### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NPHS1)
# 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}}"
"NPHS1"	"nephrosis 1, congenital, Finnish type (nephrin)"	"19"	"q12-q13.1"	"unknown"	"NG_013356.2"	"UD_132048705152"	""	"https://www.LOVD.nl/NPHS1"	"Finnish Disease Database (FinDis) <http://www.findis.org/>"	"1"	"7908"	"4868"	"602716"	"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.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of <b>Juha Muilu</b> acting as curator until 2015."	""	"g"	"http://databases.lovd.nl/shared/refseq/NPHS1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2019-07-21 20:36:04"	"00000"	"2025-07-08 13:22:38"


## 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}}"
"00000050"	"NPHS1"	"nephrosis 1, congenital, Finnish type (nephrin)"	"001"	"NM_004646.3"	""	"NP_004637.1"	""	""	""	"-156"	"4868"	"3726"	"36342895"	"36316274"	"00002"	"2012-05-11 13:11:56"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00074"	"NPHS1"	"nephrotic syndrome, type 1 (NPHS-1, Finnish congenital nephrosis (CNF))"	"AR"	"256300"	""	""	""	"00015"	"2012-11-09 14:39:22"	"00006"	"2021-12-10 21:51:32"
"00114"	"GA1"	"glutaricaciduria, type 1 (GA-1)"	"AR"	"231670"	""	"autosomal recessive"	""	"00008"	"2013-03-06 12:48:45"	"00006"	"2021-12-10 21:51:32"
"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"
"00296"	"CTRCT"	"cataract (CTRCT)"	""	""	""	""	""	"00006"	"2014-01-16 08:42:13"	"00006"	"2015-03-07 14:30:33"
"00399"	"NPHS"	"nephrotic syndrome (NPHS)"	""	""	""	""	""	"00006"	"2014-06-06 10:05:35"	"00006"	"2018-07-03 16:45:22"
"01617"	"ABL"	"abetalipoproteinaemia (ABL)"	"AR"	"200100"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04267"	"-"	"glaucoma"	""	""	""	""	""	"00006"	"2015-05-14 15:50:28"	""	""
"05378"	"BMD/DMD"	"dystrophinopathy (BMD or DMD)"	""	""	""	""	""	"00006"	"2018-01-13 20:18:25"	"00006"	"2019-03-26 16:49:54"
"05427"	"ADPKD"	"kidney, polycystic, disease, autosomal dominant (ADPKD)"	""	""	""	""	""	"00006"	"2018-05-08 22:37:08"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"NPHS1"	"00074"
"NPHS1"	"00399"


## Individuals ## Do not remove or alter this header ##
## Count = 104
"{{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}}"
"00000004"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000007"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000008"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000009"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000012"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000014"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000015"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000016"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000017"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000018"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000020"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000022"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000024"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000025"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000026"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000027"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000028"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000031"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000037"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000039"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000041"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000042"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000043"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000046"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000047"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000048"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000051"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000052"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000054"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000055"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000056"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000057"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000058"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000059"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000060"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000062"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000063"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000065"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000066"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	"0"	""	""	""	""
"00000067"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000068"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000069"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000072"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000074"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000076"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000077"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000078"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000079"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000080"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000081"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000083"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000084"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000088"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000090"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000092"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000094"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	"Coriell sample"	""	""	""	""	"0"	""	""	""	""
"00000095"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000100"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000101"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000107"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00017906"	""	""	""	"1"	""	"00746"	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00017907"	""	""	""	"1"	""	"00746"	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00018452"	""	""	""	"1"	""	"00746"	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00018845"	""	""	""	"1"	""	"00746"	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00019409"	""	""	""	"1"	""	"00746"	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00019411"	""	""	""	"1"	""	"00746"	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00019413"	""	""	""	"1"	""	"00746"	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00019917"	""	""	""	"1"	""	"00746"	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Spain"	""	"0"	""	""	""	""
"00025020"	""	""	""	"1"	""	"01161"	""	"2-generation family, 2 affecteds, patient I.2"	"F"	"yes"	"Germany"	""	"0"	""	""	"white"	""
"00025118"	""	""	""	"1"	""	"01161"	""	"2-generation family, sister of PatI.2"	"F"	"yes"	"Germany"	""	"0"	""	""	"white"	""
"00025124"	""	""	""	"1"	""	"01161"	""	"Father of 00025020 and 00025118"	"M"	"?"	"Germany"	""	"0"	""	""	"white"	""
"00025125"	""	""	""	"1"	""	"01161"	""	"Mother of 00025020 and 00025118"	"F"	"?"	"Germany"	""	"0"	""	""	"white"	""
"00032340"	""	""	""	"1"	""	"00006"	"{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}"	"patient, unaffected heterozygous carrier parents"	""	"?"	"United States"	"00y07m"	"0"	""	""	""	""
"00050595"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00054892"	""	""	""	"1"	""	"01239"	""	""	""	""	""	""	"0"	""	""	"Hispanic"	""
"00226216"	""	""	""	"1"	""	"00006"	"{PMID:Aya 2000:10652016}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	""	""	"Japan"	""	"0"	""	""	""	"Pat1"
"00292083"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292084"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292085"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292086"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292087"	""	""	""	"9"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292088"	""	""	""	"13"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292089"	""	""	""	"123"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292090"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292091"	""	""	""	"17"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292092"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292093"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292094"	""	""	""	"19"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292095"	""	""	""	"7"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00301406"	""	""	""	"1"	""	"01807"	""	""	"?"	""	"(Germany)"	""	"0"	""	""	""	""
"00304656"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00306210"	""	""	""	"1"	""	"03695"	""	""	"M"	""	"China"	""	""	""	""	""	"109"
"00308758"	""	""	""	"1"	""	"00004"	"{PMID:Le 2019:31180159}"	"analysis 305 unrelated individuals"	""	""	"Viet Nam"	""	"0"	""	""	""	""
"00308759"	""	""	""	"1"	""	"00004"	"{PMID:Le 2019:31180159}"	"analysis 305 unrelated individuals"	""	""	"Viet Nam"	""	"0"	""	""	""	""
"00308760"	""	""	""	"1"	""	"00004"	"{PMID:Le 2019:31180159}"	"analysis 305 unrelated individuals"	""	""	"Viet Nam"	""	"0"	""	""	""	""
"00308761"	""	""	""	"1"	""	"00004"	"{PMID:Le 2019:31180159}"	"analysis 305 unrelated individuals"	""	""	"Viet Nam"	""	"0"	""	""	""	""
"00314940"	""	""	""	"1"	""	"02461"	"{PMID:Abid 2018:30013592}, {DOI:Abid 2018:10.3389/fgene.2018.00214}"	"family history"	"M"	""	"Pakistan"	""	"0"	""	""	""	"NS301"
"00314954"	""	""	""	"1"	""	"02461"	"{PMID:Abid 2018:30013592}, {DOI:Abid 2018:10.3389/fgene.2018.00214}"	"family history"	"M"	""	"Pakistan"	""	"0"	""	""	""	"NS1401"
"00380420"	""	""	""	"1"	""	"04152"	""	""	"?"	""	"Malaysia"	""	""	""	""	""	"DRAGoN_62"
"00414704"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA01210"
"00414705"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA01899"
"00419666"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"M"	""	"Greece"	""	"0"	""	""	""	"20094"
"00448549"	""	""	""	"1"	""	"03676"	""	""	"M"	"no"	"Egypt"	""	""	""	""	""	""
"00457804"	""	""	""	"1"	""	"03544"	""	""	"F"	"-"	"- (not applicable)"	""	""	""	""	"white"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 63
"{{individualid}}"	"{{diseaseid}}"
"00000012"	"00138"
"00000012"	"05378"
"00000014"	"00138"
"00000014"	"05378"
"00000015"	"00138"
"00000015"	"05378"
"00000016"	"00138"
"00000016"	"05378"
"00000017"	"00138"
"00000017"	"05378"
"00000018"	"00138"
"00000018"	"05378"
"00000022"	"05378"
"00000024"	"05378"
"00000025"	"05378"
"00000039"	"05427"
"00000054"	"01617"
"00000094"	"00114"
"00000101"	"04214"
"00017906"	"00074"
"00017907"	"00074"
"00018452"	"00399"
"00018845"	"00399"
"00019409"	"00399"
"00019411"	"00399"
"00019413"	"00399"
"00019917"	"00074"
"00025020"	"00296"
"00025118"	"00296"
"00025124"	"00000"
"00025125"	"00000"
"00032340"	"00198"
"00050595"	"00198"
"00054892"	"04267"
"00226216"	"00399"
"00292083"	"00198"
"00292084"	"00198"
"00292085"	"00198"
"00292086"	"00198"
"00292087"	"00198"
"00292088"	"00198"
"00292089"	"00198"
"00292090"	"00198"
"00292091"	"00198"
"00292092"	"00198"
"00292093"	"00198"
"00292094"	"00198"
"00292095"	"00198"
"00301406"	"00198"
"00304656"	"00198"
"00306210"	"00074"
"00308758"	"00000"
"00308759"	"00000"
"00308760"	"00000"
"00308761"	"00000"
"00314940"	"00399"
"00314954"	"00399"
"00380420"	"00399"
"00414704"	"04214"
"00414705"	"04214"
"00419666"	"00198"
"00448549"	"00399"
"00457804"	"00399"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00074, 00114, 00138, 00198, 00296, 00399, 01617, 04214, 04267, 05378, 05427
## Count = 24
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Biochem_param}}"	"{{Phenotype/enzyme_act}}"	"{{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}}"
"0000015274"	"00187"	"00000004"	"00124"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000016802"	"00074"	"00017906"	"00746"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000016803"	"00074"	"00017907"	"00746"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000017014"	"00399"	"00018845"	"00746"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000017212"	"00399"	"00019411"	"00746"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000017214"	"00399"	"00019413"	"00746"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000017689"	"00399"	"00018452"	"00746"	"Familial, autosomal recessive"	""	"congenital nephrotic syndrome, haematuria"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000017691"	"00074"	"00019917"	"00746"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000021234"	"00296"	"00025020"	"01161"	"Familial, autosomal recessive"	""	"complete bilateral dense white autosomal recessive congenital cataract"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000021235"	"00296"	"00025118"	"01161"	"Familial, autosomal recessive"	""	"complete bilateral dense white autosomal recessive congenital cataract"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025806"	"00198"	"00032340"	"00006"	"Isolated (sporadic)"	""	"see paper; cerebral ventriculomegaly, echogenic kidneys with histopathological findings of congenital nephrosis, .."	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000037207"	"00198"	"00050595"	"00006"	"Isolated (sporadic)"	""	"nephrotic syndrome, specific learning disability, macrocephaly  postnatal, hemiplegia"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000045730"	"04267"	"00054892"	"01239"	"Isolated (sporadic)"	""	"congenital glaucoma, nephrotic syndrome, developmental delay, short stature, feeding difficulties"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000154673"	"01617"	"00000054"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	""	"ABL"	"abetalipoproteinaemia"	""
"0000171341"	"00399"	"00226216"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000228584"	"00198"	"00301406"	"01807"	"Unknown"	""	"Prelingual sensorineural hearing impairment (HP:0000399); Thickened nuchal skin fold (HP:0000474); Delayed speech and language development (HP:0000750); Seizures (HP:0001250); Decreased antibody level in blood (HP:0004313); Relative macrocephaly (HP:0004482); Diffuse white matter abnormalities (HP:0007204); Congenital nephrotic syndrome (HP:0008677); Ureter duplex (HP:0012572)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000232058"	"00074"	"00306210"	"03695"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000238699"	"00399"	"00314940"	"02461"	"Familial, autosomal recessive"	""	"steroid resistant nephrotic syndrome; no response"	""	""	""	""	""	""	""	""	""	""	"NPHS1"	"nephrotic syndrome"	""
"0000238713"	"00399"	"00314954"	"02461"	"Familial"	""	"biopsy focal segmental glomerular sclerosis; steroid resistant nephrotic syndrome; end stage renal disease"	""	""	"14y"	""	""	""	""	""	""	""	""	"nephrotic syndrome"	""
"0000278359"	"04214"	"00000101"	"00000"	"Familial, autosomal dominant"	"64y"	"diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization"	""	""	"55y"	""	""	""	""	""	""	""	""	"Sorsby fundus dystrophy"	""
"0000306499"	"04214"	"00414704"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"galactosemia"	""	""
"0000306500"	"04214"	"00414705"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"Lesch-Nyhan syndrome"	""	""
"0000310947"	"00198"	"00419666"	"02300"	"Unknown"	"15y"	"renal failure, nephrotic syndrome, focal segmental glomerulosclerosis (FSGS), splenomegaly, cardiomyopathy, beta-thalassemia"	""	""	""	""	""	""	""	""	""	""	""	"renal abnormality"	""
"0000346253"	"00399"	"00457804"	"03544"	"Isolated (sporadic)"	""	"HP:0000100"	""	""	""	""	""	""	""	""	""	""	"NPHS1"	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 104
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000004"	"00000004"	"1"	"00004"	""	"2012-05-11 13:18:36"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000007"	"00000007"	"1"	"00004"	""	"2012-05-11 13:18:37"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000008"	"00000008"	"1"	"00004"	""	"2012-05-11 13:18:37"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000009"	"00000009"	"1"	"00004"	""	"2012-05-11 13:18:37"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000012"	"00000012"	"1"	"00004"	""	"2012-05-11 13:18:38"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000014"	"00000014"	"1"	"00004"	""	"2012-05-11 13:18:39"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000015"	"00000015"	"1"	"00004"	""	"2012-05-11 13:18:39"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000016"	"00000016"	"1"	"00004"	""	"2012-05-11 13:18:39"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000017"	"00000017"	"1"	"00004"	""	"2012-05-11 13:18:40"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000018"	"00000018"	"1"	"00004"	""	"2012-05-11 13:18:40"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000020"	"00000020"	"1"	"00004"	""	"2012-05-11 13:18:40"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000022"	"00000022"	"1"	"00004"	""	"2012-05-11 13:18:41"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000024"	"00000024"	"1"	"00004"	""	"2012-05-11 13:18:41"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000025"	"00000025"	"1"	"00004"	""	"2012-05-11 13:18:41"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000026"	"00000026"	"1"	"00004"	""	"2012-05-11 13:18:42"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000027"	"00000027"	"1"	"00004"	""	"2012-05-11 13:18:42"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000028"	"00000028"	"1"	"00004"	""	"2012-05-11 13:18:42"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000031"	"00000031"	"1"	"00004"	""	"2012-05-11 13:18:43"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000037"	"00000037"	"1"	"00004"	""	"2012-05-11 13:18:44"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000039"	"00000039"	"1"	"00004"	""	"2012-05-11 13:18:46"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000041"	"00000041"	"1"	"00004"	""	"2012-05-11 13:18:46"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000042"	"00000042"	"1"	"00004"	""	"2012-05-11 13:18:46"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000043"	"00000043"	"1"	"00004"	""	"2012-05-11 13:18:47"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000046"	"00000046"	"1"	"00004"	""	"2012-05-11 13:18:48"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000047"	"00000047"	"1"	"00004"	""	"2012-05-11 13:18:48"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000048"	"00000048"	"1"	"00004"	""	"2012-05-11 13:18:48"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000051"	"00000051"	"1"	"00004"	""	"2012-05-11 13:18:50"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000052"	"00000052"	"1"	"00004"	""	"2012-05-11 13:18:50"	"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"	""	""
"0000000055"	"00000055"	"1"	"00004"	""	"2012-05-11 13:18:51"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000056"	"00000056"	"1"	"00004"	""	"2012-05-11 13:18:52"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000057"	"00000057"	"1"	"00004"	""	"2012-05-11 13:18:52"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000058"	"00000058"	"1"	"00004"	""	"2012-05-11 13:18:53"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000059"	"00000059"	"1"	"00004"	""	"2012-05-11 13:18:53"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000060"	"00000060"	"1"	"00004"	""	"2012-05-11 13:18:54"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000062"	"00000062"	"1"	"00004"	""	"2012-05-11 13:18:54"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000063"	"00000063"	"1"	"00004"	""	"2012-05-11 13:18:54"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000065"	"00000065"	"1"	"00004"	""	"2012-05-11 13:18:56"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000066"	"00000066"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000067"	"00000067"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000068"	"00000068"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000069"	"00000069"	"1"	"00004"	""	"2012-05-11 13:18:57"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000072"	"00000072"	"1"	"00004"	""	"2012-05-11 13:18:59"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000074"	"00000074"	"1"	"00004"	""	"2012-05-11 13:18:59"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000076"	"00000076"	"1"	"00004"	""	"2012-05-11 13:19:02"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000077"	"00000077"	"1"	"00004"	""	"2012-05-11 13:19:03"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000078"	"00000078"	"1"	"00004"	""	"2012-05-11 13:19:04"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000079"	"00000079"	"1"	"00004"	""	"2012-05-11 13:19:05"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000080"	"00000080"	"1"	"00004"	""	"2012-05-11 13:19:05"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000081"	"00000081"	"1"	"00004"	""	"2012-05-11 13:19:05"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000083"	"00000083"	"1"	"00004"	""	"2012-05-11 13:19:08"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000084"	"00000084"	"1"	"00004"	""	"2012-05-11 13:19:09"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000088"	"00000088"	"1"	"00004"	""	"2012-05-11 13:19:14"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000090"	"00000090"	"1"	"00004"	""	"2012-05-11 13:19:16"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000092"	"00000092"	"1"	"00004"	""	"2012-05-11 13:19:17"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000094"	"00000094"	"1"	"00004"	""	"2012-05-11 13:19:21"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000095"	"00000095"	"1"	"00004"	""	"2012-05-11 13:19:24"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000100"	"00000100"	"1"	"00004"	""	"2012-05-11 13:19:41"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000101"	"00000101"	"1"	"00004"	""	"2012-05-11 13:19:44"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000107"	"00000107"	"1"	"00004"	""	"2012-05-11 13:19:58"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000017889"	"00017906"	"1"	"00746"	"00746"	"2014-07-15 11:22:23"	"00006"	"2014-07-18 17:55:43"	"DGGE;SEQ;SEQ-NG-I"	"DNA"	""	""
"0000017890"	"00017907"	"1"	"00746"	"00746"	"2014-07-15 11:46:50"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000018436"	"00018452"	"1"	"00746"	"00746"	"2014-07-18 17:38:08"	""	""	"SEQ-NG;SEQ-NG-I"	"DNA"	""	""
"0000018829"	"00018845"	"1"	"00746"	"00746"	"2014-07-24 11:10:39"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000019394"	"00019409"	"1"	"00746"	"00746"	"2014-07-24 16:57:55"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000019396"	"00019411"	"1"	"00746"	"00746"	"2014-07-24 17:18:42"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000019398"	"00019413"	"1"	"00746"	"00746"	"2014-07-24 18:55:32"	"00006"	"2014-09-21 21:56:08"	"SEQ;SEQ-NG-I"	"DNA;RNA"	""	""
"0000019909"	"00019917"	"1"	"00746"	"00746"	"2014-09-18 10:46:20"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000025021"	"00025020"	"1"	"01161"	"01161"	"2014-12-03 14:00:41"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000025121"	"00025118"	"1"	"01161"	"01161"	"2014-12-04 20:17:31"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000025127"	"00025124"	"1"	"01161"	"01161"	"2014-12-05 10:16:57"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000025128"	"00025125"	"1"	"01161"	"01161"	"2014-12-05 10:35:00"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000032407"	"00032340"	"1"	"00006"	"00006"	"2015-02-14 21:15:49"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000050540"	"00050595"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000059209"	"00054892"	"1"	"01239"	"01239"	"2016-03-03 21:54:43"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000227291"	"00226216"	"1"	"00006"	"00006"	"2019-03-03 17:50:34"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000293251"	"00292083"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293252"	"00292084"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293253"	"00292085"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293254"	"00292086"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293255"	"00292087"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293256"	"00292088"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293257"	"00292089"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293258"	"00292090"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293259"	"00292091"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293260"	"00292092"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293261"	"00292093"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293262"	"00292094"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293263"	"00292095"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000302527"	"00301406"	"1"	"01807"	"01807"	"2020-05-15 11:33:01"	""	""	"SEQ"	"DNA"	""	""
"0000305785"	"00304656"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000307343"	"00306210"	"1"	"03695"	"03695"	"2020-07-11 09:26:16"	""	""	"SEQ-NG"	"DNA"	""	""
"0000309903"	"00308758"	"1"	"00004"	"00006"	"2020-08-27 15:56:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"105 WGS/200 WES"
"0000309904"	"00308759"	"1"	"00004"	"00006"	"2020-08-27 15:56:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"105 WGS/200 WES"
"0000309905"	"00308760"	"1"	"00004"	"00006"	"2020-08-27 15:56:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"105 WGS/200 WES"
"0000309906"	"00308761"	"1"	"00004"	"00006"	"2020-08-27 15:56:29"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"105 WGS/200 WES"
"0000316116"	"00314940"	"1"	"02461"	"00006"	"2020-10-22 10:44:18"	""	""	"SEQ"	"DNA"	""	"panel LAMB2, WT1, NPHS1, NPHS2"
"0000316130"	"00314954"	"1"	"02461"	"00006"	"2020-10-22 10:44:18"	""	""	"SEQ"	"DNA"	""	"panel LAMB2, WT1, NPHS1, NPHS2"
"0000381634"	"00380420"	"1"	"04152"	"04152"	"2021-08-17 08:13:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000415985"	"00414704"	"1"	"00000"	"03840"	"2022-08-02 11:28:48"	""	""	"SEQ-NG"	"DNA;RNA"	"blood"	""
"0000415986"	"00414705"	"1"	"00000"	"03840"	"2022-08-02 11:28:48"	""	""	"SEQ-NG"	"DNA;RNA"	"blood"	""
"0000420970"	"00419666"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"clinical exome sequencing"
"0000450139"	"00448549"	"1"	"03676"	"03676"	"2024-04-08 13:07:31"	""	""	"SEQ-NG"	"DNA"	"Blood"	""
"0000459424"	"00457804"	"1"	"03544"	"03544"	"2024-11-19 14:19:20"	""	""	"SEQ-NG-I"	"DNA"	"peripheral blood"	"CES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 746
"{{screeningid}}"	"{{geneid}}"
"0000000004"	"ACADM"
"0000000004"	"AGL"
"0000000004"	"DPYD"
"0000000004"	"ETFB"
"0000000004"	"GAA"
"0000000004"	"HESX1"
"0000000004"	"NHLRC1"
"0000000004"	"NPHS1"
"0000000004"	"SBDS"
"0000000004"	"SLC26A2"
"0000000004"	"SMPD1"
"0000000007"	"ACADM"
"0000000007"	"ATP7B"
"0000000007"	"CDH23"
"0000000007"	"HESX1"
"0000000007"	"HGSNAT"
"0000000007"	"NPHS1"
"0000000007"	"PAH"
"0000000007"	"PKHD1"
"0000000007"	"SERPINA1"
"0000000008"	"ACADM"
"0000000008"	"ADA"
"0000000008"	"ATP7B"
"0000000008"	"CFTR"
"0000000008"	"ETFB"
"0000000008"	"FKTN"
"0000000008"	"HESX1"
"0000000008"	"HGSNAT"
"0000000008"	"MYO5A"
"0000000008"	"NPHS1"
"0000000008"	"SERPINA1"
"0000000008"	"USH2A"
"0000000009"	"ACADM"
"0000000009"	"ARSB"
"0000000009"	"ATP7B"
"0000000009"	"CFTR"
"0000000009"	"CLN3"
"0000000009"	"ETFB"
"0000000009"	"GAN"
"0000000009"	"GLB1"
"0000000009"	"HEXB"
"0000000009"	"IGHMBP2"
"0000000009"	"MEFV"
"0000000009"	"NHLRC1"
"0000000009"	"NPHS1"
"0000000009"	"NTRK1"
"0000000009"	"PMP22"
"0000000009"	"SERPINA1"
"0000000009"	"WNT10A"
"0000000012"	"ACADVL"
"0000000012"	"ADA"
"0000000012"	"AGL"
"0000000012"	"ATP7B"
"0000000012"	"CYP21A2"
"0000000012"	"DPYD"
"0000000012"	"ETFB"
"0000000012"	"GBA"
"0000000012"	"HGSNAT"
"0000000012"	"IGHMBP2"
"0000000012"	"LAMA2"
"0000000012"	"MYO5A"
"0000000012"	"NHLRC1"
"0000000012"	"NPHS1"
"0000000012"	"SERPINA1"
"0000000012"	"SLC26A2"
"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"
"0000000015"	"ALG6"
"0000000015"	"ARSB"
"0000000015"	"ATP7B"
"0000000015"	"BMPR2"
"0000000015"	"DPYD"
"0000000015"	"ETFB"
"0000000015"	"GALC"
"0000000015"	"GLB1"
"0000000015"	"NHLRC1"
"0000000015"	"NPHS1"
"0000000015"	"SERPINA1"
"0000000015"	"TGM1"
"0000000016"	"ADA"
"0000000016"	"ALG6"
"0000000016"	"ATP7B"
"0000000016"	"CFTR"
"0000000016"	"DPYD"
"0000000016"	"ENPP1"
"0000000016"	"GLB1"
"0000000016"	"IGHMBP2"
"0000000016"	"NPHS1"
"0000000016"	"PKHD1"
"0000000017"	"ALG6"
"0000000017"	"ASPA"
"0000000017"	"ATP7B"
"0000000017"	"DPYD"
"0000000017"	"GLB1"
"0000000017"	"LAMA2"
"0000000017"	"MMACHC"
"0000000017"	"MPL"
"0000000017"	"MYO5A"
"0000000017"	"NHLRC1"
"0000000017"	"NPHS1"
"0000000017"	"SERPINA1"
"0000000017"	"SMPD1"
"0000000018"	"ALG6"
"0000000018"	"ASPA"
"0000000018"	"ATP7B"
"0000000018"	"DPYD"
"0000000018"	"GLB1"
"0000000018"	"LAMA2"
"0000000018"	"MMACHC"
"0000000018"	"MPL"
"0000000018"	"MYO5A"
"0000000018"	"NHLRC1"
"0000000018"	"NPHS1"
"0000000018"	"SERPINA1"
"0000000018"	"SMPD1"
"0000000020"	"ALPL"
"0000000020"	"ATP7B"
"0000000020"	"ETFB"
"0000000020"	"GLB1"
"0000000020"	"IGHMBP2"
"0000000020"	"MKS1"
"0000000020"	"MYO5A"
"0000000020"	"NHLRC1"
"0000000020"	"NPHS1"
"0000000020"	"SERPINA1"
"0000000020"	"SLC26A2"
"0000000020"	"SMPD1"
"0000000022"	"ALPL"
"0000000022"	"ATP7B"
"0000000022"	"CBS"
"0000000022"	"DPYD"
"0000000022"	"ETFB"
"0000000022"	"GALC"
"0000000022"	"GLB1"
"0000000022"	"NPHS1"
"0000000022"	"PAH"
"0000000022"	"SERPINA1"
"0000000022"	"SLC26A2"
"0000000024"	"AGA"
"0000000024"	"AMPD1"
"0000000024"	"ATP7B"
"0000000024"	"CBS"
"0000000024"	"CPT1A"
"0000000024"	"CYP21A2"
"0000000024"	"DPYD"
"0000000024"	"ETFB"
"0000000024"	"MEFV"
"0000000024"	"NPHP4"
"0000000024"	"NPHS1"
"0000000024"	"SERPINA1"
"0000000025"	"AMPD1"
"0000000025"	"ATP7B"
"0000000025"	"ATR"
"0000000025"	"CBS"
"0000000025"	"CFTR"
"0000000025"	"CYP21A2"
"0000000025"	"ETFB"
"0000000025"	"GLB1"
"0000000025"	"HBB"
"0000000025"	"IGHMBP2"
"0000000025"	"NPHS1"
"0000000025"	"PAH"
"0000000025"	"SERPINA1"
"0000000025"	"SLC26A2"
"0000000026"	"AMPD1"
"0000000026"	"ATP7B"
"0000000026"	"CBS"
"0000000026"	"CPT1A"
"0000000026"	"ETFB"
"0000000026"	"GLB1"
"0000000026"	"GRHPR"
"0000000026"	"HEXB"
"0000000026"	"INVS"
"0000000026"	"MECP2"
"0000000026"	"MEFV"
"0000000026"	"NHLRC1"
"0000000026"	"NPHS1"
"0000000026"	"NTRK1"
"0000000026"	"SERPINA1"
"0000000026"	"SLC26A2"
"0000000027"	"AMPD1"
"0000000027"	"ARSB"
"0000000027"	"ATP7B"
"0000000027"	"CBS"
"0000000027"	"CFTR"
"0000000027"	"DPYD"
"0000000027"	"ETFB"
"0000000027"	"HEXB"
"0000000027"	"MYO5A"
"0000000027"	"NHLRC1"
"0000000027"	"NPC1"
"0000000027"	"NPHS1"
"0000000027"	"SLC26A2"
"0000000028"	"ALG1"
"0000000028"	"AMPD1"
"0000000028"	"ATP7B"
"0000000028"	"BTD"
"0000000028"	"CBS"
"0000000028"	"CLN3"
"0000000028"	"CYP21A2"
"0000000028"	"FGG"
"0000000028"	"GALC"
"0000000028"	"GLB1"
"0000000028"	"JAK3"
"0000000028"	"NPHS1"
"0000000028"	"RAG2"
"0000000028"	"RPGRIP1L"
"0000000028"	"SERPINA1"
"0000000028"	"SLC26A2"
"0000000031"	"ADA"
"0000000031"	"ATP7B"
"0000000031"	"CYP21A2"
"0000000031"	"DPYD"
"0000000031"	"ETFB"
"0000000031"	"FKTN"
"0000000031"	"GAA"
"0000000031"	"GLB1"
"0000000031"	"IGHMBP2"
"0000000031"	"NHLRC1"
"0000000031"	"NPHS1"
"0000000031"	"SERPINA1"
"0000000031"	"TMEM67"
"0000000031"	"WNT10A"
"0000000037"	"ATM"
"0000000037"	"ATP7B"
"0000000037"	"DPYD"
"0000000037"	"ETFB"
"0000000037"	"HEXB"
"0000000037"	"NHLRC1"
"0000000037"	"NPHS1"
"0000000037"	"SBDS"
"0000000037"	"SLC26A2"
"0000000037"	"SLC3A1"
"0000000037"	"SMN1"
"0000000037"	"SMPD1"
"0000000039"	"AHI1"
"0000000039"	"ATP7B"
"0000000039"	"DPYD"
"0000000039"	"ETFB"
"0000000039"	"GAA"
"0000000039"	"GLB1"
"0000000039"	"LAMA2"
"0000000039"	"MTHFR"
"0000000039"	"NPHP4"
"0000000039"	"NPHS1"
"0000000039"	"P3H1"
"0000000039"	"SBDS"
"0000000039"	"SLC26A2"
"0000000041"	"ATP7A"
"0000000041"	"ATP7B"
"0000000041"	"DPYD"
"0000000041"	"ETFB"
"0000000041"	"IGHMBP2"
"0000000041"	"MPL"
"0000000041"	"MYO5A"
"0000000041"	"NHLRC1"
"0000000041"	"NPHP4"
"0000000041"	"NPHS1"
"0000000041"	"PLP1"
"0000000041"	"SERPINA1"
"0000000042"	"ATP7B"
"0000000042"	"DPYD"
"0000000042"	"ETFB"
"0000000042"	"GLB1"
"0000000042"	"IGHMBP2"
"0000000042"	"JAK3"
"0000000042"	"NPHP4"
"0000000042"	"NPHS1"
"0000000042"	"POLG"
"0000000042"	"QARS"
"0000000042"	"SERPINA1"
"0000000042"	"SLC26A2"
"0000000042"	"SMPD1"
"0000000043"	"ATP7B"
"0000000043"	"DPYD"
"0000000043"	"IGHMBP2"
"0000000043"	"MYO5A"
"0000000043"	"NHLRC1"
"0000000043"	"NPHS1"
"0000000043"	"PCK1"
"0000000043"	"SERPINA1"
"0000000043"	"SLC26A2"
"0000000046"	"AGXT"
"0000000046"	"ATP7B"
"0000000046"	"CFTR"
"0000000046"	"CYP27A1"
"0000000046"	"DPYD"
"0000000046"	"EHMT1"
"0000000046"	"GLB1"
"0000000046"	"IGHMBP2"
"0000000046"	"NPHS1"
"0000000046"	"POLG"
"0000000046"	"SERPINA1"
"0000000046"	"SMPD1"
"0000000047"	"ATP7B"
"0000000047"	"BCKDHA"
"0000000047"	"DPYD"
"0000000047"	"ETFB"
"0000000047"	"HEXB"
"0000000047"	"IGHMBP2"
"0000000047"	"KMT2A"
"0000000047"	"MEFV"
"0000000047"	"MPL"
"0000000047"	"MYO5A"
"0000000047"	"NHLRC1"
"0000000047"	"NPC1"
"0000000047"	"NPHS1"
"0000000047"	"SERPINA1"
"0000000048"	"ATP7B"
"0000000048"	"CPT1A"
"0000000048"	"DPYD"
"0000000048"	"ETFB"
"0000000048"	"GAA"
"0000000048"	"GBA"
"0000000048"	"GLB1"
"0000000048"	"IGHMBP2"
"0000000048"	"LAMA2"
"0000000048"	"MEFV"
"0000000048"	"NHLRC1"
"0000000048"	"NPHS1"
"0000000048"	"SERPINA1"
"0000000051"	"AGXT"
"0000000051"	"AHI1"
"0000000051"	"ATP7B"
"0000000051"	"DPYD"
"0000000051"	"ETFB"
"0000000051"	"FAH"
"0000000051"	"GALC"
"0000000051"	"GLB1"
"0000000051"	"IGHMBP2"
"0000000051"	"MYO5A"
"0000000051"	"NHLRC1"
"0000000051"	"NPHS1"
"0000000051"	"PKHD1"
"0000000052"	"ARSB"
"0000000052"	"DPYD"
"0000000052"	"ERCC4"
"0000000052"	"ETFB"
"0000000052"	"NPHS1"
"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"
"0000000055"	"ACADVL"
"0000000055"	"AGXT"
"0000000055"	"ATP7B"
"0000000055"	"DPYD"
"0000000055"	"ETFB"
"0000000055"	"GLB1"
"0000000055"	"HBB"
"0000000055"	"MYO5A"
"0000000055"	"NHLRC1"
"0000000055"	"NPHS1"
"0000000055"	"SERPINA1"
"0000000056"	"ACADL"
"0000000056"	"ADA"
"0000000056"	"ASPA"
"0000000056"	"ATP7B"
"0000000056"	"BTD"
"0000000056"	"CYP27A1"
"0000000056"	"DPYD"
"0000000056"	"ETFB"
"0000000056"	"GLB1"
"0000000056"	"HEXB"
"0000000056"	"IGHMBP2"
"0000000056"	"NPHS1"
"0000000056"	"SERPINA1"
"0000000056"	"SLC26A2"
"0000000057"	"ALDOB"
"0000000057"	"ATM"
"0000000057"	"ATP7B"
"0000000057"	"DPYD"
"0000000057"	"ERCC6"
"0000000057"	"ETFB"
"0000000057"	"GAA"
"0000000057"	"IGHMBP2"
"0000000057"	"LAMA2"
"0000000057"	"NHLRC1"
"0000000057"	"NPHS1"
"0000000057"	"SERPINA1"
"0000000058"	"ALDH5A1"
"0000000058"	"ATP7B"
"0000000058"	"CFTR"
"0000000058"	"CYP21A2"
"0000000058"	"GBA"
"0000000058"	"HEXB"
"0000000058"	"IGHMBP2"
"0000000058"	"MEFV"
"0000000058"	"MYO5A"
"0000000058"	"NHLRC1"
"0000000058"	"NPHS1"
"0000000058"	"PKHD1"
"0000000058"	"PMM2"
"0000000058"	"SERPINA1"
"0000000058"	"SLC26A2"
"0000000058"	"SMPD1"
"0000000059"	"ATP7B"
"0000000059"	"GBA"
"0000000059"	"GLB1"
"0000000059"	"IKBKAP"
"0000000059"	"MEFV"
"0000000059"	"NPHS1"
"0000000059"	"SERPINA1"
"0000000060"	"ATP7B"
"0000000060"	"CFTR"
"0000000060"	"ENPP1"
"0000000060"	"GBA"
"0000000060"	"GLB1"
"0000000060"	"NHLRC1"
"0000000060"	"NPC2"
"0000000060"	"NPHS1"
"0000000060"	"SMPD1"
"0000000062"	"AGXT"
"0000000062"	"ATP7B"
"0000000062"	"CLN3"
"0000000062"	"CYP21A2"
"0000000062"	"ETFB"
"0000000062"	"GALC"
"0000000062"	"GALT"
"0000000062"	"GLB1"
"0000000062"	"HSPG2"
"0000000062"	"IGHMBP2"
"0000000062"	"MEFV"
"0000000062"	"NEB"
"0000000062"	"NPHS1"
"0000000062"	"SERPINA1"
"0000000062"	"SLC26A2"
"0000000062"	"TGM1"
"0000000063"	"ADA"
"0000000063"	"ATP7B"
"0000000063"	"COL7A1"
"0000000063"	"ETFB"
"0000000063"	"GLB1"
"0000000063"	"LYST"
"0000000063"	"MEFV"
"0000000063"	"NHLRC1"
"0000000063"	"NPHS1"
"0000000063"	"NTRK1"
"0000000063"	"SERPINA1"
"0000000065"	"ATP7B"
"0000000065"	"CFTR"
"0000000065"	"ETFB"
"0000000065"	"GLB1"
"0000000065"	"MPL"
"0000000065"	"NHLRC1"
"0000000065"	"NPHS1"
"0000000065"	"SERPINA1"
"0000000065"	"SMPD1"
"0000000066"	"AHI1"
"0000000066"	"ATP7B"
"0000000066"	"HBB"
"0000000066"	"HEXB"
"0000000066"	"IDUA"
"0000000066"	"MPL"
"0000000066"	"NHLRC1"
"0000000066"	"NPHS1"
"0000000066"	"PKHD1"
"0000000066"	"PMM2"
"0000000066"	"SERPINA1"
"0000000066"	"TTN"
"0000000067"	"ASPA"
"0000000067"	"ATP7B"
"0000000067"	"CDH23"
"0000000067"	"CPT1A"
"0000000067"	"CYP21A2"
"0000000067"	"ETFB"
"0000000067"	"GALC"
"0000000067"	"GLB1"
"0000000067"	"MEFV"
"0000000067"	"MTHFR"
"0000000067"	"MVK"
"0000000067"	"NHLRC1"
"0000000067"	"NPHS1"
"0000000067"	"SERPINA1"
"0000000067"	"SLC26A2"
"0000000067"	"SMPD1"
"0000000067"	"WNT10A"
"0000000068"	"ADA"
"0000000068"	"ATP7B"
"0000000068"	"BMPR2"
"0000000068"	"CDH23"
"0000000068"	"CYP21A2"
"0000000068"	"ENPP1"
"0000000068"	"ETFB"
"0000000068"	"FKTN"
"0000000068"	"HBB"
"0000000068"	"HGSNAT"
"0000000068"	"IGHMBP2"
"0000000068"	"IVD"
"0000000068"	"MTHFR"
"0000000068"	"MYO5A"
"0000000068"	"NPHS1"
"0000000068"	"SERPINA1"
"0000000069"	"AHI1"
"0000000069"	"ARSB"
"0000000069"	"ATP7B"
"0000000069"	"CYP27A1"
"0000000069"	"ETFB"
"0000000069"	"GLB1"
"0000000069"	"HEXA"
"0000000069"	"HEXB"
"0000000069"	"LAMA2"
"0000000069"	"MTHFR"
"0000000069"	"MYO5A"
"0000000069"	"NHLRC1"
"0000000069"	"NPHS1"
"0000000069"	"PMM2"
"0000000069"	"SBDS"
"0000000072"	"ARSB"
"0000000072"	"ATP7B"
"0000000072"	"CYP21A2"
"0000000072"	"ETFB"
"0000000072"	"GLB1"
"0000000072"	"IGHMBP2"
"0000000072"	"MTHFR"
"0000000072"	"NHLRC1"
"0000000072"	"NPHS1"
"0000000072"	"PMM2"
"0000000072"	"PPT1"
"0000000072"	"SERPINA1"
"0000000072"	"SMPD1"
"0000000074"	"AGXT"
"0000000074"	"ATP7B"
"0000000074"	"CFTR"
"0000000074"	"ERCC5"
"0000000074"	"GLB1"
"0000000074"	"MTHFR"
"0000000074"	"NHLRC1"
"0000000074"	"NPHS1"
"0000000074"	"SERPINA1"
"0000000076"	"ATP7B"
"0000000076"	"BCKDHA"
"0000000076"	"FKRP"
"0000000076"	"GAA"
"0000000076"	"GLB1"
"0000000076"	"HSD17B4"
"0000000076"	"IGHMBP2"
"0000000076"	"MEFV"
"0000000076"	"NHLRC1"
"0000000076"	"NPHS1"
"0000000076"	"PMM2"
"0000000076"	"POMGNT1"
"0000000076"	"PPT1"
"0000000076"	"SERPINA1"
"0000000076"	"SLC26A2"
"0000000077"	"AGXT"
"0000000077"	"ATP7B"
"0000000077"	"ETFB"
"0000000077"	"GLB1"
"0000000077"	"MYO5A"
"0000000077"	"NPHS1"
"0000000077"	"SERPINA1"
"0000000077"	"SLC26A2"
"0000000077"	"USH2A"
"0000000078"	"ATP7B"
"0000000078"	"CDH23"
"0000000078"	"CFTR"
"0000000078"	"ETFB"
"0000000078"	"GLB1"
"0000000078"	"IGHMBP2"
"0000000078"	"NPHS1"
"0000000078"	"PMM2"
"0000000078"	"POLG"
"0000000078"	"RAG1"
"0000000078"	"SERPINA1"
"0000000078"	"SLC26A2"
"0000000079"	"CDH23"
"0000000079"	"GPR98"
"0000000079"	"NHLRC1"
"0000000079"	"NPHS1"
"0000000079"	"SERPINA1"
"0000000080"	"ATP7B"
"0000000080"	"CDH23"
"0000000080"	"HBA1"
"0000000080"	"NPHS1"
"0000000080"	"SERPINA1"
"0000000080"	"SMPD1"
"0000000081"	"ADAMTS13"
"0000000081"	"ATP7B"
"0000000081"	"CDH23"
"0000000081"	"ETFB"
"0000000081"	"FKTN"
"0000000081"	"GLB1"
"0000000081"	"HEXB"
"0000000081"	"NPHS1"
"0000000081"	"SERPINA1"
"0000000081"	"SMPD1"
"0000000083"	"ASPA"
"0000000083"	"ATP7B"
"0000000083"	"CPT1A"
"0000000083"	"CYP27A1"
"0000000083"	"ETFB"
"0000000083"	"GAA"
"0000000083"	"NPHS1"
"0000000083"	"SERPINA1"
"0000000084"	"ADA"
"0000000084"	"CPT1A"
"0000000084"	"FKRP"
"0000000084"	"GAA"
"0000000084"	"GLB1"
"0000000084"	"MYO5A"
"0000000084"	"NHLRC1"
"0000000084"	"NPHS1"
"0000000084"	"RAG1"
"0000000084"	"SERPINA1"
"0000000084"	"SMPD1"
"0000000088"	"ATP7B"
"0000000088"	"CFTR"
"0000000088"	"ETFB"
"0000000088"	"FKRP"
"0000000088"	"GALC"
"0000000088"	"GLB1"
"0000000088"	"HEXB"
"0000000088"	"IGHMBP2"
"0000000088"	"NHLRC1"
"0000000088"	"NPHS1"
"0000000088"	"POLG"
"0000000088"	"SBDS"
"0000000088"	"SERPINA1"
"0000000090"	"CYP21A2"
"0000000090"	"ERCC4"
"0000000090"	"GLB1"
"0000000090"	"HEXB"
"0000000090"	"IGHMBP2"
"0000000090"	"LAMA2"
"0000000090"	"NHLRC1"
"0000000090"	"NPHS1"
"0000000092"	"ATP8B1"
"0000000092"	"ETFB"
"0000000092"	"GLB1"
"0000000092"	"IGHMBP2"
"0000000092"	"LAMA2"
"0000000092"	"MYO5A"
"0000000092"	"NPHS1"
"0000000092"	"SMPD1"
"0000000094"	"AHI1"
"0000000094"	"ARSB"
"0000000094"	"ATP7B"
"0000000094"	"BTD"
"0000000094"	"ENPP1"
"0000000094"	"ETFB"
"0000000094"	"GCDH"
"0000000094"	"GLB1"
"0000000094"	"INVS"
"0000000094"	"MYO5A"
"0000000094"	"NPHS1"
"0000000094"	"SERPINA1"
"0000000094"	"SMPD1"
"0000000095"	"ATP7B"
"0000000095"	"CFTR"
"0000000095"	"GLB1"
"0000000095"	"HEXB"
"0000000095"	"NHLRC1"
"0000000095"	"NPHS1"
"0000000095"	"SMPD1"
"0000000100"	"ADAMTS13"
"0000000100"	"ATP7B"
"0000000100"	"CFTR"
"0000000100"	"ETFB"
"0000000100"	"HADHA"
"0000000100"	"HESX1"
"0000000100"	"HGSNAT"
"0000000100"	"LAMA2"
"0000000100"	"NHLRC1"
"0000000100"	"NPHS1"
"0000000100"	"PKHD1"
"0000000100"	"SERPINA1"
"0000000101"	"ATP7B"
"0000000101"	"ETFB"
"0000000101"	"GLB1"
"0000000101"	"NPHS1"
"0000000101"	"SERPINA1"
"0000000107"	"ADA"
"0000000107"	"BTD"
"0000000107"	"CLN3"
"0000000107"	"CLRN1"
"0000000107"	"CYP21A2"
"0000000107"	"GLB1"
"0000000107"	"MEFV"
"0000000107"	"MYO5A"
"0000000107"	"NHLRC1"
"0000000107"	"NPHS1"
"0000000107"	"SERPINA1"
"0000000107"	"SLC26A2"
"0000000107"	"WNT10A"
"0000017889"	"NPHS1"
"0000017890"	"NPHS1"
"0000018436"	"NPHS1"
"0000018829"	"LAMB2"
"0000018829"	"NPHS1"
"0000019394"	"CUBN"
"0000019394"	"NPHS1"
"0000019396"	"NPHS1"
"0000019396"	"PLCE1"
"0000019398"	"NPHS1"
"0000019909"	"NPHS1"
"0000032407"	"CRB2"
"0000032407"	"NPHS1"
"0000032407"	"PKD1"
"0000032407"	"SRPX2"
"0000050540"	"NPHS1"
"0000059209"	"NPHS1"
"0000227291"	"NPHS1"
"0000307343"	"NPHS1"
"0000309903"	"NPHS1"
"0000309904"	"NPHS1"
"0000309905"	"NPHS1"
"0000309906"	"NPHS1"
"0000316116"	"NPHS1"
"0000316130"	"NPHS1"
"0000381634"	"COL4A1"
"0000381634"	"COL4A2"
"0000381634"	"COL4A3"
"0000381634"	"COL4A4"
"0000381634"	"COL4A5"
"0000381634"	"COL4A6"
"0000381634"	"NPHS1"
"0000381634"	"NPHS2"
"0000415985"	"GALT"
"0000415986"	"HPRT1"
"0000450139"	"NPHS1"


## 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 = 414
"{{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}}"
"0000000764"	"3"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000765"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000766"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000767"	"3"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000769"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000770"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000771"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000772"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000773"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000774"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000775"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000776"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000777"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000778"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000779"	"3"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000780"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000781"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000782"	"3"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000783"	"3"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000784"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000785"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000786"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000787"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000788"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000789"	"3"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000790"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000791"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000792"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000793"	"3"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000794"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000795"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000796"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000797"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000798"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000799"	"0"	"50"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00002"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35851310C>T"	""	"VUS"	""
"0000000800"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000801"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000802"	"3"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000803"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000804"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000805"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000806"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000807"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000808"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000809"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000810"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000811"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000812"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000813"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000814"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000815"	"0"	"50"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"00002"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35831699T>C"	""	"VUS"	""
"0000000816"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000817"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000818"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000819"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000820"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000821"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000822"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000823"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000824"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000825"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000826"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000827"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000828"	"0"	"50"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00002"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35848345C>T"	""	"VUS"	""
"0000000829"	"0"	"50"	"19"	"36330277"	"36330277"	"subst"	"0.0101477"	"00002"	"NPHS1_000004"	"g.36330277C>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35839375C>G"	""	"VUS"	""
"0000000831"	"0"	"50"	"19"	"36330277"	"36330277"	"subst"	"0.0101477"	"00002"	"NPHS1_000004"	"g.36330277C>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35839375C>G"	""	"VUS"	""
"0000000832"	"0"	"50"	"19"	"36330277"	"36330277"	"subst"	"0.0101477"	"00002"	"NPHS1_000004"	"g.36330277C>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35839375C>G"	""	"VUS"	""
"0000000833"	"0"	"50"	"19"	"36330277"	"36330277"	"subst"	"0.0101477"	"00002"	"NPHS1_000004"	"g.36330277C>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35839375C>G"	""	"VUS"	""
"0000000834"	"0"	"50"	"19"	"36330277"	"36330277"	"subst"	"0.0101477"	"00002"	"NPHS1_000004"	"g.36330277C>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35839375C>G"	""	"VUS"	""
"0000000835"	"3"	"50"	"19"	"36330277"	"36330277"	"subst"	"0.0101477"	"00002"	"NPHS1_000004"	"g.36330277C>G"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35839375C>G"	""	"VUS"	""
"0000000836"	"0"	"50"	"19"	"36340506"	"36340506"	"subst"	"0.00109262"	"00002"	"NPHS1_000005"	"g.36340506A>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35849604A>C"	""	"VUS"	""
"0000000837"	"0"	"50"	"19"	"36340187"	"36340187"	"subst"	"0.0149105"	"00002"	"NPHS1_000006"	"g.36340187G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35849285G>C"	""	"VUS"	""
"0000000838"	"0"	"50"	"19"	"36340187"	"36340187"	"subst"	"0.0149105"	"00002"	"NPHS1_000006"	"g.36340187G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35849285G>C"	""	"VUS"	""
"0000016823"	"0"	"77"	"19"	"36343079"	"36343079"	"subst"	"0"	"00015"	"NPHS1_000010"	"g.36343079C>G"	""	"{PMID:Koziell et al. 2002:11854170}"	""	"nt340 (G→C): Promoter change"	"2 English CNF patients (com-het)"	"SUMMARY record"	"yes"	"rs1137844"	""	""	""	"g.35852177C>G"	""	"likely pathogenic"	""
"0000016824"	"0"	"55"	"19"	"36343227"	"36343228"	"del"	"0"	"00015"	"NPHS1_000011"	"g.36343227_36343228del"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"promoter, nt-489(delGA)"	"1 North African CNF family (hom)"	"SUMMARY record"	"yes"	"rs139954720"	""	""	""	"g.35852325_35852326del"	""	"VUS"	""
"0000016825"	"0"	"55"	"19"	"36343221"	"36343228"	"del"	"0"	"00015"	"NPHS1_000012"	"g.36343221_36343228del"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"promoter, nt-489(del(GA)4)"	"1 North American  CNF family  (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35852319_35852326del"	""	"VUS"	""
"0000016826"	"21"	"77"	"19"	"36342681"	"36342681"	"subst"	"0"	"00015"	"NPHS1_000013"	"g.36342681C>A"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.58+1G>T: Splice error"	"1 Indian CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851779C>A"	""	"likely pathogenic"	""
"0000016827"	"0"	"99"	"19"	"36342511"	"36342512"	"del"	"0.00114763"	"00015"	"NPHS1_000014"	"g.36342511_36342512del"	"1/83 FIN CON (h"	"{PMID:Kestila et al. 1998:9660941},{PMID:Lenkkeri at al. 1999:9915943}"	""	"Deletion of nucleotides 121-122 (CT) in exon 2; nt121(del2): frameshift, truncated 90-residue protein. Finmajor mutation."	"Finnish Major CNF mutation (Finmajor): >44 Finnish CNF patients (most hom), 1 North American CNF patient (com-het) and 2 Swedish CNF families (1 hom and 1 com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851609_35851610del"	""	"pathogenic"	""
"0000016828"	"0"	"99"	"19"	"36342498"	"36342498"	"del"	"0"	"00015"	"NPHS1_000015"	"g.36342498del"	""	"{PMID:Heeringa et al. 2008:18503012}, {PMID:Ovunc et al. 2012:22584503}"	""	"Ex2, c.139delG(h) = E46fsX127"	"3 Hispanic (com-het) and 1 African American (hom) CNF patient"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35851596del"	""	"pathogenic"	""
"0000016829"	"0"	"77"	"19"	"36342442"	"36342442"	"subst"	"4.13654E-6"	"00015"	"NPHS1_000016"	"g.36342442C>G"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 2 nt191(G>C): Trp64>Ser"	"1 Finnish CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851540C>G"	""	"likely pathogenic"	""
"0000016830"	"21"	"99"	"19"	"36342385"	"36342385"	"dup"	"0"	"00015"	"NPHS1_000017"	"g.36342385dup"	"0/50 CON"	"{PMID:Gigante et al. 2005:15906409}"	""	"c.248insA: frameshift resulting in a premature termination of translation and truncated protein of 83 amino acids"	"1 Italian CNF family"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851483dup"	""	"pathogenic"	""
"0000016831"	"11"	"77"	"19"	"36342275"	"36342275"	"subst"	"0"	"00015"	"NPHS1_000018"	"g.36342275G>C"	"0/94 CON"	"{PMID:Philippe et al. 2008:18614772}"	""	"c.286C>G: p.L96V"	"1 CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851373G>C"	""	"likely pathogenic"	""
"0000016832"	"0"	"77"	"19"	"36342248"	"36342248"	"subst"	"0"	"00015"	"NPHS1_000019"	"g.36342248C>T"	"0/200 JAP CON"	"{PMID:Sako et al. 2005:15780077}"	""	"313G>A: D105N"	"2 Japanese CNF patients (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851346C>T"	""	"likely pathogenic"	""
"0000016833"	"11"	"77"	"19"	"36342242"	"36342242"	"subst"	"1.63725E-5"	"00015"	"NPHS1_000020"	"g.36342242C>T"	"0/94 CON"	"{PMID:Philippe et al. 2008:18614772}"	""	"c.319G>A: p.A107T"	"1 CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851340C>T"	""	"likely pathogenic"	""
"0000016834"	"0"	"55"	"19"	"36342241"	"36342241"	"subst"	"1.22782E-5"	"00015"	"NPHS1_000021"	"g.36342241G>A"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.C320T: p.A107V"	"2 Indian CNF patients (1 com-het and 1 het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851339G>A"	""	"VUS"	""
"0000016835"	"0"	"77"	"19"	"36341992"	"36341992"	"subst"	"0"	"00015"	"NPHS1_000022"	"g.36341992C>T"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"275–1G>A(h) = splice site"	"1 European  CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851090C>T"	""	"likely pathogenic"	""
"0000016836"	"0"	"99"	"19"	"36341921"	"36341921"	"subst"	"0"	"00015"	"NPHS1_000023"	"g.36341921G>C"	""	"{PMID:Beltcheva et al. 2001:11317351}, {PMID:Philippe et al. 2008:18614772}"	""	"468C>G: Y156X"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35851019G>C"	""	"pathogenic"	""
"0000016837"	"11"	"77"	"19"	"36341910"	"36341910"	"subst"	"0"	"00015"	"NPHS1_000024"	"g.36341910C>G"	""	"{PMID:Aya et al. 2009:19321760}"	""	"479G>C: Cys160Ser"	"1 Japanese CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35851008C>G"	""	"likely pathogenic"	""
"0000016838"	"3"	"77"	"19"	"36341889"	"36341889"	"subst"	"4.06431E-6"	"00015"	"NPHS1_000025"	"g.36341889G>A"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.C500T: p.P167L"	"1 Indian CNF family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35850987G>A"	""	"likely pathogenic"	""
"0000016839"	"0"	"77"	"19"	"36341877"	"36341877"	"subst"	"0"	"00015"	"NPHS1_000026"	"g.36341877A>T"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 4 nt512(T>A): Ile171>Asn"	"1 Turkish CNF family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35850975A>T"	""	"likely pathogenic"	""
"0000016840"	"0"	"77"	"19"	"36341874"	"36341876"	"del"	"0"	"00015"	"NPHS1_000027"	"g.36341874_36341876del"	"0/93 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Beltcheva et al. 2001:11317351}, {PMID:Koziell et al. 2002:11854170}, {PMID:Schoeb et al. 2010:20172850}"	""	"nt514(delACC): delT172; 513-5delCAC: del172T; c.514_516delACC: p.T172del"	"1 Dutch CNF family (com-het), 1 Middle Eastern (hom) and 1 Egyptian (hom) CNF patient and CNF patients with non specified number and origin"	"SUMMARY record"	"yes"	""	""	""	""	"g.35850972_35850974del"	""	"likely pathogenic"	""
"0000016841"	"0"	"99"	"19"	"36341874"	"36341874"	"del"	"0"	"00015"	"NPHS1_000028"	"g.36341874del"	""	"{PMID:Philippe et al. 2008:18614772}"	""	"c.516delC: p.T712fs175X"	"2 CNF patients (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35850972del"	""	"pathogenic"	""
"0000016842"	"0"	"77"	"19"	"36341871"	"36341871"	"subst"	"0"	"00015"	"NPHS1_000029"	"g.36341871A>T"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 4 nt518(T>A): Ile173>Asn"	"1 French CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35850969A>T"	""	"likely pathogenic"	""
"0000016843"	"0"	"77"	"19"	"36341858"	"36341858"	"subst"	"0"	"00015"	"NPHS1_000030"	"g.36341858C>G"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"intron 4, nt526+5(G>C): Splice-site mutation"	"1 Swedish CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35850956C>G"	""	"likely pathogenic"	""
"0000016844"	"0"	"99"	"19"	"36341342"	"36341342"	"subst"	"1.21826E-5"	"00015"	"NPHS1_000031"	"g.36341342G>A"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"532C>T: Q178X"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35850440G>A"	""	"pathogenic"	""
"0000016845"	"0"	"99"	"19"	"36341340"	"36341340"	"del"	"0"	"00015"	"NPHS1_000032"	"g.36341340del"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 5, nt534(delG): frameshift and trunc. 180-res. protein"	"1 North American CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35850438del"	""	"pathogenic"	""
"0000016846"	"0"	"99"	"19"	"36341300"	"36341300"	"subst"	"4.06072E-6"	"00015"	"NPHS1_000033"	"g.36341300G>A"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.C574T: p.Q193X"	"1 Arabic CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35850398G>A"	""	"pathogenic"	""
"0000016847"	"21"	"77"	"19"	"36340557"	"36340557"	"subst"	"0"	"00015"	"NPHS1_000034"	"g.36340557T>G"	""	"{PMID:Philippe et al. 2008:18614772}"	""	"c.609-2A>C"	"1 CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35849655T>G"	""	"likely pathogenic"	""
"0000016848"	"0"	"99"	"19"	"36340543"	"36340550"	"delins"	"0"	"00015"	"NPHS1_000035"	"g.36340543_36340550delinsAA"	"0/93 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}, {PMID:Heeringa et al. 2008:18503012}, {PMID:Schoeb et al. 2010:20172850},  {PMID:Mbarek et al. 2011:21125408}"	""	"exon 6, nt603(delCACCCCGG,insTT): Tyr205, Pro206, Arg207→Ile205; Ex6, c.603del8ins2: Y205,P206,R207 = I205; c.613_620delinsTT: p.T205,P206,R207>I205"	"1 Turkish CNF family (hom), 2 European CNF patients (com-het), 1 Pakistan CNF patient (hom), 1 Caucasian CNF patient (com-het) and \r\n1 Tunisian CNF patient (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35849641_35849648delinsAA"	""	"pathogenic"	""
"0000016849"	"0"	"99"	"19"	"36340502"	"36340503"	"del"	"0"	"00015"	"NPHS1_000036"	"g.36340502_36340503del"	""	"{PMID:Koziell et al. 2002:11854170}"	""	"nt661 (delAG): Frameshift and truncation"	"1 English CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35849600_35849601del"	""	"pathogenic"	""
"0000016850"	"0"	"99"	"19"	"36340472"	"36340472"	"subst"	"0"	"00015"	"NPHS1_000037"	"g.36340472G>T"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"692C>A: S231X"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35849570G>T"	""	"pathogenic"	""
"0000016851"	"0"	"99"	"19"	"36340242"	"36340242"	"subst"	"4.0995E-6"	"00015"	"NPHS1_000038"	"g.36340242C>A"	""	"{PMID:Sako et al. 2005:15780077}, {PMID:Aya et al. 2009:19321760}"	""	"736G>T: E246X"	"3 Japanese CNF families (1 hom and 2 com-het))"	"SUMMARY record"	"yes"	""	""	""	""	"g.35849340C>A"	""	"pathogenic"	""
"0000016852"	"0"	"77"	"19"	"36340212"	"36340212"	"subst"	"0.00023717"	"00015"	"NPHS1_000039"	"g.36340212G>A"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"Ex7, c.767C>T(h) = R256W"	"1 Arabic CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35849310G>A"	""	"likely pathogenic"	""
"0000016853"	"0"	"77"	"19"	"36340187"	"36340187"	"subst"	"0.0149105"	"00015"	"NPHS1_000006"	"g.36340187G>C"	""	"{PMID:Koziell et al. 2002:11854170}"	""	"nt791 (C→G): P264R"	"1 English/Indian CNF patient (com-het)"	"SUMMARY record"	"yes"	"rs34982899"	""	""	""	"g.35849285G>C"	""	"likely pathogenic"	""
"0000016854"	"0"	"77"	"19"	"36340170"	"36340170"	"subst"	"4.08367E-6"	"00015"	"NPHS1_000041"	"g.36340170C>A"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}"	""	"exon 7 nt808(G>T): Gly270>Cys"	"1 English CNF family (com-het) and 1 English CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35849268C>A"	""	"likely pathogenic"	""
"0000016855"	"0"	"77"	"19"	"36340004"	"36340004"	"subst"	"4.16375E-6"	"00015"	"NPHS1_000042"	"g.36340004C>T"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.G886A: p.W289X"	"1 Turkish CNF patient (com-het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35849102C>T"	""	"likely pathogenic"	""
"0000016856"	"0"	"77"	"19"	"36339690"	"36339690"	"subst"	"1.2185E-5"	"00015"	"NPHS1_000043"	"g.36339690G>T"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.C1019A: p.P340H"	"1 Afghanistanian (hom) and 1 Asian (com-het) CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848788G>T"	""	"likely pathogenic"	""
"0000016857"	"0"	"77"	"19"	"36339669"	"36339669"	"subst"	"0"	"00015"	"NPHS1_000044"	"g.36339669C>T"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.G1040A: p.G347E"	"1 Arabic CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848767C>T"	""	"likely pathogenic"	""
"0000016858"	"0"	"77"	"19"	"36339661"	"36339661"	"subst"	"8.12229E-6"	"00015"	"NPHS1_000045"	"g.36339661A>G"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Schoeb et al. 2010:20172850}"	""	"exon 9 nt1048(T>C): Ser350>Pro; c.T1048C: p.S350P"	"1 French CNF family (com-het) and 1 Romanian CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848759A>G"	""	"likely pathogenic"	""
"0000016859"	"0"	"77"	"19"	"36339613"	"36339613"	"subst"	"4.06187E-6"	"00015"	"NPHS1_000046"	"g.36339613T>G"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Schoeb et al. 2010:20172850}"	""	"exon 9 nt1096(A>C): Ser366>Arg; c.A1096C: p.S366R"	"1 Croatian CNF family (hom), 1 North American CNF family (com-het) and 2 Serbian CNF patients (1 hom and 1 com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848711T>G"	""	"likely pathogenic"	""
"0000016860"	"0"	"77"	"19"	"36339610"	"36339610"	"subst"	"4.06213E-5"	"00015"	"NPHS1_000047"	"g.36339610G>A"	"0/93 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}, {PMID:Heeringa et al. 2008:18503012}, {PMID:Schoeb et al. 2010:20172850}, {PMID:Ovunc et al. 2012:22584503}, {PMID:Kari et al. 2014:24902943}"	""	"exon 9 nt1099(C>T): Arg367>Cys; c.C1099T: p.R367C"	"1 French CNF family (com-het), 3 Indian CNF patients (hom) and 2 CNF patients of unknown ethnicity (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35848708G>A"	""	"likely pathogenic"	""
"0000016861"	"0"	"77"	"19"	"36339609"	"36339609"	"subst"	"8.12453E-6"	"00015"	"NPHS1_000048"	"g.36339609C>T"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"1100G>A: R367H"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35848707C>T"	""	"likely pathogenic"	""
"0000016862"	"0"	"77"	"19"	"36339607"	"36339607"	"subst"	"0"	"00015"	"NPHS1_000049"	"g.36339607G>A"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 9 nt1102 (C>T): Pro368>Ser"	"1 Dutch CNF family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848705G>A"	""	"likely pathogenic"	""
"0000016863"	"0"	"77"	"19"	"36339606"	"36339606"	"subst"	"0"	"00015"	"NPHS1_000050"	"g.36339606G>A"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"1103C>T: P368L"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35848704G>A"	""	"likely pathogenic"	""
"0000016864"	"0"	"77"	"19"	"36339583"	"36339583"	"subst"	"8.12651E-6"	"00015"	"NPHS1_000051"	"g.36339583G>C"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	"9"	"exon 9 nt1126 (C>G): Leu376>Val"	"1 Dutch  CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848681G>C"	""	"likely pathogenic"	""
"0000016865"	"0"	"99"	"19"	"36339575"	"36339575"	"subst"	"0"	"00015"	"NPHS1_000052"	"g.36339575C>T"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.G1134A: p.W378X"	"1 Arabic CNF family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848673C>T"	""	"pathogenic"	""
"0000016866"	"21"	"99"	"19"	"36339574"	"36339575"	"del"	"0"	"00015"	"NPHS1_000053"	"g.36339574_36339575del"	""	"{PMID:Philippe et al. 2008:18614772}"	""	"c.1134-1135delGC: p.R379fs417X"	"1 CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848672_35848673del"	""	"pathogenic"	""
"0000016867"	"0"	"77"	"19"	"36339574"	"36339574"	"subst"	"1.62639E-5"	"00015"	"NPHS1_000054"	"g.36339574G>A"	""	"{PMID:Beltcheva et al. 2001:11317351}, {PMID:Aya et al. 2009:19321760}"	""	"1135C>T: R379W"	"1 Japanese CNF patient (hom) and CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35848672G>A"	""	"likely pathogenic"	""
"0000016868"	"0"	"99"	"19"	"36339571"	"36339571"	"subst"	"0"	"00015"	"NPHS1_000055"	"g.36339571G>A"	""	"{PMID:Frishberg et al. 2007:17413422}"	""	"c.1138C>T:p.Gln380X"	"4 CNF patients (2 hom and 2 com-het) in 2 large partly consangenous Arab-Muslim CNF families"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848669G>A"	""	"pathogenic"	""
"0000016869"	"3"	"77"	"19"	"36339251"	"36339251"	"subst"	"2.03082E-5"	"00015"	"NPHS1_000056"	"g.36339251G>A"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.C1219T: p.R407W"	"1 Jordanian CNF family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848349G>A"	""	"likely pathogenic"	""
"0000016870"	"0"	"77"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"00015"	"NPHS1_000003"	"g.36339247C>T"	"4/30 CON (het)"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Schoeb et al. 2010:20172850}"	""	"exon 10 nt1223(G>A): Arg408>Gln; c.G1223A: c.R408Q"	"1 Finnish  CNF family (com-het), 1 North American CNF family (com-het), 1 CNF family of nondescribed origin (het) and 1 European CNF patient (het)"	"SUMMARY record"	"yes"	"rs33950747"	""	""	""	"g.35848345C>T"	""	"likely pathogenic"	""
"0000016871"	"0"	"77"	"19"	"36339236"	"36339236"	"subst"	"0"	"00015"	"NPHS1_000058"	"g.36339236C>A"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"Ex10, c.1234G>T(h) = G412C"	"1 Caucasian CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848334C>A"	""	"likely pathogenic"	""
"0000016872"	"0"	"77"	"19"	"36339220"	"36339220"	"subst"	"0"	"00015"	"NPHS1_000059"	"g.36339220C>A"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"1250G>T: C417F"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35848318C>A"	""	"likely pathogenic"	""
"0000016873"	"0"	"99"	"19"	"36339196"	"36339196"	"del"	"0"	"00015"	"NPHS1_000060"	"g.36339196del"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 10, nt1275(delC): frameshift and trunc. 435-res. protein"	"1 North American  CNF family (het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848294del"	""	"pathogenic"	""
"0000016874"	"0"	"99"	"19"	"36339179"	"36339179"	"dup"	"0"	"00015"	"NPHS1_000061"	"g.36339179dup"	""	"{PMID:Koziell et al. 2002:11854170}"	""	"nt1291 (insA): Frameshift and truncation"	"1 Middle Eastern CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848277dup"	""	"pathogenic"	""
"0000016875"	"0"	"99"	"19"	"36339162"	"36339163"	"dup"	"0"	"00015"	"NPHS1_000062"	"g.36339162_36339163dup"	""	"{PMID:Kestila et al. 1998:9660941}, {PMID:Beltcheva et al. 2001:11317351}, {PMID:Heeringa et al. 2008:18503012}"	""	"AC insertion after nucleotide 1306 in exon 10;  nt1306(ins2): Frameshift and truncated  438-residue protein; c.1306insAC = N436fsX437"	"1 North American CNF patient (hom), 1 Caucasian CNF patient (com-het), 1 Indian CNF patient (hom) and CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35848260_35848261dup"	""	"pathogenic"	""
"0000016876"	"0"	"77"	"19"	"36339046"	"36339046"	"subst"	"4.06702E-6"	"00015"	"NPHS1_000063"	"g.36339046A>T"	""	"{PMID:Koziell et al. 2002:11854170}"	""	"nt1337 (T→A): I446N"	"1 English/Indian CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848144A>T"	""	"likely pathogenic"	""
"0000016877"	"0"	"77"	"19"	"36339004"	"36339004"	"subst"	"8.14604E-6"	"00015"	"NPHS1_000064"	"g.36339004C>T"	"0/295 CON"	"{PMID:Belt 2001:11317351}{PMID:Sako 2005:15780077}{PMID:Koziell 2002:11854170}{PMID:Heeringa 2008:18503012}{PMID:Philippe 2008:18614772}{PMID:Lee 2009:19194555}{PMID:Schoeb 2010:20172850}{PMID:Mbarek 2011:21125408}{PMID:Santin 2009:19812541}"	""	"1379G>A: R460Q; c.1379G>A:R460Q; c.1381G>A: p.R460Q; c.G1379A: p.R460Q"	"1 Caucasian (com-het) and 1 Hispanic (het) CNF family, 2 Japanese (com-het), 1 Indian (hom), 1 European (com-het), 1 Korean (com-het), 1 Tunisian CNF patient (com-het), 1 Spanish patient (hom) with probable CNF and CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35848102C>T"	""	"likely pathogenic"	""
"0000016878"	"0"	"77"	"19"	"36338989"	"36338989"	"subst"	"0"	"00015"	"NPHS1_000065"	"g.36338989C>T"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 11 nt1384(G>A): Cys465>Tyr"	"1 Finnish CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35848087C>T"	""	"likely pathogenic"	""
"0000016879"	"0"	"99"	"19"	"36337056"	"36337056"	"del"	"4.8355E-6"	"00015"	"NPHS1_000066"	"g.36337056del"	""	"{PMID:Bolk et al. 1999:10577936}, {PMID:Philippe et al. 2008:18614772}"	""	"exon 12 (1481delC): frameshift and premature truncation of the protein, to 547 residues; Major Mennonite mutation; c.1491delC: p.S494fs547Xexon 12 (1481delC): frameshift and premature truncation of th"	"Mennonite CNF founder mutation (North American/Mennonite)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35846154del"	""	"pathogenic"	""
"0000016880"	"0"	"77"	"19"	"36336982"	"36336982"	"subst"	"0"	"00015"	"NPHS1_000067"	"g.36336982G>A"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"Ex12, c.1555C>T(h) = P519S"	"1 European  CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35846080G>A"	""	"likely pathogenic"	""
"0000016881"	"0"	"77"	"19"	"36336954"	"36336954"	"subst"	"0"	"00015"	"NPHS1_000068"	"g.36336954C>A"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 12 nt1583(G>T): Cys528>Phe"	"1 French CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35846052C>A"	""	"likely pathogenic"	""
"0000016882"	"0"	"77"	"19"	"36336656"	"36336656"	"subst"	"0"	"00015"	"NPHS1_000069"	"g.36336656G>A"	"0/93 CON"	"{PMID:Beltcheva et al. 2001:11317351}, {PMID:Schoeb et al. 2010:20172850}"	""	"1672C>T: R558C; c.C1672T: p.R558C"	"1 Turkish twin pair (hom) with CNF and CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35845754G>A"	""	"likely pathogenic"	""
"0000016883"	"0"	"99"	"19"	"36336627"	"36336627"	"subst"	"3.25603E-5"	"00015"	"NPHS1_000070"	"g.36336627G>T"	""	"{PMID:Beltcheva et al. 2001:11317351}, {PMID:Santin et al. 2009:19812541}, {PMID:Ovunc et al. 2012:22584503}"	""	"1701C>A: C567X"	"4 Hispanic CNF patients (com-het) and other CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35845725G>T"	""	"pathogenic"	""
"0000016884"	"0"	"77"	"19"	"36336621"	"36336621"	"subst"	"0"	"00015"	"NPHS1_000071"	"g.36336621G>C"	""	"{PMID:Frishberg et al. 2007:17413422}, {PMID:Heeringa et al. 2008:18503012}"	""	"c.1707C>G:p.Ser569Arg"	"1 European (com-het), 1 Arabic (hom) and 1 Arab-Muslim CNF patient (com-het; large partly consangenous CNF family)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35845719G>C"	""	"likely pathogenic"	""
"0000016885"	"0"	"77"	"19"	"36336613"	"36336613"	"subst"	"8.14564E-6"	"00015"	"NPHS1_000072"	"g.36336613C>T"	"0/93 CON"	"{PMID:Gigante et al. 2005:15906409}, {PMID:Schoeb et al. 2010:20172850}"	""	"c.1715G>A: p.S572N; c.G1715A: p.S572N"	"1 Italian CNF family and 1 European CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35845711C>T"	""	"likely pathogenic"	""
"0000016886"	"21"	"77"	"19"	"36336604"	"36336604"	"subst"	"4.07392E-6"	"00015"	"NPHS1_000073"	"g.36336604G>T"	"0/91 CON"	"{PMID:Philippe et al. 2008:18614772}"	""	"c.1724C>A: p.P575Q"	"1 CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35845702G>T"	""	"likely pathogenic"	""
"0000016887"	"3"	"77"	"19"	"36336440"	"36336440"	"subst"	"0"	"00015"	"NPHS1_000074"	"g.36336440A>C"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.T1760G: p.L587R"	"1 Pakistan (hom) and 1 Asian (hom) CNF family, 1 Turkish CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35845538A>C"	""	"likely pathogenic"	""
"0000016888"	"21"	"77"	"19"	"36336399"	"36336399"	"subst"	"0"	"00015"	"NPHS1_000075"	"g.36336399C>G"	""	"{PMID:Aya et al. 2009:19321760}"	""	"1801G>C: Gly601Arg"	"1 Japanese CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35845497C>G"	""	"likely pathogenic"	""
"0000016889"	"0"	"77"	"19"	"36336371"	"36336371"	"subst"	"0"	"00015"	"NPHS1_000076"	"g.36336371A>T"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 14 nt1829(T>A):Leu610>Gln"	"1 French CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35845469A>T"	""	"likely pathogenic"	""
"0000016890"	"0"	"77"	"19"	"36336332"	"36336332"	"subst"	"3.66136E-5"	"00015"	"NPHS1_000077"	"g.36336332C>A"	"0/93 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}, {PMID:Schoeb et al. 2010:20172850}, {PMID:Santin et al. 2009:19812541}"	""	"exon 14 nt1868(G>T): Cys623>Phe; c.G1868T: p.C623F"	"1 North American CNF family (com-het) and 1 English (com-het), 1 German (hom), 1 Spanish (com-het) and 1 Caucasian (het) CNF patient"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35845430C>A"	""	"likely pathogenic"	""
"0000016891"	"0"	"77"	"19"	"36336295"	"36336295"	"subst"	"0"	"00015"	"NPHS1_000078"	"g.36336295G>A"	""	"{PMID:Koziell et al. 2002:11854170}"	""	"nt1905 (C→T): Exon 14 alternative splice donor site?, aberrant splicing"	"1 English CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35845393G>A"	""	"likely pathogenic"	""
"0000016892"	"0"	"77"	"19"	"36336272"	"36336272"	"subst"	"0"	"00015"	"NPHS1_000079"	"g.36336272A>G"	""	"{PMID:Koziell et al. 2002:11854170}"	""	"nt1927 (T→C): L643P"	"1 Indian CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35845370A>G"	""	"likely pathogenic"	""
"0000016893"	"11"	"77"	"19"	"36335273"	"36335273"	"subst"	"0"	"00015"	"NPHS1_000080"	"g.36335273G>T"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.C2019A: p.N673K"	"1 European CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35844371G>T"	""	"likely pathogenic"	""
"0000016894"	"0"	"99"	"19"	"36335338"	"36335338"	"subst"	"0"	"00015"	"NPHS1_000081"	"g.36335338G>A"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 15, nt1954(C>T): Q652X"	"1 Swedish CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35844436G>A"	""	"pathogenic"	""
"0000016895"	"11"	"77"	"19"	"36335249"	"36335249"	"subst"	"0"	"00015"	"NPHS1_000082"	"g.36335249C>A"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.G2043T: c.W681C"	"1 Arabic CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35844347C>A"	""	"likely pathogenic"	""
"0000016896"	"0"	"77"	"19"	"36335091"	"36335091"	"subst"	"0"	"00015"	"NPHS1_000083"	"g.36335091A>C"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"Ex16, c.2126T>G(H) = V709G"	"1 Turkish CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35844189A>C"	""	"likely pathogenic"	""
"0000016897"	"0"	"99"	"19"	"36335056"	"36335063"	"del"	"0"	"00015"	"NPHS1_000084"	"g.36335056_36335063del"	""	"{PMID:Sako et al. 2005:15780077}, {PMID:Lee et al. 2009:19194555}"	""	"2156-2163del: frameshift and truncated protein; c.2156_2163 delTGCACTGC: p.L719DfsX4"	"1 Japanese (hom) and 1 Korean CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35844154_35844161del"	""	"pathogenic"	""
"0000016898"	"0"	"99"	"19"	"36335057"	"36335057"	"dup"	"0"	"00015"	"NPHS1_000085"	"g.36335057dup"	""	"{PMID:Frishberg et al. 2007:17413422}"	""	"c.2160_2161insC:p.Cys721fs"	"3 CNF patients (1 hom and 2 com-het) in 1 large partly consangenous Arab-Muslim CNF family"	"SUMMARY record"	"yes"	""	""	""	""	"g.35844155dup"	""	"pathogenic"	""
"0000016899"	"0"	"77"	"19"	"36335046"	"36335046"	"subst"	"4.12402E-6"	"00015"	"NPHS1_000086"	"g.36335046G>C"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 16 nt2171(C>G): Ser724>Cys"	"1 French CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35844144G>C"	""	"likely pathogenic"	""
"0000016900"	"0"	"99"	"19"	"36335044"	"36335045"	"del"	"4.12582E-6"	"00015"	"NPHS1_000087"	"g.36335044_36335045del"	""	"{PMID:Lemley et al. 2006:16703378}"	""	"a 2-bp deletion (2172–2173) in exon 16: frameshift mutation"	"1 CNF patient (het)."	"SUMMARY record"	"yes"	""	""	""	""	"g.35844142_35844143del"	""	"pathogenic"	""
"0000016901"	"0"	"77"	"19"	"36334492"	"36334492"	"subst"	"0"	"00015"	"NPHS1_000088"	"g.36334492G>A"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"2216C>T: A739V"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35843590G>A"	""	"likely pathogenic"	""
"0000016902"	"21"	"77"	"19"	"36334483"	"36334483"	"subst"	"0"	"00015"	"NPHS1_000089"	"g.36334483A>G"	"0/50 CON"	"{PMID:Wu et al. 2011:22009864}"	""	"c.2225T>C: p.I742T"	"1 Chinese CNF family"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35843581A>G"	""	"likely pathogenic"	""
"0000016903"	"0"	"77"	"19"	"36334481"	"36334481"	"subst"	"3.24865E-5"	"00015"	"NPHS1_000090"	"g.36334481G>A"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}, {PMID:Kari et al. 2014:24902943}"	""	"exon 17 nt2227(C>T): Arg743>Cys"	"1 Finnish CNF family (com-het), 1 English CNF patient (com-het) and 2 CNF patients (com-het) of unknown ethnicity"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35843579G>A"	""	"likely pathogenic"	""
"0000016904"	"21"	"99"	"19"	"36334482"	"36334482"	"del"	"0"	"00015"	"NPHS1_000091"	"g.36334482del"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.2227delC: p.R743fsX10"	"1 Arabic CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35843580del"	""	"pathogenic"	""
"0000016905"	"0"	"77"	"19"	"36333383"	"36333383"	"subst"	"1.21838E-5"	"00015"	"NPHS1_000092"	"g.36333383G>A"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}"	""	"exon 18 nt2404(C>T): Arg802>Trp"	"1 Dutch CNF family (com-het) and 1 Indian CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842481G>A"	""	"likely pathogenic"	""
"0000016906"	"0"	"77"	"19"	"36333382"	"36333382"	"subst"	"0"	"00015"	"NPHS1_000093"	"g.36333382C>G"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 18 nt2405 (G>C): Arg802>Pro"	"1 North American CNF family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842480C>G"	""	"likely pathogenic"	""
"0000016907"	"0"	"77"	"19"	"36333370"	"36333370"	"subst"	"8.12236E-6"	"00015"	"NPHS1_000094"	"g.36333370G>T"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 18 nt2417(C>A): Ala806>Asp"	"1 Moroccan CNF patient"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842468G>T"	""	"likely pathogenic"	""
"0000016908"	"11"	"99"	"19"	"36333345"	"36333345"	"subst"	"0"	"00015"	"NPHS1_000095"	"g.36333345G>C"	""	"{PMID:Lee et al. 2009:19194555}"	""	"c.2442C>G: p.Y814X"	"1 Korean CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842443G>C"	""	"pathogenic"	""
"0000016909"	"21"	"99"	"19"	"36333308"	"36333308"	"subst"	"2.03118E-5"	"00015"	"NPHS1_000096"	"g.36333308G>A"	""	"{PMID:Philippe et al. 2008:18614772}, {PMID:Aya et al. 2009:19321760}"	""	"c.2479C>T: p.R827X"	"1 Japanese CNF family and 1 CNF family (com-het) with unknown ethnicity"	"SUMMARY record"	"yes"	"rs140018064"	""	""	""	"g.35842406G>A"	""	"pathogenic"	""
"0000016910"	"0"	"77"	"19"	"36333296"	"36333296"	"subst"	"2.43855E-5"	"00015"	"NPHS1_000097"	"g.36333296G>A"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 18 nt2491(C>T): Arg831>Cys"	"1 North American  CNF family  (het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842394G>A"	""	"likely pathogenic"	""
"0000016911"	"11"	"77"	"19"	"36333292"	"36333292"	"subst"	"0"	"00015"	"NPHS1_000098"	"g.36333292A>G"	"0/96 CON"	"{PMID:Philippe et al. 2008:18614772}"	""	"c.2495T>C: p.L832P"	"2 siblings (com-het) with CNF"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842390A>G"	""	"likely pathogenic"	""
"0000016912"	"0"	"77"	"19"	"36333287"	"36333287"	"subst"	"4.06616E-6"	"00015"	"NPHS1_000099"	"g.36333287C>A"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"2500G>T: V834F"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35842385C>A"	""	"likely pathogenic"	""
"0000016913"	"11"	"99"	"19"	"36333179"	"36333179"	"del"	"0"	"00015"	"NPHS1_000100"	"g.36333179del"	""	"{PMID:Aya et al. 2009:19321760}"	""	"nt2515del: Frameshift"	"3 Japanese CNF families (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842277del"	""	"pathogenic"	""
"0000016914"	"3"	"99"	"19"	"36333134"	"36333143"	"del"	"0"	"00015"	"NPHS1_000101"	"g.36333134_36333143del"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"Ex19, c.2548del10(H) = A850fsX873"	"1 Turkish CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842232_35842241del"	""	"pathogenic"	""
"0000016915"	"0"	"99"	"19"	"36333093"	"36333093"	"subst"	"8.32009E-6"	"00015"	"NPHS1_000102"	"g.36333093G>A"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"Ex19, c.2596C> T(h) = R866X"	"1 European  CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842191G>A"	""	"pathogenic"	""
"0000016916"	"0"	"99"	"19"	"36333084"	"36333085"	"dup"	"0"	"00015"	"NPHS1_000103"	"g.36333084_36333085dup"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}"	""	"exon 19, nt2607(insCC): frameshift and trunc. 851-res. protein"	"1 North American  CNF family  (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842182_35842183dup"	""	"pathogenic"	""
"0000016917"	"0"	"99"	"19"	"36333069"	"36333071"	"delins"	"0"	"00015"	"NPHS1_000104"	"g.36333069_36333071delinsGG"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"2617delTCAinsCC: Frameshift"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35842167_35842169delinsGG"	""	"pathogenic"	""
"0000016918"	"0"	"99"	"19"	"36333064"	"36333064"	"subst"	"0"	"00015"	"NPHS1_000105"	"g.36333064C>T"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.G2625A: p.W875X"	"1 Romanian (com-het) CNF patient and 1 Chinese CNF family (het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35842162C>T"	""	"pathogenic"	""
"0000016919"	"0"	"77"	"19"	"36332704"	"36332704"	"subst"	"0"	"00015"	"NPHS1_000106"	"g.36332704A>G"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}, {PMID:Sabi et al. 2013:23932794}"	""	"c.T2728C: p.S910P"	"1 Arabic CNF patient (com-het) and 1 African patient (com-het) with probable CNF"	"SUMMARY record"	"yes"	"rs143649022"	"0"	""	""	"g.35841802A>G"	""	"likely pathogenic"	""
"0000016920"	"0"	"99"	"19"	"36332658"	"36332664"	"del"	"0"	"00015"	"NPHS1_000107"	"g.36332658_36332664del"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"Ex20, c.2769del7(h) = N924fsX947"	"1 European CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35841756_35841762del"	""	"pathogenic"	""
"0000016921"	"11"	"99"	"19"	"36332649"	"36332649"	"subst"	"0"	"00015"	"NPHS1_000108"	"g.36332649G>T"	"0/50 CON"	"{PMID:Wu et al. 2011:22009864}"	""	"c.2783C>A: premature termination of translation: truncated NPHS1 protein of 928 amino acids"	"1 Chinese CNF family"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35841747G>T"	""	"pathogenic"	""
"0000016922"	"0"	"77"	"19"	"36330320"	"36330320"	"subst"	"4.87306E-5"	"00015"	"NPHS1_000109"	"g.36330320C>A"	"0/176 CON"	"{PMID:Philippe et al. 2008:18614772}, {PMID:Schoeb et al. 2010:20172850}"	""	"c.2928G>T: p.R976S; c.G2928T: p.R976S"	"1 European CNF family (com-het) and 5 CNF patients (com-het) and 2 sibs (com-het)"	"SUMMARY record"	"yes"	"rs138656762"	""	""	""	"g.35839418C>A"	""	"likely pathogenic"	""
"0000016923"	"0"	"99"	"19"	"36330304"	"36330304"	"dup"	"0"	"00015"	"NPHS1_000110"	"g.36330304dup"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"Ex22, c.2944insA(H) = T982fsX1017"	"1 Indian CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35839402dup"	""	"pathogenic"	""
"0000016924"	"11"	"99"	"19"	"36322587"	"36322587"	"del"	"0"	"00015"	"NPHS1_000111"	"g.36322587del"	""	"{PMID:Bolk et al. 1999:10577936}"	""	"3250delG: premature truncation of nephrin protein, resulting in a 1,141-residue protein"	"1 North American/Mennonite CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35831685del"	""	"pathogenic"	""
"0000016925"	"0"	"99"	"19"	"36322587"	"36322587"	"dup"	"0"	"00015"	"NPHS1_000112"	"g.36322587dup"	"0/93 CON"	"{PMID:Kestila et al. 1998:9660941}, {PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}, {PMID:Heeringa et al. 2008:18503012}, {PMID:Lee et al. 2009:19194555}, {PMID:Schoeb et al. 2010:20172850}, {PMID:Yu et al. 2012:22653594}"	""	"nt3250(insG); c.3243_3250insG: V1084fsX1095; c.3250_3251insG; c.3243_3250insG"	"3 Arabic CNF patients (hom), 2 North American CNF patients (com-het), 1 English (com-het), 1 Korean (com-het), 1 Chinese (hom) and 1 Caucasian (com-het) CNF patient, and 1 Turkish CNF family (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35831685dup"	""	"pathogenic"	""
"0000016926"	"0"	"99"	"19"	"36322260"	"36322260"	"subst"	"0.000166506"	"00015"	"NPHS1_000113"	"g.36322260G>A"	"0/83 FIN CON"	"{PMID:Kestila et al. 1998:9660941},{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}, {PMID:Schoeb et al. 2010:20172850}"	""	"nt3325 (C>T) substitution in exon 26:  Nonsense and truncated 1109-residue protein: c.C3325T: p.R1109X. Finminor mutation."	"Finnish minor mutation (Finminor): 12 Finnish CNF patients (4 hom and 8 com-het), 2 Turkish CNF patients (hom) and 1 Swedish CNF family (com-het)"	"SUMMARY record"	"yes"	"rs137853042"	""	""	""	"g.35831358G>A"	""	"pathogenic"	""
"0000016927"	"0"	"99"	"19"	"36322228"	"36322229"	"dup"	"0"	"00015"	"NPHS1_000114"	"g.36322228_36322229dup"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"3357insGG: Frameshift"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35831326_35831327dup"	""	"pathogenic"	""
"0000016928"	"0"	"77"	"19"	"36322018"	"36322018"	"subst"	"0.00010159"	"00015"	"NPHS1_000115"	"g.36322018G>A"	"0/93 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Schoeb et al. 2010:20172850}"	""	"exon 27 nt3418(C>T): R1140C Arg1140>Cys; c.C3418T: c.R1140C"	"1 French  CNF family  (com-het) and 1 Amish CNF patient (het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35831116G>A"	""	"likely pathogenic"	""
"0000016929"	"0"	"99"	"19"	"36321994"	"36321994"	"subst"	"8.1279E-6"	"00015"	"NPHS1_000116"	"g.36321994G>A"	"0/93 CON"	"{PMID:Beltcheva et al. 2001:11317351}, {PMID:Schoeb et al. 2010:20172850}, {PMID:Kari et al. 2014:24902943}"	""	"3442C>T: Q1148X; c.C3442T: p.Q1148X"	"1 European CNF patient (com-het) and several CNF patients with non specified ethnicity"	"SUMMARY record"	"yes"	"rs150855173"	"0"	""	""	"g.35831092G>A"	""	"pathogenic"	""
"0000016930"	"0"	"99"	"19"	"36321958"	"36321958"	"subst"	"0.000101537"	"00015"	"NPHS1_000117"	"g.36321958G>A"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}, {PMID:Heeringa et al. 2008:18503012}, {PMID:Schoeb et al. 2010:20172850}, {PMID:Abid et al. 2012:22565185}"	""	"exon 27, nt3478(C>T): R1160X; c.C3478T: p.R1160X"	"10 Maltese (hom), 2 Indian (hom), 4 Pakistani (hom) and 1 Bangladeshi (hom) CNF patient. 2 European (com-het), 1 Serbian (com-het) and 1 Asian CNF patient (com-het). Also 1 Arabic (hom), 1 Italian (hom) and 1"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35831056G>A"	""	"pathogenic"	""
"0000016931"	"0"	"77"	"19"	"36321858"	"36321858"	"subst"	"0"	"00015"	"NPHS1_000118"	"g.36321858C>A"	""	"{PMID:Koziell et al. 2002:11854170}"	""	"nt3482 (G→T): Exon 27 donor, aberrant splicing"	"2 English CNF patients (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35830956C>A"	""	"likely pathogenic"	""
"0000016932"	"11"	"99"	"19"	"36317410"	"36317425"	"del"	"0"	"00015"	"NPHS1_000119"	"g.36317410_36317425del"	"0/78 CON"	"{PMID:Philippe et al. 2008:18614772}"	""	"c.3720_3735del16: p.L1240fs1286Xb, resulting protein lacks the terminal Val1241 residue and instead bears an insertion of 45 amino acids: NPIVLHLQEFTLHWSLSLQPGPSWLGELHKTQRDLVSGEDMEGAE."	"1 CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35826508_35826523del"	""	"pathogenic"	""
"0000016933"	"3"	"99"	"19"	"36333331"	"36333331"	"subst"	"0"	"00015"	"NPHS1_000120"	"g.36333331T>A"	"0/21 control individualss"	"{PMID:Aya 2000:10652016}"	""	"A>T Asp819Val"	"1 Japanese CNF family (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35842429T>A"	""	"pathogenic (recessive)"	""
"0000016934"	"3"	"77"	"19"	"36336422"	"36336457"	"del"	"0"	"00015"	"NPHS1_000121"	"g.36336422_36336457del"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.1759-15_1778del: Splice error"	"1 CNF patient of unknown origin (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35845520_35845555del"	""	"likely pathogenic"	""
"0000016935"	"0"	"77"	"19"	"36335219"	"36335219"	"subst"	"0"	"00015"	"NPHS1_000122"	"g.36335219A>G"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"2071+2T>C: Splice"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35844317A>G"	""	"likely pathogenic"	""
"0000016936"	"11"	"77"	"19"	"36335151"	"36335151"	"subst"	"8.17448E-6"	"00015"	"NPHS1_000123"	"g.36335151G>C"	"0/93 CON"	"{PMID:Philippe et al. 2008:18614772}"	""	"c.2072-6C>G"	"1 CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35844249G>C"	""	"likely pathogenic"	""
"0000016937"	"0"	"77"	"19"	"36333453"	"36333453"	"subst"	"8.94513E-5"	"00015"	"NPHS1_000124"	"g.36333453C>T"	"0/30 CON"	"{PMID:Lenkkeri at al. 1999:9915943}, {PMID:Koziell et al. 2002:11854170}"	""	"intron 18, nt2335-1(G>A): Splice-site mutation"	"1 North American CNF family (com-het), 5 English CNF patients (4 com-het and 1 hom) and 1 CNF patient of unknown origin (het)"	"SUMMARY record"	"yes"	"rs150038620"	""	""	""	"g.35842551C>T"	""	"likely pathogenic"	""
"0000016938"	"0"	"77"	"19"	"36332762"	"36332772"	"del"	"0"	"00015"	"NPHS1_000125"	"g.36332762_36332772del"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.2664-4_2670del: Splice error"	"1 Turkish CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35841860_35841870del"	""	"likely pathogenic"	""
"0000016939"	"3"	"77"	"19"	"36332612"	"36332612"	"subst"	"0"	"00015"	"NPHS1_000126"	"g.36332612C>T"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.2815+5G>A: Splice error"	"1 Turkish CNF family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35841710C>T"	""	"likely pathogenic"	""
"0000016940"	"0"	"77"	"19"	"36330506"	"36330516"	"del"	"0"	"00015"	"NPHS1_000127"	"g.36330506_36330516del"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"2664–4del11(H) = splice site"	"1 Turkish CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35839604_35839614del"	""	"likely pathogenic"	""
"0000016941"	"0"	"77"	"19"	"36330397"	"36330397"	"subst"	"0"	"00015"	"NPHS1_000128"	"g.36330397C>T"	"0/93 CON"	"{PMID:Schoeb et al. 2010:20172850}"	""	"c.2927+1G>A: Splice error"	"1 Romanian CNF patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35839495C>T"	""	"likely pathogenic"	""
"0000016943"	"0"	"77"	"19"	"36322050"	"36322050"	"subst"	"0"	"00015"	"NPHS1_000130"	"g.36322050T>C"	""	"{PMID:Beltcheva et al. 2001:11317351}"	""	"3388-2A>G: Splice"	"CNF patients with non specified number and origin."	"SUMMARY record"	"yes"	""	""	""	""	"g.35831148T>C"	""	"likely pathogenic"	""
"0000016944"	"0"	"77"	"19"	"36321954"	"36321954"	"subst"	"3.24902E-5"	"00015"	"NPHS1_000131"	"g.36321954C>A"	"0/93 CON"	"{PMID:Beltcheva et al. 2001:11317351}, {PMID:Schoeb et al. 2010:20172850}, {PMID:Kari et al. 2014:24902943}"	""	"3481+1G>T: Splice; c.3481+1G>T: Splice error"	"1 German CNF patient (hom) and several CNF patients with non specified ethnicity."	"SUMMARY record"	"yes"	"rs142883811"	"0"	""	""	"g.35831052C>A"	""	"likely pathogenic"	""
"0000016945"	"0"	"77"	"19"	"36317549"	"36317549"	"subst"	"8.19437E-6"	"00015"	"NPHS1_000132"	"g.36317549T>C"	""	"{PMID:Heeringa et al. 2008:18503012}"	""	"3482–2A>G: splice site"	"1 Hispanic CNF patient (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.35826647T>C"	""	"likely pathogenic"	""
"0000038110"	"11"	"99"	"19"	"36341921"	"36341921"	"subst"	"0"	"00746"	"NPHS1_000023"	"g.36341921G>C"	""	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35851019G>C"	""	"pathogenic"	""
"0000038111"	"21"	"99"	"19"	"36321958"	"36321958"	"subst"	"0.000101537"	"00746"	"NPHS1_000117"	"g.36321958G>A"	""	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35831056G>A"	""	"pathogenic"	""
"0000038112"	"3"	"75"	"19"	"36336673"	"36336673"	"subst"	"0"	"00746"	"NPHS1_000141"	"g.36336673G>T"	""	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35845771G>T"	""	"likely pathogenic"	""
"0000038118"	"3"	"77"	"19"	"36330189"	"36330189"	"subst"	"2.43637E-5"	"00015"	"NPHS1_000133"	"g.36330189C>A"	""	"{PMID:Abid et al. 2012:22565185}"	""	""	"1 early onset nephrotic syndrome patient from Pakistan (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35839287C>A"	""	"likely pathogenic"	""
"0000038121"	"3"	"77"	"19"	"36332757"	"36332758"	"dup"	"0"	"00015"	"NPHS1_000134"	"g.36332757_36332758dup"	""	"{PMID:Abid et al. 2012:22565185}"	""	"c.2673dupCA"	"1 early onset nephrotic syndrome patient from Pakistan (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35841855_35841856dup"	""	"likely pathogenic"	""
"0000038122"	"3"	"77"	"19"	"36333089"	"36333089"	"subst"	"1.66842E-5"	"00015"	"NPHS1_000135"	"g.36333089C>T"	""	"{PMID:Abid et al. 2012:22565185}"	""	"c.2600G>A; p.G867P"	"1 early onset nephrotic syndrome patient from Pakistan (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35842187C>T"	""	"likely pathogenic"	""
"0000038136"	"1"	"77"	"19"	"36340454"	"36340454"	"subst"	"1.21846E-5"	"00015"	"NPHS1_000136"	"g.36340454A>G"	""	"{PMID:Abid et al. 2012:22565185}"	""	""	"1 early onset nephrotic syndrome patient from Pakistan (com-het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35849552A>G"	""	"likely pathogenic"	""
"0000038137"	"2"	"77"	"19"	"36332698"	"36332698"	"subst"	"4.06253E-5"	"00015"	"NPHS1_000137"	"g.36332698C>T"	""	"{PMID:Abid et al. 2012:22565185}"	""	""	"1 early onset nephrotic syndrome patient from Pakistan (com-het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35841796C>T"	""	"likely pathogenic"	""
"0000038138"	"3"	"00"	"19"	"0"	"0"	""	"0"	"00015"	"NPHS1_000138"	"g.?"	""	"{PMID:Abid et al. 2012:22565185}"	""	"c.3426A>G; p.T1182A"	"variant not possible (incorrect nucleotide/amino acid); 1 early onset nephrotic syndrome patient from Pakistan (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	""	""	""	""
"0000038139"	"3"	"77"	"19"	"36336353"	"36336353"	"subst"	"0"	"00015"	"NPHS1_000139"	"g.36336353T>C"	""	"{PMID:Mbarek et al. 2011:21125408}"	""	""	"1 Tunisian CNF patient (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35845451T>C"	""	"likely pathogenic"	""
"0000038140"	"3"	"77"	"19"	"36339537"	"36339537"	"subst"	"0"	"00015"	"NPHS1_000140"	"g.36339537A>G"	""	"{PMID:Mbarek et al. 2011:21125408}"	""	""	"2 Tunisian siblings with CNF (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35848635A>G"	""	"likely pathogenic"	""
"0000038141"	"0"	"77"	"19"	"36333370"	"36333370"	"subst"	"0"	"00015"	"NPHS1_000142"	"g.36333370G>C"	""	"{PMID:Santin et al. 2009:19812541}"	""	""	"1 Spanish CNF patient (com-het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35842468G>C"	""	"likely pathogenic"	""
"0000038142"	"0"	"77"	"19"	"36322242"	"36322242"	"subst"	"0"	"00015"	"NPHS1_000143"	"g.36322242C>A"	""	"{PMID:Santin et al. 2009:19812541}"	""	""	"1 Spanish CNF patient (com-het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35831340C>A"	""	"likely pathogenic"	""
"0000038144"	"3"	"77"	"19"	"36333150"	"36333153"	"del"	"0"	"00015"	"NPHS1_000144"	"g.36333150_36333153del"	""	"{PMID:Santin et al. 2009:19812541}"	""	""	"1 Spanish patient (hom) with probable CNF"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35842248_35842251del"	""	"likely pathogenic"	""
"0000038153"	"11"	"99"	"19"	"36342529"	"36342529"	"del"	"0"	"00015"	"NPHS1_000145"	"g.36342529del"	""	"{PMID:Sabi et al. 2013:23932794}"	""	""	"1 African patient (com-het) with probable CNF"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35851627del"	""	"pathogenic"	""
"0000038898"	"11"	"90"	"19"	"36341874"	"36341876"	"del"	"0"	"00746"	"NPHS1_000146"	"g.36341874_36341876del"	""	"{PMID:Santín et al. 2011:21415313}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35850972_35850974del"	""	"pathogenic"	""
"0000038899"	"21"	"97"	"19"	"36322587"	"36322587"	"dup"	"0"	"00746"	"NPHS1_000112"	"g.36322587dup"	""	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35831685dup"	""	"pathogenic"	""
"0000039311"	"21"	"90"	"19"	"36336627"	"36336627"	"subst"	"3.25603E-5"	"00746"	"NPHS1_000070"	"g.36336627G>T"	""	"{PMID:Santín et al. 2009:19812541}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35845725G>T"	""	"pathogenic"	""
"0000039312"	"11"	"70"	"19"	"36336332"	"36336332"	"subst"	"3.66136E-5"	"00746"	"NPHS1_000077"	"g.36336332C>A"	""	"{PMID:Santín et al. 2011:19812541}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35845430C>A"	""	"likely pathogenic"	""
"0000039611"	"21"	"90"	"19"	"36336627"	"36336627"	"subst"	"3.25603E-5"	"00746"	"NPHS1_000070"	"g.36336627G>T"	""	"{PMID:Santín et al. 2009:19812541}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35845725G>T"	""	"pathogenic"	""
"0000039612"	"11"	"90"	"19"	"36322242"	"36322242"	"subst"	"0"	"00746"	"NPHS1_000143"	"g.36322242C>A"	""	"{PMID:Santín et al. 2009:19812541}"	""	""	""	"Germline"	""	""	"0"	"fundacio_puigvert"	""	"g.35831340C>A"	""	"pathogenic"	""
"0000039614"	"11"	"70"	"19"	"36339610"	"36339610"	"subst"	"4.06213E-5"	"00746"	"NPHS1_000047"	"g.36339610G>A"	""	"{PMID:Santín et al. 2009:19812541}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35848708G>A"	""	"likely pathogenic"	""
"0000039615"	"21"	"50"	"19"	"36342200"	"36342200"	"subst"	"0"	"00746"	"NPHS1_000147"	"g.36342200C>T"	""	"{PMID:Santín et al. 2009:19812541}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35851298C>T"	""	"VUS"	""
"0000039619"	"3"	"90"	"19"	"36336265"	"36336265"	"subst"	"0"	"00746"	"NPHS1_000148"	"g.36336265C>T"	""	"{PMID:Bullich 2015:25407002}, {DOI:Bullich 2015:10.1038/ejhg.2014.252}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35845363C>T"	""	"pathogenic"	""
"0000040401"	"3"	"90"	"19"	"36322587"	"36322587"	"dup"	"0"	"00746"	"NPHS1_000112"	"g.36322587dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35831685dup"	""	"pathogenic"	""
"0000046798"	"3"	"77"	"19"	"36334497"	"36334497"	"dup"	"0"	"00015"	"NPHS1_000149"	"g.36334497dup"	""	"{PMID:Ameli et al. 2013:24089175}"	""	""	"1 Iranian CNF patient (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.35843595dup"	""	"likely pathogenic"	""
"0000046799"	"3"	"77"	"19"	"36336422"	"36336457"	"del"	"0"	"00015"	"NPHS1_000150"	"g.36336422_36336457del"	""	"{PMID:Kari et al. 2014:24902943}"	""	""	"1 CNF patient (hom)"	"SUMMARY record"	""	""	"0"	""	""	"g.35845520_35845555del"	""	"likely pathogenic"	""
"0000047879"	"3"	"50"	"19"	"36340187"	"36340187"	"subst"	"0.0149105"	"01161"	"NPHS1_000006"	"g.36340187G>C"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.35849285G>C"	""	"VUS"	""
"0000047986"	"3"	"50"	"19"	"36340187"	"36340187"	"subst"	"0.0149105"	"01161"	"NPHS1_000006"	"g.36340187G>C"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.35849285G>C"	""	"VUS"	""
"0000047999"	"0"	"50"	"19"	"36340187"	"36340187"	"subst"	"0.0149105"	"01161"	"NPHS1_000006"	"g.36340187G>C"	""	""	""	""	""	"Germline"	"-"	""	"0"	""	""	"g.35849285G>C"	""	"VUS"	""
"0000048003"	"0"	"50"	"19"	"36340187"	"36340187"	"subst"	"0.0149105"	"01161"	"NPHS1_000006"	"g.36340187G>C"	""	""	""	""	""	"Germline"	"-"	""	"0"	""	""	"g.35849285G>C"	""	"VUS"	""
"0000058531"	"11"	"90"	"19"	"36338942"	"36338942"	"subst"	"0"	"00006"	"NPHS1_000151"	"g.36338942C>T"	""	"{PMID:Slavotinek 2015:25557780}, {DOI:Slavotinek 2015:10.1016/j.ajhg.2014.11.013}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35848040C>T"	""	"pathogenic"	""
"0000079520"	"21"	"90"	"19"	"36333296"	"36333296"	"subst"	"2.43855E-5"	"00006"	"NPHS1_000097"	"g.36333296G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35842394G>A"	""	"pathogenic"	""
"0000079684"	"11"	"90"	"19"	"36333453"	"36333453"	"subst"	"8.94513E-5"	"00006"	"NPHS1_000124"	"g.36333453C>T"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"splice variant"	"Germline"	""	""	"0"	""	""	"g.35842551C>T"	""	"pathogenic"	""
"0000090045"	"11"	"70"	"19"	"36330425"	"36330425"	"subst"	"0"	"01239"	"NPHS1_000152"	"g.36330425C>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35839523C>A"	""	"likely pathogenic"	""
"0000090046"	"10"	"70"	"19"	"36336627"	"36336627"	"subst"	"3.25603E-5"	"01239"	"NPHS1_000070"	"g.36336627G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35845725G>T"	""	"likely pathogenic"	""
"0000251116"	"0"	"10"	"19"	"36339295"	"36339295"	"subst"	"0.00800299"	"02326"	"NPHS1_000162"	"g.36339295A>G"	""	""	""	"NPHS1(NM_004646.3):c.1175T>C (p.L392P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848393A>G"	""	"benign"	""
"0000296596"	"0"	"90"	"19"	"36339571"	"36339571"	"subst"	"0"	"02325"	"NPHS1_000055"	"g.36339571G>A"	""	""	""	"NPHS1(NM_004646.4):c.1138C>T (p.Q380*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848669G>A"	""	"pathogenic"	""
"0000296597"	"0"	"90"	"19"	"36342511"	"36342512"	"del"	"0.00114763"	"02325"	"NPHS1_000169"	"g.36342511_36342512del"	""	""	""	"NPHS1(NM_004646.4):c.121_122delCT (p.L41Dfs*50)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851609_35851610del"	""	"pathogenic"	""
"0000296598"	"0"	"10"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"02325"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	"NPHS1(NM_004646.3):c.1223G>A (p.R408Q), NPHS1(NM_004646.4):c.1223G>A (p.R408Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848345C>T"	""	"benign"	""
"0000296599"	"0"	"70"	"19"	"36336621"	"36336621"	"subst"	"0"	"02325"	"NPHS1_000071"	"g.36336621G>C"	""	""	""	"NPHS1(NM_004646.4):c.1707C>G (p.S569R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35845719G>C"	""	"likely pathogenic"	""
"0000296600"	"0"	"10"	"19"	"36334419"	"36334419"	"subst"	"0.0775781"	"02325"	"NPHS1_000160"	"g.36334419G>A"	""	""	""	"NPHS1(NM_004646.3):c.2289C>T (p.V763=), NPHS1(NM_004646.4):c.2289C>T (p.V763=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35843517G>A"	""	"benign"	""
"0000296601"	"0"	"10"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"02325"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	"NPHS1(NM_004646.3):c.3230A>G (p.N1077S), NPHS1(NM_004646.4):c.3230A>G (p.N1077S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831699T>C"	""	"benign"	""
"0000296602"	"0"	"90"	"19"	"36322260"	"36322260"	"subst"	"0.000166506"	"02325"	"NPHS1_000113"	"g.36322260G>A"	""	""	""	"NPHS1(NM_004646.4):c.3325C>T (p.R1109*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831358G>A"	""	"pathogenic"	""
"0000296603"	"0"	"10"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"02325"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	"NPHS1(NM_004646.3):c.349G>A (p.E117K), NPHS1(NM_004646.4):c.349G>A (p.E117K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851310C>T"	""	"benign"	""
"0000300373"	"0"	"10"	"19"	"36342800"	"36342800"	"subst"	"0"	"02326"	"NPHS1_000172"	"g.36342800C>T"	""	""	""	"NPHS1(NM_004646.3):c.-61G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851898C>T"	""	"benign"	""
"0000300374"	"0"	"10"	"19"	"36339810"	"36339810"	"subst"	"0"	"02326"	"NPHS1_000164"	"g.36339810T>C"	""	""	""	"NPHS1(NM_004646.3):c.1012+68A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848908T>C"	""	"benign"	""
"0000300375"	"0"	"30"	"19"	"36339583"	"36339583"	"subst"	"8.12651E-6"	"02326"	"NPHS1_000051"	"g.36339583G>C"	""	""	""	"NPHS1(NM_004646.3):c.1126C>G (p.L376V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848681G>C"	""	"likely benign"	""
"0000300376"	"0"	"10"	"19"	"36339531"	"36339531"	"subst"	"0.00391501"	"02326"	"NPHS1_000163"	"g.36339531C>T"	""	""	""	"NPHS1(NM_004646.3):c.1170+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848629C>T"	""	"benign"	""
"0000300377"	"0"	"10"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"02326"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	"NPHS1(NM_004646.3):c.1223G>A (p.R408Q), NPHS1(NM_004646.4):c.1223G>A (p.R408Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848345C>T"	""	"benign"	""
"0000300378"	"0"	"10"	"19"	"36342723"	"36342723"	"subst"	"6.10467E-5"	"02326"	"NPHS1_000171"	"g.36342723G>A"	""	""	""	"NPHS1(NM_004646.3):c.17C>T (p.T6M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851821G>A"	""	"benign"	""
"0000300379"	"0"	"10"	"19"	"36336260"	"36336260"	"subst"	"0.00948091"	"02326"	"NPHS1_000161"	"g.36336260G>A"	""	""	""	"NPHS1(NM_004646.3):c.1930+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35845358G>A"	""	"benign"	""
"0000300380"	"0"	"10"	"19"	"36334419"	"36334419"	"subst"	"0.0775781"	"02326"	"NPHS1_000160"	"g.36334419G>A"	""	""	""	"NPHS1(NM_004646.3):c.2289C>T (p.V763=), NPHS1(NM_004646.4):c.2289C>T (p.V763=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35843517G>A"	""	"benign"	""
"0000300381"	"0"	"10"	"19"	"36330374"	"36330374"	"subst"	"0.00398769"	"02326"	"NPHS1_000159"	"g.36330374C>G"	""	""	""	"NPHS1(NM_004646.3):c.2927+24G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35839472C>G"	""	"benign"	""
"0000300382"	"0"	"10"	"19"	"36322601"	"36322601"	"subst"	"0.0974429"	"02326"	"NPHS1_000002"	"g.36322601T>C"	""	""	""	"NPHS1(NM_004646.3):c.3230A>G (p.N1077S), NPHS1(NM_004646.4):c.3230A>G (p.N1077S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831699T>C"	""	"benign"	""
"0000300384"	"0"	"10"	"19"	"36322509"	"36322509"	"subst"	"0.32945"	"02326"	"NPHS1_000157"	"g.36322509G>A"	""	""	""	"NPHS1(NM_004646.3):c.3286+36C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831607G>A"	""	"benign"	""
"0000300385"	"0"	"10"	"19"	"36322469"	"36322469"	"subst"	"0"	"02326"	"NPHS1_000156"	"g.36322469C>T"	""	""	""	"NPHS1(NM_004646.3):c.3287-67G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831567C>T"	""	"benign"	""
"0000300386"	"0"	"10"	"19"	"36322270"	"36322270"	"subst"	"0.400211"	"02326"	"NPHS1_000155"	"g.36322270C>T"	""	""	""	"NPHS1(NM_004646.3):c.3315G>A (p.S1105=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831368C>T"	""	"benign"	""
"0000300387"	"0"	"10"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"02326"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	"NPHS1(NM_004646.3):c.349G>A (p.E117K), NPHS1(NM_004646.4):c.349G>A (p.E117K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851310C>T"	""	"benign"	""
"0000300388"	"0"	"10"	"19"	"36317556"	"36317556"	"subst"	"0.0420827"	"02326"	"NPHS1_000153"	"g.36317556C>A"	""	""	""	"NPHS1(NM_004646.3):c.3595-9G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35826654C>A"	""	"benign"	""
"0000300389"	"0"	"10"	"19"	"36342149"	"36342149"	"subst"	"0.00486388"	"02326"	"NPHS1_000168"	"g.36342149G>A"	""	""	""	"NPHS1(NM_004646.3):c.397+15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851247G>A"	""	"benign"	""
"0000300390"	"0"	"10"	"19"	"36341780"	"36341780"	"subst"	"0"	"02326"	"NPHS1_000167"	"g.36341780G>A"	""	""	""	"NPHS1(NM_004646.3):c.526+83C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35850878G>A"	""	"benign"	""
"0000300391"	"0"	"10"	"19"	"36341311"	"36341311"	"subst"	"0.00610717"	"02326"	"NPHS1_000166"	"g.36341311T>A"	""	""	""	"NPHS1(NM_004646.3):c.563A>T (p.(Asn188Ile), p.N188I), NPHS1(NM_004646.4):c.563A>T (p.N188I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35850409T>A"	""	"benign"	""
"0000300392"	"0"	"10"	"19"	"36342579"	"36342579"	"subst"	"0.00442094"	"02326"	"NPHS1_000170"	"g.36342579G>C"	""	""	""	"NPHS1(NM_004646.3):c.59-5C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851677G>C"	""	"benign"	""
"0000300393"	"0"	"10"	"19"	"36340187"	"36340187"	"subst"	"0.0149105"	"02326"	"NPHS1_000006"	"g.36340187G>C"	""	""	""	"NPHS1(NM_004646.3):c.791C>G (p.P264R), NPHS1(NM_004646.4):c.791C>G (p.P264R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35849285G>C"	""	"benign"	""
"0000300394"	"0"	"10"	"19"	"36340009"	"36340009"	"subst"	"0.00790688"	"02326"	"NPHS1_000165"	"g.36340009G>A"	""	""	""	"NPHS1(NM_004646.3):c.881C>T (p.T294I), NPHS1(NM_004646.4):c.881C>T (p.T294I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35849107G>A"	""	"benign"	""
"0000337855"	"0"	"10"	"19"	"36317556"	"36317556"	"subst"	"0.0420827"	"02327"	"NPHS1_000153"	"g.36317556C>A"	""	""	""	"NPHS1(NM_004646.3):c.3595-9G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35826654C>A"	""	"benign"	""
"0000337856"	"0"	"90"	"19"	"36321954"	"36321954"	"subst"	"3.24902E-5"	"02327"	"NPHS1_000131"	"g.36321954C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831052C>A"	""	"pathogenic"	""
"0000337857"	"0"	"10"	"19"	"36322316"	"36322316"	"subst"	"2.03067E-5"	"02327"	"NPHS1_000174"	"g.36322316C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831414C>T"	""	"benign"	""
"0000337858"	"0"	"10"	"19"	"36333202"	"36333202"	"subst"	"0.000126993"	"02327"	"NPHS1_000177"	"g.36333202C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35842300C>T"	""	"benign"	""
"0000337859"	"0"	"90"	"19"	"36333453"	"36333453"	"subst"	"8.94513E-5"	"02327"	"NPHS1_000124"	"g.36333453C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35842551C>T"	""	"pathogenic"	""
"0000337860"	"0"	"10"	"19"	"36340132"	"36340132"	"subst"	"0.00104122"	"02327"	"NPHS1_000187"	"g.36340132C>T"	""	""	""	"NPHS1(NM_004646.3):c.840+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35849230C>T"	""	"benign"	""
"0000337861"	"0"	"50"	"19"	"36342356"	"36342356"	"subst"	"0"	"02327"	"NPHS1_000191"	"g.36342356T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851454T>A"	""	"VUS"	""
"0000337862"	"0"	"10"	"19"	"36342579"	"36342579"	"subst"	"0.00442094"	"02327"	"NPHS1_000170"	"g.36342579G>C"	""	""	""	"NPHS1(NM_004646.3):c.59-5C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851677G>C"	""	"benign"	""
"0000339907"	"0"	"10"	"19"	"36322270"	"36322270"	"subst"	"0.400211"	"02327"	"NPHS1_000155"	"g.36322270C>T"	""	""	""	"NPHS1(NM_004646.3):c.3315G>A (p.S1105=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831368C>T"	""	"benign"	""
"0000339908"	"0"	"10"	"19"	"36334419"	"36334419"	"subst"	"0.0775781"	"02327"	"NPHS1_000160"	"g.36334419G>A"	""	""	""	"NPHS1(NM_004646.3):c.2289C>T (p.V763=), NPHS1(NM_004646.4):c.2289C>T (p.V763=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35843517G>A"	""	"benign"	""
"0000339909"	"0"	"10"	"19"	"36334485"	"36334485"	"subst"	"0.00657045"	"02327"	"NPHS1_000178"	"g.36334485G>A"	""	""	""	"NPHS1(NM_004646.4):c.2223C>T (p.(Thr741=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35843583G>A"	""	"benign"	""
"0000339910"	"0"	"10"	"19"	"36336274"	"36336274"	"subst"	"0.00107697"	"02327"	"NPHS1_000180"	"g.36336274T>C"	""	""	""	"NPHS1(NM_004646.3):c.1926A>G (p.V642=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35845372T>C"	""	"benign"	""
"0000339911"	"0"	"10"	"19"	"36339063"	"36339063"	"subst"	"0.0453341"	"02327"	"NPHS1_000183"	"g.36339063G>A"	""	""	""	"NPHS1(NM_004646.4):c.1320C>T (p.(Pro440=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848161G>A"	""	"benign"	""
"0000339912"	"0"	"10"	"19"	"36339599"	"36339599"	"subst"	"0.00107239"	"02327"	"NPHS1_000186"	"g.36339599A>G"	""	""	""	"NPHS1(NM_004646.3):c.1110T>C (p.V370=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848697A>G"	""	"benign"	""
"0000339913"	"0"	"10"	"19"	"36342267"	"36342267"	"subst"	"0.0210204"	"02327"	"NPHS1_000190"	"g.36342267G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851365G>A"	""	"benign"	""
"0000341719"	"0"	"90"	"19"	"36322260"	"36322260"	"subst"	"0.000166506"	"02327"	"NPHS1_000113"	"g.36322260G>A"	""	""	""	"NPHS1(NM_004646.4):c.3325C>T (p.R1109*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831358G>A"	""	"pathogenic"	""
"0000341761"	"0"	"90"	"19"	"36321958"	"36321958"	"subst"	"0.000101537"	"02327"	"NPHS1_000117"	"g.36321958G>A"	""	""	""	"NPHS1(NM_004646.4):c.3478C>T (p.R1160*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831056G>A"	""	"pathogenic"	""
"0000342843"	"0"	"10"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"02327"	"NPHS1_000003"	"g.36339247C>T"	""	""	""	"NPHS1(NM_004646.3):c.1223G>A (p.R408Q), NPHS1(NM_004646.4):c.1223G>A (p.R408Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848345C>T"	""	"benign"	""
"0000343140"	"0"	"70"	"19"	"36336572"	"36336572"	"subst"	"0"	"02327"	"NPHS1_000181"	"g.36336572T>C"	""	""	""	"NPHS1(NM_004646.3):c.1756A>G (p.R586G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35845670T>C"	""	"likely pathogenic"	""
"0000343293"	"0"	"90"	"19"	"36335086"	"36335086"	"subst"	"0"	"02327"	"NPHS1_000179"	"g.36335086G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35844184G>T"	""	"pathogenic"	""
"0000343327"	"0"	"90"	"19"	"36334481"	"36334481"	"subst"	"3.24865E-5"	"02327"	"NPHS1_000090"	"g.36334481G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35843579G>A"	""	"pathogenic"	""
"0000343403"	"0"	"90"	"19"	"36333296"	"36333296"	"subst"	"2.43855E-5"	"02327"	"NPHS1_000097"	"g.36333296G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35842394G>A"	""	"pathogenic"	""
"0000344434"	"0"	"70"	"19"	"36336332"	"36336332"	"subst"	"3.66136E-5"	"02327"	"NPHS1_000077"	"g.36336332C>A"	""	""	""	"NPHS1(NM_004646.3):c.1868G>T (p.C623F), NPHS1(NM_004646.4):c.1868G>T (p.(Cys623Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35845430C>A"	""	"likely pathogenic"	""
"0000344509"	"0"	"90"	"19"	"36321994"	"36321994"	"subst"	"8.1279E-6"	"02327"	"NPHS1_000116"	"g.36321994G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35831092G>A"	""	"pathogenic"	""
"0000345075"	"0"	"10"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"02327"	"NPHS1_000001"	"g.36342212C>T"	""	""	""	"NPHS1(NM_004646.3):c.349G>A (p.E117K), NPHS1(NM_004646.4):c.349G>A (p.E117K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851310C>T"	""	"benign"	""
"0000346996"	"0"	"90"	"19"	"36340520"	"36340520"	"subst"	"1.21858E-5"	"02327"	"NPHS1_000189"	"g.36340520A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35849618A>C"	""	"pathogenic"	""
"0000348837"	"0"	"50"	"19"	"36340506"	"36340506"	"subst"	"0.00109262"	"02327"	"NPHS1_000005"	"g.36340506A>C"	""	""	""	"NPHS1(NM_004646.3):c.658T>G (p.S220A), NPHS1(NM_004646.4):c.658T>G (p.(Ser220Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35849604A>C"	""	"VUS"	""
"0000348980"	"0"	"90"	"19"	"36339278"	"36339278"	"subst"	"0"	"02327"	"NPHS1_000185"	"g.36339278A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848376A>G"	""	"pathogenic"	""
"0000348984"	"0"	"50"	"19"	"36339271"	"36339271"	"subst"	"0"	"02327"	"NPHS1_000184"	"g.36339271G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35848369G>T"	""	"VUS"	""
"0000349099"	"0"	"70"	"19"	"36336613"	"36336613"	"subst"	"8.14564E-6"	"02327"	"NPHS1_000072"	"g.36336613C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35845711C>T"	""	"likely pathogenic"	""
"0000349664"	"0"	"90"	"19"	"36330304"	"36330304"	"dup"	"0"	"02327"	"NPHS1_000110"	"g.36330304dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35839402dup"	""	"pathogenic"	""
"0000349742"	"0"	"70"	"19"	"36340237"	"36340237"	"subst"	"0"	"02327"	"NPHS1_000188"	"g.36340237C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35849335C>A"	""	"likely pathogenic"	""
"0000349892"	"0"	"70"	"19"	"36321791"	"36321791"	"subst"	"0"	"02327"	"NPHS1_000173"	"g.36321791G>T"	""	""	""	"NPHS1(NM_004646.4):c.3549C>A (p.(Tyr1183*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35830889G>T"	""	"likely pathogenic"	""
"0000349931"	"0"	"90"	"19"	"36341921"	"36341921"	"subst"	"0"	"02327"	"NPHS1_000023"	"g.36341921G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35851019G>C"	""	"pathogenic"	""
"0000350595"	"0"	"30"	"19"	"36336625"	"36336625"	"subst"	"6.91833E-5"	"02327"	"NPHS1_000182"	"g.36336625A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.35845723A>G"	""	"likely benign"	""
"0000464269"	"3"	"30"	"19"	"36339044"	"36339044"	"subst"	"0.00301445"	"00006"	"NPHS1_000193"	"g.36339044C>T"	""	"{PMID:Aya 2000:10652016}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35848142C>T"	""	"likely benign"	""
"0000464270"	"3"	"30"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00006"	"NPHS1_000001"	"g.36342212C>T"	""	"{PMID:Aya 2000:10652016}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.35851310C>T"	""	"likely benign"	""
"0000464271"	"3"	"70"	"19"	"36333331"	"36333331"	"subst"	"0"	"00006"	"NPHS1_000120"	"g.36333331T>A"	""	"{PMID:Aya 2000:10652016}"	""	"Asp819Val"	""	"Germline"	""	""	"0"	""	""	"g.35842429T>A"	""	"likely pathogenic (recessive)"	""
"0000567010"	"0"	"90"	"19"	"36321958"	"36321958"	"subst"	"0.000101537"	"02325"	"NPHS1_000117"	"g.36321958G>A"	""	""	""	"NPHS1(NM_004646.4):c.3478C>T (p.R1160*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35831056G>A"	""	"pathogenic"	""
"0000567011"	"0"	"30"	"19"	"36322018"	"36322018"	"subst"	"0.00096307"	"01804"	"NPHS1_000194"	"g.36322018G>T"	""	""	""	"NPHS1(NM_004646.3):c.3418C>A (p.(Arg1140Ser), p.R1140S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35831116G>T"	""	"likely benign"	""
"0000567012"	"0"	"30"	"19"	"36322221"	"36322221"	"subst"	"2.03042E-5"	"01804"	"NPHS1_000195"	"g.36322221C>G"	""	""	""	"NPHS1(NM_004646.3):c.3364G>C (p.(Glu1122Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35831319C>G"	""	"likely benign"	""
"0000567013"	"0"	"90"	"19"	"36322228"	"36322229"	"dup"	"0"	"01943"	"NPHS1_000114"	"g.36322228_36322229dup"	""	""	""	"NPHS1(NM_004646.3):c.3356_3357dupGG (p.T1120Gfs*24)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35831326_35831327dup"	""	"pathogenic"	""
"0000567014"	"0"	"90"	"19"	"36322587"	"36322587"	"dup"	"0"	"02326"	"NPHS1_000112"	"g.36322587dup"	""	""	""	"NPHS1(NM_004646.3):c.3250dupG (p.V1084Gfs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35831685dup"	""	"pathogenic"	""
"0000567015"	"0"	"50"	"19"	"36330148"	"36330148"	"subst"	"6.90389E-5"	"02327"	"NPHS1_000196"	"g.36330148T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35839246T>C"	""	"VUS"	""
"0000567016"	"0"	"30"	"19"	"36333069"	"36333069"	"subst"	"0"	"01804"	"NPHS1_000197"	"g.36333069T>C"	""	""	""	"NPHS1(NM_004646.3):c.2620A>G (p.(Thr874Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35842167T>C"	""	"likely benign"	""
"0000567017"	"0"	"30"	"19"	"36333389"	"36333389"	"subst"	"0.00230682"	"01804"	"NPHS1_000198"	"g.36333389G>A"	""	""	""	"NPHS1(NM_004646.3):c.2398C>T (p.(Arg800Cys), p.R800C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35842487G>A"	""	"likely benign"	""
"0000567019"	"0"	"10"	"19"	"36334594"	"36334594"	"subst"	"0"	"02326"	"NPHS1_000199"	"g.36334594G>A"	""	""	""	"NPHS1(NM_004646.3):c.2213-99C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35843692="	""	"benign"	""
"0000567022"	"0"	"50"	"19"	"36336378"	"36336378"	"subst"	"0.000628746"	"02325"	"NPHS1_000200"	"g.36336378C>T"	""	""	""	"NPHS1(NM_004646.4):c.1822G>A (p.V608I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35845476C>T"	""	"VUS"	""
"0000567025"	"0"	"30"	"19"	"36340175"	"36340175"	"subst"	"0.00132425"	"01804"	"NPHS1_000202"	"g.36340175C>T"	""	""	""	"NPHS1(NM_004646.3):c.803G>A (p.(Arg268Gln), p.R268Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35849273C>T"	""	"likely benign"	""
"0000567027"	"0"	"30"	"19"	"36340508"	"36340508"	"subst"	"2.03112E-5"	"01804"	"NPHS1_000203"	"g.36340508G>A"	""	""	""	"NPHS1(NM_004646.3):c.656C>T (p.(Ala219Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35849606G>A"	""	"likely benign"	""
"0000617554"	"0"	"90"	"19"	"36322587"	"36322587"	"dup"	"0"	"01943"	"NPHS1_000112"	"g.36322587dup"	""	""	""	"NPHS1(NM_004646.3):c.3250dupG (p.V1084Gfs*12)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35831685dup"	""	"pathogenic"	""
"0000617555"	"0"	"50"	"19"	"36339212"	"36339212"	"subst"	"8.12288E-6"	"02327"	"NPHS1_000204"	"g.36339212A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35848310A>C"	""	"VUS"	""
"0000623985"	"0"	"30"	"19"	"36340187"	"36340187"	"subst"	"0.0149105"	"02325"	"NPHS1_000006"	"g.36340187G>C"	""	""	""	"NPHS1(NM_004646.3):c.791C>G (p.P264R), NPHS1(NM_004646.4):c.791C>G (p.P264R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35849285G>C"	""	"likely benign"	""
"0000649940"	"1"	"50"	"19"	"36332686"	"36332686"	"subst"	"0.00193321"	"03575"	"NPHS1_000205"	"g.36332686C>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs138173172}"	"Germline"	""	"rs138173172"	"0"	""	""	"g.35841784C>A"	""	"VUS"	""
"0000649941"	"1"	"50"	"19"	"36333323"	"36333323"	"subst"	"1.62452E-5"	"03575"	"NPHS1_000206"	"g.36333323C>T"	"1/2790 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs267606918}"	"Germline"	""	"rs267606918"	"0"	""	""	"g.35842421C>T"	""	"VUS"	""
"0000649942"	"1"	"50"	"19"	"36333331"	"36333331"	"subst"	"0"	"03575"	"NPHS1_000120"	"g.36333331T>A"	"1/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"no interpretation available; 1 heterozygous, no homozygous; {DB:CLININrs387906357}"	"Germline"	""	"rs387906357"	"0"	""	""	"g.35842429T>A"	""	"VUS"	""
"0000649943"	"1"	"70"	"19"	"36335249"	"36335249"	"subst"	"0"	"03575"	"NPHS1_000082"	"g.36335249C>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs386833900}"	"Germline"	""	"rs386833900"	"0"	""	""	"g.35844347C>A"	""	"likely pathogenic"	""
"0000649944"	"1"	"70"	"19"	"36336332"	"36336332"	"subst"	"3.66136E-5"	"03575"	"NPHS1_000077"	"g.36336332C>A"	"9/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"9 heterozygous, no homozygous; {DB:CLININrs386833895}"	"Germline"	""	"rs386833895"	"0"	""	""	"g.35845430C>A"	""	"likely pathogenic"	""
"0000649945"	"1"	"50"	"19"	"36339044"	"36339044"	"subst"	"0.00301445"	"03575"	"NPHS1_000193"	"g.36339044C>T"	"13/2769 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 13 heterozygous, no homozygous; {DB:CLININrs28939695}"	"Germline"	""	"rs28939695"	"0"	""	""	"g.35848142C>T"	""	"VUS"	""
"0000649946"	"1"	"30"	"19"	"36339247"	"36339247"	"subst"	"0.0491019"	"03575"	"NPHS1_000003"	"g.36339247C>T"	"123/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"123 heterozygous, no homozygous; {DB:CLININrs33950747}"	"Germline"	""	"rs33950747"	"0"	""	""	"g.35848345C>T"	""	"likely benign"	""
"0000649947"	"1"	"70"	"19"	"36339251"	"36339251"	"subst"	"2.03082E-5"	"03575"	"NPHS1_000056"	"g.36339251G>A"	"1/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs386833874}"	"Germline"	""	"rs386833874"	"0"	""	""	"g.35848349G>A"	""	"likely pathogenic"	""
"0000649948"	"1"	"10"	"19"	"36339295"	"36339295"	"subst"	"0.00800299"	"03575"	"NPHS1_000162"	"g.36339295A>G"	"17/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"17 heterozygous, no homozygous; {DB:CLININrs34320609}"	"Germline"	""	"rs34320609"	"0"	""	""	"g.35848393A>G"	""	"benign"	""
"0000649949"	"1"	"90"	"19"	"36339610"	"36339610"	"subst"	"4.06213E-5"	"03575"	"NPHS1_000047"	"g.36339610G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"2 heterozygous, no homozygous; {DB:CLININrs386833865}"	"Germline"	""	"rs386833865"	"0"	""	""	"g.35848708G>A"	""	"pathogenic"	""
"0000649950"	"1"	"70"	"19"	"36339690"	"36339690"	"subst"	"1.2185E-5"	"03575"	"NPHS1_000043"	"g.36339690G>T"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs386833861}"	"Germline"	""	"rs386833861"	"0"	""	""	"g.35848788G>T"	""	"likely pathogenic"	""
"0000649951"	"1"	"10"	"19"	"36340009"	"36340009"	"subst"	"0.00790688"	"03575"	"NPHS1_000165"	"g.36340009G>A"	"19/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"19 heterozygous; {DB:CLININrs113825926}"	"Germline"	""	"rs113825926"	"0"	""	""	"g.35849107G>A"	""	"benign"	""
"0000649952"	"1"	"70"	"19"	"36340212"	"36340212"	"subst"	"0.00023717"	"03575"	"NPHS1_000039"	"g.36340212G>A"	"7/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"7 heterozygous, no homozygous; {DB:CLININrs386833960}"	"Germline"	""	"rs386833960"	"0"	""	""	"g.35849310G>A"	""	"likely pathogenic"	""
"0000658549"	"0"	"30"	"19"	"36322018"	"36322018"	"subst"	"0.00096307"	"02326"	"NPHS1_000194"	"g.36322018G>T"	""	""	""	"NPHS1(NM_004646.3):c.3418C>A (p.(Arg1140Ser), p.R1140S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.35831116G>T"	""	"likely benign"	""
"0000665817"	"0"	"90"	"19"	"36341874"	"36341876"	"del"	"0"	"01807"	"NPHS1_000146"	"g.36341874_36341876del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.35850972_35850974del"	""	"pathogenic"	""
"0000669473"	"3"	"10"	"19"	"36340009"	"36340009"	"subst"	"0.00790688"	"03575"	"NPHS1_000165"	"g.36340009G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 homozygous; {DB:CLININrs113825926}"	"Germline"	""	"rs113825926"	"0"	""	""	"g.35849107G>A"	""	"benign"	""
"0000673964"	"2"	"90"	"19"	"36330221"	"36330221"	"subst"	"8.12123E-6"	"03695"	"NPHS1_000207"	"g.36330221G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.35839319G>C"	""	"pathogenic"	""
"0000681387"	"0"	"30"	"19"	"36339181"	"36339181"	"subst"	"0.000138074"	"01804"	"NPHS1_000208"	"g.36339181T>C"	""	""	""	"NPHS1(NM_004646.3):c.1289A>G (p.(Lys430Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000681388"	"0"	"50"	"19"	"36359644"	"36359644"	"subst"	"0"	"01943"	"NPHS1_000209"	"g.36359644G>T"	""	""	""	"APLP1(NM_001024807.2):c.106G>T (p.A36S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000684805"	"0"	"30"	"19"	"36330456"	"36330456"	"subst"	"0.00105184"	"00004"	"NPHS1_000210"	"g.36330456C>G"	"frequency 0.015"	"{PMID:Le 2019:31180159}"	""	""	"classification based on frequency in 305 unrelated individuals"	"Germline"	""	""	"0"	""	""	"g.35839554C>G"	""	"likely benign"	""
"0000684806"	"0"	"30"	"19"	"36336398"	"36336398"	"subst"	"0.00175529"	"00004"	"NPHS1_000211"	"g.36336398C>G"	"frequency 0.027"	"{PMID:Le 2019:31180159}"	""	""	"classification based on frequency in 305 unrelated individuals"	"Germline"	""	""	"0"	""	""	"g.35845496C>G"	""	"likely benign"	""
"0000684807"	"0"	"30"	"19"	"36339044"	"36339044"	"subst"	"0.00301445"	"00004"	"NPHS1_000193"	"g.36339044C>T"	"frequency 0.034"	"{PMID:Le 2019:31180159}"	""	""	"classification based on frequency in 305 unrelated individuals"	"Germline"	""	""	"0"	""	""	"g.35848142C>T"	""	"likely benign"	""
"0000684808"	"0"	"30"	"19"	"36342568"	"36342568"	"subst"	"0.00101394"	"00004"	"NPHS1_000212"	"g.36342568G>A"	"frequency 0.015"	"{PMID:Le 2019:31180159}"	""	""	"classification based on frequency in 305 unrelated individuals"	"Germline"	""	""	"0"	""	""	"g.35851666G>A"	""	"likely benign"	""
"0000692772"	"0"	"30"	"19"	"36332686"	"36332686"	"subst"	"0.00193321"	"02326"	"NPHS1_000205"	"g.36332686C>A"	""	""	""	"NPHS1(NM_004646.3):c.2746G>T (p.(Ala916Ser), p.A916S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000698257"	"3"	"90"	"19"	"36332757"	"36332758"	"dup"	"0"	"02461"	"NPHS1_000134"	"g.36332757_36332758dup"	""	"{PMID:Abid 2018:30013592}, {DOI:Abid 2018:10.3389/fgene.2018.00214}"	""	"2673dupCA"	""	"Germline"	""	""	"0"	""	""	"g.35841855_35841856dup"	""	"pathogenic (recessive)"	""
"0000698271"	"1"	"30"	"19"	"36341311"	"36341311"	"subst"	"0.00610717"	"02461"	"NPHS1_000166"	"g.36341311T>A"	""	"{PMID:Abid 2018:30013592}, {DOI:Abid 2018:10.3389/fgene.2018.00214}"	""	""	""	"Germline"	""	"rs145125791"	"0"	""	""	"g.35850409T>A"	""	"likely benign"	""
"0000727282"	"0"	"30"	"19"	"36317463"	"36317463"	"subst"	"8.13537E-6"	"02326"	"NPHS1_000213"	"g.36317463G>C"	""	""	""	"NPHS1(NM_004646.3):c.3679C>G (p.L1227V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000727283"	"0"	"30"	"19"	"36326643"	"36326643"	"subst"	"0.000117762"	"02326"	"NPHS1_000214"	"g.36326643C>T"	""	""	""	"NPHS1(NM_004646.3):c.3130G>A (p.E1044K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000727284"	"0"	"30"	"19"	"36333268"	"36333268"	"subst"	"1.63115E-5"	"02326"	"NPHS1_000215"	"g.36333268G>T"	""	""	""	"NPHS1(NM_004646.3):c.2506+13C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000727285"	"0"	"90"	"19"	"36336332"	"36336332"	"subst"	"3.66136E-5"	"02326"	"NPHS1_000077"	"g.36336332C>A"	""	""	""	"NPHS1(NM_004646.3):c.1868G>T (p.C623F), NPHS1(NM_004646.4):c.1868G>T (p.(Cys623Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000727286"	"0"	"30"	"19"	"36336690"	"36336690"	"subst"	"0.00164071"	"02326"	"NPHS1_000216"	"g.36336690A>C"	""	""	""	"NPHS1(NM_004646.3):c.1638T>G (p.T546=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000727287"	"0"	"50"	"19"	"36340030"	"36340030"	"subst"	"8.32341E-6"	"02327"	"NPHS1_000217"	"g.36340030G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000727288"	"0"	"50"	"19"	"36341962"	"36341962"	"subst"	"7.71686E-5"	"02327"	"NPHS1_000218"	"g.36341962C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000727289"	"0"	"30"	"19"	"36342414"	"36342414"	"subst"	"0.000141364"	"02326"	"NPHS1_000219"	"g.36342414G>A"	""	""	""	"NPHS1(NM_004646.3):c.219C>T (p.P73=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000727290"	"0"	"30"	"19"	"36342593"	"36342593"	"subst"	"0.000505386"	"02326"	"NPHS1_000220"	"g.36342593G>T"	""	""	""	"NPHS1(NM_004646.3):c.59-19C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000795126"	"11"	"90"	"19"	"36335065"	"36335065"	"subst"	"0"	"04152"	"NPHS1_000221"	"g.36335065G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.35844163G>A"	""	"pathogenic"	"ACMG"
"0000855533"	"0"	"30"	"19"	"36321820"	"36321820"	"subst"	"0.000418281"	"02326"	"NPHS1_000222"	"g.36321820G>A"	""	""	""	"NPHS1(NM_004646.3):c.3520C>T (p.H1174Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000855534"	"0"	"90"	"19"	"36333383"	"36333383"	"subst"	"1.21838E-5"	"02326"	"NPHS1_000092"	"g.36333383G>A"	""	""	""	"NPHS1(NM_004646.3):c.2404C>T (p.R802W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000855535"	"0"	"50"	"19"	"36336927"	"36336927"	"subst"	"0.00108813"	"01943"	"NPHS1_000225"	"g.36336927G>A"	""	""	""	"NPHS1(NM_004646.3):c.1610C>T (p.T537M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000855536"	"0"	"10"	"19"	"36338924"	"36338924"	"subst"	"0.00109939"	"02326"	"NPHS1_000226"	"g.36338924G>A"	""	""	""	"NPHS1(NM_004646.3):c.1440+19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000855537"	"0"	"50"	"19"	"36340506"	"36340506"	"subst"	"0.00109262"	"02326"	"NPHS1_000005"	"g.36340506A>C"	""	""	""	"NPHS1(NM_004646.3):c.658T>G (p.S220A), NPHS1(NM_004646.4):c.658T>G (p.(Ser220Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000855538"	"0"	"90"	"19"	"36341874"	"36341876"	"del"	"0"	"02326"	"NPHS1_000027"	"g.36341874_36341876del"	""	""	""	"NPHS1(NM_004646.3):c.515_517delCCA (p.T172del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000855539"	"0"	"30"	"19"	"36342450"	"36342450"	"subst"	"4.13486E-6"	"02326"	"NPHS1_000228"	"g.36342450C>T"	""	""	""	"NPHS1(NM_004646.3):c.183G>A (p.A61=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866034"	"0"	"30"	"19"	"36330456"	"36330456"	"subst"	"0.00105184"	"02326"	"NPHS1_000210"	"g.36330456C>G"	""	""	""	"NPHS1(NM_004646.3):c.2869G>C (p.V957L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866035"	"0"	"30"	"19"	"36333109"	"36333109"	"subst"	"1.2369E-5"	"02326"	"NPHS1_000223"	"g.36333109G>A"	""	""	""	"NPHS1(NM_004646.3):c.2580C>T (p.T860=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866036"	"0"	"30"	"19"	"36335268"	"36335268"	"subst"	"0"	"01804"	"NPHS1_000224"	"g.36335268G>A"	""	""	""	"NPHS1(NM_004646.3):c.2024C>T (p.(Ala675Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866037"	"0"	"30"	"19"	"36336398"	"36336398"	"subst"	"0.00175529"	"02326"	"NPHS1_000211"	"g.36336398C>G"	""	""	""	"NPHS1(NM_004646.3):c.1802G>C (p.G601A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866038"	"0"	"30"	"19"	"36339044"	"36339044"	"subst"	"0.00301445"	"02326"	"NPHS1_000193"	"g.36339044C>T"	""	""	""	"NPHS1(NM_004646.3):c.1339G>A (p.E447K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866039"	"0"	"10"	"19"	"36340175"	"36340175"	"subst"	"0.00132425"	"02326"	"NPHS1_000202"	"g.36340175C>T"	""	""	""	"NPHS1(NM_004646.3):c.803G>A (p.(Arg268Gln), p.R268Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000866040"	"0"	"30"	"19"	"36340230"	"36340230"	"subst"	"0"	"02326"	"NPHS1_000227"	"g.36340230G>A"	""	""	""	"NPHS1(NM_004646.3):c.748C>T (p.L250=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000866041"	"0"	"30"	"19"	"36342482"	"36342482"	"subst"	"0.00125698"	"02326"	"NPHS1_000229"	"g.36342482G>A"	""	""	""	"NPHS1(NM_004646.3):c.151C>T (p.L51=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000873908"	"0"	"10"	"19"	"36342212"	"36342212"	"subst"	"0.323645"	"00000"	"NPHS1_000001"	"g.36342212C>T"	""	"{PMID:Bell 2011:21228398}"	""	"NPHS1 19:41034052 (hg18) het HM080063 36.5%"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.35851310C>T"	""	"benign"	""
"0000873916"	"0"	"10"	"11"	"36342212"	"36342212"	"subst"	"0"	"00000"	"NPHS1_000001"	"g.36342212C>T"	""	"{PMID:Bell 2011:21228398}"	""	"NPHS1 11:6372039 (hg18) het HM080063 36.5%"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.35851310C>T"	""	"benign"	""
"0000881376"	"0"	"90"	"19"	"36341315"	"36341315"	"subst"	"0.000125878"	"02300"	"NPHS1_000230"	"g.36341315C>T"	""	"{PMID:Marinakis 2021:34008892}"	""	""	"ACMG PM1, PM2, PP2, PP3, PP5"	"Germline/De novo (untested)"	""	"rs199646884"	"0"	""	""	"g.35850413C>T"	""	"pathogenic"	"ACMG"
"0000894936"	"0"	"30"	"19"	"36317544"	"36317544"	"subst"	"0.00091356"	"02326"	"NPHS1_000231"	"g.36317544G>A"	""	""	""	"NPHS1(NM_004646.3):c.3598C>T (p.P1200S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894937"	"0"	"90"	"19"	"36333084"	"36333085"	"dup"	"0"	"02326"	"NPHS1_000103"	"g.36333084_36333085dup"	""	""	""	"NPHS1(NM_004646.3):c.2606_2607dupCC (p.N870Pfs*36), NPHS1(NM_004646.4):c.2606_2607dup (p.(Asn870Profs*36))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000894938"	"0"	"30"	"19"	"36335151"	"36335151"	"subst"	"0.000412811"	"02326"	"NPHS1_000232"	"g.36335151G>A"	""	""	""	"NPHS1(NM_004646.3):c.2072-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894939"	"0"	"30"	"19"	"36336258"	"36336258"	"subst"	"0.00255336"	"02326"	"NPHS1_000233"	"g.36336258C>T"	""	""	""	"NPHS1(NM_004646.3):c.1930+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894940"	"0"	"30"	"19"	"36336274"	"36336274"	"subst"	"0.00107697"	"02326"	"NPHS1_000180"	"g.36336274T>C"	""	""	""	"NPHS1(NM_004646.3):c.1926A>G (p.V642=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894941"	"0"	"30"	"19"	"36336292"	"36336292"	"subst"	"0.00099978"	"02326"	"NPHS1_000234"	"g.36336292G>A"	""	""	""	"NPHS1(NM_004646.3):c.1908C>T (p.S636=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894942"	"0"	"30"	"19"	"36336450"	"36336450"	"subst"	"0.000955917"	"02326"	"NPHS1_000235"	"g.36336450A>C"	""	""	""	"NPHS1(NM_004646.3):c.1758-8T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894943"	"0"	"30"	"19"	"36339599"	"36339599"	"subst"	"0.00107239"	"02326"	"NPHS1_000186"	"g.36339599A>G"	""	""	""	"NPHS1(NM_004646.3):c.1110T>C (p.V370=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894944"	"0"	"30"	"19"	"36340132"	"36340132"	"subst"	"0.00104122"	"02326"	"NPHS1_000187"	"g.36340132C>T"	""	""	""	"NPHS1(NM_004646.3):c.840+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000894945"	"0"	"30"	"19"	"36341346"	"36341346"	"subst"	"0.000426396"	"02326"	"NPHS1_000236"	"g.36341346A>G"	""	""	""	"NPHS1(NM_004646.3):c.528T>C (p.S176=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915203"	"0"	"30"	"19"	"36321865"	"36321865"	"subst"	"0.00102742"	"02326"	"NPHS1_000237"	"g.36321865T>A"	""	""	""	"NPHS1(NM_004646.3):c.3482-7A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915204"	"0"	"90"	"19"	"36336572"	"36336572"	"subst"	"0"	"02326"	"NPHS1_000181"	"g.36336572T>C"	""	""	""	"NPHS1(NM_004646.3):c.1756A>G (p.R586G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000915205"	"0"	"30"	"19"	"36336917"	"36336917"	"subst"	"0.000309928"	"02326"	"NPHS1_000238"	"g.36336917C>G"	""	""	""	"NPHS1(NM_004646.3):c.1620G>C (p.A540=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000915206"	"0"	"50"	"19"	"36339952"	"36339952"	"subst"	"2.48209E-5"	"02326"	"NPHS1_000239"	"g.36339952G>A"	""	""	""	"NPHS1(NM_004646.3):c.938C>T (p.A313V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000915207"	"0"	"30"	"19"	"36342568"	"36342568"	"subst"	"0.00101394"	"02326"	"NPHS1_000212"	"g.36342568G>A"	""	""	""	"NPHS1(NM_004646.3):c.65C>T (p.A22V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000926877"	"0"	"70"	"19"	"36317523"	"36317523"	"del"	"4.09437E-6"	"02326"	"NPHS1_000240"	"g.36317523del"	""	""	""	"NPHS1(NM_004646.3):c.3619delG (p.E1207Kfs*30)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000926878"	"0"	"30"	"19"	"36340026"	"36340026"	"subst"	"0.000149831"	"02326"	"NPHS1_000241"	"g.36340026C>T"	""	""	""	"NPHS1(NM_004646.3):c.864G>A (p.A288=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000931047"	"0"	"30"	"19"	"36321778"	"36321778"	"subst"	"0.000385793"	"02326"	"NPHS1_000242"	"g.36321778C>T"	""	""	""	"NPHS1(NM_004646.3):c.3562G>A (p.A1188T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951277"	"0"	"30"	"19"	"36322264"	"36322264"	"subst"	"0.000251771"	"02326"	"NPHS1_000243"	"g.36322264C>T"	""	""	""	"NPHS1(NM_004646.3):c.3321G>A (p.E1107=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951278"	"0"	"30"	"19"	"36333195"	"36333195"	"subst"	"0.000491727"	"02326"	"NPHS1_000244"	"g.36333195G>A"	""	""	""	"NPHS1(NM_004646.3):c.2507-13C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951279"	"0"	"30"	"19"	"36341311"	"36341311"	"subst"	"0.00610717"	"01804"	"NPHS1_000166"	"g.36341311T>A"	""	""	""	"NPHS1(NM_004646.3):c.563A>T (p.(Asn188Ile), p.N188I), NPHS1(NM_004646.4):c.563A>T (p.N188I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969702"	"0"	"50"	"19"	"36330456"	"36330456"	"subst"	"7.71617E-5"	"02327"	"NPHS1_000245"	"g.36330456C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000969704"	"0"	"30"	"19"	"36339285"	"36339285"	"subst"	"5.68671E-5"	"02326"	"NPHS1_000201"	"g.36339285A>G"	""	""	""	"NPHS1(NM_004646.3):c.1185T>C (p.G395=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969706"	"0"	"30"	"19"	"36341311"	"36341311"	"subst"	"0.00610717"	"02325"	"NPHS1_000166"	"g.36341311T>A"	""	""	""	"NPHS1(NM_004646.3):c.563A>T (p.(Asn188Ile), p.N188I), NPHS1(NM_004646.4):c.563A>T (p.N188I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000969707"	"0"	"30"	"19"	"36342505"	"36342505"	"subst"	"0.000493023"	"02326"	"NPHS1_000246"	"g.36342505A>G"	""	""	""	"NPHS1(NM_004646.3):c.128T>C (p.V43A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000972098"	"21"	"90"	"19"	"36332674"	"36332674"	"subst"	"0"	"03676"	"NPHS1_000247"	"g.36332674A>G"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.35841772A>G"	""	"likely pathogenic (recessive)"	"ACMG"
"0000983395"	"0"	"50"	"19"	"36322018"	"36322018"	"subst"	"0.00010159"	"01804"	"NPHS1_000115"	"g.36322018G>A"	""	""	""	"NPHS1(NM_004646.3):c.3418C>T (p.(Arg1140Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000983396"	"0"	"50"	"19"	"36333098"	"36333098"	"subst"	"0.000124398"	"01804"	"NPHS1_000248"	"g.36333098C>T"	""	""	""	"NPHS1(NM_004646.4):c.2591G>A (p.(Arg864His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000983397"	"0"	"10"	"19"	"36334485"	"36334485"	"subst"	"0.00657045"	"01804"	"NPHS1_000178"	"g.36334485G>A"	""	""	""	"NPHS1(NM_004646.4):c.2223C>T (p.(Thr741=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000983398"	"0"	"50"	"19"	"36339016"	"36339016"	"subst"	"0.000138499"	"01804"	"NPHS1_000249"	"g.36339016C>T"	""	""	""	"NPHS1(NM_004646.4):c.1367G>A (p.(Arg456Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000983399"	"0"	"30"	"19"	"36340467"	"36340467"	"subst"	"0.000804178"	"01804"	"NPHS1_000250"	"g.36340467T>C"	""	""	""	"NPHS1(NM_004646.4):c.697A>G (p.(Thr233Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000983400"	"0"	"50"	"19"	"36340506"	"36340506"	"subst"	"0.00109262"	"01804"	"NPHS1_000005"	"g.36340506A>C"	""	""	""	"NPHS1(NM_004646.3):c.658T>G (p.S220A), NPHS1(NM_004646.4):c.658T>G (p.(Ser220Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000983401"	"0"	"30"	"19"	"36342518"	"36342518"	"subst"	"0.000111808"	"02326"	"NPHS1_000251"	"g.36342518C>T"	""	""	""	"NPHS1(NM_004646.3):c.115G>A (p.E39K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001004666"	"0"	"30"	"19"	"36332686"	"36332686"	"subst"	"0.00193321"	"01804"	"NPHS1_000205"	"g.36332686C>A"	""	""	""	"NPHS1(NM_004646.3):c.2746G>T (p.(Ala916Ser), p.A916S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001004668"	"0"	"30"	"19"	"36351539"	"36351539"	"subst"	"2.09163E-5"	"01804"	"NPHS1_000252"	"g.36351539G>A"	""	""	""	"KIRREL2(NM_199180.2):c.898G>A (p.(Ala300Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001017447"	"11"	"70"	"19"	"36342161"	"36342161"	"subst"	"0"	"03544"	"NPHS1_000253"	"g.36342161T>C"	""	""	""	""	"detected in trans with pathogenic variant NM_004646.3:\r\nc.1103C>T, p.(Pro368Leu)"	"Germline"	"yes"	""	"0"	""	""	"g.35851259T>C"	"{CV:3378405}"	"likely pathogenic"	"ACMG"
"0001017479"	"2"	"70"	"19"	"36339606"	"36339606"	"subst"	"0"	"03544"	"NPHS1_000050"	"g.36339606G>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.35848704G>A"	""	"likely pathogenic (recessive)"	""
"0001042877"	"0"	"70"	"19"	"36321791"	"36321791"	"subst"	"0"	"01804"	"NPHS1_000173"	"g.36321791G>T"	""	""	""	"NPHS1(NM_004646.4):c.3549C>A (p.(Tyr1183*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001042878"	"0"	"50"	"19"	"36330507"	"36330507"	"subst"	"4.06388E-6"	"01804"	"NPHS1_000254"	"g.36330507G>A"	""	""	""	"NPHS1(NM_004646.4):c.2818C>T (p.(Arg940Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001042880"	"0"	"90"	"19"	"36333084"	"36333085"	"dup"	"0"	"01804"	"NPHS1_000103"	"g.36333084_36333085dup"	""	""	""	"NPHS1(NM_004646.3):c.2606_2607dupCC (p.N870Pfs*36), NPHS1(NM_004646.4):c.2606_2607dup (p.(Asn870Profs*36))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001042882"	"0"	"90"	"19"	"36336332"	"36336332"	"subst"	"3.66136E-5"	"01804"	"NPHS1_000077"	"g.36336332C>A"	""	""	""	"NPHS1(NM_004646.3):c.1868G>T (p.C623F), NPHS1(NM_004646.4):c.1868G>T (p.(Cys623Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001042883"	"0"	"30"	"19"	"36339063"	"36339063"	"subst"	"0.0453341"	"01804"	"NPHS1_000183"	"g.36339063G>A"	""	""	""	"NPHS1(NM_004646.4):c.1320C>T (p.(Pro440=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042884"	"0"	"30"	"19"	"36340009"	"36340009"	"subst"	"0.00790688"	"02325"	"NPHS1_000165"	"g.36340009G>A"	""	""	""	"NPHS1(NM_004646.3):c.881C>T (p.T294I), NPHS1(NM_004646.4):c.881C>T (p.T294I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001046730"	"0"	"70"	"19"	"36333383"	"36333383"	"subst"	"1.21838E-5"	"02327"	"NPHS1_000092"	"g.36333383G>A"	""	""	""	"NPHS1(NM_004646.3):c.2404C>T (p.R802W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001046731"	"0"	"10"	"19"	"36333389"	"36333389"	"subst"	"0.00230682"	"02326"	"NPHS1_000198"	"g.36333389G>A"	""	""	""	"NPHS1(NM_004646.3):c.2398C>T (p.(Arg800Cys), p.R800C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001046732"	"0"	"30"	"19"	"36342507"	"36342507"	"subst"	"0.00013257"	"02326"	"NPHS1_000255"	"g.36342507C>A"	""	""	""	"NPHS1(NM_004646.3):c.126G>T (p.T42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## 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 NPHS1
## Count = 414
"{{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}}"
"0000000764"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000765"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000766"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000767"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000769"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000770"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000771"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000772"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000773"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000774"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000775"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000776"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000777"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000778"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000779"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000780"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000781"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000782"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000783"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000784"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000785"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000786"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000787"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000788"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000789"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000790"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000791"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000792"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000793"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000794"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000795"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000796"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000797"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000798"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000799"	"00000050"	"50"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000000800"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000801"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000802"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000803"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000804"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000805"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000806"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000807"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000808"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000809"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000810"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000811"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000812"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000813"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000814"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000815"	"00000050"	"50"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000000816"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000817"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000818"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000819"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000820"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000821"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000822"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000823"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000824"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000825"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000826"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000827"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000828"	"00000050"	"50"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000000829"	"00000050"	"50"	"2971"	"0"	"2971"	"0"	"c.2971G>C"	"r.(?)"	"p.(Val991Leu)"	""
"0000000831"	"00000050"	"50"	"2971"	"0"	"2971"	"0"	"c.2971G>C"	"r.(?)"	"p.(Val991Leu)"	""
"0000000832"	"00000050"	"50"	"2971"	"0"	"2971"	"0"	"c.2971G>C"	"r.(?)"	"p.(Val991Leu)"	""
"0000000833"	"00000050"	"50"	"2971"	"0"	"2971"	"0"	"c.2971G>C"	"r.(?)"	"p.(Val991Leu)"	""
"0000000834"	"00000050"	"50"	"2971"	"0"	"2971"	"0"	"c.2971G>C"	"r.(?)"	"p.(Val991Leu)"	""
"0000000835"	"00000050"	"50"	"2971"	"0"	"2971"	"0"	"c.2971G>C"	"r.(?)"	"p.(Val991Leu)"	""
"0000000836"	"00000050"	"50"	"658"	"0"	"658"	"0"	"c.658T>G"	"r.(?)"	"p.(Ser220Ala)"	""
"0000000837"	"00000050"	"50"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Pro264Arg)"	""
"0000000838"	"00000050"	"50"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Pro264Arg)"	""
"0000016823"	"00000050"	"77"	"-340"	"0"	"-340"	"0"	"c.-340G>C"	"r.?"	"p.?"	"00"
"0000016824"	"00000050"	"55"	"-469"	"0"	"-468"	"0"	"c.-469_-468delGA"	"r.?"	"p.?"	"00"
"0000016825"	"00000050"	"55"	"-475"	"0"	"-468"	"0"	"c.-475_-468delGAGAGAGA"	"r.?"	"p.?"	"00"
"0000016826"	"00000050"	"77"	"58"	"1"	"58"	"1"	"c.58+1G>T"	"r.spl?"	"p.?"	"i01"
"0000016827"	"00000050"	"99"	"121"	"0"	"122"	"0"	"c.121_122del"	"r.(?)"	"p.(Leu41Aspfs*50)"	"02"
"0000016828"	"00000050"	"99"	"139"	"0"	"139"	"0"	"c.139del"	"r.(?)"	"p.(Ala47Profs*81)"	"02"
"0000016829"	"00000050"	"77"	"191"	"0"	"191"	"0"	"c.191G>C"	"r.(191g>c)"	"p.(Trp64Ser)"	"02"
"0000016830"	"00000050"	"99"	"248"	"0"	"248"	"0"	"c.248dup"	"r.(?)"	"p.(Tyr83*)"	"02"
"0000016831"	"00000050"	"77"	"286"	"0"	"286"	"0"	"c.286C>G"	"r.(286c>g)"	"p.(Leu96Val)"	"03"
"0000016832"	"00000050"	"77"	"313"	"0"	"313"	"0"	"c.313G>A"	"r.(313g>a)"	"p.(Asp105Asn)"	"03"
"0000016833"	"00000050"	"77"	"319"	"0"	"319"	"0"	"c.319G>A"	"r.(319g>a)"	"p.(Ala107Thr)"	"03"
"0000016834"	"00000050"	"55"	"320"	"0"	"320"	"0"	"c.320C>T"	"r.(320c>u)"	"p.(Ala107Val)"	"03"
"0000016835"	"00000050"	"77"	"398"	"-1"	"398"	"-1"	"c.398-1G>A"	"r.spl?"	"p.?"	"i03"
"0000016836"	"00000050"	"99"	"468"	"0"	"468"	"0"	"c.468C>G"	"r.(468c>g)"	"p.(Tyr156*)"	"04"
"0000016837"	"00000050"	"77"	"479"	"0"	"479"	"0"	"c.479G>C"	"r.(479g>c)"	"p.(Cys160Ser)"	"04"
"0000016838"	"00000050"	"77"	"500"	"0"	"500"	"0"	"c.500C>T"	"r.(500c>u)"	"p.(Pro167Leu)"	"04"
"0000016839"	"00000050"	"77"	"512"	"0"	"512"	"0"	"c.512T>A"	"r.(512u>a)"	"p.(Ile171Asn)"	"04"
"0000016840"	"00000050"	"77"	"515"	"0"	"517"	"0"	"c.515_517del"	"r.(?)"	"p.(Thr172del)"	"04"
"0000016841"	"00000050"	"99"	"516"	"0"	"516"	"0"	"c.516del"	"r.(?)"	"p.(Ile173Phefs*3)"	"04"
"0000016842"	"00000050"	"77"	"518"	"0"	"518"	"0"	"c.518T>A"	"r.(518u>a)"	"p.(Ile173Asn)"	"04"
"0000016843"	"00000050"	"77"	"526"	"5"	"526"	"5"	"c.526+5G>C"	"r.spl?"	"p.?"	"i04"
"0000016844"	"00000050"	"99"	"532"	"0"	"532"	"0"	"c.532C>T"	"r.(532c>u)"	"p.(Gln178*)"	"05"
"0000016845"	"00000050"	"99"	"534"	"0"	"534"	"0"	"c.534del"	"r.(?)"	"p.(Thr179Glnfs*9)"	"05"
"0000016846"	"00000050"	"99"	"574"	"0"	"574"	"0"	"c.574C>T"	"r.(574c>u)"	"p.(Gln192*)"	"05"
"0000016847"	"00000050"	"77"	"609"	"-2"	"609"	"-2"	"c.609-2A>C"	"r.spl?"	"p.?"	"i05"
"0000016848"	"00000050"	"99"	"614"	"0"	"621"	"0"	"c.614_621delinsTT"	"r.(?)"	"p.(Thr205_Arg207delinsIle)"	"06"
"0000016849"	"00000050"	"99"	"661"	"0"	"662"	"0"	"c.661_662del"	"r.(?)"	"p.(Ser221Profs*31)"	"06"
"0000016850"	"00000050"	"99"	"692"	"0"	"692"	"0"	"c.692C>A"	"r.(692c>a)"	"p.(Ser231*)"	"06"
"0000016851"	"00000050"	"99"	"736"	"0"	"736"	"0"	"c.736G>T"	"r.(736g>u)"	"p.(Glu246*)"	"07"
"0000016852"	"00000050"	"77"	"766"	"0"	"766"	"0"	"c.766C>T"	"r.(766c>u)"	"p.(Arg256Trp)"	"07"
"0000016853"	"00000050"	"77"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(791c>g)"	"p.(Pro264Arg)"	"07"
"0000016854"	"00000050"	"77"	"808"	"0"	"808"	"0"	"c.808G>T"	"r.(808g>u)"	"p.(Gly270Cys)"	"07"
"0000016855"	"00000050"	"77"	"886"	"0"	"886"	"0"	"c.886G>A"	"r.(?)"	"p.(Ala296Thr)"	"8"
"0000016856"	"00000050"	"77"	"1019"	"0"	"1019"	"0"	"c.1019C>A"	"r.(1019c>a)"	"p.(Pro340His)"	"09"
"0000016857"	"00000050"	"77"	"1040"	"0"	"1040"	"0"	"c.1040G>A"	"r.(1040g>a)"	"p.(Gly347Glu)"	"09"
"0000016858"	"00000050"	"77"	"1048"	"0"	"1048"	"0"	"c.1048T>C"	"r.(1048u>c)"	"p.(Ser350Pro)"	"09"
"0000016859"	"00000050"	"77"	"1096"	"0"	"1096"	"0"	"c.1096A>C"	"r.(1096a>c)"	"p.(Ser366Arg)"	"09"
"0000016860"	"00000050"	"77"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(1099c>u)"	"p.(Arg367Cys)"	"09"
"0000016861"	"00000050"	"77"	"1100"	"0"	"1100"	"0"	"c.1100G>A"	"r.(1100g>a)"	"p.(Arg367His)"	"09"
"0000016862"	"00000050"	"77"	"1102"	"0"	"1102"	"0"	"c.1102C>T"	"r.(1102c>u)"	"p.(Pro368Ser)"	"09"
"0000016863"	"00000050"	"77"	"1103"	"0"	"1103"	"0"	"c.1103C>T"	"r.(1103c>u)"	"p.(Pro368Leu)"	"09"
"0000016864"	"00000050"	"77"	"1126"	"0"	"1126"	"0"	"c.1126C>G"	"r.(1126c>g)"	"p.(Leu376Val)"	"09"
"0000016865"	"00000050"	"99"	"1134"	"0"	"1134"	"0"	"c.1134G>A"	"r.(1134g>a)"	"p.(Trp378*)"	"09"
"0000016866"	"00000050"	"99"	"1135"	"0"	"1136"	"0"	"c.1135_1136del"	"r.(?)"	"p.(Arg379Alafs*39)"	"09"
"0000016867"	"00000050"	"77"	"1135"	"0"	"1135"	"0"	"c.1135C>T"	"r.(1135c>u)"	"p.(Arg379Trp)"	"09"
"0000016868"	"00000050"	"99"	"1138"	"0"	"1138"	"0"	"c.1138C>T"	"r.(1138c>t)"	"p.(Gln380*)"	"09"
"0000016869"	"00000050"	"77"	"1219"	"0"	"1219"	"0"	"c.1219C>T"	"r.(1219c>u)"	"p.(Arg407Trp)"	"10"
"0000016870"	"00000050"	"77"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(1223g>a)"	"p.(Arg408Gln)"	"10"
"0000016871"	"00000050"	"77"	"1234"	"0"	"1234"	"0"	"c.1234G>T"	"r.(1234g>u)"	"p.(Gly412Cys)"	"10"
"0000016872"	"00000050"	"77"	"1250"	"0"	"1250"	"0"	"c.1250G>T"	"r.(1250g>u)"	"p.(Cys417Phe)"	"10"
"0000016873"	"00000050"	"99"	"1275"	"0"	"1275"	"0"	"c.1275del"	"r.(?)"	"p.(Lys426Argfs*10)"	"10"
"0000016874"	"00000050"	"99"	"1292"	"0"	"1292"	"0"	"c.1292dup"	"r.(?)"	"p.(Ser432Valfs*16)"	"10"
"0000016875"	"00000050"	"99"	"1307"	"0"	"1308"	"0"	"c.1307_1308dup"	"r.(?)"	"p.(Val437Thrfs*2)"	"10"
"0000016876"	"00000050"	"77"	"1337"	"0"	"1337"	"0"	"c.1337T>A"	"r.(1337u>a)"	"p.(Ile446Asn)"	"11"
"0000016877"	"00000050"	"77"	"1379"	"0"	"1379"	"0"	"c.1379G>A"	"r.(1379g>a)"	"p.(Arg460Gln)"	"11"
"0000016878"	"00000050"	"77"	"1394"	"0"	"1394"	"0"	"c.1394G>A"	"r.(1394g>a)"	"p.(Cys465Tyr)"	"11"
"0000016879"	"00000050"	"99"	"1481"	"0"	"1481"	"0"	"c.1481del"	"r.(?)"	"p.(Ser494Cysfs*55)"	"12"
"0000016880"	"00000050"	"77"	"1555"	"0"	"1555"	"0"	"c.1555C>T"	"r.(1555c>u)"	"p.(Pro519Ser)"	"12"
"0000016881"	"00000050"	"77"	"1583"	"0"	"1583"	"0"	"c.1583G>T"	"r.(1583g>u)"	"p.(Cys528Phe)"	"12"
"0000016882"	"00000050"	"77"	"1672"	"0"	"1672"	"0"	"c.1672C>T"	"r.(1672c>u)"	"p.(Arg558Cys)"	"13"
"0000016883"	"00000050"	"99"	"1701"	"0"	"1701"	"0"	"c.1701C>A"	"r.(1701c>a)"	"p.(Cys567*)"	"13"
"0000016884"	"00000050"	"77"	"1707"	"0"	"1707"	"0"	"c.1707C>G"	"r.(1707c>g)"	"p.(Ser569Arg)"	"13"
"0000016885"	"00000050"	"77"	"1715"	"0"	"1715"	"0"	"c.1715G>A"	"r.(1715g>a)"	"p.(Ser572Asn)"	"13"
"0000016886"	"00000050"	"77"	"1724"	"0"	"1724"	"0"	"c.1724C>A"	"r.(1724c>a)"	"p.(Pro575Gln)"	"13"
"0000016887"	"00000050"	"77"	"1760"	"0"	"1760"	"0"	"c.1760T>G"	"r.(1760u>g)"	"p.(Leu587Arg)"	"14"
"0000016888"	"00000050"	"77"	"1801"	"0"	"1801"	"0"	"c.1801G>C"	"r.(1801g>c)"	"p.(Gly601Arg)"	"14"
"0000016889"	"00000050"	"77"	"1829"	"0"	"1829"	"0"	"c.1829T>A"	"r.(1829u>a)"	"p.(Leu610Gln)"	"14"
"0000016890"	"00000050"	"77"	"1868"	"0"	"1868"	"0"	"c.1868G>T"	"r.(1868g>u)"	"p.(Cys623Phe)"	"14"
"0000016891"	"00000050"	"77"	"1905"	"0"	"1905"	"0"	"c.1905C>T"	"r.spl?"	"p.(Ser635=)"	"14"
"0000016892"	"00000050"	"77"	"1928"	"0"	"1928"	"0"	"c.1928T>C"	"r.(1928u>c)"	"p.(Leu643Pro)"	"14"
"0000016893"	"00000050"	"77"	"2019"	"0"	"2019"	"0"	"c.2019C>A"	"r.(2019c>a)"	"p.(Asn673Lys)"	"14"
"0000016894"	"00000050"	"99"	"1954"	"0"	"1954"	"0"	"c.1954C>T"	"r.(1954c>u)"	"p.(Gln652*)"	"15"
"0000016895"	"00000050"	"77"	"2043"	"0"	"2043"	"0"	"c.2043G>T"	"r.(2043g>u)"	"p.(Trp681Cys)"	"15"
"0000016896"	"00000050"	"77"	"2126"	"0"	"2126"	"0"	"c.2126T>G"	"r.(2126u>g)"	"p.(Val709Gly)"	"16"
"0000016897"	"00000050"	"99"	"2156"	"0"	"2163"	"0"	"c.2156_2163del"	"r.(?)"	"p.(Leu719Profs*4)"	"16"
"0000016898"	"00000050"	"99"	"2160"	"0"	"2160"	"0"	"c.2160dup"	"r.(?)"	"p.(Cys721Leufs*5)"	"16"
"0000016899"	"00000050"	"77"	"2171"	"0"	"2171"	"0"	"c.2171C>G"	"r.(2171c>g)"	"p.(Ser724Cys)"	"16"
"0000016900"	"00000050"	"99"	"2172"	"0"	"2173"	"0"	"c.2172_2173del"	"r.(?)"	"p.(Glu725Glyfs*25)"	"16"
"0000016901"	"00000050"	"77"	"2216"	"0"	"2216"	"0"	"c.2216C>T"	"r.(2216c>u)"	"p.(Ala739Val)"	"17"
"0000016902"	"00000050"	"77"	"2225"	"0"	"2225"	"0"	"c.2225T>C"	"r.(?)"	"p.(Ile742Thr)"	"17"
"0000016903"	"00000050"	"77"	"2227"	"0"	"2227"	"0"	"c.2227C>T"	"r.(2227c>u)"	"p.(Arg743Cys)"	"17"
"0000016904"	"00000050"	"99"	"2227"	"0"	"2227"	"0"	"c.2227del"	"r.(2227del)"	"p.(Arg743Valfs*9)"	"17"
"0000016905"	"00000050"	"77"	"2404"	"0"	"2404"	"0"	"c.2404C>T"	"r.(2404c>u)"	"p.(Arg802Trp)"	"18"
"0000016906"	"00000050"	"77"	"2405"	"0"	"2405"	"0"	"c.2405G>C"	"r.(2405g>c)"	"p.(Arg802Pro)"	"18"
"0000016907"	"00000050"	"77"	"2417"	"0"	"2417"	"0"	"c.2417C>A"	"r.(2417c>a)"	"p.(Ala806Asp)"	"18"
"0000016908"	"00000050"	"99"	"2442"	"0"	"2442"	"0"	"c.2442C>G"	"r.(2442c>g)"	"p.(Tyr814*)"	"18"
"0000016909"	"00000050"	"99"	"2479"	"0"	"2479"	"0"	"c.2479C>T"	"r.(2479c>u)"	"p.(Arg827*)"	"18"
"0000016910"	"00000050"	"77"	"2491"	"0"	"2491"	"0"	"c.2491C>T"	"r.(2491c>u)"	"p.(Arg831Cys)"	"18"
"0000016911"	"00000050"	"77"	"2495"	"0"	"2495"	"0"	"c.2495T>C"	"r.(2495u>c)"	"p.(Leu832Pro)"	"18"
"0000016912"	"00000050"	"77"	"2500"	"0"	"2500"	"0"	"c.2500G>T"	"r.(2500g>u)"	"p.(Val834Phe)"	"18"
"0000016913"	"00000050"	"99"	"2515"	"0"	"2515"	"0"	"c.2515del"	"r.(?)"	"p.(Gln839Argfs*8)"	"19"
"0000016914"	"00000050"	"99"	"2549"	"0"	"2558"	"0"	"c.2549_2558del"	"r.(2548_2557del)"	"p.(Ala850Glufs*52)"	"19"
"0000016915"	"00000050"	"99"	"2596"	"0"	"2596"	"0"	"c.2596C>T"	"r.(2596c>u)"	"p.(Arg866*)"	"19"
"0000016916"	"00000050"	"99"	"2606"	"0"	"2607"	"0"	"c.2606_2607dup"	"r.(?)"	"p.(Asn870Profs*36)"	"19"
"0000016917"	"00000050"	"99"	"2618"	"0"	"2620"	"0"	"c.2618_2620delinsCC"	"r.(?)"	"p.(Phe873Serfs*32)"	"19"
"0000016918"	"00000050"	"99"	"2625"	"0"	"2625"	"0"	"c.2625G>A"	"r.(2625g>a)"	"p.(Trp875*)"	"19"
"0000016919"	"00000050"	"77"	"2728"	"0"	"2728"	"0"	"c.2728T>C"	"r.(2728u>c)"	"p.(Ser910Pro)"	"20"
"0000016920"	"00000050"	"99"	"2770"	"0"	"2776"	"0"	"c.2770_2776del"	"r.(2769_2775del)"	"p.(Asn924Leufs*22)"	"20"
"0000016921"	"00000050"	"99"	"2783"	"0"	"2783"	"0"	"c.2783C>A"	"r.(2783c>a)"	"p.(Ser928*)"	"20"
"0000016922"	"00000050"	"77"	"2928"	"0"	"2928"	"0"	"c.2928G>T"	"r.[2928g>u, spl?]"	"p.[Arg976Ser, p.?]"	"22"
"0000016923"	"00000050"	"99"	"2944"	"0"	"2944"	"0"	"c.2944dup"	"r.(?)"	"p.(Thr982Asnfs*36)"	"22"
"0000016924"	"00000050"	"99"	"3250"	"0"	"3250"	"0"	"c.3250del"	"r.(?)"	"p.(Val1084Serfs*59)"	"24"
"0000016925"	"00000050"	"99"	"3250"	"0"	"3250"	"0"	"c.3250dup"	"r.(?)"	"p.(Val1084Glyfs*12)"	"24"
"0000016926"	"00000050"	"99"	"3325"	"0"	"3325"	"0"	"c.3325C>T"	"r.(3325c>u)"	"p.(Arg1109*)"	"26"
"0000016927"	"00000050"	"99"	"3356"	"0"	"3357"	"0"	"c.3356_3357dup"	"r.(?)"	"p.(Thr1120Glyfs*24)"	"26"
"0000016928"	"00000050"	"77"	"3418"	"0"	"3418"	"0"	"c.3418C>T"	"r.(3418c>u)"	"p.(Arg1140Cys)"	"27"
"0000016929"	"00000050"	"99"	"3442"	"0"	"3442"	"0"	"c.3442C>T"	"r.(3442c>u)"	"p.(Gln1148*)"	"27"
"0000016930"	"00000050"	"99"	"3478"	"0"	"3478"	"0"	"c.3478C>T"	"r.(3478c>u)"	"p.(Arg1160*)"	"27"
"0000016931"	"00000050"	"77"	"3482"	"0"	"3482"	"0"	"c.3482G>T"	"r.spl?"	"p.(Gly1161Val)"	"28"
"0000016932"	"00000050"	"99"	"3720"	"0"	"3735"	"0"	"c.3720_*9del"	"r.(3720_*9del)"	"p.(Val1241delins45)"	"29"
"0000016933"	"00000050"	"99"	"2456"	"0"	"2456"	"0"	"c.2456A>T"	"r.(?)"	"p.(Asp819Val)"	"11"
"0000016934"	"00000050"	"77"	"1758"	"-8"	"1785"	"0"	"c.1758-8_1785del"	"r.spl?"	"p.?"	"i14-15"
"0000016935"	"00000050"	"77"	"2071"	"2"	"2071"	"2"	"c.2071+2T>C"	"r.spl?"	"p.?"	"i15"
"0000016936"	"00000050"	"77"	"2072"	"-6"	"2072"	"-6"	"c.2072-6C>G"	"r.spl?"	"p.(=)"	"i15"
"0000016937"	"00000050"	"77"	"2335"	"-1"	"2335"	"-1"	"c.2335-1G>A"	"r.spl?"	"p.?"	"i17"
"0000016938"	"00000050"	"77"	"2664"	"-4"	"2670"	"0"	"c.2664-4_2670del"	"r.spl?"	"p.?"	"i19"
"0000016939"	"00000050"	"77"	"2815"	"5"	"2815"	"5"	"c.2815+5G>A"	"r.spl?"	"p.?"	"i20"
"0000016940"	"00000050"	"77"	"2816"	"-4"	"2822"	"0"	"c.2816-4_2822del"	"r.spl?"	"p.?"	"i20"
"0000016941"	"00000050"	"77"	"2927"	"1"	"2927"	"1"	"c.2927+1G>A"	"r.spl?"	"p.?"	"i21"
"0000016943"	"00000050"	"77"	"3388"	"-2"	"3388"	"-2"	"c.3388-2A>G"	"r.spl?"	"p.?"	"i26"
"0000016944"	"00000050"	"77"	"3481"	"1"	"3481"	"1"	"c.3481+1G>T"	"r.spl?"	"p.?"	"i27"
"0000016945"	"00000050"	"77"	"3595"	"-2"	"3595"	"-2"	"c.3595-2A>G"	"r.spl?"	"p.?"	"i28"
"0000038110"	"00000050"	"99"	"468"	"0"	"468"	"0"	"c.468C>G"	"r.(?)"	"p.(Tyr156*)"	"04"
"0000038111"	"00000050"	"99"	"3478"	"0"	"3478"	"0"	"c.3478C>T"	"r.(?)"	"p.(Arg1160*)"	"27"
"0000038112"	"00000050"	"75"	"1655"	"0"	"1655"	"0"	"c.1655C>A"	"r.(?)"	"p.(Ala552Asp)"	""
"0000038118"	"00000050"	"77"	"3059"	"0"	"3059"	"0"	"c.3059G>T"	"r.(?)"	"p.(Gly1020Val)"	""
"0000038121"	"00000050"	"77"	"2678"	"0"	"2679"	"0"	"c.2678_2679dup"	"r.(?)"	"p.(Tyr894Hisfs*12)"	""
"0000038122"	"00000050"	"77"	"2600"	"0"	"2600"	"0"	"c.2600G>A"	"r.(?)"	"p.(Gly867Asp)"	""
"0000038136"	"00000050"	"77"	"710"	"0"	"710"	"0"	"c.710T>C"	"r.(?)"	"p.(Leu237Pro)"	"07"
"0000038137"	"00000050"	"77"	"2734"	"0"	"2734"	"0"	"c.2734G>A"	"r.(?)"	"p.(Ala912Thr)"	""
"0000038138"	"00000050"	"00"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000038139"	"00000050"	"77"	"1847"	"0"	"1847"	"0"	"c.1847A>G"	"r.(?)"	"p.(Asp616Gly)"	"14"
"0000038140"	"00000050"	"77"	"1170"	"2"	"1170"	"2"	"c.1170+2T>C"	"r.spl?"	"p.?"	"i09"
"0000038141"	"00000050"	"77"	"2417"	"0"	"2417"	"0"	"c.2417C>G"	"r.(?)"	"p.(Ala806Gly)"	"18"
"0000038142"	"00000050"	"77"	"3343"	"0"	"3343"	"0"	"c.3343G>T"	"r.(?)"	"p.(Glu1115*)"	"26"
"0000038144"	"00000050"	"77"	"2540"	"0"	"2543"	"0"	"c.2540_2543del"	"r.(?)"	"p.(Thr847Argfs*57)"	"19"
"0000038153"	"00000050"	"99"	"106"	"0"	"106"	"0"	"c.106del"	"r.(?)"	"p.(Ala36Profs*6)"	""
"0000038898"	"00000050"	"90"	"515"	"0"	"517"	"0"	"c.515_517del"	"r.(?)"	"p.(Thr172del)"	"4"
"0000038899"	"00000050"	"97"	"3250"	"0"	"3250"	"0"	"c.3250dup"	"r.(?)"	"p.(Val1084Glyfs*12)"	"24"
"0000039311"	"00000050"	"90"	"1701"	"0"	"1701"	"0"	"c.1701C>A"	"r.(?)"	"p.(Cys567*)"	"13"
"0000039312"	"00000050"	"70"	"1868"	"0"	"1868"	"0"	"c.1868G>T"	"r.(?)"	"p.(Cys623Phe)"	"14"
"0000039611"	"00000050"	"90"	"1701"	"0"	"1701"	"0"	"c.1701C>A"	"r.(?)"	"p.(Cys567*)"	"13"
"0000039612"	"00000050"	"90"	"3343"	"0"	"3343"	"0"	"c.3343G>T"	"r.(?)"	"p.(Glu1115*)"	"26"
"0000039614"	"00000050"	"70"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Arg367Cys)"	"9"
"0000039615"	"00000050"	"50"	"361"	"0"	"361"	"0"	"c.361G>A"	"r.(?)"	"p.(Glu121Lys)"	"3"
"0000039619"	"00000050"	"90"	"1930"	"5"	"1930"	"5"	"c.1930+5G>A"	"r.1900_1930del"	"p.Val634Thrfs*13"	"14i"
"0000040401"	"00000050"	"90"	"3250"	"0"	"3250"	"0"	"c.3250dup"	"r.(?)"	"p.(Val1084Glyfs*12)"	"24"
"0000046798"	"00000050"	"77"	"2213"	"-2"	"2213"	"-2"	"c.2213-2dup"	"r.spl?"	"p.?"	"i16"
"0000046799"	"00000050"	"77"	"1758"	"-8"	"1785"	"0"	"c.1758-8_1785del"	"r.spl?"	"p.?"	""
"0000047879"	"00000050"	"50"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Pro264Arg)"	"7"
"0000047986"	"00000050"	"50"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Pro264Arg)"	"7"
"0000047999"	"00000050"	"50"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Pro264Arg)"	"7"
"0000048003"	"00000050"	"50"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Pro264Arg)"	"7"
"0000058531"	"00000050"	"90"	"1440"	"1"	"1440"	"1"	"c.1440+1G>A"	"r.spl?"	"p.?"	"i"
"0000079520"	"00000050"	"00"	"2491"	"0"	"2491"	"0"	"c.2491C>T"	"r.(?)"	"p.(Arg831Cys)"	""
"0000079684"	"00000050"	"00"	"2335"	"-1"	"2335"	"-1"	"c.2335-1G>A"	"r.spl?"	"p.?"	""
"0000090045"	"00000050"	"70"	"2900"	"0"	"2900"	"0"	"c.2900G>T"	"r.(?)"	"p.(Gly967Val)"	"21"
"0000090046"	"00000050"	"70"	"1701"	"0"	"1701"	"0"	"c.1701C>A"	"r.(?)"	"p.(Cys567*)"	"13"
"0000251116"	"00000050"	"10"	"1175"	"0"	"1175"	"0"	"c.1175T>C"	"r.(?)"	"p.(Leu392Pro)"	""
"0000296596"	"00000050"	"90"	"1138"	"0"	"1138"	"0"	"c.1138C>T"	"r.(?)"	"p.(Gln380Ter)"	""
"0000296597"	"00000050"	"90"	"121"	"0"	"122"	"0"	"c.121_122del"	"r.(?)"	"p.(Leu41AspfsTer50)"	""
"0000296598"	"00000050"	"10"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000296599"	"00000050"	"70"	"1707"	"0"	"1707"	"0"	"c.1707C>G"	"r.(?)"	"p.(Ser569Arg)"	""
"0000296600"	"00000050"	"10"	"2289"	"0"	"2289"	"0"	"c.2289C>T"	"r.(?)"	"p.(Val763=)"	""
"0000296601"	"00000050"	"10"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000296602"	"00000050"	"90"	"3325"	"0"	"3325"	"0"	"c.3325C>T"	"r.(?)"	"p.(Arg1109Ter)"	""
"0000296603"	"00000050"	"10"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000300373"	"00000050"	"10"	"-61"	"0"	"-61"	"0"	"c.-61G>A"	"r.(?)"	"p.(=)"	""
"0000300374"	"00000050"	"10"	"1012"	"68"	"1012"	"68"	"c.1012+68A>G"	"r.(=)"	"p.(=)"	""
"0000300375"	"00000050"	"30"	"1126"	"0"	"1126"	"0"	"c.1126C>G"	"r.(?)"	"p.(Leu376Val)"	""
"0000300376"	"00000050"	"10"	"1170"	"8"	"1170"	"8"	"c.1170+8G>A"	"r.(=)"	"p.(=)"	""
"0000300377"	"00000050"	"10"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000300378"	"00000050"	"10"	"17"	"0"	"17"	"0"	"c.17C>T"	"r.(?)"	"p.(Thr6Met)"	""
"0000300379"	"00000050"	"10"	"1930"	"10"	"1930"	"10"	"c.1930+10C>T"	"r.(=)"	"p.(=)"	""
"0000300380"	"00000050"	"10"	"2289"	"0"	"2289"	"0"	"c.2289C>T"	"r.(?)"	"p.(Val763=)"	""
"0000300381"	"00000050"	"10"	"2927"	"24"	"2927"	"24"	"c.2927+24G>C"	"r.(=)"	"p.(=)"	""
"0000300382"	"00000050"	"10"	"3230"	"0"	"3230"	"0"	"c.3230A>G"	"r.(?)"	"p.(Asn1077Ser)"	""
"0000300384"	"00000050"	"10"	"3286"	"36"	"3286"	"36"	"c.3286+36C>T"	"r.(=)"	"p.(=)"	""
"0000300385"	"00000050"	"10"	"3287"	"-67"	"3287"	"-67"	"c.3287-67G>A"	"r.(=)"	"p.(=)"	""
"0000300386"	"00000050"	"10"	"3315"	"0"	"3315"	"0"	"c.3315G>A"	"r.(?)"	"p.(Ser1105=)"	""
"0000300387"	"00000050"	"10"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000300388"	"00000050"	"10"	"3595"	"-9"	"3595"	"-9"	"c.3595-9G>T"	"r.(=)"	"p.(=)"	""
"0000300389"	"00000050"	"10"	"397"	"15"	"397"	"15"	"c.397+15C>T"	"r.(=)"	"p.(=)"	""
"0000300390"	"00000050"	"10"	"526"	"83"	"526"	"83"	"c.526+83C>T"	"r.(=)"	"p.(=)"	""
"0000300391"	"00000050"	"10"	"563"	"0"	"563"	"0"	"c.563A>T"	"r.(?)"	"p.(Asn188Ile)"	""
"0000300392"	"00000050"	"10"	"59"	"-5"	"59"	"-5"	"c.59-5C>G"	"r.spl?"	"p.?"	""
"0000300393"	"00000050"	"10"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Pro264Arg)"	""
"0000300394"	"00000050"	"10"	"881"	"0"	"881"	"0"	"c.881C>T"	"r.(?)"	"p.(Thr294Ile)"	""
"0000337855"	"00000050"	"10"	"3595"	"-9"	"3595"	"-9"	"c.3595-9G>T"	"r.(=)"	"p.(=)"	""
"0000337856"	"00000050"	"90"	"3481"	"1"	"3481"	"1"	"c.3481+1G>T"	"r.spl?"	"p.?"	""
"0000337857"	"00000050"	"10"	"3312"	"-43"	"3312"	"-43"	"c.3312-43G>A"	"r.(=)"	"p.(=)"	""
"0000337858"	"00000050"	"10"	"2507"	"-20"	"2507"	"-20"	"c.2507-20G>A"	"r.(=)"	"p.(=)"	""
"0000337859"	"00000050"	"90"	"2335"	"-1"	"2335"	"-1"	"c.2335-1G>A"	"r.spl?"	"p.?"	""
"0000337860"	"00000050"	"10"	"840"	"6"	"840"	"6"	"c.840+6G>A"	"r.(=)"	"p.(=)"	""
"0000337861"	"00000050"	"50"	"274"	"3"	"274"	"3"	"c.274+3A>T"	"r.spl?"	"p.?"	""
"0000337862"	"00000050"	"10"	"59"	"-5"	"59"	"-5"	"c.59-5C>G"	"r.spl?"	"p.?"	""
"0000339907"	"00000050"	"10"	"3315"	"0"	"3315"	"0"	"c.3315G>A"	"r.(?)"	"p.(Ser1105=)"	""
"0000339908"	"00000050"	"10"	"2289"	"0"	"2289"	"0"	"c.2289C>T"	"r.(?)"	"p.(Val763=)"	""
"0000339909"	"00000050"	"10"	"2223"	"0"	"2223"	"0"	"c.2223C>T"	"r.(?)"	"p.(Thr741=)"	""
"0000339910"	"00000050"	"10"	"1926"	"0"	"1926"	"0"	"c.1926A>G"	"r.(?)"	"p.(Val642=)"	""
"0000339911"	"00000050"	"10"	"1320"	"0"	"1320"	"0"	"c.1320C>T"	"r.(?)"	"p.(Pro440=)"	""
"0000339912"	"00000050"	"10"	"1110"	"0"	"1110"	"0"	"c.1110T>C"	"r.(?)"	"p.(Val370=)"	""
"0000339913"	"00000050"	"10"	"294"	"0"	"294"	"0"	"c.294C>T"	"r.(?)"	"p.(Ile98=)"	""
"0000341719"	"00000050"	"90"	"3325"	"0"	"3325"	"0"	"c.3325C>T"	"r.(?)"	"p.(Arg1109Ter)"	""
"0000341761"	"00000050"	"90"	"3478"	"0"	"3478"	"0"	"c.3478C>T"	"r.(?)"	"p.(Arg1160Ter)"	""
"0000342843"	"00000050"	"10"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000343140"	"00000050"	"70"	"1756"	"0"	"1756"	"0"	"c.1756A>G"	"r.(?)"	"p.(Arg586Gly)"	""
"0000343293"	"00000050"	"90"	"2131"	"0"	"2131"	"0"	"c.2131C>A"	"r.(?)"	"p.(Arg711Ser)"	""
"0000343327"	"00000050"	"90"	"2227"	"0"	"2227"	"0"	"c.2227C>T"	"r.(?)"	"p.(Arg743Cys)"	""
"0000343403"	"00000050"	"90"	"2491"	"0"	"2491"	"0"	"c.2491C>T"	"r.(?)"	"p.(Arg831Cys)"	""
"0000344434"	"00000050"	"70"	"1868"	"0"	"1868"	"0"	"c.1868G>T"	"r.(?)"	"p.(Cys623Phe)"	""
"0000344509"	"00000050"	"90"	"3442"	"0"	"3442"	"0"	"c.3442C>T"	"r.(?)"	"p.(Gln1148Ter)"	""
"0000345075"	"00000050"	"10"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000346996"	"00000050"	"90"	"644"	"0"	"644"	"0"	"c.644T>G"	"r.(?)"	"p.(Leu215Arg)"	""
"0000348837"	"00000050"	"50"	"658"	"0"	"658"	"0"	"c.658T>G"	"r.(?)"	"p.(Ser220Ala)"	""
"0000348980"	"00000050"	"90"	"1192"	"0"	"1192"	"0"	"c.1192T>C"	"r.(?)"	"p.(Ser398Pro)"	""
"0000348984"	"00000050"	"50"	"1199"	"0"	"1199"	"0"	"c.1199C>A"	"r.(?)"	"p.(Ser400Tyr)"	""
"0000349099"	"00000050"	"70"	"1715"	"0"	"1715"	"0"	"c.1715G>A"	"r.(?)"	"p.(Ser572Asn)"	""
"0000349664"	"00000050"	"90"	"2944"	"0"	"2944"	"0"	"c.2944dup"	"r.(?)"	"p.(Thr982AsnfsTer36)"	""
"0000349742"	"00000050"	"70"	"741"	"0"	"741"	"0"	"c.741G>T"	"r.(?)"	"p.(Trp247Cys)"	""
"0000349892"	"00000050"	"70"	"3549"	"0"	"3549"	"0"	"c.3549C>A"	"r.(?)"	"p.(Tyr1183Ter)"	""
"0000349931"	"00000050"	"90"	"468"	"0"	"468"	"0"	"c.468C>G"	"r.(?)"	"p.(Tyr156Ter)"	""
"0000350595"	"00000050"	"30"	"1703"	"0"	"1703"	"0"	"c.1703T>C"	"r.(?)"	"p.(Val568Ala)"	""
"0000464269"	"00000050"	"30"	"1339"	"0"	"1339"	"0"	"c.1339G>A"	"r.(?)"	"p.(Glu447Lys)"	""
"0000464270"	"00000050"	"30"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000464271"	"00000050"	"70"	"2456"	"0"	"2456"	"0"	"c.2456A>T"	"r.(?)"	"p.(Asp819Val)"	"11"
"0000567010"	"00000050"	"90"	"3478"	"0"	"3478"	"0"	"c.3478C>T"	"r.(?)"	"p.(Arg1160Ter)"	""
"0000567011"	"00000050"	"30"	"3418"	"0"	"3418"	"0"	"c.3418C>A"	"r.(?)"	"p.(Arg1140Ser)"	""
"0000567012"	"00000050"	"30"	"3364"	"0"	"3364"	"0"	"c.3364G>C"	"r.(?)"	"p.(Glu1122Gln)"	""
"0000567013"	"00000050"	"90"	"3356"	"0"	"3357"	"0"	"c.3356_3357dup"	"r.(?)"	"p.(Thr1120GlyfsTer24)"	""
"0000567014"	"00000050"	"90"	"3250"	"0"	"3250"	"0"	"c.3250dup"	"r.(?)"	"p.(Val1084GlyfsTer12)"	""
"0000567015"	"00000050"	"50"	"3100"	"0"	"3100"	"0"	"c.3100A>G"	"r.(?)"	"p.(Thr1034Ala)"	""
"0000567016"	"00000050"	"30"	"2620"	"0"	"2620"	"0"	"c.2620A>G"	"r.(?)"	"p.(Thr874Ala)"	""
"0000567017"	"00000050"	"30"	"2398"	"0"	"2398"	"0"	"c.2398C>T"	"r.(?)"	"p.(Arg800Cys)"	""
"0000567019"	"00000050"	"10"	"2213"	"-99"	"2213"	"-99"	"c.2213-99C>T"	"r.(=)"	"p.(=)"	""
"0000567022"	"00000050"	"50"	"1822"	"0"	"1822"	"0"	"c.1822G>A"	"r.(?)"	"p.(Val608Ile)"	""
"0000567025"	"00000050"	"30"	"803"	"0"	"803"	"0"	"c.803G>A"	"r.(?)"	"p.(Arg268Gln)"	""
"0000567027"	"00000050"	"30"	"656"	"0"	"656"	"0"	"c.656C>T"	"r.(?)"	"p.(Ala219Val)"	""
"0000617554"	"00000050"	"90"	"3250"	"0"	"3250"	"0"	"c.3250dup"	"r.(?)"	"p.(Val1084GlyfsTer12)"	""
"0000617555"	"00000050"	"50"	"1258"	"0"	"1258"	"0"	"c.1258T>G"	"r.(?)"	"p.(Phe420Val)"	""
"0000623985"	"00000050"	"30"	"791"	"0"	"791"	"0"	"c.791C>G"	"r.(?)"	"p.(Pro264Arg)"	""
"0000649940"	"00000050"	"50"	"2746"	"0"	"2746"	"0"	"c.2746G>T"	"r.(?)"	"p.(Ala916Ser)"	""
"0000649941"	"00000050"	"50"	"2464"	"0"	"2464"	"0"	"c.2464G>A"	"r.(?)"	"p.(Val822Met)"	""
"0000649942"	"00000050"	"50"	"2456"	"0"	"2456"	"0"	"c.2456A>T"	"r.(?)"	"p.(Asp819Val)"	""
"0000649943"	"00000050"	"70"	"2043"	"0"	"2043"	"0"	"c.2043G>T"	"r.(?)"	"p.(Trp681Cys)"	""
"0000649944"	"00000050"	"70"	"1868"	"0"	"1868"	"0"	"c.1868G>T"	"r.(?)"	"p.(Cys623Phe)"	""
"0000649945"	"00000050"	"50"	"1339"	"0"	"1339"	"0"	"c.1339G>A"	"r.(?)"	"p.(Glu447Lys)"	""
"0000649946"	"00000050"	"30"	"1223"	"0"	"1223"	"0"	"c.1223G>A"	"r.(?)"	"p.(Arg408Gln)"	""
"0000649947"	"00000050"	"70"	"1219"	"0"	"1219"	"0"	"c.1219C>T"	"r.(?)"	"p.(Arg407Trp)"	""
"0000649948"	"00000050"	"10"	"1175"	"0"	"1175"	"0"	"c.1175T>C"	"r.(?)"	"p.(Leu392Pro)"	""
"0000649949"	"00000050"	"90"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Arg367Cys)"	""
"0000649950"	"00000050"	"70"	"1019"	"0"	"1019"	"0"	"c.1019C>A"	"r.(?)"	"p.(Pro340His)"	""
"0000649951"	"00000050"	"10"	"881"	"0"	"881"	"0"	"c.881C>T"	"r.(?)"	"p.(Thr294Ile)"	""
"0000649952"	"00000050"	"70"	"766"	"0"	"766"	"0"	"c.766C>T"	"r.(?)"	"p.(Arg256Trp)"	""
"0000658549"	"00000050"	"30"	"3418"	"0"	"3418"	"0"	"c.3418C>A"	"r.(?)"	"p.(Arg1140Ser)"	""
"0000665817"	"00000050"	"90"	"515"	"0"	"517"	"0"	"c.515_517del"	"r.(?)"	"p.(Thr172del)"	""
"0000669473"	"00000050"	"10"	"881"	"0"	"881"	"0"	"c.881C>T"	"r.(?)"	"p.(Thr294Ile)"	""
"0000673964"	"00000050"	"90"	"3027"	"0"	"3027"	"0"	"c.3027C>G"	"r.(?)"	"p.(Tyr1009*)"	""
"0000681387"	"00000050"	"30"	"1289"	"0"	"1289"	"0"	"c.1289A>G"	"r.(?)"	"p.(Lys430Arg)"	""
"0000681388"	"00000050"	"50"	"-16905"	"0"	"-16905"	"0"	"c.-16905C>A"	"r.(?)"	"p.(=)"	""
"0000684805"	"00000050"	"30"	"2869"	"0"	"2869"	"0"	"c.2869G>C"	"r.(?)"	"p.(Val957Leu)"	""
"0000684806"	"00000050"	"30"	"1802"	"0"	"1802"	"0"	"c.1802G>C"	"r.(?)"	"p.(Gly601Ala)"	""
"0000684807"	"00000050"	"30"	"1339"	"0"	"1339"	"0"	"c.1339G>A"	"r.(?)"	"p.(Glu447Lys)"	""
"0000684808"	"00000050"	"30"	"65"	"0"	"65"	"0"	"c.65C>T"	"r.(?)"	"p.(Ala22Val)"	""
"0000692772"	"00000050"	"30"	"2746"	"0"	"2746"	"0"	"c.2746G>T"	"r.(?)"	"p.(Ala916Ser)"	""
"0000698257"	"00000050"	"90"	"2678"	"0"	"2679"	"0"	"c.2678_2679dup"	"r.(?)"	"p.(Tyr894Hisfs*12)"	""
"0000698271"	"00000050"	"30"	"563"	"0"	"563"	"0"	"c.563A>T"	"r.(?)"	"p.(Asn188Ile)"	""
"0000727282"	"00000050"	"30"	"3679"	"0"	"3679"	"0"	"c.3679C>G"	"r.(?)"	"p.(Leu1227Val)"	""
"0000727283"	"00000050"	"30"	"3130"	"0"	"3130"	"0"	"c.3130G>A"	"r.(?)"	"p.(Glu1044Lys)"	""
"0000727284"	"00000050"	"30"	"2506"	"13"	"2506"	"13"	"c.2506+13C>A"	"r.(=)"	"p.(=)"	""
"0000727285"	"00000050"	"90"	"1868"	"0"	"1868"	"0"	"c.1868G>T"	"r.(?)"	"p.(Cys623Phe)"	""
"0000727286"	"00000050"	"30"	"1638"	"0"	"1638"	"0"	"c.1638T>G"	"r.(?)"	"p.(Thr546=)"	""
"0000727287"	"00000050"	"50"	"860"	"0"	"860"	"0"	"c.860C>G"	"r.(?)"	"p.(Thr287Arg)"	""
"0000727288"	"00000050"	"50"	"427"	"0"	"427"	"0"	"c.427G>C"	"r.(?)"	"p.(Glu143Gln)"	""
"0000727289"	"00000050"	"30"	"219"	"0"	"219"	"0"	"c.219C>T"	"r.(?)"	"p.(Pro73=)"	""
"0000727290"	"00000050"	"30"	"59"	"-19"	"59"	"-19"	"c.59-19C>A"	"r.(=)"	"p.(=)"	""
"0000795126"	"00000050"	"90"	"2152"	"0"	"2152"	"0"	"c.2152C>T"	"r.(?)"	"p.(Gln718*)"	""
"0000855533"	"00000050"	"30"	"3520"	"0"	"3520"	"0"	"c.3520C>T"	"r.(?)"	"p.(His1174Tyr)"	""
"0000855534"	"00000050"	"90"	"2404"	"0"	"2404"	"0"	"c.2404C>T"	"r.(?)"	"p.(Arg802Trp)"	""
"0000855535"	"00000050"	"50"	"1610"	"0"	"1610"	"0"	"c.1610C>T"	"r.(?)"	"p.(Thr537Met)"	""
"0000855536"	"00000050"	"10"	"1440"	"19"	"1440"	"19"	"c.1440+19C>T"	"r.(=)"	"p.(=)"	""
"0000855537"	"00000050"	"50"	"658"	"0"	"658"	"0"	"c.658T>G"	"r.(?)"	"p.(Ser220Ala)"	""
"0000855538"	"00000050"	"90"	"515"	"0"	"517"	"0"	"c.515_517del"	"r.(?)"	"p.(Thr172del)"	""
"0000855539"	"00000050"	"30"	"183"	"0"	"183"	"0"	"c.183G>A"	"r.(?)"	"p.(Ala61=)"	""
"0000866034"	"00000050"	"30"	"2869"	"0"	"2869"	"0"	"c.2869G>C"	"r.(?)"	"p.(Val957Leu)"	""
"0000866035"	"00000050"	"30"	"2580"	"0"	"2580"	"0"	"c.2580C>T"	"r.(?)"	"p.(Thr860=)"	""
"0000866036"	"00000050"	"30"	"2024"	"0"	"2024"	"0"	"c.2024C>T"	"r.(?)"	"p.(Ala675Val)"	""
"0000866037"	"00000050"	"30"	"1802"	"0"	"1802"	"0"	"c.1802G>C"	"r.(?)"	"p.(Gly601Ala)"	""
"0000866038"	"00000050"	"30"	"1339"	"0"	"1339"	"0"	"c.1339G>A"	"r.(?)"	"p.(Glu447Lys)"	""
"0000866039"	"00000050"	"10"	"803"	"0"	"803"	"0"	"c.803G>A"	"r.(?)"	"p.(Arg268Gln)"	""
"0000866040"	"00000050"	"30"	"748"	"0"	"748"	"0"	"c.748C>T"	"r.(?)"	"p.(Leu250=)"	""
"0000866041"	"00000050"	"30"	"151"	"0"	"151"	"0"	"c.151C>T"	"r.(?)"	"p.(Leu51=)"	""
"0000873908"	"00000050"	"10"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000873916"	"00000050"	"10"	"349"	"0"	"349"	"0"	"c.349G>A"	"r.(?)"	"p.(Glu117Lys)"	""
"0000881376"	"00000050"	"90"	"559"	"0"	"559"	"0"	"c.559G>A"	"r.(?)"	"p.(Val187Met)"	""
"0000894936"	"00000050"	"30"	"3598"	"0"	"3598"	"0"	"c.3598C>T"	"r.(?)"	"p.(Pro1200Ser)"	""
"0000894937"	"00000050"	"90"	"2606"	"0"	"2607"	"0"	"c.2606_2607dup"	"r.(?)"	"p.(Asn870Profs*36)"	""
"0000894938"	"00000050"	"30"	"2072"	"-6"	"2072"	"-6"	"c.2072-6C>T"	"r.(=)"	"p.(=)"	""
"0000894939"	"00000050"	"30"	"1930"	"12"	"1930"	"12"	"c.1930+12G>A"	"r.(=)"	"p.(=)"	""
"0000894940"	"00000050"	"30"	"1926"	"0"	"1926"	"0"	"c.1926A>G"	"r.(?)"	"p.(Val642=)"	""
"0000894941"	"00000050"	"30"	"1908"	"0"	"1908"	"0"	"c.1908C>T"	"r.(?)"	"p.(Ser636=)"	""
"0000894942"	"00000050"	"30"	"1758"	"-8"	"1758"	"-8"	"c.1758-8T>G"	"r.(=)"	"p.(=)"	""
"0000894943"	"00000050"	"30"	"1110"	"0"	"1110"	"0"	"c.1110T>C"	"r.(?)"	"p.(Val370=)"	""
"0000894944"	"00000050"	"30"	"840"	"6"	"840"	"6"	"c.840+6G>A"	"r.(=)"	"p.(=)"	""
"0000894945"	"00000050"	"30"	"528"	"0"	"528"	"0"	"c.528T>C"	"r.(?)"	"p.(Ser176=)"	""
"0000915203"	"00000050"	"30"	"3482"	"-7"	"3482"	"-7"	"c.3482-7A>T"	"r.(=)"	"p.(=)"	""
"0000915204"	"00000050"	"90"	"1756"	"0"	"1756"	"0"	"c.1756A>G"	"r.(?)"	"p.(Arg586Gly)"	""
"0000915205"	"00000050"	"30"	"1620"	"0"	"1620"	"0"	"c.1620G>C"	"r.(?)"	"p.(Ala540=)"	""
"0000915206"	"00000050"	"50"	"938"	"0"	"938"	"0"	"c.938C>T"	"r.(?)"	"p.(Ala313Val)"	""
"0000915207"	"00000050"	"30"	"65"	"0"	"65"	"0"	"c.65C>T"	"r.(?)"	"p.(Ala22Val)"	""
"0000926877"	"00000050"	"70"	"3619"	"0"	"3619"	"0"	"c.3619del"	"r.(?)"	"p.(Glu1207Lysfs*30)"	""
"0000926878"	"00000050"	"30"	"864"	"0"	"864"	"0"	"c.864G>A"	"r.(?)"	"p.(Ala288=)"	""
"0000931047"	"00000050"	"30"	"3562"	"0"	"3562"	"0"	"c.3562G>A"	"r.(?)"	"p.(Ala1188Thr)"	""
"0000951277"	"00000050"	"30"	"3321"	"0"	"3321"	"0"	"c.3321G>A"	"r.(?)"	"p.(=)"	""
"0000951278"	"00000050"	"30"	"2507"	"-13"	"2507"	"-13"	"c.2507-13C>T"	"r.(=)"	"p.(=)"	""
"0000951279"	"00000050"	"30"	"563"	"0"	"563"	"0"	"c.563A>T"	"r.(?)"	"p.(Asn188Ile)"	""
"0000969702"	"00000050"	"50"	"2869"	"0"	"2869"	"0"	"c.2869G>A"	"r.(?)"	"p.(Val957Met)"	""
"0000969704"	"00000050"	"30"	"1185"	"0"	"1185"	"0"	"c.1185T>C"	"r.(?)"	"p.(Gly395=)"	""
"0000969706"	"00000050"	"30"	"563"	"0"	"563"	"0"	"c.563A>T"	"r.(?)"	"p.(Asn188Ile)"	""
"0000969707"	"00000050"	"30"	"128"	"0"	"128"	"0"	"c.128T>C"	"r.(?)"	"p.(Val43Ala)"	""
"0000972098"	"00000050"	"90"	"2758"	"0"	"2758"	"0"	"c.2758T>C"	"r.(?)"	"p.(Cys920Arg)"	""
"0000983395"	"00000050"	"50"	"3418"	"0"	"3418"	"0"	"c.3418C>T"	"r.(?)"	"p.(Arg1140Cys)"	""
"0000983396"	"00000050"	"50"	"2591"	"0"	"2591"	"0"	"c.2591G>A"	"r.(?)"	"p.(Arg864His)"	""
"0000983397"	"00000050"	"10"	"2223"	"0"	"2223"	"0"	"c.2223C>T"	"r.(?)"	"p.(Thr741=)"	""
"0000983398"	"00000050"	"50"	"1367"	"0"	"1367"	"0"	"c.1367G>A"	"r.(?)"	"p.(Arg456Gln)"	""
"0000983399"	"00000050"	"30"	"697"	"0"	"697"	"0"	"c.697A>G"	"r.(?)"	"p.(Thr233Ala)"	""
"0000983400"	"00000050"	"50"	"658"	"0"	"658"	"0"	"c.658T>G"	"r.(?)"	"p.(Ser220Ala)"	""
"0000983401"	"00000050"	"30"	"115"	"0"	"115"	"0"	"c.115G>A"	"r.(?)"	"p.(Glu39Lys)"	""
"0001004666"	"00000050"	"30"	"2746"	"0"	"2746"	"0"	"c.2746G>T"	"r.(?)"	"p.(Ala916Ser)"	""
"0001004668"	"00000050"	"30"	"-8800"	"0"	"-8800"	"0"	"c.-8800C>T"	"r.(?)"	"p.(=)"	""
"0001017447"	"00000050"	"70"	"397"	"3"	"397"	"3"	"c.397+3A>G"	"r.spl?"	"p.?"	""
"0001017479"	"00000050"	"70"	"1103"	"0"	"1103"	"0"	"c.1103C>T"	"r.(?)"	"p.(Pro368Leu)"	""
"0001042877"	"00000050"	"70"	"3549"	"0"	"3549"	"0"	"c.3549C>A"	"r.(?)"	"p.(Tyr1183Ter)"	""
"0001042878"	"00000050"	"50"	"2818"	"0"	"2818"	"0"	"c.2818C>T"	"r.(?)"	"p.(Arg940Cys)"	""
"0001042880"	"00000050"	"90"	"2606"	"0"	"2607"	"0"	"c.2606_2607dup"	"r.(?)"	"p.(Asn870Profs*36)"	""
"0001042882"	"00000050"	"90"	"1868"	"0"	"1868"	"0"	"c.1868G>T"	"r.(?)"	"p.(Cys623Phe)"	""
"0001042883"	"00000050"	"30"	"1320"	"0"	"1320"	"0"	"c.1320C>T"	"r.(?)"	"p.(Pro440=)"	""
"0001042884"	"00000050"	"30"	"881"	"0"	"881"	"0"	"c.881C>T"	"r.(?)"	"p.(Thr294Ile)"	""
"0001046730"	"00000050"	"70"	"2404"	"0"	"2404"	"0"	"c.2404C>T"	"r.(?)"	"p.(Arg802Trp)"	""
"0001046731"	"00000050"	"10"	"2398"	"0"	"2398"	"0"	"c.2398C>T"	"r.(?)"	"p.(Arg800Cys)"	""
"0001046732"	"00000050"	"30"	"126"	"0"	"126"	"0"	"c.126G>T"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 127
"{{screeningid}}"	"{{variantid}}"
"0000000004"	"0000000807"
"0000000004"	"0000000832"
"0000000007"	"0000000833"
"0000000008"	"0000000813"
"0000000009"	"0000000827"
"0000000012"	"0000000831"
"0000000014"	"0000000802"
"0000000014"	"0000000817"
"0000000015"	"0000000773"
"0000000016"	"0000000806"
"0000000017"	"0000000798"
"0000000018"	"0000000799"
"0000000020"	"0000000823"
"0000000022"	"0000000809"
"0000000022"	"0000000824"
"0000000024"	"0000000771"
"0000000024"	"0000000816"
"0000000025"	"0000000774"
"0000000026"	"0000000787"
"0000000027"	"0000000790"
"0000000028"	"0000000796"
"0000000028"	"0000000815"
"0000000031"	"0000000829"
"0000000037"	"0000000803"
"0000000039"	"0000000780"
"0000000039"	"0000000822"
"0000000041"	"0000000782"
"0000000041"	"0000000808"
"0000000042"	"0000000785"
"0000000042"	"0000000825"
"0000000043"	"0000000786"
"0000000043"	"0000000810"
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