaffected carrier mother"	"F"	""	"Germany"	""	"0"	""	""	""	""
"00153169"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1996:8755487}"	"unaffected carrier father"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00153170"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00153171"	""	""	""	"1"	""	"00513"	"{PMID:Abicht 2002:11960891}"	"2-generation family, unaffected parents/6 siblings"	"M"	""	"Germany"	">36y"	"0"	""	""	""	""
"00153172"	""	""	""	"2"	""	"00513"	"{PMID:Abicht 2002:11960891}"	"unaffected carrier mother, sister"	"F"	""	"Germany"	""	"0"	""	""	""	""
"00153173"	""	""	""	"2"	""	"00513"	"{PMID:Abicht 2002:11960891}"	"unaffected carrier father, brother"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00153174"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153175"	""	""	""	"1"	""	"00513"	""	""	""	""	"Czech Republic"	""	"0"	""	""	""	""
"00153176"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153177"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153178"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153179"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153180"	""	""	""	"1"	""	"00513"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00153181"	""	""	""	"1"	""	"00513"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00153182"	""	""	""	"1"	""	"00513"	"Abicht Acta Myologica 2000, Ohno Neuromuscul.Disord. 2004"	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153183"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153184"	""	""	""	"1"	""	"00513"	"{PMID:Abicht 1999:10534268}"	"ptosis, weakness bulbar muscles, no worsening with age"	"F"	""	"(Germany)"	""	"0"	""	""	""	""
"00153185"	""	""	""	"1"	""	"00513"	"{PMID:Abicht 1999:10534268}"	"ptosis, weakness bulbar muscles, no worsening with age"	"M"	""	"(Germany)"	""	"0"	""	""	""	""
"00153186"	""	""	""	"4"	""	"00513"	"{PMID:Abicht 1999:10534268}"	""	""	""	"(Germany)"	""	"0"	""	""	""	""
"00153187"	""	""	""	"4"	""	"00513"	"{PMID:Abicht 1999:10534268}"	"ptosis, weakness bulbar muscles, no worsening with age"	""	""	"Hungary"	""	"0"	""	""	"gypsy"	""
"00153188"	""	""	""	"1"	""	"00513"	"{PMID:Abicht 1999:10534268}"	"ptosis, weakness bulbar muscles, no worsening with age"	""	""	"Macedonia"	""	"0"	""	""	"gypsy"	""
"00153189"	""	""	""	"1"	""	"00513"	"{PMID:Abicht 1999:10534268}"	"ptosis, weakness bulbar muscles, no worsening with age"	""	""	"Serbia"	""	"0"	""	""	"gypsy"	""
"00153190"	""	""	""	"1"	""	"00513"	"{PMID:Abicht 1999:10534268}"	"ptosis, weakness bulbar muscles, no worsening with age"	""	""	""	""	"0"	""	""	"Bohemia, gypsy"	""
"00153191"	""	""	""	"2"	""	"00513"	"{PMID:Abicht 1999:10534268}"	"ptosis, weakness bulbar muscles, no worsening with age"	""	""	"Macedonia"	""	"0"	""	""	""	""
"00153192"	""	""	""	"1"	""	"00513"	"{PMID:Abicht 1999:10534268}"	"ptosis, weakness bulbar muscles, no worsening with age"	""	""	"Turkey"	""	"0"	""	""	""	""
"00153193"	""	""	""	"1"	""	"00513"	"{PMID:Abicht 1999:10534268}"	"ptosis, weakness bulbar muscles, no worsening with age"	""	""	""	""	"0"	""	""	"Kosovo"	""
"00153194"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153195"	""	""	""	"1"	""	"00513"	""	""	""	""	"Iran"	""	"0"	""	""	""	""
"00153196"	""	""	""	"1"	""	"00513"	""	""	""	""	"Iran"	""	"0"	""	""	""	""
"00153197"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153198"	""	""	""	"1"	""	"00513"	""	""	""	""	"Portugal"	""	"0"	""	""	""	""
"00153199"	""	""	""	"1"	""	"00513"	""	""	""	""	"Algeria"	""	"0"	""	""	""	""
"00153200"	""	""	""	"1"	""	"00513"	""	""	""	""	"Algeria"	""	"0"	""	""	""	""
"00153201"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153202"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153203"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153204"	""	""	""	"1"	""	"00513"	""	""	""	""	"Italy"	""	"0"	""	""	""	""
"00153205"	""	""	""	"1"	""	"00513"	""	""	""	""	"Jordan"	""	"0"	""	""	""	""
"00153207"	""	""	""	"1"	""	"00513"	""	""	""	""	"Iran"	""	"0"	""	""	""	""
"00153208"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153209"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153210"	""	""	""	"1"	""	"00513"	""	""	""	""	"Brazil"	""	"0"	""	""	""	""
"00153211"	""	""	""	"1"	""	"00513"	""	""	""	""	"Austria"	""	"0"	""	""	""	""
"00153212"	""	""	""	"1"	""	"00513"	""	""	""	""	"Jordan"	""	"0"	""	""	""	""
"00153213"	""	""	""	"1"	""	"00513"	""	""	""	""	"Portugal"	""	"0"	""	""	""	""
"00153214"	""	""	""	"1"	""	"00513"	""	""	""	""	"Chile"	""	"0"	""	""	""	""
"00153215"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153216"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153217"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153218"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153219"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153221"	""	""	""	"1"	""	"00513"	""	""	""	""	"Brazil"	""	"0"	""	""	""	""
"00153222"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153223"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153224"	""	""	""	"1"	""	"00513"	""	""	""	""	"Brazil"	""	"0"	""	""	""	""
"00153225"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153226"	""	""	""	"1"	""	"00513"	"{PMID:M¸ller 2006:16087917}"	"2-generation family, affected boy, unaffected carrier parents/sister"	"M"	""	"Germany"	">18y"	"0"	""	""	""	""
"00153227"	""	""	""	"2"	""	"00513"	"{PMID:M¸ller 2006:16087917}"	"unaffected carrier mother/sister"	""	""	"Germany"	""	"0"	""	""	""	""
"00153228"	""	""	""	"1"	""	"00513"	"{PMID:M¸ller 2006:16087917}"	"unaffected carrier father"	"M"	""	"Germany"	""	"0"	""	""	""	""
"00153229"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153230"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153231"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153232"	""	""	""	"1"	""	"00513"	""	"father no clinical or electrophysiological signs of CMS"	""	""	"Germany"	""	"0"	""	""	""	""
"00153233"	""	""	""	"1"	""	"00513"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00153234"	""	""	""	"1"	""	"00513"	"{PMID:Colomer 2006:16621558}, {PMID:Chaouch 2011:21822932}"	""	"M"	"no"	"Spain"	">15y"	"0"	""	""	""	""
"00153235"	""	""	""	"6"	""	"00006"	"{PMID:Engel 1996:8872460}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00153236"	""	""	""	"9"	""	"00006"	"{PMID:Engel 1996:8872460}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00153237"	""	""	""	"3"	""	"00006"	"{PMID:Engel 1996:8872460}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00153238"	""	""	""	"9"	""	"00006"	"{PMID:Engel 1996:8872460}"	""	""	""	"United States"	""	"0"	""	""	""	""
"00153239"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	"Hispanic"	""
"00153240"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	"white"	""
"00153241"	""	""	""	"1"	""	"00464"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00153242"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"Qatar"	""	"0"	""	""	"Arab"	""
"00153243"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	"Hispanic"	""
"00153244"	""	""	""	"1"	""	"00006"	"{PMID:Ealing 2002:12417530}"	""	""	"no"	"Netherlands"	""	"0"	""	""	""	""
"00153245"	""	""	""	"1"	""	"00006"	"{PMID:Croxen 2002 a:12141316}"	""	"F"	""	""	""	"0"	""	""	""	""
"00153246"	""	""	""	"1"	""	"00006"	"{PMID:Croxen 2002:12034803}"	"Sister of patient I (#20707) Despite both sisters carry the same ε-subunit alleles, only patient II developed detectable AChR antibodies."	"F"	"yes"	""	""	"0"	""	""	""	""
"00153247"	""	""	""	"1"	""	"00006"	"{PMID:Slater 1997:9313636}"	""	"F"	"yes"	"(United Kingdom (Great Britain))"	""	"0"	""	""	""	""
"00153248"	""	""	""	"2"	""	"00006"	"{PMID:Wang 2000:10962020}"	"Brother and sister affected"	""	""	""	""	"0"	""	""	""	""
"00153249"	""	""	""	"2"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, affected brother/sister"	""	"yes"	"Jordan"	""	"0"	""	""	""	""
"00153250"	""	""	""	"1"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, 1 affected"	"F"	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153251"	""	""	""	"3"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"3-generation family, 3 affecteds (1F, 2M)"	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153252"	""	""	""	"4"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"3-generation family, 4 affecteds"	""	"yes"	"Greece"	""	"0"	""	""	"gypsy"	""
"00153253"	""	""	""	"3"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"2-generation family, 3 affecteds"	""	""	"Turkey"	""	"0"	""	""	""	""
"00153254"	""	""	""	"2"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"2-generation family, 2 affected brothers"	"M"	""	"Greece"	""	"0"	""	""	"gypsy"	""
"00153255"	""	""	""	"4"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"3-generation family, 4 affecteds"	""	"yes"	"Greece"	""	"0"	""	""	"gypsy"	""
"00153256"	""	""	""	"4"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"4-generation family, 4 affecteds"	""	"yes"	""	""	"0"	""	""	""	""
"00153257"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1997:9158150}"	"3-generation family, unaffected carrier mother/sister"	"F"	"no"	""	""	"0"	""	""	""	""
"00153258"	""	""	""	"3"	""	"00006"	"{PMID:Ohno 1997:9158150}"	"3-generation family, unaffected father/2 children"	""	"no"	""	""	"0"	""	""	""	""
"00153259"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1997:9158150}"	"3-generation family, unaffected carrier mother"	"F"	"no"	""	""	"0"	""	""	""	""
"00153260"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1997:9158150}"	"3-generation family, unaffected carrier father"	"M"	"no"	""	""	"0"	""	""	""	""
"00153261"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 1997:9158150}, {OMIM100725:0004}"	"2-generation family, unaffected carrier mother"	"M"	"no"	""	""	"0"	""	""	""	""
"00153262"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 1997:9158150}, {OMIM100725:0005}"	"2-generation family, unaffected carrier father/brother"	"M"	"no"	""	""	"0"	""	""	""	""
"00153263"	""	""	""	"1"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Ohno 1997:9158150}"	"2-generation family, unaffected carrier mother"	"F"	"yes"	"Jordan"	""	"0"	""	""	""	""
"00153264"	""	""	""	"1"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Ohno 1997:9158150}"	"2-generation family, unaffected carrier father"	"M"	"yes"	"Jordan"	""	"0"	""	""	""	""
"00153265"	""	""	""	"1"	""	"00006"	"{PMID:Croxen 1998:9668239}"	"adopted"	""	""	""	""	"0"	""	""	""	""
"00153266"	""	""	""	"7"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"3-generation family, 7 unaffected carriers"	""	"yes"	"Greece"	""	"0"	""	""	"gypsy"	""
"00153267"	""	""	""	"3"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"2-generation family, unaffected carrier parents/brother"	""	""	"Turkey"	""	"0"	""	""	""	""
"00153268"	""	""	""	"2"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"2-generation family, unaffected carrier parents"	""	""	"Greece"	""	"0"	""	""	"gypsy"	""
"00153269"	""	""	""	"8"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"3-generation family, unaffected carrier parents/relatives"	""	"yes"	"Greece"	""	"0"	""	""	"gypsy"	""
"00153270"	""	""	""	"7"	""	"00006"	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:9668239}"	"4-generation family, unaffected carrier parents/relatives"	""	"yes"	""	""	"0"	""	""	""	""
"00153271"	""	""	""	"3"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, unaffected carrier parents/sister"	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153272"	""	""	""	"2"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, unaffected carrier parents"	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153273"	""	""	""	"5"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"3-generation family, unaffected carrier parents/relatives"	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153274"	""	""	""	"3"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, unaffected carrier parents/sister"	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153275"	""	""	""	"2"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, unaffected carrier parents"	""	"yes"	"Jordan"	""	"0"	""	""	""	""
"00153276"	""	""	""	"3"	""	"00006"	"{PMID:Middleton 1999:10496269}"	"2-generation family, unaffected carrier parents/brother"	""	"yes"	"Turkey"	""	"0"	""	""	""	""
"00153277"	""	""	""	"1"	""	"00464"	""	""	"F"	""	"United States"	""	"0"	""	""	""	""
"00153278"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00153279"	""	""	""	"1"	""	"00464"	""	""	"M"	""	"United States"	""	"0"	""	""	""	""
"00163650"	""	""	""	"1"	""	"02440"	""	"Fetus, TOP 24th GW"	"F"	"no"	"Germany"	""	"0"	"yes"	"none"	""	""
"00210000"	""	""	""	"1"	""	"01164"	""	""	"M"	""	"Germany"	""	"0"	""	""	""	""
"00210185"	""	""	""	"1"	""	"01164"	""	""	"F"	""	"Germany"	""	"0"	""	""	""	""
"00269607"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00269911"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00289298"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00291774"	""	""	""	"47"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00291775"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295941"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00300311"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00300613"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 2003:14532324}"	"2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives"	"F;M"	""	"United States"	""	"0"	""	""	""	"FamPat4"
"00300614"	""	""	""	"1"	""	"00006"	"{PMID:Ohno 2003:14532324}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relative"	"M"	""	"United States"	""	"0"	""	""	""	"FamPat3"
"00300615"	""	""	""	"2"	""	"00006"	"{PMID:Ohno 2003:14532324}"	"2-generation family, 2 affected (F, M), unaffected heterozygous carrier parents"	"F;M"	""	"United States"	""	"0"	""	""	""	"Fa,Pat2"
"00309728"	""	""	""	"1"	""	"03219"	""	""	"M"	""	"India"	""	""	""	""	""	""
"00374248"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3056"
"00374249"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-5167"
"00374250"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2875"
"00374251"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-3586"
"00374252"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-876"
"00374253"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1157"
"00374254"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1632"
"00374255"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-705"
"00374256"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-168"
"00374257"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-1860"
"00374691"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-4247"
"00399020"	""	""	""	"1"	""	"00006"	"{PMID:Gonzalez-Quereda 2020:32403337}"	"patient"	"M"	""	"Spain"	""	"0"	""	""	""	"P50"
"00399060"	""	""	""	"1"	""	"00006"	"{PMID:Gonzalez-Quereda 2020:32403337}"	"patient"	"F"	""	"Spain"	""	"0"	""	""	""	"P126"
"00399110"	""	""	""	"1"	""	"00006"	"{PMID:Gonzalez-Quereda 2020:32403337}"	"patient"	"F"	""	"Spain"	""	"0"	""	""	""	"P198"
"00406621"	""	""	""	"1"	""	"04292"	""	""	"M"	""	""	""	""	""	""	""	"2"
"00406624"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"5"
"00406625"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"6"
"00406628"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"9"
"00406629"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"10"
"00406643"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"13"
"00406644"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"14"
"00406646"	""	""	""	"1"	""	"04292"	""	""	"M"	""	""	""	""	""	""	""	"16"
"00406649"	""	""	""	"1"	""	"04292"	""	""	"M"	""	""	""	""	""	""	""	"19"
"00406651"	""	""	""	"1"	""	"04292"	""	""	"F"	""	""	""	""	""	""	""	"21"
"00406652"	""	""	""	"1"	""	"04292"	""	""	"M"	""	""	""	""	""	""	""	"22"
"00413030"	""	""	""	"1"	""	"00006"	"{PMID:Oosterhuis 1987:3651795}, {PMID:Boon 2022:35466948}"	""	"F"	""	"Netherlands"	""	"0"	""	""	""	"Pat2"
"00442641"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"M"	""	""	""	"0"	""	""	""	"Pat13"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 214
"{{individualid}}"	"{{diseaseid}}"
"00035229"	"01926"
"00035231"	"00198"
"00035232"	"00198"
"00035234"	"00198"
"00035235"	"00198"
"00035236"	"00198"
"00035237"	"00198"
"00035238"	"00198"
"00035239"	"00198"
"00035241"	"00198"
"00035243"	"00198"
"00117924"	"04318"
"00152961"	"04312"
"00152962"	"04312"
"00152984"	"04312"
"00152985"	"04312"
"00152986"	"04312"
"00152987"	"04312"
"00152988"	"04312"
"00152989"	"04312"
"00152994"	"04312"
"00153037"	"04312"
"00153063"	"04312"
"00153087"	"04312"
"00153088"	"04312"
"00153089"	"04312"
"00153090"	"04312"
"00153091"	"04312"
"00153092"	"04312"
"00153093"	"04312"
"00153094"	"04312"
"00153095"	"04312"
"00153096"	"04312"
"00153097"	"04312"
"00153098"	"04312"
"00153099"	"04312"
"00153100"	"04312"
"00153101"	"04312"
"00153102"	"04312"
"00153103"	"04312"
"00153104"	"04312"
"00153105"	"04312"
"00153106"	"04312"
"00153107"	"04312"
"00153108"	"04312"
"00153109"	"04312"
"00153110"	"04312"
"00153111"	"04312"
"00153112"	"04312"
"00153113"	"04312"
"00153114"	"04312"
"00153115"	"04312"
"00153116"	"04312"
"00153117"	"04312"
"00153118"	"04312"
"00153119"	"04312"
"00153120"	"04312"
"00153121"	"04312"
"00153122"	"04312"
"00153123"	"04312"
"00153124"	"04312"
"00153125"	"04312"
"00153126"	"04312"
"00153127"	"04312"
"00153128"	"04312"
"00153129"	"04312"
"00153130"	"04312"
"00153131"	"04312"
"00153132"	"04312"
"00153133"	"04312"
"00153134"	"04312"
"00153135"	"04312"
"00153136"	"04312"
"00153137"	"04312"
"00153138"	"04312"
"00153139"	"04312"
"00153140"	"04312"
"00153141"	"04312"
"00153142"	"04312"
"00153143"	"04312"
"00153144"	"04312"
"00153145"	"04312"
"00153146"	"04312"
"00153147"	"04312"
"00153148"	"04312"
"00153149"	"04312"
"00153150"	"04312"
"00153151"	"04312"
"00153152"	"04312"
"00153153"	"04312"
"00153155"	"04312"
"00153158"	"04312"
"00153159"	"04312"
"00153162"	"04312"
"00153163"	"04312"
"00153164"	"04312"
"00153165"	"04312"
"00153167"	"04312"
"00153171"	"04312"
"00153174"	"04312"
"00153175"	"04312"
"00153176"	"04312"
"00153177"	"04312"
"00153178"	"04312"
"00153179"	"04312"
"00153180"	"04312"
"00153181"	"04312"
"00153182"	"04312"
"00153183"	"04312"
"00153184"	"04312"
"00153185"	"04312"
"00153187"	"04312"
"00153188"	"04312"
"00153189"	"04312"
"00153190"	"04312"
"00153191"	"04312"
"00153192"	"04312"
"00153193"	"04312"
"00153194"	"04312"
"00153195"	"04312"
"00153196"	"04312"
"00153197"	"04312"
"00153198"	"04312"
"00153199"	"04312"
"00153200"	"04312"
"00153201"	"04312"
"00153202"	"04312"
"00153203"	"04312"
"00153204"	"04312"
"00153205"	"04312"
"00153207"	"04312"
"00153208"	"04312"
"00153209"	"04312"
"00153210"	"04312"
"00153211"	"04312"
"00153212"	"04312"
"00153213"	"04312"
"00153214"	"04312"
"00153215"	"04312"
"00153216"	"04312"
"00153217"	"04312"
"00153218"	"04312"
"00153219"	"04312"
"00153221"	"04312"
"00153222"	"04312"
"00153223"	"04312"
"00153224"	"04312"
"00153225"	"04312"
"00153226"	"04312"
"00153229"	"04312"
"00153230"	"04312"
"00153231"	"04312"
"00153232"	"04312"
"00153233"	"04312"
"00153234"	"04312"
"00153239"	"04312"
"00153240"	"04312"
"00153241"	"04312"
"00153242"	"04312"
"00153243"	"04312"
"00153244"	"04312"
"00153245"	"04312"
"00153246"	"04312"
"00153247"	"04312"
"00153248"	"04312"
"00153249"	"04312"
"00153250"	"04312"
"00153251"	"04312"
"00153252"	"04312"
"00153253"	"04312"
"00153254"	"04312"
"00153255"	"04312"
"00153256"	"04312"
"00153277"	"04312"
"00153278"	"04312"
"00153279"	"04312"
"00163650"	"00026"
"00269911"	"00198"
"00289298"	"00198"
"00291774"	"00198"
"00291775"	"00198"
"00295941"	"00198"
"00300311"	"00198"
"00300613"	"04312"
"00300614"	"04312"
"00300615"	"04312"
"00309728"	"04318"
"00374248"	"00198"
"00374249"	"00198"
"00374250"	"00198"
"00374251"	"00198"
"00374252"	"00198"
"00374253"	"00198"
"00374254"	"00198"
"00374255"	"00198"
"00374256"	"00198"
"00374257"	"00198"
"00374691"	"00198"
"00399020"	"05618"
"00399060"	"05618"
"00399110"	"05618"
"00406621"	"01002"
"00406624"	"01002"
"00406625"	"01002"
"00406628"	"01002"
"00406629"	"01002"
"00406643"	"01002"
"00406644"	"01002"
"00406646"	"01002"
"00406649"	"01002"
"00406651"	"01002"
"00406652"	"01002"
"00413030"	"04312"
"00442641"	"05618"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00026, 00198, 01002, 01926, 04312, 04318, 04319, 05618
## Count = 144
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000093305"	"04318"	"00117924"	"01802"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000125696"	"04312"	"00152961"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital, slow channel (SCCMS)"	""
"0000125697"	"04312"	"00152962"	"00006"	"Unknown"	"30y"	"8y-limb muscle weakness; 10y-scoliosis, able to walk 100 yards, cannot climb stairs unassisted; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early childhood"	""	""	"ocular muscle weakness"	"no AChR antibodies"	""	""	""	""	""	"syndrome, myasthenic, congenital, slow channel (SCCMS)"	""
"0000125719"	"04312"	"00152984"	"00006"	"Unknown"	"16y"	"7y-intermittent episodes respiratory insufficiency requiring ventilatory support; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli; age onset early infancy"	""	""	"myasthenic symptoms"	"no AChR antibodies"	""	""	""	""	""	"syndrome, myasthenic, congenital, slow channel (SCCMS)"	""
"0000125720"	"04312"	"00152985"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125721"	"04312"	"00152986"	"00006"	"Familial, autosomal recessive"	""	""	"1d"	""	"weak cry"	""	""	""	""	""	""	"syndrome, myasthenic, congenital, slow channel"	""
"0000125722"	"04312"	"00152987"	"00006"	"Familial, autosomal recessive"	""	""	"1d"	""	"decreased movements in utero, weak cry and feeble suck"	""	""	""	""	""	""	"syndrome, myasthenic, congenital, slow channel"	""
"0000125723"	"04312"	"00152988"	"00006"	"Isolated (sporadic)"	"12y"	"developmental motor milestones normal; 12y-ptosis, limited eye movements, no limb weakness"	"0d"	""	"ptosis, limb muscle weakness"	"no AChR antibodies"	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125724"	"04312"	"00152989"	"00006"	"Isolated (sporadic)"	"14y"	"myasthenic symptoms; 14y normal"	"0d"	""	"ptosis, limb muscle weakness"	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125728"	"04312"	"00152994"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital, slow channel (SCCMS)"	""
"0000125764"	"04312"	"00153037"	"00006"	"Unknown"	"8y"	"EMG decremental response on stimulation motor nerves, partial response to cholinesterase inhibitors"	"0d"	""	"severe myasthenic symptoms requiring ventilation/enteric alimentation"	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125779"	"04312"	"00153063"	"00006"	"Unknown"	"19y"	"myasthenic symptoms involving ocular, other cranial and limb muscles; EMG decremental response on stimulation motor nerves, repetitive compound muscle action potential response to single nerve stimuli"	"0d"	""	"myasthenic symptoms"	"no AChR antibodies"	""	""	""	""	""	"syndrome, myasthenic, congenital, slow channel (SCCMS)"	""
"0000125801"	"04312"	"00153090"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125803"	"04312"	"00153092"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125805"	"04312"	"00153094"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125811"	"04312"	"00153100"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125812"	"04312"	"00153101"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125813"	"04312"	"00153102"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125814"	"04312"	"00153103"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125831"	"04312"	"00153120"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125832"	"04312"	"00153121"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125833"	"04312"	"00153122"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125855"	"04312"	"00153144"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125861"	"04312"	"00153150"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125862"	"04312"	"00153151"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125864"	"04312"	"00153153"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125870"	"04312"	"00153159"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125871"	"04312"	"00153162"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125872"	"04312"	"00153163"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125873"	"04312"	"00153164"	"00464"	"Unknown"	""	"congenital ptosis, ophthalmoplegia"	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125874"	"04312"	"00153165"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125875"	"04312"	"00153167"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125876"	"04312"	"00153171"	"00513"	"Isolated (sporadic)"	"36y"	"ptosis, limited eye movements, mild facial/limb weakness; 36y-marked bilateral ptosis, severe bilateral reduction eye abduction, fatigable weakness (more proximal then distal limb muscles); age onset early childhood"	""	""	"myasthenic symptoms"	"no AChR antibodies"	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125877"	"04312"	"00153174"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125878"	"04312"	"00153175"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125879"	"04312"	"00153176"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125880"	"04312"	"00153177"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125881"	"04312"	"00153178"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125882"	"04312"	"00153179"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125883"	"04312"	"00153180"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital, fast channel"	""
"0000125884"	"04312"	"00153181"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital, fast channel"	""
"0000125885"	"04312"	"00153182"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital, fast channel"	""
"0000125886"	"04312"	"00153183"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125887"	"04312"	"00153184"	"00513"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125888"	"04312"	"00153185"	"00513"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125889"	"04312"	"00153187"	"00513"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125890"	"04312"	"00153188"	"00513"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125891"	"04312"	"00153189"	"00513"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125892"	"04312"	"00153190"	"00513"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125893"	"04312"	"00153191"	"00513"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125894"	"04312"	"00153192"	"00513"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125895"	"04312"	"00153193"	"00513"	"Unknown"	""	""	"<1y"	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125896"	"04312"	"00153194"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125897"	"04312"	"00153195"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125898"	"04312"	"00153196"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125899"	"04312"	"00153197"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125900"	"04312"	"00153198"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125901"	"04312"	"00153199"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125902"	"04312"	"00153200"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital, fast channel"	""
"0000125903"	"04312"	"00153201"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125904"	"04312"	"00153202"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125905"	"04312"	"00153203"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125906"	"04312"	"00153204"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125907"	"04312"	"00153205"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125909"	"04312"	"00153207"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125910"	"04312"	"00153208"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125911"	"04312"	"00153209"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125912"	"04312"	"00153210"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125913"	"04312"	"00153211"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125914"	"04312"	"00153212"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125915"	"04312"	"00153213"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125916"	"04312"	"00153214"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125917"	"04312"	"00153215"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125918"	"04312"	"00153216"	"00513"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital, slow channel (SCCMS)"	""
"0000125919"	"04312"	"00153217"	"00513"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital, slow channel (SCCMS)"	""
"0000125920"	"04312"	"00153218"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125921"	"04312"	"00153219"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125923"	"04312"	"00153221"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125924"	"04312"	"00153222"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125925"	"04312"	"00153223"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125926"	"04312"	"00153224"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125927"	"04312"	"00153225"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125928"	"04312"	"00153226"	"00513"	"Unknown"	"18y"	"daytime-dependent ptosis, ophthalmoparesis, exercise-induced generalised weakness; age onset early childhood"	""	""	""	"no AChR antibodies"	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125929"	"04312"	"00153229"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125930"	"04312"	"00153230"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125931"	"04312"	"00153231"	"00513"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125932"	"04312"	"00153232"	"00513"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125933"	"04312"	"00153233"	"00513"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125934"	"04312"	"00153234"	"00513"	"Isolated (sporadic)"	"15y"	"facial weaknessw, generalised muscle atrophy, scoliosis"	"<0d"	""	"weak cry, failed to thrive"	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125935"	"04312"	"00153239"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125936"	"04312"	"00153240"	"00464"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125937"	"04312"	"00153241"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125938"	"04312"	"00153242"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125939"	"04312"	"00153243"	"00464"	"Familial, autosomal recessive"	""	"ptosis, bulbar weakness"	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125945"	"04312"	"00153249"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125946"	"04312"	"00153250"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125947"	"04312"	"00153251"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125948"	"04312"	"00153252"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125949"	"04312"	"00153253"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125950"	"04312"	"00153254"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125951"	"04312"	"00153255"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125952"	"04312"	"00153256"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125953"	"04312"	"00153277"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125954"	"04312"	"00153278"	"00464"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000125955"	"04312"	"00153279"	"00464"	"Familial, autosomal recessive"	""	"general weakness, bilateral ptosis, respiratory insufficiency."	""	""	""	""	""	""	""	""	""	"syndrome, myasthenic, congenital"	""
"0000128786"	"00026"	"00163650"	"02440"	"Familial, autosomal recessive"	""	"Increased nuchal translucency (HP:0010880), Arthrogryposis multiplex congenita (HP:0002804), Fetal akinesia sequence (HP:0001989), Bilateral talipes equinovarus (HP:0001776), Polyhydramnios (HP:0001561), Hypertelorism (HP:0000316), Palpebral edema (HP:0100540), Micrognathia (HP:0000347)"	""	""	""	""	""	""	""	""	"Multiple pterygium syndrome, lethal type"	"Fetal akinesia deformation sequence"	""
"0000156067"	"01926"	"00035229"	"01164"	"Unknown"	""	"muscular hypotonia (aggravation with heat), mild CK-increase, path. rep. stimulation of N. accessorius bilateral,"	""	""	""	""	""	""	""	""	""	"muscular hypotonia"	""
"0000156068"	"00198"	"00035231"	"01164"	"Unknown"	""	"suspected CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156069"	"00198"	"00035232"	"01164"	"Unknown"	""	"suspected congenital myasthenia gravis, family history positive"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156070"	"00198"	"00035234"	"01164"	"Familial"	""	"CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome"	""
"0000156071"	"00198"	"00035235"	"01164"	"Unknown"	""	"suspected Kearns-Sayre syndrome, external ophthalmoplegia"	""	""	""	""	""	""	""	""	""	"Kearns-Sayre syndrome?"	""
"0000156072"	"00198"	"00035236"	"01164"	"Unknown"	""	"suspected CMS: since delivery ptosis, okulobulbäre Schwäche und intermittent double vision, brother died (similar symptoms)"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156073"	"00198"	"00035237"	"01164"	"Unknown"	""	"suspected CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156074"	"00198"	"00035238"	"01164"	"Unknown"	""	"bilateral ptosis, motor retardation, fatigability, status post pneumonia with respiratory insufficiency, suspected CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156075"	"00198"	"00035239"	"01164"	"Unknown"	""	"bilateral ptosis, motor retardation, fatigability, status post pneumonia with respiratory insufficiency, suspected CMS"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000156076"	"00198"	"00035241"	"01164"	"Unknown"	""	"due to infection weakness, ptosis, loss of facial expression, neurographia, Tensilontest positive."	""	""	""	""	""	""	""	""	""	"weakness"	""
"0000156077"	"00198"	"00035243"	"01164"	"Unknown"	""	"suspected CMS with proximal myasthenia, ptosis, external ophthalmoplegia"	""	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome?"	""
"0000158598"	"00198"	"00210000"	"01164"	"Unknown"	""	"HP:0001511 (Intrauterine growth retardation); HP:0003473 (Fatigable weakness)"	""	""	""	""	""	""	""	""	""	""	""
"0000158753"	"00198"	"00210185"	"01164"	"Unknown"	""	"HP:0003457 (EMG abnormality); HP:0003403 (EMG: decremental response of compound muscle action potential to repetitive nerve stimulation); HP:0003738 (Exercise-induced myalgia); HP:0011804 (Abnormality of muscle physiology); HP:0000496 (Abnormality of eye movement)"	""	""	""	""	""	""	""	""	""	""	""
"0000207411"	"00198"	"00269607"	"01164"	"Unknown"	""	"Proximal muscle weakness in lower limbs (HP:0008994); Gait imbalance (HP:0002141); Hypomimic face (HP:0000338); Ptosis (HP:0000508); Proximal muscle weakness (HP:0003701)"	""	""	""	""	""	""	""	""	""	""	""
"0000207707"	"00198"	"00269911"	"01164"	"Unknown"	""	"Fatigable weakness (HP:0003473)"	""	""	""	""	""	""	""	""	""	""	""
"0000222929"	"00198"	"00289298"	"01164"	"Unknown"	""	"Muscle fiber atrophy (HP:0100295); Abnormality of the curvature of the vertebral column (HP:0010674); Muscular hypotonia (HP:0001252); Abnormality of the palate (HP:0000174); Abnormal facial shape (HP:0001999); High palate (HP:0000218); Scoliosis (HP:0002650); Long face (HP:0000276); Abnormal muscle tone (HP:0003808); Abnormality of muscle fibers (HP:0004303)"	""	""	""	""	""	""	""	""	""	""	""
"0000223417"	"00198"	"00295941"	"01164"	"Unknown"	""	"Abnormality of nervous system physiology (HP:0012638); Fatigable weakness (HP:0003473)"	""	""	""	""	""	""	""	""	""	""	""
"0000227621"	"00198"	"00300311"	"01164"	"Unknown"	""	"Myopathy (HP:0003198)"	""	""	""	""	""	""	""	""	""	""	""
"0000227924"	"04312"	"00300613"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000227925"	"04312"	"00300615"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000227926"	"04312"	"00300614"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000235041"	"04318"	"00309728"	"03219"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000269458"	"00198"	"00374248"	"00006"	"Familial, autosomal recessive"	""	"Exercise intolerance, muscle wasting, downslanting palpebral fissures, opthalmoplegia and ptosis"	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269459"	"00198"	"00374249"	"00006"	"Familial, autosomal recessive"	""	"Droopy eyelids and increased fatigability in the evenings"	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269460"	"00198"	"00374250"	"00006"	"Familial, autosomal recessive"	""	"Features suggestive of congenital myasthenic syndrome"	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269461"	"00198"	"00374251"	"00006"	"Familial, autosomal recessive"	""	"Features suggestive of congenital myasthenic syndrome"	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269462"	"00198"	"00374252"	"00006"	"Familial, autosomal recessive"	""	"Ptosis, progressive developmental delay, external ophthalmoplegia and recurrent falls"	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269463"	"00198"	"00374253"	"00006"	"Familial, autosomal recessive"	""	"Features suggestive of congenital myasthenic syndrome"	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269464"	"00198"	"00374254"	"00006"	"Familial, autosomal recessive"	""	"Features suggestive of congenital myasthenic syndrome"	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269465"	"00198"	"00374255"	"00006"	"Familial, autosomal recessive"	""	"Muscle weakness, abnormal eye movements, drooping eyelids, thinning of facial muscles"	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269466"	"00198"	"00374256"	"00006"	"Familial, autosomal recessive"	""	"Ptosis and proximal muscle weakness"	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269467"	"00198"	"00374257"	"00006"	"Familial, autosomal recessive"	""	"Ptosis, double vision, external ophthalmoparesis and proximal lower limb weakness."	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000269901"	"00198"	"00374691"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"myasthenic syndrome"	""
"0000292108"	"05618"	"00399020"	"00006"	"Unknown"	""	"hypotonia, diplegic facies, palpebral ptosis, limb-girdle weakness"	"1d"	""	""	""	""	""	""	""	""	"congenital myasthenic syndrome"	""
"0000292148"	"05618"	"00399060"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"neuromuscular disorder"	""
"0000292198"	"05618"	"00399110"	"00006"	"Unknown"	""	"muscle weakness"	""	""	""	""	""	""	""	""	""	"neuromuscular disorder"	""
"0000305011"	"04312"	"00413030"	"00006"	"Familial, autosomal recessive"	"61y"	"see paper; ..., very extensive over 40 years"	""	""	""	""	""	""	""	""	""	""	""
"0000331988"	"05618"	"00442641"	"00006"	"Isolated (sporadic)"	"22y"	"Proximal and distal muscle weakness, ptosis, reduces respiratory function, fatiqability; muscle biopsy: increased variation in fiber diameter, large group atrophy; increased variation in fiber diameter, large group atrophy; CK within normal range"	"2y"	""	""	""	""	""	""	""	""	"Limb girdle weakness"	""


## Screenings ## Do not remove or alter this header ##
## Count = 259
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000035298"	"00035228"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035299"	"00035229"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035300"	"00035230"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035301"	"00035231"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035302"	"00035232"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035303"	"00035233"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035304"	"00035234"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035305"	"00035235"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035306"	"00035236"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035307"	"00035237"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035308"	"00035238"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035309"	"00035239"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035310"	"00035240"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035311"	"00035241"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035312"	"00035242"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000035313"	"00035243"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000118387"	"00117924"	"1"	"01802"	"01802"	"2017-09-04 17:11:54"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000153824"	"00152961"	"1"	"00006"	"00006"	"2011-02-13 11:22:31"	"00006"	"2013-01-27 10:19:10"	"RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000153825"	"00152962"	"1"	"00006"	"00006"	"2011-02-13 11:22:31"	"00006"	"2013-01-27 10:19:39"	"RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000153847"	"00152984"	"1"	"00006"	"00006"	"2011-02-13 11:26:43"	"00006"	"2013-01-27 10:20:15"	"RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000153848"	"00152985"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2013-01-27 10:22:45"	"RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000153849"	"00152986"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-21 10:33:49"	"SEQ"	"DNA"	""	""
"0000153850"	"00152987"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-21 10:13:06"	"SEQ"	"DNA"	""	""
"0000153851"	"00152988"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-09 19:02:28"	"SEQ"	"DNA"	""	""
"0000153852"	"00152989"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-09 19:02:28"	"SEQ"	"DNA"	""	""
"0000153853"	"00152990"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2013-01-27 10:22:45"	"SEQ"	"DNA"	""	""
"0000153857"	"00152994"	"1"	"00006"	"00006"	"2011-12-28 11:54:56"	"00006"	"2013-01-27 10:22:45"	"SEQ;SSCA"	"DNA"	""	""
"0000153899"	"00153037"	"1"	"00006"	"00006"	"2011-02-13 11:25:00"	"00006"	"2013-01-27 10:22:45"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153903"	"00153041"	"1"	"00006"	"00006"	"2011-02-13 11:25:00"	"00006"	"2013-01-27 10:22:45"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153925"	"00153063"	"1"	"00006"	"00006"	"2011-02-13 11:25:00"	"00006"	"2013-01-27 10:21:20"	"RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000153950"	"00153087"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-21 17:24:39"	"SEQ"	"DNA"	""	""
"0000153951"	"00153088"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-21 17:06:05"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000153952"	"00153089"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-21 12:30:37"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000153953"	"00153090"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ;SSCA"	"DNA"	""	""
"0000153954"	"00153091"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153955"	"00153092"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-21 11:07:34"	"SEQ"	"DNA"	""	""
"0000153956"	"00153093"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 16:12:42"	"SEQ"	"DNA"	""	""
"0000153957"	"00153094"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 15:32:02"	"SEQ"	"DNA"	""	""
"0000153958"	"00153095"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 14:46:36"	"SEQ"	"DNA"	""	""
"0000153959"	"00153096"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 13:49:37"	"PCR;SEQ"	"DNA"	""	""
"0000153960"	"00153097"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 14:03:36"	"PCR;SEQ"	"DNA"	""	""
"0000153961"	"00153098"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 14:31:28"	"SEQ"	"DNA"	""	""
"0000153962"	"00153099"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153963"	"00153100"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2013-01-26 18:15:56"	"SEQ"	"DNA"	""	""
"0000153964"	"00153101"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 10:20:40"	"SEQ"	"DNA"	""	""
"0000153965"	"00153102"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2013-01-26 18:11:08"	"SEQ"	"DNA"	""	""
"0000153966"	"00153103"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2013-01-26 18:12:59"	"SEQ"	"DNA"	""	""
"0000153967"	"00153104"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-17 15:06:01"	"SEQ"	"DNA"	""	""
"0000153968"	"00153105"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-17 14:49:49"	"SEQ"	"DNA"	""	""
"0000153969"	"00153106"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-17 13:09:11"	"SEQ"	"DNA"	""	""
"0000153970"	"00153107"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-17 12:51:01"	"SEQ"	"DNA"	""	""
"0000153971"	"00153108"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-14 17:27:57"	"PCRdig;SEQ;SSCA"	"DNA"	""	""
"0000153972"	"00153109"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-14 17:15:12"	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000153973"	"00153110"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-14 12:23:27"	"SEQ;SSCA"	"DNA"	""	""
"0000153974"	"00153111"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-12 13:30:24"	"SEQ"	"DNA"	""	""
"0000153975"	"00153112"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-14 15:22:22"	"SEQ"	"DNA"	""	""
"0000153976"	"00153113"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153977"	"00153114"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153978"	"00153115"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-07 16:40:25"	"SEQ"	"DNA"	""	""
"0000153979"	"00153116"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153980"	"00153117"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-07 16:41:10"	"SEQ;SSCA"	"DNA"	""	""
"0000153981"	"00153118"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-07 16:35:41"	"SEQ;SSCA"	"DNA"	""	""
"0000153982"	"00153119"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-03 17:23:07"	"SEQ"	"DNA"	""	""
"0000153983"	"00153120"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-11-16 15:30:27"	"SEQ"	"DNA"	""	""
"0000153984"	"00153121"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-11-16 15:19:49"	"SEQ"	"DNA"	""	""
"0000153985"	"00153122"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2020-05-03 19:58:59"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000153986"	"00153123"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153987"	"00153124"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153988"	"00153125"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153989"	"00153126"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153990"	"00153127"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153991"	"00153128"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-11-19 16:20:58"	"SEQ"	"DNA"	""	""
"0000153992"	"00153129"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153993"	"00153130"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153994"	"00153131"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-11-19 11:36:26"	"SEQ"	"DNA"	""	""
"0000153995"	"00153132"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153996"	"00153133"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153997"	"00153134"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153998"	"00153135"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000153999"	"00153136"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154000"	"00153137"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154001"	"00153138"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154002"	"00153139"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154003"	"00153140"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154004"	"00153141"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-07 16:42:06"	"SEQ;SSCA"	"DNA"	""	""
"0000154005"	"00153142"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154006"	"00153143"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154007"	"00153144"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2020-05-03 19:57:14"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000154008"	"00153145"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154009"	"00153146"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154010"	"00153147"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154011"	"00153148"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154012"	"00153149"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 14:13:47"	"SEQ"	"DNA"	""	""
"0000154013"	"00153150"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2017-03-31 14:13:45"	"SEQ;SSCA"	"DNA"	""	""
"0000154014"	"00153151"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-17 17:38:20"	"SEQ"	"DNA"	""	""
"0000154015"	"00153152"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-14 17:08:57"	"PCRdig;RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000154016"	"00153153"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2020-05-03 19:41:29"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000154018"	"00153155"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-11-19 14:48:46"	"SEQ"	"DNA"	""	""
"0000154021"	"00153158"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-11-19 13:00:52"	"RT-PCR;SEQ"	"DNA"	""	""
"0000154022"	"00153159"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2017-03-31 14:13:45"	"RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000154023"	"00153160"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2017-03-31 14:13:45"	"SEQ;SSCA"	"DNA"	""	""
"0000154024"	"00153161"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ;SSCA"	"DNA"	""	""
"0000154025"	"00153162"	"1"	"00464"	"00464"	"2011-09-02 20:14:43"	"00006"	"2012-03-04 15:56:04"	"PCR;SEQ"	"DNA"	""	""
"0000154026"	"00153163"	"1"	"00464"	"00464"	"2011-10-21 22:27:22"	"00006"	"2012-03-04 15:56:04"	"PCR;SEQ"	"DNA"	""	""
"0000154027"	"00153164"	"1"	"00464"	"00464"	"2011-11-16 17:40:23"	"00006"	"2012-03-04 15:56:04"	"PCR;SEQ"	"DNA"	""	""
"0000154028"	"00153165"	"1"	"00464"	"00464"	"2011-11-28 20:03:03"	"00006"	"2012-03-04 15:56:04"	"PCR;SEQ"	"DNA"	""	""
"0000154029"	"00153166"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-09 19:08:25"	"SEQ"	"DNA"	""	""
"0000154030"	"00153167"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ;SSCA"	"DNA"	""	""
"0000154031"	"00153168"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ;SSCA"	"DNA"	""	""
"0000154032"	"00153169"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00006"	"2012-03-04 15:56:04"	"SEQ;SSCA"	"DNA"	""	""
"0000154033"	"00153170"	"1"	"00006"	"00006"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154034"	"00153171"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-09 18:26:59"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000154035"	"00153172"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154036"	"00153173"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-09 19:08:25"	"SEQ"	"DNA"	""	""
"0000154037"	"00153174"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154038"	"00153175"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154039"	"00153176"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154040"	"00153177"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154041"	"00153178"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154042"	"00153179"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154043"	"00153180"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154044"	"00153181"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154045"	"00153182"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154046"	"00153183"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154047"	"00153184"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154048"	"00153185"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154049"	"00153186"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154050"	"00153187"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154051"	"00153188"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154052"	"00153189"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154053"	"00153190"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154054"	"00153191"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154055"	"00153192"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154056"	"00153193"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154057"	"00153194"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154058"	"00153195"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154059"	"00153196"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154060"	"00153197"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154061"	"00153198"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154062"	"00153199"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154063"	"00153200"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154064"	"00153201"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154065"	"00153202"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154066"	"00153203"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154067"	"00153204"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154068"	"00153205"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154070"	"00153207"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154071"	"00153208"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154072"	"00153209"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154073"	"00153210"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154074"	"00153211"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154075"	"00153212"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154076"	"00153213"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154077"	"00153214"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154078"	"00153215"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154079"	"00153216"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154080"	"00153217"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154081"	"00153218"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154082"	"00153219"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154084"	"00153221"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154085"	"00153222"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154086"	"00153223"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154087"	"00153224"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154088"	"00153225"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154089"	"00153226"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154090"	"00153227"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154091"	"00153228"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154092"	"00153229"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154093"	"00153230"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154094"	"00153231"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA"	""	""
"0000154095"	"00153232"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-09 19:08:25"	"SEQ"	"DNA"	""	""
"0000154096"	"00153233"	"1"	"00513"	"00513"	"2011-12-29 17:55:05"	"00006"	"2012-03-09 19:08:25"	"SEQ"	"DNA"	""	""
"0000154097"	"00153234"	"1"	"00513"	"00513"	"2011-12-31 16:37:51"	"00006"	"2012-03-04 16:10:17"	"SEQ"	"DNA"	""	""
"0000154098"	"00153235"	"1"	"00006"	"00006"	"2011-02-13 11:25:00"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA;RNA"	""	""
"0000154099"	"00153236"	"1"	"00006"	"00006"	"2011-02-13 11:25:00"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA;RNA"	""	""
"0000154100"	"00153237"	"1"	"00006"	"00006"	"2011-02-13 11:25:00"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA;RNA"	""	""
"0000154101"	"00153238"	"1"	"00006"	"00006"	"2011-02-13 11:25:00"	"00006"	"2012-03-04 15:56:04"	"SEQ"	"DNA;RNA"	""	""
"0000154102"	"00153239"	"1"	"00464"	"00464"	"2012-05-23 20:20:30"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000154103"	"00153240"	"1"	"00464"	"00464"	"2012-10-01 23:00:58"	"00006"	"2012-10-05 15:27:29"	"PCR;SEQ"	"DNA"	""	""
"0000154104"	"00153241"	"1"	"00464"	"00464"	"2012-10-16 21:58:14"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000154105"	"00153242"	"1"	"00464"	"00464"	"2012-10-16 22:17:16"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000154106"	"00153243"	"1"	"00464"	"00464"	"2012-10-19 15:35:27"	""	""	"PCR;SEQ"	"DNA"	""	""
"0000154107"	"00153244"	"1"	"00006"	"00008"	"2012-12-07 16:34:32"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000154108"	"00153245"	"1"	"00006"	"00008"	"2012-12-14 12:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000154109"	"00153246"	"1"	"00006"	"00008"	"2012-12-14 12:45:59"	""	""	"SEQ;SSCA"	"DNA"	""	""
"0000154110"	"00153247"	"1"	"00006"	"00008"	"2012-12-14 16:45:41"	""	""	"PCR;SEQ;SSCA"	"DNA"	""	""
"0000154111"	"00153248"	"1"	"00006"	"00008"	"2012-12-17 15:01:55"	"00008"	"2012-12-17 15:03:12"	"SEQ"	"DNA"	""	""
"0000154112"	"00153249"	"1"	"00006"	"00008"	"2012-12-19 12:08:16"	""	""	"SEQ"	"DNA"	""	""
"0000154113"	"00153250"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-17 17:38:20"	"SEQ"	"DNA"	""	""
"0000154114"	"00153251"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-17 17:38:20"	"SEQ"	"DNA"	""	""
"0000154115"	"00153252"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 15:32:02"	"RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000154116"	"00153253"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 15:32:02"	"SEQ"	"DNA"	""	""
"0000154117"	"00153254"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 15:32:02"	"SEQ"	"DNA"	""	""
"0000154118"	"00153255"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 15:32:02"	"SEQ"	"DNA"	""	""
"0000154119"	"00153256"	"1"	"00006"	"00006"	"2011-02-13 11:28:19"	"00008"	"2012-12-19 15:32:02"	"SEQ"	"DNA"	""	""
"0000154120"	"00153257"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154121"	"00153258"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154122"	"00153259"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154123"	"00153260"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154124"	"00153261"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154125"	"00153262"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154126"	"00153263"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154127"	"00153264"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154128"	"00153265"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154129"	"00153266"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"RT-PCR;SEQ;SSCA"	"DNA;RNA"	""	""
"0000154130"	"00153267"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154131"	"00153268"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154132"	"00153269"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154133"	"00153270"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154134"	"00153271"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154135"	"00153272"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154136"	"00153273"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154137"	"00153274"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154138"	"00153275"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154139"	"00153276"	"1"	"00006"	"00006"	"2013-01-27 10:25:13"	""	""	"SEQ"	"DNA"	""	""
"0000154140"	"00153277"	"1"	"00464"	"00464"	"2013-06-28 23:16:53"	"00006"	"2013-06-29 21:02:29"	"PCR;SEQ"	"DNA"	""	""
"0000154141"	"00153278"	"1"	"00464"	"00464"	"2014-08-20 18:14:54"	"00006"	"2014-08-22 10:25:03"	"SEQ-NG"	"DNA"	""	""
"0000154142"	"00153279"	"1"	"00464"	"00464"	"2014-09-25 20:44:41"	"00006"	"2014-09-26 23:24:31"	"PCR;SEQ"	"DNA"	""	""
"0000164515"	"00163650"	"1"	"02440"	"02440"	"2018-04-03 16:54:13"	""	""	"SEQ-NG-I"	"DNA"	"Umbilical cord"	""
"0000211057"	"00210000"	"1"	"01164"	"01164"	"2018-12-25 09:53:42"	""	""	"SEQ-NG"	"DNA"	""	""
"0000211261"	"00210185"	"1"	"01164"	"01164"	"2018-12-27 15:49:38"	""	""	"SEQ-NG"	"DNA"	""	""
"0000270763"	"00269607"	"1"	"01164"	"01164"	"2019-12-03 10:07:57"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000271064"	"00269911"	"1"	"01164"	"01164"	"2019-12-10 12:33:19"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000290468"	"00289298"	"1"	"01164"	"01164"	"2020-03-02 12:27:07"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000292942"	"00291774"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292943"	"00291775"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297113"	"00295941"	"1"	"01164"	"01164"	"2020-03-30 10:44:49"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000301432"	"00300311"	"1"	"01164"	"01164"	"2020-04-30 13:28:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000301734"	"00300613"	"1"	"00006"	"00006"	"2020-05-03 19:15:46"	""	""	"SEQ"	"DNA"	""	""
"0000301735"	"00300614"	"1"	"00006"	"00006"	"2020-05-03 19:19:11"	""	""	"SEQ"	"DNA"	""	""
"0000301736"	"00300615"	"1"	"00006"	"00006"	"2020-05-03 19:20:57"	"00006"	"2020-05-03 19:42:14"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000310873"	"00309728"	"1"	"03219"	"03219"	"2020-09-02 07:15:53"	""	""	"SEQ-NG"	"DNA"	""	""
"0000375442"	"00374248"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375443"	"00374249"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375444"	"00374250"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375445"	"00374251"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375446"	"00374252"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375447"	"00374253"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375448"	"00374254"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375449"	"00374255"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375450"	"00374256"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375451"	"00374257"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000375885"	"00374691"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000400265"	"00399020"	"1"	"00006"	"00006"	"2022-01-15 16:40:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"166-gene panel"
"0000400305"	"00399060"	"1"	"00006"	"00006"	"2022-01-15 16:40:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"166-gene panel"
"0000400355"	"00399110"	"1"	"00006"	"00006"	"2022-01-15 16:40:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"166-gene panel"
"0000407865"	"00406621"	"1"	"04292"	"04292"	"2022-04-02 20:35:43"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407868"	"00406624"	"1"	"04292"	"04292"	"2022-04-02 20:53:31"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407869"	"00406625"	"1"	"04292"	"04292"	"2022-04-02 20:55:46"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407875"	"00406628"	"1"	"04292"	"04292"	"2022-04-02 21:09:26"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407876"	"00406629"	"1"	"04292"	"04292"	"2022-04-02 21:11:17"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407890"	"00406643"	"1"	"04292"	"04292"	"2022-04-03 14:14:03"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407891"	"00406644"	"1"	"04292"	"04292"	"2022-04-03 14:19:07"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407893"	"00406646"	"1"	"04292"	"04292"	"2022-04-03 14:26:19"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407896"	"00406649"	"1"	"04292"	"04292"	"2022-04-03 14:38:43"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407898"	"00406651"	"1"	"04292"	"04292"	"2022-04-03 14:48:21"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000407899"	"00406652"	"1"	"04292"	"04292"	"2022-04-03 14:57:12"	"00006"	"2022-04-04 13:55:18"	"SEQ"	"DNA"	""	""
"0000414301"	"00413030"	"1"	"00006"	"00006"	"2022-07-07 15:24:22"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000444125"	"00442641"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 245
"{{screeningid}}"	"{{geneid}}"
"0000035298"	"CHRNE"
"0000035299"	"CHRNE"
"0000035300"	"CHRNE"
"0000035301"	"CHRNE"
"0000035302"	"CHRNE"
"0000035303"	"CHRNE"
"0000035304"	"CHRNE"
"0000035305"	"CHRNE"
"0000035306"	"CHRNE"
"0000035307"	"CHRNE"
"0000035308"	"CHRNE"
"0000035309"	"CHRNE"
"0000035310"	"CHRNE"
"0000035311"	"CHRNE"
"0000035312"	"CHRNE"
"0000035313"	"CHRNE"
"0000153824"	"CHRNA1"
"0000153825"	"CHRNA1"
"0000153847"	"CHRNA1"
"0000153848"	"CHRNA1"
"0000153849"	"CHRNA1"
"0000153850"	"CHRNA1"
"0000153851"	"CHRNA1"
"0000153852"	"CHRNA1"
"0000153853"	"CHRNA1"
"0000153857"	"CHRNA1"
"0000153899"	"CHRNB1"
"0000153903"	"CHRNB1"
"0000153925"	"CHRND"
"0000153950"	"CHRNE"
"0000153951"	"CHRNE"
"0000153952"	"CHRNE"
"0000153953"	"CHRNE"
"0000153954"	"CHRNE"
"0000153955"	"CHRNE"
"0000153956"	"CHRNE"
"0000153957"	"CHRNE"
"0000153958"	"CHRNE"
"0000153959"	"CHRNE"
"0000153960"	"CHRNE"
"0000153961"	"CHRNE"
"0000153962"	"CHRNE"
"0000153963"	"CHRNE"
"0000153964"	"CHRNE"
"0000153965"	"CHRNE"
"0000153966"	"CHRNE"
"0000153967"	"CHRNE"
"0000153968"	"CHRNE"
"0000153969"	"CHRNE"
"0000153970"	"CHRNE"
"0000153971"	"CHRNE"
"0000153972"	"CHRNE"
"0000153973"	"CHRNE"
"0000153974"	"CHRNE"
"0000153975"	"CHRNE"
"0000153976"	"CHRNE"
"0000153977"	"CHRNE"
"0000153978"	"CHRNE"
"0000153979"	"CHRNE"
"0000153980"	"CHRNE"
"0000153981"	"CHRNE"
"0000153982"	"CHRNE"
"0000153983"	"CHRNE"
"0000153984"	"CHRNE"
"0000153985"	"CHRNE"
"0000153986"	"CHRNE"
"0000153987"	"CHRNE"
"0000153988"	"CHRNE"
"0000153989"	"CHRNE"
"0000153990"	"CHRNE"
"0000153991"	"CHRNE"
"0000153992"	"CHRNE"
"0000153993"	"CHRNE"
"0000153994"	"CHRNE"
"0000153995"	"CHRNE"
"0000153996"	"CHRNE"
"0000153997"	"CHRNE"
"0000153998"	"CHRNE"
"0000153999"	"CHRNE"
"0000154000"	"CHRNE"
"0000154001"	"CHRNE"
"0000154002"	"CHRNE"
"0000154003"	"CHRNE"
"0000154004"	"CHRNE"
"0000154005"	"CHRNE"
"0000154006"	"CHRNE"
"0000154007"	"CHRNE"
"0000154008"	"CHRNE"
"0000154009"	"CHRNE"
"0000154010"	"CHRNE"
"0000154011"	"CHRNE"
"0000154012"	"CHRNE"
"0000154013"	"CHRNE"
"0000154014"	"CHRNE"
"0000154015"	"CHRNE"
"0000154016"	"CHRNE"
"0000154018"	"CHRNE"
"0000154021"	"CHRNE"
"0000154022"	"CHRNE"
"0000154023"	"CHRNE"
"0000154024"	"CHRNE"
"0000154025"	"CHRNE"
"0000154026"	"CHRNE"
"0000154027"	"CHRNE"
"0000154028"	"CHRNE"
"0000154029"	"CHRNE"
"0000154030"	"CHRNE"
"0000154031"	"CHRNE"
"0000154032"	"CHRNE"
"0000154033"	"CHRNE"
"0000154034"	"CHRNE"
"0000154035"	"CHRNE"
"0000154036"	"CHRNE"
"0000154037"	"CHRNE"
"0000154038"	"CHRNE"
"0000154039"	"CHRNE"
"0000154040"	"CHRNE"
"0000154041"	"CHRNE"
"0000154042"	"CHRNE"
"0000154043"	"CHRNE"
"0000154044"	"CHRNE"
"0000154045"	"CHRNE"
"0000154046"	"CHRNE"
"0000154047"	"CHRNE"
"0000154048"	"CHRNE"
"0000154049"	"CHRNE"
"0000154050"	"CHRNE"
"0000154051"	"CHRNE"
"0000154052"	"CHRNE"
"0000154053"	"CHRNE"
"0000154054"	"CHRNE"
"0000154055"	"CHRNE"
"0000154056"	"CHRNE"
"0000154057"	"CHRNE"
"0000154058"	"CHRNE"
"0000154059"	"CHRNE"
"0000154060"	"CHRNE"
"0000154061"	"CHRNE"
"0000154062"	"CHRNE"
"0000154063"	"CHRNE"
"0000154064"	"CHRNE"
"0000154065"	"CHRNE"
"0000154066"	"CHRNE"
"0000154067"	"CHRNE"
"0000154068"	"CHRNE"
"0000154070"	"CHRNE"
"0000154071"	"CHRNE"
"0000154072"	"CHRNE"
"0000154073"	"CHRNE"
"0000154074"	"CHRNE"
"0000154075"	"CHRNE"
"0000154076"	"CHRNE"
"0000154077"	"CHRNE"
"0000154078"	"CHRNE"
"0000154079"	"CHRNE"
"0000154080"	"CHRNE"
"0000154081"	"CHRNE"
"0000154082"	"CHRNE"
"0000154084"	"CHRNE"
"0000154085"	"CHRNE"
"0000154086"	"CHRNE"
"0000154087"	"CHRNE"
"0000154088"	"CHRNE"
"0000154089"	"CHRNE"
"0000154090"	"CHRNE"
"0000154091"	"CHRNE"
"0000154092"	"CHRNE"
"0000154093"	"CHRNE"
"0000154094"	"CHRNE"
"0000154095"	"CHRNE"
"0000154096"	"CHRNE"
"0000154097"	"CHRNE"
"0000154098"	"CHRNE"
"0000154099"	"CHRNE"
"0000154100"	"CHRNE"
"0000154101"	"CHRNE"
"0000154102"	"CHRNE"
"0000154103"	"CHRNE"
"0000154104"	"CHRNE"
"0000154105"	"CHRNE"
"0000154106"	"CHRNE"
"0000154107"	"CHRNE"
"0000154108"	"CHRNE"
"0000154109"	"CHRNE"
"0000154110"	"CHRNE"
"0000154111"	"CHRNE"
"0000154112"	"CHRNE"
"0000154113"	"CHRNE"
"0000154114"	"CHRNE"
"0000154115"	"CHRNE"
"0000154116"	"CHRNE"
"0000154117"	"CHRNE"
"0000154118"	"CHRNE"
"0000154119"	"CHRNE"
"0000154120"	"CHRNE"
"0000154121"	"CHRNE"
"0000154122"	"CHRNE"
"0000154123"	"CHRNE"
"0000154124"	"CHRNE"
"0000154125"	"CHRNE"
"0000154126"	"CHRNE"
"0000154127"	"CHRNE"
"0000154128"	"CHRNE"
"0000154129"	"CHRNE"
"0000154130"	"CHRNE"
"0000154131"	"CHRNE"
"0000154132"	"CHRNE"
"0000154133"	"CHRNE"
"0000154134"	"CHRNE"
"0000154135"	"CHRNE"
"0000154136"	"CHRNE"
"0000154137"	"CHRNE"
"0000154138"	"CHRNE"
"0000154139"	"CHRNE"
"0000154140"	"CHRNE"
"0000154141"	"CHRNE"
"0000154142"	"CHRNE"
"0000164515"	"CHRNA1"
"0000164515"	"CHRNB1"
"0000164515"	"CHRND"
"0000164515"	"CHRNE"
"0000164515"	"CHRNG"
"0000164515"	"CNTN1"
"0000164515"	"DOK7"
"0000164515"	"KLHL40"
"0000164515"	"MTM1"
"0000164515"	"MUSK"
"0000164515"	"NALCN"
"0000164515"	"RAPSN"
"0000164515"	"UBA1"
"0000301734"	"CHRNE"
"0000301735"	"CHRNE"
"0000301736"	"CHRNE"
"0000310873"	"CHRNE"
"0000375442"	"CHRNE"
"0000375443"	"CHRNE"
"0000375444"	"CHRNE"
"0000375445"	"CHRNE"
"0000375446"	"CHRNE"
"0000375447"	"CHRNE"
"0000375448"	"CHRNE"
"0000375449"	"CHRNE"
"0000375450"	"CHRNE"
"0000375451"	"CHRNE"
"0000375885"	"CHRNE"


## 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 = 497
"{{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}}"
"0000062417"	"1"	"50"	"17"	"4805179"	"4805180"	"dup"	"0"	"01164"	"CHRNE_000131"	"g.4805179_4805180dup"	""	""	""	""	""	"Germline"	""	"rs1135597"	"0"	""	""	"g.4901884_4901885dup"	""	"VUS"	""
"0000062418"	"1"	"50"	"17"	"4805494"	"4805494"	"subst"	"0.0017059"	"01164"	"CHRNE_000132"	"g.4805494G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902199G>A"	""	"VUS"	""
"0000062419"	"1"	"10"	"17"	"4801160"	"4801160"	"subst"	"0"	"01164"	"CHRNE_000142"	"g.4801160C>A"	""	""	""	""	""	"Germline"	""	"rs7774"	"0"	""	""	"g.4897865C>A"	""	"benign"	""
"0000062420"	"1"	"90"	"17"	"4802177"	"4802177"	"del"	"0"	"01164"	"CHRNE_000141"	"g.4802177del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898882del"	""	"pathogenic"	""
"0000062421"	"1"	"50"	"17"	"4804100"	"4804100"	"subst"	"4.11465E-6"	"01164"	"CHRNE_000139"	"g.4804100G>C"	""	""	""	""	"Alamut and MutationTaster: path."	"Germline"	""	""	"0"	""	""	"g.4900805G>C"	""	"VUS"	""
"0000062422"	"1"	"50"	"17"	"4806035"	"4806035"	"subst"	"0"	"01164"	"CHRNE_000134"	"g.4806035C>T"	""	""	""	""	"path."	"Germline"	""	""	"0"	""	""	"g.4902740C>T"	""	"VUS"	""
"0000062423"	"1"	"10"	"17"	"4801994"	"4801994"	"subst"	"0.010404"	"01164"	"CHRNE_000143"	"g.4801994C>T"	""	""	""	""	"(=c.1482+37): Poly (with algerian families who have also a homozygous mutation)"	"Germline"	""	""	"0"	""	""	"g.4898699C>T"	""	"benign"	""
"0000062424"	"1"	"90"	"17"	"4802680"	"4802680"	"subst"	"0"	"01164"	"CHRNE_000138"	"g.4802680C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899385C>G"	""	"pathogenic"	""
"0000062425"	"3"	"90"	"17"	"4806452"	"4806452"	"subst"	"0"	"01164"	"CHRNE_000136"	"g.4806452C>T"	""	""	""	""	"promoter mutation published as -154G>A in N-bo"	"Germline"	""	""	"0"	""	""	"g.4903157C>T"	""	"pathogenic"	""
"0000062426"	"3"	"90"	"17"	"4805772"	"4805773"	"del"	"0"	"01164"	"CHRNE_000133"	"g.4805772_4805773del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902477_4902478del"	""	"pathogenic"	""
"0000062427"	"1"	"90"	"17"	"4802331"	"4802331"	"subst"	"1.25933E-5"	"01164"	"CHRNE_000140"	"g.4802331C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899036C>G"	""	"pathogenic"	""
"0000062428"	"1"	"90"	"17"	"4802072"	"4802072"	"subst"	"0"	"01164"	"CHRNE_000144"	"g.4802072G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898777G>A"	""	"pathogenic"	""
"0000062429"	"1"	"50"	"17"	"4806343"	"4806343"	"subst"	"4.06144E-6"	"01164"	"CHRNE_000135"	"g.4806343G>C"	""	""	""	""	"alamut: benign"	"Germline"	""	""	"0"	""	""	"g.4903048G>C"	""	"VUS"	""
"0000062430"	"1"	"50"	"17"	"4805179"	"4805180"	"dup"	"0"	"01164"	"CHRNE_000131"	"g.4805179_4805180dup"	""	""	""	""	""	"Germline"	""	"rs113559784"	"0"	""	""	"g.4901884_4901885dup"	""	"VUS"	""
"0000062431"	"1"	"10"	"17"	"4802477"	"4802482"	"del"	"0"	"01164"	"CHRNE_000137"	"g.4802477_4802482del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899182_4899187del"	""	"benign"	""
"0000062432"	"1"	"90"	"17"	"4802087"	"4802087"	"del"	"0"	"01164"	"CHRNE_000145"	"g.4802087del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898792del"	""	"pathogenic"	""
"0000194493"	"3"	"70"	"17"	"4802140"	"4802142"	"del"	"0"	"01802"	"CHRNE_000146"	"g.4802140_4802142del"	""	""	""	"1373_1375delGCT"	""	"Germline"	"yes"	""	"0"	""	""	"g.4898845_4898847del"	""	"likely pathogenic"	""
"0000255956"	"0"	"50"	"17"	"4802093"	"4802093"	"subst"	"0"	"01943"	"CHRNE_000147"	"g.4802093A>C"	""	""	""	"CHRNE(NM_000080.4):c.1420T>G (p.F474V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898798A>C"	""	"VUS"	""
"0000256019"	"0"	"50"	"17"	"4804840"	"4804840"	"subst"	"0.000269074"	"01943"	"C17orf107_000001"	"g.4804840A>G"	""	""	""	"CHRNE(NM_000080.4):c.581T>C (p.I194T, p.(Ile194Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4901545A>G"	""	"VUS"	""
"0000325133"	"0"	"70"	"17"	"4802163"	"4802163"	"dup"	"0"	"01804"	"CHRNE_000148"	"g.4802163dup"	""	""	""	"CHRNE(NM_000080.3):c.1353dupG (p.(Asn452fs))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898868dup"	""	"likely pathogenic"	""
"0000338246"	"0"	"10"	"17"	"4801966"	"4801966"	"subst"	"0"	"02327"	"CHRNE_000149"	"g.4801966G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898671G>A"	""	"benign"	""
"0000338247"	"0"	"10"	"17"	"4801970"	"4801970"	"subst"	"0"	"02327"	"CHRNE_000150"	"g.4801970G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898675G>A"	""	"benign"	""
"0000338248"	"0"	"10"	"17"	"4801988"	"4801988"	"subst"	"0.0104884"	"02327"	"CHRNE_000151"	"g.4801988A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898693A>G"	""	"benign"	""
"0000338249"	"0"	"10"	"17"	"4801994"	"4801994"	"subst"	"0.010404"	"02327"	"CHRNE_000143"	"g.4801994C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898699C>T"	""	"benign"	""
"0000338250"	"0"	"10"	"17"	"4802025"	"4802025"	"subst"	"0.00414518"	"02327"	"CHRNE_000152"	"g.4802025T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898730T>C"	""	"benign"	""
"0000338252"	"0"	"10"	"17"	"4802685"	"4802685"	"subst"	"0.0961023"	"02327"	"CHRNE_000161"	"g.4802685G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4899390G>A"	""	"benign"	""
"0000338253"	"0"	"50"	"17"	"4802891"	"4802891"	"subst"	"0.00120861"	"02327"	"CHRNE_000163"	"g.4802891A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4899596A>G"	""	"VUS"	""
"0000338269"	"0"	"10"	"17"	"4804073"	"4804073"	"subst"	"0.143323"	"02327"	"C17orf107_000003"	"g.4804073G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4900778G>C"	""	"benign"	""
"0000338270"	"0"	"10"	"17"	"4805389"	"4805389"	"subst"	"0.0745518"	"02327"	"C17orf107_000006"	"g.4805389G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4902094G>A"	""	"benign"	""
"0000340167"	"0"	"10"	"17"	"4802317"	"4802317"	"subst"	"0.0752877"	"02327"	"CHRNE_000156"	"g.4802317T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4899022T>C"	""	"benign"	""
"0000340168"	"0"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"02327"	"CHRNE_000157"	"g.4802329G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000340836"	"0"	"10"	"17"	"4806314"	"4806314"	"subst"	"0.00731454"	"02327"	"CHRNE_000164"	"g.4806314G>A"	""	""	""	"CHRNE(NM_000080.3):c.45C>T (p.(Leu15=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4903019G>A"	""	"benign"	""
"0000341465"	"0"	"90"	"17"	"4802087"	"4802087"	"del"	"0"	"02327"	"CHRNE_000145"	"g.4802087del"	""	""	""	"CHRNE(NM_000080.3):c.1429del (p.(Ala477Profs*30)), CHRNE(NM_000080.4):c.1429delG (p.A477Pfs*30)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898792del"	""	"pathogenic"	""
"0000343762"	"0"	"90"	"17"	"4802163"	"4802163"	"dup"	"0"	"02327"	"CHRNE_000154"	"g.4802163dup"	""	""	""	"CHRNE(NM_000080.3):c.1353dupG (p.(Asn452fs))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898868dup"	""	"pathogenic"	""
"0000345396"	"0"	"90"	"17"	"4802525"	"4802531"	"dup"	"0"	"02327"	"CHRNE_000158"	"g.4802525_4802531dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4899230_4899236dup"	""	"pathogenic"	""
"0000345820"	"0"	"10"	"17"	"4806052"	"4806052"	"subst"	"0.0488156"	"02327"	"C17orf107_000002"	"g.4806052C>A"	""	""	""	"CHRNE(NM_000080.3):c.53G>T (p.(Gly18Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4902757C>A"	""	"benign"	""
"0000348964"	"0"	"90"	"17"	"4802612"	"4802612"	"subst"	"0"	"02327"	"CHRNE_000159"	"g.4802612G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4899317G>T"	""	"pathogenic"	""
"0000349413"	"0"	"90"	"17"	"4804155"	"4804155"	"subst"	"0"	"02327"	"C17orf107_000004"	"g.4804155T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4900860T>G"	""	"pathogenic"	""
"0000350558"	"0"	"30"	"17"	"4802111"	"4802111"	"subst"	"0.00752069"	"02327"	"CHRNE_000153"	"g.4802111C>G"	""	""	""	"CHRNE(NM_000080.4):c.1402G>C (p.(Val468Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4898816C>G"	""	"likely benign"	""
"0000350650"	"0"	"50"	"17"	"4805758"	"4805758"	"subst"	"4.06055E-6"	"02327"	"C17orf107_000007"	"g.4805758A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.4902463A>C"	""	"VUS"	""
"0000352755"	"0"	"90"	"17"	"4804140"	"4804140"	"subst"	"0"	"00006"	"CHRNE_000004"	"g.4804140G>A"	""	""	""	"L269F"	"expression cloning mouse CHRNA1 cDNA in HEK293 cells showed prolonged channel open intervals/bursts and spontaneous channel openings, increased affinity for ACh, enhanced desensitization"	"In vitro (cloned)"	""	""	"0"	""	""	"g.4900845G>A"	""	"NA"	""
"0000352756"	"0"	"90"	"17"	"4806322"	"4806322"	"subst"	"2.84301E-5"	"00006"	"CHRNE_000005"	"g.4806322C>T"	""	"{PMID:Ohno 1996:08755487}"	""	""	"expression cloning human cDNA HEK293 cells; reduced expression CHRNE, 0.10 assembly with CHRNA"	"In vitro (cloned)"	""	""	"0"	""	""	"g.4903027C>T"	""	"NA"	""
"0000352757"	"0"	"90"	"17"	"4805305"	"4805305"	"subst"	"1.22118E-5"	"00006"	"CHRNE_000006"	"g.4805305G>A"	""	"{PMID:Ohno 1996:08755487}, {OMIM100725:0003}"	""	""	"expression cloning human cDNA HEK293 cells, markedly decreased rate channel opening"	"In vitro (cloned)"	""	""	"0"	""	""	"g.4902010G>A"	""	"NA"	""
"0000352758"	"0"	"90"	"17"	"4805239"	"4805239"	"subst"	"0.000273581"	"00006"	"CHRNE_000007"	"g.4805239G>A"	""	"{PMID:Ohno 1996:08755487}"	""	""	"expression cloning human cDNA HEK293 cells; reduced expression CHRNE, reduced assembly with other subunits, no assembly with CHRNA"	"In vitro (cloned)"	""	""	"0"	""	""	"g.4901944G>A"	""	"NA"	""
"0000352759"	"0"	"90"	"17"	"4806452"	"4806452"	"subst"	"0"	"00513"	"CHRNE_000080"	"g.4806452C>T"	""	"{PMID:Abicht 2002:11960891}"	""	"-154G>A"	"reporter gene construct rat soleus muscle not induced by agrin"	"In vitro (cloned)"	""	""	"0"	""	""	"g.4903157C>T"	""	"NA"	""
"0000353242"	"21"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00006"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Quiram 1999:10562302}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353243"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00006"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Quiram 1999:10562302}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353244"	"0"	"10"	"17"	"4806052"	"4806052"	"subst"	"0.0488156"	"00006"	"CHRNE_000092"	"g.4806052C>A"	""	"{PMID:Engel 1996:08872460}"	""	"G-8T (G-3V)"	""	"Germline"	""	""	"0"	""	""	"g.4902757C>A"	""	"benign"	""
"0000353245"	"0"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00006"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Sine 1995:07619526}"	""	"C1233T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353246"	"0"	"10"	"17"	"4804073"	"4804073"	"subst"	"0.143323"	"00006"	"CHRNE_000111"	"g.4804073G>C"	""	"{PMID:Sine 1995:07619526}"	""	"C857+15G"	""	"Germline"	""	""	"0"	""	""	"g.4900778G>C"	""	"benign"	""
"0000353247"	"0"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00006"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Engel 1996:08872460}"	""	"C1233T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353248"	"0"	"10"	"17"	"4804073"	"4804073"	"subst"	"0.143323"	"00006"	"CHRNE_000111"	"g.4804073G>C"	""	"{PMID:Engel 1996:08872460}"	""	"C857+15G"	""	"Germline"	""	""	"0"	""	""	"g.4900778G>C"	""	"benign"	""
"0000353249"	"0"	"10"	"17"	"4802685"	"4802685"	"subst"	"0.0961023"	"00006"	"CHRNE_000112"	"g.4802685G>A"	""	"{PMID:Engel 1996:08872460}"	""	"C973-6T"	""	"Germline"	""	""	"0"	""	""	"g.4899390G>A"	""	"benign"	""
"0000353250"	"1"	"90"	"17"	"4804140"	"4804140"	"subst"	"0"	"00006"	"CHRNE_000004"	"g.4804140G>A"	""	"{PMID:Engel 1996:08872460}"	"MnlI-"	"C805T (L269F)"	"not in 102 CMS/200 control chromosomes; probably de novo in patient (father not available)"	"Germline"	""	""	"0"	""	""	"g.4900845G>A"	""	"pathogenic"	""
"0000353251"	"0"	"90"	"17"	"4806322"	"4806322"	"subst"	"2.84301E-5"	"00006"	"CHRNE_000005"	"g.4806322C>T"	""	"{PMID:Ohno 1996:08755487}"	""	"G-24A (G-8R)"	"not in 84 CMS/200 control chromosomes; residue not conserved"	"Germline"	""	""	"0"	""	""	"g.4903027C>T"	""	"pathogenic"	""
"0000353252"	"21"	"90"	"17"	"4805305"	"4805305"	"subst"	"1.22118E-5"	"00006"	"CHRNE_000006"	"g.4805305G>A"	""	"{PMID:Ohno 1996:08755487}, {OMIM100725:0003}"	"MspI-"	"C362T (P121L)"	"not in 84 CMS/200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902010G>A"	""	"pathogenic"	""
"0000353253"	"0"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00006"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Ohno 1996:08755487}"	""	"C1233T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353254"	"21"	"10"	"17"	"4806052"	"4806052"	"subst"	"0.0488156"	"00006"	"CHRNE_000092"	"g.4806052C>A"	""	"{PMID:Ohno 1996:08755487}"	""	"G-8T (G-3V)"	""	"Germline"	""	""	"0"	""	""	"g.4902757C>A"	""	"benign"	""
"0000353255"	"0"	"10"	"17"	"4804073"	"4804073"	"subst"	"0.143323"	"00006"	"CHRNE_000111"	"g.4804073G>C"	""	"{PMID:Ohno 1996:08755487}"	""	"C857+15G"	""	"Germline"	""	""	"0"	""	""	"g.4900778G>C"	""	"benign"	""
"0000353256"	"0"	"10"	"17"	"4802685"	"4802685"	"subst"	"0.0961023"	"00006"	"CHRNE_000112"	"g.4802685G>A"	""	"{PMID:Ohno 1996:08755487}"	""	"C973-6T"	""	"Germline"	""	""	"0"	""	""	"g.4899390G>A"	""	"benign"	""
"0000353257"	"21"	"90"	"17"	"4805918"	"4805922"	"dup"	"0"	"00006"	"CHRNE_000010"	"g.4805918_4805922dup"	""	"{PMID:Ohno 1997:09158150}"	"BslI-"	"127ins5"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902623_4902627dup"	""	"pathogenic"	""
"0000353258"	"11"	"90"	"17"	"4804293"	"4804293"	"subst"	"1.63055E-5"	"00006"	"CHRNE_000014"	"g.4804293G>A"	""	"{PMID:Ohno 1997:09158150}"	"MspI-"	"C734T (P245L)"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4900998G>A"	""	"pathogenic"	""
"0000353259"	"21"	"90"	"17"	"4805606"	"4805606"	"subst"	"4.06072E-6"	"00006"	"CHRNE_000011"	"g.4805606G>A"	""	"{PMID:Ohno 1997:09158150}, {OMIM100725:0004}"	""	"C190T (R64X)"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902311G>A"	""	"pathogenic"	""
"0000353260"	"11"	"90"	"17"	"4805227"	"4805227"	"subst"	"0"	"00006"	"CHRNE_000012"	"g.4805227C>A"	""	"{PMID:Ohno 1997:09158150}, {OMIM100725:0005}"	"BsaWI-"	"G440T (R147L)"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4901932C>A"	""	"pathogenic"	""
"0000353261"	"11"	"90"	"17"	"4806453"	"4806453"	"subst"	"0"	"00006"	"CHRNE_000074"	"g.4806453C>T"	""	"{PMID:Ohno 1999:10382905}"	"MspI-"	"-155G>A"	"not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)"	"Germline"	""	""	"0"	""	""	"g.4903158C>T"	""	"pathogenic"	""
"0000353262"	"21"	"90"	"17"	"4806453"	"4806453"	"subst"	"0"	"00006"	"CHRNE_000074"	"g.4806453C>T"	""	"{PMID:Ohno 1999:10382905}"	"MspI-"	"-155G>A"	"not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)"	"Germline"	""	""	"0"	""	""	"g.4903158C>T"	""	"pathogenic"	""
"0000353263"	"11"	"90"	"17"	"4806453"	"4806453"	"subst"	"0"	"00006"	"CHRNE_000074"	"g.4806453C>T"	""	"{PMID:Ohno 1999:10382905}"	"MspI-"	"-155G>A"	"not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)"	"Germline"	""	""	"0"	""	""	"g.4903158C>T"	""	"pathogenic"	""
"0000353264"	"21"	"90"	"17"	"4806453"	"4806453"	"subst"	"0"	"00006"	"CHRNE_000074"	"g.4806453C>T"	""	"{PMID:Ohno 1999:10382905}"	"MspI-"	"-155G>A"	"not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)"	"Germline"	""	""	"0"	""	""	"g.4903158C>T"	""	"pathogenic"	""
"0000353265"	"21"	"90"	"17"	"4806453"	"4806453"	"subst"	"0"	"00006"	"CHRNE_000074"	"g.4806453C>T"	""	"{PMID:Ohno 1999:10382905}"	"MspI-"	"-155G>A"	"not in 182 CMS/200 control chromosomes; affects Ets binding site promoter mouse (Duclert 1996)"	"Germline"	""	""	"0"	""	""	"g.4903158C>T"	""	"pathogenic"	""
"0000353266"	"0"	"10"	"17"	"4802267"	"4802286"	"del"	"0"	"00006"	"CHRNE_000000"	"g.4802267_4802286del"	""	"{PMID:Sine 1995:07619526}"	""	"1266+10del20"	"description variant unclear\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000353267"	"0"	"10"	"17"	"4802263"	"4802263"	"subst"	"4.51124E-5"	"00006"	"CHRNE_000113"	"g.4802263C>G"	""	"{PMID:Sine 1995:07619526}"	""	"G1266+33C"	""	"Germline"	""	""	"0"	""	""	"g.4898968C>G"	""	"benign"	""
"0000353271"	"0"	"90"	"17"	"4804155"	"4804155"	"subst"	"0"	"00006"	"CHRNE_000003"	"g.4804155T>G"	"0/100"	"{PMID:Ohno 1995:07531341}, {OMIM100725:0001}"	""	"790A>C (T264P)"	""	"Germline"	""	""	"0"	""	""	"g.4900860T>G"	""	"pathogenic"	""
"0000353272"	"0"	"90"	"17"	"4804140"	"4804140"	"subst"	"0"	"00006"	"CHRNE_000004"	"g.4804140G>A"	"0/100"	"{PMID:Gomez 1995:07538206}, {OMIM100725:0002}"	""	"C>T (L269F)"	""	"Germline"	""	""	"0"	""	""	"g.4900845G>A"	""	"pathogenic"	""
"0000353273"	"11"	"90"	"17"	"4806322"	"4806322"	"subst"	"2.84301E-5"	"00006"	"CHRNE_000005"	"g.4806322C>T"	""	"{PMID:Ohno 1996:08755487}"	""	"G-24A (G-8R)"	""	"Germline"	""	""	"0"	""	""	"g.4903027C>T"	""	"pathogenic"	""
"0000353274"	"1"	"90"	"17"	"4805305"	"4805305"	"subst"	"1.22118E-5"	"00006"	"CHRNE_000006"	"g.4805305G>A"	""	"{PMID:Ohno 1996:08755487}, {OMIM100725:0003}"	"MspI-"	"C-60-70T"	"not in 84 CMS/200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902010G>A"	""	"pathogenic"	""
"0000353275"	"2"	"90"	"17"	"4805239"	"4805239"	"subst"	"0.000273581"	"00006"	"CHRNE_000007"	"g.4805239G>A"	""	"{PMID:Ohno 1996:08755487}"	""	"428C>T (S143L)"	"not in 84 CMS/200 control chromosomes; affects N-glycosylation site"	"Germline"	""	""	"0"	""	""	"g.4901944G>A"	""	"pathogenic"	""
"0000353276"	"0"	"10"	"17"	"4806418"	"4806418"	"subst"	"0"	"00006"	"CHRNE_000079"	"g.4806418G>A"	""	"{PMID:Ohno 1996:08755487}"	""	"C362T (P121L)"	""	"Germline"	""	""	"0"	""	""	"g.4903123G>A"	""	"benign"	""
"0000353277"	"0"	"10"	"17"	"4802317"	"4802317"	"subst"	"0.0752877"	"00006"	"CHRNE_000087"	"g.4802317T>C"	""	"{PMID:Ohno 1996:08755487}"	""	"A1245G"	""	"Germline"	""	""	"0"	""	""	"g.4899022T>C"	""	"benign"	""
"0000353278"	"1"	"90"	"17"	"4802550"	"4802551"	"ins"	"4.29612E-6"	"00006"	"CHRNE_000008"	"g.4802550_4802551insA"	""	"{PMID:Engel 1996:08957026}"	""	"11O1insT"	""	"Germline"	""	""	"0"	""	""	"g.4899255_4899256insA"	""	"pathogenic"	""
"0000353279"	"2"	"90"	"17"	"4802163"	"4802163"	"dup"	"0"	"00006"	"CHRNE_000009"	"g.4802163dup"	""	"{PMID:Engel 1996:08957026}"	""	"1293insG"	""	"Germline"	""	""	"0"	""	""	"g.4898868dup"	""	"pathogenic"	""
"0000353280"	"21"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00006"	"CHRNE_000013"	"g.4804468_4804474del"	""	"{PMID:Ohno 1997:09158150}"	"HinfI+"	"553del7"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic"	""
"0000353281"	"11"	"90"	"17"	"4802804"	"4802804"	"subst"	"4.41341E-6"	"00006"	"CHRNE_000015"	"g.4802804G>A"	""	"{PMID:Ohno 1997:09158150}"	"AciI-"	"C931T (R311W)"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4899509G>A"	""	"pathogenic"	""
"0000353282"	"10"	"90"	"17"	"4802311"	"4802328"	"dup"	"0"	"00006"	"CHRNE_000016"	"g.4802311_4802328dup"	""	"{PMID:Milone 1998:09539130}"	""	"1254ins18"	""	"Germline"	""	""	"0"	""	""	"g.4899016_4899033dup"	""	"pathogenic"	""
"0000353283"	"21"	"90"	"17"	"4805285"	"4805285"	"subst"	"0"	"00006"	"CHRNE_000017"	"g.4805285A>T"	""	"{PMID:Milone 1998:09539130}"	""	"C128S"	""	"Germline"	""	""	"0"	""	""	"g.4901990A>T"	""	"pathogenic"	""
"0000353284"	"10"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353285"	"20"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353286"	"10"	"90"	"17"	"4805986"	"4805990"	"dup"	"0"	"00006"	"CHRNE_000019"	"g.4805986_4805990dup"	""	"{PMID:Ohno 1998:09708546}"	"MwoI"	"115_119dupAGCCG"	""	"Germline"	""	""	"0"	""	""	"g.4902691_4902695dup"	""	"pathogenic"	""
"0000353287"	"20"	"90"	"17"	"4805986"	"4805990"	"dup"	"0"	"00006"	"CHRNE_000019"	"g.4805986_4805990dup"	""	"{PMID:Ohno 1998:09708546}"	"MwoI"	"115_119dupAGCCG"	""	"Germline"	""	""	"0"	""	""	"g.4902691_4902695dup"	""	"pathogenic"	""
"0000353288"	"10"	"90"	"17"	"4802358"	"4802376"	"dup"	"0"	"00006"	"CHRNE_000020"	"g.4802358_4802376dup"	""	"{PMID:Ohno 1998:09708546}"	""	"1206ins19"	""	"Germline"	""	""	"0"	""	""	"g.4899063_4899081dup"	""	"pathogenic"	""
"0000353289"	"20"	"90"	"17"	"4802358"	"4802376"	"dup"	"0"	"00006"	"CHRNE_000020"	"g.4802358_4802376dup"	""	"{PMID:Ohno 1998:09708546}"	""	"1206ins19"	""	"Germline"	""	""	"0"	""	""	"g.4899063_4899081dup"	""	"pathogenic"	""
"0000353290"	"10"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00006"	"CHRNE_000021"	"g.4805979dup"	""	"{PMID:Ohno 1998:09708546}"	"BdI"	"70insG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353291"	"20"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00006"	"CHRNE_000021"	"g.4805979dup"	""	"{PMID:Ohno 1998:09708546}"	"BdI"	"70insG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353292"	"10"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000022"	"g.4802187del"	""	"{PMID:Ohno 1998:09708546}"	"DraIII"	"1276delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353293"	"20"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000022"	"g.4802187del"	""	"{PMID:Ohno 1998:09708546}"	"DraIII"	"1276delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353294"	"1"	"90"	"17"	"4804400"	"4804401"	"dup"	"0"	"00006"	"CHRNE_000023"	"g.4804400_4804401dup"	""	"{PMID:Nichols 1999:10211467}"	""	"627insAC"	""	"Germline"	""	""	"0"	""	""	"g.4901105_4901106dup"	""	"pathogenic"	""
"0000353295"	"11"	"90"	"17"	"4805768"	"4805768"	"subst"	"0"	"00006"	"CHRNE_000024"	"g.4805768T>G"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"T51P"	""	"Germline"	""	""	"0"	""	""	"g.4902473T>G"	""	"pathogenic"	""
"0000353296"	"21"	"90"	"17"	"4805768"	"4805768"	"subst"	"0"	"00006"	"CHRNE_000024"	"g.4805768T>G"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"T51P"	""	"Germline"	""	""	"0"	""	""	"g.4902473T>G"	""	"pathogenic"	""
"0000353297"	"10"	"90"	"17"	"4806336"	"4806336"	"subst"	"0"	"00006"	"CHRNE_000025"	"g.4806336A>T"	""	"{PMID:Middleton 1999:10496269}"	""	"V-13D"	""	"Germline"	""	""	"0"	""	""	"g.4903041A>T"	""	"pathogenic"	""
"0000353298"	"20"	"90"	"17"	"4806336"	"4806336"	"subst"	"0"	"00006"	"CHRNE_000025"	"g.4806336A>T"	""	"{PMID:Middleton 1999:10496269}"	""	"V-13D"	""	"Germline"	""	""	"0"	""	""	"g.4903041A>T"	""	"pathogenic"	""
"0000353299"	"11"	"90"	"17"	"4804305"	"4804305"	"del"	"0"	"00006"	"CHRNE_000026"	"g.4804305del"	""	"{PMID:Middleton 1999:10496269}"	""	"723delC"	""	"Germline"	""	""	"0"	""	""	"g.4901010del"	""	"pathogenic"	""
"0000353300"	"21"	"90"	"17"	"4804305"	"4804305"	"del"	"0"	"00006"	"CHRNE_000026"	"g.4804305del"	""	"{PMID:Middleton 1999:10496269}"	""	"723delC"	""	"Germline"	""	""	"0"	""	""	"g.4901010del"	""	"pathogenic"	""
"0000353301"	"11"	"90"	"17"	"4804187"	"4804194"	"dup"	"0"	"00006"	"CHRNE_000027"	"g.4804187_4804194dup"	""	"{PMID:Middleton 1999:10496269}"	"HaeIII"	"760ins8"	""	"Germline"	""	""	"0"	""	""	"g.4900892_4900899dup"	""	"pathogenic"	""
"0000353302"	"21"	"90"	"17"	"4804187"	"4804194"	"dup"	"0"	"00006"	"CHRNE_000027"	"g.4804187_4804194dup"	""	"{PMID:Middleton 1999:10496269}"	"HaeIII"	"760ins8"	""	"Germline"	""	""	"0"	""	""	"g.4900892_4900899dup"	""	"pathogenic"	""
"0000353303"	"1"	"90"	"17"	"4802163"	"4802163"	"dup"	"0"	"00006"	"CHRNE_000009"	"g.4802163dup"	""	"{PMID:Engel 1996:08957026}"	""	"1293insG"	""	"Germline"	""	""	"0"	""	""	"g.4898868dup"	""	"pathogenic"	""
"0000353304"	"2"	"90"	"17"	"4802331"	"4802331"	"subst"	"1.25933E-5"	"00006"	"CHRNE_000028"	"g.4802331C>G"	""	"{PMID:Wang 2000:10962020}"	""	"A411P (1231G>C)"	""	"Germline"	""	""	"0"	""	""	"g.4899036C>G"	""	"pathogenic"	""
"0000353305"	"2"	"90"	"17"	"4802331"	"4802331"	"subst"	"1.25933E-5"	"00006"	"CHRNE_000028"	"g.4802331C>G"	""	"{PMID:Wang 2000:10962020}"	""	"A411P (1231G>C)"	""	"Germline"	""	""	"0"	""	""	"g.4899036C>G"	""	"pathogenic"	""
"0000353306"	"1"	"90"	"17"	"4804886"	"4804886"	"subst"	"8.16113E-6"	"00006"	"CHRNE_000029"	"g.4804886T>G"	""	"{PMID:Wang 2000:10962020}"	""	"T159P (475A>C)"	""	"Germline"	""	""	"0"	""	""	"g.4901591T>G"	""	"pathogenic"	""
"0000353307"	"10"	"90"	"17"	"4805606"	"4805606"	"subst"	"4.06072E-6"	"00006"	"CHRNE_000011"	"g.4805606G>A"	""	"{PMID:Sieb 2000:11030414}"	""	"R64X"	""	"Germline"	""	""	"0"	""	""	"g.4902311G>A"	""	"pathogenic"	""
"0000353308"	"20"	"90"	"17"	"4802627"	"4802627"	"del"	"0"	"00006"	"CHRNE_000030"	"g.4802627del"	""	"{PMID:Sieb 2000:11030414}"	""	"1030delC"	""	"Germline"	""	""	"0"	""	""	"g.4899332del"	""	"pathogenic"	""
"0000353309"	"10"	"90"	"17"	"4802824"	"4802824"	"del"	"0"	"00006"	"CHRNE_000031"	"g.4802824del"	""	"{PMID:Sieb 2000:11030414}"	""	"911delT"	""	"Germline"	""	""	"0"	""	""	"g.4899529del"	""	"pathogenic"	""
"0000353310"	"20"	"90"	"17"	"4805511"	"4805511"	"subst"	"0"	"00006"	"CHRNE_000121"	"g.4805511C>T"	""	"{PMID:Sieb 2000:11030414}"	""	"IVS4+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.4902216C>T"	""	"pathogenic"	""
"0000353311"	"10"	"90"	"17"	"4802660"	"4802660"	"subst"	"0"	"00006"	"CHRNE_000032"	"g.4802660G>A"	""	"{PMID:Croxen 2001:11408331}"	"Bsh1236I"	"C992T (P331L)"	""	"Germline"	""	""	"0"	""	""	"g.4899365G>A"	""	"pathogenic"	""
"0000353312"	"20"	"90"	"17"	"4802660"	"4802660"	"subst"	"0"	"00006"	"CHRNE_000032"	"g.4802660G>A"	""	"{PMID:Croxen 2001:11408331}"	"Bsh1236I"	"C992T (P331L)"	""	"Germline"	""	""	"0"	""	""	"g.4899365G>A"	""	"pathogenic"	""
"0000353313"	"10"	"90"	"17"	"4802355"	"4802373"	"dup"	"0"	"00006"	"CHRNE_000033"	"g.4802355_4802373dup"	""	"{PMID:Croxen 2001:11408331}"	""	"1208ins19"	""	"Germline"	""	""	"0"	""	""	"g.4899060_4899078dup"	""	"pathogenic"	""
"0000353314"	"20"	"90"	"17"	"4802355"	"4802373"	"dup"	"0"	"00006"	"CHRNE_000033"	"g.4802355_4802373dup"	""	"{PMID:Croxen 2001:11408331}"	""	"1208ins19"	""	"Germline"	""	""	"0"	""	""	"g.4899060_4899078dup"	""	"pathogenic"	""
"0000353315"	"2"	"50"	"17"	"4805979"	"4805979"	"dup"	"0"	"00006"	"CHRNE_000021"	"g.4805979dup"	""	"{PMID:Croxen 2002:12034803}"	"BdI"	"70insG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"VUS"	""
"0000353316"	"1"	"90"	"17"	"4806000"	"4806000"	"subst"	"0"	"00006"	"CHRNE_000034"	"g.4806000A>T"	""	"{PMID:Croxen 2002:12034803}"	""	"Y15X"	""	"Germline"	""	""	"0"	""	""	"g.4902705A>T"	""	"pathogenic"	""
"0000353317"	"1"	"90"	"17"	"4805563"	"4805563"	"subst"	"1.62429E-5"	"00006"	"CHRNE_000001"	"g.4805563A>G"	""	"{PMID:Croxen 2002 a:12141316}"	""	"L78P (233 T>C)"	""	"Germline"	""	"rs28929768"	"0"	""	""	"g.4902268A>G"	""	"pathogenic"	""
"0000353318"	"2"	"90"	"17"	"4805563"	"4805563"	"subst"	"1.62429E-5"	"00006"	"CHRNE_000001"	"g.4805563A>G"	""	"{PMID:Croxen 2002 a:12141316}"	""	"L78P (233 T>C)"	""	"Germline"	""	"rs28929768"	"0"	""	""	"g.4902268A>G"	""	"pathogenic"	""
"0000353319"	"11"	"90"	"17"	"4804366"	"4804366"	"subst"	"0"	"00006"	"CHRNE_000002"	"g.4804366G>A"	""	"{PMID:Croxen 2002 a:12141316}"	""	"L221F"	""	"Germline"	""	"rs28999110"	"0"	""	""	"g.4901071G>A"	""	"pathogenic"	""
"0000353320"	"0"	"90"	"17"	"4804838"	"4804838"	"subst"	"8.15468E-6"	"00006"	"CHRNE_000035"	"g.4804838C>T"	""	"{PMID:Sine 2002:12356851}"	""	"D175N"	""	"Germline"	""	""	"0"	""	""	"g.4901543C>T"	""	"pathogenic"	""
"0000353321"	"0"	"90"	"17"	"4804483"	"4804483"	"subst"	"0"	"00006"	"CHRNE_000036"	"g.4804483T>A"	""	"{PMID:Sine 2002:12356851}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901188T>A"	""	"pathogenic"	""
"0000353322"	"1"	"90"	"17"	"4806002"	"4806002"	"subst"	"0.000625523"	"00006"	"CHRNE_000037"	"g.4806002A>G"	""	"{PMID:Ealing 2002:12417530}"	""	"Y15H"	""	"Germline"	""	""	"0"	""	""	"g.4902707A>G"	""	"pathogenic"	""
"0000353323"	"2"	"90"	"17"	"4802087"	"4802087"	"del"	"0"	"00006"	"CHRNE_000063"	"g.4802087del"	""	"{PMID:Ealing 2002:12417530}"	""	"1369delG"	""	"Germline"	""	""	"0"	""	""	"g.4898792del"	""	"pathogenic"	""
"0000353324"	"0"	"90"	"17"	"4802079"	"4802079"	"subst"	"0"	"00006"	"CHRNE_000038"	"g.4802079G>T"	""	"{PMID:Ealing 2002:12417530}"	""	"Y458X"	""	"Germline"	""	""	"0"	""	""	"g.4898784G>T"	""	"pathogenic"	""
"0000353325"	"1"	"90"	"17"	"4804853"	"4804853"	"dup"	"0"	"00006"	"CHRNE_000039"	"g.4804853dup"	""	"{PMID:Ealing 2002:12417530}"	""	"509insA"	""	"Germline"	""	""	"0"	""	""	"g.4901558dup"	""	"pathogenic"	""
"0000353326"	"2"	"70"	"17"	"4802087"	"4802087"	"del"	"0"	"00006"	"CHRNE_000063"	"g.4802087del"	""	"{PMID:Ealing 2002:12417530}"	""	"1369delG"	""	"Germline"	""	""	"0"	""	""	"g.4898792del"	""	"likely pathogenic"	""
"0000353327"	"1"	"90"	"17"	"4802803"	"4802803"	"subst"	"0"	"00006"	"CHRNE_000040"	"g.4802803C>T"	""	"{PMID:Ealing 2002:12417530}"	""	"R311Q"	""	"Germline"	""	""	"0"	""	""	"g.4899508C>T"	""	"pathogenic"	""
"0000353328"	"2"	"90"	"17"	"4802087"	"4802087"	"del"	"0"	"00006"	"CHRNE_000063"	"g.4802087del"	""	"{PMID:Ealing 2002:12417530}"	""	"1369delG"	""	"Germline"	""	""	"0"	""	""	"g.4898792del"	""	"pathogenic"	""
"0000353329"	"0"	"90"	"17"	"4802508"	"4802508"	"subst"	"0"	"00006"	"CHRNE_000041"	"g.4802508G>A"	""	"{PMID:Kraner 2002:12453093}"	""	"Q382X"	""	"Germline"	""	""	"0"	""	""	"g.4899213G>A"	""	"pathogenic"	""
"0000353330"	"21"	"90"	"17"	"4802631"	"4802650"	"dup"	"0"	"00006"	"CHRNE_000042"	"g.4802631_4802650dup"	""	"{PMID:Ohno 2003:14532324}"	""	"1021ins20, 1002–1021dup"	""	"Germline"	""	""	"0"	""	""	"g.4899336_4899355dup"	""	"pathogenic (recessive)"	""
"0000353331"	"21"	"90"	"17"	"4802554"	"4802554"	"dup"	"0"	"00006"	"CHRNE_000043"	"g.4802554dup"	""	"{PMID:Ohno 2003:14532324}"	""	"1098insG"	""	"Germline"	""	""	"0"	""	""	"g.4899259dup"	""	"pathogenic (recessive)"	""
"0000353332"	"1"	"90"	"17"	"4804889"	"4804891"	"del"	"0"	"00006"	"CHRNE_000044"	"g.4804889_4804891del"	""	"{PMID:Ohno 2003:14532324}"	""	"EF157V (ε470del3)"	""	"Germline"	""	""	"0"	""	""	"g.4901594_4901596del"	""	"pathogenic (recessive)"	""
"0000353333"	"0"	"90"	"17"	"4802609"	"4802618"	"dup"	"0"	"00006"	"CHRNE_000045"	"g.4802609_4802618dup"	""	"{PMID:Beeson 2003:14592868}"	""	"1096_1105dupGCCTCGCCCC"	""	"Germline"	""	""	"0"	""	""	"g.4899314_4899323dup"	""	"pathogenic"	""
"0000353334"	"0"	"90"	"17"	"4804820"	"4804820"	"del"	"0"	"00006"	"CHRNE_000046"	"g.4804820del"	""	"{PMID:Beeson 2003:14592868}"	""	"601+1delG"	""	"Germline"	""	""	"0"	""	""	"g.4901525del"	""	"pathogenic"	""
"0000353335"	"0"	"90"	"17"	"4804374"	"4804374"	"subst"	"0"	"00006"	"CHRNE_000047"	"g.4804374C>A"	""	"{PMID:Beeson 2003:14592868}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901079C>A"	""	"pathogenic"	""
"0000353336"	"0"	"90"	"17"	"4804113"	"4804115"	"del"	"0"	"00006"	"CHRNE_000048"	"g.4804113_4804115del"	""	"{PMID:Beeson 2003:14592868}"	""	"892_894delTCT"	""	"Germline"	""	""	"0"	""	""	"g.4900818_4900820del"	""	"pathogenic"	""
"0000353337"	"0"	"90"	"17"	"4802859"	"4802861"	"del"	"0"	"00006"	"CHRNE_000049"	"g.4802859_4802861del"	""	"{PMID:Beeson 2003:14592868}"	""	"934_936delATG"	""	"Germline"	""	""	"0"	""	""	"g.4899564_4899566del"	""	"pathogenic"	""
"0000353338"	"1"	"90"	"17"	"4804850"	"4804850"	"subst"	"0"	"00006"	"CHRNE_000050"	"g.4804850T>A"	""	"{PMID:Soltanzadeh 2005:15965226}"	""	"K171X (511A>T)"	""	"Germline"	""	""	"0"	""	""	"g.4901555T>A"	""	"pathogenic"	""
"0000353339"	"2"	"90"	"17"	"4804850"	"4804850"	"subst"	"0"	"00006"	"CHRNE_000050"	"g.4804850T>A"	""	"{PMID:Soltanzadeh 2005:15965226}"	""	"K171X (511A>T)"	""	"Germline"	""	""	"0"	""	""	"g.4901555T>A"	""	"pathogenic"	""
"0000353340"	"0"	"90"	"17"	"4802398"	"4802413"	"dup"	"0"	"00006"	"CHRNE_000051"	"g.4802398_4802413dup"	""	"{PMID:Ohno 2005:16156036}"	""	"1220-8_1227dupCCCGCCAGCTGCCTTC"	""	"Germline"	""	""	"0"	""	""	"g.4899103_4899118dup"	""	"pathogenic"	""
"0000353341"	"0"	"90"	"17"	"4804170"	"4804170"	"subst"	"0"	"00006"	"CHRNE_000052"	"g.4804170C>A"	""	"{PMID:Fidzianska 2005:16198106}"	""	"(V259F)"	""	"Germline"	""	""	"0"	""	""	"g.4900875C>A"	""	"pathogenic"	""
"0000353342"	"10"	"90"	"17"	"4804170"	"4804170"	"subst"	"0"	"00006"	"CHRNE_000053"	"g.4804170C>G"	""	"{PMID:Outteryck 2009:19289485}"	""	"775G>C (p.Val259Leu)"	""	"Germline"	""	""	"0"	""	""	"g.4900875C>G"	""	"pathogenic"	""
"0000353343"	"0"	"90"	"17"	"4802626"	"4802645"	"del"	"0"	"00006"	"CHRNE_000054"	"g.4802626_4802645del"	""	""	""	"1072_1091delCCGCCGCCCGAGGCCCCCCG"	""	"Germline"	""	""	"0"	""	""	"g.4899331_4899350del"	""	"pathogenic"	""
"0000353344"	"0"	"90"	"17"	"4802627"	"4802627"	"dup"	"0"	"00006"	"CHRNE_000055"	"g.4802627dup"	""	""	""	"1090dupC"	""	"Germline"	""	""	"0"	""	""	"g.4899332dup"	""	"pathogenic"	""
"0000353345"	"0"	"90"	"17"	"4802618"	"4802619"	"ins"	"0"	"00006"	"CHRNE_000056"	"g.4802618_4802619insA"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899323_4899324insA"	""	"pathogenic"	""
"0000353346"	"0"	"90"	"17"	"4802621"	"4802621"	"del"	"0"	"00006"	"CHRNE_000057"	"g.4802621del"	""	""	""	"1093delG"	""	"Germline"	""	""	"0"	""	""	"g.4899326del"	""	"pathogenic"	""
"0000353347"	"0"	"90"	"17"	"4805987"	"4805987"	"subst"	"1.62483E-5"	"00006"	"CHRNE_000058"	"g.4805987G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902692G>A"	""	"pathogenic"	""
"0000353348"	"0"	"90"	"17"	"4802520"	"4802520"	"subst"	"0"	"00006"	"CHRNE_000059"	"g.4802520G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899225G>A"	""	"pathogenic"	""
"0000353349"	"0"	"90"	"17"	"4802365"	"4802365"	"del"	"0"	"00006"	"CHRNE_000060"	"g.4802365del"	""	""	""	"1258delG"	""	"Germline"	""	""	"0"	""	""	"g.4899070del"	""	"pathogenic"	""
"0000353350"	"0"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00006"	"CHRNE_000061"	"g.4805979dup"	""	""	""	"126dupG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353351"	"0"	"90"	"17"	"4802147"	"4802149"	"del"	"0"	"00006"	"CHRNE_000062"	"g.4802147_4802149del"	""	""	""	"1367_1369delACA"	""	"Germline"	""	""	"0"	""	""	"g.4898852_4898854del"	""	"pathogenic"	""
"0000353352"	"1"	"90"	"17"	"4802087"	"4802087"	"del"	"0"	"00006"	"CHRNE_000063"	"g.4802087del"	""	"{PMID:Ealing 2002:12417530}"	""	"1369delG"	""	"Germline"	""	""	"0"	""	""	"g.4898792del"	""	"pathogenic"	""
"0000353353"	"2"	"90"	"17"	"4802087"	"4802087"	"del"	"0"	"00006"	"CHRNE_000063"	"g.4802087del"	""	"{PMID:Ealing 2002:12417530}"	""	"1369delG"	""	"Germline"	""	""	"0"	""	""	"g.4898792del"	""	"pathogenic"	""
"0000353354"	"0"	"90"	"17"	"4805306"	"4805306"	"subst"	"0"	"00006"	"CHRNE_000064"	"g.4805306G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902011G>T"	""	"pathogenic"	""
"0000353355"	"0"	"90"	"17"	"4805275"	"4805277"	"del"	"0"	"00006"	"CHRNE_000065"	"g.4805275_4805277del"	""	""	""	"452_454delAGG"	""	"Germline"	""	""	"0"	""	""	"g.4901980_4901982del"	""	"pathogenic"	""
"0000353356"	"3"	"90"	"17"	"4804901"	"4804901"	"subst"	"0"	"00006"	"CHRNE_000066"	"g.4804901C>A"	""	"{PMID:Ohno 2003:14532324}"	""	"E154X (ε460G>T)"	""	"Germline"	""	""	"0"	""	""	"g.4901606C>A"	""	"pathogenic (recessive)"	""
"0000353357"	"0"	"90"	"17"	"4804375"	"4804375"	"subst"	"0"	"00006"	"CHRNE_000067"	"g.4804375G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901080G>A"	""	"pathogenic"	""
"0000353358"	"0"	"90"	"17"	"4804294"	"4804294"	"del"	"0"	"00006"	"CHRNE_000068"	"g.4804294del"	""	""	""	"794delC"	""	"Germline"	""	""	"0"	""	""	"g.4900999del"	""	"pathogenic"	""
"0000353359"	"0"	"90"	"17"	"4804151"	"4804151"	"subst"	"0"	"00006"	"CHRNE_000069"	"g.4804151A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900856A>G"	""	"pathogenic"	""
"0000353360"	"0"	"90"	"17"	"4802807"	"4802807"	"subst"	"0"	"00006"	"CHRNE_000070"	"g.4802807G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899512G>A"	""	"pathogenic"	""
"0000353361"	"10"	"90"	"17"	"4804283"	"4804283"	"subst"	"0"	"00006"	"CHRNE_000103"	"g.4804283A>G"	""	"{PMID:Ohno 1998:09708546}"	""	"IVS7+2T>C"	""	"Germline"	""	""	"0"	""	""	"g.4900988A>G"	""	"pathogenic"	""
"0000353362"	"20"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00006"	"CHRNE_000021"	"g.4805979dup"	""	"{PMID:Ohno 1998:09708546}"	"BdI"	"70insG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353363"	"11"	"90"	"17"	"4806454"	"4806454"	"subst"	"0"	"00006"	"CHRNE_000071"	"g.4806454G>A"	""	"{PMID:Nichols 1999:10211467}"	"MspI-"	"-156C>T"	"affects promoter N-box"	"Germline"	""	""	"0"	""	""	"g.4903159G>A"	""	"pathogenic"	""
"0000353364"	"21"	"90"	"17"	"4806454"	"4806454"	"subst"	"0"	"00006"	"CHRNE_000071"	"g.4806454G>A"	""	"{PMID:Nichols 1999:10211467}"	"MspI-"	"-156C>T"	"affects promoter N-box"	"Germline"	""	""	"0"	""	""	"g.4903159G>A"	""	"pathogenic"	""
"0000353365"	"11"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00006"	"CHRNE_000122"	"g.4802491A>C"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"IVS10+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>C"	""	"pathogenic"	""
"0000353366"	"21"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00006"	"CHRNE_000122"	"g.4802491A>C"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"IVS10+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>C"	""	"pathogenic"	""
"0000353367"	"10"	"90"	"17"	"4802762"	"4802762"	"subst"	"0"	"00006"	"CHRNE_000120"	"g.4802762C>A"	""	"{PMID:Croxen 2001:11408331}"	"AflII"	"IVS9+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.4899467C>A"	""	"pathogenic"	""
"0000353368"	"20"	"90"	"17"	"4802762"	"4802762"	"subst"	"0"	"00006"	"CHRNE_000120"	"g.4802762C>A"	""	"{PMID:Croxen 2001:11408331}"	"AflII"	"IVS9+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.4899467C>A"	""	"pathogenic"	""
"0000353369"	"10"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00006"	"CHRNE_000013"	"g.4804468_4804474del"	""	"{PMID:Ohno 2003:14532324}"	""	"553del7"	""	"Germline"	""	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic (recessive)"	""
"0000353371"	"0"	"90"	"17"	"4804936"	"4804936"	"subst"	"0"	"00006"	"CHRNE_000095"	"g.4804936C>T"	""	"{PMID:Muller 2005:16087917}"	""	"IVS5-16G>A"	""	"Germline"	""	""	"0"	""	""	"g.4901641C>T"	""	"pathogenic"	""
"0000353374"	"1"	"90"	"17"	"4804150"	"4804150"	"subst"	"0"	"00006"	"CHRNE_000165"	"g.4804150G>A"	""	"{PMID:Richard 2007:17363247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900855G>A"	""	"pathogenic"	""
"0000353375"	"2"	"90"	"17"	"4804150"	"4804150"	"subst"	"0"	"00006"	"CHRNE_000165"	"g.4804150G>A"	""	"{PMID:Richard 2007:17363247}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900855G>A"	""	"pathogenic"	""
"0000353376"	"11"	"90"	"17"	"4806454"	"4806454"	"subst"	"0"	"00006"	"CHRNE_000071"	"g.4806454G>A"	""	"{PMID:Nichols 1999:10211467}"	"MspI-"	"-156C>T"	"affects promoter N-box, no CHRNE mRNA expression"	"Germline"	""	""	"0"	""	""	"g.4903159G>A"	""	"pathogenic"	""
"0000353377"	"21"	"90"	"17"	"4806454"	"4806454"	"subst"	"0"	"00006"	"CHRNE_000071"	"g.4806454G>A"	""	"{PMID:Nichols 1999:10211467}"	"MspI-"	"-156C>T"	"affects promoter N-box, no CHRNE mRNA expression"	"Germline"	""	""	"0"	""	""	"g.4903159G>A"	""	"pathogenic"	""
"0000353378"	"1"	"90"	"17"	"4806454"	"4806454"	"subst"	"0"	"00006"	"CHRNE_000071"	"g.4806454G>A"	""	"{PMID:Nichols 1999:10211467}"	"MspI-"	"-156C>T"	"affects promoter N-box"	"Germline"	""	""	"0"	""	""	"g.4903159G>A"	""	"pathogenic"	""
"0000353379"	"1"	"90"	"17"	"4805305"	"4805305"	"subst"	"1.22118E-5"	"00006"	"CHRNE_000006"	"g.4805305G>A"	""	"{PMID:Ohno 1996:08755487}, {OMIM100725:0003}"	"MspI-"	"C362T (P121L)"	"not in 84 CMS/200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902010G>A"	""	"pathogenic"	""
"0000353380"	"1"	"10"	"17"	"4806052"	"4806052"	"subst"	"0.0488156"	"00006"	"CHRNE_000092"	"g.4806052C>A"	""	"{PMID:Ohno 1996:08755487}"	""	"G-8T (G-3V)"	""	"Germline"	""	""	"0"	""	""	"g.4902757C>A"	""	"benign"	""
"0000353381"	"10"	"90"	"17"	"4802163"	"4802163"	"dup"	"0"	"00464"	"CHRNE_000009"	"g.4802163dup"	""	""	""	"1353dupG"	""	"Germline"	""	""	"0"	""	""	"g.4898868dup"	""	"pathogenic"	""
"0000353382"	"20"	"90"	"17"	"4802163"	"4802163"	"dup"	"0"	"00464"	"CHRNE_000009"	"g.4802163dup"	""	""	""	"1353dupG"	""	"Germline"	""	""	"0"	""	""	"g.4898868dup"	""	"pathogenic"	""
"0000353383"	"10"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00464"	"CHRNE_000018"	"g.4802187del"	""	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353384"	"20"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00464"	"CHRNE_000018"	"g.4802187del"	""	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353385"	"0"	"90"	"17"	"4802824"	"4802824"	"del"	"0"	"00464"	"CHRNE_000031"	"g.4802824del"	""	""	""	"971delT"	""	"Germline"	""	""	"0"	""	""	"g.4899529del"	""	"pathogenic"	""
"0000353386"	"0"	"50"	"17"	"4804209"	"4804212"	"del"	"0"	"00464"	"CHRNE_000072"	"g.4804209_4804212del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900914_4900917del"	""	"VUS"	""
"0000353387"	"0"	"50"	"17"	"4802263"	"4802282"	"del"	"0"	"00464"	"CHRNE_000073"	"g.4802263_4802282del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898968_4898987del"	""	"VUS"	""
"0000353388"	"10"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00464"	"CHRNE_000018"	"g.4802187del"	""	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353389"	"20"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00464"	"CHRNE_000018"	"g.4802187del"	""	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353390"	"1"	"90"	"17"	"4806322"	"4806322"	"subst"	"2.84301E-5"	"00006"	"CHRNE_000005"	"g.4806322C>T"	""	"{PMID:Ohno 1996:08755487}"	""	"G-24A (G-8R)"	"residue not conserved"	"Germline"	""	""	"0"	""	""	"g.4903027C>T"	""	"pathogenic"	""
"0000353391"	"1"	"90"	"17"	"4805305"	"4805305"	"subst"	"1.22118E-5"	"00006"	"CHRNE_000006"	"g.4805305G>A"	""	"{PMID:Ohno 1996:08755487}, {OMIM100725:0003}"	"MspI-"	"C362T (P121L)"	"not in 84 CMS/200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902010G>A"	""	"pathogenic"	""
"0000353392"	"2"	"90"	"17"	"4805239"	"4805239"	"subst"	"0.000273581"	"00006"	"CHRNE_000007"	"g.4805239G>A"	""	"{PMID:Ohno 1996:08755487}"	""	"428C>T (S143L)"	"not in 84 CMS/200 control chromosomes; affects N-glycosylation site"	"Germline"	""	""	"0"	""	""	"g.4901944G>A"	""	"pathogenic"	""
"0000353393"	"0"	"10"	"17"	"4806418"	"4806418"	"subst"	"0"	"00006"	"CHRNE_000079"	"g.4806418G>A"	""	"{PMID:Ohno 1996:08755487}"	""	"C362T (P121L)"	""	"Germline"	""	""	"0"	""	""	"g.4903123G>A"	""	"benign"	""
"0000353394"	"0"	"10"	"17"	"4802317"	"4802317"	"subst"	"0.0752877"	"00006"	"CHRNE_000087"	"g.4802317T>C"	""	"{PMID:Ohno 1996:08755487}"	""	"A1245G"	""	"Germline"	""	""	"0"	""	""	"g.4899022T>C"	""	"benign"	""
"0000353395"	"1"	"90"	"17"	"4805305"	"4805305"	"subst"	"1.22118E-5"	"00006"	"CHRNE_000006"	"g.4805305G>A"	""	"{PMID:Ohno 1996:08755487}, {OMIM100725:0003}"	"MspI-"	"C362T (P121L)"	"not in 84 CMS/200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902010G>A"	""	"pathogenic"	""
"0000353396"	"1"	"90"	"17"	"4805239"	"4805239"	"subst"	"0.000273581"	"00006"	"CHRNE_000007"	"g.4805239G>A"	""	"{PMID:Ohno 1996:08755487}"	"MspI-"	"428C>T (S143L)"	"not in 84 CMS/200 control chromosomes; affects N-glycosylation site"	"Germline"	""	""	"0"	""	""	"g.4901944G>A"	""	"pathogenic"	""
"0000353397"	"0"	"10"	"17"	"4801194"	"4801194"	"subst"	"0"	"00006"	"CHRNE_000088"	"g.4801194T>C"	""	""	""	""	"comparison dbEST"	"Germline"	""	""	"0"	""	""	"g.4897899T>C"	""	"benign"	""
"0000353398"	"21"	"90"	"17"	"4806452"	"4806452"	"subst"	"0"	"00513"	"CHRNE_000080"	"g.4806452C>T"	""	"{PMID:Abicht 2002:11960891}"	"MspI-"	"-154G>A"	"not in 84 CMS/104 control chromosomes; severely reduced expression"	"Germline"	""	""	"0"	""	""	"g.4903157C>T"	""	"pathogenic"	""
"0000353399"	"21"	"90"	"17"	"4805975"	"4807264"	"delins"	"0"	"00513"	"CHRNE_000081"	"g.4805975_4807264delinsTCTTGGATGCG"	""	"{PMID:Abicht 2002:11960891}"	""	""	"1.29 Kb deletion promoter-exon 2; fusion transcripts containing 5\' GP1BA sequences"	"Germline"	""	""	"0"	""	""	"g.4902680_4903969delinsTCTTGGATGCG"	""	"pathogenic"	""
"0000353400"	"21"	"10"	"17"	"4801163"	"4801163"	"subst"	"0"	"00513"	"CHRNE_000089"	"g.4801163C>A"	""	"{PMID:Abicht 2002:11960891}"	""	"1341821G>T"	""	"Germline"	""	""	"0"	""	""	"g.4897868C>A"	""	"benign"	""
"0000353401"	"21"	"10"	"17"	"4805691"	"4805691"	"subst"	"0"	"00513"	"CHRNE_000094"	"g.4805691G>T"	""	"{PMID:Abicht 2002:11960891}"	""	"IVS3+54C>A"	""	"Germline"	""	""	"0"	""	""	"g.4902396G>T"	""	"benign"	""
"0000353402"	"1"	"90"	"17"	"4806452"	"4806452"	"subst"	"0"	"00513"	"CHRNE_000080"	"g.4806452C>T"	""	"{PMID:Abicht 2002:11960891}"	"MspI-"	"-154G>A"	""	"Germline"	""	""	"0"	""	""	"g.4903157C>T"	""	"pathogenic"	""
"0000353403"	"1"	"10"	"17"	"4801163"	"4801163"	"subst"	"0"	"00513"	"CHRNE_000089"	"g.4801163C>A"	""	"{PMID:Abicht 2002:11960891}"	""	"1341821G>T"	""	"Germline"	""	""	"0"	""	""	"g.4897868C>A"	""	"benign"	""
"0000353404"	"1"	"10"	"17"	"4805691"	"4805691"	"subst"	"0"	"00513"	"CHRNE_000094"	"g.4805691G>T"	""	"{PMID:Abicht 2002:11960891}"	""	"IVS3+54C>A"	""	"Germline"	""	""	"0"	""	""	"g.4902396G>T"	""	"benign"	""
"0000353405"	"1"	"90"	"17"	"4805975"	"4807264"	"delins"	"0"	"00513"	"CHRNE_000081"	"g.4805975_4807264delinsTCTTGGATGCG"	""	"{PMID:Abicht 2002:11960891}"	""	""	"1.29 Kb deletion promoter-exon 2"	"Germline"	""	""	"0"	""	""	"g.4902680_4903969delinsTCTTGGATGCG"	""	"pathogenic"	""
"0000353406"	"10"	"90"	"17"	"4806452"	"4806452"	"subst"	"0"	"00513"	"CHRNE_000080"	"g.4806452C>T"	""	""	"MspI-"	""	""	"Germline"	""	""	"0"	""	""	"g.4903157C>T"	""	"pathogenic"	""
"0000353407"	"20"	"90"	"17"	"4806452"	"4806452"	"subst"	"0"	"00513"	"CHRNE_000080"	"g.4806452C>T"	""	""	"MspI-"	""	""	"Germline"	""	""	"0"	""	""	"g.4903157C>T"	""	"pathogenic"	""
"0000353408"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	""	""	""	"1267delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353409"	"1"	"90"	"17"	"4806453"	"4806453"	"subst"	"0"	"00513"	"CHRNE_000074"	"g.4806453C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4903158C>T"	""	"pathogenic"	""
"0000353410"	"1"	"90"	"17"	"4802591"	"4802591"	"subst"	"0"	"00513"	"CHRNE_000083"	"g.4802591G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899296G>T"	""	"pathogenic"	""
"0000353411"	"2"	"90"	"17"	"4804089"	"4804089"	"subst"	"0"	"00513"	"CHRNE_000109"	"g.4804089T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900794T>A"	""	"pathogenic"	""
"0000353412"	"1"	"90"	"17"	"4802520"	"4802520"	"subst"	"0"	"00513"	"CHRNE_000059"	"g.4802520G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899225G>A"	""	"pathogenic"	""
"0000353413"	"2"	"90"	"17"	"4802520"	"4802520"	"subst"	"0"	"00513"	"CHRNE_000059"	"g.4802520G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899225G>A"	""	"pathogenic"	""
"0000353414"	"1"	"90"	"17"	"4802355"	"4802370"	"dup"	"0"	"00513"	"CHRNE_000085"	"g.4802355_4802370dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899060_4899075dup"	""	"pathogenic"	""
"0000353415"	"2"	"90"	"17"	"4804158"	"4804158"	"subst"	"4.08503E-6"	"00513"	"CHRNE_000105"	"g.4804158G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900863G>A"	""	"pathogenic"	""
"0000353416"	"2"	"90"	"17"	"4805285"	"4805285"	"subst"	"0"	"00513"	"CHRNE_000017"	"g.4805285A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901990A>T"	""	"pathogenic"	""
"0000353417"	"1"	"90"	"17"	"4802365"	"4802365"	"del"	"0"	"00513"	"CHRNE_000060"	"g.4802365del"	""	""	""	"1258delG"	""	"Germline"	""	""	"0"	""	""	"g.4899070del"	""	"pathogenic"	""
"0000353418"	"1"	"90"	"17"	"4802331"	"4802331"	"subst"	"1.25933E-5"	"00513"	"CHRNE_000028"	"g.4802331C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899036C>G"	""	"pathogenic"	""
"0000353419"	"2"	"90"	"17"	"4802331"	"4802331"	"subst"	"1.25933E-5"	"00513"	"CHRNE_000028"	"g.4802331C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899036C>G"	""	"pathogenic"	""
"0000353420"	"1"	"90"	"17"	"4802331"	"4802331"	"subst"	"1.25933E-5"	"00513"	"CHRNE_000028"	"g.4802331C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899036C>G"	""	"pathogenic"	""
"0000353421"	"2"	"90"	"17"	"4802331"	"4802331"	"subst"	"1.25933E-5"	"00513"	"CHRNE_000028"	"g.4802331C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899036C>G"	""	"pathogenic"	""
"0000353422"	"1"	"90"	"17"	"4802147"	"4802149"	"del"	"0"	"00513"	"CHRNE_000062"	"g.4802147_4802149del"	""	"Abicht Acta Myologica 2000, Ohno Neuromuscul.Disord. 2004"	""	"1304del3"	""	"Germline"	""	""	"0"	""	""	"g.4898852_4898854del"	""	"pathogenic"	""
"0000353423"	"2"	"90"	"17"	"4804375"	"4804375"	"subst"	"0"	"00513"	"CHRNE_000067"	"g.4804375G>A"	""	"Abicht Acta Myologica 2000, Ohno Neuromuscul.Disord. 2005"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901080G>A"	""	"pathogenic"	""
"0000353424"	"1"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00513"	"CHRNE_000021"	"g.4805979dup"	""	""	""	"130dupG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353425"	"2"	"90"	"17"	"4804204"	"4804204"	"subst"	"1.223E-5"	"00513"	"CHRNE_000104"	"g.4804204T>C"	""	""	""	"IVS7-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.4900909T>C"	""	"pathogenic"	""
"0000353426"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"homozygous in 13/43 patients (11 families); gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353427"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"homozygous in 13/43 patients (11 families); gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353428"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353429"	"2"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353430"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353431"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353432"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353433"	"2"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353434"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353435"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353436"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353437"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353438"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353439"	"2"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353440"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353441"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353442"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353443"	"2"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353444"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353445"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353446"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353447"	"2"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353448"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353449"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353450"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353451"	"2"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353452"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353453"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353454"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353455"	"2"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353456"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353457"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353458"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353459"	"2"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353460"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353461"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	"{PMID:Abicht 1999:10534268}"	""	"1267delG"	"gypsy founder haplotype"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353462"	"1"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353463"	"2"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00513"	"CHRNE_000086"	"g.4802329G>A"	""	"{PMID:Abicht 1999:10534268}"	""	"1233C>T"	""	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353464"	"1"	"90"	"17"	"4802087"	"4802087"	"del"	"0"	"00513"	"CHRNE_000063"	"g.4802087del"	""	""	""	"1429delG"	""	"Germline"	""	""	"0"	""	""	"g.4898792del"	""	"pathogenic"	""
"0000353465"	"2"	"90"	"17"	"4802087"	"4802087"	"del"	"0"	"00513"	"CHRNE_000063"	"g.4802087del"	""	""	""	"1429delG"	""	"Germline"	""	""	"0"	""	""	"g.4898792del"	""	"pathogenic"	""
"0000353466"	"1"	"90"	"17"	"4802072"	"4802072"	"subst"	"0"	"00513"	"CHRNE_000090"	"g.4802072G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898777G>A"	""	"pathogenic"	""
"0000353467"	"2"	"90"	"17"	"4802072"	"4802072"	"subst"	"0"	"00513"	"CHRNE_000090"	"g.4802072G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898777G>A"	""	"pathogenic"	""
"0000353468"	"1"	"90"	"17"	"4805944"	"4805947"	"dup"	"0"	"00513"	"CHRNE_000091"	"g.4805944_4805947dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902649_4902652dup"	""	"pathogenic"	""
"0000353469"	"2"	"90"	"17"	"4805944"	"4805947"	"dup"	"0"	"00513"	"CHRNE_000091"	"g.4805944_4805947dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902649_4902652dup"	""	"pathogenic"	""
"0000353470"	"1"	"90"	"17"	"4805918"	"4805922"	"dup"	"0"	"00513"	"CHRNE_000010"	"g.4805918_4805922dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902623_4902627dup"	""	"pathogenic"	""
"0000353471"	"2"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00513"	"CHRNE_000021"	"g.4805979dup"	""	""	""	"130dupG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353472"	"1"	"90"	"17"	"4806333"	"4806333"	"subst"	"0"	"00513"	"CHRNE_000078"	"g.4806333A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4903038A>C"	""	"pathogenic"	""
"0000353473"	"2"	"90"	"17"	"4806333"	"4806333"	"subst"	"0"	"00513"	"CHRNE_000078"	"g.4806333A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4903038A>C"	""	"pathogenic"	""
"0000353474"	"1"	"90"	"17"	"4805372"	"4805372"	"subst"	"0"	"00513"	"CHRNE_000096"	"g.4805372G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902077G>A"	""	"pathogenic"	""
"0000353475"	"2"	"90"	"17"	"4805372"	"4805372"	"subst"	"0"	"00513"	"CHRNE_000096"	"g.4805372G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902077G>A"	""	"pathogenic"	""
"0000353476"	"1"	"90"	"17"	"4805305"	"4805305"	"subst"	"1.22118E-5"	"00513"	"CHRNE_000006"	"g.4805305G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902010G>A"	""	"pathogenic"	""
"0000353477"	"2"	"90"	"17"	"4804458"	"4804458"	"subst"	"4.16938E-6"	"00513"	"CHRNE_000100"	"g.4804458C>A"	""	""	""	"632G>T"	""	"Germline"	""	""	"0"	""	""	"g.4901163C>A"	""	"pathogenic"	""
"0000353478"	"1"	"90"	"17"	"4805275"	"4805277"	"del"	"0"	"00513"	"CHRNE_000065"	"g.4805275_4805277del"	""	""	""	"450_452del"	""	"Germline"	""	""	"0"	""	""	"g.4901980_4901982del"	""	"pathogenic"	""
"0000353479"	"2"	"90"	"17"	"4805275"	"4805277"	"del"	"0"	"00513"	"CHRNE_000065"	"g.4805275_4805277del"	""	""	""	"450_452del"	""	"Germline"	""	""	"0"	""	""	"g.4901980_4901982del"	""	"pathogenic"	""
"0000353480"	"1"	"90"	"17"	"4805275"	"4805277"	"del"	"0"	"00513"	"CHRNE_000065"	"g.4805275_4805277del"	""	""	""	"450_452del"	""	"Germline"	""	""	"0"	""	""	"g.4901980_4901982del"	""	"pathogenic"	""
"0000353481"	"2"	"90"	"17"	"4805275"	"4805277"	"del"	"0"	"00513"	"CHRNE_000065"	"g.4805275_4805277del"	""	""	""	"450_452del"	""	"Germline"	""	""	"0"	""	""	"g.4901980_4901982del"	""	"pathogenic"	""
"0000353482"	"2"	"50"	"17"	"0"	"0"	""	"0"	"00513"	"MYH2_000008"	"g.?"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000353483"	"1"	"90"	"17"	"4805249"	"4805249"	"subst"	"0"	"00513"	"CHRNE_000097"	"g.4805249G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901954G>A"	""	"pathogenic"	""
"0000353484"	"1"	"90"	"17"	"4804886"	"4804886"	"subst"	"8.16113E-6"	"00513"	"CHRNE_000029"	"g.4804886T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901591T>G"	""	"pathogenic"	""
"0000353485"	"2"	"90"	"17"	"4804886"	"4804886"	"subst"	"8.16113E-6"	"00513"	"CHRNE_000029"	"g.4804886T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901591T>G"	""	"pathogenic"	""
"0000353486"	"1"	"90"	"17"	"4805242"	"4805242"	"subst"	"4.08267E-6"	"00513"	"CHRNE_000098"	"g.4805242C>T"	""	""	""	"545G>A"	""	"Germline"	""	""	"0"	""	""	"g.4901947C>T"	""	"pathogenic"	""
"0000353487"	"2"	"90"	"17"	"4805242"	"4805242"	"subst"	"4.08267E-6"	"00513"	"CHRNE_000098"	"g.4805242C>T"	""	""	""	"545G>A"	""	"Germline"	""	""	"0"	""	""	"g.4901947C>T"	""	"pathogenic"	""
"0000353490"	"1"	"90"	"17"	"4804850"	"4804850"	"subst"	"0"	"00513"	"CHRNE_000050"	"g.4804850T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901555T>A"	""	"pathogenic"	""
"0000353491"	"2"	"90"	"17"	"4804850"	"4804850"	"subst"	"0"	"00513"	"CHRNE_000050"	"g.4804850T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901555T>A"	""	"pathogenic"	""
"0000353492"	"1"	"90"	"17"	"4804462"	"4804462"	"del"	"0"	"00513"	"CHRNE_000099"	"g.4804462del"	""	""	""	"626delT"	""	"Germline"	""	""	"0"	""	""	"g.4901167del"	""	"pathogenic"	""
"0000353493"	"2"	"90"	"17"	"4804462"	"4804462"	"del"	"0"	"00513"	"CHRNE_000099"	"g.4804462del"	""	""	""	"626delT"	""	"Germline"	""	""	"0"	""	""	"g.4901167del"	""	"pathogenic"	""
"0000353494"	"2"	"90"	"17"	"4802824"	"4802824"	"del"	"0"	"00513"	"CHRNE_000031"	"g.4802824del"	""	""	""	"971delT"	""	"Germline"	""	""	"0"	""	""	"g.4899529del"	""	"pathogenic"	""
"0000353495"	"1"	"90"	"17"	"4804384"	"4804386"	"del"	"0"	"00513"	"CHRNE_000101"	"g.4804384_4804386del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901089_4901091del"	""	"pathogenic"	""
"0000353496"	"2"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00513"	"CHRNE_000021"	"g.4805979dup"	""	""	""	"130dupG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353497"	"1"	"90"	"17"	"4804323"	"4804323"	"subst"	"0"	"00513"	"CHRNE_000102"	"g.4804323G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901028G>A"	""	"pathogenic"	""
"0000353498"	"1"	"90"	"17"	"4804323"	"4804323"	"subst"	"0"	"00513"	"CHRNE_000102"	"g.4804323G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901028G>A"	""	"pathogenic"	""
"0000353499"	"2"	"90"	"17"	"4804323"	"4804323"	"subst"	"0"	"00513"	"CHRNE_000102"	"g.4804323G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901028G>A"	""	"pathogenic"	""
"0000353500"	"1"	"90"	"17"	"4804305"	"4804305"	"del"	"0"	"00513"	"CHRNE_000026"	"g.4804305del"	""	""	""	"783delC"	""	"Germline"	""	""	"0"	""	""	"g.4901010del"	""	"pathogenic"	""
"0000353501"	"2"	"90"	"17"	"4804305"	"4804305"	"del"	"0"	"00513"	"CHRNE_000026"	"g.4804305del"	""	""	""	"783delC"	""	"Germline"	""	""	"0"	""	""	"g.4901010del"	""	"pathogenic"	""
"0000353502"	"1"	"90"	"17"	"4804293"	"4804293"	"subst"	"1.63055E-5"	"00513"	"CHRNE_000014"	"g.4804293G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900998G>A"	""	"pathogenic"	""
"0000353503"	"2"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00513"	"CHRNE_000021"	"g.4805979dup"	""	""	""	"130dupG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353504"	"1"	"90"	"17"	"4804293"	"4804293"	"subst"	"1.63055E-5"	"00513"	"CHRNE_000014"	"g.4804293G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900998G>A"	""	"pathogenic"	""
"0000353505"	"2"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00513"	"CHRNE_000021"	"g.4805979dup"	""	""	""	"130dupG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353506"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353507"	"1"	"90"	"17"	"4804294"	"4804294"	"del"	"0"	"00513"	"CHRNE_000068"	"g.4804294del"	""	""	""	"794delC"	""	"Germline"	""	""	"0"	""	""	"g.4900999del"	""	"pathogenic"	""
"0000353508"	"1"	"90"	"17"	"4804170"	"4804170"	"subst"	"0"	"00513"	"CHRNE_000053"	"g.4804170C>G"	""	""	""	"Val259Leu"	""	"Germline"	""	""	"0"	""	""	"g.4900875C>G"	""	"pathogenic"	""
"0000353509"	"1"	"90"	"17"	"4804140"	"4804140"	"subst"	"0"	"00513"	"CHRNE_000004"	"g.4804140G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900845G>A"	""	"pathogenic"	""
"0000353510"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353511"	"1"	"90"	"17"	"4804133"	"4804133"	"subst"	"0"	"00513"	"CHRNE_000107"	"g.4804133G>A"	""	""	""	"872G>A"	""	"Germline"	""	""	"0"	""	""	"g.4900838G>A"	""	"pathogenic"	""
"0000353512"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353513"	"1"	"90"	"17"	"4804133"	"4804133"	"subst"	"0"	"00513"	"CHRNE_000107"	"g.4804133G>A"	""	""	""	"872G>A"	""	"Germline"	""	""	"0"	""	""	"g.4900838G>A"	""	"pathogenic"	""
"0000353515"	"1"	"90"	"17"	"0"	"0"	""	"0"	"00513"	"CHRNE_000110"	"g.?"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000353516"	"2"	"90"	"17"	"0"	"0"	""	"0"	"00513"	"CHRNE_000110"	"g.?"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000353517"	"2"	"90"	"17"	"4805979"	"4805979"	"dup"	"0"	"00513"	"CHRNE_000021"	"g.4805979dup"	""	""	""	"130dupG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"pathogenic"	""
"0000353518"	"1"	"90"	"17"	"0"	"0"	""	"0"	"00513"	"CHRNE_000110"	"g.?"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000353519"	"2"	"90"	"17"	"4802163"	"4802163"	"dup"	"0"	"00513"	"CHRNE_000009"	"g.4802163dup"	""	""	""	"1293insG"	""	"Germline"	""	""	"0"	""	""	"g.4898868dup"	""	"pathogenic"	""
"0000353520"	"1"	"90"	"17"	"0"	"0"	""	"0"	"00513"	"CHRNE_000110"	"g.?"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000353521"	"1"	"90"	"17"	"4806013"	"4806013"	"subst"	"8.12374E-6"	"00513"	"CHRNE_000093"	"g.4806013A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902718A>G"	""	"pathogenic"	""
"0000353522"	"2"	"90"	"17"	"4806013"	"4806013"	"subst"	"8.12374E-6"	"00513"	"CHRNE_000093"	"g.4806013A>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902718A>G"	""	"pathogenic"	""
"0000353523"	"1"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00513"	"CHRNE_000084"	"g.4802491A>G"	""	""	""	"IVS10+2T>C"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>G"	""	"pathogenic"	""
"0000353524"	"2"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00513"	"CHRNE_000084"	"g.4802491A>G"	""	""	""	"IVS10+2T>C"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>G"	""	"pathogenic"	""
"0000353525"	"11"	"90"	"17"	"4802824"	"4802824"	"del"	"0"	"00513"	"CHRNE_000031"	"g.4802824del"	"PmlI+"	"{PMID:M¸ller 2006:16087917}"	""	"911delT"	""	"Germline"	""	""	"0"	""	""	"g.4899529del"	""	"pathogenic"	""
"0000353526"	"21"	"90"	"17"	"4804936"	"4804936"	"subst"	"0"	"00513"	"CHRNE_000095"	"g.4804936C>T"	"MspI-"	"{PMID:M¸ller 2006:16087917}"	""	"IVS5-16G>A"	"not in 200 control chromosomes; splice effect proven by in vitro cloning"	"Germline"	""	""	"0"	""	""	"g.4901641C>T"	""	"pathogenic"	""
"0000353527"	"1"	"90"	"17"	"4804936"	"4804936"	"subst"	"0"	"00513"	"CHRNE_000095"	"g.4804936C>T"	"MspI-"	"{PMID:M¸ller 2006:16087917}"	""	"IVS5-16G>A"	"not in 200 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4901641C>T"	""	"pathogenic"	""
"0000353528"	"1"	"90"	"17"	"4802824"	"4802824"	"del"	"0"	"00513"	"CHRNE_000031"	"g.4802824del"	"PmlI+"	"{PMID:M¸ller 2006:16087917}"	""	"911delT"	""	"Germline"	""	""	"0"	""	""	"g.4899529del"	""	"pathogenic"	""
"0000353529"	"1"	"90"	"17"	"4804204"	"4804204"	"subst"	"1.223E-5"	"00513"	"CHRNE_000104"	"g.4804204T>C"	""	""	""	"IVS7-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.4900909T>C"	""	"pathogenic"	""
"0000353530"	"2"	"90"	"17"	"4804204"	"4804204"	"subst"	"1.223E-5"	"00513"	"CHRNE_000104"	"g.4804204T>C"	""	""	""	"IVS7-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.4900909T>C"	""	"pathogenic"	""
"0000353531"	"2"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00513"	"CHRNE_000018"	"g.4802187del"	"XagI-"	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353532"	"1"	"90"	"17"	"4804204"	"4804204"	"subst"	"1.223E-5"	"00513"	"CHRNE_000104"	"g.4804204T>C"	""	""	""	"IVS7-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.4900909T>C"	""	"pathogenic"	""
"0000353533"	"1"	"90"	"17"	"4804283"	"4804283"	"subst"	"0"	"00513"	"CHRNE_000103"	"g.4804283A>G"	""	""	""	"IVS7+2T>C"	""	"Germline"	""	""	"0"	""	""	"g.4900988A>G"	""	"pathogenic"	""
"0000353534"	"2"	"90"	"17"	"4804283"	"4804283"	"subst"	"0"	"00513"	"CHRNE_000103"	"g.4804283A>G"	""	""	""	"IVS7+2T>C"	""	"Germline"	""	""	"0"	""	""	"g.4900988A>G"	""	"pathogenic"	""
"0000353535"	"2"	"50"	"17"	"0"	"0"	""	"0"	"00513"	"MYH2_000008"	"g.?"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000353536"	"11"	"50"	"17"	"4804104"	"4804104"	"subst"	"0.000718957"	"00513"	"CHRNE_000108"	"g.4804104C>T"	""	""	""	""	"inherited from father"	"Germline"	""	""	"0"	""	""	"g.4900809C>T"	""	"VUS"	""
"0000353537"	"2"	"50"	"17"	"0"	"0"	""	"0"	"00513"	"MYH2_000008"	"g.?"	""	""	""	""	"unknown variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000353538"	"1"	"50"	"17"	"4802640"	"4802640"	"subst"	"0"	"00513"	"CHRNE_000082"	"g.4802640G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899345G>T"	""	"VUS"	""
"0000353539"	"1"	"90"	"17"	"4804140"	"4804140"	"subst"	"0"	"00513"	"CHRNE_000004"	"g.4804140G>A"	""	"{PMID:Colomer 2006:16621558}, {PMID:Chaouch 2011:21822932}"	""	"805C>T (L269F)"	""	"Germline"	""	""	"0"	""	""	"g.4900845G>A"	""	"pathogenic"	""
"0000353540"	"0"	"10"	"17"	"4806052"	"4806052"	"subst"	"0.0488156"	"00006"	"CHRNE_000092"	"g.4806052C>A"	"6/252"	"{PMID:Engel 1996:08872460}"	""	"G-8T (G-3V)"	"control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902757C>A"	""	"benign"	""
"0000353541"	"0"	"10"	"17"	"4804073"	"4804073"	"subst"	"0.143323"	"00006"	"CHRNE_000111"	"g.4804073G>C"	"9/60"	"{PMID:Engel 1996:08872460}"	""	"C857+15G"	"control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4900778G>C"	""	"benign"	""
"0000353542"	"0"	"10"	"17"	"4802685"	"4802685"	"subst"	"0.0961023"	"00006"	"CHRNE_000112"	"g.4802685G>A"	"3/58"	"{PMID:Engel 1996:08872460}"	""	"C973-6T"	"control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4899390G>A"	""	"benign"	""
"0000353543"	"0"	"10"	"17"	"4802329"	"4802329"	"subst"	"0.146492"	"00006"	"CHRNE_000086"	"g.4802329G>A"	"9/74"	"{PMID:Engel 1996:08872460}"	""	"C1233T"	"control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4899034G>A"	""	"benign"	""
"0000353544"	"1"	"70"	"17"	"4804838"	"4804838"	"subst"	"4.07734E-6"	"00464"	"CHRNE_000114"	"g.4804838C>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.4901543C>G"	""	"likely pathogenic"	""
"0000353545"	"2"	"70"	"17"	"4804455"	"4804473"	"del"	"0"	"00464"	"CHRNE_000115"	"g.4804455_4804473del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.4901160_4901178del"	""	"likely pathogenic"	""
"0000353546"	"1"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00464"	"CHRNE_000013"	"g.4804468_4804474del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic"	""
"0000353547"	"2"	"90"	"17"	"4802680"	"4802680"	"subst"	"0"	"00464"	"CHRNE_000116"	"g.4802680C>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899385C>G"	""	"pathogenic"	""
"0000353548"	"2"	"50"	"17"	"4804209"	"4804212"	"del"	"0"	"00464"	"CHRNE_000072"	"g.4804209_4804212del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900914_4900917del"	""	"VUS"	""
"0000353549"	"1"	"70"	"17"	"4802591"	"4802591"	"subst"	"0"	"00464"	"CHRNE_000083"	"g.4802591G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899296G>T"	""	"likely pathogenic"	""
"0000353550"	"10"	"70"	"17"	"4802295"	"4802295"	"subst"	"0"	"00464"	"CHRNE_000117"	"g.4802295C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899000C>T"	""	"likely pathogenic"	""
"0000353551"	"20"	"70"	"17"	"4802295"	"4802295"	"subst"	"0"	"00464"	"CHRNE_000117"	"g.4802295C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899000C>T"	""	"likely pathogenic"	""
"0000353552"	"1"	"90"	"17"	"4802621"	"4802621"	"del"	"0"	"00464"	"CHRNE_000118"	"g.4802621del"	""	""	""	"1093delG"	""	"Germline"	""	""	"0"	""	""	"g.4899326del"	""	"pathogenic"	""
"0000353553"	"2"	"70"	"17"	"4802285"	"4802307"	"del"	"0"	"00464"	"CHRNE_000119"	"g.4802285_4802307del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898990_4899012del"	""	"likely pathogenic"	""
"0000353554"	"10"	"50"	"17"	"4802803"	"4802803"	"subst"	"0"	"00006"	"CHRNE_000040"	"g.4802803C>T"	""	"{PMID:Ealing 2002:12417530}"	""	"R311Q"	""	"Germline"	""	""	"0"	""	""	"g.4899508C>T"	""	"VUS"	""
"0000353555"	"20"	"50"	"17"	"4802803"	"4802803"	"subst"	"0"	"00006"	"CHRNE_000040"	"g.4802803C>T"	""	"{PMID:Ealing 2002:12417530}"	""	"R311Q"	""	"Germline"	""	""	"0"	""	""	"g.4899508C>T"	""	"VUS"	""
"0000353556"	"21"	"90"	"17"	"4804366"	"4804366"	"subst"	"0"	"00006"	"CHRNE_000002"	"g.4804366G>A"	""	"{PMID:Croxen 2002 a:12141316}"	""	"L221F"	""	"Germline"	""	"rs28999110"	"0"	""	""	"g.4901071G>A"	""	"pathogenic"	""
"0000353557"	"2"	"50"	"17"	"4805979"	"4805979"	"dup"	"0"	"00006"	"CHRNE_000021"	"g.4805979dup"	""	"{PMID:Croxen 2002:12034803}"	""	"70insG"	""	"Germline"	""	""	"0"	""	""	"g.4902684dup"	""	"VUS"	""
"0000353558"	"1"	"90"	"17"	"4806000"	"4806000"	"subst"	"0"	"00006"	"CHRNE_000034"	"g.4806000A>T"	""	"{PMID:Croxen 2002:12034803}"	""	"Y15X"	""	"Germline"	""	""	"0"	""	""	"g.4902705A>T"	""	"pathogenic"	""
"0000353559"	"10"	"90"	"17"	"4802163"	"4802163"	"dup"	"0"	"00006"	"CHRNE_000009"	"g.4802163dup"	""	"{PMID:Croxen 2001:11408331}"	""	"1293insG"	""	"Germline"	""	""	"0"	""	""	"g.4898868dup"	""	"pathogenic"	""
"0000353560"	"20"	"90"	"17"	"4802163"	"4802163"	"dup"	"0"	"00006"	"CHRNE_000009"	"g.4802163dup"	""	"{PMID:Croxen 2001:11408331}"	""	"1293insG"	""	"Germline"	""	""	"0"	""	""	"g.4898868dup"	""	"pathogenic"	""
"0000353561"	"10"	"90"	"17"	"4802331"	"4802331"	"subst"	"1.25933E-5"	"00006"	"CHRNE_000028"	"g.4802331C>G"	""	"{PMID:Wang 2000:10962020}"	""	"A411P (1231G>C)"	""	"Germline"	""	""	"0"	""	""	"g.4899036C>G"	""	"pathogenic"	""
"0000353562"	"20"	"90"	"17"	"4802331"	"4802331"	"subst"	"1.25933E-5"	"00006"	"CHRNE_000028"	"g.4802331C>G"	""	"{PMID:Wang 2000:10962020}"	""	"A411P (1231G>C)"	""	"Germline"	""	""	"0"	""	""	"g.4899036C>G"	""	"pathogenic"	""
"0000353563"	"11"	"90"	"17"	"4802804"	"4802804"	"subst"	"4.41341E-6"	"00006"	"CHRNE_000015"	"g.4802804G>A"	""	"{PMID:Middleton 1999:10496269}, {PMID:Ohno 1997:09158150}"	"AciI-"	"R311W"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4899509G>A"	""	"pathogenic"	""
"0000353564"	"21"	"90"	"17"	"4802804"	"4802804"	"subst"	"4.41341E-6"	"00006"	"CHRNE_000015"	"g.4802804G>A"	""	"{PMID:Middleton 1999:10496269}, {PMID:Ohno 1997:09158150}"	"AciI-"	"R311W"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4899509G>A"	""	"pathogenic"	""
"0000353565"	"11"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00006"	"CHRNE_000122"	"g.4802491A>C"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"IVS10+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>C"	""	"pathogenic"	""
"0000353566"	"21"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00006"	"CHRNE_000122"	"g.4802491A>C"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"IVS10+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>C"	""	"pathogenic"	""
"0000353567"	"11"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00006"	"CHRNE_000122"	"g.4802491A>C"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"IVS10+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>C"	""	"pathogenic"	""
"0000353568"	"21"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00006"	"CHRNE_000122"	"g.4802491A>C"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"IVS10+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>C"	""	"pathogenic"	""
"0000353569"	"11"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353570"	"21"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353571"	"11"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353572"	"21"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353573"	"11"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353574"	"21"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353575"	"11"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353576"	"21"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353577"	"11"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353578"	"21"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353579"	"1"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00006"	"CHRNE_000013"	"g.4804468_4804474del"	""	"{PMID:Ohno 1997:09158150}"	"HinfI+"	"553del7"	""	"Germline"	""	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic"	""
"0000353580"	"1"	"90"	"17"	"4802804"	"4802804"	"subst"	"4.41341E-6"	"00006"	"CHRNE_000015"	"g.4802804G>A"	""	"{PMID:Ohno 1997:09158150}"	"AciI-"	"C931T (R311W)"	""	"Germline"	""	""	"0"	""	""	"g.4899509G>A"	""	"pathogenic"	""
"0000353581"	"10"	"90"	"17"	"4805918"	"4805922"	"dup"	"0"	"00006"	"CHRNE_000010"	"g.4805918_4805922dup"	""	"{PMID:Ohno 1997:09158150}"	"BslI-"	"127ins5"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902623_4902627dup"	""	"pathogenic"	""
"0000353582"	"1"	"90"	"17"	"4804293"	"4804293"	"subst"	"1.63055E-5"	"00006"	"CHRNE_000014"	"g.4804293G>A"	""	"{PMID:Ohno 1997:09158150}"	"MspI-"	"C734T (P245L)"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4900998G>A"	""	"pathogenic"	""
"0000353583"	"1"	"90"	"17"	"4805606"	"4805606"	"subst"	"4.06072E-6"	"00006"	"CHRNE_000011"	"g.4805606G>A"	""	"{PMID:Ohno 1997:09158150}, {OMIM100725:0004}"	""	"C190T (R64X)"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4902311G>A"	""	"pathogenic"	""
"0000353584"	"1"	"90"	"17"	"4805227"	"4805227"	"subst"	"0"	"00006"	"CHRNE_000012"	"g.4805227C>A"	""	"{PMID:Ohno 1997:09158150}, {OMIM100725:0005}"	"BsaWI-"	"G440T (R147L)"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4901932C>A"	""	"pathogenic"	""
"0000353585"	"1"	"90"	"17"	"4802804"	"4802804"	"subst"	"4.41341E-6"	"00006"	"CHRNE_000015"	"g.4802804G>A"	""	"{PMID:Middleton 1999:10496269}, {PMID:Ohno 1997:09158150}"	"AciI-"	"R311W"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4899509G>A"	""	"pathogenic"	""
"0000353586"	"1"	"90"	"17"	"4802804"	"4802804"	"subst"	"4.41341E-6"	"00006"	"CHRNE_000015"	"g.4802804G>A"	""	"{PMID:Middleton 1999:10496269}, {PMID:Ohno 1997:09158150}"	"AciI-"	"R311W"	"not in 100 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4899509G>A"	""	"pathogenic"	""
"0000353587"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353588"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353589"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353590"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353591"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353592"	"1"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Middleton 1999:10496269}, {PMID:Croxen 1998:09668239}"	"EcoNI"	"1267delG"	"not in 120 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353593"	"1"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00006"	"CHRNE_000122"	"g.4802491A>C"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"IVS10+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>C"	""	"pathogenic"	""
"0000353594"	"1"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00006"	"CHRNE_000122"	"g.4802491A>C"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"IVS10+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>C"	""	"pathogenic"	""
"0000353595"	"1"	"90"	"17"	"4802491"	"4802491"	"subst"	"0"	"00006"	"CHRNE_000122"	"g.4802491A>C"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"IVS10+2T>G"	""	"Germline"	""	""	"0"	""	""	"g.4899196A>C"	""	"pathogenic"	""
"0000353596"	"1"	"90"	"17"	"4805768"	"4805768"	"subst"	"0"	"00006"	"CHRNE_000024"	"g.4805768T>G"	""	"{PMID:Middleton 1999:10496269}"	"HphI"	"T51P"	""	"Germline"	""	""	"0"	""	""	"g.4902473T>G"	""	"pathogenic"	""
"0000353597"	"1"	"90"	"17"	"4804305"	"4804305"	"del"	"0"	"00006"	"CHRNE_000026"	"g.4804305del"	""	"{PMID:Middleton 1999:10496269}"	""	"723delC"	""	"Germline"	""	""	"0"	""	""	"g.4901010del"	""	"pathogenic"	""
"0000353598"	"1"	"90"	"17"	"4804187"	"4804194"	"dup"	"0"	"00006"	"CHRNE_000027"	"g.4804187_4804194dup"	""	"{PMID:Middleton 1999:10496269}"	"HaeIII"	"760ins8"	""	"Germline"	""	""	"0"	""	""	"g.4900892_4900899dup"	""	"pathogenic"	""
"0000353599"	"10"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00464"	"CHRNE_000123"	"g.4802187del"	""	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353600"	"20"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00464"	"CHRNE_000123"	"g.4802187del"	""	""	""	"1327delG"	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000353601"	"1"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00464"	"CHRNE_000013"	"g.4804468_4804474del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic"	""
"0000353602"	"2"	"90"	"17"	"4802391"	"4802391"	"subst"	"0"	"00464"	"CHRNE_000124"	"g.4802391G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899096G>A"	""	"pathogenic"	""
"0000353603"	"2"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00464"	"CHRNE_000013"	"g.4804468_4804474del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic"	""
"0000353604"	"1"	"70"	"17"	"4804891"	"4804893"	"del"	"0"	"00464"	"CHRNE_000125"	"g.4804891_4804893del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901596_4901598del"	""	"likely pathogenic"	""
"0000367753"	"0"	"10"	"17"	"4802685"	"4802685"	"subst"	"0.0961023"	"02440"	"CHRNE_000112"	"g.4802685G>A"	"0.07 controls"	""	""	""	""	"Unknown"	"?"	"rs2075763"	"0"	""	""	"g.4899390G>A"	""	"benign"	""
"0000367754"	"0"	"10"	"17"	"4804073"	"4804073"	"subst"	"0.143323"	"02440"	"CHRNE_000111"	"g.4804073G>C"	"0.14 controls"	""	""	""	""	"Unknown"	"?"	"rs12942540"	"0"	""	""	"g.4900778G>C"	""	"benign"	""
"0000367755"	"0"	"10"	"17"	"4804902"	"4804902"	"subst"	"0.0372711"	"02440"	"CHRNE_000167"	"g.4804902G>A"	"0.05 controls"	""	""	""	""	"Unknown"	"?"	"rs33970119"	"0"	""	""	"g.4901607G>A"	""	"benign"	""
"0000442475"	"0"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"01164"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	"ACMG grading: PM2,PVS1,PP1; no second variant detected in CHRNE; LoF variants are AR.; reported in Croxen  1999. Ann Neurol 46: 639; Morar  2004. Am J Hum Genet 75: 596; Natera-de Benito  2016. Neuromuscul Disord 26: 789"	"Germline"	""	"rs763258280"	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000442730"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"01164"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	"ACMG grading: PM2,PP5,PP1,PVS1; aka 1267delG; reported in Croxen  1998. Ann N Y Acad Sci 13: 195; Croxen  1999. Ann Neurol 46: 639; Natera-de Benito  2016. Neuromuscul Dis 26: 789-95"	"Germline"	""	"rs763258280"	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000562115"	"0"	"30"	"17"	"4802593"	"4802593"	"subst"	"0.00306965"	"02326"	"C17orf107_000010"	"g.4802593C>A"	""	""	""	"CHRNE(NM_000080.4):c.1119G>T (p.S373=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.4899298C>A"	""	"likely benign"	""
"0000562117"	"0"	"90"	"17"	"4804140"	"4804140"	"subst"	"0"	"02327"	"CHRNE_000004"	"g.4804140G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.4900845G>A"	""	"pathogenic"	""
"0000604588"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"01164"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	"ACMG grading: PVS1, PM2, PP1; variant reported in Croxen  1998. Ann N Y Acad Sci 13: 195; Croxen  1999. Ann Neurol 46: 639; Natera-de Benito  2016. Neuromuscul Dis 26: 789-95; Abicht  1999. Neurology 53: 1564-9"	"Germline"	""	"rs763258280"	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000616659"	"0"	"30"	"17"	"4802047"	"4802047"	"subst"	"0"	"01804"	"C17orf107_000013"	"g.4802047G>A"	""	""	""	"CHRNE(NM_000080.3):c.1466C>T (p.(Pro489Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.4898752G>A"	""	"likely benign"	""
"0000616660"	"0"	"30"	"17"	"4806052"	"4806052"	"subst"	"0.0488156"	"01804"	"C17orf107_000002"	"g.4806052C>A"	""	""	""	"CHRNE(NM_000080.3):c.53G>T (p.(Gly18Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.4902757C>A"	""	"likely benign"	""
"0000624912"	"0"	"70"	"17"	"4804294"	"4804294"	"del"	"0"	"01164"	"CHRNE_000068"	"g.4804294del"	""	""	""	""	"ACMG: PVS1,PM2"	"Germline"	""	"rs756675414"	"0"	""	""	"g.4900999del"	""	"likely pathogenic"	"ACMG"
"0000624914"	"0"	"70"	"17"	"4806454"	"4806454"	"subst"	"0"	"01164"	"CHRNE_000071"	"g.4806454G>A"	""	""	""	""	"ACMG: PS3,PM2"	"Germline"	""	"rs748144899"	"0"	""	""	"g.4903159G>A"	""	"likely pathogenic"	"ACMG"
"0000647137"	"0"	"50"	"17"	"4802643"	"4802643"	"subst"	"0"	"01164"	"CHRNE_000168"	"g.4802643G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899348G>A"	""	"VUS"	"ACMG"
"0000649631"	"1"	"30"	"17"	"4806052"	"4806052"	"subst"	"0.0488156"	"03575"	"C17orf107_000002"	"g.4806052C>A"	"47/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"47 heterozygous, no homozygous; {DB:CLININrs4790235}"	"Germline"	""	"rs4790235"	"0"	""	""	"g.4902757C>A"	""	"likely benign"	""
"0000649632"	"1"	"50"	"17"	"4806322"	"4806322"	"subst"	"2.84301E-5"	"03575"	"CHRNE_000005"	"g.4806322C>T"	"2/2765 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs372635387}"	"Germline"	""	"rs372635387"	"0"	""	""	"g.4903027C>T"	""	"VUS"	""
"0000658170"	"0"	"30"	"17"	"4799825"	"4799825"	"subst"	"1.21853E-5"	"01943"	"C17orf107_000014"	"g.4799825G>A"	""	""	""	"MINK1(NM_001321236.1):c.3441G>A (p.T1147=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.4896530G>A"	""	"likely benign"	""
"0000659729"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"01164"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	"ACMG grading: PVS1,PM2,PP1; Croxen et al. 1998. Ann N Y Acad Sci 13: 195; Croxen et al. 1999. Ann Neurol 46: 639; Natera-de Benito et al. 2016. Neuromuscul Dis 26: 789-95; Abicht et al. 1999. Neurology 53: 1564-9"	"Germline"	""	"rs763258280"	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000664366"	"0"	"90"	"17"	"4805977"	"4805977"	"dup"	"0"	"01164"	"CHRNE_000169"	"g.4805977dup"	""	"Ohno et al. 1998. Ann Neurol 44: 234"	""	""	""	"Germline"	""	"rs762368691"	"0"	""	""	"g.4902682dup"	""	"pathogenic"	""
"0000664367"	"0"	"90"	"17"	"4805519"	"4805519"	"subst"	"0"	"01164"	"CHRNE_000170"	"g.4805519C>A"	""	""	""	""	"ACMG grading: PVS1,PM2,PM3"	"Germline"	""	""	"0"	""	""	"g.4902224C>A"	""	"pathogenic"	"ACMG"
"0000664792"	"11"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00006"	"CHRNE_000013"	"g.4804468_4804474del"	""	"{PMID:Ohno 2003:14532324}"	""	"553del7"	""	"Germline"	""	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic (recessive)"	""
"0000664793"	"3"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00006"	"CHRNE_000013"	"g.4804468_4804474del"	""	"{PMID:Ohno 2003:14532324}"	""	"553del7"	""	"Germline"	"yes"	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic (recessive)"	""
"0000664794"	"3"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00006"	"CHRNE_000013"	"g.4804468_4804474del"	""	"{PMID:Ohno 2003:14532324}"	""	"553del7"	""	"Germline"	"yes"	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic (recessive)"	""
"0000664795"	"3"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00006"	"CHRNE_000013"	"g.4804468_4804474del"	""	"{PMID:Ohno 2003:14532324}"	""	"553del7"	""	"Germline"	"yes"	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic (recessive)"	""
"0000664796"	"11"	"90"	"17"	"4804468"	"4804474"	"del"	"0"	"00006"	"CHRNE_000013"	"g.4804468_4804474del"	""	"{PMID:Ohno 2003:14532324}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901173_4901179del"	""	"pathogenic (recessive)"	""
"0000664797"	"21"	"90"	"17"	"4802680"	"4802680"	"subst"	"0"	"00006"	"CHRNE_000116"	"g.4802680C>G"	""	"{PMID:Ohno 2003:14532324}"	""	"eIVS9-1G>C"	""	"Germline"	""	""	"0"	""	""	"g.4899385C>G"	""	"pathogenic (recessive)"	""
"0000664798"	"2"	"90"	"17"	"4805384"	"4805384"	"subst"	"0"	"00006"	"CHRNE_000171"	"g.4805384T>G"	""	"{PMID:Ohno 2003:14532324}"	""	"eIVS4-2A>C"	""	"Germline"	""	""	"0"	""	""	"g.4902089T>G"	""	"pathogenic (recessive)"	""
"0000686014"	"0"	"90"	"17"	"4802761"	"4802779"	"dup"	"0"	"03219"	"CHRNE_000172"	"g.4802761_4802779dup"	""	"no variant 2nd chromosome"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000692386"	"0"	"30"	"17"	"4802097"	"4802097"	"subst"	"0.00148597"	"02326"	"C17orf107_000015"	"g.4802097G>A"	""	""	""	"CHRNE(NM_000080.4):c.1416C>T (p.L472=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000692387"	"0"	"30"	"17"	"4806353"	"4806353"	"subst"	"0.000304658"	"02326"	"C17orf107_000012"	"g.4806353T>C"	""	""	""	"CHRNE(NM_000080.4):c.6A>G (p.A2=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000726480"	"0"	"50"	"17"	"4802087"	"4802087"	"del"	"0"	"02329"	"CHRNE_000063"	"g.4802087del"	""	""	""	"CHRNE(NM_000080.3):c.1429del (p.(Ala477Profs*30)), CHRNE(NM_000080.4):c.1429delG (p.A477Pfs*30)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000726481"	"0"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"02329"	"CHRNE_000018"	"g.4802187del"	""	""	""	"CHRNE(NM_000080.4):c.1327delG (p.E443Kfs*64)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000726482"	"0"	"70"	"17"	"4802680"	"4802680"	"subst"	"0"	"02329"	"CHRNE_000116"	"g.4802680C>G"	""	""	""	"CHRNE(NM_000080.4):c.1033-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000786793"	"3"	"90"	"17"	"4805918"	"4805922"	"dup"	"0"	"00006"	"CHRNE_000010"	"g.4805918_4805922dup"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902623_4902627dup"	""	"pathogenic"	""
"0000786794"	"3"	"90"	"17"	"4805918"	"4805922"	"dup"	"0"	"00006"	"CHRNE_000010"	"g.4805918_4805922dup"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4902623_4902627dup"	""	"pathogenic"	""
"0000786795"	"3"	"90"	"17"	"4804288"	"4804288"	"subst"	"0"	"00006"	"CHRNE_000177"	"g.4804288G>A"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900993G>A"	""	"pathogenic"	""
"0000786796"	"3"	"70"	"17"	"4804124"	"4804133"	"dup"	"0"	"00006"	"CHRNE_000176"	"g.4804124_4804133dup"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900829_4900838dup"	""	"likely pathogenic"	""
"0000786797"	"3"	"70"	"17"	"4802479"	"4802501"	"del"	"0"	"00006"	"CHRNE_000174"	"g.4802479_4802501del"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899184_4899206del"	""	"likely pathogenic"	""
"0000786798"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000786799"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000786800"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"00006"	"CHRNE_000018"	"g.4802187del"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	""
"0000786801"	"3"	"70"	"17"	"4802142"	"4802142"	"del"	"0"	"00006"	"CHRNE_000173"	"g.4802142del"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898847del"	""	"likely pathogenic"	""
"0000786802"	"3"	"70"	"17"	"4802142"	"4802142"	"del"	"0"	"00006"	"CHRNE_000173"	"g.4802142del"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898847del"	""	"likely pathogenic"	""
"0000787236"	"0"	"50"	"17"	"4804112"	"4804112"	"subst"	"0"	"00006"	"CHRNE_000175"	"g.4804112G>C"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900817G>C"	""	"VUS"	""
"0000833072"	"1"	"70"	"17"	"4804140"	"4804140"	"subst"	"0"	"00006"	"CHRNE_000004"	"g.4804140G>A"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4900845G>A"	""	"likely pathogenic"	""
"0000833112"	"1"	"70"	"17"	"4805239"	"4805239"	"subst"	"0.000273581"	"00006"	"CHRNE_000007"	"g.4805239G>A"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4901944G>A"	""	"likely pathogenic"	""
"0000833162"	"1"	"70"	"17"	"4802635"	"4802654"	"del"	"0"	"00006"	"CHRNE_000178"	"g.4802635_4802654del"	""	"{PMID:Gonzalez-Quereda 2020:32403337}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.4899340_4899359del"	""	"likely pathogenic"	""
"0000844680"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844685"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844686"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844691"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844692"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844714"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844715"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844718"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844723"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844724"	"3"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"04292"	"CHRNE_000018"	"g.4802187del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.4898892del"	""	"pathogenic"	"ACMG"
"0000844727"	"3"	"90"	"17"	"4802295"	"4802295"	"subst"	"0"	"04292"	"CHRNE_000117"	"g.4802295C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000844728"	"3"	"90"	"17"	"4802295"	"4802295"	"subst"	"0"	"04292"	"CHRNE_000117"	"g.4802295C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000854979"	"0"	"90"	"17"	"4804366"	"4804366"	"subst"	"0"	"02327"	"CHRNE_000002"	"g.4804366G>A"	""	""	""	"CHRNE(NM_000080.3):c.721C>T (p.(Leu241Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000865339"	"0"	"50"	"17"	"4800518"	"4800518"	"subst"	"4.0864E-6"	"01943"	"C17orf107_000016"	"g.4800518G>A"	""	""	""	"MINK1(NM_001321236.1):c.3659G>A (p.R1220H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865340"	"0"	"90"	"17"	"4802087"	"4802087"	"del"	"0"	"01804"	"CHRNE_000063"	"g.4802087del"	""	""	""	"CHRNE(NM_000080.3):c.1429del (p.(Ala477Profs*30)), CHRNE(NM_000080.4):c.1429delG (p.A477Pfs*30)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000865341"	"0"	"90"	"17"	"4802187"	"4802187"	"del"	"0"	"01943"	"CHRNE_000018"	"g.4802187del"	""	""	""	"CHRNE(NM_000080.4):c.1327delG (p.E443Kfs*64)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000865342"	"0"	"50"	"17"	"4802543"	"4802543"	"subst"	"0.000120013"	"02329"	"C17orf107_000017"	"g.4802543C>G"	""	""	""	"CHRNE(NM_000080.4):c.1169G>C (p.R390P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000865343"	"0"	"50"	"17"	"4804109"	"4804109"	"subst"	"0.000106648"	"01804"	"C17orf107_000018"	"g.4804109A>G"	""	""	""	"CHRNE(NM_000080.3):c.896T>C (p.(Leu299Pro)), CHRNE(NM_000080.4):c.896T>C (p.L299P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000871936"	"0"	"90"	"17"	"4804366"	"4804366"	"subst"	"0"	"00006"	"CHRNE_000002"	"g.4804366G>A"	""	"{PMID:Boon 2022:35466948}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000893995"	"0"	"50"	"17"	"4804109"	"4804109"	"subst"	"0.000106648"	"02329"	"C17orf107_000018"	"g.4804109A>G"	""	""	""	"CHRNE(NM_000080.3):c.896T>C (p.(Leu299Pro)), CHRNE(NM_000080.4):c.896T>C (p.L299P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893996"	"0"	"90"	"17"	"4804366"	"4804366"	"subst"	"0"	"01804"	"CHRNE_000002"	"g.4804366G>A"	""	""	""	"CHRNE(NM_000080.3):c.721C>T (p.(Leu241Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000893997"	"0"	"50"	"17"	"4804840"	"4804840"	"subst"	"0.000269074"	"02325"	"C17orf107_000001"	"g.4804840A>G"	""	""	""	"CHRNE(NM_000080.4):c.581T>C (p.I194T, p.(Ile194Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000893998"	"0"	"30"	"17"	"4806314"	"4806314"	"subst"	"0.00731454"	"01804"	"CHRNE_000164"	"g.4806314G>A"	""	""	""	"CHRNE(NM_000080.3):c.45C>T (p.(Leu15=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000914875"	"0"	"70"	"17"	"4804818"	"4804818"	"subst"	"0"	"02327"	"C17orf107_000019"	"g.4804818A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000930806"	"0"	"30"	"17"	"4805494"	"4805494"	"subst"	"0.0017059"	"02326"	"CHRNE_000132"	"g.4805494G>A"	""	""	""	"CHRNE(NM_000080.4):c.344+18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000945982"	"0"	"90"	"17"	"4804155"	"4804155"	"subst"	"0"	"00006"	"C17orf107_000004"	"g.4804155T>G"	""	"{PMID:Westra 2019:31127727}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.4900860T>G"	""	"pathogenic (dominant)"	""
"0000982588"	"0"	"30"	"17"	"4794413"	"4794413"	"subst"	"0"	"01804"	"CHRNE_000179"	"g.4794413G>A"	""	""	""	"MINK1(NM_153827.5):c.1734G>A (p.(Pro578=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000982589"	"0"	"50"	"17"	"4798459"	"4798459"	"subst"	"0"	"01804"	"C17orf107_000021"	"g.4798459C>T"	""	""	""	"MINK1(NM_153827.5):c.3007C>T (p.(Arg1003Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982590"	"0"	"50"	"17"	"4802050"	"4802050"	"subst"	"0"	"01804"	"C17orf107_000022"	"g.4802050G>A"	""	""	""	"CHRNE(NM_000080.4):c.1463C>T (p.(Ala488Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982591"	"0"	"50"	"17"	"4802340"	"4802340"	"subst"	"0.000170982"	"01804"	"C17orf107_000023"	"g.4802340T>A"	""	""	""	"CHRNE(NM_000080.4):c.1282A>T (p.(Asn428Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982592"	"0"	"50"	"17"	"4802532"	"4802532"	"subst"	"0"	"01804"	"C17orf107_000024"	"g.4802532C>T"	""	""	""	"CHRNE(NM_000080.4):c.1180G>A (p.(Val394Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000982593"	"0"	"50"	"17"	"4804912"	"4804912"	"subst"	"0"	"01804"	"C17orf107_000025"	"g.4804912G>T"	""	""	""	"CHRNE(NM_000080.4):c.509C>A (p.(Thr170Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000989372"	"0"	"50"	"17"	"4802331"	"4802331"	"subst"	"4.19777E-6"	"03779"	"CHRNE_000180"	"g.4802331C>A"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs121909517"	"0"	""	""	""	""	"VUS"	""
"0001003370"	"0"	"50"	"17"	"4805239"	"4805239"	"subst"	"0.000273581"	"01804"	"CHRNE_000007"	"g.4805239G>A"	""	""	""	"CHRNE(NM_000080.3):c.488C>T (p.(Ser163Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001003371"	"0"	"90"	"17"	"4806002"	"4806002"	"subst"	"0.000625523"	"01804"	"CHRNE_000037"	"g.4806002A>G"	""	""	""	"CHRNE(NM_000080.3):c.103T>C (p.(Tyr35His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001026958"	"0"	"50"	"17"	"4802641"	"4802643"	"dup"	"0"	"02325"	"C17orf107_000026"	"g.4802641_4802643dup"	""	""	""	"CHRNE(NM_000080.4):c.1077_1079dupGCC (p.P360dup)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041943"	"0"	"30"	"17"	"4802067"	"4802067"	"subst"	"8.00715E-5"	"01804"	"C17orf107_000027"	"g.4802067C>T"	""	""	""	"CHRNE(NM_000080.4):c.1446G>A (p.(Val482=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001041944"	"0"	"10"	"17"	"4802111"	"4802111"	"subst"	"0.00752069"	"01804"	"CHRNE_000153"	"g.4802111C>G"	""	""	""	"CHRNE(NM_000080.4):c.1402G>C (p.(Val468Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001041945"	"0"	"50"	"17"	"4802649"	"4802649"	"subst"	"0"	"01804"	"C17orf107_000028"	"g.4802649C>G"	""	""	""	"CHRNE(NM_000080.4):c.1063G>C (p.(Gly355Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041946"	"0"	"10"	"17"	"4802829"	"4802829"	"subst"	"0.0174332"	"01804"	"C17orf107_000029"	"g.4802829G>A"	""	""	""	"CHRNE(NM_000080.4):c.966C>T (p.(Cys322=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001041947"	"0"	"50"	"17"	"4804416"	"4804416"	"subst"	"8.61178E-5"	"01804"	"C17orf107_000030"	"g.4804416C>T"	""	""	""	"CHRNE(NM_000080.4):c.671G>A (p.(Gly224Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041948"	"0"	"50"	"17"	"4804840"	"4804840"	"subst"	"0.000269074"	"01804"	"C17orf107_000001"	"g.4804840A>G"	""	""	""	"CHRNE(NM_000080.4):c.581T>C (p.I194T, p.(Ile194Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001041949"	"0"	"70"	"17"	"4806322"	"4806322"	"subst"	"2.84301E-5"	"01804"	"CHRNE_000005"	"g.4806322C>T"	""	""	""	"CHRNE(NM_000080.4):c.37G>A (p.(Gly13Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001046948"	"0"	"70"	"17"	"4802087"	"4802087"	"del"	"0"	"03779"	"CHRNE_000063"	"g.4802087del"	""	""	""	""	""	"Unknown"	""	"rs1396286715"	"0"	""	""	""	""	"likely pathogenic"	""
"0001055782"	"0"	"90"	"17"	"4802803"	"4802803"	"subst"	"0"	"01804"	"CHRNE_000040"	"g.4802803C>T"	""	""	""	"CHRNE(NM_000080.4):c.992G>A (p.(Arg331Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001055783"	"0"	"10"	"17"	"4804902"	"4804902"	"subst"	"0.0372711"	"01804"	"CHRNE_000167"	"g.4804902G>A"	""	""	""	"CHRNE(NM_000080.4):c.519C>T (p.(Ala173=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001055784"	"0"	"30"	"17"	"4805174"	"4805174"	"subst"	"0"	"01804"	"C17orf107_000031"	"g.4805174A>C"	""	""	""	"CHRNE(NM_000080.4):c.500+53T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055785"	"0"	"50"	"17"	"4805392"	"4805392"	"subst"	"0"	"01804"	"C17orf107_000032"	"g.4805392C>A"	""	""	""	"CHRNE(NM_000080.4):c.345-10G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055786"	"0"	"90"	"17"	"4805606"	"4805606"	"subst"	"4.06072E-6"	"01804"	"CHRNE_000011"	"g.4805606G>A"	""	""	""	"CHRNE(NM_000080.4):c.250C>T (p.(Arg84*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001055787"	"0"	"50"	"17"	"4805777"	"4805777"	"subst"	"8.1211E-6"	"01804"	"C17orf107_000033"	"g.4805777C>T"	""	""	""	"CHRNE(NM_000080.4):c.202G>A (p.(Glu68Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001066598"	"0"	"50"	"17"	"4802544"	"4802544"	"subst"	"7.72029E-5"	"01804"	"C17orf107_000034"	"g.4802544G>A"	""	""	""	"CHRNE(NM_000080.4):c.1168C>T (p.(Arg390Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001066599"	"0"	"50"	"17"	"4806069"	"4806069"	"dup"	"0"	"01804"	"C17orf107_000035"	"g.4806069dup"	""	""	""	"CHRNE(NM_000080.4):c.47-8dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes CHRNE
## Count = 497
"{{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}}"
"0000062417"	"00005154"	"50"	"500"	"47"	"500"	"48"	"c.500+47_500+48dup"	"r.(=)"	"p.(=)"	""
"0000062418"	"00005154"	"50"	"344"	"18"	"344"	"18"	"c.344+18C>T"	"r.(=)"	"p.(=)"	""
"0000062419"	"00005154"	"10"	"2353"	"0"	"2353"	"0"	"c.*871G>T"	"r.(=)"	"p.(=)"	""
"0000062420"	"00005154"	"90"	"1336"	"0"	"1336"	"0"	"c.1336del"	"r.(?)"	"p.(Asp446Thrfs*61)"	""
"0000062421"	"00005154"	"50"	"905"	"0"	"905"	"0"	"c.905C>G"	"r.(?)"	"p.(Pro302Arg)"	""
"0000062422"	"00005154"	"50"	"70"	"0"	"70"	"0"	"c.70G>A"	"r.(?)"	"p.(Glu24Lys)"	""
"0000062423"	"00005154"	"10"	"1519"	"0"	"1519"	"0"	"c.*37G>A"	"r.(=)"	"p.(=)"	""
"0000062424"	"00005154"	"90"	"1033"	"-1"	"1033"	"-1"	"c.1033-1G>C"	"r.spl?"	"p.(=)"	""
"0000062425"	"00005154"	"90"	"-94"	"0"	"-94"	"0"	"c.-94G>A"	"r.(=)"	"p.(=)"	""
"0000062426"	"00005154"	"90"	"209"	"0"	"210"	"0"	"c.209_210del"	"r.(?)"	"p.(Leu70Hisfs*3)"	""
"0000062427"	"00005154"	"90"	"1291"	"0"	"1291"	"0"	"c.1291G>C"	"r.(?)"	"p.(Ala431Pro)"	""
"0000062428"	"00005154"	"90"	"1441"	"0"	"1441"	"0"	"c.1441C>T"	"r.(?)"	"p.(Arg481*)"	""
"0000062429"	"00005154"	"50"	"16"	"0"	"16"	"0"	"c.16C>G"	"r.(?)"	"p.(Leu6Val)"	""
"0000062430"	"00005154"	"50"	"500"	"47"	"500"	"48"	"c.500+47_500+48dup"	"r.(=)"	"p.(=)"	""
"0000062431"	"00005154"	"10"	"1219"	"17"	"1219"	"22"	"c.1219+17_1219+22del"	"r.(=)"	"p.(=)"	""
"0000062432"	"00005154"	"90"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477Profs*30)"	""
"0000194493"	"00005154"	"70"	"1373"	"0"	"1375"	"0"	"c.1373_1375del"	"r.(?)"	"p.(Cys458del)"	"12"
"0000255956"	"00005154"	"50"	"1420"	"0"	"1420"	"0"	"c.1420T>G"	"r.(?)"	"p.(Phe474Val)"	""
"0000256019"	"00005154"	"50"	"581"	"0"	"581"	"0"	"c.581T>C"	"r.(?)"	"p.(Ile194Thr)"	""
"0000325133"	"00005154"	"70"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(?)"	"p.(Asn452GlufsTer4)"	""
"0000338246"	"00005154"	"10"	"1547"	"0"	"1547"	"0"	"c.*65C>T"	"r.(=)"	"p.(=)"	""
"0000338247"	"00005154"	"10"	"1543"	"0"	"1543"	"0"	"c.*61C>T"	"r.(=)"	"p.(=)"	""
"0000338248"	"00005154"	"10"	"1525"	"0"	"1525"	"0"	"c.*43T>C"	"r.(=)"	"p.(=)"	""
"0000338249"	"00005154"	"10"	"1519"	"0"	"1519"	"0"	"c.*37G>A"	"r.(=)"	"p.(=)"	""
"0000338250"	"00005154"	"10"	"1488"	"0"	"1488"	"0"	"c.*6A>G"	"r.(=)"	"p.(=)"	""
"0000338252"	"00005154"	"10"	"1033"	"-6"	"1033"	"-6"	"c.1033-6C>T"	"r.(=)"	"p.(=)"	""
"0000338253"	"00005154"	"50"	"918"	"-14"	"918"	"-14"	"c.918-14T>C"	"r.(=)"	"p.(=)"	""
"0000338269"	"00005154"	"10"	"917"	"15"	"917"	"15"	"c.917+15C>G"	"r.(=)"	"p.(=)"	""
"0000338270"	"00005154"	"10"	"345"	"-7"	"345"	"-7"	"c.345-7C>T"	"r.(=)"	"p.(=)"	""
"0000340167"	"00005154"	"10"	"1305"	"0"	"1305"	"0"	"c.1305A>G"	"r.(?)"	"p.(Arg435=)"	""
"0000340168"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(Ala431=)"	""
"0000340836"	"00005154"	"10"	"45"	"0"	"45"	"0"	"c.45C>T"	"r.(?)"	"p.(Leu15=)"	""
"0000341465"	"00005154"	"90"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477ProfsTer30)"	""
"0000343762"	"00005154"	"90"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(?)"	"p.(Asn452GlufsTer4)"	""
"0000345396"	"00005154"	"90"	"1181"	"0"	"1187"	"0"	"c.1181_1187dup"	"r.(?)"	"p.(Glu396AspfsTer3)"	""
"0000345820"	"00005154"	"10"	"53"	"0"	"53"	"0"	"c.53G>T"	"r.(?)"	"p.(Gly18Val)"	""
"0000348964"	"00005154"	"90"	"1100"	"0"	"1100"	"0"	"c.1100C>A"	"r.(?)"	"p.(Ser367Ter)"	""
"0000349413"	"00005154"	"90"	"850"	"0"	"850"	"0"	"c.850A>C"	"r.(?)"	"p.(Thr284Pro)"	""
"0000350558"	"00005154"	"30"	"1402"	"0"	"1402"	"0"	"c.1402G>C"	"r.(?)"	"p.(Val468Leu)"	""
"0000350650"	"00005154"	"50"	"221"	"0"	"221"	"0"	"c.221T>G"	"r.(?)"	"p.(Val74Gly)"	""
"0000352755"	"00005154"	"90"	"865"	"0"	"865"	"0"	"c.865C>T"	"r.(?)"	"p.Leu289Phe"	"8"
"0000352756"	"00005154"	"90"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.Gly13Arg"	"1"
"0000352757"	"00005154"	"90"	"422"	"0"	"422"	"0"	"c.422C>T"	"r.(?)"	"p.Pro141Leu"	"5"
"0000352758"	"00005154"	"90"	"488"	"0"	"488"	"0"	"c.488C>T"	"r.(?)"	"p.Ser163Leu"	"5"
"0000352759"	"00005154"	"90"	"-94"	"0"	"-94"	"0"	"c.-94G>A"	"r.(?)"	"p.(=)"	"1"
"0000353242"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353243"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353244"	"00005154"	"10"	"53"	"0"	"53"	"0"	"c.53G>T"	"r.53g>u"	"p.Gly18Val"	"2"
"0000353245"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353246"	"00005154"	"10"	"917"	"15"	"917"	"15"	"c.917+15C>G"	"r.(?)"	"p.(=)"	"8i"
"0000353247"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.1293c>u"	"p.="	"11"
"0000353248"	"00005154"	"10"	"917"	"15"	"917"	"15"	"c.917+15C>G"	"r.="	"p.="	"8i"
"0000353249"	"00005154"	"10"	"1033"	"-6"	"1033"	"-6"	"c.1033-6C>T"	"r.="	"p.="	"9i"
"0000353250"	"00005154"	"90"	"865"	"0"	"865"	"0"	"c.865C>T"	"r.865c>u"	"p.Leu289Phe"	"8"
"0000353251"	"00005154"	"90"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Gly13Arg)"	"1"
"0000353252"	"00005154"	"90"	"422"	"0"	"422"	"0"	"c.422C>T"	"r.(?)"	"p.(Pro141Leu)"	"5"
"0000353253"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353254"	"00005154"	"10"	"53"	"0"	"53"	"0"	"c.53G>T"	"r.(?)"	"p.(Gly18Val)"	"2"
"0000353255"	"00005154"	"10"	"917"	"15"	"917"	"15"	"c.917+15C>G"	"r.(?)"	"p.(=)"	"8i"
"0000353256"	"00005154"	"10"	"1033"	"-6"	"1033"	"-6"	"c.1033-6C>T"	"r.(?)"	"p.(=)"	"9i"
"0000353257"	"00005154"	"90"	"183"	"0"	"187"	"0"	"c.183_187dup"	"r.183_187dup"	"p.Leu63Profs*3"	"2"
"0000353258"	"00005154"	"90"	"794"	"0"	"794"	"0"	"c.794C>T"	"r.(?)"	"p.(Pro265Leu)"	"7"
"0000353259"	"00005154"	"90"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Arg84*)"	"4"
"0000353260"	"00005154"	"90"	"500"	"0"	"500"	"0"	"c.500G>T"	"r.500g>u"	"p.Arg167Leu"	"5"
"0000353261"	"00005154"	"90"	"-95"	"0"	"-95"	"0"	"c.-95G>A"	"r.(?)"	"p.(=)"	"1"
"0000353262"	"00005154"	"90"	"-95"	"0"	"-95"	"0"	"c.-95G>A"	"r.(?)"	"p.(=)"	"1"
"0000353263"	"00005154"	"90"	"-95"	"0"	"-95"	"0"	"c.-95G>A"	"r.(?)"	"p.(=)"	"1"
"0000353264"	"00005154"	"90"	"-95"	"0"	"-95"	"0"	"c.-95G>A"	"r.(?)"	"p.(=)"	"1"
"0000353265"	"00005154"	"90"	"-95"	"0"	"-95"	"0"	"c.-95G>A"	"r.(?)"	"p.(=)"	"1"
"0000353266"	"00005154"	"10"	"1326"	"10"	"1326"	"29"	"c.(1326+10_1326+29del)"	"r.(?)"	"p.(=)"	"11i"
"0000353267"	"00005154"	"10"	"1326"	"33"	"1326"	"33"	"c.1326+33G>C"	"r.(?)"	"p.(=)"	"11i"
"0000353271"	"00005154"	"90"	"850"	"0"	"850"	"0"	"c.850A>C"	"r.(?)"	"p.(Thr284Pro)"	"8"
"0000353272"	"00005154"	"90"	"865"	"0"	"865"	"0"	"c.865C>T"	"r.(?)"	"p.(Leu289Phe)"	"8"
"0000353273"	"00005154"	"90"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Gly13Arg)"	"1"
"0000353274"	"00005154"	"90"	"422"	"0"	"422"	"0"	"c.422C>T"	"r.(?)"	"p.(Pro141Leu)"	"5"
"0000353275"	"00005154"	"90"	"488"	"0"	"488"	"0"	"c.488C>T"	"r.(?)"	"p.(Ser163Leu)"	"5"
"0000353276"	"00005154"	"10"	"-60"	"0"	"-60"	"0"	"c.-60C>T"	"r.(?)"	"p.(=)"	"1"
"0000353277"	"00005154"	"10"	"1305"	"0"	"1305"	"0"	"c.1305A>G"	"r.(?)"	"p.(=)"	"11"
"0000353278"	"00005154"	"90"	"1161"	"0"	"1162"	"0"	"c.1161_1162insT"	"r.(?)"	"p.(Lys388*)"	"10"
"0000353279"	"00005154"	"90"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(?)"	"p.(Asn452Glufs*4)"	"12"
"0000353280"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.(?)"	"p.(Trp205Serfs*7)"	"7"
"0000353281"	"00005154"	"90"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(?)"	"p.(Arg331Trp)"	"9"
"0000353282"	"00005154"	"90"	"1297"	"0"	"1314"	"0"	"c.1297_1314dup"	"r.(?)"	"p.(Ser433_Glu438dup)"	"11"
"0000353283"	"00005154"	"90"	"442"	"0"	"442"	"0"	"c.442T>A"	"r.(?)"	"p.(Cys148Ser)"	"5"
"0000353284"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353285"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353286"	"00005154"	"90"	"115"	"0"	"119"	"0"	"c.115_119dup"	"r.(?)"	"p.(Pro41Alafs*19)"	"2"
"0000353287"	"00005154"	"90"	"115"	"0"	"119"	"0"	"c.115_119dup"	"r.(?)"	"p.(Pro41Alafs*19)"	"2"
"0000353288"	"00005154"	"90"	"1248"	"0"	"1266"	"0"	"c.1248_1266dup"	"r.(?)"	"p.(Cys423Argfs*39)"	"11"
"0000353289"	"00005154"	"90"	"1248"	"0"	"1266"	"0"	"c.1248_1266dup"	"r.(?)"	"p.(Cys423Argfs*39)"	"11"
"0000353290"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353291"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353292"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.(?)"	"p.(Asp446Thrfs*61)"	"12"
"0000353293"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.(?)"	"p.(Asp446Thrfs*61)"	"12"
"0000353294"	"00005154"	"90"	"686"	"0"	"687"	"0"	"c.686_687dup"	"r.(?)"	"p.(?)"	"7"
"0000353295"	"00005154"	"90"	"211"	"0"	"211"	"0"	"c.211A>C"	"r.(?)"	"p.(Thr71Pro)"	"3"
"0000353296"	"00005154"	"90"	"211"	"0"	"211"	"0"	"c.211A>C"	"r.(?)"	"p.(Thr71Pro)"	"3"
"0000353297"	"00005154"	"90"	"23"	"0"	"23"	"0"	"c.23T>A"	"r.(?)"	"p.(Val8Asp)"	"1"
"0000353298"	"00005154"	"90"	"23"	"0"	"23"	"0"	"c.23T>A"	"r.(?)"	"p.(Val8Asp)"	"1"
"0000353299"	"00005154"	"90"	"783"	"0"	"783"	"0"	"c.783del"	"r.(?)"	"p.(Tyr262Thrfs*38)"	"7"
"0000353300"	"00005154"	"90"	"783"	"0"	"783"	"0"	"c.783del"	"r.(?)"	"p.(Tyr262Thrfs*38)"	"7"
"0000353301"	"00005154"	"90"	"813"	"0"	"820"	"0"	"c.813_820dup"	"r.(?)"	"p.(Thr274Argfs*29)"	"8"
"0000353302"	"00005154"	"90"	"813"	"0"	"820"	"0"	"c.813_820dup"	"r.(?)"	"p.(Thr274Argfs*29)"	"8"
"0000353303"	"00005154"	"90"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(?)"	"p.(Asn452Glufs*4)"	"12"
"0000353304"	"00005154"	"90"	"1291"	"0"	"1291"	"0"	"c.1291G>C"	"r.(?)"	"p.(Ala431Pro)"	"11"
"0000353305"	"00005154"	"90"	"1291"	"0"	"1291"	"0"	"c.1291G>C"	"r.(?)"	"p.(Ala431Pro)"	"11"
"0000353306"	"00005154"	"90"	"535"	"0"	"535"	"0"	"c.535A>C"	"r.(?)"	"p.(Thr179Pro)"	"6"
"0000353307"	"00005154"	"90"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Arg84*)"	"4"
"0000353308"	"00005154"	"90"	"1090"	"0"	"1090"	"0"	"c.1090del"	"r.(?)"	"p.(Arg364Glyfs*21)"	"10"
"0000353309"	"00005154"	"90"	"971"	"0"	"971"	"0"	"c.971del"	"r.(?)"	"p.(Ile324Thrfs*61)"	"9"
"0000353310"	"00005154"	"90"	"344"	"1"	"344"	"1"	"c.344+1G>A"	"r.(?)"	"p.(=)"	"4i"
"0000353311"	"00005154"	"90"	"1052"	"0"	"1052"	"0"	"c.1052C>T"	"r.(1052c>u)"	"p.(Pro351Leu)"	"10"
"0000353312"	"00005154"	"90"	"1052"	"0"	"1052"	"0"	"c.1052C>T"	"r.(1052c>u)"	"p.(Pro351Leu)"	"10"
"0000353313"	"00005154"	"90"	"1250"	"0"	"1268"	"0"	"c.1250_1268dup"	"r.(1250_1268dup)"	"p.(Val424Profs*38)"	"11"
"0000353314"	"00005154"	"90"	"1250"	"0"	"1268"	"0"	"c.1250_1268dup"	"r.(1250_1268dup)"	"p.(Val424Profs*38)"	"11"
"0000353315"	"00005154"	"50"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353316"	"00005154"	"90"	"105"	"0"	"105"	"0"	"c.105T>A"	"r.(?)"	"p.(Tyr35*)"	"2"
"0000353317"	"00005154"	"90"	"293"	"0"	"293"	"0"	"c.293T>C"	"r.(?)"	"p.(Leu98Pro)"	"4"
"0000353318"	"00005154"	"90"	"293"	"0"	"293"	"0"	"c.293T>C"	"r.(?)"	"p.(Leu98Pro)"	"4"
"0000353319"	"00005154"	"90"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Leu241Phe)"	"7"
"0000353320"	"00005154"	"90"	"583"	"0"	"583"	"0"	"c.583G>A"	"r.(?)"	"p.(Asp195Asn)"	"6"
"0000353321"	"00005154"	"90"	"604"	"0"	"604"	"0"	"c.604A>T"	"r.(?)"	"p.(Asn202Tyr)"	"7"
"0000353322"	"00005154"	"90"	"103"	"0"	"103"	"0"	"c.103T>C"	"r.(?)"	"p.(Tyr35His)"	"2"
"0000353323"	"00005154"	"90"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477Profs*30)"	"12"
"0000353324"	"00005154"	"90"	"1434"	"0"	"1434"	"0"	"c.1434C>A"	"r.(?)"	"p.(Tyr478*)"	"12"
"0000353325"	"00005154"	"90"	"569"	"0"	"569"	"0"	"c.569dup"	"r.(?)"	"p.(Asn190Lysfs*12)"	"6"
"0000353326"	"00005154"	"70"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477Profs*30)"	"12"
"0000353327"	"00005154"	"90"	"992"	"0"	"992"	"0"	"c.992G>A"	"r.(?)"	"p.(Arg331Gln)"	"9"
"0000353328"	"00005154"	"90"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477Profs*30)"	"12"
"0000353329"	"00005154"	"90"	"1204"	"0"	"1204"	"0"	"c.1204C>T"	"r.(?)"	"p.(Gln402*)"	"10"
"0000353330"	"00005154"	"90"	"1062"	"0"	"1081"	"0"	"c.1062_1081dup"	"r.(?)"	"p.(Glu361Glyfs*31)"	"10"
"0000353331"	"00005154"	"90"	"1158"	"0"	"1158"	"0"	"c.1158dup"	"r.(?)"	"p.(Lys387Glufs*10)"	"10"
"0000353332"	"00005154"	"90"	"530"	"0"	"532"	"0"	"c.530_532del"	"r.[501_601del,530_532del]"	"p.[Ser168Glufs*28,Glu177_Phe178delinsVal]"	"6"
"0000353333"	"00005154"	"90"	"1096"	"0"	"1105"	"0"	"c.1096_1105dup"	"r.(?)"	"p.(?)"	"10"
"0000353334"	"00005154"	"90"	"601"	"1"	"601"	"1"	"c.601+1del"	"r.spl"	"p.?"	"6i"
"0000353335"	"00005154"	"90"	"713"	"0"	"713"	"0"	"c.713G>T"	"r.(?)"	"p.(Arg238Leu)"	"7"
"0000353336"	"00005154"	"90"	"892"	"0"	"894"	"0"	"c.892_894del"	"r.(?)"	"p.(Ser298del)"	"8"
"0000353337"	"00005154"	"90"	"934"	"0"	"936"	"0"	"c.934_936del"	"r.(?)"	"p.(Met312del)"	"8"
"0000353338"	"00005154"	"90"	"571"	"0"	"571"	"0"	"c.571A>T"	"r.(?)"	"p.(Lys191*)"	"6"
"0000353339"	"00005154"	"90"	"571"	"0"	"571"	"0"	"c.571A>T"	"r.(?)"	"p.(Lys191*)"	"6"
"0000353340"	"00005154"	"90"	"1220"	"-8"	"1227"	"0"	"c.1220-8_1227dup"	"r.(?)"	"p.(?)"	"11"
"0000353341"	"00005154"	"90"	"835"	"0"	"835"	"0"	"c.835G>T"	"r.(?)"	"p.(Val279Phe)"	"8"
"0000353342"	"00005154"	"90"	"835"	"0"	"835"	"0"	"c.835G>C"	"r.(?)"	"p.(Val279Leu)"	"8"
"0000353343"	"00005154"	"90"	"1072"	"0"	"1091"	"0"	"c.1072_1091del"	"r.(?)"	"p.(?)"	"10"
"0000353344"	"00005154"	"90"	"1090"	"0"	"1090"	"0"	"c.1090dup"	"r.(?)"	"p.(?)"	"10"
"0000353345"	"00005154"	"90"	"1093"	"0"	"1094"	"0"	"c.1093_1094insT"	"r.(?)"	"p.(?)"	"10"
"0000353346"	"00005154"	"90"	"1093"	"0"	"1093"	"0"	"c.1093del"	"r.(?)"	"p.(?)"	"10"
"0000353347"	"00005154"	"90"	"118"	"0"	"118"	"0"	"c.118C>T"	"r.(?)"	"p.(Arg40Trp)"	"2"
"0000353348"	"00005154"	"90"	"1192"	"0"	"1192"	"0"	"c.1192C>T"	"r.(?)"	"p.(Gln398*)"	"10"
"0000353349"	"00005154"	"90"	"1258"	"0"	"1258"	"0"	"c.1258del"	"r.(?)"	"p.(Val420Serfs*8)"	"11"
"0000353350"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(?)"	"2"
"0000353351"	"00005154"	"90"	"1367"	"0"	"1369"	"0"	"c.1367_1369del"	"r.(?)"	"p.(Asn456del)"	"12"
"0000353352"	"00005154"	"90"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477Profs*30)"	"12"
"0000353353"	"00005154"	"90"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477Profs*30)"	"12"
"0000353354"	"00005154"	"90"	"421"	"0"	"421"	"0"	"c.421C>A"	"r.(?)"	"p.(Pro141Thr)"	"5"
"0000353355"	"00005154"	"90"	"452"	"0"	"454"	"0"	"c.452_454del"	"r.(?)"	"p.(Glu151del)"	"5"
"0000353356"	"00005154"	"90"	"520"	"0"	"520"	"0"	"c.520G>T"	"r.[520g>u,501_547del]"	"p.[Glu174*,Ser169Glnfs*18]"	"6"
"0000353357"	"00005154"	"90"	"712"	"0"	"712"	"0"	"c.712C>T"	"r.(?)"	"p.(Arg238Trp)"	"7"
"0000353358"	"00005154"	"90"	"794"	"0"	"794"	"0"	"c.794del"	"r.(?)"	"p.(Pro265Argfs*35)"	"?"
"0000353359"	"00005154"	"90"	"854"	"0"	"854"	"0"	"c.854T>C"	"r.(?)"	"p.(Val285Ala)"	"8"
"0000353360"	"00005154"	"90"	"988"	"0"	"988"	"0"	"c.988C>T"	"r.(?)"	"p.(Gln330*)"	"9"
"0000353361"	"00005154"	"90"	"802"	"2"	"802"	"2"	"c.802+2T>C"	"r.spl?"	"p.?"	"7i"
"0000353362"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353363"	"00005154"	"90"	"-96"	"0"	"-96"	"0"	"c.-96C>T"	"r.(?)"	"p.(=)"	"1"
"0000353364"	"00005154"	"90"	"-96"	"0"	"-96"	"0"	"c.-96C>T"	"r.(?)"	"p.(=)"	"1"
"0000353365"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>G"	"r.spl"	"p.?"	"10i"
"0000353366"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>G"	"r.spl"	"p.?"	"10i"
"0000353367"	"00005154"	"90"	"1032"	"1"	"1032"	"1"	"c.1032+1G>T"	"r.918_1032del"	"p.Leu308Serfs*39"	"9i"
"0000353368"	"00005154"	"90"	"1032"	"1"	"1032"	"1"	"c.1032+1G>T"	"r.918_1032del"	"p.Leu308Serfs*39"	"9i"
"0000353369"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.[501_601del;614_620del,614_620del]"	"p.[Ser168_Ile207delinsGluArgArgVal,Trp205Serfs*7]"	"7"
"0000353371"	"00005154"	"90"	"501"	"-16"	"501"	"-16"	"c.501-16G>A"	"r.(?)"	"p.(=)"	"5i"
"0000353374"	"00005154"	"90"	"855"	"0"	"855"	"0"	"c.855C>T"	"r.(?)"	"p.(=)"	"8"
"0000353375"	"00005154"	"90"	"855"	"0"	"855"	"0"	"c.855C>T"	"r.(?)"	"p.(=)"	"8"
"0000353376"	"00005154"	"90"	"-96"	"0"	"-96"	"0"	"c.-96C>T"	"r.(?)"	"p.(=)"	"1"
"0000353377"	"00005154"	"90"	"-96"	"0"	"-96"	"0"	"c.-96C>T"	"r.(?)"	"p.(=)"	"1"
"0000353378"	"00005154"	"90"	"-96"	"0"	"-96"	"0"	"c.-96C>T"	"r.(?)"	"p.(=)"	"1"
"0000353379"	"00005154"	"90"	"422"	"0"	"422"	"0"	"c.422C>T"	"r.(?)"	"p.(Pro141Leu)"	"5"
"0000353380"	"00005154"	"10"	"53"	"0"	"53"	"0"	"c.53G>T"	"r.(?)"	"p.(Gly18Val)"	"2"
"0000353381"	"00005154"	"90"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(?)"	"p.(Asn452Glufs*4)"	"12"
"0000353382"	"00005154"	"90"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(?)"	"p.(Asn452Glufs*4)"	"12"
"0000353383"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353384"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353385"	"00005154"	"90"	"971"	"0"	"971"	"0"	"c.971del"	"r.(?)"	"p.(Ile324Thrfs*61)"	"9"
"0000353386"	"00005154"	"50"	"803"	"-6"	"803"	"-3"	"c.803-6_803-3del"	"r.spl?"	"p.?"	"7i"
"0000353387"	"00005154"	"50"	"1326"	"21"	"1326"	"40"	"c.1326+21_1326+40del"	"r.spl?"	"p.(?)"	"11i"
"0000353388"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353389"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353390"	"00005154"	"90"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Gly13Arg)"	"1"
"0000353391"	"00005154"	"90"	"422"	"0"	"422"	"0"	"c.422C>T"	"r.(?)"	"p.(Pro141Leu)"	"5"
"0000353392"	"00005154"	"90"	"488"	"0"	"488"	"0"	"c.488C>T"	"r.(?)"	"p.(Ser163Leu)"	"5"
"0000353393"	"00005154"	"10"	"-60"	"0"	"-60"	"0"	"c.-60C>T"	"r.(?)"	"p.(=)"	"1"
"0000353394"	"00005154"	"10"	"1305"	"0"	"1305"	"0"	"c.1305A>G"	"r.(?)"	"p.(=)"	"11"
"0000353395"	"00005154"	"90"	"422"	"0"	"422"	"0"	"c.422C>T"	"r.(?)"	"p.(Pro141Leu)"	"5"
"0000353396"	"00005154"	"90"	"488"	"0"	"488"	"0"	"c.488C>T"	"r.(?)"	"p.(Ser163Leu)"	"5"
"0000353397"	"00005154"	"10"	"2319"	"0"	"2319"	"0"	"c.*837A>G"	"r.(?)"	"p.(=)"	"12"
"0000353398"	"00005154"	"90"	"-94"	"0"	"-94"	"0"	"c.-94G>A"	"r.(?)"	"p.(=)"	"1"
"0000353399"	"00005154"	"90"	"-906"	"0"	"130"	"0"	"c.-906_130delinsCGCATCCAAGA"	"r.0?"	"p.0?"	"1_2"
"0000353400"	"00005154"	"10"	"2350"	"0"	"2350"	"0"	"c.*868G>T"	"r.(?)"	"p.(=)"	"12"
"0000353401"	"00005154"	"10"	"234"	"54"	"234"	"54"	"c.234+54C>A"	"r.(?)"	"p.(=)"	"3i"
"0000353402"	"00005154"	"90"	"-94"	"0"	"-94"	"0"	"c.-94G>A"	"r.(?)"	"p.(=)"	"1"
"0000353403"	"00005154"	"10"	"2350"	"0"	"2350"	"0"	"c.*868G>T"	"r.(?)"	"p.(=)"	"12"
"0000353404"	"00005154"	"10"	"234"	"54"	"234"	"54"	"c.234+54C>A"	"r.(?)"	"p.(=)"	"3i"
"0000353405"	"00005154"	"90"	"-906"	"0"	"130"	"0"	"c.-906_130delinsCGCATCCAAGA"	"r.?"	"p.?"	"1_2"
"0000353406"	"00005154"	"90"	"-94"	"0"	"-94"	"0"	"c.-94G>A"	"r.(?)"	"p.(=)"	"1"
"0000353407"	"00005154"	"90"	"-94"	"0"	"-94"	"0"	"c.-94G>A"	"r.(?)"	"p.(=)"	"1"
"0000353408"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353409"	"00005154"	"90"	"-95"	"0"	"-95"	"0"	"c.-95G>A"	"r.(?)"	"p.(=)"	"1"
"0000353410"	"00005154"	"90"	"1121"	"0"	"1121"	"0"	"c.1121C>A"	"r.(?)"	"p.(Ser374*)"	"10"
"0000353411"	"00005154"	"90"	"916"	"0"	"916"	"0"	"c.916A>T"	"r.(?)"	"p.(Arg306Trp)"	"8"
"0000353412"	"00005154"	"90"	"1192"	"0"	"1192"	"0"	"c.1192C>T"	"r.(?)"	"p.(Gln398*)"	"10"
"0000353413"	"00005154"	"90"	"1192"	"0"	"1192"	"0"	"c.1192C>T"	"r.(?)"	"p.(Gln398*)"	"10"
"0000353414"	"00005154"	"90"	"1252"	"0"	"1267"	"0"	"c.1252_1267dup"	"r.(?)"	"p.(Cys423Serfs*38)"	"11"
"0000353415"	"00005154"	"90"	"847"	"0"	"847"	"0"	"c.847C>T"	"r.(?)"	"p.(Gln283*)"	"8"
"0000353416"	"00005154"	"90"	"442"	"0"	"442"	"0"	"c.442T>A"	"r.(?)"	"p.(Cys148Ser)"	"5"
"0000353417"	"00005154"	"90"	"1258"	"0"	"1258"	"0"	"c.1258del"	"r.(?)"	"p.(Val420Serfs*8)"	"11"
"0000353418"	"00005154"	"90"	"1291"	"0"	"1291"	"0"	"c.1291G>C"	"r.(?)"	"p.(Ala431Pro)"	"11"
"0000353419"	"00005154"	"90"	"1291"	"0"	"1291"	"0"	"c.1291G>C"	"r.(?)"	"p.(Ala431Pro)"	"11"
"0000353420"	"00005154"	"90"	"1291"	"0"	"1291"	"0"	"c.1291G>C"	"r.(?)"	"p.(Ala431Pro)"	"11"
"0000353421"	"00005154"	"90"	"1291"	"0"	"1291"	"0"	"c.1291G>C"	"r.(?)"	"p.(Ala431Pro)"	"11"
"0000353422"	"00005154"	"90"	"1367"	"0"	"1369"	"0"	"c.1367_1369del"	"r.(?)"	"p.(Asn456del)"	"12"
"0000353423"	"00005154"	"90"	"712"	"0"	"712"	"0"	"c.712C>T"	"r.(?)"	"p.(Arg238Trp)"	"7"
"0000353424"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353425"	"00005154"	"90"	"803"	"-2"	"803"	"-2"	"c.803-2A>G"	"r.spl"	"p.?"	"7i"
"0000353426"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353427"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353428"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353429"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353430"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353431"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353432"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353433"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353434"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353435"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353436"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353437"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353438"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353439"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353440"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353441"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353442"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353443"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353444"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353445"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353446"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353447"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353448"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353449"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353450"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353451"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353452"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353453"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353454"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353455"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353456"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353457"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353458"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353459"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353460"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353461"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353462"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353463"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353464"	"00005154"	"90"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477Profs*30)"	"12"
"0000353465"	"00005154"	"90"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477Profs*30)"	"12"
"0000353466"	"00005154"	"90"	"1441"	"0"	"1441"	"0"	"c.1441C>T"	"r.(?)"	"p.(Arg481*)"	"12"
"0000353467"	"00005154"	"90"	"1441"	"0"	"1441"	"0"	"c.1441C>T"	"r.(?)"	"p.(Arg481*)"	"12"
"0000353468"	"00005154"	"90"	"158"	"0"	"161"	"0"	"c.158_161dup"	"r.(?)"	"p.(Lys34Asnfs*13)"	"2"
"0000353469"	"00005154"	"90"	"158"	"0"	"161"	"0"	"c.158_161dup"	"r.(?)"	"p.(Lys34Asnfs*13)"	"2"
"0000353470"	"00005154"	"90"	"183"	"0"	"187"	"0"	"c.183_187dup"	"r.(?)"	"p.(Leu63Profs*3)"	"2"
"0000353471"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353472"	"00005154"	"90"	"26"	"0"	"26"	"0"	"c.26T>G"	"r.(?)"	"p.(Leu9Arg)"	"1"
"0000353473"	"00005154"	"90"	"26"	"0"	"26"	"0"	"c.26T>G"	"r.(?)"	"p.(Leu9Arg)"	"1"
"0000353474"	"00005154"	"90"	"355"	"0"	"355"	"0"	"c.355C>T"	"r.(?)"	"p.(Gln119*)"	"5"
"0000353475"	"00005154"	"90"	"355"	"0"	"355"	"0"	"c.355C>T"	"r.(?)"	"p.(Gln119*)"	"5"
"0000353476"	"00005154"	"90"	"422"	"0"	"422"	"0"	"c.422C>T"	"r.(?)"	"p.(Pro141Leu)"	"5"
"0000353477"	"00005154"	"90"	"629"	"0"	"629"	"0"	"c.629G>T"	"r.(?)"	"p.(Cys210Phe)"	"7"
"0000353478"	"00005154"	"90"	"452"	"0"	"454"	"0"	"c.452_454del"	"r.(?)"	"p.(Glu151del)"	"5"
"0000353479"	"00005154"	"90"	"452"	"0"	"454"	"0"	"c.452_454del"	"r.(?)"	"p.(Glu151del)"	"5"
"0000353480"	"00005154"	"90"	"452"	"0"	"454"	"0"	"c.452_454del"	"r.(?)"	"p.(Glu151del)"	"5"
"0000353481"	"00005154"	"90"	"452"	"0"	"454"	"0"	"c.452_454del"	"r.(?)"	"p.(Glu151del)"	"5"
"0000353482"	"00005154"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"1_12"
"0000353483"	"00005154"	"90"	"478"	"0"	"478"	"0"	"c.478C>T"	"r.(?)"	"p.(Gln160*)"	"5"
"0000353484"	"00005154"	"90"	"535"	"0"	"535"	"0"	"c.535A>C"	"r.(?)"	"p.(Thr179Pro)"	"6"
"0000353485"	"00005154"	"90"	"535"	"0"	"535"	"0"	"c.535A>C"	"r.(?)"	"p.(Thr179Pro)"	"6"
"0000353486"	"00005154"	"90"	"485"	"0"	"485"	"0"	"c.485G>A"	"r.(?)"	"p.(Cys162Tyr)"	"5"
"0000353487"	"00005154"	"90"	"485"	"0"	"485"	"0"	"c.485G>A"	"r.(?)"	"p.(Cys162Tyr)"	"5"
"0000353490"	"00005154"	"90"	"571"	"0"	"571"	"0"	"c.571A>T"	"r.(?)"	"p.(Lys191*)"	"6"
"0000353491"	"00005154"	"90"	"571"	"0"	"571"	"0"	"c.571A>T"	"r.(?)"	"p.(Lys191*)"	"6"
"0000353492"	"00005154"	"90"	"626"	"0"	"626"	"0"	"c.626del"	"r.(?)"	"p.(Phe209Serfs*5)"	"7"
"0000353493"	"00005154"	"90"	"626"	"0"	"626"	"0"	"c.626del"	"r.(?)"	"p.(Phe209Serfs*5)"	"7"
"0000353494"	"00005154"	"90"	"971"	"0"	"971"	"0"	"c.971del"	"r.(?)"	"p.(Ile324Thrfs*61)"	"9"
"0000353495"	"00005154"	"90"	"706"	"0"	"708"	"0"	"c.706_708del"	"r.(?)"	"p.(Ile226del)"	"7"
"0000353496"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353497"	"00005154"	"90"	"764"	"0"	"764"	"0"	"c.764C>T"	"r.(?)"	"p.(Ser255Leu)"	"7"
"0000353498"	"00005154"	"90"	"764"	"0"	"764"	"0"	"c.764C>T"	"r.(?)"	"p.(Ser255Leu)"	"7"
"0000353499"	"00005154"	"90"	"764"	"0"	"764"	"0"	"c.764C>T"	"r.(?)"	"p.(Ser255Leu)"	"7"
"0000353500"	"00005154"	"90"	"783"	"0"	"783"	"0"	"c.783del"	"r.(?)"	"p.(Tyr262Thrfs*38)"	"7"
"0000353501"	"00005154"	"90"	"783"	"0"	"783"	"0"	"c.783del"	"r.(?)"	"p.(Tyr262Thrfs*38)"	"7"
"0000353502"	"00005154"	"90"	"794"	"0"	"794"	"0"	"c.794C>T"	"r.(?)"	"p.(Pro265Leu)"	"7"
"0000353503"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353504"	"00005154"	"90"	"794"	"0"	"794"	"0"	"c.794C>T"	"r.(?)"	"p.(Pro265Leu)"	"7"
"0000353505"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353506"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353507"	"00005154"	"90"	"794"	"0"	"794"	"0"	"c.794del"	"r.(?)"	"p.(Pro265Argfs*35)"	"7"
"0000353508"	"00005154"	"90"	"835"	"0"	"835"	"0"	"c.835G>C"	"r.(?)"	"p.(Val279Leu)"	"8"
"0000353509"	"00005154"	"90"	"865"	"0"	"865"	"0"	"c.865C>T"	"r.(?)"	"p.(Leu289Phe)"	"8"
"0000353510"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353511"	"00005154"	"90"	"872"	"0"	"872"	"0"	"c.872C>T"	"r.(?)"	"p.(Ala291Val)"	"8"
"0000353512"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353513"	"00005154"	"90"	"872"	"0"	"872"	"0"	"c.872C>T"	"r.(?)"	"p.(Ala291Val)"	"8"
"0000353515"	"00005154"	"90"	"0"	"0"	"0"	"0"	"c.917G<T"	"r.spl?"	"p.(Arg306Met)"	"8"
"0000353516"	"00005154"	"90"	"0"	"0"	"0"	"0"	"c.917G<T"	"r.spl?"	"p.(Arg306Met)"	"8"
"0000353517"	"00005154"	"90"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353518"	"00005154"	"90"	"0"	"0"	"0"	"0"	"c.917G<T"	"r.spl?"	"p.(Arg306Met)"	"8"
"0000353519"	"00005154"	"90"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(?)"	"p.(Asn452Glufs*4)"	"12"
"0000353520"	"00005154"	"90"	"0"	"0"	"0"	"0"	"c.917G<T"	"r.spl?"	"p.(Arg306Met)"	"8"
"0000353521"	"00005154"	"90"	"92"	"0"	"92"	"0"	"c.92T>C"	"r.(?)"	"p.(Leu31Pro)"	"2"
"0000353522"	"00005154"	"90"	"92"	"0"	"92"	"0"	"c.92T>C"	"r.(?)"	"p.(Leu31Pro)"	"2"
"0000353523"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>C"	"r.spl?"	"p.?"	"10i"
"0000353524"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>C"	"r.spl?"	"p.?"	"10i"
"0000353525"	"00005154"	"90"	"971"	"0"	"971"	"0"	"c.971del"	"r.(?)"	"p.(Ile324Thrfs*61)"	"9"
"0000353526"	"00005154"	"90"	"501"	"-16"	"501"	"-16"	"c.501-16G>A"	"r.[500_501ins501-14_501-1]"	"p.fs*"	"4i"
"0000353527"	"00005154"	"90"	"501"	"-16"	"501"	"-16"	"c.501-16G>A"	"r.[500_501ins501-14_501-1]"	"p.fs*"	"4i"
"0000353528"	"00005154"	"90"	"971"	"0"	"971"	"0"	"c.971del"	"r.(?)"	"p.(Ile324Thrfs*61)"	"9"
"0000353529"	"00005154"	"90"	"803"	"-2"	"803"	"-2"	"c.803-2A>G"	"r.spl"	"p.?"	"7i"
"0000353530"	"00005154"	"90"	"803"	"-2"	"803"	"-2"	"c.803-2A>G"	"r.spl"	"p.?"	"7i"
"0000353531"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353532"	"00005154"	"90"	"803"	"-2"	"803"	"-2"	"c.803-2A>G"	"r.spl"	"p.?"	"7i"
"0000353533"	"00005154"	"90"	"802"	"2"	"802"	"2"	"c.802+2T>C"	"r.spl?"	"p.(?)"	"7i"
"0000353534"	"00005154"	"90"	"802"	"2"	"802"	"2"	"c.802+2T>C"	"r.spl?"	"p.(?)"	"7i"
"0000353535"	"00005154"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"1_12"
"0000353536"	"00005154"	"50"	"901"	"0"	"901"	"0"	"c.901G>A"	"r.(?)"	"p.(Val301Met)"	"8"
"0000353537"	"00005154"	"50"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"1_12"
"0000353538"	"00005154"	"50"	"1072"	"0"	"1072"	"0"	"c.1072C>A"	"r.(?)"	"p.(Pro368Thr)"	"10"
"0000353539"	"00005154"	"90"	"865"	"0"	"865"	"0"	"c.865C>T"	"r.(?)"	"p.(Leu289Phe)"	"8"
"0000353540"	"00005154"	"10"	"53"	"0"	"53"	"0"	"c.53G>T"	"r.53g>u"	"p.Gly18Val"	"2"
"0000353541"	"00005154"	"10"	"917"	"15"	"917"	"15"	"c.917+15C>G"	"r.(?)"	"p.(=)"	"8i"
"0000353542"	"00005154"	"10"	"1033"	"-6"	"1033"	"-6"	"c.1033-6C>T"	"r.(?)"	"p.(=)"	"9i"
"0000353543"	"00005154"	"10"	"1293"	"0"	"1293"	"0"	"c.1293C>T"	"r.(?)"	"p.(=)"	"11"
"0000353544"	"00005154"	"70"	"583"	"0"	"583"	"0"	"c.583G>C"	"r.(?)"	"p.(Asp195His)"	"6"
"0000353545"	"00005154"	"70"	"617"	"0"	"635"	"0"	"c.617_635del"	"r.(?)"	"p.(Ala206Glyfs*2)"	"7"
"0000353546"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.(?)"	"p.(Trp205Serfs*7)"	"7"
"0000353547"	"00005154"	"90"	"1033"	"-1"	"1033"	"-1"	"c.1033-1G>C"	"r.spl?"	"p.?"	"9i"
"0000353548"	"00005154"	"50"	"803"	"-6"	"803"	"-3"	"c.803-6_803-3del"	"r.spl?"	"p.(?)"	"8i"
"0000353549"	"00005154"	"70"	"1121"	"0"	"1121"	"0"	"c.1121C>A"	"r.(?)"	"p.(Ser374*)"	"10"
"0000353550"	"00005154"	"70"	"1326"	"1"	"1326"	"1"	"c.1326+1G>A"	"r.spl"	"p.?"	"11i"
"0000353551"	"00005154"	"70"	"1326"	"1"	"1326"	"1"	"c.1326+1G>A"	"r.spl"	"p.?"	"11i"
"0000353552"	"00005154"	"90"	"1093"	"0"	"1093"	"0"	"c.1093del"	"r.(?)"	"p.(Ala365Profs*20)"	"10"
"0000353553"	"00005154"	"70"	"1319"	"0"	"1326"	"15"	"c.1319_1326+15del"	"r.spl"	"p.?"	"11"
"0000353554"	"00005154"	"50"	"992"	"0"	"992"	"0"	"c.992G>A"	"r.(?)"	"p.(Arg331Gln)"	"9"
"0000353555"	"00005154"	"50"	"992"	"0"	"992"	"0"	"c.992G>A"	"r.(?)"	"p.(Arg331Gln)"	"9"
"0000353556"	"00005154"	"90"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Leu241Phe)"	"7"
"0000353557"	"00005154"	"50"	"126"	"0"	"126"	"0"	"c.126dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	"2"
"0000353558"	"00005154"	"90"	"105"	"0"	"105"	"0"	"c.105T>A"	"r.(?)"	"p.(Tyr35*)"	"2"
"0000353559"	"00005154"	"90"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(1353dup)"	"p.(Asn452Glufs*4)"	"12"
"0000353560"	"00005154"	"90"	"1353"	"0"	"1353"	"0"	"c.1353dup"	"r.(1353dup)"	"p.(Asn452Glufs*4)"	"12"
"0000353561"	"00005154"	"90"	"1291"	"0"	"1291"	"0"	"c.1291G>C"	"r.(?)"	"p.(Ala431Pro)"	"11"
"0000353562"	"00005154"	"90"	"1291"	"0"	"1291"	"0"	"c.1291G>C"	"r.(?)"	"p.(Ala431Pro)"	"11"
"0000353563"	"00005154"	"90"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(?)"	"p.(Arg331Trp)"	"9"
"0000353564"	"00005154"	"90"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(?)"	"p.(Arg331Trp)"	"9"
"0000353565"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>G"	"r.spl"	"p.?"	"10i"
"0000353566"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>G"	"r.spl"	"p.?"	"10i"
"0000353567"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>G"	"r.spl"	"p.?"	"10i"
"0000353568"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>G"	"r.spl"	"p.?"	"10i"
"0000353569"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.1327del"	"p.Glu443Lysfs*64"	"12"
"0000353570"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.1327del"	"p.Glu443Lysfs*64"	"12"
"0000353571"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353572"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353573"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353574"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353575"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353576"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353577"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353578"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353579"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.(?)"	"p.(Trp205Serfs*7)"	"7"
"0000353580"	"00005154"	"90"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(?)"	"p.(Arg331Trp)"	"9"
"0000353581"	"00005154"	"90"	"183"	"0"	"187"	"0"	"c.183_187dup"	"r.183_187dup"	"p.Leu63Profs*3"	"2"
"0000353582"	"00005154"	"90"	"794"	"0"	"794"	"0"	"c.794C>T"	"r.(?)"	"p.(Pro265Leu)"	"7"
"0000353583"	"00005154"	"90"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Arg84*)"	"4"
"0000353584"	"00005154"	"90"	"500"	"0"	"500"	"0"	"c.500G>T"	"r.500g>u"	"p.Arg167Leu"	"5"
"0000353585"	"00005154"	"90"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(?)"	"p.(Arg331Trp)"	"9"
"0000353586"	"00005154"	"90"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(?)"	"p.(Arg331Trp)"	"9"
"0000353587"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353588"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.1327del"	"p.Glu443Lysfs*64"	"12"
"0000353589"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353590"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353591"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353592"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	"12"
"0000353593"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>G"	"r.spl"	"p.?"	"10i"
"0000353594"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>G"	"r.spl"	"p.?"	"10i"
"0000353595"	"00005154"	"90"	"1219"	"2"	"1219"	"2"	"c.1219+2T>G"	"r.spl"	"p.?"	"10i"
"0000353596"	"00005154"	"90"	"211"	"0"	"211"	"0"	"c.211A>C"	"r.(?)"	"p.(Thr71Pro)"	"3"
"0000353597"	"00005154"	"90"	"783"	"0"	"783"	"0"	"c.783del"	"r.(?)"	"p.(Tyr262Thrfs*38)"	"7"
"0000353598"	"00005154"	"90"	"813"	"0"	"820"	"0"	"c.813_820dup"	"r.(?)"	"p.(Thr274Argfs*29)"	"8"
"0000353599"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.(?)"	"p.(Glu443Lysfs*64)"	"12"
"0000353600"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.(?)"	"p.(Glu443Lysfs*64)"	"12"
"0000353601"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.(?)"	"p.(Trp205Serfs*7)"	"7"
"0000353602"	"00005154"	"90"	"1231"	"0"	"1231"	"0"	"c.1231C>T"	"r.(?)"	"p.(Gln411*)"	"11"
"0000353603"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.(?)"	"p.(Trp205Serfs*7)"	"7"
"0000353604"	"00005154"	"70"	"529"	"0"	"531"	"0"	"c.529_531del"	"r.(?)"	"p.(Glu177del)"	"6"
"0000367753"	"00005154"	"10"	"1033"	"-6"	"1033"	"-6"	"c.1033-6C>T"	"r.(=)"	"p.(=)"	"9i"
"0000367754"	"00005154"	"10"	"917"	"15"	"917"	"15"	"c.917+15C>G"	"r.(=)"	"p.(=)"	"8i"
"0000367755"	"00005154"	"10"	"519"	"0"	"519"	"0"	"c.519C>T"	"r.(=)"	"p.(=)"	"6"
"0000442475"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.Glu443Lysfs*64"	""
"0000442730"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.Glu443Lysfs*64"	""
"0000562115"	"00005154"	"30"	"1119"	"0"	"1119"	"0"	"c.1119G>T"	"r.(?)"	"p.(Ser373=)"	""
"0000562117"	"00005154"	"90"	"865"	"0"	"865"	"0"	"c.865C>T"	"r.(?)"	"p.(Leu289Phe)"	""
"0000604588"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000616659"	"00005154"	"30"	"1466"	"0"	"1466"	"0"	"c.1466C>T"	"r.(?)"	"p.(Pro489Leu)"	""
"0000616660"	"00005154"	"30"	"53"	"0"	"53"	"0"	"c.53G>T"	"r.(?)"	"p.(Gly18Val)"	""
"0000624912"	"00005154"	"70"	"794"	"0"	"794"	"0"	"c.794del"	"r.(?)"	"p.(Pro265Argfs*35)"	""
"0000624914"	"00005154"	"70"	"-96"	"0"	"-96"	"0"	"c.-96C>T"	"r.(?)"	"p.(?)"	""
"0000647137"	"00005154"	"50"	"1069"	"0"	"1069"	"0"	"c.1069C>T"	"r.(?)"	"p.(Pro357Ser)"	""
"0000649631"	"00005154"	"30"	"53"	"0"	"53"	"0"	"c.53G>T"	"r.(?)"	"p.(Gly18Val)"	""
"0000649632"	"00005154"	"50"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Gly13Arg)"	""
"0000658170"	"00005154"	"30"	"3688"	"0"	"3688"	"0"	"c.*2206C>T"	"r.(=)"	"p.(=)"	""
"0000659729"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000664366"	"00005154"	"90"	"130"	"0"	"130"	"0"	"c.130dup"	"r.(?)"	"p.(Glu44Glyfs*3)"	""
"0000664367"	"00005154"	"90"	"337"	"0"	"337"	"0"	"c.337G>T"	"r.(?)"	"p.(Glu113*)"	""
"0000664792"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.(?)"	"p.(Trp205Serfs*7)"	"7"
"0000664793"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.(?)"	"p.(Trp205Serfs*7)"	"7"
"0000664794"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.(?)"	"p.(Trp205Serfs*7)"	"7"
"0000664795"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.[501_601del;614_620del,614_620del]"	"p.[Ser168_Ile207delinsGluArgArgVal,Trp205Serfs*7]"	"7"
"0000664796"	"00005154"	"90"	"614"	"0"	"620"	"0"	"c.614_620del"	"r.(?)"	"p.(Trp205Serfs*7)"	"7"
"0000664797"	"00005154"	"90"	"1033"	"-1"	"1033"	"-1"	"c.1033-1G>C"	"r.1032_1033ins[1032+1_1033-2;c]"	"p.?"	"9i"
"0000664798"	"00005154"	"90"	"345"	"-2"	"345"	"-2"	"c.345-2A>C"	"r.spl"	"p.?"	"4i"
"0000686014"	"00005154"	"90"	"1016"	"0"	"1032"	"2"	"c.1016_1032+2dup"	"r.?"	"p.?"	"9"
"0000692386"	"00005154"	"30"	"1416"	"0"	"1416"	"0"	"c.1416C>T"	"r.(?)"	"p.(Leu472=)"	""
"0000692387"	"00005154"	"30"	"6"	"0"	"6"	"0"	"c.6A>G"	"r.(?)"	"p.(Ala2=)"	""
"0000726480"	"00005154"	"50"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477ProfsTer30)"	""
"0000726481"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.(?)"	"p.(Glu443LysfsTer64)"	""
"0000726482"	"00005154"	"70"	"1033"	"-1"	"1033"	"-1"	"c.1033-1G>C"	"r.spl?"	"p.?"	""
"0000786793"	"00005154"	"90"	"183"	"0"	"187"	"0"	"c.183_187dup"	"r.(?)"	"p.(Leu63ProfsTer3)"	"2"
"0000786794"	"00005154"	"90"	"183"	"0"	"187"	"0"	"c.183_187dup"	"r.(?)"	"p.(Leu63ProfsTer3)"	"2"
"0000786795"	"00005154"	"90"	"799"	"0"	"799"	"0"	"c.799C>T"	"r.(?)"	"p.(Gln267Ter)"	"7"
"0000786796"	"00005154"	"70"	"878"	"0"	"887"	"0"	"c.878_887dup"	"r.(?)"	"p.(Thr297AsnfsTer103)"	"8"
"0000786797"	"00005154"	"70"	"1216"	"0"	"1219"	"19"	"c.1216_1219+19del"	"r.spl"	"p.?"	"10_10i"
"0000786798"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443LysfsTer64)"	"12"
"0000786799"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443LysfsTer64)"	"12"
"0000786800"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443LysfsTer64)"	"12"
"0000786801"	"00005154"	"70"	"1371"	"0"	"1371"	"0"	"c.1371del"	"r.(?)"	"p.(Cys458AlafsTer49)"	"12"
"0000786802"	"00005154"	"70"	"1371"	"0"	"1371"	"0"	"c.1371del"	"r.(?)"	"p.(Cys458AlafsTer49)"	"12"
"0000787236"	"00005154"	"50"	"893"	"0"	"893"	"0"	"c.893C>G"	"r.(?)"	"p.(Ser298Cys)"	"8"
"0000833072"	"00005154"	"70"	"865"	"0"	"865"	"0"	"c.865C>T"	"r.(?)"	"p.(Leu289Phe)"	""
"0000833112"	"00005154"	"70"	"488"	"0"	"488"	"0"	"c.488C>T"	"r.(?)"	"p.(Ser163Leu)"	""
"0000833162"	"00005154"	"70"	"1058"	"0"	"1077"	"0"	"c.1058_1077del"	"r.(?)"	"p.(Leu353ProfsTer37)"	""
"0000844680"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844685"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844686"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844691"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844692"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844714"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844715"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844718"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844723"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844724"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.spl?"	"p.(Glu443Lysfs*64)"	""
"0000844727"	"00005154"	"90"	"1326"	"1"	"1326"	"1"	"c.1326+1G>A"	"r.spl?"	"p.?"	""
"0000844728"	"00005154"	"90"	"1326"	"1"	"1326"	"1"	"c.1326+1G>A"	"r.spl?"	"p.?"	""
"0000854979"	"00005154"	"90"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Leu241Phe)"	""
"0000865339"	"00005154"	"50"	"2995"	"0"	"2995"	"0"	"c.*1513C>T"	"r.(=)"	"p.(=)"	""
"0000865340"	"00005154"	"90"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477ProfsTer30)"	""
"0000865341"	"00005154"	"90"	"1327"	"0"	"1327"	"0"	"c.1327del"	"r.(?)"	"p.(Glu443LysfsTer64)"	""
"0000865342"	"00005154"	"50"	"1169"	"0"	"1169"	"0"	"c.1169G>C"	"r.(?)"	"p.(Arg390Pro)"	""
"0000865343"	"00005154"	"50"	"896"	"0"	"896"	"0"	"c.896T>C"	"r.(?)"	"p.(Leu299Pro)"	""
"0000871936"	"00005154"	"90"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Leu241Phe)"	""
"0000893995"	"00005154"	"50"	"896"	"0"	"896"	"0"	"c.896T>C"	"r.(?)"	"p.(Leu299Pro)"	""
"0000893996"	"00005154"	"90"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.(?)"	"p.(Leu241Phe)"	""
"0000893997"	"00005154"	"50"	"581"	"0"	"581"	"0"	"c.581T>C"	"r.(?)"	"p.(Ile194Thr)"	""
"0000893998"	"00005154"	"30"	"45"	"0"	"45"	"0"	"c.45C>T"	"r.(?)"	"p.(Leu15=)"	""
"0000914875"	"00005154"	"70"	"601"	"2"	"601"	"2"	"c.601+2T>A"	"r.spl?"	"p.?"	""
"0000930806"	"00005154"	"30"	"344"	"18"	"344"	"18"	"c.344+18C>T"	"r.(=)"	"p.(=)"	""
"0000945982"	"00005154"	"90"	"850"	"0"	"850"	"0"	"c.850A>C"	"r.(?)"	"p.(Thr284Pro)"	""
"0000982588"	"00005154"	"30"	"9100"	"0"	"9100"	"0"	"c.*7618C>T"	"r.(=)"	"p.(=)"	""
"0000982589"	"00005154"	"50"	"5054"	"0"	"5054"	"0"	"c.*3572G>A"	"r.(=)"	"p.(=)"	""
"0000982590"	"00005154"	"50"	"1463"	"0"	"1463"	"0"	"c.1463C>T"	"r.(?)"	"p.(Ala488Val)"	""
"0000982591"	"00005154"	"50"	"1282"	"0"	"1282"	"0"	"c.1282A>T"	"r.(?)"	"p.(Asn428Tyr)"	""
"0000982592"	"00005154"	"50"	"1180"	"0"	"1180"	"0"	"c.1180G>A"	"r.(?)"	"p.(Val394Met)"	""
"0000982593"	"00005154"	"50"	"509"	"0"	"509"	"0"	"c.509C>A"	"r.(?)"	"p.(Thr170Lys)"	""
"0000989372"	"00005154"	"50"	"1291"	"0"	"1291"	"0"	"c.1291G>T"	"r.(?)"	"p.(Ala431Ser)"	""
"0001003370"	"00005154"	"50"	"488"	"0"	"488"	"0"	"c.488C>T"	"r.(?)"	"p.(Ser163Leu)"	""
"0001003371"	"00005154"	"90"	"103"	"0"	"103"	"0"	"c.103T>C"	"r.(?)"	"p.(Tyr35His)"	""
"0001026958"	"00005154"	"50"	"1077"	"0"	"1079"	"0"	"c.1077_1079dup"	"r.(?)"	"p.(Pro360dup)"	""
"0001041943"	"00005154"	"30"	"1446"	"0"	"1446"	"0"	"c.1446G>A"	"r.(?)"	"p.(=)"	""
"0001041944"	"00005154"	"10"	"1402"	"0"	"1402"	"0"	"c.1402G>C"	"r.(?)"	"p.(Val468Leu)"	""
"0001041945"	"00005154"	"50"	"1063"	"0"	"1063"	"0"	"c.1063G>C"	"r.(?)"	"p.(Gly355Arg)"	""
"0001041946"	"00005154"	"10"	"966"	"0"	"966"	"0"	"c.966C>T"	"r.(?)"	"p.(=)"	""
"0001041947"	"00005154"	"50"	"671"	"0"	"671"	"0"	"c.671G>A"	"r.(?)"	"p.(Gly224Asp)"	""
"0001041948"	"00005154"	"50"	"581"	"0"	"581"	"0"	"c.581T>C"	"r.(?)"	"p.(Ile194Thr)"	""
"0001041949"	"00005154"	"70"	"37"	"0"	"37"	"0"	"c.37G>A"	"r.(?)"	"p.(Gly13Arg)"	""
"0001046948"	"00005154"	"70"	"1429"	"0"	"1429"	"0"	"c.1429del"	"r.(?)"	"p.(Ala477ProfsTer30)"	""
"0001055782"	"00005154"	"90"	"992"	"0"	"992"	"0"	"c.992G>A"	"r.(?)"	"p.(Arg331Gln)"	""
"0001055783"	"00005154"	"10"	"519"	"0"	"519"	"0"	"c.519C>T"	"r.(?)"	"p.(=)"	""
"0001055784"	"00005154"	"30"	"500"	"53"	"500"	"53"	"c.500+53T>G"	"r.(=)"	"p.(=)"	""
"0001055785"	"00005154"	"50"	"345"	"-10"	"345"	"-10"	"c.345-10G>T"	"r.(=)"	"p.(=)"	""
"0001055786"	"00005154"	"90"	"250"	"0"	"250"	"0"	"c.250C>T"	"r.(?)"	"p.(Arg84*)"	""
"0001055787"	"00005154"	"50"	"202"	"0"	"202"	"0"	"c.202G>A"	"r.(?)"	"p.(Glu68Lys)"	""
"0001066598"	"00005154"	"50"	"1168"	"0"	"1168"	"0"	"c.1168C>T"	"r.(?)"	"p.(Arg390Trp)"	""
"0001066599"	"00005154"	"50"	"47"	"-8"	"47"	"-8"	"c.47-8dup"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 421
"{{screeningid}}"	"{{variantid}}"
"0000035298"	"0000062417"
"0000035299"	"0000062418"
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