### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NPHP3)
# 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}}"
"NPHP3"	"nephronophthisis 3 (adolescent)"	"3"	"q22"	"unknown"	"NG_008130.2"	"UD_132085297270"	""	"https://www.LOVD.nl/NPHP3"	""	"1"	"7907"	"27031"	"608002"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font><br>Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/NPHP3_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00002"	"2012-02-13 00:00:00"	"00006"	"2022-02-21 18:46:41"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00025697"	"NPHP3"	"nephronophthisis 3 (adolescent)"	"001"	"NM_153240.4"	""	"NP_694972.3"	""	""	""	"-104"	"5294"	"3993"	"132441303"	"132399453"	"00006"	"2022-02-21 18:47:41"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00374"	"NPHP1"	"nephronophthisis, type 1"	"AR"	"256100"	""	""	""	"00006"	"2014-05-02 09:58:21"	"00006"	"2022-01-23 12:29:39"
"01669"	"RHPD1"	"dysplasia, renal-hepatic-pancreatic, type 1 (RHPD-1)"	"AR"	"208540"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02051"	"MKS7"	"Meckel syndrome, type 7 (MKS-7, Dandy-Walker cyst, renal-hepatic-pancreatic dysplasia)"	"AR"	"267010"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02506"	"NPHP3"	"nephronophthisis, type 3 (NPHP-3)"	"AR"	"604387"	""	""	""	"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"
"04222"	"PKD"	"kidney disease, polycystic (PKD)"	""	""	""	""	""	"00006"	"2015-03-13 11:12:15"	"00006"	"2017-11-15 22:09:51"
"06892"	"NPHP"	"nephronophthisis"	""	""	""	""	""	"00006"	"2022-01-23 12:29:57"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"NPHP3"	"01669"
"NPHP3"	"02051"
"NPHP3"	"02506"


## Individuals ## Do not remove or alter this header ##
## Count = 60
"{{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}}"
"00033130"	""	""	""	"1"	""	"00229"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00164068"	""	""	""	"1"	""	"02473"	""	""	"F"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"Sayer JA"
"00164069"	""	""	""	"1"	""	"02473"	""	""	"?"	"no"	"Germany"	""	"0"	""	""	""	"Sayer JA"
"00164805"	""	""	""	"1"	""	"02473"	""	""	"F"	"no"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"CW"
"00288883"	""	""	""	"1"	""	"03601"	"{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}"	""	"F"	"?"	"Oman"	"01y"	"0"	""	""	""	"P14"
"00289042"	""	""	""	"1"	""	"03601"	"{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}"	"fetus from consanguineous family with history of 2 fetal deaths"	"F"	"yes"	"Oman"	"00y00m00d00h"	"0"	""	""	"Arabs"	"P21"
"00293215"	""	""	""	"60"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293216"	""	""	""	"236"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293217"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293218"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293219"	""	""	""	"2"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293220"	""	""	""	"24"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293221"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00299640"	""	""	""	"1"	""	"00006"	"{PMID:Arno 2017:28132693}"	"3-generation family, 1 affeted, unaffected heterozygous carrier parents"	"F"	""	""	""	"0"	""	""	""	"FamGC18203Pat1"
"00304925"	""	""	""	"9"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00358964"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case72007"
"00377778"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2011:21068128}"	""	""	"no"	"Italy"	""	"0"	""	""	""	""
"00377913"	""	""	""	"1"	""	"00000"	"{PMID:Chaki 2011:21422230}"	""	""	""	""	""	"0"	""	""	""	""
"00377914"	""	""	""	"1"	""	"00000"	"{PMID:Chaki 2011:21422230}"	""	""	""	""	""	"0"	""	""	""	""
"00385081"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2020:31630094}"	""	"?"	"no"	"China"	""	"0"	""	""	""	"67330"
"00385228"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	"Morocco"	""	"0"	""	""	""	""
"00385231"	""	""	""	"1"	""	"00000"	"{PMID:Redin-2012:22773737}"	""	""	""	""	""	"0"	""	""	"Melanesian"	""
"00399801"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"330"
"00399802"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"823"
"00399803"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"723"
"00399804"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"1030"
"00399805"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"835"
"00399806"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"516"
"00399807"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"1006"
"00399808"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"1007"
"00399809"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"1013"
"00399810"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"1017"
"00399811"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"1029"
"00399812"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"1023"
"00399813"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"884"
"00399814"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"1008"
"00399815"	""	""	""	"1"	""	"00006"	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	""	""	"China"	""	"0"	""	""	""	"1015"
"00403762"	""	""	""	"1"	""	"00006"	"{PMID:Larrue 2020:34545098}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents"	"F;M"	""	"France"	""	"0"	""	""	""	"family"
"00407374"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2008:18076122}"	"two individuals from this family"	"?"	"yes"	"Italy"	""	"0"	""	""	""	"F86-1"
"00407375"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2008:18076122}"	"two individuals from this family"	"?"	"yes"	"Italy"	""	"0"	""	""	""	"F86-2"
"00407376"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2008:18076122}"	"two individuals from this family"	"?"	"yes"	"Turkey"	""	"0"	""	""	""	"A1125-1"
"00407377"	""	""	""	"1"	""	"00000"	"{PMID:Otto 2008:18076122}"	"two individuals from this family"	"?"	"yes"	"Turkey"	""	"0"	""	""	""	"A1125-2"
"00407643"	""	""	""	"1"	""	"00000"	"{PMID:Kang 2016:27491411}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"HNF-38"
"00407651"	""	""	""	"1"	""	"00000"	"{PMID:Kang 2016:27491411}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"J-4"
"00407652"	""	""	""	"1"	""	"00000"	"{PMID:Kang 2016:27491411}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"J-46"
"00407662"	""	""	""	"1"	""	"00000"	"{PMID:Kang 2016:27491411}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"J-83"
"00413401"	""	""	""	"1"	""	"03612"	""	""	"M"	"yes"	"Saudi Arabia"	"00y06m"	""	""	""	"Arab"	"IV:1"
"00414704"	""	""	""	"1"	""	"00000"	"{PMID:Bell 2011:21228398}"	""	"?"	""	""	""	"0"	""	""	""	"NA01210"
"00418821"	""	""	""	"1"	""	"00000"	"{PMID:Hoefele 2007:17855640}"	"family F9, individual II-1"	"M"	""	"Germany"	""	"0"	""	""	""	"F9_II-1"
"00418822"	""	""	""	"1"	""	"00000"	"{PMID:Hoefele 2007:17855640}"	"family F9, individual II-2"	"F"	""	"Germany"	""	"0"	""	""	""	"F9_II-2"
"00418823"	""	""	""	"1"	""	"00000"	"{PMID:Hoefele 2007:17855640}"	"family F194, individual II-1"	"M"	""	"Germany"	""	"0"	""	""	""	"F194_II-1"
"00418824"	""	""	""	"1"	""	"00000"	"{PMID:Hoefele 2007:17855640}"	"family F906, individual II-2"	"F"	""	"Russia"	""	"0"	""	""	""	"F906_II-2"
"00418827"	""	""	""	"1"	""	"00000"	"{PMID:Hoefele 2007:17855640}"	"family A11, individual II-1"	"M"	""	"France"	""	"0"	""	""	""	"A11_II-1"
"00418828"	""	""	""	"1"	""	"00000"	"{PMID:Hoefele 2007:17855640}"	"family F24, individual II-1"	"F"	""	"Germany"	""	"0"	""	""	""	"F24_II-1"
"00418830"	""	""	""	"1"	""	"00000"	"{PMID:Hoefele 2007:17855640}"	"family F281, individual II-1"	""	""	"Germany"	""	"0"	""	""	""	"F281_II-1"
"00418831"	""	""	""	"1"	""	"00000"	"{PMID:Hoefele 2007:17855640}"	"family F16, individual II-3"	""	""	"France"	""	"0"	""	""	""	"F16_II-3"
"00418832"	""	""	""	"1"	""	"00000"	"{PMID:Hoefele 2007:17855640}"	"family F 440, individual II-2"	""	""	"Austria"	""	"0"	""	""	""	"F 440_II-2"
"00448868"	""	""	""	"1"	""	"00006"	"{PMID:Fujimaru 2021:34013113}"	""	""	""	"Japan"	""	"0"	""	""	""	"Pat720"
"00453405"	""	""	""	"1"	""	"00006"	"{PMID:Ozyavuz Cubuk 2024:38971859}"	""	"M"	""	"Turkey"	""	"0"	""	""	""	"Pat79"
"00457665"	""	""	""	"1"	""	"00006"	"{PMID:Lord 2024:39243181}"	""	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"PatNPHP3"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 60
"{{individualid}}"	"{{diseaseid}}"
"00033130"	"04214"
"00164068"	"02506"
"00164069"	"02506"
"00164805"	"02506"
"00288883"	"00374"
"00289042"	"04222"
"00293215"	"00198"
"00293216"	"00198"
"00293217"	"00198"
"00293218"	"00198"
"00293219"	"00198"
"00293220"	"00198"
"00293221"	"00198"
"00299640"	"04214"
"00304925"	"00198"
"00358964"	"04214"
"00377778"	"04214"
"00377913"	"04214"
"00377914"	"04214"
"00385081"	"04214"
"00385228"	"04214"
"00385231"	"04214"
"00399801"	"06892"
"00399802"	"06892"
"00399803"	"06892"
"00399804"	"06892"
"00399805"	"06892"
"00399806"	"06892"
"00399807"	"06892"
"00399808"	"06892"
"00399809"	"06892"
"00399810"	"06892"
"00399811"	"06892"
"00399812"	"06892"
"00399813"	"06892"
"00399814"	"06892"
"00399815"	"06892"
"00403762"	"06892"
"00407374"	"04214"
"00407375"	"04214"
"00407376"	"04214"
"00407377"	"04214"
"00407643"	"04214"
"00407651"	"04214"
"00407652"	"04214"
"00407662"	"04214"
"00413401"	"06892"
"00414704"	"04214"
"00418821"	"00374"
"00418822"	"00374"
"00418823"	"00374"
"00418824"	"00374"
"00418827"	"00374"
"00418828"	"00374"
"00418830"	"00374"
"00418831"	"00374"
"00418832"	"00374"
"00448868"	"04222"
"00453405"	"04222"
"00457665"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00374, 01669, 02051, 02506, 04214, 04222, 06892
## Count = 36
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Cysts}}"	"{{Phenotype/Hypertension/HPO_0000822}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000026559"	"04214"	"00033130"	"00229"	"Unknown"	"4y"	"Wilm\'s tumor"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000129177"	"02506"	"00164068"	"02473"	"Familial, autosomal recessive"	""	"congenital hepatic fibrosis \r\nend stage renal disease"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000129178"	"02506"	"00164069"	"02473"	"Familial, autosomal recessive"	""	"Severe chronic tubule-interstitial damage with atrophy of tubules, interstitial fibrosis and moderate interstitial inflammation\r\nHypertension\r\nEnd stage renal disease 15 years"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000129822"	"02506"	"00164805"	"02473"	"Familial, autosomal recessive"	"20y"	"congenital hepatic fibrosis \r\nend stage renal disease"	""	""	"13y"	""	""	""	""	""	""	""	"Nephronophthisis"	"Nephronophthisis"	""
"0000222579"	"00374"	"00288883"	"03601"	"Familial, autosomal recessive"	""	"Failure to thrive, chronic\r\nanaemia, ESRD 1 Y. Renal biopsy: cystic dilation of tubules,\r\nglomerulosclerosis and advanced interstitial\r\nscarring. Liver biopsy: bile duct proliferation,\r\nand hepatic fibrosis. Renal USS: increased\r\nechogenicity with loss of corticomedullary\r\ndifferentiation and cortical cysts noted in left\r\nkidney"	""	"01y"	""	""	""	""	""	""	""	""	"Nephronophthisis 3"	"NPHP"	""
"0000222676"	"04222"	"00289042"	"03601"	"Familial, autosomal recessive"	""	"Family history of 3 fetal\r\ndeaths. Antenatal USS: kidneys enlarged with no\r\ncorticomedullary differentiation. Lung\r\nhypoplasia."	""	""	""	""	""	""	""	""	""	""	"NPHP3"	"Antenatal cystic kidney disease"	""
"0000226950"	"04214"	"00299640"	"00006"	"Familial, autosomal recessive"	"37y"	"see paper; ..., 20y-reduced acuity (HP:0007663), mild nyctalopia (HP:0000662), blind spots (HP:0000575); irregular peripheral pigment (HP:0007703), pale discs (HP:0000543), cystoid macular edema (HP:0011505), vitreous opacities (HP:0007648), attenuated sheathed vessels (HP:0007843), peripheral retinal exudate (HP:0001147); 30y-subnormal PERG, rod specific ERG markedly subnormal, bright flash subnormal with unusual bifid b waves, cone specific delayed and subnormal, profound rod>cone dysfunction; 29y-colour vision Ishihara R 17/17 L 13/17; 36y-octopus visual fields central 20-30 degrees retained on R, 30-50 degrees on L;37y 24-2 central scotomas, fields constricted to 15 degrees each eye; presenting VA logMAR (Snellen) R 0.3 (20/40), L 0.18 (20/30); latest VA logMAR R 0.6 (20/80), L 0.6 (20/80); latest refractive error, dioptres R 0/-0.50x100, L +1.00/-0.75x110"	"20y"	""	""	""	""	""	""	""	""	""	"RP78"	"retinitis pigmentosa"	""
"0000254262"	"04214"	"00358964"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272924"	"04214"	"00377778"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Nephronophthisis"	""
"0000273059"	"04214"	"00377913"	"00000"	"Unknown"	"8m"	""	""	""	""	""	""	""	""	""	""	""	""	"Meckel-Gruber syndrome"	""
"0000273060"	"04214"	"00377914"	"00000"	"Unknown"	""	"mental retardation, molar tooth sign, cerebellar vermis hypoplasia"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000278865"	"04214"	"00385081"	"00000"	"Isolated (sporadic)"	"4y"	"nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: NA"	"3y"	""	""	""	""	""	""	""	""	""	"early onset severe retinal dystrophy"	"early onset severe retinal dystrophy"	""
"0000279024"	"04214"	"00385228"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000279027"	"04214"	"00385231"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""	"Bardet–Biedl Syndrome (BBS)"	""
"0000296461"	"06892"	"00403762"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"NPHP3"	"nephronophthisis"	""
"0000299728"	"04214"	"00407374"	"00000"	"Familial, autosomal recessive"	"9y"	"extrarenal manifestations: none"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000299729"	"04214"	"00407375"	"00000"	"Familial, autosomal recessive"	"11y"	"extrarenal manifestations: none"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000299730"	"04214"	"00407376"	"00000"	"Familial, autosomal recessive"	"4y"	"extrarenal manifestations: short stature"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000299731"	"04214"	"00407377"	"00000"	"Familial, autosomal recessive"	"4y"	"extrarenal manifestations: short stature"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000299790"	"04214"	"00407643"	"00000"	"Familial, autosomal recessive"	""	"end-stage renal disease (years): 16.7, extra-renal manifestations: none"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis-related ciliopathy"	""	""
"0000299798"	"04214"	"00407651"	"00000"	"Familial, autosomal recessive"	""	"end-stage renal disease (years): 16.7, extra-renal manifestations: elliptocytosis"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis-related ciliopathy"	""	""
"0000299799"	"04214"	"00407652"	"00000"	"Familial, autosomal recessive"	""	"end-stage renal disease (years): 3.1"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis-related ciliopathy"	""	""
"0000299809"	"04214"	"00407662"	"00000"	"Familial, autosomal recessive"	""	"end-stage renal disease (years): 8.4, extra-renal manifestations: none"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis-related ciliopathy"	""	""
"0000306499"	"04214"	"00414704"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"galactosemia"	""	""
"0000310118"	"00374"	"00418821"	"00000"	"Familial, autosomal recessive"	""	"age at end-stage renal failure: 7y; extrarenal manifestations: no data available"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000310119"	"00374"	"00418822"	"00000"	"Familial, autosomal recessive"	""	"age at end-stage renal failure: 11y; extrarenal manifestations: no data available"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000310120"	"00374"	"00418823"	"00000"	"Familial, autosomal recessive"	""	"age at end-stage renal failure: 31y; extrarenal manifestations: retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000310121"	"00374"	"00418824"	"00000"	"Familial, autosomal recessive"	""	"age at end-stage renal failure: 13y; extrarenal manifestations: retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000310124"	"00374"	"00418827"	"00000"	"Familial, autosomal recessive"	""	"age at end-stage renal failure: 3y; extrarenal manifestations: liver fibrosis"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000310125"	"00374"	"00418828"	"00000"	"Familial, autosomal recessive"	""	"extrarenal manifestations: no data available"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000310127"	"00374"	"00418830"	"00000"	"Familial, autosomal recessive"	""	"age at end-stage renal failure: 16y; extrarenal manifestations: retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000310128"	"00374"	"00418831"	"00000"	"Familial, autosomal recessive"	""	"age at end-stage renal failure: 11y; extrarenal manifestations: retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000310129"	"00374"	"00418832"	"00000"	"Familial, autosomal recessive"	""	"age at end-stage renal failure: 4y; extrarenal manifestations: liver fibrosis, cone shaped epiphysis, retinitis pigmentosa"	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""	""
"0000338043"	"04222"	"00448868"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"NPHP3"	"nephronophthisis"	""
"0000342068"	"04222"	"00453405"	"00006"	"Familial, autosomal recessive"	"1y"	"bilateral polycystic kidneys and liver, duodenal diverticulum"	""	""	""	""	""	""	""	""	""	""	""	"polycystic kidney disease"	""
"0000346124"	"00198"	"00457665"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., abnormal renal corpuscle morphology; abnormal liver morphology; abnormal urine metabolite level"	""	""	""	""	""	""	""	""	""	""	"NPHP3"	"proteinuric renal disease"	""


## Screenings ## Do not remove or alter this header ##
## Count = 61
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000033198"	"00033130"	"1"	"00229"	"00229"	"2012-02-04 14:23:49"	"00006"	"2012-05-18 13:59:33"	"SEQ;SEQ-NG-S"	"DNA"	""	""
"0000164935"	"00164068"	"1"	"02473"	"02473"	"2018-05-09 15:21:14"	""	""	"SEQ"	"DNA"	""	""
"0000164936"	"00164069"	"1"	"02473"	"02473"	"2018-05-09 16:27:55"	""	""	"SEQ"	"DNA"	"WBC dna"	""
"0000165670"	"00164805"	"1"	"02473"	"02473"	"2018-06-13 11:25:23"	""	""	"SEQ"	"DNA"	"WBC DNA"	""
"0000165671"	"00164805"	"1"	"02473"	"02473"	"2018-06-13 11:34:27"	""	""	"SEQ"	"DNA"	""	""
"0000290051"	"00288883"	"1"	"03601"	"03601"	"2020-02-24 10:35:47"	""	""	"SEQ-NG"	"DNA"	""	""
"0000290211"	"00289042"	"1"	"03601"	"03601"	"2020-02-26 06:59:02"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000294383"	"00293215"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294384"	"00293216"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294385"	"00293217"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294386"	"00293218"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294387"	"00293219"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294388"	"00293220"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000294389"	"00293221"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000300750"	"00299640"	"1"	"00006"	"00006"	"2020-04-18 08:53:03"	"00006"	"2020-04-18 08:55:30"	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000306054"	"00304925"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000360201"	"00358964"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378982"	"00377778"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ; SEQ-NG-S"	"DNA"	"Blood"	""
"0000379117"	"00377913"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	"blood"	""
"0000379118"	"00377914"	"1"	"00000"	"00008"	"2021-08-02 20:37:33"	""	""	"PCR; SEQ"	"DNA"	"blood"	""
"0000386310"	"00385081"	"1"	"00000"	"03840"	"2021-10-06 17:52:46"	""	""	"SEQ-NG"	"DNA"	""	"targeted next-generation sequencing"
"0000386457"	"00385228"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000386460"	"00385231"	"1"	"00000"	"00008"	"2021-10-09 03:44:00"	""	""	"arrayCNV;SEQ"	"DNA"	"blood"	""
"0000401044"	"00399801"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401045"	"00399802"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401046"	"00399803"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401047"	"00399804"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401048"	"00399805"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401049"	"00399806"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401050"	"00399807"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401051"	"00399808"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401052"	"00399809"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401053"	"00399810"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401054"	"00399811"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401055"	"00399812"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401056"	"00399813"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401057"	"00399814"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000401058"	"00399815"	"1"	"00006"	"00006"	"2022-01-23 12:37:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000405001"	"00403762"	"1"	"00006"	"00006"	"2022-02-21 19:04:25"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000408622"	"00407374"	"1"	"00000"	"03840"	"2022-04-06 14:28:33"	""	""	"HD;SEQ"	"DNA"	"blood"	"genes: NPHP1-NPHP19"
"0000408623"	"00407375"	"1"	"00000"	"03840"	"2022-04-06 14:28:33"	""	""	"HD;SEQ"	"DNA"	"blood"	"genes: NPHP1-NPHP20"
"0000408624"	"00407376"	"1"	"00000"	"03840"	"2022-04-06 14:28:33"	""	""	"HD;SEQ"	"DNA"	"blood"	"genes: NPHP1-NPHP21"
"0000408625"	"00407377"	"1"	"00000"	"03840"	"2022-04-06 14:28:33"	""	""	"HD;SEQ"	"DNA"	"blood"	"genes: NPHP1-NPHP22"
"0000408895"	"00407643"	"1"	"00000"	"03840"	"2022-04-07 15:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	"targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
"0000408903"	"00407651"	"1"	"00000"	"03840"	"2022-04-07 15:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	"targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
"0000408904"	"00407652"	"1"	"00000"	"03840"	"2022-04-07 15:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	"targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
"0000408914"	"00407662"	"1"	"00000"	"03840"	"2022-04-07 15:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	"targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
"0000414678"	"00413401"	"1"	"03612"	"03612"	"2022-07-17 12:52:13"	""	""	"SEQ-NG"	"DNA"	""	""
"0000415985"	"00414704"	"1"	"00000"	"03840"	"2022-08-02 11:28:48"	""	""	"SEQ-NG"	"DNA;RNA"	"blood"	""
"0000420118"	"00418821"	"1"	"00000"	"03840"	"2022-10-07 15:55:50"	""	""	"PCR"	"DNA"	"blood"	""
"0000420119"	"00418822"	"1"	"00000"	"03840"	"2022-10-07 15:55:50"	""	""	"PCR"	"DNA"	"blood"	""
"0000420120"	"00418823"	"1"	"00000"	"03840"	"2022-10-07 15:55:50"	""	""	"PCR"	"DNA"	"blood"	""
"0000420121"	"00418824"	"1"	"00000"	"03840"	"2022-10-07 15:55:50"	""	""	"PCR"	"DNA"	"blood"	""
"0000420124"	"00418827"	"1"	"00000"	"03840"	"2022-10-07 15:55:50"	""	""	"PCR"	"DNA"	"blood"	""
"0000420125"	"00418828"	"1"	"00000"	"03840"	"2022-10-07 15:55:50"	""	""	"PCR"	"DNA"	"blood"	""
"0000420127"	"00418830"	"1"	"00000"	"03840"	"2022-10-07 15:55:50"	""	""	"PCR"	"DNA"	"blood"	""
"0000420128"	"00418831"	"1"	"00000"	"03840"	"2022-10-07 15:55:50"	""	""	"PCR"	"DNA"	"blood"	""
"0000420129"	"00418832"	"1"	"00000"	"03840"	"2022-10-07 15:55:50"	""	""	"PCR"	"DNA"	"blood"	""
"0000450459"	"00448868"	"1"	"00006"	"00006"	"2024-04-19 13:49:55"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000455016"	"00453405"	"1"	"00006"	"00006"	"2024-08-21 10:09:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000459285"	"00457665"	"1"	"00006"	"00006"	"2024-11-15 17:25:55"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 44
"{{screeningid}}"	"{{geneid}}"
"0000033198"	"ABCA4"
"0000033198"	"GUCY2D"
"0000033198"	"NPHP3"
"0000033198"	"PDE6B"
"0000033198"	"RP9"
"0000164935"	"NPHP3"
"0000164936"	"NPHP3"
"0000165670"	"NPHP3"
"0000165671"	"NPHP3"
"0000290051"	"NPHP3"
"0000290211"	"NPHP3"
"0000300750"	"ARHGEF18"
"0000378982"	"NPHP3"
"0000379117"	"NPHP3"
"0000379118"	"NPHP3"
"0000386310"	"NPHP3"
"0000386457"	"BBS1"
"0000386460"	"ALMS1"
"0000405001"	"NPHP3"
"0000408622"	"NPHP3"
"0000408623"	"NPHP3"
"0000408624"	"NPHP3"
"0000408625"	"NPHP3"
"0000408895"	"NPHP3"
"0000408903"	"NPHP3"
"0000408904"	"NPHP3"
"0000408914"	"NPHP3"
"0000414678"	"NPHP1"
"0000414678"	"NPHP3"
"0000414678"	"NPHP3-ACAD11"
"0000414678"	"NPHP3-AS1"
"0000414678"	"NPHP4"
"0000414678"	"NPHS1"
"0000414678"	"NPHS2"
"0000415985"	"GALT"
"0000420118"	"NPHP1"
"0000420119"	"NPHP1"
"0000420120"	"NPHP1"
"0000420121"	"NPHP1"
"0000420124"	"NPHP3"
"0000420125"	"NPHP4"
"0000420127"	"INVS"
"0000420128"	"NPHP3"
"0000420129"	"NPHP3"


## 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 = 274
"{{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}}"
"0000060557"	"2"	"70"	"3"	"132433942"	"132433942"	"subst"	"0.000105632"	"00229"	"NPHP3_000002"	"g.132433942T>A"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted to affect function, but insufficient evidence for definite conclusion"	"Germline"	""	""	"0"	""	""	"g.132715098T>A"	""	"likely pathogenic"	""
"0000060558"	"1"	"10"	"3"	"132441046"	"132441046"	"subst"	"0.0136813"	"00229"	"NPHP3_000001"	"g.132441046C>T"	""	"{PMID:Neveling 2012:22334370}"	""	""	"predicted benign"	"Germline"	"no"	""	"0"	""	""	"g.132722202C>T"	""	"benign"	""
"0000246153"	"0"	"10"	"3"	"132401676"	"132401676"	"del"	"0"	"02330"	"NPHP3_000007"	"g.132401676del"	""	""	""	"NPHP3(NM_153240.5):c.3697-7delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132682832del"	""	"benign"	""
"0000246154"	"0"	"10"	"3"	"132406082"	"132406082"	"del"	"0"	"02330"	"NPHP3_000013"	"g.132406082del"	""	""	""	"NPHP3(NM_153240.5):c.3126-4delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132687238del"	""	"benign"	""
"0000246177"	"0"	"30"	"3"	"132423229"	"132423229"	"subst"	"0"	"02330"	"NPHP3_000034"	"g.132423229A>C"	""	""	""	"NPHP3(NM_153240.5):c.1351-14T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132704385A>C"	""	"likely benign"	""
"0000251298"	"0"	"10"	"3"	"132420390"	"132420390"	"del"	"0"	"02326"	"NPHP3_000033"	"g.132420390del"	""	""	""	"NPHP3(NM_153240.5):c.1525-5delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132701546del"	""	"benign"	""
"0000253768"	"0"	"10"	"3"	"132409501"	"132409501"	"subst"	"0.0304515"	"01943"	"NPHP3_000023"	"g.132409501A>G"	""	""	""	"NPHP3(NM_153240.4):c.2571-7T>C, NPHP3(NM_153240.5):c.2571-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132690657A>G"	""	"benign"	""
"0000253769"	"0"	"10"	"3"	"132434071"	"132434071"	"subst"	"4.0658E-6"	"01943"	"NPHP3_000039"	"g.132434071A>G"	""	""	""	"NPHP3(NM_153240.4):c.824-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132715227A>G"	""	"benign"	""
"0000255073"	"0"	"30"	"3"	"132434022"	"132434022"	"subst"	"0.0042252"	"01943"	"NPHP3_000038"	"g.132434022A>T"	""	""	""	"NPHP3(NM_153240.4):c.864T>A (p.T288=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132715178A>T"	""	"likely benign"	""
"0000255215"	"0"	"30"	"3"	"132424576"	"132424576"	"subst"	"0"	"01943"	"NPHP3_000035"	"g.132424576A>G"	""	""	""	"NPHP3(NM_153240.4):c.1350+8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132705732A>G"	""	"likely benign"	""
"0000255216"	"0"	"30"	"3"	"132437832"	"132437832"	"subst"	"2.43748E-5"	"01943"	"NPHP3_000041"	"g.132437832A>G"	""	""	""	"NPHP3(NM_153240.4):c.670+6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132718988A>G"	""	"likely benign"	""
"0000255851"	"0"	"50"	"3"	"132441118"	"132441118"	"subst"	"0"	"01943"	"NPHP3_000048"	"g.132441118A>G"	""	""	""	"NPHP3(NM_153240.4):c.82T>C (p.C28R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132722274A>G"	""	"VUS"	""
"0000293190"	"0"	"10"	"3"	"132441095"	"132441095"	"subst"	"0.00163522"	"02330"	"NPHP3_000047"	"g.132441095C>T"	""	""	""	"NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132722251C>T"	""	"benign"	""
"0000293191"	"0"	"10"	"3"	"132418756"	"132418756"	"subst"	"0.00153636"	"02330"	"NPHP3_000029"	"g.132418756C>T"	""	""	""	"NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132699912C>T"	""	"benign"	""
"0000293192"	"0"	"10"	"3"	"132415614"	"132415614"	"subst"	"0.000730941"	"02330"	"NPHP3_000026"	"g.132415614T>C"	""	""	""	"NPHP3(NM_153240.5):c.2132A>G (p.N711S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132696770T>C"	""	"benign"	""
"0000293193"	"0"	"50"	"3"	"132440967"	"132440967"	"subst"	"5.52017E-5"	"02330"	"NPHP3_000046"	"g.132440967C>A"	""	""	""	"NPHP3(NM_153240.5):c.233G>T (p.G78V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132722123C>A"	""	"VUS"	""
"0000293194"	"0"	"10"	"3"	"132407682"	"132407682"	"subst"	"1.22096E-5"	"02330"	"NPHP3_000016"	"g.132407682G>A"	""	""	""	"NPHP3(NM_153240.5):c.2937C>T (p.P979=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132688838G>A"	""	"benign"	""
"0000293195"	"0"	"50"	"3"	"132401603"	"132401603"	"subst"	"0.000690945"	"02330"	"NPHP3_000003"	"g.132401603G>C"	""	""	""	"NPHP3(NM_153240.4):c.3756C>G (p.S1252R), NPHP3(NM_153240.5):c.3756C>G (p.S1252R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132682759G>C"	""	"VUS"	""
"0000293196"	"0"	"30"	"3"	"132400806"	"132400806"	"subst"	"0.00153574"	"02330"	"NPHP3_000004"	"g.132400806C>G"	""	""	""	"NPHP3(NM_153240.4):c.3941G>C (p.S1314T, p.(Ser1314Thr)), NPHP3(NM_153240.5):c.3941G>C (p.S1314T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132681962C>G"	""	"likely benign"	""
"0000298749"	"0"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"02329"	"NPHP3_000020"	"g.132408108_132408109del"	""	""	""	"NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132689264_132689265del"	""	"pathogenic"	""
"0000300344"	"0"	"10"	"3"	"132441268"	"132441268"	"subst"	"0"	"02326"	"NPHP3_000049"	"g.132441268T>C"	""	""	""	"NPHP3(NM_153240.5):c.-69A>G, NPHP3-ACAD11(NR_037804.1):n.36A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132722424T>C"	""	"benign"	""
"0000300345"	"0"	"10"	"3"	"132441046"	"132441046"	"subst"	"0.0136813"	"02326"	"NPHP3_000001"	"g.132441046C>T"	""	""	""	"NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132722202C>T"	""	"benign"	""
"0000300346"	"0"	"10"	"3"	"132416206"	"132416206"	"subst"	"0.00321666"	"02326"	"NPHP3_000028"	"g.132416206C>T"	""	""	""	"NPHP3(NM_153240.5):c.1986G>A (p.R662=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132697362C>T"	""	"benign"	""
"0000300347"	"0"	"90"	"3"	"132407950"	"132407950"	"subst"	"1.62614E-5"	"02326"	"NPHP3_000017"	"g.132407950G>A"	""	""	""	"NPHP3(NM_153240.5):c.2851C>T (p.R951*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132689106G>A"	""	"pathogenic"	""
"0000300348"	"0"	"10"	"3"	"132401600"	"132401600"	"subst"	"0.160091"	"02326"	"NPHP3_000006"	"g.132401600C>T"	""	""	""	"NPHP3(NM_153240.4):c.3759G>A (p.L1253=), NPHP3(NM_153240.5):c.3759G>A (p.L1253=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132682756C>T"	""	"benign"	""
"0000300349"	"0"	"10"	"3"	"132400834"	"132400834"	"subst"	"0.00392107"	"02326"	"NPHP3_000005"	"g.132400834G>A"	""	""	""	"NPHP3(NM_153240.5):c.3913C>T (p.R1305C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132681990G>A"	""	"benign"	""
"0000300350"	"0"	"10"	"3"	"132438762"	"132438763"	"del"	"0"	"02326"	"NPHP3_000045"	"g.132438762_132438763del"	""	""	""	"NPHP3(NM_153240.5):c.394-75_394-74delAT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132719918_132719919del"	""	"benign"	""
"0000300351"	"0"	"30"	"3"	"132438619"	"132438619"	"subst"	"0.00161205"	"02326"	"NPHP3_000044"	"g.132438619G>A"	""	""	""	"NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132719775G>A"	""	"likely benign"	""
"0000300352"	"0"	"10"	"3"	"132436909"	"132436909"	"del"	"0"	"02326"	"NPHP3_000040"	"g.132436909del"	""	""	""	"NPHP3(NM_153240.5):c.670+936delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132718065del"	""	"benign"	""
"0000304438"	"0"	"50"	"3"	"132432079"	"132432079"	"subst"	"4.17707E-6"	"01943"	"NPHP3_000037"	"g.132432079G>A"	""	""	""	"NPHP3(NM_153240.4):c.1009C>T (p.H337Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132713235G>A"	""	"VUS"	""
"0000304439"	"0"	"30"	"3"	"132441095"	"132441095"	"subst"	"0.00163522"	"01943"	"NPHP3_000047"	"g.132441095C>T"	""	""	""	"NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132722251C>T"	""	"likely benign"	""
"0000304440"	"0"	"50"	"3"	"132427030"	"132427030"	"subst"	"0.000117801"	"01943"	"NPHP3_000036"	"g.132427030C>T"	""	""	""	"NPHP3(NM_153240.4):c.1190G>A (p.R397H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132708186C>T"	""	"VUS"	""
"0000304442"	"0"	"30"	"3"	"132441046"	"132441046"	"subst"	"0.0136813"	"01943"	"NPHP3_000001"	"g.132441046C>T"	""	""	""	"NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132722202C>T"	""	"likely benign"	""
"0000304443"	"0"	"30"	"3"	"132418756"	"132418756"	"subst"	"0.00153636"	"01943"	"NPHP3_000029"	"g.132418756C>T"	""	""	""	"NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132699912C>T"	""	"likely benign"	""
"0000304444"	"0"	"30"	"3"	"132415666"	"132415666"	"subst"	"0.00438418"	"01943"	"NPHP3_000027"	"g.132415666G>A"	""	""	""	"NPHP3(NM_153240.4):c.2089-9C>T, NPHP3(NM_153240.5):c.2089-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132696822G>A"	""	"likely benign"	""
"0000304445"	"0"	"30"	"3"	"132410062"	"132410062"	"subst"	"0"	"01943"	"NPHP3_000024"	"g.132410062T>G"	""	""	""	"NPHP3(NM_153240.4):c.2544A>C (p.L848=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132691218T>G"	""	"likely benign"	""
"0000304446"	"0"	"30"	"3"	"132409458"	"132409458"	"subst"	"0"	"01943"	"NPHP3_000022"	"g.132409458G>A"	""	""	""	"NPHP3(NM_153240.4):c.2607C>T (p.L869=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132690614G>A"	""	"likely benign"	""
"0000304447"	"0"	"10"	"3"	"132409355"	"132409355"	"subst"	"0.00246474"	"01943"	"NPHP3_000021"	"g.132409355T>C"	""	""	""	"NPHP3(NM_153240.4):c.2693+17A>G, NPHP3(NM_153240.5):c.2693+17A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132690511T>C"	""	"benign"	""
"0000304448"	"0"	"30"	"3"	"132408032"	"132408032"	"subst"	"0.000796172"	"01943"	"NPHP3_000019"	"g.132408032G>A"	""	""	""	"NPHP3(NM_153240.4):c.2769C>T (p.F923=), NPHP3(NM_153240.5):c.2769C>T (p.F923=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132689188G>A"	""	"likely benign"	""
"0000304449"	"0"	"50"	"3"	"132407992"	"132407992"	"subst"	"4.06296E-6"	"01943"	"NPHP3_000018"	"g.132407992C>A"	""	""	""	"NPHP3(NM_153240.4):c.2809G>T (p.D937Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132689148C>A"	""	"VUS"	""
"0000304450"	"0"	"50"	"3"	"132407633"	"132407633"	"subst"	"0.000138287"	"01943"	"NPHP3_000015"	"g.132407633C>T"	""	""	""	"NPHP3(NM_153240.4):c.2986G>A (p.V996M, p.(Val996Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132688789C>T"	""	"VUS"	""
"0000304452"	"0"	"50"	"3"	"132405212"	"132405212"	"subst"	"0.000548263"	"01943"	"NPHP3_000012"	"g.132405212C>T"	""	""	""	"NPHP3(NM_153240.4):c.3221G>A (p.R1074H, p.(Arg1074His)), NPHP3(NM_153240.5):c.3221G>A (p.R1074H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132686368C>T"	""	"VUS"	""
"0000304453"	"0"	"50"	"3"	"132405204"	"132405204"	"subst"	"4.06105E-6"	"01943"	"NPHP3_000011"	"g.132405204C>T"	""	""	""	"NPHP3(NM_153240.4):c.3229G>A (p.A1077T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132686360C>T"	""	"VUS"	""
"0000304454"	"0"	"30"	"3"	"132405181"	"132405181"	"subst"	"0.00149037"	"01943"	"NPHP3_000010"	"g.132405181T>C"	""	""	""	"NPHP3(NM_153240.4):c.3252A>G (p.T1084=), NPHP3(NM_153240.5):c.3252A>G (p.T1084=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132686337T>C"	""	"likely benign"	""
"0000304455"	"0"	"50"	"3"	"132403464"	"132403464"	"subst"	"0.000195112"	"01943"	"NPHP3_000008"	"g.132403464T>C"	""	""	""	"NPHP3(NM_153240.4):c.3504A>G (p.A1168=), NPHP3(NM_153240.5):c.3504A>G (p.A1168=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132684620T>C"	""	"VUS"	""
"0000304456"	"0"	"50"	"3"	"132401603"	"132401603"	"subst"	"0.000690945"	"01943"	"NPHP3_000003"	"g.132401603G>C"	""	""	""	"NPHP3(NM_153240.4):c.3756C>G (p.S1252R), NPHP3(NM_153240.5):c.3756C>G (p.S1252R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132682759G>C"	""	"VUS"	""
"0000304457"	"0"	"10"	"3"	"132401600"	"132401600"	"subst"	"0.160091"	"01943"	"NPHP3_000006"	"g.132401600C>T"	""	""	""	"NPHP3(NM_153240.4):c.3759G>A (p.L1253=), NPHP3(NM_153240.5):c.3759G>A (p.L1253=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132682756C>T"	""	"benign"	""
"0000304458"	"0"	"30"	"3"	"132400806"	"132400806"	"subst"	"0.00153574"	"01943"	"NPHP3_000004"	"g.132400806C>G"	""	""	""	"NPHP3(NM_153240.4):c.3941G>C (p.S1314T, p.(Ser1314Thr)), NPHP3(NM_153240.5):c.3941G>C (p.S1314T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132681962C>G"	""	"likely benign"	""
"0000304459"	"0"	"30"	"3"	"132438619"	"132438619"	"subst"	"0.00161205"	"01943"	"NPHP3_000044"	"g.132438619G>A"	""	""	""	"NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132719775G>A"	""	"likely benign"	""
"0000304460"	"0"	"10"	"3"	"132438618"	"132438618"	"subst"	"0.00335888"	"01943"	"NPHP3_000043"	"g.132438618C>T"	""	""	""	"NPHP3(NM_153240.4):c.450G>A (p.A150=), NPHP3(NM_153240.5):c.450G>A (p.A150=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132719774C>T"	""	"benign"	""
"0000304461"	"0"	"30"	"3"	"132437887"	"132437887"	"subst"	"2.8428E-5"	"01943"	"NPHP3_000042"	"g.132437887T>C"	""	""	""	"NPHP3(NM_153240.4):c.621A>G (p.V207=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132719043T>C"	""	"likely benign"	""
"0000329606"	"0"	"50"	"3"	"132338334"	"132338334"	"subst"	"0.00124624"	"01804"	"ACAD11_000001"	"g.132338334G>C"	""	""	""	"ACAD11(NM_032169.4):c.1253C>G (p.(Pro418Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132619490G>C"	""	"VUS"	""
"0000329607"	"0"	"50"	"3"	"132405152"	"132405152"	"subst"	"0.000491379"	"01804"	"NPHP3_000009"	"g.132405152C>T"	""	""	""	"NPHP3(NM_153240.5):c.3281G>A (p.(Arg1094Gln), p.R1094Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132686308C>T"	""	"VUS"	""
"0000329608"	"0"	"30"	"3"	"132405212"	"132405212"	"subst"	"0.000548263"	"01804"	"NPHP3_000012"	"g.132405212C>T"	""	""	""	"NPHP3(NM_153240.4):c.3221G>A (p.R1074H, p.(Arg1074His)), NPHP3(NM_153240.5):c.3221G>A (p.R1074H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132686368C>T"	""	"likely benign"	""
"0000329611"	"0"	"50"	"3"	"132418855"	"132418855"	"subst"	"8.12275E-6"	"01804"	"NPHP3_000031"	"g.132418855C>G"	""	""	""	"NPHP3(NM_153240.4):c.1794G>C (p.(Lys598Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132700011C>G"	""	"VUS"	""
"0000337140"	"0"	"90"	"3"	"132401545"	"132401545"	"dup"	"0"	"02327"	"NPHP3_000051"	"g.132401545dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132682701dup"	""	"pathogenic"	""
"0000339397"	"0"	"10"	"3"	"132405181"	"132405181"	"subst"	"0.00149037"	"02327"	"NPHP3_000010"	"g.132405181T>C"	""	""	""	"NPHP3(NM_153240.4):c.3252A>G (p.T1084=), NPHP3(NM_153240.5):c.3252A>G (p.T1084=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132686337T>C"	""	"benign"	""
"0000340831"	"0"	"10"	"3"	"132401600"	"132401600"	"subst"	"0.160091"	"02327"	"NPHP3_000006"	"g.132401600C>T"	""	""	""	"NPHP3(NM_153240.4):c.3759G>A (p.L1253=), NPHP3(NM_153240.5):c.3759G>A (p.L1253=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132682756C>T"	""	"benign"	""
"0000344507"	"0"	"90"	"3"	"132403562"	"132403562"	"subst"	"0"	"02327"	"NPHP3_000053"	"g.132403562G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132684718G>A"	""	"pathogenic"	""
"0000344541"	"0"	"50"	"3"	"132400762"	"132400762"	"subst"	"0"	"02327"	"NPHP3_000050"	"g.132400762G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132681918G>T"	""	"VUS"	""
"0000348147"	"0"	"50"	"3"	"132403447"	"132403447"	"subst"	"0"	"02327"	"NPHP3_000052"	"g.132403447G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132684603G>A"	""	"VUS"	""
"0000349202"	"0"	"50"	"3"	"132409390"	"132409390"	"subst"	"0"	"02327"	"NPHP3_000055"	"g.132409390G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132690546G>A"	""	"VUS"	""
"0000349663"	"0"	"50"	"3"	"132407696"	"132407696"	"subst"	"0"	"02327"	"NPHP3_000054"	"g.132407696T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132688852T>C"	""	"VUS"	""
"0000350887"	"0"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"02327"	"NPHP3_000020"	"g.132408108_132408109del"	""	""	""	"NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.132689264_132689265del"	""	"pathogenic"	""
"0000368548"	"11"	"90"	"3"	"132415592"	"132415592"	"subst"	"8.12196E-6"	"02473"	"NPHP3_000056"	"g.132415592G>A"	""	""	""	""	"This change is 18 base pairs from the exon-intron boundary within exon 15 of NPHP3. mRNA isolated from whole blood from patients and controls both showed alternative splicing of exon 15. Control kidney mRNA showed normal splicing of exon 15. Human kidney mRNA from the patient’s father confirmed evidence of a heterozygous alternate splicing of exon 15 of NPHP3."	"Germline"	"-"	"rs558637226"	"0"	""	""	"g.132696748G>A"	""	"pathogenic"	""
"0000368549"	"21"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"02473"	"NPHP3_000020"	"g.132408108_132408109del"	""	""	""	"2694-2_2694-1delAG"	""	"Germline"	"-"	""	"0"	""	""	"g.132689264_132689265del"	""	"pathogenic"	""
"0000368550"	"11"	"90"	"3"	"132415592"	"132415592"	"subst"	"8.12196E-6"	"02473"	"NPHP3_000056"	"g.132415592G>A"	""	""	""	""	"The NPHP3 c.2154C>T variant is near an exon-intron boundary (exon15-intron 15) and therefore may have been implicated in abnormal splicing of exon 15 of NPHP3."	"Germline"	"-"	""	"0"	""	""	"g.132696748G>A"	""	"pathogenic"	""
"0000368551"	"21"	"90"	"3"	"132407618"	"132407618"	"del"	"0"	"02473"	"NPHP3_000057"	"g.132407618del"	""	""	""	"3003delT"	""	"Germline"	"-"	""	"0"	""	""	"g.132688774del"	""	"pathogenic"	""
"0000369404"	"0"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"02473"	"NPHP3_000020"	"g.132408108_132408109del"	""	""	""	"2694-2_2694-1delAG"	""	"Germline"	"yes"	""	"0"	""	""	"g.132689264_132689265del"	""	"pathogenic"	""
"0000369405"	"11"	"90"	"3"	"132415592"	"132415592"	"subst"	"8.12196E-6"	"02473"	"NPHP3_000056"	"g.132415592G>A"	""	""	""	""	"This change is 18 base pairs from the exon-intron boundary within exon 15 of NPHP3. mRNA isolated from whole blood from patients and controls both showed alternative splicing of exon 15. Control kidney mRNA showed normal splicing of exon 15. Human kidney mRNA from the patient’s father confirmed evidence of a heterozygous alternate splicing of exon 15 of NPHP3. Sibling ID 00164068 has same phenotype and genotype."	"Germline"	"yes"	"rs558637226"	"0"	""	""	"g.132696748G>A"	""	"pathogenic"	""
"0000517944"	"0"	"50"	"3"	"132379401"	"132379401"	"subst"	"0.000318571"	"01943"	"ACAD11_000002"	"g.132379401G>A"	""	""	""	"UBA5(NM_024818.4):c.20G>A (p.R7H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132660557G>A"	""	"VUS"	""
"0000517945"	"0"	"50"	"3"	"132379503"	"132379503"	"subst"	"5.50285E-6"	"01943"	"ACAD11_000003"	"g.132379503A>G"	""	""	""	"UBA5(NM_024818.4):c.122A>G (p.E41G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132660659A>G"	""	"VUS"	""
"0000517946"	"0"	"30"	"3"	"132379880"	"132379880"	"subst"	"0.000293092"	"02326"	"ACAD11_000004"	"g.132379880T>A"	""	""	""	"UBA5(NM_001321238.1):c.15T>A (p.I5=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132661036T>A"	""	"likely benign"	""
"0000517947"	"0"	"30"	"3"	"132384704"	"132384704"	"subst"	"0.000182955"	"01943"	"ACAD11_000005"	"g.132384704G>A"	""	""	""	"UBA5(NM_024818.4):c.199G>A (p.D67N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132665860G>A"	""	"likely benign"	""
"0000517948"	"0"	"30"	"3"	"132394218"	"132394218"	"subst"	"0.00032555"	"02326"	"ACAD11_000006"	"g.132394218G>A"	""	""	""	"UBA5(NM_024818.5):c.939G>A (p.E313=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132675374G>A"	""	"likely benign"	""
"0000517949"	"0"	"90"	"3"	"132394747"	"132394747"	"subst"	"0.00189745"	"01804"	"UBA5_000014"	"g.132394747G>A"	""	""	""	"UBA5(NM_024818.3):c.1111G>A (p.(Ala371Thr)), UBA5(NM_024818.4):c.1111G>A (p.A371T), UBA5(NM_024818.5):c.1111G>A (p.A371T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132675903G>A"	""	"pathogenic"	""
"0000517951"	"0"	"30"	"3"	"132400806"	"132400806"	"subst"	"0.00153574"	"01804"	"NPHP3_000004"	"g.132400806C>G"	""	""	""	"NPHP3(NM_153240.4):c.3941G>C (p.S1314T, p.(Ser1314Thr)), NPHP3(NM_153240.5):c.3941G>C (p.S1314T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132681962C>G"	""	"likely benign"	""
"0000517952"	"0"	"50"	"3"	"132402277"	"132402277"	"subst"	"0.000272298"	"02325"	"ACAD11_000008"	"g.132402277G>A"	""	""	""	"NPHP3(NM_153240.5):c.3662C>T (p.A1221V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132683433G>A"	""	"VUS"	""
"0000517953"	"0"	"50"	"3"	"132403418"	"132403418"	"subst"	"0.00835796"	"01943"	"ACAD11_000009"	"g.132403418C>T"	""	""	""	"NPHP3(NM_153240.4):c.3550G>A (p.A1184T, p.(Ala1184Thr)), NPHP3(NM_153240.5):c.3550G>A (p.A1184T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132684574C>T"	""	"VUS"	""
"0000517954"	"0"	"30"	"3"	"132403418"	"132403418"	"subst"	"0.00835796"	"01804"	"ACAD11_000009"	"g.132403418C>T"	""	""	""	"NPHP3(NM_153240.4):c.3550G>A (p.A1184T, p.(Ala1184Thr)), NPHP3(NM_153240.5):c.3550G>A (p.A1184T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132684574C>T"	""	"likely benign"	""
"0000517955"	"0"	"10"	"3"	"132403418"	"132403418"	"subst"	"0.00835796"	"02326"	"ACAD11_000009"	"g.132403418C>T"	""	""	""	"NPHP3(NM_153240.4):c.3550G>A (p.A1184T, p.(Ala1184Thr)), NPHP3(NM_153240.5):c.3550G>A (p.A1184T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132684574C>T"	""	"benign"	""
"0000517957"	"0"	"10"	"3"	"132405181"	"132405181"	"subst"	"0.00149037"	"02330"	"NPHP3_000010"	"g.132405181T>C"	""	""	""	"NPHP3(NM_153240.4):c.3252A>G (p.T1084=), NPHP3(NM_153240.5):c.3252A>G (p.T1084=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132686337T>C"	""	"benign"	""
"0000517958"	"0"	"10"	"3"	"132407487"	"132407487"	"dup"	"0"	"01943"	"ACAD11_000011"	"g.132407487dup"	""	""	""	"NPHP3(NM_153240.4):c.3125+12dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132688643dup"	""	"benign"	""
"0000517959"	"0"	"50"	"3"	"132407725"	"132407725"	"subst"	"1.21984E-5"	"01943"	"ACAD11_000012"	"g.132407725G>A"	""	""	""	"NPHP3(NM_153240.4):c.2894C>T (p.P965L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132688881G>A"	""	"VUS"	""
"0000517960"	"0"	"30"	"3"	"132407920"	"132407920"	"subst"	"0.000284692"	"02330"	"ACAD11_000013"	"g.132407920G>C"	""	""	""	"NPHP3(NM_153240.5):c.2881C>G (p.Q961E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132689076G>C"	""	"likely benign"	""
"0000517962"	"0"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"01943"	"NPHP3_000020"	"g.132408108_132408109del"	""	""	""	"NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132689264_132689265del"	""	"pathogenic"	""
"0000517963"	"0"	"10"	"3"	"132409355"	"132409355"	"subst"	"0.00246474"	"02330"	"NPHP3_000021"	"g.132409355T>C"	""	""	""	"NPHP3(NM_153240.4):c.2693+17A>G, NPHP3(NM_153240.5):c.2693+17A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132690511T>C"	""	"benign"	""
"0000517964"	"0"	"10"	"3"	"132409455"	"132409455"	"subst"	"0.027892"	"01943"	"ACAD11_000014"	"g.132409455C>T"	""	""	""	"NPHP3(NM_153240.4):c.2610G>A (p.P870=), NPHP3(NM_153240.5):c.2610G>A (p.(Pro870=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132690611C>T"	""	"benign"	""
"0000517965"	"0"	"10"	"3"	"132409501"	"132409501"	"subst"	"0.0304515"	"01804"	"NPHP3_000023"	"g.132409501A>G"	""	""	""	"NPHP3(NM_153240.4):c.2571-7T>C, NPHP3(NM_153240.5):c.2571-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132690657A>G"	""	"benign"	""
"0000517967"	"0"	"50"	"3"	"132413671"	"132413671"	"subst"	"0"	"01943"	"ACAD11_000016"	"g.132413671C>T"	""	""	""	"NPHP3(NM_153240.4):c.2310G>A (p.Q770=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132694827C>T"	""	"VUS"	""
"0000517969"	"0"	"50"	"3"	"132415578"	"132415578"	"subst"	"1.21824E-5"	"02330"	"ACAD11_000018"	"g.132415578G>A"	""	""	""	"NPHP3(NM_153240.5):c.2168C>T (p.A723V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132696734G>A"	""	"VUS"	""
"0000517970"	"0"	"90"	"3"	"132415642"	"132415642"	"subst"	"4.06207E-5"	"02325"	"ACAD11_000019"	"g.132415642G>A"	""	""	""	"NPHP3(NM_153240.4):c.2104C>T (p.R702*), NPHP3(NM_153240.5):c.2104C>T (p.R702*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132696798G>A"	""	"pathogenic"	""
"0000517971"	"0"	"50"	"3"	"132418279"	"132418279"	"subst"	"2.46069E-5"	"02330"	"ACAD11_000020"	"g.132418279T>C"	""	""	""	"NPHP3(NM_153240.4):c.1903A>G (p.M635V), NPHP3(NM_153240.5):c.1903A>G (p.M635V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132699435T>C"	""	"VUS"	""
"0000517972"	"0"	"50"	"3"	"132418279"	"132418279"	"subst"	"2.46069E-5"	"01943"	"ACAD11_000020"	"g.132418279T>C"	""	""	""	"NPHP3(NM_153240.4):c.1903A>G (p.M635V), NPHP3(NM_153240.5):c.1903A>G (p.M635V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132699435T>C"	""	"VUS"	""
"0000517973"	"0"	"30"	"3"	"132418756"	"132418756"	"subst"	"0.00153636"	"01804"	"NPHP3_000029"	"g.132418756C>T"	""	""	""	"NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132699912C>T"	""	"likely benign"	""
"0000517974"	"0"	"50"	"3"	"132418796"	"132418796"	"subst"	"0.00069049"	"01943"	"ACAD11_000021"	"g.132418796A>G"	""	""	""	"NPHP3(NM_153240.4):c.1853T>C (p.I618T), NPHP3(NM_153240.5):c.1853T>C (p.I618T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132699952A>G"	""	"VUS"	""
"0000517975"	"0"	"30"	"3"	"132420390"	"132420390"	"dup"	"0"	"01943"	"ACAD11_000022"	"g.132420390dup"	""	""	""	"NPHP3(NM_153240.4):c.1525-5dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132701546dup"	""	"likely benign"	""
"0000517976"	"0"	"70"	"3"	"132423129"	"132423129"	"subst"	"0"	"01804"	"ACAD11_000023"	"g.132423129A>C"	""	""	""	"NPHP3(NM_153240.4):c.1437T>G (p.(Asp479Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132704285A>C"	""	"likely pathogenic"	""
"0000517977"	"0"	"30"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"02330"	"ACAD11_000024"	"g.132427031G>A"	""	""	""	"NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132708187G>A"	""	"likely benign"	""
"0000517978"	"0"	"50"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"01943"	"ACAD11_000024"	"g.132427031G>A"	""	""	""	"NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132708187G>A"	""	"VUS"	""
"0000517979"	"0"	"30"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"01804"	"ACAD11_000024"	"g.132427031G>A"	""	""	""	"NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132708187G>A"	""	"likely benign"	""
"0000517980"	"0"	"10"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"02326"	"ACAD11_000024"	"g.132427031G>A"	""	""	""	"NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132708187G>A"	""	"benign"	""
"0000517981"	"0"	"30"	"3"	"132427063"	"132427063"	"subst"	"0.00187292"	"02330"	"ACAD11_000025"	"g.132427063T>C"	""	""	""	"NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132708219T>C"	""	"likely benign"	""
"0000517982"	"0"	"50"	"3"	"132427063"	"132427063"	"subst"	"0.00187292"	"01943"	"ACAD11_000025"	"g.132427063T>C"	""	""	""	"NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132708219T>C"	""	"VUS"	""
"0000517984"	"0"	"30"	"3"	"132427063"	"132427063"	"subst"	"0.00187292"	"02325"	"ACAD11_000025"	"g.132427063T>C"	""	""	""	"NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132708219T>C"	""	"likely benign"	""
"0000517985"	"0"	"30"	"3"	"132427063"	"132427063"	"subst"	"0.00187292"	"02326"	"ACAD11_000025"	"g.132427063T>C"	""	""	""	"NPHP3(NM_153240.4):c.1157A>G (p.N386S), NPHP3(NM_153240.5):c.1157A>G (p.N386S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132708219T>C"	""	"likely benign"	""
"0000517986"	"0"	"10"	"3"	"132431961"	"132431961"	"dup"	"0"	"02330"	"ACAD11_000026"	"g.132431961dup"	""	""	""	"NPHP3(NM_153240.5):c.1118+16dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132713117dup"	""	"benign"	""
"0000517987"	"0"	"70"	"3"	"132431973"	"132431973"	"subst"	"0"	"02325"	"ACAD11_000027"	"g.132431973G>A"	""	""	""	"NPHP3(NM_153240.5):c.1115C>T (p.P372L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132713129G>A"	""	"likely pathogenic"	""
"0000517988"	"0"	"90"	"3"	"132432016"	"132432016"	"subst"	"0"	"02327"	"ACAD11_000028"	"g.132432016C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132713172C>A"	""	"pathogenic"	""
"0000517989"	"0"	"90"	"3"	"132437960"	"132437967"	"dup"	"0"	"02325"	"ACAD11_000029"	"g.132437960_132437967dup"	""	""	""	"NPHP3(NM_153240.5):c.541_548dupAATGAAAT (p.Q184Mfs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132719116_132719123dup"	""	"pathogenic"	""
"0000517990"	"0"	"10"	"3"	"132437998"	"132437998"	"subst"	"0.000736307"	"02330"	"ACAD11_000030"	"g.132437998G>C"	""	""	""	"NPHP3(NM_153240.5):c.520-10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132719154G>C"	""	"benign"	""
"0000517991"	"0"	"10"	"3"	"132440789"	"132440789"	"subst"	"0.000143015"	"02330"	"ACAD11_000031"	"g.132440789G>A"	""	""	""	"NPHP3(NM_153240.5):c.393+18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132721945G>A"	""	"benign"	""
"0000517992"	"0"	"30"	"3"	"132441046"	"132441046"	"subst"	"0.0136813"	"01804"	"NPHP3_000001"	"g.132441046C>T"	""	""	""	"NPHP3(NM_153240.4):c.154G>A (p.A52T, p.(Ala52Thr)), NPHP3(NM_153240.5):c.154G>A (p.A52T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132722202C>T"	""	"likely benign"	""
"0000517993"	"0"	"10"	"3"	"132441095"	"132441095"	"subst"	"0.00163522"	"02326"	"NPHP3_000047"	"g.132441095C>T"	""	""	""	"NPHP3(NM_153240.4):c.105G>A (p.K35=), NPHP3(NM_153240.5):c.105G>A (p.K35=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132722251C>T"	""	"benign"	""
"0000517994"	"0"	"30"	"3"	"132441143"	"132441143"	"subst"	"0.0158218"	"01943"	"ACAD11_000032"	"g.132441143C>G"	""	""	""	"NPHP3(NM_153240.4):c.57G>C (p.T19=), NPHP3(NM_153240.5):c.57G>C (p.(Thr19=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132722299C>G"	""	"likely benign"	""
"0000608330"	"0"	"90"	"3"	"132401662"	"132401662"	"dup"	"0"	"02327"	"ACAD11_000035"	"g.132401662dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132682818dup"	""	"pathogenic"	""
"0000608331"	"0"	"50"	"3"	"132402290"	"132402290"	"subst"	"3.25116E-5"	"02325"	"ACAD11_000036"	"g.132402290T>G"	""	""	""	"NPHP3(NM_153240.5):c.3649A>C (p.(Ser1217Arg), p.S1217R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132683446T>G"	""	"VUS"	""
"0000608332"	"0"	"30"	"3"	"132408098"	"132408098"	"subst"	"0"	"02330"	"ACAD11_000037"	"g.132408098A>G"	""	""	""	"NPHP3(NM_153240.5):c.2703T>C (p.F901=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132689254A>G"	""	"likely benign"	""
"0000621181"	"0"	"50"	"3"	"132384687"	"132384687"	"subst"	"3.25235E-5"	"01943"	"ACAD11_000033"	"g.132384687G>A"	""	""	""	"UBA5(NM_024818.4):c.182G>A (p.R61Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132665843G>A"	""	"VUS"	""
"0000621182"	"0"	"30"	"3"	"132394221"	"132394221"	"subst"	"4.88472E-5"	"01943"	"ACAD11_000034"	"g.132394221A>T"	""	""	""	"UBA5(NM_024818.4):c.942A>T (p.E314D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132675377A>T"	""	"likely benign"	""
"0000646863"	"3"	"90"	"3"	"132403520"	"132403520"	"subst"	"0"	"03601"	"NPHP3_000058"	"g.132403520G>A"	""	"{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.132684676G>A"	""	"pathogenic (recessive)"	""
"0000646864"	"3"	"90"	"3"	"132410077"	"132410077"	"del"	"0"	"03601"	"NPHP3_000059"	"g.132410077del"	""	"{PMID:Al Alawi 2019:31844813}, {DOI:Al Alawi 2019:10.1016/j.ekir.2019.08.012}"	""	"2529delA"	""	"Germline"	"yes"	""	"0"	""	""	"g.132691233del"	""	"pathogenic"	""
"0000651072"	"1"	"50"	"3"	"132403418"	"132403418"	"subst"	"0.00835796"	"03575"	"ACAD11_000009"	"g.132403418C>T"	"60/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 60 heterozygous, no homozygous; {DB:CLININrs34391943}"	"Germline"	""	"rs34391943"	"0"	""	""	"g.132684574C>T"	""	"VUS"	""
"0000651073"	"1"	"30"	"3"	"132409455"	"132409455"	"subst"	"0.027892"	"03575"	"ACAD11_000014"	"g.132409455C>T"	"236/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"236 heterozygous; {DB:CLININrs16839515}"	"Germline"	""	"rs16839515"	"0"	""	""	"g.132690611C>T"	""	"likely benign"	""
"0000651074"	"1"	"50"	"3"	"132418796"	"132418796"	"subst"	"0.00069049"	"03575"	"ACAD11_000021"	"g.132418796A>G"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs139730838}"	"Germline"	""	"rs139730838"	"0"	""	""	"g.132699952A>G"	""	"VUS"	""
"0000651075"	"1"	"90"	"3"	"132419192"	"132419192"	"subst"	"8.12671E-6"	"03575"	"NPHP3_000060"	"g.132419192G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs119456962}"	"Germline"	""	"rs119456962"	"0"	""	""	"g.132700348G>A"	""	"pathogenic"	""
"0000651076"	"1"	"50"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"03575"	"ACAD11_000024"	"g.132427031G>A"	"2/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs141477666}"	"Germline"	""	"rs141477666"	"0"	""	""	"g.132708187G>A"	""	"VUS"	""
"0000651077"	"1"	"30"	"3"	"132438619"	"132438619"	"subst"	"0.00161205"	"03575"	"NPHP3_000044"	"g.132438619G>A"	"24/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"24 heterozygous, no homozygous; {DB:CLININrs142663818}"	"Germline"	""	"rs142663818"	"0"	""	""	"g.132719775G>A"	""	"likely benign"	""
"0000651078"	"1"	"90"	"3"	"132440927"	"132440927"	"del"	"4.15849E-6"	"03575"	"NPHP3_000061"	"g.132440927del"	"6/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 heterozygous, no homozygous; {DB:CLININrs758558609}"	"Germline"	""	"rs758558609"	"0"	""	""	"g.132722083del"	""	"pathogenic"	""
"0000654805"	"0"	"30"	"3"	"132400806"	"132400806"	"subst"	"0.00153574"	"02326"	"NPHP3_000004"	"g.132400806C>G"	""	""	""	"NPHP3(NM_153240.4):c.3941G>C (p.S1314T, p.(Ser1314Thr)), NPHP3(NM_153240.5):c.3941G>C (p.S1314T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132681962C>G"	""	"likely benign"	""
"0000654806"	"0"	"30"	"3"	"132419309"	"132419309"	"subst"	"0.000691056"	"02330"	"ACAD11_000038"	"g.132419309G>T"	""	""	""	"NPHP3(NM_153240.5):c.1629-17C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.132700465G>T"	""	"likely benign"	""
"0000663570"	"1"	"50"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"00006"	"ACAD11_000024"	"g.132427031G>A"	""	"{PMID:Arno 2017:28132693}"	""	""	"heterozygous variant only, does not fit phenotype"	"Germline"	""	""	"0"	""	""	"g.132708187G>A"	""	"VUS"	""
"0000669742"	"3"	"30"	"3"	"132409455"	"132409455"	"subst"	"0.027892"	"03575"	"ACAD11_000014"	"g.132409455C>T"	"9/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"9 homozygous; {DB:CLININrs16839515}"	"Germline"	""	"rs16839515"	"0"	""	""	"g.132690611C>T"	""	"likely benign"	""
"0000676826"	"0"	"90"	"3"	"132394747"	"132394747"	"subst"	"0.00189745"	"01943"	"UBA5_000014"	"g.132394747G>A"	""	""	""	"UBA5(NM_024818.3):c.1111G>A (p.(Ala371Thr)), UBA5(NM_024818.4):c.1111G>A (p.A371T), UBA5(NM_024818.5):c.1111G>A (p.A371T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000676827"	"0"	"30"	"3"	"132402275"	"132402275"	"subst"	"0.000247907"	"02326"	"ACAD11_000039"	"g.132402275A>G"	""	""	""	"NPHP3(NM_153240.5):c.3664T>C (p.L1222=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676828"	"0"	"90"	"3"	"132415642"	"132415642"	"subst"	"4.06207E-5"	"01943"	"ACAD11_000019"	"g.132415642G>A"	""	""	""	"NPHP3(NM_153240.4):c.2104C>T (p.R702*), NPHP3(NM_153240.5):c.2104C>T (p.R702*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000676829"	"0"	"50"	"3"	"132418279"	"132418279"	"subst"	"2.46069E-5"	"02325"	"ACAD11_000020"	"g.132418279T>C"	""	""	""	"NPHP3(NM_153240.4):c.1903A>G (p.M635V), NPHP3(NM_153240.5):c.1903A>G (p.M635V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000676830"	"0"	"50"	"3"	"132434023"	"132434023"	"subst"	"0"	"01943"	"ACAD11_000040"	"g.132434023G>A"	""	""	""	"NPHP3(NM_153240.4):c.863C>T (p.T288I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688943"	"0"	"50"	"3"	"132406059"	"132406059"	"subst"	"1.26789E-5"	"01943"	"ACAD11_000041"	"g.132406059G>C"	""	""	""	"NPHP3(NM_153240.4):c.3137C>G (p.A1046G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688944"	"0"	"10"	"3"	"132408032"	"132408032"	"subst"	"0.000796172"	"02326"	"NPHP3_000019"	"g.132408032G>A"	""	""	""	"NPHP3(NM_153240.4):c.2769C>T (p.F923=), NPHP3(NM_153240.5):c.2769C>T (p.F923=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000688945"	"0"	"50"	"3"	"132416206"	"132416206"	"subst"	"0"	"02325"	"ACAD11_000042"	"g.132416206C>A"	""	""	""	"NPHP3(NM_153240.5):c.1986G>T (p.R662S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719190"	"0"	"50"	"3"	"132403469"	"132403469"	"subst"	"2.43908E-5"	"01943"	"ACAD11_000044"	"g.132403469G>A"	""	""	""	"NPHP3(NM_153240.4):c.3499C>T (p.R1167C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719191"	"0"	"30"	"3"	"132403657"	"132403657"	"subst"	"3.71033E-5"	"02326"	"ACAD11_000045"	"g.132403657A>G"	""	""	""	"NPHP3(NM_153240.5):c.3330-19T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719192"	"0"	"30"	"3"	"132405212"	"132405212"	"subst"	"0.000548263"	"02326"	"NPHP3_000012"	"g.132405212C>T"	""	""	""	"NPHP3(NM_153240.4):c.3221G>A (p.R1074H, p.(Arg1074His)), NPHP3(NM_153240.5):c.3221G>A (p.R1074H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719193"	"0"	"50"	"3"	"132407624"	"132407624"	"subst"	"0.000126054"	"01943"	"ACAD11_000046"	"g.132407624T>C"	""	""	""	"NPHP3(NM_153240.4):c.2995A>G (p.K999E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000719194"	"0"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"02325"	"NPHP3_000020"	"g.132408108_132408109del"	""	""	""	"NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000719195"	"0"	"10"	"3"	"132409355"	"132409355"	"subst"	"0.00246474"	"02326"	"NPHP3_000021"	"g.132409355T>C"	""	""	""	"NPHP3(NM_153240.4):c.2693+17A>G, NPHP3(NM_153240.5):c.2693+17A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000719196"	"0"	"30"	"3"	"132411531"	"132411531"	"subst"	"0.000150303"	"01943"	"ACAD11_000047"	"g.132411531A>G"	""	""	""	"NPHP3(NM_153240.4):c.2442T>C (p.Y814=), NPHP3(NM_153240.5):c.2442T>C (p.Y814=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719197"	"0"	"30"	"3"	"132415577"	"132415577"	"subst"	"0.000101519"	"01943"	"ACAD11_000048"	"g.132415577C>T"	""	""	""	"NPHP3(NM_153240.4):c.2169G>A (p.A723=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719198"	"0"	"30"	"3"	"132416213"	"132416213"	"subst"	"2.47756E-5"	"01943"	"ACAD11_000049"	"g.132416213T>C"	""	""	""	"NPHP3(NM_153240.4):c.1986-7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719199"	"0"	"30"	"3"	"132418913"	"132418913"	"subst"	"1.21879E-5"	"01943"	"ACAD11_000050"	"g.132418913A>G"	""	""	""	"NPHP3(NM_153240.4):c.1744-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000719200"	"0"	"30"	"3"	"132440816"	"132440816"	"subst"	"5.366E-5"	"01943"	"ACAD11_000051"	"g.132440816G>C"	""	""	""	"NPHP3(NM_153240.4):c.384C>G (p.A128=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000760027"	"0"	"50"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"00000"	"ACAD11_000024"	"g.132427031G>A"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132708187G>A"	""	"VUS"	""
"0000791999"	"0"	"90"	"3"	"132403546"	"132403546"	"subst"	"4.06699E-6"	"00000"	"NPHP3_000063"	"g.132403546A>G"	""	"{PMID:Otto 2011:21068128}"	""	"c.3422T/C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000792199"	"3"	"50"	"3"	"132401657"	"132401657"	"del"	"0"	"00000"	"NPHP3_000062"	"g.132401657delT"	""	"{PMID:Chaki 2011:21422230}"	""	"c.3702delA"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000792200"	"3"	"50"	"3"	"132401657"	"132401657"	"del"	"0"	"00000"	"NPHP3_000062"	"g.132401657delT"	""	"{PMID:Chaki 2011:21422230}"	""	"p.3235C>T (p.Q1079X)"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000800990"	"0"	"50"	"3"	"132394142"	"132394142"	"subst"	"1.62596E-5"	"01943"	"ACAD11_000052"	"g.132394142T>C"	""	""	""	"UBA5(NM_024818.4):c.863T>C (p.M288T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800991"	"0"	"70"	"3"	"132394174"	"132394174"	"subst"	"1.62631E-5"	"02329"	"ACAD11_000053"	"g.132394174C>T"	""	""	""	"UBA5(NM_024818.6):c.895C>T (p.P299S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000800992"	"0"	"50"	"3"	"132395348"	"132395348"	"subst"	"8.22781E-6"	"01943"	"NPHP3_000064"	"g.132395348T>A"	""	""	""	"UBA5(NM_024818.4):c.1193T>A (p.M398K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800993"	"0"	"50"	"3"	"132405143"	"132405143"	"subst"	"4.06098E-6"	"01943"	"NPHP3_000065"	"g.132405143T>C"	""	""	""	"NPHP3(NM_153240.4):c.3290A>G (p.N1097S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800994"	"0"	"30"	"3"	"132405152"	"132405152"	"subst"	"0.000491379"	"02326"	"NPHP3_000009"	"g.132405152C>T"	""	""	""	"NPHP3(NM_153240.5):c.3281G>A (p.(Arg1094Gln), p.R1094Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800995"	"0"	"50"	"3"	"132405228"	"132405228"	"subst"	"4.06157E-5"	"01943"	"NPHP3_000066"	"g.132405228C>T"	""	""	""	"NPHP3(NM_153240.4):c.3205G>A (p.G1069R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800996"	"0"	"30"	"3"	"132407920"	"132407920"	"subst"	"0.000284692"	"02326"	"ACAD11_000013"	"g.132407920G>C"	""	""	""	"NPHP3(NM_153240.5):c.2881C>G (p.Q961E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800997"	"0"	"30"	"3"	"132411531"	"132411531"	"subst"	"0.000150303"	"02330"	"ACAD11_000047"	"g.132411531A>G"	""	""	""	"NPHP3(NM_153240.4):c.2442T>C (p.Y814=), NPHP3(NM_153240.5):c.2442T>C (p.Y814=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800998"	"0"	"50"	"3"	"132415632"	"132415632"	"subst"	"6.90406E-5"	"01943"	"NPHP3_000067"	"g.132415632C>T"	""	""	""	"NPHP3(NM_153240.4):c.2114G>A (p.R705H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800999"	"0"	"30"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"02325"	"ACAD11_000024"	"g.132427031G>A"	""	""	""	"NPHP3(NM_153240.4):c.1189C>T (p.R397C, p.(Arg397Cys)), NPHP3(NM_153240.5):c.1189C>T (p.R397C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801000"	"0"	"30"	"3"	"132427115"	"132427115"	"subst"	"1.62898E-5"	"02326"	"ACAD11_000054"	"g.132427115C>A"	""	""	""	"NPHP3(NM_153240.5):c.1119-14G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801001"	"0"	"30"	"3"	"132432050"	"132432050"	"subst"	"0"	"02330"	"NPHP3_000068"	"g.132432050T>C"	""	""	""	"NPHP3(NM_153240.5):c.1038A>G (p.E346=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000801002"	"0"	"50"	"3"	"132435639"	"132435639"	"subst"	"0"	"01943"	"NPHP3_000069"	"g.132435639G>T"	""	""	""	"NPHP3(NM_153240.4):c.785C>A (p.S262Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000801003"	"0"	"30"	"3"	"132435765"	"132435765"	"subst"	"0"	"02330"	"NPHP3_000070"	"g.132435765G>C"	""	""	""	"NPHP3(NM_153240.5):c.671-12C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000813717"	"3"	"70"	"3"	"132438619"	"132438619"	"subst"	"0.00161205"	"00000"	"NPHP3_000044"	"g.132438619G>A"	""	"{PMID:Xu 2020:31630094}"	""	"NPHP3 NM_153240: g.2685C>T, c.449C>T, p.A150V"	""	"Germline"	"yes"	""	"0"	""	""	"g.132719775G>A"	""	"likely pathogenic"	"ACMG"
"0000813981"	"0"	"50"	"3"	"132405212"	"132405212"	"subst"	"0.000548263"	"00000"	"NPHP3_000012"	"g.132405212C>T"	""	"{PMID:Redin-2012:22773737}"	""	"NPHP3:p.[R1074H];(=)"	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000813987"	"0"	"50"	"3"	"132420346"	"132420346"	"subst"	"0"	"00000"	"NPHP3_000071"	"g.132420346G>C"	""	"{PMID:Redin-2012:22773737}"	""	"c.[1556C>G];[=]"	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000834087"	"11"	"50"	"3"	"132400937"	"132400937"	"subst"	"0"	"00006"	"NPHP3_000072"	"g.132400937T>C"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3813-3(IVS26)A>G"	""	"Germline"	""	"rs756596834"	"0"	""	""	"g.132682093T>C"	""	"VUS"	"ACMG"
"0000834088"	"3"	"50"	"3"	"132400937"	"132400937"	"subst"	"0"	"00006"	"NPHP3_000072"	"g.132400937T>C"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3813-3(IVS26)A>G"	""	"Germline"	""	"rs756596834"	"0"	""	""	"g.132682093T>C"	""	"VUS"	"ACMG"
"0000834089"	"21"	"90"	"3"	"132401664"	"132401664"	"subst"	"0"	"00006"	"NPHP3_000075"	"g.132401664T>G"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3697-2(IVS25)A>C"	""	"Germline"	""	""	"0"	""	""	"g.132682820T>G"	""	"pathogenic"	"ACMG"
"0000834090"	"21"	"50"	"3"	"132424584"	"132424584"	"subst"	"8.24498E-6"	"00006"	"NPHP3_000084"	"g.132424584C>T"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1350(exon8)G>A"	""	"Germline"	""	"rs751202958"	"0"	""	""	"g.132705740C>T"	""	"VUS"	"ACMG"
"0000834091"	"11"	"50"	"3"	"132407943"	"132407943"	"subst"	"0"	"00006"	"NPHP3_000079"	"g.132407943A>G"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.2858(exon20)T>C"	""	"Germline"	""	""	"0"	""	""	"g.132689099A>G"	""	"VUS"	"ACMG"
"0000834092"	"21"	"70"	"3"	"132411604"	"132411604"	"subst"	"0"	"00006"	"NPHP3_000080"	"g.132411604A>C"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.2369(exon17)T>G"	""	"Germline"	""	""	"0"	""	""	"g.132692760A>C"	""	"likely pathogenic"	"ACMG"
"0000834093"	"21"	"90"	"3"	"132418832"	"132418832"	"subst"	"4.87373E-5"	"00006"	"NPHP3_000082"	"g.132418832C>T"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1817(exon12)G>A"	""	"Germline"	""	"rs182135982"	"0"	""	""	"g.132699988C>T"	""	"pathogenic"	"ACMG"
"0000834094"	"21"	"90"	"3"	"132418832"	"132418832"	"subst"	"4.87373E-5"	"00006"	"NPHP3_000082"	"g.132418832C>T"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1817(exon12)G>A"	""	"Germline"	""	"rs182135982"	"0"	""	""	"g.132699988C>T"	""	"pathogenic"	"ACMG"
"0000834095"	"21"	"50"	"3"	"132433981"	"132433981"	"subst"	"0"	"00006"	"NPHP3_000088"	"g.132433981C>T"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.905(exon5)G>A"	""	"Germline"	""	""	"0"	""	""	"g.132715137C>T"	""	"VUS"	"ACMG"
"0000834096"	"21"	"50"	"3"	"132400937"	"132400937"	"subst"	"0"	"00006"	"NPHP3_000072"	"g.132400937T>C"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3813-3(IVS26)A>G"	""	"Germline"	""	"rs756596834"	"0"	""	""	"g.132682093T>C"	""	"VUS"	"ACMG"
"0000834097"	"21"	"70"	"3"	"132411604"	"132411604"	"subst"	"2.03105E-5"	"00006"	"NPHP3_000081"	"g.132411604A>G"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.2369(exon17)T>C"	""	"Germline"	""	"rs398124546"	"0"	""	""	"g.132692760A>G"	""	"likely pathogenic"	"ACMG"
"0000834098"	"21"	"70"	"3"	"132411604"	"132411604"	"subst"	"2.03105E-5"	"00006"	"NPHP3_000081"	"g.132411604A>G"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.2369(exon17)T>C"	""	"Germline"	""	"rs398124546"	"0"	""	""	"g.132692760A>G"	""	"likely pathogenic"	"ACMG"
"0000834099"	"11"	"50"	"3"	"132400937"	"132400937"	"subst"	"0"	"00006"	"NPHP3_000072"	"g.132400937T>C"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3813-3(IVS26)A>G"	""	"Germline"	""	"rs756596834"	"0"	""	""	"g.132682093T>C"	""	"VUS"	"ACMG"
"0000834100"	"21"	"70"	"3"	"132401659"	"132401662"	"del"	"0"	"00006"	"NPHP3_000074"	"g.132401659_132401662del"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3699(exon26)_c.3702(exon26)delAAAA"	""	"Germline"	""	""	"0"	""	""	"g.132682815_132682818del"	""	"likely pathogenic"	"ACMG"
"0000834101"	"21"	"90"	"3"	"132401584"	"132401584"	"subst"	"3.25185E-5"	"00006"	"NPHP3_000073"	"g.132401584G>A"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3775(exon26)C>T"	""	"Germline"	""	"rs758716466"	"0"	""	""	"g.132682740G>A"	""	"pathogenic"	"ACMG"
"0000834147"	"21"	"90"	"3"	"132427046"	"132427046"	"subst"	"4.0622E-6"	"00006"	"NPHP3_000086"	"g.132427046G>A"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1174(exon7)C>T"	""	"Germline"	""	"rs1485445500"	"0"	""	""	"g.132708202G>A"	""	"pathogenic"	"ACMG"
"0000834148"	"11"	"90"	"3"	"132405215"	"132405215"	"subst"	"0"	"00006"	"NPHP3_000077"	"g.132405215A>C"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3218(exon23)T>G"	""	"Germline"	""	""	"0"	""	""	"g.132686371A>C"	""	"pathogenic"	"ACMG"
"0000834149"	"11"	"70"	"3"	"132407599"	"132407599"	"subst"	"0"	"00006"	"NPHP3_000078"	"g.132407599A>G"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3020(exon21)T>C"	""	"Germline"	""	""	"0"	""	""	"g.132688755A>G"	""	"likely pathogenic"	"ACMG"
"0000834150"	"21"	"70"	"3"	"132411604"	"132411604"	"subst"	"2.03105E-5"	"00006"	"NPHP3_000081"	"g.132411604A>G"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.2369(exon17)T>C"	""	"Germline"	""	"rs398124546"	"0"	""	""	"g.132692760A>G"	""	"likely pathogenic"	"ACMG"
"0000834151"	"11"	"50"	"3"	"132423208"	"132423208"	"subst"	"0"	"00006"	"NPHP3_000083"	"g.132423208A>C"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1358(exon9)T>G"	""	"Germline"	""	""	"0"	""	""	"g.132704364A>C"	""	"VUS"	"ACMG"
"0000834152"	"11"	"70"	"3"	"132424630"	"132424632"	"del"	"0"	"00006"	"NPHP3_000085"	"g.132424630_132424632del"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1304(exon8)_c.1306(exon8)delAAG"	""	"Germline"	""	"rs1456714047"	"0"	""	""	"g.132705786_132705788del"	""	"likely pathogenic"	"ACMG"
"0000834153"	"11"	"70"	"3"	"132424630"	"132424632"	"del"	"0"	"00006"	"NPHP3_000085"	"g.132424630_132424632del"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1304(exon8)_c.1306(exon8)delAAG"	""	"Germline"	""	"rs1456714047"	"0"	""	""	"g.132705786_132705788del"	""	"likely pathogenic"	"ACMG"
"0000834154"	"3"	"90"	"3"	"132435676"	"132435676"	"subst"	"0"	"00006"	"NPHP3_000090"	"g.132435676G>A"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.748(exon4)C>T"	""	"Germline"	""	""	"0"	""	""	"g.132716832G>A"	""	"pathogenic"	"ACMG"
"0000834155"	"11"	"90"	"3"	"132433999"	"132433999"	"subst"	"0"	"00006"	"NPHP3_000089"	"g.132433999C>T"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.887(exon5)G>A"	""	"Germline"	""	""	"0"	""	""	"g.132715155C>T"	""	"pathogenic"	"ACMG"
"0000834156"	"11"	"90"	"3"	"132441199"	"132441199"	"subst"	"0"	"00006"	"NPHP3_000091"	"g.132441199T>A"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1(exon1)A>T"	""	"Germline"	""	""	"0"	""	""	"g.132722355T>A"	""	"pathogenic"	"ACMG"
"0000834157"	"11"	"70"	"3"	"132403567"	"132403568"	"del"	"0"	"00006"	"NPHP3_000076"	"g.132403567_132403568del"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3402(exon24)_c.3403(exon24)delTG"	""	"Germline"	""	"rs746849675"	"0"	""	""	"g.132684723_132684724del"	""	"likely pathogenic"	"ACMG"
"0000834158"	"21"	"70"	"3"	"132403567"	"132403568"	"del"	"0"	"00006"	"NPHP3_000076"	"g.132403567_132403568del"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.3402(exon24)_c.3403(exon24)delTG"	""	"Germline"	""	"rs746849675"	"0"	""	""	"g.132684723_132684724del"	""	"likely pathogenic"	"ACMG"
"0000834159"	"11"	"50"	"3"	"132432022"	"132432022"	"subst"	"0"	"00006"	"NPHP3_000087"	"g.132432022C>T"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.1066(exon6)G>A"	""	"Germline"	""	""	"0"	""	""	"g.132713178C>T"	""	"VUS"	"ACMG"
"0000834160"	"11"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"00006"	"NPHP3_000020"	"g.132408108_132408109del"	""	"{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}"	""	"c.2694-2(IVS19)_c.2694-1(IVS19)delAG"	""	"Germline"	""	"rs751527253"	"0"	""	""	"g.132689264_132689265del"	""	"pathogenic"	"ACMG"
"0000840983"	"11"	"90"	"3"	"132437989"	"132437989"	"subst"	"4.31098E-6"	"00006"	"NPHP3_000092"	"g.132437989C>A"	""	"{PMID:Larrue 2020:34545098}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"VCV000812666"	"pathogenic (recessive)"	""
"0000840984"	"21"	"90"	"3"	"132436749"	"132436749"	"subst"	"0"	"00006"	"NPHP3_000093"	"g.132436749G>C"	""	"{PMID:Larrue 2020:34545098}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	"VCV000812665"	"pathogenic (recessive)"	""
"0000845571"	"3"	"70"	"3"	"132401584"	"132401584"	"subst"	"3.25185E-5"	"00000"	"NPHP3_000073"	"g.132401584G>A"	""	"{PMID:Otto 2008:18076122}"	""	"NPHP3 c.3775C>T, p.R1259X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.132682740G>A"	""	"likely pathogenic"	""
"0000845572"	"3"	"70"	"3"	"132401584"	"132401584"	"subst"	"3.25185E-5"	"00000"	"NPHP3_000073"	"g.132401584G>A"	""	"{PMID:Otto 2008:18076122}"	""	"NPHP3 c.3775C>T, p.R1259X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.132682740G>A"	""	"likely pathogenic"	""
"0000845573"	"3"	"70"	"3"	"132401545"	"132401545"	"subst"	"0"	"00000"	"NPHP3-ACAD11_000001"	"g.132401545A>G"	""	"{PMID:Otto 2008:18076122}"	""	"NPHP3 c.381212T>C, Splice site"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.132682701A>G"	""	"likely pathogenic"	""
"0000845574"	"3"	"70"	"3"	"132401545"	"132401545"	"subst"	"0"	"00000"	"NPHP3-ACAD11_000001"	"g.132401545A>G"	""	"{PMID:Otto 2008:18076122}"	""	"NPHP3 c.381212T>C, Splice site"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.132682701A>G"	""	"likely pathogenic"	""
"0000845899"	"0"	"70"	"3"	"132407949"	"132407949"	"subst"	"4.06527E-6"	"00000"	"NPHP3-ACAD11_000003"	"g.132407949C>T"	""	"{PMID:Kang 2016:27491411}"	""	"NPHP3 c.2852G>A, p.Arg951Gln"	"single heterozygous variant in a recessive disease; no second causative allele found"	"Unknown"	"?"	""	"0"	""	""	"g.132689105C>T"	""	"likely pathogenic"	""
"0000845909"	"0"	"90"	"3"	"132420305"	"132420305"	"subst"	"0"	"00000"	"NPHP3-ACAD11_000004"	"g.132420305C>G"	""	"{PMID:Kang 2016:27491411}"	""	"NPHP3 c.1597G>C, p.Gly533Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.132701461C>G"	""	"pathogenic"	""
"0000845910"	"0"	"90"	"3"	"132401602"	"132401602"	"subst"	"2.84502E-5"	"00000"	"NPHP3-ACAD11_000002"	"g.132401602G>C"	""	"{PMID:Kang 2016:27491411}"	""	"NPHP3 c.1597G>C, p.Gly533Arg"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.132682758G>C"	""	"pathogenic"	""
"0000845911"	"0"	"70"	"3"	"132438644"	"132438644"	"subst"	"1.22923E-5"	"00000"	"NPHP3-ACAD11_000005"	"g.132438644G>A"	""	"{PMID:Kang 2016:27491411}"	""	"NPHP3 c.424C>T, p.Arg142*"	"single heterozygous variant in a recessive disease; no second causative allele found"	"Unknown"	"?"	""	"0"	""	""	"g.132719800G>A"	""	"likely pathogenic"	""
"0000845925"	"0"	"70"	"3"	"132438644"	"132438644"	"subst"	"1.22923E-5"	"00000"	"NPHP3-ACAD11_000005"	"g.132438644G>A"	""	"{PMID:Kang 2016:27491411}"	""	"NPHP3 c.424C>T, p.Arg142*"	"single heterozygous variant in a recessive disease; no second causative allele found"	"Unknown"	"?"	""	"0"	""	""	"g.132719800G>A"	""	"likely pathogenic"	""
"0000850137"	"0"	"50"	"3"	"132390931"	"132390931"	"subst"	"0"	"01943"	"ACAD11_000056"	"g.132390931A>G"	""	""	""	"UBA5(NM_024818.4):c.722A>G (p.E241G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850138"	"0"	"30"	"3"	"132418756"	"132418756"	"subst"	"0.00153636"	"02326"	"NPHP3_000029"	"g.132418756C>T"	""	""	""	"NPHP3(NM_153240.4):c.1887+6G>A (p.(=)), NPHP3(NM_153240.5):c.1887+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850139"	"0"	"50"	"3"	"132434030"	"132434030"	"subst"	"4.06266E-6"	"01943"	"ACAD11_000059"	"g.132434030G>C"	""	""	""	"NPHP3(NM_153240.4):c.856C>G (p.Q286E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850140"	"0"	"10"	"3"	"132438619"	"132438619"	"subst"	"0.00161205"	"02330"	"NPHP3_000044"	"g.132438619G>A"	""	""	""	"NPHP3(NM_153240.4):c.449C>T (p.A150V), NPHP3(NM_153240.5):c.449C>T (p.A150V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000850141"	"0"	"30"	"3"	"132440789"	"132440789"	"subst"	"0.000143015"	"02326"	"ACAD11_000031"	"g.132440789G>A"	""	""	""	"NPHP3(NM_153240.5):c.393+18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850142"	"0"	"50"	"3"	"132440961"	"132440961"	"subst"	"0"	"01943"	"ACAD11_000061"	"g.132440961G>A"	""	""	""	"NPHP3(NM_153240.4):c.239C>T (p.S80L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000858802"	"0"	"30"	"3"	"132384718"	"132384718"	"subst"	"2.43988E-5"	"01943"	"ACAD11_000055"	"g.132384718A>C"	""	""	""	"UBA5(NM_024818.4):c.207+6A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858803"	"0"	"90"	"3"	"132394747"	"132394747"	"subst"	"0.00189745"	"02326"	"UBA5_000014"	"g.132394747G>A"	""	""	""	"UBA5(NM_024818.3):c.1111G>A (p.(Ala371Thr)), UBA5(NM_024818.4):c.1111G>A (p.A371T), UBA5(NM_024818.5):c.1111G>A (p.A371T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000858804"	"0"	"50"	"3"	"132401637"	"132401637"	"subst"	"9.34883E-5"	"01943"	"ACAD11_000057"	"g.132401637A>G"	""	""	""	"NPHP3(NM_153240.4):c.3722T>C (p.L1241S), NPHP3(NM_153240.5):c.3722T>C (p.(Leu1241Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000858805"	"0"	"30"	"3"	"132405181"	"132405181"	"subst"	"0.00149037"	"02326"	"NPHP3_000010"	"g.132405181T>C"	""	""	""	"NPHP3(NM_153240.4):c.3252A>G (p.T1084=), NPHP3(NM_153240.5):c.3252A>G (p.T1084=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858806"	"0"	"30"	"3"	"132423209"	"132423209"	"subst"	"0.000333249"	"01943"	"ACAD11_000058"	"g.132423209G>A"	""	""	""	"NPHP3(NM_153240.4):c.1357C>T (p.L453=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858807"	"0"	"30"	"3"	"132438579"	"132438579"	"subst"	"1.26778E-5"	"01943"	"ACAD11_000060"	"g.132438579A>G"	""	""	""	"NPHP3(NM_153240.4):c.489T>C (p.H163=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858808"	"0"	"30"	"3"	"132438618"	"132438618"	"subst"	"0.00335888"	"02326"	"NPHP3_000043"	"g.132438618C>T"	""	""	""	"NPHP3(NM_153240.4):c.450G>A (p.A150=), NPHP3(NM_153240.5):c.450G>A (p.A150=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858809"	"0"	"50"	"3"	"132441115"	"132441115"	"subst"	"0"	"02327"	"ACAD11_000062"	"g.132441115C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000872379"	"11"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"03612"	"NPHP3_000020"	"g.132408108_132408109del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.132689264_132689265del"	""	"likely pathogenic"	"ACMG"
"0000873907"	"0"	"10"	"3"	"132401603"	"132401603"	"subst"	"0.000690945"	"00000"	"NPHP3_000003"	"g.132401603G>C"	""	"{PMID:Bell 2011:21228398}"	""	"NPHP3 3:133884293 (hg18) het CM032020"	"non-causative, heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.132682759G>C"	""	"benign"	""
"0000880423"	"21"	"70"	"3"	"132438630"	"132438633"	"del"	"0"	"00000"	"NPHP3-ACAD11_000007"	"g.132438630_132438633del"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 435-438delAAGT, fsX148"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.132719786_132719789del"	""	"likely pathogenic"	""
"0000880427"	"21"	"50"	"3"	"132427063"	"132427063"	"subst"	"0.00187292"	"00000"	"ACAD11_000025"	"g.132427063T>C"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 c.1157A>G, p.(Asn386Ser)"	"single heterozygous, no second allele found"	"Germline"	"?"	""	"0"	""	""	"g.132708219T>C"	""	"VUS"	""
"0000880428"	"21"	"50"	"3"	"132441046"	"132441046"	"subst"	"0.0136813"	"00000"	"NPHP3_000001"	"g.132441046C>T"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 c.154G>A, p.(Ala52Thr)"	"single heterozygous, no second allele found"	"Germline"	"?"	""	"0"	""	""	"g.132722202C>T"	""	"VUS"	""
"0000880437"	"11"	"70"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"00000"	"ACAD11_000024"	"g.132427031G>A"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 C1189T, p.R397C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.132708187G>A"	""	"likely pathogenic"	""
"0000880438"	"11"	"70"	"3"	"132427031"	"132427031"	"subst"	"0.00303437"	"00000"	"ACAD11_000024"	"g.132427031G>A"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 C1189T, p.R397C"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.132708187G>A"	""	"likely pathogenic"	""
"0000880439"	"0"	"90"	"3"	"132441046"	"132441046"	"subst"	"0.0136813"	"00000"	"NPHP3_000001"	"g.132441046C>T"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 G154A, A52T"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.132722202C>T"	""	"pathogenic"	""
"0000880440"	"0"	"70"	"3"	"132427063"	"132427063"	"subst"	"0.00187292"	"00000"	"ACAD11_000025"	"g.132427063T>C"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 A1157G, N386S"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.132708219T>C"	""	"likely pathogenic"	""
"0000880443"	"11"	"50"	"3"	"132402369"	"132402369"	"subst"	"0"	"00000"	"NPHP3-ACAD11_000006"	"g.132402369C>G"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 IVS24-1G3C, Splice site"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.132683525C>G"	""	"VUS"	""
"0000880445"	"21"	"50"	"3"	"132440838"	"132440838"	"subst"	"0"	"00000"	"NPHP3-ACAD11_000008"	"g.132440838G>C"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 C362G, T121R"	"heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.132721994G>C"	""	"VUS"	""
"0000880447"	"0"	"50"	"3"	"132402277"	"132402277"	"subst"	"0.000272298"	"00000"	"ACAD11_000008"	"g.132402277G>A"	""	"{PMID:Hoefele 2007:17855640}"	""	"NPHP3 c.3662C>T, p.(Ala1221Val)"	"single heterozygous, no second allele found"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.132683433G>A"	""	"VUS"	""
"0000885565"	"0"	"30"	"3"	"132408032"	"132408032"	"subst"	"0.000796172"	"02330"	"NPHP3_000019"	"g.132408032G>A"	""	""	""	"NPHP3(NM_153240.4):c.2769C>T (p.F923=), NPHP3(NM_153240.5):c.2769C>T (p.F923=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911832"	"0"	"90"	"3"	"132432132"	"132432132"	"subst"	"4.32119E-5"	"02326"	"ACAD11_000063"	"g.132432132T>C"	""	""	""	"NPHP3(NM_153240.5):c.958-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000911833"	"0"	"30"	"3"	"132441011"	"132441011"	"subst"	"7.92778E-5"	"02326"	"ACAD11_000064"	"g.132441011C>G"	""	""	""	"NPHP3(NM_153240.5):c.189G>C (p.G63=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923837"	"0"	"30"	"3"	"132403464"	"132403464"	"subst"	"0.000195112"	"02326"	"NPHP3_000008"	"g.132403464T>C"	""	""	""	"NPHP3(NM_153240.4):c.3504A>G (p.A1168=), NPHP3(NM_153240.5):c.3504A>G (p.A1168=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923838"	"0"	"90"	"3"	"132415642"	"132415642"	"subst"	"4.06207E-5"	"02327"	"ACAD11_000019"	"g.132415642G>A"	""	""	""	"NPHP3(NM_153240.4):c.2104C>T (p.R702*), NPHP3(NM_153240.5):c.2104C>T (p.R702*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000923839"	"0"	"50"	"3"	"132433966"	"132433966"	"subst"	"0"	"02327"	"ACAD11_000065"	"g.132433966G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000923840"	"0"	"50"	"3"	"132435600"	"132435600"	"subst"	"8.12301E-6"	"02326"	"ACAD11_000066"	"g.132435600C>T"	""	""	""	"NPHP3(NM_153240.5):c.823+1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000928715"	"0"	"30"	"3"	"132437998"	"132437998"	"subst"	"0.000736307"	"02326"	"ACAD11_000030"	"g.132437998G>C"	""	""	""	"NPHP3(NM_153240.5):c.520-10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948028"	"0"	"30"	"3"	"132406078"	"132406078"	"subst"	"0.000125933"	"02330"	"ACAD11_000067"	"g.132406078A>C"	""	""	""	"NPHP3(NM_153240.5):c.3126-8T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948029"	"0"	"30"	"3"	"132407739"	"132407739"	"subst"	"0.000207523"	"02330"	"ACAD11_000068"	"g.132407739G>C"	""	""	""	"NPHP3(NM_153240.5):c.2884-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948031"	"0"	"30"	"3"	"132441082"	"132441082"	"subst"	"7.48815E-5"	"02330"	"ACAD11_000069"	"g.132441082G>A"	""	""	""	"NPHP3(NM_153240.5):c.118C>T (p.L40=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000972437"	"1"	"90"	"3"	"132411551"	"132411551"	"dup"	"0"	"00006"	"NPHP3_000094"	"g.132411551dup"	""	"{PMID:Fujimaru 2021:34013113}"	""	"2425dupA"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132692707dup"	""	"pathogenic (recessive)"	""
"0000972460"	"2"	"90"	"3"	"132415575"	"132415575"	"subst"	"0"	"00006"	"NPHP3_000095"	"g.132415575C>T"	""	"{PMID:Fujimaru 2021:34013113}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.132696731C>T"	""	"pathogenic (recessive)"	""
"0000975581"	"0"	"50"	"3"	"132407587"	"132407587"	"subst"	"6.50533E-5"	"01804"	"ACAD11_000070"	"g.132407587G>A"	""	""	""	"NPHP3(NM_153240.5):c.3032C>T (p.(Ala1011Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975582"	"0"	"30"	"3"	"132418796"	"132418796"	"subst"	"0.00069049"	"02326"	"ACAD11_000021"	"g.132418796A>G"	""	""	""	"NPHP3(NM_153240.4):c.1853T>C (p.I618T), NPHP3(NM_153240.5):c.1853T>C (p.I618T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975583"	"0"	"50"	"3"	"132437919"	"132437919"	"subst"	"8.12269E-6"	"01804"	"ACAD11_000071"	"g.132437919G>A"	""	""	""	"NPHP3(NM_153240.5):c.589C>T (p.(Leu197Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975584"	"0"	"30"	"3"	"132441011"	"132441011"	"subst"	"7.92778E-5"	"02330"	"ACAD11_000064"	"g.132441011C>G"	""	""	""	"NPHP3(NM_153240.5):c.189G>C (p.G63=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975585"	"0"	"50"	"3"	"132441135"	"132441135"	"subst"	"0.000141136"	"01804"	"ACAD11_000072"	"g.132441135G>A"	""	""	""	"NPHP3(NM_153240.5):c.65C>T (p.(Ala22Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975586"	"0"	"30"	"3"	"132441143"	"132441143"	"subst"	"0.0158218"	"01804"	"ACAD11_000032"	"g.132441143C>G"	""	""	""	"NPHP3(NM_153240.4):c.57G>C (p.T19=), NPHP3(NM_153240.5):c.57G>C (p.(Thr19=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000989985"	"3"	"90"	"3"	"132403550"	"132403550"	"dup"	"0"	"00006"	"NPHP3_000096"	"g.132403550dup"	""	"{PMID:Ozyavuz Cubuk 2024:38971859}"	""	""	"ACMG PVS1, PM2, PP5"	"Germline"	""	""	"0"	""	""	"g.132684706dup"	""	"pathogenic"	""
"0000993298"	"0"	"30"	"3"	"132400776"	"132400776"	"subst"	"0.000320924"	"02326"	"ACAD11_000007"	"g.132400776A>G"	""	""	""	"NPHP3(NM_153240.5):c.3971T>C (p.F1324S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993299"	"0"	"30"	"3"	"132403468"	"132403468"	"subst"	"0.000345548"	"02326"	"ACAD11_000010"	"g.132403468C>T"	""	""	""	"NPHP3(NM_153240.5):c.3500G>A (p.R1167H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000993300"	"0"	"30"	"3"	"132407633"	"132407633"	"subst"	"0.000138287"	"01804"	"NPHP3_000015"	"g.132407633C>T"	""	""	""	"NPHP3(NM_153240.4):c.2986G>A (p.V996M, p.(Val996Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001017265"	"1"	"90"	"3"	"132410043"	"132410043"	"subst"	"4.06312E-5"	"00006"	"NPHP3_000097"	"g.132410043G>A"	""	"{PMID:Lord 2024:39243181}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132691199G>A"	"{CV:571559}"	"pathogenic (recessive)"	""
"0001017266"	"2"	"90"	"3"	"132403393"	"132403393"	"subst"	"0"	"00006"	"NPHP3_000098"	"g.132403393C>T"	""	"{PMID:Lord 2024:39243181}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.132684549C>T"	""	"likely pathogenic (recessive)"	""
"0001024724"	"0"	"50"	"3"	"132295859"	"132295859"	"subst"	"4.17561E-6"	"02325"	"ACAD11_000073"	"g.132295859T>C"	""	""	""	"ACAD11(NM_032169.5):c.1775A>G (p.D592G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033687"	"0"	"30"	"3"	"132319967"	"132319967"	"subst"	"8.2087E-6"	"01804"	"ACAD11_000074"	"g.132319967G>A"	""	""	""	"ACKR4(NM_016557.4):c.726G>A (p.(Leu242=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033688"	"0"	"50"	"3"	"132401637"	"132401637"	"subst"	"9.34883E-5"	"01804"	"ACAD11_000057"	"g.132401637A>G"	""	""	""	"NPHP3(NM_153240.4):c.3722T>C (p.L1241S), NPHP3(NM_153240.5):c.3722T>C (p.(Leu1241Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033689"	"0"	"50"	"3"	"132402290"	"132402290"	"subst"	"3.25116E-5"	"01804"	"ACAD11_000036"	"g.132402290T>G"	""	""	""	"NPHP3(NM_153240.5):c.3649A>C (p.(Ser1217Arg), p.S1217R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033690"	"0"	"90"	"3"	"132403595"	"132403595"	"subst"	"8.13941E-6"	"01804"	"ACAD11_000075"	"g.132403595G>A"	""	""	""	"NPHP3(NM_153240.5):c.3373C>T (p.(Arg1125*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001033691"	"0"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"01804"	"NPHP3_000020"	"g.132408108_132408109del"	""	""	""	"NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001033692"	"0"	"90"	"3"	"132408108"	"132408109"	"del"	"0.000276299"	"02326"	"NPHP3_000020"	"g.132408108_132408109del"	""	""	""	"NPHP3(NM_153240.4):c.2694-2_2694-1delAG, NPHP3(NM_153240.5):c.2694-2_2694-1del, NPHP3(NM_153240.5):c.2694-2_2694-1delAG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001033693"	"0"	"10"	"3"	"132409455"	"132409455"	"subst"	"0.027892"	"01804"	"ACAD11_000014"	"g.132409455C>T"	""	""	""	"NPHP3(NM_153240.4):c.2610G>A (p.P870=), NPHP3(NM_153240.5):c.2610G>A (p.(Pro870=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001033694"	"0"	"30"	"3"	"132415666"	"132415666"	"subst"	"0.00438418"	"01804"	"NPHP3_000027"	"g.132415666G>A"	""	""	""	"NPHP3(NM_153240.4):c.2089-9C>T, NPHP3(NM_153240.5):c.2089-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033695"	"0"	"50"	"3"	"132419209"	"132419209"	"subst"	"0"	"01804"	"ACAD11_000076"	"g.132419209G>C"	""	""	""	"NPHP3(NM_153240.5):c.1712C>G (p.(Ser571Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes NPHP3
## Count = 274
"{{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}}"
"0000060557"	"00025697"	"70"	"944"	"0"	"944"	"0"	"c.944A>T"	"r.(?)"	"p.(Asp315Val)"	"5"
"0000060558"	"00025697"	"10"	"154"	"0"	"154"	"0"	"c.154G>A"	"r.(?)"	"p.(Ala52Thr)"	"1"
"0000246153"	"00025697"	"10"	"3697"	"-7"	"3697"	"-7"	"c.3697-7del"	"r.(=)"	"p.(=)"	""
"0000246154"	"00025697"	"10"	"3126"	"-4"	"3126"	"-4"	"c.3126-4del"	"r.spl?"	"p.?"	""
"0000246177"	"00025697"	"30"	"1351"	"-14"	"1351"	"-14"	"c.1351-14T>G"	"r.(=)"	"p.(=)"	""
"0000251298"	"00025697"	"10"	"1525"	"-5"	"1525"	"-5"	"c.1525-5del"	"r.spl?"	"p.?"	""
"0000253768"	"00025697"	"10"	"2571"	"-7"	"2571"	"-7"	"c.2571-7T>C"	"r.(=)"	"p.(=)"	""
"0000253769"	"00025697"	"10"	"824"	"-9"	"824"	"-9"	"c.824-9T>C"	"r.(=)"	"p.(=)"	""
"0000255073"	"00025697"	"30"	"864"	"0"	"864"	"0"	"c.864T>A"	"r.(?)"	"p.(Thr288=)"	""
"0000255215"	"00025697"	"30"	"1350"	"8"	"1350"	"8"	"c.1350+8T>C"	"r.(=)"	"p.(=)"	""
"0000255216"	"00025697"	"30"	"670"	"6"	"670"	"6"	"c.670+6T>C"	"r.(=)"	"p.(=)"	""
"0000255851"	"00025697"	"50"	"82"	"0"	"82"	"0"	"c.82T>C"	"r.(?)"	"p.(Cys28Arg)"	""
"0000293190"	"00025697"	"10"	"105"	"0"	"105"	"0"	"c.105G>A"	"r.(?)"	"p.(Lys35=)"	""
"0000293191"	"00025697"	"10"	"1887"	"6"	"1887"	"6"	"c.1887+6G>A"	"r.(=)"	"p.(=)"	""
"0000293192"	"00025697"	"10"	"2132"	"0"	"2132"	"0"	"c.2132A>G"	"r.(?)"	"p.(Asn711Ser)"	""
"0000293193"	"00025697"	"50"	"233"	"0"	"233"	"0"	"c.233G>T"	"r.(?)"	"p.(Gly78Val)"	""
"0000293194"	"00025697"	"10"	"2937"	"0"	"2937"	"0"	"c.2937C>T"	"r.(?)"	"p.(Pro979=)"	""
"0000293195"	"00025697"	"50"	"3756"	"0"	"3756"	"0"	"c.3756C>G"	"r.(?)"	"p.(Ser1252Arg)"	""
"0000293196"	"00025697"	"30"	"3941"	"0"	"3941"	"0"	"c.3941G>C"	"r.(?)"	"p.(Ser1314Thr)"	""
"0000298749"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl?"	"p.?"	""
"0000300344"	"00025697"	"10"	"-69"	"0"	"-69"	"0"	"c.-69A>G"	"r.(?)"	"p.(=)"	""
"0000300345"	"00025697"	"10"	"154"	"0"	"154"	"0"	"c.154G>A"	"r.(?)"	"p.(Ala52Thr)"	""
"0000300346"	"00025697"	"10"	"1986"	"0"	"1986"	"0"	"c.1986G>A"	"r.(?)"	"p.(Arg662=)"	""
"0000300347"	"00025697"	"90"	"2851"	"0"	"2851"	"0"	"c.2851C>T"	"r.(?)"	"p.(Arg951Ter)"	""
"0000300348"	"00025697"	"10"	"3759"	"0"	"3759"	"0"	"c.3759G>A"	"r.(?)"	"p.(Leu1253=)"	""
"0000300349"	"00025697"	"10"	"3913"	"0"	"3913"	"0"	"c.3913C>T"	"r.(?)"	"p.(Arg1305Cys)"	""
"0000300350"	"00025697"	"10"	"394"	"-75"	"394"	"-74"	"c.394-75_394-74del"	"r.(=)"	"p.(=)"	""
"0000300351"	"00025697"	"30"	"449"	"0"	"449"	"0"	"c.449C>T"	"r.(?)"	"p.(Ala150Val)"	""
"0000300352"	"00025697"	"10"	"670"	"936"	"670"	"936"	"c.670+936del"	"r.(=)"	"p.(=)"	""
"0000304438"	"00025697"	"50"	"1009"	"0"	"1009"	"0"	"c.1009C>T"	"r.(?)"	"p.(His337Tyr)"	""
"0000304439"	"00025697"	"30"	"105"	"0"	"105"	"0"	"c.105G>A"	"r.(?)"	"p.(Lys35=)"	""
"0000304440"	"00025697"	"50"	"1190"	"0"	"1190"	"0"	"c.1190G>A"	"r.(?)"	"p.(Arg397His)"	""
"0000304442"	"00025697"	"30"	"154"	"0"	"154"	"0"	"c.154G>A"	"r.(?)"	"p.(Ala52Thr)"	""
"0000304443"	"00025697"	"30"	"1887"	"6"	"1887"	"6"	"c.1887+6G>A"	"r.(=)"	"p.(=)"	""
"0000304444"	"00025697"	"30"	"2089"	"-9"	"2089"	"-9"	"c.2089-9C>T"	"r.(=)"	"p.(=)"	""
"0000304445"	"00025697"	"30"	"2544"	"0"	"2544"	"0"	"c.2544A>C"	"r.(?)"	"p.(Leu848=)"	""
"0000304446"	"00025697"	"30"	"2607"	"0"	"2607"	"0"	"c.2607C>T"	"r.(?)"	"p.(Leu869=)"	""
"0000304447"	"00025697"	"10"	"2693"	"17"	"2693"	"17"	"c.2693+17A>G"	"r.(=)"	"p.(=)"	""
"0000304448"	"00025697"	"30"	"2769"	"0"	"2769"	"0"	"c.2769C>T"	"r.(?)"	"p.(Phe923=)"	""
"0000304449"	"00025697"	"50"	"2809"	"0"	"2809"	"0"	"c.2809G>T"	"r.(?)"	"p.(Asp937Tyr)"	""
"0000304450"	"00025697"	"50"	"2986"	"0"	"2986"	"0"	"c.2986G>A"	"r.(?)"	"p.(Val996Met)"	""
"0000304452"	"00025697"	"50"	"3221"	"0"	"3221"	"0"	"c.3221G>A"	"r.(?)"	"p.(Arg1074His)"	""
"0000304453"	"00025697"	"50"	"3229"	"0"	"3229"	"0"	"c.3229G>A"	"r.(?)"	"p.(Ala1077Thr)"	""
"0000304454"	"00025697"	"30"	"3252"	"0"	"3252"	"0"	"c.3252A>G"	"r.(?)"	"p.(Thr1084=)"	""
"0000304455"	"00025697"	"50"	"3504"	"0"	"3504"	"0"	"c.3504A>G"	"r.(?)"	"p.(Ala1168=)"	""
"0000304456"	"00025697"	"50"	"3756"	"0"	"3756"	"0"	"c.3756C>G"	"r.(?)"	"p.(Ser1252Arg)"	""
"0000304457"	"00025697"	"10"	"3759"	"0"	"3759"	"0"	"c.3759G>A"	"r.(?)"	"p.(Leu1253=)"	""
"0000304458"	"00025697"	"30"	"3941"	"0"	"3941"	"0"	"c.3941G>C"	"r.(?)"	"p.(Ser1314Thr)"	""
"0000304459"	"00025697"	"30"	"449"	"0"	"449"	"0"	"c.449C>T"	"r.(?)"	"p.(Ala150Val)"	""
"0000304460"	"00025697"	"10"	"450"	"0"	"450"	"0"	"c.450G>A"	"r.(?)"	"p.(Ala150=)"	""
"0000304461"	"00025697"	"30"	"621"	"0"	"621"	"0"	"c.621A>G"	"r.(?)"	"p.(Val207=)"	""
"0000329606"	"00025697"	"50"	"66413"	"0"	"66413"	"0"	"c.*62420C>G"	"r.(=)"	"p.(=)"	""
"0000329607"	"00025697"	"50"	"3281"	"0"	"3281"	"0"	"c.3281G>A"	"r.(?)"	"p.(Arg1094Gln)"	""
"0000329608"	"00025697"	"30"	"3221"	"0"	"3221"	"0"	"c.3221G>A"	"r.(?)"	"p.(Arg1074His)"	""
"0000329611"	"00025697"	"50"	"1794"	"0"	"1794"	"0"	"c.1794G>C"	"r.(?)"	"p.(Lys598Asn)"	""
"0000337140"	"00025697"	"90"	"3812"	"2"	"3812"	"2"	"c.3812+2dup"	"r.spl?"	"p.?"	""
"0000339397"	"00025697"	"10"	"3252"	"0"	"3252"	"0"	"c.3252A>G"	"r.(?)"	"p.(Thr1084=)"	""
"0000340831"	"00025697"	"10"	"3759"	"0"	"3759"	"0"	"c.3759G>A"	"r.(?)"	"p.(Leu1253=)"	""
"0000344507"	"00025697"	"90"	"3406"	"0"	"3406"	"0"	"c.3406C>T"	"r.(?)"	"p.(Gln1136Ter)"	""
"0000344541"	"00025697"	"50"	"3985"	"0"	"3985"	"0"	"c.3985C>A"	"r.(?)"	"p.(Gln1329Lys)"	""
"0000348147"	"00025697"	"50"	"3521"	"0"	"3521"	"0"	"c.3521C>T"	"r.(?)"	"p.(Pro1174Leu)"	""
"0000349202"	"00025697"	"50"	"2675"	"0"	"2675"	"0"	"c.2675C>T"	"r.(?)"	"p.(Ser892Phe)"	""
"0000349663"	"00025697"	"50"	"2923"	"0"	"2923"	"0"	"c.2923A>G"	"r.(?)"	"p.(Thr975Ala)"	""
"0000350887"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl?"	"p.?"	""
"0000368548"	"00025697"	"90"	"2154"	"0"	"2154"	"0"	"c.2154C>T"	"r.2154c>u"	"p.Phe718="	"15"
"0000368549"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl"	"p.?"	""
"0000368550"	"00025697"	"90"	"2154"	"0"	"2154"	"0"	"c.2154C>T"	"r.2154c>u"	"p.Phe718="	"15"
"0000368551"	"00025697"	"90"	"3003"	"0"	"3003"	"0"	"c.3003del"	"r.3003del"	"p.Phe1001Leufs*61"	""
"0000369404"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl"	"p.?"	"15i"
"0000369405"	"00025697"	"90"	"2154"	"0"	"2154"	"0"	"c.2154C>T"	"r.2154c>u"	"p.Phe718="	"15"
"0000517944"	"00025697"	"50"	"25346"	"0"	"25346"	"0"	"c.*21353C>T"	"r.(=)"	"p.(=)"	""
"0000517945"	"00025697"	"50"	"25244"	"0"	"25244"	"0"	"c.*21251T>C"	"r.(=)"	"p.(=)"	""
"0000517946"	"00025697"	"30"	"24867"	"0"	"24867"	"0"	"c.*20874A>T"	"r.(=)"	"p.(=)"	""
"0000517947"	"00025697"	"30"	"20043"	"0"	"20043"	"0"	"c.*16050C>T"	"r.(=)"	"p.(=)"	""
"0000517948"	"00025697"	"30"	"10529"	"0"	"10529"	"0"	"c.*6536C>T"	"r.(=)"	"p.(=)"	""
"0000517949"	"00025697"	"90"	"10000"	"0"	"10000"	"0"	"c.*6007C>T"	"r.(=)"	"p.(=)"	""
"0000517951"	"00025697"	"30"	"3941"	"0"	"3941"	"0"	"c.3941G>C"	"r.(?)"	"p.(Ser1314Thr)"	""
"0000517952"	"00025697"	"50"	"3662"	"0"	"3662"	"0"	"c.3662C>T"	"r.(?)"	"p.(Ala1221Val)"	""
"0000517953"	"00025697"	"50"	"3550"	"0"	"3550"	"0"	"c.3550G>A"	"r.(?)"	"p.(Ala1184Thr)"	""
"0000517954"	"00025697"	"30"	"3550"	"0"	"3550"	"0"	"c.3550G>A"	"r.(?)"	"p.(Ala1184Thr)"	""
"0000517955"	"00025697"	"10"	"3550"	"0"	"3550"	"0"	"c.3550G>A"	"r.(?)"	"p.(Ala1184Thr)"	""
"0000517957"	"00025697"	"10"	"3252"	"0"	"3252"	"0"	"c.3252A>G"	"r.(?)"	"p.(Thr1084=)"	""
"0000517958"	"00025697"	"10"	"3125"	"12"	"3125"	"12"	"c.3125+12dup"	"r.(=)"	"p.(=)"	""
"0000517959"	"00025697"	"50"	"2894"	"0"	"2894"	"0"	"c.2894C>T"	"r.(?)"	"p.(Pro965Leu)"	""
"0000517960"	"00025697"	"30"	"2881"	"0"	"2881"	"0"	"c.2881C>G"	"r.(?)"	"p.(Gln961Glu)"	""
"0000517962"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl?"	"p.?"	""
"0000517963"	"00025697"	"10"	"2693"	"17"	"2693"	"17"	"c.2693+17A>G"	"r.(=)"	"p.(=)"	""
"0000517964"	"00025697"	"10"	"2610"	"0"	"2610"	"0"	"c.2610G>A"	"r.(?)"	"p.(Pro870=)"	""
"0000517965"	"00025697"	"10"	"2571"	"-7"	"2571"	"-7"	"c.2571-7T>C"	"r.(=)"	"p.(=)"	""
"0000517967"	"00025697"	"50"	"2310"	"0"	"2310"	"0"	"c.2310G>A"	"r.(?)"	"p.(Gln770=)"	""
"0000517969"	"00025697"	"50"	"2168"	"0"	"2168"	"0"	"c.2168C>T"	"r.(?)"	"p.(Ala723Val)"	""
"0000517970"	"00025697"	"90"	"2104"	"0"	"2104"	"0"	"c.2104C>T"	"r.(?)"	"p.(Arg702Ter)"	""
"0000517971"	"00025697"	"50"	"1903"	"0"	"1903"	"0"	"c.1903A>G"	"r.(?)"	"p.(Met635Val)"	""
"0000517972"	"00025697"	"50"	"1903"	"0"	"1903"	"0"	"c.1903A>G"	"r.(?)"	"p.(Met635Val)"	""
"0000517973"	"00025697"	"30"	"1887"	"6"	"1887"	"6"	"c.1887+6G>A"	"r.(=)"	"p.(=)"	""
"0000517974"	"00025697"	"50"	"1853"	"0"	"1853"	"0"	"c.1853T>C"	"r.(?)"	"p.(Ile618Thr)"	""
"0000517975"	"00025697"	"30"	"1525"	"-5"	"1525"	"-5"	"c.1525-5dup"	"r.spl?"	"p.?"	""
"0000517976"	"00025697"	"70"	"1437"	"0"	"1437"	"0"	"c.1437T>G"	"r.(?)"	"p.(Asp479Glu)"	""
"0000517977"	"00025697"	"30"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000517978"	"00025697"	"50"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000517979"	"00025697"	"30"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000517980"	"00025697"	"10"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000517981"	"00025697"	"30"	"1157"	"0"	"1157"	"0"	"c.1157A>G"	"r.(?)"	"p.(Asn386Ser)"	""
"0000517982"	"00025697"	"50"	"1157"	"0"	"1157"	"0"	"c.1157A>G"	"r.(?)"	"p.(Asn386Ser)"	""
"0000517984"	"00025697"	"30"	"1157"	"0"	"1157"	"0"	"c.1157A>G"	"r.(?)"	"p.(Asn386Ser)"	""
"0000517985"	"00025697"	"30"	"1157"	"0"	"1157"	"0"	"c.1157A>G"	"r.(?)"	"p.(Asn386Ser)"	""
"0000517986"	"00025697"	"10"	"1118"	"16"	"1118"	"16"	"c.1118+16dup"	"r.(=)"	"p.(=)"	""
"0000517987"	"00025697"	"70"	"1115"	"0"	"1115"	"0"	"c.1115C>T"	"r.(?)"	"p.(Pro372Leu)"	""
"0000517988"	"00025697"	"90"	"1072"	"0"	"1072"	"0"	"c.1072G>T"	"r.(?)"	"p.(Glu358Ter)"	""
"0000517989"	"00025697"	"90"	"541"	"0"	"548"	"0"	"c.541_548dup"	"r.(?)"	"p.(Gln184MetfsTer7)"	""
"0000517990"	"00025697"	"10"	"520"	"-10"	"520"	"-10"	"c.520-10C>G"	"r.(=)"	"p.(=)"	""
"0000517991"	"00025697"	"10"	"393"	"18"	"393"	"18"	"c.393+18C>T"	"r.(=)"	"p.(=)"	""
"0000517992"	"00025697"	"30"	"154"	"0"	"154"	"0"	"c.154G>A"	"r.(?)"	"p.(Ala52Thr)"	""
"0000517993"	"00025697"	"10"	"105"	"0"	"105"	"0"	"c.105G>A"	"r.(?)"	"p.(Lys35=)"	""
"0000517994"	"00025697"	"30"	"57"	"0"	"57"	"0"	"c.57G>C"	"r.(?)"	"p.(Thr19=)"	""
"0000608330"	"00025697"	"90"	"3702"	"0"	"3702"	"0"	"c.3702dup"	"r.(?)"	"p.(His1235ThrfsTer3)"	""
"0000608331"	"00025697"	"50"	"3649"	"0"	"3649"	"0"	"c.3649A>C"	"r.(?)"	"p.(Ser1217Arg)"	""
"0000608332"	"00025697"	"30"	"2703"	"0"	"2703"	"0"	"c.2703T>C"	"r.(?)"	"p.(Phe901=)"	""
"0000621181"	"00025697"	"50"	"20060"	"0"	"20060"	"0"	"c.*16067C>T"	"r.(=)"	"p.(=)"	""
"0000621182"	"00025697"	"30"	"10526"	"0"	"10526"	"0"	"c.*6533T>A"	"r.(=)"	"p.(=)"	""
"0000646863"	"00025697"	"90"	"3448"	"0"	"3448"	"0"	"c.3448C>T"	"r.(?)"	"p.(Gln1150*)"	"24"
"0000646864"	"00025697"	"90"	"2529"	"0"	"2529"	"0"	"c.2529del"	"r.(?)"	"p.(Tyr844Thrfs*5)"	""
"0000651072"	"00025697"	"50"	"3550"	"0"	"3550"	"0"	"c.3550G>A"	"r.(?)"	"p.(Ala1184Thr)"	""
"0000651073"	"00025697"	"30"	"2610"	"0"	"2610"	"0"	"c.2610G>A"	"r.(=)"	"p.(=)"	""
"0000651074"	"00025697"	"50"	"1853"	"0"	"1853"	"0"	"c.1853T>C"	"r.(?)"	"p.(Ile618Thr)"	""
"0000651075"	"00025697"	"90"	"1729"	"0"	"1729"	"0"	"c.1729C>T"	"r.(?)"	"p.(Arg577*)"	""
"0000651076"	"00025697"	"50"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000651077"	"00025697"	"30"	"449"	"0"	"449"	"0"	"c.449C>T"	"r.(?)"	"p.(Ala150Val)"	""
"0000651078"	"00025697"	"90"	"273"	"0"	"273"	"0"	"c.273del"	"r.(?)"	"p.(Tyr91*)"	""
"0000654805"	"00025697"	"30"	"3941"	"0"	"3941"	"0"	"c.3941G>C"	"r.(?)"	"p.(Ser1314Thr)"	""
"0000654806"	"00025697"	"30"	"1629"	"-17"	"1629"	"-17"	"c.1629-17C>A"	"r.(=)"	"p.(=)"	""
"0000663570"	"00025697"	"50"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000669742"	"00025697"	"30"	"2610"	"0"	"2610"	"0"	"c.2610G>A"	"r.(=)"	"p.(=)"	""
"0000676826"	"00025697"	"90"	"10000"	"0"	"10000"	"0"	"c.*6007C>T"	"r.(=)"	"p.(=)"	""
"0000676827"	"00025697"	"30"	"3664"	"0"	"3664"	"0"	"c.3664T>C"	"r.(?)"	"p.(Leu1222=)"	""
"0000676828"	"00025697"	"90"	"2104"	"0"	"2104"	"0"	"c.2104C>T"	"r.(?)"	"p.(Arg702Ter)"	""
"0000676829"	"00025697"	"50"	"1903"	"0"	"1903"	"0"	"c.1903A>G"	"r.(?)"	"p.(Met635Val)"	""
"0000676830"	"00025697"	"50"	"863"	"0"	"863"	"0"	"c.863C>T"	"r.(?)"	"p.(Thr288Ile)"	""
"0000688943"	"00025697"	"50"	"3137"	"0"	"3137"	"0"	"c.3137C>G"	"r.(?)"	"p.(Ala1046Gly)"	""
"0000688944"	"00025697"	"10"	"2769"	"0"	"2769"	"0"	"c.2769C>T"	"r.(?)"	"p.(Phe923=)"	""
"0000688945"	"00025697"	"50"	"1986"	"0"	"1986"	"0"	"c.1986G>T"	"r.(?)"	"p.(Arg662Ser)"	""
"0000719190"	"00025697"	"50"	"3499"	"0"	"3499"	"0"	"c.3499C>T"	"r.(?)"	"p.(Arg1167Cys)"	""
"0000719191"	"00025697"	"30"	"3330"	"-19"	"3330"	"-19"	"c.3330-19T>C"	"r.(=)"	"p.(=)"	""
"0000719192"	"00025697"	"30"	"3221"	"0"	"3221"	"0"	"c.3221G>A"	"r.(?)"	"p.(Arg1074His)"	""
"0000719193"	"00025697"	"50"	"2995"	"0"	"2995"	"0"	"c.2995A>G"	"r.(?)"	"p.(Lys999Glu)"	""
"0000719194"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl?"	"p.?"	""
"0000719195"	"00025697"	"10"	"2693"	"17"	"2693"	"17"	"c.2693+17A>G"	"r.(=)"	"p.(=)"	""
"0000719196"	"00025697"	"30"	"2442"	"0"	"2442"	"0"	"c.2442T>C"	"r.(?)"	"p.(Tyr814=)"	""
"0000719197"	"00025697"	"30"	"2169"	"0"	"2169"	"0"	"c.2169G>A"	"r.(?)"	"p.(Ala723=)"	""
"0000719198"	"00025697"	"30"	"1986"	"-7"	"1986"	"-7"	"c.1986-7A>G"	"r.(=)"	"p.(=)"	""
"0000719199"	"00025697"	"30"	"1744"	"-8"	"1744"	"-8"	"c.1744-8T>C"	"r.(=)"	"p.(=)"	""
"0000719200"	"00025697"	"30"	"384"	"0"	"384"	"0"	"c.384C>G"	"r.(?)"	"p.(Ala128=)"	""
"0000760027"	"00025697"	"50"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000791999"	"00025697"	"90"	"3422"	"0"	"3422"	"0"	"c.3422T>C"	"r.(?)"	"p.(Leu1141Pro)"	"24"
"0000792199"	"00025697"	"50"	"3702"	"0"	"3702"	"0"	"c.3702delA"	"r.(?)"	"p.(Lys1234Asnfs*13)"	"26"
"0000792200"	"00025697"	"50"	"3702"	"0"	"3702"	"0"	"c.3702delA"	"r.(?)"	"p.(Lys1234Asnfs*13)"	"26"
"0000800990"	"00025697"	"50"	"10605"	"0"	"10605"	"0"	"c.*6612A>G"	"r.(=)"	"p.(=)"	""
"0000800991"	"00025697"	"70"	"10573"	"0"	"10573"	"0"	"c.*6580G>A"	"r.(=)"	"p.(=)"	""
"0000800992"	"00025697"	"50"	"9399"	"0"	"9399"	"0"	"c.*5406A>T"	"r.(=)"	"p.(=)"	""
"0000800993"	"00025697"	"50"	"3290"	"0"	"3290"	"0"	"c.3290A>G"	"r.(?)"	"p.(Asn1097Ser)"	""
"0000800994"	"00025697"	"30"	"3281"	"0"	"3281"	"0"	"c.3281G>A"	"r.(?)"	"p.(Arg1094Gln)"	""
"0000800995"	"00025697"	"50"	"3205"	"0"	"3205"	"0"	"c.3205G>A"	"r.(?)"	"p.(Gly1069Arg)"	""
"0000800996"	"00025697"	"30"	"2881"	"0"	"2881"	"0"	"c.2881C>G"	"r.(?)"	"p.(Gln961Glu)"	""
"0000800997"	"00025697"	"30"	"2442"	"0"	"2442"	"0"	"c.2442T>C"	"r.(?)"	"p.(Tyr814=)"	""
"0000800998"	"00025697"	"50"	"2114"	"0"	"2114"	"0"	"c.2114G>A"	"r.(?)"	"p.(Arg705His)"	""
"0000800999"	"00025697"	"30"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000801000"	"00025697"	"30"	"1119"	"-14"	"1119"	"-14"	"c.1119-14G>T"	"r.(=)"	"p.(=)"	""
"0000801001"	"00025697"	"30"	"1038"	"0"	"1038"	"0"	"c.1038A>G"	"r.(?)"	"p.(Glu346=)"	""
"0000801002"	"00025697"	"50"	"785"	"0"	"785"	"0"	"c.785C>A"	"r.(?)"	"p.(Ser262Tyr)"	""
"0000801003"	"00025697"	"30"	"671"	"-12"	"671"	"-12"	"c.671-12C>G"	"r.(=)"	"p.(=)"	""
"0000813717"	"00025697"	"70"	"449"	"0"	"449"	"0"	"c.449C>T"	"r.(?)"	"p.(Ala150Val)"	""
"0000813981"	"00025697"	"50"	"3221"	"0"	"3221"	"0"	"c.3221G>A"	"r.(?)"	"p.(Arg1074His)"	"23"
"0000813987"	"00025697"	"50"	"1556"	"0"	"1556"	"0"	"c.1556C>G"	"r.(?)"	"p.(Ala519Gly)"	"10"
"0000834087"	"00025697"	"50"	"3813"	"-3"	"3813"	"-3"	"c.3813-3A>G"	"r.spl"	"p.?"	"26i"
"0000834088"	"00025697"	"50"	"3813"	"-3"	"3813"	"-3"	"c.3813-3A>G"	"r.spl"	"p.?"	"26i"
"0000834089"	"00025697"	"90"	"3697"	"-2"	"3697"	"-2"	"c.3697-2A>C"	"r.spl"	"p.?"	"25i"
"0000834090"	"00025697"	"50"	"1350"	"0"	"1350"	"0"	"c.1350G>A"	"r.(?)"	"p.(Gln450=)"	"8"
"0000834091"	"00025697"	"50"	"2858"	"0"	"2858"	"0"	"c.2858T>C"	"r.(?)"	"p.(Leu953Pro)"	"20"
"0000834092"	"00025697"	"70"	"2369"	"0"	"2369"	"0"	"c.2369T>G"	"r.(?)"	"p.(Leu790Arg)"	"17"
"0000834093"	"00025697"	"90"	"1817"	"0"	"1817"	"0"	"c.1817G>A"	"r.(?)"	"p.(Trp606Ter)"	"12"
"0000834094"	"00025697"	"90"	"1817"	"0"	"1817"	"0"	"c.1817G>A"	"r.(?)"	"p.(Trp606Ter)"	"12"
"0000834095"	"00025697"	"50"	"905"	"0"	"905"	"0"	"c.905G>A"	"r.(?)"	"p.(Cys302Tyr)"	"5"
"0000834096"	"00025697"	"50"	"3813"	"-3"	"3813"	"-3"	"c.3813-3A>G"	"r.spl"	"p.?"	"26i"
"0000834097"	"00025697"	"70"	"2369"	"0"	"2369"	"0"	"c.2369T>C"	"r.(?)"	"p.(Leu790Pro)"	"17"
"0000834098"	"00025697"	"70"	"2369"	"0"	"2369"	"0"	"c.2369T>C"	"r.(?)"	"p.(Leu790Pro)"	"17"
"0000834099"	"00025697"	"50"	"3813"	"-3"	"3813"	"-3"	"c.3813-3A>G"	"r.spl"	"p.?"	"26i"
"0000834100"	"00025697"	"70"	"3699"	"0"	"3702"	"0"	"c.3699_3702del"	"r.(?)"	"p.(Lys1233AsnfsTer13)"	"26"
"0000834101"	"00025697"	"90"	"3775"	"0"	"3775"	"0"	"c.3775C>T"	"r.(?)"	"p.(Arg1259Ter)"	"26"
"0000834147"	"00025697"	"90"	"1174"	"0"	"1174"	"0"	"c.1174C>T"	"r.(?)"	"p.(Arg392Ter)"	"7"
"0000834148"	"00025697"	"90"	"3218"	"0"	"3218"	"0"	"c.3218T>G"	"r.(?)"	"p.(Leu1073Ter)"	"23"
"0000834149"	"00025697"	"70"	"3020"	"0"	"3020"	"0"	"c.3020T>C"	"r.(?)"	"p.(Leu1007Pro)"	"21"
"0000834150"	"00025697"	"70"	"2369"	"0"	"2369"	"0"	"c.2369T>C"	"r.(?)"	"p.(Leu790Pro)"	"17"
"0000834151"	"00025697"	"50"	"1358"	"0"	"1358"	"0"	"c.1358T>G"	"r.(?)"	"p.(Leu453Arg)"	"9"
"0000834152"	"00025697"	"70"	"1304"	"0"	"1306"	"0"	"c.1304_1306del"	"r.(?)"	"p.(Glu435del)"	"8"
"0000834153"	"00025697"	"70"	"1304"	"0"	"1306"	"0"	"c.1304_1306del"	"r.(?)"	"p.(Glu435del)"	"8"
"0000834154"	"00025697"	"90"	"748"	"0"	"748"	"0"	"c.748C>T"	"r.(?)"	"p.(Gln250Ter)"	"4"
"0000834155"	"00025697"	"90"	"887"	"0"	"887"	"0"	"c.887G>A"	"r.(?)"	"p.(Trp296Ter)"	"5"
"0000834156"	"00025697"	"90"	"1"	"0"	"1"	"0"	"c.1A>T"	"r.(?)"	"p.(Met1?)"	"1"
"0000834157"	"00025697"	"70"	"3402"	"0"	"3403"	"0"	"c.3402_3403del"	"r.(?)"	"p.(Ala1135SerfsTer5)"	"24"
"0000834158"	"00025697"	"70"	"3402"	"0"	"3403"	"0"	"c.3402_3403del"	"r.(?)"	"p.(Ala1135SerfsTer5)"	"24"
"0000834159"	"00025697"	"50"	"1066"	"0"	"1066"	"0"	"c.1066G>A"	"r.(?)"	"p.(Glu356Lys)"	"6"
"0000834160"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl"	"p.?"	"19i"
"0000840983"	"00025697"	"90"	"520"	"-1"	"520"	"-1"	"c.520-1G>T"	"r.520_527del"	"p.Ile174Glyfs*6"	"2i"
"0000840984"	"00025697"	"90"	"671"	"-996"	"671"	"-996"	"c.671-996C>G"	"r.670_671ins670+877_670+1039"	"p.Ala224fs"	"3i"
"0000845571"	"00025697"	"70"	"3775"	"0"	"3775"	"0"	"c.3775C>T"	"r.(?)"	"p.(Arg1259Ter)"	""
"0000845572"	"00025697"	"70"	"3775"	"0"	"3775"	"0"	"c.3775C>T"	"r.(?)"	"p.(Arg1259Ter)"	""
"0000845573"	"00025697"	"70"	"3812"	"2"	"3812"	"2"	"c.3812+2T>C"	"r.spl"	"p.(?)"	""
"0000845574"	"00025697"	"70"	"3812"	"2"	"3812"	"2"	"c.3812+2T>C"	"r.spl"	"p.(?)"	""
"0000845899"	"00025697"	"70"	"2852"	"0"	"2852"	"0"	"c.2852G>A"	"r.(?)"	"p.(Arg951Gln)"	""
"0000845909"	"00025697"	"90"	"1597"	"0"	"1597"	"0"	"c.1597G>C"	"r.(?)"	"p.(Gly533Arg)"	""
"0000845910"	"00025697"	"90"	"3757"	"0"	"3757"	"0"	"c.3757C>G"	"r.(?)"	"p.(Leu1253Val)"	""
"0000845911"	"00025697"	"70"	"424"	"0"	"424"	"0"	"c.424C>T"	"r.(?)"	"p.(Arg142Ter)"	""
"0000845925"	"00025697"	"70"	"424"	"0"	"424"	"0"	"c.424C>T"	"r.(?)"	"p.(Arg142Ter)"	""
"0000850137"	"00025697"	"50"	"13816"	"0"	"13816"	"0"	"c.*9823T>C"	"r.(=)"	"p.(=)"	""
"0000850138"	"00025697"	"30"	"1887"	"6"	"1887"	"6"	"c.1887+6G>A"	"r.(=)"	"p.(=)"	""
"0000850139"	"00025697"	"50"	"856"	"0"	"856"	"0"	"c.856C>G"	"r.(?)"	"p.(Gln286Glu)"	""
"0000850140"	"00025697"	"10"	"449"	"0"	"449"	"0"	"c.449C>T"	"r.(?)"	"p.(Ala150Val)"	""
"0000850141"	"00025697"	"30"	"393"	"18"	"393"	"18"	"c.393+18C>T"	"r.(=)"	"p.(=)"	""
"0000850142"	"00025697"	"50"	"239"	"0"	"239"	"0"	"c.239C>T"	"r.(?)"	"p.(Ser80Leu)"	""
"0000858802"	"00025697"	"30"	"20029"	"0"	"20029"	"0"	"c.*16036T>G"	"r.(=)"	"p.(=)"	""
"0000858803"	"00025697"	"90"	"10000"	"0"	"10000"	"0"	"c.*6007C>T"	"r.(=)"	"p.(=)"	""
"0000858804"	"00025697"	"50"	"3722"	"0"	"3722"	"0"	"c.3722T>C"	"r.(?)"	"p.(Leu1241Ser)"	""
"0000858805"	"00025697"	"30"	"3252"	"0"	"3252"	"0"	"c.3252A>G"	"r.(?)"	"p.(Thr1084=)"	""
"0000858806"	"00025697"	"30"	"1357"	"0"	"1357"	"0"	"c.1357C>T"	"r.(?)"	"p.(Leu453=)"	""
"0000858807"	"00025697"	"30"	"489"	"0"	"489"	"0"	"c.489T>C"	"r.(?)"	"p.(His163=)"	""
"0000858808"	"00025697"	"30"	"450"	"0"	"450"	"0"	"c.450G>A"	"r.(?)"	"p.(Ala150=)"	""
"0000858809"	"00025697"	"50"	"85"	"0"	"85"	"0"	"c.85G>A"	"r.(?)"	"p.(Glu29Lys)"	""
"0000872379"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl"	"p.?"	""
"0000873907"	"00025697"	"10"	"3756"	"0"	"3756"	"0"	"c.3756C>G"	"r.(?)"	"p.(Ser1252Arg)"	""
"0000880423"	"00025697"	"70"	"435"	"0"	"438"	"0"	"c.435_438delAAGT"	"r.(?)"	"p.(Ser146Leufs*2)"	""
"0000880427"	"00025697"	"50"	"1157"	"0"	"1157"	"0"	"c.1157A>G"	"r.(?)"	"p.(Asn386Ser)"	""
"0000880428"	"00025697"	"50"	"154"	"0"	"154"	"0"	"c.154G>A"	"r.(?)"	"p.(Ala52Thr)"	""
"0000880437"	"00025697"	"70"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000880438"	"00025697"	"70"	"1189"	"0"	"1189"	"0"	"c.1189C>T"	"r.(?)"	"p.(Arg397Cys)"	""
"0000880439"	"00025697"	"90"	"154"	"0"	"154"	"0"	"c.154G>A"	"r.(?)"	"p.(Ala52Thr)"	""
"0000880440"	"00025697"	"70"	"1157"	"0"	"1157"	"0"	"c.1157A>G"	"r.(?)"	"p.(Asn386Ser)"	""
"0000880443"	"00025697"	"50"	"3571"	"-1"	"3571"	"-1"	"c.3571-1G>C"	"r.spl"	"p.?"	""
"0000880445"	"00025697"	"50"	"362"	"0"	"362"	"0"	"c.362C>G"	"r.(?)"	"p.(Thr121Arg)"	""
"0000880447"	"00025697"	"50"	"3662"	"0"	"3662"	"0"	"c.3662C>T"	"r.(?)"	"p.(Ala1221Val)"	""
"0000885565"	"00025697"	"30"	"2769"	"0"	"2769"	"0"	"c.2769C>T"	"r.(?)"	"p.(Phe923=)"	""
"0000911832"	"00025697"	"90"	"958"	"-2"	"958"	"-2"	"c.958-2A>G"	"r.spl?"	"p.?"	""
"0000911833"	"00025697"	"30"	"189"	"0"	"189"	"0"	"c.189G>C"	"r.(?)"	"p.(Gly63=)"	""
"0000923837"	"00025697"	"30"	"3504"	"0"	"3504"	"0"	"c.3504A>G"	"r.(?)"	"p.(Ala1168=)"	""
"0000923838"	"00025697"	"90"	"2104"	"0"	"2104"	"0"	"c.2104C>T"	"r.(?)"	"p.(Arg702Ter)"	""
"0000923839"	"00025697"	"50"	"920"	"0"	"920"	"0"	"c.920C>T"	"r.(?)"	"p.(Thr307Ile)"	""
"0000923840"	"00025697"	"50"	"823"	"1"	"823"	"1"	"c.823+1G>A"	"r.spl?"	"p.?"	""
"0000928715"	"00025697"	"30"	"520"	"-10"	"520"	"-10"	"c.520-10C>G"	"r.(=)"	"p.(=)"	""
"0000948028"	"00025697"	"30"	"3126"	"-8"	"3126"	"-8"	"c.3126-8T>G"	"r.(=)"	"p.(=)"	""
"0000948029"	"00025697"	"30"	"2884"	"-4"	"2884"	"-4"	"c.2884-4C>G"	"r.spl?"	"p.?"	""
"0000948031"	"00025697"	"30"	"118"	"0"	"118"	"0"	"c.118C>T"	"r.(?)"	"p.(=)"	""
"0000972437"	"00025697"	"90"	"2425"	"0"	"2425"	"0"	"c.2425dup"	"r.(?)"	"p.(Met809AsnfsTer12)"	""
"0000972460"	"00025697"	"90"	"2171"	"0"	"2171"	"0"	"c.2171G>A"	"r.(?)"	"p.(Arg724His)"	""
"0000975581"	"00025697"	"50"	"3032"	"0"	"3032"	"0"	"c.3032C>T"	"r.(?)"	"p.(Ala1011Val)"	""
"0000975582"	"00025697"	"30"	"1853"	"0"	"1853"	"0"	"c.1853T>C"	"r.(?)"	"p.(Ile618Thr)"	""
"0000975583"	"00025697"	"50"	"589"	"0"	"589"	"0"	"c.589C>T"	"r.(?)"	"p.(Leu197Phe)"	""
"0000975584"	"00025697"	"30"	"189"	"0"	"189"	"0"	"c.189G>C"	"r.(?)"	"p.(Gly63=)"	""
"0000975585"	"00025697"	"50"	"65"	"0"	"65"	"0"	"c.65C>T"	"r.(?)"	"p.(Ala22Val)"	""
"0000975586"	"00025697"	"30"	"57"	"0"	"57"	"0"	"c.57G>C"	"r.(?)"	"p.(Thr19=)"	""
"0000989985"	"00025697"	"90"	"3419"	"0"	"3419"	"0"	"c.3419dup"	"r.(?)"	"p.(Asn1140LysfsTer8)"	""
"0000993298"	"00025697"	"30"	"3971"	"0"	"3971"	"0"	"c.3971T>C"	"r.(?)"	"p.(Phe1324Ser)"	""
"0000993299"	"00025697"	"30"	"3500"	"0"	"3500"	"0"	"c.3500G>A"	"r.(?)"	"p.(Arg1167His)"	""
"0000993300"	"00025697"	"30"	"2986"	"0"	"2986"	"0"	"c.2986G>A"	"r.(?)"	"p.(Val996Met)"	""
"0001017265"	"00025697"	"90"	"2563"	"0"	"2563"	"0"	"c.2563C>T"	"r.2563c>u"	"p.Gln855Ter"	""
"0001017266"	"00025697"	"90"	"3570"	"5"	"3570"	"5"	"c.3570+5G>A"	"r.3330_3570del"	"p.Thr1111fs"	"24i"
"0001024724"	"00025697"	"50"	"108888"	"0"	"108888"	"0"	"c.*104895A>G"	"r.(=)"	"p.(=)"	""
"0001033687"	"00025697"	"30"	"84780"	"0"	"84780"	"0"	"c.*80787C>T"	"r.(=)"	"p.(=)"	""
"0001033688"	"00025697"	"50"	"3722"	"0"	"3722"	"0"	"c.3722T>C"	"r.(?)"	"p.(Leu1241Ser)"	""
"0001033689"	"00025697"	"50"	"3649"	"0"	"3649"	"0"	"c.3649A>C"	"r.(?)"	"p.(Ser1217Arg)"	""
"0001033690"	"00025697"	"90"	"3373"	"0"	"3373"	"0"	"c.3373C>T"	"r.(?)"	"p.(Arg1125*)"	""
"0001033691"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl?"	"p.?"	""
"0001033692"	"00025697"	"90"	"2694"	"-2"	"2694"	"-1"	"c.2694-2_2694-1del"	"r.spl?"	"p.?"	""
"0001033693"	"00025697"	"10"	"2610"	"0"	"2610"	"0"	"c.2610G>A"	"r.(?)"	"p.(Pro870=)"	""
"0001033694"	"00025697"	"30"	"2089"	"-9"	"2089"	"-9"	"c.2089-9C>T"	"r.(=)"	"p.(=)"	""
"0001033695"	"00025697"	"50"	"1712"	"0"	"1712"	"0"	"c.1712C>G"	"r.(?)"	"p.(Ser571Cys)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 83
"{{screeningid}}"	"{{variantid}}"
"0000033198"	"0000060557"
"0000033198"	"0000060558"
"0000164935"	"0000368548"
"0000164935"	"0000368549"
"0000164936"	"0000368550"
"0000164936"	"0000368551"
"0000165670"	"0000369404"
"0000165671"	"0000369405"
"0000290051"	"0000646863"
"0000290211"	"0000646864"
"0000294383"	"0000651072"
"0000294384"	"0000651073"
"0000294385"	"0000651074"
"0000294386"	"0000651075"
"0000294387"	"0000651076"
"0000294388"	"0000651077"
"0000294389"	"0000651078"
"0000300750"	"0000663570"
"0000306054"	"0000669742"
"0000360201"	"0000760027"
"0000378982"	"0000791999"
"0000379117"	"0000792199"
"0000379118"	"0000792200"
"0000386310"	"0000813717"
"0000386457"	"0000813981"
"0000386460"	"0000813987"
"0000401044"	"0000834087"
"0000401044"	"0000834147"
"0000401045"	"0000834088"
"0000401046"	"0000834089"
"0000401046"	"0000834148"
"0000401047"	"0000834090"
"0000401047"	"0000834149"
"0000401048"	"0000834091"
"0000401048"	"0000834150"
"0000401049"	"0000834092"
"0000401049"	"0000834151"
"0000401050"	"0000834093"
"0000401050"	"0000834152"
"0000401051"	"0000834094"
"0000401051"	"0000834153"
"0000401052"	"0000834095"
"0000401052"	"0000834154"
"0000401053"	"0000834096"
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