### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GNPTAB)
# 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}}"
"GNPTAB"	"N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits"	"12"	"q23.3"	"unknown"	"NG_021243.1"	"UD_132084479069"	""	"http://www.LOVD.nl/GNPTAB"	""	"1"	"29670"	"79158"	"607840"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/GNPTAB_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2014-12-19 15:50:46"	"00006"	"2025-11-20 12:33:25"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00023993"	"GNPTAB"	"N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits"	"001"	"NM_024312.4"	""	"NP_077288.2"	""	""	""	"-192"	"5438"	"3771"	"102224645"	"102139275"	"00006"	"2014-12-19 15:51:51"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00138"	"autism"	"autism"	""	"209850"	""	""	""	"00084"	"2013-06-04 18:17:33"	"00006"	"2015-12-08 23:54:35"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01617"	"ABL"	"abetalipoproteinaemia (ABL)"	"AR"	"200100"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01929"	"ML2;ICD"	"mucolipidosis, type II, alpha/beta (ML-2, I cell disease (ICD))"	"AR"	"252500"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01930"	"ML3"	"mucolipidosis, type III, alpha/beta (ML-3, pseudo-Hurler polydystrophy)"	"AR"	"252600"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04161"	"STUT2"	"stuttering, familial, persistent, type 2 (STUT-2)"	""	"609261"	""	""	""	"00006"	"2014-12-19 16:17:19"	"00006"	"2021-12-10 21:51:32"
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"
"05446"	"ML"	"mucolipidosis (ML)"	""	""	""	""	""	"00006"	"2018-06-27 14:44:08"	""	""
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"GNPTAB"	"01929"
"GNPTAB"	"01930"
"GNPTAB"	"05446"


## Individuals ## Do not remove or alter this header ##
## Count = 54
"{{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}}"
"00000014"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000034"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000054"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00034575"	""	""	""	"11"	""	"01178"	""	""	"-"	"-"	""	""	"0"	""	""	""	""
"00034576"	""	""	""	"1"	""	"01178"	""	""	"-"	"-"	""	""	"0"	""	""	""	""
"00034577"	""	""	""	"3"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034578"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034579"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034580"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034581"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034582"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034584"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034585"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034586"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034587"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034588"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034589"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034590"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034591"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034592"	""	""	""	"43"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00034593"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037451"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037452"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037453"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037454"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037455"	""	""	""	"2"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037456"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037457"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037458"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037459"	""	""	""	"8"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037460"	""	""	""	"1"	""	"01178"	""	""	""	""	""	""	"0"	""	""	""	""
"00037748"	""	""	""	"2"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00165049"	""	""	""	"1"	""	"02508"	"{DOI:Kudo 2006:10.1086/500849}"	"Unaffected heterozygous carrier parents."	"M"	"?"	"United States"	""	"0"	""	""	""	"GM01494"
"00168036"	""	""	""	"1"	""	"02508"	""	""	"M"	"?"	"Germany"	"03y"	"0"	""	""	""	"BL"
"00290571"	""	""	""	"5"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00331464"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family"	"M"	"yes"	""	""	"0"	""	""	"Arab"	"16DG0165"
"00331465"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"17DG0800"
"00331862"	""	""	""	"1"	""	"04002"	"Di Lorenzo et al. 2021 submitted"	""	"M"	"no"	"Brazil"	">06y"	"0"	""	""	""	""
"00419628"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"M"	""	"Greece"	""	"0"	""	""	""	"8110"
"00456235"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"Pat13"
"00456239"	""	""	""	"1"	""	"00006"	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"M"	""	"Spain"	""	"0"	""	""	""	"Pat17"
"00456301"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"F"	""	"Mexico"	""	"0"	""	""	""	"MPL-Pat1"
"00456302"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	""	"MPL-Pat3"
"00456303"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"F"	""	"Turkey"	""	"0"	""	""	""	"MPL-Pat6"
"00456304"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"M"	""	"Turkey"	""	"0"	""	""	""	"MPL-Pat7"
"00456305"	""	""	""	"1"	""	"00006"	"{PMID:Cobos 2015:24798265}"	""	"M"	""	"United Arab Emirates"	""	"0"	""	""	""	"MPL-Pat8"
"00467309"	""	""	""	"1"	""	"00006"	"{PMID:Soden 2014:25473036}"	"family, 1 affected"	""	""	"United States"	""	"0"	""	""	""	"CMH678"
"00468950"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468951"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468952"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00468953"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469843"	""	""	""	"1"	""	"00006"	"{PMID:Jacob 2025:39706863}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	""	"India"	""	"0"	""	""	""	""
"00469844"	""	""	""	"1"	""	"00006"	"{PMID:Jacob 2025:39706863}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	""	"India"	""	"0"	""	""	""	""
"00469845"	""	""	""	"1"	""	"00006"	"{PMID:Jacob 2025:39706863}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	""	"India"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 54
"{{individualid}}"	"{{diseaseid}}"
"00000014"	"00138"
"00000014"	"05378"
"00000054"	"01617"
"00034575"	"04161"
"00034576"	"04161"
"00034577"	"04161"
"00034578"	"04161"
"00034579"	"04161"
"00034580"	"00000"
"00034581"	"00000"
"00034582"	"04161"
"00034584"	"04161"
"00034585"	"04161"
"00034586"	"04161"
"00034587"	"00000"
"00034588"	"04161"
"00034589"	"04161"
"00034590"	"00000"
"00034591"	"04161"
"00034592"	"04161"
"00034593"	"04161"
"00037451"	"04161"
"00037452"	"04161"
"00037453"	"00000"
"00037454"	"04161"
"00037455"	"04161"
"00037456"	"04161"
"00037457"	"04161"
"00037458"	"00000"
"00037459"	"04161"
"00037460"	"04161"
"00037748"	"04161"
"00165049"	"01930"
"00168036"	"01929"
"00290571"	"00198"
"00331464"	"05517"
"00331465"	"05517"
"00331862"	"01930"
"00419628"	"00198"
"00456235"	"00198"
"00456239"	"00198"
"00456301"	"00198"
"00456302"	"00198"
"00456303"	"00198"
"00456304"	"00198"
"00456305"	"00198"
"00467309"	"00198"
"00468950"	"00198"
"00468951"	"00198"
"00468952"	"00198"
"00468953"	"00198"
"00469843"	"05517"
"00469844"	"05517"
"00469845"	"05517"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00198, 01617, 01929, 01930, 04161, 05378, 05446, 05517
## Count = 43
"{{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}}"
"0000028004"	"04161"	"00034576"	"00006"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028005"	"04161"	"00034577"	"01178"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028006"	"04161"	"00034575"	"01178"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028007"	"04161"	"00034578"	"01178"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028008"	"04161"	"00034579"	"01178"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028009"	"04161"	"00034582"	"01178"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028010"	"04161"	"00034584"	"01178"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028011"	"04161"	"00034585"	"01178"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028281"	"04161"	"00034586"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028282"	"04161"	"00037460"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028283"	"04161"	"00037459"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028284"	"04161"	"00037457"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028285"	"04161"	"00037456"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028286"	"04161"	"00037455"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028287"	"04161"	"00034588"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028288"	"04161"	"00034589"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028289"	"04161"	"00037454"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028290"	"04161"	"00037452"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028291"	"04161"	"00037451"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028292"	"04161"	"00034593"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028293"	"04161"	"00034592"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028294"	"04161"	"00034591"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000028295"	"04161"	"00037748"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000129922"	"01930"	"00165049"	"02508"	"Familial, autosomal recessive"	"09y00m"	""	""	"09y00m"	""	""	""	""	""	""	""	""	""
"0000154673"	"01617"	"00000054"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	"ABL"	"abetalipoproteinaemia"	""
"0000249656"	"05517"	"00331464"	"00000"	"Familial, autosomal recessive"	""	"Skeletal dysplasia, Proptosis, Short neck, Thoracic hypoplasia, Congenital bilateral hip disl No"	""	""	""	""	""	""	""	""	"Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)"	"skeletal dysplasia"	""
"0000249657"	"05517"	"00331465"	"00000"	"Familial, autosomal recessive"	""	"Recurrent fractures, Neonatal hypotonia, Recurrent lower respiratory tract infections, Cer No"	""	""	""	""	""	""	""	""	"Lysosomal Storage Diseases with Skeletal Involvement (dysostosis multiplex group)"	"skeletal dysplasia"	""
"0000310909"	"00198"	"00419628"	"02300"	"Familial, autosomal recessive"	"6y"	""	""	""	""	""	""	""	""	""	""	"metabolic abnormality"	""
"0000344754"	"00198"	"00456235"	"00006"	"Familial, autosomal recessive"	""	"see paper; ... (detailed)"	"18m"	""	""	""	""	""	""	""	"ML2;ML3"	"lysosomal storage disorder"	""
"0000344758"	"00198"	"00456239"	"00006"	"Familial, autosomal recessive"	""	"see paper; ... (detailed)"	"0m"	""	""	""	""	""	""	""	"ML2;ML3"	"lysosomal storage disorder"	""
"0000344820"	"00198"	"00456301"	"00006"	"Familial, autosomal recessive"	"1y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	"ML2;ML3"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344821"	"00198"	"00456302"	"00006"	"Familial, autosomal recessive"	"1y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	"ML2;ML3"	"mucopolysaccharidosis/mucolipidosis"	""
"0000344822"	"00198"	"00456303"	"00006"	"Familial, autosomal recessive"	"3y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	"ML2;ML3"	"mucopolysaccharidosis"	""
"0000344823"	"00198"	"00456304"	"00006"	"Familial, autosomal recessive"	"4y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	"ML2;ML3"	"mucopolysaccharidosis"	""
"0000344824"	"00198"	"00456305"	"00006"	"Familial, autosomal recessive"	"2y"	"see paper; ... (detailed)"	""	""	""	""	""	""	""	""	"ML2;ML3"	"mucopolysaccharidosis"	""
"0000352516"	"00198"	"00467309"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"mucolipidosis IIa/b"	""
"0000354103"	"00198"	"00468950"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""
"0000354104"	"00198"	"00468951"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"multiple congenital anomalies"	""
"0000354105"	"00198"	"00468952"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the skeletal system"	""
"0000354106"	"00198"	"00468953"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the skeletal system"	""
"0000354988"	"05517"	"00469843"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"ML2"	"skeletal dysplasia"	""
"0000354989"	"05517"	"00469844"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"ML3"	"skeletal dysplasia"	""
"0000354990"	"05517"	"00469845"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"ML3"	"skeletal dysplasia"	""


## Screenings ## Do not remove or alter this header ##
## Count = 54
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000014"	"00000014"	"1"	"00004"	""	"2012-05-11 13:18:39"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000034"	"00000034"	"1"	"00004"	""	"2012-05-11 13:18:44"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000054"	"00000054"	"1"	"00004"	""	"2012-05-11 13:18:51"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000034647"	"00034575"	"1"	"01178"	"01178"	"2015-04-01 21:55:06"	""	""	"CSCE"	"DNA"	""	""
"0000034648"	"00034576"	"1"	"01178"	"01178"	"2015-04-01 23:58:07"	""	""	"CSCE"	"DNA"	""	""
"0000034649"	"00034577"	"1"	"01178"	"01178"	"2015-04-02 00:17:02"	""	""	"CSCE"	"DNA"	""	""
"0000034650"	"00034578"	"1"	"01178"	"01178"	"2015-04-02 00:22:58"	""	""	"CSCE"	"DNA"	""	""
"0000034651"	"00034579"	"1"	"01178"	"01178"	"2015-04-02 00:27:55"	""	""	"CSCE"	"DNA"	""	""
"0000034652"	"00034580"	"1"	"01178"	"01178"	"2015-04-02 00:31:24"	""	""	"CSCE"	"DNA"	""	""
"0000034653"	"00034581"	"1"	"01178"	"01178"	"2015-04-02 00:34:52"	""	""	"CSCE"	"DNA"	""	""
"0000034654"	"00034582"	"1"	"01178"	"01178"	"2015-04-02 03:44:27"	""	""	"CSCE"	"DNA"	""	""
"0000034655"	"00034584"	"1"	"01178"	"01178"	"2015-04-02 03:49:58"	""	""	"CSCE"	"DNA"	""	""
"0000034656"	"00034585"	"1"	"01178"	"01178"	"2015-04-02 04:53:08"	""	""	"CSCE"	"DNA"	""	""
"0000034657"	"00034586"	"1"	"01178"	"01178"	"2015-04-02 04:56:40"	""	""	"CSCE"	"DNA"	""	""
"0000034658"	"00034587"	"1"	"01178"	"01178"	"2015-04-02 05:00:03"	""	""	"CSCE"	"DNA"	""	""
"0000034659"	"00034588"	"1"	"01178"	"01178"	"2015-04-02 05:04:15"	""	""	"CSCE"	"DNA"	""	""
"0000034660"	"00034589"	"1"	"01178"	"01178"	"2015-04-02 05:08:51"	""	""	"CSCE"	"DNA"	""	""
"0000034661"	"00034590"	"1"	"01178"	"01178"	"2015-04-02 05:12:18"	""	""	"CSCE"	"DNA"	""	""
"0000034662"	"00034591"	"1"	"01178"	"01178"	"2015-04-02 05:15:29"	""	""	"CSCE"	"DNA"	""	""
"0000034663"	"00034592"	"1"	"01178"	"01178"	"2015-04-02 05:18:20"	""	""	"CSCE"	"DNA"	""	""
"0000034664"	"00034593"	"1"	"01178"	"01178"	"2015-04-02 05:23:41"	""	""	"CSCE"	"DNA"	""	""
"0000037521"	"00037451"	"1"	"01178"	"01178"	"2015-04-02 18:57:19"	""	""	"CSCE"	"DNA"	""	""
"0000037522"	"00037452"	"1"	"01178"	"01178"	"2015-04-02 19:00:40"	""	""	"CSCE"	"DNA"	""	""
"0000037523"	"00037453"	"1"	"01178"	"01178"	"2015-04-02 20:52:13"	""	""	"CSCE"	"DNA"	""	""
"0000037524"	"00037454"	"1"	"01178"	"01178"	"2015-04-02 20:55:17"	""	""	"CSCE"	"DNA"	""	""
"0000037525"	"00037455"	"1"	"01178"	"01178"	"2015-04-02 20:57:51"	""	""	"CSCE"	"DNA"	""	""
"0000037526"	"00037456"	"1"	"01178"	"01178"	"2015-04-02 21:02:00"	""	""	"CSCE"	"DNA"	""	""
"0000037527"	"00037457"	"1"	"01178"	"01178"	"2015-04-02 23:45:21"	""	""	"CSCE"	"DNA"	""	""
"0000037528"	"00037458"	"1"	"01178"	"01178"	"2015-04-02 23:47:49"	""	""	"CSCE"	"DNA"	""	""
"0000037529"	"00037459"	"1"	"01178"	"01178"	"2015-04-02 23:51:10"	""	""	"CSCE"	"DNA"	""	""
"0000037530"	"00037460"	"1"	"01178"	"01178"	"2015-04-03 00:00:51"	""	""	"CSCE"	"DNA"	""	""
"0000037980"	"00037748"	"1"	"01178"	"00006"	"2015-05-01 23:02:57"	""	""	"CSCE"	"DNA"	""	""
"0000165921"	"00165049"	"1"	"02508"	"02508"	"2018-06-21 12:39:08"	""	""	"SEQ"	"DNA"	"Fibroblasts"	""
"0000168915"	"00168036"	"1"	"02508"	"02508"	"2018-07-13 15:20:56"	""	""	"SEQ"	"DNA"	"Blood"	""
"0000291739"	"00290571"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000332683"	"00331464"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332684"	"00331465"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000333081"	"00331862"	"1"	"04002"	"04002"	"2021-02-13 15:06:06"	""	""	"SEQ"	"DNA"	""	""
"0000420932"	"00419628"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000457852"	"00456235"	"1"	"00006"	"00006"	"2024-10-24 08:52:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000457856"	"00456239"	"1"	"00006"	"00006"	"2024-10-24 08:52:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"gene panel"
"0000457918"	"00456301"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457919"	"00456302"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457920"	"00456303"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457921"	"00456304"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000457922"	"00456305"	"1"	"00006"	"00006"	"2024-10-24 09:48:27"	""	""	"SEQ"	"DNA"	""	""
"0000468972"	"00467309"	"1"	"00006"	"00006"	"2025-10-10 16:20:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470618"	"00468950"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470619"	"00468951"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470620"	"00468952"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470621"	"00468953"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000471511"	"00469843"	"1"	"00006"	"00006"	"2025-11-20 12:33:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471512"	"00469844"	"1"	"00006"	"00006"	"2025-11-20 12:33:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000471513"	"00469845"	"1"	"00006"	"00006"	"2025-11-20 12:33:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 82
"{{screeningid}}"	"{{geneid}}"
"0000000014"	"ALG6"
"0000000014"	"ATP7B"
"0000000014"	"CFTR"
"0000000014"	"DPYD"
"0000000014"	"ETFB"
"0000000014"	"GLB1"
"0000000014"	"GNPTAB"
"0000000014"	"HEXB"
"0000000014"	"IGHMBP2"
"0000000014"	"MYO5A"
"0000000014"	"NHLRC1"
"0000000014"	"NPHP4"
"0000000014"	"NPHS1"
"0000000014"	"PKHD1"
"0000000014"	"SERPINA1"
"0000000014"	"SFTPB"
"0000000014"	"SGSH"
"0000000014"	"TSFM"
"0000000034"	"ATP7B"
"0000000034"	"CBS"
"0000000034"	"CYP21A2"
"0000000034"	"DPYD"
"0000000034"	"ETFB"
"0000000034"	"GLB1"
"0000000034"	"GNPTAB"
"0000000034"	"IGHMBP2"
"0000000034"	"NHLRC1"
"0000000034"	"SERPINA1"
"0000000034"	"SLC26A2"
"0000000034"	"SMPD1"
"0000000054"	"ATM"
"0000000054"	"ATP7B"
"0000000054"	"DPYD"
"0000000054"	"ETFB"
"0000000054"	"GALC"
"0000000054"	"GLB1"
"0000000054"	"GNPTAB"
"0000000054"	"LAMA2"
"0000000054"	"LAMA3"
"0000000054"	"NHLRC1"
"0000000054"	"NPHS1"
"0000000054"	"SERPINA1"
"0000000054"	"SLC26A2"
"0000034647"	"GNPTAB"
"0000034648"	"GNPTAB"
"0000034649"	"GNPTAB"
"0000034650"	"GNPTAB"
"0000034651"	"GNPTAB"
"0000034652"	"GNPTAB"
"0000034653"	"GNPTAB"
"0000034654"	"GNPTAB"
"0000034655"	"GNPTAB"
"0000034656"	"GNPTAB"
"0000034657"	"GNPTAB"
"0000034658"	"GNPTAB"
"0000034659"	"GNPTAB"
"0000034660"	"GNPTAB"
"0000034661"	"GNPTAB"
"0000034662"	"GNPTAB"
"0000034663"	"GNPTAB"
"0000034664"	"GNPTAB"
"0000037521"	"GNPTAB"
"0000037522"	"GNPTAB"
"0000037523"	"GNPTAB"
"0000037524"	"GNPTAB"
"0000037525"	"GNPTAB"
"0000037526"	"GNPTAB"
"0000037527"	"GNPTAB"
"0000037528"	"GNPTAB"
"0000037529"	"GNPTAB"
"0000037530"	"GNPTAB"
"0000037980"	"GNPTAB"
"0000165921"	"GNPTAB"
"0000168915"	"GNPTAB"
"0000332683"	"GNPTAB"
"0000332684"	"GNPTAB"
"0000333081"	"GNPTAB"
"0000457918"	"GNPTAB"
"0000457919"	"GNPTAB"
"0000457920"	"GNPTAB"
"0000457921"	"GNPTAB"
"0000457922"	"GNPTAB"


## 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 = 404
"{{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}}"
"0000000273"	"0"	"90"	"12"	"102147250"	"102147251"	"del"	"0"	"00002"	"GNPTAB_000001"	"g.102147250_102147251del"	""	"{PMID:Bell 2011:21228398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101753472_101753473del"	""	"pathogenic"	""
"0000000274"	"0"	"90"	"12"	"102159901"	"102159901"	"del"	"0"	"00002"	"GNPTAB_000002"	"g.102159901del"	""	"{PMID:Bell 2011:21228398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101766123del"	""	"pathogenic"	""
"0000000275"	"0"	"90"	"12"	"102164858"	"102164859"	"del"	"0"	"00002"	"GNPTAB_000003"	"g.102164858_102164859del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101771080_101771081del"	""	"pathogenic"	""
"0000000276"	"0"	"90"	"12"	"102153824"	"102153827"	"dup"	"0"	"00002"	"GNPTAB_000004"	"g.102153824_102153827dup"	""	"{PMID:Bell 2011:21228398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101760046_101760049dup"	""	"pathogenic"	""
"0000000277"	"0"	"90"	"12"	"102163960"	"102163960"	"subst"	"3.65634E-5"	"00002"	"GNPTAB_000005"	"g.102163960G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770182G>A"	""	"pathogenic"	""
"0000061766"	"0"	"70"	"12"	"102190521"	"102190521"	"subst"	"0.0040315"	"01178"	"GNPTAB_000008"	"g.102190521C>T"	"11/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs117566084"	"0"	""	""	"g.101796743C>T"	""	"likely pathogenic"	""
"0000061767"	"0"	"79"	"12"	"102183808"	"102183810"	"del"	"0"	"01178"	"GNPTAB_000006"	"g.102183808_102183810del"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs281864952"	"0"	""	""	"g.101790030_101790032del"	""	"pathogenic"	""
"0000061768"	"0"	"70"	"12"	"102182354"	"102182354"	"subst"	"8.94869E-5"	"01178"	"GNPTAB_000007"	"g.102182354T>C"	"3/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs140656599"	"0"	""	""	"g.101788576T>C"	""	"likely pathogenic"	""
"0000061769"	"0"	"50"	"12"	"102179861"	"102179861"	"subst"	"0.000471326"	"01178"	"GNPTAB_000010"	"g.102179861A>T"	""	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.101786083A>T"	""	"VUS"	""
"0000061770"	"0"	"77"	"12"	"102179801"	"102179801"	"subst"	"8.13048E-6"	"01178"	"GNPTAB_000011"	"g.102179801C>G"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.101786023C>G"	""	"likely pathogenic"	""
"0000061771"	"0"	"50"	"12"	"102174391"	"102174391"	"subst"	"6.9145E-5"	"01178"	"GNPTAB_000012"	"g.102174391C>T"	"1/677 controls"	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.101780613C>T"	""	"VUS"	""
"0000061772"	"0"	"50"	"12"	"102164821"	"102164821"	"subst"	"0"	"01178"	"GNPTAB_000013"	"g.102164821T>C"	"1/677 controls"	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.101771043T>C"	""	"VUS"	""
"0000061773"	"0"	"70"	"12"	"102164336"	"102164336"	"subst"	"1.22015E-5"	"01178"	"GNPTAB_000014"	"g.102164336T>C"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs137853824"	"0"	""	""	"g.101770558T>C"	""	"likely pathogenic"	""
"0000061774"	"0"	"70"	"12"	"102163830"	"102163830"	"subst"	"0"	"01178"	"GNPTAB_000015"	"g.102163830T>C"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.101770052T>C"	""	"likely pathogenic"	""
"0000061775"	"0"	"70"	"12"	"102163800"	"102163800"	"subst"	"1.62612E-5"	"01178"	"GNPTAB_000016"	"g.102163800T>C"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs145281185"	"0"	""	""	"g.101770022T>C"	""	"likely pathogenic"	""
"0000061776"	"0"	"70"	"12"	"102161860"	"102161860"	"subst"	"8.12288E-6"	"01178"	"GNPTAB_000017"	"g.102161860C>A"	"2/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs137853822"	"0"	""	""	"g.101768082C>A"	""	"likely pathogenic"	""
"0000061777"	"0"	"50"	"12"	"102160052"	"102160052"	"subst"	"0.000467594"	"01178"	"GNPTAB_000024"	"g.102160052A>C"	"1/677 controls"	""	""	""	""	"Germline"	"no"	"rs145586576"	"0"	""	""	"g.101766274A>C"	""	"VUS"	""
"0000061778"	"0"	"70"	"12"	"102160048"	"102160048"	"subst"	"0.000715546"	"01178"	"GNPTAB_000025"	"g.102160048A>G"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs149718548"	"0"	""	""	"g.101766270A>G"	""	"likely pathogenic"	""
"0000061779"	"0"	"70"	"12"	"102159026"	"102159026"	"subst"	"5.70465E-5"	"01178"	"GNPTAB_000026"	"g.102159026T>G"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs142025274"	"0"	""	""	"g.101765248T>G"	""	"likely pathogenic"	""
"0000061780"	"0"	"50"	"12"	"102158892"	"102158892"	"subst"	"4.06141E-6"	"01178"	"GNPTAB_000034"	"g.102158892T>C"	"1/677 controls"	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.101765114T>C"	""	"VUS"	""
"0000061781"	"0"	"70"	"12"	"102158820"	"102158820"	"subst"	"0"	"01178"	"GNPTAB_000033"	"g.102158820G>C"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs137853823"	"0"	""	""	"g.101765042G>C"	""	"likely pathogenic"	""
"0000061782"	"0"	"70"	"12"	"102158763"	"102158764"	"inv"	"0"	"01178"	"GNPTAB_000032"	"g.102158763_102158764inv"	"43/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.101764985_101764986inv"	""	"likely pathogenic"	""
"0000061783"	"0"	"70"	"12"	"102158752"	"102158752"	"subst"	"0"	"01178"	"GNPTAB_000031"	"g.102158752C>T"	"2/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.101764974C>T"	""	"likely pathogenic"	""
"0000064646"	"0"	"70"	"12"	"102158747"	"102158747"	"subst"	"1.21859E-5"	"01178"	"GNPTAB_000030"	"g.102158747C>T"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.101764969C>T"	""	"likely pathogenic"	""
"0000064647"	"0"	"70"	"12"	"102158710"	"102158710"	"subst"	"4.0627E-6"	"01178"	"GNPTAB_000029"	"g.102158710G>A"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs142172397"	"0"	""	""	"g.101764932G>A"	""	"likely pathogenic"	""
"0000064648"	"0"	"50"	"12"	"102158614"	"102158614"	"subst"	"4.06772E-6"	"01178"	"GNPTAB_000028"	"g.102158614T>G"	"1/677 controls"	""	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.101764836T>G"	""	"VUS"	""
"0000064649"	"0"	"77"	"12"	"102158354"	"102158354"	"subst"	"0.000256154"	"01178"	"GNPTAB_000027"	"g.102158354C>T"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs183435240"	"0"	""	""	"g.101764576C>T"	""	"likely pathogenic"	""
"0000064650"	"0"	"70"	"12"	"102158113"	"102158113"	"subst"	"0.000203163"	"01178"	"GNPTAB_000023"	"g.102158113C>T"	"2/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs139411012"	"0"	""	""	"g.101764335C>T"	""	"likely pathogenic"	""
"0000064651"	"0"	"70"	"12"	"102155357"	"102155357"	"subst"	"4.06174E-5"	"01178"	"GNPTAB_000022"	"g.102155357T>C"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs192687061"	"0"	""	""	"g.101761579T>C"	""	"likely pathogenic"	""
"0000064652"	"0"	"70"	"12"	"102147181"	"102147181"	"subst"	"4.06154E-6"	"01178"	"GNPTAB_000021"	"g.102147181G>A"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.101753403G>A"	""	"likely pathogenic"	""
"0000064653"	"0"	"50"	"12"	"102147180"	"102147180"	"subst"	"8.52923E-5"	"01178"	"GNPTAB_000020"	"g.102147180C>T"	"1/677 controls"	""	""	""	""	"Germline"	"no"	"rs376398528"	"0"	""	""	"g.101753402C>T"	""	"VUS"	""
"0000064654"	"0"	"70"	"12"	"102147154"	"102147154"	"subst"	"0.00325781"	"01178"	"GNPTAB_000019"	"g.102147154C>T"	"8/1013 patients"	""	""	""	""	"Germline"	"yes"	"rs137853825"	"0"	""	""	"g.101753376C>T"	""	"likely pathogenic"	""
"0000064655"	"0"	"70"	"12"	"102141006"	"102141006"	"subst"	"8.13451E-5"	"01178"	"GNPTAB_000018"	"g.102141006T>C"	"1/1013 patients"	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.101747228T>C"	""	"likely pathogenic"	""
"0000065290"	"0"	"70"	"12"	"102224384"	"102224384"	"subst"	"0.00032045"	"01178"	"GNPTAB_000009"	"g.102224384A>C"	"2/1013 patients"	""	""	""	""	"Unknown"	"?"	"rs141329633"	"0"	""	""	"g.101830606A>C"	""	"likely pathogenic"	""
"0000248023"	"0"	"10"	"12"	"102154900"	"102154900"	"subst"	"0.598725"	"02325"	"GNPTAB_000058"	"g.102154900A>G"	""	""	""	"GNPTAB(NM_024312.4):c.3135+5T>C, GNPTAB(NM_024312.5):c.3135+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101761122A>G"	""	"benign"	""
"0000253284"	"0"	"10"	"12"	"102154900"	"102154900"	"subst"	"0.598725"	"01943"	"GNPTAB_000058"	"g.102154900A>G"	""	""	""	"GNPTAB(NM_024312.4):c.3135+5T>C, GNPTAB(NM_024312.5):c.3135+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101761122A>G"	""	"benign"	""
"0000253852"	"0"	"10"	"12"	"102151113"	"102151113"	"subst"	"0.320181"	"01943"	"GNPTAB_000037"	"g.102151113A>G"	""	""	""	"GNPTAB(NM_024312.4):c.3336-25T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101757335A>G"	""	"benign"	""
"0000255693"	"0"	"90"	"12"	"102157978"	"102157978"	"subst"	"4.06412E-6"	"01943"	"GNPTAB_000059"	"g.102157978A>C"	""	""	""	"GNPTAB(NM_024312.4):c.2715+2T>G, GNPTAB(NM_024312.5):c.2715+2T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101764200A>C"	""	"pathogenic"	""
"0000281105"	"0"	"10"	"12"	"102158763"	"102158763"	"subst"	"0.59013"	"02325"	"GNPTAB_000045"	"g.102158763T>C"	""	""	""	"GNPTAB(NM_024312.4):c.1932A>G (p.T644=), GNPTAB(NM_024312.5):c.1932A>G (p.T644=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101764985T>C"	""	"benign"	""
"0000284742"	"0"	"30"	"12"	"102224513"	"102224515"	"del"	"0"	"02326"	"GNPTAB_000056"	"g.102224513_102224515del"	""	""	""	"GNPTAB(NM_024312.4):c.-41_-39delGGC, GNPTAB(NM_024312.5):c.-41_-39delGGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101830735_101830737del"	""	"likely benign"	""
"0000284743"	"0"	"10"	"12"	"102158764"	"102158764"	"subst"	"0.0135396"	"02326"	"GNPTAB_000046"	"g.102158764G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1931C>T (p.(Thr644Ile)), GNPTAB(NM_024312.5):c.1931C>T (p.T644I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101764986G>A"	""	"benign"	""
"0000284744"	"0"	"10"	"12"	"102142869"	"102142869"	"subst"	"0.0134434"	"02326"	"GNPTAB_000057"	"g.102142869T>A"	""	""	""	"GNPTAB(NM_024312.5):c.3693+10A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101749091T>A"	""	"benign"	""
"0000288553"	"0"	"10"	"12"	"102224513"	"102224515"	"del"	"0"	"01943"	"GNPTAB_000055"	"g.102224513_102224515del"	""	""	""	"GNPTAB(NM_024312.4):c.-41_-39delGGC, GNPTAB(NM_024312.5):c.-41_-39delGGC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101830735_101830737del"	""	"benign"	""
"0000288554"	"0"	"99"	"12"	"102164207"	"102164207"	"subst"	"1.21846E-5"	"01943"	"GNPTAB_000050"	"g.102164207G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1090C>T (p.R364*), GNPTAB(NM_024312.5):c.1090C>T (p.R364*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101770429G>A"	""	"pathogenic"	""
"0000288555"	"0"	"90"	"12"	"102163960"	"102163960"	"subst"	"3.65634E-5"	"01943"	"GNPTAB_000005"	"g.102163960G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1123C>T (p.R375*), GNPTAB(NM_024312.5):c.1123C>T (p.R375*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101770182G>A"	""	"pathogenic"	""
"0000288556"	"0"	"13"	"12"	"102224310"	"102224310"	"subst"	"0.00116287"	"01943"	"GNPTAB_000053"	"g.102224310G>C"	""	""	""	"GNPTAB(NM_024312.4):c.117+27C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101830532G>C"	""	"benign"	""
"0000288557"	"0"	"90"	"12"	"102163887"	"102163887"	"subst"	"1.62488E-5"	"01943"	"GNPTAB_000049"	"g.102163887G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1196C>T (p.S399F), GNPTAB(NM_024312.5):c.1196C>T (p.(Ser399Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101770109G>A"	""	"pathogenic"	""
"0000288558"	"0"	"10"	"12"	"102190521"	"102190521"	"subst"	"0.0040315"	"01943"	"GNPTAB_000008"	"g.102190521C>T"	""	""	""	"GNPTAB(NM_024312.4):c.137G>A (p.R46Q, p.(Arg46Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101796743C>T"	""	"benign"	""
"0000288559"	"0"	"90"	"12"	"102159967"	"102159967"	"subst"	"1.6246E-5"	"01943"	"GNPTAB_000048"	"g.102159967C>T"	""	""	""	"GNPTAB(NM_024312.4):c.1514G>A (p.C505Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101766189C>T"	""	"pathogenic"	""
"0000288560"	"0"	"90"	"12"	"102159901"	"102159901"	"del"	"0"	"01943"	"GNPTAB_000047"	"g.102159901del"	""	""	""	"GNPTAB(NM_024312.4):c.1581delC (p.C528Vfs*19)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101766123del"	""	"pathogenic"	""
"0000288561"	"0"	"11"	"12"	"102224436"	"102224436"	"subst"	"0.115599"	"01943"	"GNPTAB_000054"	"g.102224436C>T"	""	""	""	"GNPTAB(NM_024312.4):c.18G>A (p.L6=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101830658C>T"	""	"benign"	""
"0000288562"	"0"	"10"	"12"	"102158763"	"102158763"	"subst"	"0.59013"	"01943"	"GNPTAB_000045"	"g.102158763T>C"	""	""	""	"GNPTAB(NM_024312.4):c.1932A>G (p.T644=), GNPTAB(NM_024312.5):c.1932A>G (p.T644=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101764985T>C"	""	"benign"	""
"0000288563"	"0"	"90"	"12"	"102158621"	"102158621"	"subst"	"4.06805E-6"	"01943"	"GNPTAB_000044"	"g.102158621C>A"	""	""	""	"GNPTAB(NM_024312.4):c.2074G>T (p.E692*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101764843C>A"	""	"pathogenic"	""
"0000288564"	"0"	"90"	"12"	"102158482"	"102158482"	"subst"	"4.07874E-6"	"01943"	"GNPTAB_000043"	"g.102158482G>T"	""	""	""	"GNPTAB(NM_024312.4):c.2213C>A (p.S738*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101764704G>T"	""	"pathogenic"	""
"0000288565"	"0"	"99"	"12"	"102183808"	"102183810"	"del"	"0"	"01943"	"GNPTAB_000006"	"g.102183808_102183810del"	""	""	""	"GNPTAB(NM_024312.4):c.232_234delGTT (p.V78del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101790030_101790032del"	""	"pathogenic"	""
"0000288566"	"0"	"30"	"12"	"102158113"	"102158113"	"subst"	"0.000203163"	"01943"	"GNPTAB_000023"	"g.102158113C>T"	""	""	""	"GNPTAB(NM_024312.4):c.2582G>A (p.R861K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101764335C>T"	""	"likely benign"	""
"0000288567"	"0"	"90"	"12"	"102157994"	"102157994"	"subst"	"0"	"01943"	"GNPTAB_000042"	"g.102157994G>A"	""	""	""	"GNPTAB(NM_024312.4):c.2701C>T (p.Q901*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101764216G>A"	""	"pathogenic"	""
"0000288568"	"0"	"90"	"12"	"102157979"	"102157979"	"subst"	"3.24958E-5"	"01943"	"GNPTAB_000041"	"g.102157979C>T"	""	""	""	"GNPTAB(NM_024312.4):c.2715+1G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101764201C>T"	""	"pathogenic"	""
"0000288570"	"0"	"90"	"12"	"102154949"	"102154949"	"subst"	"4.06279E-6"	"01943"	"GNPTAB_000039"	"g.102154949G>A"	""	""	""	"GNPTAB(NM_024312.4):c.3091C>T (p.R1031*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101761171G>A"	""	"pathogenic"	""
"0000288572"	"0"	"99"	"12"	"102147250"	"102147251"	"del"	"0"	"01943"	"GNPTAB_000036"	"g.102147250_102147251del"	""	""	""	"GNPTAB(NM_024312.4):c.3503_3504delTC (p.L1168Qfs*5), GNPTAB(NM_024312.5):c.3503_3504delTC (p.L1168Qfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101753472_101753473del"	""	"pathogenic"	""
"0000288573"	"0"	"10"	"12"	"102147142"	"102147142"	"subst"	"0.0327446"	"01943"	"GNPTAB_000035"	"g.102147142G>T"	""	""	""	"GNPTAB(NM_024312.4):c.3602+8C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101753364G>T"	""	"benign"	""
"0000288574"	"0"	"10"	"12"	"102182232"	"102182233"	"del"	"0"	"01943"	"GNPTAB_000052"	"g.102182232_102182233del"	""	""	""	"GNPTAB(NM_024312.4):c.365+96_365+97delGT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101788454_101788455del"	""	"benign"	""
"0000323039"	"0"	"50"	"12"	"102179979"	"102179979"	"subst"	"0"	"01804"	"GNPTAB_000051"	"g.102179979A>G"	""	""	""	"GNPTAB(NM_024312.4):c.382T>C (p.(Cys128Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101786201A>G"	""	"VUS"	""
"0000345081"	"0"	"30"	"12"	"102147154"	"102147154"	"subst"	"0.00325781"	"02327"	"GNPTAB_000019"	"g.102147154C>T"	""	""	""	"GNPTAB(NM_024312.4):c.3598G>A (p.E1200K, p.(Glu1200Lys)), GNPTAB(NM_024312.5):c.3598G>A (p.E1200K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.101753376C>T"	""	"likely benign"	""
"0000369752"	"11"	"99"	"12"	"102224444"	"102224444"	"subst"	"2.06943E-5"	"02508"	"GNPTAB_000060"	"g.102224444T>G"	""	"{DOI:Kudo et al. 2006:10.1086/500849}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101830666T>G"	""	"pathogenic"	""
"0000371813"	"3"	"99"	"12"	"102224432"	"102224432"	"subst"	"0"	"02508"	"GNPTAB_000061"	"g.102224432T>C"	""	"{DOI:Tüysüz 2016: 10.1002/ajmg.a.37543}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101830654T>C"	""	"pathogenic"	""
"0000371814"	"0"	"99"	"12"	"102224410"	"102224410"	"subst"	"0"	"02508"	"GNPTAB_000062"	"g.102224410G>T"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101830632G>T"	""	"pathogenic"	""
"0000371815"	"0"	"99"	"12"	"102224366"	"102224367"	"del"	"0"	"02508"	"GNPTAB_000063"	"g.102224366_102224367del"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101830588_101830589del"	""	"pathogenic"	""
"0000371816"	"0"	"99"	"12"	"102224356"	"102224356"	"del"	"0"	"02508"	"GNPTAB_000064"	"g.102224356del"	""	"{DOI:Liu 2016:10.1371/journal.pone.0163204}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101830578del"	""	"pathogenic"	""
"0000371817"	"0"	"99"	"12"	"102224354"	"102224354"	"subst"	"0"	"02508"	"GNPTAB_000065"	"g.102224354C>G"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101830576C>G"	""	"pathogenic"	""
"0000371818"	"0"	"99"	"12"	"102190541"	"102190541"	"subst"	"0"	"02508"	"GNPTAB_000066"	"g.102190541C>T"	""	"{DOI:Liu 2016:10.1371/journal.pone.0163204}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101796763C>T"	""	"pathogenic"	""
"0000371819"	"3"	"99"	"12"	"102190542"	"102190542"	"subst"	"0"	"02508"	"GNPTAB_000067"	"g.102190542T>C"	""	"{DOI:Bargal 2006:10.1016/j.ymgme.2006.03.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101796764T>C"	""	"pathogenic"	""
"0000371820"	"3"	"99"	"12"	"102157980"	"102190540"	"del"	"0"	"02508"	"GNPTAB_000068"	"g.102157980_102190540del"	""	""	""	""	"delEx2-13"	"Germline"	""	""	"0"	""	""	"g.101764202_101796762del"	""	"pathogenic"	""
"0000371821"	"3"	"99"	"12"	"102190538"	"102190538"	"del"	"0"	"02508"	"GNPTAB_000069"	"g.102190538del"	""	"{DOI:Encarnação 2009:10.1111/j.1399-0004.2009.01185.x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101796760del"	""	"pathogenic"	""
"0000371822"	"0"	"99"	"12"	"102190526"	"102190526"	"subst"	"0"	"02508"	"GNPTAB_000070"	"g.102190526C>T"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101796748C>T"	""	"pathogenic"	""
"0000371855"	"0"	"99"	"12"	"102190522"	"102190522"	"subst"	"8.13643E-6"	"02508"	"GNPTAB_000071"	"g.102190522G>A"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101796744G>A"	""	"pathogenic"	""
"0000371856"	"0"	"99"	"12"	"102190496"	"102190496"	"dup"	"0"	"02508"	"GNPTAB_000072"	"g.102190496dup"	""	"{DOI:Zarghooni & Dittakavi 2009:10.1002/ajmg.a.33134}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101796718dup"	""	"pathogenic"	""
"0000371857"	"21"	"99"	"12"	"102190490"	"102190490"	"subst"	"4.06557E-6"	"02508"	"GNPTAB_000073"	"g.102190490A>T"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101796712A>T"	""	"pathogenic"	""
"0000371858"	"21"	"99"	"12"	"102190487"	"102190487"	"del"	"0"	"02508"	"GNPTAB_000074"	"g.102190487del"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101796709del"	""	"pathogenic"	""
"0000371859"	"0"	"99"	"12"	"102183816"	"102190540"	"dup"	"0"	"02508"	"GNPTAB_000075"	"g.102183816_102190540dup"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	"Duplication ex 2"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101790038_101796762dup"	""	"pathogenic"	""
"0000371860"	"0"	"99"	"12"	"102190462"	"102190462"	"subst"	"0"	"02508"	"GNPTAB_000076"	"g.102190462G>A"	""	"{DOI:Oussoren 2018:10.1007/s10545-018-0186-z}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101796684G>A"	""	"pathogenic"	""
"0000371861"	"0"	"99"	"12"	"102183812"	"102183812"	"subst"	"0"	"02508"	"GNPTAB_000077"	"g.102183812T>C"	""	"{DOI:Ludwig 2017:10.1016/j.biocel.2017.09.006}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101790034T>C"	""	"pathogenic"	""
"0000371862"	"11"	"99"	"12"	"102183808"	"102183810"	"del"	"0"	"02508"	"GNPTAB_000006"	"g.102183808_102183810del"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101790030_101790032del"	""	"pathogenic"	""
"0000371863"	"3"	"99"	"12"	"102183797"	"102183797"	"subst"	"0"	"02508"	"GNPTAB_000078"	"g.102183797C>A"	""	"{DOI:Encarnacao 2009:10.1111/j.1399-0004.2009.01185.x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101790019C>A"	""	"pathogenic"	""
"0000371865"	"0"	"99"	"12"	"102183729"	"102183729"	"subst"	"0"	"02508"	"GNPTAB_000079"	"g.102183729G>A"	""	"{DOI:Paik 2005:10.1002/humu.20205}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101789951G>A"	""	"pathogenic"	""
"0000371866"	"0"	"99"	"12"	"102182349"	"102182350"	"del"	"0"	"02508"	"GNPTAB_000080"	"g.102182349_102182350del"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101788571_101788572del"	""	"pathogenic"	""
"0000371867"	"0"	"99"	"12"	"102179996"	"102179996"	"subst"	"0"	"02508"	"GNPTAB_000081"	"g.102179996C>G"	""	"{DOI:Oussoren 2018:10.1007/s10545-018-0186-z}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101786218C>G"	""	"pathogenic"	""
"0000371868"	"3"	"99"	"12"	"102179921"	"102179921"	"del"	"0"	"02508"	"GNPTAB_000082"	"g.102179921del"	""	"{DOI:Encarnacao 2009:10.1111/j.1399-0004.2009.01185.x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101786143del"	""	"pathogenic"	""
"0000371871"	"0"	"99"	"12"	"102179890"	"102179891"	"del"	"0"	"02508"	"GNPTAB_000083"	"g.102179890_102179891del"	""	"{DOI:Yang 2017:10.1186/s13023-016-0556-2}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101786112_101786113del"	""	"pathogenic"	""
"0000371874"	"0"	"99"	"12"	"102179843"	"102179844"	"ins"	"0"	"02508"	"GNPTAB_000084"	"g.102179843_102179844insT"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101786065_101786066insT"	""	"pathogenic"	""
"0000371875"	"0"	"99"	"12"	"102179837"	"102179838"	"del"	"0"	"02508"	"GNPTAB_000085"	"g.102179837_102179838delinsC"	""	"{DOI:Liu 2016:10.1371/journal.pone.0163204}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101786059_101786060delinsC"	""	"pathogenic"	""
"0000371876"	"0"	"99"	"12"	"102179816"	"102179816"	"subst"	"0"	"02508"	"GNPTAB_000086"	"g.102179816A>T"	""	"{DOI:Zarghooni & Dittakavi 2009:10.1002/ajmg.a.33134}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101786038A>T"	""	"pathogenic"	""
"0000371877"	"0"	"99"	"12"	"102179792"	"102179792"	"subst"	"4.06742E-6"	"02508"	"GNPTAB_000087"	"g.102179792T>A"	""	"{DOI:Kudo 2006:10.1086/500849}"	""	""	"Splicing defect or p.Asp190Val"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101786014T>A"	""	"pathogenic"	""
"0000371878"	"0"	"99"	"12"	"102179787"	"102179787"	"subst"	"0"	"02508"	"GNPTAB_000088"	"g.102179787T>G"	""	"{DOI:Zarghooni & Dittakavi 2009:10.1002/ajmg.a.33134}"	""	""	"Exon 5 splicing affected. Exon 5 skipped."	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101786009T>G"	""	"pathogenic"	""
"0000371881"	"0"	"99"	"12"	"102174357"	"102174357"	"subst"	"0"	"02508"	"GNPTAB_000089"	"g.102174357T>G"	""	"{DOI:Zarghooni & Dittakavi 2009:10.1002/ajmg.a.33134}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101780579T>G"	""	"pathogenic"	""
"0000371882"	"0"	"99"	"12"	"102174359"	"102174362"	"del"	"0"	"02508"	"GNPTAB_000090"	"g.102174359_102174362del"	""	"{DOI:Kudo 2006:10.1086/500849}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101780581_101780584del"	""	"pathogenic"	""
"0000371883"	"0"	"99"	"12"	"102174344"	"102174348"	"del"	"0"	"02508"	"GNPTAB_000091"	"g.102174344_102174348del"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101780566_101780570del"	""	"pathogenic"	""
"0000371888"	"11"	"99"	"12"	"102174065"	"102174065"	"subst"	"0"	"02508"	"GNPTAB_000092"	"g.102174065C>T"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101780287C>T"	""	"pathogenic"	""
"0000371889"	"11"	"99"	"12"	"102174070"	"102174070"	"subst"	"3.25187E-5"	"02508"	"GNPTAB_000093"	"g.102174070A>C"	""	"{DOI:Yang 2017:10.1186/s13023-016-0556-2}"	""	""	"Affect splicing exon 7, cDNA analysis reveal p.Thr213Phefs*11."	"Germline"	""	""	"0"	""	""	"g.101780292A>C"	""	"pathogenic"	""
"0000371890"	"11"	"99"	"12"	"102174052"	"102174055"	"del"	"0"	"02508"	"GNPTAB_000094"	"g.102174052_102174055del"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101780274_101780277del"	""	"pathogenic"	""
"0000371891"	"0"	"99"	"12"	"102173955"	"102173955"	"dup"	"0"	"02508"	"GNPTAB_000095"	"g.102173955dup"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101780177dup"	""	"pathogenic"	""
"0000371892"	"21"	"99"	"12"	"102173950"	"102173951"	"ins"	"0"	"02508"	"GNPTAB_000096"	"g.102173950_102173951insT"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101780172_101780173insT"	""	"pathogenic"	""
"0000371893"	"0"	"99"	"12"	"102173943"	"102173947"	"del"	"0"	"02508"	"GNPTAB_000097"	"g.102173943_102173947del"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101780165_101780169del"	""	"pathogenic"	""
"0000371894"	"21"	"99"	"12"	"102173930"	"102173930"	"subst"	"0"	"02508"	"GNPTAB_000098"	"g.102173930C>T"	""	"{DOI:Steet 2005:10.1002/ajmg.a.30498}"	""	""	"Splicing defect, exon 7 skipped."	"Germline"	""	""	"0"	""	""	"g.101780152C>T"	""	"pathogenic"	""
"0000371895"	"0"	"99"	"12"	"102164879"	"102164879"	"del"	"0"	"02508"	"GNPTAB_000099"	"g.102164879del"	""	"{DOI:Ludwig 2017:10.1016/j.biocel.2017.09.006}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101771101del"	""	"pathogenic"	""
"0000371896"	"0"	"99"	"12"	"102164875"	"102164875"	"subst"	"4.06194E-6"	"02508"	"GNPTAB_000100"	"g.102164875G>A"	""	"{DOI:Kudo 2006:10.1086/500849}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101771097G>A"	""	"pathogenic"	""
"0000371897"	"0"	"99"	"12"	"102164872"	"102164872"	"subst"	"0"	"02508"	"GNPTAB_000101"	"g.102164872C>A"	""	"{DOI:Cobos 2014:10.1007/8904_2014_308}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101771094C>A"	""	"pathogenic"	""
"0000371898"	"11"	"99"	"12"	"102164859"	"102164859"	"del"	"0"	"02508"	"GNPTAB_000102"	"g.102164859del"	""	"{DOI:Kudo 2006: 10.1086/500849}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101771081del"	""	"pathogenic"	""
"0000371899"	"0"	"99"	"12"	"102164851"	"102164851"	"dup"	"0"	"02508"	"GNPTAB_000103"	"g.102164851dup"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101771073dup"	""	"pathogenic"	""
"0000371900"	"0"	"99"	"12"	"102164817"	"102164817"	"dup"	"0"	"02508"	"GNPTAB_000104"	"g.102164817dup"	""	"{DOI:Wang et al. 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101771039dup"	""	"pathogenic"	""
"0000371901"	"0"	"99"	"12"	"102164793"	"102164793"	"dup"	"0"	"02508"	"GNPTAB_000105"	"g.102164793dup"	""	"{DOI:Otomo et al. 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101771015dup"	""	"pathogenic"	""
"0000371902"	"0"	"99"	"12"	"102164357"	"102164357"	"subst"	"0"	"02508"	"GNPTAB_000106"	"g.102164357G>A"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770579G>A"	""	"pathogenic"	""
"0000371903"	"0"	"99"	"12"	"102164305"	"102164305"	"subst"	"0"	"02508"	"GNPTAB_000107"	"g.102164305T>C"	""	"{DOI:Yang 2017:10.1186/s13023-016-0556-2}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770527T>C"	""	"pathogenic"	""
"0000371904"	"11"	"99"	"12"	"102164297"	"102164297"	"subst"	"8.12757E-6"	"02508"	"GNPTAB_000108"	"g.102164297G>A"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770519G>A"	""	"pathogenic"	""
"0000375693"	"0"	"99"	"12"	"102164296"	"102164296"	"subst"	"0"	"02508"	"GNPTAB_000109"	"g.102164296C>A"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770518C>A"	""	"pathogenic"	""
"0000375694"	"21"	"99"	"12"	"102164296"	"102164296"	"subst"	"8.12684E-6"	"02508"	"GNPTAB_000110"	"g.102164296C>T"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770518C>T"	""	"pathogenic"	""
"0000375695"	"0"	"99"	"12"	"102164296"	"102164296"	"subst"	"0"	"02508"	"GNPTAB_000111"	"g.102164296C>G"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770518C>G"	""	"pathogenic"	""
"0000375696"	"0"	"99"	"12"	"102164280"	"102164283"	"dup"	"0"	"02508"	"GNPTAB_000112"	"g.102164280_102164283dup"	""	"{DOI:Soden 2014:10.1126/scitranslmed.3010076}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770502_101770505dup"	""	"pathogenic"	""
"0000375697"	"0"	"99"	"12"	"102164276"	"102164278"	"del"	"0"	"02508"	"GNPTAB_000113"	"g.102164276_102164278del"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770498_101770500del"	""	"pathogenic"	""
"0000375698"	"0"	"99"	"12"	"102164276"	"102164276"	"del"	"0"	"02508"	"GNPTAB_000114"	"g.102164276del"	""	"{DOI:Otomo 2015:10.1083/jcb.201407077}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770498del"	""	"pathogenic"	""
"0000375699"	"0"	"99"	"12"	"102164255"	"102164255"	"subst"	"0.00290832"	"02508"	"GNPTAB_000115"	"g.102164255T>G"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770477T>G"	""	"pathogenic"	""
"0000375700"	"1"	"99"	"12"	"102164246"	"102164246"	"dup"	"0"	"02508"	"GNPTAB_000116"	"g.102164246dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770468dup"	""	"pathogenic"	""
"0000375701"	"2"	"99"	"12"	"102147250"	"102147251"	"del"	"0"	"02508"	"GNPTAB_000036"	"g.102147250_102147251del"	""	"{DOI:Bargal 2006:10.1016/j.ymgme.2006.03.003}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101753472_101753473del"	""	"pathogenic"	""
"0000375702"	"3"	"99"	"12"	"102164226"	"102164226"	"subst"	"0"	"02508"	"GNPTAB_000117"	"g.102164226C>T"	""	"{DOI:Yang 2013:10.1016/j.ygeno.2013.06.001}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770448C>T"	""	"pathogenic"	""
"0000375703"	"3"	"99"	"12"	"102164207"	"102164207"	"subst"	"1.21846E-5"	"02508"	"GNPTAB_000050"	"g.102164207G>A"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770429G>A"	""	"pathogenic"	""
"0000375704"	"0"	"99"	"12"	"102164286"	"102164365"	"del"	"0"	"02508"	"GNPTAB_000118"	"g.102164286_102164365del"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	"delEx9"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770508_101770587del"	""	"pathogenic"	""
"0000375705"	"0"	"99"	"12"	"102163933"	"102163935"	"dup"	"0"	"02508"	"GNPTAB_000119"	"g.102163933_102163935dup"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770155_101770157dup"	""	"pathogenic"	""
"0000375706"	"0"	"99"	"12"	"102163890"	"102163893"	"dup"	"0"	"02508"	"GNPTAB_000120"	"g.102163890_102163893dup"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770112_101770115dup"	""	"pathogenic"	""
"0000375707"	"0"	"99"	"12"	"102163963"	"102163963"	"subst"	"0"	"02508"	"GNPTAB_000121"	"g.102163963A>G"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770185A>G"	""	"pathogenic"	""
"0000378643"	"3"	"99"	"12"	"102163960"	"102163960"	"subst"	"3.65634E-5"	"02508"	"GNPTAB_000005"	"g.102163960G>A"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770182G>A"	""	"pathogenic"	""
"0000378648"	"0"	"99"	"12"	"102163939"	"102163939"	"subst"	"0"	"02508"	"GNPTAB_000122"	"g.102163939T>G"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770161T>G"	""	"pathogenic"	""
"0000378649"	"0"	"99"	"12"	"102163929"	"102163929"	"subst"	"0"	"02508"	"GNPTAB_000123"	"g.102163929G>A"	""	"{DOI:Ludwig 2017:10.1016/j.biocel.2017.09.006}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770151G>A"	""	"pathogenic"	""
"0000378650"	"0"	"99"	"12"	"102163905"	"102163905"	"subst"	"0"	"02508"	"GNPTAB_000124"	"g.102163905T>C"	""	"{DOI:Oussoren 2018:10.1007/s10545-018-0186-z}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770127T>C"	""	"pathogenic"	""
"0000378652"	"0"	"99"	"12"	"102163887"	"102163887"	"subst"	"1.62488E-5"	"02508"	"GNPTAB_000049"	"g.102163887G>A"	""	"{DOI:Bargal 2006:10.1016/j.ymgme.2006.03.003}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770109G>A"	""	"pathogenic"	""
"0000378653"	"0"	"99"	"12"	"102163879"	"102163879"	"dup"	"0"	"02508"	"GNPTAB_000125"	"g.102163879dup"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770101dup"	""	"pathogenic"	""
"0000378655"	"1"	"99"	"12"	"102163875"	"102163875"	"subst"	"4.0622E-6"	"02508"	"GNPTAB_000126"	"g.102163875A>G"	""	"{DOI:Encarnacao 2009:10.1111/j.1399-0004.2009.01185.x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770097A>G"	""	"pathogenic"	""
"0000378656"	"0"	"99"	"12"	"102163871"	"102163871"	"subst"	"0"	"02508"	"GNPTAB_000127"	"g.102163871G>C"	""	"{DOI:Liu 2016:10.1371/journal.pone.0163204}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770093G>C"	""	"pathogenic"	""
"0000378658"	"0"	"99"	"12"	"102163861"	"102163861"	"subst"	"0"	"02508"	"GNPTAB_000128"	"g.102163861C>T"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770083C>T"	""	"pathogenic"	""
"0000378659"	"0"	"99"	"12"	"102163836"	"102163836"	"subst"	"4.06266E-6"	"02508"	"GNPTAB_000129"	"g.102163836C>T"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770058C>T"	""	"pathogenic"	""
"0000378660"	"0"	"99"	"12"	"102161940"	"102161940"	"subst"	"0"	"02508"	"GNPTAB_000130"	"g.102161940T>C"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768162T>C"	""	"pathogenic"	""
"0000378661"	"0"	"99"	"12"	"102161898"	"102161898"	"subst"	"0"	"02508"	"GNPTAB_000131"	"g.102161898C>T"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768120C>T"	""	"pathogenic"	""
"0000378662"	"0"	"99"	"12"	"102161893"	"102161893"	"dup"	"0"	"02508"	"GNPTAB_000132"	"g.102161893dup"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768115dup"	""	"pathogenic"	""
"0000378663"	"0"	"99"	"12"	"102161842"	"102161842"	"subst"	"0"	"02508"	"GNPTAB_000133"	"g.102161842A>C"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768064A>C"	""	"pathogenic"	""
"0000378664"	"3"	"99"	"12"	"102163863"	"102163863"	"subst"	"0"	"02508"	"GNPTAB_000134"	"g.102163863T>G"	""	"{DOI:Tiede 2005:10.1002/ajmg.a.30868}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770085T>G"	""	"pathogenic"	""
"0000378666"	"0"	"99"	"12"	"102161886"	"102161886"	"subst"	"0"	"02508"	"GNPTAB_000135"	"g.102161886C>T"	""	"{DOI:Köhne 2015:10.1016/j.bbadis.2016.05.018}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768108C>T"	""	"pathogenic"	""
"0000378667"	"0"	"99"	"12"	"102161838"	"102161838"	"dup"	"0"	"02508"	"GNPTAB_000136"	"g.102161838dup"	""	"{DOI:Zarghooni & Dittakavi:10.1002/ajmg.a.33134}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768060dup"	""	"pathogenic"	""
"0000378668"	"0"	"99"	"12"	"102161834"	"102161834"	"subst"	"0"	"02508"	"GNPTAB_000137"	"g.102161834C>T"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768056C>T"	""	"pathogenic"	""
"0000378669"	"0"	"99"	"12"	"102161827"	"102161827"	"del"	"0"	"02508"	"GNPTAB_000138"	"g.102161827del"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768049del"	""	"pathogenic"	""
"0000378670"	"11"	"99"	"12"	"102161821"	"102161821"	"subst"	"0"	"02508"	"GNPTAB_000139"	"g.102161821A>T"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101768043A>T"	""	"pathogenic"	""
"0000378671"	"21"	"99"	"12"	"102159967"	"102159967"	"subst"	"1.6246E-5"	"02508"	"GNPTAB_000048"	"g.102159967C>T"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101766189C>T"	""	"pathogenic"	""
"0000378672"	"0"	"99"	"12"	"102159962"	"102159962"	"subst"	"0"	"02508"	"GNPTAB_000140"	"g.102159962G>A"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101766184G>A"	""	"pathogenic"	""
"0000378673"	"0"	"99"	"12"	"102159960"	"102159960"	"del"	"0"	"02508"	"GNPTAB_000141"	"g.102159960del"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101766182del"	""	"pathogenic"	""
"0000378674"	"0"	"99"	"12"	"102159914"	"102159914"	"subst"	"0"	"02508"	"GNPTAB_000142"	"g.102159914A>G"	""	"{DOI:Cobos 2014:10.1007/8904_2014_308}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101766136A>G"	""	"pathogenic"	""
"0000378675"	"21"	"99"	"12"	"102159901"	"102159901"	"del"	"0"	"02508"	"GNPTAB_000002"	"g.102159901del"	""	"{DOI:Kudo 2006: 10.1086/500849}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101766123del"	""	"pathogenic"	""
"0000378676"	"0"	"99"	"12"	"102159881"	"102159881"	"subst"	"8.1244E-6"	"02508"	"GNPTAB_000143"	"g.102159881C>T"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101766103C>T"	""	"pathogenic"	""
"0000378677"	"0"	"99"	"12"	"102159070"	"102159071"	"ins"	"0"	"02508"	"GNPTAB_000144"	"g.102159070_102159071insG"	""	"{DOI:Tiede 2005:10.1038/nm1305}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101765292_101765293insG"	""	"pathogenic"	""
"0000378678"	"11"	"99"	"12"	"102158994"	"102158994"	"del"	"0"	"02508"	"GNPTAB_000145"	"g.102158994del"	""	"{DOI:Aggarwal 2014:10.1016/j.gene.2014.03.053}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101765216del"	""	"pathogenic"	""
"0000378679"	"21"	"99"	"12"	"102158972"	"102158972"	"subst"	"0"	"02508"	"GNPTAB_000146"	"g.102158972C>T"	""	"{DOI:Sperb-Ludwig 2015:10.1016/j.ymgmr.2014.12.001}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101765194C>T"	""	"pathogenic"	""
"0000378680"	"21"	"99"	"12"	"102158957"	"102158958"	"ins"	"0"	"02508"	"GNPTAB_000147"	"g.102158957_102158958insTATATATA"	""	"{DOI:Kudo 2006: 10.1086/500849}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101765179_101765180insTATATATA"	""	"pathogenic"	""
"0000378681"	"0"	"99"	"12"	"102158936"	"102158936"	"subst"	"0"	"02508"	"GNPTAB_000148"	"g.102158936G>A"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101765158G>A"	""	"pathogenic"	""
"0000378682"	"0"	"99"	"12"	"102158932"	"102158932"	"dup"	"0"	"02508"	"GNPTAB_000149"	"g.102158932dup"	""	"{DOI:Ludwig 2017:10.1016/j.biocel.2017.09.006}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101765154dup"	""	"pathogenic"	""
"0000378683"	"21"	"99"	"12"	"102158935"	"102158935"	"subst"	"0"	"02508"	"GNPTAB_000150"	"g.102158935C>G"	""	"{DOI:Lam 2007:10.1016/j.cca.2006.09.004}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101765157C>G"	""	"pathogenic"	""
"0000378684"	"0"	"99"	"12"	"102158921"	"102158921"	"subst"	"9.74746E-5"	"02508"	"GNPTAB_000151"	"g.102158921C>T"	""	"{DOI:Fernández-Marmiesse 2014:10.1186/1750-1172-9-59}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101765143C>T"	""	"pathogenic"	""
"0000378685"	"0"	"99"	"12"	"102158787"	"102158790"	"del"	"4.0618E-6"	"02508"	"GNPTAB_000152"	"g.102158787_102158790del"	""	"{DOI:Wood 2017:10.1002/ccr3.835}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101765009_101765012del"	""	"pathogenic"	""
"0000378686"	"0"	"99"	"12"	"102158768"	"102158771"	"del"	"0"	"02508"	"GNPTAB_000153"	"g.102158768_102158771del"	""	"{DOI:Ludwig 2017:10.1016/j.biocel.2017.09.006}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764990_101764993del"	""	"pathogenic"	""
"0000378687"	"1"	"99"	"12"	"102158738"	"102158741"	"del"	"0"	"02508"	"GNPTAB_000154"	"g.102158738_102158741del"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764960_101764963del"	""	"pathogenic"	""
"0000378688"	"0"	"99"	"12"	"102158732"	"102158732"	"del"	"0"	"02508"	"GNPTAB_000155"	"g.102158732del"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764954del"	""	"pathogenic"	""
"0000378689"	"0"	"99"	"12"	"102158763"	"102158764"	"inv"	"0"	"02508"	"GNPTAB_000156"	"g.102158763_102158764inv"	""	"{DOI:Velho 2015:10.1093/hmg/ddv100}"	""	"c.1931_1932delCAinsTG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764985_101764986inv"	""	"pathogenic"	""
"0000378690"	"1"	"99"	"12"	"102158696"	"102158696"	"subst"	"0"	"02508"	"GNPTAB_000157"	"g.102158696C>A"	""	"{DOI:Encarnacao 2009:10.1111/j.1399-0004.2009.01185.x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764918C>A"	""	"pathogenic"	""
"0000378691"	"11"	"99"	"12"	"102158695"	"102158696"	"ins"	"0"	"02508"	"GNPTAB_000158"	"g.102158695_102158696insA"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764917_101764918insA"	""	"pathogenic"	""
"0000378692"	"0"	"99"	"12"	"102158641"	"102158645"	"del"	"0"	"02508"	"GNPTAB_000159"	"g.102158641_102158645del"	""	"{DOI:Kudo 2006: 10.1086/500849}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764863_101764867del"	""	"pathogenic"	""
"0000378695"	"0"	"99"	"12"	"102158622"	"102158623"	"ins"	"0"	"02508"	"GNPTAB_000160"	"g.102158622_102158623insC"	""	"{DOI:Retterer 2016:10.1038/gim.2015.148}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764844_101764845insC"	""	"pathogenic"	""
"0000378696"	"0"	"99"	"12"	"102158609"	"102158609"	"dup"	"0"	"02508"	"GNPTAB_000161"	"g.102158609dup"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764831dup"	""	"pathogenic"	""
"0000378697"	"21"	"99"	"12"	"102158507"	"102158507"	"del"	"0"	"02508"	"GNPTAB_000162"	"g.102158507delinsTTT"	""	"{DOI:Kudo 2006:10.1086/500849}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764729delinsTTT"	""	"pathogenic"	""
"0000378698"	"21"	"99"	"12"	"102158508"	"102158508"	"del"	"0"	"02508"	"GNPTAB_000163"	"g.102158508del"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764730del"	""	"pathogenic"	""
"0000378699"	"0"	"99"	"12"	"102158499"	"102158499"	"subst"	"0"	"02508"	"GNPTAB_000164"	"g.102158499C>A"	""	"{DOI:Zarghooni & Dittakavi 2009:10.1002/ajmg.a.33134}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764721C>A"	""	"pathogenic"	""
"0000378700"	"0"	"99"	"12"	"102158482"	"102158482"	"subst"	"4.07874E-6"	"02508"	"GNPTAB_000043"	"g.102158482G>T"	""	"{DOI:Köhne 2015:10.1016/j.bbadis.2016.05.018}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764704G>T"	""	"pathogenic"	""
"0000378701"	"0"	"99"	"12"	"102158474"	"102158475"	"dup"	"0"	"02508"	"GNPTAB_000165"	"g.102158474_102158475dup"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764696_101764697dup"	""	"pathogenic"	""
"0000378702"	"0"	"99"	"12"	"102158451"	"102158451"	"dup"	"0"	"02508"	"GNPTAB_000166"	"g.102158451dup"	""	"{DOI:Encarnacao 2009:10.1111/j.1399-0004.2009.01185.x}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764673dup"	""	"pathogenic"	""
"0000378703"	"1"	"99"	"12"	"102158422"	"102158426"	"del"	"0"	"02508"	"GNPTAB_000167"	"g.102158422_102158426del"	""	"{DOI:Cury 2013:10.1016/j.gene.2013.03.105}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764644_101764648del"	""	"pathogenic"	""
"0000378704"	"3"	"99"	"12"	"102158420"	"102158421"	"del"	"0"	"02508"	"GNPTAB_000168"	"g.102158420_102158421del"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764642_101764643del"	""	"pathogenic"	""
"0000378705"	"11"	"99"	"12"	"102158415"	"102158416"	"del"	"0"	"02508"	"GNPTAB_000169"	"g.102158415_102158416del"	""	"{DOI:Lam 2007:10.1016/j.cca.2006.09.004}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764637_101764638del"	""	"pathogenic"	""
"0000378706"	"0"	"99"	"12"	"102158350"	"102158350"	"subst"	"4.07315E-6"	"02508"	"GNPTAB_000170"	"g.102158350G>A"	""	"{DOI:Liu 2016:10.1371/journal.pone.0163204}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764572G>A"	""	"pathogenic"	""
"0000378707"	"0"	"99"	"12"	"102158341"	"102158341"	"subst"	"2.85316E-5"	"02508"	"GNPTAB_000171"	"g.102158341A>C"	""	"{DOI:Fernández-Marmiesse 2014:10.1186/1750-1172-9-59}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764563A>C"	""	"pathogenic"	""
"0000378708"	"0"	"99"	"12"	"102158339"	"102158339"	"subst"	"0"	"02508"	"GNPTAB_000172"	"g.102158339G>A"	""	"{DOI:Liu 2016:10.1371/journal.pone.0163204}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764561G>A"	""	"pathogenic"	""
"0000378709"	"0"	"99"	"12"	"102158291"	"102158291"	"subst"	"4.06898E-6"	"02508"	"GNPTAB_000173"	"g.102158291G>A"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764513G>A"	""	"pathogenic"	""
"0000378710"	"11"	"99"	"12"	"102158276"	"102158276"	"del"	"0"	"02508"	"GNPTAB_000174"	"g.102158276del"	""	"{DOI:Ma 2011:10.1002/ajmg.a.33834}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764498del"	""	"pathogenic"	""
"0000378711"	"0"	"99"	"12"	"102158268"	"102158268"	"del"	"0"	"02508"	"GNPTAB_000175"	"g.102158268del"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764490del"	""	"pathogenic"	""
"0000378712"	"0"	"99"	"12"	"102158240"	"102158240"	"subst"	"0"	"02508"	"GNPTAB_000176"	"g.102158240C>A"	""	"{DOI:Liu 2016:10.1371/journal.pone.0163204}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764462C>A"	""	"pathogenic"	""
"0000378713"	"0"	"99"	"12"	"102158227"	"102158227"	"dup"	"0"	"02508"	"GNPTAB_000177"	"g.102158227dup"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764449dup"	""	"pathogenic"	""
"0000378714"	"0"	"99"	"12"	"102158162"	"102158162"	"subst"	"0"	"02508"	"GNPTAB_000178"	"g.102158162G>A"	""	"{DOI:Tiede 2005:10.1038/nm1305}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764384G>A"	""	"pathogenic"	""
"0000378715"	"0"	"99"	"12"	"102158154"	"102158154"	"del"	"0"	"02508"	"GNPTAB_000179"	"g.102158154del"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764376del"	""	"pathogenic"	""
"0000378716"	"0"	"99"	"12"	"102158150"	"102158154"	"del"	"0"	"02508"	"GNPTAB_000180"	"g.102158150_102158154del"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764372_101764376del"	""	"pathogenic"	""
"0000378717"	"0"	"99"	"12"	"102158123"	"102158124"	"del"	"0"	"02508"	"GNPTAB_000181"	"g.102158123_102158124del"	""	"{DOI:Paik 2005:10.1002/humu.20205}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764345_101764346del"	""	"pathogenic"	""
"0000378718"	"0"	"99"	"12"	"102158103"	"102158104"	"ins"	"0"	"02508"	"GNPTAB_000182"	"g.102158103_102158104insC"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764325_101764326insC"	""	"pathogenic"	""
"0000378719"	"0"	"99"	"12"	"102158051"	"102158051"	"subst"	"0"	"02508"	"GNPTAB_000183"	"g.102158051G>A"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764273G>A"	""	"pathogenic"	""
"0000378720"	"1"	"99"	"12"	"102158036"	"102158036"	"dup"	"0"	"02508"	"GNPTAB_000184"	"g.102158036dup"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764258dup"	""	"pathogenic"	""
"0000378721"	"11"	"99"	"12"	"102158031"	"102158031"	"subst"	"0"	"02508"	"GNPTAB_000185"	"g.102158031G>C"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764253G>C"	""	"pathogenic"	""
"0000378722"	"0"	"99"	"12"	"102158029"	"102158029"	"subst"	"0"	"02508"	"GNPTAB_000186"	"g.102158029A>T"	""	"{DOI:Yang 2017:10.1186/s13023-016-0556-2}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764251A>T"	""	"pathogenic"	""
"0000378723"	"0"	"99"	"12"	"102158024"	"102158024"	"dup"	"0"	"02508"	"GNPTAB_000187"	"g.102158024dup"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764246dup"	""	"pathogenic"	""
"0000378724"	"0"	"99"	"12"	"102158014"	"102158014"	"subst"	"0"	"02508"	"GNPTAB_000188"	"g.102158014C>T"	""	"{DOI:Paik 2005:10.1002/humu.20205}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764236C>T"	""	"pathogenic"	""
"0000378725"	"0"	"99"	"12"	"102158009"	"102158009"	"del"	"0"	"02508"	"GNPTAB_000189"	"g.102158009del"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764231del"	""	"pathogenic"	""
"0000378726"	"21"	"99"	"12"	"102158009"	"102158009"	"dup"	"0"	"02508"	"GNPTAB_000190"	"g.102158009dup"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764231dup"	""	"pathogenic"	""
"0000378727"	"0"	"99"	"12"	"102158106"	"102158106"	"dup"	"0"	"02508"	"GNPTAB_000191"	"g.102158106dup"	""	"{DOI:Liu 2015:10.1371/journal.pone.0133636}"	""	"c.2590_2591insG"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764328dup"	""	"pathogenic"	""
"0000378728"	"0"	"99"	"12"	"102157979"	"102157979"	"subst"	"3.24958E-5"	"02508"	"GNPTAB_000041"	"g.102157979C>T"	""	"{DOI:Paik 2005:10.1002/humu.20205}"	""	""	"Skipping of exon 13."	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764201C>T"	""	"pathogenic"	""
"0000378729"	"11"	"99"	"12"	"102157978"	"102157978"	"subst"	"4.06412E-6"	"02508"	"GNPTAB_000059"	"g.102157978A>C"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764200A>C"	""	"pathogenic"	""
"0000378730"	"1"	"99"	"12"	"102155480"	"102155480"	"subst"	"0"	"02508"	"GNPTAB_000192"	"g.102155480T>G"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101761702T>G"	""	"pathogenic"	""
"0000378731"	"0"	"99"	"12"	"102155474"	"102155474"	"subst"	"0"	"02508"	"GNPTAB_000193"	"g.102155474T>C"	""	"{DOI:Zarghooni & Dittakavi 2009:10.1002/ajmg.a.33134}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761696T>C"	""	"pathogenic"	""
"0000378732"	"0"	"99"	"12"	"102155449"	"102155449"	"subst"	"0"	"02508"	"GNPTAB_000194"	"g.102155449T>C"	""	"{DOI:Cury 2013:10.1016/j.gene.2013.03.105}"	""	""	"This mutation alters the splicing."	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761671T>C"	""	"pathogenic"	""
"0000378733"	"0"	"99"	"12"	"102155439"	"102155439"	"dup"	"0"	"02508"	"GNPTAB_000195"	"g.102155439dup"	""	"{DOI:Liu 2016:10.1371/journal.pone.0163204}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761661dup"	""	"pathogenic"	""
"0000378734"	"0"	"99"	"12"	"102155393"	"102155393"	"subst"	"0"	"02508"	"GNPTAB_000196"	"g.102155393G>A"	""	"{DOI:Zarghooni & Dittakavi 2009:10.1002/ajmg.a.33134}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761615G>A"	""	"pathogenic"	""
"0000378735"	"0"	"99"	"12"	"102155391"	"102155391"	"subst"	"0"	"02508"	"GNPTAB_000197"	"g.102155391G>A"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761613G>A"	""	"pathogenic"	""
"0000378736"	"0"	"99"	"12"	"102155390"	"102155390"	"subst"	"0"	"02508"	"GNPTAB_000198"	"g.102155390T>C"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761612T>C"	""	"pathogenic"	""
"0000378737"	"0"	"99"	"12"	"102155353"	"102155353"	"subst"	"0.000329011"	"02508"	"GNPTAB_000199"	"g.102155353T>G"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761575T>G"	""	"pathogenic"	""
"0000378738"	"0"	"99"	"12"	"102155342"	"102155342"	"dup"	"0"	"02508"	"GNPTAB_000200"	"g.102155342dup"	""	"{DOI:Bargal 2006:10.1016/j.ymgme.2006.03.003}"	""	""	"Skipping of exon 15"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761564dup"	""	"pathogenic"	""
"0000378739"	"0"	"99"	"12"	"102155087"	"102155094"	"dup"	"0"	"02508"	"GNPTAB_000201"	"g.102155087_102155094dup"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761309_101761316dup"	""	"pathogenic"	""
"0000378740"	"3"	"99"	"12"	"102155084"	"102155084"	"subst"	"4.06481E-6"	"02508"	"GNPTAB_000202"	"g.102155084G>A"	""	"{DOI:Coutinho 2011:10.1002/ajmg.a.35295}"	""	"c.2956T>C"	""	"Germline"	""	""	"0"	""	""	"g.101761306G>A"	""	"pathogenic"	""
"0000392017"	"0"	"99"	"12"	"102155083"	"102155083"	"subst"	"4.06431E-6"	"02508"	"GNPTAB_000203"	"g.102155083C>T"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761305C>T"	""	"pathogenic"	""
"0000392018"	"0"	"99"	"12"	"102155058"	"102155061"	"del"	"0"	"02508"	"GNPTAB_000204"	"g.102155058_102155061del"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761280_101761283del"	""	"pathogenic"	""
"0000392019"	"0"	"99"	"12"	"102155050"	"102155050"	"subst"	"0"	"02508"	"GNPTAB_000205"	"g.102155050T>C"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761272T>C"	""	"pathogenic"	""
"0000392020"	"0"	"99"	"12"	"102155038"	"102155038"	"subst"	"4.06339E-6"	"02508"	"GNPTAB_000206"	"g.102155038A>G"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761260A>G"	""	"pathogenic"	""
"0000392021"	"3"	"99"	"12"	"102154987"	"102154987"	"subst"	"4.06296E-6"	"02508"	"GNPTAB_000207"	"g.102154987T>C"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101761209T>C"	""	"pathogenic"	""
"0000392022"	"0"	"99"	"12"	"102154987"	"102154987"	"subst"	"0"	"02508"	"GNPTAB_000208"	"g.102154987T>A"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761209T>A"	""	"pathogenic"	""
"0000392023"	"3"	"99"	"12"	"102154979"	"102154979"	"subst"	"0"	"02508"	"GNPTAB_000209"	"g.102154979G>A"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101761201G>A"	""	"pathogenic"	""
"0000392024"	"0"	"99"	"12"	"102154966"	"102154966"	"subst"	"0"	"02508"	"GNPTAB_000210"	"g.102154966A>G"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761188A>G"	""	"pathogenic"	""
"0000392025"	"11"	"99"	"12"	"102154949"	"102154949"	"subst"	"4.06279E-6"	"02508"	"GNPTAB_000039"	"g.102154949G>A"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101761171G>A"	""	"pathogenic"	""
"0000392026"	"0"	"99"	"12"	"102154947"	"102154947"	"del"	"0"	"02508"	"GNPTAB_000211"	"g.102154947del"	""	"{DOI:Wang 2018:10.1038/s41401-018-0023-9}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761169del"	""	"pathogenic"	""
"0000392027"	"0"	"99"	"12"	"102154942"	"102154942"	"subst"	"0"	"02508"	"GNPTAB_000212"	"g.102154942A>G"	""	"{DOI:Köhne 2015:10.1016/j.bbadis.2016.05.018}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761164A>G"	""	"pathogenic"	""
"0000392028"	"0"	"99"	"12"	"102153923"	"102153923"	"subst"	"0"	"02508"	"GNPTAB_000213"	"g.102153923T>C"	""	"{DOI:Liu 2016:10.1371/journal.pone.0163204}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101760145T>C"	""	"pathogenic"	""
"0000392029"	"0"	"99"	"12"	"102153912"	"102153913"	"ins"	"0"	"02508"	"GNPTAB_000214"	"g.102153912_102153913insG"	""	"{DOI:Tiede 2005:10.1038/nm1305}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101760134_101760135insG"	""	"pathogenic"	""
"0000392030"	"0"	"99"	"12"	"102153884"	"102153884"	"subst"	"0"	"02508"	"GNPTAB_000215"	"g.102153884G>C"	""	"{DOI:Paik 2005:10.1002/humu.20205}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101760106G>C"	""	"pathogenic"	""
"0000392031"	"21"	"99"	"12"	"102153824"	"102153827"	"dup"	"0"	"02508"	"GNPTAB_000216"	"g.102153824_102153827dup"	""	"{DOI:Kudo 2006:10.1086/500849}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101760046_101760049dup"	""	"pathogenic"	""
"0000392032"	"3"	"99"	"12"	"102153825"	"102153825"	"del"	"0"	"02508"	"GNPTAB_000217"	"g.102153825del"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101760047del"	""	"pathogenic"	""
"0000392033"	"0"	"99"	"12"	"102153807"	"102153807"	"subst"	"0"	"02508"	"GNPTAB_000218"	"g.102153807C>G"	""	"{DOI:Bargal 2006:10.1016/j.ymgme.2006.03.003}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101760029C>G"	""	"pathogenic"	""
"0000392034"	"3"	"99"	"12"	"102151437"	"102151437"	"subst"	"0"	"02508"	"GNPTAB_000219"	"g.102151437T>C"	""	"{DOI:Hashemi-Gorji 2016:10.1515/jpem-2016-0032}"	""	""	"Skipping exon 17."	"Germline"	""	""	"0"	""	""	"g.101757659T>C"	""	"pathogenic"	""
"0000392035"	"0"	"99"	"12"	"102151433"	"102151433"	"del"	"0"	"02508"	"GNPTAB_000220"	"g.102151433del"	""	"{DOI:Tiede 2005:10.1038/nm1305}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757655del"	""	"pathogenic"	""
"0000392036"	"0"	"99"	"12"	"102151375"	"102151375"	"del"	"0"	"02508"	"GNPTAB_000221"	"g.102151375del"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757597del"	""	"pathogenic"	""
"0000392037"	"21"	"99"	"12"	"102151357"	"102151357"	"dup"	"0"	"02508"	"GNPTAB_000222"	"g.102151357dup"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	"c.3327insA"	""	"Germline"	""	""	"0"	""	""	"g.101757579dup"	""	"pathogenic"	""
"0000392038"	"0"	"99"	"12"	"102151352"	"102151352"	"subst"	"0"	"02508"	"GNPTAB_000223"	"g.102151352A>C"	""	"{DOI:Ludwig 2017:10.1016/j.biocel.2017.09.006}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757574A>C"	""	"pathogenic"	""
"0000392043"	"0"	"99"	"12"	"102151349"	"102151349"	"subst"	"3.65845E-5"	"02508"	"GNPTAB_000224"	"g.102151349C>T"	""	"{DOI:Tiede 2005:10.1038/nm1305}"	""	"c.17+1G>A"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757571C>T"	""	"pathogenic"	""
"0000392044"	"0"	"99"	"12"	"102151344"	"102151344"	"subst"	"4.87892E-5"	"02508"	"GNPTAB_000225"	"g.102151344A>C"	""	"{DOI:Kudo 2006:10.1086/500849}"	""	""	"Skipped exon 17."	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757566A>C"	""	"pathogenic"	""
"0000392045"	"21"	"99"	"12"	"102151089"	"102151089"	"subst"	"0"	"02508"	"GNPTAB_000226"	"g.102151089C>G"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101757311C>G"	""	"pathogenic"	""
"0000392046"	"0"	"99"	"12"	"102151089"	"102151089"	"subst"	"0"	"02508"	"GNPTAB_000227"	"g.102151089C>T"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757311C>T"	""	"pathogenic"	""
"0000392047"	"0"	"99"	"12"	"102151032"	"102151035"	"del"	"0"	"02508"	"GNPTAB_000228"	"g.102151032_102151035delinsAAAAG"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	"c.3388_3389insC+c.3392C4T"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757254_101757257delinsAAAAG"	""	"pathogenic"	""
"0000392048"	"0"	"99"	"12"	"102153897"	"102153897"	"subst"	"0"	"02508"	"GNPTAB_000229"	"g.102153897G>C"	""	"{DOI:Zarghooni & Dittakavi 2009:10.1002/ajmg.a.33134}"	""	"c.3160T>G"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101760119G>C"	""	"pathogenic"	""
"0000392049"	"0"	"99"	"12"	"102151014"	"102151014"	"subst"	"2.03211E-5"	"02508"	"GNPTAB_000230"	"g.102151014A>T"	""	"{DOI:Cathey 2010:10.1136/jmg.2009.067736}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757236A>T"	""	"pathogenic"	""
"0000392050"	"0"	"99"	"12"	"102151001"	"102151001"	"dup"	"0"	"02508"	"GNPTAB_000231"	"g.102151001dup"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757223dup"	""	"pathogenic"	""
"0000392051"	"0"	"99"	"12"	"102150989"	"102150989"	"subst"	"0"	"02508"	"GNPTAB_000232"	"g.102150989C>T"	""	"{DOI:Bargal 2006:10.1016/j.ymgme.2006.03.003}"	""	""	"Skipped exon 18."	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757211C>T"	""	"pathogenic"	""
"0000392052"	"1"	"99"	"12"	"102147311"	"102147314"	"del"	"0"	"02508"	"GNPTAB_000233"	"g.102147311_102147314del"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101753533_101753536del"	""	"pathogenic"	""
"0000392053"	"21"	"99"	"12"	"102147293"	"102147296"	"dup"	"0"	"02508"	"GNPTAB_000234"	"g.102147293_102147296dup"	""	"{DOI:Heo 2012:10.3345/kjp.2012.55.11.438}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101753515_101753518dup"	""	"pathogenic"	""
"0000392054"	"0"	"99"	"12"	"102147294"	"102147294"	"subst"	"0"	"02508"	"GNPTAB_000235"	"g.102147294T>C"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753516T>C"	""	"pathogenic"	""
"0000392055"	"0"	"99"	"12"	"102147278"	"102147279"	"del"	"0"	"02508"	"GNPTAB_000236"	"g.102147278_102147279del"	""	"{DOI:Paik 2005:10.1002/humu.20205}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753500_101753501del"	""	"pathogenic"	""
"0000392056"	"0"	"99"	"12"	"102147265"	"102147268"	"del"	"0"	"02508"	"GNPTAB_000237"	"g.102147265_102147268del"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753487_101753490del"	""	"pathogenic"	""
"0000392058"	"0"	"99"	"12"	"102147226"	"102147232"	"del"	"0"	"02508"	"GNPTAB_000239"	"g.102147226_102147232del"	""	"{DOI:Tappino 2009:10.1002/humu.21099}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753448_101753454del"	""	"pathogenic"	""
"0000392059"	"0"	"99"	"12"	"102147187"	"102147187"	"subst"	"2.03084E-5"	"02508"	"GNPTAB_000240"	"g.102147187G>A"	""	"{DOI:Paik 2005:10.1002/humu.20205}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753409G>A"	""	"pathogenic"	""
"0000392060"	"0"	"99"	"12"	"102147186"	"102147187"	"ins"	"0"	"02508"	"GNPTAB_000241"	"g.102147186_102147187insT"	""	"{DOI:Tiede 2005:10.1038/nm1305}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753408_101753409insT"	""	"pathogenic"	""
"0000392061"	"0"	"99"	"12"	"102142970"	"102142970"	"subst"	"0"	"02508"	"GNPTAB_000242"	"g.102142970C>T"	""	"{DOI:Kudo 2006:10.1086/500849}"	""	""	"Skipped exon 20"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101749192C>T"	""	"pathogenic"	""
"0000392062"	"0"	"99"	"12"	"102147150"	"102147150"	"subst"	"0"	"02508"	"GNPTAB_000243"	"g.102147150C>T"	""	"{DOI:Mistri 2018:10.1016/j.ymgme.2017.12.252}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753372C>T"	""	"pathogenic"	""
"0000392063"	"0"	"99"	"12"	"102142959"	"102142959"	"subst"	"8.12902E-6"	"02508"	"GNPTAB_000244"	"g.102142959G>A"	""	"{DOI:Tiede 2005:10.1038/nm1305}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101749181G>A"	""	"pathogenic"	""
"0000392064"	"0"	"99"	"12"	"102142904"	"102142906"	"del"	"0"	"02508"	"GNPTAB_000245"	"g.102142904_102142906del"	""	"{DOI:Velho 2015:10.1093/hmg/ddv100}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101749126_101749128del"	""	"pathogenic"	""
"0000392065"	"0"	"99"	"12"	"102141006"	"102141006"	"subst"	"0"	"02508"	"GNPTAB_000246"	"g.102141006T>A"	""	"{DOI:Tiede 2006:10.1002/humu.9443}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101747228T>A"	""	"pathogenic"	""
"0000392066"	"0"	"99"	"12"	"102140971"	"102140974"	"del"	"0"	"02508"	"GNPTAB_000247"	"g.102140971_102140974del"	""	"{DOI:Otomo 2009:10.1038/jhg.2009.3}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101747193_101747196del"	""	"pathogenic"	""
"0000394362"	"0"	"99"	"12"	"102146807"	"102147703"	"del"	"0"	"02508"	"GNPTAB_000248"	"g.102146807_102147703del897"	""	"{DOI:Coutinho 2012:10.1002/ajmg.a.35295}"	""	""	"Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000394363"	"0"	"99"	"12"	"102224377"	"102224377"	"subst"	"0"	"02508"	"GNPTAB_000249"	"g.102224377C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101830599C>T"	""	"pathogenic"	""
"0000394384"	"0"	"99"	"12"	"102224374"	"102224374"	"subst"	"0"	"02508"	"GNPTAB_000250"	"g.102224374A>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101830596A>T"	""	"pathogenic"	""
"0000394385"	"0"	"99"	"12"	"102224347"	"102224347"	"subst"	"0"	"02508"	"GNPTAB_000251"	"g.102224347T>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101830569T>G"	""	"pathogenic"	""
"0000394386"	"0"	"99"	"12"	"102183789"	"102183789"	"dup"	"0"	"02508"	"GNPTAB_000252"	"g.102183789dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101790011dup"	""	"pathogenic"	""
"0000394387"	"0"	"99"	"12"	"102182366"	"102182366"	"subst"	"8.1406E-6"	"02508"	"GNPTAB_000253"	"g.102182366C>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101788588C>A"	""	"pathogenic"	""
"0000394389"	"0"	"99"	"12"	"102179984"	"102179987"	"del"	"0"	"02508"	"GNPTAB_000254"	"g.102179984_102179987del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101786206_101786209del"	""	"pathogenic"	""
"0000394390"	"0"	"99"	"12"	"102179984"	"102179984"	"subst"	"2.4569E-5"	"02508"	"GNPTAB_000255"	"g.102179984A>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101786206A>T"	""	"pathogenic"	""
"0000394391"	"0"	"99"	"12"	"102174358"	"102174358"	"subst"	"0"	"02508"	"GNPTAB_000256"	"g.102174358G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101780580G>A"	""	"pathogenic"	""
"0000394392"	"0"	"99"	"12"	"102164306"	"102164306"	"del"	"0"	"02508"	"GNPTAB_000257"	"g.102164306del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770528del"	""	"pathogenic"	""
"0000394393"	"0"	"99"	"12"	"102164281"	"102164281"	"dup"	"0"	"02508"	"GNPTAB_000258"	"g.102164281dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770503dup"	""	"pathogenic"	""
"0000394394"	"0"	"99"	"12"	"102164267"	"102164267"	"subst"	"8.12447E-6"	"02508"	"GNPTAB_000259"	"g.102164267G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770489G>A"	""	"pathogenic"	""
"0000394395"	"0"	"99"	"12"	"102164186"	"102164186"	"subst"	"0"	"02508"	"GNPTAB_000260"	"g.102164186G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770408G>A"	""	"pathogenic"	""
"0000394396"	"0"	"99"	"12"	"102161842"	"102161842"	"subst"	"0"	"02508"	"GNPTAB_000261"	"g.102161842A>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768064A>G"	""	"pathogenic"	""
"0000394397"	"0"	"99"	"12"	"102159934"	"102159934"	"subst"	"0"	"02508"	"GNPTAB_000262"	"g.102159934T>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101766156T>C"	""	"pathogenic"	""
"0000394398"	"0"	"99"	"12"	"102159898"	"102159898"	"subst"	"0"	"02508"	"GNPTAB_000263"	"g.102159898C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101766120C>T"	""	"pathogenic"	""
"0000394399"	"0"	"99"	"12"	"102159872"	"102159872"	"subst"	"0"	"02508"	"GNPTAB_000264"	"g.102159872G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101766094G>A"	""	"pathogenic"	""
"0000394400"	"0"	"99"	"12"	"102159004"	"102159004"	"subst"	"0"	"02508"	"GNPTAB_000265"	"g.102159004G>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101765226G>C"	""	"pathogenic"	""
"0000394401"	"0"	"99"	"12"	"102158916"	"102158916"	"del"	"0"	"02508"	"GNPTAB_000266"	"g.102158916del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101765138del"	""	"pathogenic"	""
"0000394402"	"0"	"99"	"12"	"102158910"	"102158910"	"subst"	"0"	"02508"	"GNPTAB_000267"	"g.102158910C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101765132C>T"	""	"pathogenic"	""
"0000394403"	"0"	"99"	"12"	"102158790"	"102158790"	"dup"	"0"	"02508"	"GNPTAB_000268"	"g.102158790dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101765012dup"	""	"pathogenic"	""
"0000394404"	"0"	"99"	"12"	"102158752"	"102158752"	"subst"	"0"	"02508"	"GNPTAB_000031"	"g.102158752C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764974C>T"	""	"pathogenic"	""
"0000394405"	"0"	"99"	"12"	"102158749"	"102158749"	"dup"	"0"	"02508"	"GNPTAB_000269"	"g.102158749dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764971dup"	""	"pathogenic"	""
"0000394406"	"0"	"99"	"12"	"102158748"	"102158748"	"subst"	"0"	"02508"	"GNPTAB_000270"	"g.102158748G>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764970G>T"	""	"pathogenic"	""
"0000394407"	"0"	"99"	"12"	"102158521"	"102158521"	"subst"	"0"	"02508"	"GNPTAB_000271"	"g.102158521A>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764743A>T"	""	"pathogenic"	""
"0000394408"	"0"	"99"	"12"	"102158444"	"102158447"	"del"	"0"	"02508"	"GNPTAB_000272"	"g.102158444_102158447del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764666_101764669del"	""	"pathogenic"	""
"0000394409"	"0"	"99"	"12"	"102158399"	"102158399"	"subst"	"0"	"02508"	"GNPTAB_000273"	"g.102158399G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764621G>A"	""	"pathogenic"	""
"0000394410"	"0"	"99"	"12"	"102158249"	"102158251"	"dup"	"0"	"02508"	"GNPTAB_000274"	"g.102158249_102158251dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764471_101764473dup"	""	"pathogenic"	""
"0000394411"	"0"	"99"	"12"	"102157994"	"102157994"	"subst"	"0"	"02508"	"GNPTAB_000042"	"g.102157994G>A"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101764216G>A"	""	"pathogenic"	""
"0000394412"	"3"	"99"	"12"	"102155403"	"102155403"	"subst"	"0"	"02508"	"GNPTAB_000275"	"g.102155403T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101761625T>A"	""	"pathogenic"	""
"0000394413"	"0"	"99"	"12"	"102155068"	"102155068"	"subst"	"0"	"02508"	"GNPTAB_000276"	"g.102155068A>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761290A>C"	""	"pathogenic"	""
"0000394414"	"0"	"99"	"12"	"102151005"	"102151006"	"del"	"0"	"02508"	"GNPTAB_000277"	"g.102151005_102151006del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757227_101757228del"	""	"pathogenic"	""
"0000394415"	"20"	"99"	"12"	"102147295"	"102147297"	"del"	"0"	"02508"	"GNPTAB_000278"	"g.102147295_102147297del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101753517_101753519del"	""	"pathogenic"	""
"0000394416"	"11"	"99"	"12"	"102147188"	"102147188"	"subst"	"0"	"02508"	"GNPTAB_000279"	"g.102147188A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101753410A>T"	""	"pathogenic"	""
"0000394417"	"0"	"99"	"12"	"102140995"	"102140995"	"del"	"0"	"02508"	"GNPTAB_000280"	"g.102140995del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101747217del"	""	"pathogenic"	""
"0000394418"	"0"	"99"	"12"	"102161951"	"102161951"	"subst"	"0"	"02508"	"GNPTAB_000281"	"g.102161951C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768173C>T"	""	"pathogenic"	""
"0000394420"	"0"	"99"	"12"	"102155133"	"102155133"	"subst"	"0"	"02508"	"GNPTAB_000282"	"g.102155133A>C"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761355A>C"	""	"pathogenic"	""
"0000394421"	"0"	"99"	"12"	"102151336"	"102151336"	"subst"	"0.0005492"	"02508"	"GNPTAB_000283"	"g.102151336C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757558C>T"	""	"pathogenic"	""
"0000394424"	"0"	"99"	"12"	"102179805"	"102179806"	"ins"	"0"	"02508"	"GNPTAB_000284"	"g.102179805_102179806ins[U14569.1:g.1_288]"	""	"{DOI:Tappino 2008:10.1016/j.ymgme.2007.09.010}"	""	"Alu insertion mutation"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000404765"	"2"	"77"	"12"	"102224384"	"102224384"	"subst"	"0.00032045"	"02508"	"GNPTAB_000009"	"g.102224384A>C"	""	""	""	""	"Found in cis with the c.1000C>T."	"Germline"	""	""	"0"	""	""	"g.101830606A>C"	""	"likely pathogenic"	""
"0000404766"	"2"	"99"	"12"	"102183715"	"102183715"	"subst"	"0"	"02508"	"GNPTAB_000285"	"g.102183715C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101789937C>T"	""	"pathogenic"	""
"0000404767"	"1"	"99"	"12"	"102224371"	"102224371"	"subst"	"0"	"02508"	"GNPTAB_000286"	"g.102224371A>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101830593A>T"	""	"pathogenic"	""
"0000404768"	"1"	"99"	"12"	"102155084"	"102155084"	"subst"	"0"	"02508"	"GNPTAB_000287"	"g.102155084G>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101761306G>C"	""	"pathogenic"	""
"0000404769"	"1"	"99"	"12"	"102183797"	"102183797"	"del"	"0"	"02508"	"GNPTAB_000288"	"g.102183797del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101790019del"	""	"pathogenic"	""
"0000404770"	"3"	"99"	"12"	"102142882"	"102142972"	"del"	"0"	"02508"	"GNPTAB_000289"	"g.102142882_102142972del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101749104_101749194del"	""	"pathogenic"	""
"0000405685"	"3"	"99"	"12"	"102161910"	"102161911"	"del"	"0"	"02508"	"GNPTAB_000290"	"g.102161910_102161911del"	""	"{DOI:Edmiston 2018:10.1007/8904_2018_130}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101768132_101768133del"	""	"pathogenic"	""
"0000405697"	"3"	"97"	"12"	"102179790"	"102179790"	"subst"	"4.07359E-6"	"02508"	"GNPTAB_000291"	"g.102179790C>T"	"Not detected in 100 control chromosomes"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101786012C>T"	""	"pathogenic"	""
"0000405884"	"0"	"99"	"12"	"102163918"	"102163918"	"subst"	"0"	"02508"	"GNPTAB_000292"	"g.102163918C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770140C>T"	""	"pathogenic"	""
"0000405885"	"0"	"99"	"12"	"102163861"	"102163861"	"subst"	"0"	"02508"	"GNPTAB_000128"	"g.102163861C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101770083C>T"	""	"pathogenic"	""
"0000410669"	"0"	"97"	"12"	"102224453"	"102224453"	"subst"	"0"	"02508"	"GNPTAB_000293"	"g.102224453T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101830675T>C"	""	"pathogenic"	""
"0000410670"	"0"	"99"	"12"	"102179848"	"102179848"	"dup"	"0"	"02508"	"GNPTAB_000294"	"g.102179848dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101786070dup"	""	"pathogenic"	""
"0000410672"	"0"	"99"	"12"	"102164831"	"102164831"	"dup"	"0"	"02508"	"GNPTAB_000295"	"g.102164831dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.101771053dup"	""	"pathogenic"	""
"0000410673"	"0"	"97"	"12"	"102161859"	"102161859"	"subst"	"0"	"02508"	"GNPTAB_000296"	"g.102161859G>A"	""	"Jin et al. not published"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101768081G>A"	""	"pathogenic"	""
"0000414018"	"0"	"99"	"12"	"102155000"	"102155000"	"dup"	"0"	"02508"	"GNPTAB_000297"	"g.102155000dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101761222dup"	""	"pathogenic"	""
"0000414019"	"0"	"99"	"12"	"102153908"	"102153908"	"del"	"0"	"02508"	"GNPTAB_000298"	"g.102153908del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101760130del"	""	"pathogenic"	""
"0000414020"	"0"	"99"	"12"	"102153889"	"102153899"	"del"	"0"	"02508"	"GNPTAB_000299"	"g.102153889_102153899del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101760111_101760121del"	""	"pathogenic"	""
"0000414021"	"0"	"99"	"12"	"102153841"	"102153841"	"dup"	"0"	"02508"	"GNPTAB_000300"	"g.102153841dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101760063dup"	""	"pathogenic"	""
"0000414022"	"0"	"97"	"12"	"102151010"	"102151012"	"dup"	"0"	"02508"	"GNPTAB_000301"	"g.102151010_102151012dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101757232_101757234dup"	""	"pathogenic"	""
"0000414023"	"0"	"99"	"12"	"102147266"	"102147267"	"dup"	"0"	"02508"	"GNPTAB_000302"	"g.102147266_102147267dup"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753488_101753489dup"	""	"pathogenic"	""
"0000414024"	"0"	"99"	"12"	"102147220"	"102147220"	"del"	"0"	"02508"	"GNPTAB_000303"	"g.102147220del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753442del"	""	"pathogenic"	""
"0000414025"	"0"	"99"	"12"	"102147195"	"102147196"	"del"	"0"	"02508"	"GNPTAB_000304"	"g.102147195_102147196del"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101753417_101753418del"	""	"pathogenic"	""
"0000454347"	"0"	"99"	"12"	"102142909"	"102142909"	"del"	"0"	"02508"	"GNPTAB_000305"	"g.102142909del"	""	"{DOI:Lin & Pitukcheewanont 2012:10.1515/jpem-2011-0429}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.101749131del"	""	"pathogenic"	""
"0000546198"	"0"	"30"	"12"	"102142917"	"102142917"	"subst"	"4.06329E-6"	"01943"	"GNPTAB_000306"	"g.102142917A>G"	""	""	""	"GNPTAB(NM_024312.4):c.3655T>C (p.L1219=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101749139A>G"	""	"likely benign"	""
"0000546200"	"0"	"50"	"12"	"102147154"	"102147154"	"subst"	"0.00325781"	"01943"	"GNPTAB_000019"	"g.102147154C>T"	""	""	""	"GNPTAB(NM_024312.4):c.3598G>A (p.E1200K, p.(Glu1200Lys)), GNPTAB(NM_024312.5):c.3598G>A (p.E1200K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101753376C>T"	""	"VUS"	""
"0000546201"	"0"	"30"	"12"	"102147154"	"102147154"	"subst"	"0.00325781"	"02325"	"GNPTAB_000019"	"g.102147154C>T"	""	""	""	"GNPTAB(NM_024312.4):c.3598G>A (p.E1200K, p.(Glu1200Lys)), GNPTAB(NM_024312.5):c.3598G>A (p.E1200K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101753376C>T"	""	"likely benign"	""
"0000546202"	"0"	"70"	"12"	"102147250"	"102147251"	"del"	"0"	"02327"	"GNPTAB_000001"	"g.102147250_102147251del"	""	""	""	"GNPTAB(NM_024312.4):c.3503_3504delTC (p.L1168Qfs*5), GNPTAB(NM_024312.5):c.3503_3504delTC (p.L1168Qfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101753472_101753473del"	""	"likely pathogenic"	""
"0000546203"	"0"	"10"	"12"	"102154070"	"102154071"	"ins"	"0"	"01943"	"GNPTAB_000307"	"g.102154070_102154071insCT"	""	""	""	"GNPTAB(NM_024312.4):c.3136-150_3136-149insAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101760292_101760293insCT"	""	"benign"	""
"0000546204"	"0"	"50"	"12"	"102155357"	"102155357"	"subst"	"4.06174E-5"	"01804"	"GNPTAB_000022"	"g.102155357T>C"	""	""	""	"GNPTAB(NM_024312.5):c.2900A>G (p.(Gln967Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101761579T>C"	""	"VUS"	""
"0000546205"	"0"	"90"	"12"	"102155437"	"102155443"	"del"	"0"	"01943"	"GNPTAB_000308"	"g.102155437_102155443del"	""	""	""	"GNPTAB(NM_024312.4):c.2815_2821delAATAAAA (p.N939Ffs*2)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101761659_101761665del"	""	"pathogenic"	""
"0000546208"	"0"	"30"	"12"	"102158764"	"102158764"	"subst"	"0.0135396"	"01804"	"GNPTAB_000046"	"g.102158764G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1931C>T (p.(Thr644Ile)), GNPTAB(NM_024312.5):c.1931C>T (p.T644I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101764986G>A"	""	"likely benign"	""
"0000546209"	"0"	"30"	"12"	"102158969"	"102158969"	"subst"	"0"	"01804"	"GNPTAB_000311"	"g.102158969C>T"	""	""	""	"GNPTAB(NM_024312.4):c.1726G>A (p.(Val576Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101765191C>T"	""	"likely benign"	""
"0000546210"	"0"	"10"	"12"	"102159069"	"102159069"	"subst"	"0.000962733"	"01943"	"GNPTAB_000312"	"g.102159069T>C"	""	""	""	"GNPTAB(NM_024312.4):c.1626A>G (p.E542=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101765291T>C"	""	"benign"	""
"0000546211"	"0"	"30"	"12"	"102163814"	"102163814"	"subst"	"6.90905E-5"	"01943"	"GNPTAB_000313"	"g.102163814G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1269C>T (p.H423=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101770036G>A"	""	"likely benign"	""
"0000546213"	"0"	"30"	"12"	"102164769"	"102164769"	"subst"	"6.50084E-5"	"01804"	"GNPTAB_000315"	"g.102164769C>T"	""	""	""	"GNPTAB(NM_024312.4):c.933+5G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101770991C>T"	""	"likely benign"	""
"0000546214"	"0"	"30"	"12"	"102164865"	"102164865"	"subst"	"4.06177E-6"	"02326"	"GNPTAB_000316"	"g.102164865T>C"	""	""	""	"GNPTAB(NM_024312.5):c.842A>G (p.N281S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101771087T>C"	""	"likely benign"	""
"0000546216"	"0"	"30"	"12"	"102190521"	"102190521"	"subst"	"0.0040315"	"01804"	"GNPTAB_000008"	"g.102190521C>T"	""	""	""	"GNPTAB(NM_024312.4):c.137G>A (p.R46Q, p.(Arg46Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101796743C>T"	""	"likely benign"	""
"0000613799"	"0"	"30"	"12"	"102155509"	"102155509"	"subst"	"9.75094E-5"	"02327"	"GNPTAB_000317"	"g.102155509G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101761731G>A"	""	"likely benign"	""
"0000613800"	"0"	"50"	"12"	"102158735"	"102158735"	"subst"	"0.00010155"	"02327"	"GNPTAB_000318"	"g.102158735T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101764957T>C"	""	"VUS"	""
"0000613801"	"0"	"30"	"12"	"102164841"	"102164841"	"subst"	"1.21843E-5"	"01804"	"GNPTAB_000319"	"g.102164841G>C"	""	""	""	"GNPTAB(NM_024312.4):c.866C>G (p.(Thr289Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101771063G>C"	""	"likely benign"	""
"0000613802"	"0"	"50"	"12"	"102182336"	"102182336"	"subst"	"0"	"02327"	"GNPTAB_000320"	"g.102182336T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.101788558T>C"	""	"VUS"	""
"0000648428"	"1"	"90"	"12"	"102147250"	"102147251"	"del"	"0"	"03575"	"GNPTAB_000036"	"g.102147250_102147251del"	"5/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"5 heterozygous, no homozygous; {DB:CLININrs34002892}"	"Germline"	""	"rs34002892"	"0"	""	""	"g.101753472_101753473del"	""	"pathogenic"	""
"0000679378"	"0"	"50"	"12"	"102158877"	"102158877"	"subst"	"4.46828E-5"	"01943"	"GNPTAB_000321"	"g.102158877C>T"	""	""	""	"GNPTAB(NM_024312.4):c.1818G>A (p.M606I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000723787"	"0"	"30"	"12"	"102158082"	"102158082"	"subst"	"2.84444E-5"	"01943"	"GNPTAB_000324"	"g.102158082G>A"	""	""	""	"GNPTAB(NM_024312.4):c.2613C>T (p.G871=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723788"	"0"	"30"	"12"	"102160048"	"102160048"	"subst"	"0.000715546"	"01943"	"GNPTAB_000025"	"g.102160048A>G"	""	""	""	"GNPTAB(NM_024312.4):c.1433T>C (p.I478T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723789"	"0"	"30"	"12"	"102173923"	"102173923"	"subst"	"9.75657E-5"	"01804"	"GNPTAB_000325"	"g.102173923T>G"	""	""	""	"GNPTAB(NM_024312.4):c.771+7A>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723790"	"0"	"30"	"12"	"102174362"	"102174362"	"subst"	"2.84599E-5"	"01804"	"GNPTAB_000326"	"g.102174362G>C"	""	""	""	"GNPTAB(NM_024312.4):c.609C>G (p.(Ser203Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000723791"	"0"	"90"	"12"	"102182369"	"102182369"	"subst"	"0"	"01943"	"GNPTAB_000327"	"g.102182369T>C"	""	""	""	"GNPTAB(NM_024312.4):c.324-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000729965"	"3"	"90"	"12"	"102147250"	"102147251"	"del"	"0"	"00000"	"GNPTAB_000001"	"g.102147250_102147251del"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_024312.4:c.3503_3504del:p.(Leu1168Glnfs*5)"	""	"Germline"	""	""	"0"	""	""	"g.101753472_101753473del"	""	"pathogenic (recessive)"	""
"0000729966"	"3"	"90"	"12"	"102142919"	"102142919"	"del"	"0"	"00000"	"GNPTAB_000322"	"g.102142919del"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_024312.4:c.3653del:(p.Thr1218Asnfs*2)"	""	"Germline"	""	""	"0"	""	""	"g.101749141del"	""	"likely pathogenic (recessive)"	""
"0000730504"	"21"	"99"	"12"	"102155499"	"102155500"	"del"	"0"	"04002"	"GNPTAB_000323"	"g.102155499_102155500del"	""	"Di Lorenzo et al. 2021 submitted"	""	""	""	"Somatic"	"yes"	""	"0"	""	""	"g.102155499_102155500del"	""	"pathogenic"	"other"
"0000805491"	"0"	"30"	"12"	"102153860"	"102153860"	"subst"	"0.00177492"	"01804"	"GNPTAB_000328"	"g.102153860G>A"	""	""	""	"GNPTAB(NM_024312.4):c.3197C>T (p.(Thr1066Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805492"	"0"	"90"	"12"	"102157979"	"102157979"	"subst"	"3.24958E-5"	"01804"	"GNPTAB_000041"	"g.102157979C>T"	""	""	""	"GNPTAB(NM_024312.4):c.2715+1G>A (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000805493"	"0"	"30"	"12"	"102159085"	"102159085"	"subst"	"4.1352E-6"	"01943"	"GNPTAB_000329"	"g.102159085A>G"	""	""	""	"GNPTAB(NM_024312.4):c.1613-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805494"	"0"	"50"	"12"	"102163914"	"102163914"	"subst"	"0"	"01804"	"GNPTAB_000330"	"g.102163914C>T"	""	""	""	"GNPTAB(NM_024312.4):c.1169G>A (p.(Ser390Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805495"	"0"	"30"	"12"	"102164255"	"102164255"	"subst"	"0.00290832"	"01804"	"GNPTAB_000115"	"g.102164255T>G"	""	""	""	"GNPTAB(NM_024312.4):c.1042A>C (p.(Ile348Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853228"	"0"	"50"	"12"	"102224342"	"102224342"	"subst"	"0"	"01804"	"GNPTAB_000334"	"g.102224342C>G"	""	""	""	"GNPTAB(NM_024312.4):c.112G>C (p.(Gly38Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000862759"	"0"	"30"	"12"	"102142972"	"102142972"	"subst"	"0"	"01943"	"GNPTAB_000331"	"g.102142972G>A"	""	""	""	"GNPTAB(NM_024312.4):c.3603-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862760"	"0"	"30"	"12"	"102147154"	"102147154"	"subst"	"0.00325781"	"01804"	"GNPTAB_000019"	"g.102147154C>T"	""	""	""	"GNPTAB(NM_024312.4):c.3598G>A (p.E1200K, p.(Glu1200Lys)), GNPTAB(NM_024312.5):c.3598G>A (p.E1200K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862761"	"0"	"30"	"12"	"102158438"	"102158438"	"subst"	"4.10001E-6"	"01804"	"GNPTAB_000332"	"g.102158438T>A"	""	""	""	"GNPTAB(NM_024312.4):c.2257A>T (p.(Ile753Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862762"	"0"	"50"	"12"	"102164245"	"102164245"	"subst"	"4.87432E-5"	"01804"	"GNPTAB_000333"	"g.102164245T>C"	""	""	""	"GNPTAB(NM_024312.4):c.1052A>G (p.(Asn351Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000881291"	"21"	"70"	"12"	"102179792"	"102179792"	"subst"	"4.06742E-6"	"02300"	"GNPTAB_000087"	"g.102179792T>A"	""	"{PMID:Marinakis 2021:34008892}"	""	""	"ACMG PM2, PP2, PP3, PP4, PP5"	"Germline"	""	""	"0"	""	""	"g.101786014T>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000881364"	"11"	"90"	"12"	"102155390"	"102155391"	"del"	"0"	"02300"	"GNPTAB_000335"	"g.102155390_102155391del"	""	"{PMID:Marinakis 2021:34008892}"	""	"c.2868_2869delCA"	"ACMG PVS1, PM2, PP3, PP4"	"Germline"	""	""	"0"	""	""	"g.101761612_101761613del"	""	"pathogenic (recessive)"	"ACMG"
"0000913730"	"0"	"10"	"12"	"102159999"	"102159999"	"subst"	"0.00349295"	"02325"	"GNPTAB_000336"	"g.102159999C>T"	""	""	""	"GNPTAB(NM_024312.5):c.1482G>A (p.Q494=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000949822"	"0"	"50"	"12"	"102179849"	"102179849"	"subst"	"2.43904E-5"	"01804"	"GNPTAB_000337"	"g.102179849G>A"	""	""	""	"GNPTAB(NM_024312.4):c.512C>T (p.(Ala171Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000979963"	"0"	"30"	"12"	"102147140"	"102147140"	"subst"	"8.12803E-6"	"01804"	"GNPTAB_000338"	"g.102147140G>A"	""	""	""	"GNPTAB(NM_024312.5):c.3602+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000979964"	"0"	"90"	"12"	"102163960"	"102163960"	"subst"	"3.65634E-5"	"02329"	"GNPTAB_000005"	"g.102163960G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1123C>T (p.R375*), GNPTAB(NM_024312.5):c.1123C>T (p.R375*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000999564"	"0"	"50"	"12"	"102179848"	"102179848"	"dup"	"0"	"01804"	"GNPTAB_000294"	"g.102179848dup"	""	""	""	"GNPTAB(NM_024312.4):c.516dupA (p.(Pro173fs))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001012399"	"1"	"90"	"12"	"102158341"	"102158341"	"subst"	"2.85316E-5"	"00006"	"GNPTAB_000171"	"g.102158341A>C"	""	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101764563A>C"	""	"pathogenic (recessive)"	""
"0001012403"	"3"	"90"	"12"	"102140971"	"102140974"	"del"	"0"	"00006"	"GNPTAB_000247"	"g.102140971_102140974del"	""	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	"3739_3742delCTTT"	""	"Germline"	""	""	"0"	""	""	"g.101747193_101747196del"	""	"pathogenic (recessive)"	""
"0001012439"	"2"	"90"	"12"	"102158921"	"102158921"	"subst"	"9.74746E-5"	"00006"	"GNPTAB_000151"	"g.102158921C>T"	""	"{PMID:Fernandez-Marmiesse 2014:24767253}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101765143C>T"	""	"pathogenic (recessive)"	""
"0001012483"	"3"	"90"	"12"	"102174359"	"102174362"	"del"	"0"	"00006"	"GNPTAB_000090"	"g.102174359_102174362del"	""	"{PMID:Cobos 2015:24798265}"	""	"616_619delACAG"	""	"Germline"	""	""	"0"	""	""	"g.101780581_101780584del"	""	"pathogenic (recessive)"	""
"0001012484"	"3"	"90"	"12"	"102190522"	"102190522"	"subst"	"8.13643E-6"	"00006"	"GNPTAB_000071"	"g.102190522G>A"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101796744G>A"	""	"pathogenic (recessive)"	""
"0001012485"	"3"	"90"	"12"	"102164872"	"102164872"	"subst"	"0"	"00006"	"GNPTAB_000101"	"g.102164872C>A"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101771094C>A"	""	"pathogenic (recessive)"	""
"0001012486"	"3"	"90"	"12"	"102155084"	"102155084"	"subst"	"4.06481E-6"	"00006"	"GNPTAB_000202"	"g.102155084G>A"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101761306G>A"	""	"pathogenic (recessive)"	""
"0001012487"	"3"	"90"	"12"	"102159914"	"102159914"	"subst"	"0"	"00006"	"GNPTAB_000142"	"g.102159914A>G"	""	"{PMID:Cobos 2015:24798265}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101766136A>G"	""	"pathogenic (recessive)"	""
"0001014890"	"0"	"90"	"12"	"102147250"	"102147251"	"del"	"0"	"02325"	"GNPTAB_000001"	"g.102147250_102147251del"	""	""	""	"GNPTAB(NM_024312.4):c.3503_3504delTC (p.L1168Qfs*5), GNPTAB(NM_024312.5):c.3503_3504delTC (p.L1168Qfs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001014891"	"0"	"90"	"12"	"102164207"	"102164207"	"subst"	"1.21846E-5"	"02325"	"GNPTAB_000050"	"g.102164207G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1090C>T (p.R364*), GNPTAB(NM_024312.5):c.1090C>T (p.R364*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001038874"	"0"	"50"	"12"	"102141013"	"102141013"	"subst"	"4.06779E-5"	"01804"	"GNPTAB_000339"	"g.102141013C>T"	""	""	""	"GNPTAB(NM_024312.5):c.3700G>A (p.(Ala1234Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038875"	"0"	"50"	"12"	"102151036"	"102151036"	"subst"	"8.12691E-6"	"01804"	"GNPTAB_000340"	"g.102151036C>T"	""	""	""	"GNPTAB(NM_024312.5):c.3388G>A (p.(Val1130Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038876"	"0"	"50"	"12"	"102158810"	"102158810"	"subst"	"4.875E-5"	"01804"	"GNPTAB_000341"	"g.102158810T>C"	""	""	""	"GNPTAB(NM_024312.5):c.1885A>G (p.(Ile629Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038877"	"0"	"50"	"12"	"102160052"	"102160052"	"subst"	"0.000467594"	"01804"	"GNPTAB_000024"	"g.102160052A>C"	""	""	""	"GNPTAB(NM_024312.5):c.1429T>G (p.(Tyr477Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038878"	"0"	"50"	"12"	"102164347"	"102164347"	"subst"	"0"	"01804"	"GNPTAB_000342"	"g.102164347T>A"	""	""	""	"GNPTAB(NM_024312.5):c.950A>T (p.(Asp317Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038879"	"0"	"90"	"12"	"102173930"	"102173930"	"subst"	"0"	"01804"	"GNPTAB_000098"	"g.102173930C>T"	""	""	""	"GNPTAB(NM_024312.5):c.771G>A (p.(Leu257=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001038880"	"0"	"50"	"12"	"102173994"	"102173994"	"subst"	"0"	"01804"	"GNPTAB_000343"	"g.102173994G>T"	""	""	""	"GNPTAB(NM_024312.5):c.707C>A (p.(Thr236Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001038881"	"0"	"30"	"12"	"102174406"	"102174406"	"subst"	"0"	"01804"	"GNPTAB_000344"	"g.102174406C>T"	""	""	""	"GNPTAB(NM_024312.5):c.572-7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001049066"	"1"	"90"	"12"	"102164280"	"102164283"	"dup"	"0"	"00006"	"GNPTAB_000112"	"g.102164280_102164283dup"	""	"{PMID:Soden 2014:25473036}"	""	"ref?:c.1017_1020dupTGCA"	""	"Germline"	""	""	"0"	""	""	"g.101770502_101770505dup"	""	"pathogenic (recessive)"	""
"0001049077"	"2"	"90"	"12"	"102164296"	"102164296"	"subst"	"8.12684E-6"	"00006"	"GNPTAB_000110"	"g.102164296C>T"	""	"{PMID:Soden 2014:25473036}"	""	"ref?:c.1001G>A"	""	"Germline"	""	""	"0"	""	""	"g.101770518C>T"	""	"pathogenic (recessive)"	""
"0001054450"	"0"	"90"	"12"	"102151344"	"102151344"	"subst"	"4.87892E-5"	"02327"	"GNPTAB_000225"	"g.102151344A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001054451"	"0"	"50"	"12"	"102154930"	"102154930"	"subst"	"4.06286E-5"	"01804"	"GNPTAB_000345"	"g.102154930A>G"	""	""	""	"GNPTAB(NM_024312.5):c.3110T>C (p.(Ile1037Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054452"	"0"	"50"	"12"	"102154948"	"102154948"	"subst"	"8.12546E-6"	"01804"	"GNPTAB_000346"	"g.102154948C>T"	""	""	""	"GNPTAB(NM_024312.5):c.3092G>A (p.(Arg1031Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054453"	"0"	"50"	"12"	"102155119"	"102155119"	"subst"	"0"	"01804"	"GNPTAB_000347"	"g.102155119G>A"	""	""	""	"GNPTAB(NM_024312.5):c.2921C>T (p.(Pro974Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001054454"	"0"	"90"	"12"	"102157978"	"102157978"	"subst"	"4.06412E-6"	"01804"	"GNPTAB_000059"	"g.102157978A>C"	""	""	""	"GNPTAB(NM_024312.4):c.2715+2T>G, GNPTAB(NM_024312.5):c.2715+2T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001054455"	"0"	"90"	"12"	"102163887"	"102163887"	"subst"	"1.62488E-5"	"01804"	"GNPTAB_000049"	"g.102163887G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1196C>T (p.S399F), GNPTAB(NM_024312.5):c.1196C>T (p.(Ser399Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001054456"	"0"	"90"	"12"	"102164207"	"102164207"	"subst"	"1.21846E-5"	"02327"	"GNPTAB_000050"	"g.102164207G>A"	""	""	""	"GNPTAB(NM_024312.4):c.1090C>T (p.R364*), GNPTAB(NM_024312.5):c.1090C>T (p.R364*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001058740"	"0"	"90"	"12"	"102147250"	"102147251"	"del"	"0"	"00006"	"GNPTAB_000001"	"g.102147250_102147251del"	""	"{PMID:Retterer 2016:26633542}"	""	"3503_3504delTC"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.101753472_101753473del"	""	"pathogenic"	""
"0001058741"	"0"	"90"	"12"	"102163960"	"102163960"	"subst"	"3.65634E-5"	"00006"	"GNPTAB_000005"	"g.102163960G>A"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.101770182G>A"	""	"pathogenic"	""
"0001058742"	"0"	"90"	"12"	"102147250"	"102147251"	"del"	"0"	"00006"	"GNPTAB_000001"	"g.102147250_102147251del"	""	"{PMID:Retterer 2016:26633542}"	""	"3503_3504delTC"	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.101753472_101753473del"	""	"pathogenic"	""
"0001058743"	"0"	"90"	"12"	"102158622"	"102158623"	"ins"	"0"	"00006"	"GNPTAB_000160"	"g.102158622_102158623insC"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.101764844_101764845insC"	""	"pathogenic"	""
"0001059659"	"3"	"70"	"12"	"102163949"	"102163949"	"subst"	"0"	"00006"	"GNPTAB_000348"	"g.102163949G>C"	""	"{PMID:Jacob 2025:39706863}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770171G>C"	"SCV002507187.1"	"likely pathogenic (recessive)"	""
"0001059660"	"21"	"70"	"12"	"102179844"	"102179844"	"del"	"0"	"00006"	"GNPTAB_000349"	"g.102179844del"	""	"{PMID:Jacob 2025:39706863}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101786066del"	"SCV002507166.1"	"likely pathogenic (recessive)"	""
"0001059661"	"3"	"70"	"12"	"102163887"	"102163887"	"subst"	"1.62488E-5"	"00006"	"GNPTAB_000049"	"g.102163887G>A"	""	"{PMID:Jacob 2025:39706863}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101770109G>A"	"SCV004692830.1"	"likely pathogenic (recessive)"	""
"0001059722"	"11"	"70"	"12"	"102142959"	"102142959"	"subst"	"8.12902E-6"	"00006"	"GNPTAB_000244"	"g.102142959G>A"	""	"{PMID:Jacob 2025:39706863}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.101749181G>A"	"SCV002507167.1"	"likely pathogenic (recessive)"	""


## 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 GNPTAB
## Count = 404
"{{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}}"
"0000000273"	"00023993"	"90"	"3503"	"0"	"3504"	"0"	"c.3503_3504del"	"r.(?)"	"p.(Leu1168Glnfs*5)"	"19"
"0000000274"	"00023993"	"90"	"1581"	"0"	"1581"	"0"	"c.1581del"	"r.(?)"	"p.(Cys528Valfs*19)"	"12"
"0000000275"	"00023993"	"90"	"849"	"0"	"850"	"0"	"c.849_850del"	"r.(?)"	"p.(Gln283Hisfs*2)"	"8"
"0000000276"	"00023993"	"90"	"3231"	"0"	"3234"	"0"	"c.3231_3234dup"	"r.(?)"	"p.(Tyr1079Leufs*3)"	"16"
"0000000277"	"00023993"	"90"	"1123"	"0"	"1123"	"0"	"c.1123C>T"	"r.(?)"	"p.(Arg375*)"	"10"
"0000061766"	"00023993"	"70"	"137"	"0"	"137"	"0"	"c.137G>A"	"r.(?)"	"p.(Arg46Gln)"	"2"
"0000061767"	"00023993"	"79"	"232"	"0"	"234"	"0"	"c.232_234del"	"r.(?)"	"p.(Val78del)"	"3"
"0000061768"	"00023993"	"70"	"337"	"0"	"337"	"0"	"c.337A>G"	"r.(?)"	"p.(Lys113Glu)"	"4"
"0000061769"	"00023993"	"50"	"500"	"0"	"500"	"0"	"c.500T>A"	"r.(?)"	"p.(Ile167Asn)"	"5"
"0000061770"	"00023993"	"77"	"560"	"0"	"560"	"0"	"c.560G>C"	"r.(?)"	"p.(Ser187Thr)"	"5"
"0000061771"	"00023993"	"50"	"580"	"0"	"580"	"0"	"c.580G>A"	"r.(?)"	"p.(Ala194Thr)"	"6"
"0000061772"	"00023993"	"50"	"886"	"0"	"886"	"0"	"c.886A>G"	"r.(?)"	"p.(Thr296Ala)"	"8"
"0000061773"	"00023993"	"70"	"961"	"0"	"961"	"0"	"c.961A>G"	"r.(?)"	"p.(Ser321Gly)"	"9"
"0000061774"	"00023993"	"70"	"1253"	"0"	"1253"	"0"	"c.1253A>G"	"r.(?)"	"p.(Asp418Gly)"	""
"0000061775"	"00023993"	"70"	"1283"	"0"	"1283"	"0"	"c.1283A>G"	"r.(?)"	"p.(Lys428Arg)"	""
"0000061776"	"00023993"	"70"	"1363"	"0"	"1363"	"0"	"c.1363G>T"	"r.(?)"	"p.(Ala455Ser)"	""
"0000061777"	"00023993"	"50"	"1429"	"0"	"1429"	"0"	"c.1429T>G"	"r.(?)"	"p.(Tyr477Asp)"	""
"0000061778"	"00023993"	"70"	"1433"	"0"	"1433"	"0"	"c.1433T>C"	"r.(?)"	"p.(Ile478Thr)"	""
"0000061779"	"00023993"	"70"	"1669"	"0"	"1669"	"0"	"c.1669A>C"	"r.(?)"	"p.(Ile557Leu)"	""
"0000061780"	"00023993"	"50"	"1803"	"0"	"1803"	"0"	"c.1803A>G"	"r.(?)"	"p.(Ile601Met)"	""
"0000061781"	"00023993"	"70"	"1875"	"0"	"1875"	"0"	"c.1875C>G"	"r.(?)"	"p.(Phe625Leu)"	""
"0000061782"	"00023993"	"70"	"1931"	"0"	"1932"	"0"	"c.1931_1932inv"	"r.(?)"	"p.(Thr644Met)"	""
"0000061783"	"00023993"	"70"	"1943"	"0"	"1943"	"0"	"c.1943G>A"	"r.(?)"	"p.(Gly648Asp)"	""
"0000064646"	"00023993"	"70"	"1948"	"0"	"1948"	"0"	"c.1948G>A"	"r.(?)"	"p.(Glu650Lys)"	""
"0000064647"	"00023993"	"70"	"1985"	"0"	"1985"	"0"	"c.1985C>T"	"r.(?)"	"p.(Ala662Val)"	""
"0000064648"	"00023993"	"50"	"2081"	"0"	"2081"	"0"	"c.2081A>C"	"r.(?)"	"p.(Lys694Thr)"	""
"0000064649"	"00023993"	"77"	"2341"	"0"	"2341"	"0"	"c.2341G>A"	"r.(?)"	"p.(Val781Met)"	"13"
"0000064650"	"00023993"	"70"	"2582"	"0"	"2582"	"0"	"c.2582G>A"	"r.(?)"	"p.(Arg861Lys)"	""
"0000064651"	"00023993"	"70"	"2900"	"0"	"2900"	"0"	"c.2900A>G"	"r.(?)"	"p.(Gln967Arg)"	""
"0000064652"	"00023993"	"70"	"3571"	"0"	"3571"	"0"	"c.3571C>T"	"r.(?)"	"p.(Arg1191Cys)"	""
"0000064653"	"00023993"	"50"	"3572"	"0"	"3572"	"0"	"c.3572G>A"	"r.(?)"	"p.(Arg1191His)"	""
"0000064654"	"00023993"	"70"	"3598"	"0"	"3598"	"0"	"c.3598G>A"	"r.(?)"	"p.(Glu1200Lys)"	""
"0000064655"	"00023993"	"70"	"3707"	"0"	"3707"	"0"	"c.3707A>G"	"r.(?)"	"p.(Lys1236Arg)"	""
"0000065290"	"00023993"	"70"	"70"	"0"	"70"	"0"	"c.70T>G"	"r.(?)"	"p.(Phe24Val)"	"1"
"0000248023"	"00023993"	"10"	"3135"	"5"	"3135"	"5"	"c.3135+5T>C"	"r.spl?"	"p.?"	""
"0000253284"	"00023993"	"10"	"3135"	"5"	"3135"	"5"	"c.3135+5T>C"	"r.spl?"	"p.?"	""
"0000253852"	"00023993"	"10"	"3336"	"-25"	"3336"	"-25"	"c.3336-25T>C"	"r.(=)"	"p.(=)"	""
"0000255693"	"00023993"	"90"	"2715"	"2"	"2715"	"2"	"c.2715+2T>G"	"r.spl?"	"p.?"	""
"0000281105"	"00023993"	"10"	"1932"	"0"	"1932"	"0"	"c.1932A>G"	"r.(?)"	"p.(Thr644=)"	""
"0000284742"	"00023993"	"30"	"-41"	"0"	"-39"	"0"	"c.-41_-39del"	"r.(?)"	"p.(=)"	""
"0000284743"	"00023993"	"10"	"1931"	"0"	"1931"	"0"	"c.1931C>T"	"r.(?)"	"p.(Thr644Ile)"	""
"0000284744"	"00023993"	"10"	"3693"	"10"	"3693"	"10"	"c.3693+10A>T"	"r.(=)"	"p.(=)"	""
"0000288553"	"00023993"	"10"	"-41"	"0"	"-39"	"0"	"c.-41_-39del"	"r.(?)"	"p.(=)"	""
"0000288554"	"00023993"	"99"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364Ter)"	"9"
"0000288555"	"00023993"	"90"	"1123"	"0"	"1123"	"0"	"c.1123C>T"	"r.(?)"	"p.(Arg375Ter)"	""
"0000288556"	"00023993"	"13"	"117"	"27"	"117"	"27"	"c.117+27C>G"	"r.(=)"	"p.(=)"	"1i"
"0000288557"	"00023993"	"90"	"1196"	"0"	"1196"	"0"	"c.1196C>T"	"r.(?)"	"p.(Ser399Phe)"	""
"0000288558"	"00023993"	"10"	"137"	"0"	"137"	"0"	"c.137G>A"	"r.(?)"	"p.(Arg46Gln)"	""
"0000288559"	"00023993"	"90"	"1514"	"0"	"1514"	"0"	"c.1514G>A"	"r.(?)"	"p.(Cys505Tyr)"	""
"0000288560"	"00023993"	"90"	"1581"	"0"	"1581"	"0"	"c.1581del"	"r.(?)"	"p.(Cys528ValfsTer19)"	""
"0000288561"	"00023993"	"11"	"18"	"0"	"18"	"0"	"c.18G>A"	"r.(?)"	"p.(Leu6=)"	"1"
"0000288562"	"00023993"	"10"	"1932"	"0"	"1932"	"0"	"c.1932A>G"	"r.(?)"	"p.(Thr644=)"	""
"0000288563"	"00023993"	"90"	"2074"	"0"	"2074"	"0"	"c.2074G>T"	"r.(?)"	"p.(Glu692Ter)"	""
"0000288564"	"00023993"	"90"	"2213"	"0"	"2213"	"0"	"c.2213C>A"	"r.(?)"	"p.(Ser738Ter)"	""
"0000288565"	"00023993"	"99"	"232"	"0"	"234"	"0"	"c.232_234del"	"r.(?)"	"p.(Val78del)"	"3"
"0000288566"	"00023993"	"30"	"2582"	"0"	"2582"	"0"	"c.2582G>A"	"r.(?)"	"p.(Arg861Lys)"	""
"0000288567"	"00023993"	"90"	"2701"	"0"	"2701"	"0"	"c.2701C>T"	"r.(?)"	"p.(Gln901Ter)"	""
"0000288568"	"00023993"	"90"	"2715"	"1"	"2715"	"1"	"c.2715+1G>A"	"r.spl?"	"p.?"	""
"0000288570"	"00023993"	"90"	"3091"	"0"	"3091"	"0"	"c.3091C>T"	"r.(?)"	"p.(Arg1031Ter)"	""
"0000288572"	"00023993"	"99"	"3503"	"0"	"3504"	"0"	"c.3503_3504del"	"r.(?)"	"p.(Leu1168GlnfsTer5)"	"19"
"0000288573"	"00023993"	"10"	"3602"	"8"	"3602"	"8"	"c.3602+8C>A"	"r.(=)"	"p.(=)"	""
"0000288574"	"00023993"	"10"	"365"	"96"	"365"	"97"	"c.365+96_365+97del"	"r.(=)"	"p.(=)"	"4i"
"0000323039"	"00023993"	"50"	"382"	"0"	"382"	"0"	"c.382T>C"	"r.(?)"	"p.(Cys128Arg)"	"5"
"0000345081"	"00023993"	"30"	"3598"	"0"	"3598"	"0"	"c.3598G>A"	"r.(?)"	"p.(Glu1200Lys)"	""
"0000369752"	"00023993"	"99"	"10"	"0"	"10"	"0"	"c.10A>C"	"r.(?)"	"p.(Lys4Gln)"	"1"
"0000371813"	"00023993"	"99"	"22"	"0"	"22"	"0"	"c.22A>G"	"r.(?)"	"p.(Arg8Gly)"	"1"
"0000371814"	"00023993"	"99"	"44"	"0"	"44"	"0"	"c.44C>A"	"r.(?)"	"p.(Ser15Tyr)"	"1"
"0000371815"	"00023993"	"99"	"88"	"0"	"89"	"0"	"c.88_89del"	"r.(?)"	"p.(Thr30Hisfs*24)"	"1"
"0000371816"	"00023993"	"99"	"99"	"0"	"99"	"0"	"c.99del"	"r.(?)"	"p.(Ala34Profs*49)"	"1"
"0000371817"	"00023993"	"99"	"100"	"0"	"100"	"0"	"c.100G>C"	"r.(?)"	"p.(Ala34Pro)"	"1"
"0000371818"	"00023993"	"99"	"118"	"-1"	"118"	"-1"	"c.118-1G>A"	"r.spl?"	"p.?"	"1i"
"0000371819"	"00023993"	"99"	"118"	"-2"	"118"	"-2"	"c.118-2A>G"	"r.118_203del"	"p.Val40Alafs*8"	"1i"
"0000371820"	"00023993"	"99"	"120"	"0"	"2715"	"2"	"c.120_2715+2del"	"r.118_2715del"	"p.(Val40_Asp905del)"	"2"
"0000371821"	"00023993"	"99"	"121"	"0"	"121"	"0"	"c.121del"	"r.(?)"	"p.(Val41Phefs*42)"	"2"
"0000371822"	"00023993"	"99"	"132"	"0"	"132"	"0"	"c.132G>A"	"r.(?)"	"p.(Trp44*)"	"2"
"0000371855"	"00023993"	"99"	"136"	"0"	"136"	"0"	"c.136C>T"	"r.(?)"	"p.(Arg46*)"	"2"
"0000371856"	"00023993"	"99"	"163"	"0"	"163"	"0"	"c.163dup"	"r.163dup"	"p.Ser55Phefs*3"	"2"
"0000371857"	"00023993"	"99"	"168"	"0"	"168"	"0"	"c.168T>A"	"r.(?)"	"p.(Tyr56*)"	"2"
"0000371858"	"00023993"	"99"	"171"	"0"	"171"	"0"	"c.171del"	"r.(?)"	"p.(Asp58Thrfs*25)"	"2"
"0000371859"	"00023993"	"99"	"118"	"0"	"223"	"0"	"c.118_223dup"	"r.118_203dup"	"p.(Leu69Trpfs*43)"	"2"
"0000371860"	"00023993"	"99"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Gln66*)"	"2"
"0000371861"	"00023993"	"99"	"227"	"0"	"227"	"0"	"c.227A>G"	"r.(?)"	"p.(Asp76Gly)"	"2"
"0000371862"	"00023993"	"99"	"232"	"0"	"234"	"0"	"c.232_234del"	"r.(?)"	"p.(Val78del)"	"3"
"0000371863"	"00023993"	"99"	"242"	"0"	"242"	"0"	"c.242G>T"	"r.242g>u"	"p.Trp81Leu"	"3"
"0000371865"	"00023993"	"99"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Gln104*)"	"3"
"0000371866"	"00023993"	"99"	"344"	"0"	"345"	"0"	"c.344_345del"	"r.(?)"	"p.(Thr115Asnfs*5)"	"4"
"0000371867"	"00023993"	"99"	"366"	"-1"	"366"	"-1"	"c.366-1G>C"	"r.spl?"	"p.?"	"4i"
"0000371868"	"00023993"	"99"	"441"	"0"	"441"	"0"	"c.441del"	"r.411del"	"p.Asn148Thrfs*4"	"5"
"0000371871"	"00023993"	"99"	"471"	"0"	"472"	"0"	"c.471_472del"	"r.(?)"	"p.(Tyr158Serfs*8)"	"5"
"0000371874"	"00023993"	"99"	"517"	"0"	"518"	"0"	"c.517_518insA"	"r.(?)"	"p.(Pro173Hisfs*14)"	"5"
"0000371875"	"00023993"	"99"	"523"	"0"	"524"	"0"	"c.523_524delinsG"	"r.(?)"	"p.(Asn175Alafs*38)"	"5"
"0000371876"	"00023993"	"99"	"545"	"0"	"545"	"0"	"c.545T>A"	"r.545u>a"	"p.Val182Asp"	"5"
"0000371877"	"00023993"	"99"	"569"	"0"	"569"	"0"	"c.569A>T"	"r.568_571del"	"p.Asp190Leufs*31"	"5"
"0000371878"	"00023993"	"99"	"571"	"3"	"571"	"3"	"c.571+3A>C"	"r.366_571del"	"p.Glu123*"	"5i"
"0000371881"	"00023993"	"99"	"614"	"0"	"614"	"0"	"c.614A>C"	"r.614a>c"	"p.Gln205Pro"	"6"
"0000371882"	"00023993"	"99"	"616"	"0"	"619"	"0"	"c.616_619del"	"r.(?)"	"p.(Thr206Tyrfs*6)"	"6"
"0000371883"	"00023993"	"99"	"625"	"0"	"629"	"0"	"c.625_629del"	"r.(?)"	"p.(Arg209Leufs*6)"	"6"
"0000371888"	"00023993"	"99"	"637"	"-1"	"637"	"-1"	"c.637-1G>A"	"r.spl?"	"p.?"	"6i"
"0000371889"	"00023993"	"99"	"637"	"-6"	"637"	"-6"	"c.637-6T>G"	"r.(=)"	"p.(Thr213Phefs*11)"	"6i"
"0000371890"	"00023993"	"99"	"648"	"0"	"651"	"0"	"c.648_651del"	"r.(?)"	"p.(Glu217Serfs*4)"	"7"
"0000371891"	"00023993"	"99"	"749"	"0"	"749"	"0"	"c.749dup"	"r.749dup"	"p.Asn250Lysfs*5"	"7"
"0000371892"	"00023993"	"99"	"750"	"0"	"751"	"0"	"c.750_751insA"	"r.(?)"	"p.(Leu251Thrfs*4)"	"7"
"0000371893"	"00023993"	"99"	"755"	"0"	"759"	"0"	"c.755_759del"	"r.755_759del"	"p.Ser252*"	"7"
"0000371894"	"00023993"	"99"	"771"	"0"	"771"	"0"	"c.771G>A"	"r.637_771del"	"p.Thr213_Leu257del"	"7"
"0000371895"	"00023993"	"99"	"831"	"0"	"831"	"0"	"c.831del"	"r.(?)"	"p.(Gln278Lysfs*3)"	"8"
"0000371896"	"00023993"	"99"	"832"	"0"	"832"	"0"	"c.832C>T"	"r.(?)"	"p.(Gln278*)"	"8"
"0000371897"	"00023993"	"99"	"835"	"0"	"835"	"0"	"c.835G>T"	"r.(?)"	"p.(Glu279*)"	"8"
"0000371898"	"00023993"	"99"	"850"	"0"	"850"	"0"	"c.850del"	"r.(?)"	"p.(Thr284Leufs*5)"	"8"
"0000371899"	"00023993"	"99"	"857"	"0"	"857"	"0"	"c.857dup"	"r.857dup"	"p.Asn287Glufs*5"	"8"
"0000371900"	"00023993"	"99"	"890"	"0"	"890"	"0"	"c.890dup"	"r.(?)"	"p.(Ser298Lysfs*16)"	"8"
"0000371901"	"00023993"	"99"	"914"	"0"	"914"	"0"	"c.914dup"	"r.(?)"	"p.(Asp305Glufs*9)"	"8"
"0000371902"	"00023993"	"99"	"940"	"0"	"940"	"0"	"c.940C>T"	"r.940c>u"	"p.Gln314*"	"9"
"0000371903"	"00023993"	"99"	"992"	"0"	"992"	"0"	"c.992A>G"	"r.(?)"	"p.(Tyr331Cys)"	"9"
"0000371904"	"00023993"	"99"	"1000"	"0"	"1000"	"0"	"c.1000C>T"	"r.(?)"	"p.(Arg334*)"	"9"
"0000375693"	"00023993"	"99"	"1001"	"0"	"1001"	"0"	"c.1001G>T"	"r.(?)"	"p.(Arg334Leu)"	"9"
"0000375694"	"00023993"	"99"	"1001"	"0"	"1001"	"0"	"c.1001G>A"	"r.(?)"	"p.(Arg334Gln)"	"9"
"0000375695"	"00023993"	"99"	"1001"	"0"	"1001"	"0"	"c.1001G>C"	"r.(?)"	"p.(Arg334Pro)"	"9"
"0000375696"	"00023993"	"99"	"1017"	"0"	"1020"	"0"	"c.1017_1020dup"	"r.(?)"	"p.(Pro341Cysfs*22)"	"9"
"0000375697"	"00023993"	"99"	"1021"	"0"	"1023"	"0"	"c.1021_1023del"	"r.(?)"	"p.(Pro341del)"	"9"
"0000375698"	"00023993"	"99"	"1022"	"0"	"1022"	"0"	"c.1022del"	"r.(?)"	"p.(Pro341Hisfs*18)"	"9"
"0000375699"	"00023993"	"99"	"1042"	"0"	"1042"	"0"	"c.1042A>C"	"r.(?)"	"p.(Ile348Leu)"	"9"
"0000375700"	"00023993"	"99"	"1052"	"0"	"1052"	"0"	"c.1052dup"	"r.(?)"	"p.(Asn351Lysfs*11)"	"9"
"0000375701"	"00023993"	"99"	"3503"	"0"	"3504"	"0"	"c.3503_3504del"	"r.3503_3504del"	"p.Leu1168Glnfs*5"	"19"
"0000375702"	"00023993"	"99"	"1071"	"0"	"1071"	"0"	"c.1071G>A"	"r.(?)"	"p.(Trp357*)"	"9"
"0000375703"	"00023993"	"99"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364*)"	"9"
"0000375704"	"00023993"	"99"	"934"	"0"	"1013"	"0"	"c.934_1013del"	"r.(?)"	"p.(Ser312Alafs*23)"	"9"
"0000375705"	"00023993"	"99"	"1148"	"0"	"1150"	"0"	"c.1148_1150dup"	"r.(?)"	"p.(Phe383_Ser384insIle)"	"10"
"0000375706"	"00023993"	"99"	"1191"	"0"	"1194"	"0"	"c.1191_1194dup"	"r.1191_1194dup"	"p.Ser399Alafs*10"	"10"
"0000375707"	"00023993"	"99"	"1120"	"0"	"1120"	"0"	"c.1120T>C"	"r.(?)"	"p.(Phe374Leu)"	"10"
"0000378643"	"00023993"	"99"	"1123"	"0"	"1123"	"0"	"c.1123C>T"	"r.1123c>u"	"p.Arg375*"	"10"
"0000378648"	"00023993"	"99"	"1144"	"0"	"1144"	"0"	"c.1144A>C"	"r.(?)"	"p.(Thr382Pro)"	"10"
"0000378649"	"00023993"	"99"	"1154"	"0"	"1154"	"0"	"c.1154C>T"	"r.(?)"	"p.(Ser385Leu)"	"10"
"0000378650"	"00023993"	"99"	"1178"	"0"	"1178"	"0"	"c.1178A>G"	"r.(?)"	"p.(His393Arg)"	"10"
"0000378652"	"00023993"	"99"	"1196"	"0"	"1196"	"0"	"c.1196C>T"	"r.1196c>u"	"p.Ser399Phe"	"10"
"0000378653"	"00023993"	"99"	"1206"	"0"	"1206"	"0"	"c.1206dup"	"r.1206dup"	"p.(Ile403Tyrfs*5)"	"10"
"0000378655"	"00023993"	"99"	"1208"	"0"	"1208"	"0"	"c.1208T>C"	"r.1208u>c"	"p.Ile403Thr"	"10"
"0000378656"	"00023993"	"99"	"1212"	"0"	"1212"	"0"	"c.1212C>G"	"r.(?)"	"p.(Tyr404*)"	"10"
"0000378658"	"00023993"	"99"	"1222"	"0"	"1222"	"0"	"c.1222G>A"	"r.(?)"	"p.(Asp408Asn)"	"10"
"0000378659"	"00023993"	"99"	"1247"	"0"	"1247"	"0"	"c.1247G>A"	"r.(?)"	"p.(Trp416*)"	"10"
"0000378660"	"00023993"	"99"	"1285"	"-2"	"1285"	"-2"	"c.1285-2A>G"	"r.spl?"	"p.?"	"10i"
"0000378661"	"00023993"	"99"	"1325"	"0"	"1325"	"0"	"c.1325G>A"	"r.1325g>a"	"p.Cys442Tyr"	"11"
"0000378662"	"00023993"	"99"	"1331"	"0"	"1331"	"0"	"c.1331dup"	"r.(?)"	"p.(Ser445Phefs*4)"	"11"
"0000378663"	"00023993"	"99"	"1381"	"0"	"1381"	"0"	"c.1381T>G"	"r.1381u>g"	"p.Cys461Gly"	"11"
"0000378664"	"00023993"	"99"	"1220"	"0"	"1220"	"0"	"c.1220A>C"	"r.1220a>c"	"p.Asp407Ala"	"10"
"0000378666"	"00023993"	"99"	"1337"	"0"	"1337"	"0"	"c.1337G>A"	"r.(?)"	"p.(Trp446*)"	"11"
"0000378667"	"00023993"	"99"	"1385"	"0"	"1385"	"0"	"c.1385dup"	"r.1385dup"	"p.Asp462Glufs*45"	"11"
"0000378668"	"00023993"	"99"	"1389"	"0"	"1389"	"0"	"c.1389G>A"	"r.(?)"	"p.(Trp463*)"	"11"
"0000378669"	"00023993"	"99"	"1399"	"0"	"1399"	"0"	"c.1399del"	"r.1399del"	"p.Asp467Ilefs*33"	"11"
"0000378670"	"00023993"	"99"	"1402"	"0"	"1402"	"0"	"c.1402T>A"	"r.(?)"	"p.(Cys468Ser)"	"11"
"0000378671"	"00023993"	"99"	"1514"	"0"	"1514"	"0"	"c.1514G>A"	"r.(?)"	"p.(Cys505Tyr)"	"12"
"0000378672"	"00023993"	"99"	"1519"	"0"	"1519"	"0"	"c.1519C>T"	"r.(?)"	"p.(Gln507*)"	"12"
"0000378673"	"00023993"	"99"	"1523"	"0"	"1523"	"0"	"c.1523del"	"r.(?)"	"p.(Gly508Aspfs*39)"	"12"
"0000378674"	"00023993"	"99"	"1567"	"0"	"1567"	"0"	"c.1567T>C"	"r.(?)"	"p.(Cys523Arg)"	"12"
"0000378675"	"00023993"	"99"	"1581"	"0"	"1581"	"0"	"c.1581del"	"r.1581del"	"p.Cys528Valfs*19"	"12"
"0000378676"	"00023993"	"99"	"1600"	"0"	"1600"	"0"	"c.1600G>A"	"r.(?)"	"p.(Asp534Asn)"	"12"
"0000378677"	"00023993"	"99"	"1624"	"0"	"1625"	"0"	"c.1624_1625insC"	"r.(?)"	"p.(Glu542Alafs*4)"	"13"
"0000378678"	"00023993"	"99"	"1701"	"0"	"1701"	"0"	"c.1701del"	"r.(?)"	"p.(Phe568Leufs*4)"	"13"
"0000378679"	"00023993"	"99"	"1723"	"0"	"1723"	"0"	"c.1723G>A"	"r.(?)"	"p.(Gly575Arg)"	"13"
"0000378680"	"00023993"	"99"	"1741"	"0"	"1742"	"0"	"c.1741_1742insTATATATA"	"r.(?)"	"p.(Ser581Ilefs*8)"	"13"
"0000378681"	"00023993"	"99"	"1759"	"0"	"1759"	"0"	"c.1759C>T"	"r.(?)"	"p.(Arg587*)"	"13"
"0000378682"	"00023993"	"99"	"1763"	"0"	"1763"	"0"	"c.1763dup"	"r.(?)"	"p.(His588Glnfs*27)"	"13"
"0000378683"	"00023993"	"99"	"1760"	"0"	"1760"	"0"	"c.1760G>C"	"r.(?)"	"p.(Arg587Pro)"	"13"
"0000378684"	"00023993"	"99"	"1774"	"0"	"1774"	"0"	"c.1774G>A"	"r.(?)"	"p.(Ala592Thr)"	"13"
"0000378685"	"00023993"	"99"	"1905"	"0"	"1908"	"0"	"c.1905_1908del"	"r.(?)"	"p.(Glu637Aspfs*4)"	"13"
"0000378686"	"00023993"	"99"	"1924"	"0"	"1927"	"0"	"c.1924_1927del"	"r.(?)"	"p.(Asn642Leufs*10)"	"13"
"0000378687"	"00023993"	"99"	"1959"	"0"	"1962"	"0"	"c.1959_1962del"	"r.1959_1962del"	"p.Ser654Profs*2"	"13"
"0000378688"	"00023993"	"99"	"1965"	"0"	"1965"	"0"	"c.1965del"	"r.1965del"	"p.Ile656*"	"13"
"0000378689"	"00023993"	"99"	"1931"	"0"	"1932"	"0"	"c.1931_1932inv"	"r.(?)"	"p.(Thr644Met)"	"13"
"0000378690"	"00023993"	"99"	"1999"	"0"	"1999"	"0"	"c.1999G>T"	"r.1999g>u"	"p.Glu667*"	"13"
"0000378691"	"00023993"	"99"	"1999"	"0"	"2000"	"0"	"c.1999_2000insT"	"r.(?)"	"p.(Glu667Valfs*13)"	"13"
"0000378692"	"00023993"	"99"	"2053"	"0"	"2057"	"0"	"c.2053_2057del"	"r.(?)"	"p.(Ser685Lysfs*61)"	"13"
"0000378695"	"00023993"	"99"	"2072"	"0"	"2073"	"0"	"c.2072_2073insG"	"r.(?)"	"p.(Glu692Argfs*56)"	"13"
"0000378696"	"00023993"	"99"	"2089"	"0"	"2089"	"0"	"c.2089dup"	"r.(?)"	"p.(Leu697Profs*51)"	"13"
"0000378697"	"00023993"	"99"	"2188"	"0"	"2188"	"0"	"c.2188delinsAAA"	"r.(?)"	"p.(Leu730Lysfs*8)"	"13"
"0000378698"	"00023993"	"99"	"2189"	"0"	"2189"	"0"	"c.2189del"	"r.(?)"	"p.(Leu730Cysfs*7)"	"13"
"0000378699"	"00023993"	"99"	"2196"	"0"	"2196"	"0"	"c.2196G>T"	"r.2196g>u"	"p.Lys732Asn"	"13"
"0000378700"	"00023993"	"99"	"2213"	"0"	"2213"	"0"	"c.2213C>A"	"r.(?)"	"p.(Ser738*)"	"13"
"0000378701"	"00023993"	"99"	"2220"	"0"	"2221"	"0"	"c.2220_2221dup"	"r.2220_2221dup"	"p.Met741Argfs*2"	"13"
"0000378702"	"00023993"	"99"	"2249"	"0"	"2249"	"0"	"c.2249dup"	"r.2249dup"	"p.Asn750Lysfs*8"	"13"
"0000378703"	"00023993"	"99"	"2269"	"0"	"2273"	"0"	"c.2269_2273del"	"r.(?)"	"p.(Glu757Lysfs*2)"	"13"
"0000378704"	"00023993"	"99"	"2275"	"0"	"2276"	"0"	"c.2275_2276del"	"r.(?)"	"p.(Asn759*)"	"13"
"0000378705"	"00023993"	"99"	"2280"	"0"	"2281"	"0"	"c.2280_2281del"	"r.(?)"	"p.(Asp760Glufs*12)"	"13"
"0000378706"	"00023993"	"99"	"2345"	"0"	"2345"	"0"	"c.2345C>T"	"r.(?)"	"p.(Ser782Phe)"	"13"
"0000378707"	"00023993"	"99"	"2354"	"0"	"2354"	"0"	"c.2354T>G"	"r.(?)"	"p.(Leu785Trp)"	"13"
"0000378708"	"00023993"	"99"	"2356"	"0"	"2356"	"0"	"c.2356C>T"	"r.(?)"	"p.(Gln786*)"	"13"
"0000378709"	"00023993"	"99"	"2404"	"0"	"2404"	"0"	"c.2404C>T"	"r.(?)"	"p.(Gln802*)"	"13"
"0000378710"	"00023993"	"99"	"2422"	"0"	"2422"	"0"	"c.2422del"	"r.(?)"	"p.(Leu808Trpfs*19)"	"13"
"0000378711"	"00023993"	"99"	"2427"	"0"	"2427"	"0"	"c.2427del"	"r.(?)"	"p.(Leu810Trpfs*17)"	"13"
"0000378712"	"00023993"	"99"	"2455"	"0"	"2455"	"0"	"c.2455G>T"	"r.(?)"	"p.(Glu819*)"	"13"
"0000378713"	"00023993"	"99"	"2473"	"0"	"2473"	"0"	"c.2473dup"	"r.(?)"	"p.(Thr825Asnfs*37)"	"13"
"0000378714"	"00023993"	"99"	"2533"	"0"	"2533"	"0"	"c.2533C>T"	"r.(?)"	"p.(Gln845*)"	"13"
"0000378715"	"00023993"	"99"	"2544"	"0"	"2544"	"0"	"c.2544del"	"r.(?)"	"p.(Glu849Lysfs*22)"	"13"
"0000378716"	"00023993"	"99"	"2550"	"0"	"2554"	"0"	"c.2550_2554del"	"r.2550_2554del"	"p.Lys850Asnfs*10"	"13"
"0000378717"	"00023993"	"99"	"2574"	"0"	"2575"	"0"	"c.2574_2575del"	"r.(?)"	"p.(Asn859Glnfs*2)"	"13"
"0000378718"	"00023993"	"99"	"2591"	"0"	"2592"	"0"	"c.2591_2592insG"	"r.(?)"	"p.(Asn865Lysfs*3)"	"13"
"0000378719"	"00023993"	"99"	"2644"	"0"	"2644"	"0"	"c.2644C>T"	"r.(?)"	"p.(Gln882*)"	"13"
"0000378720"	"00023993"	"99"	"2659"	"0"	"2659"	"0"	"c.2659dup"	"r.2659dup"	"p.Ser887Lysfs*33"	"13"
"0000378721"	"00023993"	"99"	"2664"	"0"	"2664"	"0"	"c.2664C>G"	"r.(?)"	"p.(Tyr888*)"	"13"
"0000378722"	"00023993"	"99"	"2666"	"0"	"2666"	"0"	"c.2666T>A"	"r.(?)"	"p.(Leu889*)"	"13"
"0000378723"	"00023993"	"99"	"2675"	"0"	"2675"	"0"	"c.2675dup"	"r.(?)"	"p.(Leu892Phefs*28)"	"13"
"0000378724"	"00023993"	"99"	"2681"	"0"	"2681"	"0"	"c.2681G>A"	"r.(?)"	"p.(Trp894*)"	"13"
"0000378725"	"00023993"	"99"	"2693"	"0"	"2693"	"0"	"c.2693del"	"r.(?)"	"p.(Lys898Serfs*13)"	"13"
"0000378726"	"00023993"	"99"	"2693"	"0"	"2693"	"0"	"c.2693dup"	"r.(?)"	"p.(Tyr899Valfs*21)"	"13"
"0000378727"	"00023993"	"99"	"2590"	"0"	"2590"	"0"	"c.2590dup"	"r.(?)"	"p.(Glu864Glyfs*4)"	"13"
"0000378728"	"00023993"	"99"	"2715"	"1"	"2715"	"1"	"c.2715+1G>A"	"r.1613_2715del"	"p.Asp538Glyfs*14"	"13i"
"0000378729"	"00023993"	"99"	"2715"	"2"	"2715"	"2"	"c.2715+2T>G"	"r.spl?"	"p.?"	"13i"
"0000378730"	"00023993"	"99"	"2777"	"0"	"2777"	"0"	"c.2777A>C"	"r.(?)"	"p.(Gln926Pro)"	"14"
"0000378731"	"00023993"	"99"	"2783"	"0"	"2783"	"0"	"c.2783A>G"	"r.2783a>g"	"p.Lys928Arg"	"14"
"0000378732"	"00023993"	"99"	"2808"	"0"	"2808"	"0"	"c.2808A>G"	"r.2808_2915del"	"p.Tyr937_Met972del"	"14"
"0000378733"	"00023993"	"99"	"2821"	"0"	"2821"	"0"	"c.2821dup"	"r.(?)"	"p.(Ile941Asnfs*4)"	"14"
"0000378734"	"00023993"	"99"	"2864"	"0"	"2864"	"0"	"c.2864C>T"	"r.2864c>u"	"p.Ala955Val"	"14"
"0000378735"	"00023993"	"99"	"2866"	"0"	"2866"	"0"	"c.2866C>T"	"r.(?)"	"p.(His956Tyr)"	"14"
"0000378736"	"00023993"	"99"	"2867"	"0"	"2867"	"0"	"c.2867A>G"	"r.(?)"	"p.(His956Arg)"	"14"
"0000378737"	"00023993"	"99"	"2904"	"0"	"2904"	"0"	"c.2904A>C"	"r.(?)"	"p.(Glu968Asp)"	"14"
"0000378738"	"00023993"	"99"	"2915"	"0"	"2915"	"0"	"c.2915dup"	"r.[2915dup, 2916_3135del]"	"p.[Met972Ilefs*4, Met972Gln1045delinsIle]"	"15"
"0000378739"	"00023993"	"99"	"2947"	"0"	"2954"	"0"	"c.2947_2954dup"	"r.(?)"	"p.(Arg986Thrfs*20)"	"15"
"0000378740"	"00023993"	"99"	"2956"	"0"	"2956"	"0"	"c.2956C>T"	"r.(?)"	"p.(Arg986Cys)"	"15"
"0000392017"	"00023993"	"99"	"2957"	"0"	"2957"	"0"	"c.2957G>A"	"r.(?)"	"p.(Arg986His)"	"15"
"0000392018"	"00023993"	"99"	"2980"	"0"	"2983"	"0"	"c.2980_2983del"	"r.(?)"	"p.(Ala994Serfs*8)"	"15"
"0000392019"	"00023993"	"99"	"2990"	"0"	"2990"	"0"	"c.2990A>G"	"r.(?)"	"p.(Tyr997Cys)"	"15"
"0000392020"	"00023993"	"99"	"3002"	"0"	"3002"	"0"	"c.3002T>C"	"r.(?)"	"p.(Leu1001Pro)"	"15"
"0000392021"	"00023993"	"99"	"3053"	"0"	"3053"	"0"	"c.3053A>G"	"r.(?)"	"p.(Asp1018Gly)"	"15"
"0000392022"	"00023993"	"99"	"3053"	"0"	"3053"	"0"	"c.3053A>T"	"r.(?)"	"p.(Asp1018Val)"	"15"
"0000392023"	"00023993"	"99"	"3061"	"0"	"3061"	"0"	"c.3061C>T"	"r.(?)"	"p.(Gln1021*)"	"15"
"0000392024"	"00023993"	"99"	"3074"	"0"	"3074"	"0"	"c.3074T>C"	"r.(?)"	"p.(Leu1025Ser)"	"15"
"0000392025"	"00023993"	"99"	"3091"	"0"	"3091"	"0"	"c.3091C>T"	"r.(?)"	"p.(Arg1031*)"	"15"
"0000392026"	"00023993"	"99"	"3094"	"0"	"3094"	"0"	"c.3094del"	"r.(?)"	"p.(Thr1032Hisfs*11)"	"15"
"0000392027"	"00023993"	"99"	"3098"	"0"	"3098"	"0"	"c.3098T>C"	"r.(?)"	"p.(Leu1033Pro)"	"15"
"0000392028"	"00023993"	"99"	"3136"	"-2"	"3136"	"-2"	"c.3136-2A>G"	"r.spl?"	"p.?"	"15i"
"0000392029"	"00023993"	"99"	"3144"	"0"	"3145"	"0"	"c.3144_3145insC"	"r.(?)"	"p.(Gly1049Argfs*16)"	"16"
"0000392030"	"00023993"	"99"	"3173"	"0"	"3173"	"0"	"c.3173C>G"	"r.(?)"	"p.(Ser1058*)"	"16"
"0000392031"	"00023993"	"99"	"3231"	"0"	"3234"	"0"	"c.3231_3234dup"	"r.(?)"	"p.(Tyr1079Leufs*3)"	"16"
"0000392032"	"00023993"	"99"	"3232"	"0"	"3232"	"0"	"c.3232del"	"r.(?)"	"p.(Tyr1078Thrfs*13)"	"16"
"0000392033"	"00023993"	"99"	"3249"	"1"	"3249"	"1"	"c.3249+1G>C"	"r.spl?"	"p.?"	"16i"
"0000392034"	"00023993"	"99"	"3250"	"-2"	"3250"	"-2"	"c.3250-2A>G"	"r.3250-3335del"	"p.Phe1084Valfs*2"	"16i"
"0000392035"	"00023993"	"99"	"3252"	"0"	"3252"	"0"	"c.3252del"	"r.(?)"	"p.(Pro1085Argfs*6)"	"17"
"0000392036"	"00023993"	"99"	"3310"	"0"	"3310"	"0"	"c.3310del"	"r.(?)"	"p.(Ala1104Hisfs*22)"	"17"
"0000392037"	"00023993"	"99"	"3330"	"0"	"3330"	"0"	"c.3330dup"	"r.(?)"	"p.(Tyr1111Ilefs*2)"	"17"
"0000392038"	"00023993"	"99"	"3333"	"0"	"3333"	"0"	"c.3333T>G"	"r.(?)"	"p.(Tyr1111*)"	"17"
"0000392043"	"00023993"	"99"	"3335"	"1"	"3335"	"1"	"c.3335+1G>A"	"r.3250-3335del"	"p.Phe1084Valfs*2"	"17i"
"0000392044"	"00023993"	"99"	"3335"	"6"	"3335"	"6"	"c.3335+6T>G"	"r.3250-3335del"	"p.Phe1084Valfs*2"	"17i"
"0000392045"	"00023993"	"99"	"3336"	"-1"	"3336"	"-1"	"c.3336-1G>C"	"r.spl?"	"p.?"	"17i"
"0000392046"	"00023993"	"99"	"3336"	"-1"	"3336"	"-1"	"c.3336-1G>A"	"r.spl?"	"p.?"	"17i"
"0000392047"	"00023993"	"99"	"3389"	"0"	"3392"	"0"	"c.3389_3392delinsCTTTT"	"r.(?)"	"p.(Val1130Alafs*10)"	"18"
"0000392048"	"00023993"	"99"	"3160"	"0"	"3160"	"0"	"c.3160C>G"	"r.3160c>g"	"p.Leu1054Val"	"16"
"0000392049"	"00023993"	"99"	"3410"	"0"	"3410"	"0"	"c.3410T>A"	"r.(?)"	"p.(Leu1137*)"	"18"
"0000392050"	"00023993"	"99"	"3428"	"0"	"3428"	"0"	"c.3428dup"	"r.(?)"	"p.(Asn1143Lysfs*3)"	"18"
"0000392051"	"00023993"	"99"	"3434"	"1"	"3434"	"1"	"c.3434+1G>A"	"r.3336_3434del"	"p.Phe1113_Arg1145del"	"18i"
"0000392052"	"00023993"	"99"	"3443"	"0"	"3446"	"0"	"c.3443_3446del"	"r.3443_3446del"	"p.Val1148Alafs*2"	"19"
"0000392053"	"00023993"	"99"	"3456"	"0"	"3459"	"0"	"c.3456_3459dup"	"r.(?)"	"p.(Ile1154Glnfs*3)"	"19"
"0000392054"	"00023993"	"99"	"3458"	"0"	"3458"	"0"	"c.3458A>G"	"r.(?)"	"p.(Asn1153Ser)"	"19"
"0000392055"	"00023993"	"99"	"3474"	"0"	"3475"	"0"	"c.3474_3475del"	"r.(?)"	"p.(His1158Glnfs*15)"	"19"
"0000392056"	"00023993"	"99"	"3487"	"0"	"3490"	"0"	"c.3487_3490del"	"r.(?)"	"p.(Thr1163*)"	"19"
"0000392058"	"00023993"	"99"	"3523"	"0"	"3529"	"0"	"c.3523_3529del"	"r.3523_3529del"	"p.Met1175Profs*32"	"19"
"0000392059"	"00023993"	"99"	"3565"	"0"	"3565"	"0"	"c.3565C>T"	"r.(?)"	"p.(Arg1189*)"	"19"
"0000392060"	"00023993"	"99"	"3565"	"0"	"3566"	"0"	"c.3565_3566insA"	"r.(?)"	"p.(Arg1189Glnfs*9)"	"19"
"0000392061"	"00023993"	"99"	"3603"	"-1"	"3603"	"-1"	"c.3603-1G>A"	"r.3603-3693del"	"p.Trp1201Cysfs*2"	"19i"
"0000392062"	"00023993"	"99"	"3602"	"0"	"3602"	"0"	"c.3602G>A"	"r.(?)"	"p.(Trp1201*)"	"20"
"0000392063"	"00023993"	"99"	"3613"	"0"	"3613"	"0"	"c.3613C>T"	"r.(?)"	"p.(Arg1205*)"	"20"
"0000392064"	"00023993"	"99"	"3668"	"0"	"3670"	"0"	"c.3668_3670del"	"r.(?)"	"p.(Thr1223del)"	"20"
"0000392065"	"00023993"	"99"	"3707"	"0"	"3707"	"0"	"c.3707A>T"	"r.(?)"	"p.(Lys1236Met)"	"20"
"0000392066"	"00023993"	"99"	"3741"	"0"	"3744"	"0"	"c.3741_3744del"	"r.(?)"	"p.(Glu1248Leufs*35)"	"21"
"0000394362"	"00023993"	"99"	"3435"	"-386"	"3602"	"343"	"c.3435-386_3602+343del897"	"r.r.[3435_3602del,3435_3693del,3435_3693delins3435-546_3435-485]"	"p.[Lys1146_Trp1201del,Arg1145Serfs*2,Arg1145Serfs*16]"	"19i"
"0000394363"	"00023993"	"99"	"77"	"0"	"77"	"0"	"c.77G>A"	"r.(?)"	"p.(Gly26Asp)"	"1"
"0000394384"	"00023993"	"99"	"80"	"0"	"80"	"0"	"c.80T>A"	"r.(?)"	"p.(Val27Asp)"	"1"
"0000394385"	"00023993"	"99"	"107"	"0"	"107"	"0"	"c.107A>C"	"r.(?)"	"p.(Gln36Pro)"	"1"
"0000394386"	"00023993"	"99"	"251"	"0"	"251"	"0"	"c.251dup"	"r.(?)"	"p.(Thr85Hisfs*4)"	"3"
"0000394387"	"00023993"	"99"	"325"	"0"	"325"	"0"	"c.325G>T"	"r.(?)"	"p.(Glu109*)"	"4"
"0000394389"	"00023993"	"99"	"376"	"0"	"379"	"0"	"c.376_379del"	"r.(?)"	"p.(Leu126Serfs*4)"	"5"
"0000394390"	"00023993"	"99"	"377"	"0"	"377"	"0"	"c.377T>A"	"r.(?)"	"p.(Leu126*)"	"5"
"0000394391"	"00023993"	"99"	"613"	"0"	"613"	"0"	"c.613C>T"	"r.(?)"	"p.(Gln205*)"	"6"
"0000394392"	"00023993"	"99"	"991"	"0"	"991"	"0"	"c.991del"	"r.(?)"	"p.(Tyr331Thrfs*28)"	"9"
"0000394393"	"00023993"	"99"	"1016"	"0"	"1016"	"0"	"c.1016dup"	"r.(?)"	"p.(His339Glnfs*23)"	"9"
"0000394394"	"00023993"	"99"	"1030"	"0"	"1030"	"0"	"c.1030C>T"	"r.(?)"	"p.(Arg344Trp)"	"9"
"0000394395"	"00023993"	"99"	"1111"	"0"	"1111"	"0"	"c.1111C>T"	"r.(?)"	"p.(Gln371*)"	"9"
"0000394396"	"00023993"	"99"	"1381"	"0"	"1381"	"0"	"c.1381T>C"	"r.(?)"	"p.(Cys461Arg)"	"11"
"0000394397"	"00023993"	"99"	"1547"	"0"	"1547"	"0"	"c.1547A>G"	"r.(?)"	"p.(Asp516Gly)"	"12"
"0000394398"	"00023993"	"99"	"1583"	"0"	"1583"	"0"	"c.1583G>A"	"r.(?)"	"p.(Cys528Tyr)"	"12"
"0000394399"	"00023993"	"99"	"1609"	"0"	"1609"	"0"	"c.1609C>T"	"r.(?)"	"p.(Gln537*)"	"12"
"0000394400"	"00023993"	"99"	"1691"	"0"	"1691"	"0"	"c.1691C>G"	"r.(?)"	"p.(Pro564Arg)"	"13"
"0000394401"	"00023993"	"99"	"1779"	"0"	"1779"	"0"	"c.1779del"	"r.(?)"	"p.(Asn593Lysfs*9)"	"13"
"0000394402"	"00023993"	"99"	"1785"	"0"	"1785"	"0"	"c.1785G>A"	"r.(?)"	"p.(Trp595*)"	"13"
"0000394403"	"00023993"	"99"	"1906"	"0"	"1906"	"0"	"c.1906dup"	"r.(?)"	"p.(Arg636Lysfs*19)"	"13"
"0000394404"	"00023993"	"99"	"1943"	"0"	"1943"	"0"	"c.1943G>A"	"r.(?)"	"p.(Gly648Asp)"	"13"
"0000394405"	"00023993"	"99"	"1946"	"0"	"1946"	"0"	"c.1946dup"	"r.(?)"	"p.(Tyr649*)"	"13"
"0000394406"	"00023993"	"99"	"1947"	"0"	"1947"	"0"	"c.1947C>A"	"r.(?)"	"p.(Tyr649*)"	"13"
"0000394407"	"00023993"	"99"	"2174"	"0"	"2174"	"0"	"c.2174T>A"	"r.(?)"	"p.(Leu725*)"	"13"
"0000394408"	"00023993"	"99"	"2250"	"0"	"2253"	"0"	"c.2250_2253del"	"r.(?)"	"p.(Asn750Lysfs*3)"	"13"
"0000394409"	"00023993"	"99"	"2296"	"0"	"2296"	"0"	"c.2296C>T"	"r.(?)"	"p.(Gln766*)"	"13"
"0000394410"	"00023993"	"99"	"2444"	"0"	"2446"	"0"	"c.2444_2446dup"	"r.(?)"	"p.(Phe816*)"	"13"
"0000394411"	"00023993"	"99"	"2701"	"0"	"2701"	"0"	"c.2701C>T"	"r.(?)"	"p.(Gln901*)"	"13"
"0000394412"	"00023993"	"99"	"2854"	"0"	"2854"	"0"	"c.2854A>T"	"r.(?)"	"p.(Lys952*)"	"14"
"0000394413"	"00023993"	"99"	"2972"	"0"	"2972"	"0"	"c.2972T>G"	"r.(?)"	"p.(Met991Arg)"	"15"
"0000394414"	"00023993"	"99"	"3419"	"0"	"3420"	"0"	"c.3419_3420del"	"r.(?)"	"p.(Ile1140Lysfs*5)"	"18"
"0000394415"	"00023993"	"99"	"3458"	"0"	"3460"	"0"	"c.3458_3460del"	"r.(?)"	"p.(Asn1153del)"	"19"
"0000394416"	"00023993"	"99"	"3564"	"0"	"3564"	"0"	"c.3564T>A"	"r.(?)"	"p.(Tyr1188*)"	"19"
"0000394417"	"00023993"	"99"	"3720"	"0"	"3720"	"0"	"c.3720del"	"r.(?)"	"p.(Arg1242Glufs*42)"	"21"
"0000394418"	"00023993"	"99"	"1285"	"-13"	"1285"	"-13"	"c.1285-13G>A"	"r.(=)"	"p.(=)"	"10i"
"0000394420"	"00023993"	"99"	"2916"	"-9"	"2916"	"-9"	"c.2916-9T>G"	"r.(=)"	"p.(=)"	"14i"
"0000394421"	"00023993"	"99"	"3335"	"14"	"3335"	"14"	"c.3335+14G>A"	"r.(=)"	"p.(=)"	"17i"
"0000394424"	"00023993"	"99"	"555"	"0"	"556"	"0"	"c.555_556ins[U14569.1:g.1_288]"	"r.555_556ins[[U14569.1:g.1_288inv];540_555]"	"p.Glu123*"	"5"
"0000404765"	"00023993"	"77"	"70"	"0"	"70"	"0"	"c.70T>G"	"r.(?)"	"p.(Phe24Val)"	"1"
"0000404766"	"00023993"	"99"	"323"	"1"	"323"	"1"	"c.323+1G>A"	"r.204_323del"	"p.Leu69_Arg108del"	"3i"
"0000404767"	"00023993"	"99"	"83"	"0"	"83"	"0"	"c.83T>A"	"r.(?)"	"p.(Val28Asp)"	"1"
"0000404768"	"00023993"	"99"	"2956"	"0"	"2956"	"0"	"c.2956C>G"	"r.(?)"	"p.(Arg986Gly)"	"15"
"0000404769"	"00023993"	"99"	"244"	"0"	"244"	"0"	"c.244del"	"r.(?)"	"p.(Val82*)"	"3"
"0000404770"	"00023993"	"99"	"3604"	"0"	"3693"	"1"	"c.3604_3693+1del"	"r.spl?"	"p.(Trp1201Cysfs*2)"	"20"
"0000405685"	"00023993"	"99"	"1314"	"0"	"1315"	"0"	"c.1314_1315del"	"r.(?)"	"p.(Ala439Argfs*9)"	"11"
"0000405697"	"00023993"	"97"	"571"	"0"	"571"	"0"	"c.571G>A"	"r.(?)"	"p.(Val191Ile)"	"5"
"0000405884"	"00023993"	"99"	"1165"	"0"	"1165"	"0"	"c.1165G>A"	"r.(?)"	"p.(Glu389Lys)"	"10"
"0000405885"	"00023993"	"99"	"1222"	"0"	"1222"	"0"	"c.1222G>A"	"r.(?)"	"p.(Asp408Asn)"	"10"
"0000410669"	"00023993"	"97"	"1"	"0"	"1"	"0"	"c.1A>G"	"r.(?)"	"p.(Met1?)"	"1"
"0000410670"	"00023993"	"99"	"516"	"0"	"516"	"0"	"c.516dup"	"r.(?)"	"p.(Pro173Thrfs*14)"	"5"
"0000410672"	"00023993"	"99"	"879"	"0"	"879"	"0"	"c.879dup"	"r.(?)"	"p.(Glu294Argfs*20)"	"8"
"0000410673"	"00023993"	"97"	"1364"	"0"	"1364"	"0"	"c.1364C>T"	"r.(?)"	"p.(Ala455Val)"	"11"
"0000414018"	"00023993"	"99"	"3042"	"0"	"3042"	"0"	"c.3042dup"	"r.(?)"	"p.(Asp1015*)"	"15"
"0000414019"	"00023993"	"99"	"3149"	"0"	"3149"	"0"	"c.3149del"	"r.(?)"	"p.(Leu1050Argfs*5)"	"16"
"0000414020"	"00023993"	"99"	"3162"	"0"	"3172"	"0"	"c.3162_3172del"	"r.(?)"	"p.(Ile1055Lysfs*6)"	"16"
"0000414021"	"00023993"	"99"	"3216"	"0"	"3216"	"0"	"c.3216dup"	"r.(?)"	"p.(Pro1073Thrfs*8)"	"16"
"0000414022"	"00023993"	"97"	"3414"	"0"	"3416"	"0"	"c.3414_3416dup"	"r.(?)"	"p.(Asp1139dup)"	"18"
"0000414023"	"00023993"	"99"	"3486"	"0"	"3487"	"0"	"c.3486_3487dup"	"r.(?)"	"p.(Thr1163Argfs*3)"	"19"
"0000414024"	"00023993"	"99"	"3532"	"0"	"3532"	"0"	"c.3532del"	"r.(?)"	"p.(Ile1178Tyrfs*31)"	"19"
"0000414025"	"00023993"	"99"	"3560"	"0"	"3561"	"0"	"c.3560_3561del"	"r.(?)"	"p.(Glu1187Valfs*10)"	"19"
"0000454347"	"00023993"	"99"	"3663"	"0"	"3663"	"0"	"c.3663del"	"r.(?)"	"p.(Met1221Ilefs*12)"	"20"
"0000546198"	"00023993"	"30"	"3655"	"0"	"3655"	"0"	"c.3655T>C"	"r.(?)"	"p.(Leu1219=)"	""
"0000546200"	"00023993"	"50"	"3598"	"0"	"3598"	"0"	"c.3598G>A"	"r.(?)"	"p.(Glu1200Lys)"	""
"0000546201"	"00023993"	"30"	"3598"	"0"	"3598"	"0"	"c.3598G>A"	"r.(?)"	"p.(Glu1200Lys)"	""
"0000546202"	"00023993"	"70"	"3503"	"0"	"3504"	"0"	"c.3503_3504del"	"r.(?)"	"p.(Leu1168GlnfsTer5)"	""
"0000546203"	"00023993"	"10"	"3136"	"-150"	"3136"	"-149"	"c.3136-150_3136-149insAG"	"r.(=)"	"p.(=)"	""
"0000546204"	"00023993"	"50"	"2900"	"0"	"2900"	"0"	"c.2900A>G"	"r.(?)"	"p.(Gln967Arg)"	""
"0000546205"	"00023993"	"90"	"2815"	"0"	"2821"	"0"	"c.2815_2821del"	"r.(?)"	"p.(Asn939PhefsTer2)"	""
"0000546208"	"00023993"	"30"	"1931"	"0"	"1931"	"0"	"c.1931C>T"	"r.(?)"	"p.(Thr644Ile)"	""
"0000546209"	"00023993"	"30"	"1726"	"0"	"1726"	"0"	"c.1726G>A"	"r.(?)"	"p.(Val576Ile)"	""
"0000546210"	"00023993"	"10"	"1626"	"0"	"1626"	"0"	"c.1626A>G"	"r.(?)"	"p.(Glu542=)"	""
"0000546211"	"00023993"	"30"	"1269"	"0"	"1269"	"0"	"c.1269C>T"	"r.(?)"	"p.(His423=)"	""
"0000546213"	"00023993"	"30"	"933"	"5"	"933"	"5"	"c.933+5G>A"	"r.spl?"	"p.?"	""
"0000546214"	"00023993"	"30"	"842"	"0"	"842"	"0"	"c.842A>G"	"r.(?)"	"p.(Asn281Ser)"	""
"0000546216"	"00023993"	"30"	"137"	"0"	"137"	"0"	"c.137G>A"	"r.(?)"	"p.(Arg46Gln)"	""
"0000613799"	"00023993"	"30"	"2748"	"0"	"2748"	"0"	"c.2748C>T"	"r.(?)"	"p.(Tyr916=)"	""
"0000613800"	"00023993"	"50"	"1960"	"0"	"1960"	"0"	"c.1960A>G"	"r.(?)"	"p.(Ser654Gly)"	""
"0000613801"	"00023993"	"30"	"866"	"0"	"866"	"0"	"c.866C>G"	"r.(?)"	"p.(Thr289Ser)"	""
"0000613802"	"00023993"	"50"	"355"	"0"	"355"	"0"	"c.355A>G"	"r.(?)"	"p.(Thr119Ala)"	""
"0000648428"	"00023993"	"90"	"3503"	"0"	"3504"	"0"	"c.3503_3504del"	"r.(?)"	"p.(Leu1168Glnfs*5)"	""
"0000679378"	"00023993"	"50"	"1818"	"0"	"1818"	"0"	"c.1818G>A"	"r.(?)"	"p.(Met606Ile)"	""
"0000723787"	"00023993"	"30"	"2613"	"0"	"2613"	"0"	"c.2613C>T"	"r.(?)"	"p.(Gly871=)"	""
"0000723788"	"00023993"	"30"	"1433"	"0"	"1433"	"0"	"c.1433T>C"	"r.(?)"	"p.(Ile478Thr)"	""
"0000723789"	"00023993"	"30"	"771"	"7"	"771"	"7"	"c.771+7A>C"	"r.(=)"	"p.(=)"	""
"0000723790"	"00023993"	"30"	"609"	"0"	"609"	"0"	"c.609C>G"	"r.(?)"	"p.(Ser203Arg)"	""
"0000723791"	"00023993"	"90"	"324"	"-2"	"324"	"-2"	"c.324-2A>G"	"r.spl?"	"p.?"	""
"0000729965"	"00023993"	"90"	"3501"	"0"	"3502"	"0"	"c.3501_3502del"	"r.(?)"	"p.(Leu1168Glnfs*5)"	""
"0000729966"	"00023993"	"90"	"3653"	"0"	"3653"	"0"	"c.3653del"	"r.(?)"	"p.(Thr1218Asnfs*2)"	""
"0000730504"	"00023993"	"99"	"2757"	"0"	"2758"	"0"	"c.2757_2758del"	"r.(?)"	"p.(Asp919Glufs*21)"	""
"0000805491"	"00023993"	"30"	"3197"	"0"	"3197"	"0"	"c.3197C>T"	"r.(?)"	"p.(Thr1066Met)"	""
"0000805492"	"00023993"	"90"	"2715"	"1"	"2715"	"1"	"c.2715+1G>A"	"r.spl?"	"p.?"	""
"0000805493"	"00023993"	"30"	"1613"	"-3"	"1613"	"-3"	"c.1613-3T>C"	"r.spl?"	"p.?"	""
"0000805494"	"00023993"	"50"	"1169"	"0"	"1169"	"0"	"c.1169G>A"	"r.(?)"	"p.(Ser390Asn)"	""
"0000805495"	"00023993"	"30"	"1042"	"0"	"1042"	"0"	"c.1042A>C"	"r.(?)"	"p.(Ile348Leu)"	""
"0000853228"	"00023993"	"50"	"112"	"0"	"112"	"0"	"c.112G>C"	"r.(?)"	"p.(Gly38Arg)"	""
"0000862759"	"00023993"	"30"	"3603"	"-3"	"3603"	"-3"	"c.3603-3C>T"	"r.spl?"	"p.?"	""
"0000862760"	"00023993"	"30"	"3598"	"0"	"3598"	"0"	"c.3598G>A"	"r.(?)"	"p.(Glu1200Lys)"	""
"0000862761"	"00023993"	"30"	"2257"	"0"	"2257"	"0"	"c.2257A>T"	"r.(?)"	"p.(Ile753Leu)"	""
"0000862762"	"00023993"	"50"	"1052"	"0"	"1052"	"0"	"c.1052A>G"	"r.(?)"	"p.(Asn351Ser)"	""
"0000881291"	"00023993"	"70"	"569"	"0"	"569"	"0"	"c.569A>T"	"r.(?)"	"p.(Asp190Val)"	""
"0000881364"	"00023993"	"90"	"2868"	"0"	"2869"	"0"	"c.2868_2869del"	"r.(?)"	"p.(Met957AlafsTer5)"	""
"0000913730"	"00023993"	"10"	"1482"	"0"	"1482"	"0"	"c.1482G>A"	"r.(?)"	"p.(Gln494=)"	""
"0000949822"	"00023993"	"50"	"512"	"0"	"512"	"0"	"c.512C>T"	"r.(?)"	"p.(Ala171Val)"	""
"0000979963"	"00023993"	"30"	"3602"	"10"	"3602"	"10"	"c.3602+10C>T"	"r.(=)"	"p.(=)"	""
"0000979964"	"00023993"	"90"	"1123"	"0"	"1123"	"0"	"c.1123C>T"	"r.(?)"	"p.(Arg375Ter)"	""
"0000999564"	"00023993"	"50"	"516"	"0"	"516"	"0"	"c.516dup"	"r.(?)"	"p.(Pro173Thrfs*14)"	""
"0001012399"	"00023993"	"90"	"2354"	"0"	"2354"	"0"	"c.2354T>G"	"r.(?)"	"p.(Leu785Trp)"	""
"0001012403"	"00023993"	"90"	"3741"	"0"	"3744"	"0"	"c.3741_3744del"	"r.(?)"	"p.(Glu1248LeufsTer35)"	""
"0001012439"	"00023993"	"90"	"1774"	"0"	"1774"	"0"	"c.1774G>A"	"r.(?)"	"p.(Ala592Thr)"	""
"0001012483"	"00023993"	"90"	"616"	"0"	"619"	"0"	"c.616_619del"	"r.(?)"	"p.(Thr206TyrfsTer6)"	""
"0001012484"	"00023993"	"90"	"136"	"0"	"136"	"0"	"c.136C>T"	"r.(?)"	"p.(Arg46Ter)"	""
"0001012485"	"00023993"	"90"	"835"	"0"	"835"	"0"	"c.835G>T"	"r.(?)"	"p.(Glu279Ter)"	""
"0001012486"	"00023993"	"90"	"2956"	"0"	"2956"	"0"	"c.2956C>T"	"r.(?)"	"p.(Arg986Cys)"	""
"0001012487"	"00023993"	"90"	"1567"	"0"	"1567"	"0"	"c.1567T>C"	"r.(?)"	"p.(Cys523Arg)"	""
"0001014890"	"00023993"	"90"	"3503"	"0"	"3504"	"0"	"c.3503_3504del"	"r.(?)"	"p.(Leu1168GlnfsTer5)"	""
"0001014891"	"00023993"	"90"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364Ter)"	""
"0001038874"	"00023993"	"50"	"3700"	"0"	"3700"	"0"	"c.3700G>A"	"r.(?)"	"p.(Ala1234Thr)"	""
"0001038875"	"00023993"	"50"	"3388"	"0"	"3388"	"0"	"c.3388G>A"	"r.(?)"	"p.(Val1130Ile)"	""
"0001038876"	"00023993"	"50"	"1885"	"0"	"1885"	"0"	"c.1885A>G"	"r.(?)"	"p.(Ile629Val)"	""
"0001038877"	"00023993"	"50"	"1429"	"0"	"1429"	"0"	"c.1429T>G"	"r.(?)"	"p.(Tyr477Asp)"	""
"0001038878"	"00023993"	"50"	"950"	"0"	"950"	"0"	"c.950A>T"	"r.(?)"	"p.(Asp317Val)"	""
"0001038879"	"00023993"	"90"	"771"	"0"	"771"	"0"	"c.771G>A"	"r.(?)"	"p.(=)"	""
"0001038880"	"00023993"	"50"	"707"	"0"	"707"	"0"	"c.707C>A"	"r.(?)"	"p.(Thr236Lys)"	""
"0001038881"	"00023993"	"30"	"572"	"-7"	"572"	"-7"	"c.572-7G>A"	"r.(=)"	"p.(=)"	""
"0001049066"	"00023993"	"90"	"1017"	"0"	"1020"	"0"	"c.1017_1020dup"	"r.(?)"	"p.(Pro341CysfsTer22)"	""
"0001049077"	"00023993"	"90"	"1001"	"0"	"1001"	"0"	"c.1001G>A"	"r.(?)"	"p.(Arg334Gln)"	""
"0001054450"	"00023993"	"90"	"3335"	"6"	"3335"	"6"	"c.3335+6T>G"	"r.(=)"	"p.(=)"	""
"0001054451"	"00023993"	"50"	"3110"	"0"	"3110"	"0"	"c.3110T>C"	"r.(?)"	"p.(Ile1037Thr)"	""
"0001054452"	"00023993"	"50"	"3092"	"0"	"3092"	"0"	"c.3092G>A"	"r.(?)"	"p.(Arg1031Gln)"	""
"0001054453"	"00023993"	"50"	"2921"	"0"	"2921"	"0"	"c.2921C>T"	"r.(?)"	"p.(Pro974Leu)"	""
"0001054454"	"00023993"	"90"	"2715"	"2"	"2715"	"2"	"c.2715+2T>G"	"r.spl?"	"p.?"	""
"0001054455"	"00023993"	"90"	"1196"	"0"	"1196"	"0"	"c.1196C>T"	"r.(?)"	"p.(Ser399Phe)"	""
"0001054456"	"00023993"	"90"	"1090"	"0"	"1090"	"0"	"c.1090C>T"	"r.(?)"	"p.(Arg364Ter)"	""
"0001058740"	"00023993"	"90"	"3503"	"0"	"3504"	"0"	"c.3503_3504del"	"r.(?)"	"p.(Leu1168GlnfsTer5)"	""
"0001058741"	"00023993"	"90"	"1123"	"0"	"1123"	"0"	"c.1123C>T"	"r.(?)"	"p.(Arg375Ter)"	""
"0001058742"	"00023993"	"90"	"3503"	"0"	"3504"	"0"	"c.3503_3504del"	"r.(?)"	"p.(Leu1168GlnfsTer5)"	""
"0001058743"	"00023993"	"90"	"2072"	"0"	"2073"	"0"	"c.2072_2073insG"	"r.(?)"	"p.(Glu692ArgfsTer56)"	""
"0001059659"	"00023993"	"70"	"1134"	"0"	"1134"	"0"	"c.1134C>G"	"r.(?)"	"p.(Ser378Arg)"	""
"0001059660"	"00023993"	"70"	"518"	"0"	"518"	"0"	"c.518del"	"r.(?)"	"p.(Pro173GlnfsTer40)"	""
"0001059661"	"00023993"	"70"	"1196"	"0"	"1196"	"0"	"c.1196C>T"	"r.(?)"	"p.(Ser399Phe)"	""
"0001059722"	"00023993"	"70"	"3613"	"0"	"3613"	"0"	"c.3613C>T"	"r.(?)"	"p.(Arg1205Ter)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 61
"{{screeningid}}"	"{{variantid}}"
"0000000014"	"0000000274"
"0000000014"	"0000000275"
"0000000034"	"0000000273"
"0000000034"	"0000000276"
"0000000054"	"0000000277"
"0000034647"	"0000061766"
"0000034648"	"0000061767"
"0000034649"	"0000061768"
"0000034650"	"0000061769"
"0000034651"	"0000061770"
"0000034652"	"0000061771"
"0000034653"	"0000061772"
"0000034654"	"0000061773"
"0000034655"	"0000061774"
"0000034656"	"0000061775"
"0000034657"	"0000061776"
"0000034658"	"0000061777"
"0000034659"	"0000061778"
"0000034660"	"0000061779"
"0000034661"	"0000061780"
"0000034662"	"0000061781"
"0000034663"	"0000061782"
"0000034664"	"0000061783"
"0000037521"	"0000064646"
"0000037522"	"0000064647"
"0000037523"	"0000064648"
"0000037524"	"0000064649"
"0000037525"	"0000064650"
"0000037526"	"0000064651"
"0000037527"	"0000064652"
"0000037528"	"0000064653"
"0000037529"	"0000064654"
"0000037530"	"0000064655"
"0000037980"	"0000065290"
"0000165921"	"0000369752"
"0000168915"	"0000375700"
"0000168915"	"0000375701"
"0000291739"	"0000648428"
"0000332683"	"0000729965"
"0000332684"	"0000729966"
"0000333081"	"0000730504"
"0000420932"	"0000881291"
"0000420932"	"0000881364"
"0000457852"	"0001012399"
"0000457852"	"0001012439"
"0000457856"	"0001012403"
"0000457918"	"0001012483"
"0000457919"	"0001012484"
"0000457920"	"0001012485"
"0000457921"	"0001012486"
"0000457922"	"0001012487"
"0000468972"	"0001049066"
"0000468972"	"0001049077"
"0000470618"	"0001058740"
"0000470619"	"0001058741"
"0000470620"	"0001058742"
"0000470621"	"0001058743"
"0000471511"	"0001059659"
"0000471512"	"0001059660"
"0000471512"	"0001059722"
"0000471513"	"0001059661"