### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MITF)
# 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}}"
"MITF"	"microphthalmia-associated transcription factor"	"3"	"p14.1-p12.3"	"unknown"	"NG_011631.1"	"UD_132118850027"	""	"https://www.LOVD.nl/MITF"	""	"1"	"7105"	"4286"	"156845"	"1"	"1"	"1"	"1"	"Change to MANE select NM_001354604.2\r\n<b>Initiated as Waardenburg syndrome gene variant databases by Veronique Pingault.</b>\r\nEstablishment 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"	"http://databases.lovd.nl/shared/refseq/MITF_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2009-09-17 00:00:00"	"00006"	"2022-08-17 10:21:29"	"00000"	"2025-07-08 13:22:38"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00013652"	"MITF"	"transcript variant 1"	"001"	"NM_198159.2"	""	"NP_937802.1"	""	""	""	"-163"	"4652"	"1563"	"69788586"	"70017488"	""	"0000-00-00 00:00:00"	""	""
"00024228"	"MITF"	"transcript variant 4"	"005"	"NM_000248.3"	""	"NP_000239.1"	""	""	""	"-123"	"4349"	"1260"	"69985751"	"70017488"	"00006"	"2017-02-10 18:02:13"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 13
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00094"	"WARBM2"	"Warburg micro syndrome, type 2 (WARBM2)"	"AR"	"614225"	""	""	""	"00006"	"2012-12-10 09:15:31"	"00006"	"2021-12-10 21:51:32"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00926"	"melanoma"	"melanoma"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2017-07-24 11:48:38"
"01166"	"TADS"	"Tietz albinism-deafness syndrome (TADS)"	"AD"	"103500"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01605"	"WS2A"	"Waardenburg syndrome, type 2A (WS2A)"	"AD"	"193510"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"03653"	"CMM8"	"melanoma, cutaneous, malignant, susceptibility to, type 8 (CMM8)"	""	"614456"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-10-26 16:41:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04296"	"MINAS"	"neoplasia, multiple inherited alleles (MINAS)"	"AD;AR;SMo"	""	""	""	""	"00006"	"2015-07-02 09:20:44"	"00006"	"2021-12-10 21:51:32"
"05079"	"PBD"	"peroxisome biogenesis disorder (Zellweger syndrome)"	"PG"	""	""	""	""	"00006"	"2015-09-25 13:40:55"	"00006"	"2021-12-10 21:51:32"
"05086"	"HL"	"hearing loss (HL)"	""	""	""	""	""	"00006"	"2015-10-23 11:41:05"	"00006"	"2015-10-23 11:43:00"
"05103"	"deafness"	"deafness"	""	""	""	""	""	"00006"	"2015-12-02 12:30:46"	"00006"	"2017-08-25 19:47:08"
"05224"	"COMMAD"	"COMMAD syndrome (coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness)"	"AR"	"617306"	""	""	""	"00006"	"2017-02-10 17:51:36"	"00006"	"2021-12-10 21:51:32"
"05667"	"WS"	"Waardenburg syndrome (WS)"	""	""	""	""	""	"00008"	"2019-10-30 16:28:42"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{geneid}}"	"{{diseaseid}}"
"MITF"	"01166"
"MITF"	"01605"
"MITF"	"03653"
"MITF"	"05224"


## Individuals ## Do not remove or alter this header ##
## Count = 95
"{{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}}"
"00059055"	""	""	""	"3"	""	"01542"	"Karen Avraham laboratory, Tel Aviv university, Israel, unpublished"	""	""	"no"	"Israel"	""	"0"	""	""	"Morocco;Jewish"	""
"00080010"	""	""	""	"1"	""	"01740"	"{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}"	""	""	""	""	""	""	""	""	""	""
"00100317"	""	""	""	"4"	""	"00006"	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}"	"2-generation family, 4 affecteds, mixed phenotype, PatII3"	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00100318"	""	""	"00100317"	"2"	""	"00006"	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}"	"father I2 and brother II2"	"M"	"no"	"United States"	""	"0"	""	""	""	""
"00100319"	""	""	"00100317"	"1"	""	"00006"	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}"	"mother I1"	"F"	"no"	"United States"	""	"0"	""	""	""	""
"00100320"	""	""	""	"6"	""	"00006"	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}"	"2-generation family, 6 affecteds, mixed phenotype, patient II4"	"F"	"no"	"United States"	""	"0"	""	""	""	""
"00100321"	""	""	"00100320"	"1"	""	"00006"	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}"	""	"F"	"no"	"United States"	""	"0"	""	""	""	""
"00100322"	""	""	"00100320"	"4"	""	"00006"	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}"	"patients I2, II1, II2, II3 (2F, 2M)"	"F;M"	"no"	"United States"	""	"0"	""	""	""	""
"00275552"	""	""	""	"1"	""	"02476"	""	""	"F"	"no"	"Argentina"	">33y"	"0"	""	"cochlear implant"	"white"	""
"00282364"	""	""	""	"1"	""	"00004"	"{PMID:Chen 2010:20478267}"	""	""	""	""	""	"0"	""	""	""	""
"00282370"	""	""	""	"1"	""	"00004"	"{PMID:Chassaing 2016:26893459}"	""	""	""	""	""	"0"	""	""	""	""
"00282371"	""	""	""	"1"	""	"00004"	"{PMID:Tassabehji 1994:7874167}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282373"	""	""	""	"1"	""	"00004"	"{PMID:Chen 2010:20478267}, {PMID:Zhang 2012:23098757}"	""	""	""	""	""	"0"	""	""	""	""
"00282375"	""	""	""	"1"	""	"00004"	""	""	""	""	""	""	"0"	""	""	""	""
"00282376"	""	""	""	"1"	""	"00004"	"{PMID:Smith 2000:10851256}, {PMID:TIETZ 1963:13985019}, {PMID:Grill 2013:23787126}"	""	""	""	""	""	"0"	""	""	""	""
"00282377"	""	""	""	"1"	""	"00004"	"{PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282379"	""	""	""	"1"	""	"00004"	"{PMID:Grill 2013:23787126}"	""	""	""	""	""	"0"	""	""	""	""
"00282384"	""	""	""	"1"	""	"00004"	"{PMID:Chen 2010:20478267}"	""	""	""	""	""	"0"	""	""	""	""
"00282385"	""	""	""	"1"	""	"00004"	"{PMID:Feng 2007:18229597}, {PMID:Zhang 2012:23098757}"	""	""	""	""	""	"0"	""	""	""	""
"00282387"	""	""	""	"1"	""	"00004"	"{PMID:Lautenschlager 1996:8880147}"	""	""	""	""	""	"0"	""	""	""	""
"00282388"	""	""	""	"1"	""	"00004"	"{PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282389"	""	""	""	"1"	""	"00004"	"{PMID:Pingault 2010:20127975}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282394"	""	""	""	"1"	""	"00004"	"{PMID:Nobukuni 1996:8659547}, {PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00282399"	""	""	""	"1"	""	"00004"	"{PMID:Tassabehji 1995:8589691}, {PMID:Takeda 2000:10587587}, {PMID:Grill 2013:23787126}"	""	""	""	""	""	"0"	""	""	""	""
"00282401"	""	""	""	"1"	""	"00004"	"{PMID:Hampel 2015:25394175}, {PMID:Yokoyama 2011:22080950}, {PMID:Bertolotto 2011:22012259}"	""	""	""	""	""	"0"	""	""	""	""
"00282402"	""	""	""	"1"	""	"00004"	"{PMID:Hatvani 2014:24660985}"	""	""	""	""	""	"0"	""	""	""	""
"00283387"	""	""	""	"1"	""	"00004"	"{PMID:Xiong 2015:25525159}"	""	""	""	""	""	"0"	""	""	""	""
"00315568"	""	""	""	"1"	""	"03808"	"{PMID:Tassabehji 1994:7874167}"	""	""	""	""	""	"0"	""	""	""	""
"00315569"	""	""	""	"1"	""	"03808"	"{PMID:Tassabehji 1995:8589691}"	""	""	""	"Australia"	""	"0"	""	""	"south"	""
"00315570"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315571"	""	""	""	"1"	""	"03808"	"{PMID:Tassabehji 1994:7874167}"	""	""	""	""	""	"0"	""	""	""	""
"00315572"	""	""	""	"1"	""	"03808"	"{PMID:Monma 2008:18595666}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00315573"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	""	""	"0"	""	""	""	""
"00315574"	""	""	""	"1"	""	"03808"	"{PMID:Lautenschlager 1996:8880147}"	""	""	""	""	""	"0"	""	""	""	""
"00315575"	""	""	""	"1"	""	"03808"	"{PMID:Tassabehji 1995:8589691}"	""	""	""	""	""	"0"	""	""	""	""
"00315576"	""	""	""	"1"	""	"03808"	"{PMID:Smith 2000:10851256}"	"separate branch of the family reported by Tietz"	""	""	"United States;Ireland"	""	"0"	""	""	""	""
"00315577"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	""	""	"0"	""	""	""	""
"00315578"	""	""	""	"1"	""	"03808"	"{PMID:Chen 2008:18424413}"	""	""	""	"China"	""	"0"	""	""	""	""
"00315579"	""	""	""	"1"	""	"03808"	"{PMID:Nobukuni 1996:8659547}"	""	""	""	""	""	"0"	""	""	""	""
"00315580"	""	""	""	"1"	""	"03808"	"{PMID:Lalwani 1998:9856573}"	""	""	""	"India"	""	"0"	""	""	""	""
"00315581"	""	""	""	"1"	""	"03808"	"{PMID:Leger 2012:22258527}, {PMID:Pingault 2010:20127975}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315582"	""	""	""	"2"	""	"03808"	"{PMID:Amiel 1998:9546825}, {PMID:Tassabehji 1995:8589691}"	""	""	""	""	""	"0"	""	""	""	""
"00315583"	""	""	""	"1"	""	"03808"	"{PMID:Izumi 2008:18510545}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315584"	""	""	""	"1"	""	"03808"	"{PMID:Leger 2012:22258527}, {PMID:Pingault 2010:20127975}"	""	""	""	""	""	"0"	""	""	""	""
"00315585"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	""	""	"0"	""	""	""	""
"00315586"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315587"	""	""	""	"2"	""	"03808"	"{PMID:[Haddad (2011)]:21373256}"	""	""	""	"Lebanon"	""	"0"	""	""	""	""
"00315588"	""	""	""	"1"	""	"03808"	"{PMID:Tassabehji 1995:8589691}"	""	""	""	""	""	"0"	""	""	""	""
"00315589"	""	""	""	"1"	""	"03808"	"{PMID:Read 1997:9279758}"	""	""	""	""	""	"0"	""	""	""	""
"00315590"	""	""	""	"1"	""	"03808"	"{PMID:Nobukuni 1996:8659547}"	""	""	""	""	""	"0"	""	""	""	""
"00315591"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	"Togo"	""	"0"	""	""	""	""
"00315592"	""	""	""	"1"	""	"03808"	"{PMID:Pingault 2010:20127975}"	""	""	""	""	""	"0"	""	""	""	""
"00315593"	""	""	""	"1"	""	"03808"	"{PMID:Morell 1997:9158138}"	""	""	""	""	""	"0"	""	""	""	""
"00315594"	""	""	""	"1"	""	"03808"	"{PMID:Tassabehji 1995:8589691}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315595"	""	""	""	"1"	""	"03808"	"{PMID:Tassabehji 1995:8589691}"	""	""	""	""	""	"0"	""	""	""	""
"00315596"	""	""	""	"1"	""	"03808"	"{PMID:Chiang 2009:19938076}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315597"	""	""	""	"1"	""	"03808"	"{PMID:Chen 2010:20478267}"	""	""	""	"China"	""	"0"	""	""	""	""
"00315598"	""	""	""	"1"	""	"03808"	"{PMID:Chen 2010:20478267}"	""	""	""	"China"	""	"0"	""	""	""	""
"00315599"	""	""	""	"1"	""	"03808"	"{PMID:Chen 2010:20478267}"	""	""	""	"China"	""	"0"	""	""	""	""
"00315600"	""	""	""	"1"	""	"03808"	"{PMID:Chen 2010:20478267}"	""	""	""	"China"	""	"0"	""	""	""	""
"00315601"	""	""	""	"1"	""	"03808"	"{PMID:Chen 2010:20478267}"	""	""	""	"China"	""	"0"	""	""	""	""
"00315602"	""	""	""	"1"	""	"03808"	"{PMID:Shigemura 2010:20485200}"	""	""	""	""	""	"0"	""	""	""	""
"00315603"	""	""	""	"1"	""	"03808"	"{PMID:Haddad 2011:21373256}"	""	""	""	"Syria"	""	"0"	""	""	""	""
"00315604"	""	""	""	"1"	""	"03808"	"{PMID:Brenner 2011:21438779}"	""	""	""	""	""	"0"	""	""	""	""
"00315605"	""	""	""	"1"	""	"03808"	"{PMID:Leger 2012:22258527}"	""	"F"	""	"France;Italy"	""	"0"	""	""	""	""
"00315606"	""	""	""	"1"	""	"03808"	"{PMID:Leger 2012:22258527}"	""	""	""	"Viet Nam;Martinique"	""	"0"	""	""	""	""
"00315607"	""	""	""	"1"	""	"03808"	"{PMID:Leger 2012:22258527}"	""	"F"	""	"South Africa"	""	"0"	""	""	"European"	""
"00315608"	""	""	""	"1"	""	"03808"	"{PMID:Leger 2012:22258527}"	""	""	""	"Portugal"	""	"0"	""	""	""	""
"00315609"	""	""	""	"1"	""	"03808"	"{PMID:Schwarzbraun 2007:17318840}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315610"	""	""	""	"1"	""	"03808"	"{PMID:Milunsky 2007:17627390}"	""	""	""	""	""	"0"	""	""	""	""
"00315611"	""	""	""	"3"	""	"03808"	"{PMID:Yang 2013:22320238}"	"2-generation family, 3 affected"	"M"	""	"China"	""	"0"	""	""	""	"FamPatII1"
"00315612"	""	""	""	"11"	""	"03808"	"{PMID:Yan 2011:22196401}"	"5-generation family, 10 affected (6F, 5M), PatV3 compount heterozygous GJB2"	"M"	""	"China"	""	"0"	""	""	""	"FamPatV3"
"00315613"	""	""	""	"1"	""	"03808"	"{PMID:Wildhardt 2013:23512835}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315614"	""	""	""	"1"	""	"03808"	"{PMID:Wildhardt 2013:23512835}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315615"	""	""	""	"1"	""	"03808"	"{PMID:Wildhardt 2013:23512835}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315616"	""	""	""	"1"	""	"03808"	"{PMID:Wildhardt 2013:23512835}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315617"	""	""	""	"1"	""	"03808"	"{PMID:Wildhardt 2013:23512835}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315618"	""	""	""	"1"	""	"03808"	"{PMID:Grill 2013:23787126}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315619"	""	""	""	"1"	""	"03808"	"{PMID:Yang 2013:24194866}"	""	"M"	""	"China"	""	"0"	""	""	""	""
"00315620"	""	""	""	"1"	""	"03808"	"{PMID:Yang 2013:24194866}"	""	"F"	""	"China"	""	"0"	""	""	""	""
"00315621"	""	""	""	"1"	""	"03808"	"{PMID:Yang 2013:24194866}"	""	"F"	""	"China"	""	"0"	""	""	""	""
"00315622"	""	""	""	"1"	""	"03808"	"{PMID:Yang 2013:24194866}"	""	"M"	""	"China"	""	"0"	""	""	""	""
"00315623"	""	""	"00315611"	"1"	""	"03808"	"{PMID:Yang 2013:22320238}"	"father"	"M"	""	"China"	""	"0"	""	""	""	"FamPatI2"
"00333431"	""	""	""	"1"	""	"03388"	""	""	"M"	"no"	"Iran"	""	""	""	""	""	"MITF-male"
"00380712"	""	""	""	"1"	""	"04006"	"{PMID:Batissoco 2021:34599368}"	""	"M"	"no"	"Brazil"	""	""	""	""	""	"W9"
"00381103"	""	""	""	"2"	""	"04006"	"{PMID:Batissoco 2021:34599368}"	""	"M"	"no"	"Brazil"	""	""	""	""	""	""
"00381104"	""	""	"00381103"	"1"	""	"04006"	"{PMID:Batissoco 2021:34599368}"	""	"M"	"no"	"Brazil"	""	""	""	""	""	""
"00381532"	""	""	""	"1"	""	"04006"	"{PMID:Batissoco 2021:34599368}"	""	"M"	"no"	"Brazil"	""	""	""	""	""	""
"00385880"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2020:32013026}"	"2nd son of IV:3 and IV:4"	"M"	""	"(Germany)"	""	"0"	""	""	"white"	"V.2"
"00415811"	""	""	""	"2"	""	"04294"	""	""	"M"	"yes"	"China"	""	""	""	""	"Chinese"	"S-7"
"00429480"	""	""	""	"1"	""	"01082"	""	""	"M"	"?"	"Brazil"	""	""	""	""	""	"MINAS_01"
"00441490"	""	""	""	"2"	""	"00006"	"{PMID:Boucher 2020:33229591}"	"family, 2 affected"	""	""	"France"	""	"0"	""	""	""	"PAR007"
"00465463"	""	""	""	"1"	""	"00006"	"{PMID:Wu 2019:31581539}"	"analysis 1291 cases hearing loss"	""	""	"Taiwan"	""	"0"	""	""	""	""
"00465464"	""	""	""	"1"	""	"00006"	"{PMID:Wu 2019:31581539}"	"analysis 1291 cases hearing loss"	""	""	"Taiwan"	""	"0"	""	""	""	""
"00465465"	""	""	""	"1"	""	"00006"	"{PMID:Wu 2019:31581539}"	"analysis 1291 cases hearing loss"	""	""	"Taiwan"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 94
"{{individualid}}"	"{{diseaseid}}"
"00059055"	"00094"
"00080010"	"05103"
"00100317"	"05224"
"00100318"	"00198"
"00100319"	"00198"
"00100320"	"05224"
"00100321"	"00198"
"00100322"	"00198"
"00275552"	"05103"
"00282364"	"05667"
"00282370"	"00198"
"00282371"	"05667"
"00282373"	"05667"
"00282375"	"00198"
"00282376"	"00198"
"00282377"	"05667"
"00282379"	"00198"
"00282384"	"05667"
"00282385"	"05667"
"00282387"	"05667"
"00282388"	"05667"
"00282389"	"05667"
"00282394"	"05667"
"00282399"	"05667"
"00282402"	"00926"
"00283387"	"05079"
"00315568"	"05667"
"00315569"	"05667"
"00315570"	"05667"
"00315571"	"05667"
"00315572"	"05667"
"00315573"	"05667"
"00315574"	"05667"
"00315575"	"05667"
"00315576"	"00198"
"00315577"	"05667"
"00315578"	"05667"
"00315579"	"05667"
"00315580"	"05667"
"00315581"	"05667"
"00315582"	"00198"
"00315583"	"00198"
"00315584"	"00198"
"00315585"	"05667"
"00315586"	"05667"
"00315587"	"05667"
"00315588"	"05667"
"00315589"	"05667"
"00315590"	"05667"
"00315591"	"05667"
"00315592"	"05667"
"00315593"	"05667"
"00315594"	"05667"
"00315595"	"05667"
"00315596"	"05667"
"00315597"	"05667"
"00315598"	"05667"
"00315599"	"05667"
"00315600"	"05667"
"00315601"	"05667"
"00315602"	"00198"
"00315603"	"05667"
"00315604"	"05667"
"00315605"	"05667"
"00315606"	"05667"
"00315607"	"05667"
"00315608"	"05667"
"00315609"	"05667"
"00315610"	"05667"
"00315611"	"05667"
"00315612"	"05667"
"00315613"	"05667"
"00315614"	"05667"
"00315615"	"05667"
"00315616"	"00198"
"00315617"	"05667"
"00315618"	"05667"
"00315619"	"05667"
"00315620"	"05667"
"00315621"	"05667"
"00315622"	"05667"
"00315623"	"05667"
"00333431"	"01605"
"00380712"	"01605"
"00381103"	"01605"
"00381104"	"01605"
"00381532"	"01605"
"00385880"	"04214"
"00415811"	"01605"
"00429480"	"04296"
"00441490"	"05086"
"00465463"	"05086"
"00465464"	"05086"
"00465465"	"05086"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00094, 00198, 00926, 01166, 01605, 03653, 04214, 04296, 05079, 05086, 05103, 05224, 05667
## Count = 92
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000045645"	"00094"	"00059055"	"01542"	"Familial, autosomal dominant"	""	"congenital, profound HL, Waardenburg II"	""	""	""	""	""	""	""	""	""	""	""
"0000078537"	"05224"	"00100317"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., colobomatous microphthalmia, microcornea with pannus, dense bilateral cataracts, translucent irides, profound congenital sensorineural hearing loss, lack visible pigment hair/skin/eyes, microphthalmia on prenatal\r\nultrasound, macrocephaly"	""	""	""	""	""	""	""	""	""	""	""
"0000078540"	"05224"	"00100320"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., born with severe microphthalmia, profound congenital sensorineural hearing loss, lack of pigment hair/skin/eyes; relative macrocephaly, short stature, low weight"	""	""	""	""	""	""	""	""	""	""	""
"0000078541"	"00198"	"00100318"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., congenital sensorineural hearing loss, blue irides, fair skin, premature graying hair (third or fourth decade), no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata"	""	""	""	""	""	""	""	""	""	""	""
"0000078542"	"00198"	"00100319"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., congenital sensorineural hearing loss, blue irides, fair skin, no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata"	""	""	""	""	""	""	""	""	""	""	""
"0000078543"	"00198"	"00100321"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., congenital sensorineural hearing loss, premature graying, blue\r\nirides, fair skin, no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata"	""	""	""	""	""	""	""	""	""	""	""
"0000078544"	"00198"	"00100322"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..., congenital sensorineural hearing loss, premature graying, blue irides,fair skin, no dystopia canthorum, no osteopetrosis, no macrocephaly, no microphthalmia, no colobomata"	""	""	""	""	""	""	""	""	""	""	""
"0000210169"	"05103"	"00275552"	"02476"	"Familial, autosomal dominant"	"21y"	"cochlear implanted \r\ncongenital profound deafness"	""	"01y"	"HP:0000399"	""	""	""	""	""	""	"severe-profound prelingual deafness"	""
"0000216591"	"00198"	"00282370"	"00008"	"Unknown"	""	"psychomotor delay"	""	""	""	""	""	""	""	""	""	"Anophthalmia - microphthalmia"	""
"0000216592"	"00198"	"00282375"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Tietz Syndrome"	""
"0000216593"	"00198"	"00282376"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Tietz Syndrome"	""
"0000216594"	"00198"	"00282379"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Tietz Syndrome"	""
"0000217974"	"00926"	"00282402"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Melanoma"	""
"0000218078"	"05079"	"00283387"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 4"	"peroxisome biogenesis disorder"	""
"0000219352"	"05667"	"00282364"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	""
"0000219358"	"05667"	"00282371"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2A"	"Waardenburg syndrome"	""
"0000219360"	"05667"	"00282373"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2"	"Waardenburg syndrome"	""
"0000219362"	"05667"	"00282377"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2"	"Waardenburg syndrome"	""
"0000219368"	"05667"	"00282384"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	""
"0000219369"	"05667"	"00282385"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2"	"Waardenburg syndrome"	""
"0000219371"	"05667"	"00282387"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2"	"Waardenburg syndrome"	""
"0000219372"	"05667"	"00282388"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2"	"Waardenburg syndrome"	""
"0000219373"	"05667"	"00282389"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2"	"Waardenburg syndrome"	""
"0000219378"	"05667"	"00282394"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"type 2A"	"Waardenburg syndrome"	""
"0000219383"	"05667"	"00282399"	"00008"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	""
"0000239314"	"05667"	"00315568"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239315"	"05667"	"00315569"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239316"	"05667"	"00315570"	"03808"	"Unknown"	""	"osteochondromas"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239317"	"05667"	"00315571"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239318"	"05667"	"00315572"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239319"	"05667"	"00315573"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239320"	"05667"	"00315574"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239321"	"05667"	"00315575"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239322"	"00198"	"00315576"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Tietz syndrome"	""
"0000239323"	"05667"	"00315577"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239324"	"05667"	"00315578"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239325"	"05667"	"00315579"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239326"	"05667"	"00315580"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239327"	"05667"	"00315581"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239328"	"00198"	"00315582"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Tietz syndrome"	""
"0000239329"	"00198"	"00315583"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"Tietz syndrome"	""
"0000239330"	"00198"	"00315584"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Tietz syndrome"	""
"0000239331"	"05667"	"00315585"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239332"	"05667"	"00315586"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239333"	"05667"	"00315587"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239334"	"05667"	"00315588"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	""
"0000239335"	"05667"	"00315589"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239336"	"05667"	"00315590"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239337"	"05667"	"00315591"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239338"	"05667"	"00315592"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239339"	"05667"	"00315593"	"03808"	"Unknown"	""	"ocular albinism and a functionally significant polymorphism of the TYR gene"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239340"	"05667"	"00315594"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239341"	"05667"	"00315595"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239342"	"05667"	"00315596"	"03808"	"Unknown"	""	"Ocular albinism and a missense variation of the TYRP1 gene in the propositus"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome, Tietz syndrome"	""
"0000239343"	"05667"	"00315597"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239344"	"05667"	"00315598"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239345"	"05667"	"00315599"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239346"	"05667"	"00315600"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239347"	"05667"	"00315601"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239348"	"00198"	"00315602"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Tietz syndrome"	""
"0000239349"	"05667"	"00315603"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239350"	"05667"	"00315604"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239351"	"05667"	"00315605"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239352"	"05667"	"00315606"	"03808"	"Unknown"	""	"freckles"	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome, global hypopigmentation, no deafness"	""
"0000239353"	"05667"	"00315607"	"03808"	"Isolated (sporadic)"	""	"freckles strabismus"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239354"	"05667"	"00315608"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome, global hypopigmentation"	""
"0000239355"	"05667"	"00315609"	"03808"	"Isolated (sporadic)"	""	"developmental delay"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome, Tietz syndrome"	""
"0000239356"	"05667"	"00315610"	"03808"	"Unknown"	""	"deafness, hypopigmentation, bright blue irides; mother has deafness."	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	""
"0000239357"	"05667"	"00315611"	"03808"	"Familial, autosomal recessive"	""	"More extended depigmentation than his parents with a single mutation"	""	""	""	""	""	""	""	""	"WS1"	"Waardenburg syndrome"	""
"0000239358"	"05667"	"00315612"	"03808"	"Familial, autosomal dominant"	""	"see paper;,  includes brown freckles on skin sensorineural deafness, blue irides, premature graying"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239359"	"05667"	"00315613"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239360"	"05667"	"00315614"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239361"	"05667"	"00315615"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239362"	"00198"	"00315616"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Mild hearing loss"	""
"0000239363"	"05667"	"00315617"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239364"	"05667"	"00315618"	"03808"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239365"	"05667"	"00315619"	"03808"	"Unknown"	""	"freckles. No deafness (except late onset in one family member)"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome?"	""
"0000239366"	"05667"	"00315620"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239367"	"05667"	"00315621"	"03808"	"Isolated (sporadic)"	""	"freckles"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239368"	"05667"	"00315622"	"03808"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000239369"	"05667"	"00315623"	"03808"	"Unknown"	""	"freckles"	""	""	""	""	""	""	""	""	"WS2"	"Waardenburg syndrome"	""
"0000251618"	"01605"	"00333431"	"03388"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000274565"	"01605"	"00380712"	"04006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000274954"	"01605"	"00381103"	"04006"	"Familial, autosomal dominant"	""	"Bilateral profound SHL (cochlear implanted - different service), iris heterochromia and blonde hair backlock"	""	""	""	""	""	""	""	""	""	""	""
"0000274955"	"01605"	"00381104"	"04006"	"Familial, autosomal dominant"	""	"blonde hair lock behind the ear, normal hearing"	""	""	""	""	""	""	""	""	""	""	""
"0000275382"	"01605"	"00381532"	"04006"	"Isolated (sporadic)"	""	"profound sensorineural hearing loss, Hypoplastic irides at birth that turned out into partial\r\nheterochromia irides after few months"	""	""	""	""	""	""	""	""	""	""	""
"0000279683"	"04214"	"00385880"	"00000"	"Isolated (sporadic)"	"11y"	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	"Retinal disease"	""
"0000320352"	"04296"	"00429480"	"01082"	"Familial, autosomal dominant"	""	"HP:0012034"	"29y"	"29y"	""	""	""	""	""	""	""	""	""
"0000330928"	"05086"	"00441490"	"00006"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	"multiplex family age-related hearing loss"	""
"0000351011"	"05086"	"00465463"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndrome"	""
"0000351012"	"05086"	"00465464"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndromic"	""
"0000351013"	"05086"	"00465465"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"Waardenburg syndromic"	""


## Screenings ## Do not remove or alter this header ##
## Count = 95
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000059021"	"00059055"	"1"	"01542"	"01542"	"2016-02-19 03:48:25"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000080088"	"00080010"	"1"	"01740"	"01740"	"2016-09-01 11:48:45"	""	""	"SEQ-NG"	"DNA"	""	""
"0000100721"	"00100317"	"1"	"00006"	"00006"	"2017-02-10 18:52:50"	""	""	"SEQ"	"DNA"	""	""
"0000100722"	"00100318"	"1"	"00006"	"00006"	"2017-02-10 19:00:36"	""	""	"SEQ"	"DNA"	""	""
"0000100723"	"00100319"	"1"	"00006"	"00006"	"2017-02-10 19:08:05"	""	""	"SEQ"	"DNA"	""	""
"0000100724"	"00100320"	"1"	"00006"	"00006"	"2017-02-10 19:11:30"	""	""	"SEQ"	"DNA"	""	""
"0000100725"	"00100321"	"1"	"00006"	"00006"	"2017-02-10 19:33:24"	""	""	"SEQ"	"DNA"	""	""
"0000100726"	"00100322"	"1"	"00006"	"00006"	"2017-02-10 19:38:14"	""	""	"SEQ"	"DNA"	""	""
"0000276711"	"00275552"	"1"	"02476"	"02476"	"2020-01-07 17:41:12"	""	""	"SEQ-NG"	"DNA"	"blood"	"WES"
"0000283514"	"00282364"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283520"	"00282370"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283521"	"00282371"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283523"	"00282373"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283525"	"00282375"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283526"	"00282376"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283527"	"00282377"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283529"	"00282379"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283534"	"00282384"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283535"	"00282385"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283537"	"00282387"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283538"	"00282388"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283539"	"00282389"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283544"	"00282394"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283549"	"00282399"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283551"	"00282401"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000283552"	"00282402"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000284537"	"00283387"	"1"	"00004"	"00008"	"2020-02-05 13:36:16"	""	""	"?"	"DNA"	""	""
"0000316748"	"00315568"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:49:07"	"HD;SEQ;SSCA"	"DNA"	""	""
"0000316749"	"00315569"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:49:28"	"HD;SEQ;SSCA"	"DNA"	""	""
"0000316750"	"00315570"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:49:52"	"SEQ"	"DNA"	""	""
"0000316751"	"00315571"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:50:11"	"SSCA;HD;SEQ"	"DNA"	""	""
"0000316752"	"00315572"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:50:30"	"SEQ;SSCA"	"DNA;RNA"	""	""
"0000316753"	"00315573"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:50:52"	"SEQ"	"DNA"	""	""
"0000316754"	"00315574"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:51:08"	"SEQ;CSGE"	"DNA"	""	""
"0000316755"	"00315575"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:51:27"	"HD;SEQ;SSCA"	"DNA"	""	""
"0000316756"	"00315576"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:51:56"	"HD;SEQ"	"DNA"	""	""
"0000316757"	"00315577"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:52:16"	"SEQ"	"DNA"	""	""
"0000316758"	"00315578"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:52:39"	"?"	"DNA"	""	""
"0000316759"	"00315579"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:53:00"	"SEQ;SSCA"	"DNA"	""	""
"0000316760"	"00315580"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:53:42"	"SEQ;SSCA"	"DNA"	""	""
"0000316761"	"00315581"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2013-12-17 09:12:48"	"SEQ"	"DNA"	""	""
"0000316762"	"00315582"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:54:03"	"HD;SEQ;SSCA"	"DNA"	""	""
"0000316763"	"00315583"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:54:21"	"SEQ"	"DNA"	""	""
"0000316764"	"00315584"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2013-12-17 09:13:55"	"SEQ"	"DNA"	""	""
"0000316765"	"00315585"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:55:34"	"SEQ"	"DNA"	""	""
"0000316766"	"00315586"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:55:56"	"SEQ"	"DNA"	""	""
"0000316767"	"00315587"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2011-11-16 15:45:40"	"SEQ"	"DNA"	""	""
"0000316768"	"00315588"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:57:00"	"HD;SEQ;SSCA"	"DNA"	""	""
"0000316769"	"00315589"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:57:28"	"?"	"DNA"	""	""
"0000316770"	"00315590"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:57:47"	"SEQ;SSCA"	"DNA"	""	""
"0000316771"	"00315591"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:58:05"	"SEQ"	"DNA"	""	""
"0000316772"	"00315592"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:58:26"	"SEQ"	"DNA"	""	""
"0000316773"	"00315593"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:58:54"	"SEQ;SSCA"	"DNA"	""	""
"0000316774"	"00315594"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:59:14"	"HD;SEQ;SSCA"	"DNA"	""	""
"0000316775"	"00315595"	"1"	"03808"	"00115"	"2009-10-01 08:58:30"	"03808"	"2010-02-04 14:59:44"	"HD;SEQ;SSCA"	"DNA"	""	""
"0000316776"	"00315596"	"1"	"03808"	"03808"	"2010-02-03 14:07:49"	"03808"	"2010-02-04 14:55:12"	"SEQ"	"DNA"	""	""
"0000316777"	"00315597"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:51:11"	"SEQ"	"DNA"	""	""
"0000316778"	"00315598"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:53:34"	"SEQ"	"DNA"	""	""
"0000316779"	"00315599"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:53:56"	"SEQ"	"DNA"	""	""
"0000316780"	"00315600"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:54:17"	"SEQ"	"DNA"	""	""
"0000316781"	"00315601"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:54:58"	"SEQ"	"DNA"	""	""
"0000316782"	"00315602"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:54:35"	"SEQ"	"DNA"	""	""
"0000316783"	"00315603"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:50:45"	"SEQ"	"DNA"	""	""
"0000316784"	"00315604"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:55:43"	"SEQ"	"DNA;RNA"	""	""
"0000316785"	"00315605"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:51:35"	"SEQ"	"DNA"	""	""
"0000316786"	"00315606"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:51:54"	"SEQ"	"DNA"	""	""
"0000316787"	"00315607"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:53:01"	"SEQ"	"DNA"	""	""
"0000316788"	"00315608"	"1"	"03808"	"03808"	"2011-11-18 09:25:50"	"03808"	"2013-12-18 17:55:27"	"SEQ"	"DNA"	""	""
"0000316789"	"00315609"	"1"	"03808"	"03808"	"2013-12-18 15:11:07"	"03808"	"2013-12-18 17:55:55"	"FISH"	"DNA"	"lymphocytes"	""
"0000316790"	"00315610"	"1"	"03808"	"03808"	"2013-12-18 15:11:07"	"03808"	"2013-12-18 17:56:06"	"MLPA"	"DNA"	""	""
"0000316791"	"00315611"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316792"	"00315612"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316793"	"00315613"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316794"	"00315614"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316795"	"00315615"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316796"	"00315616"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"MLPA"	"DNA"	""	""
"0000316797"	"00315617"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"MLPA"	"DNA"	""	""
"0000316798"	"00315618"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316799"	"00315619"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316800"	"00315620"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316801"	"00315621"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316802"	"00315622"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000316803"	"00315623"	"1"	"03808"	"03808"	"2013-12-31 09:01:53"	""	""	"SEQ"	"DNA"	""	""
"0000334656"	"00333431"	"1"	"03388"	"03388"	"2021-02-25 13:18:53"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	"WES"
"0000381925"	"00380712"	"1"	"04006"	"04006"	"2021-08-19 21:03:15"	""	""	"SEQ"	"DNA"	""	""
"0000382318"	"00381103"	"1"	"04006"	"04006"	"2021-08-26 22:52:36"	""	""	"SEQ"	"DNA"	""	""
"0000382319"	"00381104"	"1"	"04006"	"04006"	"2021-08-26 22:59:01"	""	""	"SEQ"	"DNA"	""	""
"0000382747"	"00381532"	"1"	"04006"	"04006"	"2021-08-30 16:47:23"	""	""	"SEQ"	"DNA"	""	""
"0000387108"	"00385880"	"1"	"00000"	"03840"	"2021-10-18 10:31:04"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000417092"	"00415811"	"1"	"04294"	"04294"	"2022-08-16 14:54:17"	""	""	"SEQ-NG-I"	"DNA"	"Blood"	"entsj"
"0000430893"	"00429480"	"1"	"01082"	"01082"	"2023-01-11 18:19:03"	"01082"	"2023-01-16 15:24:17"	"SEQ-NG"	"DNA"	""	""
"0000442976"	"00441490"	"1"	"00006"	"00006"	"2023-11-08 15:20:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000467112"	"00465463"	"1"	"00006"	"00006"	"2025-05-19 19:24:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"213-gene panel"
"0000467113"	"00465464"	"1"	"00006"	"00006"	"2025-05-19 19:24:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"213-gene panel"
"0000467114"	"00465465"	"1"	"00006"	"00006"	"2025-05-19 19:24:16"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"213-gene panel"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 88
"{{screeningid}}"	"{{geneid}}"
"0000100721"	"MITF"
"0000100722"	"MITF"
"0000100723"	"MITF"
"0000100724"	"MITF"
"0000100725"	"MITF"
"0000100726"	"MITF"
"0000276711"	"MITF"
"0000283514"	"MITF"
"0000283520"	"MITF"
"0000283521"	"MITF"
"0000283523"	"MITF"
"0000283525"	"MITF"
"0000283526"	"MITF"
"0000283527"	"MITF"
"0000283529"	"MITF"
"0000283534"	"MITF"
"0000283535"	"MITF"
"0000283537"	"MITF"
"0000283538"	"MITF"
"0000283539"	"MITF"
"0000283544"	"MITF"
"0000283549"	"MITF"
"0000283551"	"MITF"
"0000283552"	"MITF"
"0000284537"	"MITF"
"0000316748"	"MITF"
"0000316749"	"MITF"
"0000316750"	"MITF"
"0000316751"	"MITF"
"0000316752"	"MITF"
"0000316753"	"MITF"
"0000316754"	"MITF"
"0000316755"	"MITF"
"0000316756"	"MITF"
"0000316757"	"MITF"
"0000316758"	"MITF"
"0000316759"	"MITF"
"0000316760"	"MITF"
"0000316761"	"MITF"
"0000316762"	"MITF"
"0000316763"	"MITF"
"0000316764"	"MITF"
"0000316765"	"MITF"
"0000316766"	"MITF"
"0000316767"	"MITF"
"0000316768"	"MITF"
"0000316769"	"MITF"
"0000316770"	"MITF"
"0000316771"	"MITF"
"0000316772"	"MITF"
"0000316773"	"MITF"
"0000316774"	"MITF"
"0000316775"	"MITF"
"0000316776"	"MITF"
"0000316777"	"MITF"
"0000316778"	"MITF"
"0000316779"	"MITF"
"0000316780"	"MITF"
"0000316781"	"MITF"
"0000316782"	"MITF"
"0000316783"	"MITF"
"0000316784"	"MITF"
"0000316785"	"MITF"
"0000316786"	"MITF"
"0000316787"	"MITF"
"0000316788"	"MITF"
"0000316789"	"MITF"
"0000316790"	"MITF"
"0000316791"	"MITF"
"0000316792"	"MITF"
"0000316793"	"MITF"
"0000316794"	"MITF"
"0000316795"	"MITF"
"0000316796"	"MITF"
"0000316797"	"MITF"
"0000316798"	"MITF"
"0000316799"	"MITF"
"0000316800"	"MITF"
"0000316801"	"MITF"
"0000316802"	"MITF"
"0000316803"	"MITF"
"0000334656"	"MITF"
"0000381925"	"MITF"
"0000382318"	"MITF"
"0000382319"	"MITF"
"0000382747"	"MITF"
"0000387108"	"MITF"
"0000417092"	"MITF"


## 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 = 190
"{{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}}"
"0000089821"	"21"	"90"	"3"	"70014026"	"70014026"	"del"	"0"	"01542"	"MITF_000051"	"g.70014026del"	"0/165 patients"	""	""	"1189delG"	"0/224 controls"	"Germline"	"yes"	""	"0"	""	""	"g.69964875del"	""	"pathogenic"	""
"0000128967"	"1"	"70"	"3"	"69988315"	"69988315"	"del"	"0"	"01740"	"MITF_000052"	"g.69988315del"	""	"{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69939164del"	""	"likely pathogenic"	""
"0000163086"	"11"	"90"	"3"	"70005620"	"70005622"	"del"	"0"	"00006"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}, {OMIM156845:0003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000163087"	"21"	"90"	"3"	"70001021"	"70001021"	"subst"	"0"	"00006"	"MITF_000054"	"g.70001021G>C"	""	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}, {OMIM156845:0010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69951870G>C"	""	"pathogenic"	""
"0000163088"	"11"	"90"	"3"	"70005620"	"70005622"	"del"	"0"	"00006"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}, {OMIM156845:0003}"	""	"952_954delAGA"	""	"Germline"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000163089"	"0"	"90"	"3"	"70001021"	"70001021"	"subst"	"0"	"00006"	"MITF_000054"	"g.70001021G>C"	""	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}, {OMIM156845:0010}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69951870G>C"	""	"pathogenic"	""
"0000163090"	"11"	"90"	"3"	"70005620"	"70005620"	"subst"	"0"	"00006"	"MITF_000044"	"g.70005620A>G"	""	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}, {OMIM156845:0011}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69956469A>G"	""	"pathogenic"	""
"0000163091"	"21"	"90"	"3"	"70005605"	"70005605"	"subst"	"0"	"00006"	"MITF_000056"	"g.70005605G>A"	""	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}, {OMIM156845:0012}"	""	"(Leu312fs*11)"	""	"Germline"	""	""	"0"	""	""	"g.69956454G>A"	""	"pathogenic"	""
"0000163092"	"0"	"90"	"3"	"70005605"	"70005605"	"subst"	"0"	"00006"	"MITF_000056"	"g.70005605G>A"	""	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}, {OMIM156845:0012}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69956454G>A"	""	"pathogenic"	""
"0000163093"	"11"	"90"	"3"	"70005620"	"70005620"	"subst"	"0"	"00006"	"MITF_000044"	"g.70005620A>G"	""	"{PMID:George 2016:27889061}, {DOI:George 2016:10.1016/j.ajhg.2016.11.004}, {OMIM156845:0011}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69956469A>G"	""	"pathogenic"	""
"0000249530"	"0"	"30"	"3"	"69988340"	"69988340"	"subst"	"2.03595E-5"	"02325"	"MITF_000066"	"g.69988340A>G"	""	""	""	"MITF(NM_198159.3):c.666+8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69939189A>G"	""	"likely benign"	""
"0000254876"	"0"	"30"	"3"	"70014312"	"70014312"	"subst"	"4.48299E-5"	"01943"	"MITF_000077"	"g.70014312A>C"	""	""	""	"MITF(NM_198159.2):c.1476A>C (p.P492=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69965161A>C"	""	"likely benign"	""
"0000255222"	"0"	"30"	"3"	"70013994"	"70013994"	"subst"	"0"	"01943"	"MITF_000075"	"g.70013994A>G"	""	""	""	"MITF(NM_198159.2):c.1162-4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69964843A>G"	""	"likely benign"	""
"0000279778"	"0"	"30"	"3"	"70005695"	"70005695"	"subst"	"0.000736473"	"02330"	"MITF_000071"	"g.70005695C>T"	""	""	""	"MITF(NM_000248.3):c.710+14C>T (p.(=)), MITF(NM_198159.3):c.1013+14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69956544C>T"	""	"likely benign"	""
"0000279779"	"0"	"10"	"3"	"70008420"	"70008420"	"subst"	"9.38324E-5"	"02330"	"MITF_000072"	"g.70008420G>A"	""	""	""	"MITF(NM_198159.3):c.1014-4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69959269G>A"	""	"benign"	""
"0000279780"	"0"	"10"	"3"	"70008575"	"70008575"	"subst"	"0.000146726"	"02330"	"MITF_000074"	"g.70008575C>T"	""	""	""	"MITF(NM_198159.3):c.1161+4C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69959424C>T"	""	"benign"	""
"0000279781"	"0"	"10"	"3"	"70014098"	"70014098"	"subst"	"0.000264056"	"02330"	"MITF_000076"	"g.70014098T>C"	""	""	""	"MITF(NM_000248.3):c.959T>C (p.(Val320Ala)), MITF(NM_001354607.1):c.1211T>C (p.V404A), MITF(NM_198159.3):c.1262T>C (p.V421A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69964947T>C"	""	"benign"	""
"0000279782"	"0"	"10"	"3"	"70014387"	"70014387"	"subst"	"0.00362582"	"02330"	"MITF_000078"	"g.70014387G>A"	""	""	""	"MITF(NM_198159.3):c.1551G>A (p.E517=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69965236G>A"	""	"benign"	""
"0000279783"	"0"	"10"	"3"	"69986984"	"69986984"	"subst"	"0.00288895"	"02330"	"MITF_000062"	"g.69986984C>T"	""	""	""	"MITF(NM_000248.3):c.45C>T (p.(His15=)), MITF(NM_198159.2):c.366C>T (p.H122=), MITF(NM_198159.3):c.366C>T (p.H122=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69937833C>T"	""	"benign"	""
"0000279786"	"0"	"10"	"3"	"69813068"	"69813068"	"subst"	"1.57038E-5"	"02330"	"MITF_000057"	"g.69813068T>C"	""	""	""	"MITF(NM_006722.2):c.76T>C (p.L26=), MITF(NM_006722.3):c.76T>C (p.L26=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69763917T>C"	""	"benign"	""
"0000279787"	"0"	"10"	"3"	"69998328"	"69998328"	"subst"	"0.00190386"	"02330"	"MITF_000068"	"g.69998328C>G"	""	""	""	"MITF(NM_000248.3):c.559+9C>G (p.(=)), MITF(NM_198159.3):c.880+9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69949177C>G"	""	"benign"	""
"0000279788"	"0"	"10"	"3"	"70000956"	"70000956"	"subst"	"0.000326044"	"02330"	"MITF_000069"	"g.70000956T>A"	""	""	""	"MITF(NM_198159.3):c.881-25T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69951805T>A"	""	"benign"	""
"0000282508"	"0"	"30"	"3"	"69988347"	"69988347"	"subst"	"0.000163176"	"02325"	"MITF_000067"	"g.69988347G>C"	""	""	""	"MITF(NM_198159.3):c.666+15G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69939196G>C"	""	"likely benign"	""
"0000283678"	"0"	"30"	"3"	"70008542"	"70008542"	"subst"	"0.000134435"	"02329"	"MITF_000073"	"g.70008542G>A"	""	""	""	"MITF(NM_001354607.1):c.1081G>A (p.A361T), MITF(NM_198159.3):c.1132G>A (p.A378T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69959391G>A"	""	"likely benign"	""
"0000283679"	"0"	"10"	"3"	"70014387"	"70014387"	"subst"	"0.00362582"	"02329"	"MITF_000078"	"g.70014387G>A"	""	""	""	"MITF(NM_198159.3):c.1551G>A (p.E517=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69965236G>A"	""	"benign"	""
"0000283680"	"0"	"10"	"3"	"69928510"	"69928510"	"subst"	"0.00450586"	"02329"	"MITF_000061"	"g.69928510G>A"	""	""	""	"MITF(NM_198159.3):c.330G>A (p.T110=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69879359G>A"	""	"benign"	""
"0000283681"	"0"	"30"	"3"	"69998328"	"69998328"	"subst"	"0.00190386"	"02329"	"MITF_000068"	"g.69998328C>G"	""	""	""	"MITF(NM_000248.3):c.559+9C>G (p.(=)), MITF(NM_198159.3):c.880+9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69949177C>G"	""	"likely benign"	""
"0000283682"	"0"	"30"	"3"	"70000982"	"70000982"	"subst"	"0"	"02329"	"MITF_000070"	"g.70000982G>A"	""	""	""	"MITF(NM_198159.3):c.882G>A (p.E294=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69951831G>A"	""	"likely benign"	""
"0000291824"	"0"	"50"	"3"	"69928287"	"69928287"	"subst"	"0"	"01943"	"MITF_000058"	"g.69928287G>T"	""	""	""	"MITF(NM_198159.2):c.107G>T (p.S36I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69879136G>T"	""	"VUS"	""
"0000291825"	"0"	"50"	"3"	"69928298"	"69928298"	"subst"	"0"	"01943"	"MITF_000059"	"g.69928298C>T"	""	""	""	"MITF(NM_198159.2):c.118C>T (p.H40Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69879147C>T"	""	"VUS"	""
"0000291826"	"0"	"50"	"3"	"69928499"	"69928499"	"subst"	"0"	"01943"	"MITF_000060"	"g.69928499C>T"	""	""	""	"MITF(NM_198159.2):c.319C>T (p.P107S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69879348C>T"	""	"VUS"	""
"0000291827"	"0"	"50"	"3"	"69988319"	"69988319"	"subst"	"2.44053E-5"	"01943"	"MITF_000043"	"g.69988319C>T"	""	""	""	"MITF(NM_000248.4):c.332C>T (p.A111V), MITF(NM_001354604.2):c.653C>T (p.(Ala218Val)), MITF(NM_198159.2):c.653C>T (p.A218V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69939168C>T"	""	"VUS"	""
"0000329506"	"0"	"50"	"3"	"69988319"	"69988319"	"subst"	"2.44053E-5"	"01804"	"MITF_000043"	"g.69988319C>T"	""	""	""	"MITF(NM_000248.4):c.332C>T (p.A111V), MITF(NM_001354604.2):c.653C>T (p.(Ala218Val)), MITF(NM_198159.2):c.653C>T (p.A218V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69939168C>T"	""	"VUS"	""
"0000338637"	"0"	"30"	"3"	"69998328"	"69998328"	"subst"	"0.00190386"	"02327"	"MITF_000068"	"g.69998328C>G"	""	""	""	"MITF(NM_000248.3):c.559+9C>G (p.(=)), MITF(NM_198159.3):c.880+9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69949177C>G"	""	"likely benign"	""
"0000338638"	"0"	"10"	"3"	"70014447"	"70014447"	"subst"	"0.0876474"	"02327"	"MITF_000090"	"g.70014447T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69965296T>C"	""	"benign"	""
"0000340395"	"0"	"90"	"3"	"70014048"	"70014048"	"subst"	"0"	"02327"	"MITF_000028"	"g.70014048G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69964897G>A"	""	"pathogenic"	""
"0000341713"	"0"	"90"	"3"	"69988315"	"69988315"	"subst"	"0"	"02327"	"MITF_000038"	"g.69988315C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69939164C>T"	""	"pathogenic"	""
"0000342250"	"0"	"90"	"3"	"70005611"	"70005611"	"subst"	"0"	"02327"	"MITF_000011"	"g.70005611C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69956460C>T"	""	"pathogenic"	""
"0000342302"	"0"	"90"	"3"	"70005639"	"70005639"	"subst"	"0"	"02327"	"MITF_000084"	"g.70005639G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69956488G>T"	""	"pathogenic"	""
"0000342557"	"0"	"90"	"3"	"70014016"	"70014016"	"subst"	"0"	"02327"	"MITF_000087"	"g.70014016C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69964865C>T"	""	"pathogenic"	""
"0000345239"	"0"	"90"	"3"	"70005608"	"70005608"	"subst"	"0"	"02327"	"MITF_000081"	"g.70005608G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69956457G>T"	""	"pathogenic"	""
"0000345330"	"0"	"30"	"3"	"70014000"	"70014000"	"subst"	"1.21935E-5"	"02327"	"MITF_000086"	"g.70014000A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69964849A>T"	""	"likely benign"	""
"0000346437"	"0"	"30"	"3"	"70008551"	"70008551"	"subst"	"6.92323E-5"	"02327"	"MITF_000085"	"g.70008551C>T"	""	""	""	"MITF(NM_001354607.1):c.1090C>T (p.H364Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.69959400C>T"	""	"likely benign"	""
"0000520623"	"0"	"30"	"3"	"69813060"	"69813060"	"subst"	"0"	"01943"	"MITF_000091"	"g.69813060C>T"	""	""	""	"MITF(NM_006722.2):c.68C>T (p.T23I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69763909C>T"	""	"likely benign"	""
"0000520624"	"0"	"30"	"3"	"69813068"	"69813068"	"subst"	"1.57038E-5"	"01943"	"MITF_000057"	"g.69813068T>C"	""	""	""	"MITF(NM_006722.2):c.76T>C (p.L26=), MITF(NM_006722.3):c.76T>C (p.L26=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69763917T>C"	""	"likely benign"	""
"0000520625"	"0"	"50"	"3"	"69928509"	"69928509"	"subst"	"0.000162933"	"02327"	"MITF_000092"	"g.69928509C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69879358C>T"	""	"VUS"	""
"0000520626"	"0"	"30"	"3"	"69986984"	"69986984"	"subst"	"0.00288895"	"01943"	"MITF_000062"	"g.69986984C>T"	""	""	""	"MITF(NM_000248.3):c.45C>T (p.(His15=)), MITF(NM_198159.2):c.366C>T (p.H122=), MITF(NM_198159.3):c.366C>T (p.H122=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69937833C>T"	""	"likely benign"	""
"0000520627"	"0"	"90"	"3"	"69987001"	"69987001"	"dup"	"0"	"01943"	"MITF_000093"	"g.69987001dup"	""	""	""	"MITF(NM_198159.2):c.383dupA (p.Y129Vfs*22)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69937850dup"	""	"pathogenic"	""
"0000520628"	"0"	"10"	"3"	"69987222"	"69987226"	"dup"	"0"	"02330"	"MITF_000094"	"g.69987222_69987226dup"	""	""	""	"MITF(NM_198159.3):c.582+21_582+25dupTCTCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69938071_69938075dup"	""	"benign"	""
"0000520629"	"0"	"30"	"3"	"69988305"	"69988305"	"subst"	"1.22005E-5"	"01943"	"MITF_000095"	"g.69988305C>T"	""	""	""	"MITF(NM_001354607.1):c.588C>T (p.N196=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69939154C>T"	""	"likely benign"	""
"0000520630"	"0"	"90"	"3"	"69998200"	"69998200"	"subst"	"0"	"02327"	"MITF_000096"	"g.69998200A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69949049A>G"	""	"pathogenic"	""
"0000520631"	"0"	"30"	"3"	"69998275"	"69998275"	"subst"	"7.31856E-5"	"01943"	"MITF_000097"	"g.69998275A>G"	""	""	""	"MITF(NM_198159.2):c.836A>G (p.N279S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69949124A>G"	""	"likely benign"	""
"0000520633"	"0"	"30"	"3"	"70008431"	"70008431"	"subst"	"0"	"02327"	"MITF_000099"	"g.70008431C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69959280C>T"	""	"likely benign"	""
"0000520634"	"0"	"70"	"3"	"70008488"	"70008488"	"subst"	"0"	"02329"	"MITF_000018"	"g.70008488C>T"	""	""	""	"MITF(NM_198159.3):c.1078C>T (p.R360*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69959337C>T"	""	"likely pathogenic"	""
"0000520635"	"0"	"50"	"3"	"70014076"	"70014076"	"subst"	"2.84416E-5"	"01943"	"MITF_000101"	"g.70014076C>T"	""	""	""	"MITF(NM_198159.2):c.1240C>T (p.R414W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69964925C>T"	""	"VUS"	""
"0000520641"	"0"	"30"	"3"	"70014154"	"70014154"	"subst"	"0"	"01943"	"MITF_000103"	"g.70014154A>G"	""	""	""	"MITF(NM_198159.2):c.1318A>G (p.T440A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69965003A>G"	""	"likely benign"	""
"0000520642"	"0"	"30"	"3"	"70014384"	"70014384"	"subst"	"0.00214564"	"01943"	"MITF_000104"	"g.70014384G>A"	""	""	""	"MITF(NM_198159.2):c.1548G>A (p.T516=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69965233G>A"	""	"likely benign"	""
"0000608868"	"0"	"30"	"3"	"69788786"	"69788786"	"subst"	"0.000111369"	"01943"	"MITF_000105"	"g.69788786T>C"	""	""	""	"MITF(NM_198159.2):c.38T>C (p.V13A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69739635T>C"	""	"likely benign"	""
"0000608869"	"0"	"30"	"3"	"69987093"	"69987093"	"subst"	"1.22031E-5"	"02327"	"MITF_000106"	"g.69987093C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69937942C>T"	""	"likely benign"	""
"0000608870"	"0"	"50"	"3"	"70014071"	"70014071"	"subst"	"0"	"02327"	"MITF_000107"	"g.70014071T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69964920T>C"	""	"VUS"	""
"0000630840"	"11"	"70"	"3"	"70014016"	"70014016"	"subst"	"0"	"02476"	"MITF_000087"	"g.70014016C>T"	"1/30 patients analysed in this study"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.69964865C>T"	""	"likely pathogenic (dominant)"	""
"0000639256"	"1"	"99"	"3"	"69985893"	"69985893"	"subst"	"0"	"00004"	"MITF_000042"	"g.69985893A>G"	""	"{DB:DVD}, {PMID:Chen 2010:20478267}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69936742A>G"	""	"pathogenic"	""
"0000639262"	"1"	"33"	"3"	"69990456"	"69990456"	"subst"	"0"	"00004"	"MITF_000108"	"g.69990456G>A"	""	"{DB:DVD}, {PMID:Chassaing 2016:26893459}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69941305G>A"	""	"likely benign"	""
"0000639263"	"1"	"99"	"3"	"69998200"	"69998200"	"subst"	"0"	"00004"	"MITF_000003"	"g.69998200A>C"	""	"{DB:DVD}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69949049A>C"	""	"pathogenic"	""
"0000639265"	"1"	"99"	"3"	"70000978"	"70000978"	"del"	"0"	"00004"	"MITF_000025"	"g.70000978del"	""	"{DB:DVD}, {PMID:Zhang 2012:23098757}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69951827del"	""	"pathogenic"	""
"0000639267"	"1"	"77"	"3"	"70001028"	"70001028"	"subst"	"0"	"00004"	"MITF_000109"	"g.70001028C>T"	""	"{DB:DVD}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69951877C>T"	""	"likely pathogenic"	""
"0000639268"	"1"	"99"	"3"	"70001033"	"70001033"	"subst"	"0"	"00004"	"MITF_000008"	"g.70001033C>G"	""	"{DB:DVD}, {PMID:TIietz 1963:13985019}, {PMID:Grill 2013:23787126}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69951882C>G"	""	"pathogenic"	""
"0000639269"	"1"	"99"	"3"	"70001038"	"70001038"	"subst"	"0"	"00004"	"MITF_000009"	"g.70001038G>A"	""	"{DB:DVD}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69951887G>A"	""	"pathogenic"	""
"0000639271"	"1"	"99"	"3"	"70005607"	"70005607"	"subst"	"0"	"00004"	"MITF_000110"	"g.70005607T>G"	""	"{DB:DVD}, {PMID:Grill 2013:23787126}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69956456T>G"	""	"pathogenic"	""
"0000639276"	"1"	"99"	"3"	"70005620"	"70005620"	"subst"	"0"	"00004"	"MITF_000044"	"g.70005620A>G"	""	"{DB:DVD}, {PMID:Chen 2010:20478267}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69956469A>G"	""	"pathogenic"	""
"0000639277"	"1"	"99"	"3"	"70005621"	"70005621"	"subst"	"0"	"00004"	"MITF_000026"	"g.70005621G>T"	""	"{DB:DVD}, {PMID:Feng 2007:18229597}, {PMID:Zhang 2012:23098757}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69956470G>T"	""	"pathogenic"	""
"0000639279"	"1"	"99"	"3"	"70005670"	"70005671"	"del"	"0"	"00004"	"MITF_000111"	"g.70005670_70005671del"	""	"{DB:DVD}, {PMID:Lautenschlager 1996:8880147}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69956519_69956520del"	""	"pathogenic"	""
"0000639280"	"1"	"99"	"3"	"70005682"	"70005682"	"subst"	"0"	"00004"	"MITF_000015"	"g.70005682G>A"	""	"{DB:DVD}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69956531G>A"	""	"pathogenic"	""
"0000639281"	"1"	"99"	"3"	"70005686"	"70005686"	"subst"	"0"	"00004"	"MITF_000016"	"g.70005686G>T"	""	"{DB:DVD}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69956535G>T"	""	"pathogenic"	""
"0000639286"	"1"	"99"	"3"	"70008488"	"70008488"	"subst"	"0"	"00004"	"MITF_000018"	"g.70008488C>T"	""	"{DB:DVD}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69959337C>T"	""	"pathogenic"	""
"0000639291"	"1"	"99"	"3"	"70014031"	"70014031"	"subst"	"3.25018E-5"	"00004"	"MITF_000021"	"g.70014031T>C"	""	"{DB:DVD}, {PMID:Takeda 2000:10587587}, {PMID:Grill 2013:23787126}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69964880T>C"	""	"pathogenic"	""
"0000639293"	"1"	"55"	"3"	"70014091"	"70014091"	"subst"	"0.00135687"	"00004"	"MITF_000102"	"g.70014091G>A"	""	"{DB:DVD}, {PMID:Hampel 2015:25394175}, {PMID:Yokoyama 2011:22080950}, {PMID:Bertolotto 2011:22012259}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69964940G>A"	""	"VUS"	""
"0000639294"	"1"	"77"	"3"	"70014098"	"70014098"	"subst"	"0.000264056"	"00004"	"MITF_000076"	"g.70014098T>C"	""	"{DB:DVD}, {PMID:Hatvani 2014:24660985}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69964947T>C"	""	"likely pathogenic"	""
"0000640279"	"1"	"99"	"3"	"70005611"	"70005611"	"subst"	"0"	"00004"	"MITF_000011"	"g.70005611C>T"	""	"{DB:DVD}, {PMID:Xiong 2015:25525159}"	""	""	""	"SUMMARY record"	""	""	"0"	""	""	"g.69956460C>T"	""	"pathogenic"	""
"0000655015"	"0"	"30"	"3"	"70008542"	"70008542"	"subst"	"0.000134435"	"01943"	"MITF_000073"	"g.70008542G>A"	""	""	""	"MITF(NM_001354607.1):c.1081G>A (p.A361T), MITF(NM_198159.3):c.1132G>A (p.A378T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.69959391G>A"	""	"likely benign"	""
"0000677081"	"0"	"30"	"3"	"69915472"	"69915472"	"subst"	"0.000134129"	"01943"	"MITF_000112"	"g.69915472C>T"	""	""	""	"MITF(NM_198177.2):c.31C>T (p.P11S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677082"	"0"	"90"	"3"	"70005682"	"70005682"	"subst"	"0"	"01943"	"MITF_000015"	"g.70005682G>A"	""	""	""	"MITF(NM_198159.2):c.1013+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000689146"	"0"	"30"	"3"	"69813078"	"69813078"	"subst"	"9.69211E-5"	"01943"	"MITF_000113"	"g.69813078G>A"	""	""	""	"MITF(NM_006722.2):c.86G>A (p.C29Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000689147"	"0"	"30"	"3"	"69987137"	"69987137"	"subst"	"2.44168E-5"	"01943"	"MITF_000114"	"g.69987137G>A"	""	""	""	"MITF(NM_001354607.1):c.468G>A (p.P156=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000698917"	"1"	"99"	"3"	"69985907"	"69985907"	"subst"	"0"	"03808"	"MITF_000001"	"g.69985907G>A"	""	"{PMID:Tassabehji 1994:7874167}"	""	"NM_000248.3: GT>AG donor splice site at the end of exon 1"	"These 2 families are possibly related"	"Germline"	""	""	"0"	""	""	"g.69936756G>A"	""	"pathogenic"	""
"0000698918"	"1"	"99"	"3"	"69985907"	"69985907"	"subst"	"0"	"03808"	"MITF_000001"	"g.69985907G>A"	""	"{PMID:Tassabehji 1995:8589691}"	""	"NM_000248.3: nt 153+1 G>A"	"These 2 families are possibly related"	"Germline"	""	""	"0"	""	""	"g.69936756G>A"	""	"pathogenic"	""
"0000698919"	"0"	"99"	"3"	"69990452"	"69990452"	"del"	"0"	"03808"	"MITF_000002"	"g.69990452del"	""	"{PMID:Pingault 2010:20127975}"	""	"NM_000248.3: 411delG"	""	"Germline"	""	""	"0"	""	""	"g.69941301del"	""	"pathogenic"	""
"0000698920"	"1"	"99"	"3"	"69998200"	"69998200"	"subst"	"0"	"03808"	"MITF_000003"	"g.69998200A>C"	""	"{PMID:Tassabehji 1994:7874167}"	""	"NM_000248.3: AG>CG acceptor splice site at the end of intron 4"	""	"Germline"	""	""	"0"	""	""	"g.69949049A>C"	""	"pathogenic"	""
"0000698921"	"1"	"99"	"3"	"69998201"	"69998201"	"subst"	"0"	"03808"	"MITF_000004"	"g.69998201G>C"	""	"{PMID:Monma 2008:18595666}"	""	"NM_000248.3: IVS4-1G>C"	"splice effect verified on RNA"	"Germline"	""	""	"0"	""	""	"g.69949050G>C"	""	"pathogenic"	""
"0000698922"	"1"	"33"	"3"	"69998243"	"69998243"	"subst"	"0"	"03808"	"MITF_000005"	"g.69998243A>T"	""	"{PMID:Pingault 2010:20127975}"	""	"NM_000248.3: 483A>T"	"Does not cosegregate with the disease"	"Germline"	""	""	"0"	""	""	"g.69949092A>T"	""	"likely benign"	""
"0000698923"	"1"	"99"	"3"	"70000982"	"70000983"	"del"	"0"	"03808"	"MITF_000006"	"g.70000982_70000983del"	""	"{PMID:Lautenschlager 1996:8880147}"	""	"NM_000248.3: 2bp del (GT) at nt 699"	""	"Germline"	""	""	"0"	""	""	"g.69951831_69951832del"	""	"pathogenic"	""
"0000698924"	"1"	"33"	"3"	"70001011"	"70001011"	"subst"	"0"	"03808"	"MITF_000007"	"g.70001011G>A"	""	"{PMID:Tassabehji 1995:8589691}"	""	"NM_000248.3: 608G>A"	"Does not cosegregate with the disease"	"Germline"	""	""	"0"	""	""	"g.69951860G>A"	""	"likely benign"	""
"0000698925"	"1"	"77"	"3"	"70001033"	"70001033"	"subst"	"0"	"03808"	"MITF_000008"	"g.70001033C>G"	""	"{PMID:Smith 2000:10851256}"	""	"NM_000248.3: G to C at nt 600; Asn210Lys"	""	"Germline"	""	""	"0"	""	""	"g.69951882C>G"	""	"likely pathogenic"	""
"0000698926"	"1"	"99"	"3"	"70001038"	"70001038"	"subst"	"0"	"03808"	"MITF_000009"	"g.70001038G>A"	""	"{PMID:Pingault 2010:20127975}"	""	"NM_000248.3: 634+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.69951887G>A"	""	"pathogenic"	""
"0000698927"	"1"	"99"	"3"	"70005610"	"70005610"	"del"	"0"	"03808"	"MITF_000010"	"g.70005610del"	""	"{PMID:Chen 2008:18424413}"	""	"NM_000248.3: 639delA"	""	"Germline"	""	""	"0"	""	""	"g.69956459del"	""	"pathogenic"	""
"0000698928"	"1"	"99"	"3"	"70005611"	"70005611"	"subst"	"0"	"03808"	"MITF_000011"	"g.70005611C>T"	""	"{PMID:Nobukuni 1996:8659547}"	""	"NM_000248.3: C760>T"	"Carried by different haplotypes"	"Germline"	""	""	"0"	""	""	"g.69956460C>T"	""	"pathogenic"	""
"0000698929"	"1"	"99"	"3"	"70005611"	"70005611"	"subst"	"0"	"03808"	"MITF_000011"	"g.70005611C>T"	""	"{PMID:Lalwani 1998:9856573}"	""	"NM_000248.3: C760>T"	"Carried by different haplotypes"	"Germline"	""	""	"0"	""	""	"g.69956460C>T"	""	"pathogenic"	""
"0000698930"	"0"	"77"	"3"	"70005618"	"70005618"	"subst"	"0"	"03808"	"MITF_000012"	"g.70005618G>A"	""	"{PMID:Pingault 2010:20127975}"	""	"NM_000248.3: 647G>A"	""	"De novo"	""	""	"0"	""	""	"g.69956467G>A"	""	"likely pathogenic"	""
"0000698931"	"1"	"79"	"3"	"70005620"	"70005622"	"del"	"0"	"03808"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:Tassabehji 1995:8589691}"	""	"NM_000248.3: del (R217)"	""	"Germline"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"likely pathogenic"	""
"0000698932"	"0"	"99"	"3"	"70005620"	"70005622"	"del"	"0"	"03808"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:Izumi 2008:18510545}"	""	"NM_000248.3: del (R217)"	""	"De novo"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000698933"	"1"	"99"	"3"	"70005620"	"70005622"	"del"	"0"	"03808"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:Pingault 2010:20127975}"	""	"NM_000248.3: 649_651delAGA"	""	"Germline"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000698934"	"1"	"77"	"3"	"70005642"	"70005642"	"subst"	"0"	"03808"	"MITF_000014"	"g.70005642T>G"	""	"{PMID:Pingault 2010:20127975}"	""	"NM_000248.3: 671T>G"	""	"Germline"	""	""	"0"	""	""	"g.69956491T>G"	""	"likely pathogenic"	""
"0000698935"	"0"	"99"	"3"	"70005682"	"70005682"	"subst"	"0"	"03808"	"MITF_000015"	"g.70005682G>A"	""	"{PMID:Pingault 2010:20127975}"	""	"NM_000248.3: 710+1G>A"	""	"Unknown"	""	""	"0"	""	""	"g.69956531G>A"	""	"pathogenic"	""
"0000698936"	"0"	"77"	"3"	"70005686"	"70005686"	"subst"	"0"	"03808"	"MITF_000016"	"g.70005686G>T"	""	"{PMID:Pingault 2010:20127975}, {PMID:Haddad 2011:21373256}"	""	"NM_000248.3: 710+5G>T"	"In silico analysis predicts a possible loss of splice site"	"Germline"	""	""	"0"	""	""	"g.69956535G>T"	""	"likely pathogenic"	""
"0000698937"	"1"	"77"	"3"	"70008461"	"70008461"	"subst"	"0"	"03808"	"MITF_000017"	"g.70008461T>C"	""	"{PMID:Tassabehji 1995:8589691}"	""	"NM_000248.3: 748T>C"	""	"Germline"	""	""	"0"	""	""	"g.69959310T>C"	""	"likely pathogenic"	""
"0000698938"	"0"	"77"	"3"	"70008471"	"70008471"	"subst"	"0"	"03808"	"MITF_000023"	"g.70008471A>G"	""	"{PMID:Read 1997:9279758}"	""	"NM_000248.3: Y253C"	""	"Germline"	""	""	"0"	""	""	"g.69959320A>G"	""	"likely pathogenic"	""
"0000698939"	"1"	"99"	"3"	"70008488"	"70008488"	"subst"	"0"	"03808"	"MITF_000018"	"g.70008488C>T"	""	"{PMID:Nobukuni 1996:8659547}"	""	"NM_000248.3: C895>T"	""	"Germline"	""	""	"0"	""	""	"g.69959337C>T"	""	"pathogenic"	""
"0000698940"	"1"	"99"	"3"	"70008488"	"70008488"	"subst"	"0"	"03808"	"MITF_000018"	"g.70008488C>T"	""	"{PMID:Pingault 2010:20127975}"	""	"NM_000248.3: 775C>T"	""	"Germline"	""	""	"0"	""	""	"g.69959337C>T"	""	"pathogenic"	""
"0000698941"	"0"	"99"	"3"	"70008519"	"70008519"	"del"	"0"	"03808"	"MITF_000019"	"g.70008519del"	""	"{PMID:Pingault 2010:20127975}"	""	"NM_000248.3: 806delA"	""	"Germline"	""	""	"0"	""	""	"g.69959368del"	""	"pathogenic"	""
"0000698942"	"1"	"99"	"3"	"70008537"	"70008537"	"del"	"0"	"03808"	"MITF_000020"	"g.70008537del"	""	"{PMID:Morell 1997:9158138}"	""	"NM_000248.3: delA at nt 944 (codon 275)"	""	"Germline"	""	""	"0"	""	""	"g.69959386del"	""	"pathogenic"	""
"0000698943"	"11"	"77"	"3"	"70008545"	"70008545"	"subst"	"0"	"03808"	"MITF_000024"	"g.70008545A>G"	""	"{PMID:Tassabehji 1995:8589691}"	""	"NM_000248.3: 832A>G"	"Inherited from an unaffected father"	"Unknown"	""	""	"0"	""	""	"g.69959394A>G"	""	"likely pathogenic"	""
"0000698944"	"1"	"73"	"3"	"70014031"	"70014031"	"subst"	"3.25018E-5"	"03808"	"MITF_000021"	"g.70014031T>C"	"0.0003"	"{PMID:Tassabehji 1995:8589691}"	""	"NM_000248.3: 892T>C"	"initially reported disease-causing riant, no loss of function in in vitro tests PMID23787126:Grill 2013; allele frequency isfrom Exome Variant Server"	"Germline"	""	"rs104893747"	"0"	""	""	"g.69964880T>C"	""	"likely pathogenic"	""
"0000698945"	"0"	"99"	"3"	"70005620"	"70005622"	"del"	"0"	"03808"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:Chiang 2009:19938076}"	""	"NM_000248.3: del p.R217"	""	"Germline"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000698946"	"0"	"99"	"3"	"70000978"	"70000978"	"del"	"0"	"03808"	"MITF_000025"	"g.70000978del"	""	"{PMID:Chen 2010:20478267}"	""	"NM_000248.3: 575delC (Thr192Lysfs*20)"	""	"Germline"	""	""	"0"	""	""	"g.69951827del"	""	"pathogenic"	""
"0000698947"	"0"	"99"	"3"	"70005620"	"70005622"	"del"	"0"	"03808"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:Chen 2010:20478267}"	""	"NM_000248.3: 648_650delAAG"	""	"Unknown"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000698948"	"0"	"99"	"3"	"70005620"	"70005622"	"del"	"0"	"03808"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:Chen 2010:20478267}"	""	"NM_000248.3: 648_650delAAG"	""	"Unknown"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000698949"	"0"	"99"	"3"	"70005620"	"70005622"	"del"	"0"	"03808"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:Chen 2010:20478267}"	""	"NM_000248.3: 648_650delAAG"	""	"Unknown"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000698950"	"0"	"97"	"3"	"70005621"	"70005621"	"subst"	"0"	"03808"	"MITF_000026"	"g.70005621G>T"	""	"{PMID:Chen 2010:20478267}"	""	"NM_000248.3: Arg to Ile at 217"	""	"Unknown"	""	""	"0"	""	""	"g.69956470G>T"	""	"pathogenic"	""
"0000698951"	"0"	"99"	"3"	"70005620"	"70005622"	"del"	"0"	"03808"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:Shigemura 2010:20485200}"	""	"NM_000248.3: deletion at 647 to 649 (TTC) ; delR217"	"Loss of the transactivation capabilities on the tyrosinase gene promoter"	"Germline"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000698952"	"0"	"77"	"3"	"69985911"	"69985911"	"subst"	"0"	"03808"	"MITF_000027"	"g.69985911G>C"	""	"{PMID:Haddad 2011:21373256}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.69936760G>C"	""	"likely pathogenic"	""
"0000698953"	"0"	"99"	"3"	"70014048"	"70014048"	"subst"	"0"	"03808"	"MITF_000028"	"g.70014048G>A"	""	"{PMID:Brenner 2011:21438779}"	""	"NM_000248.3: 1212G>A, Thr404Thr"	"Splice effect verified on RNA"	"Germline"	""	""	"0"	""	""	"g.69964897G>A"	""	"pathogenic"	""
"0000698954"	"0"	"77"	"3"	"70001019"	"70001019"	"subst"	"0"	"03808"	"MITF_000029"	"g.70001019A>C"	""	"{PMID:Leger 2012:22258527}"	""	"NM_000248.3: 616A>C"	""	"Germline"	""	""	"0"	""	""	"g.69951868A>C"	""	"likely pathogenic"	""
"0000698955"	"0"	"77"	"3"	"70005606"	"70005606"	"subst"	"0"	"03808"	"MITF_000030"	"g.70005606T>G"	""	"{PMID:Leger 2012:22258527}"	""	"NM_000248.3: 635T>G"	""	"Germline"	""	""	"0"	""	""	"g.69956455T>G"	""	"likely pathogenic"	""
"0000698956"	"1"	"77"	"3"	"70005610"	"70005610"	"subst"	"0"	"03808"	"MITF_000032"	"g.70005610A>C"	""	""	""	"NM_000248.3: 639A>C"	""	"De novo"	""	""	"0"	""	""	"g.69956459A>C"	""	"likely pathogenic"	""
"0000698957"	"0"	"77"	"3"	"70005621"	"70005621"	"subst"	"0"	"03808"	"MITF_000026"	"g.70005621G>T"	""	"{PMID:Leger 2012:22258527}"	""	"NM_000248.3: 650G>T"	""	"Germline"	""	""	"0"	""	""	"g.69956470G>T"	""	"likely pathogenic"	""
"0000698958"	"0"	"99"	"3"	"0"	"0"	""	"0"	"03808"	"MITF_000033"	"g.?"	""	"{PMID:Schwarzbraun 2007:17318840}"	""	"3p interstitial deletion"	"whole gene deletion"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698959"	"1"	"99"	"3"	"69915441"	"70014127"	"del"	"0"	"03808"	"MITF_000034"	"g.(?_69915441)_(70014127_?)del"	""	"{PMID:Milunsky 2007:17627390}"	""	"deletion ex 3-10"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698960"	"11"	"99"	"3"	"70008476"	"70008476"	"subst"	"0"	"03808"	"MITF_000036"	"g.70008476C>T"	""	"{PMID:Yang 2013:22320238}"	""	"NM_000248.3: 763C>T"	""	"Germline"	""	""	"0"	""	""	"g.69959325C>T"	""	"pathogenic"	""
"0000698961"	"11"	"99"	"3"	"70008455"	"70008460"	"delins"	"0"	"03808"	"MITF_000035"	"g.70008455_70008460delinsTAG"	""	"{PMID:Yan 2011:22196401}"	""	"NM_000248.3: [742_743delAAinsT;746_747delCA]"	""	"Germline"	""	""	"0"	""	""	"g.69959304_69959309delinsTAG"	""	"pathogenic"	""
"0000698962"	"10"	"75"	"3"	"69985901"	"69985901"	"subst"	"0"	"03808"	"MITF_000037"	"g.69985901T>A"	""	"{PMID:Wildhardt 2013:23512835}"	""	"NM_000248.3: [28T>A;33+6_33+12del]"	""	"Germline"	""	""	"0"	""	""	"g.69936750T>A"	""	"likely pathogenic"	""
"0000698963"	"0"	"99"	"3"	"69988315"	"69988315"	"subst"	"0"	"03808"	"MITF_000038"	"g.69988315C>T"	""	"{PMID:Wildhardt 2013:23512835}"	""	"NM_000248.3: 328C>T"	""	"Germline"	""	""	"0"	""	""	"g.69939164C>T"	""	"pathogenic"	""
"0000698964"	"0"	"77"	"3"	"70005621"	"70005621"	"subst"	"0"	"03808"	"MITF_000026"	"g.70005621G>T"	""	"{PMID:Wildhardt 2013:23512835}"	""	"NM_000248.3: 650G>T"	""	"De novo"	""	""	"0"	""	""	"g.69956470G>T"	""	"likely pathogenic"	""
"0000698965"	"0"	"75"	"3"	"1"	"69915421"	""	"0"	"03808"	"MITF_000039"	"g.?_(69915421_?)dup"	""	"{PMID:Wildhardt 2013:23512835}"	""	"?_1-70453dup"	"physiological role duplication is unclear"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698966"	"0"	"99"	"3"	"69915441"	"70014127"	"del"	"0"	"03808"	"MITF_000040"	"g.(?_69915441)_(70014127_?)del"	""	"{PMID:Wildhardt 2013:23512835}"	""	"1-70433_?_(988_?)del"	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698967"	"0"	"77"	"3"	"70008561"	"70008561"	"subst"	"0"	"03808"	"MITF_000041"	"g.70008561T>C"	""	"{PMID:Grill 2013:23787126}"	""	"NM_000248.3: 848T>C"	"In vitro loss of function"	"Germline"	""	""	"0"	""	""	"g.69959410T>C"	""	"likely pathogenic"	""
"0000698968"	"11"	"35"	"3"	"69985893"	"69985893"	"subst"	"0"	"03808"	"MITF_000042"	"g.69985893A>G"	""	"{PMID:Yang 2013:24194866}"	""	"NM_000248.3: 20A>G"	"likely neutral variant"	"Germline"	""	""	"0"	""	""	"g.69936742A>G"	""	"likely benign"	""
"0000698969"	"0"	"33"	"3"	"69988319"	"69988319"	"subst"	"2.44053E-5"	"03808"	"MITF_000043"	"g.69988319C>T"	"0.0005"	"{PMID:Yang 2013:24194866}"	""	"NM_000248.3: 332C>T"	""	"Unknown"	""	"rs182533927"	"0"	""	""	"g.69939168C>T"	""	"likely benign"	""
"0000698970"	"0"	"99"	"3"	"70005620"	"70005622"	"del"	"0"	"03808"	"MITF_000013"	"g.70005620_70005622del"	""	"{PMID:Yang 2013:24194866}"	""	"NM_000248.3: 647_649delGAA"	""	"De novo"	""	""	"0"	""	""	"g.69956469_69956471del"	""	"pathogenic"	""
"0000698971"	"0"	"77"	"3"	"70005620"	"70005620"	"subst"	"0"	"03808"	"MITF_000044"	"g.70005620A>G"	""	"{PMID:Yang 2013:24194866}"	""	"NM_000248.3: 649A>G"	""	"Unknown"	""	""	"0"	""	""	"g.69956469A>G"	""	"likely pathogenic"	""
"0000698972"	"11"	"99"	"3"	"70008476"	"70008476"	"subst"	"0"	"03808"	"MITF_000036"	"g.70008476C>T"	""	"{PMID:Yang 2013:22320238}"	""	"NM_000248.3: 763C>T"	""	"Germline"	""	""	"0"	""	""	"g.69959325C>T"	""	"pathogenic"	""
"0000698977"	"1"	"30"	"3"	"70014072"	"70014072"	"del"	"0"	"03808"	"MITF_000115"	"g.70014072del"	""	"{PMID:Leger 2012:22258527}"	""	"635-5delT"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000698978"	"10"	"30"	"3"	"69985912"	"69985918"	"del"	"0"	"03808"	"MITF_000116"	"g.69985912_69985918del"	""	"{PMID:Wildhardt 2013:23512835}"	""	"[28T>A;33+6_33+12del]"	""	"Germline"	""	""	"0"	""	""	""	""	"likely benign"	""
"0000719603"	"0"	"30"	"3"	"69928525"	"69928525"	"subst"	"0.000236468"	"01943"	"MITF_000117"	"g.69928525A>G"	""	""	""	"MITF(NM_001354607.1):c.294A>G (p.E98=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719604"	"0"	"50"	"3"	"69987070"	"69987070"	"subst"	"0"	"01943"	"MITF_000118"	"g.69987070A>C"	""	""	""	"MITF(NM_001354607.1):c.401A>C (p.H134P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719605"	"0"	"30"	"3"	"70014098"	"70014098"	"subst"	"0.000264056"	"01943"	"MITF_000076"	"g.70014098T>C"	""	""	""	"MITF(NM_000248.3):c.959T>C (p.(Val320Ala)), MITF(NM_001354607.1):c.1211T>C (p.V404A), MITF(NM_198159.3):c.1262T>C (p.V421A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000732629"	"0"	"50"	"3"	"70008436"	"70008436"	"dup"	"0"	"03388"	"MITF_000119"	"g.70008436dup"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"likely pathogenic"	"ACMG"
"0000795501"	"0"	"90"	"3"	"70005605"	"70005605"	"subst"	"0"	"04006"	"MITF_000056"	"g.70005605G>A"	""	"{PMID:Batissoco 2021:34599368}"	""	""	""	"De novo"	"yes"	""	"0"	""	""	"g.69956454G>A"	"{CV-SCV:001792240}"	"pathogenic (dominant)"	"ACMG"
"0000796077"	"11"	"70"	"3"	"70008462"	"70008462"	"subst"	"0"	"04006"	"MITF_000120"	"g.70008462C>A"	""	"{PMID:Batissoco 2021:34599368}"	""	""	""	"Germline"	"yes"	""	""	""	""	""	"{CV-SCV:001792231}"	"likely pathogenic (dominant)"	"ACMG"
"0000796078"	"0"	"70"	"3"	"70008462"	"70008462"	"subst"	"0"	"04006"	"MITF_000120"	"g.70008462C>A"	""	"{PMID:Batissoco 2021:34599368}"	""	""	""	"Unknown"	"yes"	""	""	""	""	""	"{CV-SCV:001792231}"	"likely pathogenic (dominant)"	"ACMG"
"0000796588"	"0"	"70"	"3"	"69988310"	"69988310"	"dup"	"0"	"04006"	"MITF_000121"	"g.69988310dup"	""	"{PMID:Batissoco 2021:34599368}"	""	"323_324insA"	""	"De novo"	"yes"	""	"0"	""	""	"g.69939159dup"	"{CV-SCV:001792233}"	"pathogenic (dominant)"	"ACMG"
"0000801369"	"0"	"50"	"3"	"69813020"	"69813020"	"subst"	"0"	"01943"	"MITF_000122"	"g.69813020G>C"	""	""	""	"MITF(NM_006722.2):c.28G>C (p.V10L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801370"	"0"	"30"	"3"	"69988354"	"69988354"	"subst"	"8.17441E-6"	"02369"	"MITF_000123"	"g.69988354T>C"	""	""	""	"MITF(NM_000248.3):c.345+22T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801371"	"0"	"30"	"3"	"69998210"	"69998210"	"subst"	"0"	"01943"	"MITF_000124"	"g.69998210C>A"	""	""	""	"MITF(NM_001354607.1):c.720C>A (p.V240=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801372"	"0"	"50"	"3"	"69998233"	"69998233"	"subst"	"4.0663E-6"	"01943"	"MITF_000125"	"g.69998233A>G"	""	""	""	"MITF(NM_001354607.1):c.743A>G (p.Y248C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801373"	"0"	"50"	"3"	"70008551"	"70008551"	"subst"	"6.92323E-5"	"01943"	"MITF_000085"	"g.70008551C>T"	""	""	""	"MITF(NM_001354607.1):c.1090C>T (p.H364Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801375"	"0"	"30"	"3"	"70014114"	"70014114"	"subst"	"0"	"01943"	"MITF_000126"	"g.70014114C>T"	""	""	""	"MITF(NM_001354607.1):c.1227C>T (p.S409=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000814967"	"0"	"70"	"3"	"70005682"	"70005682"	"subst"	"0"	"00000"	"MITF_000015"	"g.70005682G>A"	""	"{PMID:Birtel 2020:32013026}"	""	"MITF c.710+1G>A, splice"	"different transcript: NM_000248.3(MITF):c.710+1G>A, heterozygous"	"De novo"	"?"	""	"0"	""	""	"g.69956531G>A"	""	"likely pathogenic"	""
"0000850411"	"0"	"50"	"3"	"69987018"	"69987018"	"subst"	"0"	"01943"	"MITF_000127"	"g.69987018G>A"	""	""	""	"MITF(NM_001354607.1):c.349G>A (p.A117T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850412"	"0"	"90"	"3"	"70008488"	"70008488"	"subst"	"0"	"02327"	"MITF_000018"	"g.70008488C>T"	""	""	""	"MITF(NM_198159.3):c.1078C>T (p.R360*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000859129"	"0"	"50"	"3"	"69986984"	"69986984"	"subst"	"0.00288895"	"01804"	"MITF_000062"	"g.69986984C>T"	""	""	""	"MITF(NM_000248.3):c.45C>T (p.(His15=)), MITF(NM_198159.2):c.366C>T (p.H122=), MITF(NM_198159.3):c.366C>T (p.H122=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859130"	"0"	"50"	"3"	"70008443"	"70008443"	"subst"	"0"	"02327"	"MITF_000128"	"g.70008443G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000876609"	"0"	"70"	"3"	"70001029"	"70001029"	"subst"	"0"	"04294"	"MITF_000129"	"g.70001029A>T"	""	""	""	""	""	"Germline/De novo (untested)"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000885978"	"0"	"90"	"3"	"69998226"	"69998226"	"del"	"0"	"02327"	"MITF_000130"	"g.69998226del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000885979"	"0"	"30"	"3"	"69998243"	"69998243"	"subst"	"0"	"02330"	"MITF_000005"	"g.69998243A>T"	""	""	""	"MITF(NM_000248.3):c.483A>T (p.(Gln161His)), MITF(NM_001354607.2):c.753A>T (p.Q251H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000885980"	"0"	"90"	"3"	"70008476"	"70008476"	"subst"	"0"	"02327"	"MITF_000036"	"g.70008476C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000915781"	"0"	"90"	"3"	"70014091"	"70014091"	"subst"	"0.00135687"	"01082"	"MITF_000102"	"g.70014091G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.69964940G>A"	"29792"	"pathogenic"	"ACMG"
"0000923990"	"0"	"90"	"3"	"70005682"	"70005682"	"subst"	"0"	"02327"	"MITF_000015"	"g.70005682G>A"	""	""	""	"MITF(NM_198159.2):c.1013+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000928824"	"0"	"50"	"3"	"70014166"	"70014166"	"subst"	"0"	"01804"	"MITF_000131"	"g.70014166C>T"	""	""	""	"MITF(NM_000248.3):c.1027C>T (p.(Leu343Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000944335"	"0"	"70"	"3"	"69988333"	"69988333"	"subst"	"0"	"00006"	"MITF_000132"	"g.69988333G>T"	""	"{PMID:Boucher 2020:33229591}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.69939182G>T"	""	"likely pathogenic (dominant)"	""
"0000948213"	"0"	"30"	"3"	"69998328"	"69998328"	"subst"	"0.00190386"	"01804"	"MITF_000068"	"g.69998328C>G"	""	""	""	"MITF(NM_000248.3):c.559+9C>G (p.(=)), MITF(NM_198159.3):c.880+9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948214"	"0"	"70"	"3"	"70008423"	"70008423"	"del"	"0"	"02327"	"MITF_000133"	"g.70008423del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000962888"	"0"	"30"	"3"	"69987691"	"69987691"	"subst"	"0"	"01804"	"MITF_000134"	"g.69987691G>A"	""	""	""	"MITF(NM_001184968.1):c.*174G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000962889"	"0"	"70"	"3"	"70001016"	"70001016"	"subst"	"0"	"02327"	"MITF_000135"	"g.70001016A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000975983"	"0"	"30"	"3"	"69845665"	"69845668"	"del"	"0"	"01804"	"MITF_000136"	"g.69845665_69845668del"	""	""	""	"MITF(NM_001184967.1):c.-53+32804_-53+32807del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975984"	"0"	"70"	"3"	"69998212"	"69998212"	"subst"	"0"	"02327"	"MITF_000137"	"g.69998212C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000975985"	"0"	"30"	"3"	"70005695"	"70005695"	"subst"	"0.000736473"	"01804"	"MITF_000071"	"g.70005695C>T"	""	""	""	"MITF(NM_000248.3):c.710+14C>T (p.(=)), MITF(NM_198159.3):c.1013+14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975986"	"0"	"50"	"3"	"70014295"	"70014295"	"subst"	"1.222E-5"	"01804"	"MITF_000138"	"g.70014295G>A"	""	""	""	"MITF(NM_001354604.2):c.1477G>A (p.(Val493Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993890"	"0"	"30"	"3"	"69845664"	"69845668"	"del"	"0"	"01804"	"MITF_000139"	"g.69845664_69845668del"	""	""	""	"MITF(NM_000248.3):c.-140228_-140224del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993891"	"0"	"30"	"3"	"69845667"	"69845668"	"del"	"0"	"01804"	"MITF_000140"	"g.69845667_69845668del"	""	""	""	"MITF(NM_000248.3):c.-140225_-140224del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993892"	"0"	"50"	"3"	"69998243"	"69998243"	"subst"	"0"	"01804"	"MITF_000005"	"g.69998243A>T"	""	""	""	"MITF(NM_000248.3):c.483A>T (p.(Gln161His)), MITF(NM_001354607.2):c.753A>T (p.Q251H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000993893"	"0"	"30"	"3"	"70005640"	"70005640"	"subst"	"1.62688E-5"	"02329"	"MITF_000141"	"g.70005640C>T"	""	""	""	"MITF(NM_198159.3):c.972C>T (p.R324=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993894"	"0"	"30"	"3"	"70014098"	"70014098"	"subst"	"0.000264056"	"01804"	"MITF_000076"	"g.70014098T>C"	""	""	""	"MITF(NM_000248.3):c.959T>C (p.(Val320Ala)), MITF(NM_001354607.1):c.1211T>C (p.V404A), MITF(NM_198159.3):c.1262T>C (p.V421A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034164"	"0"	"10"	"3"	"69843537"	"69843537"	"subst"	"0"	"02327"	"MITF_000142"	"g.69843537G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001034165"	"0"	"50"	"3"	"69988319"	"69988319"	"subst"	"2.44053E-5"	"02325"	"MITF_000043"	"g.69988319C>T"	""	""	""	"MITF(NM_000248.4):c.332C>T (p.A111V), MITF(NM_001354604.2):c.653C>T (p.(Ala218Val)), MITF(NM_198159.2):c.653C>T (p.A218V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001034166"	"0"	"30"	"3"	"70008574"	"70008574"	"subst"	"1.22236E-5"	"01804"	"MITF_000143"	"g.70008574A>G"	""	""	""	"MITF(NM_001354604.2):c.1179+3A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001034167"	"0"	"30"	"3"	"70008576"	"70008576"	"subst"	"0"	"01804"	"MITF_000144"	"g.70008576G>A"	""	""	""	"MITF(NM_001354604.2):c.1179+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001044881"	"1"	"90"	"3"	"69998301"	"69998301"	"dup"	"0"	"00006"	"MITF_000145"	"g.69998301dup"	"1/1291 cases hearing loss"	"{PMID:Wu 2019:31581539}"	""	"862dupA"	"combination of alleles not reported"	"Germline"	""	""	"0"	""	""	"g.69949150dup"	""	"pathogenic (dominant)"	""
"0001044882"	"1"	"90"	"3"	"70008488"	"70008488"	"subst"	"0"	"00006"	"MITF_000018"	"g.70008488C>T"	"1/1291 cases hearing loss"	"{PMID:Wu 2019:31581539}"	""	""	"combination of alleles not reported"	"Germline"	""	""	"0"	""	""	"g.69959337C>T"	""	"pathogenic (dominant)"	""
"0001044883"	"1"	"90"	"3"	"70005605"	"70005605"	"subst"	"0"	"00006"	"MITF_000056"	"g.70005605G>A"	"1/1291 cases hearing loss"	"{PMID:Wu 2019:31581539}"	""	""	"combination of alleles not reported"	"Germline"	""	""	"0"	""	""	"g.69956454G>A"	""	"pathogenic (dominant)"	""
"0001045936"	"0"	"50"	"3"	"70014108"	"70014108"	"subst"	"0"	"01804"	"MITF_000146"	"g.70014108C>G"	""	""	""	"MITF(NM_000248.3):c.969C>G (p.(Asn323Lys))"	"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 MITF
## Count = 308
"{{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}}"
"0000089821"	"00013652"	"90"	"1190"	"0"	"1190"	"0"	"c.1190del"	"r.(?)"	"p.(Gly397Aspfs*16)"	"10"
"0000128967"	"00013652"	"70"	"649"	"0"	"649"	"0"	"c.649del"	"r.(?)"	"p.(Arg217Glufs*10)"	"7"
"0000163086"	"00013652"	"90"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000163086"	"00024228"	"90"	"649"	"0"	"651"	"0"	"c.649_651del"	"r.(?)"	"p.(Arg217del)"	""
"0000163087"	"00013652"	"90"	"921"	"0"	"921"	"0"	"c.921G>C"	"r.(?)"	"p.(Lys307Asn)"	"7"
"0000163087"	"00024228"	"90"	"618"	"0"	"618"	"0"	"c.618G>C"	"r.(?)"	"p.(Lys206Asn)"	""
"0000163088"	"00013652"	"90"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000163088"	"00024228"	"90"	"649"	"0"	"651"	"0"	"c.649_651del"	"r.(?)"	"p.(Arg217del)"	""
"0000163089"	"00013652"	"90"	"921"	"0"	"921"	"0"	"c.921G>C"	"r.(?)"	"p.(Lys307Asn)"	"7"
"0000163089"	"00024228"	"90"	"618"	"0"	"618"	"0"	"c.618G>C"	"r.(?)"	"p.(Lys206Asn)"	""
"0000163090"	"00013652"	"90"	"952"	"0"	"952"	"0"	"c.952A>G"	"r.(?)"	"p.(Arg318Gly)"	"8"
"0000163090"	"00024228"	"90"	"649"	"0"	"649"	"0"	"c.649A>G"	"r.(?)"	"p.(Arg217Gly)"	""
"0000163091"	"00013652"	"90"	"938"	"-1"	"938"	"-1"	"c.938-1G>A"	"r.spl"	"p.?"	"7i"
"0000163091"	"00024228"	"90"	"635"	"-1"	"635"	"-1"	"c.635-1G>A"	"r.spl"	"p.?"	""
"0000163092"	"00013652"	"90"	"938"	"-1"	"938"	"-1"	"c.938-1G>A"	"r.spl"	"p.?"	"7i"
"0000163092"	"00024228"	"90"	"635"	"-1"	"635"	"-1"	"c.635-1G>A"	"r.spl"	"p.?"	""
"0000163093"	"00013652"	"90"	"952"	"0"	"952"	"0"	"c.952A>G"	"r.(?)"	"p.(Arg318Gly)"	"8"
"0000163093"	"00024228"	"90"	"649"	"0"	"649"	"0"	"c.649A>G"	"r.(?)"	"p.(Arg217Gly)"	""
"0000249530"	"00013652"	"30"	"666"	"8"	"666"	"8"	"c.666+8A>G"	"r.(=)"	"p.(=)"	""
"0000249530"	"00024228"	"30"	"345"	"8"	"345"	"8"	"c.345+8A>G"	"r.(=)"	"p.(=)"	""
"0000254876"	"00013652"	"30"	"1476"	"0"	"1476"	"0"	"c.1476A>C"	"r.(?)"	"p.(Pro492=)"	""
"0000254876"	"00024228"	"30"	"1173"	"0"	"1173"	"0"	"c.1173A>C"	"r.(?)"	"p.(Pro391=)"	""
"0000255222"	"00013652"	"30"	"1162"	"-4"	"1162"	"-4"	"c.1162-4A>G"	"r.spl?"	"p.?"	""
"0000255222"	"00024228"	"30"	"859"	"-4"	"859"	"-4"	"c.859-4A>G"	"r.spl?"	"p.?"	""
"0000279778"	"00013652"	"30"	"1013"	"14"	"1013"	"14"	"c.1013+14C>T"	"r.(=)"	"p.(=)"	""
"0000279778"	"00024228"	"30"	"710"	"14"	"710"	"14"	"c.710+14C>T"	"r.(=)"	"p.(=)"	""
"0000279779"	"00013652"	"10"	"1014"	"-4"	"1014"	"-4"	"c.1014-4G>A"	"r.spl?"	"p.?"	""
"0000279779"	"00024228"	"10"	"711"	"-4"	"711"	"-4"	"c.711-4G>A"	"r.spl?"	"p.?"	""
"0000279780"	"00013652"	"10"	"1161"	"4"	"1161"	"4"	"c.1161+4C>T"	"r.spl?"	"p.?"	""
"0000279780"	"00024228"	"10"	"858"	"4"	"858"	"4"	"c.858+4C>T"	"r.spl?"	"p.?"	""
"0000279781"	"00013652"	"10"	"1262"	"0"	"1262"	"0"	"c.1262T>C"	"r.(?)"	"p.(Val421Ala)"	""
"0000279781"	"00024228"	"10"	"959"	"0"	"959"	"0"	"c.959T>C"	"r.(?)"	"p.(Val320Ala)"	""
"0000279782"	"00013652"	"10"	"1551"	"0"	"1551"	"0"	"c.1551G>A"	"r.(?)"	"p.(Glu517=)"	""
"0000279782"	"00024228"	"10"	"1248"	"0"	"1248"	"0"	"c.1248G>A"	"r.(?)"	"p.(Glu416=)"	""
"0000279783"	"00013652"	"10"	"366"	"0"	"366"	"0"	"c.366C>T"	"r.(?)"	"p.(His122=)"	""
"0000279783"	"00024228"	"10"	"45"	"0"	"45"	"0"	"c.45C>T"	"r.(?)"	"p.(His15=)"	""
"0000279786"	"00013652"	"10"	"104"	"24216"	"104"	"24216"	"c.104+24216T>C"	"r.(=)"	"p.(=)"	""
"0000279786"	"00024228"	"10"	"-172806"	"0"	"-172806"	"0"	"c.-172806T>C"	"r.(?)"	"p.(=)"	""
"0000279787"	"00013652"	"10"	"880"	"9"	"880"	"9"	"c.880+9C>G"	"r.(=)"	"p.(=)"	""
"0000279787"	"00024228"	"10"	"559"	"9"	"559"	"9"	"c.559+9C>G"	"r.(=)"	"p.(=)"	""
"0000279788"	"00013652"	"10"	"881"	"-25"	"881"	"-25"	"c.881-25T>A"	"r.(=)"	"p.(=)"	""
"0000279788"	"00024228"	"10"	"560"	"-7"	"560"	"-7"	"c.560-7T>A"	"r.(=)"	"p.(=)"	""
"0000282508"	"00013652"	"30"	"666"	"15"	"666"	"15"	"c.666+15G>C"	"r.(=)"	"p.(=)"	""
"0000282508"	"00024228"	"30"	"345"	"15"	"345"	"15"	"c.345+15G>C"	"r.(=)"	"p.(=)"	""
"0000283678"	"00013652"	"30"	"1132"	"0"	"1132"	"0"	"c.1132G>A"	"r.(?)"	"p.(Ala378Thr)"	""
"0000283678"	"00024228"	"30"	"829"	"0"	"829"	"0"	"c.829G>A"	"r.(?)"	"p.(Ala277Thr)"	""
"0000283679"	"00013652"	"10"	"1551"	"0"	"1551"	"0"	"c.1551G>A"	"r.(?)"	"p.(Glu517=)"	""
"0000283679"	"00024228"	"10"	"1248"	"0"	"1248"	"0"	"c.1248G>A"	"r.(?)"	"p.(Glu416=)"	""
"0000283680"	"00013652"	"10"	"330"	"0"	"330"	"0"	"c.330G>A"	"r.(?)"	"p.(Thr110=)"	""
"0000283680"	"00024228"	"10"	"-57364"	"0"	"-57364"	"0"	"c.-57364G>A"	"r.(?)"	"p.(=)"	""
"0000283681"	"00013652"	"30"	"880"	"9"	"880"	"9"	"c.880+9C>G"	"r.(=)"	"p.(=)"	""
"0000283681"	"00024228"	"30"	"559"	"9"	"559"	"9"	"c.559+9C>G"	"r.(=)"	"p.(=)"	""
"0000283682"	"00013652"	"30"	"882"	"0"	"882"	"0"	"c.882G>A"	"r.(?)"	"p.(Glu294=)"	""
"0000283682"	"00024228"	"30"	"579"	"0"	"579"	"0"	"c.579G>A"	"r.(?)"	"p.(Glu193=)"	""
"0000291824"	"00013652"	"50"	"107"	"0"	"107"	"0"	"c.107G>T"	"r.(?)"	"p.(Ser36Ile)"	""
"0000291824"	"00024228"	"50"	"-57587"	"0"	"-57587"	"0"	"c.-57587G>T"	"r.(?)"	"p.(=)"	""
"0000291825"	"00013652"	"50"	"118"	"0"	"118"	"0"	"c.118C>T"	"r.(?)"	"p.(His40Tyr)"	""
"0000291825"	"00024228"	"50"	"-57576"	"0"	"-57576"	"0"	"c.-57576C>T"	"r.(?)"	"p.(=)"	""
"0000291826"	"00013652"	"50"	"319"	"0"	"319"	"0"	"c.319C>T"	"r.(?)"	"p.(Pro107Ser)"	""
"0000291826"	"00024228"	"50"	"-57375"	"0"	"-57375"	"0"	"c.-57375C>T"	"r.(?)"	"p.(=)"	""
"0000291827"	"00013652"	"50"	"653"	"0"	"653"	"0"	"c.653C>T"	"r.(?)"	"p.(Ala218Val)"	""
"0000291827"	"00024228"	"50"	"332"	"0"	"332"	"0"	"c.332C>T"	"r.(?)"	"p.(Ala111Val)"	""
"0000329506"	"00013652"	"50"	"653"	"0"	"653"	"0"	"c.653C>T"	"r.(?)"	"p.(Ala218Val)"	""
"0000329506"	"00024228"	"50"	"332"	"0"	"332"	"0"	"c.332C>T"	"r.(?)"	"p.(Ala111Val)"	""
"0000338637"	"00013652"	"30"	"880"	"9"	"880"	"9"	"c.880+9C>G"	"r.(=)"	"p.(=)"	""
"0000338637"	"00024228"	"30"	"559"	"9"	"559"	"9"	"c.559+9C>G"	"r.(=)"	"p.(=)"	""
"0000338638"	"00013652"	"10"	"1611"	"0"	"1611"	"0"	"c.*48T>C"	"r.(=)"	"p.(=)"	""
"0000338638"	"00024228"	"10"	"1308"	"0"	"1308"	"0"	"c.*48T>C"	"r.(=)"	"p.(=)"	""
"0000340395"	"00013652"	"90"	"1212"	"0"	"1212"	"0"	"c.1212G>A"	"r.(?)"	"p.(Thr404=)"	""
"0000340395"	"00024228"	"90"	"909"	"0"	"909"	"0"	"c.909G>A"	"r.(?)"	"p.(Thr303=)"	""
"0000341713"	"00013652"	"90"	"649"	"0"	"649"	"0"	"c.649C>T"	"r.(?)"	"p.(Arg217Ter)"	""
"0000341713"	"00024228"	"90"	"328"	"0"	"328"	"0"	"c.328C>T"	"r.(?)"	"p.(Arg110Ter)"	""
"0000342250"	"00013652"	"90"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315Ter)"	""
"0000342250"	"00024228"	"90"	"640"	"0"	"640"	"0"	"c.640C>T"	"r.(?)"	"p.(Arg214Ter)"	""
"0000342302"	"00013652"	"90"	"971"	"0"	"971"	"0"	"c.971G>T"	"r.(?)"	"p.(Arg324Leu)"	""
"0000342302"	"00024228"	"90"	"668"	"0"	"668"	"0"	"c.668G>T"	"r.(?)"	"p.(Arg223Leu)"	""
"0000342557"	"00013652"	"90"	"1180"	"0"	"1180"	"0"	"c.1180C>T"	"r.(?)"	"p.(Arg394Ter)"	""
"0000342557"	"00024228"	"90"	"877"	"0"	"877"	"0"	"c.877C>T"	"r.(?)"	"p.(Arg293Ter)"	""
"0000345239"	"00013652"	"90"	"940"	"0"	"940"	"0"	"c.940G>T"	"r.(?)"	"p.(Glu314Ter)"	""
"0000345239"	"00024228"	"90"	"637"	"0"	"637"	"0"	"c.637G>T"	"r.(?)"	"p.(Glu213Ter)"	""
"0000345330"	"00013652"	"30"	"1164"	"0"	"1164"	"0"	"c.1164A>T"	"r.(?)"	"p.(Glu388Asp)"	""
"0000345330"	"00024228"	"30"	"861"	"0"	"861"	"0"	"c.861A>T"	"r.(?)"	"p.(Glu287Asp)"	""
"0000346437"	"00013652"	"30"	"1141"	"0"	"1141"	"0"	"c.1141C>T"	"r.(?)"	"p.(His381Tyr)"	""
"0000346437"	"00024228"	"30"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(His280Tyr)"	""
"0000520623"	"00013652"	"30"	"104"	"24208"	"104"	"24208"	"c.104+24208C>T"	"r.(=)"	"p.(=)"	""
"0000520623"	"00024228"	"30"	"-172814"	"0"	"-172814"	"0"	"c.-172814C>T"	"r.(?)"	"p.(=)"	""
"0000520624"	"00013652"	"30"	"104"	"24216"	"104"	"24216"	"c.104+24216T>C"	"r.(=)"	"p.(=)"	""
"0000520624"	"00024228"	"30"	"-172806"	"0"	"-172806"	"0"	"c.-172806T>C"	"r.(?)"	"p.(=)"	""
"0000520625"	"00013652"	"50"	"329"	"0"	"329"	"0"	"c.329C>T"	"r.(?)"	"p.(Thr110Met)"	""
"0000520625"	"00024228"	"50"	"-57365"	"0"	"-57365"	"0"	"c.-57365C>T"	"r.(?)"	"p.(=)"	""
"0000520626"	"00013652"	"30"	"366"	"0"	"366"	"0"	"c.366C>T"	"r.(?)"	"p.(His122=)"	""
"0000520626"	"00024228"	"30"	"45"	"0"	"45"	"0"	"c.45C>T"	"r.(?)"	"p.(His15=)"	""
"0000520627"	"00013652"	"90"	"383"	"0"	"383"	"0"	"c.383dup"	"r.(?)"	"p.(Tyr129ValfsTer22)"	""
"0000520627"	"00024228"	"90"	"62"	"0"	"62"	"0"	"c.62dup"	"r.(?)"	"p.(Tyr22ValfsTer22)"	""
"0000520628"	"00013652"	"10"	"582"	"22"	"582"	"26"	"c.582+22_582+26dup"	"r.(=)"	"p.(=)"	""
"0000520628"	"00024228"	"10"	"261"	"22"	"261"	"26"	"c.261+22_261+26dup"	"r.(=)"	"p.(=)"	""
"0000520629"	"00013652"	"30"	"639"	"0"	"639"	"0"	"c.639C>T"	"r.(?)"	"p.(Asn213=)"	""
"0000520629"	"00024228"	"30"	"318"	"0"	"318"	"0"	"c.318C>T"	"r.(?)"	"p.(Asn106=)"	""
"0000520630"	"00013652"	"90"	"763"	"-2"	"763"	"-2"	"c.763-2A>G"	"r.spl?"	"p.?"	""
"0000520630"	"00024228"	"90"	"442"	"-2"	"442"	"-2"	"c.442-2A>G"	"r.spl?"	"p.?"	""
"0000520631"	"00013652"	"30"	"836"	"0"	"836"	"0"	"c.836A>G"	"r.(?)"	"p.(Asn279Ser)"	""
"0000520631"	"00024228"	"30"	"515"	"0"	"515"	"0"	"c.515A>G"	"r.(?)"	"p.(Asn172Ser)"	""
"0000520633"	"00013652"	"30"	"1021"	"0"	"1021"	"0"	"c.1021C>T"	"r.(?)"	"p.(Arg341Cys)"	""
"0000520633"	"00024228"	"30"	"718"	"0"	"718"	"0"	"c.718C>T"	"r.(?)"	"p.(Arg240Cys)"	""
"0000520634"	"00013652"	"70"	"1078"	"0"	"1078"	"0"	"c.1078C>T"	"r.(?)"	"p.(Arg360Ter)"	""
"0000520634"	"00024228"	"70"	"775"	"0"	"775"	"0"	"c.775C>T"	"r.(?)"	"p.(Arg259Ter)"	""
"0000520635"	"00013652"	"50"	"1240"	"0"	"1240"	"0"	"c.1240C>T"	"r.(?)"	"p.(Arg414Trp)"	""
"0000520635"	"00024228"	"50"	"937"	"0"	"937"	"0"	"c.937C>T"	"r.(?)"	"p.(Arg313Trp)"	""
"0000520641"	"00013652"	"30"	"1318"	"0"	"1318"	"0"	"c.1318A>G"	"r.(?)"	"p.(Thr440Ala)"	""
"0000520641"	"00024228"	"30"	"1015"	"0"	"1015"	"0"	"c.1015A>G"	"r.(?)"	"p.(Thr339Ala)"	""
"0000520642"	"00013652"	"30"	"1548"	"0"	"1548"	"0"	"c.1548G>A"	"r.(?)"	"p.(Thr516=)"	""
"0000520642"	"00024228"	"30"	"1245"	"0"	"1245"	"0"	"c.1245G>A"	"r.(?)"	"p.(Thr415=)"	""
"0000608868"	"00013652"	"30"	"38"	"0"	"38"	"0"	"c.38T>C"	"r.(?)"	"p.(Val13Ala)"	""
"0000608868"	"00024228"	"30"	"-197088"	"0"	"-197088"	"0"	"c.-197088T>C"	"r.(?)"	"p.(=)"	""
"0000608869"	"00013652"	"30"	"475"	"0"	"475"	"0"	"c.475C>T"	"r.(?)"	"p.(Pro159Ser)"	""
"0000608869"	"00024228"	"30"	"154"	"0"	"154"	"0"	"c.154C>T"	"r.(?)"	"p.(Pro52Ser)"	""
"0000608870"	"00013652"	"50"	"1235"	"0"	"1235"	"0"	"c.1235T>C"	"r.(?)"	"p.(Val412Ala)"	""
"0000608870"	"00024228"	"50"	"932"	"0"	"932"	"0"	"c.932T>C"	"r.(?)"	"p.(Val311Ala)"	""
"0000630840"	"00013652"	"70"	"1180"	"0"	"1180"	"0"	"c.1180C>T"	"r.(?)"	"p.(Arg394*)"	"10"
"0000630840"	"00024228"	"70"	"877"	"0"	"877"	"0"	"c.877C>T"	"r.(?)"	"p.(Arg293*)"	"9"
"0000639256"	"00013652"	"99"	"355"	"-1080"	"355"	"-1080"	"c.355-1080A>G"	"r.(=)"	"p.(=)"	"2i"
"0000639262"	"00013652"	"33"	"736"	"0"	"736"	"0"	"c.736G>A"	"r.(?)"	"p.(Asp246Asn)"	"5"
"0000639263"	"00013652"	"99"	"763"	"-2"	"763"	"-2"	"c.763-2A>C"	"r.spl?"	"p.?"	"5i"
"0000639265"	"00013652"	"99"	"881"	"-3"	"881"	"-3"	"c.881-3del"	"r.spl?"	"p.?"	"6i"
"0000639267"	"00013652"	"77"	"928"	"0"	"928"	"0"	"c.928C>T"	"r.(?)"	"p.(His310Tyr)"	"7"
"0000639268"	"00013652"	"99"	"933"	"0"	"933"	"0"	"c.933C>G"	"r.(?)"	"p.(Asn311Lys)"	"7"
"0000639269"	"00013652"	"99"	"937"	"1"	"937"	"1"	"c.937+1G>A"	"r.spl?"	"p.?"	"7i"
"0000639271"	"00013652"	"99"	"939"	"0"	"939"	"0"	"c.939T>G"	"r.(?)"	"p.(Ile313Met)"	"8"
"0000639276"	"00013652"	"99"	"952"	"0"	"952"	"0"	"c.952A>G"	"r.(?)"	"p.(Arg318Gly)"	"8"
"0000639277"	"00013652"	"99"	"953"	"0"	"953"	"0"	"c.953G>T"	"r.(?)"	"p.(Arg318Ile)"	"8"
"0000639279"	"00013652"	"99"	"1002"	"0"	"1003"	"0"	"c.1002_1003del"	"r.(?)"	"p.(Lys334Asnfs*3)"	"8"
"0000639280"	"00013652"	"99"	"1013"	"1"	"1013"	"1"	"c.1013+1G>A"	"r.spl?"	"p.?"	"8i"
"0000639281"	"00013652"	"99"	"1013"	"5"	"1013"	"5"	"c.1013+5G>T"	"r.spl?"	"p.?"	"8i"
"0000639286"	"00013652"	"99"	"1078"	"0"	"1078"	"0"	"c.1078C>T"	"r.(?)"	"p.(Arg360*)"	"9"
"0000639291"	"00013652"	"99"	"1195"	"0"	"1195"	"0"	"c.1195T>C"	"r.(?)"	"p.(Ser399Pro)"	"10"
"0000639293"	"00013652"	"55"	"1255"	"0"	"1255"	"0"	"c.1255G>A"	"r.(?)"	"p.(Glu419Lys)"	"10"
"0000639294"	"00013652"	"77"	"1262"	"0"	"1262"	"0"	"c.1262T>C"	"r.(?)"	"p.(Val421Ala)"	"10"
"0000640279"	"00013652"	"99"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315*)"	"8"
"0000655015"	"00013652"	"30"	"1132"	"0"	"1132"	"0"	"c.1132G>A"	"r.(?)"	"p.(Ala378Thr)"	""
"0000655015"	"00024228"	"30"	"829"	"0"	"829"	"0"	"c.829G>A"	"r.(?)"	"p.(Ala277Thr)"	""
"0000677081"	"00013652"	"30"	"105"	"-12813"	"105"	"-12813"	"c.105-12813C>T"	"r.(=)"	"p.(=)"	""
"0000677081"	"00024228"	"30"	"-70402"	"0"	"-70402"	"0"	"c.-70402C>T"	"r.(?)"	"p.(=)"	""
"0000677082"	"00013652"	"90"	"1013"	"1"	"1013"	"1"	"c.1013+1G>A"	"r.spl?"	"p.?"	""
"0000677082"	"00024228"	"90"	"710"	"1"	"710"	"1"	"c.710+1G>A"	"r.spl?"	"p.?"	""
"0000689146"	"00013652"	"30"	"104"	"24226"	"104"	"24226"	"c.104+24226G>A"	"r.(=)"	"p.(=)"	""
"0000689146"	"00024228"	"30"	"-172796"	"0"	"-172796"	"0"	"c.-172796G>A"	"r.(?)"	"p.(=)"	""
"0000689147"	"00013652"	"30"	"519"	"0"	"519"	"0"	"c.519G>A"	"r.(?)"	"p.(Pro173=)"	""
"0000689147"	"00024228"	"30"	"198"	"0"	"198"	"0"	"c.198G>A"	"r.(?)"	"p.(Pro66=)"	""
"0000698917"	"00013652"	"99"	"355"	"-1066"	"355"	"-1066"	"c.355-1066G>A"	"r.?"	"p.?"	"2i"
"0000698917"	"00024228"	"99"	"33"	"1"	"33"	"1"	"c.33+1G>A"	"r.spl"	"p.?"	"1Mi"
"0000698918"	"00013652"	"99"	"355"	"-1066"	"355"	"-1066"	"c.355-1066G>A"	"r.?"	"p.?"	"2i"
"0000698918"	"00024228"	"99"	"33"	"1"	"33"	"1"	"c.33+1G>A"	"r.spl"	"p.?"	"1Mi"
"0000698919"	"00013652"	"99"	"732"	"0"	"732"	"0"	"c.732del"	"r.(?)"	"p.(Met245Trpfs*17)"	"5i"
"0000698920"	"00013652"	"99"	"763"	"-2"	"763"	"-2"	"c.763-2A>C"	"r.spl?"	"p.?"	"5i"
"0000698921"	"00013652"	"99"	"763"	"-1"	"763"	"-1"	"c.763-1G>C"	"r.763_880del"	"p.Leu255Serfs*19"	"5i"
"0000698922"	"00013652"	"33"	"804"	"0"	"804"	"0"	"c.804A>T"	"r.(?)"	"p.(Gln268His)"	"6"
"0000698923"	"00013652"	"99"	"882"	"0"	"883"	"0"	"c.882_883del"	"r.(?)"	"p.(Glu294Aspfs*2)"	"6"
"0000698924"	"00013652"	"33"	"911"	"0"	"911"	"0"	"c.911G>A"	"r.(?)"	"p.(Arg304Lys)"	"7"
"0000698925"	"00013652"	"77"	"933"	"0"	"933"	"0"	"c.933C>G"	"r.(?)"	"p.(Asn311Lys)"	"7"
"0000698926"	"00013652"	"99"	"937"	"1"	"937"	"1"	"c.937+1G>A"	"r.spl"	"p.?"	"7i"
"0000698927"	"00013652"	"99"	"942"	"0"	"942"	"0"	"c.942del"	"r.(?)"	"p.(Glu314Aspfs*8)"	"8"
"0000698928"	"00013652"	"99"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315*)"	"8"
"0000698929"	"00013652"	"99"	"943"	"0"	"943"	"0"	"c.943C>T"	"r.(?)"	"p.(Arg315*)"	"8"
"0000698930"	"00013652"	"77"	"950"	"0"	"950"	"0"	"c.950G>A"	"r.(?)"	"p.(Arg317Lys)"	"8"
"0000698931"	"00013652"	"79"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000698932"	"00013652"	"99"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000698933"	"00013652"	"99"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000698934"	"00013652"	"77"	"974"	"0"	"974"	"0"	"c.974T>G"	"r.(?)"	"p.(Ile325Ser)"	"8"
"0000698935"	"00013652"	"99"	"1013"	"1"	"1013"	"1"	"c.1013+1G>A"	"r.spl"	"p.?"	"8i"
"0000698936"	"00013652"	"77"	"1013"	"5"	"1013"	"5"	"c.1013+5G>T"	"r.spl?"	"p.?"	"8i"
"0000698937"	"00013652"	"77"	"1051"	"0"	"1051"	"0"	"c.1051T>C"	"r.(?)"	"p.(Ser351Pro)"	"9"
"0000698938"	"00013652"	"77"	"1061"	"0"	"1061"	"0"	"c.1061A>G"	"r.(?)"	"p.(Tyr354Cys)"	"9"
"0000698939"	"00013652"	"99"	"1078"	"0"	"1078"	"0"	"c.1078C>T"	"r.(?)"	"p.(Arg360*)"	"9"
"0000698940"	"00013652"	"99"	"1078"	"0"	"1078"	"0"	"c.1078C>T"	"r.(?)"	"p.(Arg360*)"	"9"
"0000698941"	"00013652"	"99"	"1109"	"0"	"1109"	"0"	"c.1109del"	"r.(?)"	"p.(Asn370Thrfs*43)"	"9"
"0000698942"	"00013652"	"99"	"1127"	"0"	"1127"	"0"	"c.1127del"	"r.(?)"	"p.(Glu376Glyfs*37)"	"9"
"0000698943"	"00013652"	"77"	"1135"	"0"	"1135"	"0"	"c.1135A>G"	"r.(?)"	"p.(Asn379Asp)"	"9"
"0000698944"	"00013652"	"73"	"1195"	"0"	"1195"	"0"	"c.1195T>C"	"r.(?)"	"p.(Ser399Pro)"	"10"
"0000698945"	"00013652"	"99"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000698946"	"00013652"	"99"	"881"	"-3"	"881"	"-3"	"c.881-3del"	"r.spl?"	"p.?"	"6i"
"0000698947"	"00013652"	"99"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000698948"	"00013652"	"99"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000698949"	"00013652"	"99"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000698950"	"00013652"	"97"	"953"	"0"	"953"	"0"	"c.953G>T"	"r.(?)"	"p.(Arg318Ile)"	"8"
"0000698951"	"00013652"	"99"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000698952"	"00013652"	"77"	"355"	"-1062"	"355"	"-1062"	"c.355-1062G>C"	"r.?"	"p.?"	"2i"
"0000698952"	"00024228"	"77"	"33"	"5"	"33"	"5"	"c.33+5G>C"	"r.spl?"	"p.?"	"1Mi"
"0000698953"	"00013652"	"99"	"1212"	"0"	"1212"	"0"	"c.1212G>A"	"r.1162_1213del"	"p.?"	"10"
"0000698953"	"00024228"	"99"	"909"	"0"	"909"	"0"	"c.909G>A"	"r.859_910del"	"p.?"	""
"0000698954"	"00013652"	"77"	"919"	"0"	"919"	"0"	"c.919A>C"	"r.(?)"	"p.(Lys307Gln)"	"7"
"0000698955"	"00013652"	"77"	"938"	"0"	"938"	"0"	"c.938T>G"	"r.(?)"	"p.(Ile313Ser)"	"8"
"0000698956"	"00013652"	"77"	"942"	"0"	"942"	"0"	"c.942A>C"	"r.(?)"	"p.(Glu314Asp)"	"8"
"0000698957"	"00013652"	"77"	"953"	"0"	"953"	"0"	"c.953G>T"	"r.(?)"	"p.(Arg318Ile)"	"8"
"0000698958"	"00013652"	"99"	"0"	"0"	"0"	"0"	"c.0"	"r.0?"	"p.0?"	"_1_10_"
"0000698959"	"00013652"	"99"	"-8388608"	"0"	"1291"	"0"	"c.?_(1291_?)del"	"r.?"	"p.?"	"_1_10_"
"0000698959"	"00024228"	"99"	"-8388608"	"0"	"988"	"0"	"c.?_(988_?)del"	"r.?"	"p.?"	""
"0000698960"	"00013652"	"99"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356*)"	"9"
"0000698961"	"00013652"	"99"	"1045"	"0"	"1050"	"0"	"c.1045_1050delinsTAG"	"r.(?)"	"p.(Lys349*)"	"9"
"0000698962"	"00013652"	"75"	"355"	"-1072"	"355"	"-1072"	"c.355-1072T>A"	"r.?"	"p.?"	"2i"
"0000698962"	"00024228"	"75"	"28"	"0"	"28"	"0"	"c.28T>A"	"r.(?)"	"p.(Tyr10Asn)"	"1M"
"0000698963"	"00013652"	"99"	"649"	"0"	"649"	"0"	"c.649C>T"	"r.(?)"	"p.(Arg217*)"	"4"
"0000698964"	"00013652"	"77"	"953"	"0"	"953"	"0"	"c.953G>T"	"r.(?)"	"p.(Arg318Ile)"	"8"
"0000698965"	"00013652"	"75"	"-8388608"	"0"	"105"	"-12864"	"c.?_(105-12864_?)dup"	"r.?"	"p.?"	"_1_1i"
"0000698965"	"00024228"	"75"	"-8388608"	"0"	"-70453"	"0"	"c.?_(-70453_?)dup"	"r.?"	"p.?"	""
"0000698966"	"00013652"	"99"	"-8388608"	"0"	"1291"	"0"	"c.?_(1291_?)del"	"r.0?"	"p.0?"	"_1_10_"
"0000698966"	"00024228"	"99"	"-8388608"	"0"	"988"	"0"	"c.?_(988_?)del"	"r.0?"	"p.0?"	""
"0000698967"	"00013652"	"77"	"1151"	"0"	"1151"	"0"	"c.1151T>C"	"r.(?)"	"p.(Leu384Pro)"	"9"
"0000698968"	"00013652"	"35"	"355"	"-1080"	"355"	"-1080"	"c.355-1080A>G"	"r.?"	"p.?"	"2i"
"0000698968"	"00024228"	"35"	"20"	"0"	"20"	"0"	"c.20A>G"	"r.(?)"	"p.(Tyr7Cys)"	"1M"
"0000698969"	"00013652"	"33"	"653"	"0"	"653"	"0"	"c.653C>T"	"r.(?)"	"p.(Ala218Val)"	"4"
"0000698970"	"00013652"	"99"	"952"	"0"	"954"	"0"	"c.952_954del"	"r.(?)"	"p.(Arg318del)"	"8"
"0000698971"	"00013652"	"77"	"952"	"0"	"952"	"0"	"c.952A>G"	"r.(?)"	"p.(Arg318Gly)"	"8"
"0000698972"	"00013652"	"99"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356*)"	"9"
"0000698977"	"00013652"	"30"	"1236"	"0"	"1236"	"0"	"c.1236del"	"r.(?)"	"p.(Asn413Ilefs*24)"	""
"0000698977"	"00024228"	"30"	"933"	"0"	"933"	"0"	"c.933del"	"r.(?)"	"p.(Asn312Ilefs*24)"	""
"0000698978"	"00013652"	"30"	"355"	"-1061"	"355"	"-1055"	"c.355-1061_355-1055del"	"r.(?)"	"p.(=)"	""
"0000698978"	"00024228"	"30"	"33"	"6"	"33"	"12"	"c.33+6_33+12del"	"r.(?)"	"p.(=)"	""
"0000719603"	"00013652"	"30"	"345"	"0"	"345"	"0"	"c.345A>G"	"r.(?)"	"p.(Glu115=)"	""
"0000719603"	"00024228"	"30"	"-57349"	"0"	"-57349"	"0"	"c.-57349A>G"	"r.(?)"	"p.(=)"	""
"0000719604"	"00013652"	"50"	"452"	"0"	"452"	"0"	"c.452A>C"	"r.(?)"	"p.(His151Pro)"	""
"0000719604"	"00024228"	"50"	"131"	"0"	"131"	"0"	"c.131A>C"	"r.(?)"	"p.(His44Pro)"	""
"0000719605"	"00013652"	"30"	"1262"	"0"	"1262"	"0"	"c.1262T>C"	"r.(?)"	"p.(Val421Ala)"	""
"0000719605"	"00024228"	"30"	"959"	"0"	"959"	"0"	"c.959T>C"	"r.(?)"	"p.(Val320Ala)"	""
"0000732629"	"00013652"	"50"	"1026"	"0"	"1026"	"0"	"c.1026dup"	"r.(?)"	"p.(Asn343Glufs*27)"	""
"0000732629"	"00024228"	"50"	"723"	"0"	"723"	"0"	"c.723dup"	"r.(?)"	"p.(Asn242Glufs*27)"	""
"0000795501"	"00013652"	"90"	"938"	"-1"	"938"	"-1"	"c.938-1G>A"	"r.spl"	"p.?"	""
"0000795501"	"00024228"	"90"	"635"	"-1"	"635"	"-1"	"c.635-1G>A"	"r.spl"	"p.?"	""
"0000796077"	"00013652"	"70"	"1052"	"0"	"1052"	"0"	"c.1052C>A"	"r.(?)"	"p.(Ser351Tyr)"	""
"0000796077"	"00024228"	"70"	"749"	"0"	"749"	"0"	"c.749C>A"	"r.(?)"	"p.(Ser250Tyr)"	""
"0000796078"	"00013652"	"70"	"1052"	"0"	"1052"	"0"	"c.1052C>A"	"r.(?)"	"p.(Ser351Tyr)"	""
"0000796078"	"00024228"	"70"	"749"	"0"	"749"	"0"	"c.749C>A"	"r.(?)"	"p.(Ser250Tyr)"	""
"0000796588"	"00013652"	"70"	"644"	"0"	"644"	"0"	"c.644dup"	"r.(?)"	"p.(His215Glnfs*11)"	""
"0000796588"	"00024228"	"70"	"323"	"0"	"323"	"0"	"c.323dup"	"r.(?)"	"p.(His108Glnfs*11)"	""
"0000801369"	"00013652"	"50"	"104"	"24168"	"104"	"24168"	"c.104+24168G>C"	"r.(=)"	"p.(=)"	""
"0000801369"	"00024228"	"50"	"-172854"	"0"	"-172854"	"0"	"c.-172854G>C"	"r.(?)"	"p.(=)"	""
"0000801370"	"00013652"	"30"	"666"	"22"	"666"	"22"	"c.666+22T>C"	"r.(=)"	"p.(=)"	""
"0000801370"	"00024228"	"30"	"345"	"22"	"345"	"22"	"c.345+22T>C"	"r.(=)"	"p.(=)"	""
"0000801371"	"00013652"	"30"	"771"	"0"	"771"	"0"	"c.771C>A"	"r.(?)"	"p.(Val257=)"	""
"0000801371"	"00024228"	"30"	"450"	"0"	"450"	"0"	"c.450C>A"	"r.(?)"	"p.(Val150=)"	""
"0000801372"	"00013652"	"50"	"794"	"0"	"794"	"0"	"c.794A>G"	"r.(?)"	"p.(Tyr265Cys)"	""
"0000801372"	"00024228"	"50"	"473"	"0"	"473"	"0"	"c.473A>G"	"r.(?)"	"p.(Tyr158Cys)"	""
"0000801373"	"00013652"	"50"	"1141"	"0"	"1141"	"0"	"c.1141C>T"	"r.(?)"	"p.(His381Tyr)"	""
"0000801373"	"00024228"	"50"	"838"	"0"	"838"	"0"	"c.838C>T"	"r.(?)"	"p.(His280Tyr)"	""
"0000801375"	"00013652"	"30"	"1278"	"0"	"1278"	"0"	"c.1278C>T"	"r.(?)"	"p.(Ser426=)"	""
"0000801375"	"00024228"	"30"	"975"	"0"	"975"	"0"	"c.975C>T"	"r.(?)"	"p.(Ser325=)"	""
"0000814967"	"00013652"	"70"	"1013"	"1"	"1013"	"1"	"c.1013+1G>A"	"r.(?)"	"p.(?)"	"7"
"0000814967"	"00024228"	"70"	"710"	"1"	"710"	"1"	"c.710+1G>A"	"r.spl?"	"p.?"	""
"0000850411"	"00013652"	"50"	"400"	"0"	"400"	"0"	"c.400G>A"	"r.(?)"	"p.(Ala134Thr)"	""
"0000850411"	"00024228"	"50"	"79"	"0"	"79"	"0"	"c.79G>A"	"r.(?)"	"p.(Ala27Thr)"	""
"0000850412"	"00013652"	"90"	"1078"	"0"	"1078"	"0"	"c.1078C>T"	"r.(?)"	"p.(Arg360Ter)"	""
"0000850412"	"00024228"	"90"	"775"	"0"	"775"	"0"	"c.775C>T"	"r.(?)"	"p.(Arg259Ter)"	""
"0000859129"	"00013652"	"50"	"366"	"0"	"366"	"0"	"c.366C>T"	"r.(?)"	"p.(His122=)"	""
"0000859129"	"00024228"	"50"	"45"	"0"	"45"	"0"	"c.45C>T"	"r.(?)"	"p.(His15=)"	""
"0000859130"	"00013652"	"50"	"1033"	"0"	"1033"	"0"	"c.1033G>A"	"r.(?)"	"p.(Gly345Arg)"	""
"0000859130"	"00024228"	"50"	"730"	"0"	"730"	"0"	"c.730G>A"	"r.(?)"	"p.(Gly244Arg)"	""
"0000876609"	"00013652"	"70"	"929"	"0"	"929"	"0"	"c.929A>T"	"r.(?)"	"p.(His310Leu)"	""
"0000876609"	"00024228"	"70"	"626"	"0"	"626"	"0"	"c.626A>T"	"r.(?)"	"p.(His209Leu)"	""
"0000885978"	"00013652"	"90"	"787"	"0"	"787"	"0"	"c.787del"	"r.(?)"	"p.(Asp263Ilefs*26)"	""
"0000885978"	"00024228"	"90"	"466"	"0"	"466"	"0"	"c.466del"	"r.(?)"	"p.(Asp156Ilefs*26)"	""
"0000885979"	"00013652"	"30"	"804"	"0"	"804"	"0"	"c.804A>T"	"r.(?)"	"p.(Gln268His)"	""
"0000885979"	"00024228"	"30"	"483"	"0"	"483"	"0"	"c.483A>T"	"r.(?)"	"p.(Gln161His)"	""
"0000885980"	"00013652"	"90"	"1066"	"0"	"1066"	"0"	"c.1066C>T"	"r.(?)"	"p.(Arg356*)"	""
"0000885980"	"00024228"	"90"	"763"	"0"	"763"	"0"	"c.763C>T"	"r.(?)"	"p.(Arg255*)"	""
"0000915781"	"00024228"	"90"	"952"	"0"	"952"	"0"	"c.952G>A"	"r.(?)"	"p.(Glu318Lys)"	""
"0000923990"	"00013652"	"90"	"1013"	"1"	"1013"	"1"	"c.1013+1G>A"	"r.spl?"	"p.?"	""
"0000923990"	"00024228"	"90"	"710"	"1"	"710"	"1"	"c.710+1G>A"	"r.spl?"	"p.?"	""
"0000928824"	"00013652"	"50"	"1330"	"0"	"1330"	"0"	"c.1330C>T"	"r.(?)"	"p.(Leu444Phe)"	""
"0000928824"	"00024228"	"50"	"1027"	"0"	"1027"	"0"	"c.1027C>T"	"r.(?)"	"p.(Leu343Phe)"	""
"0000944335"	"00013652"	"70"	"666"	"1"	"666"	"1"	"c.666+1G>T"	"r.spl"	"p.?"	""
"0000948213"	"00013652"	"30"	"880"	"9"	"880"	"9"	"c.880+9C>G"	"r.(=)"	"p.(=)"	""
"0000948213"	"00024228"	"30"	"559"	"9"	"559"	"9"	"c.559+9C>G"	"r.(=)"	"p.(=)"	""
"0000948214"	"00013652"	"70"	"1014"	"-1"	"1014"	"-1"	"c.1014-1del"	"r.spl?"	"p.?"	""
"0000948214"	"00024228"	"70"	"711"	"-1"	"711"	"-1"	"c.711-1del"	"r.spl?"	"p.?"	""
"0000962888"	"00013652"	"30"	"582"	"491"	"582"	"491"	"c.582+491G>A"	"r.(=)"	"p.(=)"	""
"0000962888"	"00024228"	"30"	"261"	"491"	"261"	"491"	"c.261+491G>A"	"r.(=)"	"p.(=)"	""
"0000962889"	"00013652"	"70"	"916"	"0"	"916"	"0"	"c.916A>G"	"r.(?)"	"p.(Lys306Glu)"	""
"0000962889"	"00024228"	"70"	"613"	"0"	"613"	"0"	"c.613A>G"	"r.(?)"	"p.(Lys205Glu)"	""
"0000975983"	"00013652"	"30"	"104"	"56813"	"104"	"56816"	"c.104+56813_104+56816del"	"r.(=)"	"p.(=)"	""
"0000975983"	"00024228"	"30"	"-140209"	"0"	"-140206"	"0"	"c.-140209_-140206del"	"r.(?)"	"p.(=)"	""
"0000975984"	"00013652"	"70"	"773"	"0"	"773"	"0"	"c.773C>A"	"r.(?)"	"p.(Ser258*)"	""
"0000975984"	"00024228"	"70"	"452"	"0"	"452"	"0"	"c.452C>A"	"r.(?)"	"p.(Ser151*)"	""
"0000975985"	"00013652"	"30"	"1013"	"14"	"1013"	"14"	"c.1013+14C>T"	"r.(=)"	"p.(=)"	""
"0000975985"	"00024228"	"30"	"710"	"14"	"710"	"14"	"c.710+14C>T"	"r.(=)"	"p.(=)"	""
"0000975986"	"00013652"	"50"	"1459"	"0"	"1459"	"0"	"c.1459G>A"	"r.(?)"	"p.(Val487Ile)"	""
"0000975986"	"00024228"	"50"	"1156"	"0"	"1156"	"0"	"c.1156G>A"	"r.(?)"	"p.(Val386Ile)"	""
"0000993890"	"00013652"	"30"	"104"	"56812"	"104"	"56816"	"c.104+56812_104+56816del"	"r.(=)"	"p.(=)"	""
"0000993890"	"00024228"	"30"	"-140210"	"0"	"-140206"	"0"	"c.-140210_-140206del"	"r.(?)"	"p.(=)"	""
"0000993891"	"00013652"	"30"	"104"	"56815"	"104"	"56816"	"c.104+56815_104+56816del"	"r.(=)"	"p.(=)"	""
"0000993891"	"00024228"	"30"	"-140207"	"0"	"-140206"	"0"	"c.-140207_-140206del"	"r.(?)"	"p.(=)"	""
"0000993892"	"00013652"	"50"	"804"	"0"	"804"	"0"	"c.804A>T"	"r.(?)"	"p.(Gln268His)"	""
"0000993892"	"00024228"	"50"	"483"	"0"	"483"	"0"	"c.483A>T"	"r.(?)"	"p.(Gln161His)"	""
"0000993893"	"00013652"	"30"	"972"	"0"	"972"	"0"	"c.972C>T"	"r.(?)"	"p.(=)"	""
"0000993893"	"00024228"	"30"	"669"	"0"	"669"	"0"	"c.669C>T"	"r.(?)"	"p.(=)"	""
"0000993894"	"00013652"	"30"	"1262"	"0"	"1262"	"0"	"c.1262T>C"	"r.(?)"	"p.(Val421Ala)"	""
"0000993894"	"00024228"	"30"	"959"	"0"	"959"	"0"	"c.959T>C"	"r.(?)"	"p.(Val320Ala)"	""
"0001034164"	"00013652"	"10"	"104"	"54685"	"104"	"54685"	"c.104+54685G>A"	"r.(=)"	"p.(=)"	""
"0001034164"	"00024228"	"10"	"-142337"	"0"	"-142337"	"0"	"c.-142337G>A"	"r.(?)"	"p.(=)"	""
"0001034165"	"00013652"	"50"	"653"	"0"	"653"	"0"	"c.653C>T"	"r.(?)"	"p.(Ala218Val)"	""
"0001034165"	"00024228"	"50"	"332"	"0"	"332"	"0"	"c.332C>T"	"r.(?)"	"p.(Ala111Val)"	""
"0001034166"	"00013652"	"30"	"1161"	"3"	"1161"	"3"	"c.1161+3A>G"	"r.spl?"	"p.?"	""
"0001034166"	"00024228"	"30"	"858"	"3"	"858"	"3"	"c.858+3A>G"	"r.spl?"	"p.?"	""
"0001034167"	"00013652"	"30"	"1161"	"5"	"1161"	"5"	"c.1161+5G>A"	"r.spl?"	"p.?"	""
"0001034167"	"00024228"	"30"	"858"	"5"	"858"	"5"	"c.858+5G>A"	"r.spl?"	"p.?"	""
"0001044881"	"00013652"	"90"	"862"	"0"	"862"	"0"	"c.862dup"	"r,(?)"	"p.(Ile288AsnfsTer9)"	""
"0001044882"	"00013652"	"90"	"1078"	"0"	"1078"	"0"	"c.1078C>T"	"r,(?)"	"p.(Arg360Ter)"	""
"0001044883"	"00013652"	"90"	"938"	"-1"	"938"	"-1"	"c.938-1G>A"	"r.spl"	"p.?"	""
"0001045936"	"00013652"	"50"	"1272"	"0"	"1272"	"0"	"c.1272C>G"	"r.(?)"	"p.(Asn424Lys)"	""
"0001045936"	"00024228"	"50"	"969"	"0"	"969"	"0"	"c.969C>G"	"r.(?)"	"p.(Asn323Lys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 99
"{{screeningid}}"	"{{variantid}}"
"0000059021"	"0000089821"
"0000080088"	"0000128967"
"0000100721"	"0000163086"
"0000100721"	"0000163087"
"0000100722"	"0000163088"
"0000100723"	"0000163089"
"0000100724"	"0000163090"
"0000100724"	"0000163091"
"0000100725"	"0000163092"
"0000100726"	"0000163093"
"0000276711"	"0000630840"
"0000283514"	"0000639256"
"0000283520"	"0000639262"
"0000283521"	"0000639263"
"0000283523"	"0000639265"
"0000283525"	"0000639267"
"0000283526"	"0000639268"
"0000283527"	"0000639269"
"0000283529"	"0000639271"
"0000283534"	"0000639276"
"0000283535"	"0000639277"
"0000283537"	"0000639279"
"0000283538"	"0000639280"
"0000283539"	"0000639281"
"0000283544"	"0000639286"
"0000283549"	"0000639291"
"0000283551"	"0000639293"
"0000283552"	"0000639294"
"0000284537"	"0000640279"
"0000316748"	"0000698917"
"0000316749"	"0000698918"
"0000316750"	"0000698919"
"0000316751"	"0000698920"
"0000316752"	"0000698921"
"0000316753"	"0000698922"
"0000316754"	"0000698923"
"0000316755"	"0000698924"
"0000316756"	"0000698925"
"0000316757"	"0000698926"
"0000316758"	"0000698927"
"0000316759"	"0000698928"
"0000316760"	"0000698929"
"0000316761"	"0000698930"
"0000316762"	"0000698931"
"0000316763"	"0000698932"
"0000316764"	"0000698933"
"0000316765"	"0000698934"
"0000316766"	"0000698935"
"0000316767"	"0000698936"
"0000316768"	"0000698937"
"0000316769"	"0000698938"
"0000316770"	"0000698939"
"0000316771"	"0000698940"
"0000316772"	"0000698941"
"0000316773"	"0000698942"
"0000316774"	"0000698943"
"0000316775"	"0000698944"
"0000316776"	"0000698945"
"0000316777"	"0000698946"
"0000316778"	"0000698947"
"0000316779"	"0000698948"
"0000316780"	"0000698949"
"0000316781"	"0000698950"
"0000316782"	"0000698951"
"0000316783"	"0000698952"
"0000316784"	"0000698953"
"0000316785"	"0000698954"
"0000316786"	"0000698955"
"0000316787"	"0000698956"
"0000316787"	"0000698977"
"0000316788"	"0000698957"
"0000316789"	"0000698958"
"0000316790"	"0000698959"
"0000316791"	"0000698960"
"0000316792"	"0000698961"
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