### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ATP7A)
# 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}}"
"ATP7A"	"ATPase, Cu++ transporting, alpha polypeptide"	"X"	"q21.1"	"unknown"	"NG_013224.2"	"UD_132118427278"	""	"https://www.LOVD.nl/ATP7A"	""	"1"	"869"	"538"	"300011"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/ATP7A_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2018-05-07 22:22:41"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00025270"	"ATP7A"	"ATPase, Cu++ transporting, alpha polypeptide"	"001"	"NM_000052.5"	""	"NP_000043.3"	""	""	""	"-160"	"8328"	"4503"	"77166194"	"77305892"	"00006"	"2018-05-07 22:24:29"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00169"	"EDS"	"Ehlers-Danlos syndrome (EDS)"	""	""	""	""	""	"00006"	"2013-08-01 11:03:44"	"00006"	"2021-12-10 21:51:32"
"00187"	"MRX;IDX"	"mental retardation, X-linked (MRX, intellectual disability (IDX))"	""	""	""	"X-linked"	""	"00006"	"2013-09-05 15:56:47"	"00006"	"2018-12-18 09:23:21"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01068"	"MNK"	"Menkes disease"	"XLR"	"309400"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01069"	"OHS"	"occipital horn syndrome (OHS)"	"XLR"	"304150"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01070"	"SMAX3"	"atrophy, muscular, spinal, distal, X-linked, type 3 (SMAX3)"	"XLR"	"300489"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-09-30 16:42:57"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05113"	"CMT"	"Charcot-Marie-Tooth disease (CMT)"	""	""	""	""	""	"00006"	"2016-01-11 01:40:57"	""	""
"05123"	"SMA"	"atrophy, muscular, spinal (SMA)"	""	""	""	""	""	"00006"	"2016-01-24 01:41:54"	""	""
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"ATP7A"	"00139"
"ATP7A"	"01068"
"ATP7A"	"01069"
"ATP7A"	"01070"


## Individuals ## Do not remove or alter this header ##
## Count = 452
"{{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}}"
"00000040"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000041"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000093"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000108"	""	""	""	"1"	""	"00002"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000109"	""	""	""	"1"	""	"00002"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000110"	""	""	""	"1"	""	"00002"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00034845"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00034846"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00034847"	""	""	""	"1"	""	"01164"	""	""	""	""	"Germany"	""	"0"	""	""	""	""
"00172347"	""	""	""	"10"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00172348"	""	""	""	"1"	""	"00124"	"{PMID:Tarpey 2009:19377476}"	""	"M"	""	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	"19377476-Pat?"
"00183134"	""	""	""	"3"	""	"00006"	"{PMID:Hu 2016:25644381}"	"family, 3 affected, 2 unaffected heterozygous carrier females"	"M"	""	""	""	"0"	""	""	""	"25644381-FamP161"
"00269887"	""	""	""	"1"	""	"01807"	""	""	"?"	""	""	""	"0"	""	""	""	""
"00295098"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295099"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295100"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295101"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00296874"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00300034"	""	""	""	"1"	""	"00006"	"{PMID:Antoniadi 2015:26392352}"	"analysis 448 inherited peripheral neuropathy cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00303299"	""	""	""	"1"	""	"00006"	"Fliedner ESHG2020 C02.1, {PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	""	""	"0"	""	""	""	"Pat4"
"00312101"	""	""	""	"1"	""	"01594"	"{PMID:Levinson 1996:8923001}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312102"	""	""	""	"1"	""	"01594"	"{PMID:Gerard-Blanluet 2004:15372525}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312103"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	""	""	""	""	""	"0"	""	""	""	""
"00312104"	""	""	""	"1"	""	"01594"	"{PMID:Das 1994:7977350}"	""	""	""	""	""	"0"	""	""	""	""
"00312105"	""	""	""	"1"	""	"01594"	"{PMID:Das 1994:7977350}, {PMID:Vulpe 1993:8490659}"	"single case"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312106"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1996:8528242}, {PMID:George and Casey 2001:11370266}"	"single case, mother carrier"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312107"	""	""	""	"1"	""	"01594"	"{PMID:Ogawa 1999:10319589}"	""	""	""	""	""	"0"	""	""	""	"pat1"
"00312108"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"familial, Mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312109"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312110"	""	""	""	"1"	""	"01594"	"{PMID:Das 1994:7977350}"	""	""	""	""	""	"0"	""	""	""	""
"00312111"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312112"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312113"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312114"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312115"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312116"	""	""	""	"3"	""	"01594"	"{PMID:Das 1994:7977350}, {PMID:Kaler 1996:8812725}, {PMID:Kim 2003:12676902}, {PMID:Kaler 2010:20652413},  {PMID:Skjørringe 2011:21494555}, {PMID:Bell 2011:21228398}"	"family, 3 members, 1 alive 18m"	""	""	""	""	"0"	""	"3 members, 1 Cu treatment from day 8, normal (in 1996)"	""	""
"00312117"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	""	""	""	""	""	"0"	""	""	""	""
"00312118"	""	""	""	"2"	""	"01594"	"{PMID:Gu 2007:17178205}, {PMID:Gu2012:22361452}"	"Gu 2012 (patient12)"	"M"	""	"Japan"	""	"0"	""	""	""	""
"00312119"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 21"
"00312120"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312121"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312122"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312123"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312124"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1996:8528242}"	"single case, mother carrier"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312125"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312126"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"familial, sister carrier"	""	""	""	""	"0"	""	""	""	""
"00312127"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 22"
"00312128"	""	""	""	"1"	""	"01594"	"{PMID:Zhang 2008:18272047}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312129"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312130"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312131"	""	""	""	"2"	""	"01594"	"{PMID:Gu 2001:11241493}, {PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312132"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312133"	""	""	""	"1"	""	"01594"	"{PMID:Mak 2002:12088078}"	"mother carrier"	""	""	""	""	"0"	""	""	""	"patient 3"
"00312134"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 23"
"00312135"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312136"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312137"	""	""	""	"3"	""	"01594"	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}, {PMID:Skjørringe 2011:21494555}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312138"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312139"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312140"	""	""	""	"1"	""	"01594"	"{PMID:Ambrosini 1999:10401004}"	"familial, mother carrier"	""	""	""	""	"0"	""	"Cu treatment; half-brother not treated"	""	""
"00312141"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312142"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312143"	""	""	""	"2"	""	"01594"	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}"	""	""	""	""	""	"0"	""	""	""	""
"00312144"	""	""	""	"1"	""	"01594"	"{PMID:Dagenais 2001:11431706}"	"familial, single patient"	""	""	""	""	"0"	""	""	""	""
"00312145"	""	""	""	"1"	""	"01594"	"{PMID:Das 1994:7977350} {PMID:Bell 2011:21228398}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312146"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312147"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"Cu treatment from day 7, moderate delay"	""	"patient 9"
"00312148"	""	""	""	"2"	""	"01594"	"{PMID:Kaler 2009:19194885}, {PMID:Kaler 2010:20652413}"	"familial"	""	""	""	""	"0"	""	"Index Cu treatment 8 days>3years, normal development, occipital horns 11.5yr"	""	""
"00312149"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 17"
"00312150"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312151"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312152"	""	""	""	"2"	""	"01594"	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}, {PMID:Gu2012:22361452}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312153"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	""	""	""	""	""	"0"	""	""	""	""
"00312154"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"Cu treatment from day 16, severe delay"	""	"patient 11"
"00312155"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312156"	""	""	""	"1"	""	"01594"	"{PMID:Das 1994:7977350}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312157"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312158"	""	""	""	"1"	""	"01594"	"{PMID:Watanabe 2005:15693857}"	""	""	""	""	""	"0"	""	""	""	"Patient 1"
"00312159"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312160"	""	""	""	"1"	""	"01594"	"{PMID:Hahn 2001:11350187}"	""	""	""	""	""	"0"	""	""	""	""
"00312161"	""	""	""	"1"	""	"01594"	"{PMID:Hahn 2001:11350187}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312162"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 18"
"00312163"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312164"	""	""	""	"1"	""	"01594"	"{PMID:Ogawa 2000:11043517}"	""	""	""	""	""	"0"	""	""	""	""
"00312165"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312166"	""	""	""	"1"	""	"01594"	"{PMID:Mak 2002:12088078}"	""	""	""	""	""	"0"	""	""	""	"patient 1"
"00312167"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312168"	""	""	""	"1"	""	"01594"	"{PMID:Kim 2011:21738351}"	""	""	""	""	""	"0"	""	""	""	""
"00312169"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312170"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312171"	""	""	""	"2"	""	"01594"	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312172"	""	""	""	"1"	""	"01594"	"{PMID:Jankov 1998:9894833}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312173"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 19"
"00312174"	""	""	""	"2"	""	"01594"	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}, {PMID:Gu2012:22361452}"	""	""	""	""	""	"0"	""	""	""	""
"00312175"	""	""	""	"1"	""	"01594"	"{PMID:Ozawa 2001:11472597}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312176"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2002:12427520}"	""	""	""	""	""	"0"	""	""	""	""
"00312177"	""	""	""	"1"	""	"01594"	"{PMID:Watanabe 2005:15693857}"	""	""	""	""	""	"0"	""	""	""	"Patient2"
"00312178"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312179"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"Cu treatment from day 10"	""	"patient 12"
"00312180"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 20"
"00312181"	""	""	""	"1"	""	"01594"	"{PMID:Seidel 2001:11936861}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312182"	""	""	""	"2"	""	"01594"	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	"familial"	""	""	""	""	"0"	""	"Index Cu treatment from day 12, severe delays"	""	""
"00312183"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}, {PMID:de Bie 2007:17717039}, {PMID:Banci 2005:16083905}, {PMID:Payne 1998:9452509}, {PMID:Kouza 2010:20714486}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312184"	""	""	""	"1"	""	"01594"	"{PMID:Olivares 2006:16630173}"	""	""	""	""	""	"0"	""	"Cu treatment from 1yr , mild improvement"	""	""
"00312185"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 1"
"00312186"	""	""	""	"1"	""	"01594"	"{PMID:Ronce 1997:9246006}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312187"	""	""	""	"1"	""	"01594"	"{PMID: Donsante 2007:17496194}, {PMID:de Bie 2007:17717039}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312188"	""	""	""	"1"	""	"01594"	"{PMID:Kroepfl 2006:16786254}"	"single case"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312189"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 2008:18256395}"	"familial"	""	""	""	""	"0"	""	"Cu treatment from day 10 >3yr, bright"	""	"patient 8"
"00312190"	""	""	""	"2"	""	"01594"	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	"familial"	""	""	""	""	"0"	""	"Index, Cu treatment treat from day 22 > 3yr, moderate delays; maternal uncle not treated"	""	""
"00312191"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 2"
"00312192"	""	""	""	"1"	""	"01594"	"{PMID:Hahn 2001:11350187}"	""	""	""	""	""	"0"	""	""	""	""
"00312193"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2002:12427520}"	""	""	""	""	""	"0"	""	""	""	""
"00312194"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312195"	""	""	""	"3"	""	"01594"	"{PMID:Kaler 1995:8526465}, {PMID:Kaler 2010:20652413}, {PMID:Skjørringe 2011:21494555}"	"familial"	""	""	""	""	"0"	""	"V-2, Cu treatment from day 9; V-4, Cu treatment in utero 32w"	""	""
"00312196"	""	""	""	"1"	""	"01594"	"{PMID:Das 1994:7977350}"	""	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312197"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312198"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312199"	""	""	""	"1"	""	"01594"	"{PMID:Tang 2008:18752978}"	""	""	""	""	""	"0"	""	"Cu treatment from mo 7.6"	""	"patient A"
"00312200"	""	""	""	"2"	""	"01594"	"{PMID:Tang 2008:18752978}, {PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"Cu treatment from day 25, minimal delays"	""	""
"00312201"	""	""	""	"1"	""	"01594"	"{PMID:Tang 2008:18752978}"	"familial"	""	""	""	""	"0"	""	"Cu treatment from day 24"	""	"patient C"
"00312202"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 3"
"00312203"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312204"	""	""	""	"2"	""	"01594"	"{PMID:Kaler 1994:7842019}, {PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312205"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}, {PMID:Sztriha 1994:7943608}, {PMID:Gerdes 1988:3234433}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312206"	""	""	""	"1"	""	"01594"	"{PMID:László 2010:20420124}, {PMID:de Bie 2007:17717039}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312207"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312208"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312209"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}; {PMID:Dabadie 1984:6739227}; {PMID:de Bie 2007:17717039}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312210"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 4"
"00312211"	""	""	""	"1"	""	"01594"	"{PMID:Ogawa 1999:10319589}, {PMID:Petris 2002:12228238}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}, {PMID:Vonk 2011:21667063}"	""	""	""	""	""	"0"	""	""	""	""
"00312212"	""	""	""	"2"	""	"01594"	"{PMID:Møller 2005:15981243}, {PMID:Skjørringe 2011:21494555}, {PMID:de Bie 2007:17717039}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312213"	""	""	""	"3"	""	"01594"	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312214"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312215"	""	""	""	"1"	""	"01594"	"{PMID:Kennerson 2010:20170900}"	""	""	""	""	""	"0"	""	""	""	""
"00312216"	""	""	""	"1"	""	"01594"	"{PMID:Yoshimizu 1998:9692213}, {PMID:Tümer 1999:10079817}, {PMID:Bissig 2001:11415452}, {PMID:Petris 2002:12228238}, {PMID:Kim 2003:12676902},  {PMID:Lowe 2004:15078884}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039},  {PMID:Vonk 2011:21667063}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312217"	""	""	""	"1"	""	"01594"	"{PMID:Donsante 2010:20799318}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312218"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 5"
"00312219"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948}, {PMID:Møller 2005:15981243}"	"single case"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312220"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	""	""	""	"0"	""	""	""	""
"00312221"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 6"
"00312222"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312223"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1997:8981948},  {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039},  {PMID:Payne 1998:9452509}"	""	""	""	""	""	"0"	""	""	""	""
"00312224"	""	""	""	"3"	""	"01594"	"{PMID:Grange 2005:16278898}, {PMID:Kaler 2010:20652413}, {PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	"Cu treatment from day 30"	""	""
"00312225"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312226"	""	""	""	"1"	""	"01594"	"{PMID:Watanabe 2005:15693857}"	""	""	""	""	""	"0"	""	""	""	"Patient3"
"00312227"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 7"
"00312228"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 8"
"00312229"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312230"	""	""	""	"1"	""	"01594"	"{PMID:Hahn 2001:11350187}, {PMID:Møller 2005:15981243}"	""	""	""	""	""	"0"	""	""	""	""
"00312231"	""	""	""	"1"	""	"01594"	"{PMID:Hahn 2001:11350187}, {PMID:Møller 2005:15981243}"	""	""	""	""	""	"0"	""	""	""	""
"00312232"	""	""	""	"1"	""	"01594"	"{PMID:Watanabe 2005:15693857}"	""	""	""	""	""	"0"	""	""	""	"Patient4"
"00312233"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	""	""	""	"0"	""	""	""	""
"00312234"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312235"	""	""	""	"1"	""	"01594"	"{PMID:Das 1994:7977350}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312236"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}"	""	""	""	""	""	"0"	""	""	""	""
"00312237"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312238"	""	""	""	"1"	""	"01594"	"{PMID:Tang 2006:17108763}, {PMID:de Bie 2007:17717039}, {PMID:Vonk 2011:21667063}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312239"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	""	""	""	"0"	""	""	""	""
"00312240"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312241"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312242"	""	""	""	"1"	""	"01594"	"{PMID:Park 2009:19429807}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	"patient 1"
"00312243"	""	""	""	"1"	""	"01594"	"{PMID:Borm 2004:15238919}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312244"	""	""	""	"2"	""	"01594"	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}, {PMID:Møller 2005:15981243}, {PMID:Gu2012:22361452}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312245"	""	""	""	"1"	""	"01594"	"Kirshman 1997, {PMID: Donsante 2007:17496194}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}, {PMID:Vonk 2011:21667063}"	""	""	""	""	""	"0"	""	""	""	""
"00312246"	""	""	""	"1"	""	"01594"	"{PMID:Ambrosini 1999:10401004}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	""	""	""	"0"	""	""	""	""
"00312247"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312248"	""	""	""	"1"	""	"01594"	"{PMID:Kennerson 2010:20170900}"	""	""	""	""	""	"0"	""	""	""	""
"00312249"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 9"
"00312250"	""	""	""	"1"	""	"01594"	"{PMID:Sheela 2005:16098018}"	"single case"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312251"	""	""	""	"1"	""	"01594"	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	"familial, mother carrier, 3 uncles died <2y"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312252"	""	""	""	"2"	""	"01594"	"{PMID:Møller 2000:10739752}, {PMID:Skjørringe 2011:21494555}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312253"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 10"
"00312254"	""	""	""	"2"	""	"01594"	"{PMID:Møller 2000:10739752}, {PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312255"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312256"	""	""	""	"2"	""	"01594"	"{PMID:Møller 2000:10739752}, {PMID:Skjørringe 2011:21494555})"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312257"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312258"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312259"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"Cu treatment from day 28, severe delay"	""	"patient 18"
"00312260"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"Cu treatment from day 10, moderate delay"	""	"patient 19"
"00312261"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312262"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312263"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	"familial, mother carrier"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312264"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312265"	""	""	""	"2"	""	"01594"	"{PMID:Das 1994:7977350}, {PMID:Skjørringe 2011:21494555}, {PMID:Bell 2011:21228398}"	"single case"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312266"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312267"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 11"
"00312268"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1997:8981948}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312269"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 12"
"00312270"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 13"
"00312271"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312272"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312273"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312274"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312275"	""	""	""	"3"	""	"01594"	"{PMID:Ogawa 1999:10319589}, {PMID:Gu 2002:12427520}, {PMID:Skjørringe 2011:21494555}, {PMID:Gu2012:22361452}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312276"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 14"
"00312277"	""	""	""	"3"	""	"01594"	"{PMID:Kaler 2008:18256395}, {PMID:Skjørringe 2011:21494555}, {PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"index Cu treatment from day 8, bright; brother not treated"	""	""
"00312278"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312279"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312280"	""	""	""	"2"	""	"01594"	"{PMID:Qi 1998:9467005}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312281"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 15"
"00312282"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312283"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312284"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"Cu treatment from day 6, severe delay"	""	"patient 20"
"00312285"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"Cu treatment from day 42, moderate delay"	""	"patient 22"
"00312286"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312287"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312288"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312289"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312290"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312291"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312292"	""	""	""	"2"	""	"01594"	"{PMID:Das 1995:7887410}, {PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312293"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312294"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 2010:20652413}"	""	""	""	""	""	"0"	""	"Cu treatment from day 6, severe delay"	""	"patient 21"
"00312295"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312296"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312297"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312298"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 16"
"00312299"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312300"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312301"	""	""	""	"3"	""	"01594"	"{PMID:Levinson 1993:8490656}, {PMID:Das 1995:7887410}, {PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312302"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312303"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312304"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312305"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case, sister carrier"	""	""	""	""	"0"	""	""	""	""
"00312306"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312307"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312308"	""	""	""	"2"	""	"01594"	"{PMID:Das 1994:7977350}, {PMID:Skjørringe 2011:21494555}, {PMID:Bell 2011:21228398}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312309"	""	""	""	"2"	""	"01594"	"{PMID:Watanabe 2005:15693857}, {PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312310"	""	""	""	"1"	""	"01594"	"{PMID:Kaler 1994:7842019}"	""	""	""	""	""	"0"	""	""	""	""
"00312311"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312312"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}, {PMID:Moller 2012:22264391}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312313"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312314"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312315"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	""	""	""	""	""	"0"	""	""	""	""
"00312316"	""	""	""	"1"	""	"01594"	"{PMID:Skjørringe 2011:21494555}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312317"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 31"
"00312318"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 32"
"00312319"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 33"
"00312320"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 34"
"00312321"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312322"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}, {PMID:Moller 2012:22264391}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312323"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312324"	""	""	""	"2"	""	"01594"	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	"familial"	""	""	""	""	"0"	""	"Cu treatment from day14, severe delays; brother not treated"	""	""
"00312325"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	""	""	""	""	""	"0"	""	""	""	"patient 24"
"00312326"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1994b:7807930}, {PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312327"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312328"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312329"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312330"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312331"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312332"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312333"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 26"
"00312334"	""	""	""	"3"	""	"01594"	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2000b:12485192}, {PMID:Paulsen 2006:16826513}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312335"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312336"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"familial, Mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312337"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312338"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312339"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 27"
"00312340"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 1994b:7807930}, {PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312341"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312342"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312343"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	""	""	""	""	""	"0"	""	""	""	""
"00312344"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312345"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312346"	""	""	""	"1"	""	"01594"	"{PMID:Poulsen 2002b:12485192}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312347"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1994a:7815418}, {PMID:7807930:Tümer 1994b}, {PMID:Tümer 2003:14635105}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312348"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312349"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312350"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}, {PMID:Moller 2012:22264391}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312351"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 25"
"00312352"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312353"	""	""	""	"3"	""	"01594"	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2002a:12485191}, {PMID:Poulsen 2002b:12485192}, {PMID:Moller 2012:22264391}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312354"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312355"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312356"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312357"	""	""	""	"1"	""	"01594"	"{PMID:Park 2009:19429807}"	"mother carrier"	""	""	""	""	"0"	""	""	""	"patient 2"
"00312358"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2002b:12485192}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312359"	""	""	""	"2"	""	"01594"	"{PMID:Tümer 2003:14635105}; {PMID:Poulsen 2002a:12485191}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312360"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312361"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312362"	""	""	""	"2"	""	"01594"	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	"familial"	""	""	""	""	"0"	""	"Cu treatment from day 8, severe delays; brother not treated"	""	""
"00312363"	""	""	""	"3"	""	"01594"	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2002a:12485191}, {PMID:Poulsen 2002b:12485192}"	"familial, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312364"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312365"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312366"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312367"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312368"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	""	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312369"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"familial, mother carrier"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312370"	""	""	""	"3"	""	"01594"	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2002a:12485191}, {PMID:Poulsen 2002b:12485192}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312371"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312372"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	""	""	""	""	""	"0"	""	""	""	""
"00312373"	""	""	""	"2"	""	"01594"	"{PMID:Kaler 2010:20652413}, {PMID:Desai 2011:20497190}"	""	""	""	""	""	"0"	""	"Cu treatment from day 5"	""	""
"00312374"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"familial, mother carrier"	""	""	""	""	"0"	""	"index Cu treatment; others not treated"	""	""
"00312375"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312376"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312377"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312378"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	""	""	""	""	""	"0"	""	""	""	""
"00312379"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312380"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312381"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 28"
"00312382"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312383"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312384"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312385"	""	""	""	"2"	""	"01594"	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	"familial"	""	""	""	""	"0"	""	"Index Cu treatment therapy; brother not treated"	""	""
"00312386"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312387"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 2003:14635105}"	"familial, 4y/8y/1y"	""	""	""	""	"0"	""	""	""	""
"00312388"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 29"
"00312389"	""	""	""	"1"	""	"01594"	"{PMID:Moizard 2010:21208200}"	"familial"	""	""	""	""	"0"	""	""	""	"patient 30"
"00312390"	""	""	""	"1"	""	"01594"	"{PMID:Gerdes 1990:2289318}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312391"	""	""	""	"1"	""	"01594"	"{PMID:Kapur 1987:3812600}; {PMID:Verga 1991:2035533}; {PMID:Tümer 1992b:1307248}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312392"	""	""	""	"1"	""	"01594"	"{PMID:Tümer 1992a:1348049}"	"single case, mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312393"	""	""	""	"1"	""	"01594"	"{PMID:Beck 1994:7834894}"	"single case"	""	""	""	""	"0"	""	"Cu treatment"	""	""
"00312394"	""	""	""	"1"	""	"01594"	"{PMID:Sugio 1998:9788559}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312395"	""	""	""	"1"	""	"01594"	"{PMID:Abusaad 1999:10588844}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312396"	""	""	""	"1"	""	"01594"	"{PMID:Sirleto 2009:19092723}"	"single case"	""	""	""	""	"0"	""	""	""	""
"00312397"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312398"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312399"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312400"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312401"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312402"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312403"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312404"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312405"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312406"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312407"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312408"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312409"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312410"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312411"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312412"	""	""	""	"1"	""	"01594"	"Tumer unpublished, {PMID:Gu 2001:11241493}, {PMID:Watanabe 2005:15693857}"	""	""	""	""	""	"0"	""	""	""	""
"00312413"	""	""	""	"1"	""	"01594"	"{PMID:Beggy 1995:7649557}"	""	""	""	""	""	"0"	""	""	""	""
"00312414"	""	""	""	"1"	""	"01594"	"{PMID:Poulsen 2002a:12485191}"	""	""	""	""	""	"0"	""	""	""	""
"00312415"	""	""	""	"1"	""	"01594"	"{PMID:Hahn 2001:11350187}"	""	""	""	""	""	"0"	""	""	""	""
"00312416"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312417"	""	""	""	"1"	""	"01594"	"{PMID:Beggy 1995:7649557}"	""	""	""	""	""	"0"	""	""	""	""
"00312418"	""	""	""	"1"	""	"01594"	"{PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Hahn 2001:11350187}, {PMID:Watanabe 2005:15693857}"	""	""	""	""	""	"0"	""	""	""	""
"00312419"	""	""	""	"1"	""	"01594"	"{PMID:Poulsen 2002a:12485191}"	""	""	""	""	""	"0"	""	""	""	""
"00312420"	""	""	""	"1"	""	"01594"	"Tümer unpublished, {PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Hahn 2001:11350187}, {PMID:Watanabe 2005:15693857}"	""	""	""	""	""	"0"	""	""	""	""
"00312421"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312422"	""	""	""	"1"	""	"01594"	"{PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Hahn 2001:11350187}"	""	""	""	""	""	"0"	""	""	""	""
"00312423"	""	""	""	"1"	""	"01594"	"{PMID:Das 1994:7977350}, {PMID:Tümer 1997:8981948}, {PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Zhang 2008:18272047}"	""	""	""	""	""	"0"	""	""	""	""
"00312424"	""	""	""	"1"	""	"01594"	"{PMID:Hahn 2001:11350187}"	""	""	""	""	""	"0"	""	""	""	""
"00312425"	""	""	""	"1"	""	"01594"	"{PMID:Poulsen 2002a:12485191}"	""	""	""	""	""	"0"	""	""	""	""
"00312426"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312427"	""	""	""	"1"	""	"01594"	"Tumer unpublished, {PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Hahn 2001:11350187}, {PMID:Mak 2002:12088078}, {PMID:Poulsen 2002a:12485191}, {PMID:Watanabe 2005:15693857}"	""	""	""	""	""	"0"	""	""	""	""
"00312428"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2001:11241493}, {PMID:Watanabe 2005:15693857}"	""	""	""	""	""	"0"	""	""	""	""
"00312429"	""	""	""	"1"	""	"01594"	"{PMID:Poulsen 2002a:12485191}"	""	""	""	""	""	"0"	""	""	""	""
"00312430"	""	""	""	"1"	""	"01594"	"{PMID:Poulsen 2002a:12485191}"	""	""	""	""	""	"0"	""	""	""	""
"00312431"	""	""	""	"1"	""	"01594"	"{PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}"	""	""	""	""	""	"0"	""	""	""	""
"00312432"	""	""	""	"1"	""	"01594"	"{PMID:Levinson 1994:8054976}, {PMID:Mercer 1994:8054977}, {PMID:Levinson 1997:9207785}, {PMID:Cunliffe 2001:11386751}"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312433"	""	""	""	"1"	""	"01594"	"J:138687 (The Jackson Laboratory)"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312434"	""	""	""	"1"	""	"01594"	"J:153280 (The Jackson Laboratory)"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312435"	""	""	""	"1"	""	"01594"	"{PMID:Cunliffe 2001:11386751}"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312436"	""	""	""	"1"	""	"01594"	"{PMID:Grimes 1997:9215672}; {PMID:Reed 1997:9147645}; {PMID:La Fontaine 1999:10332039}; {PMID:Llanos 2006:16488577}"	"mouse model"	""	""	""	""	"0"	""	"Restoration of lysyl oxidase activity by Cu treatment. Gene therapy with human ATP7A beneficial and treated males resemble heterozygote females."	""	""
"00312437"	""	""	""	"1"	""	"01594"	"{PMID:Levinson 1994:8054976}, {PMID:Mercer 1994:8054977}, {PMID:Das 1995:7887410}, {PMID:Cecchi 1997:9147646}, {PMID:La Fontaine 1999:0332039}"	"mouse model"	""	""	""	""	"0"	""	"Lysyl oxidase activity not restored by Cu treatment"	""	""
"00312438"	""	""	""	"1"	""	"01594"	"{PMID:Cunliffe 2001:11386751}"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312439"	""	""	""	"1"	""	"01594"	"{PMID:Cecchi 1997:9147646}"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312440"	""	""	""	"1"	""	"01594"	"{PMID:Levinson 1997:9207785}"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312441"	""	""	""	"1"	""	"01594"	"J:133115 (The Jackson Laboratory)"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312442"	""	""	""	"1"	""	"01594"	"{PMID:Cecchi 1997:9147646}, {PMID:Reed 1997:9147645}, {PMID:Kim 2007:17483305}"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312443"	""	""	""	"1"	""	"01594"	"{PMID:Cecchi 1997:9147646}, {PMID:Kim 2007:17483305}"	"dear8LOV2v"	"-"	""	""	""	"0"	""	""	""	""
"00312444"	""	""	""	"1"	""	"01594"	"{PMID:Ohta 1997:9385451}, {PMID:Mori 1997:9166584}, {PMID:Murata 1997:9380433}, {PMID:Kodama 2005:16435190}, {PMID:Kim 2007:17483305}"	"mouse model"	""	""	""	""	"0"	""	"CuCl2 treated males live beyond the normal age limit of 15 days, and are capable of breeding"	""	""
"00312445"	""	""	""	"1"	""	"01594"	"{PMID:Mototani 2006:16338116}"	"mouse model"	""	""	""	""	"0"	""	""	""	""
"00312446"	""	""	""	"1"	""	"01594"	"{PMID:Mendelsohn 2006:16890543}, {PMID:Madsen 2008b:18316734}"	""	""	""	""	""	"0"	""	"Antisense morpholino treatment beneficial"	""	""
"00312447"	""	""	""	"1"	""	"01594"	"{PMID:Madsen 2008a:19008952}"	""	""	""	""	""	"0"	""	""	""	""
"00312448"	""	""	""	"1"	""	"01594"	"{PMID:Madsen 2008b:18316734}"	""	""	""	""	""	"0"	""	"Antisense morpholino treatment beneficial"	""	""
"00312449"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	"IV+oral Cu"	""	""
"00312450"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	"IV+oral Cu"	""	""
"00312451"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	"Cu therapy"	""	""
"00312452"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	"IV+oral Cu"	""	""
"00312453"	""	""	""	"1"	""	"01594"	"Tümer 2011"	""	""	""	""	""	"0"	""	""	""	""
"00312454"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"aunt carrier"	""	""	""	""	"0"	""	""	""	""
"00312455"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312456"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	"Cu-His from 3 mo"	""	""
"00312457"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	"Cu-His since 7.5 mo"	""	""
"00312458"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312459"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312460"	""	""	""	"1"	""	"01594"	"Tümer 2011"	""	""	""	""	""	"0"	""	""	""	""
"00312461"	""	""	""	"1"	""	"01594"	"{PMID:Moller 2012:22264391}"	"familial"	""	""	""	""	"0"	""	""	""	""
"00312462"	""	""	""	"1"	""	"01594"	"Tümer 2011"	""	""	""	""	""	"0"	""	""	""	""
"00312463"	""	""	""	"1"	""	"01594"	"Tümer 2011"	""	""	""	""	""	"0"	""	""	""	""
"00312464"	""	""	""	"1"	""	"01594"	"Tümer 2011"	""	""	""	""	""	"0"	""	""	""	""
"00312465"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312466"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312467"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312468"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"aunt carrier"	""	""	""	""	"0"	""	""	""	""
"00312469"	""	""	""	"1"	""	"01594"	"Tümer 2011"	""	""	""	""	""	"0"	""	""	""	""
"00312470"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312471"	""	""	""	"1"	""	"01594"	"Tümer 2011"	""	""	""	""	""	"0"	""	""	""	""
"00312472"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	"Cu-His"	""	""
"00312473"	""	""	""	"1"	""	"01594"	"Tümer 2011"	"mother carrier"	""	""	""	""	"0"	""	""	""	""
"00312474"	""	""	""	"1"	""	"01594"	"Tümer 2011"	""	""	""	""	""	"0"	""	""	""	""
"00312475"	""	""	""	"1"	""	"01594"	"{PMID:Moller 2012:22264391}, {PMID:Skjørringe 2011:21494555}"	"mother carrier"	"F"	""	""	""	"0"	""	""	""	""
"00312476"	""	""	""	"1"	""	"01594"	"{PMID:Tarpey 2009:19377476}"	""	""	""	""	""	"0"	""	""	""	""
"00312477"	""	""	""	"1"	""	"01594"	"{PMID:Tarpey 2009:19377476}"	""	""	""	""	""	"0"	""	""	""	""
"00312478"	""	""	""	"1"	""	"01594"	"{PMID:Tarpey 2009:19377476}"	""	""	""	""	""	"0"	""	""	""	""
"00312479"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2012:22361452}"	""	""	""	""	""	"0"	""	""	""	"patient 1"
"00312480"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2012:22361452}"	""	""	""	""	""	"0"	""	""	""	"patient 7"
"00312481"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2012:22361452}"	""	""	""	""	""	"0"	""	""	""	"patient 2"
"00312482"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2012:22361452}"	""	""	""	""	""	"0"	""	""	""	"patient 6"
"00312483"	""	""	""	"1"	""	"01594"	"{PMID:Gu 2012:22361452}"	""	""	""	""	""	"0"	""	""	""	"patient 11"
"00312484"	""	""	""	"1"	""	"01594"	"{PMID:Moller 2012:22264391}"	"Female"	""	""	""	""	"0"	""	""	""	""
"00312485"	""	""	""	"1"	""	"01594"	"{PMID:Moller 2012:22264391}"	"Female"	""	""	""	""	"0"	""	""	""	""
"00312486"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312487"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312488"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312489"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312490"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312491"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312492"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312493"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312494"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312495"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312496"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312497"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312498"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312499"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312500"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312501"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312502"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312503"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312504"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312505"	""	""	""	"1"	""	"01594"	"{PMID:Mogensen 2011:22074552}"	""	""	""	""	""	"0"	""	""	""	""
"00312506"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312507"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312508"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312509"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312510"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312511"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312512"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312513"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312514"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312515"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312516"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312517"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312518"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312519"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312520"	""	""	""	"1"	""	"01594"	"{PMID:Gourdon 2011:21716286}"	""	""	""	""	""	"0"	""	""	""	""
"00312521"	""	""	""	"10"	""	"01594"	"{PMID:Das 1994:7977350}"	""	"M"	""	""	""	"0"	""	""	""	""
"00312522"	""	""	""	"10"	""	"01594"	"{PMID:Das 1994:7977350}"	"familial"	"M"	""	""	""	"0"	""	"Classical"	""	""
"00312523"	""	""	""	"4"	""	"01594"	"Tümer 2011"	"mother carrier"	"M"	""	""	""	"0"	""	"Classical"	""	""
"00312524"	""	""	""	"2"	""	"01594"	"Tümer 2011"	""	"M"	""	""	""	"0"	""	""	""	""
"00312525"	""	""	""	"1"	""	"03797"	"Yasmeen S."	""	"M"	""	""	""	"0"	""	""	""	"P1"
"00391599"	""	""	""	"1"	""	"02494"	""	""	"F"	"no"	"Spain"	""	""	""	""	""	"091P"
"00403863"	""	""	""	"1"	""	"00006"	"{PMID:Froukh 2020:32056211}"	"analysis 103 families with neurodevelopmental disorders"	""	""	"Jordan"	""	"0"	""	""	""	"TF039"
"00419521"	""	""	""	"2"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	"2-generation family, patient with carrier mother"	"M"	""	"Greece"	""	"0"	""	""	""	"9102"
"00434637"	""	""	""	"1"	""	"00006"	"{PMID:Deshwar 2023:36990084}"	"2-generation family, 1 affected, unaffected heterozygous carrier mother"	"M"	""	""	""	"0"	""	""	""	"CMC 61"
"00434892"	""	""	""	"1"	""	"04419"	"{PMID:Bhat et al., 2020:32558428}"	"3 y/o Male with Menkes Disease exhibiting connective tissue disturbances resembling EDS."	"M"	"no"	"United States"	""	""	""	""	""	"1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 444
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00000209"	"01157"
"00172347"	"00187"
"00172348"	"00187"
"00183134"	"00187"
"00269887"	"00198"
"00295098"	"00198"
"00295099"	"00198"
"00295100"	"00198"
"00295101"	"00198"
"00296874"	"00198"
"00300034"	"05113"
"00303299"	"05611"
"00312101"	"01069"
"00312102"	"01068"
"00312103"	"01068"
"00312104"	"01068"
"00312105"	"01068"
"00312106"	"01068"
"00312107"	"01068"
"00312108"	"01068"
"00312109"	"01068"
"00312110"	"01068"
"00312111"	"01068"
"00312112"	"01068"
"00312113"	"01068"
"00312114"	"01068"
"00312115"	"01068"
"00312116"	"01068"
"00312117"	"01068"
"00312118"	"01068"
"00312119"	"01068"
"00312120"	"01068"
"00312121"	"01068"
"00312122"	"01068"
"00312123"	"01068"
"00312124"	"01068"
"00312125"	"01068"
"00312126"	"01068"
"00312127"	"01068"
"00312128"	"01068"
"00312129"	"01068"
"00312130"	"01068"
"00312131"	"01068"
"00312132"	"01068"
"00312133"	"01068"
"00312134"	"01068"
"00312135"	"01068"
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"00312137"	"01068"
"00312138"	"01068"
"00312139"	"01068"
"00312140"	"01068"
"00312141"	"01068"
"00312142"	"01068"
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"00312144"	"01069"
"00312145"	"01068"
"00312146"	"01068"
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"00312149"	"01068"
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"00312154"	"01068"
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"00312160"	"01068"
"00312161"	"01068"
"00312162"	"01068"
"00312163"	"01068"
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"00312165"	"01068"
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"00312169"	"01068"
"00312170"	"01068"
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"00312172"	"01068"
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"00312174"	"01068"
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"00312179"	"01068"
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"00312182"	"01068"
"00312183"	"01068"
"00312184"	"01068"
"00312185"	"01068"
"00312186"	"01069"
"00312187"	"01068"
"00312188"	"01068"
"00312189"	"01068"
"00312190"	"01068"
"00312191"	"01068"
"00312192"	"01068"
"00312193"	"01068"
"00312194"	"01068"
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"00312198"	"01068"
"00312199"	"01068"
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"00312203"	"01068"
"00312204"	"01069"
"00312205"	"01068"
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"00312208"	"01068"
"00312209"	"01068"
"00312210"	"01068"
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"00312212"	"01068"
"00312213"	"01068"
"00312214"	"01069"
"00312215"	"05123"
"00312216"	"01068"
"00312217"	"01068"
"00312218"	"01068"
"00312219"	"01068"
"00312220"	"01068"
"00312221"	"01068"
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"00312223"	"01068"
"00312224"	"01068"
"00312225"	"01068"
"00312226"	"01068"
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"00312228"	"01069"
"00312229"	"01068"
"00312230"	"01068"
"00312231"	"01068"
"00312232"	"01068"
"00312233"	"01068"
"00312234"	"01068"
"00312235"	"01068"
"00312236"	"01068"
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"00312238"	"01069"
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"00312243"	"01068"
"00312244"	"01068"
"00312245"	"01068"
"00312246"	"01068"
"00312247"	"01068"
"00312248"	"05123"
"00312249"	"01068"
"00312250"	"01068"
"00312251"	"01068"
"00312252"	"01068"
"00312253"	"01068"
"00312254"	"01068"
"00312255"	"01069"
"00312256"	"01069"
"00312257"	"01068"
"00312258"	"01068"
"00312259"	"01068"
"00312260"	"01068"
"00312261"	"01068"
"00312262"	"01068"
"00312263"	"01068"
"00312264"	"01068"
"00312265"	"01068"
"00312266"	"01068"
"00312267"	"01068"
"00312268"	"01068"
"00312269"	"01068"
"00312270"	"01068"
"00312271"	"01068"
"00312272"	"01068"
"00312273"	"01068"
"00312274"	"01068"
"00312275"	"01068"
"00312276"	"01068"
"00312277"	"01068"
"00312278"	"01068"
"00312279"	"01068"
"00312280"	"01069"
"00312281"	"01068"
"00312282"	"01068"
"00312283"	"01068"
"00312284"	"01068"
"00312285"	"01068"
"00312286"	"01068"
"00312287"	"01068"
"00312288"	"01068"
"00312289"	"01068"
"00312290"	"01068"
"00312291"	"01068"
"00312292"	"01069"
"00312293"	"01069"
"00312294"	"01068"
"00312295"	"01068"
"00312296"	"01068"
"00312297"	"01068"
"00312298"	"01068"
"00312299"	"01068"
"00312300"	"01068"
"00312301"	"01069"
"00312302"	"01068"
"00312303"	"01068"
"00312304"	"01068"
"00312305"	"01068"
"00312306"	"01068"
"00312307"	"01068"
"00312308"	"01068"
"00312309"	"01068"
"00312310"	"01068"
"00312311"	"01069"
"00312312"	"01068"
"00312313"	"01068"
"00312314"	"01068"
"00312315"	"01068"
"00312316"	"01068"
"00312317"	"01068"
"00312318"	"01068"
"00312319"	"01068"
"00312320"	"01068"
"00312321"	"01068"
"00312322"	"01068"
"00312323"	"01068"
"00312324"	"01068"
"00312325"	"01068"
"00312326"	"01068"
"00312327"	"01068"
"00312328"	"01068"
"00312329"	"01068"
"00312330"	"01068"
"00312331"	"01068"
"00312332"	"01068"
"00312333"	"01068"
"00312334"	"01068"
"00312335"	"01068"
"00312336"	"01068"
"00312337"	"01068"
"00312338"	"01068"
"00312339"	"01068"
"00312340"	"01068"
"00312341"	"01068"
"00312342"	"01068"
"00312343"	"01068"
"00312344"	"01068"
"00312345"	"01068"
"00312346"	"01068"
"00312347"	"01068"
"00312348"	"01068"
"00312349"	"01068"
"00312350"	"01068"
"00312351"	"01068"
"00312352"	"01068"
"00312353"	"01068"
"00312354"	"01068"
"00312355"	"01068"
"00312356"	"01068"
"00312357"	"01068"
"00312358"	"01068"
"00312359"	"01068"
"00312360"	"01068"
"00312361"	"01068"
"00312362"	"01068"
"00312363"	"01068"
"00312364"	"01068"
"00312365"	"01068"
"00312366"	"01068"
"00312367"	"01068"
"00312368"	"01068"
"00312369"	"01068"
"00312370"	"01068"
"00312371"	"01068"
"00312372"	"01068"
"00312373"	"01068"
"00312374"	"01068"
"00312375"	"01068"
"00312376"	"01068"
"00312377"	"01068"
"00312378"	"01068"
"00312379"	"01068"
"00312380"	"01068"
"00312381"	"01068"
"00312382"	"01068"
"00312383"	"01068"
"00312384"	"01068"
"00312385"	"01068"
"00312386"	"01068"
"00312387"	"01068"
"00312388"	"01068"
"00312389"	"01068"
"00312390"	"01068"
"00312391"	"01068"
"00312392"	"01068"
"00312393"	"01068"
"00312394"	"01068"
"00312395"	"01068"
"00312396"	"01068"
"00312397"	"00000"
"00312398"	"00000"
"00312399"	"00000"
"00312400"	"00000"
"00312401"	"00000"
"00312402"	"00000"
"00312403"	"00000"
"00312404"	"00000"
"00312405"	"00000"
"00312406"	"00000"
"00312407"	"00000"
"00312408"	"00000"
"00312409"	"00000"
"00312410"	"00000"
"00312411"	"00000"
"00312412"	"00000"
"00312413"	"00000"
"00312414"	"00000"
"00312415"	"00000"
"00312416"	"00000"
"00312417"	"00000"
"00312418"	"00000"
"00312419"	"00000"
"00312420"	"00000"
"00312421"	"00000"
"00312422"	"00000"
"00312423"	"00000"
"00312424"	"00000"
"00312425"	"00000"
"00312426"	"00000"
"00312427"	"00000"
"00312428"	"00000"
"00312429"	"00000"
"00312430"	"00000"
"00312431"	"00000"
"00312432"	"00198"
"00312433"	"00198"
"00312434"	"00198"
"00312435"	"00198"
"00312436"	"00198"
"00312437"	"00198"
"00312438"	"00198"
"00312439"	"00198"
"00312440"	"00198"
"00312441"	"00198"
"00312442"	"00198"
"00312443"	"00198"
"00312444"	"00198"
"00312445"	"00198"
"00312446"	"00198"
"00312447"	"00198"
"00312448"	"00198"
"00312449"	"01068"
"00312450"	"01068"
"00312451"	"01068"
"00312452"	"01068"
"00312453"	"01068"
"00312454"	"01068"
"00312455"	"01068"
"00312456"	"01068"
"00312457"	"01068"
"00312458"	"01068"
"00312459"	"01068"
"00312460"	"01068"
"00312461"	"01068"
"00312462"	"01068"
"00312463"	"01068"
"00312464"	"01068"
"00312465"	"01068"
"00312466"	"01068"
"00312467"	"01068"
"00312468"	"01068"
"00312469"	"01068"
"00312470"	"01068"
"00312471"	"01068"
"00312472"	"01068"
"00312473"	"01068"
"00312474"	"01068"
"00312475"	"01068"
"00312476"	"00139"
"00312477"	"00139"
"00312478"	"00139"
"00312479"	"01068"
"00312480"	"01068"
"00312481"	"01068"
"00312482"	"01068"
"00312483"	"01068"
"00312484"	"01068"
"00312485"	"01068"
"00312486"	"01068"
"00312487"	"01068"
"00312488"	"01068"
"00312489"	"01068"
"00312490"	"01068"
"00312491"	"01068"
"00312492"	"01068"
"00312493"	"01068"
"00312494"	"01068"
"00312495"	"01068"
"00312496"	"01068"
"00312497"	"01068"
"00312498"	"01068"
"00312499"	"01068"
"00312500"	"01068"
"00312501"	"01068"
"00312502"	"01068"
"00312503"	"01068"
"00312504"	"01068"
"00312505"	"01068"
"00312506"	"00198"
"00312507"	"00198"
"00312508"	"00198"
"00312509"	"00198"
"00312510"	"00198"
"00312511"	"00198"
"00312512"	"00198"
"00312513"	"00198"
"00312514"	"00198"
"00312515"	"00198"
"00312516"	"00198"
"00312517"	"00198"
"00312518"	"00198"
"00312519"	"00198"
"00312520"	"00198"
"00312521"	"01068"
"00312522"	"01068"
"00312523"	"01068"
"00312524"	"01068"
"00312525"	"01069"
"00391599"	"00198"
"00403863"	"05611"
"00419521"	"00198"
"00434637"	"05611"
"00434892"	"00169"
"00434892"	"01068"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00169, 00187, 00198, 01068, 01069, 01070, 01157, 05113, 05123, 05611
## Count = 404
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{Phenotype/Hearing/Problems}}"	"{{Phenotype/Enzyme/CreatineKinase}}"	"{{Phenotype/Muscle/Electromyography}}"	"{{Phenotype/Muscle/Biopsy}}"	"{{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}}"
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	""	""	""	""	""	"3w"	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	""	""	""	""	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000081811"	"00198"	"00000108"	"00006"	"Isolated (sporadic)"	""	"developmental delay, intellectual disability, partial agenesis of corpus callosum, behavioral issues, attention deficit hyperactivity disorder, bilateral hearing loss, dysmorphic features, joint hypermobility, hypopigmented macules"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000137211"	"00187"	"00172347"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000137212"	"00187"	"00172348"	"00124"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"MRX"	""
"0000143888"	"00187"	"00183134"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mental retardation"	""
"0000207683"	"00198"	"00269887"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Seizures (HP:0001250); Ataxia (HP:0001251); Congenital finger flexion contractures (HP:0005879)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000224271"	"00198"	"00296874"	"01164"	"Unknown"	""	"Abnormality of movement (HP:0100022); Motor tics (HP:0100034); Phonic tics (HP:0100035); Intellectual disability (HP:0001249); Abnormality of nervous system physiology (HP:0012638); Parkinsonism (HP:0001300); Abnormality of extrapyramidal motor function (HP:0002071); Abnormality of refraction (HP:0000539); Hypermetropia (HP:0000540); Abnormality of the sternum (HP:0000766); Pectus excavatum (HP:0000767)"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000227355"	"05113"	"00300034"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"CMT1"	""
"0000230375"	"05611"	"00303299"	"00006"	"Isolated (sporadic)"	"18y"	"height 165.5 cm (SD −1.51), weight 56.9kg (SD −1.25), OFC 59 cm (SD 1.42); severemild developmental delay/intellectual disability; 4y-5y-walk; 5y-first words, speech 10 words; 10m-intractable seizures (myoclonic/tonic); MRI possible focal cortical dysplasia, volume loss; muscular hypotonia; autism, aggression, hyperactivity; multicystic kidneys; cryptorchidism; s/p pyloroplasty, nissen fundoplication, G-tube; kyphosis, scoliosis; sleep apnea, chronic lung disease, bronchopulmonary dysplasia, Sotos syndrome"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000237232"	"01069"	"00312101"	"01594"	"-"	""	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237233"	"01068"	"00312102"	"01594"	"-"	">5y"	"Classical, horns at 2.5y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237234"	"01068"	"00312103"	"01594"	"-"	"3y1m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237235"	"01068"	"00312104"	"01594"	"-"	"8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237236"	"01068"	"00312105"	"01594"	"-"	"12y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237237"	"01068"	"00312106"	"01594"	"-"	"10y3m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237238"	"01068"	"00312107"	"01594"	"-"	"9y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237239"	"01068"	"00312108"	"01594"	"-"	"1y5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237240"	"01068"	"00312109"	"01594"	"-"	"10m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237241"	"01068"	"00312110"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237242"	"01068"	"00312111"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237243"	"01068"	"00312112"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237244"	"01068"	"00312113"	"01594"	"-"	"3y3m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237245"	"01068"	"00312114"	"01594"	"-"	"8y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237246"	"01068"	"00312115"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237247"	"01068"	"00312116"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237248"	"01068"	"00312117"	"01594"	"-"	">3y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237249"	"01068"	"00312118"	"01594"	"-"	"43m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237250"	"01068"	"00312119"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237251"	"01068"	"00312120"	"01594"	"-"	"1y1m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237252"	"01068"	"00312121"	"01594"	"-"	"3y3m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237253"	"01068"	"00312122"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237254"	"01068"	"00312123"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237255"	"01068"	"00312124"	"01594"	"-"	"20y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237256"	"01068"	"00312125"	"01594"	"-"	"11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237257"	"01068"	"00312126"	"01594"	"-"	"5m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237258"	"01068"	"00312127"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237259"	"01068"	"00312128"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237260"	"01068"	"00312129"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237261"	"01068"	"00312130"	"01594"	"-"	"6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237262"	"01068"	"00312131"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237263"	"01068"	"00312132"	"01594"	"-"	"4m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237264"	"01068"	"00312133"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237265"	"01068"	"00312134"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237266"	"01068"	"00312135"	"01594"	"-"	"4y8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237267"	"01068"	"00312136"	"01594"	"-"	"1y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237268"	"01068"	"00312137"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237269"	"01068"	"00312138"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237270"	"01068"	"00312139"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237271"	"01068"	"00312140"	"01594"	"-"	">11y"	"Classical, half-brother died 14m"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237272"	"01068"	"00312141"	"01594"	"-"	"10m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237273"	"01068"	"00312142"	"01594"	"-"	""	"Classical; index 4y8m, brother 7m"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237274"	"01068"	"00312143"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237275"	"01069"	"00312144"	"01594"	"-"	">8y"	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237276"	"01068"	"00312145"	"01594"	"-"	"<3y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237277"	"01068"	"00312146"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237278"	"01068"	"00312147"	"01594"	"-"	">2y7m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237279"	"01068"	"00312148"	"01594"	"-"	""	"Sibling Classical; Index alive 11y6m; sibling died 6m"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237280"	"01068"	"00312149"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237281"	"01068"	"00312150"	"01594"	"-"	"1y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237282"	"01068"	"00312151"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237283"	"01068"	"00312152"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237284"	"01068"	"00312153"	"01594"	"-"	"2y5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237285"	"01068"	"00312154"	"01594"	"-"	"2y6m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237286"	"01068"	"00312155"	"01594"	"-"	"1y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237287"	"01068"	"00312156"	"01594"	"-"	"6y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237288"	"01068"	"00312157"	"01594"	"-"	"8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237289"	"01068"	"00312158"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237290"	"01068"	"00312159"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237291"	"01068"	"00312160"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237292"	"01068"	"00312161"	"01594"	"-"	"1y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237293"	"01068"	"00312162"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237294"	"01068"	"00312163"	"01594"	"-"	"1y1m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237295"	"01068"	"00312164"	"01594"	"-"	">8y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237296"	"01068"	"00312165"	"01594"	"-"	"1y11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237297"	"01068"	"00312166"	"01594"	"-"	"1y5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237298"	"01068"	"00312167"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237299"	"01068"	"00312168"	"01594"	"-"	"13m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237300"	"01068"	"00312169"	"01594"	"-"	"1y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237301"	"01068"	"00312170"	"01594"	"-"	"<2y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237302"	"01068"	"00312171"	"01594"	"-"	"3y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237303"	"01068"	"00312172"	"01594"	"-"	"27d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237304"	"01068"	"00312173"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237305"	"01068"	"00312174"	"01594"	"-"	"32m21d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237306"	"01068"	"00312175"	"01594"	"-"	">12y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237307"	"01068"	"00312176"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237308"	"01068"	"00312177"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237309"	"01068"	"00312178"	"01594"	"-"	"1y11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237310"	"01068"	"00312179"	"01594"	"-"	"17m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237311"	"01068"	"00312180"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237312"	"01068"	"00312181"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237313"	"01068"	"00312182"	"01594"	"-"	""	"Two half brothers Classical; Index alive2y; two half brothers died 1y6m and 3y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237314"	"01068"	"00312183"	"01594"	"-"	">3y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237315"	"01068"	"00312184"	"01594"	"-"	">9y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237316"	"01068"	"00312185"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237317"	"01069"	"00312186"	"01594"	"-"	"27y"	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237318"	"01068"	"00312187"	"01594"	"-"	""	"mild died at 8y and 4y; classical 2y, variable expression: 2 mild and 1 Classical male in the same family"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237319"	"01068"	"00312188"	"01594"	"-"	">9y4m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237320"	"01068"	"00312189"	"01594"	"-"	">5y3m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237321"	"01068"	"00312190"	"01594"	"-"	""	"Maternal uncle Classical LS; Index alive 8y; maternal uncle died 14y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237322"	"01068"	"00312191"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237323"	"01068"	"00312192"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237324"	"01068"	"00312193"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237325"	"01068"	"00312194"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237326"	"01068"	"00312195"	"01594"	"-"	""	"Classical, V-2 alive 3y ;V-4 died 5m15d"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237327"	"01068"	"00312196"	"01594"	"-"	"1y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237328"	"01068"	"00312197"	"01594"	"-"	"3y9m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237329"	"01068"	"00312198"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237330"	"01068"	"00312199"	"01594"	"-"	">2y6m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237331"	"01068"	"00312200"	"01594"	"-"	">3y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237332"	"01068"	"00312201"	"01594"	"-"	">7m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237333"	"01068"	"00312202"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237334"	"01068"	"00312203"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237335"	"01069"	"00312204"	"01594"	"-"	">19y"	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237336"	"01068"	"00312205"	"01594"	"-"	">13y"	"Moderate"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237337"	"01068"	"00312206"	"01594"	"-"	"1y4m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237338"	"01068"	"00312207"	"01594"	"-"	""	"Classical; index 6m, cousin 2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237339"	"01068"	"00312208"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237340"	"01068"	"00312209"	"01594"	"-"	""	"Classical; index 5y6m, brother 2y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237341"	"01068"	"00312210"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237342"	"01068"	"00312211"	"01594"	"-"	"2y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237343"	"01068"	"00312212"	"01594"	"-"	"1y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237344"	"01068"	"00312213"	"01594"	"-"	">17y6m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237345"	"01069"	"00312214"	"01594"	"-"	""	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237346"	"05123"	"00312215"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"SMAX3"	"spinal muscular atrophy"	""
"0000237347"	"01068"	"00312216"	"01594"	"-"	"13y6m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237348"	"01068"	"00312217"	"01594"	"-"	">20m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237349"	"01068"	"00312218"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237350"	"01068"	"00312219"	"01594"	"-"	">2y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237351"	"01068"	"00312220"	"01594"	"-"	""	"Mild"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237352"	"01068"	"00312221"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237353"	"01068"	"00312222"	"01594"	"-"	">18y6m"	"Moderate"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237354"	"01068"	"00312223"	"01594"	"-"	"5y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237355"	"01068"	"00312224"	"01594"	"-"	"1y2m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237356"	"01068"	"00312225"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237357"	"01068"	"00312226"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237358"	"01068"	"00312227"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237359"	"01069"	"00312228"	"01594"	"-"	""	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237360"	"01068"	"00312229"	"01594"	"-"	"4y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237361"	"01068"	"00312230"	"01594"	"-"	"1y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237362"	"01068"	"00312231"	"01594"	"-"	"1y10m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237363"	"01068"	"00312232"	"01594"	"-"	""	"Mild"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237364"	"01068"	"00312233"	"01594"	"-"	">15y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237365"	"01068"	"00312234"	"01594"	"-"	"3y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237366"	"01068"	"00312235"	"01594"	"-"	">4y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237367"	"01068"	"00312236"	"01594"	"-"	"5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237368"	"01068"	"00312237"	"01594"	"-"	"10m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237369"	"01069"	"00312238"	"01594"	"-"	""	"OHS brothers, alive 13y/6y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237370"	"01068"	"00312239"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237371"	"01068"	"00312240"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237372"	"01068"	"00312241"	"01594"	"-"	"1y5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237373"	"01068"	"00312242"	"01594"	"-"	"14m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237374"	"01068"	"00312243"	"01594"	"-"	""	"Variable expression:OHS and CS in the same family: Index and brother Classical; uncle OHS; Index alive 4y; died 2y; uncle alive 38y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"occipital horn syndrome/Menkes disease"	""
"0000237375"	"01068"	"00312244"	"01594"	"-"	"19m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237376"	"01068"	"00312245"	"01594"	"-"	""	"OHS 19y; aypical 13y, variable expression in the same family, OHS and atypical"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"occipital horn syndrome/Menkes disease"	""
"0000237377"	"01068"	"00312246"	"01594"	"-"	">20y"	"Mild"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237378"	"01068"	"00312247"	"01594"	"-"	"1y11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237379"	"05123"	"00312248"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"SMAX3"	"spinal muscular atrophy"	""
"0000237380"	"01068"	"00312249"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237381"	"01068"	"00312250"	"01594"	"-"	">4y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237382"	"01068"	"00312251"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237383"	"01068"	"00312252"	"01594"	"-"	"1y9m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237384"	"01068"	"00312253"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237385"	"01068"	"00312254"	"01594"	"-"	"2y9m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237386"	"01069"	"00312255"	"01594"	"-"	">12y"	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237387"	"01069"	"00312256"	"01594"	"-"	">26y6m"	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237388"	"01068"	"00312257"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237389"	"01068"	"00312258"	"01594"	"-"	"3y11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237390"	"01068"	"00312259"	"01594"	"-"	"18m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237391"	"01068"	"00312260"	"01594"	"-"	">6m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237392"	"01068"	"00312261"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237393"	"01068"	"00312262"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237394"	"01068"	"00312263"	"01594"	"-"	"2y11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237395"	"01068"	"00312264"	"01594"	"-"	"7m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237396"	"01068"	"00312265"	"01594"	"-"	"1y11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237397"	"01068"	"00312266"	"01594"	"-"	">4y9m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237398"	"01068"	"00312267"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237399"	"01068"	"00312268"	"01594"	"-"	"3y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237400"	"01068"	"00312269"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237401"	"01068"	"00312270"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237402"	"01068"	"00312271"	"01594"	"-"	"2y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237403"	"01068"	"00312272"	"01594"	"-"	"1y8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237404"	"01068"	"00312273"	"01594"	"-"	"9m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237405"	"01068"	"00312274"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237406"	"01068"	"00312275"	"01594"	"-"	"45m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237407"	"01068"	"00312276"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237408"	"01068"	"00312277"	"01594"	"-"	""	"Brother Classical; Index alive7.2y; Brother alive 8y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237409"	"01068"	"00312278"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237410"	"01068"	"00312279"	"01594"	"-"	"5y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237411"	"01069"	"00312280"	"01594"	"-"	">29y"	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237412"	"01068"	"00312281"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237413"	"01068"	"00312282"	"01594"	"-"	"10m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237414"	"01068"	"00312283"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237415"	"01068"	"00312284"	"01594"	"-"	">3y"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237416"	"01068"	"00312285"	"01594"	"-"	"6m15d"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237417"	"01068"	"00312286"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237418"	"01068"	"00312287"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237419"	"01068"	"00312288"	"01594"	"-"	"11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237420"	"01068"	"00312289"	"01594"	"-"	"3y4m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237421"	"01068"	"00312290"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237422"	"01068"	"00312291"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237423"	"01069"	"00312292"	"01594"	"-"	">14y"	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237424"	"01069"	"00312293"	"01594"	"-"	""	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237425"	"01068"	"00312294"	"01594"	"-"	"2y7m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237426"	"01068"	"00312295"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237427"	"01068"	"00312296"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237428"	"01068"	"00312297"	"01594"	"-"	"1y5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237429"	"01068"	"00312298"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237430"	"01068"	"00312299"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237431"	"01068"	"00312300"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237432"	"01069"	"00312301"	"01594"	"-"	">15y"	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237433"	"01068"	"00312302"	"01594"	"-"	"1y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237434"	"01068"	"00312303"	"01594"	"-"	"5m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237435"	"01068"	"00312304"	"01594"	"-"	"11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237436"	"01068"	"00312305"	"01594"	"-"	"6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237437"	"01068"	"00312306"	"01594"	"-"	"3y9m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237438"	"01068"	"00312307"	"01594"	"-"	"2y5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237439"	"01068"	"00312308"	"01594"	"-"	"11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237440"	"01068"	"00312309"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237441"	"01068"	"00312310"	"01594"	"-"	""	"Moderate/OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237442"	"01069"	"00312311"	"01594"	"-"	"31y"	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000237443"	"01068"	"00312312"	"01594"	"-"	"7y9m"	"Atypical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237444"	"01068"	"00312313"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237445"	"01068"	"00312314"	"01594"	"-"	"3y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237446"	"01068"	"00312315"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237447"	"01068"	"00312316"	"01594"	"-"	"11y"	"Moderate"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237448"	"01068"	"00312317"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237449"	"01068"	"00312318"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237450"	"01068"	"00312319"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237451"	"01068"	"00312320"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237452"	"01068"	"00312321"	"01594"	"-"	"14y"	"Mild"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237453"	"01068"	"00312322"	"01594"	"-"	"2y1m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237454"	"01068"	"00312323"	"01594"	"-"	">8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237455"	"01068"	"00312324"	"01594"	"-"	">8y7m"	"brother classical LS, died 7y"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237456"	"01068"	"00312325"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237457"	"01068"	"00312326"	"01594"	"-"	"1y10m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237458"	"01068"	"00312327"	"01594"	"-"	"7m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237459"	"01068"	"00312328"	"01594"	"-"	"<2y4m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237460"	"01068"	"00312329"	"01594"	"-"	"3y8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237461"	"01068"	"00312330"	"01594"	"-"	">2y4m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237462"	"01068"	"00312331"	"01594"	"-"	"4m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237463"	"01068"	"00312332"	"01594"	"-"	"1y11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237464"	"01068"	"00312333"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237465"	"01068"	"00312334"	"01594"	"-"	""	"Moderate"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237466"	"01068"	"00312335"	"01594"	"-"	"7y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237467"	"01068"	"00312336"	"01594"	"-"	"7m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237468"	"01068"	"00312337"	"01594"	"-"	"3m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237469"	"01068"	"00312338"	"01594"	"-"	"2y2m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237470"	"01068"	"00312339"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237471"	"01068"	"00312340"	"01594"	"-"	"1y2m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237472"	"01068"	"00312341"	"01594"	"-"	"18y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237473"	"01068"	"00312342"	"01594"	"-"	"8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237474"	"01068"	"00312343"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237475"	"01068"	"00312344"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237476"	"01068"	"00312345"	"01594"	"-"	"6m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237477"	"01068"	"00312346"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237478"	"01068"	"00312347"	"01594"	"-"	"2y2m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237479"	"01068"	"00312348"	"01594"	"-"	"12y2m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237480"	"01068"	"00312349"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237481"	"01068"	"00312350"	"01594"	"-"	"1y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237482"	"01068"	"00312351"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237483"	"01068"	"00312352"	"01594"	"-"	"12m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237484"	"01068"	"00312353"	"01594"	"-"	"8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237485"	"01068"	"00312354"	"01594"	"-"	"2m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237486"	"01068"	"00312355"	"01594"	"-"	"6m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237487"	"01068"	"00312356"	"01594"	"-"	"9m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237488"	"01068"	"00312357"	"01594"	"-"	"5y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237489"	"01068"	"00312358"	"01594"	"-"	"1y11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237490"	"01068"	"00312359"	"01594"	"-"	"1y5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237491"	"01068"	"00312360"	"01594"	"-"	"8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237492"	"01068"	"00312361"	"01594"	"-"	"9m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237493"	"01068"	"00312362"	"01594"	"-"	">8y1m"	"brother classical, died 9m"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237494"	"01068"	"00312363"	"01594"	"-"	"1y8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237495"	"01068"	"00312364"	"01594"	"-"	">22m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237496"	"01068"	"00312365"	"01594"	"-"	"1y3m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237497"	"01068"	"00312366"	"01594"	"-"	"4y8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237498"	"01068"	"00312367"	"01594"	"-"	"1y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237499"	"01068"	"00312368"	"01594"	"-"	"<1y9m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237500"	"01068"	"00312369"	"01594"	"-"	"1y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237501"	"01068"	"00312370"	"01594"	"-"	"5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237502"	"01068"	"00312371"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237503"	"01068"	"00312372"	"01594"	"-"	"1y8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237504"	"01068"	"00312373"	"01594"	"-"	"5m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237505"	"01068"	"00312374"	"01594"	"-"	""	"Classical; index 17y, two other members 3m,1m,"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237506"	"01068"	"00312375"	"01594"	"-"	"2y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237507"	"01068"	"00312376"	"01594"	"-"	"10m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237508"	"01068"	"00312377"	"01594"	"-"	"2y3m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237509"	"01068"	"00312378"	"01594"	"-"	"7m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237510"	"01068"	"00312379"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237511"	"01068"	"00312380"	"01594"	"-"	"4y6m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237512"	"01068"	"00312381"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237513"	"01068"	"00312382"	"01594"	"-"	"2y8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237514"	"01068"	"00312383"	"01594"	"-"	"8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237515"	"01068"	"00312384"	"01594"	"-"	"1y"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237516"	"01068"	"00312385"	"01594"	"-"	""	"Brother Classical; index alive 1y6m; brother died 1y3m"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237517"	"01068"	"00312386"	"01594"	"-"	"1y5m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237518"	"01068"	"00312387"	"01594"	"-"	""	"Variable expression: Classical and LS in the same family"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237519"	"01068"	"00312388"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237520"	"01068"	"00312389"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237521"	"01068"	"00312390"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237522"	"01068"	"00312391"	"01594"	"-"	">11m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237523"	"01068"	"00312392"	"01594"	"-"	"19m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237524"	"01068"	"00312393"	"01594"	"-"	">12m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237525"	"01068"	"00312394"	"01594"	"-"	">4y8m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237526"	"01068"	"00312395"	"01594"	"-"	"18m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237527"	"01068"	"00312396"	"01594"	"-"	">2y2m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237528"	"00198"	"00312432"	"01594"	"-"	"<0d"	"died in utero , bending and thickening of the ribs, and distortion of the pectoral and pelvic girdles and limb bones"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled dappled"	""
"0000237529"	"00198"	"00312433"	"01594"	"-"	""	"prenatal lethality; males that survive to birth die within 20days, surviving males lack pigment except of the extremities"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled 2 Bruce Beutler (Tigrou)"	""
"0000237530"	"00198"	"00312434"	"01594"	"-"	""	"alive, brown coat color with normal pigmentation of the skin and eyes"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled 3 Bruce Beutler (Brown)"	""
"0000237531"	"00198"	"00312435"	"01594"	"-"	"<0d"	"died in utero"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled candy"	""
"0000237532"	"00198"	"00312436"	"01594"	"-"	""	"males usually die when 2w old, but few have lived and been fertile; almost devoid of pigment except in the eyes and ears. The vibrissae are strongly curled, and the coat is wavy. Behavioral abnormality consisting of a slight tremor, uncoordinated gait, and clasping of the hindfeet when held up by the tail."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled brindled"	""
"0000237533"	"00198"	"00312437"	"01594"	"-"	""	"alive, abnormal morphology of aorta (aneurysms in >90% by 6 months of age); pale coat color; tremors; lethargy; hunched posture; hypoactivity; decreased body size; pulmonary emphysema; diluted coat color, curly vibrissae, coarse hair; abnormal hindlimb morphology"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled blotchy"	""
"0000237534"	"00198"	"00312438"	"01594"	"-"	"<0d"	"died in utero"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled spot"	""
"0000237535"	"00198"	"00312439"	"01594"	"-"	"<0d"	"died in utero"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled Oak Ridge 1Pub"	""
"0000237536"	"00198"	"00312440"	"01594"	"-"	""	"alive, fertile, have pale silvery coat"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled pewter"	""
"0000237537"	"00198"	"00312441"	"01594"	"-"	"<0d"	"died in utero"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled Bruce Beutler (Tigrou-like)"	""
"0000237538"	"00198"	"00312442"	"01594"	"-"	""	"Low viability, Infertile; death can occur within several days of birth; some survive several months; abnormal aorta morphology, aortic aneurysm; infertility; abnormal coat pigmentation; elastic skin with decreased tensile strength"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled viable brindled"	""
"0000237539"	"00198"	"00312443"	"01594"	"-"	"<0d"	"died in utero"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled 11 Harwell"	""
"0000237540"	"00198"	"00312444"	"01594"	"-"	""	"Resemble brindled. nearly white coat color and curly whiskers, with ataxia and tonic seizures beginning about day 8 and loss of weight beginning about day 10. Death occurs about day 15.; curly vibrissae noticable by 3 days of age; ataxia and tonic seizures after 10 days of age; cachexia, growth rate reduced;"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled macular"	""
"0000237541"	"00198"	"00312445"	"01594"	"-"	""	"yolk sac hemorrhage with irregular attachment between vascular endothelium and mesoderm"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"mottled tohoku"	""
"0000237542"	"00198"	"00312446"	"01594"	"-"	""	"alive, notochord abnormalities, lack of melanin (loss of pigmentation), enlarged ventricle"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"calamity"	""
"0000237543"	"00198"	"00312447"	"01594"	"-"	""	"alive, variable vertebral defects, loss of pigmentation skeletal defects affected by developmental copper availability."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"calamity"	""
"0000237544"	"00198"	"00312448"	"01594"	"-"	""	"alive, notochord abnormalities, lack of melanin (loss of pigmentation), enlarged ventricle"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"calamity"	""
"0000237545"	"01068"	"00312449"	"01594"	"-"	"7y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237546"	"01068"	"00312450"	"01594"	"-"	">11y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237547"	"01068"	"00312451"	"01594"	"-"	">9y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237548"	"01068"	"00312452"	"01594"	"-"	">9y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237549"	"01068"	"00312453"	"01594"	"-"	"14y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237550"	"01068"	"00312454"	"01594"	"-"	"1y7m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237551"	"01068"	"00312455"	"01594"	"-"	"1y6m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237552"	"01068"	"00312456"	"01594"	"-"	"9y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237553"	"01068"	"00312457"	"01594"	"-"	">13y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237554"	"01068"	"00312458"	"01594"	"-"	"1y7m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237555"	"01068"	"00312459"	"01594"	"-"	"3y3m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237556"	"01068"	"00312460"	"01594"	"-"	"5y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237557"	"01068"	"00312461"	"01594"	"-"	"7y6m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237558"	"01068"	"00312462"	"01594"	"-"	"5y6m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237559"	"01068"	"00312463"	"01594"	"-"	"1y5m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237560"	"01068"	"00312464"	"01594"	"-"	"3y6m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237561"	"01068"	"00312465"	"01594"	"-"	""	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237562"	"01068"	"00312466"	"01594"	"-"	"4y10m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237563"	"01068"	"00312467"	"01594"	"-"	">6y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237564"	"01068"	"00312468"	"01594"	"-"	"<5y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237565"	"01068"	"00312469"	"01594"	"-"	""	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237566"	"01068"	"00312470"	"01594"	"-"	""	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237567"	"01068"	"00312471"	"01594"	"-"	"13y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237568"	"01068"	"00312472"	"01594"	"-"	">5y6m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237569"	"01068"	"00312473"	"01594"	"-"	"2y"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237570"	"01068"	"00312474"	"01594"	"-"	"8m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237571"	"01068"	"00312475"	"01594"	"-"	"6m"	"CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237572"	"00139"	"00312476"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"X-linked mental retardation"	""
"0000237573"	"00139"	"00312477"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"X-linked mental retardation"	""
"0000237574"	"00139"	"00312478"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"X-linked mental retardation"	""
"0000237575"	"01068"	"00312479"	"01594"	"-"	"17m"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237576"	"01068"	"00312480"	"01594"	"-"	"22m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237577"	"01068"	"00312481"	"01594"	"-"	"2y14m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237578"	"01068"	"00312482"	"01594"	"-"	"4y9m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237579"	"01068"	"00312483"	"01594"	"-"	"22m15d"	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237580"	"01068"	"00312484"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237581"	"01068"	"00312485"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237582"	"01068"	"00312486"	"01594"	"-"	""	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237583"	"01068"	"00312487"	"01594"	"-"	""	"Atypical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237584"	"01068"	"00312488"	"01594"	"-"	""	"Atypical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237585"	"01068"	"00312489"	"01594"	"-"	""	"Atypical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237586"	"01068"	"00312490"	"01594"	"-"	""	"Atypical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237587"	"01068"	"00312491"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237588"	"01068"	"00312492"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237589"	"01068"	"00312493"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237590"	"01068"	"00312494"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237591"	"01068"	"00312495"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237592"	"01068"	"00312496"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237593"	"01068"	"00312497"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237594"	"01068"	"00312498"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237595"	"01068"	"00312499"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237596"	"01068"	"00312500"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237597"	"01068"	"00312501"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237598"	"01068"	"00312502"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237599"	"01068"	"00312503"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237600"	"01068"	"00312504"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237601"	"01068"	"00312505"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237602"	"00198"	"00312506"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237603"	"00198"	"00312507"	"01594"	"-"	""	"MD-CS, Long survival"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237604"	"00198"	"00312508"	"01594"	"-"	""	"Atypical"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237605"	"00198"	"00312510"	"01594"	"-"	""	"Mild"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237606"	"00198"	"00312511"	"01594"	"-"	""	"Moderate"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237607"	"00198"	"00312512"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237608"	"00198"	"00312513"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237609"	"00198"	"00312514"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237610"	"00198"	"00312515"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237611"	"00198"	"00312516"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237612"	"00198"	"00312517"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237613"	"00198"	"00312518"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237614"	"00198"	"00312519"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237615"	"00198"	"00312520"	"01594"	"-"	""	"MD-CS"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000237616"	"01068"	"00312521"	"01594"	"-"	""	"15 months"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237617"	"01068"	"00312522"	"01594"	"-"	""	"22 months"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237618"	"01068"	"00312523"	"01594"	"-"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237619"	"01068"	"00312524"	"01594"	"-"	""	"Classical"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Menkes"	"Menkes disease"	""
"0000237620"	"01069"	"00312525"	"03797"	"-"	""	"OHS"	""	""	""	""	""	""	""	""	""	""	""	""	""	"OHS"	"occipital horn syndrome"	""
"0000296543"	"05611"	"00403863"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000310802"	"00198"	"00419521"	"02300"	"Familial, X-linked recessive"	"11m"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"congenital/syndromic abnormality"	""
"0000324887"	"05611"	"00434637"	"00006"	"Familial, X-linked recessive"	""	"global developmental dela, spastic tetraplegia, hemophagocytic lymphohistiocytosis"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000325132"	"00169"	"00434892"	"04419"	"Unknown"	"03y"	"Connective tissue disturbances and peculiar hair."	""	""	"normal"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325133"	"01068"	"00434892"	"04419"	"Unknown"	"03y"	"Irritability, hypotonia, kinky hair and developmental regression. Low Copper levels. Mild hypoplasia of cerebellar vermis and tortuous vessels."	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 452
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000040"	"00000040"	"1"	"00004"	""	"2012-05-11 13:18:46"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000041"	"00000041"	"1"	"00004"	""	"2012-05-11 13:18:46"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000093"	"00000093"	"1"	"00004"	""	"2012-05-11 13:19:20"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000108"	"00000108"	"1"	""	""	"2012-05-11 13:22:12"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000109"	"00000109"	"1"	""	""	"2012-05-11 13:22:12"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000110"	"00000110"	"1"	""	""	"2012-05-11 13:22:13"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000034915"	"00034845"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000034916"	"00034846"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000034917"	"00034847"	"1"	"01164"	"00008"	"2015-04-02 13:01:39"	""	""	"SEQ"	"DNA"	""	""
"0000173230"	"00172347"	"1"	"00124"	"00006"	"2009-04-08 14:01:02"	"00006"	"2009-05-19 12:34:20"	"SEQ"	"DNA"	""	""
"0000173231"	"00172348"	"1"	"00124"	"00006"	"2009-04-08 14:01:02"	"00006"	"2009-05-19 12:33:15"	"SEQ"	"DNA"	""	""
"0000184092"	"00183134"	"1"	"00006"	"00006"	"2018-10-14 12:07:53"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES-X chromosome"
"0000271040"	"00269887"	"1"	"01807"	"01807"	"2019-12-10 12:31:42"	""	""	"SEQ"	"DNA"	""	""
"0000296266"	"00295098"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296267"	"00295099"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296268"	"00295100"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296269"	"00295101"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297983"	"00296874"	"1"	"01164"	"01164"	"2020-04-14 14:35:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000301150"	"00300034"	"1"	"00006"	"00006"	"2020-04-22 19:54:00"	""	""	"SEQ"	"DNA"	""	"56-gene neuropathy panel"
"0000304424"	"00303299"	"1"	"00006"	"00006"	"2020-06-09 19:07:12"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000313273"	"00312101"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313274"	"00312102"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313275"	"00312103"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313276"	"00312104"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313277"	"00312105"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313278"	"00312106"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313279"	"00312107"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313280"	"00312108"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313281"	"00312109"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313282"	"00312110"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"BESS"	"DNA;RNA"	""	""
"0000313283"	"00312111"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313284"	"00312112"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313285"	"00312113"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313286"	"00312114"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313287"	"00312115"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313288"	"00312116"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313289"	"00312117"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313290"	"00312118"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	"01594"	"2012-05-05 08:12:45"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313291"	"00312119"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313292"	"00312120"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313293"	"00312121"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313294"	"00312122"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313295"	"00312123"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313296"	"00312124"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313297"	"00312125"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313298"	"00312126"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313299"	"00312127"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313300"	"00312128"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313301"	"00312129"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313302"	"00312130"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313303"	"00312131"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313304"	"00312132"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313305"	"00312133"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313306"	"00312134"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313307"	"00312135"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313308"	"00312136"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313309"	"00312137"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313310"	"00312138"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313311"	"00312139"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313312"	"00312140"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313313"	"00312141"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313314"	"00312142"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313315"	"00312143"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313316"	"00312144"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313317"	"00312145"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313318"	"00312146"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313319"	"00312147"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313320"	"00312148"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313321"	"00312149"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313322"	"00312150"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313323"	"00312151"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313324"	"00312152"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	"01594"	"2012-05-05 08:09:17"	"SEQ"	"DNA"	""	""
"0000313325"	"00312153"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313326"	"00312154"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313327"	"00312155"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313328"	"00312156"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313329"	"00312157"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313330"	"00312158"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313331"	"00312159"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313332"	"00312160"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313333"	"00312161"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313334"	"00312162"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313335"	"00312163"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313336"	"00312164"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313337"	"00312165"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313338"	"00312166"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313339"	"00312167"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313340"	"00312168"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313341"	"00312169"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313342"	"00312170"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313343"	"00312171"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313344"	"00312172"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313345"	"00312173"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313346"	"00312174"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	"01594"	"2012-05-05 08:10:18"	"SEQ"	"DNA"	""	""
"0000313347"	"00312175"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313348"	"00312176"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313349"	"00312177"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313350"	"00312178"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313351"	"00312179"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313352"	"00312180"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313353"	"00312181"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313354"	"00312182"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313355"	"00312183"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313356"	"00312184"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313357"	"00312185"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313358"	"00312186"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313359"	"00312187"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313360"	"00312188"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313361"	"00312189"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313362"	"00312190"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313363"	"00312191"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313364"	"00312192"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313365"	"00312193"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313366"	"00312194"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313367"	"00312195"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313368"	"00312196"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313369"	"00312197"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313370"	"00312198"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313371"	"00312199"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313372"	"00312200"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313373"	"00312201"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313374"	"00312202"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313375"	"00312203"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313376"	"00312204"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313377"	"00312205"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313378"	"00312206"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313379"	"00312207"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313380"	"00312208"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313381"	"00312209"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313382"	"00312210"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313383"	"00312211"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313384"	"00312212"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313385"	"00312213"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313386"	"00312214"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313387"	"00312215"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313388"	"00312216"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313389"	"00312217"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313390"	"00312218"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313391"	"00312219"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313392"	"00312220"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313393"	"00312221"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313394"	"00312222"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313395"	"00312223"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313396"	"00312224"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313397"	"00312225"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313398"	"00312226"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313399"	"00312227"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313400"	"00312228"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313401"	"00312229"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313402"	"00312230"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313403"	"00312231"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313404"	"00312232"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313405"	"00312233"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313406"	"00312234"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313407"	"00312235"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313408"	"00312236"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313409"	"00312237"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313410"	"00312238"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313411"	"00312239"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313412"	"00312240"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313413"	"00312241"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313414"	"00312242"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313415"	"00312243"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313416"	"00312244"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	"01594"	"2012-05-05 08:05:11"	"SEQ"	"DNA"	""	""
"0000313417"	"00312245"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313418"	"00312246"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313419"	"00312247"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313420"	"00312248"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313421"	"00312249"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313422"	"00312250"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313423"	"00312251"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313424"	"00312252"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313425"	"00312253"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313426"	"00312254"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313427"	"00312255"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313428"	"00312256"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313429"	"00312257"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313430"	"00312258"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313431"	"00312259"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313432"	"00312260"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313433"	"00312261"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313434"	"00312262"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313435"	"00312263"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313436"	"00312264"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313437"	"00312265"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313438"	"00312266"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313439"	"00312267"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313440"	"00312268"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	"01594"	"2012-09-28 10:43:27"	"SEQ"	"DNA"	""	""
"0000313441"	"00312269"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313442"	"00312270"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313443"	"00312271"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313444"	"00312272"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313445"	"00312273"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313446"	"00312274"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313447"	"00312275"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	"01594"	"2012-05-05 08:08:04"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313448"	"00312276"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313449"	"00312277"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313450"	"00312278"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313451"	"00312279"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313452"	"00312280"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313453"	"00312281"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313454"	"00312282"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313455"	"00312283"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313456"	"00312284"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313457"	"00312285"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313458"	"00312286"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313459"	"00312287"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313460"	"00312288"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313461"	"00312289"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313462"	"00312290"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313463"	"00312291"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313464"	"00312292"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313465"	"00312293"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313466"	"00312294"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313467"	"00312295"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313468"	"00312296"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313469"	"00312297"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313470"	"00312298"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313471"	"00312299"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313472"	"00312300"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313473"	"00312301"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313474"	"00312302"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313475"	"00312303"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313476"	"00312304"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313477"	"00312305"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313478"	"00312306"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313479"	"00312307"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313480"	"00312308"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313481"	"00312309"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313482"	"00312310"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA;RNA"	""	""
"0000313483"	"00312311"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313484"	"00312312"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313485"	"00312313"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313486"	"00312314"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313487"	"00312315"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313488"	"00312316"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313489"	"00312317"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313490"	"00312318"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313491"	"00312319"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313492"	"00312320"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313493"	"00312321"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313494"	"00312322"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313495"	"00312323"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313496"	"00312324"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313497"	"00312325"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR"	"DNA"	""	""
"0000313498"	"00312326"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313499"	"00312327"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313500"	"00312328"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313501"	"00312329"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313502"	"00312330"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313503"	"00312331"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313504"	"00312332"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313505"	"00312333"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR"	"DNA"	""	""
"0000313506"	"00312334"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313507"	"00312335"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR"	"DNA"	""	""
"0000313508"	"00312336"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313509"	"00312337"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR"	"DNA"	""	""
"0000313510"	"00312338"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313511"	"00312339"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR"	"DNA"	""	""
"0000313512"	"00312340"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA;RNA"	""	""
"0000313513"	"00312341"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313514"	"00312342"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313515"	"00312343"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313516"	"00312344"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313517"	"00312345"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313518"	"00312346"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313519"	"00312347"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313520"	"00312348"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313521"	"00312349"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313522"	"00312350"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313523"	"00312351"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313524"	"00312352"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313525"	"00312353"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313526"	"00312354"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313527"	"00312355"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313528"	"00312356"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313529"	"00312357"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313530"	"00312358"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313531"	"00312359"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313532"	"00312360"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313533"	"00312361"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313534"	"00312362"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313535"	"00312363"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313536"	"00312364"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313537"	"00312365"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313538"	"00312366"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313539"	"00312367"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313540"	"00312368"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313541"	"00312369"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313542"	"00312370"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR"	"DNA"	""	""
"0000313543"	"00312371"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313544"	"00312372"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313545"	"00312373"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR"	"DNA"	""	""
"0000313546"	"00312374"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313547"	"00312375"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313548"	"00312376"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCRm;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313549"	"00312377"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313550"	"00312378"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313551"	"00312379"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313552"	"00312380"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313553"	"00312381"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR"	"DNA"	""	""
"0000313554"	"00312382"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313555"	"00312383"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313556"	"00312384"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR;PCRm"	"DNA"	""	""
"0000313557"	"00312385"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313558"	"00312386"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000313559"	"00312387"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"Southern;PCR;PCRm"	"DNA"	""	""
"0000313560"	"00312388"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR"	"DNA"	""	""
"0000313561"	"00312389"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"PCR"	"DNA"	""	""
"0000313562"	"00312390"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"microscope"	"DNA"	""	""
"0000313563"	"00312391"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"microscope;FISH"	"DNA"	""	""
"0000313564"	"00312392"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"microscope;FISH"	"DNA"	""	""
"0000313565"	"00312393"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"microscope;FISH"	"DNA"	""	""
"0000313566"	"00312394"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"microscope;FISH"	"DNA"	""	""
"0000313567"	"00312395"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"microscope;FISH"	"DNA"	""	""
"0000313568"	"00312396"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"microscope;FISH"	"DNA"	""	""
"0000313569"	"00312397"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313570"	"00312398"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313571"	"00312399"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313572"	"00312400"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313573"	"00312401"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313574"	"00312402"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313575"	"00312403"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313576"	"00312404"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313577"	"00312405"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313578"	"00312406"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313579"	"00312407"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313580"	"00312408"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313581"	"00312409"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313582"	"00312410"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313583"	"00312411"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313584"	"00312412"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313585"	"00312413"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313586"	"00312414"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313587"	"00312415"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313588"	"00312416"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313589"	"00312417"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313590"	"00312418"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313591"	"00312419"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313592"	"00312420"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313593"	"00312421"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313594"	"00312422"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313595"	"00312423"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313596"	"00312424"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313597"	"00312425"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313598"	"00312426"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313599"	"00312427"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313600"	"00312428"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313601"	"00312429"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313602"	"00312430"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313603"	"00312431"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313604"	"00312432"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313605"	"00312433"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313606"	"00312434"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313607"	"00312435"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313608"	"00312436"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313609"	"00312437"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313610"	"00312438"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313611"	"00312439"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313612"	"00312440"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313613"	"00312441"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313614"	"00312442"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313615"	"00312443"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313616"	"00312444"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313617"	"00312445"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313618"	"00312446"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313619"	"00312447"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313620"	"00312448"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313621"	"00312449"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313622"	"00312450"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313623"	"00312451"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313624"	"00312452"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313625"	"00312453"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313626"	"00312454"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313627"	"00312455"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313628"	"00312456"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313629"	"00312457"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313630"	"00312458"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313631"	"00312459"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313632"	"00312460"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313633"	"00312461"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313634"	"00312462"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313635"	"00312463"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313636"	"00312464"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313637"	"00312465"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313638"	"00312466"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313639"	"00312467"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313640"	"00312468"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313641"	"00312469"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313642"	"00312470"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313643"	"00312471"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313644"	"00312472"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313645"	"00312473"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313646"	"00312474"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313647"	"00312475"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	"01594"	"2012-09-28 10:45:55"	"SEQ"	"DNA"	""	""
"0000313648"	"00312476"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313649"	"00312477"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313650"	"00312478"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313651"	"00312479"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"SEQ"	"DNA"	""	""
"0000313652"	"00312480"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"SEQ"	"DNA"	""	""
"0000313653"	"00312481"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"SEQ"	"DNA"	""	""
"0000313654"	"00312482"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"SEQ"	"DNA"	""	""
"0000313655"	"00312483"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"SEQ"	"DNA"	""	""
"0000313656"	"00312484"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"SEQ"	"DNA"	""	""
"0000313657"	"00312485"	"1"	"01594"	"01594"	"2011-09-02 20:09:19"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313658"	"00312486"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA;RNA"	""	""
"0000313659"	"00312487"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA;RNA"	""	""
"0000313660"	"00312488"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA;RNA"	""	""
"0000313661"	"00312489"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA;RNA"	""	""
"0000313662"	"00312490"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA;RNA"	""	""
"0000313663"	"00312491"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313664"	"00312492"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA;RNA"	""	""
"0000313665"	"00312493"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA;RNA"	""	""
"0000313666"	"00312494"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313667"	"00312495"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313668"	"00312496"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313669"	"00312497"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313670"	"00312498"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA;RNA"	""	""
"0000313671"	"00312499"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313672"	"00312500"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313673"	"00312501"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA;RNA"	""	""
"0000313674"	"00312502"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313675"	"00312503"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313676"	"00312504"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313677"	"00312505"	"1"	"01594"	"01594"	"2012-05-10 10:08:03"	""	""	"MLPA;SEQ"	"DNA"	""	""
"0000313678"	"00312506"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313679"	"00312507"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313680"	"00312508"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313681"	"00312509"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313682"	"00312510"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313683"	"00312511"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313684"	"00312512"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313685"	"00312513"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313686"	"00312514"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313687"	"00312515"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313688"	"00312516"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313689"	"00312517"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313690"	"00312518"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313691"	"00312519"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313692"	"00312520"	"1"	"01594"	"01594"	"2012-07-25 11:36:32"	""	""	"SEQ"	"DNA"	""	""
"0000313693"	"00312521"	"1"	"01594"	"01594"	"2012-09-28 10:00:49"	""	""	"SEQ"	"DNA"	""	""
"0000313694"	"00312522"	"1"	"01594"	"01594"	"2012-09-28 10:03:57"	""	""	"SEQ"	"DNA"	""	""
"0000313695"	"00312523"	"1"	"01594"	"01594"	"2012-09-28 10:20:12"	""	""	"SEQ"	"DNA"	""	""
"0000313696"	"00312524"	"1"	"01594"	"01594"	"2012-09-28 10:23:20"	""	""	"SEQ"	"DNA"	""	""
"0000313697"	"00312525"	"1"	"03797"	"03797"	"2013-07-22 18:05:29"	""	""	"SEQ"	"DNA"	""	""
"0000392841"	"00391599"	"1"	"02494"	"02494"	"2021-11-18 13:32:19"	""	""	"SEQ-NG"	"DNA"	""	""
"0000405101"	"00403863"	"1"	"00006"	"00006"	"2022-02-24 16:43:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000420825"	"00419521"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000436108"	"00434637"	"1"	"00006"	"00006"	"2023-04-04 15:56:04"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000436365"	"00434892"	"1"	"04419"	"04419"	"2023-04-11 01:59:19"	""	""	"arrayCGH"	"DNA"	"Peripheral blood"	"Gene-targeted deletion/duplication analysis"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 459
"{{screeningid}}"	"{{geneid}}"
"0000000040"	"ATP7A"
"0000000040"	"DPYD"
"0000000040"	"GLB1"
"0000000040"	"LAMA2"
"0000000041"	"ATP7A"
"0000000041"	"ATP7B"
"0000000041"	"DPYD"
"0000000041"	"ETFB"
"0000000041"	"IGHMBP2"
"0000000041"	"MPL"
"0000000041"	"MYO5A"
"0000000041"	"NHLRC1"
"0000000041"	"NPHP4"
"0000000041"	"NPHS1"
"0000000041"	"PLP1"
"0000000041"	"SERPINA1"
"0000000093"	"ATP7A"
"0000000093"	"ATP7B"
"0000000093"	"GLB1"
"0000000093"	"HBA1"
"0000000093"	"SERPINA1"
"0000000093"	"SMPD1"
"0000000108"	"ATP7A"
"0000000109"	"ATP7A"
"0000000110"	"ATP7A"
"0000034915"	"ATP7A"
"0000034916"	"ATP7A"
"0000034917"	"ATP7A"
"0000173230"	"PGAM4"
"0000173231"	"PGAM4"
"0000184092"	"ATP7A"
"0000301150"	"ATP7A"
"0000304424"	"SCAF4"
"0000313273"	"ATP7A"
"0000313274"	"ATP7A"
"0000313275"	"ATP7A"
"0000313276"	"ATP7A"
"0000313277"	"ATP7A"
"0000313278"	"ATP7A"
"0000313279"	"ATP7A"
"0000313280"	"ATP7A"
"0000313281"	"ATP7A"
"0000313282"	"ATP7A"
"0000313283"	"ATP7A"
"0000313284"	"ATP7A"
"0000313285"	"ATP7A"
"0000313286"	"ATP7A"
"0000313287"	"ATP7A"
"0000313288"	"ATP7A"
"0000313289"	"ATP7A"
"0000313290"	"ATP7A"
"0000313291"	"ATP7A"
"0000313292"	"ATP7A"
"0000313293"	"ATP7A"
"0000313294"	"ATP7A"
"0000313295"	"ATP7A"
"0000313296"	"ATP7A"
"0000313297"	"ATP7A"
"0000313298"	"ATP7A"
"0000313299"	"ATP7A"
"0000313300"	"ATP7A"
"0000313301"	"ATP7A"
"0000313302"	"ATP7A"
"0000313303"	"ATP7A"
"0000313304"	"ATP7A"
"0000313305"	"ATP7A"
"0000313306"	"ATP7A"
"0000313307"	"ATP7A"
"0000313308"	"ATP7A"
"0000313309"	"ATP7A"
"0000313310"	"ATP7A"
"0000313311"	"ATP7A"
"0000313312"	"ATP7A"
"0000313313"	"ATP7A"
"0000313314"	"ATP7A"
"0000313315"	"ATP7A"
"0000313316"	"ATP7A"
"0000313317"	"ATP7A"
"0000313318"	"ATP7A"
"0000313319"	"ATP7A"
"0000313320"	"ATP7A"
"0000313321"	"ATP7A"
"0000313322"	"ATP7A"
"0000313323"	"ATP7A"
"0000313324"	"ATP7A"
"0000313325"	"ATP7A"
"0000313326"	"ATP7A"
"0000313327"	"ATP7A"
"0000313328"	"ATP7A"
"0000313329"	"ATP7A"
"0000313330"	"ATP7A"
"0000313331"	"ATP7A"
"0000313332"	"ATP7A"
"0000313333"	"ATP7A"
"0000313334"	"ATP7A"
"0000313335"	"ATP7A"
"0000313336"	"ATP7A"
"0000313337"	"ATP7A"
"0000313338"	"ATP7A"
"0000313339"	"ATP7A"
"0000313340"	"ATP7A"
"0000313341"	"ATP7A"
"0000313342"	"ATP7A"
"0000313343"	"ATP7A"
"0000313344"	"ATP7A"
"0000313345"	"ATP7A"
"0000313346"	"ATP7A"
"0000313347"	"ATP7A"
"0000313348"	"ATP7A"
"0000313349"	"ATP7A"
"0000313350"	"ATP7A"
"0000313351"	"ATP7A"
"0000313352"	"ATP7A"
"0000313353"	"ATP7A"
"0000313354"	"ATP7A"
"0000313355"	"ATP7A"
"0000313356"	"ATP7A"
"0000313357"	"ATP7A"
"0000313358"	"ATP7A"
"0000313359"	"ATP7A"
"0000313360"	"ATP7A"
"0000313361"	"ATP7A"
"0000313362"	"ATP7A"
"0000313363"	"ATP7A"
"0000313364"	"ATP7A"
"0000313365"	"ATP7A"
"0000313366"	"ATP7A"
"0000313367"	"ATP7A"
"0000313368"	"ATP7A"
"0000313369"	"ATP7A"
"0000313370"	"ATP7A"
"0000313371"	"ATP7A"
"0000313372"	"ATP7A"
"0000313373"	"ATP7A"
"0000313374"	"ATP7A"
"0000313375"	"ATP7A"
"0000313376"	"ATP7A"
"0000313377"	"ATP7A"
"0000313378"	"ATP7A"
"0000313379"	"ATP7A"
"0000313380"	"ATP7A"
"0000313381"	"ATP7A"
"0000313382"	"ATP7A"
"0000313383"	"ATP7A"
"0000313384"	"ATP7A"
"0000313385"	"ATP7A"
"0000313386"	"ATP7A"
"0000313387"	"ATP7A"
"0000313388"	"ATP7A"
"0000313389"	"ATP7A"
"0000313390"	"ATP7A"
"0000313391"	"ATP7A"
"0000313392"	"ATP7A"
"0000313393"	"ATP7A"
"0000313394"	"ATP7A"
"0000313395"	"ATP7A"
"0000313396"	"ATP7A"
"0000313397"	"ATP7A"
"0000313398"	"ATP7A"
"0000313399"	"ATP7A"
"0000313400"	"ATP7A"
"0000313401"	"ATP7A"
"0000313402"	"ATP7A"
"0000313403"	"ATP7A"
"0000313404"	"ATP7A"
"0000313405"	"ATP7A"
"0000313406"	"ATP7A"
"0000313407"	"ATP7A"
"0000313408"	"ATP7A"
"0000313409"	"ATP7A"
"0000313410"	"ATP7A"
"0000313411"	"ATP7A"
"0000313412"	"ATP7A"
"0000313413"	"ATP7A"
"0000313414"	"ATP7A"
"0000313415"	"ATP7A"
"0000313416"	"ATP7A"
"0000313417"	"ATP7A"
"0000313418"	"ATP7A"
"0000313419"	"ATP7A"
"0000313420"	"ATP7A"
"0000313421"	"ATP7A"
"0000313422"	"ATP7A"
"0000313423"	"ATP7A"
"0000313424"	"ATP7A"
"0000313425"	"ATP7A"
"0000313426"	"ATP7A"
"0000313427"	"ATP7A"
"0000313428"	"ATP7A"
"0000313429"	"ATP7A"
"0000313430"	"ATP7A"
"0000313431"	"ATP7A"
"0000313432"	"ATP7A"
"0000313433"	"ATP7A"
"0000313434"	"ATP7A"
"0000313435"	"ATP7A"
"0000313436"	"ATP7A"
"0000313437"	"ATP7A"
"0000313438"	"ATP7A"
"0000313439"	"ATP7A"
"0000313440"	"ATP7A"
"0000313441"	"ATP7A"
"0000313442"	"ATP7A"
"0000313443"	"ATP7A"
"0000313444"	"ATP7A"
"0000313445"	"ATP7A"
"0000313446"	"ATP7A"
"0000313447"	"ATP7A"
"0000313448"	"ATP7A"
"0000313449"	"ATP7A"
"0000313450"	"ATP7A"
"0000313451"	"ATP7A"
"0000313452"	"ATP7A"
"0000313453"	"ATP7A"
"0000313454"	"ATP7A"
"0000313455"	"ATP7A"
"0000313456"	"ATP7A"
"0000313457"	"ATP7A"
"0000313458"	"ATP7A"
"0000313459"	"ATP7A"
"0000313460"	"ATP7A"
"0000313461"	"ATP7A"
"0000313462"	"ATP7A"
"0000313463"	"ATP7A"
"0000313464"	"ATP7A"
"0000313465"	"ATP7A"
"0000313466"	"ATP7A"
"0000313467"	"ATP7A"
"0000313468"	"ATP7A"
"0000313469"	"ATP7A"
"0000313470"	"ATP7A"
"0000313471"	"ATP7A"
"0000313472"	"ATP7A"
"0000313473"	"ATP7A"
"0000313474"	"ATP7A"
"0000313475"	"ATP7A"
"0000313476"	"ATP7A"
"0000313477"	"ATP7A"
"0000313478"	"ATP7A"
"0000313479"	"ATP7A"
"0000313480"	"ATP7A"
"0000313481"	"ATP7A"
"0000313482"	"ATP7A"
"0000313483"	"ATP7A"
"0000313484"	"ATP7A"
"0000313485"	"ATP7A"
"0000313486"	"ATP7A"
"0000313487"	"ATP7A"
"0000313488"	"ATP7A"
"0000313489"	"ATP7A"
"0000313490"	"ATP7A"
"0000313491"	"ATP7A"
"0000313492"	"ATP7A"
"0000313493"	"ATP7A"
"0000313494"	"ATP7A"
"0000313495"	"ATP7A"
"0000313496"	"ATP7A"
"0000313497"	"ATP7A"
"0000313498"	"ATP7A"
"0000313499"	"ATP7A"
"0000313500"	"ATP7A"
"0000313501"	"ATP7A"
"0000313502"	"ATP7A"
"0000313503"	"ATP7A"
"0000313504"	"ATP7A"
"0000313505"	"ATP7A"
"0000313506"	"ATP7A"
"0000313507"	"ATP7A"
"0000313508"	"ATP7A"
"0000313509"	"ATP7A"
"0000313510"	"ATP7A"
"0000313511"	"ATP7A"
"0000313512"	"ATP7A"
"0000313513"	"ATP7A"
"0000313514"	"ATP7A"
"0000313515"	"ATP7A"
"0000313516"	"ATP7A"
"0000313517"	"ATP7A"
"0000313518"	"ATP7A"
"0000313519"	"ATP7A"
"0000313520"	"ATP7A"
"0000313521"	"ATP7A"
"0000313522"	"ATP7A"
"0000313523"	"ATP7A"
"0000313524"	"ATP7A"
"0000313525"	"ATP7A"
"0000313526"	"ATP7A"
"0000313527"	"ATP7A"
"0000313528"	"ATP7A"
"0000313529"	"ATP7A"
"0000313530"	"ATP7A"
"0000313531"	"ATP7A"
"0000313532"	"ATP7A"
"0000313533"	"ATP7A"
"0000313534"	"ATP7A"
"0000313535"	"ATP7A"
"0000313536"	"ATP7A"
"0000313537"	"ATP7A"
"0000313538"	"ATP7A"
"0000313539"	"ATP7A"
"0000313540"	"ATP7A"
"0000313541"	"ATP7A"
"0000313542"	"ATP7A"
"0000313543"	"ATP7A"
"0000313544"	"ATP7A"
"0000313545"	"ATP7A"
"0000313546"	"ATP7A"
"0000313547"	"ATP7A"
"0000313548"	"ATP7A"
"0000313549"	"ATP7A"
"0000313550"	"ATP7A"
"0000313551"	"ATP7A"
"0000313552"	"ATP7A"
"0000313553"	"ATP7A"
"0000313554"	"ATP7A"
"0000313555"	"ATP7A"
"0000313556"	"ATP7A"
"0000313557"	"ATP7A"
"0000313558"	"ATP7A"
"0000313559"	"ATP7A"
"0000313560"	"ATP7A"
"0000313561"	"ATP7A"
"0000313562"	"ATP7A"
"0000313563"	"ATP7A"
"0000313564"	"ATP7A"
"0000313565"	"ATP7A"
"0000313566"	"ATP7A"
"0000313567"	"ATP7A"
"0000313568"	"ATP7A"
"0000313569"	"ATP7A"
"0000313570"	"ATP7A"
"0000313571"	"ATP7A"
"0000313572"	"ATP7A"
"0000313573"	"ATP7A"
"0000313574"	"ATP7A"
"0000313575"	"ATP7A"
"0000313576"	"ATP7A"
"0000313577"	"ATP7A"
"0000313578"	"ATP7A"
"0000313579"	"ATP7A"
"0000313580"	"ATP7A"
"0000313581"	"ATP7A"
"0000313582"	"ATP7A"
"0000313583"	"ATP7A"
"0000313584"	"ATP7A"
"0000313585"	"ATP7A"
"0000313586"	"ATP7A"
"0000313587"	"ATP7A"
"0000313588"	"ATP7A"
"0000313589"	"ATP7A"
"0000313590"	"ATP7A"
"0000313591"	"ATP7A"
"0000313592"	"ATP7A"
"0000313593"	"ATP7A"
"0000313594"	"ATP7A"
"0000313595"	"ATP7A"
"0000313596"	"ATP7A"
"0000313597"	"ATP7A"
"0000313598"	"ATP7A"
"0000313599"	"ATP7A"
"0000313600"	"ATP7A"
"0000313601"	"ATP7A"
"0000313602"	"ATP7A"
"0000313603"	"ATP7A"
"0000313604"	"ATP7A"
"0000313605"	"ATP7A"
"0000313606"	"ATP7A"
"0000313607"	"ATP7A"
"0000313608"	"ATP7A"
"0000313609"	"ATP7A"
"0000313610"	"ATP7A"
"0000313611"	"ATP7A"
"0000313612"	"ATP7A"
"0000313613"	"ATP7A"
"0000313614"	"ATP7A"
"0000313615"	"ATP7A"
"0000313616"	"ATP7A"
"0000313617"	"ATP7A"
"0000313618"	"ATP7A"
"0000313619"	"ATP7A"
"0000313620"	"ATP7A"
"0000313621"	"ATP7A"
"0000313622"	"ATP7A"
"0000313623"	"ATP7A"
"0000313624"	"ATP7A"
"0000313625"	"ATP7A"
"0000313626"	"ATP7A"
"0000313627"	"ATP7A"
"0000313628"	"ATP7A"
"0000313629"	"ATP7A"
"0000313630"	"ATP7A"
"0000313631"	"ATP7A"
"0000313632"	"ATP7A"
"0000313633"	"ATP7A"
"0000313634"	"ATP7A"
"0000313635"	"ATP7A"
"0000313636"	"ATP7A"
"0000313637"	"ATP7A"
"0000313638"	"ATP7A"
"0000313639"	"ATP7A"
"0000313640"	"ATP7A"
"0000313641"	"ATP7A"
"0000313642"	"ATP7A"
"0000313643"	"ATP7A"
"0000313644"	"ATP7A"
"0000313645"	"ATP7A"
"0000313646"	"ATP7A"
"0000313647"	"ATP7A"
"0000313648"	"ATP7A"
"0000313649"	"ATP7A"
"0000313650"	"ATP7A"
"0000313651"	"ATP7A"
"0000313652"	"ATP7A"
"0000313653"	"ATP7A"
"0000313654"	"ATP7A"
"0000313655"	"ATP7A"
"0000313656"	"ATP7A"
"0000313657"	"ATP7A"
"0000313658"	"ATP7A"
"0000313659"	"ATP7A"
"0000313660"	"ATP7A"
"0000313661"	"ATP7A"
"0000313662"	"ATP7A"
"0000313663"	"ATP7A"
"0000313664"	"ATP7A"
"0000313665"	"ATP7A"
"0000313666"	"ATP7A"
"0000313667"	"ATP7A"
"0000313668"	"ATP7A"
"0000313669"	"ATP7A"
"0000313670"	"ATP7A"
"0000313671"	"ATP7A"
"0000313672"	"ATP7A"
"0000313673"	"ATP7A"
"0000313674"	"ATP7A"
"0000313675"	"ATP7A"
"0000313676"	"ATP7A"
"0000313677"	"ATP7A"
"0000313678"	"ATP7A"
"0000313679"	"ATP7A"
"0000313680"	"ATP7A"
"0000313681"	"ATP7A"
"0000313682"	"ATP7A"
"0000313683"	"ATP7A"
"0000313684"	"ATP7A"
"0000313685"	"ATP7A"
"0000313686"	"ATP7A"
"0000313687"	"ATP7A"
"0000313688"	"ATP7A"
"0000313689"	"ATP7A"
"0000313690"	"ATP7A"
"0000313691"	"ATP7A"
"0000313692"	"ATP7A"
"0000313693"	"ATP7A"
"0000313694"	"ATP7A"
"0000313695"	"ATP7A"
"0000313696"	"ATP7A"
"0000313697"	"ATP7A"
"0000436365"	"ATP7A"


## 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 = 658
"{{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}}"
"0000001297"	"0"	"50"	"X"	"77244775"	"77244779"	"del"	"0"	"00002"	"ATP7A_000005"	"g.77244775_77244779del"	""	""	""	" chrX:77131431_77131435delATCTT"	""	"Germline"	""	""	""	""	""	"g.77989279_77989283del"	""	"VUS"	""
"0000001298"	"0"	"50"	"X"	"77244777"	"77244781"	"del"	"0"	"00002"	"ATP7A_000006"	"g.77244777_77244781del"	""	""	""	" EXON 3, C.658_662DELATCTC, I220FS, CHRX:77131432_77131436DELATCTC"	""	"Germline"	""	""	""	""	""	"g.77989281_77989285del"	""	"VUS"	""
"0000001299"	"0"	"50"	"X"	"77266943"	"77266947"	"dup"	"0"	"00002"	"ATP7A_000020"	"g.77266943_77266947dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78011446_78011450dup"	""	"VUS"	""
"0000001300"	"3"	"50"	"X"	"77244116"	"77244116"	"subst"	"0"	"00002"	"ATP7A_000055"	"g.77244116C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.77988620C>T"	""	"VUS"	""
"0000001301"	"0"	"50"	"X"	"77266751"	"77266751"	"subst"	"0"	"00002"	"ATP7A_000156"	"g.77266751T>C"	""	""	""	"INTRON 7, IVS7+2T>C, EXON8DEL&FS"	""	"Germline"	""	""	""	""	""	"g.78011254T>C"	""	"VUS"	""
"0000001302"	"0"	"50"	"X"	"77298813"	"77298813"	"subst"	"0"	"00002"	"ATP7A_000194"	"g.77298813A>G"	""	""	""	"INTRON 19, IVS19-2A>G"	""	"Germline"	""	""	""	""	""	"g.78043315A>G"	""	"VUS"	""
"0000002030"	"20"	"50"	"X"	"77286836"	"77286836"	"del"	"0"	"00037"	"ATP7A_000352"	"g.77286836del"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000003064"	"20"	"50"	"X"	"77286830"	"77286830"	"del"	"0"	"00037"	"ATP7A_000356"	"g.77286830del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78031333del"	""	"VUS"	""
"0000007197"	"20"	"50"	"X"	"77166449"	"77166449"	"subst"	"0"	"00037"	"ATP7A_000354"	"g.77166449T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.77910952T>C"	""	"VUS"	""
"0000007198"	"20"	"50"	"X"	"77296047"	"77296047"	"subst"	"1"	"00037"	"ATP7A_000353"	"g.77296047G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78040549="	""	"VUS"	""
"0000007199"	"20"	"50"	"X"	"77298857"	"77298857"	"subst"	"1"	"00037"	"ATP7A_000351"	"g.77298857G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78043359="	""	"VUS"	""
"0000009293"	"20"	"50"	"X"	"77166449"	"77166449"	"subst"	"0"	"00037"	"ATP7A_000354"	"g.77166449T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.77910952T>C"	""	"VUS"	""
"0000009294"	"20"	"50"	"X"	"77286836"	"77286836"	"del"	"0"	"00037"	"ATP7A_000352"	"g.77286836del"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"VUS"	""
"0000009295"	"20"	"50"	"X"	"77296047"	"77296047"	"subst"	"1"	"00037"	"ATP7A_000353"	"g.77296047G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78040549="	""	"VUS"	""
"0000009296"	"20"	"50"	"X"	"77298857"	"77298857"	"subst"	"1"	"00037"	"ATP7A_000351"	"g.77298857G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78043359="	""	"VUS"	""
"0000011045"	"0"	"50"	"X"	"77264514"	"77264514"	"del"	"0"	"00037"	"ATP7A_000357"	"g.77264514del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78009017del"	""	"VUS"	""
"0000011046"	"0"	"50"	"X"	"77268087"	"77268087"	"del"	"0"	"00037"	"ATP7A_000355"	"g.77268087del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78012590del"	""	"VUS"	""
"0000011047"	"20"	"50"	"X"	"77286830"	"77286830"	"del"	"0"	"00037"	"ATP7A_000356"	"g.77286830del"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.78031333del"	""	"VUS"	""
"0000062034"	"1"	"10"	"X"	"77296047"	"77296047"	"subst"	"1"	"01164"	"ATP7A_000353"	"g.77296047G>C"	""	""	""	""	""	"Germline"	""	"rs5913631"	"0"	""	""	"g.78040549="	""	"benign"	""
"0000062035"	"1"	"10"	"X"	"77298857"	"77298857"	"subst"	"1"	"01164"	"ATP7A_000351"	"g.77298857G>A"	""	""	""	""	""	"Germline"	""	"rs4826245"	"0"	""	""	"g.78043359="	""	"benign"	""
"0000062036"	"1"	"50"	"X"	"77301135"	"77301135"	"subst"	"0"	"01164"	"ATP7A_000358"	"g.77301135G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.78045638G>A"	""	"VUS"	""
"0000247794"	"0"	"50"	"X"	"77254091"	"77254091"	"subst"	"0"	"02330"	"ATP7A_000383"	"g.77254091A>G"	""	""	""	"ATP7A(NM_000052.7):c.1453A>G (p.K485E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77998594A>G"	""	"VUS"	""
"0000248784"	"0"	"10"	"X"	"77244182"	"77244182"	"subst"	"0.00193238"	"02325"	"ATP7A_000370"	"g.77244182A>G"	""	""	""	"ATP7A(NM_000052.5):c.565A>G (p.(Ile189Val)), ATP7A(NM_000052.7):c.565A>G (p.I189V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988686A>G"	""	"benign"	""
"0000248797"	"0"	"10"	"X"	"77254154"	"77254154"	"subst"	"0.00191419"	"02325"	"ATP7A_000384"	"g.77254154A>G"	""	""	""	"ATP7A(NM_000052.5):c.1516A>G (p.(Ile506Val)), ATP7A(NM_000052.7):c.1516A>G (p.I506V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77998657A>G"	""	"benign"	""
"0000249420"	"0"	"30"	"X"	"77276563"	"77276563"	"subst"	"0.000719247"	"02325"	"ATP7A_000396"	"g.77276563A>G"	""	""	""	"ATP7A(NM_000052.6):c.2903A>G (p.E968G), ATP7A(NM_000052.7):c.2903A>G (p.E968G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78021066A>G"	""	"likely benign"	""
"0000252796"	"0"	"50"	"X"	"77268482"	"77268482"	"subst"	"6.15295E-5"	"02326"	"ATP7A_000391"	"g.77268482A>G"	""	""	""	"ATP7A(NM_000052.7):c.2279A>G (p.Y760C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78012985A>G"	""	"VUS"	""
"0000253505"	"0"	"10"	"X"	"77245417"	"77245417"	"subst"	"0"	"01943"	"ATP7A_000381"	"g.77245417A>T"	""	""	""	"ATP7A(NM_000052.6):c.1299A>T (p.G433=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77989921A>T"	""	"benign"	""
"0000253700"	"0"	"10"	"X"	"77245246"	"77245246"	"subst"	"0"	"01943"	"ATP7A_000376"	"g.77245246A>C"	""	""	""	"ATP7A(NM_000052.6):c.1128A>C (p.T376=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77989750A>C"	""	"benign"	""
"0000253952"	"0"	"10"	"X"	"77266648"	"77266648"	"subst"	"0"	"01943"	"ATP7A_000285"	"g.77266648A>C"	""	""	""	"ATP7A(NM_000052.6):c.1870-25A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011151A>C"	""	"benign"	""
"0000253953"	"0"	"10"	"X"	"77301117"	"77301117"	"subst"	"0.0148965"	"01943"	"ATP7A_000295"	"g.77301117A>G"	""	""	""	"ATP7A(NM_000052.6):c.4226+48A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78045620A>G"	""	"benign"	""
"0000254512"	"0"	"30"	"X"	"77244755"	"77244755"	"subst"	"5.64713E-6"	"01943"	"ATP7A_000372"	"g.77244755A>G"	""	""	""	"ATP7A(NM_000052.6):c.637A>G (p.I213V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77989259A>G"	""	"likely benign"	""
"0000254555"	"0"	"30"	"X"	"77258581"	"77258581"	"subst"	"5.595E-6"	"01943"	"ATP7A_000415"	"g.77258581A>G"	""	""	""	"ATP7A(NM_000052.6):c.1555A>G (p.I519V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78003084A>G"	""	"likely benign"	""
"0000254755"	"0"	"30"	"X"	"77294411"	"77294411"	"subst"	"0.000733499"	"01943"	"ATP7A_000402"	"g.77294411A>G"	""	""	""	"ATP7A(NM_000052.6):c.3589A>G (p.N1197D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78038913A>G"	""	"likely benign"	""
"0000256081"	"0"	"50"	"X"	"77245421"	"77245421"	"subst"	"5.62363E-6"	"01943"	"ATP7A_000382"	"g.77245421A>G"	""	""	""	"ATP7A(NM_000052.6):c.1303A>G (p.I435V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77989925A>G"	""	"VUS"	""
"0000256561"	"0"	"30"	"X"	"77243762"	"77243762"	"subst"	"0"	"01943"	"ATP7A_000365"	"g.77243762A>G"	""	""	""	"ATP7A(NM_000052.6):c.145A>G (p.T49A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988266A>G"	""	"likely benign"	""
"0000258460"	"0"	"50"	"X"	"77266953"	"77266953"	"subst"	"3.92216E-5"	"02330"	"ATP7A_000387"	"g.77266953C>T"	""	""	""	"ATP7A(NM_000052.6):c.1954C>T (p.R652W), ATP7A(NM_000052.7):c.1954C>T (p.R652W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011456C>T"	""	"VUS"	""
"0000258461"	"0"	"10"	"X"	"77268502"	"77268502"	"subst"	"0.237103"	"02330"	"ATP7A_000289"	"g.77268502G>C"	""	""	""	"ATP7A(NM_000052.6):c.2299G>C (p.V767L), ATP7A(NM_000052.7):c.2299G>C (p.V767L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78013005G>C"	""	"benign"	""
"0000258462"	"0"	"10"	"X"	"77243944"	"77243944"	"subst"	"0.0101625"	"02330"	"ATP7A_000281"	"g.77243944G>A"	""	""	""	"ATP7A(NM_000052.6):c.327G>A (p.K109=), ATP7A(NM_000052.7):c.327G>A (p.K109=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988448G>A"	""	"benign"	""
"0000258463"	"0"	"50"	"X"	"77294454"	"77294454"	"subst"	"6.16026E-5"	"02330"	"ATP7A_000405"	"g.77294454G>A"	""	""	""	"ATP7A(NM_000052.7):c.3632G>A (p.R1211Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78038956G>A"	""	"VUS"	""
"0000258464"	"0"	"10"	"X"	"77298857"	"77298857"	"subst"	"1"	"02330"	"ATP7A_000351"	"g.77298857G>A"	""	""	""	"ATP7A(NM_000052.7):c.4048G>A (p.E1350K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78043359="	""	"benign"	""
"0000258806"	"0"	"10"	"X"	"77268502"	"77268502"	"subst"	"0.237103"	"02325"	"ATP7A_000289"	"g.77268502G>C"	""	""	""	"ATP7A(NM_000052.6):c.2299G>C (p.V767L), ATP7A(NM_000052.7):c.2299G>C (p.V767L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78013005G>C"	""	"benign"	""
"0000258807"	"0"	"10"	"X"	"77298857"	"77298857"	"subst"	"1"	"02325"	"ATP7A_000351"	"g.77298857G>A"	""	""	""	"ATP7A(NM_000052.7):c.4048G>A (p.E1350K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78043359="	""	"benign"	""
"0000260252"	"0"	"10"	"X"	"77268502"	"77268502"	"subst"	"0.237103"	"02329"	"ATP7A_000289"	"g.77268502G>C"	""	""	""	"ATP7A(NM_000052.6):c.2299G>C (p.V767L), ATP7A(NM_000052.7):c.2299G>C (p.V767L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78013005G>C"	""	"benign"	""
"0000260253"	"0"	"10"	"X"	"77298857"	"77298857"	"subst"	"1"	"02329"	"ATP7A_000351"	"g.77298857G>A"	""	""	""	"ATP7A(NM_000052.7):c.4048G>A (p.E1350K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78043359="	""	"benign"	""
"0000260254"	"0"	"50"	"X"	"77244170"	"77244170"	"subst"	"0"	"02329"	"ATP7A_000369"	"g.77244170T>C"	""	""	""	"ATP7A(NM_000052.6):c.553T>C (p.C185R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988674T>C"	""	"VUS"	""
"0000261217"	"0"	"10"	"X"	"77266954"	"77266954"	"subst"	"0.000302545"	"02326"	"ATP7A_000388"	"g.77266954G>A"	""	""	""	"ATP7A(NM_000052.5):c.1955G>A (p.(Arg652Gln)), ATP7A(NM_000052.7):c.1955G>A (p.R652Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011457G>A"	""	"benign"	""
"0000263322"	"0"	"90"	"X"	"77245257"	"77245258"	"del"	"0"	"01943"	"ATP7A_000377"	"g.77245257_77245258del"	""	""	""	"ATP7A(NM_000052.6):c.1139_1140delTG (p.V380Dfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77989761_77989762del"	""	"pathogenic"	""
"0000263323"	"0"	"90"	"X"	"77245263"	"77245263"	"dup"	"0"	"01943"	"ATP7A_000378"	"g.77245263dup"	""	""	""	"ATP7A(NM_000052.6):c.1145dupA (p.N382Kfs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77989767dup"	""	"pathogenic"	""
"0000263324"	"0"	"30"	"X"	"77245388"	"77245388"	"subst"	"5.65944E-5"	"01943"	"ATP7A_000380"	"g.77245388C>T"	""	""	""	"ATP7A(NM_000052.6):c.1270C>T (p.L424=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77989892C>T"	""	"likely benign"	""
"0000263325"	"0"	"30"	"X"	"77258628"	"77258628"	"subst"	"0"	"01943"	"ATP7A_000384"	"g.77258628T>C"	""	""	""	"ATP7A(NM_000052.6):c.1602T>C (p.P534=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78003131T>C"	""	"likely benign"	""
"0000263326"	"0"	"90"	"X"	"77258665"	"77258665"	"subst"	"0"	"01943"	"ATP7A_000063"	"g.77258665C>T"	""	""	""	"ATP7A(NM_000052.6):c.1639C>T (p.R547*), ATP7A(NM_000052.7):c.1639C>T (p.R547*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78003168C>T"	""	"pathogenic"	""
"0000263327"	"0"	"90"	"X"	"77258695"	"77258695"	"subst"	"0"	"01943"	"ATP7A_000385"	"g.77258695G>T"	""	""	""	"ATP7A(NM_000052.6):c.1669G>T (p.E557*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78003198G>T"	""	"pathogenic"	""
"0000263328"	"0"	"70"	"X"	"77266754"	"77266754"	"subst"	"0"	"01943"	"ATP7A_000159"	"g.77266754G>C"	""	""	""	"ATP7A(NM_000052.6):c.1946+5G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011257G>C"	""	"likely pathogenic"	""
"0000263329"	"0"	"90"	"X"	"77266940"	"77266940"	"subst"	"0"	"01943"	"ATP7A_000386"	"g.77266940T>G"	""	""	""	"ATP7A(NM_000052.6):c.1947-6T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011443T>G"	""	"pathogenic"	""
"0000263330"	"0"	"90"	"X"	"77267070"	"77267070"	"subst"	"0"	"01943"	"ATP7A_000389"	"g.77267070G>T"	""	""	""	"ATP7A(NM_000052.6):c.2071G>T (p.E691*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011573G>T"	""	"pathogenic"	""
"0000263331"	"0"	"10"	"X"	"77267105"	"77267105"	"subst"	"0"	"01943"	"ATP7A_000287"	"g.77267105G>T"	""	""	""	"ATP7A(NM_000052.6):c.2106G>T (p.E702D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011608G>T"	""	"benign"	""
"0000263332"	"0"	"10"	"X"	"77267107"	"77267107"	"subst"	"5.59776E-6"	"01943"	"ATP7A_000288"	"g.77267107G>A"	""	""	""	"ATP7A(NM_000052.6):c.2108G>A (p.R703H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011610G>A"	""	"benign"	""
"0000263333"	"0"	"50"	"X"	"77243831"	"77243831"	"subst"	"0"	"01943"	"ATP7A_000366"	"g.77243831G>A"	""	""	""	"ATP7A(NM_000052.6):c.214G>A (p.D72N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988335G>A"	""	"VUS"	""
"0000263334"	"0"	"90"	"X"	"77267152"	"77267152"	"subst"	"0"	"01943"	"ATP7A_000390"	"g.77267152T>G"	""	""	""	"ATP7A(NM_000052.6):c.2153T>G (p.L718*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011655T>G"	""	"pathogenic"	""
"0000263335"	"0"	"90"	"X"	"77268382"	"77268382"	"subst"	"0"	"01943"	"ATP7A_000100"	"g.77268382G>A"	""	""	""	"ATP7A(NM_000052.6):c.2179G>A (p.G727R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78012885G>A"	""	"pathogenic"	""
"0000263336"	"0"	"90"	"X"	"77268390"	"77268390"	"subst"	"0"	"01943"	"ATP7A_000073"	"g.77268390G>A"	""	""	""	"ATP7A(NM_000052.6):c.2187G>A (p.W729*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78012893G>A"	""	"pathogenic"	""
"0000263337"	"0"	"90"	"X"	"77268487"	"77268488"	"del"	"0"	"01943"	"ATP7A_000025"	"g.77268487_77268488del"	""	""	""	"ATP7A(NM_000052.6):c.2284_2285delTT (p.L762Dfs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78012990_78012991del"	""	"pathogenic"	""
"0000263338"	"0"	"10"	"X"	"77268502"	"77268502"	"subst"	"0.237103"	"01943"	"ATP7A_000289"	"g.77268502G>C"	""	""	""	"ATP7A(NM_000052.6):c.2299G>C (p.V767L), ATP7A(NM_000052.7):c.2299G>C (p.V767L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78013005G>C"	""	"benign"	""
"0000263339"	"0"	"90"	"X"	"77268586"	"77268586"	"subst"	"0"	"01943"	"ATP7A_000074"	"g.77268586C>T"	""	""	""	"ATP7A(NM_000052.6):c.2383C>T (p.R795*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78013089C>T"	""	"pathogenic"	""
"0000263340"	"0"	"50"	"X"	"77268609"	"77268609"	"subst"	"0"	"01943"	"ATP7A_000393"	"g.77268609G>A"	""	""	""	"ATP7A(NM_000052.6):c.2406G>A (p.K802=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78013112G>A"	""	"VUS"	""
"0000263341"	"0"	"90"	"X"	"77271379"	"77271379"	"subst"	"0"	"01943"	"ATP7A_000172"	"g.77271379G>A"	""	""	""	"ATP7A(NM_000052.6):c.2626+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78015882G>A"	""	"pathogenic"	""
"0000263342"	"0"	"50"	"X"	"77275780"	"77275780"	"subst"	"0"	"01943"	"ATP7A_000394"	"g.77275780T>C"	""	""	""	"ATP7A(NM_000052.6):c.2666T>C (p.V889A), ATP7A(NM_000052.7):c.2666T>C (p.(Val889Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78020283T>C"	""	"VUS"	""
"0000263343"	"0"	"10"	"X"	"77276413"	"77276413"	"subst"	"0.245564"	"01943"	"ATP7A_000291"	"g.77276413C>A"	""	""	""	"ATP7A(NM_000052.6):c.2782-29C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78020916C>A"	""	"benign"	""
"0000263344"	"0"	"90"	"X"	"77276487"	"77276490"	"del"	"0"	"01943"	"ATP7A_000395"	"g.77276487_77276490del"	""	""	""	"ATP7A(NM_000052.6):c.2827_2830delCCTT (p.P943Lfs*15)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78020990_78020993del"	""	"pathogenic"	""
"0000263345"	"0"	"90"	"X"	"77276577"	"77276577"	"subst"	"0"	"01943"	"ATP7A_000176"	"g.77276577G>A"	""	""	""	"ATP7A(NM_000052.6):c.2916+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78021080G>A"	""	"pathogenic"	""
"0000263346"	"0"	"90"	"X"	"77284752"	"77284752"	"subst"	"0"	"01943"	"ATP7A_000397"	"g.77284752C>A"	""	""	""	"ATP7A(NM_000052.6):c.2922C>A (p.Y974*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78029255C>A"	""	"pathogenic"	""
"0000263347"	"0"	"90"	"X"	"77284768"	"77284768"	"subst"	"0"	"01943"	"ATP7A_000081"	"g.77284768C>T"	""	""	""	"ATP7A(NM_000052.6):c.2938C>T (p.R980*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78029271C>T"	""	"pathogenic"	""
"0000263348"	"0"	"50"	"X"	"77284879"	"77284881"	"delins"	"0"	"01943"	"ATP7A_000398"	"g.77284879_77284881delinsAGG"	""	""	""	"ATP7A(NM_000052.6):c.3049_3051delGGAinsAGG (p.G1017R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78029382_78029384delinsAGG"	""	"VUS"	""
"0000263349"	"0"	"30"	"X"	"77286939"	"77286939"	"subst"	"0.00020143"	"01943"	"ATP7A_000399"	"g.77286939C>T"	""	""	""	"ATP7A(NM_000052.6):c.3153C>T (p.H1051=), ATP7A(NM_000052.7):c.3153C>T (p.H1051=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78031441C>T"	""	"likely benign"	""
"0000263350"	"0"	"10"	"X"	"77243944"	"77243944"	"subst"	"0.0101625"	"01943"	"ATP7A_000281"	"g.77243944G>A"	""	""	""	"ATP7A(NM_000052.6):c.327G>A (p.K109=), ATP7A(NM_000052.7):c.327G>A (p.K109=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988448G>A"	""	"benign"	""
"0000263351"	"0"	"90"	"X"	"77289142"	"77289142"	"subst"	"0"	"01943"	"ATP7A_000401"	"g.77289142C>T"	""	""	""	"ATP7A(NM_000052.6):c.3334C>T (p.Q1112*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78033644C>T"	""	"pathogenic"	""
"0000263352"	"0"	"10"	"X"	"77294324"	"77294324"	"subst"	"0"	"01943"	"ATP7A_000292"	"g.77294324C>A"	""	""	""	"ATP7A(NM_000052.6):c.3512-10C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78038826C>A"	""	"benign"	""
"0000263353"	"0"	"90"	"X"	"77294453"	"77294453"	"subst"	"0"	"01943"	"ATP7A_000404"	"g.77294453C>A"	""	""	""	"ATP7A(NM_000052.6):c.3631C>A (p.R1211=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78038955C>A"	""	"pathogenic"	""
"0000263354"	"0"	"90"	"X"	"77296107"	"77296107"	"del"	"0"	"01943"	"ATP7A_000406"	"g.77296107del"	""	""	""	"ATP7A(NM_000052.6):c.3677delT (p.I1226Kfs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78040609del"	""	"pathogenic"	""
"0000263355"	"0"	"90"	"X"	"77296193"	"77296193"	"subst"	"0"	"01943"	"ATP7A_000127"	"g.77296193G>A"	""	""	""	"ATP7A(NM_000052.6):c.3763G>A (p.G1255R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78040695G>A"	""	"pathogenic"	""
"0000263356"	"0"	"90"	"X"	"77301041"	"77301042"	"del"	"0"	"01943"	"ATP7A_000051"	"g.77301041_77301042del"	""	""	""	"ATP7A(NM_000052.6):c.4198_4199delGT (p.V1400Sfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78045544_78045545del"	""	"pathogenic"	""
"0000263357"	"0"	"10"	"X"	"77301080"	"77301080"	"subst"	"0.00998823"	"01943"	"ATP7A_000294"	"g.77301080T>C"	""	""	""	"ATP7A(NM_000052.6):c.4226+11T>C, ATP7A(NM_000052.7):c.4226+11T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78045583T>C"	""	"benign"	""
"0000263358"	"0"	"50"	"X"	"77301920"	"77301920"	"subst"	"2.23801E-5"	"01943"	"ATP7A_000410"	"g.77301920G>C"	""	""	""	"ATP7A(NM_000052.6):c.4356G>C (p.L1452F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78046423G>C"	""	"VUS"	""
"0000263359"	"0"	"10"	"X"	"77244108"	"77244108"	"subst"	"0.000963861"	"01943"	"ATP7A_000368"	"g.77244108G>A"	""	""	""	"ATP7A(NM_000052.6):c.491G>A (p.S164N), ATP7A(NM_000052.7):c.491G>A (p.(Ser164Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988612G>A"	""	"benign"	""
"0000334737"	"0"	"30"	"X"	"77224487"	"77224487"	"subst"	"7.83883E-5"	"01804"	"ATP7A_000359"	"g.77224487C>T"	""	""	""	"PGAM4(NM_001029891.2):c.649G>A (p.(Val217Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77968990C>T"	""	"likely benign"	""
"0000334738"	"0"	"50"	"X"	"77224694"	"77224694"	"subst"	"0"	"01804"	"ATP7A_000360"	"g.77224694C>G"	""	""	""	"PGAM4(NM_001029891.2):c.442G>C (p.(Asp148His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77969197C>G"	""	"VUS"	""
"0000334740"	"0"	"50"	"X"	"77225017"	"77225017"	"subst"	"5.61577E-6"	"01804"	"ATP7A_000362"	"g.77225017C>T"	""	""	""	"PGAM4(NM_001029891.2):c.119G>A (p.(Arg40His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77969520C>T"	""	"VUS"	""
"0000334742"	"0"	"50"	"X"	"77227230"	"77227230"	"subst"	"0"	"01804"	"ATP7A_000364"	"g.77227230G>A"	""	""	""	"ATP7A(NM_000052.5):c.92G>A (p.(Gly31Glu)), ATP7A(NM_000052.6):c.92G>A (p.G31E), ATP7A(NM_000052.7):c.92G>A (p.G31E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77971733G>A"	""	"VUS"	""
"0000334743"	"0"	"30"	"X"	"77244027"	"77244027"	"subst"	"0"	"01804"	"ATP7A_000367"	"g.77244027A>G"	""	""	""	"ATP7A(NM_000052.5):c.410A>G (p.(Asn137Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988531A>G"	""	"likely benign"	""
"0000334744"	"0"	"30"	"X"	"77244108"	"77244108"	"subst"	"0.000963861"	"01804"	"ATP7A_000368"	"g.77244108G>A"	""	""	""	"ATP7A(NM_000052.6):c.491G>A (p.S164N), ATP7A(NM_000052.7):c.491G>A (p.(Ser164Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988612G>A"	""	"likely benign"	""
"0000334745"	"0"	"30"	"X"	"77244235"	"77244235"	"subst"	"0.00124775"	"01804"	"ATP7A_000371"	"g.77244235G>A"	""	""	""	"ATP7A(NM_000052.5):c.610+8G>A (p.(=)), ATP7A(NM_000052.7):c.610+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77988739G>A"	""	"likely benign"	""
"0000334747"	"0"	"30"	"X"	"77245127"	"77245127"	"subst"	"0.000633397"	"01804"	"ATP7A_000312"	"g.77245127G>A"	""	""	""	"ATP7A(NM_000052.5):c.1009G>A (p.(Ala337Thr)), ATP7A(NM_000052.6):c.1009G>A (p.A337T), ATP7A(NM_000052.7):c.1009G>A (p.A337T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77989631G>A"	""	"likely benign"	""
"0000334749"	"0"	"50"	"X"	"77245297"	"77245297"	"subst"	"0"	"01804"	"ATP7A_000379"	"g.77245297G>T"	""	""	""	"ATP7A(NM_000052.5):c.1179G>T (p.(Gln393His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77989801G>T"	""	"VUS"	""
"0000334751"	"0"	"50"	"X"	"77266954"	"77266954"	"subst"	"0.000302545"	"01804"	"ATP7A_000388"	"g.77266954G>A"	""	""	""	"ATP7A(NM_000052.5):c.1955G>A (p.(Arg652Gln)), ATP7A(NM_000052.7):c.1955G>A (p.R652Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78011457G>A"	""	"VUS"	""
"0000334752"	"0"	"50"	"X"	"77268516"	"77268516"	"subst"	"5.59331E-6"	"01804"	"ATP7A_000392"	"g.77268516G>C"	""	""	""	"ATP7A(NM_000052.5):c.2313G>C (p.(Glu771Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78013019G>C"	""	"VUS"	""
"0000334755"	"0"	"30"	"X"	"77301825"	"77301825"	"subst"	"0"	"01804"	"ATP7A_000408"	"g.77301825C>T"	""	""	""	"ATP7A(NM_000052.5):c.4261C>T (p.(Pro1421Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78046328C>T"	""	"likely benign"	""
"0000334756"	"0"	"30"	"X"	"77301831"	"77301831"	"subst"	"3.35935E-5"	"01804"	"ATP7A_000409"	"g.77301831C>T"	""	""	""	"ATP7A(NM_000052.5):c.4267C>T (p.(Arg1423Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78046334C>T"	""	"likely benign"	""
"0000334757"	"0"	"30"	"X"	"77301954"	"77301954"	"subst"	"0.00129833"	"01804"	"ATP7A_000296"	"g.77301954A>G"	""	""	""	"ATP7A(NM_000052.5):c.4390A>G (p.(Ile1464Val)), ATP7A(NM_000052.6):c.4390A>G (p.I1464V), ATP7A(NM_000052.7):c.4390A>G (p.I1464V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78046457A>G"	""	"likely benign"	""
"0000334758"	"0"	"50"	"X"	"77301975"	"77301975"	"subst"	"0"	"01804"	"ATP7A_000411"	"g.77301975A>C"	""	""	""	"ATP7A(NM_000052.5):c.4411A>C (p.(Lys1471Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78046478A>C"	""	"VUS"	""
"0000338756"	"0"	"30"	"X"	"77294484"	"77294484"	"subst"	"0"	"02327"	"ATP7A_000414"	"g.77294484A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78038986A>G"	""	"likely benign"	""
"0000341094"	"0"	"50"	"X"	"77284933"	"77284933"	"subst"	"0"	"02327"	"ATP7A_000413"	"g.77284933G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78029436G>A"	""	"VUS"	""
"0000342847"	"0"	"30"	"X"	"77225018"	"77225018"	"subst"	"2.80724E-5"	"02327"	"ATP7A_000412"	"g.77225018G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.77969521G>A"	""	"likely benign"	""
"0000348189"	"0"	"70"	"X"	"77300999"	"77300999"	"subst"	"0"	"02327"	"ATP7A_000142"	"g.77300999C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.78045502C>T"	""	"likely pathogenic"	""
"0000393087"	"1"	"50"	"X"	"77224879"	"77224879"	"subst"	"0.044163"	"00124"	"PGAM4_000001"	"g.77224879C>T"	"10/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	""	"recurrent, found 10 times"	"Germline"	""	""	"0"	""	""	"g.77969382C>T"	""	"VUS"	""
"0000393088"	"1"	"50"	"X"	"77225099"	"77225099"	"subst"	"0.00328805"	"00124"	"PGAM4_000002"	"g.77225099C>T"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	""	"found once, nonrecurrent change"	"Germline"	""	""	"0"	""	""	"g.77969602C>T"	""	"VUS"	""
"0000408061"	"21"	"90"	"X"	"77223458"	"77245454"	"del"	"0"	"00006"	"ATP7A_000416"	"g.77223458_77245454del"	""	"{PMID:Hu 2016:25644381}"	""	"ATP7A"	""	"Germline"	"yes"	""	"0"	""	""	"g.77967961_77989957del"	""	"pathogenic"	""
"0000577531"	"0"	"30"	"X"	"77225057"	"77225057"	"subst"	"0.000391972"	"01943"	"PGAM4_000003"	"g.77225057C>T"	""	""	""	"PGAM4(NM_001029891.2):c.79G>A (p.D27N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77969560C>T"	""	"likely benign"	""
"0000577532"	"0"	"50"	"X"	"77244149"	"77244149"	"subst"	"5.61265E-6"	"02327"	"PGAM4_000004"	"g.77244149G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77988653G>A"	""	"VUS"	""
"0000577533"	"0"	"10"	"X"	"77244182"	"77244182"	"subst"	"0.00193238"	"02330"	"ATP7A_000370"	"g.77244182A>G"	""	""	""	"ATP7A(NM_000052.5):c.565A>G (p.(Ile189Val)), ATP7A(NM_000052.7):c.565A>G (p.I189V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77988686A>G"	""	"benign"	""
"0000577534"	"0"	"30"	"X"	"77244182"	"77244182"	"subst"	"0.00193238"	"01804"	"ATP7A_000370"	"g.77244182A>G"	""	""	""	"ATP7A(NM_000052.5):c.565A>G (p.(Ile189Val)), ATP7A(NM_000052.7):c.565A>G (p.I189V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77988686A>G"	""	"likely benign"	""
"0000577536"	"0"	"10"	"X"	"77245127"	"77245127"	"subst"	"0.000633397"	"01943"	"ATP7A_000312"	"g.77245127G>A"	""	""	""	"ATP7A(NM_000052.5):c.1009G>A (p.(Ala337Thr)), ATP7A(NM_000052.6):c.1009G>A (p.A337T), ATP7A(NM_000052.7):c.1009G>A (p.A337T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77989631G>A"	""	"benign"	""
"0000577537"	"0"	"30"	"X"	"77245127"	"77245127"	"subst"	"0.000633397"	"02326"	"ATP7A_000312"	"g.77245127G>A"	""	""	""	"ATP7A(NM_000052.5):c.1009G>A (p.(Ala337Thr)), ATP7A(NM_000052.6):c.1009G>A (p.A337T), ATP7A(NM_000052.7):c.1009G>A (p.A337T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77989631G>A"	""	"likely benign"	""
"0000577538"	"0"	"30"	"X"	"77253971"	"77253971"	"subst"	"0"	"01804"	"PGAM4_000006"	"g.77253971C>T"	""	""	""	"ATP7A(NM_000052.5):c.1337-4C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77998474C>T"	""	"likely benign"	""
"0000577539"	"0"	"30"	"X"	"77254023"	"77254023"	"subst"	"2.80029E-5"	"01943"	"PGAM4_000007"	"g.77254023C>T"	""	""	""	"ATP7A(NM_000052.6):c.1385C>T (p.P462L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77998526C>T"	""	"likely benign"	""
"0000577540"	"0"	"30"	"X"	"77254065"	"77254065"	"subst"	"4.48194E-5"	"01804"	"PGAM4_000008"	"g.77254065C>T"	""	""	""	"ATP7A(NM_000052.5):c.1427C>T (p.(Thr476Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77998568C>T"	""	"likely benign"	""
"0000577541"	"0"	"30"	"X"	"77254131"	"77254131"	"subst"	"5.60724E-6"	"02327"	"PGAM4_000009"	"g.77254131C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77998634C>G"	""	"likely benign"	""
"0000577542"	"0"	"10"	"X"	"77254154"	"77254154"	"subst"	"0.00191419"	"02330"	"ATP7A_000384"	"g.77254154A>G"	""	""	""	"ATP7A(NM_000052.5):c.1516A>G (p.(Ile506Val)), ATP7A(NM_000052.7):c.1516A>G (p.I506V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77998657A>G"	""	"benign"	""
"0000577543"	"0"	"30"	"X"	"77254154"	"77254154"	"subst"	"0.00191419"	"01804"	"ATP7A_000384"	"g.77254154A>G"	""	""	""	"ATP7A(NM_000052.5):c.1516A>G (p.(Ile506Val)), ATP7A(NM_000052.7):c.1516A>G (p.I506V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77998657A>G"	""	"likely benign"	""
"0000577544"	"0"	"30"	"X"	"77264758"	"77264758"	"subst"	"5.60667E-6"	"01943"	"PGAM4_000010"	"g.77264758G>A"	""	""	""	"ATP7A(NM_000052.6):c.1867G>A (p.E623K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78009261G>A"	""	"likely benign"	""
"0000577545"	"0"	"50"	"X"	"77266688"	"77266688"	"subst"	"0"	"02327"	"ATP7A_000089"	"g.77266688G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78011191G>C"	""	"VUS"	""
"0000577546"	"0"	"30"	"X"	"77266696"	"77266696"	"subst"	"7.27566E-5"	"01804"	"PGAM4_000012"	"g.77266696G>C"	""	""	""	"ATP7A(NM_000052.5):c.1893G>C (p.(Leu631Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78011199G>C"	""	"likely benign"	""
"0000577547"	"0"	"50"	"X"	"77268470"	"77268470"	"subst"	"0"	"02327"	"PGAM4_000013"	"g.77268470T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78012973T>G"	""	"VUS"	""
"0000577548"	"0"	"50"	"X"	"77271283"	"77271283"	"subst"	"0.000218339"	"02330"	"ATP7A_000103"	"g.77271283G>A"	""	""	""	"ATP7A(NM_000052.7):c.2531G>A (p.R844H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78015786G>A"	""	"VUS"	""
"0000577549"	"0"	"30"	"X"	"77275801"	"77275801"	"subst"	"0"	"01804"	"PGAM4_000015"	"g.77275801A>G"	""	""	""	"ATP7A(NM_000052.5):c.2687A>G (p.(Gln896Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78020304A>G"	""	"likely benign"	""
"0000577551"	"0"	"90"	"X"	"77286962"	"77286966"	"del"	"0"	"01943"	"PGAM4_000016"	"g.77286962_77286966del"	""	""	""	"ATP7A(NM_000052.6):c.3176_3180delTAAAG (p.V1059Gfs*4)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78031464_78031468del"	""	"pathogenic"	""
"0000577552"	"0"	"30"	"X"	"77289307"	"77289307"	"subst"	"0"	"01804"	"PGAM4_000017"	"g.77289307G>A"	""	""	""	"ATP7A(NM_000052.5):c.3499G>A (p.(Ala1167Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78033809G>A"	""	"likely benign"	""
"0000577553"	"0"	"30"	"X"	"77298875"	"77298875"	"subst"	"0.000599279"	"01804"	"PGAM4_000018"	"g.77298875C>T"	""	""	""	"ATP7A(NM_000052.5):c.4066C>T (p.(Arg1356Trp)), ATP7A(NM_000052.6):c.4066C>T (p.R1356W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78043377C>T"	""	"likely benign"	""
"0000577554"	"0"	"30"	"X"	"77298876"	"77298876"	"subst"	"0.000184799"	"01943"	"PGAM4_000019"	"g.77298876G>A"	""	""	""	"ATP7A(NM_000052.6):c.4067G>A (p.R1356Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78043378G>A"	""	"likely benign"	""
"0000577555"	"0"	"10"	"X"	"77301044"	"77301044"	"subst"	"0.00122865"	"02330"	"PGAM4_000020"	"g.77301044G>C"	""	""	""	"ATP7A(NM_000052.5):c.4201G>C (p.(Val1401Leu)), ATP7A(NM_000052.6):c.4201G>C (p.V1401L), ATP7A(NM_000052.7):c.4201G>C (p.V1401L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78045547G>C"	""	"benign"	""
"0000577556"	"0"	"10"	"X"	"77301044"	"77301044"	"subst"	"0.00122865"	"01943"	"PGAM4_000020"	"g.77301044G>C"	""	""	""	"ATP7A(NM_000052.5):c.4201G>C (p.(Val1401Leu)), ATP7A(NM_000052.6):c.4201G>C (p.V1401L), ATP7A(NM_000052.7):c.4201G>C (p.V1401L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78045547G>C"	""	"benign"	""
"0000577557"	"0"	"10"	"X"	"77301954"	"77301954"	"subst"	"0.00129833"	"02330"	"ATP7A_000296"	"g.77301954A>G"	""	""	""	"ATP7A(NM_000052.5):c.4390A>G (p.(Ile1464Val)), ATP7A(NM_000052.6):c.4390A>G (p.I1464V), ATP7A(NM_000052.7):c.4390A>G (p.I1464V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78046457A>G"	""	"benign"	""
"0000577558"	"0"	"10"	"X"	"77301954"	"77301954"	"subst"	"0.00129833"	"01943"	"ATP7A_000296"	"g.77301954A>G"	""	""	""	"ATP7A(NM_000052.5):c.4390A>G (p.(Ile1464Val)), ATP7A(NM_000052.6):c.4390A>G (p.I1464V), ATP7A(NM_000052.7):c.4390A>G (p.I1464V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78046457A>G"	""	"benign"	""
"0000619905"	"0"	"50"	"X"	"77227230"	"77227230"	"subst"	"0"	"02325"	"ATP7A_000364"	"g.77227230G>A"	""	""	""	"ATP7A(NM_000052.5):c.92G>A (p.(Gly31Glu)), ATP7A(NM_000052.6):c.92G>A (p.G31E), ATP7A(NM_000052.7):c.92G>A (p.G31E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77971733G>A"	""	"VUS"	""
"0000619906"	"0"	"10"	"X"	"77244235"	"77244235"	"subst"	"0.00124775"	"02330"	"ATP7A_000371"	"g.77244235G>A"	""	""	""	"ATP7A(NM_000052.5):c.610+8G>A (p.(=)), ATP7A(NM_000052.7):c.610+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77988739G>A"	""	"benign"	""
"0000619907"	"0"	"30"	"X"	"77245127"	"77245127"	"subst"	"0.000633397"	"02330"	"ATP7A_000312"	"g.77245127G>A"	""	""	""	"ATP7A(NM_000052.5):c.1009G>A (p.(Ala337Thr)), ATP7A(NM_000052.6):c.1009G>A (p.A337T), ATP7A(NM_000052.7):c.1009G>A (p.A337T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77989631G>A"	""	"likely benign"	""
"0000619909"	"0"	"30"	"X"	"77276567"	"77276567"	"subst"	"3.93533E-5"	"01943"	"PGAM4_000027"	"g.77276567C>G"	""	""	""	"ATP7A(NM_000052.6):c.2907C>G (p.T969=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78021070C>G"	""	"likely benign"	""
"0000619910"	"0"	"30"	"X"	"77301044"	"77301044"	"subst"	"0.00122865"	"01804"	"PGAM4_000020"	"g.77301044G>C"	""	""	""	"ATP7A(NM_000052.5):c.4201G>C (p.(Val1401Leu)), ATP7A(NM_000052.6):c.4201G>C (p.V1401L), ATP7A(NM_000052.7):c.4201G>C (p.V1401L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78045547G>C"	""	"likely benign"	""
"0000619911"	"0"	"10"	"X"	"77301953"	"77301953"	"subst"	"0.000240647"	"02330"	"PGAM4_000029"	"g.77301953T>C"	""	""	""	"ATP7A(NM_000052.6):c.4389T>C (p.S1463=), ATP7A(NM_000052.7):c.4389T>C (p.S1463=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78046456T>C"	""	"benign"	""
"0000624727"	"0"	"30"	"X"	"77166340"	"77166340"	"subst"	"0"	"01943"	"PGAM4_000021"	"g.77166340C>G"	""	""	""	"ATP7A(NM_000052.6):c.-22+8C>G, ATP7A(NM_000052.7):c.-22+8C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77910843C>G"	""	"likely benign"	""
"0000624728"	"0"	"50"	"X"	"77243763"	"77243763"	"subst"	"0"	"02330"	"PGAM4_000022"	"g.77243763C>T"	""	""	""	"ATP7A(NM_000052.7):c.146C>T (p.T49I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77988267C>T"	""	"VUS"	""
"0000624729"	"0"	"30"	"X"	"77244763"	"77244763"	"subst"	"5.0784E-5"	"01943"	"PGAM4_000023"	"g.77244763T>C"	""	""	""	"ATP7A(NM_000052.6):c.645T>C (p.Y215=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.77989267T>C"	""	"likely benign"	""
"0000624730"	"0"	"30"	"X"	"77270204"	"77270204"	"subst"	"0.000348405"	"01943"	"PGAM4_000024"	"g.77270204A>G"	""	""	""	"ATP7A(NM_000052.6):c.2452A>G (p.T818A), ATP7A(NM_000052.7):c.2452A>G (p.T818A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78014707A>G"	""	"likely benign"	""
"0000624731"	"0"	"30"	"X"	"77275823"	"77275823"	"subst"	"0.000162232"	"01943"	"PGAM4_000025"	"g.77275823C>T"	""	""	""	"ATP7A(NM_000052.6):c.2709C>T (p.C903=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78020326C>T"	""	"likely benign"	""
"0000624733"	"0"	"10"	"X"	"77301080"	"77301080"	"subst"	"0.00998823"	"02330"	"ATP7A_000294"	"g.77301080T>C"	""	""	""	"ATP7A(NM_000052.6):c.4226+11T>C, ATP7A(NM_000052.7):c.4226+11T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78045583T>C"	""	"benign"	""
"0000624888"	"3"	"90"	"X"	"77264597"	"77264597"	"subst"	"0"	"01807"	"ATP7A_000417"	"g.77264597A>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.78009100A>G"	""	"pathogenic"	""
"0000652955"	"1"	"90"	"X"	"77268374"	"77268374"	"subst"	"0"	"03575"	"ATP7A_000418"	"g.77268374A>G"	"2/2758 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs797045349}"	"Germline"	""	"rs797045349"	"0"	""	""	"g.78012877A>G"	""	"pathogenic"	""
"0000652956"	"0"	"50"	"X"	"77276563"	"77276563"	"subst"	"0.000719247"	"03575"	"ATP7A_000396"	"g.77276563A>G"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 homozygous, no heterozygous ; {DB:CLININrs138958687}"	"Germline"	""	"rs138958687"	"0"	""	""	"g.78021066A>G"	""	"VUS"	""
"0000652957"	"1"	"50"	"X"	"77284832"	"77284832"	"subst"	"0"	"03575"	"ATP7A_000114"	"g.77284832C>T"	"3/2737 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs797045365}"	"Germline"	""	"rs797045365"	"0"	""	""	"g.78029335C>T"	""	"VUS"	""
"0000652958"	"1"	"90"	"X"	"77298082"	"77298082"	"subst"	"0"	"03575"	"ATP7A_000419"	"g.77298082G>T"	"1/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs398123135}"	"Germline"	""	"rs398123135"	"0"	""	""	"g.78042584G>T"	""	"pathogenic"	""
"0000659456"	"0"	"30"	"X"	"77258641"	"77258641"	"subst"	"8.391E-5"	"01943"	"PGAM4_000030"	"g.77258641C>A"	""	""	""	"ATP7A(NM_000052.6):c.1615C>A (p.P539T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78003144C>A"	""	"likely benign"	""
"0000659457"	"0"	"30"	"X"	"77267042"	"77267042"	"subst"	"0"	"01943"	"PGAM4_000031"	"g.77267042T>C"	""	""	""	"ATP7A(NM_000052.6):c.2043T>C (p.L681=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78011545T>C"	""	"likely benign"	""
"0000659458"	"0"	"10"	"X"	"77268502"	"77268502"	"subst"	"0.237103"	"02327"	"ATP7A_000289"	"g.77268502G>C"	""	""	""	"ATP7A(NM_000052.6):c.2299G>C (p.V767L), ATP7A(NM_000052.7):c.2299G>C (p.V767L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78013005G>C"	""	"benign"	""
"0000659459"	"0"	"30"	"X"	"77271271"	"77271271"	"subst"	"0.000296691"	"01943"	"PGAM4_000032"	"g.77271271A>T"	""	""	""	"ATP7A(NM_000052.6):c.2519A>T (p.E840V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78015774A>T"	""	"likely benign"	""
"0000659460"	"0"	"50"	"X"	"77276487"	"77276487"	"subst"	"5.60422E-6"	"02330"	"PGAM4_000033"	"g.77276487C>T"	""	""	""	"ATP7A(NM_000052.7):c.2827C>T (p.P943S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78020990C>T"	""	"VUS"	""
"0000659461"	"0"	"30"	"X"	"77276563"	"77276563"	"subst"	"0.000719247"	"02330"	"ATP7A_000396"	"g.77276563A>G"	""	""	""	"ATP7A(NM_000052.6):c.2903A>G (p.E968G), ATP7A(NM_000052.7):c.2903A>G (p.E968G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.78021066A>G"	""	"likely benign"	""
"0000660695"	"0"	"50"	"X"	"77266953"	"77266953"	"subst"	"3.92216E-5"	"01164"	"ATP7A_000387"	"g.77266953C>T"	""	""	""	""	""	"Germline"	""	"rs377714939"	"0"	""	""	"g.78011456C>T"	""	"VUS"	""
"0000664045"	"0"	"70"	"X"	"77268506"	"77268506"	"subst"	"1.11866E-5"	"00006"	"ATP7A_000420"	"g.77268506C>G"	""	"{PMID:Antoniadi 2015:26392352}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78013009C>G"	""	"likely pathogenic (recessive)"	""
"0000682652"	"0"	"10"	"X"	"77243944"	"77243944"	"subst"	"0.0101625"	"02329"	"ATP7A_000281"	"g.77243944G>A"	""	""	""	"ATP7A(NM_000052.6):c.327G>A (p.K109=), ATP7A(NM_000052.7):c.327G>A (p.K109=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000682653"	"0"	"50"	"X"	"77245079"	"77245079"	"subst"	"0"	"01943"	"PGAM4_000005"	"g.77245079T>C"	""	""	""	"ATP7A(NM_000052.6):c.961T>C (p.Y321H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000682655"	"0"	"30"	"X"	"77254022"	"77254022"	"subst"	"2.80016E-5"	"01943"	"PGAM4_000035"	"g.77254022C>G"	""	""	""	"ATP7A(NM_000052.6):c.1384C>G (p.P462A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682656"	"0"	"50"	"X"	"77267038"	"77267038"	"subst"	"1.67913E-5"	"02330"	"PGAM4_000036"	"g.77267038C>T"	""	""	""	"ATP7A(NM_000052.7):c.2039C>T (p.T680I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000682657"	"0"	"50"	"X"	"77268390"	"77268390"	"subst"	"0"	"01943"	"PGAM4_000037"	"g.77268390G>C"	""	""	""	"ATP7A(NM_000052.6):c.2187G>C (p.W729C), ATP7A(NM_000052.7):c.2187G>C (p.W729C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000682658"	"0"	"30"	"X"	"77268428"	"77268428"	"subst"	"2.79741E-5"	"01943"	"PGAM4_000038"	"g.77268428A>G"	""	""	""	"ATP7A(NM_000052.6):c.2225A>G (p.K742R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682659"	"0"	"30"	"X"	"77268444"	"77268444"	"subst"	"7.27269E-5"	"01943"	"PGAM4_000039"	"g.77268444C>T"	""	""	""	"ATP7A(NM_000052.6):c.2241C>T (p.D747=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682660"	"0"	"30"	"X"	"77268448"	"77268448"	"subst"	"5.59416E-6"	"01943"	"PGAM4_000040"	"g.77268448C>T"	""	""	""	"ATP7A(NM_000052.6):c.2245C>T (p.L749=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682661"	"0"	"50"	"X"	"77289257"	"77289257"	"subst"	"8.95796E-5"	"01943"	"PGAM4_000041"	"g.77289257T>C"	""	""	""	"ATP7A(NM_000052.6):c.3449T>C (p.I1150T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000682662"	"0"	"30"	"X"	"77294443"	"77294443"	"subst"	"0.00015117"	"01943"	"PGAM4_000028"	"g.77294443G>A"	""	""	""	"ATP7A(NM_000052.6):c.3621G>A (p.E1207=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682663"	"0"	"30"	"X"	"77294463"	"77294463"	"subst"	"0"	"01943"	"PGAM4_000042"	"g.77294463T>C"	""	""	""	"ATP7A(NM_000052.6):c.3641T>C (p.V1214A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682664"	"0"	"30"	"X"	"77298847"	"77298847"	"subst"	"5.60356E-6"	"01943"	"PGAM4_000043"	"g.77298847C>T"	""	""	""	"ATP7A(NM_000052.6):c.4038C>T (p.D1346=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682665"	"0"	"30"	"X"	"77298875"	"77298875"	"subst"	"0.000599279"	"01943"	"PGAM4_000018"	"g.77298875C>T"	""	""	""	"ATP7A(NM_000052.5):c.4066C>T (p.(Arg1356Trp)), ATP7A(NM_000052.6):c.4066C>T (p.R1356W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682666"	"0"	"30"	"X"	"77301953"	"77301953"	"subst"	"0.000240647"	"01943"	"PGAM4_000029"	"g.77301953T>C"	""	""	""	"ATP7A(NM_000052.6):c.4389T>C (p.S1463=), ATP7A(NM_000052.7):c.4389T>C (p.S1463=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682823"	"0"	"50"	"X"	"77245419"	"77245419"	"subst"	"0"	"00006"	"ATP7A_000421"	"g.77245419C>A"	""	"{PMID:Fliedner 2020:32730804}, {DOI:Fliedner 2020:10.1016/j.ajhg.2020.06.019}"	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000693752"	"0"	"30"	"X"	"77243785"	"77243785"	"subst"	"0"	"01943"	"PGAM4_000044"	"g.77243785A>G"	""	""	""	"ATP7A(NM_000052.6):c.168A>G (p.L56=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693753"	"0"	"30"	"X"	"77270204"	"77270204"	"subst"	"0.000348405"	"02330"	"PGAM4_000024"	"g.77270204A>G"	""	""	""	"ATP7A(NM_000052.6):c.2452A>G (p.T818A), ATP7A(NM_000052.7):c.2452A>G (p.T818A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693754"	"0"	"30"	"X"	"77271275"	"77271275"	"subst"	"0"	"01943"	"PGAM4_000045"	"g.77271275T>C"	""	""	""	"ATP7A(NM_000052.6):c.2523T>C (p.L841=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693755"	"0"	"30"	"X"	"77271282"	"77271282"	"subst"	"0.000134354"	"01943"	"PGAM4_000046"	"g.77271282C>T"	""	""	""	"ATP7A(NM_000052.6):c.2530C>T (p.R844C), ATP7A(NM_000052.7):c.2530C>T (p.R844C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000695170"	"0"	"97"	"X"	"77166194"	"77166333"	""	"0"	"01594"	"ATP7A_000001"	"g.(?_77166194)_(77166333_77227117)del"	""	"{PMID:Levinson 1996:8923001}"	""	"c.-160u-646?_-160u-548?del"	"Deletion of one of the three 98-bp tandem repeats in the promoter region; normal levels with qRT-PCR. No effect on the site of transcription initiation, termination, splicing."	"Germline"	""	""	"0"	""	""	"g.(?_77910697)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695171"	"0"	"97"	"X"	"77244025"	"77244032"	"del"	"0"	"01594"	"ATP7A_000002"	"g.77244025_77244032del"	""	"{PMID:Gerard-Blanluet 2004:15372525}"	""	"408_415delCAATCAGA"	"Normal size (frame shift)"	"De novo"	""	""	"0"	""	""	"g.77988529_77988536del"	""	"pathogenic (recessive)"	""
"0000695172"	"0"	"97"	"X"	"77244143"	"77244146"	"dup"	"0"	"01594"	"ATP7A_000004"	"g.77244143_77244146dup"	""	"{PMID:Tümer 1997:8981948}"	""	"177insAAG"	""	"Germline"	""	""	"0"	""	""	"g.77988647_77988650dup"	""	"pathogenic (recessive)"	""
"0000695173"	"0"	"97"	"X"	"77244775"	"77244779"	"del"	"0"	"01594"	"ATP7A_000005"	"g.77244775_77244779del"	""	"{PMID:Das 1994:7977350}"	""	"ATCTT deletion from 798-802"	"decreased mRNA level with NB"	"Germline"	""	""	"0"	""	""	"g.77989279_77989283del"	""	"pathogenic (recessive)"	""
"0000695174"	"0"	"97"	"X"	"77244777"	"77244781"	"del"	"0"	"01594"	"ATP7A_000006"	"g.77244777_77244781del"	""	"{PMID:Das 1994:7977350}, {PMID:Vulpe 1993:8490659}"	""	"ATCTC deletion from 803-807"	"decreased mRNA level with NB"	"Germline"	""	""	"0"	""	""	"g.77989281_77989285del"	""	"pathogenic (recessive)"	""
"0000695175"	"21"	"97"	"X"	"77245008"	"77245008"	"del"	"0"	"01594"	"ATP7A_000009"	"g.77245008del"	""	"{PMID:Tümer 1996:8528242}, {PMID:George and Casey 2001:11370266}"	""	"Del G in codon 297"	"Normal size (frame shift)"	"Germline"	""	""	"0"	""	""	"g.77989512del"	""	"pathogenic (recessive)"	""
"0000695176"	"0"	"97"	"X"	"77245146"	"77245146"	"dup"	"0"	"01594"	"ATP7A_000010"	"g.77245146dup"	""	"{PMID:Ogawa 1999:10319589}"	""	"1173 ins A"	""	"Germline"	""	""	"0"	""	""	"g.77989650dup"	""	"pathogenic (recessive)"	""
"0000695177"	"21"	"97"	"X"	"77245253"	"77245253"	"del"	"0"	"01594"	"ATP7A_000011"	"g.77245253del"	""	"{PMID:Tümer 1997:8981948}"	""	"379delA"	""	"Germline"	""	""	"0"	""	""	"g.77989757del"	""	"pathogenic (recessive)"	""
"0000695178"	"21"	"97"	"X"	"77245352"	"77245352"	"del"	"0"	"01594"	"ATP7A_000013"	"g.77245352del"	""	"{PMID:Tümer 1997:8981948}"	""	"412delC"	""	"Germline"	""	""	"0"	""	""	"g.77989856del"	""	"pathogenic (recessive)"	""
"0000695179"	"0"	"97"	"X"	"77264639"	"77264640"	"del"	"0"	"01594"	"ATP7A_000014"	"g.77264639_77264640del"	""	"{PMID:Das 1994:7977350}"	""	"AG deletion from 1893-1894 in 162-bp exon"	""	"Germline"	""	""	"0"	""	""	"g.78009142_78009143del"	""	"pathogenic (recessive)"	""
"0000695180"	"0"	"97"	"X"	"77264639"	"77264640"	"del"	"0"	"01594"	"ATP7A_000014"	"g.77264639_77264640del"	""	"{PMID:Gu 2001:11241493}"	""	"del 1893AG (I582frame shift584X)"	""	"Germline"	""	""	"0"	""	""	"g.78009142_78009143del"	""	"pathogenic (recessive)"	""
"0000695181"	"21"	"97"	"X"	"77264661"	"77264662"	"del"	"0"	"01594"	"ATP7A_000015"	"g.77264661_77264662del"	""	"{PMID:Tümer 1997:8981948}"	""	"590-591delAG"	""	"Germline"	""	""	"0"	""	""	"g.78009164_78009165del"	""	"pathogenic (recessive)"	""
"0000695182"	"21"	"97"	"X"	"77264671"	"77264671"	"dup"	"0"	"01594"	"ATP7A_000016"	"g.77264671dup"	""	"{PMID:Tümer 1997:8981948}"	""	"594insT"	""	"Germline"	""	""	"0"	""	""	"g.78009174dup"	""	"pathogenic (recessive)"	""
"0000695183"	"21"	"97"	"X"	"77264709"	"77264709"	"del"	"0"	"01594"	"ATP7A_000017"	"g.77264709del"	""	"{PMID:Tümer 1997:8981948}"	""	"606delT"	""	"Germline"	""	""	"0"	""	""	"g.78009212del"	""	"pathogenic (recessive)"	""
"0000695184"	"0"	"97"	"X"	"77266687"	"77266687"	"dup"	"0"	"01594"	"ATP7A_000019"	"g.77266687dup"	""	"{PMID:Gu 2001:11241493}"	""	"ins 2030 A (E628frame shift644X)"	""	"Germline"	""	""	"0"	""	""	"g.78011190dup"	""	"pathogenic (recessive)"	""
"0000695185"	"0"	"97"	"X"	"77266947"	"77266948"	"ins"	"0"	"01594"	"ATP7A_000020"	"g.77266947_77266948insAAGAT"	""	"{PMID:Das 1994:7977350}, {PMID:Kaler 1996:8812725}, {PMID:Kim 2003:12676902}, {PMID:Kaler 2010:20652413},  {PMID:Skjørringe 2011:21494555}, {PMID:Bell 2011:21228398}"	""	"ataagAT->ataagATAAGAT junction 2091/2092"	"2 transcripts: 1.normal size (frame shift); 2. Ex8 skipped+ 5 bp insertion (in-frame) (Kaler 2010); NB: decreased mRNA level (Kim 2003); in high Cu trafficking deficient, remains in TGN; retains tyrosinase activation >functional Cu transport"	"Germline"	""	""	"0"	""	""	"g.78011446_78011450dup"	""	"pathogenic (recessive)"	""
"0000695186"	"0"	"97"	"X"	"77267056"	"77267056"	"del"	"0"	"01594"	"ATP7A_000021"	"g.77267056del"	""	"{PMID:Tümer 1997:8981948}"	""	"686delA"	""	"Germline"	""	""	"0"	""	""	"g.78011559del"	""	"pathogenic (recessive)"	""
"0000695187"	"0"	"97"	"X"	"0"	"0"	"ins"	"0"	"01594"	"ATP7A_000022"	"g.?"	""	"{PMID:Gu 2007:17178205}, {PMID:Gu2012:22361452}"	""	"Not described"	"r.1947_2172del226 (Ex9 skips, in-frame), insertion of AluYa5a2 sequence"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695188"	"0"	"97"	"X"	"77267158"	"77267158"	"del"	"0"	"01594"	"ATP7A_000023"	"g.77267158del"	""	"{PMID:Moizard 2010:21208200}"	""	"2159delG"	""	"Germline"	""	""	"0"	""	""	"g.78011661del"	""	"pathogenic (recessive)"	""
"0000695189"	"21"	"97"	"X"	"77268409"	"77268409"	"dup"	"0"	"01594"	"ATP7A_000024"	"g.77268409dup"	""	"{PMID:Tümer 1997:8981948}"	""	"735insT"	""	"Germline"	""	""	"0"	""	""	"g.78012912dup"	""	"pathogenic (recessive)"	""
"0000695190"	"0"	"97"	"X"	"77268487"	"77268488"	"del"	"0"	"01594"	"ATP7A_000025"	"g.77268487_77268488del"	""	"{PMID:Tümer 1997:8981948}"	""	"762delTT"	""	"De novo"	""	""	"0"	""	""	"g.78012990_78012991del"	""	"pathogenic (recessive)"	""
"0000695191"	"0"	"97"	"X"	"77268517"	"77268520"	"del"	"0"	"01594"	"ATP7A_000026"	"g.77268517_77268520del"	""	"{PMID:Gu 2001:11241493}"	""	"del2459AGAG (E771frame shift774)"	""	"Germline"	""	""	"0"	""	""	"g.78013020_78013023del"	""	"pathogenic (recessive)"	""
"0000695192"	"0"	"97"	"X"	"77268540"	"77268553"	"del"	"0"	"01594"	"ATP7A_000027"	"g.77268540_77268553del"	""	"{PMID:Tümer 1997:8981948}"	""	"779-784del14bp"	""	"De novo"	""	""	"0"	""	""	"g.78013043_78013056del"	""	"pathogenic (recessive)"	""
"0000695193"	"21"	"97"	"X"	"77271260"	"77271260"	"del"	"0"	"01594"	"ATP7A_000029"	"g.77271260del"	""	"{PMID:Tümer 1996:8528242}"	""	"Del A in codon 836"	"Normal size (frame shift)"	"Germline"	""	""	"0"	""	""	"g.78015763del"	""	"pathogenic (recessive)"	""
"0000695194"	"0"	"97"	"X"	"77276548"	"77276548"	"del"	"0"	"01594"	"ATP7A_000030"	"g.77276548del"	""	"{PMID:Tümer 1997:8981948}"	""	"963delA"	""	"De novo"	""	""	"0"	""	""	"g.78021051del"	""	"pathogenic (recessive)"	""
"0000695195"	"20"	"97"	"X"	"77284768"	"77284768"	"del"	"0"	"01594"	"ATP7A_000031"	"g.77284768del"	""	"{PMID:Tümer 1997:8981948}"	""	"980delC"	""	"Germline"	""	""	"0"	""	""	"g.78029271del"	""	"pathogenic (recessive)"	""
"0000695196"	"0"	"97"	"X"	"77284870"	"77284870"	"dup"	"0"	"01594"	"ATP7A_000032"	"g.77284870dup"	""	"{PMID:Moizard 2010:21208200}"	""	"3040_3041insG"	"r.2917_3111del195 (Ex15 skips, in-frame)"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695197"	"21"	"97"	"X"	"77284875"	"77284875"	"del"	"0"	"01594"	"ATP7A_000033"	"g.77284875del"	""	"{PMID:Zhang 2008:18272047}"	""	"3045delT"	""	"Germline"	""	""	"0"	""	""	"g.78029378del"	""	"pathogenic (recessive)"	""
"0000695198"	"0"	"97"	"X"	"77284901"	"77284902"	"dup"	"0"	"01594"	"ATP7A_000036"	"g.77284901_77284902dup"	""	"{PMID:Gu 2001:11241493}"	""	"ins3219AT (I1024frame shift1026X)"	""	"Germline"	""	""	"0"	""	""	"g.78029404_78029405dup"	""	"pathogenic (recessive)"	""
"0000695199"	"0"	"97"	"X"	"77287030"	"77287030"	"dup"	"0"	"01594"	"ATP7A_000037"	"g.77287030dup"	""	"{PMID:Tümer 1997:8981948}"	""	"1083insA"	""	"Germline"	""	""	"0"	""	""	"g.78031532dup"	""	"pathogenic (recessive)"	""
"0000695200"	"0"	"97"	"X"	"77287079"	"77287080"	"del"	"0"	"01594"	"ATP7A_000038"	"g.77287079_77287080del"	""	"{PMID:Gu 2001:11241493}, {PMID:Skjørringe 2011:21494555}"	""	"DS(AAACAGgtac>AAACgtac)"	"i16-DS mutation: r.3112_3294del183 (Ex16 skips, in-frame)"	"Germline"	""	""	"0"	""	""	"g.78031581_78031582del"	""	"pathogenic (recessive)"	""
"0000695201"	"21"	"97"	"X"	"77289300"	"77289300"	"del"	"0"	"01594"	"ATP7A_000039"	"g.77289300del"	""	"{PMID:Tümer 1997:8981948}"	""	"1164delT"	""	"Germline"	""	""	"0"	""	""	"g.78033802del"	""	"pathogenic (recessive)"	""
"0000695202"	"21"	"97"	"X"	"77296111"	"77296111"	"del"	"0"	"01594"	"ATP7A_000040"	"g.77296111del"	""	"{PMID:Mak 2002:12088078}"	""	"3825delC"	""	"Germline"	""	""	"0"	""	""	"g.78040613del"	""	"pathogenic (recessive)"	""
"0000695203"	"0"	"97"	"X"	"77296123"	"77296124"	"del"	"0"	"01594"	"ATP7A_000041"	"g.77296123_77296124del"	""	"{PMID:Moizard 2010:21208200}"	""	"3693_3694delAG"	"Normal size (frame shift)"	"Germline"	""	""	"0"	""	""	"g.78040625_78040626del"	""	"pathogenic (recessive)"	""
"0000695204"	"0"	"97"	"X"	"77296135"	"77296135"	"del"	"0"	"01594"	"ATP7A_000042"	"g.77296135del"	""	"{PMID:Tümer 1997:8981948}"	""	"1235delA"	""	"De novo"	""	""	"0"	""	""	"g.78040637del"	""	"pathogenic (recessive)"	""
"0000695205"	"21"	"97"	"X"	"77298163"	"77298163"	"del"	"0"	"01594"	"ATP7A_000043"	"g.77298163del"	""	"{PMID:Tümer 1997:8981948}"	""	"1294delA"	""	"Germline"	""	""	"0"	""	""	"g.78042665del"	""	"pathogenic (recessive)"	""
"0000695206"	"0"	"97"	"X"	"77298287"	"77298287"	"del"	"0"	"01594"	"ATP7A_000044"	"g.77298287del"	""	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}, {PMID:Skjørringe 2011:21494555}"	""	"Del4150G (R1335frame shift1341X)"	"IVS20, DS mutation: Ex20 skipping predicted (frame shift)"	"Germline"	""	""	"0"	""	""	"g.78042789del"	""	"pathogenic (recessive)"	""
"0000695207"	"0"	"97"	"X"	"77298823"	"77298825"	"del"	"0"	"01594"	"ATP7A_000045"	"g.77298823_77298825del"	""	"{PMID:Gu 2001:11241493}"	""	"del 4159TCT (del1339L)"	"r.3802_4123del322 (ex20-21 skips, frame shift)"	"Germline"	""	""	"0"	""	""	"g.78043325_78043327del"	""	"pathogenic (recessive)"	""
"0000695208"	"0"	"97"	"X"	"77298839"	"77298840"	"ins"	"0"	"01594"	"ATP7A_000046"	"g.77298839_77298840insTGCCA"	""	"{PMID:Tümer 1997:8981948}"	""	"1344insTGCCA"	""	"De novo"	""	""	"0"	""	""	"g.78043341_78043342insTGCCA"	""	"pathogenic (recessive)"	""
"0000695209"	"21"	"97"	"X"	"77300975"	"77300975"	"dup"	"0"	"01594"	"ATP7A_000048"	"g.77300975dup"	""	"{PMID:Ambrosini 1999:10401004}"	""	"Insertion A at position 4277"	"ATP7A signal at plasma membrane; ATP7A signal still at plasma membrane with Cu;"	"Germline"	""	""	"0"	""	""	"g.78045478dup"	""	"pathogenic (recessive)"	""
"0000695210"	"21"	"97"	"X"	"77300984"	"77300993"	"del"	"0"	"01594"	"ATP7A_000049"	"g.77300984_77300993del"	""	"{PMID:Tümer 1997:8981948}"	""	"1381-1384 delGGTTTGGTTT"	""	"Germline"	""	""	"0"	""	""	"g.78045487_78045496del"	""	"pathogenic (recessive)"	""
"0000695211"	"0"	"97"	"X"	"77301041"	"77301042"	"del"	"0"	"01594"	"ATP7A_000051"	"g.77301041_77301042del"	""	"{PMID:Tümer 1997:8981948}"	""	"1400delGT"	""	"Germline"	""	""	"0"	""	""	"g.78045544_78045545del"	""	"pathogenic (recessive)"	""
"0000695212"	"0"	"97"	"X"	"77301053"	"77301088"	"del"	"0"	"01594"	"ATP7A_000053"	"g.77301053_77301088del"	""	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}"	""	"DS(ACTTTCTTCTCTCTTAAACTgtaagtatgatagcttttgctcac>ACTTTctcac)"	"r.4124_4226del103 (i22-DS mutation, ex22 skips, frame shift)"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695213"	"0"	"97"	"X"	"77301916"	"77301916"	"del"	"0"	"01594"	"ATP7A_000054"	"g.77301916del"	""	"{PMID:Dagenais 2001:11431706}"	""	"4497-4499delG"	"Single transrcipt (frame shift) in abundant levels. Reduced level of truncated protein (100-fold less than normal).; ATP7A  lack of residual perinuclear staining, either mislocalization or low levels below IH limits"	"Germline"	""	""	"0"	""	""	"g.78046419del"	""	"pathogenic (recessive)"	""
"0000695214"	"0"	"97"	"X"	"77244116"	"77244116"	"subst"	"0"	"01594"	"ATP7A_000055"	"g.77244116C>T"	""	"{PMID:Das 1994:7977350} {PMID:Bell 2011:21228398}"	""	"C644>T"	"Decreased level with NB"	"Germline"	""	""	"0"	""	""	"g.77988620C>T"	""	"pathogenic (recessive)"	""
"0000695215"	"0"	"97"	"X"	"77244116"	"77244116"	"subst"	"0"	"01594"	"ATP7A_000055"	"g.77244116C>T"	""	"{PMID:Gu 2001:11241493}"	""	"644C>T (Q167X)"	""	"Germline"	""	""	"0"	""	""	"g.77988620C>T"	""	"pathogenic (recessive)"	""
"0000695216"	"0"	"97"	"X"	"77244206"	"77244206"	"subst"	"0"	"01594"	"ATP7A_000057"	"g.77244206C>T"	""	"{PMID:Kaler 2010:20652413}"	""	"Q197X"	"Mutation not described at sequence level in the manuscript"	"Germline"	""	""	"0"	""	""	"g.77988710C>T"	""	"pathogenic (recessive)"	""
"0000695217"	"0"	"97"	"X"	"77244218"	"77244218"	"subst"	"0"	"01594"	"ATP7A_000058"	"g.77244218C>T"	""	"{PMID:Kaler 2009:19194885}, {PMID:Kaler 2010:20652413}"	""	"nucleotide 746 CGA>UGA"	"read-through translation (nonsense suppression). Small amounts of full-length protein.; ATP7A normal localization in TGN; sufficient complementation resulting in functional copper transport"	"Germline"	""	""	"0"	""	""	"g.77988722C>T"	""	"pathogenic (recessive)"	""
"0000695218"	"0"	"97"	"X"	"77244839"	"77244839"	"subst"	"0"	"01594"	"ATP7A_000059"	"g.77244839C>T"	""	"{PMID:Moizard 2010:21208200}"	""	""	"Skips Ex4 (in-frame)"	"Germline"	""	""	"0"	""	""	"g.77989343C>T"	""	"pathogenic (recessive)"	""
"0000695219"	"0"	"97"	"X"	"77245343"	"77245343"	"subst"	"0"	"01594"	"ATP7A_000060"	"g.77245343C>T"	""	"{PMID:Tümer 1997:8981948}"	""	"Arg409Ter (CGA>TGA)"	""	"De novo"	""	""	"0"	""	""	"g.77989847C>T"	""	"pathogenic (recessive)"	""
"0000695220"	"0"	"97"	"X"	"77254098"	"77254098"	"subst"	"0"	"01594"	"ATP7A_000061"	"g.77254098C>A"	""	"{PMID:Gu 2001:11241493}"	""	"1605C>A (S487X)"	""	"Germline"	""	""	"0"	""	""	"g.77998601C>A"	""	"pathogenic (recessive)"	""
"0000695221"	"0"	"97"	"X"	"77258611"	"77258611"	"subst"	"0"	"01594"	"ATP7A_000062"	"g.77258611G>T"	""	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}, {PMID:Gu2012:22361452}"	""	"1730G>T (E529X)"	""	"Germline"	""	""	"0"	""	""	"g.78003114G>T"	""	"pathogenic (recessive)"	""
"0000695222"	"0"	"97"	"X"	"77264625"	"77264625"	"subst"	"0"	"01594"	"ATP7A_000064"	"g.77264625C>A"	""	"{PMID:Tümer 1997:8981948}"	""	"Cys587Ter (TGC>TGA)"	""	"Germline"	""	""	"0"	""	""	"g.78009128C>A"	""	"pathogenic (recessive)"	""
"0000695223"	"0"	"97"	"X"	"77266677"	"77266677"	"subst"	"0"	"01594"	"ATP7A_000065"	"g.77266677T>R"	""	"{PMID:Kaler 2010:20652413}"	""	"L625X"	"Mutation not described at sequence level in the manuscript"	"Germline"	""	""	"0"	""	""	"g.78011180T>R"	""	"pathogenic (recessive)"	""
"0000695224"	"21"	"97"	"X"	"77266713"	"77266713"	"subst"	"0"	"01594"	"ATP7A_000066"	"g.77266713C>G"	""	"{PMID:Tümer 1997:8981948}"	""	"Ser637Ter (TCA>TGA)"	""	"Germline"	""	""	"0"	""	""	"g.78011216C>G"	""	"pathogenic (recessive)"	""
"0000695225"	"0"	"97"	"X"	"77266736"	"77266736"	"subst"	"0"	"01594"	"ATP7A_000067"	"g.77266736C>T"	""	"{PMID:Das 1994:7977350}"	""	"C2078>T in 77-bp exon"	"r.1933C>T; r.1870_1946del77 (Skips ex8, frame shift). Decreased level with NB"	"Germline"	""	""	"0"	""	""	"g.78011239C>T"	""	"pathogenic (recessive)"	""
"0000695226"	"21"	"97"	"X"	"77266736"	"77266736"	"subst"	"0"	"01594"	"ATP7A_000067"	"g.77266736C>T"	""	"{PMID:Tümer 1997:8981948}"	""	"Arg645Ter (CGA>TGA)"	""	"Germline"	""	""	"0"	""	""	"g.78011239C>T"	""	"pathogenic (recessive)"	""
"0000695227"	"0"	"97"	"X"	"77266736"	"77266736"	"subst"	"0"	"01594"	"ATP7A_000067"	"g.77266736C>T"	""	"{PMID:Watanabe 2005:15693857}"	""	"2708C>T (arg645Ter)"	""	"Germline"	""	""	"0"	""	""	"g.78011239C>T"	""	"pathogenic (recessive)"	""
"0000695228"	"0"	"97"	"X"	"77266736"	"77266736"	"subst"	"0"	"01594"	"ATP7A_000067"	"g.77266736C>T"	""	"{PMID:Gu 2001:11241493}"	""	"2078C>T (R645X)"	""	"Germline"	""	""	"0"	""	""	"g.78011239C>T"	""	"pathogenic (recessive)"	""
"0000695229"	"0"	"97"	"X"	"77266736"	"77266736"	"subst"	"0"	"01594"	"ATP7A_000067"	"g.77266736C>T"	""	"{PMID:Hahn 2001:11350187}"	""	"Arg645Ter"	""	"Germline"	""	""	"0"	""	""	"g.78011239C>T"	""	"pathogenic (recessive)"	""
"0000695230"	"0"	"97"	"X"	"77266739"	"77266739"	"subst"	"0"	"01594"	"ATP7A_000068"	"g.77266739G>T"	""	"{PMID:Hahn 2001:11350187}"	""	"Glu646Ter"	""	"Germline"	""	""	"0"	""	""	"g.78011242G>T"	""	"pathogenic (recessive)"	""
"0000695231"	"0"	"97"	"X"	"77266948"	"77266948"	"subst"	"0"	"01594"	"ATP7A_000069"	"g.77266948G>A"	""	"{PMID:Moizard 2010:21208200}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78011451G>A"	""	"pathogenic (recessive)"	""
"0000695232"	"0"	"97"	"X"	"77267067"	"77267067"	"subst"	"0"	"01594"	"ATP7A_000070"	"g.77267067G>T"	""	"{PMID:Tümer 1997:8981948}"	""	"Glu690Ter (GAA>TGA)"	""	"Germline"	""	""	"0"	""	""	"g.78011570G>T"	""	"pathogenic (recessive)"	""
"0000695233"	"0"	"97"	"X"	"77267152"	"77267152"	"subst"	"0"	"01594"	"ATP7A_000071"	"g.77267152T>A"	""	"{PMID:Ogawa 2000:11043517}"	""	"L718X"	""	"Germline"	""	""	"0"	""	""	"g.78011655T>A"	""	"pathogenic (recessive)"	""
"0000695234"	"21"	"97"	"X"	"77268586"	"77268586"	"subst"	"0"	"01594"	"ATP7A_000074"	"g.77268586C>T"	""	"{PMID:Tümer 1997:8981948}"	""	"Arg795Ter (CGA>TGA)"	""	"Germline"	""	""	"0"	""	""	"g.78013089C>T"	""	"pathogenic (recessive)"	""
"0000695235"	"0"	"97"	"X"	"77270198"	"77270198"	"subst"	"0"	"01594"	"ATP7A_000075"	"g.77270198C>T"	""	"{PMID:Mak 2002:12088078}"	""	"C2519T"	""	"De novo"	""	""	"0"	""	""	"g.78014701C>T"	""	"pathogenic (recessive)"	""
"0000695236"	"0"	"97"	"X"	"77275800"	"77275800"	"subst"	"0"	"01594"	"ATP7A_000077"	"g.77275800C>T"	""	"{PMID:Tümer 1997:8981948}"	""	"Gln896Ter (CAG>TAG)"	""	"De novo"	""	""	"0"	""	""	"g.78020303C>T"	""	"pathogenic (recessive)"	""
"0000695237"	"0"	"97"	"X"	"77275857"	"77275857"	"subst"	"0"	"01594"	"ATP7A_000078"	"g.77275857C>T"	""	"{PMID:Kim 2011:21738351}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78020360C>T"	""	"pathogenic (recessive)"	""
"0000695238"	"0"	"97"	"X"	"77275884"	"77275884"	"subst"	"0"	"01594"	"ATP7A_000079"	"g.77275884C>T"	""	"{PMID:Tümer 1997:8981948}"	""	"Gln924Ter (CAA>TAA)"	""	"De novo"	""	""	"0"	""	""	"g.78020387C>T"	""	"pathogenic (recessive)"	""
"0000695239"	"0"	"97"	"X"	"77276527"	"77276527"	"subst"	"0"	"01594"	"ATP7A_000080"	"g.77276527G>A"	""	"{PMID:Tümer 1997:8981948}"	""	"Trp956Ter (TGG>TAG)"	""	"De novo"	""	""	"0"	""	""	"g.78021030G>A"	""	"pathogenic (recessive)"	""
"0000695240"	"0"	"97"	"X"	"77284768"	"77284768"	"subst"	"0"	"01594"	"ATP7A_000081"	"g.77284768C>T"	""	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}"	""	"3083C>T (R980X)"	""	"Germline"	""	""	"0"	""	""	"g.78029271C>T"	""	"pathogenic (recessive)"	""
"0000695241"	"0"	"97"	"X"	"77284768"	"77284768"	"subst"	"0"	"01594"	"ATP7A_000081"	"g.77284768C>T"	""	"{PMID:Jankov 1998:9894833}"	""	"Arg980Ter"	""	"De novo"	""	""	"0"	""	""	"g.78029271C>T"	""	"pathogenic (recessive)"	""
"0000695242"	"0"	"97"	"X"	"77284774"	"77284774"	"subst"	"0"	"01594"	"ATP7A_000082"	"g.77284774G>T"	""	"{PMID:Moizard 2010:21208200}"	""	"Glu982Ter"	"r.2917_3111del195 (Skips Ex15, in-frame)"	"Germline"	""	""	"0"	""	""	"g.78029277G>T"	""	"pathogenic (recessive)"	""
"0000695243"	"0"	"97"	"X"	"77284786"	"77284786"	"subst"	"0"	"01594"	"ATP7A_000083"	"g.77284786C>T"	""	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}, {PMID:Gu2012:22361452}"	""	"3101C>T (R986X)"	""	"Germline"	""	""	"0"	""	""	"g.78029289C>T"	""	"pathogenic (recessive)"	""
"0000695244"	"0"	"97"	"X"	"77284786"	"77284786"	"subst"	"0"	"01594"	"ATP7A_000083"	"g.77284786C>T"	""	"{PMID:Ozawa 2001:11472597}"	""	"3101C>T (R986X)"	""	"Germline"	""	""	"0"	""	""	"g.78029289C>T"	""	"pathogenic (recessive)"	""
"0000695245"	"0"	"97"	"X"	"77284786"	"77284786"	"subst"	"0"	"01594"	"ATP7A_000083"	"g.77284786C>T"	""	"{PMID:Gu 2002:12427520}"	""	"R986X"	""	"Germline"	""	""	"0"	""	""	"g.78029289C>T"	""	"pathogenic (recessive)"	""
"0000695246"	"0"	"97"	"X"	"77284786"	"77284786"	"subst"	"0"	"01594"	"ATP7A_000083"	"g.77284786C>T"	""	"{PMID:Watanabe 2005:15693857}"	""	"3101C>T (Arg986Ter)"	""	"Germline"	""	""	"0"	""	""	"g.78029289C>T"	""	"pathogenic (recessive)"	""
"0000695247"	"21"	"97"	"X"	"77287027"	"77287027"	"subst"	"0"	"01594"	"ATP7A_000084"	"g.77287027G>T"	""	"{PMID:Tümer 1997:8981948}"	""	"Glu1081Ter (GAA>TAA)"	""	"Germline"	""	""	"0"	""	""	"g.78031529G>T"	""	"pathogenic (recessive)"	""
"0000695248"	"0"	"97"	"X"	"77294382"	"77294382"	""	"0"	"01594"	"ATP7A_000085"	"g.77294382^77294383G>A"	""	"{PMID:Kaler 2010:20652413}"	""	"W1187X"	"Mutation not described at sequence level in the manuscript. Should either be c.3560G>A or c.2361G>A"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695249"	"0"	"97"	"X"	"77296205"	"77296205"	"subst"	"0"	"01594"	"ATP7A_000086"	"g.77296205A>T"	""	"{PMID:Moizard 2010:21208200}"	""	""	"Normal size"	"Germline"	""	""	"0"	""	""	"g.78040707A>T"	""	"pathogenic (recessive)"	""
"0000695250"	"0"	"97"	"X"	"77298143"	"77298143"	"subst"	"0"	"01594"	"ATP7A_000087"	"g.77298143C>T"	""	"{PMID:Seidel 2001:11936861}"	""	"Gln1288Ter"	""	"Germline"	""	""	"0"	""	""	"g.78042645C>T"	""	"pathogenic (recessive)"	""
"0000695251"	"0"	"97"	"X"	"77300995"	"77300995"	"subst"	"0"	"01594"	"ATP7A_000088"	"g.77300995G>T"	""	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	""	"Q1385X"	"Mutation not described at sequence level in the manuscript"	"Germline"	""	""	"0"	""	""	"g.78045498G>T"	""	"pathogenic (recessive)"	""
"0000695252"	"21"	"97"	"X"	"77266688"	"77266688"	"subst"	"0"	"01594"	"ATP7A_000089"	"g.77266688G>C"	""	"{PMID:Tümer 1997:8981948}, {PMID:de Bie 2007:17717039}, {PMID:Banci 2005:16083905}, {PMID:Payne 1998:9452509}, {PMID:Kouza 2010:20714486}"	""	"Ala629Pro (GCT>CCT)"	"reduced rescue in yeast"	"Germline"	""	""	"0"	""	""	"g.78011191G>C"	""	"pathogenic (recessive)"	""
"0000695253"	"0"	"97"	"X"	"77266688"	"77266688"	"subst"	"0"	"01594"	"ATP7A_000089"	"g.77266688G>C"	""	"{PMID:Olivares 2006:16630173}"	""	"A629P"	""	"Germline"	""	""	"0"	""	""	"g.78011191G>C"	""	"pathogenic (recessive)"	""
"0000695254"	"0"	"97"	"X"	"77266688"	"77266688"	"subst"	"0"	"01594"	"ATP7A_000089"	"g.77266688G>C"	""	"{PMID:Moizard 2010:21208200}"	""	""	"r.1885G>C; r.1870_1946del77 (Ex8 skips, frame shift)"	"Germline"	""	""	"0"	""	""	"g.78011191G>C"	""	"pathogenic (recessive)"	""
"0000695255"	"0"	"97"	"X"	"77266713"	"77266713"	"subst"	"0"	"01594"	"ATP7A_000091"	"g.77266713C>T"	""	"{PMID:Ronce 1997:9246006}"	""	"C2055T"	"r.1910C>T, reduced levels; r.1870_1946del77 (ex8 skips, frame shift); r.2173_2406del234 (ex10 skips, in-frame); r.1870_2406del537 (ex8-10 skips, in-frame)"	"Germline"	""	""	"0"	""	""	"g.78011216C>T"	""	"pathogenic (recessive)"	""
"0000695256"	"0"	"97"	"X"	"77266713"	"77266713"	"subst"	"0"	"01594"	"ATP7A_000091"	"g.77266713C>T"	""	"{PMID: Donsante 2007:17496194}, {PMID:de Bie 2007:17717039}"	""	"S637L (C to T transition at 2055)"	"reduced quantity of ATP7A (10%); reduced rescue in yeast (73%)"	"Germline"	""	""	"0"	""	""	"g.78011216C>T"	""	"pathogenic (recessive)"	""
"0000695257"	"0"	"97"	"X"	"77266995"	"77266995"	"subst"	"0"	"01594"	"ATP7A_000094"	"g.77266995G>M"	""	"{PMID:Kroepfl 2006:16786254}"	""	"Gly666Arg"	"Not describet at DNA level in the manuscript. Should be either c.1996G>A or c.1996G>C"	"Germline"	""	""	"0"	""	""	"g.78011498G>M"	""	"pathogenic (recessive)"	""
"0000695258"	"0"	"97"	"X"	"77266995"	"77266995"	"subst"	"0"	"01594"	"ATP7A_000094"	"g.77266995G>M"	""	"{PMID:Kaler 2008:18256395}"	""	"Gly666Arg"	"Not describet at DNA level in the manuscript. Should be either c.1996G>A or c.1996G>C; partial complementation deletion, indicating some residual functional copper-transport"	"Germline"	""	""	"0"	""	""	"g.78011498G>M"	""	"pathogenic (recessive)"	""
"0000695259"	"0"	"97"	"X"	"77266995"	"77266995"	"subst"	"0"	"01594"	"ATP7A_000094"	"g.77266995G>M"	""	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	""	"Gly666Arg"	"Not describet at DNA level in the manuscript. Should be either c.1996G>A or c.1996G>C"	"Germline"	""	""	"0"	""	""	"g.78011498G>M"	""	"pathogenic (recessive)"	""
"0000695260"	"0"	"97"	"X"	"77267058"	"77267058"	"subst"	"0"	"01594"	"ATP7A_000095"	"g.77267058A>G"	""	"{PMID:Moizard 2010:21208200}"	""	""	"New 5_ss usage: r.2059_2172del114 (last 114 bp in ex9, in-frame)(p.(Met687_Gln724del)"	"Germline"	""	""	"0"	""	""	"g.78011561A>G"	""	"pathogenic (recessive)"	""
"0000695261"	"0"	"97"	"X"	"77267116"	"77267116"	"subst"	"0"	"01594"	"ATP7A_000096"	"g.77267116T>G"	""	"{PMID:Hahn 2001:11350187}"	""	"Leu706Arg"	""	"Germline"	""	""	"0"	""	""	"g.78011619T>G"	""	"pathogenic (recessive)"	""
"0000695262"	"0"	"97"	"X"	"77267157"	"77267157"	"subst"	"0"	"01594"	"ATP7A_000097"	"g.77267157T>C"	""	"{PMID:Gu 2002:12427520}"	""	"C720R"	""	"De novo"	""	""	"0"	""	""	"g.78011660T>C"	""	"pathogenic (recessive)"	""
"0000695263"	"0"	"97"	"X"	"77267170"	"77267170"	"subst"	"0"	"01594"	"ATP7A_000098"	"g.77267170A>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	"2171A>C (E9, DS)"	"Ex9-IVS9, DS mutation"	"Germline"	""	""	"0"	""	""	"g.78011673A>C"	""	"pathogenic (recessive)"	""
"0000695264"	"0"	"97"	"X"	"77267171"	"77267171"	"subst"	"0"	"01594"	"ATP7A_000099"	"g.77267171G>T"	""	"{PMID:Kaler 1995:8526465}, {PMID:Kaler 2010:20652413}, {PMID:Skjørringe 2011:21494555}"	""	"Q724H"	"Ex9-IVS9, DS mutation"	"Germline"	""	""	"0"	""	""	"g.78011674G>T"	""	"pathogenic (recessive)"	""
"0000695265"	"0"	"97"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Das 1994:7977350}"	""	"G2324>A"	"normal levels with NB"	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"pathogenic (recessive)"	""
"0000695266"	"21"	"97"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Tümer 1997:8981948}"	""	"Gly727Arg (GGA>AGA)"	""	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"pathogenic (recessive)"	""
"0000695267"	"0"	"97"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Gu 2001:11241493}"	""	"2324G>A (G727R)"	""	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"pathogenic (recessive)"	""
"0000695268"	"0"	"97"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Tang 2008:18752978}"	""	"G727R"	"normal mRNA levels;  Protein levels markedly reduced suggesting post-translational degradation; partial complementation, partial copper transport activity"	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"pathogenic (recessive)"	""
"0000695269"	"0"	"97"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Tang 2008:18752978}, {PMID:Kaler 2010:20652413}"	""	"G727R"	""	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"pathogenic (recessive)"	""
"0000695270"	"0"	"97"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Tang 2008:18752978}"	""	"G727R"	""	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"pathogenic (recessive)"	""
"0000695271"	"0"	"97"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Moizard 2010:21208200}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"pathogenic (recessive)"	""
"0000695272"	"0"	"97"	"X"	"77268609"	"77268609"	"subst"	"0"	"01594"	"ATP7A_000101"	"g.77268609G>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	"Ex10-IVS10, DS mutation"	"Germline"	""	""	"0"	""	""	"g.78013112G>C"	""	"pathogenic (recessive)"	""
"0000695273"	"0"	"97"	"X"	"77270249"	"77270249"	"subst"	"0"	"01594"	"ATP7A_000102"	"g.77270249A>G"	""	"{PMID:Kaler 1994:7842019}, {PMID:Skjørringe 2011:21494555}"	""	"Ser833Gly (A to G transition at position -2 of the 92bp exon)"	"i11-DS mutation: r.2497A>G, reduced levels; r. 2407_2498del92 (ex11 skips, frame shift); r.2407_2626del240 (ex11-12 skip, frame shift)"	"De novo"	""	""	"0"	""	""	"g.78014752A>G"	""	"pathogenic (recessive)"	""
"0000695274"	"21"	"97"	"X"	"77271283"	"77271283"	"subst"	"0.000218339"	"01594"	"ATP7A_000103"	"g.77271283G>A"	""	"{PMID:Møller 2005:15981243}, {PMID:Sztriha 1994:7943608}, {PMID:Gerdes 1988:3234433}"	""	""	"No ATP7A signal in patient fibroblasts"	"Germline"	""	""	"0"	""	""	"g.78015786G>A"	""	"pathogenic (recessive)"	""
"0000695275"	"21"	"97"	"X"	"77271283"	"77271283"	"subst"	"0.000218339"	"01594"	"ATP7A_000103"	"g.77271283G>A"	""	"{PMID:László 2010:20420124}, {PMID:de Bie 2007:17717039}"	""	"Arg844His"	""	"Germline"	""	""	"0"	""	""	"g.78015786G>A"	""	"pathogenic (recessive)"	""
"0000695276"	"21"	"97"	"X"	"77271309"	"77271309"	"subst"	"0"	"01594"	"ATP7A_000104"	"g.77271309G>A"	""	"{PMID:Møller 2005:15981243}"	""	""	"functional analysis not possible"	"Germline"	""	""	"0"	""	""	"g.78015812G>A"	""	"pathogenic (recessive)"	""
"0000695277"	"21"	"97"	"X"	"77271309"	"77271309"	"subst"	"0"	"01594"	"ATP7A_000105"	"g.77271309G>C"	""	"{PMID:Møller 2005:15981243}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78015812G>C"	""	"pathogenic (recessive)"	""
"0000695278"	"0"	"97"	"X"	"77271331"	"77271331"	"subst"	"0"	"01594"	"ATP7A_000106"	"g.77271331G>T"	""	"{PMID:Møller 2005:15981243}; {PMID:Dabadie 1984:6739227}; {PMID:de Bie 2007:17717039}"	""	""	"No ATP7A signal in patient fibroblasts"	"Germline"	""	""	"0"	""	""	"g.78015834G>T"	""	"pathogenic (recessive)"	""
"0000695279"	"0"	"97"	"X"	"77271361"	"77271361"	"subst"	"0"	"01594"	"ATP7A_000107"	"g.77271361A>G"	""	"{PMID:Moizard 2010:21208200}"	""	""	"New 5_ss usage: r.2608_2626del18 (last 18 bp in ex12, in-frame)(p.Asp870_Thr875del)"	"De novo"	""	""	"0"	""	""	"g.78015864A>G"	""	"pathogenic (recessive)"	""
"0000695280"	"0"	"97"	"X"	"77271370"	"77271370"	"subst"	"0"	"01594"	"ATP7A_000108"	"g.77271370T>G"	""	"{PMID:Ogawa 1999:10319589}, {PMID:Petris 2002:12228238}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}, {PMID:Vonk 2011:21667063}"	""	"T2763G"	"Increased ATP7A expression. Can interact with ATOX1.; ATP7A  constitutively present at plasma membrane; no response to Cu, remains at plasma membrane; can not rescue in yeast, increased formation of acylphosphate intermediate"	"Germline"	""	""	"0"	""	""	"g.78015873T>G"	""	"pathogenic (recessive)"	""
"0000695281"	"21"	"97"	"X"	"77271378"	"77271378"	"subst"	"0"	"01594"	"ATP7A_000109"	"g.77271378G>C"	""	"{PMID:Møller 2005:15981243}, {PMID:Skjørringe 2011:21494555}, {PMID:de Bie 2007:17717039}"	""	""	"No ATP7A signal in patient fibroblasts"	"Germline"	""	""	"0"	""	""	"g.78015881G>C"	""	"pathogenic (recessive)"	""
"0000695282"	"0"	"97"	"X"	"77275741"	"77275741"	"subst"	"0"	"01594"	"ATP7A_000110"	"g.77275741G>A"	""	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:Skjørringe 2011:21494555}"	""	"Gly876Glu"	"functional analysis not possible"	"De novo"	""	""	"0"	""	""	"g.78020244G>A"	""	"pathogenic (recessive)"	""
"0000695283"	"0"	"97"	"X"	"77275885"	"77275885"	"subst"	"0"	"01594"	"ATP7A_000111"	"g.77275885A>G"	""	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	"only a fraction of the variant ATP7A is correctly localized in the TGN"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695284"	"0"	"97"	"X"	"77284811"	"77284811"	"subst"	"0"	"01594"	"ATP7A_000112"	"g.77284811C>T"	""	"{PMID:Kennerson 2010:20170900}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78029314C>T"	""	"pathogenic (recessive)"	""
"0000695285"	"21"	"97"	"X"	"77284828"	"77284828"	"subst"	"0"	"01594"	"ATP7A_000113"	"g.77284828T>C"	""	"{PMID:Yoshimizu 1998:9692213}, {PMID:Tümer 1999:10079817}, {PMID:Bissig 2001:11415452}, {PMID:Petris 2002:12228238}, {PMID:Kim 2003:12676902},  {PMID:Lowe 2004:15078884}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039},  {PMID:Vonk 2011:21667063}"	""	"Cys1000Arg"	"Decreased ATP7A expression. Can interact with ATOX1.; ATP7A normal localization in TGN; in high Cu can not translocate to plasma membrane; no tyrosinase activity, suggesting defective Cu transport, cannot rescue in yeast but phosphorylation still possible, cannot rescu in C. elegans, complete impairment of copper-transport activity"	"Germline"	""	""	"0"	""	""	"g.78029331T>C"	""	"pathogenic (recessive)"	""
"0000695286"	"0"	"97"	"X"	"77284832"	"77284832"	"subst"	"0"	"01594"	"ATP7A_000114"	"g.77284832C>T"	""	"{PMID:Donsante 2010:20799318}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78029335C>T"	""	"pathogenic (recessive)"	""
"0000695287"	"0"	"97"	"X"	"77284843"	"77284843"	"subst"	"0"	"01594"	"ATP7A_000115"	"g.77284843G>A"	""	"{PMID:Moizard 2010:21208200}"	""	""	"Normal size mRNA"	"De novo"	""	""	"0"	""	""	"g.78029346G>A"	""	"pathogenic (recessive)"	""
"0000695288"	"0"	"97"	"X"	"77284837"	"77284837"	"subst"	"0"	"01594"	"ATP7A_000116"	"g.77284837T>C"	""	"{PMID:Tümer 1997:8981948}, {PMID:Møller 2005:15981243}"	""	"Leu1006Pro"	""	"De novo"	""	""	"0"	""	""	"g.78029340T>C"	""	"pathogenic (recessive)"	""
"0000695289"	"0"	"97"	"X"	"77284850"	"77284850"	"subst"	"0"	"01594"	"ATP7A_000117"	"g.77284850C>T"	""	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	"ATP7A normal localization in TGN"	"Germline"	""	""	"0"	""	""	"g.78029353C>T"	""	"pathogenic (recessive)"	""
"0000695290"	"0"	"97"	"X"	"77284873"	"77284873"	"subst"	"0"	"01594"	"ATP7A_000118"	"g.77284873G>A"	""	"{PMID:Moizard 2010:21208200}"	""	""	"New 5_ss usage: r.3040_3111del72 (last 72 bp in ex15, in-frame) (p.Val1014_Lys1037del)"	"Germline"	""	""	"0"	""	""	"g.78029376G>A"	""	"pathogenic (recessive)"	""
"0000695291"	"21"	"97"	"X"	"77284874"	"77284874"	"subst"	"0"	"01594"	"ATP7A_000119"	"g.77284874G>A"	""	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	"ATP7A normal localization in TGN"	"Germline"	""	""	"0"	""	""	"g.78029377G>A"	""	"pathogenic (recessive)"	""
"0000695292"	"0"	"97"	"X"	"77284886"	"77284886"	"subst"	"0"	"01594"	"ATP7A_000120"	"g.77284886G>A"	""	"{PMID:Tümer 1997:8981948},  {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039},  {PMID:Payne 1998:9452509}"	""	"Gly1019Asp"	"ATP7A partial ER mislocalization; Cu response present; reduced rescue in yeast, impaired glycosylation"	"Germline"	""	""	"0"	""	""	"g.78029389G>A"	""	"pathogenic (recessive)"	""
"0000695293"	"0"	"97"	"X"	"77284941"	"77284941"	"subst"	"0"	"01594"	"ATP7A_000121"	"g.77284941G>A"	""	"{PMID:Grange 2005:16278898}, {PMID:Kaler 2010:20652413}, {PMID:Skjørringe 2011:21494555}"	""	"K1037N"	"Ex15-IVS15, DS mutation"	"De novo"	""	""	"0"	""	""	"g.78029444G>A"	""	"pathogenic (recessive)"	""
"0000695294"	"21"	"97"	"X"	"77286917"	"77286917"	"subst"	"0"	"01594"	"ATP7A_000122"	"g.77286917A>G"	""	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	"ATP7A normal localization in TGN"	"Germline"	""	""	"0"	""	""	"g.78031419A>G"	""	"pathogenic (recessive)"	""
"0000695295"	"0"	"97"	"X"	"77286917"	"77286917"	"subst"	"0"	"01594"	"ATP7A_000122"	"g.77286917A>G"	""	"{PMID:Watanabe 2005:15693857}"	""	"3276A>G (Asp1044Gly)"	""	"Germline"	""	""	"0"	""	""	"g.78031419A>G"	""	"pathogenic (recessive)"	""
"0000695296"	"0"	"97"	"X"	"77286929"	"77286929"	"subst"	"0"	"01594"	"ATP7A_000123"	"g.77286929C>T"	""	"{PMID:Moizard 2010:21208200}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78031431C>T"	""	"pathogenic (recessive)"	""
"0000695297"	"0"	"97"	"X"	"77287079"	"77287079"	"subst"	"0"	"01594"	"ATP7A_000124"	"g.77287079A>C"	""	"{PMID:Moizard 2010:21208200}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78031581A>C"	""	"pathogenic (recessive)"	""
"0000695298"	"21"	"97"	"X"	"77289107"	"77289107"	"subst"	"0"	"01594"	"ATP7A_000125"	"g.77289107T>C"	""	"{PMID:Møller 2005:15981243}"	""	""	"functional analysis not possible"	"Germline"	""	""	"0"	""	""	"g.78033609T>C"	""	"pathogenic (recessive)"	""
"0000695299"	"0"	"97"	"X"	"77289161"	"77289161"	"subst"	"0"	"01594"	"ATP7A_000126"	"g.77289161G>A"	""	"{PMID:Hahn 2001:11350187}, {PMID:Møller 2005:15981243}"	""	"Gly1118Asp"	""	"Germline"	""	""	"0"	""	""	"g.78033663G>A"	""	"pathogenic (recessive)"	""
"0000695300"	"0"	"97"	"X"	"77296193"	"77296193"	"subst"	"0"	"01594"	"ATP7A_000127"	"g.77296193G>A"	""	"{PMID:Hahn 2001:11350187}, {PMID:Møller 2005:15981243}"	""	"Gly1255Arg"	""	"Germline"	""	""	"0"	""	""	"g.78040695G>A"	""	"pathogenic (recessive)"	""
"0000695301"	"0"	"97"	"X"	"77298117"	"77298117"	"subst"	"0"	"01594"	"ATP7A_000128"	"g.77298117C>T"	""	"{PMID:Watanabe 2005:15693857}"	""	"3981C>T (Pro279Leu)"	""	"Germline"	""	""	"0"	""	""	"g.78042619C>T"	""	"pathogenic (recessive)"	""
"0000695302"	"0"	"97"	"X"	"77298125"	"77298125"	"subst"	"0"	"01594"	"ATP7A_000129"	"g.77298125A>G"	""	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	"ATP7A normal localization in TGN"	"Germline"	""	""	"0"	""	""	"g.78042627A>G"	""	"pathogenic (recessive)"	""
"0000695303"	"0"	"97"	"X"	"77298180"	"77298180"	"subst"	"0"	"01594"	"ATP7A_000130"	"g.77298180G>A"	""	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	"Gly1300Glu"	"ATP7A normal localization in TGN"	"De novo"	""	""	"0"	""	""	"g.78042682G>A"	""	"pathogenic (recessive)"	""
"0000695304"	"0"	"97"	"X"	"77298185"	"77298185"	"subst"	"0"	"01594"	"ATP7A_000131"	"g.77298185G>A"	""	"{PMID:Das 1994:7977350}"	""	"G4049>A in 204 bp exon"	"normal level with northern blot"	"Germline"	""	""	"0"	""	""	"g.78042687G>A"	""	"pathogenic (recessive)"	""
"0000695305"	"0"	"97"	"X"	"77298185"	"77298185"	"subst"	"0"	"01594"	"ATP7A_000131"	"g.77298185G>A"	""	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}"	""	"Gly1302Arg"	"ATP7A partially in cell periphery"	"Germline"	""	""	"0"	""	""	"g.78042687G>A"	""	"pathogenic (recessive)"	""
"0000695306"	"21"	"97"	"X"	"77298186"	"77298186"	"subst"	"0"	"01594"	"ATP7A_000132"	"g.77298186G>T"	""	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	"Gly1302Val"	"only a fraction of the variant ATP7A is correctly localized in the TGN"	"Germline"	""	""	"0"	""	""	"g.78042688G>T"	""	"pathogenic (recessive)"	""
"0000695307"	"0"	"97"	"X"	"77298192"	"77298192"	"subst"	"0"	"01594"	"ATP7A_000133"	"g.77298192A>G"	""	"{PMID:Tang 2006:17108763}, {PMID:de Bie 2007:17717039}, {PMID:Vonk 2011:21667063}"	""	"N1304S (A to G transition at nucleotide 4056)"	"Increased ATP7A expression. Can interact with ATOX1.; ATP7A  localized to cell periphery and plasma membrane; in high Cu still localized to cell periphery and plasma membrane; reduced rescue in yeast (33%)"	"Germline"	""	""	"0"	""	""	"g.78042694A>G"	""	"pathogenic (recessive)"	""
"0000695308"	"0"	"97"	"X"	"77298193"	"77298193"	"subst"	"0"	"01594"	"ATP7A_000134"	"g.77298193T>A"	""	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	"Asn1304Lys"	"ATP7A normal localization in TGN"	"Germline"	""	""	"0"	""	""	"g.78042695T>A"	""	"pathogenic (recessive)"	""
"0000695309"	"0"	"97"	"X"	"77298195"	"77298195"	"subst"	"0"	"01594"	"ATP7A_000135"	"g.77298195A>C"	""	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	"Asp1305Ala"	"ATP7A normal localization in TGN"	"De novo"	""	""	"0"	""	""	"g.78042697A>C"	""	"pathogenic (recessive)"	""
"0000695310"	"21"	"97"	"X"	"77298224"	"77298224"	"subst"	"0"	"01594"	"ATP7A_000136"	"g.77298224G>A"	""	"{PMID:Tümer 1999:10079817}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	"Gly1315Arg"	"ATP7A normal localization in TGN"	"Germline"	""	""	"0"	""	""	"g.78042726G>A"	""	"pathogenic (recessive)"	""
"0000695311"	"21"	"97"	"X"	"77298224"	"77298224"	"subst"	"0"	"01594"	"ATP7A_000136"	"g.77298224G>A"	""	"{PMID:Park 2009:19429807}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78042726G>A"	""	"pathogenic (recessive)"	""
"0000695312"	"21"	"97"	"X"	"77298255"	"77298255"	"subst"	"0"	"01594"	"ATP7A_000137"	"g.77298255C>T"	""	"{PMID:Borm 2004:15238919}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	"No ATP7A signal in patient fibroblasts"	"Germline"	""	""	"0"	""	""	"g.78042757C>T"	""	"pathogenic (recessive)"	""
"0000695313"	"0"	"97"	"X"	"77298841"	"77298842"	"delins"	"0"	"01594"	"ATP7A_000138"	"g.77298841_77298842delinsAT"	""	"{PMID:Gu 2001:11241493}, {PMID:Gu 2002:12427520}, {PMID:Møller 2005:15981243}, {PMID:Gu2012:22361452}"	""	"4177TA>AT (S1344R,I1345F)"	""	"Germline"	""	""	"0"	""	""	"g.78043434="	""	"pathogenic (recessive)"	""
"0000695314"	"0"	"97"	"X"	"77298894"	"77298894"	"subst"	"0"	"01594"	"ATP7A_000139"	"g.77298894C>A"	""	"Kirshman 1997, {PMID: Donsante 2007:17496194}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}, {PMID:Vonk 2011:21667063}"	""	"A1362D (C to A transversion at base 4230)"	"mRNA Normal level. Decreased ATP7A expression. Can interact with ATOX1.; ATP7A normal localization in TGN; in high Cu can not translocate to plasma membrane; reduced rescue  (17% compared to wt), complete impairment of copper-transport activity"	"Germline"	""	""	"0"	""	""	"g.78043396C>A"	""	"pathogenic (recessive)"	""
"0000695315"	"0"	"97"	"X"	"77298894"	"77298894"	"subst"	"0"	"01594"	"ATP7A_000140"	"g.77298894C>T"	""	"{PMID:Ambrosini 1999:10401004}, {PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	"C>T at position 4230 (Ala1362Val)"	"ATP7A normal localization in TGN; no response to Cu, indicating defective trafficking;"	"Germline"	""	""	"0"	""	""	"g.78043396C>T"	""	"pathogenic (recessive)"	""
"0000695316"	"0"	"97"	"X"	"77298914"	"77298914"	"subst"	"0"	"01594"	"ATP7A_000141"	"g.77298914G>A"	""	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	"No ATP7A signal in patient fibroblasts"	"De novo"	""	""	"0"	""	""	"g.78043416G>A"	""	"pathogenic (recessive)"	""
"0000695317"	"0"	"97"	"X"	"77300999"	"77300999"	"subst"	"0"	"01594"	"ATP7A_000142"	"g.77300999C>T"	""	"{PMID:Kennerson 2010:20170900}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78045502C>T"	""	"pathogenic (recessive)"	""
"0000695318"	"0"	"97"	"X"	"77301020"	"77301020"	"subst"	"0"	"01594"	"ATP7A_000143"	"g.77301020A>G"	""	"{PMID:Moizard 2010:21208200}"	""	""	"Normal size mRNA"	"De novo"	""	""	"0"	""	""	"g.78045523A>G"	""	"pathogenic (recessive)"	""
"0000695319"	"0"	"97"	"X"	"77301021"	"77301021"	"subst"	"0"	"01594"	"ATP7A_000144"	"g.77301021T>C"	""	"{PMID:Sheela 2005:16098018}"	""	"T4323C (M1393T)"	""	"Germline"	""	""	"0"	""	""	"g.78045524T>C"	""	"pathogenic (recessive)"	""
"0000695320"	"21"	"97"	"X"	"77301033"	"77301033"	"subst"	"0"	"01594"	"ATP7A_000145"	"g.77301033C>T"	""	"{PMID:Møller 2005:15981243}, {PMID:de Bie 2007:17717039}"	""	""	"ATP7A normal localization in TGN"	"Germline"	""	""	"0"	""	""	"g.78045536C>T"	""	"pathogenic (recessive)"	""
"0000695321"	"21"	"97"	"X"	"77258734"	"77258734"	"subst"	"0"	"01594"	"ATP7A_000146"	"g.77258734G>A"	""	"{PMID:Møller 2000:10739752}, {PMID:Skjørringe 2011:21494555}"	""	"GTTgtaagtaagatrGTTataagtaagat"	""	"Germline"	""	""	"0"	""	""	"g.78003237G>A"	""	"pathogenic (recessive)"	""
"0000695322"	"0"	"97"	"X"	"77258737"	"77258737"	"subst"	"0"	"01594"	"ATP7A_000147"	"g.77258737A>G"	""	"{PMID:Moizard 2010:21208200}"	""	""	"r.1707insGTAA (CSS usage: insertion of the first 4 nt of intron 6, frame shift)"	"Germline"	""	""	"0"	""	""	"g.78003240A>G"	""	"pathogenic (recessive)"	""
"0000695323"	"0"	"97"	"X"	"77258738"	"77258738"	"subst"	"0"	"01594"	"ATP7A_000148"	"g.77258738G>A"	""	"{PMID:Møller 2000:10739752}, {PMID:Skjørringe 2011:21494555}"	""	"GTTgtaagtaagatrGTTgtaaataagat"	""	"Germline"	""	""	"0"	""	""	"g.78003241G>A"	""	"pathogenic (recessive)"	""
"0000695324"	"0"	"97"	"X"	"77258739"	"77258742"	"del"	"0"	"01594"	"ATP7A_000149"	"g.77258739_77258742del"	""	"{PMID:Gu 2001:11241493}"	""	"DS(GTTgtaagtaagattt>GTTgtaagattt)"	"Wild type, reduced levels (19%); r.1544_1707del164 (ex6 skips, frame shift)"	"Germline"	""	""	"0"	""	""	"g.78003242_78003245del"	""	"pathogenic (recessive)"	""
"0000695325"	"21"	"97"	"X"	"77258739"	"77258742"	"del"	"0"	"01594"	"ATP7A_000149"	"g.77258739_77258742del"	""	"{PMID:Møller 2000:10739752}, {PMID:Skjørringe 2011:21494555})"	""	"GTTgtaagtaagatrGTTgtaaataagat"	"Wild type, reduced levels (2-5%);  r.1544_1707del164 (ex6 skips, frame shift)"	"Germline"	""	""	"0"	""	""	"g.78003242_78003245del"	""	"pathogenic (recessive)"	""
"0000695326"	"0"	"97"	"X"	"77264598"	"77264598"	"subst"	"0"	"01594"	"ATP7A_000150"	"g.77264598G>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009101G>C"	""	"pathogenic (recessive)"	""
"0000695327"	"21"	"97"	"X"	"77266672"	"77266672"	"subst"	"0"	"01594"	"ATP7A_000151"	"g.77266672G>C"	""	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	""	"AS(agAGC>acAGC)"	"r.1870_1871delAG (CSS usage, 2 bp deletion in ex 8, frame shift)"	"Germline"	""	""	"0"	""	""	"g.78011175G>C"	""	"pathogenic (recessive)"	""
"0000695328"	"0"	"97"	"X"	"77266672"	"77266672"	"subst"	"0"	"01594"	"ATP7A_000151"	"g.77266672G>C"	""	"{PMID:Kaler 2010:20652413}"	""	"IVS7 AS -1, g>c"	""	"Germline"	""	""	"0"	""	""	"g.78011175G>C"	""	"pathogenic (recessive)"	""
"0000695329"	"0"	"97"	"X"	"77266672"	"77266672"	"subst"	"0"	"01594"	"ATP7A_000151"	"g.77266672G>C"	""	"{PMID:Kaler 2010:20652413}"	""	"IVS7 AS -1, g>c"	""	"Germline"	""	""	"0"	""	""	"g.78011175G>C"	""	"pathogenic (recessive)"	""
"0000695330"	"0"	"97"	"X"	"77266671"	"77266671"	"subst"	"0"	"01594"	"ATP7A_000152"	"g.77266671A>T"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	"Two transcripts: 1. CSS leading to a 7 bp deletion of ex 8 (frame shift); 2. CSS leading to a 2 bp deletion of exon 8 (frame shift)"	"Germline"	""	""	"0"	""	""	"g.78011174A>T"	""	"pathogenic (recessive)"	""
"0000695331"	"0"	"97"	"X"	"77266750"	"77266750"	"subst"	"0"	"01594"	"ATP7A_000153"	"g.77266750G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78011253G>A"	""	"pathogenic (recessive)"	""
"0000695332"	"21"	"97"	"X"	"77266750"	"77266750"	"subst"	"0"	"01594"	"ATP7A_000154"	"g.77266750G>C"	""	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	""	"DS (ACAgta>ACActa)"	"r.1870_1946del77 (Ex8 skips, frame shift)"	"Germline"	""	""	"0"	""	""	"g.78011253G>C"	""	"pathogenic (recessive)"	""
"0000695333"	"0"	"97"	"X"	"77266750"	"77266750"	"subst"	"0"	"01594"	"ATP7A_000155"	"g.77266750G>T"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	"Ex 8 skips (frame shift)"	"Germline"	""	""	"0"	""	""	"g.78011253G>T"	""	"pathogenic (recessive)"	""
"0000695334"	"0"	"97"	"X"	"77266751"	"77266751"	"subst"	"0"	"01594"	"ATP7A_000156"	"g.77266751T>C"	""	"{PMID:Das 1994:7977350}, {PMID:Skjørringe 2011:21494555}, {PMID:Bell 2011:21228398}"	""	"Cagt>CAgc junction 2091/2092"	"r.1947-3_1948dupAAGAT (frame shift); r.1870_1946del77ins5 (ex8 skips, 5 bp inserted, in-frame); decreased mRNA level with NB"	"De novo"	""	""	"0"	""	""	"g.78011254T>C"	""	"pathogenic (recessive)"	""
"0000695335"	"21"	"97"	"X"	"77266751"	"77266752"	"del"	"0"	"01594"	"ATP7A_000157"	"g.77266751_77266752del"	""	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	""	"DS (ACAgtaagt>ACAgagt)"	"Ex 8 skips (frame shift)"	"Germline"	""	""	"0"	""	""	"g.78011254_78011255del"	""	"pathogenic (recessive)"	""
"0000695336"	"0"	"97"	"X"	"77266753"	"77266753"	"subst"	"0"	"01594"	"ATP7A_000158"	"g.77266753A>G"	""	"{PMID:Moizard 2010:21208200}"	""	""	"Ex 8 skips (frame shift)"	"De novo"	""	""	"0"	""	""	"g.78011256A>G"	""	"pathogenic (recessive)"	""
"0000695337"	"21"	"97"	"X"	"77266754"	"77266754"	"subst"	"0"	"01594"	"ATP7A_000159"	"g.77266754G>C"	""	"{PMID:Tümer 1997:8981948}"	""	"DS (ACAgtaag>ACAgtaac)"	""	"Germline"	""	""	"0"	""	""	"g.78011257G>C"	""	"pathogenic (recessive)"	""
"0000695338"	"0"	"97"	"X"	"77266754"	"77266754"	"subst"	"0"	"01594"	"ATP7A_000159"	"g.77266754G>C"	""	"{PMID:Moizard 2010:21208200}"	""	""	"Normal size"	"Germline"	""	""	"0"	""	""	"g.78011257G>C"	""	"pathogenic (recessive)"	""
"0000695339"	"0"	"97"	"X"	"77266754"	"77266754"	"subst"	"0"	"01594"	"ATP7A_000159"	"g.77266754G>C"	""	"{PMID:Moizard 2010:21208200}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011257G>C"	""	"pathogenic (recessive)"	""
"0000695340"	"0"	"97"	"X"	"77266754"	"77266754"	"subst"	"0"	"01594"	"ATP7A_000160"	"g.77266754G>A"	""	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	""	"DS (ACAgtaag>ACAgtaaa)"	"Ex 8 skips (frame shift)"	"De novo"	""	""	"0"	""	""	"g.78011257G>A"	""	"pathogenic (recessive)"	""
"0000695341"	"21"	"97"	"X"	"77266755"	"77266755"	"subst"	"0"	"01594"	"ATP7A_000161"	"g.77266755T>G"	""	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	""	"DS (ACAgtaagt>ACAgtaagg)"	"Ex 8 skips (frame shift)"	"Germline"	""	""	"0"	""	""	"g.78011258T>G"	""	"pathogenic (recessive)"	""
"0000695342"	"0"	"97"	"X"	"77266945"	"77266945"	"subst"	"0"	"01594"	"ATP7A_000162"	"g.77266945G>T"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011448G>T"	""	"pathogenic (recessive)"	""
"0000695343"	"0"	"97"	"X"	"77267172"	"77267172"	"subst"	"0"	"01594"	"ATP7A_000163"	"g.77267172G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011675G>A"	""	"pathogenic (recessive)"	""
"0000695344"	"21"	"97"	"X"	"77267176"	"77267176"	"subst"	"0"	"01594"	"ATP7A_000164"	"g.77267176G>C"	""	"{PMID:Ogawa 1999:10319589}, {PMID:Gu 2002:12427520}, {PMID:Skjørringe 2011:21494555}, {PMID:Gu2012:22361452}"	""	"IVS9 +5g>c"	"r.1947_2172del226 (ex9 skips, frame shift); r.1870_2172del303 (Ex 8-9 skips, in-frame)"	"Germline"	""	""	"0"	""	""	"g.78011679G>C"	""	"pathogenic (recessive)"	""
"0000695345"	"0"	"97"	"X"	"77267176"	"77267176"	"subst"	"0"	"01594"	"ATP7A_000164"	"g.77267176G>C"	""	"{PMID:Moizard 2010:21208200}"	""	""	"r.1947_2172del226 (ex9 skips, frame shift)"	"Germline"	""	""	"0"	""	""	"g.78011679G>C"	""	"pathogenic (recessive)"	""
"0000695346"	"0"	"97"	"X"	"77267177"	"77267177"	"subst"	"0"	"01594"	"ATP7A_000165"	"g.77267177T>G"	""	"{PMID:Kaler 2008:18256395}, {PMID:Skjørringe 2011:21494555}, {PMID:Kaler 2010:20652413}"	""	"IVS9,DS,+6T>G"	"wild type; r.1947_2172del226 (ex9 skips, frame shift) (ony ex8/ex10 primers used)"	"Germline"	""	""	"0"	""	""	"g.78011680T>G"	""	"pathogenic (recessive)"	""
"0000695347"	"0"	"97"	"X"	"77267176"	"77267190"	"del"	"0"	"01594"	"ATP7A_000166"	"g.77267176_77267190del"	""	"{PMID:Skjørringe 2011:21494555}"	""	"2172+5_+19delGTGAATTGTTAGCAA"	""	"Germline"	""	""	"0"	""	""	"g.78011679_78011693del"	""	"pathogenic (recessive)"	""
"0000695348"	"0"	"97"	"X"	"77268375"	"77268375"	"subst"	"0"	"01594"	"ATP7A_000167"	"g.77268375G>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78012878G>C"	""	"pathogenic (recessive)"	""
"0000695349"	"0"	"97"	"X"	"77268612"	"77268612"	"subst"	"0"	"01594"	"ATP7A_000168"	"g.77268612A>T"	""	"{PMID:Qi 1998:9467005}"	""	"IVS10A+3>T"	"Ex10 skips (in-frame); in high Cu ATP7A remains in ER and is not translocated to Golgi"	"Germline"	""	""	"0"	""	""	"g.78013115A>T"	""	"pathogenic (recessive)"	""
"0000695350"	"0"	"97"	"X"	"77270157"	"77270157"	"subst"	"0"	"01594"	"ATP7A_000169"	"g.77270157A>G"	""	"{PMID:Moizard 2010:21208200}"	""	""	"Ex11 skips (frame shift)"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695351"	"0"	"97"	"X"	"77270251"	"77270251"	"subst"	"0"	"01594"	"ATP7A_000170"	"g.77270251G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78014754G>A"	""	"pathogenic (recessive)"	""
"0000695352"	"21"	"97"	"X"	"77271250"	"77271250"	"subst"	"0"	"01594"	"ATP7A_000171"	"g.77271250G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78015753G>A"	""	"pathogenic (recessive)"	""
"0000695353"	"0"	"97"	"X"	"77271250"	"77271250"	"subst"	"0"	"01594"	"ATP7A_000171"	"g.77271250G>A"	""	"{PMID:Kaler 2010:20652413}"	""	"IVS11 AS-1, g>a"	""	"Germline"	""	""	"0"	""	""	"g.78015753G>A"	""	"pathogenic (recessive)"	""
"0000695354"	"0"	"97"	"X"	"77271379"	"77271379"	"subst"	"0"	"01594"	"ATP7A_000172"	"g.77271379G>A"	""	"{PMID:Kaler 2010:20652413}"	""	"IVS12 DS +1 g>a"	""	"Germline"	""	""	"0"	""	""	"g.78015882G>A"	""	"pathogenic (recessive)"	""
"0000695355"	"0"	"97"	"X"	"77271380"	"77271380"	"subst"	"0"	"01594"	"ATP7A_000173"	"g.77271380T>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78015883T>A"	""	"pathogenic (recessive)"	""
"0000695356"	"0"	"97"	"X"	"77275739"	"77275739"	"subst"	"0"	"01594"	"ATP7A_000174"	"g.77275739A>G"	""	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	""	"AS (agGGG>ggGGG)"	""	"De novo"	""	""	"0"	""	""	"g.78020242A>G"	""	"pathogenic (recessive)"	""
"0000695357"	"0"	"97"	"X"	"77275896"	"77275896"	"subst"	"0"	"01594"	"ATP7A_000175"	"g.77275896G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78020399G>A"	""	"pathogenic (recessive)"	""
"0000695358"	"0"	"97"	"X"	"77276577"	"77276577"	"subst"	"0"	"01594"	"ATP7A_000176"	"g.77276577G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78021080G>A"	""	"pathogenic (recessive)"	""
"0000695359"	"0"	"97"	"X"	"77276579"	"77276582"	"del"	"0"	"01594"	"ATP7A_000177"	"g.77276579_77276582del"	""	"{PMID:Skjørringe 2011:21494555}"	""	"2916+3_2916+6delAAGT"	""	"Germline"	""	""	"0"	""	""	"g.78021082_78021085del"	""	"pathogenic (recessive)"	""
"0000695360"	"21"	"97"	"X"	"77276581"	"77276581"	"subst"	"0"	"01594"	"ATP7A_000178"	"g.77276581G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78021084G>A"	""	"pathogenic (recessive)"	""
"0000695361"	"0"	"97"	"X"	"77284743"	"77284743"	"subst"	"0"	"01594"	"ATP7A_000179"	"g.77284743A>G"	""	"{PMID:Das 1995:7887410}, {PMID:Skjørringe 2011:21494555}"	""	"-4, A to G, intron before nt3062"	"Wild type, reduced level; r.2917_3111del195 (ex15 skips, in-frame), abundant transcript; r.2782_3111del330 (ex14-15 skips, in-frame); r.2782_3294del513 (ex14-16 skips, in-frame). Normal amount and size with NB"	"De novo"	""	""	"0"	""	""	"g.78029246A>G"	""	"pathogenic (recessive)"	""
"0000695362"	"0"	"97"	"X"	"77284945"	"77284945"	"subst"	"0"	"01594"	"ATP7A_000180"	"g.77284945A>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78029448A>C"	""	"pathogenic (recessive)"	""
"0000695363"	"0"	"97"	"X"	"77286897"	"77286897"	"subst"	"0"	"01594"	"ATP7A_000181"	"g.77286897G>A"	""	"{PMID:Kaler 2010:20652413}"	""	"IVS15 AS -1 g>a"	""	"Germline"	""	""	"0"	""	""	"g.78031399G>A"	""	"pathogenic (recessive)"	""
"0000695364"	"0"	"97"	"X"	"77286896"	"77286896"	"subst"	"0"	"01594"	"ATP7A_000182"	"g.77286896A>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78031398A>C"	""	"pathogenic (recessive)"	""
"0000695365"	"0"	"97"	"X"	"77286896"	"77286896"	"subst"	"0"	"01594"	"ATP7A_000183"	"g.77286896A>G"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78031398A>G"	""	"pathogenic (recessive)"	""
"0000695366"	"0"	"97"	"X"	"77287081"	"77287081"	"subst"	"0"	"01594"	"ATP7A_000184"	"g.77287081G>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78031583G>C"	""	"pathogenic (recessive)"	""
"0000695367"	"0"	"97"	"X"	"77287082"	"77287082"	"subst"	"0"	"01594"	"ATP7A_000185"	"g.77287082T>C"	""	"{PMID:Moizard 2010:21208200}"	""	""	"Ex16 skips (in-frame)"	"Germline"	""	""	"0"	""	""	"g.78031584T>C"	""	"pathogenic (recessive)"	""
"0000695368"	"0"	"97"	"X"	"77287082"	"77287082"	"subst"	"0"	"01594"	"ATP7A_000185"	"g.77287082T>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78031584T>C"	""	"pathogenic (recessive)"	""
"0000695369"	"0"	"97"	"X"	"77289320"	"77289320"	"subst"	"0"	"01594"	"ATP7A_000186"	"g.77289320G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78033822G>A"	""	"pathogenic (recessive)"	""
"0000695370"	"0"	"97"	"X"	"77289324"	"77289324"	"subst"	"0"	"01594"	"ATP7A_000187"	"g.77289324G>A"	""	"{PMID:Levinson 1993:8490656}, {PMID:Das 1995:7887410}, {PMID:Skjørringe 2011:21494555}"	""	"+5, G to A, intron after nt3656"	"Wild type, reduced level; r.3295_3511del217 (ex17 skips, frame shift), abundant transcript. Reduced mRNA with northern blot"	"Germline"	""	""	"0"	""	""	"g.78033826G>A"	""	"pathogenic (recessive)"	""
"0000695371"	"0"	"97"	"X"	"77294481"	"77294481"	"del"	"0"	"01594"	"ATP7A_000188"	"g.77294481del"	""	"{PMID:Skjørringe 2011:21494555}"	""	"3658+1delG"	""	"Germline"	""	""	"0"	""	""	"g.78038983del"	""	"pathogenic (recessive)"	""
"0000695372"	"21"	"97"	"X"	"77296232"	"77296232"	"subst"	"0"	"01594"	"ATP7A_000189"	"g.77296232G>T"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78040734G>T"	""	"pathogenic (recessive)"	""
"0000695373"	"0"	"97"	"X"	"77296234"	"77296234"	"subst"	"0"	"01594"	"ATP7A_000190"	"g.77296234A>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78040736A>C"	""	"pathogenic (recessive)"	""
"0000695374"	"20"	"97"	"X"	"77296235"	"77296235"	"subst"	"0"	"01594"	"ATP7A_000191"	"g.77296235A>G"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78040737A>G"	""	"pathogenic (recessive)"	""
"0000695375"	"0"	"97"	"X"	"77298287"	"77298287"	"subst"	"0"	"01594"	"ATP7A_000192"	"g.77298287G>T"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78042789G>T"	""	"pathogenic (recessive)"	""
"0000695376"	"21"	"97"	"X"	"77298291"	"77298291"	"subst"	"0"	"01594"	"ATP7A_000193"	"g.77298291G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78042793G>A"	""	"pathogenic (recessive)"	""
"0000695377"	"0"	"97"	"X"	"77298813"	"77298813"	"subst"	"0"	"01594"	"ATP7A_000194"	"g.77298813A>G"	""	"{PMID:Das 1994:7977350}, {PMID:Skjørringe 2011:21494555}, {PMID:Bell 2011:21228398}"	""	"agAA>ggAA junction 4150/4151"	"Two transcripts : 1.CSS in ex21 (frame shift) ; 2. ex21 skips (frame shift). Normal mRNA level with northern blot."	"Germline"	""	""	"0"	""	""	"g.78043315A>G"	""	"pathogenic (recessive)"	""
"0000695378"	"0"	"97"	"X"	"77298933"	"77298933"	"subst"	"0"	"01594"	"ATP7A_000195"	"g.77298933G>A"	""	"{PMID:Watanabe 2005:15693857}, {PMID:Skjørringe 2011:21494555}"	""	"CTGgt>CTGat"	""	"Germline"	""	""	"0"	""	""	"g.78043435G>A"	""	"pathogenic (recessive)"	""
"0000695379"	"0"	"97"	"X"	"77298935"	"77298935"	"subst"	"0"	"01594"	"ATP7A_000196"	"g.77298935A>T"	""	"{PMID:Kaler 1994:7842019}"	""	"A to T transversion at +3 intronic position in exonY/intronY junction"	"Two transcripts: 1. Normal size; 2. ex21 skips (frame shift)"	"Germline"	""	""	"0"	""	""	"g.78043437A>T"	""	"pathogenic (recessive)"	""
"0000695380"	"21"	"97"	"X"	"77298935"	"77298935"	"subst"	"0"	"01594"	"ATP7A_000196"	"g.77298935A>T"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78043437A>T"	""	"pathogenic (recessive)"	""
"0000695381"	"1"	"97"	"X"	"77298937"	"77298937"	"subst"	"0"	"01594"	"ATP7A_000197"	"g.77298937G>A"	""	"{PMID:Skjørringe 2011:21494555}, {PMID:Moller 2012:22264391}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78043439G>A"	""	"pathogenic (recessive)"	""
"0000695382"	"0"	"97"	"X"	"77301070"	"77301070"	"subst"	"0"	"01594"	"ATP7A_000198"	"g.77301070G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	"Skips ex22 (in-frame)"	"Germline"	""	""	"0"	""	""	"g.78045573G>A"	""	"pathogenic (recessive)"	""
"0000695383"	"0"	"97"	"X"	"77301071"	"77301071"	"subst"	"0"	"01594"	"ATP7A_000199"	"g.77301071T>C"	""	"{PMID:Tümer 1997:8981948}, {PMID:Skjørringe 2011:21494555}"	""	"DS (ACTgt>ACTgc)"	"Skips ex22 (in-frame)"	"De novo"	""	""	"0"	""	""	"g.78045574T>C"	""	"pathogenic (recessive)"	""
"0000695384"	"0"	"97"	"X"	"77301074"	"77301074"	"subst"	"0"	"01594"	"ATP7A_000200"	"g.77301074G>A"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	"Skips ex22 (in-frame)"	"Germline"	""	""	"0"	""	""	"g.78045577G>A"	""	"pathogenic (recessive)"	""
"0000695385"	"0"	"97"	"X"	"77301075"	"77301075"	"subst"	"0"	"01594"	"ATP7A_000201"	"g.77301075T>C"	""	"{PMID:Skjørringe 2011:21494555}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78045578T>C"	""	"pathogenic (recessive)"	""
"0000695386"	"0"	"97"	"X"	"77243740"	"77254183"	"dup"	"0"	"01594"	"ATP7A_000202"	"g.(77227262_77243740)_(77254183_77258570)dup"	""	"{PMID:Moizard 2010:21208200}"	""	"c.121-?_1543+?dup"	"cDNA fragment joining exons 2 to 5"	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(77998686_78003073)dup"	""	"pathogenic (recessive)"	""
"0000695387"	"0"	"97"	"X"	"77227117"	"77276578"	"dup"	"0"	"01594"	"ATP7A_000203"	"g.(77166333_77227117)_(77276578_77284747)dup"	""	"{PMID:Moizard 2010:21208200}"	""	"r.-21_2916dup"	"cDNA fragment joining exons 2 to 14"	"Germline"	""	""	"0"	""	""	"g.(77910836_77971620)_(78021081_78029250)dup"	""	"pathogenic (recessive)"	""
"0000695388"	"0"	"97"	"X"	"77266672"	"77271380"	"dup"	"0"	"01594"	"ATP7A_000204"	"g.(77264761_77266672)_(77271380_77275741)dup"	""	"{PMID:Moizard 2010:21208200}"	""	"c.1870-?_2626+?dup"	"cDNA fragment joining exons 8 to 12"	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78015883_78020244)dup"	""	"pathogenic (recessive)"	""
"0000695389"	"0"	"97"	"X"	"77266672"	"77289320"	"dup"	"0"	"01594"	"ATP7A_000205"	"g.(77264761_77266672)_(77289320_77294333)dup"	""	"{PMID:Moizard 2010:21208200}"	""	"c.1870-?_3511+?dup"	"cDNA fragment joining exons 8 to 17"	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78033822_78038835)dup"	""	"pathogenic (recessive)"	""
"0000695390"	"21"	"97"	"X"	"77166194"	"77166333"	"del"	"0"	"01594"	"ATP7A_000206"	"g.(?_77166194)_(77166333_77227117)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.-160-?_-22+?del"	""	"Germline"	""	""	"0"	""	""	"g.(?_77910697)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695391"	"1"	"97"	"X"	"77166194"	"77166333"	"del"	"0"	"01594"	"ATP7A_000206"	"g.(?_77166194)_(77166333_77227117)del"	""	"{PMID:Tümer 2003:14635105}, {PMID:Moller 2012:22264391}"	""	"c.-160-?_-22+?del"	""	"Germline"	""	""	"0"	""	""	"g.(?_77910697)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695392"	"21"	"97"	"X"	"77166194"	"77166333"	"del"	"0"	"01594"	"ATP7A_000206"	"g.(?_77166194)_(77166333_77227117)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.-160-?_-22+?del"	""	"Germline"	""	""	"0"	""	""	"g.(?_77910697)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695393"	"0"	"97"	"X"	"77166194"	"77166333"	"del"	"0"	"01594"	"ATP7A_000206"	"g.(?_77166194)_(77166333_77227117)del"	""	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	""	"del ex1"	"no ATP7A signal in patient fibroblasts"	"Germline"	""	""	"0"	""	""	"g.(?_77910697)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695394"	"0"	"97"	"X"	"77166194"	"77166333"	"del"	"0"	"01594"	"ATP7A_000206"	"g.(?_77166194)_(77166333_77227117)del"	""	"{PMID:Moizard 2010:21208200}"	""	"c.-160-?_-22+?del"	""	"Germline"	""	""	"0"	""	""	"g.(?_77910697)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695395"	"0"	"97"	"X"	"77227117"	"77258736"	"del"	"0"	"01594"	"ATP7A_000207"	"g.(77166333_77227117)_(77258736_77264600)del"	""	"{PMID:Tümer 1994b:7807930}, {PMID:Tümer 2003:14635105}"	""	"1-?_1707+?del"	""	"De novo"	""	""	"0"	""	""	"g.(77910836_77971620)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695396"	"21"	"97"	"X"	"77227117"	"77258736"	"del"	"0"	"01594"	"ATP7A_000207"	"g.(77166333_77227117)_(77258736_77264600)del"	""	"{PMID:Tümer 2003:14635105}"	""	"1-?_1707+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77910836_77971620)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695397"	"0"	"97"	"X"	"77227117"	"77258736"	"del"	"0"	"01594"	"ATP7A_000207"	"g.(77166333_77227117)_(77258736_77264600)del"	""	"{PMID:Tümer 2003:14635105}"	""	"1-?_1707+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77910836_77971620)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695398"	"0"	"97"	"X"	"77227117"	"77267172"	"del"	"0"	"01594"	"ATP7A_000208"	"g.(77166333_77227117)_(77267172_77268375)del"	""	"{PMID:Tümer 2003:14635105}"	""	"1-?_2172+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77910836_77971620)_(78011675_78012878)del"	""	"pathogenic (recessive)"	""
"0000695399"	"0"	"97"	"X"	"77227117"	"77276578"	"del"	"0"	"01594"	"ATP7A_000209"	"g.(77166333_77227117)_(77276578_77284747)del"	""	"{PMID:Tümer 2003:14635105}"	""	"1-?_2916+?del"	""	"De novo"	""	""	"0"	""	""	"g.(77910836_77971620)_(78021081_78029250)del"	""	"pathogenic (recessive)"	""
"0000695400"	"0"	"97"	"X"	"77227117"	"77284946"	"del"	"0"	"01594"	"ATP7A_000210"	"g.(77166333_77227117)_(77284946_77286901)del"	""	"{PMID:Tümer 2003:14635105}"	""	"1-?_3111+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77910836_77971620)_(78029449_78031403)del"	""	"pathogenic (recessive)"	""
"0000695401"	"0"	"97"	"X"	"77227117"	"77289320"	"del"	"0"	"01594"	"ATP7A_000211"	"g.(77166333_77227117)_(77289320_77294333)del"	""	"{PMID:Tümer 2003:14635105}"	""	"1-?_3511+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77910836_77971620)_(78033822_78038835)del"	""	"pathogenic (recessive)"	""
"0000695402"	"0"	"97"	"X"	"77227117"	"77294481"	"del"	"0"	"01594"	"ATP7A_000212"	"g.(77166333_77227117)_(77294481_77296088)del"	""	"{PMID:Moizard 2010:21208200}"	""	"c.-21-?_3658+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77910836_77971620)_(78038983_78040590)del"	""	"pathogenic (recessive)"	""
"0000695403"	"21"	"97"	"X"	"77243740"	"77245455"	"del"	"0"	"01594"	"ATP7A_000213"	"g.(77227262_77243740)_(77245455_77253974)del"	""	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2000b:12485192}, {PMID:Paulsen 2006:16826513}"	""	"c.121-?_1336+?del"	"Translation reinitiation. frame shift"	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(77989959_77998477)del"	""	"pathogenic (recessive)"	""
"0000695404"	"21"	"97"	"X"	"77243740"	"77245455"	"del"	"0"	"01594"	"ATP7A_000213"	"g.(77227262_77243740)_(77245455_77253974)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.121-?_1336+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(77989959_77998477)del"	""	"pathogenic (recessive)"	""
"0000695405"	"21"	"97"	"X"	"77243740"	"77268611"	"del"	"0"	"01594"	"ATP7A_000214"	"g.(77227262_77243740)_(77268611_77270159)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.121-?_2406+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(78013114_78014662)del"	""	"pathogenic (recessive)"	""
"0000695406"	"0"	"97"	"X"	"77243740"	"77268611"	"del"	"0"	"01594"	"ATP7A_000214"	"g.(77227262_77243740)_(77268611_77270159)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.121-?_2406+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(78013114_78014662)del"	""	"pathogenic (recessive)"	""
"0000695407"	"0"	"97"	"X"	"77243740"	"77287082"	"del"	"0"	"01594"	"ATP7A_000215"	"g.(77227262_77243740)_(77287082_77289103)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.121-?_3294+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(78031584_78033605)del"	""	"pathogenic (recessive)"	""
"0000695408"	"0"	"97"	"X"	"77243740"	"77298287"	"del"	"0"	"01594"	"ATP7A_000216"	"g.(77227262_77243740)_(77298287_77298814)del"	""	"{PMID:Moizard 2010:21208200}"	""	"c.121-?_4005+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(78042789_78043316)del"	""	"pathogenic (recessive)"	""
"0000695409"	"0"	"97"	"X"	"77243740"	"77305892"	"del"	"0"	"01594"	"ATP7A_000217"	"g.(77227262_77243740)_(77305892_?)del"	""	"{PMID:Tümer 1994b:7807930}, {PMID:Tümer 2003:14635105}"	""	"c.121-?_8333+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695410"	"0"	"97"	"X"	"77243740"	"77305892"	"del"	"0"	"01594"	"ATP7A_000217"	"g.(77227262_77243740)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.121-?_8333+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695411"	"0"	"97"	"X"	"77243740"	"77305892"	"del"	"0"	"01594"	"ATP7A_000217"	"g.(77227262_77243740)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.121-?_8333+?del"	""	"De novo"	""	""	"0"	""	""	"g.(77971765_77988244)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695412"	"0"	"97"	"X"	"77243740"	"77305892"	"del"	"0"	"01594"	"ATP7A_000217"	"g.(77227262_77243740)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.121-?_8333+?del"	"gonadal mosaicism, mother normal"	"Somatic"	""	""	"0"	""	""	"g.(77971765_77988244)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695413"	"0"	"97"	"X"	"77244728"	"77245455"	"del"	"0"	"01594"	"ATP7A_000218"	"g.(77244228_77244728)_(77245455_77253974)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.611-?_1336+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77988732_77989232)_(77989959_77998477)del"	""	"pathogenic (recessive)"	""
"0000695414"	"21"	"97"	"X"	"77253975"	"77264760"	"del"	"0"	"01594"	"ATP7A_000219"	"g.(77245455_77253974)_((77264761_77266672)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1337-?_1869+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77989959_77998477)_((78009264_78011175)del"	""	"pathogenic (recessive)"	""
"0000695415"	"0"	"97"	"X"	"77253975"	"77264760"	"del"	"0"	"01594"	"ATP7A_000219"	"g.(77245455_77253974)_((77264761_77266672)del"	""	"{PMID:Poulsen 2002b:12485192}"	""	"del ex5-8"	""	"Germline"	""	""	"0"	""	""	"g.(77989959_77998477)_((78009264_78011175)del"	""	"pathogenic (recessive)"	""
"0000695416"	"21"	"97"	"X"	"77253974"	"77271380"	"del"	"0"	"01594"	"ATP7A_000221"	"g.(77245455_77253974)_(77271380_77275741)del"	""	"{PMID:Tümer 1994a:7815418}, {PMID:7807930:Tümer 1994b}, {PMID:Tümer 2003:14635105}"	""	"c.1337-?_2626+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77989959_77998477)_(78015883_78020244)del"	""	"pathogenic (recessive)"	""
"0000695417"	"21"	"97"	"X"	"77253974"	"77294481"	"del"	"0"	"01594"	"ATP7A_000222"	"g.(77245455_77253974)_(77294481_77296088)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1337-?_3658+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77989959_77998477)_(78038983_78040590)del"	""	"pathogenic (recessive)"	""
"0000695418"	"0"	"97"	"X"	"77253974"	"77305892"	"del"	"0"	"01594"	"ATP7A_000223"	"g.(77245455_77253974)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1337-?_5729+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77989959_77998477)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695419"	"1"	"97"	"X"	"77258570"	"77258736"	"del"	"0"	"01594"	"ATP7A_000224"	"g.(77254183_77258570)_(77258736_77264600)del"	""	"{PMID:Tümer 2003:14635105}, {PMID:Moller 2012:22264391}"	""	"c.1544-?_1707+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695420"	"0"	"97"	"X"	"77258570"	"77258736"	"del"	"0"	"01594"	"ATP7A_000224"	"g.(77254183_77258570)_(77258736_77264600)del"	""	"{PMID:Moizard 2010:21208200}"	""	"c.1544-?_1707+?del"	"r.= (faint); r.1544_1707del (frame shift)"	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695421"	"21"	"97"	"X"	"77258570"	"77264760"	"del"	"0"	"01594"	"ATP7A_000225"	"g.(77254183_77258570)_((77264761_77266672)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1544-?_1869+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_((78009264_78011175)del"	""	"pathogenic (recessive)"	""
"0000695422"	"1"	"97"	"X"	"77258570"	"77267172"	"del"	"0"	"01594"	"ATP7A_000226"	"g.(77254183_77258570)_(77267172_77268375)del"	""	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2002a:12485191}, {PMID:Poulsen 2002b:12485192}, {PMID:Moller 2012:22264391}"	""	"c.1544-?_2172+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_(78011675_78012878)del"	""	"pathogenic (recessive)"	""
"0000695423"	"0"	"97"	"X"	"77258570"	"77267172"	"del"	"0"	"01594"	"ATP7A_000226"	"g.(77254183_77258570)_(77267172_77268375)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1544-?_2172+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_(78011675_78012878)del"	""	"pathogenic (recessive)"	""
"0000695424"	"0"	"97"	"X"	"77258570"	"77271380"	"del"	"0"	"01594"	"ATP7A_000227"	"g.(77254183_77258570)_(77271380_77275741)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1544-?_2626+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_(78015883_78020244)del"	""	"pathogenic (recessive)"	""
"0000695425"	"21"	"97"	"X"	"77258570"	"77271380"	"del"	"0"	"01594"	"ATP7A_000227"	"g.(77254183_77258570)_(77271380_77275741)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1544-?_2626+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_(78015883_78020244)del"	""	"pathogenic (recessive)"	""
"0000695426"	"21"	"97"	"X"	"77258570"	"77276578"	"del"	"0"	"01594"	"ATP7A_000228"	"g.(77254183_77258570)_(77276578_77284747)del"	""	"{PMID:Park 2009:19429807}"	""	"c.1544-?_2916+?del"	""	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_(78021081_78029250)del"	""	"pathogenic (recessive)"	""
"0000695427"	"0"	"97"	"X"	"77258570"	"77305892"	"del"	"0"	"01594"	"ATP7A_000229"	"g.(77254183_77258570)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2002b:12485192}"	""	"c.1544-?_8333+?del"	""	"De novo"	""	""	"0"	""	""	"g.(77998686_78003073)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695428"	"0"	"97"	"X"	"77264600"	"77289320"	"del"	"0"	"01594"	"ATP7A_000230"	"g.(77258736_77264600)_(77289320_77294333)del"	""	"{PMID:Tümer 2003:14635105}; {PMID:Poulsen 2002a:12485191}"	""	"c.1708-?_3511+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78003239_78009103)_(78033822_78038835)del"	""	"pathogenic (recessive)"	""
"0000695429"	"0"	"97"	"X"	"77264600"	"77296234"	"del"	"0"	"01594"	"ATP7A_000231"	"g.(77258736_77264600)_(77296234_77298084)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1708-?_3801+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78003239_78009103)_(78040736_78042586)del"	""	"pathogenic (recessive)"	""
"0000695430"	"0"	"97"	"X"	"77264600"	"77296234"	"del"	"0"	"01594"	"ATP7A_000231"	"g.(77258736_77264600)_(77296234_77298084)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1708-?_3801+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78003239_78009103)_(78040736_78042586)del"	""	"pathogenic (recessive)"	""
"0000695431"	"0"	"97"	"X"	"77264598"	"77296232"	"del"	"0"	"01594"	"ATP7A_000231"	"g.(77258734_77264598)_(77296232_77298082)del"	""	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	""	"Del ex7-19"	""	"Germline"	""	""	"0"	""	""	"g.(78003237_78009101)_(78040734_78042584)del"	""	"pathogenic (recessive)"	""
"0000695432"	"21"	"97"	"X"	"77266672"	"77276578"	"del"	"0"	"01594"	"ATP7A_000232"	"g.(77264761_77266672)_(77276578_77284747)del"	""	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2002a:12485191}, {PMID:Poulsen 2002b:12485192}"	""	"c.1870-?_2916+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78021081_78029250)del"	""	"pathogenic (recessive)"	""
"0000695433"	"0"	"97"	"X"	"77266672"	"77276578"	"del"	"0"	"01594"	"ATP7A_000232"	"g.(77264761_77266672)_(77276578_77284747)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1870-?_2916+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78021081_78029250)del"	""	"pathogenic (recessive)"	""
"0000695434"	"21"	"97"	"X"	"77266672"	"77284946"	"del"	"0"	"01594"	"ATP7A_000233"	"g.(77264761_77266672)_(77284946_77286901)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1870-?_3111+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78029449_78031403)del"	""	"pathogenic (recessive)"	""
"0000695435"	"0"	"97"	"X"	"77266945"	"77267172"	"del"	"0"	"01594"	"ATP7A_000234"	"g.(77266750_77266945)_(77267172_77268375)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.1947-?_2172+?del"	""	"De novo"	""	""	"0"	""	""	"g.(78011253_78011448)_(78011675_78012878)del"	""	"pathogenic (recessive)"	""
"0000695436"	"21"	"97"	"X"	"77268375"	"77276578"	"del"	"0"	"01594"	"ATP7A_000235"	"g.(77267172_77268375)_(77276578_77284747)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2173-?_2916+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78011675_78012878)_(78021081_78029250)del"	""	"pathogenic (recessive)"	""
"0000695437"	"0"	"97"	"X"	"77268375"	"77305892"	"del"	"0"	"01594"	"ATP7A_000236"	"g.(77267172_77268375)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2173-?_8333+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78011675_78012878)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695438"	"21"	"97"	"X"	"77270159"	"77305892"	"del"	"0"	"01594"	"ATP7A_000237"	"g.(77268611_77270159)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2407-?_8333+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78013114_78014662)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695439"	"21"	"97"	"X"	"77271250"	"77284946"	"del"	"0"	"01594"	"ATP7A_000238"	"g.(77270251_77271250)_(77284946_77286901)del"	""	"{PMID:Tümer 2003:14635105}, {PMID:Poulsen 2002a:12485191}, {PMID:Poulsen 2002b:12485192}"	""	"c.2499-?_3111+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78014754_78015753)_(78029449_78031403)del"	""	"pathogenic (recessive)"	""
"0000695440"	"0"	"97"	"X"	"77271250"	"77305892"	"del"	"0"	"01594"	"ATP7A_000239"	"g.(77270251_77271250)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2499-?_8333+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78014754_78015753)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695441"	"0"	"97"	"X"	"77275741"	"77276578"	"del"	"0"	"01594"	"ATP7A_000240"	"g.(77271380_77275741)_(77276578_77284747)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2627-?_2916+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78015883_78020244)_(78021081_78029250)del"	""	"pathogenic (recessive)"	""
"0000695442"	"0"	"97"	"X"	"77275741"	"77276578"	"del"	"0"	"01594"	"ATP7A_000240"	"g.(77271380_77275741)_(77276578_77284747)del"	""	"{PMID:Kaler 2010:20652413}, {PMID:Desai 2011:20497190}"	""	"Del 13-14"	""	"Germline"	""	""	"0"	""	""	"g.(78015883_78020244)_(78021081_78029250)del"	""	"pathogenic (recessive)"	""
"0000695443"	"21"	"97"	"X"	"77275741"	"77289320"	"del"	"0"	"01594"	"ATP7A_000241"	"g.(77271380_77275741)_(77289320_77294333)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2627-?_3511+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78015883_78020244)_(78033822_78038835)del"	""	"pathogenic (recessive)"	""
"0000695444"	"0"	"97"	"X"	"77275741"	"77298934"	"del"	"0"	"01594"	"ATP7A_000242"	"g.(77271380_77275741)_(77298934_77300967)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2627-?_4123+?del"	""	"De novo"	""	""	"0"	""	""	"g.(78015883_78020244)_(78043436_78045470)del"	""	"pathogenic (recessive)"	""
"0000695445"	"0"	"97"	"X"	"77284747"	"77287082"	"del"	"0"	"01594"	"ATP7A_000243"	"g.(77276578_77284747)_(77287082_77289103)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2917-?_3294+?del"	""	"De novo"	""	""	"0"	""	""	"g.(78021081_78029250)_(78031584_78033605)del"	""	"pathogenic (recessive)"	""
"0000695446"	"21"	"97"	"X"	"77284747"	"77289320"	"del"	"0"	"01594"	"ATP7A_000244"	"g.(77276578_77284747)_(77289320_77294333)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2917-?_3511+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78021081_78029250)_(78033822_78038835)del"	""	"pathogenic (recessive)"	""
"0000695447"	"0"	"97"	"X"	"77284747"	"77305892"	"del"	"0"	"01594"	"ATP7A_000245"	"g.(77276578_77284747)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2917-?_8333+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78021081_78029250)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695448"	"0"	"97"	"X"	"77284747"	"77305892"	"del"	"0"	"01594"	"ATP7A_000245"	"g.(77276578_77284747)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2917-?_8333+?del"	""	"De novo"	""	""	"0"	""	""	"g.(78021081_78029250)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695449"	"0"	"97"	"X"	"77284747"	"77305892"	"del"	"0"	"01594"	"ATP7A_000245"	"g.(77276578_77284747)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.2917-?_8333+?del"	""	"De novo"	""	""	"0"	""	""	"g.(78021081_78029250)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695450"	"0"	"97"	"X"	"77289103"	"77294481"	"del"	"0"	"01594"	"ATP7A_000246"	"g.(77287082_77289103)_(77294481_77296088)del"	""	"{PMID:Moizard 2010:21208200}"	""	"c.3295-?_3658+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78031584_78033605)_(78038983_78040590)del"	""	"pathogenic (recessive)"	""
"0000695451"	"0"	"97"	"X"	"77294333"	"77298287"	"del"	"0"	"01594"	"ATP7A_000247"	"g.(77289320_77294333)_(77298287_77298814)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.3512-?_4005+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78033822_78038835)_(78042789_78043316)del"	""	"pathogenic (recessive)"	""
"0000695452"	"21"	"97"	"X"	"77296088"	"77305892"	"del"	"0"	"01594"	"ATP7A_000248"	"g.(77294481_77296088)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.3659-?_5729+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78038983_78040590)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695453"	"21"	"97"	"X"	"77298084"	"77305892"	"del"	"0"	"01594"	"ATP7A_000249"	"g.(77296234_77298084)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.3802-?_8333+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78040736_78042586)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695454"	"0"	"97"	"X"	"77298084"	"77305892"	"del"	"0"	"01594"	"ATP7A_000249"	"g.(77296234_77298084)_(77305892_?)del"	""	"{PMID:Kaler 2008:18256395}, {PMID:Kaler 2010:20652413}"	""	"Del ex20-23"	"can not complement deletion>absence of any residual copper-transport function"	"Germline"	""	""	"0"	""	""	"g.(78040736_78042586)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695455"	"0"	"97"	"X"	"77298814"	"77298934"	"del"	"0"	"01594"	"ATP7A_000250"	"g.(77298287_77298814)_(77298934_77300967)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.4006-?_4123+?del"	""	"De novo"	""	""	"0"	""	""	"g.(78042789_78043316)_(78043436_78045470)del"	""	"pathogenic (recessive)"	""
"0000695456"	"0"	"97"	"X"	"77300967"	"77305892"	"del"	"0"	"01594"	"ATP7A_000251"	"g.(77298934_77300967)_(77305892_?)del"	""	"{PMID:Tümer 2003:14635105}"	""	"c.4124-?_5729+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78043436_78045470)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695457"	"0"	"97"	"X"	"77300967"	"77305892"	"del"	"0"	"01594"	"ATP7A_000252"	"g.(77298934_77300967)_(77305892_?)del"	""	"{PMID:Moizard 2010:21208200}"	""	"c.4124-?_4500+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78043436_78045470)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695458"	"0"	"97"	"X"	"77300967"	"77305892"	"del"	"0"	"01594"	"ATP7A_000252"	"g.(77298934_77300967)_(77305892_?)del"	""	"{PMID:Moizard 2010:21208200}"	""	"c.4124-?_4500+?del"	""	"Germline"	""	""	"0"	""	""	"g.(78043436_78045470)_(78050395_?)del"	""	"pathogenic (recessive)"	""
"0000695459"	"0"	"97"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000254"	"g.?"	""	"{PMID:Gerdes 1990:2289318}"	""	"46,XX/45,X (13/16)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695460"	"0"	"97"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000255"	"g.?"	""	"{PMID:Kapur 1987:3812600}; {PMID:Verga 1991:2035533}; {PMID:Tümer 1992b:1307248}"	""	"46,X,t(X;2)(q13;q32.2)de novo"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695461"	"21"	"97"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000256"	"g.?"	""	"{PMID:Tümer 1992a:1348049}"	""	"46,XY,ins(X)(p11.4q13.3q21.2)mat"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695462"	"0"	"97"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000257"	"g.?"	""	"{PMID:Beck 1994:7834894}"	""	"46,X,t(X;1)(q13;q12)de novo"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695463"	"0"	"97"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000258"	"g.?"	""	"{PMID:Sugio 1998:9788559}"	""	"46,X,t(X;21)(q13.3;p11.1)de novo"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695464"	"0"	"97"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000259"	"g.?"	""	"{PMID:Abusaad 1999:10588844}"	""	"46,X,t(X;13)(q13.3;q14.3)de novo"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695465"	"0"	"97"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000260"	"g.?"	""	"{PMID:Sirleto 2009:19092723}"	""	"46,X,t(X;16)(q13.3;p11.2)de novo"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695466"	"0"	"13"	"X"	"77165059"	"77165059"	"del"	"0"	"01594"	"ATP7A_000261"	"g.77165059del"	""	"{PMID:Gu 2001:11241493}"	""	"ins -1157C"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695467"	"0"	"13"	"X"	"77165117"	"77165118"	"delins"	"0"	"01594"	"ATP7A_000262"	"g.77165117_77165118delinsGT"	""	"{PMID:Gu 2001:11241493}"	""	"-1099--1098GT>AG"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695468"	"0"	"13"	"X"	"77165176"	"77165177"	"delins"	"0"	"01594"	"ATP7A_000263"	"g.77165176_77165177delinsCC"	""	"{PMID:Gu 2001:11241493}"	""	"-1040--1039CC>AA"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695469"	"0"	"13"	"X"	"77165183"	"77165183"	"subst"	"0"	"01594"	"ATP7A_000264"	"g.77165183C>A"	""	"{PMID:Gu 2001:11241493}"	""	"-1033A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695470"	"0"	"13"	"X"	"77165186"	"77165186"	"subst"	"0"	"01594"	"ATP7A_000265"	"g.77165186C>A"	""	"{PMID:Gu 2001:11241493}"	""	"-1030A>C"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695471"	"0"	"13"	"X"	"77165244"	"77165245"	"ins"	"0"	"01594"	"ATP7A_000266"	"g.77165244_77165245insCC"	""	"{PMID:Gu 2001:11241493}"	""	"del -971--970CC"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695472"	"0"	"13"	"X"	"77165279"	"77165280"	"ins"	"0"	"01594"	"ATP7A_000267"	"g.77165279_77165280insGGG"	""	"{PMID:Gu 2001:11241493}"	""	"del -934--932GGG"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695473"	"0"	"13"	"X"	"77165286"	"77165286"	"dup"	"0"	"01594"	"ATP7A_000268"	"g.77165286dup"	""	"{PMID:Gu 2001:11241493}"	""	"del -927T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695474"	"0"	"13"	"X"	"77165291"	"77165291"	"dup"	"0"	"01594"	"ATP7A_000269"	"g.77165291dup"	""	"{PMID:Gu 2001:11241493}"	""	"del -921A"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695475"	"0"	"13"	"X"	"77165329"	"77165329"	"del"	"0"	"01594"	"ATP7A_000270"	"g.77165329del"	""	"{PMID:Gu 2001:11241493}"	""	"ins -881C"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695476"	"0"	"13"	"X"	"77165362"	"77165363"	"delins"	"0"	"01594"	"ATP7A_000271"	"g.77165362_77165363delinsGC"	""	"{PMID:Gu 2001:11241493}"	""	"-842--847GC>CG"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695477"	"0"	"13"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000272"	"g.?"	""	"{PMID:Gu 2001:11241493}"	""	"-660--659GG>AA"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695478"	"0"	"13"	"X"	"77166018"	"77166018"	"subst"	"0"	"01594"	"ATP7A_000273"	"g.77166018A>G"	""	"{PMID:Gu 2001:11241493}"	""	"-192G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695479"	"0"	"13"	"X"	"77166073"	"77166073"	"dup"	"0"	"01594"	"ATP7A_000274"	"g.77166073dup"	""	"{PMID:Gu 2001:11241493}"	""	"del -136T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695480"	"0"	"13"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000275"	"g.?"	""	"{PMID:Gu 2001:11241493}"	""	"-45G>G or T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695481"	"0"	"13"	"X"	"77166299"	"77166299"	"subst"	"0"	"01594"	"ATP7A_000279"	"g.77166299C>T"	""	"Tumer unpublished, {PMID:Gu 2001:11241493}, {PMID:Watanabe 2005:15693857}"	""	"91T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695482"	"0"	"13"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000280"	"g.77242942GT[16_25]"	""	"{PMID:Beggy 1995:7649557}"	""	"(CA)A in intron 2"	"6 observed (GT) alleles, n= 16, 20, 21, 22, 23, 25"	"Germline"	""	""	"0"	""	""	"g.77987446GT[16_25]"	""	"benign"	""
"0000695483"	"0"	"13"	"X"	"77243944"	"77243944"	"subst"	"0.0101625"	"01594"	"ATP7A_000281"	"g.77243944G>A"	""	"{PMID:Poulsen 2002a:12485191}"	""	"472G>A (K109K)"	""	"Germline"	""	""	"0"	""	""	"g.77988448G>A"	""	"benign"	""
"0000695484"	"0"	"13"	"X"	"77245125"	"77245125"	"subst"	"0"	"01594"	"ATP7A_000276"	"g.77245125A>T"	""	"{PMID:Hahn 2001:11350187}"	""	"1152T>A (Val336Glu)"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695485"	"0"	"13"	"X"	"77245417"	"77245417"	"subst"	"0"	"01594"	"ATP7A_000282"	"g.77245417A>T"	""	"{PMID:Gu 2001:11241493}"	""	"1444A>T (G433G)"	""	"Germline"	""	""	"0"	""	""	"g.77989921A>T"	""	"benign"	""
"0000695486"	"0"	"13"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000283"	"g.77258298CA[19_24]"	""	"{PMID:Beggy 1995:7649557}"	""	"(CA)B in intron 5"	"6 observed (CA) alleles. n= 19, 20, 21, 22, 23, 24"	"Germline"	""	""	"0"	""	""	"g.78002801CA[19_24]"	""	"benign"	""
"0000695487"	"0"	"13"	"X"	"77254025"	"77254025"	"subst"	"0"	"01594"	"ATP7A_000284"	"g.77254025C>T"	""	"{PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Hahn 2001:11350187}, {PMID:Watanabe 2005:15693857}"	""	"1535C>T (L464L)"	""	"Germline"	""	""	"0"	""	""	"g.77998528C>T"	""	"benign"	""
"0000695488"	"0"	"13"	"X"	"77266648"	"77266648"	"subst"	"0"	"01594"	"ATP7A_000285"	"g.77266648A>C"	""	"{PMID:Poulsen 2002a:12485191}"	""	"IVS7-25A>C"	""	"Germline"	""	""	"0"	""	""	"g.78011151A>C"	""	"benign"	""
"0000695489"	"0"	"13"	"X"	"77267005"	"77267005"	"subst"	"0"	"01594"	"ATP7A_000286"	"g.77267005T>C"	""	"Tümer unpublished, {PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Hahn 2001:11350187}, {PMID:Watanabe 2005:15693857}"	""	"2151C>T (T669I)"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695490"	"0"	"13"	"X"	"77267105"	"77267105"	"subst"	"0"	"01594"	"ATP7A_000287"	"g.77267105G>T"	""	"{PMID:Gu 2001:11241493}"	""	"2251G>T (E702D)"	""	"Germline"	""	""	"0"	""	""	"g.78011608G>T"	""	"benign"	""
"0000695491"	"0"	"13"	"X"	"77267107"	"77267107"	"subst"	"5.59776E-6"	"01594"	"ATP7A_000288"	"g.77267107G>A"	""	"{PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Hahn 2001:11350187}"	""	"2253G>A (R703H)"	""	"Germline"	""	""	"0"	""	""	"g.78011610G>A"	""	"benign"	""
"0000695492"	"0"	"13"	"X"	"77268502"	"77268502"	"subst"	"0.237103"	"01594"	"ATP7A_000289"	"g.77268502G>C"	""	"{PMID:Das 1994:7977350}, {PMID:Tümer 1997:8981948}, {PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Zhang 2008:18272047}"	""	"2444G>C (V767L)"	""	"Germline"	""	""	"0"	""	""	"g.78013005G>C"	""	"benign"	""
"0000695493"	"0"	"13"	"X"	"77271385"	"77271385"	"subst"	"0"	"01594"	"ATP7A_000290"	"g.77271385T>G"	""	"{PMID:Hahn 2001:11350187}"	""	"IVS12+7G>T"	""	"Germline"	""	""	"0"	""	""	"g.78015888="	""	"benign"	""
"0000695494"	"0"	"13"	"X"	"77276413"	"77276413"	"subst"	"0.245564"	"01594"	"ATP7A_000291"	"g.77276413C>A"	""	"{PMID:Poulsen 2002a:12485191}"	""	"IVS13-29C>A"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695495"	"0"	"13"	"X"	"77294324"	"77294324"	"subst"	"0"	"01594"	"ATP7A_000292"	"g.77294324C>A"	""	"{PMID:Gu 2001:11241493}"	""	"IVS17-10C>A"	""	"Germline"	""	""	"0"	""	""	"g.78038826C>A"	""	"benign"	""
"0000695496"	"0"	"13"	"X"	"77294354"	"77294354"	"subst"	"5.60008E-6"	"01594"	"ATP7A_000293"	"g.77294354T>C"	""	"Tumer unpublished, {PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}, {PMID:Hahn 2001:11350187}, {PMID:Mak 2002:12088078}, {PMID:Poulsen 2002a:12485191}, {PMID:Watanabe 2005:15693857}"	""	"3677C>T (H1178Y)"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695497"	"0"	"13"	"X"	"77296081"	"77296081"	"subst"	"0"	"01594"	"ATP7A_000277"	"g.77296081T>G"	""	"{PMID:Gu 2001:11241493}, {PMID:Watanabe 2005:15693857}"	""	"IVS18-8G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000695498"	"0"	"13"	"X"	"77301080"	"77301080"	"subst"	"0.00998823"	"01594"	"ATP7A_000294"	"g.77301080T>C"	""	"{PMID:Poulsen 2002a:12485191}"	""	"IVS22>+11T>C"	""	"Germline"	""	""	"0"	""	""	"g.78045583T>C"	""	"benign"	""
"0000695499"	"0"	"13"	"X"	"77301117"	"77301117"	"subst"	"0.0148965"	"01594"	"ATP7A_000295"	"g.77301117A>G"	""	"{PMID:Poulsen 2002a:12485191}"	""	"IVS22>+48A>G"	""	"Germline"	""	""	"0"	""	""	"g.78045620A>G"	""	"benign"	""
"0000695500"	"0"	"13"	"X"	"77301954"	"77301954"	"subst"	"0.00129833"	"01594"	"ATP7A_000296"	"g.77301954A>G"	""	"{PMID:Ogawa 2000:11043517}, {PMID:Gu 2001:11241493}"	""	"4535A>G (I1464V)"	""	"Germline"	""	""	"0"	""	""	"g.78046457A>G"	""	"benign"	""
"0000695501"	"0"	"97"	"X"	"77166194"	"77166333"	""	"0"	"01594"	"ATP7A_000297"	"g.((?_77166194)_(77166333_77227117)del)"	""	"{PMID:Levinson 1994:8054976}, {PMID:Mercer 1994:8054977}, {PMID:Levinson 1997:9207785}, {PMID:Cunliffe 2001:11386751}"	""	"deletion promoter/exon 1"	"mouse model; 1.8 kb deletion including exon 1 and promoter region (-123-u1800?_-19+?del); reduced transcript levels"	"animal model"	""	""	"0"	""	""	"g.(?_77910697)_(78003239_78009103)del"	""	"pathogenic (recessive)"	""
"0000695502"	"0"	"97"	"X"	"77254157"	"77254157"	"subst"	"0"	"01594"	"ATP7A_000298"	"g.(77254157G>T)"	""	"J:138687 (The Jackson Laboratory)"	""	""	"mouse model (1492G>T (Glu498X))"	"animal model"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695503"	"0"	"97"	"X"	"77254113"	"77254113"	"subst"	"0"	"01594"	"ATP7A_000299"	"g.(77254113T>C)"	""	"J:153280 (The Jackson Laboratory)"	""	""	"mouse model (1448T>C (Ile483Thr))"	"animal model"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695504"	"0"	"97"	"X"	"77268383"	"77268384"	"ins"	"0"	"01594"	"ATP7A_000300"	"g.(77268383_77268384)insN[81]"	""	"{PMID:Cunliffe 2001:11386751}"	""	""	"mouse model, 81 bp insertion exon 10, activation cryptic splice acceptor in ex10 and in frame deletion of first 30 bp in exon 10"	"animal model"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695505"	"0"	"97"	"X"	"77270175"	"77270180"	"del"	"0"	"01594"	"ATP7A_000301"	"g.(77270175_77270180del)"	""	"{PMID:Grimes 1997:9215672}; {PMID:Reed 1997:9147645}; {PMID:La Fontaine 1999:10332039}; {PMID:Llanos 2006:16488577}"	""	"CTCTTG deletion, 2478-2483 (deletion of Leu and Ala)"	"mouse model (2396_2401delCTCTTG (Ala799_Pro800del)); Western blot: a normal sized protein at levels comparable to wild-type. Defective copper trafficking: ATP7A is at TGN at normal Cu levels, but still retains at TGN after Cu administration."	"animal model"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695506"	"0"	"97"	"X"	"77270253"	"77270253"	"subst"	"0"	"01594"	"ATP7A_000302"	"g.(77270253A>C)"	""	"{PMID:Levinson 1994:8054976}, {PMID:Mercer 1994:8054977}, {PMID:Das 1995:7887410}, {PMID:Cecchi 1997:9147646}, {PMID:La Fontaine 1999:0332039}"	""	"IVS11+3A>C"	"mouse model (2421+3A>C), three transcripts:1. Normal in reduced levels; 2. ex11 skips (frame shift) reduced levels; 3. use of cryptic splice site downstream to correct splice site, reduced levels. Western blot: Reduced ATP7A levels compared to normal and Mo-blo. Activity analysis demonstrate that only greatly reduced levels of normal sized, but nonfunctional, protein is made. Defective copper trafficking: ATP7A is at TGN at normal Cu levels, but still retains at TGN after Cu administration."	"animal model"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695507"	"0"	"97"	"X"	"77270159"	"77276578"	""	"0"	"01594"	"ATP7A_000303"	"g.((77268611_77270159)_(77276578_77284747)del)"	""	"{PMID:Cunliffe 2001:11386751}"	""	"del ex11-14"	"mouse model, inframe deletion, single transcript (2380-?_2889+?del)"	"animal model"	""	""	"0"	""	""	"g.(78013114_78014662)_(78021081_78029250)del"	""	"pathogenic (recessive)"	""
"0000695508"	"0"	"97"	"X"	"77276577"	"77276577"	"subst"	"0"	"01594"	"ATP7A_000176"	"g.(77276577G>A)"	""	"{PMID:Cecchi 1997:9147646}"	""	"IVS14+1G>A"	"mouse model (2889+1G>A), 2 transcripts: one normal, 2nd ex14 skips (in frame). mRNA levels are 44% of normal in heterozygotes."	"animal model"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695509"	"0"	"97"	"X"	"77284839"	"77284839"	"subst"	"0"	"01594"	"ATP7A_000304"	"g.(77284839G>A)"	""	"{PMID:Levinson 1997:9207785}"	""	"3074G>A (Ala998Thr)"	"mouse model (2992G>A (Ala998Thr))"	"animal model"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695510"	"0"	"97"	"X"	"77284840"	"77284840"	"subst"	"0"	"01594"	"ATP7A_000305"	"g.(77284840C>T)"	""	"J:133115 (The Jackson Laboratory)"	""	"3073C>T (Ala999Val) 6TMB/cation channel"	"Mouse model (2993C>T (Ala998Val))"	"animal model"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695511"	"0"	"97"	"X"	"77286920"	"77286920"	"subst"	"0"	"01594"	"ATP7A_000306"	"g.(77286920A>C)"	""	"{PMID:Cecchi 1997:9147646}, {PMID:Reed 1997:9147645}, {PMID:Kim 2007:17483305}"	""	"3189A>C (Lys1036Thr)"	"Mouse model. Defective localization of ATP7A to post-Golgi. Reduction in Cu delivery to the secretory pathway and constitutive trafficking of the ATP7A to the plasma membrane. Failed to abolish copper transport to tyrosinase. The hypertrafficking response was dependent on the catalytic phosphorylation site of ATP7A."	"animal model"	"yes"	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695512"	"0"	"97"	"X"	"77298927"	"77298927"	"subst"	"0"	"01594"	"ATP7A_000307"	"g.(77298927C>A)"	""	"{PMID:Cecchi 1997:9147646}, {PMID:Kim 2007:17483305}"	""	"4173C>A (Ala1364Asp)"	"Mouse model. mRNA levels are 22% of normal in heterozygotes. Defective localization of ATP7A to endoplasmic reticulum and impaired glycosylation. Abolished copper delivery to the secretory pathway"	"animal model"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695513"	"0"	"97"	"X"	"77301011"	"77301011"	"subst"	"0"	"01594"	"ATP7A_000308"	"g.(77301011T>C)"	""	"{PMID:Ohta 1997:9385451}, {PMID:Mori 1997:9166584}, {PMID:Murata 1997:9380433}, {PMID:Kodama 2005:16435190}, {PMID:Kim 2007:17483305}"	""	"Ser1381Pro"	"Mouse model. Defective localization of ATP7A to post-Golgi. Reduction in Cu delivery to the secretory pathway and constitutive trafficking of the ATP7A to the plasma membrane. Failed to abolish copper transport to tyrosinase."	"animal model"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695514"	"0"	"97"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000309"	"(g.(77301070_77301790)_(77303167_77303467)del)"	""	"{PMID:Mototani 2006:16338116}"	""	"1440 bp genomic deletion including IVS22 and part of exon 23, leading to splice defect. Predicted in 91 aminoacid deletion at C-terminal"	"mouse model (4200-?_?del1400?), reduced levels of transcript with Northern blot"	"animal model"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695515"	"0"	"97"	"X"	"0"	"0"	""	"0"	"01594"	"ATP7A_000278"	"g.?"	""	"{PMID:Mendelsohn 2006:16890543}, {PMID:Madsen 2008b:18316734}"	""	"IVS8-9A>T"	"Zebra fish model. Cryptic splice acceptor in intron8 inserting 7 bp leading to frameshift and PT at AA 674. Near complete loss of ATP7A"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695516"	"0"	"97"	"X"	"77287004"	"77287004"	"subst"	"0"	"01594"	"ATP7A_000310"	"g.77287004T>G"	""	"{PMID:Madsen 2008a:19008952}"	""	"T3182G (I1061S)"	"Zebra fish model. Significant depletion of the the full-length protein. Retains some transport function"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695517"	"0"	"97"	"X"	"77298279"	"77298279"	"subst"	"0"	"01594"	"ATP7A_000311"	"g.77298279T>G"	""	"{PMID:Madsen 2008b:18316734}"	""	"L1316R"	"Zebra fish model. Transcript: a 12-bp in-frame deletion at the 3_ end of exon 20, which removes 4 AA. Near complete loss of ATP7A"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695518"	"21"	"97"	"X"	"77244138"	"77244138"	"del"	"0"	"01594"	"ATP7A_000003"	"g.77244138del"	""	"Tümer 2011"	""	"521delA"	""	"Germline"	""	""	"0"	""	""	"g.77988642del"	""	"pathogenic (recessive)"	""
"0000695519"	"21"	"97"	"X"	"77244777"	"77244784"	"del"	"0"	"01594"	"ATP7A_000007"	"g.77244777_77244784del"	""	"Tümer 2011"	""	"659_666delTCTCAGTA"	""	"Germline"	""	""	"0"	""	""	"g.77989281_77989288del"	""	"pathogenic (recessive)"	""
"0000695520"	"21"	"97"	"X"	"77244811"	"77244811"	"del"	"0"	"01594"	"ATP7A_000008"	"g.77244811del"	""	"Tümer 2011"	""	"693delT"	""	"Germline"	""	""	"0"	""	""	"g.77989315del"	""	"pathogenic (recessive)"	""
"0000695521"	"21"	"97"	"X"	"77245307"	"77245310"	"del"	"0"	"01594"	"ATP7A_000012"	"g.77245307_77245310del"	""	"Tümer 2011"	""	"1189_1192delGGTG"	""	"Germline"	""	""	"0"	""	""	"g.77989811_77989814del"	""	"pathogenic (recessive)"	""
"0000695522"	"0"	"97"	"X"	"77264639"	"77264640"	"del"	"0"	"01594"	"ATP7A_000014"	"g.77264639_77264640del"	""	"Tümer 2011"	""	"1748_1749delAG"	""	"Germline"	""	""	"0"	""	""	"g.78009142_78009143del"	""	"pathogenic (recessive)"	""
"0000695523"	"1"	"97"	"X"	"77264747"	"77264747"	"dup"	"0"	"01594"	"ATP7A_000018"	"g.77264747dup"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009250dup"	""	"pathogenic (recessive)"	""
"0000695524"	"21"	"97"	"X"	"77268557"	"77268557"	"dup"	"0"	"01594"	"ATP7A_000028"	"g.77268557dup"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78013060dup"	""	"pathogenic (recessive)"	""
"0000695525"	"21"	"97"	"X"	"77284885"	"77284886"	"delins"	"0"	"01594"	"ATP7A_000034"	"g.77284885_77284886delinsTTAGTA"	""	"Tümer 2011"	""	"3055_3056delGGinsTTAGTA"	""	"Germline"	""	""	"0"	""	""	"g.78029388_78029389delinsTTAGTA"	""	"pathogenic (recessive)"	""
"0000695526"	"21"	"97"	"X"	"77284895"	"77284895"	"del"	"0"	"01594"	"ATP7A_000035"	"g.77284895del"	""	"Tümer 2011"	""	"3065delA"	""	"Germline"	""	""	"0"	""	""	"g.78029398del"	""	"pathogenic (recessive)"	""
"0000695527"	"21"	"97"	"X"	"77298866"	"77298867"	"dup"	"0"	"01594"	"ATP7A_000047"	"g.77298866_77298867dup"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78043368_78043369dup"	""	"pathogenic (recessive)"	""
"0000695528"	"21"	"97"	"X"	"77301010"	"77301010"	"del"	"0"	"01594"	"ATP7A_000050"	"g.77301010del"	""	"Tümer 2011"	""	"4167delA"	""	"Germline"	""	""	"0"	""	""	"g.78045513del"	""	"pathogenic (recessive)"	""
"0000695529"	"0"	"97"	"X"	"77301043"	"77301089"	"delins"	"0"	"01594"	"ATP7A_000052"	"g.77301043_77301089delinsTTCTGTAGTACAGAA"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78045546_78045592delinsTTCTGTAGTACAGAA"	""	"pathogenic (recessive)"	""
"0000695530"	"1"	"97"	"X"	"77244149"	"77244149"	"subst"	"0"	"01594"	"ATP7A_000056"	"g.77244149G>T"	""	"{PMID:Moller 2012:22264391}"	""	""	"Affected females in the family"	"Germline"	""	""	"0"	""	""	"g.77988653G>T"	""	"pathogenic (recessive)"	""
"0000695531"	"0"	"97"	"X"	"77245343"	"77245343"	"subst"	"0"	"01594"	"ATP7A_000060"	"g.77245343C>T"	""	"Tümer 2011"	""	""	""	"De novo"	""	""	"0"	""	""	"g.77989847C>T"	""	"pathogenic (recessive)"	""
"0000695532"	"0"	"97"	"X"	"77245343"	"77245343"	"subst"	"0"	"01594"	"ATP7A_000060"	"g.77245343C>T"	""	"Tümer 2011"	""	""	""	"De novo"	""	""	"0"	""	""	"g.77989847C>T"	""	"pathogenic (recessive)"	""
"0000695533"	"0"	"97"	"X"	"77258665"	"77258665"	"subst"	"0"	"01594"	"ATP7A_000063"	"g.77258665C>T"	""	"Tümer 2011"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78003168C>T"	""	"pathogenic (recessive)"	""
"0000695534"	"21"	"97"	"X"	"77264625"	"77264625"	"subst"	"0"	"01594"	"ATP7A_000064"	"g.77264625C>A"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009128C>A"	""	"pathogenic (recessive)"	""
"0000695535"	"21"	"97"	"X"	"77266736"	"77266736"	"subst"	"0"	"01594"	"ATP7A_000067"	"g.77266736C>T"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011239C>T"	""	"pathogenic (recessive)"	""
"0000695536"	"21"	"97"	"X"	"77267169"	"77267169"	"subst"	"0"	"01594"	"ATP7A_000072"	"g.77267169C>T"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011672C>T"	""	"pathogenic (recessive)"	""
"0000695537"	"1"	"97"	"X"	"77268390"	"77268390"	"subst"	"0"	"01594"	"ATP7A_000073"	"g.77268390G>A"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78012893G>A"	""	"pathogenic (recessive)"	""
"0000695538"	"0"	"97"	"X"	"77271270"	"77271270"	"subst"	"0"	"01594"	"ATP7A_000076"	"g.77271270G>T"	""	"Tümer 2011"	""	""	""	"De novo"	""	""	"0"	""	""	"g.78015773G>T"	""	"pathogenic (recessive)"	""
"0000695539"	"21"	"97"	"X"	"77266706"	"77266706"	"subst"	"0"	"01594"	"ATP7A_000090"	"g.77266706G>C"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011209G>C"	""	"pathogenic (recessive)"	""
"0000695540"	"0"	"97"	"X"	"77266957"	"77266957"	"subst"	"0"	"01594"	"ATP7A_000092"	"g.77266957C>T"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011460C>T"	""	"pathogenic (recessive)"	""
"0000695541"	"21"	"97"	"X"	"77266995"	"77266995"	"subst"	"0"	"01594"	"ATP7A_000093"	"g.77266995G>C"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011498G>C"	""	"pathogenic (recessive)"	""
"0000695542"	"21"	"97"	"X"	"77266750"	"77266750"	"subst"	"0"	"01594"	"ATP7A_000154"	"g.77266750G>C"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011253G>C"	""	"pathogenic (recessive)"	""
"0000695543"	"0"	"97"	"X"	"77266754"	"77266754"	"subst"	"0"	"01594"	"ATP7A_000159"	"g.77266754G>C"	""	"Tümer 2011"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011257G>C"	""	"pathogenic (recessive)"	""
"0000695544"	"21"	"97"	"X"	"77266754"	"77266754"	"subst"	"0"	"01594"	"ATP7A_000159"	"g.77266754G>C"	""	"{PMID:Moller 2012:22264391}, {PMID:Skjørringe 2011:21494555}"	""	"1946+5G>A"	"Ex8 skips, frame shift"	"Germline"	""	""	"0"	""	""	"g.78011257G>C"	""	"pathogenic (recessive)"	""
"0000695545"	"0"	"35"	"X"	"77243944"	"77243944"	"subst"	"0.0101625"	"01594"	"ATP7A_000281"	"g.77243944G>A"	""	"{PMID:Tarpey 2009:19377476}"	""	"K109K"	"recurrent, found 2 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	"Germline"	""	""	"0"	""	""	"g.77988448G>A"	""	"likely benign"	""
"0000695546"	"0"	"55"	"X"	"77245127"	"77245127"	"subst"	"0.000633397"	"01594"	"ATP7A_000312"	"g.77245127G>A"	""	"{PMID:Tarpey 2009:19377476}"	""	"A337T"	"found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	"Germline"	""	""	"0"	""	""	"g.77989631G>A"	""	"VUS"	""
"0000695547"	"0"	"55"	"X"	"77268502"	"77268502"	"subst"	"0.237103"	"01594"	"ATP7A_000289"	"g.77268502G>C"	""	"{PMID:Tarpey 2009:19377476}"	""	"V767L"	"recurrent, found 30 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	"Germline"	""	""	"0"	""	""	"g.78013005G>C"	""	"VUS"	""
"0000695548"	"0"	"97"	"X"	"77298291"	"77298291"	"subst"	"0"	"01594"	"ATP7A_000193"	"g.77298291G>A"	""	"{PMID:Gu 2012:22361452}"	""	"IVS20+5G>A"	""	"Germline"	""	""	"0"	""	""	"g.78042793G>A"	""	"pathogenic (recessive)"	""
"0000695549"	"0"	"97"	"X"	"77268487"	"77268488"	"del"	"0"	"01594"	"ATP7A_000025"	"g.77268487_77268488del"	""	"{PMID:Gu 2012:22361452}"	""	"2429-2430delTT (S761FS770X)"	""	"Germline"	""	""	"0"	""	""	"g.78012990_78012991del"	""	"pathogenic (recessive)"	""
"0000695550"	"0"	"97"	"X"	"77268546"	"77268547"	"ins"	"0"	"01594"	"ATP7A_000313"	"g.77268546_77268547insA"	""	"{PMID:Gu 2012:22361452}"	""	"2491insA (F781FS826X)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000695551"	"0"	"97"	"X"	"77267179"	"77267183"	"dup"	"0"	"01594"	"ATP7A_000314"	"g.77267179_77267183dup"	""	"{PMID:Gu 2012:22361452}"	""	"IVS9+12insAATTG"	""	"Germline"	""	""	"0"	""	""	"g.78011682_78011686dup"	""	"pathogenic (recessive)"	""
"0000695552"	"0"	"97"	"X"	"77245447"	"77245447"	"del"	"0"	"01594"	"ATP7A_000315"	"g.77245447del"	""	"{PMID:Gu 2012:22361452}"	""	"1474delC"	""	"Germline"	""	""	"0"	""	""	"g.77989951del"	""	"pathogenic (recessive)"	""
"0000695553"	"0"	"97"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Moller 2012:22264391}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"pathogenic (recessive)"	""
"0000695554"	"0"	"97"	"X"	"77268586"	"77268586"	"subst"	"0"	"01594"	"ATP7A_000074"	"g.77268586C>T"	""	"{PMID:Moller 2012:22264391}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78013089C>T"	""	"pathogenic (recessive)"	""
"0000695555"	"0"	"97"	"X"	"77243740"	"77245455"	"dup"	"0"	"01594"	"ATP7A_000316"	"g.(77227262_77243740)_(77245455_77253974)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.121-?_1336+?dup"	"wild-type; r.121_1336dup (ex3-4, frame shift); r.611_1336dup (ex5, in-frame)"	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(77989959_77998477)dup"	""	"pathogenic (recessive)"	""
"0000695556"	"0"	"97"	"X"	"77253974"	"77258736"	"dup"	"0"	"01594"	"ATP7A_000317"	"g.(77245455_77253974)_(77258736_77264600)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1337-?_1707+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(77989959_77998477)_(78003239_78009103)dup"	""	"pathogenic (recessive)"	""
"0000695557"	"0"	"97"	"X"	"77258570"	"77264760"	"dup"	"0"	"01594"	"ATP7A_000318"	"g.(77254183_77258570)_((77264761_77266672)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1544-?_1869+?dup"	"wild type; r.1544_1869dup (ex6-7, frame shift); r. 1544_1707dup (ex6, frame shift)"	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_((78009264_78011175)dup"	""	"pathogenic (recessive)"	""
"0000695558"	"0"	"97"	"X"	"77275741"	"77276578"	"dup"	"0"	"01594"	"ATP7A_000319"	"g.(77271380_77275741)_(77276578_77284747)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.2627-?_2916+?dup"	"wild type; r.2627_2916dup (ex13-14, frame shift); r.2782_2916dup (ex14, in-frame)"	"Germline"	""	""	"0"	""	""	"g.(78015883_78020244)_(78021081_78029250)dup"	""	"pathogenic (recessive)"	""
"0000695559"	"0"	"97"	"X"	"77286901"	"77289320"	"dup"	"0"	"01594"	"ATP7A_000320"	"g.(77284946_77286901)_(77289320_77294333)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.3112-?_3511+?dup"	"wild type; r.3112_3511dup (ex16-17, frame shift); r.3112_3294 (ex16, in-frame)"	"Germline"	""	""	"0"	""	""	"g.(78029449_78031403)_(78033822_78038835)dup"	""	"pathogenic (recessive)"	""
"0000695560"	"0"	"97"	"X"	"77258570"	"77264760"	"dup"	"0"	"01594"	"ATP7A_000318"	"g.(77254183_77258570)_((77264761_77266672)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1544-?_1869+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_((78009264_78011175)dup"	""	"pathogenic (recessive)"	""
"0000695561"	"0"	"97"	"X"	"77243740"	"77254183"	"dup"	"0"	"01594"	"ATP7A_000202"	"g.(77227262_77243740)_(77254183_77258570)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.121-?_1543+?dup"	"wild type; r.121_1543dup (ex3-5, frame shift); r.1337_1543dup (ex5, in-frame)"	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(77998686_78003073)dup"	""	"pathogenic (recessive)"	""
"0000695562"	"0"	"97"	"X"	"77253975"	"77264760"	"dup"	"0"	"01594"	"ATP7A_000321"	"g.(77245455_77253974)_((77264761_77266672)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1337-?_1869+?dup"	"r.1337_1869dup (frame shift); r.= (wild-type)"	"Germline"	""	""	"0"	""	""	"g.(77989959_77998477)_((78009264_78011175)dup"	""	"pathogenic (recessive)"	""
"0000695563"	"0"	"97"	"X"	"77243740"	"77275897"	"dup"	"0"	"01594"	"ATP7A_000322"	"g.(77227262_77243740)_(77275897_77276442)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.121-?_2781+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(78020400_78020945)dup"	""	"pathogenic (recessive)"	""
"0000695564"	"0"	"97"	"X"	"77243740"	"77289320"	"dup"	"0"	"01594"	"ATP7A_000323"	"g.(77227262_77243740)_(77289320_77294333)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.121-?_3511+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(77971765_77988244)_(78033822_78038835)dup"	""	"pathogenic (recessive)"	""
"0000695565"	"0"	"97"	"X"	"77258570"	"77284946"	"dup"	"0"	"01594"	"ATP7A_000324"	"g.(77254183_77258570)_(77284946_77286901)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1544-?_3111+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(77998686_78003073)_(78029449_78031403)dup"	""	"pathogenic (recessive)"	""
"0000695566"	"0"	"97"	"X"	"77264600"	"77268611"	"dup"	"0"	"01594"	"ATP7A_000325"	"g.(77258736_77264600)_(77268611_77270159)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1708-?_2406+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(78003239_78009103)_(78013114_78014662)dup"	""	"pathogenic (recessive)"	""
"0000695567"	"0"	"97"	"X"	"77264600"	"77271380"	"dup"	"0"	"01594"	"ATP7A_000326"	"g.(77258736_77264600)_(77271380_77275741)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1708-?_2626+?dup"	"wild type; r.1708_2626dup (ex7-12, frame shift); r.1870_2406dup (ex8-10, in-frame)"	"Germline"	""	""	"0"	""	""	"g.(78003239_78009103)_(78015883_78020244)dup"	""	"pathogenic (recessive)"	""
"0000695568"	"0"	"97"	"X"	"77264600"	"77271380"	"dup"	"0"	"01594"	"ATP7A_000326"	"g.(77258736_77264600)_(77271380_77275741)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1708-?_2626+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(78003239_78009103)_(78015883_78020244)dup"	""	"pathogenic (recessive)"	""
"0000695569"	"0"	"97"	"X"	"77264600"	"77276578"	"dup"	"0"	"01594"	"ATP7A_000327"	"g.(77258736_77264600)_(77276578_77284747)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1708-?_2916+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(78003239_78009103)_(78021081_78029250)dup"	""	"pathogenic (recessive)"	""
"0000695570"	"0"	"97"	"X"	"77266672"	"77271380"	"dup"	"0"	"01594"	"ATP7A_000204"	"g.(77264761_77266672)_(77271380_77275741)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1870-?_2626+?dup"	"wild type; r.1870_2626dup (ex8-12, frame shift); r.1870_2406dup (ex8-10, in-frame); r.2173_2406dup (ex10, in-frame)"	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78015883_78020244)dup"	""	"pathogenic (recessive)"	""
"0000695571"	"0"	"97"	"X"	"77266672"	"77271380"	"dup"	"0"	"01594"	"ATP7A_000204"	"g.(77264761_77266672)_(77271380_77275741)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1870-?_2626+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78015883_78020244)dup"	""	"pathogenic (recessive)"	""
"0000695572"	"0"	"97"	"X"	"77266672"	"77276578"	"dup"	"0"	"01594"	"ATP7A_000328"	"g.(77264761_77266672)_(77276578_77284747)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1870-?_2916+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78021081_78029250)dup"	""	"pathogenic (recessive)"	""
"0000695573"	"0"	"97"	"X"	"77266672"	"77284946"	"dup"	"0"	"01594"	"ATP7A_000329"	"g.(77264761_77266672)_(77284946_77286901)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1870-?_3111+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78029449_78031403)dup"	""	"pathogenic (recessive)"	""
"0000695574"	"0"	"97"	"X"	"77266672"	"77289320"	"dup"	"0"	"01594"	"ATP7A_000205"	"g.(77264761_77266672)_(77289320_77294333)dup"	""	"{PMID:Mogensen 2011:22074552}"	""	"c.1870-?_3511+?dup"	""	"Germline"	""	""	"0"	""	""	"g.(78009264_78011175)_(78033822_78038835)dup"	""	"pathogenic (recessive)"	""
"0000695575"	"0"	"55"	"X"	"77266686"	"77266686"	"subst"	"0"	"01594"	"ATP7A_000330"	"g.77266686A>T"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011189A>T"	""	"VUS"	""
"0000695576"	"0"	"55"	"X"	"77266701"	"77266701"	"subst"	"0"	"01594"	"ATP7A_000331"	"g.77266701A>G"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011204A>G"	""	"VUS"	""
"0000695577"	"0"	"55"	"X"	"77266957"	"77266957"	"subst"	"0"	"01594"	"ATP7A_000332"	"g.77266957C>A"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011460C>A"	""	"VUS"	""
"0000695578"	"0"	"55"	"X"	"77266970"	"77266970"	"subst"	"0"	"01594"	"ATP7A_000333"	"g.77266970T>A"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78011473T>A"	""	"VUS"	""
"0000695579"	"0"	"55"	"X"	"77268386"	"77268386"	"subst"	"0"	"01594"	"ATP7A_000334"	"g.77268386G>A"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78012889G>A"	""	"VUS"	""
"0000695580"	"0"	"55"	"X"	"77268484"	"77268484"	"subst"	"0"	"01594"	"ATP7A_000335"	"g.77268484T>C"	""	"{PMID:Gourdon 2011:21716286}"	""	"2281C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000695581"	"0"	"55"	"X"	"77270192"	"77270192"	"subst"	"0"	"01594"	"ATP7A_000336"	"g.77270192T>C"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78014695T>C"	""	"VUS"	""
"0000695582"	"0"	"55"	"X"	"77284835"	"77284835"	"subst"	"0"	"01594"	"ATP7A_000337"	"g.77284835G>T"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78029338G>T"	""	"VUS"	""
"0000695583"	"0"	"55"	"X"	"77298183"	"77298183"	"subst"	"0"	"01594"	"ATP7A_000338"	"g.77298183A>G"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78042685A>G"	""	"VUS"	""
"0000695584"	"0"	"55"	"X"	"77298186"	"77298186"	"subst"	"0"	"01594"	"ATP7A_000339"	"g.77298186G>A"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78042688G>A"	""	"VUS"	""
"0000695585"	"0"	"55"	"X"	"77298195"	"77298195"	"subst"	"0"	"01594"	"ATP7A_000340"	"g.77298195A>G"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78042697A>G"	""	"VUS"	""
"0000695586"	"0"	"55"	"X"	"77298204"	"77298204"	"subst"	"0"	"01594"	"ATP7A_000341"	"g.77298204C>A"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78042706C>A"	""	"VUS"	""
"0000695587"	"0"	"55"	"X"	"77298926"	"77298926"	"subst"	"0"	"01594"	"ATP7A_000342"	"g.77298926G>C"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78043428G>C"	""	"VUS"	""
"0000695588"	"0"	"55"	"X"	"77298927"	"77298927"	"subst"	"0"	"01594"	"ATP7A_000343"	"g.77298927C>T"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78043429C>T"	""	"VUS"	""
"0000695589"	"0"	"55"	"X"	"77301802"	"77301802"	"subst"	"0"	"01594"	"ATP7A_000344"	"g.77301802C>G"	""	"{PMID:Gourdon 2011:21716286}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78046305C>G"	""	"VUS"	""
"0000695590"	"0"	"77"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Das 1994:7977350}"	""	"G2324>A"	"normal levels with NB"	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"likely pathogenic (recessive)"	""
"0000695591"	"1"	"77"	"X"	"77268382"	"77268382"	"subst"	"0"	"01594"	"ATP7A_000100"	"g.77268382G>A"	""	"{PMID:Das 1994:7977350}"	""	"G2324>A"	"normal levels with NB"	"Germline"	""	""	"0"	""	""	"g.78012885G>A"	""	"likely pathogenic (recessive)"	""
"0000695592"	"21"	"77"	"X"	"77266688"	"77266688"	"subst"	"0"	"01594"	"ATP7A_000089"	"g.77266688G>C"	""	"Tümer 2011"	""	"Ala629Pro (GCT>CCT)"	""	"Germline"	""	""	"0"	""	""	"g.78011191G>C"	""	"likely pathogenic (recessive)"	""
"0000695593"	"0"	"77"	"X"	"77266750"	"77266750"	"subst"	"0"	"01594"	"ATP7A_000155"	"g.77266750G>T"	""	"Tümer 2011"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.78011253G>T"	""	"likely pathogenic (recessive)"	""
"0000695594"	"0"	"50"	"X"	"77278984"	"77278984"	"subst"	"0"	"03797"	"ATP7A_000346"	"g.77278984T>G"	""	"Yasmeen S."	""	""	""	"Germline"	""	""	"0"	""	""	"g.78023487T>G"	""	"VUS"	""
"0000695595"	"0"	"50"	"X"	"77287843"	"77287843"	"subst"	"0"	"03797"	"ATP7A_000347"	"g.77287843C>G"	""	"Yasmeen S."	""	""	""	"Germline"	""	""	"0"	""	""	"g.78032345C>G"	""	"VUS"	""
"0000695596"	"0"	"50"	"X"	"77269726"	"77269726"	"subst"	"0"	"03797"	"ATP7A_000345"	"g.77269726A>G"	""	"Yasmeen S."	""	"c.2406+1117A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000729211"	"0"	"50"	"X"	"77244791"	"77244791"	"subst"	"3.92912E-5"	"02329"	"ATP7A_000373"	"g.77244791A>G"	""	""	""	"ATP7A(NM_000052.6):c.673A>G (p.M225V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729212"	"0"	"50"	"X"	"77245079"	"77245079"	"subst"	"0"	"02329"	"PGAM4_000005"	"g.77245079T>C"	""	""	""	"ATP7A(NM_000052.6):c.961T>C (p.Y321H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729213"	"0"	"50"	"X"	"77245190"	"77245190"	"subst"	"1.12064E-5"	"02327"	"PGAM4_000047"	"g.77245190C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729214"	"0"	"50"	"X"	"77245316"	"77245316"	"subst"	"0"	"02327"	"PGAM4_000048"	"g.77245316T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729215"	"0"	"30"	"X"	"77264640"	"77264640"	"subst"	"1.11888E-5"	"01943"	"PGAM4_000049"	"g.77264640G>A"	""	""	""	"ATP7A(NM_000052.6):c.1749G>A (p.E583=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000729216"	"0"	"30"	"X"	"77264679"	"77264679"	"subst"	"2.23721E-5"	"01943"	"PGAM4_000050"	"g.77264679C>T"	""	""	""	"ATP7A(NM_000052.6):c.1788C>T (p.S596=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000729217"	"0"	"50"	"X"	"77268454"	"77268454"	"subst"	"1.67821E-5"	"02327"	"PGAM4_000051"	"g.77268454G>A"	""	""	""	"ATP7A(NM_000052.7):c.2251G>A (p.V751M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729218"	"0"	"50"	"X"	"77276484"	"77276484"	"subst"	"0"	"02329"	"PGAM4_000026"	"g.77276484G>A"	""	""	""	"ATP7A(NM_000052.6):c.2824G>A (p.V942I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729219"	"0"	"50"	"X"	"77301922"	"77301922"	"subst"	"0"	"02327"	"PGAM4_000052"	"g.77301922T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000810678"	"0"	"30"	"X"	"77224682"	"77224682"	"subst"	"0"	"01943"	"PGAM4_000053"	"g.77224682A>T"	""	""	""	"PGAM4(NM_001029891.2):c.454T>A (p.S152T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000810679"	"0"	"50"	"X"	"77224964"	"77224964"	"subst"	"0"	"01943"	"PGAM4_000054"	"g.77224964A>T"	""	""	""	"PGAM4(NM_001029891.2):c.172T>A (p.S58T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000810680"	"0"	"70"	"X"	"77267176"	"77267176"	"subst"	"0"	"02329"	"ATP7A_000164"	"g.77267176G>C"	""	""	""	"ATP7A(NM_000052.7):c.2172+5G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000810681"	"0"	"30"	"X"	"77301894"	"77301894"	"subst"	"0"	"01943"	"PGAM4_000055"	"g.77301894T>A"	""	""	""	"ATP7A(NM_000052.6):c.4330T>A (p.S1444T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000823310"	"0"	"70"	"X"	"77266973"	"77266976"	"del"	"0"	"02494"	"ATP7A_000422"	"g.77266973_77266976del"	""	""	""	""	""	"De novo"	""	""	"0"	""	""	"g.78011476_78011479del"	""	"likely pathogenic (recessive)"	""
"0000841162"	"21"	"90"	"X"	"77264597"	"77264597"	"subst"	"0"	"00006"	"ATP7A_000417"	"g.77264597A>G"	""	"{PMID:Froukh 2020:32056211}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78009100A>G"	""	"pathogenic (recessive)"	""
"0000856805"	"0"	"30"	"X"	"77224422"	"77224422"	"subst"	"2.79987E-5"	"01943"	"PGAM4_000056"	"g.77224422C>T"	""	""	""	"PGAM4(NM_001029891.2):c.714G>A (p.T238=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856806"	"0"	"30"	"X"	"77244902"	"77244902"	"subst"	"0"	"01943"	"PGAM4_000057"	"g.77244902T>A"	""	""	""	"ATP7A(NM_000052.6):c.784T>A (p.S262T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856807"	"0"	"50"	"X"	"77245118"	"77245118"	"subst"	"8.96786E-5"	"01943"	"PGAM4_000058"	"g.77245118G>A"	""	""	""	"ATP7A(NM_000052.6):c.1000G>A (p.A334T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856808"	"0"	"30"	"X"	"77266953"	"77266953"	"subst"	"3.92216E-5"	"01943"	"ATP7A_000387"	"g.77266953C>T"	""	""	""	"ATP7A(NM_000052.6):c.1954C>T (p.R652W), ATP7A(NM_000052.7):c.1954C>T (p.R652W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856809"	"0"	"30"	"X"	"77298212"	"77298212"	"subst"	"0.000979005"	"01943"	"PGAM4_000064"	"g.77298212A>G"	""	""	""	"ATP7A(NM_000052.6):c.3931A>G (p.M1311V), ATP7A(NM_000052.7):c.3931A>G (p.M1311V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867573"	"0"	"50"	"X"	"77227230"	"77227230"	"subst"	"0"	"01943"	"ATP7A_000364"	"g.77227230G>A"	""	""	""	"ATP7A(NM_000052.5):c.92G>A (p.(Gly31Glu)), ATP7A(NM_000052.6):c.92G>A (p.G31E), ATP7A(NM_000052.7):c.92G>A (p.G31E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000867574"	"0"	"70"	"X"	"77254004"	"77254004"	"subst"	"0"	"01804"	"PGAM4_000059"	"g.77254004C>T"	""	""	""	"ATP7A(NM_000052.5):c.1366C>T (p.(Gln456*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000867575"	"0"	"30"	"X"	"77264625"	"77264625"	"subst"	"3.35713E-5"	"01943"	"PGAM4_000060"	"g.77264625C>T"	""	""	""	"ATP7A(NM_000052.6):c.1734C>T (p.C578=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867576"	"0"	"50"	"X"	"77276490"	"77276490"	"subst"	"5.04238E-5"	"01943"	"PGAM4_000061"	"g.77276490T>C"	""	""	""	"ATP7A(NM_000052.6):c.2830T>C (p.F944L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000867577"	"0"	"30"	"X"	"77276563"	"77276563"	"subst"	"0.000719247"	"01943"	"ATP7A_000396"	"g.77276563A>G"	""	""	""	"ATP7A(NM_000052.6):c.2903A>G (p.E968G), ATP7A(NM_000052.7):c.2903A>G (p.E968G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867578"	"0"	"30"	"X"	"77286903"	"77286903"	"subst"	"0"	"01943"	"PGAM4_000062"	"g.77286903G>T"	""	""	""	"ATP7A(NM_000052.6):c.3117G>T (p.K1039N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867579"	"0"	"50"	"X"	"77294378"	"77294378"	"subst"	"0"	"02325"	"PGAM4_000063"	"g.77294378G>A"	""	""	""	"ATP7A(NM_000052.7):c.3556G>A (p.E1186K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000881184"	"21"	"90"	"X"	"77268586"	"77268586"	"subst"	"0"	"02300"	"ATP7A_000074"	"g.77268586C>T"	""	"{PMID:Marinakis 2021:34008892}"	""	""	"ACMG PVS1, PM1, PM2, PP3, PP5"	"Germline"	""	"rs72554645"	"0"	""	""	"g.78013089C>T"	""	"pathogenic (recessive)"	"ACMG"
"0000896373"	"0"	"30"	"X"	"77224946"	"77224946"	"subst"	"5.60215E-6"	"02325"	"PGAM4_000065"	"g.77224946T>A"	""	""	""	"ATP7A(NM_000052.7):c.-21-2172T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000896374"	"0"	"30"	"X"	"77245274"	"77245274"	"subst"	"0.000112005"	"02325"	"PGAM4_000066"	"g.77245274A>G"	""	""	""	"ATP7A(NM_000052.7):c.1156A>G (p.M386V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000896375"	"0"	"50"	"X"	"77254007"	"77254007"	"subst"	"0"	"02330"	"PGAM4_000067"	"g.77254007C>G"	""	""	""	"ATP7A(NM_000052.7):c.1369C>G (p.P457A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000896376"	"0"	"90"	"X"	"77258665"	"77258665"	"subst"	"0"	"02325"	"ATP7A_000063"	"g.77258665C>T"	""	""	""	"ATP7A(NM_000052.6):c.1639C>T (p.R547*), ATP7A(NM_000052.7):c.1639C>T (p.R547*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000896377"	"0"	"50"	"X"	"77266986"	"77266986"	"subst"	"0"	"02327"	"PGAM4_000068"	"g.77266986C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000896378"	"0"	"30"	"X"	"77266991"	"77266991"	"subst"	"0"	"02330"	"PGAM4_000069"	"g.77266991A>G"	""	""	""	"ATP7A(NM_000052.7):c.1992A>G (p.V664=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000896379"	"0"	"30"	"X"	"77286939"	"77286939"	"subst"	"0.00020143"	"02330"	"ATP7A_000399"	"g.77286939C>T"	""	""	""	"ATP7A(NM_000052.6):c.3153C>T (p.H1051=), ATP7A(NM_000052.7):c.3153C>T (p.H1051=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000922449"	"21"	"90"	"X"	"77298919"	"77298924"	"del"	"0"	"00006"	"ATP7A_000423"	"g.77298919_77298924del"	""	"{PMID:Deshwar 2023:36990084}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.78043421_78043426del"	""	"pathogenic (recessive)"	""
"0000922736"	"0"	"90"	"X"	"77271369"	"77271720"	"del"	"0"	"04419"	"ATP7A_000424"	"g.77271369_77271720del"	""	"{PMID:Bhat et al., 2020:32558428}"	""	""	"Novel deletion of 363 bases involving 3\'end of ATP7A plus segment of intron 12."	"Germline"	"yes"	""	"0"	""	""	"g.78015872_78016223del"	""	"pathogenic"	"ACMG"
"0000927422"	"0"	"50"	"X"	"77268390"	"77268390"	"subst"	"0"	"02329"	"PGAM4_000037"	"g.77268390G>C"	""	""	""	"ATP7A(NM_000052.6):c.2187G>C (p.W729C), ATP7A(NM_000052.7):c.2187G>C (p.W729C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000927423"	"0"	"50"	"X"	"77268454"	"77268454"	"subst"	"1.67821E-5"	"02325"	"PGAM4_000051"	"g.77268454G>A"	""	""	""	"ATP7A(NM_000052.7):c.2251G>A (p.V751M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000931467"	"0"	"30"	"X"	"77224504"	"77224504"	"subst"	"1.12013E-5"	"02325"	"PGAM4_000070"	"g.77224504G>A"	""	""	""	"ATP7A(NM_000052.7):c.-21-2614G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951799"	"0"	"50"	"X"	"77271282"	"77271282"	"subst"	"0.000134354"	"02325"	"PGAM4_000046"	"g.77271282C>T"	""	""	""	"ATP7A(NM_000052.6):c.2530C>T (p.R844C), ATP7A(NM_000052.7):c.2530C>T (p.R844C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000984866"	"0"	"30"	"X"	"77243819"	"77243819"	"subst"	"2.34311E-5"	"01804"	"PGAM4_000072"	"g.77243819G>A"	""	""	""	"ATP7A(NM_000052.7):c.202G>A (p.(Asp68Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000984867"	"0"	"30"	"X"	"77265276"	"77265276"	"subst"	"0"	"01804"	"PGAM4_000073"	"g.77265276G>A"	""	""	""	"ATP7A(NM_000052.7):c.1869+516G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001006977"	"0"	"50"	"X"	"77245178"	"77245178"	"subst"	"0"	"01804"	"PGAM4_000074"	"g.77245178A>T"	""	""	""	"ATP7A(NM_000052.5):c.1060A>T (p.(Thr354Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006978"	"0"	"50"	"X"	"77245338"	"77245338"	"subst"	"0"	"01804"	"PGAM4_000075"	"g.77245338C>T"	""	""	""	"ATP7A(NM_000052.5):c.1220C>T (p.(Ser407Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006979"	"0"	"50"	"X"	"77268454"	"77268454"	"subst"	"1.67821E-5"	"02330"	"PGAM4_000051"	"g.77268454G>A"	""	""	""	"ATP7A(NM_000052.7):c.2251G>A (p.V751M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006980"	"0"	"50"	"X"	"77298250"	"77298250"	"subst"	"0"	"01804"	"PGAM4_000076"	"g.77298250T>A"	""	""	""	"ATP7A(NM_000052.5):c.3969T>A (p.(Asp1323Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006981"	"0"	"30"	"X"	"77301888"	"77301888"	"subst"	"5.59509E-6"	"01804"	"PGAM4_000077"	"g.77301888G>A"	""	""	""	"ATP7A(NM_000052.5):c.4324G>A (p.(Asp1442Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001044517"	"0"	"50"	"X"	"77244861"	"77244861"	"subst"	"0"	"01804"	"PGAM4_000078"	"g.77244861G>C"	""	""	""	"ATP7A(NM_000052.7):c.743G>C (p.(Gly248Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044518"	"0"	"50"	"X"	"77275780"	"77275780"	"subst"	"0"	"01804"	"ATP7A_000394"	"g.77275780T>C"	""	""	""	"ATP7A(NM_000052.6):c.2666T>C (p.V889A), ATP7A(NM_000052.7):c.2666T>C (p.(Val889Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044519"	"0"	"30"	"X"	"77294933"	"77294933"	"subst"	"0"	"01804"	"PGAM4_000079"	"g.77294933C>T"	""	""	""	"ATP7A(NM_000052.7):c.3658+453C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001044520"	"0"	"10"	"X"	"77298212"	"77298212"	"subst"	"0.000979005"	"02330"	"PGAM4_000064"	"g.77298212A>G"	""	""	""	"ATP7A(NM_000052.6):c.3931A>G (p.M1311V), ATP7A(NM_000052.7):c.3931A>G (p.M1311V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001057372"	"0"	"30"	"X"	"77166340"	"77166340"	"subst"	"0"	"01804"	"PGAM4_000021"	"g.77166340C>G"	""	""	""	"ATP7A(NM_000052.6):c.-22+8C>G, ATP7A(NM_000052.7):c.-22+8C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001057373"	"0"	"50"	"X"	"77244137"	"77244137"	"subst"	"0"	"01804"	"PGAM4_000080"	"g.77244137A>C"	""	""	""	"ATP7A(NM_000052.7):c.520A>C (p.(Lys174Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001057374"	"0"	"50"	"X"	"77258614"	"77258614"	"subst"	"0"	"01804"	"PGAM4_000081"	"g.77258614G>A"	""	""	""	"ATP7A(NM_000052.7):c.1588G>A (p.(Val530Ile))"	"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 ATP7A
## Count = 658
"{{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}}"	"{{VariantOnTranscript/Protein/Domain}}"
"0000001297"	"00025270"	"00"	"657"	"0"	"661"	"0"	"c.657_661del"	"r.(?)"	"p.(Ile220Serfs*9)"	""	""
"0000001298"	"00025270"	"00"	"659"	"0"	"663"	"0"	"c.659_663del"	"r.(?)"	"p.(Ile220Serfs*9)"	""	""
"0000001299"	"00025270"	"00"	"1948"	"0"	"1949"	"0"	"c.1948_1949insAAGAT"	"r.(?)"	"p.(Trp650Ter)"	""	""
"0000001300"	"00025270"	"00"	"499"	"0"	"499"	"0"	"c.499C>T"	"r.(?)"	"p.(Gln167*)"	""	""
"0000001301"	"00025270"	"00"	"1946"	"2"	"1946"	"2"	"c.1946+2T>C"	"r.spl?"	"p.?"	""	""
"0000001302"	"00025270"	"00"	"4006"	"-2"	"4006"	"-2"	"c.4006-2A>G"	"r.spl?"	"p.?"	""	""
"0000002030"	"00025270"	"00"	"3112"	"-62"	"3112"	"-62"	"c.3112-62del"	"r.(=)"	"p.(=)"	""	""
"0000003064"	"00025270"	"00"	"3112"	"-68"	"3112"	"-68"	"c.3112-68del"	"r.(=)"	"p.(=)"	""	""
"0000007197"	"00025270"	"00"	"-22"	"117"	"-22"	"117"	"c.-22+117T>C"	"r.(=)"	"p.(=)"	""	""
"0000007198"	"00025270"	"00"	"3659"	"-42"	"3659"	"-42"	"c.3659-42G>C"	"r.(=)"	"p.(=)"	""	""
"0000007199"	"00025270"	"00"	"4048"	"0"	"4048"	"0"	"c.4048G>A"	"r.(?)"	"p.(Glu1350Lys)"	""	""
"0000009293"	"00025270"	"00"	"-22"	"117"	"-22"	"117"	"c.-22+117T>C"	"r.(=)"	"p.(=)"	""	""
"0000009294"	"00025270"	"00"	"3112"	"-62"	"3112"	"-62"	"c.3112-62del"	"r.(=)"	"p.(=)"	""	""
"0000009295"	"00025270"	"00"	"3659"	"-42"	"3659"	"-42"	"c.3659-42G>C"	"r.(=)"	"p.(=)"	""	""
"0000009296"	"00025270"	"00"	"4048"	"0"	"4048"	"0"	"c.4048G>A"	"r.(?)"	"p.(Glu1350Lys)"	""	""
"0000011045"	"00025270"	"00"	"1708"	"-85"	"1708"	"-85"	"c.1708-85del"	"r.(=)"	"p.(=)"	""	""
"0000011046"	"00025270"	"00"	"2173"	"-289"	"2173"	"-289"	"c.2173-289del"	"r.(=)"	"p.(=)"	""	""
"0000011047"	"00025270"	"00"	"3112"	"-68"	"3112"	"-68"	"c.3112-68del"	"r.(=)"	"p.(=)"	""	""
"0000062034"	"00025270"	"10"	"3659"	"-42"	"3659"	"-42"	"c.3659-42G>C"	"r.(=)"	"p.(=)"	""	""
"0000062035"	"00025270"	"10"	"4048"	"0"	"4048"	"0"	"c.4048G>A"	"r.(?)"	"p.(Glu1350Lys)"	""	""
"0000062036"	"00025270"	"50"	"4226"	"66"	"4226"	"66"	"c.4226+66G>A"	"r.(=)"	"p.(=)"	""	""
"0000247794"	"00025270"	"50"	"1453"	"0"	"1453"	"0"	"c.1453A>G"	"r.(?)"	"p.(Lys485Glu)"	""	""
"0000248784"	"00025270"	"10"	"565"	"0"	"565"	"0"	"c.565A>G"	"r.(?)"	"p.(Ile189Val)"	""	""
"0000248797"	"00025270"	"10"	"1516"	"0"	"1516"	"0"	"c.1516A>G"	"r.(?)"	"p.(Ile506Val)"	""	""
"0000249420"	"00025270"	"30"	"2903"	"0"	"2903"	"0"	"c.2903A>G"	"r.(?)"	"p.(Glu968Gly)"	""	""
"0000252796"	"00025270"	"50"	"2279"	"0"	"2279"	"0"	"c.2279A>G"	"r.(?)"	"p.(Tyr760Cys)"	""	""
"0000253505"	"00025270"	"10"	"1299"	"0"	"1299"	"0"	"c.1299A>T"	"r.(?)"	"p.(Gly433=)"	""	""
"0000253700"	"00025270"	"10"	"1128"	"0"	"1128"	"0"	"c.1128A>C"	"r.(?)"	"p.(Thr376=)"	""	""
"0000253952"	"00025270"	"10"	"1870"	"-25"	"1870"	"-25"	"c.1870-25A>C"	"r.(=)"	"p.(=)"	""	""
"0000253953"	"00025270"	"10"	"4226"	"48"	"4226"	"48"	"c.4226+48A>G"	"r.(=)"	"p.(=)"	""	""
"0000254512"	"00025270"	"30"	"637"	"0"	"637"	"0"	"c.637A>G"	"r.(?)"	"p.(Ile213Val)"	""	""
"0000254555"	"00025270"	"30"	"1555"	"0"	"1555"	"0"	"c.1555A>G"	"r.(?)"	"p.(Ile519Val)"	""	""
"0000254755"	"00025270"	"30"	"3589"	"0"	"3589"	"0"	"c.3589A>G"	"r.(?)"	"p.(Asn1197Asp)"	""	""
"0000256081"	"00025270"	"50"	"1303"	"0"	"1303"	"0"	"c.1303A>G"	"r.(?)"	"p.(Ile435Val)"	""	""
"0000256561"	"00025270"	"30"	"145"	"0"	"145"	"0"	"c.145A>G"	"r.(?)"	"p.(Thr49Ala)"	""	""
"0000258460"	"00025270"	"50"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(?)"	"p.(Arg652Trp)"	""	""
"0000258461"	"00025270"	"10"	"2299"	"0"	"2299"	"0"	"c.2299G>C"	"r.(?)"	"p.(Val767Leu)"	""	""
"0000258462"	"00025270"	"10"	"327"	"0"	"327"	"0"	"c.327G>A"	"r.(?)"	"p.(Lys109=)"	""	""
"0000258463"	"00025270"	"50"	"3632"	"0"	"3632"	"0"	"c.3632G>A"	"r.(?)"	"p.(Arg1211Gln)"	""	""
"0000258464"	"00025270"	"10"	"4048"	"0"	"4048"	"0"	"c.4048G>A"	"r.(?)"	"p.(Glu1350Lys)"	""	""
"0000258806"	"00025270"	"10"	"2299"	"0"	"2299"	"0"	"c.2299G>C"	"r.(?)"	"p.(Val767Leu)"	""	""
"0000258807"	"00025270"	"10"	"4048"	"0"	"4048"	"0"	"c.4048G>A"	"r.(?)"	"p.(Glu1350Lys)"	""	""
"0000260252"	"00025270"	"10"	"2299"	"0"	"2299"	"0"	"c.2299G>C"	"r.(?)"	"p.(Val767Leu)"	""	""
"0000260253"	"00025270"	"10"	"4048"	"0"	"4048"	"0"	"c.4048G>A"	"r.(?)"	"p.(Glu1350Lys)"	""	""
"0000260254"	"00025270"	"50"	"553"	"0"	"553"	"0"	"c.553T>C"	"r.(?)"	"p.(Cys185Arg)"	""	""
"0000261217"	"00025270"	"10"	"1955"	"0"	"1955"	"0"	"c.1955G>A"	"r.(?)"	"p.(Arg652Gln)"	""	""
"0000263322"	"00025270"	"90"	"1139"	"0"	"1140"	"0"	"c.1139_1140del"	"r.(?)"	"p.(Val380AspfsTer4)"	""	""
"0000263323"	"00025270"	"90"	"1145"	"0"	"1145"	"0"	"c.1145dup"	"r.(?)"	"p.(Asn382LysfsTer3)"	""	""
"0000263324"	"00025270"	"30"	"1270"	"0"	"1270"	"0"	"c.1270C>T"	"r.(?)"	"p.(Leu424=)"	""	""
"0000263325"	"00025270"	"30"	"1602"	"0"	"1602"	"0"	"c.1602T>C"	"r.(?)"	"p.(Pro534=)"	""	""
"0000263326"	"00025270"	"90"	"1639"	"0"	"1639"	"0"	"c.1639C>T"	"r.(?)"	"p.(Arg547Ter)"	""	""
"0000263327"	"00025270"	"90"	"1669"	"0"	"1669"	"0"	"c.1669G>T"	"r.(?)"	"p.(Glu557Ter)"	""	""
"0000263328"	"00025270"	"70"	"1946"	"5"	"1946"	"5"	"c.1946+5G>C"	"r.spl?"	"p.?"	""	""
"0000263329"	"00025270"	"90"	"1947"	"-6"	"1947"	"-6"	"c.1947-6T>G"	"r.(=)"	"p.(=)"	""	""
"0000263330"	"00025270"	"90"	"2071"	"0"	"2071"	"0"	"c.2071G>T"	"r.(?)"	"p.(Glu691Ter)"	""	""
"0000263331"	"00025270"	"10"	"2106"	"0"	"2106"	"0"	"c.2106G>T"	"r.(?)"	"p.(Glu702Asp)"	""	""
"0000263332"	"00025270"	"10"	"2108"	"0"	"2108"	"0"	"c.2108G>A"	"r.(?)"	"p.(Arg703His)"	""	""
"0000263333"	"00025270"	"50"	"214"	"0"	"214"	"0"	"c.214G>A"	"r.(?)"	"p.(Asp72Asn)"	""	""
"0000263334"	"00025270"	"90"	"2153"	"0"	"2153"	"0"	"c.2153T>G"	"r.(?)"	"p.(Leu718Ter)"	""	""
"0000263335"	"00025270"	"90"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	""	""
"0000263336"	"00025270"	"90"	"2187"	"0"	"2187"	"0"	"c.2187G>A"	"r.(?)"	"p.(Trp729Ter)"	""	""
"0000263337"	"00025270"	"90"	"2284"	"0"	"2285"	"0"	"c.2284_2285del"	"r.(?)"	"p.(Leu762AspfsTer9)"	""	""
"0000263338"	"00025270"	"10"	"2299"	"0"	"2299"	"0"	"c.2299G>C"	"r.(?)"	"p.(Val767Leu)"	""	""
"0000263339"	"00025270"	"90"	"2383"	"0"	"2383"	"0"	"c.2383C>T"	"r.(?)"	"p.(Arg795Ter)"	""	""
"0000263340"	"00025270"	"50"	"2406"	"0"	"2406"	"0"	"c.2406G>A"	"r.(?)"	"p.(Lys802=)"	""	""
"0000263341"	"00025270"	"90"	"2626"	"1"	"2626"	"1"	"c.2626+1G>A"	"r.spl?"	"p.?"	""	""
"0000263342"	"00025270"	"50"	"2666"	"0"	"2666"	"0"	"c.2666T>C"	"r.(?)"	"p.(Val889Ala)"	""	""
"0000263343"	"00025270"	"10"	"2782"	"-29"	"2782"	"-29"	"c.2782-29C>A"	"r.(=)"	"p.(=)"	""	""
"0000263344"	"00025270"	"90"	"2827"	"0"	"2830"	"0"	"c.2827_2830del"	"r.(?)"	"p.(Pro943LeufsTer15)"	""	""
"0000263345"	"00025270"	"90"	"2916"	"1"	"2916"	"1"	"c.2916+1G>A"	"r.spl?"	"p.?"	""	""
"0000263346"	"00025270"	"90"	"2922"	"0"	"2922"	"0"	"c.2922C>A"	"r.(?)"	"p.(Tyr974Ter)"	""	""
"0000263347"	"00025270"	"90"	"2938"	"0"	"2938"	"0"	"c.2938C>T"	"r.(?)"	"p.(Arg980Ter)"	""	""
"0000263348"	"00025270"	"50"	"3049"	"0"	"3051"	"0"	"c.3049_3051delinsAGG"	"r.(?)"	"p.(Gly1017Arg)"	""	""
"0000263349"	"00025270"	"30"	"3153"	"0"	"3153"	"0"	"c.3153C>T"	"r.(?)"	"p.(His1051=)"	""	""
"0000263350"	"00025270"	"10"	"327"	"0"	"327"	"0"	"c.327G>A"	"r.(?)"	"p.(Lys109=)"	""	""
"0000263351"	"00025270"	"90"	"3334"	"0"	"3334"	"0"	"c.3334C>T"	"r.(?)"	"p.(Gln1112Ter)"	""	""
"0000263352"	"00025270"	"10"	"3512"	"-10"	"3512"	"-10"	"c.3512-10C>A"	"r.(=)"	"p.(=)"	""	""
"0000263353"	"00025270"	"90"	"3631"	"0"	"3631"	"0"	"c.3631C>A"	"r.(?)"	"p.(Arg1211=)"	""	""
"0000263354"	"00025270"	"90"	"3677"	"0"	"3677"	"0"	"c.3677del"	"r.(?)"	"p.(Ile1226LysfsTer7)"	""	""
"0000263355"	"00025270"	"90"	"3763"	"0"	"3763"	"0"	"c.3763G>A"	"r.(?)"	"p.(Gly1255Arg)"	""	""
"0000263356"	"00025270"	"90"	"4198"	"0"	"4199"	"0"	"c.4198_4199del"	"r.(?)"	"p.(Val1400SerfsTer8)"	""	""
"0000263357"	"00025270"	"10"	"4226"	"11"	"4226"	"11"	"c.4226+11T>C"	"r.(=)"	"p.(=)"	""	""
"0000263358"	"00025270"	"50"	"4356"	"0"	"4356"	"0"	"c.4356G>C"	"r.(?)"	"p.(Leu1452Phe)"	""	""
"0000263359"	"00025270"	"10"	"491"	"0"	"491"	"0"	"c.491G>A"	"r.(?)"	"p.(Ser164Asn)"	""	""
"0000334737"	"00025270"	"30"	"-21"	"-2631"	"-21"	"-2631"	"c.-21-2631C>T"	"r.(=)"	"p.(=)"	""	""
"0000334738"	"00025270"	"50"	"-21"	"-2424"	"-21"	"-2424"	"c.-21-2424C>G"	"r.(=)"	"p.(=)"	""	""
"0000334740"	"00025270"	"50"	"-21"	"-2101"	"-21"	"-2101"	"c.-21-2101C>T"	"r.(=)"	"p.(=)"	""	""
"0000334742"	"00025270"	"50"	"92"	"0"	"92"	"0"	"c.92G>A"	"r.(?)"	"p.(Gly31Glu)"	""	""
"0000334743"	"00025270"	"30"	"410"	"0"	"410"	"0"	"c.410A>G"	"r.(?)"	"p.(Asn137Ser)"	""	""
"0000334744"	"00025270"	"30"	"491"	"0"	"491"	"0"	"c.491G>A"	"r.(?)"	"p.(Ser164Asn)"	""	""
"0000334745"	"00025270"	"30"	"610"	"8"	"610"	"8"	"c.610+8G>A"	"r.(=)"	"p.(=)"	""	""
"0000334747"	"00025270"	"30"	"1009"	"0"	"1009"	"0"	"c.1009G>A"	"r.(?)"	"p.(Ala337Thr)"	""	""
"0000334749"	"00025270"	"50"	"1179"	"0"	"1179"	"0"	"c.1179G>T"	"r.(?)"	"p.(Gln393His)"	""	""
"0000334751"	"00025270"	"50"	"1955"	"0"	"1955"	"0"	"c.1955G>A"	"r.(?)"	"p.(Arg652Gln)"	""	""
"0000334752"	"00025270"	"50"	"2313"	"0"	"2313"	"0"	"c.2313G>C"	"r.(?)"	"p.(Glu771Asp)"	""	""
"0000334755"	"00025270"	"30"	"4261"	"0"	"4261"	"0"	"c.4261C>T"	"r.(?)"	"p.(Pro1421Ser)"	""	""
"0000334756"	"00025270"	"30"	"4267"	"0"	"4267"	"0"	"c.4267C>T"	"r.(?)"	"p.(Arg1423Trp)"	""	""
"0000334757"	"00025270"	"30"	"4390"	"0"	"4390"	"0"	"c.4390A>G"	"r.(?)"	"p.(Ile1464Val)"	""	""
"0000334758"	"00025270"	"50"	"4411"	"0"	"4411"	"0"	"c.4411A>C"	"r.(?)"	"p.(Lys1471Gln)"	""	""
"0000338756"	"00025270"	"30"	"3658"	"4"	"3658"	"4"	"c.3658+4A>G"	"r.spl?"	"p.?"	""	""
"0000341094"	"00025270"	"50"	"3103"	"0"	"3103"	"0"	"c.3103G>A"	"r.(?)"	"p.(Ala1035Thr)"	""	""
"0000342847"	"00025270"	"30"	"-21"	"-2100"	"-21"	"-2100"	"c.-21-2100G>A"	"r.(=)"	"p.(=)"	""	""
"0000348189"	"00025270"	"70"	"4156"	"0"	"4156"	"0"	"c.4156C>T"	"r.(?)"	"p.(Pro1386Ser)"	""	""
"0000393087"	"00025270"	"00"	"-21"	"-2239"	"-21"	"-2239"	"c.-21-2239C>T"	"r.(=)"	"p.(=)"	""	""
"0000393088"	"00025270"	"00"	"-21"	"-2019"	"-21"	"-2019"	"c.-21-2019C>T"	"r.(=)"	"p.(=)"	""	""
"0000408061"	"00025270"	"00"	"-21"	"-3660"	"1336"	"0"	"c.-21-3660_1336del"	"r.spl?"	"p.?"	""	""
"0000577531"	"00025270"	"30"	"-21"	"-2061"	"-21"	"-2061"	"c.-21-2061C>T"	"r.(=)"	"p.(=)"	""	""
"0000577532"	"00025270"	"50"	"532"	"0"	"532"	"0"	"c.532G>A"	"r.(?)"	"p.(Glu178Lys)"	""	""
"0000577533"	"00025270"	"10"	"565"	"0"	"565"	"0"	"c.565A>G"	"r.(?)"	"p.(Ile189Val)"	""	""
"0000577534"	"00025270"	"30"	"565"	"0"	"565"	"0"	"c.565A>G"	"r.(?)"	"p.(Ile189Val)"	""	""
"0000577536"	"00025270"	"10"	"1009"	"0"	"1009"	"0"	"c.1009G>A"	"r.(?)"	"p.(Ala337Thr)"	""	""
"0000577537"	"00025270"	"30"	"1009"	"0"	"1009"	"0"	"c.1009G>A"	"r.(?)"	"p.(Ala337Thr)"	""	""
"0000577538"	"00025270"	"30"	"1337"	"-4"	"1337"	"-4"	"c.1337-4C>T"	"r.spl?"	"p.?"	""	""
"0000577539"	"00025270"	"30"	"1385"	"0"	"1385"	"0"	"c.1385C>T"	"r.(?)"	"p.(Pro462Leu)"	""	""
"0000577540"	"00025270"	"30"	"1427"	"0"	"1427"	"0"	"c.1427C>T"	"r.(?)"	"p.(Thr476Ile)"	""	""
"0000577541"	"00025270"	"30"	"1493"	"0"	"1493"	"0"	"c.1493C>G"	"r.(?)"	"p.(Thr498Ser)"	""	""
"0000577542"	"00025270"	"10"	"1516"	"0"	"1516"	"0"	"c.1516A>G"	"r.(?)"	"p.(Ile506Val)"	""	""
"0000577543"	"00025270"	"30"	"1516"	"0"	"1516"	"0"	"c.1516A>G"	"r.(?)"	"p.(Ile506Val)"	""	""
"0000577544"	"00025270"	"30"	"1867"	"0"	"1867"	"0"	"c.1867G>A"	"r.(?)"	"p.(Glu623Lys)"	""	""
"0000577545"	"00025270"	"50"	"1885"	"0"	"1885"	"0"	"c.1885G>C"	"r.(?)"	"p.(Ala629Pro)"	""	""
"0000577546"	"00025270"	"30"	"1893"	"0"	"1893"	"0"	"c.1893G>C"	"r.(?)"	"p.(Leu631Phe)"	""	""
"0000577547"	"00025270"	"50"	"2267"	"0"	"2267"	"0"	"c.2267T>G"	"r.(?)"	"p.(Ile756Ser)"	""	""
"0000577548"	"00025270"	"50"	"2531"	"0"	"2531"	"0"	"c.2531G>A"	"r.(?)"	"p.(Arg844His)"	""	""
"0000577549"	"00025270"	"30"	"2687"	"0"	"2687"	"0"	"c.2687A>G"	"r.(?)"	"p.(Gln896Arg)"	""	""
"0000577551"	"00025270"	"90"	"3176"	"0"	"3180"	"0"	"c.3176_3180del"	"r.(?)"	"p.(Val1059GlyfsTer4)"	""	""
"0000577552"	"00025270"	"30"	"3499"	"0"	"3499"	"0"	"c.3499G>A"	"r.(?)"	"p.(Ala1167Thr)"	""	""
"0000577553"	"00025270"	"30"	"4066"	"0"	"4066"	"0"	"c.4066C>T"	"r.(?)"	"p.(Arg1356Trp)"	""	""
"0000577554"	"00025270"	"30"	"4067"	"0"	"4067"	"0"	"c.4067G>A"	"r.(?)"	"p.(Arg1356Gln)"	""	""
"0000577555"	"00025270"	"10"	"4201"	"0"	"4201"	"0"	"c.4201G>C"	"r.(?)"	"p.(Val1401Leu)"	""	""
"0000577556"	"00025270"	"10"	"4201"	"0"	"4201"	"0"	"c.4201G>C"	"r.(?)"	"p.(Val1401Leu)"	""	""
"0000577557"	"00025270"	"10"	"4390"	"0"	"4390"	"0"	"c.4390A>G"	"r.(?)"	"p.(Ile1464Val)"	""	""
"0000577558"	"00025270"	"10"	"4390"	"0"	"4390"	"0"	"c.4390A>G"	"r.(?)"	"p.(Ile1464Val)"	""	""
"0000619905"	"00025270"	"50"	"92"	"0"	"92"	"0"	"c.92G>A"	"r.(?)"	"p.(Gly31Glu)"	""	""
"0000619906"	"00025270"	"10"	"610"	"8"	"610"	"8"	"c.610+8G>A"	"r.(=)"	"p.(=)"	""	""
"0000619907"	"00025270"	"30"	"1009"	"0"	"1009"	"0"	"c.1009G>A"	"r.(?)"	"p.(Ala337Thr)"	""	""
"0000619909"	"00025270"	"30"	"2907"	"0"	"2907"	"0"	"c.2907C>G"	"r.(?)"	"p.(Thr969=)"	""	""
"0000619910"	"00025270"	"30"	"4201"	"0"	"4201"	"0"	"c.4201G>C"	"r.(?)"	"p.(Val1401Leu)"	""	""
"0000619911"	"00025270"	"10"	"4389"	"0"	"4389"	"0"	"c.4389T>C"	"r.(?)"	"p.(Ser1463=)"	""	""
"0000624727"	"00025270"	"30"	"-22"	"8"	"-22"	"8"	"c.-22+8C>G"	"r.(=)"	"p.(=)"	""	""
"0000624728"	"00025270"	"50"	"146"	"0"	"146"	"0"	"c.146C>T"	"r.(?)"	"p.(Thr49Ile)"	""	""
"0000624729"	"00025270"	"30"	"645"	"0"	"645"	"0"	"c.645T>C"	"r.(?)"	"p.(Tyr215=)"	""	""
"0000624730"	"00025270"	"30"	"2452"	"0"	"2452"	"0"	"c.2452A>G"	"r.(?)"	"p.(Thr818Ala)"	""	""
"0000624731"	"00025270"	"30"	"2709"	"0"	"2709"	"0"	"c.2709C>T"	"r.(?)"	"p.(Cys903=)"	""	""
"0000624733"	"00025270"	"10"	"4226"	"11"	"4226"	"11"	"c.4226+11T>C"	"r.(=)"	"p.(=)"	""	""
"0000624888"	"00025270"	"90"	"1708"	"-2"	"1708"	"-2"	"c.1708-2A>G"	"r.(?)"	"p.(?)"	""	""
"0000652955"	"00025270"	"90"	"2173"	"-2"	"2173"	"-2"	"c.2173-2A>G"	"r.spl?"	"p.?"	""	""
"0000652956"	"00025270"	"50"	"2903"	"0"	"2903"	"0"	"c.2903A>G"	"r.(?)"	"p.(Glu968Gly)"	""	""
"0000652957"	"00025270"	"50"	"3002"	"0"	"3002"	"0"	"c.3002C>T"	"r.(?)"	"p.(Pro1001Leu)"	""	""
"0000652958"	"00025270"	"90"	"3802"	"-1"	"3802"	"-1"	"c.3802-1G>T"	"r.spl?"	"p.?"	""	""
"0000659456"	"00025270"	"30"	"1615"	"0"	"1615"	"0"	"c.1615C>A"	"r.(?)"	"p.(Pro539Thr)"	""	""
"0000659457"	"00025270"	"30"	"2043"	"0"	"2043"	"0"	"c.2043T>C"	"r.(?)"	"p.(Leu681=)"	""	""
"0000659458"	"00025270"	"10"	"2299"	"0"	"2299"	"0"	"c.2299G>C"	"r.(?)"	"p.(Val767Leu)"	""	""
"0000659459"	"00025270"	"30"	"2519"	"0"	"2519"	"0"	"c.2519A>T"	"r.(?)"	"p.(Glu840Val)"	""	""
"0000659460"	"00025270"	"50"	"2827"	"0"	"2827"	"0"	"c.2827C>T"	"r.(?)"	"p.(Pro943Ser)"	""	""
"0000659461"	"00025270"	"30"	"2903"	"0"	"2903"	"0"	"c.2903A>G"	"r.(?)"	"p.(Glu968Gly)"	""	""
"0000660695"	"00025270"	"50"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(?)"	"p.(Arg652Trp)"	""	""
"0000664045"	"00025270"	"70"	"2303"	"0"	"2303"	"0"	"c.2303C>G"	"r.(?)"	"p.(Ala768Gly)"	""	""
"0000682652"	"00025270"	"10"	"327"	"0"	"327"	"0"	"c.327G>A"	"r.(?)"	"p.(Lys109=)"	""	""
"0000682653"	"00025270"	"50"	"961"	"0"	"961"	"0"	"c.961T>C"	"r.(?)"	"p.(Tyr321His)"	""	""
"0000682655"	"00025270"	"30"	"1384"	"0"	"1384"	"0"	"c.1384C>G"	"r.(?)"	"p.(Pro462Ala)"	""	""
"0000682656"	"00025270"	"50"	"2039"	"0"	"2039"	"0"	"c.2039C>T"	"r.(?)"	"p.(Thr680Ile)"	""	""
"0000682657"	"00025270"	"50"	"2187"	"0"	"2187"	"0"	"c.2187G>C"	"r.(?)"	"p.(Trp729Cys)"	""	""
"0000682658"	"00025270"	"30"	"2225"	"0"	"2225"	"0"	"c.2225A>G"	"r.(?)"	"p.(Lys742Arg)"	""	""
"0000682659"	"00025270"	"30"	"2241"	"0"	"2241"	"0"	"c.2241C>T"	"r.(?)"	"p.(Asp747=)"	""	""
"0000682660"	"00025270"	"30"	"2245"	"0"	"2245"	"0"	"c.2245C>T"	"r.(?)"	"p.(Leu749=)"	""	""
"0000682661"	"00025270"	"50"	"3449"	"0"	"3449"	"0"	"c.3449T>C"	"r.(?)"	"p.(Ile1150Thr)"	""	""
"0000682662"	"00025270"	"30"	"3621"	"0"	"3621"	"0"	"c.3621G>A"	"r.(?)"	"p.(Glu1207=)"	""	""
"0000682663"	"00025270"	"30"	"3641"	"0"	"3641"	"0"	"c.3641T>C"	"r.(?)"	"p.(Val1214Ala)"	""	""
"0000682664"	"00025270"	"30"	"4038"	"0"	"4038"	"0"	"c.4038C>T"	"r.(?)"	"p.(Asp1346=)"	""	""
"0000682665"	"00025270"	"30"	"4066"	"0"	"4066"	"0"	"c.4066C>T"	"r.(?)"	"p.(Arg1356Trp)"	""	""
"0000682666"	"00025270"	"30"	"4389"	"0"	"4389"	"0"	"c.4389T>C"	"r.(?)"	"p.(Ser1463=)"	""	""
"0000682823"	"00025270"	"50"	"1301"	"0"	"1301"	"0"	"c.1301C>A"	"r.(?)"	"p.(Ala434Glu)"	""	""
"0000693752"	"00025270"	"30"	"168"	"0"	"168"	"0"	"c.168A>G"	"r.(?)"	"p.(Leu56=)"	""	""
"0000693753"	"00025270"	"30"	"2452"	"0"	"2452"	"0"	"c.2452A>G"	"r.(?)"	"p.(Thr818Ala)"	""	""
"0000693754"	"00025270"	"30"	"2523"	"0"	"2523"	"0"	"c.2523T>C"	"r.(?)"	"p.(Leu841=)"	""	""
"0000693755"	"00025270"	"30"	"2530"	"0"	"2530"	"0"	"c.2530C>T"	"r.(?)"	"p.(Arg844Cys)"	""	""
"0000695170"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.-160_(-22+1_-21-1){0}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000695171"	"00025270"	"97"	"408"	"0"	"415"	"0"	"c.408_415del"	"r.408_415del"	"p.(Asn137Lysfs*22)"	"3"	""
"0000695172"	"00025270"	"97"	"526"	"0"	"529"	"0"	"c.526_529dup"	"r.(?)"	"p.(Val177Glufs*12)"	"3"	""
"0000695173"	"00025270"	"97"	"657"	"0"	"661"	"0"	"c.657_661del"	"r.657_661del"	"p.(Ile220Serfs*9)"	"4"	""
"0000695174"	"00025270"	"97"	"659"	"0"	"663"	"0"	"c.659_663del"	"r.659_663del"	"p.(Ile220Serfs*9)"	"4"	""
"0000695175"	"00025270"	"97"	"890"	"0"	"890"	"0"	"c.890del"	"r.890del"	"p.(Ser297Ilefs*9)"	"4"	""
"0000695176"	"00025270"	"97"	"1028"	"0"	"1028"	"0"	"c.1028dup"	"r.(?)"	"p.(Tyr343*)"	"4"	""
"0000695177"	"00025270"	"97"	"1135"	"0"	"1135"	"0"	"c.1135del"	"r.(?)"	"p.(Thr379Leufs*2)"	"4"	""
"0000695178"	"00025270"	"97"	"1234"	"0"	"1234"	"0"	"c.1234del"	"r.(?)"	"p.(Ala413Glnfs*13)"	"4"	""
"0000695179"	"00025270"	"97"	"1748"	"0"	"1749"	"0"	"c.1748_1749del"	"r.[1748_1749del,1708_1869del,1708_2172del]"	"p.?"	"7"	""
"0000695180"	"00025270"	"97"	"1748"	"0"	"1749"	"0"	"c.1748_1749del"	"r.(?)"	"p.(Glu583Valfs*2)"	"7"	""
"0000695181"	"00025270"	"97"	"1770"	"0"	"1771"	"0"	"c.1770_1771del"	"r.(?)"	"p.(Gly591Aspfs*16)"	"7"	""
"0000695182"	"00025270"	"97"	"1780"	"0"	"1780"	"0"	"c.1780dup"	"r.(?)"	"p.(Tyr594Leufs*14)"	"7"	""
"0000695183"	"00025270"	"97"	"1818"	"0"	"1818"	"0"	"c.1818del"	"r.(?)"	"p.(Lys607Asnfs*19)"	"7"	""
"0000695184"	"00025270"	"97"	"1884"	"0"	"1884"	"0"	"c.1884dup"	"r.(?)"	"p.(Ala629Serfs*16)"	"8"	""
"0000695185"	"00025270"	"97"	"1948"	"0"	"1949"	"0"	"c.1948_1949insAAGAT"	"r.(?)"	"p.(Trp650*)"	"9"	""
"0000695186"	"00025270"	"97"	"2057"	"0"	"2057"	"0"	"c.2057del"	"r.(?)"	"p.(Asn686Thrfs*2)"	"9"	""
"0000695187"	"00025270"	"97"	"2153"	"0"	"2154"	"0"	"c.2153_2154ins(382)"	"r.1947_2172del"	"p.?"	"9"	""
"0000695188"	"00025270"	"97"	"2159"	"0"	"2159"	"0"	"c.2159del"	"r.(?)"	"p.(Cys720Leufs*20)"	"9"	""
"0000695189"	"00025270"	"97"	"2206"	"0"	"2206"	"0"	"c.2206dup"	"r.(?)"	"p.(Tyr736Leufs*2)"	"10"	""
"0000695190"	"00025270"	"97"	"2284"	"0"	"2285"	"0"	"c.2284_2285del"	"r.(?)"	"p.(Leu762Aspfs*9)"	"10"	""
"0000695191"	"00025270"	"97"	"2314"	"0"	"2317"	"0"	"c.2314_2317del"	"r.(?)"	"p.(Arg772Profs*3)"	"10"	""
"0000695192"	"00025270"	"97"	"2337"	"0"	"2350"	"0"	"c.2337_2350del"	"r.(?)"	"p.(Phe780Profs*42)"	"10"	""
"0000695193"	"00025270"	"97"	"2508"	"0"	"2508"	"0"	"c.2508del"	"r.2508del"	"p.(Val837Trpfs*14)"	"12"	""
"0000695194"	"00025270"	"97"	"2888"	"0"	"2888"	"0"	"c.2888del"	"r.(?)"	"p.(Asn963Ilefs*22)"	"14"	""
"0000695195"	"00025270"	"97"	"2938"	"0"	"2938"	"0"	"c.2938del"	"r.(?)"	"p.(Arg980Glufs*5)"	"15"	""
"0000695196"	"00025270"	"97"	"3040"	"0"	"3040"	"0"	"c.3040dup"	"r.2917_3111del"	"p.?"	"15"	"Transduction D lacking"
"0000695197"	"00025270"	"97"	"3045"	"0"	"3045"	"0"	"c.3045del"	"r.(?)"	"p.(Thr1016Glnfs*3)"	"15"	""
"0000695198"	"00025270"	"97"	"3071"	"0"	"3072"	"0"	"c.3071_3072dup"	"r.(?)"	"p.(Leu1025Tyrfs*2)"	"15"	""
"0000695199"	"00025270"	"97"	"3244"	"0"	"3244"	"0"	"c.3244dup"	"r.(?)"	"p.(Ser1082Lysfs*2)"	"16"	""
"0000695200"	"00025270"	"97"	"3293"	"0"	"3294"	"0"	"c.3293_3294del"	"r.3112_3294del"	"p.(Gln1098Argfs*5)"	"16"	""
"0000695201"	"00025270"	"97"	"3492"	"0"	"3492"	"0"	"c.3492del"	"r.(?)"	"p.(Ile1165Leufs*24)"	"17"	""
"0000695202"	"00025270"	"97"	"3681"	"0"	"3681"	"0"	"c.3681del"	"r.(?)"	"p.(Ile1228Leufs*5)"	"19"	""
"0000695203"	"00025270"	"97"	"3693"	"0"	"3694"	"0"	"c.3693_3694del"	"r.3693_3694del"	"p.(Val1232Glufs*3)"	"19"	""
"0000695204"	"00025270"	"97"	"3705"	"0"	"3705"	"0"	"c.3705del"	"r.(?)"	"p.(Ala1236Glnfs*8)"	"19"	""
"0000695205"	"00025270"	"97"	"3882"	"0"	"3882"	"0"	"c.3882del"	"r.(?)"	"p.(Lys1294Asnfs*3)"	"20"	""
"0000695206"	"00025270"	"97"	"4005"	"1"	"4005"	"1"	"c.4005+1del"	"r.spl"	"p.?"	"20i"	""
"0000695207"	"00025270"	"97"	"4014"	"0"	"4016"	"0"	"c.4014_4016del"	"r.3802_4123del"	"p.(Leu1339del)"	"21"	""
"0000695208"	"00025270"	"97"	"4030"	"0"	"4031"	"0"	"c.4030_4031insTGCCA"	"r.(?)"	"p.(Ser1344Metfs*16)"	"21"	""
"0000695209"	"00025270"	"97"	"4132"	"0"	"4132"	"0"	"c.4132dup"	"r.[4132dup,4124_4155del]"	"p.(Met1378Asnfs*31)"	"22"	""
"0000695210"	"00025270"	"97"	"4141"	"0"	"4150"	"0"	"c.4141_4150del"	"r.(?)"	"p.(Gly1381Cysfs*17)"	"22"	""
"0000695211"	"00025270"	"97"	"4198"	"0"	"4199"	"0"	"c.4198_4199del"	"r.(?)"	"p.(Val1400Serfs*8)"	"22"	""
"0000695212"	"00025270"	"97"	"4210"	"0"	"4226"	"19"	"c.4210_4226+19del"	"r.4124_4226del"	"p.?"	"22_22i"	""
"0000695213"	"00025270"	"97"	"4352"	"0"	"4352"	"0"	"c.4352del"	"r.4352del"	"p.(Gly1451Valfs*14)"	"23"	""
"0000695214"	"00025270"	"97"	"499"	"0"	"499"	"0"	"c.499C>T"	"r.(?)"	"p.(Gln167*)"	"3"	""
"0000695215"	"00025270"	"97"	"499"	"0"	"499"	"0"	"c.499C>T"	"r.(?)"	"p.(Gln167*)"	"3"	""
"0000695216"	"00025270"	"97"	"589"	"0"	"589"	"0"	"c.589C>T"	"r.(?)"	"p.(Gln197*)"	"3"	""
"0000695217"	"00025270"	"97"	"601"	"0"	"601"	"0"	"c.601C>T"	"r.(?)"	"p.(Arg201*)"	"3"	""
"0000695218"	"00025270"	"97"	"721"	"0"	"721"	"0"	"c.721C>T"	"r.611_1336del"	"p.?"	"4"	"2 MBD lacking"
"0000695219"	"00025270"	"97"	"1225"	"0"	"1225"	"0"	"c.1225C>T"	"r.(?)"	"p.(Arg409*)"	"4"	""
"0000695220"	"00025270"	"97"	"1460"	"0"	"1460"	"0"	"c.1460C>A"	"r.(?)"	"p.(Ser487*)"	"5"	""
"0000695221"	"00025270"	"97"	"1585"	"0"	"1585"	"0"	"c.1585G>T"	"r.(?)"	"p.(Glu529*)"	"6"	""
"0000695222"	"00025270"	"97"	"1734"	"0"	"1734"	"0"	"c.1734C>A"	"r.(?)"	"p.(Cys578*)"	"7"	""
"0000695223"	"00025270"	"97"	"1874"	"0"	"1874"	"0"	"c.1874T>R"	"r.(?)"	"p.(Leu625*)"	"8"	""
"0000695224"	"00025270"	"97"	"1910"	"0"	"1910"	"0"	"c.1910C>G"	"r.(?)"	"p.(Ser637*)"	"8"	""
"0000695225"	"00025270"	"97"	"1933"	"0"	"1933"	"0"	"c.1933C>T"	"r.[1933c>u,1870_1946del]"	"p.(Arg645*)"	"8"	""
"0000695226"	"00025270"	"97"	"1933"	"0"	"1933"	"0"	"c.1933C>T"	"r.(?)"	"p.(Arg645*)"	"8"	""
"0000695227"	"00025270"	"97"	"1933"	"0"	"1933"	"0"	"c.1933C>T"	"r.(?)"	"p.(Arg645*)"	"8"	""
"0000695228"	"00025270"	"97"	"1933"	"0"	"1933"	"0"	"c.1933C>T"	"r.(?)"	"p.(Arg645*)"	"8"	""
"0000695229"	"00025270"	"97"	"1933"	"0"	"1933"	"0"	"c.1933C>T"	"r.(?)"	"p.(Arg645*)"	"8"	""
"0000695230"	"00025270"	"97"	"1936"	"0"	"1936"	"0"	"c.1936G>T"	"r.(?)"	"p.(Glu646*)"	"8"	""
"0000695231"	"00025270"	"97"	"1949"	"0"	"1949"	"0"	"c.1949G>A"	"r.(?)"	"p.(Trp650*)"	"9"	""
"0000695232"	"00025270"	"97"	"2068"	"0"	"2068"	"0"	"c.2068G>T"	"r.(?)"	"p.(Glu690*)"	"9"	""
"0000695233"	"00025270"	"97"	"2153"	"0"	"2153"	"0"	"c.2153T>A"	"r.(?)"	"p.(Leu718*)"	"9"	""
"0000695234"	"00025270"	"97"	"2383"	"0"	"2383"	"0"	"c.2383C>T"	"r.(?)"	"p.(Arg795*)"	"10"	""
"0000695235"	"00025270"	"97"	"2446"	"0"	"2446"	"0"	"c.2446C>T"	"r.(?)"	"p.(Gln816*)"	"11"	""
"0000695236"	"00025270"	"97"	"2686"	"0"	"2686"	"0"	"c.2686C>T"	"r.(?)"	"p.(Gln896*)"	"13"	""
"0000695237"	"00025270"	"97"	"2743"	"0"	"2743"	"0"	"c.2743C>T"	"r.(?)"	"p.(Gln915*)"	"13"	""
"0000695238"	"00025270"	"97"	"2770"	"0"	"2770"	"0"	"c.2770C>T"	"r.(?)"	"p.(Gln924*)"	"13"	""
"0000695239"	"00025270"	"97"	"2867"	"0"	"2867"	"0"	"c.2867G>A"	"r.(?)"	"p.(Trp956*)"	"14"	""
"0000695240"	"00025270"	"97"	"2938"	"0"	"2938"	"0"	"c.2938C>T"	"r.(?)"	"p.(Arg980*)"	"15"	""
"0000695241"	"00025270"	"97"	"2938"	"0"	"2938"	"0"	"c.2938C>T"	"r.(?)"	"p.(Arg980*)"	"15"	""
"0000695242"	"00025270"	"97"	"2944"	"0"	"2944"	"0"	"c.2944G>T"	"r.2917_3111del"	"p.?"	"15"	"Transduction D lacking"
"0000695243"	"00025270"	"97"	"2956"	"0"	"2956"	"0"	"c.2956C>T"	"r.(?)"	"p.(Arg986*)"	"15"	""
"0000695244"	"00025270"	"97"	"2956"	"0"	"2956"	"0"	"c.2956C>T"	"r.(?)"	"p.(Arg986*)"	"15"	""
"0000695245"	"00025270"	"97"	"2956"	"0"	"2956"	"0"	"c.2956C>T"	"r.(?)"	"p.(Arg986*)"	"15"	""
"0000695246"	"00025270"	"97"	"2956"	"0"	"2956"	"0"	"c.2956C>T"	"r.(?)"	"p.(Arg986*)"	"15"	""
"0000695247"	"00025270"	"97"	"3241"	"0"	"3241"	"0"	"c.3241G>T"	"r.(?)"	"p.(Glu1081*)"	"16"	""
"0000695248"	"00025270"	"97"	"3560"	"0"	"3560"	"0"	"c.3560^3561G>A"	"r.(?)"	"p.(Trp1187*)"	"18"	""
"0000695249"	"00025270"	"97"	"3775"	"0"	"3775"	"0"	"c.3775A>T"	"r.(?)"	"p.(Lys1259*)"	"19"	""
"0000695250"	"00025270"	"97"	"3862"	"0"	"3862"	"0"	"c.3862C>T"	"r.(?)"	"p.(Gln1288*)"	"20"	""
"0000695251"	"00025270"	"97"	"4152"	"0"	"4152"	"0"	"c.4152G>T"	"r.(?)"	"p.(Leu1384Phe)"	"22"	""
"0000695252"	"00025270"	"97"	"1885"	"0"	"1885"	"0"	"c.1885G>C"	"r.(?)"	"p.(Ala629Pro)"	"8"	"SLGFEASLV (Part of MBD 6). Identical in all ATP7A/ATP7B"
"0000695253"	"00025270"	"97"	"1885"	"0"	"1885"	"0"	"c.1885G>C"	"r.(?)"	"p.(Ala629Pro)"	"8"	""
"0000695254"	"00025270"	"97"	"1885"	"0"	"1885"	"0"	"c.1885G>C"	"r.[1885g>c,1870_1946del]"	"p.(Ala629Pro)"	"8"	"MBD6-TMD1 link"
"0000695255"	"00025270"	"97"	"1910"	"0"	"1910"	"0"	"c.1910C>T"	"r.[1910c>u,1870_1946del,2173_2406del,1870_2406del]"	"p.(Ser637Leu)"	"8"	"DRSAS Identical in all ATP7A"
"0000695256"	"00025270"	"97"	"1910"	"0"	"1910"	"0"	"c.1910C>T"	"r.(?)"	"p.(Ser637Leu)"	"8"	""
"0000695257"	"00025270"	"97"	"1996"	"0"	"1996"	"0"	"c.1996G>M"	"r.(?)"	"p.(Gly666Arg)"	"9"	""
"0000695258"	"00025270"	"97"	"1996"	"0"	"1996"	"0"	"c.1996G>M"	"r.(?)"	"p.(Gly666Arg)"	"9"	""
"0000695259"	"00025270"	"97"	"1996"	"0"	"1996"	"0"	"c.1996G>M"	"r.(?)"	"p.(Gly666Arg)"	"9"	""
"0000695260"	"00025270"	"97"	"2059"	"0"	"2059"	"0"	"c.2059A>G"	"r.2059_2172del"	"p.?"	"9"	""
"0000695261"	"00025270"	"97"	"2117"	"0"	"2117"	"0"	"c.2117T>G"	"r.(?)"	"p.(Leu706Arg)"	"9"	"QILPGLSV. Identical in all ATP7A-Ile in all ATP7B"
"0000695262"	"00025270"	"97"	"2158"	"0"	"2158"	"0"	"c.2158T>C"	"r.(?)"	"p.(Cys720Arg)"	"9"	""
"0000695263"	"00025270"	"97"	"2171"	"0"	"2171"	"0"	"c.2171A>C"	"r.(?)"	"p.(Gln724Pro)"	"9"	""
"0000695264"	"00025270"	"97"	"2172"	"0"	"2172"	"0"	"c.2172G>T"	"r.spl?"	"p.(Gln724His)"	"9"	""
"0000695265"	"00025270"	"97"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	""
"0000695266"	"00025270"	"97"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	"FFGGWY: Part of TMD2-Identical in all ATP7A/-ATP7B"
"0000695267"	"00025270"	"97"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	""
"0000695268"	"00025270"	"97"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	""
"0000695269"	"00025270"	"97"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	""
"0000695270"	"00025270"	"97"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	""
"0000695271"	"00025270"	"97"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	""
"0000695272"	"00025270"	"97"	"2406"	"0"	"2406"	"0"	"c.2406G>C"	"r.(?)"	"p.(Lys802Asn)"	"10"	""
"0000695273"	"00025270"	"97"	"2497"	"0"	"2497"	"0"	"c.2497A>G"	"r.[2497a>g,2407_2498del,2407_2626del,2407_2626del]"	"p.?"	"11"	""
"0000695274"	"00025270"	"97"	"2531"	"0"	"2531"	"0"	"c.2531G>A"	"r.(?)"	"p.(Arg844His)"	"12"	"RGD, A domain, segment a"
"0000695275"	"00025270"	"97"	"2531"	"0"	"2531"	"0"	"c.2531G>A"	"r.(?)"	"p.(Arg844His)"	"12"	"RGD, A domain, segment a"
"0000695276"	"00025270"	"97"	"2557"	"0"	"2557"	"0"	"c.2557G>A"	"r.(?)"	"p.(Gly853Arg)"	"12"	"PGG, A domain, segment a"
"0000695277"	"00025270"	"97"	"2557"	"0"	"2557"	"0"	"c.2557G>C"	"r.(?)"	"p.(Gly853Arg)"	"12"	"PGG, A domain, segment a"
"0000695278"	"00025270"	"97"	"2579"	"0"	"2579"	"0"	"c.2579G>T"	"r.(?)"	"p.(Gly860Val)"	"12"	"A domain, segment a"
"0000695279"	"00025270"	"97"	"2609"	"0"	"2609"	"0"	"c.2609A>G"	"r.2608_2626del"	"p.?"	"12"	"Phosphatase D/TGE"
"0000695280"	"00025270"	"97"	"2618"	"0"	"2618"	"0"	"c.2618T>G"	"r.(?)"	"p.(Leu873Arg)"	"12"	"LITGEA, A domain, segment b    Identical in all ATP7A/ATP7B"
"0000695281"	"00025270"	"97"	"2626"	"0"	"2626"	"0"	"c.2626G>C"	"r.spl?"	"p.(Gly876Arg)"	"12"	"LITGEA, A domain, segment b"
"0000695282"	"00025270"	"97"	"2627"	"0"	"2627"	"0"	"c.2627G>A"	"r.[2981c>u,2782_3111del]"	"p.(Gly876Glu)"	"13"	"LITGEA, A domain  Segment b, Identical in all 70 sequences"
"0000695283"	"00025270"	"97"	"2771"	"0"	"2771"	"0"	"c.2771A>G"	"r.(?)"	"p.(Arg924Gln)"	"13"	"Stalk S4"
"0000695284"	"00025270"	"97"	"2981"	"0"	"2981"	"0"	"c.2981C>T"	"r.(?)"	"p.(Thr994Ile)"	"14"	""
"0000695285"	"00025270"	"97"	"2998"	"0"	"2998"	"0"	"c.2998T>C"	"r.(?)"	"p.(Cys1000Arg)"	"15"	"CPC, TM6 segment d. Identical in all 49 probable Cu ATPases"
"0000695286"	"00025270"	"97"	"3002"	"0"	"3002"	"0"	"c.3002C>T"	"r.(?)"	"p.(Pro1001Leu)"	"15"	""
"0000695287"	"00025270"	"97"	"3013"	"0"	"3013"	"0"	"c.3013G>A"	"r.(?)"	"p.(Gly1005Arg)"	"15"	"//Transduction D - CPCSLGLAT"
"0000695288"	"00025270"	"97"	"3007"	"0"	"3007"	"0"	"c.3007T>C"	"r.(?)"	"p.(Ser1003Pro)"	"15"	"CPCSLGLAT//TM6, segment d//Identical in all 49 probable Cu ATPases Small nonpolar//Nonpolar with secondary amino group"
"0000695289"	"00025270"	"97"	"3020"	"0"	"3020"	"0"	"c.3020C>T"	"r.(?)"	"p.(Ala1007Val)"	"15"	"TM6, segment d"
"0000695290"	"00025270"	"97"	"3043"	"0"	"3043"	"0"	"c.3043G>A"	"r.3040_3111del"	"p.?"	"15"	"transduction D-Phosphorylation D link"
"0000695291"	"00025270"	"97"	"3044"	"0"	"3044"	"0"	"c.3044G>A"	"r.(?)"	"p.(Gly1015Asp)"	"15"	""
"0000695292"	"00025270"	"97"	"3056"	"0"	"3056"	"0"	"c.3056G>A"	"r.(?)"	"p.(Gly1019Asp)"	"15"	"VGAQNG. Identical in all ATP7A"
"0000695293"	"00025270"	"97"	"3111"	"0"	"3111"	"0"	"c.3111G>A"	"r.spl"	"p.(Lys1037Asn)"	"15"	""
"0000695294"	"00025270"	"97"	"3131"	"0"	"3131"	"0"	"c.3131A>G"	"r.(?)"	"p.(Asp1044Gly)"	"16"	""
"0000695295"	"00025270"	"97"	"3131"	"0"	"3131"	"0"	"c.3131A>G"	"r.(?)"	"p.(Asp1044Gly)"	"16"	"DKTG, P domain, segment e"
"0000695296"	"00025270"	"97"	"3143"	"0"	"3143"	"0"	"c.3143C>T"	"r.(?)"	"p.(Thr1048Ile)"	"16"	"DKTGTIT"
"0000695297"	"00025270"	"97"	"3293"	"0"	"3293"	"0"	"c.3293A>C"	"r.3293a>c"	"p.Gln1098Pro"	"16"	"Phosphorylation D-ATP binding D link"
"0000695298"	"00025270"	"97"	"3299"	"0"	"3299"	"0"	"c.3299T>C"	"r.(?)"	"p.(Leu1100Pro)"	"17"	"proposed N domain, segment e"
"0000695299"	"00025270"	"97"	"3353"	"0"	"3353"	"0"	"c.3353G>A"	"r.(?)"	"p.(Gly1118Asp)"	"17"	"GCGIS. Proposed N domain. Identical in 49 of the 70 sequences"
"0000695300"	"00025270"	"97"	"3763"	"0"	"3763"	"0"	"c.3763G>A"	"r.(?)"	"p.(Gly1255Arg)"	"19"	"TGDN, P domain, segment f. Identical in all 70 sequences"
"0000695301"	"00025270"	"97"	"3836"	"0"	"3836"	"0"	"c.3836C>T"	"r.(?)"	"p.(Pro1279Leu)"	"20"	""
"0000695302"	"00025270"	"97"	"3844"	"0"	"3844"	"0"	"c.3844A>G"	"r.(?)"	"p.(Lys1282Glu)"	"20"	"PSHK, P domain, segment g"
"0000695303"	"00025270"	"97"	"3899"	"0"	"3899"	"0"	"c.3899G>A"	"r.(?)"	"p.(Gly1300Glu)"	"20"	"GDGIND, P domain, segment g. Identical in all 70 sequences"
"0000695304"	"00025270"	"97"	"3904"	"0"	"3904"	"0"	"c.3904G>A"	"r.[3904g>a,3802_4005del]"	"p.(Gly1302Arg)"	"20"	"GDGIND, P domain, segment g. Identical in all 70 sequences"
"0000695305"	"00025270"	"97"	"3904"	"0"	"3904"	"0"	"c.3904G>A"	"r.(?)"	"p.(Gly1302Arg)"	"20"	""
"0000695306"	"00025270"	"97"	"3905"	"0"	"3905"	"0"	"c.3905G>T"	"r.(?)"	"p.(Gly1302Val)"	"20"	"GDGIND, P domain Segment g. Identical in all 70 sequences"
"0000695307"	"00025270"	"97"	"3911"	"0"	"3911"	"0"	"c.3911A>G"	"r.(?)"	"p.(Asn1304Ser)"	"20"	"GDGIND, P domain, segment g"
"0000695308"	"00025270"	"97"	"3912"	"0"	"3912"	"0"	"c.3912T>A"	"r.(?)"	"p.(Asn1304Lys)"	"20"	"GDGIND, P domain, segment g"
"0000695309"	"00025270"	"97"	"3914"	"0"	"3914"	"0"	"c.3914A>C"	"r.(?)"	"p.(Asp1305Ala)"	"20"	"GDGIND, P domain Segment g. Identical in all 70 sequences"
"0000695310"	"00025270"	"97"	"3943"	"0"	"3943"	"0"	"c.3943G>A"	"r.(?)"	"p.(Gly1315Arg)"	"20"	"ANVG, P domain, segment g"
"0000695311"	"00025270"	"97"	"3943"	"0"	"3943"	"0"	"c.3943G>A"	"r.(?)"	"p.(Gly1315Arg)"	"20"	""
"0000695312"	"00025270"	"97"	"3974"	"0"	"3974"	"0"	"c.3974C>T"	"r.(?)"	"p.(Ala1325Val)"	"20"	"GTDVA, P domain, segment g"
"0000695313"	"00025270"	"97"	"4032"	"0"	"4033"	"0"	"c.4032_4033delinsAT"	"r.(?)"	"p.(Ser1344_Ile1345delinsArgPhe)"	"21"	"Stalk S7 . VASID: Segment h. Identical in all ATP7A/ATP7B"
"0000695314"	"00025270"	"97"	"4085"	"0"	"4085"	"0"	"c.4085C>A"	"r.(?)"	"p.(Ala1362Asp)"	"21"	"FALIYN: TMD7. Identical in all 49 probable Cu ATPases"
"0000695315"	"00025270"	"97"	"4085"	"0"	"4085"	"0"	"c.4085C>T"	"r.(?)"	"p.(Ala1362Val)"	"21"	"FALIYN: TMD7. Identical in all 49 probable Cu ATPases"
"0000695316"	"00025270"	"97"	"4105"	"0"	"4105"	"0"	"c.4105G>A"	"r.(?)"	"p.(Gly1369Arg)"	"21"	"TM7"
"0000695317"	"00025270"	"97"	"4156"	"0"	"4156"	"0"	"c.4156C>T"	"r.(?)"	"p.(Pro1386Ser)"	"22"	""
"0000695318"	"00025270"	"97"	"4177"	"0"	"4177"	"0"	"c.4177A>G"	"r.4177A>G"	"p.(Met1393Val)"	"22"	"TMD8"
"0000695319"	"00025270"	"97"	"4178"	"0"	"4178"	"0"	"c.4178T>C"	"r.(?)"	"p.(Met1393Thr)"	"22"	""
"0000695320"	"00025270"	"97"	"4190"	"0"	"4190"	"0"	"c.4190C>T"	"r.(?)"	"p.(Ser1397Phe)"	"22"	"TMD8"
"0000695321"	"00025270"	"97"	"1707"	"1"	"1707"	"1"	"c.1707+1G>A"	"r.[1544_1707del,1544_1869del,1707insATAA]"	"p.?"	"6i"	""
"0000695322"	"00025270"	"97"	"1707"	"4"	"1707"	"4"	"c.1707+4A>G"	"r.1707_1708insguag"	"p.?"	"6i"	""
"0000695323"	"00025270"	"97"	"1707"	"5"	"1707"	"5"	"c.1707+5G>A"	"r.[1544_1707del,1544_1869del,1707ins50bp]"	"p.?"	"6i"	""
"0000695324"	"00025270"	"97"	"1707"	"6"	"1707"	"9"	"c.1707+6_1707+9del"	"r.[=,1544_1707del]"	"p.?"	"6i"	""
"0000695325"	"00025270"	"97"	"1707"	"6"	"1707"	"9"	"c.1707+6_1707+9del"	"r.[=,1544_1707del]"	"p.?"	"6i"	""
"0000695326"	"00025270"	"97"	"1708"	"-1"	"1708"	"-1"	"c.1708-1G>C"	"r.spl"	"p.?"	"6i"	""
"0000695327"	"00025270"	"97"	"1870"	"-1"	"1870"	"-1"	"c.1870-1G>C"	"r.1870_1871del"	"p.?"	"7i"	""
"0000695328"	"00025270"	"97"	"1870"	"-1"	"1870"	"-1"	"c.1870-1G>C"	"r.spl"	"p.?"	"7i"	""
"0000695329"	"00025270"	"97"	"1870"	"-1"	"1870"	"-1"	"c.1870-1G>C"	"r.spl"	"p.?"	"7i"	""
"0000695330"	"00025270"	"97"	"1870"	"-2"	"1870"	"-2"	"c.1870-2A>T"	"r.spl"	"p.?"	"7i"	""
"0000695331"	"00025270"	"97"	"1946"	"1"	"1946"	"1"	"c.1946+1G>A"	"r.spl"	"p.?"	"8i"	""
"0000695332"	"00025270"	"97"	"1946"	"1"	"1946"	"1"	"c.1946+1G>C"	"r.1870_1946del"	"p.?"	"8i"	""
"0000695333"	"00025270"	"97"	"1946"	"1"	"1946"	"1"	"c.1946+1G>T"	"r.1870_1946del"	"p.?"	"8i"	""
"0000695334"	"00025270"	"97"	"1946"	"2"	"1946"	"2"	"c.1946+2T>C"	"r.[1947-3_1948dup,1870_1946delins(5)]"	"p.?"	"8i"	""
"0000695335"	"00025270"	"97"	"1946"	"2"	"1946"	"3"	"c.1946+2_1946+3del"	"r.1870_1946del"	"p.?"	"8i"	""
"0000695336"	"00025270"	"97"	"1946"	"4"	"1946"	"4"	"c.1946+4A>G"	"r.1870_1946del"	"p.?"	"8i"	""
"0000695337"	"00025270"	"97"	"1946"	"5"	"1946"	"5"	"c.1946+5G>C"	"r.spl?"	"p.?"	"8i"	""
"0000695338"	"00025270"	"97"	"1946"	"5"	"1946"	"5"	"c.1946+5G>C"	"r.spl?"	"p.?"	"8i"	""
"0000695339"	"00025270"	"97"	"1946"	"5"	"1946"	"5"	"c.1946+5G>C"	"r.spl?"	"p.?"	"8i"	""
"0000695340"	"00025270"	"97"	"1946"	"5"	"1946"	"5"	"c.1946+5G>A"	"r.1870_1946del"	"p.?"	"8i"	""
"0000695341"	"00025270"	"97"	"1946"	"6"	"1946"	"6"	"c.1946+6T>G"	"r.1870_1946del"	"p.?"	"8i"	""
"0000695342"	"00025270"	"97"	"1947"	"-1"	"1947"	"-1"	"c.1947-1G>T"	"r.spl"	"p.?"	"8i"	""
"0000695343"	"00025270"	"97"	"2172"	"1"	"2172"	"1"	"c.2172+1G>A"	"r.spl"	"p.?"	"9i"	""
"0000695344"	"00025270"	"97"	"2172"	"5"	"2172"	"5"	"c.2172+5G>C"	"r.[1947_2172del,1870_2172del]"	"p.?"	"9i"	""
"0000695345"	"00025270"	"97"	"2172"	"5"	"2172"	"5"	"c.2172+5G>C"	"r.1947_2172del"	"p.?"	"9i"	""
"0000695346"	"00025270"	"97"	"2172"	"6"	"2172"	"6"	"c.2172+6T>G"	"r.[=,1947_2172del]"	"p.?"	"9i"	""
"0000695347"	"00025270"	"97"	"2172"	"5"	"2172"	"19"	"c.2172+5_2172+19del"	"r.spl"	"p.?"	"9i"	""
"0000695348"	"00025270"	"97"	"2173"	"-1"	"2173"	"-1"	"c.2173-1G>C"	"r.spl"	"p.?"	"9i"	""
"0000695349"	"00025270"	"97"	"2406"	"3"	"2406"	"3"	"c.2406+3A>T"	"r.2173_2406del"	"p.?"	"10i"	"TMB3-4 lacking"
"0000695350"	"00025270"	"97"	"2407"	"-2"	"2407"	"-2"	"c.2407-2A>G"	"r.2407_2498del"	"p.?"	"10i"	""
"0000695351"	"00025270"	"97"	"2498"	"1"	"2498"	"1"	"c.2498+1G>A"	"r.spl"	"p.?"	"11i"	""
"0000695352"	"00025270"	"97"	"2499"	"-1"	"2499"	"-1"	"c.2499-1G>A"	"r.spl"	"p.?"	"11i"	""
"0000695353"	"00025270"	"97"	"2499"	"-1"	"2499"	"-1"	"c.2499-1G>A"	"r.spl"	"p.?"	"11i"	""
"0000695354"	"00025270"	"97"	"2626"	"1"	"2626"	"1"	"c.2626+1G>A"	"r.spl"	"p.?"	"12i"	""
"0000695355"	"00025270"	"97"	"2626"	"2"	"2626"	"2"	"c.2626+2T>A"	"r.spl"	"p.?"	"12i"	""
"0000695356"	"00025270"	"97"	"2627"	"-2"	"2627"	"-2"	"c.2627-2A>G"	"r.spl"	"p.?"	"12i"	""
"0000695357"	"00025270"	"97"	"2781"	"1"	"2781"	"1"	"c.2781+1G>A"	"r.spl"	"p.?"	"13i"	""
"0000695358"	"00025270"	"97"	"2916"	"1"	"2916"	"1"	"c.2916+1G>A"	"r.spl"	"p.?"	"14i"	""
"0000695359"	"00025270"	"97"	"2916"	"3"	"2916"	"6"	"c.2916+3_2916+6del"	"r.spl"	"p.(=)"	"14i"	""
"0000695360"	"00025270"	"97"	"2916"	"5"	"2916"	"5"	"c.2916+5G>A"	"r.spl"	"p.?"	"14i"	""
"0000695361"	"00025270"	"97"	"2917"	"-4"	"2917"	"-4"	"c.2917-4A>G"	"r.[=,2917_3111del,2782_3111del,2782_3294del]"	"p.?"	"14i"	""
"0000695362"	"00025270"	"97"	"3111"	"4"	"3111"	"4"	"c.3111+4A>C"	"r.spl"	"p.?"	"15i"	""
"0000695363"	"00025270"	"97"	"3112"	"-1"	"3112"	"-1"	"c.3112-1G>A"	"r.spl"	"p.?"	"15i"	""
"0000695364"	"00025270"	"97"	"3112"	"-2"	"3112"	"-2"	"c.3112-2A>C"	"r.spl"	"p.?"	"15i"	""
"0000695365"	"00025270"	"97"	"3112"	"-2"	"3112"	"-2"	"c.3112-2A>G"	"r.spl"	"p.?"	"15i"	""
"0000695366"	"00025270"	"97"	"3294"	"1"	"3294"	"1"	"c.3294+1G>C"	"r.spl"	"p.?"	"16i"	""
"0000695367"	"00025270"	"97"	"3294"	"2"	"3294"	"2"	"c.3294+2T>C"	"r.3112_3294del"	"p.?"	"16i"	"Phosphorylation D lacking"
"0000695368"	"00025270"	"97"	"3294"	"2"	"3294"	"2"	"c.3294+2T>C"	"r.spl"	"p.?"	"16i"	""
"0000695369"	"00025270"	"97"	"3511"	"1"	"3511"	"1"	"c.3511+1G>A"	"r.spl"	"p.?"	"17i"	""
"0000695370"	"00025270"	"97"	"3511"	"5"	"3511"	"5"	"c.3511+5G>A"	"r.[=,3295_3511del]"	"p.?"	"17i"	""
"0000695371"	"00025270"	"97"	"3658"	"1"	"3658"	"1"	"c.3658+1del"	"r.spl"	"p.?"	"18i"	""
"0000695372"	"00025270"	"97"	"3801"	"1"	"3801"	"1"	"c.3801+1G>T"	"r.spl"	"p.?"	"19i"	""
"0000695373"	"00025270"	"97"	"3801"	"3"	"3801"	"3"	"c.3801+3A>C"	"r.spl"	"p.?"	"19i"	""
"0000695374"	"00025270"	"97"	"3801"	"4"	"3801"	"4"	"c.3801+4A>G"	"r.spl"	"p.?"	"19i"	""
"0000695375"	"00025270"	"97"	"4005"	"1"	"4005"	"1"	"c.4005+1G>T"	"r.spl"	"p.?"	"20i"	""
"0000695376"	"00025270"	"97"	"4005"	"5"	"4005"	"5"	"c.4005+5G>A"	"r.spl"	"p.?"	"20i"	""
"0000695377"	"00025270"	"97"	"4006"	"-2"	"4006"	"-2"	"c.4006-2A>G"	"r.[=,4006_4123del]"	"p.?"	"20i"	""
"0000695378"	"00025270"	"97"	"4123"	"1"	"4123"	"1"	"c.4123+1G>A"	"r.spl"	"p.?"	"21i"	""
"0000695379"	"00025270"	"97"	"4123"	"3"	"4123"	"3"	"c.4123+3A>T"	"r.[=,4006_4123del]"	"p.?"	"21i"	""
"0000695380"	"00025270"	"97"	"4123"	"3"	"4123"	"3"	"c.4123+3A>T"	"r.spl"	"p.?"	"21i"	""
"0000695381"	"00025270"	"97"	"4123"	"5"	"4123"	"5"	"c.4123+5G>A"	"r.spl"	"p.?"	"21i"	""
"0000695382"	"00025270"	"97"	"4226"	"1"	"4226"	"1"	"c.4226+1G>A"	"r.4124_4226del"	"p.?"	"22i"	""
"0000695383"	"00025270"	"97"	"4226"	"2"	"4226"	"2"	"c.4226+2T>C"	"r.4124_4226del"	"p.?"	"22i"	""
"0000695384"	"00025270"	"97"	"4226"	"5"	"4226"	"5"	"c.4226+5G>A"	"r.4124_4226del"	"p.?"	"22i"	""
"0000695385"	"00025270"	"97"	"4226"	"6"	"4226"	"6"	"c.4226+6T>C"	"r.(?)"	"p.="	"22i"	""
"0000695386"	"00025270"	"97"	"121"	"-1"	"1543"	"1"	"c.(120+1_121-1)_(1543+1_1544-1)dup"	"r.121_1543dup"	"p.?"	"2i_5i"	""
"0000695387"	"00025270"	"97"	"-21"	"-1"	"2916"	"1"	"c.(-22+1_-21-1)_(2916+1_2917-1)dup"	"r.?"	"p.?"	"1i_14i"	""
"0000695388"	"00025270"	"97"	"1870"	"-1"	"2626"	"1"	"c.(1869+1_1870-1)_(2626+1_2627-1)dup"	"r.1870_2626dup"	"p.?"	"7i_12i"	""
"0000695389"	"00025270"	"97"	"1870"	"-1"	"3511"	"1"	"c.(1869+1_1870-1)_(3511+1_3512-1)dup"	"r.1870_3511dup"	"p.?"	"7i_17i"	""
"0000695390"	"00025270"	"97"	"-160"	"0"	"-22"	"0"	"c.-160_(-22+1_-21-1){0}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000695391"	"00025270"	"97"	"-160"	"0"	"-22"	"0"	"c.-160_(-22+1_-21-1){0}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000695392"	"00025270"	"97"	"-160"	"0"	"-22"	"0"	"c.-160_(-22+1_-21-1){0}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000695393"	"00025270"	"97"	"-160"	"0"	"-22"	"0"	"c.-160_(-22+1_-21-1){0}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000695394"	"00025270"	"97"	"-160"	"0"	"-22"	"0"	"c.-160_(-22+1_-21-1){0}"	"r.0?"	"p.0?"	"_1_1i"	""
"0000695395"	"00025270"	"97"	"-21"	"-1"	"1707"	"1"	"c.(-22+1_-21-1)_(1707+1_1708-1)del"	"r.?"	"p.?"	"1i_6i"	""
"0000695396"	"00025270"	"97"	"-21"	"-1"	"1707"	"1"	"c.(-22+1_-21-1)_(1707+1_1708-1)del"	"r.?"	"p.?"	"1i_6i"	""
"0000695397"	"00025270"	"97"	"-21"	"-1"	"1707"	"1"	"c.(-22+1_-21-1)_(1707+1_1708-1)del"	"r.?"	"p.?"	"1i_6i"	""
"0000695398"	"00025270"	"97"	"-21"	"-1"	"2172"	"1"	"c.(-22+1_-21-1)_(2172+1_2173-1)del"	"r.?"	"p.?"	"1i_9i"	""
"0000695399"	"00025270"	"97"	"-21"	"-1"	"2916"	"1"	"c.(-22+1_-21-1)_(2916+1_2917-1)del"	"r.?"	"p.?"	"1i_14i"	""
"0000695400"	"00025270"	"97"	"-21"	"-1"	"3111"	"1"	"c.(-22+1_-21-1)_(3111+1_3112-1)del"	"r.?"	"p.?"	"1i_15i"	""
"0000695401"	"00025270"	"97"	"-21"	"-1"	"3511"	"1"	"c.(-22+1_-21-1)_(3511+1_3512-1)del"	"r.?"	"p.?"	"1i_17i"	""
"0000695402"	"00025270"	"97"	"-21"	"-1"	"3658"	"1"	"c.(-22+1_-21-1)_(3658+1_3659-1)del"	"r.?"	"p.?"	"1i_18i"	""
"0000695403"	"00025270"	"97"	"121"	"-1"	"1336"	"1"	"c.(120+1_121-1)_(1336+1_1337-1)del"	"r.121_1336del"	"p.?"	"2i_4i"	""
"0000695404"	"00025270"	"97"	"121"	"-1"	"1336"	"1"	"c.(120+1_121-1)_(1336+1_1337-1)del"	"r.?"	"p.?"	"2i_4i"	""
"0000695405"	"00025270"	"97"	"121"	"-1"	"2406"	"1"	"c.(120+1_121-1)_(2406+1_2407-1)del"	"r.?"	"p.?"	"2i_10i"	""
"0000695406"	"00025270"	"97"	"121"	"-1"	"2406"	"1"	"c.(120+1_121-1)_(2406+1_2407-1)del"	"r.?"	"p.?"	"2i_10i"	""
"0000695407"	"00025270"	"97"	"121"	"-1"	"3294"	"1"	"c.(120+1_121-1)_(3294+1_3295-1)del"	"r.121_3294del"	"p.?"	"2i_16i"	""
"0000695408"	"00025270"	"97"	"121"	"-1"	"4005"	"1"	"c.(120+1_121-1)_(4005+1_4006-1)del"	"r.?"	"p.?"	"2i_20i"	""
"0000695409"	"00025270"	"97"	"121"	"0"	"8328"	"5"	"c.(120+1_121-1)_*3825{0}"	"r.?"	"p.?"	"2i_23_"	""
"0000695410"	"00025270"	"97"	"121"	"0"	"8328"	"5"	"c.(120+1_121-1)_*3825{0}"	"r.?"	"p.?"	"2i_23_"	""
"0000695411"	"00025270"	"97"	"121"	"0"	"8328"	"5"	"c.(120+1_121-1)_*3825{0}"	"r.?"	"p.?"	"2i_23_"	""
"0000695412"	"00025270"	"97"	"121"	"0"	"8328"	"5"	"c.(120+1_121-1)_*3825{0}"	"r.?"	"p.?"	"2i_23_"	""
"0000695413"	"00025270"	"97"	"611"	"-1"	"1336"	"1"	"c.(610+1_611-1)_(1336+1_1337-1)del"	"r.?"	"p.?"	"3i_4i"	""
"0000695414"	"00025270"	"97"	"1337"	"-1"	"1869"	"1"	"c.(1336+1_1337-1)_(1869+1_1870-1)del"	"r.[1337_1869del,1337_1946del]"	"p.?"	"4i_7i"	""
"0000695415"	"00025270"	"97"	"1337"	"-1"	"1869"	"1"	"c.(1336+1_1337-1)_(1869+1_1870-1)del"	"r.[1337_1869del,1337_1946del]"	"p.?"	"4i_8i"	""
"0000695416"	"00025270"	"97"	"1337"	"-1"	"2626"	"1"	"c.(1336+1_1337-1)_(2626+1_2627-1)del"	"r.1337_2626del"	"p.?"	"4i_12i"	""
"0000695417"	"00025270"	"97"	"1337"	"-1"	"3658"	"1"	"c.(1336+1_1337-1)_(3658+1_3659-1)del"	"r.?"	"p.?"	"4i_18i"	""
"0000695418"	"00025270"	"97"	"1337"	"0"	"5729"	"0"	"c.(1336+1_1337-1)_*3825{0}"	"r.?"	"p.?"	"4i_23_"	""
"0000695419"	"00025270"	"97"	"1544"	"-1"	"1707"	"1"	"c.(1543+1_1544-1)_(1707+1_1708-1)del"	"r.?"	"p.?"	"5i_6i"	""
"0000695420"	"00025270"	"97"	"1544"	"-1"	"1707"	"1"	"c.(1543+1_1544-1)_(1707+1_1708-1)del"	"r.?"	"p.?"	"5i_6i"	""
"0000695421"	"00025270"	"97"	"1544"	"-1"	"1869"	"1"	"c.(1543+1_1544-1)_(1869+1_1870-1)del"	"r.1554_1869del"	"p.?"	"5i_7i"	""
"0000695422"	"00025270"	"97"	"1544"	"-1"	"2172"	"1"	"c.(1543+1_1544-1)_(2172+1_2173-1)del"	"r.?"	"p.?"	"5i_9i"	""
"0000695423"	"00025270"	"97"	"1544"	"-1"	"2172"	"1"	"c.(1543+1_1544-1)_(2172+1_2173-1)del"	"r.1554_2172del"	"p.?"	"5i_9i"	""
"0000695424"	"00025270"	"97"	"1544"	"-1"	"2626"	"1"	"c.(1543+1_1544-1)_(2626+1_2627-1)del"	"r.1554_2626del"	"p.?"	"5i_12i"	""
"0000695425"	"00025270"	"97"	"1544"	"-1"	"2626"	"1"	"c.(1543+1_1544-1)_(2626+1_2627-1)del"	"r.1554_2626del"	"p.?"	"5i_12i"	""
"0000695426"	"00025270"	"97"	"1544"	"-1"	"2916"	"1"	"c.(1543+1_1544-1)_(2916+1_2917-1)del"	"r.?"	"p.?"	"5i_14i"	""
"0000695427"	"00025270"	"97"	"1544"	"0"	"8328"	"5"	"c.(1543+1_1544-1)_*3825{0}"	"r.?"	"p.?"	"5i_23_"	""
"0000695428"	"00025270"	"97"	"1708"	"-1"	"3511"	"1"	"c.(1707+1_1708-1)_(3511+1_3512-1)del"	"r.1708_3511del"	"p.?"	"6i_17i"	""
"0000695429"	"00025270"	"97"	"1708"	"-1"	"3801"	"1"	"c.(1707+1_1708-1)_(3801+1_3802-1)del"	"r.1708_3801del"	"p.?"	"6i_19i"	""
"0000695430"	"00025270"	"97"	"1708"	"-1"	"3801"	"1"	"c.(1707+1_1708-1)_(3801+1_3802-1)del"	"r.?"	"p.?"	"6i_19i"	""
"0000695431"	"00025270"	"97"	"1708"	"-1"	"3801"	"1"	"c.(1707+1_1708-1)_(3801+1_3802-1)del"	"r.?"	"p.?"	"6i_19i"	""
"0000695432"	"00025270"	"97"	"1870"	"-1"	"2916"	"1"	"c.(1869+1_1870-1)_(2916+1_2917-1)del"	"r.1870_2916del"	"p.?"	"7i_14i"	""
"0000695433"	"00025270"	"97"	"1870"	"-1"	"2916"	"1"	"c.(1869+1_1870-1)_(2916+1_2917-1)del"	"r.?"	"p.?"	"7i_14i"	""
"0000695434"	"00025270"	"97"	"1870"	"-1"	"3111"	"1"	"c.(1869+1_1870-1)_(3111+1_3112-1)del"	"r.?"	"p.?"	"7i_15i"	""
"0000695435"	"00025270"	"97"	"1947"	"-1"	"2172"	"1"	"c.(1946+1_1947-1)_(2172+1_2173-1)del"	"r.1947_2172del"	"p.?"	"8i_9i"	""
"0000695436"	"00025270"	"97"	"2173"	"-1"	"2916"	"1"	"c.(2172+1_2173-1)_(2916+1_2917-1)del"	"r.2173_2916del"	"p.?"	"9i_14i"	""
"0000695437"	"00025270"	"97"	"2173"	"0"	"8328"	"5"	"c.(2172+1_2173-1)_*3825{0}"	"r.?"	"p.?"	"9i_23_"	""
"0000695438"	"00025270"	"97"	"2407"	"0"	"8328"	"5"	"c.(2406+1_2407-1)_*3825{0}"	"r.?"	"p.?"	"10i_23_"	""
"0000695439"	"00025270"	"97"	"2499"	"-1"	"3111"	"1"	"c.(2498+1_2499-1)_(3111+1_3112-1)del"	"r.?"	"p.?"	"11i_15i"	""
"0000695440"	"00025270"	"97"	"2499"	"0"	"8328"	"5"	"c.(2498+1_2499-1)_*3825{0}"	"r.?"	"p.?"	"11i_23_"	""
"0000695441"	"00025270"	"97"	"2627"	"-1"	"2916"	"1"	"c.(2626+1_2627-1)_(2916+1_2917-1)del"	"r.?"	"p.?"	"12i_14i"	""
"0000695442"	"00025270"	"97"	"2627"	"-1"	"2916"	"1"	"c.(2626+1_2627-1)_(2916+1_2917-1)del"	"r.?"	"p.?"	"12i_14i"	""
"0000695443"	"00025270"	"97"	"2627"	"-1"	"3511"	"1"	"c.(2626+1_2627-1)_(3511+1_3512-1)del"	"r.2627_3511del"	"p.?"	"12i_17i"	""
"0000695444"	"00025270"	"97"	"2627"	"-1"	"4123"	"1"	"c.(2626+1_2627-1)_(4123+1_4124-1)del"	"r.2627_4123del"	"p.?"	"12i_21i"	""
"0000695445"	"00025270"	"97"	"2917"	"-1"	"3294"	"1"	"c.(2916+1_2917-1)_(3294+1_3295-1)del"	"r.2917_3294del"	"p.?"	"14i_16i"	""
"0000695446"	"00025270"	"97"	"2917"	"-1"	"3511"	"1"	"c.(2916+1_2917-1)_(3511+1_3512-1)del"	"r.2917_3511del"	"p.?"	"14i_17i"	""
"0000695447"	"00025270"	"97"	"2917"	"0"	"8328"	"5"	"c.(2916+1_2917-1)_*3825{0}"	"r.?"	"p.?"	"14i_23_"	""
"0000695448"	"00025270"	"97"	"2917"	"0"	"8328"	"5"	"c.(2916+1_2917-1)_*3825{0}"	"r.?"	"p.?"	"14i_23_"	""
"0000695449"	"00025270"	"97"	"2917"	"0"	"8328"	"5"	"c.(2916+1_2917-1)_*3825{0}"	"r.?"	"p.?"	"14i_23_"	""
"0000695450"	"00025270"	"97"	"3295"	"-1"	"3658"	"1"	"c.(3294+1_3295-1)_(3658+1_3659-1)del"	"r.?"	"p.?"	"16i_18i"	""
"0000695451"	"00025270"	"97"	"3512"	"-1"	"4005"	"1"	"c.(3511+1_3512-1)_(4005+1_4006-1)del"	"r.?"	"p.?"	"17i_20i"	""
"0000695452"	"00025270"	"97"	"3659"	"0"	"5729"	"0"	"c.(3658+1_3659-1)_*3825{0}"	"r.?"	"p.?"	"18i_23_"	""
"0000695453"	"00025270"	"97"	"3802"	"0"	"8328"	"5"	"c.(3801+1_3802-1)_*3825{0}"	"r.?"	"p.?"	"19i_23_"	""
"0000695454"	"00025270"	"97"	"3802"	"0"	"8328"	"5"	"c.(3801+1_3802-1)_*3825{0}"	"r.?"	"p.?"	"19i_23_"	""
"0000695455"	"00025270"	"97"	"4006"	"-1"	"4123"	"1"	"c.(4005+1_4006-1)_(4123+1_4124-1)del"	"r.4006_4123del"	"p.?"	"20i_21i"	""
"0000695456"	"00025270"	"97"	"4124"	"0"	"5729"	"0"	"c.(4123+1_4124-1)_*3825{0}"	"r.?"	"p.?"	"21i_23_"	""
"0000695457"	"00025270"	"97"	"4124"	"0"	"4500"	"0"	"c.(4123+1_4124-1)_*3825{0}"	"r.?"	"p.?"	"21i_23_"	""
"0000695458"	"00025270"	"97"	"4124"	"0"	"4500"	"0"	"c.(4123+1_4124-1)_*3825{0}"	"r.?"	"p.?"	"21i_23_"	""
"0000695459"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000695460"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000695461"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000695462"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000695463"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000695464"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000695465"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000695466"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695467"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695468"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695469"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695470"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695471"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695472"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695473"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695474"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695475"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695476"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695477"	"00025270"	"13"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000695478"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695479"	"00025270"	"13"	"0"	"0"	"0"	"0"	"-"	"r.(=)"	"p.(=)"	"_1"	""
"0000695480"	"00025270"	"13"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""	""
"0000695481"	"00025270"	"13"	"-55"	"0"	"-55"	"0"	"c.-55C>T"	"r.(?)"	"p.(=)"	"1"	""
"0000695482"	"00025270"	"13"	"0"	"0"	"0"	"0"	"c.121-796GT[16_25]"	"r.(?)"	"p.(=)"	"2i"	""
"0000695483"	"00025270"	"13"	"327"	"0"	"327"	"0"	"c.327G>A"	"r.(?)"	"p.(Lys109=)"	"3"	""
"0000695484"	"00025270"	"13"	"1007"	"0"	"1007"	"0"	"c.1007A>T"	"r.(?)"	"p.(Glu336Val)"	"4"	""
"0000695485"	"00025270"	"13"	"1299"	"0"	"1299"	"0"	"c.1299A>T"	"r.(?)"	"p.(Gly433=)"	"4"	""
"0000695486"	"00025270"	"13"	"0"	"0"	"0"	"0"	"c.1544-272CA[19_24]"	"r.(?)"	"p.(=)"	"5i"	""
"0000695487"	"00025270"	"13"	"1387"	"0"	"1387"	"0"	"c.1387C>T"	"r.(?)"	"p.(Leu463Phe)"	"5"	""
"0000695488"	"00025270"	"13"	"1870"	"-25"	"1870"	"-25"	"c.1870-25A>C"	"r.spl?"	"p(=)"	"7i"	""
"0000695489"	"00025270"	"13"	"2006"	"0"	"2006"	"0"	"c.2006T>C"	"r.(?)"	"p.(Ile669Thr)"	"9"	""
"0000695490"	"00025270"	"13"	"2106"	"0"	"2106"	"0"	"c.2106G>T"	"r.(?)"	"p.(Glu702Asp)"	"9"	""
"0000695491"	"00025270"	"13"	"2108"	"0"	"2108"	"0"	"c.2108G>A"	"r.(?)"	"p.(Arg703His)"	"9"	""
"0000695492"	"00025270"	"13"	"2299"	"0"	"2299"	"0"	"c.2299G>C"	"r.(?)"	"p.(Val767Leu)"	"10"	""
"0000695493"	"00025270"	"13"	"2626"	"7"	"2626"	"7"	"c.2626+7T>G"	"r.(?)"	"p.="	"12i"	""
"0000695494"	"00025270"	"13"	"2782"	"-29"	"2782"	"-29"	"c.2782-29C>A"	"r.(?)"	"p.(=)"	"13i"	""
"0000695495"	"00025270"	"13"	"3512"	"-10"	"3512"	"-10"	"c.3512-10C>A"	"r.(?)"	"p.(=)"	"17i"	""
"0000695496"	"00025270"	"13"	"3532"	"0"	"3532"	"0"	"c.3532T>C"	"r.(?)"	"p.(Tyr1178His)"	"18"	""
"0000695497"	"00025270"	"13"	"3659"	"-8"	"3659"	"-8"	"c.3659-8T>G"	"r.(=)"	"p.(=)"	"18i"	""
"0000695498"	"00025270"	"13"	"4226"	"11"	"4226"	"11"	"c.4226+11T>C"	"r.(?)"	"p.="	"22i"	""
"0000695499"	"00025270"	"13"	"4226"	"48"	"4226"	"48"	"c.4226+48A>G"	"r.(?)"	"p.="	"22i"	""
"0000695500"	"00025270"	"13"	"4390"	"0"	"4390"	"0"	"c.4390A>G"	"r.(?)"	"p.(Ile1464Val)"	"23"	""
"0000695501"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.(-160_(-22+1_-21-1){0})"	"r.0"	"p.0"	"_1_1i"	""
"0000695502"	"00025270"	"97"	"1519"	"0"	"1519"	"0"	"c.(1519G>T)"	"r.(?)"	"p.(Glu507*)"	"5"	""
"0000695503"	"00025270"	"97"	"1475"	"0"	"1475"	"0"	"c.(1475T>C)"	"r.(?)"	"p.(Ile492Thr)"	"5"	""
"0000695504"	"00025270"	"97"	"2180"	"0"	"2181"	"0"	"c.(2180_2181ins(81))"	"r.spl"	"p.?"	"10"	""
"0000695505"	"00025270"	"97"	"2423"	"0"	"2428"	"0"	"c.(2423_2428del)"	"r.(?)"	"p.?"	"11"	""
"0000695506"	"00025270"	"97"	"2498"	"3"	"2498"	"3"	"c.(2498+3A>C)"	"r.spl"	"p.?"	"11i"	""
"0000695507"	"00025270"	"97"	"2407"	"-1"	"2916"	"1"	"c.((2406+1_2407-1)_(2916+1_2917-1)del)"	"r.(?)"	"p.?"	"10i_14i"	""
"0000695508"	"00025270"	"97"	"2916"	"1"	"2916"	"1"	"c.(2916+1G>A)"	"r.spl"	"p.?"	"14i"	""
"0000695509"	"00025270"	"97"	"3009"	"0"	"3009"	"0"	"c.(3009G>A)"	"r.(?)"	"p.(Ala1007Thr)"	"15"	""
"0000695510"	"00025270"	"97"	"3010"	"0"	"3010"	"0"	"c.(3010C>T)"	"r.(?)"	"p.(Ala1007Val)"	"15"	""
"0000695511"	"00025270"	"97"	"3134"	"0"	"3134"	"0"	"c.(3134A>C)"	"r.(?)"	"p.(Lys1045Thr)"	"16"	""
"0000695512"	"00025270"	"97"	"4118"	"0"	"4118"	"0"	"c.(4118C>A)"	"r.(?)"	"p.(Ala1373Asp)"	"21"	""
"0000695513"	"00025270"	"97"	"4168"	"0"	"4168"	"0"	"c.(4168T>C)"	"r.(?)"	"p.(Ser1390Pro)"	"22"	""
"0000695514"	"00025270"	"97"	"4227"	"-1"	"5603"	"0"	"c.((4226+1_4227-1)_(*1100_*1400)del)"	"r.?"	"p.?"	"22i_23_"	""
"0000695515"	"00025270"	"97"	"0"	"0"	"0"	"0"	"c.(?)"	"r.(?)"	"p.="	"8i"	""
"0000695516"	"00025270"	"97"	"3218"	"0"	"3218"	"0"	"c.(3218T>G)"	"r.(?)"	"p.(Ile1073Ser)"	"16"	""
"0000695517"	"00025270"	"97"	"3998"	"0"	"3998"	"0"	"c.(3998T>G)"	"r.(?)"	"p.(Leu1333Arg)"	"20"	""
"0000695518"	"00025270"	"97"	"521"	"0"	"521"	"0"	"c.521del"	"r.(?)"	"p.(Lys174Argfs*2)"	"3"	""
"0000695519"	"00025270"	"97"	"659"	"0"	"666"	"0"	"c.659_666del"	"r.(?)"	"p.(Ile220Argfs*8)"	"4"	""
"0000695520"	"00025270"	"97"	"693"	"0"	"693"	"0"	"c.693del"	"r.(?)"	"p.(Met232Trpfs*21)"	"4"	""
"0000695521"	"00025270"	"97"	"1189"	"0"	"1192"	"0"	"c.1189_1192del"	"r.(?)"	"p.(Gly397Serfs*8)"	"4"	""
"0000695522"	"00025270"	"97"	"1748"	"0"	"1749"	"0"	"c.1748_1749del"	"r.(?)"	"p.(Glu583Valfs*2)"	"7"	""
"0000695523"	"00025270"	"97"	"1856"	"0"	"1856"	"0"	"c.1856dup"	"r.(?)"	"p.(His620Profs*4)"	"7"	""
"0000695524"	"00025270"	"97"	"2354"	"0"	"2354"	"0"	"c.2354dup"	"r.(?)"	"p.(Met786Tyrfs*41)"	"10"	""
"0000695525"	"00025270"	"97"	"3055"	"0"	"3056"	"0"	"c.3055_3056delinsTTAGTA"	"r.(?)"	"p.(Gly1019Leufs*20)"	"15"	""
"0000695526"	"00025270"	"97"	"3065"	"0"	"3065"	"0"	"c.3065del"	"r.(?)"	"p.(Asn1022Metfs*4)"	"15"	""
"0000695527"	"00025270"	"97"	"4057"	"0"	"4058"	"0"	"c.4057_4058dup"	"r.(?)"	"p.(Ile1355Glyfs*4)"	"21"	""
"0000695528"	"00025270"	"97"	"4167"	"0"	"4167"	"0"	"c.4167del"	"r.(?)"	"p.(Ser1390Leufs*11)"	"22"	""
"0000695529"	"00025270"	"97"	"4200"	"0"	"4226"	"20"	"c.4200_4226+20delinsTTCTGTAGTACAGAA"	"r.(?)"	"p.(Ser1399Leufs*10)"	"22_22i"	""
"0000695530"	"00025270"	"97"	"532"	"0"	"532"	"0"	"c.532G>T"	"r.(?)"	"p.(Glu178*)"	"3"	""
"0000695531"	"00025270"	"97"	"1225"	"0"	"1225"	"0"	"c.1225C>T"	"r.(?)"	"p.(Arg409*)"	"4"	""
"0000695532"	"00025270"	"97"	"1225"	"0"	"1225"	"0"	"c.1225C>T"	"r.(?)"	"p.(Arg409*)"	"4"	""
"0000695533"	"00025270"	"97"	"1639"	"0"	"1639"	"0"	"c.1639C>T"	"r.(?)"	"p.(Arg547*)"	"6"	""
"0000695534"	"00025270"	"97"	"1734"	"0"	"1734"	"0"	"c.1734C>A"	"r.(?)"	"p.(Cys578*)"	"7"	""
"0000695535"	"00025270"	"97"	"1933"	"0"	"1933"	"0"	"c.1933C>T"	"r.(?)"	"p.(Arg645*)"	"8"	""
"0000695536"	"00025270"	"97"	"2170"	"0"	"2170"	"0"	"c.2170C>T"	"r.(?)"	"p.(Gln724*)"	"9"	""
"0000695537"	"00025270"	"97"	"2187"	"0"	"2187"	"0"	"c.2187G>A"	"r.(?)"	"p.(Trp729*)"	"10"	""
"0000695538"	"00025270"	"97"	"2518"	"0"	"2518"	"0"	"c.2518G>T"	"r.(?)"	"p.(Glu840*)"	"12"	""
"0000695539"	"00025270"	"97"	"1903"	"0"	"1903"	"0"	"c.1903G>C"	"r.(?)"	"p.(Asp635His)"	"8"	""
"0000695540"	"00025270"	"97"	"1958"	"0"	"1958"	"0"	"c.1958C>T"	"r.(?)"	"p.(Ser653Phe)"	"9"	""
"0000695541"	"00025270"	"97"	"1996"	"0"	"1996"	"0"	"c.1996G>C"	"r.(?)"	"p.(Gly666Arg)"	"9"	""
"0000695542"	"00025270"	"97"	"1946"	"1"	"1946"	"1"	"c.1946+1G>C"	"r.spl"	"p.?"	"8i"	""
"0000695543"	"00025270"	"97"	"1946"	"5"	"1946"	"5"	"c.1946+5G>C"	"r.spl?"	"p.?"	"8i"	""
"0000695544"	"00025270"	"97"	"1946"	"5"	"1946"	"5"	"c.1946+5G>C"	"r.1870_1946del"	"p.?"	"8i"	""
"0000695545"	"00025270"	"35"	"327"	"0"	"327"	"0"	"c.327G>A"	"r.(?)"	"p.(Lys109=)"	"3"	""
"0000695546"	"00025270"	"55"	"1009"	"0"	"1009"	"0"	"c.1009G>A"	"r.(?)"	"p.(Ala337Thr)"	"4"	""
"0000695547"	"00025270"	"55"	"2299"	"0"	"2299"	"0"	"c.2299G>C"	"r.(?)"	"p.(Val767Leu)"	"10"	""
"0000695548"	"00025270"	"97"	"4005"	"5"	"4005"	"5"	"c.4005+5G>A"	"r.spl"	"p.?"	"20i"	""
"0000695549"	"00025270"	"97"	"2284"	"0"	"2285"	"0"	"c.2284_2285del"	"r.(?)"	"p.(Leu762Aspfs*9)"	"10"	""
"0000695550"	"00025270"	"97"	"2343"	"0"	"2344"	"0"	"c.2343_2344insA"	"r.(?)"	"p.(Asp782Argfs*45)"	"10"	""
"0000695551"	"00025270"	"97"	"2172"	"8"	"2172"	"12"	"c.2172+8_2172+12dup"	"r.spl?"	"p.?"	"9i"	""
"0000695552"	"00025270"	"97"	"1329"	"0"	"1329"	"0"	"c.1329del"	"r.(?)"	"p.(Leu444Cysfs*9)"	"4"	""
"0000695553"	"00025270"	"97"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	""
"0000695554"	"00025270"	"97"	"2383"	"0"	"2383"	"0"	"c.2383C>T"	"r.(?)"	"p.(Arg795*)"	"10"	""
"0000695555"	"00025270"	"97"	"121"	"-1"	"1336"	"1"	"c.(120+1_121-1)_(1336+1_1337-1)dup"	"r.[=,121_1336dup,611_1336dup]"	"p.?"	"2i_4i"	""
"0000695556"	"00025270"	"97"	"1337"	"-1"	"1707"	"1"	"c.(1336+1_1337-1)_(1707+1_1708-1)dup"	"r.[=,1337_1707dup]"	"p.?"	"4i_6i"	""
"0000695557"	"00025270"	"97"	"1544"	"-1"	"1869"	"1"	"c.(1543+1_1544-1)_(1869+1_1870-1)dup"	"r.[=,1544_1869dup,1544_1707dup]"	"p.?"	"5i_7i"	""
"0000695558"	"00025270"	"97"	"2627"	"-1"	"2916"	"1"	"c.(2626+1_2627-1)_(2916+1_2917-1)dup"	"r.[=,2627_2916dup,2782_2916dup]"	"p.?"	"12i_14i"	""
"0000695559"	"00025270"	"97"	"3112"	"-1"	"3511"	"1"	"c.(3111+1_3112-1)_(3511+1_3512-1)dup"	"r.[=,3112_3511dup,3112_3294dup]"	"p.?"	"15i_17i"	""
"0000695560"	"00025270"	"97"	"1544"	"-1"	"1869"	"1"	"c.(1543+1_1544-1)_(1869+1_1870-1)dup"	"r.?"	"p.?"	"5i_7i"	""
"0000695561"	"00025270"	"97"	"121"	"-1"	"1543"	"1"	"c.(120+1_121-1)_(1543+1_1544-1)dup"	"r.[121_1543dup,1337_1543dup]"	"p.?"	"2i_5i"	""
"0000695562"	"00025270"	"97"	"1337"	"-1"	"1869"	"1"	"c.(1336+1_1337-1)_(1869+1_1870-1)dup"	"r.[=,1337_1869dup]"	"p.?"	"4i_7i"	""
"0000695563"	"00025270"	"97"	"121"	"-1"	"2781"	"1"	"c.(120+1_121-1)_(2781+1_2782-1)dup"	"r.?"	"p.?"	"2i_13i"	""
"0000695564"	"00025270"	"97"	"121"	"-1"	"3511"	"1"	"c.(120+1_121-1)_(3511+1_3512-1)dup"	"r.?"	"p.?"	"2i_17i"	""
"0000695565"	"00025270"	"97"	"1544"	"-1"	"3111"	"1"	"c.(1543+1_1544-1)_(3111+1_3112-1)dup"	"r.?"	"p.?"	"5i_15i"	""
"0000695566"	"00025270"	"97"	"1708"	"-1"	"2406"	"1"	"c.(1707+1_1708-1)_(2406+1_2407-1)dup"	"r.?"	"p.?"	"6i_10i"	""
"0000695567"	"00025270"	"97"	"1708"	"-1"	"2626"	"1"	"c.(1707+1_1708-1)_(2626+1_2627-1)dup"	"r.[=,1708_2626dup,1870_2406dup]"	"p.?"	"6i_12i"	""
"0000695568"	"00025270"	"97"	"1708"	"-1"	"2626"	"1"	"c.(1707+1_1708-1)_(2626+1_2627-1)dup"	"r.?"	"p.?"	"6i_12i"	""
"0000695569"	"00025270"	"97"	"1708"	"-1"	"2916"	"1"	"c.(1707+1_1708-1)_(2916+1_2917-1)dup"	"r.?"	"p.?"	"6i_14i"	""
"0000695570"	"00025270"	"97"	"1870"	"-1"	"2626"	"1"	"c.(1869+1_1870-1)_(2626+1_2627-1)dup"	"r.[=,1870_2626dup,1870_2406dup,2173_2406dup]"	"p.?"	"7i_12i"	""
"0000695571"	"00025270"	"97"	"1870"	"-1"	"2626"	"1"	"c.(1869+1_1870-1)_(2626+1_2627-1)dup"	"r.?"	"p.?"	"7i_12i"	""
"0000695572"	"00025270"	"97"	"1870"	"-1"	"2916"	"1"	"c.(1869+1_1870-1)_(2916+1_2917-1)dup"	"r.?"	"p.?"	"7i_14i"	""
"0000695573"	"00025270"	"97"	"1870"	"-1"	"3111"	"1"	"c.(1869+1_1870-1)_(3111+1_3112-1)dup"	"r.?"	"p.?"	"7i_15i"	""
"0000695574"	"00025270"	"97"	"1870"	"-1"	"3511"	"1"	"c.(1869+1_1870-1)_(3511+1_3512-1)dup"	"r.?"	"p.?"	"7i_17i"	""
"0000695575"	"00025270"	"55"	"1883"	"0"	"1883"	"0"	"c.1883A>T"	"r.(?)"	"p.(Glu628Val)"	"8"	""
"0000695576"	"00025270"	"55"	"1898"	"0"	"1898"	"0"	"c.1898A>G"	"r.(?)"	"p.(Lys633Arg)"	"8"	""
"0000695577"	"00025270"	"55"	"1958"	"0"	"1958"	"0"	"c.1958C>A"	"r.(?)"	"p.(Ser653Tyr)"	"8"	""
"0000695578"	"00025270"	"55"	"1971"	"0"	"1971"	"0"	"c.1971T>A"	"r.(?)"	"p.(Ser657Arg)"	"9"	""
"0000695579"	"00025270"	"55"	"2183"	"0"	"2183"	"0"	"c.2183G>A"	"r.(?)"	"p.(Gly728Asp)"	"10"	""
"0000695580"	"00025270"	"55"	"2281"	"0"	"2281"	"0"	"c.2281T>C"	"r.(?)"	"p.(Ser761Pro)"	"10"	""
"0000695581"	"00025270"	"55"	"2440"	"0"	"2440"	"0"	"c.2440T>C"	"r.(?)"	"p.(Ser814Pro)"	"11"	""
"0000695582"	"00025270"	"55"	"3005"	"0"	"3005"	"0"	"c.3005G>T"	"r.(?)"	"p.(Cys1002Phe)"	"15"	""
"0000695583"	"00025270"	"55"	"3902"	"0"	"3902"	"0"	"c.3902A>G"	"r.(?)"	"p.(Asp1301Gly)"	"20"	""
"0000695584"	"00025270"	"55"	"3905"	"0"	"3905"	"0"	"c.3905G>A"	"r.(?)"	"p.(Gly1302Glu)"	"20"	""
"0000695585"	"00025270"	"55"	"3914"	"0"	"3914"	"0"	"c.3914A>G"	"r.(?)"	"p.(Asp1305Gly)"	"20"	""
"0000695586"	"00025270"	"55"	"3923"	"0"	"3923"	"0"	"c.3923C>A"	"r.(?)"	"p.(Ala1308Asp)"	"20"	""
"0000695587"	"00025270"	"55"	"4117"	"0"	"4117"	"0"	"c.4117G>C"	"r.(?)"	"p.(Ala1373Pro)"	"22"	""
"0000695588"	"00025270"	"55"	"4118"	"0"	"4118"	"0"	"c.4118C>T"	"r.(?)"	"p.(Ala1373Val)"	"22"	""
"0000695589"	"00025270"	"55"	"4238"	"0"	"4238"	"0"	"c.4238C>G"	"r.(?)"	"p.(Pro1413Arg)"	"23"	""
"0000695590"	"00025270"	"77"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	""
"0000695591"	"00025270"	"77"	"2179"	"0"	"2179"	"0"	"c.2179G>A"	"r.(?)"	"p.(Gly727Arg)"	"10"	""
"0000695592"	"00025270"	"77"	"1885"	"0"	"1885"	"0"	"c.1885G>C"	"r.(?)"	"p.(Ala629Pro)"	"8"	""
"0000695593"	"00025270"	"77"	"1946"	"1"	"1946"	"1"	"c.1946+1G>T"	"r.spl"	"p.?"	"8i"	""
"0000695594"	"00025270"	"50"	"2916"	"2408"	"2916"	"2408"	"c.2916+2408T>G"	"r.(?)"	"p.="	"14i"	""
"0000695595"	"00025270"	"50"	"3294"	"763"	"3294"	"763"	"c.3294+763C>G"	"r.(?)"	"p.(=)"	"16i"	""
"0000695596"	"00025270"	"50"	"2407"	"-433"	"2407"	"-433"	"c.2407-433A>G"	"r.2406_2407ins2406+1015_2406+1112"	"p.?"	"10i"	""
"0000729211"	"00025270"	"50"	"673"	"0"	"673"	"0"	"c.673A>G"	"r.(?)"	"p.(Met225Val)"	""	""
"0000729212"	"00025270"	"50"	"961"	"0"	"961"	"0"	"c.961T>C"	"r.(?)"	"p.(Tyr321His)"	""	""
"0000729213"	"00025270"	"50"	"1072"	"0"	"1072"	"0"	"c.1072C>T"	"r.(?)"	"p.(Pro358Ser)"	""	""
"0000729214"	"00025270"	"50"	"1198"	"0"	"1198"	"0"	"c.1198T>A"	"r.(?)"	"p.(Ser400Thr)"	""	""
"0000729215"	"00025270"	"30"	"1749"	"0"	"1749"	"0"	"c.1749G>A"	"r.(?)"	"p.(Glu583=)"	""	""
"0000729216"	"00025270"	"30"	"1788"	"0"	"1788"	"0"	"c.1788C>T"	"r.(?)"	"p.(Ser596=)"	""	""
"0000729217"	"00025270"	"50"	"2251"	"0"	"2251"	"0"	"c.2251G>A"	"r.(?)"	"p.(Val751Met)"	""	""
"0000729218"	"00025270"	"50"	"2824"	"0"	"2824"	"0"	"c.2824G>A"	"r.(?)"	"p.(Val942Ile)"	""	""
"0000729219"	"00025270"	"50"	"4358"	"0"	"4358"	"0"	"c.4358T>A"	"r.(?)"	"p.(Leu1453Gln)"	""	""
"0000810678"	"00025270"	"30"	"-21"	"-2436"	"-21"	"-2436"	"c.-21-2436A>T"	"r.(=)"	"p.(=)"	""	""
"0000810679"	"00025270"	"50"	"-21"	"-2154"	"-21"	"-2154"	"c.-21-2154A>T"	"r.(=)"	"p.(=)"	""	""
"0000810680"	"00025270"	"70"	"2172"	"5"	"2172"	"5"	"c.2172+5G>C"	"r.spl?"	"p.?"	""	""
"0000810681"	"00025270"	"30"	"4330"	"0"	"4330"	"0"	"c.4330T>A"	"r.(?)"	"p.(Ser1444Thr)"	""	""
"0000823310"	"00025270"	"70"	"1974"	"0"	"1977"	"0"	"c.1974_1977del"	"r.(?)"	"p.(Phe659Serfs*5)"	""	""
"0000841162"	"00025270"	"90"	"1708"	"-2"	"1708"	"-2"	"c.1708-2A>G"	"r.spl"	"p.?"	""	""
"0000856805"	"00025270"	"30"	"-21"	"-2696"	"-21"	"-2696"	"c.-21-2696C>T"	"r.(=)"	"p.(=)"	""	""
"0000856806"	"00025270"	"30"	"784"	"0"	"784"	"0"	"c.784T>A"	"r.(?)"	"p.(Ser262Thr)"	""	""
"0000856807"	"00025270"	"50"	"1000"	"0"	"1000"	"0"	"c.1000G>A"	"r.(?)"	"p.(Ala334Thr)"	""	""
"0000856808"	"00025270"	"30"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(?)"	"p.(Arg652Trp)"	""	""
"0000856809"	"00025270"	"30"	"3931"	"0"	"3931"	"0"	"c.3931A>G"	"r.(?)"	"p.(Met1311Val)"	""	""
"0000867573"	"00025270"	"50"	"92"	"0"	"92"	"0"	"c.92G>A"	"r.(?)"	"p.(Gly31Glu)"	""	""
"0000867574"	"00025270"	"70"	"1366"	"0"	"1366"	"0"	"c.1366C>T"	"r.(?)"	"p.(Gln456*)"	""	""
"0000867575"	"00025270"	"30"	"1734"	"0"	"1734"	"0"	"c.1734C>T"	"r.(?)"	"p.(Cys578=)"	""	""
"0000867576"	"00025270"	"50"	"2830"	"0"	"2830"	"0"	"c.2830T>C"	"r.(?)"	"p.(Phe944Leu)"	""	""
"0000867577"	"00025270"	"30"	"2903"	"0"	"2903"	"0"	"c.2903A>G"	"r.(?)"	"p.(Glu968Gly)"	""	""
"0000867578"	"00025270"	"30"	"3117"	"0"	"3117"	"0"	"c.3117G>T"	"r.(?)"	"p.(Lys1039Asn)"	""	""
"0000867579"	"00025270"	"50"	"3556"	"0"	"3556"	"0"	"c.3556G>A"	"r.(?)"	"p.(Glu1186Lys)"	""	""
"0000881184"	"00025270"	"90"	"2383"	"0"	"2383"	"0"	"c.2383C>T"	"r.(?)"	"p.(Arg795Ter)"	""	""
"0000896373"	"00025270"	"30"	"-21"	"-2172"	"-21"	"-2172"	"c.-21-2172T>A"	"r.(=)"	"p.(=)"	""	""
"0000896374"	"00025270"	"30"	"1156"	"0"	"1156"	"0"	"c.1156A>G"	"r.(?)"	"p.(Met386Val)"	""	""
"0000896375"	"00025270"	"50"	"1369"	"0"	"1369"	"0"	"c.1369C>G"	"r.(?)"	"p.(Pro457Ala)"	""	""
"0000896376"	"00025270"	"90"	"1639"	"0"	"1639"	"0"	"c.1639C>T"	"r.(?)"	"p.(Arg547Ter)"	""	""
"0000896377"	"00025270"	"50"	"1987"	"0"	"1987"	"0"	"c.1987C>T"	"r.(?)"	"p.(Pro663Ser)"	""	""
"0000896378"	"00025270"	"30"	"1992"	"0"	"1992"	"0"	"c.1992A>G"	"r.(?)"	"p.(Val664=)"	""	""
"0000896379"	"00025270"	"30"	"3153"	"0"	"3153"	"0"	"c.3153C>T"	"r.(?)"	"p.(His1051=)"	""	""
"0000922449"	"00025270"	"90"	"4110"	"0"	"4115"	"0"	"c.4110_4115del"	"r.4110_4115del"	"p.Pro1371_Ile1372del"	""	""
"0000922736"	"00025270"	"90"	"2617"	"0"	"2626"	"342"	"c.2617_2626+342del"	"r.?"	"p.(Leu873_Gly876del)"	"12_12i"	""
"0000927422"	"00025270"	"50"	"2187"	"0"	"2187"	"0"	"c.2187G>C"	"r.(?)"	"p.(Trp729Cys)"	""	""
"0000927423"	"00025270"	"50"	"2251"	"0"	"2251"	"0"	"c.2251G>A"	"r.(?)"	"p.(Val751Met)"	""	""
"0000931467"	"00025270"	"30"	"-21"	"-2614"	"-21"	"-2614"	"c.-21-2614G>A"	"r.(=)"	"p.(=)"	""	""
"0000951799"	"00025270"	"50"	"2530"	"0"	"2530"	"0"	"c.2530C>T"	"r.(?)"	"p.(Arg844Cys)"	""	""
"0000984866"	"00025270"	"30"	"202"	"0"	"202"	"0"	"c.202G>A"	"r.(?)"	"p.(Asp68Asn)"	""	""
"0000984867"	"00025270"	"30"	"1869"	"516"	"1869"	"516"	"c.1869+516G>A"	"r.(=)"	"p.(=)"	""	""
"0001006977"	"00025270"	"50"	"1060"	"0"	"1060"	"0"	"c.1060A>T"	"r.(?)"	"p.(Thr354Ser)"	""	""
"0001006978"	"00025270"	"50"	"1220"	"0"	"1220"	"0"	"c.1220C>T"	"r.(?)"	"p.(Ser407Phe)"	""	""
"0001006979"	"00025270"	"50"	"2251"	"0"	"2251"	"0"	"c.2251G>A"	"r.(?)"	"p.(Val751Met)"	""	""
"0001006980"	"00025270"	"50"	"3969"	"0"	"3969"	"0"	"c.3969T>A"	"r.(?)"	"p.(Asp1323Glu)"	""	""
"0001006981"	"00025270"	"30"	"4324"	"0"	"4324"	"0"	"c.4324G>A"	"r.(?)"	"p.(Asp1442Asn)"	""	""
"0001044517"	"00025270"	"50"	"743"	"0"	"743"	"0"	"c.743G>C"	"r.(?)"	"p.(Gly248Ala)"	""	""
"0001044518"	"00025270"	"50"	"2666"	"0"	"2666"	"0"	"c.2666T>C"	"r.(?)"	"p.(Val889Ala)"	""	""
"0001044519"	"00025270"	"30"	"3658"	"453"	"3658"	"453"	"c.3658+453C>T"	"r.(=)"	"p.(=)"	""	""
"0001044520"	"00025270"	"10"	"3931"	"0"	"3931"	"0"	"c.3931A>G"	"r.(?)"	"p.(Met1311Val)"	""	""
"0001057372"	"00025270"	"30"	"-22"	"8"	"-22"	"8"	"c.-22+8C>G"	"r.(=)"	"p.(=)"	""	""
"0001057373"	"00025270"	"50"	"520"	"0"	"520"	"0"	"c.520A>C"	"r.(?)"	"p.(Lys174Gln)"	""	""
"0001057374"	"00025270"	"50"	"1588"	"0"	"1588"	"0"	"c.1588G>A"	"r.(?)"	"p.(Val530Ile)"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 464
"{{screeningid}}"	"{{variantid}}"
"0000000040"	"0000001297"
"0000000041"	"0000001299"
"0000000093"	"0000001298"
"0000000108"	"0000001300"
"0000000109"	"0000001301"
"0000000110"	"0000001302"
"0000000209"	"0000002030"
"0000000209"	"0000003064"
"0000000209"	"0000007197"
"0000000209"	"0000007198"
"0000000209"	"0000007199"
"0000000210"	"0000009293"
"0000000210"	"0000009294"
"0000000210"	"0000009295"
"0000000210"	"0000009296"
"0000000210"	"0000011045"
"0000000210"	"0000011046"
"0000000210"	"0000011047"
"0000034915"	"0000062034"
"0000034916"	"0000062035"
"0000034917"	"0000062036"
"0000173230"	"0000393087"
"0000173231"	"0000393088"
"0000184092"	"0000408061"
"0000271040"	"0000624888"
"0000296266"	"0000652955"
"0000296267"	"0000652956"
"0000296268"	"0000652957"
"0000296269"	"0000652958"
"0000297983"	"0000660695"
"0000301150"	"0000664045"
"0000304424"	"0000682823"
"0000313273"	"0000695170"
"0000313274"	"0000695171"
"0000313275"	"0000695172"
"0000313276"	"0000695173"
"0000313277"	"0000695174"
"0000313278"	"0000695175"
"0000313279"	"0000695176"
"0000313280"	"0000695177"
"0000313281"	"0000695178"
"0000313282"	"0000695179"
"0000313283"	"0000695180"
"0000313284"	"0000695181"
"0000313285"	"0000695182"
"0000313286"	"0000695183"
"0000313287"	"0000695184"
"0000313288"	"0000695185"
"0000313289"	"0000695186"
"0000313290"	"0000695187"
"0000313291"	"0000695188"
"0000313292"	"0000695189"
"0000313293"	"0000695190"
"0000313294"	"0000695191"
"0000313295"	"0000695192"
"0000313296"	"0000695193"
"0000313297"	"0000695194"
"0000313298"	"0000695195"
"0000313299"	"0000695196"
"0000313300"	"0000695197"
"0000313301"	"0000695198"
"0000313302"	"0000695199"
"0000313303"	"0000695200"
"0000313304"	"0000695201"
"0000313305"	"0000695202"
"0000313306"	"0000695203"
"0000313307"	"0000695204"
"0000313308"	"0000695205"
"0000313309"	"0000695206"
"0000313310"	"0000695207"
"0000313311"	"0000695208"
"0000313312"	"0000695209"
"0000313313"	"0000695210"
"0000313314"	"0000695211"
"0000313315"	"0000695212"
"0000313316"	"0000695213"
"0000313317"	"0000695214"
"0000313318"	"0000695215"
"0000313319"	"0000695216"
"0000313320"	"0000695217"
"0000313321"	"0000695218"
"0000313322"	"0000695219"
"0000313323"	"0000695220"
"0000313324"	"0000695221"
"0000313325"	"0000695222"
"0000313326"	"0000695223"
"0000313327"	"0000695224"
"0000313328"	"0000695225"
"0000313329"	"0000695226"
"0000313330"	"0000695227"
"0000313331"	"0000695228"
"0000313332"	"0000695229"
"0000313333"	"0000695230"
"0000313334"	"0000695231"
"0000313335"	"0000695232"
"0000313336"	"0000695233"
"0000313337"	"0000695234"
"0000313338"	"0000695235"
"0000313339"	"0000695236"
"0000313340"	"0000695237"
"0000313341"	"0000695238"
"0000313342"	"0000695239"
"0000313343"	"0000695240"
"0000313344"	"0000695241"
"0000313345"	"0000695242"
"0000313346"	"0000695243"
"0000313347"	"0000695244"
"0000313348"	"0000695245"
"0000313349"	"0000695246"
"0000313350"	"0000695247"
"0000313351"	"0000695248"
"0000313352"	"0000695249"
"0000313353"	"0000695250"
"0000313354"	"0000695251"
"0000313355"	"0000695252"
"0000313356"	"0000695253"
"0000313357"	"0000695254"
"0000313358"	"0000695255"
"0000313359"	"0000695256"
"0000313360"	"0000695257"
"0000313361"	"0000695258"
"0000313362"	"0000695259"
"0000313363"	"0000695260"
"0000313364"	"0000695261"
"0000313365"	"0000695262"
"0000313366"	"0000695263"
"0000313367"	"0000695264"
"0000313368"	"0000695265"
"0000313369"	"0000695266"
"0000313370"	"0000695267"
"0000313371"	"0000695268"
"0000313372"	"0000695269"
"0000313373"	"0000695270"
"0000313374"	"0000695271"
"0000313375"	"0000695272"
"0000313376"	"0000695273"
"0000313377"	"0000695274"
"0000313378"	"0000695275"
"0000313379"	"0000695276"
"0000313380"	"0000695277"
"0000313381"	"0000695278"
"0000313382"	"0000695279"
"0000313383"	"0000695280"
"0000313384"	"0000695281"
"0000313385"	"0000695282"
"0000313386"	"0000695283"
"0000313387"	"0000695284"
"0000313388"	"0000695285"
"0000313389"	"0000695286"
"0000313390"	"0000695287"
"0000313391"	"0000695288"
"0000313392"	"0000695289"
"0000313393"	"0000695290"
"0000313394"	"0000695291"
"0000313395"	"0000695292"
"0000313396"	"0000695293"
"0000313397"	"0000695294"
"0000313398"	"0000695295"
"0000313399"	"0000695296"
"0000313400"	"0000695297"
"0000313401"	"0000695298"
"0000313402"	"0000695299"
"0000313403"	"0000695300"
"0000313404"	"0000695301"
"0000313405"	"0000695302"
"0000313406"	"0000695303"
"0000313407"	"0000695304"
"0000313408"	"0000695305"
"0000313409"	"0000695306"
"0000313410"	"0000695307"
"0000313411"	"0000695308"
"0000313412"	"0000695309"
"0000313413"	"0000695310"
"0000313414"	"0000695311"
"0000313415"	"0000695312"
"0000313416"	"0000695313"
"0000313417"	"0000695314"
"0000313418"	"0000695315"
"0000313419"	"0000695316"
"0000313420"	"0000695317"
"0000313421"	"0000695318"
"0000313422"	"0000695319"
"0000313423"	"0000695320"
"0000313424"	"0000695321"
"0000313425"	"0000695322"
"0000313426"	"0000695323"
"0000313427"	"0000695324"
"0000313428"	"0000695325"
"0000313429"	"0000695326"
"0000313430"	"0000695327"
"0000313431"	"0000695328"
"0000313432"	"0000695329"
"0000313433"	"0000695330"
"0000313434"	"0000695331"
"0000313435"	"0000695332"
"0000313436"	"0000695333"
"0000313437"	"0000695334"
"0000313438"	"0000695335"
"0000313439"	"0000695336"
"0000313440"	"0000695337"
"0000313441"	"0000695338"
"0000313442"	"0000695339"
"0000313443"	"0000695340"
"0000313444"	"0000695341"
"0000313445"	"0000695342"
"0000313446"	"0000695343"
"0000313447"	"0000695344"
"0000313448"	"0000695345"
"0000313449"	"0000695346"
"0000313450"	"0000695347"
"0000313451"	"0000695348"
"0000313452"	"0000695349"
"0000313453"	"0000695350"
"0000313454"	"0000695351"
"0000313455"	"0000695352"
"0000313456"	"0000695353"
"0000313457"	"0000695354"
"0000313458"	"0000695355"
"0000313459"	"0000695356"
"0000313460"	"0000695357"
"0000313461"	"0000695358"
"0000313462"	"0000695359"
"0000313463"	"0000695360"
"0000313464"	"0000695361"
"0000313465"	"0000695362"
"0000313466"	"0000695363"
"0000313467"	"0000695364"
"0000313468"	"0000695365"
"0000313469"	"0000695366"
"0000313470"	"0000695367"
"0000313471"	"0000695368"
"0000313472"	"0000695369"
"0000313473"	"0000695370"
"0000313474"	"0000695371"
"0000313475"	"0000695372"
"0000313476"	"0000695373"
"0000313477"	"0000695374"
"0000313478"	"0000695375"
"0000313479"	"0000695376"
"0000313480"	"0000695377"
"0000313481"	"0000695378"
"0000313482"	"0000695379"
"0000313483"	"0000695380"
"0000313484"	"0000695381"
"0000313485"	"0000695382"
"0000313486"	"0000695383"
"0000313487"	"0000695384"
"0000313488"	"0000695385"
"0000313489"	"0000695386"
"0000313490"	"0000695387"
"0000313491"	"0000695388"
"0000313492"	"0000695389"
"0000313493"	"0000695390"
"0000313494"	"0000695391"
"0000313495"	"0000695392"
"0000313496"	"0000695393"
"0000313497"	"0000695394"
"0000313498"	"0000695395"
"0000313499"	"0000695396"
"0000313500"	"0000695397"
"0000313501"	"0000695398"
"0000313502"	"0000695399"
"0000313503"	"0000695400"
"0000313504"	"0000695401"
"0000313505"	"0000695402"
"0000313506"	"0000695403"
"0000313507"	"0000695404"
"0000313508"	"0000695405"
"0000313509"	"0000695406"
"0000313510"	"0000695407"
"0000313511"	"0000695408"
"0000313512"	"0000695409"
"0000313513"	"0000695410"
"0000313514"	"0000695411"
"0000313515"	"0000695412"
"0000313516"	"0000695413"
"0000313517"	"0000695414"
"0000313518"	"0000695415"
"0000313519"	"0000695416"
"0000313520"	"0000695417"
"0000313521"	"0000695418"
"0000313522"	"0000695419"
"0000313523"	"0000695420"
"0000313524"	"0000695421"
"0000313525"	"0000695422"
"0000313526"	"0000695423"
"0000313527"	"0000695424"
"0000313528"	"0000695425"
"0000313529"	"0000695426"
"0000313530"	"0000695427"
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