### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PAX2)
# 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}}"
"PAX2"	"paired box 2"	"10"	"q24.31"	"unknown"	"NG_008680.2"	"UD_130829337499"	""	"https://www.LOVD.nl/PAX2"	""	"1"	"8616"	"5076"	"167409"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/PAX2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00000"	"2010-04-29 00:00:00"	"00006"	"2020-10-24 17:38:40"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00025241"	"PAX2"	"transcript variant e"	"007"	"NM_003990.3"	""	"NP_003981.2"	""	""	""	"-550"	"3557"	"1299"	"102505468"	"102589698"	"00006"	"2017-11-11 21:16:26"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00134"	"NPS"	"nail-patella syndrome (NPS)"	"AD"	"161200"	""	""	""	"00006"	"2013-05-26 11:53:22"	"00006"	"2021-12-10 21:51:32"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01257"	"PAPRS"	"papillorenal syndrome (PAPRS)"	"AD"	"120330"	""	""	""	"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"
"04606"	"FSGS7"	"glomerulosclerosis, focal segmental, type 7 (FSGS7)"	"AD"	"616002"	""	""	""	"00000"	"2015-09-23 10:25:23"	"00006"	"2020-10-24 17:39:01"
"05342"	"CAKUT"	"kidney and urinary tract, anomalies, congenital (CAKUT)"	""	""	""	""	""	"00006"	"2017-11-10 19:49:59"	"00006"	"2017-11-10 19:51:20"
"05396"	"FSGS"	"glomerulosclerosis, segmental, focal (FSGS)"	""	""	""	""	""	"00006"	"2018-02-16 17:34:10"	""	""
"05862"	"kidney disease"	"kidney disease"	""	""	""	""	""	"00006"	"2020-10-25 09:21:44"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"PAX2"	"01257"
"PAX2"	"04606"
"PAX2"	"05396"


## Individuals ## Do not remove or alter this header ##
## Count = 276
"{{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}}"
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00050569"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"affected, unknown family members"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00132981"	""	""	""	"1"	""	"00006"	"{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}"	""	"M"	""	""	""	"0"	""	""	""	"29100090-FamDC3"
"00132982"	""	""	""	"2"	""	"00006"	"{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}"	"2-genertion family, heterozygous carrier father"	"F"	""	""	""	"0"	""	""	""	"29100090-FamDC4"
"00315054"	""	""	""	"1"	""	"03804"	"{PMID:Sanyanusin 1995:8589702}"	"Sibling to Family 31; patient 2. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP"	"M"	""	""	""	"0"	""	""	""	""
"00315055"	""	""	""	"1"	""	"03804"	"{PMID:Sanyanusin 1995:8589702}"	"Sibling to Family 31; patient 1. Parents had normal ophthalmological exam and no renal disease; mother normal SSCP"	"M"	""	""	""	"0"	""	""	""	""
"00315056"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Inherited from affected father (Family 32; patient 2)"	"M"	""	"United States"	""	"0"	""	""	""	""
"00315057"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Father of Family32;patient 1.  Apparently de novo origin for this patient."	""	""	""	""	"0"	""	""	""	""
"00315058"	""	""	""	"1"	""	"03804"	"{PMID:Cheong 2007:17541647}"	"patient 3 in publication"	"M"	""	"Korea"	""	"0"	""	""	""	""
"00315059"	""	""	""	"1"	""	"03804"	"{PMID:Cheong 2007:17541647}"	"Patient 4 in publication"	"F"	""	"Korea"	""	"0"	""	""	""	""
"00315060"	""	""	""	"1"	""	"03804"	"{PMID:Cheong 2007:17541647}"	"Patient 5 in publication"	"M"	""	"Korea"	""	"0"	""	""	""	""
"00315061"	""	""	""	"1"	""	"03804"	"{PMID:Cheong 2007:17541647}"	"Sibling of Family 18; patient 1. Maternal germline mosaicism. Patient 1 in publication"	""	""	"Korea"	""	"0"	""	""	""	""
"00315062"	""	""	""	"1"	""	"03804"	"{PMID:Cheong 2007:17541647}"	"Sibling to Family 18; patient 1. Maternal germline mosaicism. Patient 2 in publication"	"M"	""	"Korea"	""	"0"	""	""	""	""
"00315063"	""	""	""	"1"	""	"03804"	"{PMID:Amiel 2000 :11093271}"	"Patient RA in publication."	""	""	""	""	"0"	""	""	""	""
"00315064"	""	""	""	"1"	""	"03804"	"{PMID:Amiel 2000:11093271}"	"Patient PE in publication."	""	""	""	""	"0"	""	""	""	""
"00315065"	""	""	""	"1"	""	"03804"	"{PMID:Amiel 2000:11093271}"	"Sibling to Family 21;patients 2 &3. Paternal germline mosaicism. Patient AR-II1  in publication."	""	""	""	""	"0"	""	""	""	""
"00315066"	""	""	""	"1"	""	"03804"	"{PMID:Amiel 2000:11093271}"	"Sibling to Family 21; Patients 1&3. Paternal germline mosaicism. Patient AR-II2 in publication."	""	""	""	""	"0"	""	""	""	""
"00315067"	""	""	""	"1"	""	"03804"	"{PMID:Amiel 2000:11093271}"	"Sibling to family 21; patients 1 &2.  Paternal germline mosaicism. Patient AR-II3 in publication."	""	""	""	""	"0"	""	""	""	""
"00315068"	""	""	""	"1"	""	"03804"	"{PMID:Weber 2006:16971658}"	"Sibling to Family 22;Patient 2.  PAX2 mutation inherited from clinically affected father.  Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA3 in publication."	"F"	""	""	""	"0"	""	""	""	""
"00315069"	""	""	""	"1"	""	"03804"	"{PMID:Weber 2006:16971658}"	"Sibling to Family 22;Patient 2.  PAX2 mutation inherited from clinically affected father.  Patient also harbored a maternally inherited p.(Asp227Tyr) variant in the SIX1 gene. Patient GDA4 in publication."	"F"	""	""	""	"0"	""	""	""	""
"00315070"	""	""	""	"1"	""	"03804"	"{PMID:Weber 2006:16971658}"	"Patient PRA9 in original publication."	"M"	""	""	""	"0"	""	""	""	""
"00315071"	""	""	""	"1"	""	"03804"	"{PMID:Weber 2006:16971658}"	"Patient PAR16 in original publication. De novo with normal parental testing."	"F"	""	""	""	"0"	""	""	""	""
"00315072"	""	""	""	"1"	""	"03804"	"{PMID:Salomon 2001:11168927}"	"Patient 2 in original published report."	""	""	""	""	"0"	""	""	""	""
"00315073"	""	""	""	"1"	""	"03804"	"{PMID:Salomon 2001:11168927}"	"Patient 3 in original published report.  de novo with normal parental sequencing."	""	""	""	""	"0"	""	""	""	""
"00315074"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 1997:9106533}"	"Mother of family 27;patient 2.  Unknown origin. Patient 656 in original report."	"F"	""	""	""	"0"	""	""	""	""
"00315075"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 1997:9106533}"	"Child of family 27;patient 1. Patient 657 in original published report."	""	""	""	""	"0"	""	""	""	""
"00315076"	""	""	""	"1"	""	"03804"	"{PMID:Weber 2006:16971658}"	"Father of Family 22; patients 1 and 2.  Did not come to clinical attention until diagnosis in daughters.  Normal ophthalmological exam."	"M"	""	""	""	"0"	""	""	""	""
"00315077"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 1997:9106533}"	"Patient 2646 in original published report"	"F"	""	""	""	"0"	""	""	""	""
"00315078"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 1999:10533062}"	"Patient 8691 in original report."	"F"	""	"United States"	""	"0"	""	""	"African American"	""
"00315079"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Sibling to Family 10; patient 2.  Inherited from father with optic nerve coloboma.  Father is mutation negative in blood, fibroblast, and oral mucosa."	"F"	""	""	""	"0"	""	""	""	""
"00315080"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Sibling to Family 10; patient 1. Inherited from father with optic nerve coloboma. Father is mutation negative in blood, fibroblast, and oral mucosa."	"M"	""	""	""	"0"	""	""	""	""
"00315081"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"de novo with normal parental sequencing."	"M"	""	""	""	"0"	""	""	""	""
"00315082"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"de novo with normal parental sequencing."	"M"	""	""	""	"0"	""	""	""	""
"00315083"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"De novo with normal parental sequencing."	"M"	""	""	""	"0"	""	""	""	""
"00315084"	""	""	""	"1"	""	"03804"	"{PMID:Tagami 2010:21151632}"	""	""	""	"Japan"	""	"0"	""	""	""	""
"00315085"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Offspring of Family 31; patient 2."	""	""	""	""	"0"	""	""	""	""
"00315086"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Paternal half niece to family 31; patients 1&2."	"F"	""	""	""	"0"	""	""	""	""
"00315087"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}"	"Patient X2003 in original report."	"M"	""	"Japan"	""	"0"	""	""	""	""
"00315088"	""	""	""	"1"	""	"03804"	"{PMID:Beby 2010:20075965}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315089"	""	""	""	"1"	""	"03804"	"{PMID:Chung 2001:11730657}"	"De novo with normal Allele specific oligonucleotide test in parents."	"F"	""	""	""	"0"	""	""	""	""
"00315090"	""	""	""	"1"	""	"03804"	"{PMID:Cunliffe 1998:9783702}"	"Patient 985 in original published report."	"M"	""	"Netherlands"	""	"0"	""	""	""	""
"00315091"	""	""	""	"1"	""	"03804"	"{PMID:Negrisolo 2010:21108633}"	"De novo with normal parental sequencing."	"F"	""	""	""	"0"	""	""	""	""
"00315092"	""	""	""	"1"	""	"03804"	"{PMID:Thomas 2011:21380624}"	"Noted as c.69_70insC in original manuscript."	"M"	""	""	""	"0"	""	""	""	""
"00315093"	""	""	""	"1"	""	"03804"	"{PMID:Thomas 2011:21380624}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315094"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 1999}"	"Daughter of family 8; patient 2.  Patient 12961 in original published report."	"F"	""	""	""	"0"	""	""	"white"	""
"00315095"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 1999:10533062}"	"Mother of family 8; patient 1.  Patient 12962 in original published report."	"F"	""	""	""	"0"	""	""	"white"	""
"00315096"	""	""	""	"1"	""	"03804"	"{PMID:Amiel 2000:11093271}"	"Normal sequencing in mother; father unavailable for analysis."	""	""	""	""	"0"	""	""	""	""
"00315097"	""	""	""	"1"	""	"03804"	"{PMID:Weber 2006:16971658}"	"Patient PRA1 in original published report."	""	""	""	""	"0"	""	""	""	""
"00315098"	""	""	""	"1"	""	"03804"	"{PMID:Salomon 2001:11168927}"	""	""	""	""	""	"0"	""	""	""	""
"00315099"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 1997:9106533}"	"Patient 579 in original published report."	"M"	""	""	""	"0"	""	""	""	""
"00315100"	""	""	""	"1"	""	"03804"	"{PMID:Fletcher 2005:16049068}"	"Patient II-3 in original published report.  Apparently de novo origin.  Mother of Family 38; patients 2&3."	"F"	""	""	"51y"	"0"	""	""	""	""
"00315101"	""	""	""	"1"	""	"03804"	"{PMID:Fletcher 2005:16049068}"	"Patient III-3 in original publication.  Son of Family 38; patient 1."	"M"	""	""	"16y"	"0"	""	""	""	""
"00315102"	""	""	""	"1"	""	"03804"	"{PMID:Fletcher 2005:16049068}"	"Patient III-4 in original publicaction. Daughter of family 38; patient 1.  Mother of family 38; patients 4,5,&6."	"F"	""	""	""	"0"	""	""	""	""
"00315103"	""	""	""	"1"	""	"03804"	"{PMID:Fletcher 2005:16049068}"	"Patient IV-1 in original published report.  Son of Family 38; patient 3.  Sibling to Family 38; patients 5 and 6."	"M"	""	"(Afghanistan)"	""	"0"	""	""	""	""
"00315104"	""	""	""	"1"	""	"03804"	""	"Patient IV-2 in original publication.  Twin sister to Family 38; patient 6.  Daughter of family 38; patient 3."	"F"	""	""	""	"0"	""	""	""	""
"00315105"	""	""	""	"1"	""	"03804"	"{PMID:Fletcher 2005:16049068}"	"Patient IV-3 in original report.  Monozygotic twin to family 38; patient 5.  Daughter of family 38; patient 3."	"F"	""	""	""	"0"	""	""	""	""
"00315106"	""	""	""	"1"	""	"03804"	"{PMID:Naito 1989:2644560}, {PMID:Higashide 2005:15652857}"	"Daughter of Family 42; patient 2. Detailed clinical description in Naito 1989."	"F"	""	""	""	"0"	""	""	""	""
"00315107"	""	""	""	"1"	""	"03804"	"{PMID:Higashide 2005:15652857}"	"Mother of family 42; patient 1.  Original clinical description in Naito 1989."	"F"	""	""	""	"0"	""	""	""	""
"00315108"	""	""	""	"1"	""	"03804"	"{PMID:DeVriendt 1998:9760197}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315109"	""	""	""	"1"	""	"03804"	"{PMID:Devriendt 1998:9760197}"	"Patient III-8 in original publication.  Mutation incorrectly noted as G75S in abstract."	"F"	""	""	""	"0"	""	""	""	""
"00315110"	""	""	""	"1"	""	"03804"	"{PMID:Devriendt 1998:9760197}"	"Individual IV-2 in original published report.  Mutation incorrectly called G75S in abstract."	"M"	""	""	""	"0"	""	""	""	""
"00315111"	""	""	""	"1"	""	"03804"	"{PMID:Devriendt 1998:9760197}"	"Patient IV-3 in original published report.  Mutation incorrectly called G75S in abstract."	"F"	""	""	""	"0"	""	""	""	""
"00315112"	""	""	""	"1"	""	"03804"	"{PMID:Devriendt 1998:9760197}"	"Patient IV-6 in original published report.  Mutation incorrectly called G75 in abstract"	"M"	""	""	""	"0"	""	""	""	""
"00315113"	""	""	""	"1"	""	"03804"	"{PMID:Devriendt 1998:9760197}"	"Individual IV-7 in original published report.  Mutation incorrectly called G75S in abstract."	"M"	""	""	""	"0"	""	""	""	""
"00315114"	""	""	""	"1"	""	"03804"	"{PMID:Devriendt 1998:9760197}"	"Individual V:2 in original published report.  Mutation incorrectly called G75S in abstract."	"F"	""	""	""	"0"	""	""	""	""
"00315115"	""	""	""	"1"	""	"03804"	"{PMID:Amiel 2000:11093271}"	"Family MA patient 1 in original published report.  Child of Family 49; patient 2."	""	""	""	""	"0"	""	""	""	""
"00315116"	""	""	""	"1"	""	"03804"	"{PMID:Amiel 2000:11093271}"	"Family MA patient 2 in original publication.  Father of Family 49; patient 1."	"M"	""	""	""	"0"	""	""	""	""
"00315117"	""	""	""	"1"	""	"03804"	"{PMID:Cheong 2007:17541647}"	"De novo with normal parental sequencing.  Patient 6 in original published report."	"M"	""	"Korea"	""	"0"	""	""	""	""
"00315118"	""	""	""	"1"	""	"03804"	"{PMID:Samimi 2008:18609495}"	"Age at renal failure not specified."	"M"	""	""	""	"0"	""	""	""	""
"00315119"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 2003:14566649}"	"Individual 1583 in original published report.  Two siblings died of renal failure but not evaluated."	"F"	""	""	""	"0"	""	""	""	""
"00315120"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 2003:14566649}"	"Individual 1584 in original published report.  Daughter of family 53; patient 1.  Mother of family 53; patient 3."	"F"	""	""	""	"0"	""	""	""	""
"00315121"	""	""	""	"1"	""	"03804"	"{PMID:Schimmenti 2003:14566649}"	"Patient 1585 in original published report.  Son of family 53; patient 2."	"M"	""	""	""	"0"	""	""	""	""
"00315122"	""	""	""	"1"	""	"03804"	"{PMID:Miyazawa 2009:19954729}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315123"	""	""	""	"1"	""	"03804"	"{PMID:Martinovic-Bouriel 2010:20358591}"	"Patient 1 in original published report.  Fetal autopsy case.  De novo with normal parental sequencing."	"F"	""	""	""	"0"	""	""	""	""
"00315124"	""	""	""	"1"	""	"03804"	"{PMID:Weber 2006:16971658}"	"Patient VIL8 in original published report.  Father has end stage renal disease and optic nerve coloboma."	"F"	""	""	""	"0"	""	""	""	""
"00315125"	""	""	""	"1"	""	"03804"	"{PMID:Sellick 2004:15561999}"	"Individual III-2 in original report. Methods paper with limited clinical data."	"M"	""	""	""	"0"	""	""	""	""
"00315126"	""	""	""	"1"	""	"03804"	"{PMID:Sellick 2004:15561999}"	"Individual III-5 in original report. Methods paper with limited clinical data."	"M"	""	""	""	"0"	""	""	""	""
"00315127"	""	""	""	"1"	""	"03804"	"{PMID:Sellick 2004:15561999}"	"Individual III-6 in original report. Methods paper with limited clinical data."	"M"	""	""	""	"0"	""	""	""	""
"00315128"	""	""	""	"1"	""	"03804"	"{PMID:Selick 2004:15561999}"	"Individual III-8 in original report. Methods paper with limited clinical data."	"M"	""	""	""	"0"	""	""	""	""
"00315129"	""	""	""	"1"	""	"03804"	"{PMID:Sellick 2004:15561999}"	"Individual IV-1 in original report. Methods paper with limited clinical data."	"F"	""	""	""	"0"	""	""	""	""
"00315130"	""	""	""	"1"	""	"03804"	"{PMID:Sellick 2004:15561999}"	"Individual IV-2 in original report. Methods paper with limited clinical data."	"M"	""	""	""	"0"	""	""	""	""
"00315131"	""	""	""	"1"	""	"03804"	"{PMID:Selick 2004:15561999}"	"Individual IV-6 in original publication.  Methods paper with limited clinical data"	"M"	""	""	""	"0"	""	""	""	""
"00315132"	""	""	""	"1"	""	"03804"	"{PMID:Sellick 2004:15561999}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315133"	""	""	""	"1"	""	"03804"	"{PMID:Thomas 2010:21380624}"	"Parents unavailable for analysis, but reported to be asymptomatic."	""	""	""	""	"0"	""	""	""	""
"00315134"	""	""	""	"1"	""	"03804"	"{PMID:Thomas 2011:21380624}"	""	""	""	""	""	"0"	""	""	""	""
"00315135"	""	""	""	"1"	""	"03804"	"{PMID:Sanyanusin 1995:7795640}"	"patient 1 in original published report. Son of family 65; patient 4."	"M"	""	""	""	"0"	""	""	""	""
"00315136"	""	""	""	"1"	""	"03804"	"{PMID:Sanyanusin 1995:7795640}"	"Patient 2 in original published report."	"M"	""	""	""	"0"	""	""	""	""
"00315137"	""	""	""	"1"	""	"03804"	"{PMID:Sanyanusin 1995:7795640}"	"patient 3 in original published report"	"M"	""	""	""	"0"	""	""	""	""
"00315138"	""	""	""	"1"	""	"03804"	"{PMID:Sanyanusin 1995:7795640}"	"Patient 4 in original published report.  Father of family 65; patients 1,2,3"	"M"	""	""	""	"0"	""	""	""	""
"00315139"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	"Individual I-1 in both original published reports."	"M"	""	"Brazil"	""	"0"	""	""	""	""
"00315140"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	"Individual II-5 in 2000 publication; individual II-4 in 2001 publication."	"M"	""	"Brazil"	""	"0"	""	""	""	""
"00315141"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	"Individual II-6 in 2001 publication; individual II-7 in 2000 publication."	"F"	""	""	""	"0"	""	""	""	""
"00315142"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	"Individual II-8 in 2001 publication; individual II-9 in 2000 publication."	"M"	""	"Brazil"	""	"0"	""	""	""	""
"00315143"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	"Individual III-9 in both original published reports."	"M"	""	""	""	"0"	""	""	""	""
"00315144"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	"Individual III-11 in both published reports."	"M"	""	"Brazil"	""	"0"	""	""	""	""
"00315145"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	"Individual III-13 in both published reports."	"F"	""	"Brazil"	""	"0"	""	""	""	""
"00315146"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	"Individual III-16 in both published reports."	"M"	""	"Brazil"	""	"0"	""	""	""	""
"00315147"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	"Individual III-17 in both published reports."	"M"	""	"Brazil"	""	"0"	""	""	""	""
"00315148"	""	""	""	"1"	""	"03804"	"{PMID:Nishimoto 2001:11461952}"	"Patient 2 in original published report."	"F"	""	"Japan"	""	"0"	""	""	""	""
"00315149"	""	""	""	"1"	""	"03804"	"{PMID:Nishimoto 2001:11461952}"	"Patient 1 in original published report"	"M"	""	"Japan"	""	"0"	""	""	""	""
"00315150"	""	""	""	"1"	""	"03804"	"{PMID:Nishimoto 2001:11461952}"	"Mother of patient 1 in original publication.  Mutation confirmed in mother by restriction digest."	"F"	""	"Japan"	""	"0"	""	""	""	""
"00315151"	""	""	""	"1"	""	"03804"	"{PMID:Taranta 2007:17269592}"	"Individual II-3 in original published report."	"F"	""	""	""	"0"	""	""	""	""
"00315152"	""	""	""	"1"	""	"03804"	"{PMID:Taranta 2007:17269592}"	"Individual III-2 in original published report."	"F"	""	""	""	"0"	""	""	""	""
"00315153"	""	""	""	"1"	""	"03804"	"{PMID:Taranta 2007:17269592}"	"Individual III-4 in original published report."	"M"	""	""	""	"0"	""	""	""	""
"00315154"	""	""	""	"1"	""	"03804"	"{PMID:Taranta 2007:17269592}"	"Individual IV-1 in original published report."	"F"	""	""	""	"0"	""	""	""	""
"00315155"	""	""	""	"1"	""	"03804"	"{PMID:Taranta 2007:17269592}"	"Individual IV-2 in original published report."	"M"	""	""	""	"0"	""	""	""	""
"00315156"	""	""	""	"1"	""	"03804"	"{PMID:Martinovic-Bouriel 2010:20358591}"	"Patient 2 in original published report.  Second trimester fetal demise with autopsy."	""	""	""	"0m"	"0"	""	""	""	""
"00315157"	""	""	""	"1"	""	"03804"	"{PMID:Martinovic-Bouriel 2010:20358591}"	"Mother of Patient 2 in original report."	""	""	""	""	"0"	""	""	""	""
"00315158"	""	""	""	"1"	""	"03804"	"{PMID:Martinovic-Bouriel 2010:20358591}"	"Maternal grandfather of patient 2 in original published report."	"M"	""	""	""	"0"	""	""	""	""
"00315159"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Child of family 41; patient 2.  Grandchild of family 41; patient 3"	""	""	""	""	"0"	""	""	""	""
"00315160"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Daughter of family 41; patient 3.  Mother of family 31; patient 1."	"F"	""	""	""	"0"	""	""	""	""
"00315161"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Grandmother of family 41; patient 1.  Mother of family 41; patient 2"	"F"	""	""	""	"0"	""	""	""	""
"00315162"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	""	""	""	""	"0"	""	""	""	""
"00315163"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315164"	""	""	""	"1"	""	"03804"	"{PMID:Choi 2005:15798064},  {PMID:Bower 2012:22213154}"	"De novo with normal parental sequencing.  Renal pathology described in Choi 2005."	"F"	""	""	""	"0"	""	""	""	""
"00315165"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mutation present in 5 affected sibs and affected father.  Mutation absent in 2 unaffected sibs and unaffected mother."	"F"	""	""	""	"0"	""	""	""	""
"00315166"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mutation absent in 2 unaffected sibs and unaffected mother; mutation present in 5 affected sibs and affected father."	"F"	""	""	""	"0"	""	""	""	""
"00315167"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mutation present in 5 affected sibs and affected father.  Mutation absent in 2 unaffected sibs and unaffected mother."	"F"	""	""	""	"0"	""	""	""	""
"00315168"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mutation present in 5 affected sibs and affected father.  Mutation absent in 2 unaffected sibs and unaffected mother."	"F"	""	""	""	"0"	""	""	""	""
"00315169"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mutation present in 5 affected sibs and affected father.  Mutation absent in 2 unaffected sibs and unaffected mother."	"M"	""	""	""	"0"	""	""	""	""
"00315170"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Father of family 48; patients 1-5."	"M"	""	""	""	"0"	""	""	""	""
"00315171"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Two variants detected in cis.  Family studies demonstrate that the p.(Pro130Ser) arose de novo in this patient on an allele containing the p.(Thr164Asn) variant. The p.(Thr164Asn) variant was found on a chromosome without the p.(Pro130Ser) variant in unaffected brother (Family 56; patient 4)."	"F"	""	""	""	"0"	""	""	""	""
"00315172"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Daughter of Family 56; patient 1.  Inherited two missense variants in cis."	"F"	""	""	""	"0"	""	""	""	""
"00315173"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Two missense variants inherited in cis."	"F"	""	""	""	"0"	""	""	""	""
"00315174"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Brother of Family 56; patient 1.  He has paternal chromosome with p.(Thr164Asn) variant, but lacking the p.(Pro130Ser) variant found on the same chromosome in his affected sister."	"M"	""	""	""	"0"	""	""	""	""
"00315175"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Son of family 68; patient 2"	"M"	""	""	""	"0"	""	""	""	""
"00315176"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Father of family 68; patient 1.  Sister has renal failure."	"M"	""	""	""	"0"	""	""	""	""
"00315177"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315178"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"De novo with normal parental sequencing."	"M"	""	""	""	"0"	""	""	""	""
"00315179"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"De novo with normal parental sequencing."	"M"	""	""	""	"0"	""	""	""	""
"00315180"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Parents not available for testing.  Protein consequence depends on multiple reading frames for alternate PAX2 transcripts."	"M"	""	""	""	"0"	""	""	""	""
"00315181"	""	""	""	"1"	""	"03804"	"{PMID:Benetti 2007:17403695}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315182"	""	""	""	"1"	""	"03804"	"{PMID:Narahara 1997:9132492}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315183"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	""	""	""	""	"0"	""	""	""	""
"00315184"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mother of family 7; patient 1"	""	""	""	""	"0"	""	""	""	""
"00315185"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Child of family 7; patient 1"	""	""	""	""	"0"	""	""	""	""
"00315186"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"no reported family history"	""	""	""	""	"0"	""	""	""	""
"00315187"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	""	""	""	""	"0"	""	""	""	""
"00315188"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	""	""	""	""	"0"	""	""	""	""
"00315189"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Child of family 71; patient 2"	""	""	""	""	"0"	""	""	""	""
"00315190"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Parent of family 71; patient 1"	"F"	""	""	""	"0"	""	""	""	""
"00315191"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}, {PMID:Madariaga 2013:23539225}"	"Patient P4 in Madariaga manuscript"	"F"	""	""	""	"0"	""	""	""	""
"00315192"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Patient has both exon 10 variant and c.410+5 G>A variant.  Uncertain if cis or trans. Exon 10 mutation is reported in reference to NM_003988.3 which is the only isoform that contains exon 10."	""	""	""	""	"0"	""	""	""	""
"00315193"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mother of family 47; patient 2.  Grandmother of family 47; patient 3."	"F"	""	""	""	"0"	""	""	""	""
"00315194"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Son of Family 47; patient 1.  Father of family 47; patient 3."	"M"	""	""	""	"0"	""	""	""	""
"00315195"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Grandson of family 47; patient 1.   Son of family 47; patient 2."	"M"	""	""	""	"0"	""	""	""	""
"00315196"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Daughter of family 43; patient 2"	"F"	""	""	""	"0"	""	""	""	""
"00315197"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mother of family 43; patient 1.  Daughter of family 43;patient 3."	""	""	""	""	"0"	""	""	""	""
"00315198"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mother of family 43;patient 2."	""	""	""	""	"0"	""	""	""	""
"00315199"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315200"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315201"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315202"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315203"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Died in accident-no ophthalmological exam."	"M"	""	""	""	"0"	""	""	""	""
"00315204"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	""	""	""	""	"0"	""	""	""	""
"00315205"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315206"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315207"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	""	""	""	""	"0"	""	""	""	""
"00315208"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315209"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315210"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	""	""	""	""	"0"	""	""	""	""
"00315211"	""	""	""	"1"	""	"03804"	"{PMID:Weber 2006:16971658}"	"Patient PRA7 in original publication.  Original publication described mutation as 961G>A(p.Arg140*).  Author corrected information to current notation."	"F"	""	""	""	"0"	""	""	""	""
"00315212"	""	""	""	"1"	""	"03804"	"{PMID:Weber 2006:16971658}"	"Father of family 61; patient 1.  Tested as part of ESCAPE study"	"M"	""	""	""	"0"	""	""	""	""
"00315213"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	""	""	""	""	"0"	""	""	""	""
"00315214"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Father of family 82; patients 2 and 3"	"M"	""	""	""	"0"	""	""	""	""
"00315215"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Son of family 82; patient 1.  Brother of family 82; patient 3."	"M"	""	""	""	"0"	""	""	""	""
"00315216"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Son of family 82; patient 1.  Brother of family 82; patient 2.  Pregnancy with lethal anhydramnios."	"M"	""	""	""	"0"	""	""	""	""
"00315217"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Fetus of family 82; patient 3.  Fetal anhydramnios."	""	""	""	""	"0"	""	""	""	""
"00315218"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	""	""	""	""	"0"	""	""	""	""
"00315219"	""	""	""	"1"	""	"03804"	"{PMID:Ford 2001:11241473}"	"Patient IV-7 in original published report.  Child of family 84; patient 2.  Male sibling had severe renal hypoplasia and olighydramnios prenatally, but not tested for mutation."	"M"	""	"Switzerland;United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00315220"	""	""	""	"1"	""	"03804"	"{PMID:Ford 2001:11241473}"	"Individual III-19 in original publication.  Father of family 84; patient 1.  Two pregnancies with severe oligohydramnios.  Brother to family 84; patient 3."	"M"	""	"Switzerland;United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00315221"	""	""	""	"1"	""	"03804"	"{PMID:Ford 2001:11241473}"	"Individual III-21 in original publication.  Sister to family 84; patient 2."	"F"	""	"Switzerland;United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00315222"	""	""	""	"1"	""	"03804"	"{PMID:Ford 2001:11241473}"	"Individual II-3 in original publication.  Father of family 84; patients 2 and 3."	"M"	""	""	""	"0"	""	""	""	""
"00315223"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315224"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Daughter of Family 86; patient 2"	"F"	""	""	""	"0"	""	""	""	""
"00315225"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Mother of family 86; patient 1"	"F"	""	""	""	"0"	""	""	""	""
"00315226"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Likely polymorphism"	""	""	""	""	"0"	""	""	""	""
"00315227"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Variation identified in unaffected mother of child with microphthalmia.  Affected child did not have variation."	""	""	""	""	"0"	""	""	""	""
"00315228"	""	""	""	"1"	""	"03804"	"{PMID:Bower 2012:22213154}"	"Patient had fetus with multicystic renal dysplasia.  Variant was present in affected fetus and in this unaffected mother."	"F"	""	""	""	"0"	""	""	""	""
"00315229"	""	""	""	"1"	""	"03804"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00315230"	""	""	""	"1"	""	"03804"	"{PMID:Hoefele 2012:22361651}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315231"	""	""	""	"1"	""	"03804"	"{PMID:Gucev 2009:19839859}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315232"	""	""	""	"1"	""	"03804"	"{PMID:Yoshimura 2005:15808183}"	"De novo with normal parental sequencing and normal parental renal and ophthalmological exams."	"F"	""	"Japan"	""	"0"	""	""	""	""
"00315233"	""	""	""	"1"	""	"03804"	"{PMID:Iatropoulos 2012:22660956}"	"Twin 1 in published manuscript"	"F"	""	""	""	"0"	""	""	""	""
"00315234"	""	""	""	"1"	""	"03804"	"{PMID:Iatropoulos 2012:22660956}"	"Twin 2 in published manuscript"	""	""	""	""	"0"	""	""	""	""
"00315235"	""	""	""	"1"	""	"03804"	"{PMID:Laimutus 2012:22581475}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315236"	""	""	""	"1"	""	"03804"	"{PMID:Madariaga 2013:23539225}"	"Patient P2 in manuscript"	"M"	""	""	"0y"	"0"	""	""	""	""
"00315237"	""	""	""	"1"	""	"03804"	"{PMID:Madariaga 2013:23539225}"	"Patient P1 in manuscript"	""	""	""	"0y"	"0"	""	""	""	""
"00315238"	""	""	""	"1"	""	"03804"	"{PMID:Madariaga 2013:23539225}"	"Patient P3 in manuscript"	"F"	""	""	"0y"	"0"	""	""	""	""
"00315239"	""	""	""	"1"	""	"03804"	"{PMID:Madariaga 2013:23539225}"	"Mother of patient P1 in manuscript"	"F"	""	""	""	"0"	""	""	""	""
"00315240"	""	""	""	"1"	""	"03804"	"{PMID:Porteous 2000:10587573}, {PMID:Bower 2012:22213154}"	"Father of patient P2 in manuscript.  No clinical findings, but his father and brother have renal hypoplasia with CKD."	""	""	""	""	"0"	""	""	""	""
"00315241"	""	""	""	"1"	""	"03804"	"{PMID:Madariaga 2013:23539225}"	"Mother of patient P3 in manuscript"	"F"	""	""	""	"0"	""	""	""	""
"00315242"	""	""	""	"1"	""	"03804"	"{PMID:Madariaga 2013:23539225}"	"Father of patient P4 in manuscript.  Carries mutation in mosaic state in blood"	"M"	""	""	""	"0"	""	""	""	""
"00315243"	""	""	""	"1"	""	"03804"	"{PMID:Madariaga 2013:23539225}"	"Patient P5 in published manuscript"	"F"	""	""	"0y"	"0"	""	""	""	""
"00315244"	""	""	""	"1"	""	"03804"	"{PMID:Ohtsubo et al. 2012:22350371}"	"Patient 1 in published manuscript"	"F"	""	"Japan"	""	"0"	""	""	""	""
"00315245"	""	""	""	"1"	""	"03804"	"{PMID:Ohtsubo 2012:22350371}"	"Patient 2 in published manuscript- father died after 4th renal transplant.  He was not tested for familial mutation."	"F"	""	"Japan"	""	"0"	""	""	""	""
"00315246"	""	""	""	"1"	""	"03804"	"{PMID:Megaw 2013:23686327}"	"papillorenal syndrome"	"M"	""	""	""	"0"	""	""	""	""
"00315247"	""	""	""	"1"	""	"03804"	"{PMID:Sato 2013:23966757}"	"Proband (patient III-4) in published report."	"F"	""	"Japan"	""	"0"	""	""	""	""
"00315248"	""	""	""	"1"	""	"03804"	"{PMID:Sato 2013:23966757}"	"Individual III-7 in published report (younger brother of proband)"	"M"	""	"Japan"	""	"0"	""	""	""	""
"00315249"	""	""	""	"1"	""	"03804"	"{PMID:Sato 2013:23966757}"	"Individual II-4 in the published report.  Mother of proband."	"F"	""	"Japan"	""	"0"	""	""	""	""
"00315250"	""	""	""	"1"	""	"03804"	"{PMID:Hwang 2013:24676634}"	"Individual A3148-21 in published report"	"M"	""	""	""	"0"	""	""	"European"	""
"00315251"	""	""	""	"1"	""	"03804"	"{PMID:Hwang 2013:24676634}"	"individual A2334-21 in published report"	"F"	""	""	""	"0"	""	""	"white"	""
"00315252"	""	""	""	"1"	""	"03804"	"{PMID:Hwang 2013:24676634}"	"individual A1087-21 in published report"	""	""	""	""	"0"	""	""	"Eastern European"	""
"00315253"	""	""	""	"1"	""	"03804"	"{PMID:Hwang 2013:24676634}"	"Individual A3872-21 in published report"	"M"	""	"India"	""	"0"	""	""	""	""
"00315254"	""	""	""	"1"	""	"03804"	"{PMID:Hwang 2013:24429398}"	"Individual A1743-12 in manuscript"	"F"	""	""	""	"0"	""	""	"European"	""
"00315255"	""	""	""	"1"	""	"03804"	"{PMID:Hwang 2013:24429398}"	"Individual A1743-21 in publication"	"F"	""	""	""	"0"	""	""	"European"	""
"00315256"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-BF individual IV-2 in published manuscript"	"M"	""	""	""	"0"	""	""	"white"	""
"00315257"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-BF in published manuscript.  Individual III-7 (maternal uncle of proband)"	"M"	""	""	""	"0"	""	""	"white"	""
"00315258"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-BF in published paper.  brother of proband (individual IV-1).  reported to be healthy"	"M"	""	""	""	"0"	""	""	""	""
"00315259"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-BF in published paper.  Individual III-6. Mother of proband and sister to another affected individual.  Has familial variant, but reported healthy."	"F"	""	""	""	"0"	""	""	""	""
"00315260"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Ambiguous in article- called family FG-DO and FG-DG.  Individual III-1 in family DG in supplemental online data.  Family FG-DO in printed article."	"F"	""	"United States"	""	"0"	""	""	"African American"	""
"00315261"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-EQ in publication.  Individual III-8 in published report."	"F"	""	""	""	"0"	""	""	"European"	""
"00315262"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-EQ; Individual III-9 in published report"	"F"	""	""	""	"0"	""	""	""	""
"00315263"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-EQ; Individual III-10 in published report"	"F"	""	""	""	"0"	""	""	""	""
"00315264"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Individual IV-7 in published report"	"M"	""	""	""	"0"	""	""	""	""
"00315265"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315266"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-GE. Supplemental info, individual III-2"	"M"	""	""	""	"0"	""	""	""	""
"00315267"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Individual II-2 in supplemental information pedigree.  Three other affected family members reported, but not tested."	"M"	""	""	""	"0"	""	""	"Middle East"	""
"00315268"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"individual II-1 in supplemental info.  Four other affected family members not tested."	"F"	""	"India"	""	"0"	""	""	"East Indian"	""
"00315269"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Individual II-2 in family FG-KV in published report- supplemental data"	"F"	""	""	""	"0"	""	""	"white"	""
"00315270"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-KV.  Individual III-1 in supplemental data pedigree"	"M"	""	""	""	"0"	""	""	"white"	""
"00315271"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Family FG-KV in publication.  Individual III-3 in supplemental information pedigree."	"M"	""	""	""	"0"	""	""	"white"	""
"00315272"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Individual CKT-11C in published report"	""	""	""	""	"0"	""	""	""	""
"00315273"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Individual CKT34C in published report"	""	""	""	""	"0"	""	""	""	""
"00315274"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Individual CKT35C in publication"	""	""	""	""	"0"	""	""	""	""
"00315275"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Patient CKT39C in published report"	""	""	""	""	"0"	""	""	""	""
"00315276"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Individual CKT46C in published report"	""	""	""	""	"0"	""	""	""	""
"00315277"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Individual CKT-89c in publication"	""	""	""	""	"0"	""	""	""	""
"00315278"	""	""	""	"1"	""	"03804"	"{PMID:Barua 2014:24676634}"	"Individual CKT-54c\r\nNote-discrepancy between HG19 contains 3 bases of DNA not present in NM_03990.3 or NM_03987.3"	""	""	""	""	"0"	""	""	""	""
"00315279"	""	""	""	"1"	""	"03803"	"{PMID:Negrisolo 2018:29973660}"	""	"F"	""	"Italy"	""	"0"	""	""	"Italy"	"patient"
"00315280"	""	""	""	"1"	""	"03804"	"{PMID:Iwafuchi 2016:27226968}"	"Father in published report"	"M"	""	""	""	"0"	""	""	""	""
"00315281"	""	""	""	"1"	""	"03804"	"{PMID:Iwafuchi 2016:27226968}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315282"	""	""	""	"1"	""	"03804"	"{PMID:Iwafuchi 2016:27226968}"	"younger child in published report"	"M"	""	""	""	"0"	""	""	""	""
"00315283"	""	""	""	"1"	""	"03804"	"{PMID:Nicolaou 2016:26489027}"	""	"F"	""	""	""	"0"	""	""	""	""
"00315284"	""	""	""	"1"	""	"03804"	"{PMID:Nicolaou 2016:26489027}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315285"	""	""	""	"1"	""	"03804"	"{PMID:Nicolaou 2016:26489027}"	""	"M"	""	""	""	"0"	""	""	""	""
"00315286"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	"Case1 in published report"	""	""	""	""	"0"	""	""	""	""
"00315287"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	"Case 2 in published report"	"M"	""	""	""	"0"	""	""	""	""
"00315288"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	"Case 3 in published report"	"F"	""	""	""	"0"	""	""	""	""
"00315289"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	"Case 4 in published report"	"F"	""	""	""	"0"	""	""	""	""
"00315290"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	"case 5 in published report"	"F"	""	""	""	"0"	""	""	""	""
"00315291"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	"Case 6 in published report"	""	""	""	""	"0"	""	""	""	""
"00315292"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	"case 7 in published report"	""	""	""	""	"0"	""	""	""	""
"00315293"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	""	""	""	""	""	"0"	""	""	""	""
"00315294"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	"case 9 in published report"	""	""	""	""	"0"	""	""	""	""
"00315295"	""	""	""	"1"	""	"03804"	"{PMID:Okumura et al.,2015:26571382}"	""	""	""	""	""	"0"	""	""	""	""
"00315296"	""	""	""	"1"	""	"03804"	"{PMID:Okumura 2015:26571382}"	"Case 11 in published report"	""	""	""	""	"0"	""	""	""	""
"00315297"	""	""	""	"1"	""	"03804"	"{PMID:Heidet 2017:28566479}"	"Patient K72 in published report"	""	""	""	""	"0"	""	""	""	""
"00315298"	""	""	""	"1"	""	"03804"	"{PMID:Heidet 2017:28566479}"	"Patient K117 in published report"	""	""	""	""	"0"	""	""	""	""
"00315299"	""	""	""	"1"	""	"03804"	"{PMID:Heidet 2017:28566479}, {PMID:Schimmenti 1999}"	"Patient K133 in published report"	""	""	""	""	"0"	""	""	""	""
"00315300"	""	""	""	"1"	""	"03804"	"{PMID:Heidet 2017:28566479}"	"Patient K146 in published report"	""	""	""	""	"0"	""	""	""	""
"00315301"	""	""	""	"1"	""	"03804"	"{PMID:Heidet 2017:28566479}"	"Patient K148 in published report"	""	""	""	""	"0"	""	""	""	""
"00315302"	""	""	""	"1"	""	"03804"	"{PMID:Heidet 2017:28566479}"	"Patient K176 in published report"	""	""	""	""	"0"	""	""	""	""
"00315303"	""	""	""	"1"	""	"03804"	"{PMID:Heidet 2017:28566479}"	"Patient K199 in published report"	""	""	""	""	"0"	""	""	""	""
"00315304"	""	""	""	"1"	""	"03804"	"{PMID:Heidet 2017:28566479}"	"Patient K62 in published report"	""	""	""	""	"0"	""	""	""	""
"00315305"	""	""	""	"1"	""	"03804"	"{PMID:Heidet 2017:28566479}"	"Patient K79 in published report"	""	""	""	""	"0"	""	""	""	""
"00315306"	""	""	""	"1"	""	"03804"	"{PMID:Liu 2018:29054766}"	"Proband in published report"	"F"	""	"China"	""	"0"	""	""	""	""
"00315307"	""	""	""	"1"	""	"03804"	"{PMID:Peltekova 2014:25257335}"	""	""	""	""	""	"0"	""	""	""	""
"00315308"	""	""	""	"1"	""	"03804"	"{PMID:Pfundt 2017:28574513}"	"Patient 64 in published report- no details about phenotype provided beyond \renal disease"	""	""	""	""	"0"	""	""	""	""
"00315309"	""	""	""	"1"	""	"03804"	"{PMID:Galvez-Ruiz 2018:29339962}"	"Patient 1 in published report"	"F"	""	""	""	"0"	""	""	""	""
"00315310"	""	""	""	"1"	""	"03804"	"{PMID:Galvez-Ruiz 2018:29339962}"	"Patient 2 in published report"	"M"	""	""	""	"0"	""	""	""	""
"00315311"	""	""	""	"1"	""	"03804"	"{PMID:Galvez-Ruiz 2018:29339962}"	"Patient 3 in published report.  atypical phenotype with no renal abnormalities. Authors suggest variant could be missense or splice variant."	""	""	""	""	"0"	""	""	""	""
"00327917"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"B240025"
"00328432"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"680966"
"00363348"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM415"
"00363370"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM866"
"00372668"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP397"
"00372677"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"patient"	"M"	""	"China"	""	"0"	""	""	""	"RP236"
"00379445"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379776"	""	""	""	"1"	""	"03508"	""	""	"M"	""	"Korea, South (Republic)"	""	""	""	""	""	"IR_GH_0135"
"00381816"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2014:24154662}"	""	""	""	""	""	"0"	""	""	""	""
"00402842"	""	""	""	"1"	""	"04221"	"{PMID:Reyna-Fabian 2024:38909058}"	"2-generation family, affected daughter/mother"	"F"	"no"	"Mexico"	""	"0"	""	"none"	""	"Pat5"
"00408740"	""	""	""	"1"	""	"03803"	"{DOI:Negrisolo 2023:10.3390/ijms24044165}"	""	"M"	"no"	"Italy"	""	"0"	""	""	"white"	"Pat2"
"00408741"	""	""	""	"2"	""	"03803"	"{DOI:Negrisolo 2023:10.3390/ijms24044165}"	"2 affected twins"	"M"	"no"	"China"	""	"0"	""	""	""	"Pat3/4"
"00414462"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2018:30076350}"	""	"M"	""	"China"	""	"0"	""	""	""	"WHP129"
"00432527"	""	""	""	"1"	""	"03803"	"{DOI:Negrisolo 2023:10.3390/ijms24044165}"	"2-generation family, 1 affected, unaffected non-carrier parents"	"F"	""	"Italy"	""	"0"	""	""	""	"Pat1"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 276
"{{individualid}}"	"{{diseaseid}}"
"00000209"	"01157"
"00050569"	"00198"
"00132981"	"05342"
"00132982"	"05342"
"00315054"	"05862"
"00315055"	"05862"
"00315056"	"05862"
"00315057"	"05862"
"00315058"	"05862"
"00315059"	"05862"
"00315060"	"05862"
"00315061"	"05862"
"00315062"	"05862"
"00315063"	"05862"
"00315064"	"05862"
"00315065"	"05862"
"00315066"	"05862"
"00315067"	"05862"
"00315068"	"05862"
"00315069"	"05862"
"00315070"	"05862"
"00315071"	"05862"
"00315072"	"05862"
"00315073"	"05862"
"00315074"	"05862"
"00315075"	"05862"
"00315076"	"05862"
"00315077"	"05862"
"00315078"	"05862"
"00315079"	"05862"
"00315080"	"05862"
"00315081"	"05862"
"00315082"	"05862"
"00315083"	"05862"
"00315084"	"05862"
"00315085"	"00198"
"00315086"	"05862"
"00315087"	"05862"
"00315088"	"05862"
"00315089"	"05862"
"00315090"	"05862"
"00315091"	"05862"
"00315092"	"05862"
"00315093"	"05862"
"00315094"	"05862"
"00315095"	"05862"
"00315096"	"05862"
"00315097"	"05862"
"00315098"	"05862"
"00315099"	"05862"
"00315100"	"05862"
"00315101"	"05862"
"00315102"	"05862"
"00315103"	"05862"
"00315104"	"05862"
"00315105"	"05862"
"00315106"	"05862"
"00315107"	"05862"
"00315108"	"05862"
"00315109"	"05862"
"00315110"	"05862"
"00315111"	"05862"
"00315112"	"05862"
"00315113"	"05862"
"00315114"	"05862"
"00315115"	"05862"
"00315116"	"05862"
"00315117"	"05862"
"00315118"	"05862"
"00315119"	"05862"
"00315120"	"05862"
"00315121"	"05862"
"00315122"	"05862"
"00315123"	"00198"
"00315124"	"05862"
"00315125"	"05862"
"00315126"	"05862"
"00315127"	"05862"
"00315128"	"05862"
"00315129"	"05862"
"00315130"	"05862"
"00315131"	"05862"
"00315132"	"05862"
"00315133"	"05862"
"00315134"	"05862"
"00315135"	"05862"
"00315136"	"05862"
"00315137"	"05862"
"00315138"	"05862"
"00315139"	"05862"
"00315140"	"05862"
"00315141"	"05862"
"00315142"	"05862"
"00315143"	"05862"
"00315144"	"05862"
"00315145"	"05862"
"00315146"	"05862"
"00315147"	"05862"
"00315148"	"05862"
"00315149"	"05862"
"00315150"	"05862"
"00315151"	"05862"
"00315152"	"05862"
"00315153"	"05862"
"00315154"	"05862"
"00315155"	"05862"
"00315156"	"05862"
"00315157"	"05862"
"00315158"	"05862"
"00315159"	"05862"
"00315160"	"05862"
"00315161"	"05862"
"00315162"	"05862"
"00315163"	"05862"
"00315164"	"05862"
"00315165"	"00198"
"00315166"	"00198"
"00315167"	"00198"
"00315168"	"00198"
"00315169"	"00198"
"00315170"	"00198"
"00315171"	"05862"
"00315172"	"05862"
"00315173"	"05862"
"00315174"	"00000"
"00315175"	"05862"
"00315176"	"05862"
"00315177"	"05862"
"00315178"	"05862"
"00315179"	"05862"
"00315180"	"00198"
"00315181"	"05862"
"00315182"	"05862"
"00315183"	"05862"
"00315184"	"05862"
"00315185"	"05862"
"00315186"	"05862"
"00315187"	"05862"
"00315188"	"05862"
"00315189"	"05862"
"00315190"	"05862"
"00315191"	"05862"
"00315192"	"05862"
"00315193"	"05862"
"00315194"	"05862"
"00315195"	"05862"
"00315196"	"05862"
"00315197"	"05862"
"00315198"	"05862"
"00315199"	"05862"
"00315200"	"05862"
"00315201"	"05862"
"00315202"	"05862"
"00315203"	"05862"
"00315204"	"05862"
"00315205"	"05862"
"00315206"	"05862"
"00315207"	"05862"
"00315208"	"05862"
"00315209"	"05862"
"00315210"	"05862"
"00315211"	"05862"
"00315212"	"05862"
"00315213"	"05862"
"00315214"	"05862"
"00315215"	"05862"
"00315216"	"00000"
"00315217"	"05862"
"00315218"	"05862"
"00315219"	"05862"
"00315220"	"05862"
"00315221"	"05862"
"00315222"	"05862"
"00315223"	"05862"
"00315224"	"05862"
"00315225"	"05862"
"00315226"	"00198"
"00315227"	"00000"
"00315228"	"00000"
"00315229"	"05862"
"00315230"	"05862"
"00315231"	"05862"
"00315232"	"05862"
"00315233"	"05862"
"00315234"	"05862"
"00315235"	"05862"
"00315236"	"05862"
"00315237"	"05862"
"00315238"	"05862"
"00315239"	"05862"
"00315240"	"00000"
"00315241"	"05862"
"00315242"	"00000"
"00315243"	"05862"
"00315244"	"05862"
"00315245"	"05862"
"00315246"	"05862"
"00315247"	"05862"
"00315248"	"05862"
"00315249"	"05862"
"00315250"	"05342"
"00315251"	"05342"
"00315252"	"05342"
"00315253"	"05342"
"00315254"	"05342"
"00315255"	"05342"
"00315256"	"05396"
"00315257"	"05396"
"00315258"	"00000"
"00315259"	"00000"
"00315260"	"05396"
"00315261"	"05396"
"00315262"	"05396"
"00315263"	"05396"
"00315264"	"00198"
"00315265"	"05396"
"00315266"	"05862"
"00315267"	"05396"
"00315268"	"05396"
"00315269"	"05862"
"00315270"	"05862"
"00315271"	"05862"
"00315272"	"05342"
"00315273"	"05342"
"00315274"	"05342"
"00315275"	"05342"
"00315276"	"05342"
"00315277"	"05342"
"00315278"	"05342"
"00315279"	"00134"
"00315280"	"05862"
"00315281"	"05862"
"00315282"	"05862"
"00315283"	"05342"
"00315284"	"05342"
"00315285"	"05342"
"00315286"	"05862"
"00315287"	"05862"
"00315288"	"05862"
"00315289"	"05862"
"00315290"	"05862"
"00315291"	"05862"
"00315292"	"05862"
"00315293"	"05862"
"00315294"	"05862"
"00315295"	"05862"
"00315296"	"05862"
"00315297"	"05862"
"00315298"	"05862"
"00315299"	"05862"
"00315300"	"05862"
"00315301"	"05862"
"00315302"	"05862"
"00315303"	"05862"
"00315304"	"05862"
"00315305"	"05862"
"00315306"	"05862"
"00315307"	"00198"
"00315308"	"05862"
"00315309"	"05862"
"00315310"	"05862"
"00315311"	"00198"
"00327917"	"04214"
"00328432"	"04214"
"00363348"	"04214"
"00363370"	"04214"
"00372668"	"04214"
"00372677"	"04214"
"00379445"	"04214"
"00379776"	"01257"
"00381816"	"04214"
"00402842"	"01257"
"00408740"	"01257"
"00408741"	"01257"
"00414462"	"00198"
"00432527"	"01257"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00134, 00198, 01157, 01257, 04214, 04606, 05342, 05396, 05862
## Count = 276
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000037181"	"00198"	"00050569"	"00006"	"Unknown"	""	"renal dysplasia, optic nerve coloboma, nystagmus, gastroesophageal reflux, global developmental delay"	""	""	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000105742"	"05342"	"00132981"	"00006"	"Familial"	""	"CAKUT, renal agenesis left"	""	""	""	""	""	""	""	""	""	""	""
"0000105743"	"05342"	"00132982"	"00006"	"Unknown"	""	"CAKUT, renal hypoplasia bilateral, cysts; bilateral nervus opticus coloboma, atrial septum defect, obesity"	""	""	""	""	""	""	""	""	""	""	""
"0000238806"	"05862"	"00315054"	"03804"	"Familial"	""	"Bilateral optic nerve colobomas; Unilateral renal agenesis, renal failure; 7y-end stage renal disease; 7y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238807"	"05862"	"00315055"	"03804"	"Familial"	""	"bilateral optic nerve coloboma; Mild chronic renal failure"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238808"	"05862"	"00315056"	"03804"	"Familial, autosomal dominant"	""	"Morning glory anomaly-bilateral; bilateral renal hypoplasia; 10y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238809"	"05862"	"00315057"	"03804"	"Isolated (sporadic)"	""	"Morning glory anomaly-bilateral; renal failure"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238810"	"05862"	"00315058"	"03804"	"Isolated (sporadic)"	""	"Microphthalmia-unilateral; Optic nerve coloboma-unilateral; Renal hypoplasia-bilateral, normal VCUG; kidney renal biopsy: focal segmental glomerulosclerosis, mild mesangial hypercellularity, focal effacement of podocyte foot processes, marked atrophy of tubules, interstitial fibrosis, focal arteriosclerosis."	""	"2m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238811"	"05862"	"00315059"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-bilateral; emmetropia; Renal hypoplasia-bilateral, normal VCUG; 9y-renal transplant"	""	"7y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238812"	"05862"	"00315060"	"03804"	"Isolated (sporadic)"	""	"Developmental delay.  Brain MRI showed enlargement of extra-axial space and delayed myelinization at 4 months.; Optic nerve coloboma-bilateral; nystagmus; esotropia-bilateral; chorioretinal degeneration; Renal hypoplasia-bilateral, echogenic kidneys-bilateral, normal VCUG"	""	"6m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238813"	"05862"	"00315061"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-bilateral; esodeviation; retinal edema; chorioretinal degeneration; Macular telangiectases-bilateral; renal hypoplasia-bilateral, renal cyst-unilateral, normal VCUG; 13y-end stage renal disease; 15y-renal transplant"	""	"7y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238814"	"05862"	"00315062"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-bilateral; nystagmus; bilateral renal hypoplasia"	""	"3y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238815"	"05862"	"00315063"	"03804"	"Isolated (sporadic)"	""	"microphthalmia-bilateral; dysplastic optic nerve-unilateral; retinal degeneration; bilateral renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238816"	"05862"	"00315064"	"03804"	"Isolated (sporadic)"	""	"retinal coloboma-bilateral; bilateral renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238817"	"05862"	"00315065"	"03804"	"Isolated (sporadic)"	""	"Morning glory syndrome; bilateral renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238818"	"05862"	"00315066"	"03804"	"Isolated (sporadic)"	""	"Papillary dysplasia-bilateral; Cystic renal hypoplasia-unilateral"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238819"	"05862"	"00315067"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-bilateral; Cystic renal hypoplasia-unilateral"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238820"	"05862"	"00315068"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-unilateral; hypoplastic optic disc-unilateral; Renal dysplasia-bilateral, renal cyst"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238821"	"05862"	"00315069"	"03804"	"Familial, autosomal dominant"	""	"Hearing impairment; Optic disc dysplasia; Renal dysplasia-bilateral"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238822"	"05862"	"00315070"	"03804"	"Familial"	""	"Optic nerve coloboma; optic disc dysplasia; bilateral renal hypoplasia"	""	"14y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238823"	"05862"	"00315071"	"03804"	"Isolated (sporadic)"	""	"Hearing impairment; Optic nerve coloboma; Multicystic dysplastic kidneys, PUJ obstruction"	""	"10y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238824"	"05862"	"00315072"	"03804"	"Isolated (sporadic)"	""	"Papillary dysplasia; thickening of papilla ; bilateral renal hypoplasia; kidney oligomeganephronia; 5.5y-end stage renal disease"	"4y"	"4y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238825"	"05862"	"00315073"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-bilateral; bilateral renal hypoplasia; kidney oligomeganephronia; 7y-end stage renal disease"	"0y"	"0y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238826"	"05862"	"00315074"	"03804"	"Familial"	""	"soft skin; Optic disc hyopoplasia-bilateral; bilateral opacities of anterior and posterior lens capsule.; bilateral renal hypoplasia; 24y-end stage renal disease"	"19y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238827"	"05862"	"00315075"	"03804"	"Familial, autosomal dominant"	""	"Soft skin; 46,XY karyotype; Esotropia; exophthalmos; Absent optic nerve head-unilateral; bilateral renal hypoplasia; developmental delay; microcephaly; 14y-renal transplant"	"4m"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238828"	"05862"	"00315076"	"03804"	"Familial"	""	"no eye anomalies; Renal hypodysplasia-bilateral"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238829"	"05862"	"00315077"	"03804"	"Isolated (sporadic)"	""	"Hypoplastic superior ear helices; upslanting palpebral fissures; bulbous nose; hyperplastic gingiva.  Hearing loss (unilateral).  46,XX karyotype.; Optic nerve coloboma-bilateral; amblyopia; bilateral renal hypoplasia; focal segmental glomerulosclerosis; 18y-renal transplant"	"3y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238830"	"05862"	"00315078"	"03804"	"Familial"	""	"Soft skin; hyperelasticity; gingival hyperplasia.; Optic nerve coloboma-bilateral; Abnormal retinal pigment epithelium; Renal hypoplasia-bilateral, Echogenic kidneys, Poor corticomedullary differentiation; Chiari malformation type 1; prenatal oligohydramnios, breech presentation.; 3y-renal transplant"	"1m"	"1m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238831"	"05862"	"00315079"	"03804"	"Isolated (sporadic)"	""	"Morning glory anomaly-bilateral; Renal insufficiency, renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238832"	"05862"	"00315080"	"03804"	"Isolated (sporadic)"	""	"Bilateral morning glory anomaly; no kidney problems"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238833"	"05862"	"00315081"	"03804"	"Isolated (sporadic)"	""	"Asymmetric growth retardation.; Optic nerve coloboma (left); Morning glory optic disc (right); Proptosis due to cystic coloboma (left); Bilateral cystic kidneys, bilateral renal dysplasia; axial and peripheral hypotonia; global developmental delay; prenatal oligohydramnios, polycystic kidneys, renal dysplasia noted on 2nd trimester ultrasound; 35w-delivery"	"0m"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238834"	"05862"	"00315082"	"03804"	"Isolated (sporadic)"	""	"Enlarged optic disc-bilateral; Abnormal retinal pigmentation; Multicystic dysplastic kidneys-unilateral, UPJ obstruction-unilateral; prenatal 18w ultrasound right multicystic dysplastic kidney, left hydronephrosis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238835"	"05862"	"00315083"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-bilateral; bilateral renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238836"	"05862"	"00315084"	"03804"	"Familial"	""	"Pulmonary hypoplasia secondary to Potter sequence.; Enlarged optic disc-unilateral; excavated optic disc-unilateral; optic nerve coloboma-bilateral; bilateral renal hypoplasia; prenatal oligohydramnios, potter sequence; 1m-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238837"	"00198"	"00315085"	"03804"	"Familial, autosomal dominant"	""	"Fetal demise.; bilateral renal hypoplasia; kidney dilated collecting duct system, dilated tubules-bilateral; prenatal 18w-anhydramnios"	""	""	""	""	""	""	""	""	""	"fetal potter sequence"	""
"0000238838"	"05862"	"00315086"	"03804"	"Familial, autosomal dominant"	""	"bilateral renal hypoplasia; 19y-end stage renal disease"	"6y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238839"	"05862"	"00315087"	"03804"	"Familial"	""	"cryptorchidism; Optic nerve coloboma-bilateral; retinal detachment; Renal hypoplasia-bilateral, multicystic kidneys, ; 13y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238840"	"05862"	"00315088"	"03804"	"Isolated (sporadic)"	""	"joint laxity; mental retardation; seizures; Optic nerve coloboma-bilateral; Posterior lens luxation; calcified keratopathy; Renal hypoplasia-bilateral, Vesicoureteral reflux"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238841"	"05862"	"00315089"	"03804"	"Isolated (sporadic)"	""	"Umbilical hernia; inguinal hernia; Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, renal tubular acidosis; 5y-end stage renal disease; 7y-renal transplant"	"4m"	"4m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238842"	"05862"	"00315090"	"03804"	"Familial"	""	"Optic nerve coloboma-bilateral; Cystic dysplastic kidney-unilateral, VUR grade II-III-unilateral"	"2m"	"2m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238843"	"05862"	"00315091"	"03804"	"Isolated (sporadic)"	""	"Sensorineural hearing loss-bilateral; Myopia; isotropy; Renal hypodysplasia-bilateral, reflux nepropathy"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238844"	"05862"	"00315092"	"03804"	"Isolated (sporadic)"	""	"renal hypodysplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238845"	"05862"	"00315093"	"03804"	"Familial"	""	"renal hypodysplasia"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238846"	"05862"	"00315094"	"03804"	"Familial, autosomal dominant"	""	"4th and 5th digit clinodactyly; Optic nerve coloboma-bilateral; nystagmus; esotropia; vesicoureteral reflux"	""	"5y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238847"	"05862"	"00315095"	"03804"	"Isolated (sporadic)"	""	"bilateral optic nerve coloboma; Renal cysts"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238848"	"05862"	"00315096"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-bilateral; bilateral renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238849"	"05862"	"00315097"	"03804"	"Familial"	""	"Hearing impairment; Renal hypoplasia-bilateral, Vesico Ureteral reflux"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238850"	"05862"	"00315098"	"03804"	"Familial"	""	"Optic nerve coloboma-bilateral; Renal hypoplasias-bilateral; 20y-end stage renal disease"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238851"	"05862"	"00315099"	"03804"	"Isolated (sporadic)"	""	"46,XY karyotype.  Apparently de novo.; Optic nerve coloboma-bilateral; retinal coloboma-bilateral; bilateral renal hypoplasia; 9y-abnormal EEG with clonic seizures; 2y-end stage renal disease"	"3m"	"3m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238852"	"05862"	"00315100"	"03804"	"Isolated (sporadic)"	""	"Hearing loss-bilateral sensorineural and conductive; Optic nerve coloboma-bilateral; renal hypoplasia-bilateral, medullary sponge kidney, pyelonephritis; kidney medullary sponge kidney; 29y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238853"	"05862"	"00315101"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, Vesicoureteral reflux-bilateral grade II-III, UPJ obstruction-unilateral; 14y-end stage renal disease"	"3y"	"3y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238854"	"05862"	"00315102"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; Stable chronic renal impairment, proteinuria"	"18y"	"18y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238855"	"05862"	"00315103"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; bilateral renal hypoplasia; prenatal bilateral renal hypoplasia"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238856"	"05862"	"00315104"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-unilateral ; Renal hypoplasia-bilateral, renal dysplasia-bilateral; prenatal bilateral renal hypoplasia"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238857"	"05862"	"00315105"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-unilateral; Renal hypoplasia-unilateral, Multicystic dysplastic kidney-unilateral; prenatal renal hypoplasia-unilateral, multicystic dysplastic kidney-unilateral"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238858"	"05862"	"00315106"	"03804"	"Familial, autosomal dominant"	""	"polydactyly; VSD; Optic nerve coloboma-bilateral; foveal hypoplasia; horizontal nystagmus; Renal malrotation, Anomalous renal pelves"	"34y"	"34y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238859"	"05862"	"00315107"	"03804"	"Isolated (sporadic)"	""	"Optic disc dysplasia-bilateral; macular atrophy-unilateral; renal failure; 36y-end stage renal disease; 36y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238860"	"05862"	"00315108"	"03804"	"Isolated (sporadic)"	""	"Optic disc dysplasia-bilateral; papillomacular serous detachment; cystic degeneration of macular; vesicoureteral reflux"	"9y"	"9y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238861"	"05862"	"00315109"	"03804"	"Familial, autosomal dominant"	""	"excavation of optic disc-bilateral; Cilioretinal vessels-bilateral; abnormal patterning of retinal vessels.; Decreased renal function, proteinuria"	""	"70y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238862"	"05862"	"00315110"	"03804"	"Familial, autosomal dominant"	""	"Optic disc dysplasia; Peripapillary atrophy; abnormal retinal vessels; bilateral renal hypoplasia; kidney thin cortex, hypoplastic papillae, cortical cysts, medullary cysts; 32y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238863"	"05862"	"00315111"	"03804"	"Familial, autosomal dominant"	""	"Cilioretinal vessels-bilateral; abnormal retinal vessels; Renal hypoplasia-bilateral, proteinuria; kidney hypertrophic glomeruli, atrophic tubules, hypertrophic tubules"	""	"16y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238864"	"05862"	"00315112"	"03804"	"Familial, autosomal dominant"	""	"Optic disc excavation-unilateral; Optic pit; Cilioretinal vessels-bilateral; abnormal retinal vessels; maculopathy; bilateral renal hypoplasia; 33y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238865"	"05862"	"00315113"	"03804"	"Familial, autosomal dominant"	""	"Abnormal retinal vessels;Maculopathy; amblyopia; optic pit; renal failure; kidney hypoplastic cortex, hypoplastic medulla, 2-5 layers of obsolete glomeruli, cortical cysts, atrophic tubules, hypertrophic tubules; 22y-end stage renal disease"	"4y"	"4y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238866"	"05862"	"00315114"	"03804"	"Familial, autosomal dominant"	""	"Optic disc dysplasia-bilateral; Decreased renal function, proteinuria"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238867"	"05862"	"00315115"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; myopia; Renal agenesis-unilateral"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238868"	"05862"	"00315116"	"03804"	"Familial"	""	"Optic nerve coloboma-bilateral; chorioretinal coloboma; Renal insufficiency, renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238869"	"05862"	"00315117"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-bilateral; nystagmus; renal hypoplasia-bilateral, increased parenchymal echogenicity by ultrasound, cystic lesion in one kidney, normal VCUG; 10y-end stage renal disease; 10y-renal transplant"	"1y"	"1y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238870"	"05862"	"00315118"	"03804"	"Isolated (sporadic)"	""	"Excavation of optic disc-unilateral; Morning glory anomaly-unilateral; Macular detachment-bilateral; Renal hypoplasia-bilateral, vesicoureteral reflux-bilateral"	"2m"	"19y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238871"	"05862"	"00315119"	"03804"	"Familial"	""	"Hearing loss; Optic nerve atrophy; Retinal pigment epithelium thinning; abnormal retinal vessels; Nephritis; 60y-renal transplant"	"19y"	"60y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238872"	"05862"	"00315120"	"03804"	"Familial, autosomal dominant"	""	"high frequency hearing loss; Optic disc dysgenesis; enlarged optic disc; excavated optic disc; abnormal retinal vessels; Nephritis; kidney chronic tubular interstitial disease.; 25y-renal transplant"	""	"20y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238873"	"05862"	"00315121"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve dysplasia-bilateral; nystagmus; enlarged optic disc; gliotic material in optic disc; nystagmus; Normal renal function at age 3; Tourette syndrome"	"8m"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238874"	"05862"	"00315122"	"03804"	"Familial"	""	"Optic nerve coloboma-bilateral; Proteinuria, renal failure; developmental delay; prenatal glomerular enlargement; collapse of glomerular capillaries; mesangial matrix expansion, tubulointerstitial change; 12y-end stage renal disease"	"7y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238875"	"00198"	"00315123"	"03804"	"Isolated (sporadic)"	""	"brachymesophalangia of 5th fingers.; Optic nerve coloboma-bilateral; Hypoplastic right kidney, hypoplastic cystic left kidney.; kidney oligomeganephronia, absent corticomedullary differentiation, parenchymal cysts, ; prenatal suspected bilateral renal agenesis by 2nd trimester ultrasound, anhydramnios"	""	""	""	""	""	""	""	""	""	"fetal potter sequence"	""
"0000238876"	"05862"	"00315124"	"03804"	"Familial, autosomal dominant"	""	"Optic disc hypoplasia-bilateral; multicystic dysplastic kidneys"	""	"11y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238877"	"05862"	"00315125"	"03804"	"Familial, autosomal dominant"	""	"renal dysplasia"	""	""	""	""	""	""	""	""	""	"renal dysplasia"	""
"0000238878"	"05862"	"00315126"	"03804"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"renal dysplasia"	""
"0000238879"	"05862"	"00315127"	"03804"	"Familial, autosomal dominant"	""	"renal dysplasia"	""	""	""	""	""	""	""	""	""	"renal dysplasia"	""
"0000238880"	"05862"	"00315128"	"03804"	"Familial, autosomal dominant"	""	"renal dysplasia"	""	""	""	""	""	""	""	""	""	"renal dysplasia"	""
"0000238881"	"05862"	"00315129"	"03804"	"Familial, autosomal dominant"	""	"renal dysplasia"	""	""	""	""	""	""	""	""	""	"renal dysplasia"	""
"0000238882"	"05862"	"00315130"	"03804"	"Familial, autosomal dominant"	""	"renal dysplasia"	""	""	""	""	""	""	""	""	""	"renal dysplasia"	""
"0000238883"	"05862"	"00315131"	"03804"	"Familial, autosomal dominant"	""	"renal dysplasia"	""	""	""	""	""	""	""	""	""	"renal dysplasia"	""
"0000238884"	"05862"	"00315132"	"03804"	"Familial, autosomal dominant"	""	"renal dysplasia"	""	""	""	""	""	""	""	""	""	"renal dysplasia"	""
"0000238885"	"05862"	"00315133"	"03804"	"Familial"	""	"Bilateral optic disc excavation; renal hypoplasia, renal failure; kidney renal hypoplastic oligomeganephronia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238886"	"05862"	"00315134"	"03804"	"Familial"	""	"renal hypodysplasia"	""	""	""	""	""	""	""	""	""	"renal hypodysplasia"	""
"0000238887"	"05862"	"00315135"	"03804"	"Familial, autosomal dominant"	""	"Short stature. 46,XY karyotype.; Optic nerve coloboma-bilateral; myopia; strabismus; nystagmus; Vesicoureteral reflux-bilateral, renal hypoplasia-bilateral; 15y-end stage renal disease"	"18m"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238888"	"05862"	"00315136"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; Vesicoureteral reflux-bilateral, renal hypoplasia-bilateral, poor corticomedullary differentiation"	""	"10y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238889"	"05862"	"00315137"	"03804"	"Familial, autosomal dominant"	""	"short stature; optic nerve coloboma-bilateral; enlarged optic disc-bilateral; renal hypoplasia-bilateral, echogenic kidneys, Poor corticomedullary differentiation, vesicoureteral reflux; 32w-pre-term delivery; 1y-renal transplant"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238890"	"05862"	"00315138"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-bilateral; Normal renal ultrasound, mild renal insufficiency"	""	"35y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238891"	"05862"	"00315139"	"03804"	"Familial"	""	"Hearing loss-unilateral; Excavation of optic disc-unilateral; optic nerve coloboma-unilateral; Elevated serum creatinine, normal renal ultrasound"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238892"	"05862"	"00315140"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; peripalliary choroiditis; Renal hypoplasia-bilateral, Echogenic cortices"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238893"	"05862"	"00315141"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; Normal renal ultrasound, normal renal function"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238894"	"05862"	"00315142"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; Nephrolithiasis-bilateral, single functioning kidney"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238895"	"05862"	"00315143"	"03804"	"Familial, autosomal dominant"	""	"Optic disc dysplasia-bilateral; altered origin of papillary vessels.; Normal renal ultrasound, normal renal function"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238896"	"05862"	"00315144"	"03804"	"Familial, autosomal dominant"	""	"Profound bilateral excavation of the optic nerve; Normal renal ultrasound, normal renal function"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238897"	"05862"	"00315145"	"03804"	"Familial, autosomal dominant"	""	"Horizontal nystagmus; hypoplastic colobomatous optic papillae; hyperpigmented macula; rarefied RPE; Bilateral renal atrophy, cystic kidneys, cortical hyperechogenicity, no medullary differentiation."	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238898"	"05862"	"00315146"	"03804"	"Familial, autosomal dominant"	""	"Bilateral optic nerve pits; abundant fibroglial tissue.; vesicoureteral reflux"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238899"	"05862"	"00315147"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; retinal detachment; rarefied RPE; Renal hypoplasia-bilateral, echogenic cortices, ; 7y-end stage renal disease; 7y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238900"	"05862"	"00315148"	"03804"	"Isolated (sporadic)"	""	"Optic disc hypoplasia-unilateral; bilateral renal hypoplasia"	"1m"	"4y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238901"	"05862"	"00315149"	"03804"	"Familial, autosomal dominant"	""	"no eye anomalies; Renal hypoplasia-bilateral, Vesicoureteral reflux-bilateral; 7y-end stage renal disease"	"3m"	"8y"	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238902"	"05862"	"00315150"	"03804"	"Isolated (sporadic)"	""	"no eye anomalies; bilateral renal hypoplasia; 8y-end stage renal disease"	"3y"	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238903"	"05862"	"00315151"	"03804"	"Isolated (sporadic)"	""	"optic nerve coloboma-bilateral; Horseshoe kidney"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238904"	"05862"	"00315152"	"03804"	"Familial, autosomal dominant"	""	"no eye anomalies; bilateral renal hypoplasia; 10y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238905"	"05862"	"00315153"	"03804"	"Familial, autosomal dominant"	""	"bilateral optic nerve coloboma; bilateral renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238906"	"05862"	"00315154"	"03804"	"Familial, autosomal dominant"	""	"bilateral optic nerve coloboma; bilateral renal hypoplasia"	""	"7y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238907"	"05862"	"00315155"	"03804"	"Familial, autosomal dominant"	""	"bilateral optic nerve coloboma; bilateral renal hypoplasia"	""	"5y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238908"	"05862"	"00315156"	"03804"	"Familial, autosomal dominant"	""	"optic nerve coloboma; Bilateral renal hypoplasia.; kidney poor distribution of bellini columns, dilated cortical tubules.; prenatal renal hypoplasia. prenatal diagnosis"	"0m"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238909"	"05862"	"00315157"	"03804"	"Familial, autosomal dominant"	""	"Retinal coloboma; macular detachment; chronic renal disease; 17y-end stage renal disease; 19y-renal transplant"	"17y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238910"	"05862"	"00315158"	"03804"	"Familial, autosomal dominant"	""	"Retinal coloboma; macular detachment; renal failure; 25y-end stage renal disease; 29y-renal transplant"	"25y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238911"	"05862"	"00315159"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; bilateral renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238912"	"05862"	"00315160"	"03804"	"Familial, autosomal dominant"	""	"Short stature; Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, Echogenic cortices; kidney thin cortex"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238913"	"05862"	"00315161"	"03804"	"Isolated (sporadic)"	""	"Optic nerve coloboma-unilateral; renal failure"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238914"	"05862"	"00315162"	"03804"	"Familial"	""	"no eye anomalies; Renal hypoplasia-bilateral, renal failure; kidney oligomeganephronia with hypoplastic kidneys. em showed collapsed glomerular tufts with thickening of the glomerular basement membrane, atrophic sparse mesangial cells; 6y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238915"	"05862"	"00315163"	"03804"	"Familial"	""	"Enlarged cisterna magna; atrial septal defect; Optic nerve coloboma-unilateral; enlarged optic disc-unilateral; Multicystic dysplastic kidney-unilateral, Renal hypoplasia-unilateral; prenatal multicystic dysplastic kidney-unilateral, cerebral ventriculmegaly"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238916"	"05862"	"00315164"	"03804"	"Isolated (sporadic)"	""	"Optic disc dysplasia-unilateral; fibrosis of optic nerve-unilateral; renal teratoma-unilateral, lack of corticomedullary distinction-unilateral, renal failure; kidney intrarenal teratoma consisting of ectodermal and mesodermal components.  remaining renal parenchyma normal."	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238917"	"00198"	"00315165"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; enlarged optic disc; optic pits; photophobia; no kidney problems"	""	"13y"	""	""	""	""	""	""	""	"optic nerve disease, no renal findings"	""
"0000238918"	"00198"	"00315166"	"03804"	"Familial, autosomal dominant"	""	"Enlargement of optic disc-bilateral"	""	"15y"	""	""	""	""	""	""	""	"isolated optic disc disease, no renal findings"	""
"0000238919"	"00198"	"00315167"	"03804"	"Familial, autosomal dominant"	""	"Mild morning glory syndrome-bilateral; photophobia"	""	"12y"	""	""	""	""	""	""	""	"isolated optic disc disease, no renal findings"	""
"0000238920"	"00198"	"00315168"	"03804"	"Familial, autosomal dominant"	""	"Abnormal optic nerves with large excavated cups; abnormal vasculature."	""	"8y"	""	""	""	""	""	""	""	"isolated optic disc disease, no renal findings"	""
"0000238921"	"00198"	"00315169"	"03804"	"Familial, autosomal dominant"	""	"optic nerve coloboma-bilateral; photophobia; esotropia"	""	""	""	""	""	""	""	""	""	"isolated optic disc disease, no renal findings"	""
"0000238922"	"00198"	"00315170"	"03804"	"Familial"	""	"Enlarged optic discs-bilateral"	""	""	""	""	""	""	""	""	""	"isolated optic disc disease, no renal findings"	""
"0000238923"	"05862"	"00315171"	"03804"	"Isolated (sporadic)"	""	"abnormal lrft optic disc; Reflux Nephropathy complicated by focal glomerulosclerosis ; 20y-end stage renal disease"	"20y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238924"	"05862"	"00315172"	"03804"	"Familial, autosomal dominant"	""	"Bilateral abnormal optic discs.; Normal renal function"	""	"20y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238925"	"05862"	"00315173"	"03804"	"Familial, autosomal dominant"	""	"Unilateral optic nerve coloboma; horizontal nystagmus.; Renal dysplasia-bilateral."	"2y"	"2y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238926"	"00000"	"00315174"	"03804"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000238927"	"05862"	"00315175"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, renal failure"	""	"15y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238928"	"05862"	"00315176"	"03804"	"Familial"	""	"Optic nerve coloboma-bilateral; Renal hypoplasia-bilateral, renal failure"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238929"	"05862"	"00315177"	"03804"	"Familial"	""	"Patient and spouse had pregnancy with lethal fetal renal agenesis.  Fetus not tested for mutation.; Optic nerve coloboma-bilateral; renal hypoplasia-unilateral, renal dysplasia-unilateral; 13y-end stage renal disease; 13y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238930"	"05862"	"00315178"	"03804"	"Isolated (sporadic)"	""	"Mild conductive hearing loss;   constipation; torticollis; easy bruising, GE reflux; asthma; positional plagiocephaly.; Bilateral optic nerve coloboma; strabismus; nasolacrimal duct stenosis; Small echogenic kidneys, grade II vesicoureteral reflux, chronic renal insufficiency; MRI delayed myelination; developmental delay; prenatal mild oligohydramnios and renal hypoplasia on ultrasound; 35w-delivery"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238931"	"05862"	"00315179"	"03804"	"Isolated (sporadic)"	""	"Bilateral optic nerve coloboma; right proptosis; right exotropia.; Renal hypoplasia with echogenic cortices. 4mm cyst in right upper pole.  2mm and 3mm cysts in left kidney.; prenatal unilateral renal pelvis cyst"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238932"	"00198"	"00315180"	"03804"	"Familial"	""	"Bilateral large chorioretinal colobomas; bilateral optic nerve colobomas; unilateral microphthalmia; Normal renal ultrasound"	"1y"	"1y"	""	""	""	""	""	""	""	"isolated optic disc disease, no renal findings"	""
"0000238933"	"05862"	"00315181"	"03804"	"Isolated (sporadic)"	""	"no eye anomalies; renal hypoplasia-unilateral, poor corticomedullary differentiation-unilateral, echogenic cortices; hypotonia; prenatal oligohydramnios, poorly visualized kidneys on ultrasound; 35w-delivery; 1m-end stage renal disease"	"1m"	"5m"	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238934"	"05862"	"00315182"	"03804"	"Isolated (sporadic)"	""	"Bilateral optic nerve colobomas; strabismus; nystagmus; Proteinuria at age 5, normal renal u/s, normal VCUG.; kidney atrophy of proximal and distal renal tubules, interstitial fibrosis, focal segmental glomerular sclerosis."	"0m"	"5y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238935"	"05862"	"00315183"	"03804"	"Isolated (sporadic)"	""	"normal fundus; bilateral renal hypoplasia, normal renal function age 2; prenatal bilateral renal hypoplasia"	"0m"	"0m"	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238936"	"05862"	"00315184"	"03804"	"Isolated (sporadic)"	""	"bilateral renal hypoplasia; optic nerve coloboma-unilateral (right); 23y-end stage renal disease; 25y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238937"	"05862"	"00315185"	"03804"	"Familial, autosomal dominant"	""	"excavated papilla bilateral + left colobomatous slit; medullar and cortical cysts (one large and septated), CRF (creatinine 120microM)"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238938"	"05862"	"00315186"	"03804"	"Familial"	""	"bilateral optic nerve coloboma; hypoplasia, vesicoureteral reflux, renal cyst; 5y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238939"	"05862"	"00315187"	"03804"	"Familial"	""	"Morning glory syndrome; bilateral renal hypodysplasia; 9y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238940"	"05862"	"00315188"	"03804"	"Familial"	""	"bilateral optic nerve coloboma; bilateral renal hypodysplasia. Cortical cysts in one kidney.Bilateral reflux; prenatal renal hypoplasia; 1m-end stage renal disease"	"0m"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238941"	"05862"	"00315189"	"03804"	"Familial, autosomal dominant"	""	"Unilateral optic nerve coloboma; Severe renal hypoplasia; kidney severe renal hypoplasia.  no evidence for dysplasia.; prenatal olighydramnios and suspected bilateral renal agenesis by 2nd trimester ultrasound."	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238942"	"05862"	"00315190"	"03804"	"Familial, autosomal dominant"	""	"Unicornate uterus.; vesico-ureteral reflux, renal hypoplasia.; 26y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238943"	"05862"	"00315191"	"03804"	"Familial, autosomal dominant"	""	"kidney nearly complete absence of nephrogenesis despite normal growth and branching of collecting ducts and abundant mesenchymal blastema. (unusual histology); prenatal severe bilateral hypoplasia identified by 2nd trimester ultrasound"	"0m"	"0m"	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238944"	"05862"	"00315192"	"03804"	"Familial"	""	"bilateral optic nerve coloboma; bilateral renal hypoplasia; 14y-end stage renal disease; 16y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238945"	"05862"	"00315193"	"03804"	"Familial"	""	"Bilateral morning glory anomaly; Renal hypoplasia.  Chronic renal failure"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238946"	"05862"	"00315194"	"03804"	"Familial, autosomal dominant"	""	"Optic nerve dysplasia (papilloedema); Bilateral renal hypoplasia, end stage renal failure"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238947"	"05862"	"00315195"	"03804"	"Familial, autosomal dominant"	""	"Hypospadias; renal dysplasia + vesico ureteral reflux; kidney renal biopsy demonstrates glomerulonephritis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238948"	"05862"	"00315196"	"03804"	"Familial, autosomal dominant"	""	"pigmented dots on one shoulder; papilary coloboma; bilateral renal hypodysplasia; 17y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238949"	"05862"	"00315197"	"03804"	"Familial, autosomal dominant"	""	"unilateral papillary coloboma; bilateral renal hypodysplasia; 35y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238950"	"05862"	"00315198"	"03804"	"Familial"	""	"50y-renal failure; 50y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238951"	"05862"	"00315199"	"03804"	"Familial, autosomal dominant"	""	"normal fundus; bilateral hypodysplasia. pyeloureteral duplication unilateral. Normal renal function at 3y."	""	""	""	""	""	""	""	""	""	"renal hypodysplasia"	""
"0000238952"	"05862"	"00315200"	"03804"	"Familial, autosomal dominant"	""	"small papilla with edges not well defined. Three microcoloboma at the temporal part of one retina.; bilateral hypodysplasia. Normal renal function at 30y."	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238953"	"05862"	"00315201"	"03804"	"Familial, autosomal dominant"	""	"small papilla with edges not well defined. One microcoloboma at the peripheral part of one retina.; hypodysplasia.Chronic renal failure"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238954"	"05862"	"00315202"	"03804"	"Familial, autosomal dominant"	""	"small coloboma at the temporal side of one retina; Chronic renal failure; 36y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238955"	"05862"	"00315203"	"03804"	"Familial, autosomal dominant"	""	"renal failure; 12y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal failure"	""
"0000238956"	"05862"	"00315204"	"03804"	"Familial, autosomal dominant"	""	"renal failure; 19y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal failure"	""
"0000238957"	"05862"	"00315205"	"03804"	"Familial, autosomal dominant"	""	"Renal hypoplasia, vesico-ureteral reflux"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238958"	"05862"	"00315206"	"03804"	"Familial, autosomal dominant"	""	"60y-renal failure; 60y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal failure"	""
"0000238959"	"05862"	"00315207"	"03804"	"Familial, autosomal dominant"	""	"renal failure; 79y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal failure"	""
"0000238960"	"05862"	"00315208"	"03804"	"Familial, autosomal dominant"	""	"Unilateral renal hypodysplasia.  Vesico-ureteral reflux"	""	""	""	""	""	""	""	""	""	"renal hypodysplasia"	""
"0000238961"	"05862"	"00315209"	"03804"	"Familial, autosomal dominant"	""	"bilateral hypodysplasia and chronic renal failure; 51y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal hypodysplasia"	""
"0000238962"	"05862"	"00315210"	"03804"	"Familial, autosomal dominant"	""	"Unilateral renal hypodysplasia with vesicoureteral reflux.; 19y-end stage renal disease; 20y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal hypodysplasia"	""
"0000238963"	"05862"	"00315211"	"03804"	"Unknown"	""	"no ocular phenotype; Unilateral renal hypoplasia (L), unilateral noncystic renal dysplasia (R)"	""	"16y"	""	""	""	""	""	""	""	"renal hypodysplasia"	""
"0000238964"	"05862"	"00315212"	"03804"	"Familial"	""	"Optic nerve coloboma; End stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238965"	"05862"	"00315213"	"03804"	"Isolated (sporadic)"	""	"Unilateral optic nerve coloboma; Chronic renal failure, unilateral echogenic kidney, unilateral renal cyst"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238966"	"05862"	"00315214"	"03804"	"Familial"	""	"Moderate renal insufficiency"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238967"	"05862"	"00315215"	"03804"	"Familial, autosomal dominant"	""	"normal ophthalmological exam; renal hypoplasia; 6y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238968"	"00000"	"00315216"	"03804"	"Familial, autosomal dominant"	""	"normal ophthalmological exam; no kidney problems"	""	""	""	""	""	""	""	""	""	"no clinical phenotype"	""
"0000238969"	"05862"	"00315217"	"03804"	"Familial, autosomal dominant"	""	"Optic disc dysplasia by autopsy; Severe renal hypoplasia, fetal anhydramnios.; prenatal anhydramnios; severe bilateral renal hypoplasia"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238970"	"05862"	"00315218"	"03804"	"Familial"	""	"Normal newborn hearing screen.; Bilateral retinal colobomas.; Bilateral renal hypodysplasia, hypercalcemia, bilateral vesicoureteral reflux; prenatal bilateral renal hypoplasia; 7y-renal transplant"	""	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238971"	"05862"	"00315219"	"03804"	"Familial, autosomal dominant"	""	"Optic disc hyperplasia; optic nerve coloboma; abnormal retinal pigment; retinal staphyloma.; renal hypodysplasia-bilateral, vesicoureteral reflux; prenatal 18w-renal hypoplasia, oligohydramnios"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238972"	"05862"	"00315220"	"03804"	"Familial, autosomal dominant"	""	"Morning glory anomaly-bilateral; vesicoureteral reflux; kidney oligonephric hypoplasia; 23y-end stage renal disease; 28y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238973"	"05862"	"00315221"	"03804"	"Familial, autosomal dominant"	""	"abnormal optic discs; bilateral renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238974"	"05862"	"00315222"	"03804"	"Familial"	""	"normal ophthalmological exam; Impaired renal function with renal failure; 60y-end stage renal disease; 62y-renal transplant"	"30y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238975"	"05862"	"00315223"	"03804"	"Familial"	""	"Unilateral hearing loss (left); Unilateral microphthalmia (left); Unilateral morning glory anomaly (left); unilateral optic nerve coloboma (right).; Hypoplastic kidneys.  ; 6y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238976"	"05862"	"00315224"	"03804"	"Familial, autosomal dominant"	""	"Bilateral optic nerve coloboma; unilateral retinal degeneration (right); Bilateral renal hypoplasia with renal insufficiency"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238977"	"05862"	"00315225"	"03804"	"Familial"	""	"bilateral optic nerve coloboma; renal failure; 50y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238978"	"00198"	"00315226"	"03804"	"Familial"	""	"chorioretinal coloboma"	""	""	""	""	""	""	""	""	""	"chorioretinal coloboma"	""
"0000238979"	"00000"	"00315227"	"03804"	"Unknown"	""	"no eye anomalies; no kidney problems"	""	""	""	""	""	""	""	""	""	""	""
"0000238980"	"00000"	"00315228"	"03804"	"Unknown"	""	"no kidney problems"	""	""	""	""	""	""	""	""	""	""	""
"0000238981"	"05862"	"00315229"	"03804"	"Familial"	""	"Bilateral optic nerve colobomas; bilateral renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238982"	"05862"	"00315230"	"03804"	"Isolated (sporadic)"	""	"Undescended testes, unilateral cleft lip, agenesis of the corpus callosum, pes calcaneus, ; reduced visual acuity, hypotropia, optic nerve hypoplasia, absent optic chiasm; Echogenic renal parenchyma, multicystic kidneys, bilateral renal hypoplasia, posterior urethral valves, VUR; absent optic chiasm, agenesis of the corpus callosum; 4y-end stage renal disease"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238983"	"05862"	"00315231"	"03804"	"Familial"	""	"Atrial septal defect; soft skin; joint hyper mobility; Bilateral microphthalmos; Unilateral excavation of optic disc; unilateral morning glory anomaly; optic nerve coloboma; Right orbital retrobulbar cystic mass.; unilateral multicystic dysplastic kidney, Unilateral hypoplastic kidney, Vesicoureteral reflux; prenatal unilateral multicystic kidney"	"0m"	"0m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238984"	"05862"	"00315232"	"03804"	"Isolated (sporadic)"	""	"Bilateral morning glory optic disc; bilateral optic nerve coloboma; bilateral renal hypoplasia"	"3y"	"3y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238985"	"05862"	"00315233"	"03804"	"Isolated (sporadic)"	""	"joint laxity, skin hyper extensibility; normal dilated eye exam; Right multi cystic kidney, :Left hyperechogenic kidney with poor corticomedullary differentiation; prenatal right multi cystic kidney"	"0m"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238986"	"05862"	"00315234"	"03804"	"Isolated (sporadic)"	""	"normal audiogram; skin hyper extensibility; joint laxity; Left optic nerve coloboma; complete loss of vision in left eye, normal right eye; hyperechoic renal pyramids at birth, Normal renal structure on ultrasound at age 20, proteinuria"	"0m"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238987"	"05862"	"00315235"	"03804"	"Isolated (sporadic)"	""	"Bilateral hearing loss, abnormal ear helices; Right optic nerve dysplasia, excavation of optic disc.  Left eye normal; Proteinuria age 1.  Hypoplastic hyperechoic kidneys.; kidney the renal biopsy identified ten enlarged glomeruli and signs of secondary segmental and focal glomerulosclerosis; 1y-end stage renal disease"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238988"	"05862"	"00315236"	"03804"	"Familial, autosomal dominant"	""	"Focal retinal dysplasia; Bilateral renal hypoplasia with cortical tubular microcysts; kidney bilateral severe renal dysplasia with cortical microcysts; prenatal 19w ultrasound bilateral hyperechogenic kidneys"	"0y"	"0y"	""	""	""	""	""	""	""	"renal hypolasia (prenatal diagnosis)"	""
"0000238989"	"05862"	"00315237"	"03804"	"Familial"	""	"Prenatal onset renal hypoplasia; bilateral renal hypoplasia; prenatal anhydramnios and bilateral renal hypoplasia (<2SD) at 16 week ultrasound"	"0y"	"0y"	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000238990"	"05862"	"00315238"	"03804"	"Familial, autosomal dominant"	""	"Prenatal onset renal hypoplasia; Focal retinal dysplasia; bilateral renal hypoplasia; prenatal 20w ultrasound bilateral renal hypoplasia, oligohydramnios"	"0y"	"0y"	""	""	""	""	""	""	""	"renal hypolasia (prenatal diagnosis)"	""
"0000238991"	"05862"	"00315239"	"03804"	"Familial"	""	"normal fundus; bilateral renal hypoplasia; 7y-end stage renal disease; 7y-renal transplant"	"7y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238992"	"00000"	"00315240"	"03804"	"Familial"	""	"normal fundus; Normal renal ultrasound"	""	""	""	""	""	""	""	""	""	""	""
"0000238993"	"05862"	"00315241"	"03804"	"Familial, autosomal dominant"	""	"Unicornate uterus; history of miscarriage; Small optic disc pit; Renal hypoplasia, vesicoureteral reflux; kidney tubulo-interstitial nephritis; 26y-end stage renal disease; 26y-renal transplant"	""	"26y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238994"	"00000"	"00315242"	"03804"	"Familial"	""	"No renal phenotype; eyes not examined; Normal renal U/S and normal renal function"	""	""	""	""	""	""	""	""	""	""	""
"0000238995"	"05862"	"00315243"	"03804"	"Familial"	""	"Uterine agenesis; no eye anomalies; Unilateral renal agenesis, unilateral cystic renal dysplasia; prenatal 20w-ultrasound renal agenesis, cystic kidney"	"0y"	"0y"	""	""	""	""	""	""	""	"renal dysplasia"	""
"0000238996"	"05862"	"00315244"	"03804"	"Familial, autosomal dominant"	""	"renal coloboma syndrome; Bilateral optic disc coloboma; Proteinuria age 6, Unilateral renal hypoplasia"	"6y"	"13y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238997"	"05862"	"00315245"	"03804"	"Familial, autosomal dominant"	""	"Renal coloboma syndrome; Optic disc coloboma; macular hypoplasia; Unilateral renal hypoplasia, vesicoureteral reflux, ; kidney glomeruli had diffuse thickening accompanied by a basket- weave formation of the gbm, which was compatible with alport syndrome."	"0y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238998"	"05862"	"00315246"	"03804"	"Familial, autosomal dominant"	""	"Gout, Pancreatitis, cryptorchidism; excavated dysplastic optic discs; retinal detachment; brunescent cataract; bilateral renal hypoplasia"	"0y"	"12y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000238999"	"05862"	"00315247"	"03804"	"Familial, autosomal dominant"	""	"Graves disease; asthma; Nystagmus, strabismus, bilateral optic nerve dysplasia (morning glory anomaly); Normal renal U/S, enuresis, proteinuria at age 9; prenatal oligohydramnios"	"0y"	"4m"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239000"	"05862"	"00315248"	"03804"	"Familial"	""	"renal hypoplasia; no eye anomalies; bilateral renal hypoplasia; prenatal oligohydramnios"	"0y"	"0y"	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000239001"	"05862"	"00315249"	"03804"	"Familial, autosomal dominant"	""	"Renal hypoplasia, obesity, hypertension, hyperlipidemia.; no eye anomalies; bilateral renal hypoplasia; kidney non specific findings on renal biopsies age 14 and 26.; prenatal developed pregnancy-related hypertension"	"12y"	"37y"	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000239002"	"05342"	"00315250"	"03804"	"Familial"	""	"Non-renal findings and family history not reported; Bilateral renal hypodysplasia, bilateral renal cysts"	""	""	""	""	""	""	""	""	""	"CAKUT"	""
"0000239003"	"05342"	"00315251"	"03804"	"Unknown"	""	"Other findings and family history not reported; bilateral renal hypodysplasia, bilateral renal cysts; ganglioneuroblastoma"	""	""	""	""	""	""	""	""	""	"CAKUT"	""
"0000239004"	"05342"	"00315252"	"03804"	"Unknown"	""	"Other details not published; bilateral ureterovesicle junction obstruction"	""	""	""	""	""	""	""	""	""	"CAKUT"	""
"0000239005"	"05342"	"00315253"	"03804"	"Familial"	""	"Additional details on medical and family history not provided.; Bilateral renal hypodysplasia, bilateral renal cysts"	""	""	""	""	""	""	""	""	""	"CAKUT"	""
"0000239006"	"05342"	"00315254"	"03804"	"Familial"	""	"other findings and family history not provided.; renal cysts"	""	""	""	""	""	""	""	""	""	"CAKUT"	""
"0000239007"	"05342"	"00315255"	"03804"	"Familial"	""	"renal cysts"	""	""	""	""	""	""	""	""	""	"CAKUT"	""
"0000239008"	"05396"	"00315256"	"03804"	"Familial, autosomal dominant"	""	"focal segmental glomerulosclerosis; focal segmental glomerulosclerosis, echogenic kidneys"	""	"8y"	""	""	""	""	""	""	""	"FSGS"	""
"0000239009"	"05396"	"00315257"	"03804"	"Familial, autosomal dominant"	""	"focal segmental glomerulosclerosis; focal segmental glomerulosclerosis"	"8y"	""	""	""	""	""	""	""	""	"FSGS"	""
"0000239010"	"00000"	"00315258"	"03804"	"Familial, autosomal dominant"	""	"normal"	""	""	""	""	""	""	""	""	""	""	""
"0000239011"	"00000"	"00315259"	"03804"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000239012"	"05396"	"00315260"	"03804"	"Familial"	""	"focal segmental glomerulosclerosis; proteinuria"	"07y-11y"	""	""	""	""	""	""	""	""	"FSGS"	""
"0000239013"	"05396"	"00315261"	"03804"	"Familial, autosomal dominant"	""	"focal segmental glomerulosclerosis, normal hearing; kidney periodic acid–schiff staining revealed several segmentally sclerosed glomeruli, electron microscopy showed diffuse podo- cytopathy as evidenced by degenerative changes, microvillous transformation, vacuolization, and lysosome accumulation but with focal foot process effacement"	"68y"	"68y"	""	""	""	""	""	""	""	"FSGS"	""
"0000239014"	"05396"	"00315262"	"03804"	"Familial, autosomal dominant"	""	"focal segmental glomerulosclerosis"	""	""	""	""	""	""	""	""	""	"FSGS"	""
"0000239015"	"05396"	"00315263"	"03804"	"Familial, autosomal dominant"	""	"focal segmental glomerulosclerosis"	""	""	""	""	""	""	""	""	""	"FSGS"	""
"0000239016"	"00198"	"00315264"	"03804"	"Familial, autosomal dominant"	""	"Had one abnormal 24 hour urine collection and one normal.  Clinical status uncertain."	""	""	""	""	""	""	""	""	""	"Uncertain disease status"	""
"0000239017"	"05396"	"00315265"	"03804"	"Familial, autosomal dominant"	""	"focal segmental glomerulosclerosis"	""	""	""	""	""	""	""	""	""	"FSGS"	""
"0000239018"	"05862"	"00315266"	"03804"	"Familial"	""	"renal U/S- Slightly small kidney, calyceal diverticulum"	""	""	""	""	""	""	""	""	""	"proteinuria"	""
"0000239019"	"05396"	"00315267"	"03804"	"Familial"	""	"focal segmental glomerulosclerosis"	""	"36y"	""	""	""	""	""	""	""	"FSGS"	""
"0000239020"	"05396"	"00315268"	"03804"	"Familial, autosomal dominant"	""	"focal segmental glomerulosclerosis"	"31y-32y"	"31y-32y"	""	""	""	""	""	""	""	"FSGS"	""
"0000239021"	"05862"	"00315269"	"03804"	"Isolated (sporadic)"	""	"renal coloboma syndrome-; focal segmental glomerulosclerosis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239022"	"05862"	"00315270"	"03804"	"Isolated (sporadic)"	""	"focal segmental glomerulosclerosis, later evaluation showed more severe disease c/w renal coloboma syndrome; focal segmental glomerulosclerosis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239023"	"05862"	"00315271"	"03804"	"Isolated (sporadic)"	""	"focal segmental glomerulosclerosis, later evaluation showed more severe disease c/w renal coloboma syndrome.; focal segmental glomerulosclerosis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239024"	"05342"	"00315272"	"03804"	"Isolated (sporadic)"	""	"CAKUT; Solitary kidney with hydronephrosis and hydrocele"	""	"8y"	""	""	""	""	""	""	""	"CAKUT"	""
"0000239025"	"05342"	"00315273"	"03804"	"Unknown"	""	"Unilateral UPJO; Ventriculomegaly, facial dysmorphism; seizures; Unilateral UPJO; ventriculomegaly, seizures"	""	"2y"	""	""	""	""	""	""	""	"CAKUT"	""
"0000239026"	"05342"	"00315274"	"03804"	"Unknown"	""	"CAKUT; Unilateral UPJO, Bilateral VUR"	""	"4y"	""	""	""	""	""	""	""	"CAKUT"	""
"0000239027"	"05342"	"00315275"	"03804"	"Isolated (sporadic)"	""	"CAKUT; ventriculomegaly; Solitary kidney; unilateral ventriculomegaly"	""	"4y"	""	""	""	""	""	""	""	"CAKUT"	""
"0000239028"	"05342"	"00315276"	"03804"	"Unknown"	""	"CAKUT; dysmorphic features, hemifacial microsomia; Horseshoe kidney, Small ectopic left kidney"	""	"3y"	""	""	""	""	""	""	""	"CAKUT"	""
"0000239029"	"05342"	"00315277"	"03804"	"Isolated (sporadic)"	""	"CAKUT; Left UPJO, right VUR"	""	"3y"	""	""	""	""	""	""	""	"CAKUT"	""
"0000239030"	"05342"	"00315278"	"03804"	"Unknown"	""	"CAKUT; Unilaeral UVJO/UPJO"	""	"5y"	""	""	""	""	""	""	""	"CAKUT"	""
"0000239031"	"00134"	"00315279"	"03803"	"Familial, autosomal dominant"	""	"bilateral clinodactyly and the fingernails dysplasia, bilateral coxa valga ; no eye anomalies; bilateral renal hypodysplasia and bilateral VUR grade III; kidney neonatale renal failure with serum creatinine concentration 2.3 mg/dl, ultrasonographic evidence of small kidney, associated with both hyperechogenicity and lack of cortical-medullary differentiation; 7y-renal transplant"	"1d"	""	""	""	""	""	""	""	""	"nail patella syndrome"	""
"0000239032"	"05862"	"00315280"	"03804"	"Isolated (sporadic)"	""	"bilateral optic nerve atrophy; Proteinuria age 20, focal segmental glomerulosclerosis, slightly small kidneys with bilateral cysts; kidney one glomerulus was obsolescent and in another there was segmental sclerosis with hyaline deposits near the vascular pole, other glomeruli were slightly enlarged and had essentially minor changes, but in several segments a questionable increased mesangium was observed"	"20y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239033"	"05862"	"00315281"	"03804"	"Familial, autosomal dominant"	""	"bilateral glaucomatous cupping; proteinuria age 2; 5y-end stage renal disease; 8y-renal transplant"	"2y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239034"	"05862"	"00315282"	"03804"	"Familial, autosomal dominant"	""	"bilateral optic nerve atrophy; showed bilateral hypoplastic kidneys; 0y-end stage renal disease; 8y-renal transplant"	"0y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239035"	"05342"	"00315283"	"03804"	"Unknown"	""	"CAKUT; Unilateral renal dysplasia"	""	""	""	""	""	""	""	""	""	"CAKUT"	""
"0000239036"	"05342"	"00315284"	"03804"	"Familial"	""	"unilateral renal dyplasia"	""	""	""	""	""	""	""	""	""	"CAKUT"	""
"0000239037"	"05342"	"00315285"	"03804"	"Familial"	""	"Coloboma; renal dysplasia"	""	""	""	""	""	""	""	""	""	"CAKUT"	""
"0000239038"	"05862"	"00315286"	"03804"	"Familial, autosomal dominant"	""	"bilateral optic nerve coloboma; Hemodialysis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239039"	"05862"	"00315287"	"03804"	"Familial, autosomal dominant"	""	"bilateral optic nerve coloboma; Kidney malrotation; kidney glomerulomegaly"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239040"	"05862"	"00315288"	"03804"	"Unknown"	""	"bilateral optic nerve coloboma; renal Hypoplasia/atrophy, dialysis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239041"	"05862"	"00315289"	"03804"	"Unknown"	""	"bilateral optic nerve coloboma; Kidney malrotation"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239042"	"05862"	"00315290"	"03804"	"Unknown"	""	"bilateral optic nerve coloboma; Hypoplasia/atrophy, dialysis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239043"	"05862"	"00315291"	"03804"	"Familial, autosomal dominant"	""	"bilateral coloboma; malrotation; kidney tubulointerstitial nephritis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239044"	"05862"	"00315292"	"03804"	"Familial, autosomal dominant"	""	"bilateral optic nerve coloboma; Hypoplasia/atrophy,dialysis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239045"	"05862"	"00315293"	"03804"	"Familial, autosomal dominant"	""	"bilateral optic nerve coloboma; ML, lt. double ureters; focal segmental glomerulosclerosis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239046"	"05862"	"00315294"	"03804"	"Unknown"	""	"bilateral optic nerve coloboma; Hypoplasia/atrophy; kidney mes PGN"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239047"	"05862"	"00315295"	"03804"	"Unknown"	""	"bilateral optic nerve coloboma; Normal kidney imaging, focal segmental glomerulosclerosis on biopsy; focal segmental glomerulosclerosis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239048"	"05862"	"00315296"	"03804"	"Unknown"	""	"bilateral optic nerve coloboma; Hypoplasia/atrophy, dialysis; focal segmental glomerulosclerosis"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239049"	"05862"	"00315297"	"03804"	"Unknown"	""	"Papillary excavation; renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239050"	"05862"	"00315298"	"03804"	"Unknown"	""	"renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000239051"	"05862"	"00315299"	"03804"	"Familial, autosomal dominant"	""	"Papillary coloboma; renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239052"	"05862"	"00315300"	"03804"	"Unknown"	""	"renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000239053"	"05862"	"00315301"	"03804"	"Familial"	""	"renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000239054"	"05862"	"00315302"	"03804"	"Familial, autosomal dominant"	""	"renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000239055"	"05862"	"00315303"	"03804"	"Unknown"	""	"renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal hypolasia"	""
"0000239056"	"05862"	"00315304"	"03804"	"Unknown"	""	"Eye coloboma; renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239057"	"05862"	"00315305"	"03804"	"Unknown"	""	"Papillary coloboma; renal hypoplasia"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239058"	"05862"	"00315306"	"03804"	"Isolated (sporadic)"	""	"hypocalcemia and hyperphosphatemia, camptdactyly; bilateral optic nerve coloboma, right optic nerve cyst; myopia; bilateral renal hypoplasia; 10y-end stage renal disease"	"10y"	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239059"	"00198"	"00315307"	"03804"	"Isolated (sporadic)"	""	"Holoprosencephaly, cleft lip, hearing loss; renal hypoplasia; prenatal Dandy-Walker malformation with bilateral ventriculomegaly, cleft lip"	"0y"	""	""	""	""	""	""	""	""	"contiguous gene deletion"	""
"0000239060"	"05862"	"00315308"	"03804"	"Unknown"	""	"renal disease-not specified"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239061"	"05862"	"00315309"	"03804"	"Familial"	""	"bilateral excacvation of optic nerve; Renal hypoplasia, cystic kidneys"	""	"13y"	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239062"	"05862"	"00315310"	"03804"	"Familial, autosomal dominant"	""	"Mother reported to have renal failure; Bilateral excavation of optic nerve, Thinning of optic nerve on MRI; Polycystic kidneys; 24y-renal transplant"	""	""	""	""	""	""	""	""	""	"renal coloboma syndrome"	""
"0000239063"	"00198"	"00315311"	"03804"	"Unknown"	""	"optic pit maculopathy; Normal renal function"	""	""	""	""	""	""	""	""	""	"optic nerve abnormality"	""
"0000246144"	"04214"	"00327917"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000246658"	"04214"	"00328432"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset high myopia"	""
"0000258713"	"04214"	"00363348"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000258735"	"04214"	"00363370"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000267947"	"04214"	"00372668"	"00000"	"Familial, autosomal recessive"	"6y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000267956"	"04214"	"00372677"	"00000"	"Familial, autosomal recessive"	"3y"	"see paper; ..."	"<10y"	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000273318"	"04214"	"00379445"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset high myopia (loHM)"	""
"0000273630"	"01257"	"00379776"	"03508"	"Familial, autosomal dominant"	""	"HP:0030515\tHP:0000613\tHP:0001123\tHP:0000639\tHP:0012795"	""	""	""	""	""	""	""	""	""	"syndrome, papillorenal (PAPRS)"	""
"0000275658"	"04214"	"00381816"	"00000"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa Simplex"	""
"0000295603"	"01257"	"00402842"	"04221"	"Familial, autosomal dominant"	"00y04m"	"microphthalmia, retinal detachment, optic nerve aplasia. OS: iris coloboma, cataract, optic nerve aplasia, Neurodevelopmental delay, hypotonia, abnormality of the pinna."	""	""	"microphthalmia (HP:0000568)"	""	""	""	""	""	"papillorenal syndrome"	"microphthalmia, retinal detachment"	""
"0000300859"	"01257"	"00408740"	"03803"	"Isolated (sporadic)"	""	"bilateral vesicoureteral reflux, chronic renal failure, bilateral renal hypodysplasia, mild hypertrophy bladder neck; ocular and/or ear phenotype"	""	""	""	""	""	""	""	""	""	""	""
"0000300860"	"01257"	"00408741"	"03803"	"Isolated (sporadic)"	""	"renal cystic hypodysplasia, poor growth, developmental delay; one twin cataract, coloboma"	""	""	""	""	""	""	""	""	""	""	""
"0000306297"	"00198"	"00414462"	"00000"	"Familial, autosomal dominant"	"9y"	""	""	""	""	""	""	""	""	""	"Focal Segmental Glomerulosclerosis 7"	""	""
"0000323089"	"01257"	"00432527"	"03803"	"Isolated (sporadic)"	""	"bilateral renal hypodysplasia, vesicoureteral reflux, hearing loss"	""	""	""	""	""	""	""	""	"PAPRS"	"papillorenal syndrome"	""


## Screenings ## Do not remove or alter this header ##
## Count = 276
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000050514"	"00050569"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000133815"	"00132981"	"1"	"00006"	"00006"	"2017-11-11 21:33:23"	""	""	"SEQ"	"DNA"	""	"WES"
"0000133816"	"00132982"	"1"	"00006"	"00006"	"2017-11-11 21:33:23"	""	""	"SEQ"	"DNA"	""	"WES"
"0000316230"	"00315054"	"1"	"03804"	"03804"	"2011-06-17 20:51:31"	"03804"	"2012-01-09 18:33:30"	"SEQ"	"DNA"	""	""
"0000316231"	"00315055"	"1"	"03804"	"03804"	"2011-06-17 21:19:07"	"03804"	"2011-06-20 18:23:01"	"SEQ"	"DNA"	""	""
"0000316232"	"00315056"	"1"	"03804"	"03804"	"2011-06-17 21:37:10"	"03804"	"2012-01-16 20:56:25"	"SEQ"	"DNA"	""	""
"0000316233"	"00315057"	"1"	"03804"	"03804"	"2011-06-17 21:43:14"	"03804"	"2012-01-16 20:56:48"	"SEQ"	"DNA"	""	""
"0000316234"	"00315058"	"1"	"03804"	"03804"	"2011-06-18 04:06:31"	"03804"	"2011-06-20 17:57:11"	"SEQ"	"DNA"	""	""
"0000316235"	"00315059"	"1"	"03804"	"03804"	"2011-06-18 04:19:40"	"03804"	"2011-06-20 17:57:52"	"SEQ"	"DNA"	""	""
"0000316236"	"00315060"	"1"	"03804"	"03804"	"2011-06-18 04:25:01"	"03804"	"2011-06-20 17:58:36"	"SEQ"	"DNA"	""	""
"0000316237"	"00315061"	"1"	"03804"	"03804"	"2011-06-18 04:39:44"	"03804"	"2011-06-20 19:55:37"	"SEQ"	"DNA"	""	""
"0000316238"	"00315062"	"1"	"03804"	"03804"	"2011-06-18 04:45:43"	"03804"	"2011-06-20 19:56:23"	"SEQ"	"DNA"	""	""
"0000316239"	"00315063"	"1"	"03804"	"03804"	"2011-06-18 05:53:23"	"03804"	"2011-06-20 19:54:38"	"SEQ"	"DNA"	""	""
"0000316240"	"00315064"	"1"	"03804"	"03804"	"2011-06-18 06:03:55"	"03804"	"2011-06-20 18:02:02"	"SEQ"	"DNA"	""	""
"0000316241"	"00315065"	"1"	"03804"	"03804"	"2011-06-18 06:27:25"	"03804"	"2011-06-20 18:02:53"	"SEQ"	"DNA"	""	""
"0000316242"	"00315066"	"1"	"03804"	"03804"	"2011-06-18 06:39:55"	"03804"	"2011-06-20 18:03:29"	"SEQ"	"DNA"	""	""
"0000316243"	"00315067"	"1"	"03804"	"03804"	"2011-06-18 15:45:17"	"03804"	"2011-06-20 18:04:02"	"SEQ"	"DNA"	""	""
"0000316244"	"00315068"	"1"	"03804"	"03804"	"2011-06-18 16:07:38"	"03804"	"2011-06-29 14:16:00"	"SEQ"	"DNA"	""	""
"0000316245"	"00315069"	"1"	"03804"	"03804"	"2011-06-18 16:15:09"	"03804"	"2011-06-20 18:07:04"	"SEQ"	"DNA"	""	""
"0000316246"	"00315070"	"1"	"03804"	"03804"	"2011-06-18 16:21:37"	"03804"	"2011-06-29 14:24:25"	"SEQ"	"DNA"	""	""
"0000316247"	"00315071"	"1"	"03804"	"03804"	"2011-06-18 16:25:04"	"03804"	"2011-06-29 14:25:53"	"SEQ"	"DNA"	""	""
"0000316248"	"00315072"	"1"	"03804"	"03804"	"2011-06-18 16:35:36"	"03804"	"2011-06-20 18:33:33"	"SEQ"	"DNA"	""	""
"0000316249"	"00315073"	"1"	"03804"	"03804"	"2011-06-18 16:38:47"	"03804"	"2011-06-20 18:37:41"	"SEQ"	"DNA"	""	""
"0000316250"	"00315074"	"1"	"03804"	"03804"	"2011-06-18 16:49:46"	"03804"	"2011-06-30 22:43:01"	"SEQ"	"DNA"	""	""
"0000316251"	"00315075"	"1"	"03804"	"03804"	"2011-06-18 16:53:15"	"03804"	"2011-06-20 19:58:42"	"SEQ"	"DNA"	""	""
"0000316252"	"00315076"	"1"	"03804"	"03804"	"2011-06-20 17:02:09"	"03804"	"2011-06-29 14:28:13"	"SEQ"	"DNA"	""	""
"0000316253"	"00315077"	"1"	"03804"	"03804"	"2011-06-20 18:56:55"	""	""	"SEQ"	"DNA"	""	""
"0000316254"	"00315078"	"1"	"03804"	"03804"	"2011-06-20 19:05:51"	""	""	"SEQ"	"DNA"	""	""
"0000316255"	"00315079"	"1"	"03804"	"03804"	"2011-06-20 19:09:23"	"03804"	"2012-01-16 20:58:17"	"SEQ"	"DNA"	""	""
"0000316256"	"00315080"	"1"	"03804"	"03804"	"2011-06-20 19:11:39"	"03804"	"2012-01-16 20:59:01"	"SEQ"	"DNA"	""	""
"0000316257"	"00315081"	"1"	"03804"	"03804"	"2011-06-20 19:18:13"	"03804"	"2012-01-16 21:00:17"	"SEQ"	"DNA"	""	""
"0000316258"	"00315082"	"1"	"03804"	"03804"	"2011-06-20 19:22:45"	"03804"	"2012-01-16 21:00:53"	"SEQ"	"DNA"	""	""
"0000316259"	"00315083"	"1"	"03804"	"03804"	"2011-06-20 19:26:31"	"03804"	"2012-01-16 21:01:25"	"SEQ"	"DNA"	""	""
"0000316260"	"00315084"	"1"	"03804"	"03804"	"2011-06-20 19:33:52"	""	""	"SEQ"	"DNA"	""	""
"0000316261"	"00315085"	"1"	"03804"	"03804"	"2011-06-20 19:43:30"	"03804"	"2012-01-16 21:02:09"	"SEQ"	"DNA"	""	""
"0000316262"	"00315086"	"1"	"03804"	"03804"	"2011-06-20 19:53:24"	"03804"	"2012-01-16 20:55:29"	"SEQ"	"DNA"	""	""
"0000316263"	"00315087"	"1"	"03804"	"03804"	"2011-06-20 20:10:36"	"03804"	"2011-06-30 22:44:07"	"SEQ"	"DNA"	""	""
"0000316264"	"00315088"	"1"	"03804"	"03804"	"2011-06-20 21:01:03"	"03804"	"2011-06-29 14:03:14"	"SEQ"	"DNA"	""	""
"0000316265"	"00315089"	"1"	"03804"	"03804"	"2011-06-20 21:08:40"	"03804"	"2012-01-09 18:20:31"	"SEQ"	"DNA"	""	""
"0000316266"	"00315090"	"1"	"03804"	"03804"	"2011-06-20 21:15:18"	"03804"	"2012-01-09 18:22:32"	"SEQ"	"DNA"	""	""
"0000316267"	"00315091"	"1"	"03804"	"03804"	"2011-06-20 21:23:44"	"03804"	"2012-01-09 18:24:16"	"SEQ"	"DNA"	""	""
"0000316268"	"00315092"	"1"	"03804"	"03804"	"2011-06-20 21:35:11"	""	""	"SEQ"	"DNA"	""	""
"0000316269"	"00315093"	"1"	"03804"	"03804"	"2011-06-20 21:43:42"	"03804"	"2012-01-09 18:26:14"	"SEQ"	"DNA"	""	""
"0000316270"	"00315094"	"1"	"03804"	"03804"	"2011-06-20 21:50:43"	"03804"	"2012-01-09 18:29:36"	"SEQ"	"DNA"	""	""
"0000316271"	"00315095"	"1"	"03804"	"03804"	"2011-06-20 21:55:48"	""	""	"SEQ"	"DNA"	""	""
"0000316272"	"00315096"	"1"	"03804"	"03804"	"2011-06-20 22:28:02"	"03804"	"2012-01-09 18:27:52"	"SEQ"	"DNA"	""	""
"0000316273"	"00315097"	"1"	"03804"	"03804"	"2011-06-20 22:32:23"	"03804"	"2012-01-09 18:31:26"	"SEQ"	"DNA"	""	""
"0000316274"	"00315098"	"1"	"03804"	"03804"	"2011-06-20 22:38:57"	"03804"	"2012-01-09 18:38:00"	"SEQ"	"DNA"	""	""
"0000316275"	"00315099"	"1"	"03804"	"03804"	"2011-06-21 00:20:42"	"03804"	"2012-01-09 18:39:44"	"SEQ"	"DNA"	""	""
"0000316276"	"00315100"	"1"	"03804"	"03804"	"2011-06-21 00:32:41"	"03804"	"2012-01-09 18:41:29"	"SEQ"	"DNA"	""	""
"0000316277"	"00315101"	"1"	"03804"	"03804"	"2011-06-21 00:38:17"	""	""	"SEQ"	"DNA"	""	""
"0000316278"	"00315102"	"1"	"03804"	"03804"	"2011-06-21 00:49:45"	"03804"	"2011-06-21 00:57:29"	"SEQ"	"DNA"	""	""
"0000316279"	"00315103"	"1"	"03804"	"03804"	"2011-06-21 00:55:20"	""	""	"SEQ"	"DNA"	""	""
"0000316280"	"00315104"	"1"	"03804"	"03804"	"2011-06-21 01:00:47"	""	""	"SEQ"	"DNA"	""	""
"0000316281"	"00315105"	"1"	"03804"	"03804"	"2011-06-21 01:05:07"	""	""	"SEQ"	"DNA"	""	""
"0000316282"	"00315106"	"1"	"03804"	"03804"	"2011-06-21 02:26:32"	"03804"	"2012-01-09 19:07:06"	"SEQ"	"DNA"	""	""
"0000316283"	"00315107"	"1"	"03804"	"03804"	"2011-06-21 02:29:56"	"03804"	"2012-01-09 19:08:17"	"SEQ"	"DNA"	""	""
"0000316284"	"00315108"	"1"	"03804"	"03804"	"2011-06-21 02:59:13"	"03804"	"2012-01-09 19:13:46"	"SEQ"	"DNA"	""	""
"0000316285"	"00315109"	"1"	"03804"	"03804"	"2011-06-21 20:33:00"	"03804"	"2012-01-09 19:20:57"	"SEQ"	"DNA"	""	""
"0000316286"	"00315110"	"1"	"03804"	"03804"	"2011-06-21 20:37:05"	"03804"	"2011-06-21 20:42:17"	"SEQ"	"DNA"	""	""
"0000316287"	"00315111"	"1"	"03804"	"03804"	"2011-06-21 20:41:27"	""	""	"SEQ"	"DNA"	""	""
"0000316288"	"00315112"	"1"	"03804"	"03804"	"2011-06-21 20:47:07"	""	""	"SEQ"	"DNA"	""	""
"0000316289"	"00315113"	"1"	"03804"	"03804"	"2011-06-21 20:51:15"	"03804"	"2012-01-12 19:48:09"	"SEQ"	"DNA"	""	""
"0000316290"	"00315114"	"1"	"03804"	"03804"	"2011-06-21 20:54:17"	""	""	"SEQ"	"DNA"	""	""
"0000316291"	"00315115"	"1"	"03804"	"03804"	"2011-06-21 20:59:53"	"03804"	"2012-01-13 02:15:36"	"SEQ"	"DNA"	""	""
"0000316292"	"00315116"	"1"	"03804"	"03804"	"2011-06-21 21:10:23"	"03804"	"2011-06-29 14:04:46"	"SEQ"	"DNA"	""	""
"0000316293"	"00315117"	"1"	"03804"	"03804"	"2011-06-21 21:17:05"	"03804"	"2012-01-13 02:17:49"	"SEQ"	"DNA"	""	""
"0000316294"	"00315118"	"1"	"03804"	"03804"	"2011-06-21 21:23:19"	"03804"	"2012-01-13 02:19:27"	"SEQ"	"DNA"	""	""
"0000316295"	"00315119"	"1"	"03804"	"03804"	"2011-06-21 21:30:23"	"03804"	"2012-01-13 02:29:39"	"SEQ"	"DNA"	""	""
"0000316296"	"00315120"	"1"	"03804"	"03804"	"2011-06-21 21:35:30"	""	""	"SEQ"	"DNA"	""	""
"0000316297"	"00315121"	"1"	"03804"	"03804"	"2011-06-21 21:39:50"	""	""	"SEQ"	"DNA"	""	""
"0000316298"	"00315122"	"1"	"03804"	"03804"	"2011-06-21 21:45:09"	"03804"	"2012-01-13 02:35:11"	"SEQ"	"DNA"	""	""
"0000316299"	"00315123"	"1"	"03804"	"03804"	"2011-06-21 21:53:32"	"03804"	"2012-01-13 02:36:29"	"SEQ"	"DNA"	""	""
"0000316300"	"00315124"	"1"	"03804"	"03804"	"2011-06-21 22:05:58"	"03804"	"2012-01-13 02:41:46"	"SEQ"	"DNA"	""	""
"0000316301"	"00315125"	"1"	"03804"	"03804"	"2011-06-21 22:32:01"	"03804"	"2012-01-13 04:01:17"	"SEQ"	"DNA"	""	""
"0000316302"	"00315126"	"1"	"03804"	"03804"	"2011-06-21 22:34:07"	""	""	"SEQ"	"DNA"	""	""
"0000316303"	"00315127"	"1"	"03804"	"03804"	"2011-06-21 22:37:17"	""	""	"SEQ"	"DNA"	""	""
"0000316304"	"00315128"	"1"	"03804"	"03804"	"2011-06-21 22:39:39"	"03804"	"2011-06-23 01:52:14"	"SEQ"	"DNA"	""	""
"0000316305"	"00315129"	"1"	"03804"	"03804"	"2011-06-21 22:50:23"	""	""	"SEQ"	"DNA"	""	""
"0000316306"	"00315130"	"1"	"03804"	"03804"	"2011-06-21 23:44:21"	""	""	"SEQ"	"DNA"	""	""
"0000316307"	"00315131"	"1"	"03804"	"03804"	"2011-06-22 01:55:50"	"03804"	"2011-06-23 01:51:35"	"SEQ"	"DNA"	""	""
"0000316308"	"00315132"	"1"	"03804"	"03804"	"2011-06-22 01:58:41"	""	""	"SEQ"	"DNA"	""	""
"0000316309"	"00315133"	"1"	"03804"	"03804"	"2011-06-22 02:05:20"	"03804"	"2012-01-13 02:39:51"	"SEQ"	"DNA"	""	""
"0000316310"	"00315134"	"1"	"03804"	"03804"	"2011-06-22 02:17:19"	"03804"	"2012-01-13 02:46:50"	"SEQ"	"DNA"	""	""
"0000316311"	"00315135"	"1"	"03804"	"03804"	"2011-06-22 02:26:01"	"03804"	"2012-01-13 03:42:38"	"SEQ"	"DNA"	""	""
"0000316312"	"00315136"	"1"	"03804"	"03804"	"2011-06-22 02:32:08"	"03804"	"2012-01-13 03:43:50"	"SEQ"	"DNA"	""	""
"0000316313"	"00315137"	"1"	"03804"	"03804"	"2011-06-22 02:37:32"	""	""	"SEQ"	"DNA"	""	""
"0000316314"	"00315138"	"1"	"03804"	"03804"	"2011-06-22 02:41:30"	""	""	"SEQ"	"DNA"	""	""
"0000316315"	"00315139"	"1"	"03804"	"03804"	"2011-06-22 03:01:21"	"03804"	"2012-01-16 20:47:21"	"SEQ"	"DNA"	""	""
"0000316316"	"00315140"	"1"	"03804"	"03804"	"2011-06-22 19:03:14"	""	""	"SEQ"	"DNA"	""	""
"0000316317"	"00315141"	"1"	"03804"	"03804"	"2011-06-22 19:06:22"	""	""	"SEQ"	"DNA"	""	""
"0000316318"	"00315142"	"1"	"03804"	"03804"	"2011-06-22 19:09:20"	""	""	"SEQ"	"DNA"	""	""
"0000316319"	"00315143"	"1"	"03804"	"03804"	"2011-06-22 19:12:32"	"03804"	"2011-06-22 19:13:32"	"SEQ"	"DNA"	""	""
"0000316320"	"00315144"	"1"	"03804"	"03804"	"2011-06-22 19:16:14"	"03804"	"2011-06-22 19:21:17"	"SEQ"	"DNA"	""	""
"0000316321"	"00315145"	"1"	"03804"	"03804"	"2011-06-22 19:20:34"	"03804"	"2011-06-22 19:21:50"	"SEQ"	"DNA"	""	""
"0000316322"	"00315146"	"1"	"03804"	"03804"	"2011-06-22 19:25:53"	""	""	"SEQ"	"DNA"	""	""
"0000316323"	"00315147"	"1"	"03804"	"03804"	"2011-06-22 19:29:22"	""	""	"SEQ"	"DNA"	""	""
"0000316324"	"00315148"	"1"	"03804"	"03804"	"2011-06-22 19:45:21"	"03804"	"2012-01-13 03:54:57"	"SEQ"	"DNA"	""	""
"0000316325"	"00315149"	"1"	"03804"	"03804"	"2011-06-22 19:50:43"	"03804"	"2012-01-13 03:48:11"	"SEQ"	"DNA"	""	""
"0000316326"	"00315150"	"1"	"03804"	"03804"	"2011-06-22 20:11:39"	""	""	"SEQ"	"DNA"	""	""
"0000316327"	"00315151"	"1"	"03804"	"03804"	"2011-06-22 20:22:39"	"03804"	"2012-01-13 03:59:15"	"SEQ"	"DNA"	""	""
"0000316328"	"00315152"	"1"	"03804"	"03804"	"2011-06-22 20:25:07"	""	""	"SEQ"	"DNA"	""	""
"0000316329"	"00315153"	"1"	"03804"	"03804"	"2011-06-22 20:27:59"	""	""	"SEQ"	"DNA"	""	""
"0000316330"	"00315154"	"1"	"03804"	"03804"	"2011-06-22 20:30:22"	""	""	"SEQ"	"DNA"	""	""
"0000316331"	"00315155"	"1"	"03804"	"03804"	"2011-06-22 20:36:11"	""	""	"SEQ"	"DNA"	""	""
"0000316332"	"00315156"	"1"	"03804"	"03804"	"2011-06-22 20:49:02"	"03804"	"2012-01-13 03:49:55"	"SEQ"	"DNA"	""	""
"0000316333"	"00315157"	"1"	"03804"	"03804"	"2011-06-22 20:53:44"	""	""	"SEQ"	"DNA"	""	""
"0000316334"	"00315158"	"1"	"03804"	"03804"	"2011-06-22 20:56:25"	""	""	"SEQ"	"DNA"	""	""
"0000316335"	"00315159"	"1"	"03804"	"03804"	"2011-06-23 01:50:42"	"03804"	"2012-01-09 19:02:54"	"SEQ"	"DNA"	""	""
"0000316336"	"00315160"	"1"	"03804"	"03804"	"2011-06-23 01:54:44"	"03804"	"2012-01-09 19:04:12"	"SEQ"	"DNA"	""	""
"0000316337"	"00315161"	"1"	"03804"	"03804"	"2011-06-23 01:57:58"	"03804"	"2012-01-09 19:05:20"	"SEQ"	"DNA"	""	""
"0000316338"	"00315162"	"1"	"03804"	"03804"	"2011-06-23 02:04:24"	"03804"	"2012-01-13 02:44:44"	"SEQ"	"DNA"	""	""
"0000316339"	"00315163"	"1"	"03804"	"03804"	"2011-06-23 02:08:44"	"03804"	"2012-01-13 03:02:12"	"SEQ"	"DNA"	""	""
"0000316340"	"00315164"	"1"	"03804"	"03804"	"2011-06-23 02:12:06"	"03804"	"2012-01-13 02:31:52"	"SEQ"	"DNA"	""	""
"0000316341"	"00315165"	"1"	"03804"	"03804"	"2011-06-23 18:28:50"	"03804"	"2012-01-13 01:56:10"	"SEQ"	"DNA"	""	""
"0000316342"	"00315166"	"1"	"03804"	"03804"	"2011-06-23 18:38:10"	"03804"	"2012-01-13 01:57:13"	"SEQ"	"DNA"	""	""
"0000316343"	"00315167"	"1"	"03804"	"03804"	"2011-06-23 18:41:34"	"03804"	"2012-01-13 01:58:27"	"SEQ"	"DNA"	""	""
"0000316344"	"00315168"	"1"	"03804"	"03804"	"2011-06-23 18:43:12"	"03804"	"2012-01-13 01:59:31"	"SEQ"	"DNA"	""	""
"0000316345"	"00315169"	"1"	"03804"	"03804"	"2011-06-23 18:44:55"	"03804"	"2012-01-13 02:00:32"	"SEQ"	"DNA"	""	""
"0000316346"	"00315170"	"1"	"03804"	"03804"	"2011-06-23 18:48:04"	"03804"	"2012-01-13 02:01:58"	"SEQ"	"DNA"	""	""
"0000316347"	"00315171"	"1"	"03804"	"03804"	"2011-06-23 19:12:10"	"03804"	"2012-01-13 02:02:52"	"SEQ"	"DNA"	""	""
"0000316348"	"00315172"	"1"	"03804"	"03804"	"2011-06-23 19:16:46"	"03804"	"2012-01-13 02:04:29"	"SEQ"	"DNA"	""	""
"0000316349"	"00315173"	"1"	"03804"	"03804"	"2011-06-23 19:19:54"	"03804"	"2012-01-13 02:06:09"	"SEQ"	"DNA"	""	""
"0000316350"	"00315174"	"1"	"03804"	"03804"	"2011-06-23 19:22:56"	"03804"	"2012-01-13 02:08:30"	"SEQ"	"DNA"	""	""
"0000316351"	"00315175"	"1"	"03804"	"03804"	"2011-06-23 19:27:11"	"03804"	"2012-01-13 03:46:11"	"SEQ"	"DNA"	""	""
"0000316352"	"00315176"	"1"	"03804"	"03804"	"2011-06-23 19:30:26"	"03804"	"2012-01-13 03:47:07"	"SEQ"	"DNA"	""	""
"0000316353"	"00315177"	"1"	"03804"	"03804"	"2011-06-23 19:34:06"	"03804"	"2012-01-13 02:15:01"	"SEQ"	"DNA"	""	""
"0000316354"	"00315178"	"1"	"03804"	"03804"	"2011-06-23 19:39:49"	"03804"	"2012-01-13 02:13:26"	"SEQ"	"DNA"	""	""
"0000316355"	"00315179"	"1"	"03804"	"03804"	"2011-06-23 19:45:09"	"03804"	"2012-01-13 02:12:19"	"SEQ"	"DNA"	""	""
"0000316356"	"00315180"	"1"	"03804"	"03804"	"2011-06-23 19:52:30"	"03804"	"2012-01-13 02:10:03"	"SEQ"	"DNA"	""	""
"0000316357"	"00315181"	"1"	"03804"	"03804"	"2011-06-23 20:02:56"	"03804"	"2012-01-09 18:09:41"	"arrayCGH"	"DNA"	""	""
"0000316358"	"00315182"	"1"	"03804"	"03804"	"2011-06-23 20:32:04"	"03804"	"2012-01-09 18:15:34"	"Southern"	"DNA"	""	""
"0000316359"	"00315183"	"1"	"03804"	"03804"	"2011-06-27 17:19:43"	"03804"	"2012-01-13 01:52:37"	"SEQ"	"DNA"	""	""
"0000316360"	"00315184"	"1"	"03804"	"03804"	"2011-06-27 17:33:32"	"03804"	"2012-01-09 18:05:40"	"SEQ"	"DNA"	""	""
"0000316361"	"00315185"	"1"	"03804"	"03804"	"2011-06-27 17:40:51"	"03804"	"2012-01-09 18:08:24"	"SEQ"	"DNA"	""	""
"0000316362"	"00315186"	"1"	"03804"	"03804"	"2011-06-27 17:43:31"	"03804"	"2012-01-09 18:35:40"	"SEQ"	"DNA"	""	""
"0000316363"	"00315187"	"1"	"03804"	"03804"	"2011-06-27 18:37:40"	"03804"	"2012-01-13 02:26:38"	"SEQ"	"DNA"	""	""
"0000316364"	"00315188"	"1"	"03804"	"03804"	"2011-06-27 18:43:22"	"03804"	"2012-01-09 18:54:46"	"SEQ"	"DNA"	""	""
"0000316365"	"00315189"	"1"	"03804"	"03804"	"2011-06-27 18:50:17"	"03804"	"2012-01-13 03:52:24"	"SEQ"	"DNA"	""	""
"0000316366"	"00315190"	"1"	"03804"	"03804"	"2011-06-27 18:53:13"	"03804"	"2012-01-13 03:53:21"	"SEQ"	"DNA"	""	""
"0000316367"	"00315191"	"1"	"03804"	"03804"	"2011-06-27 18:56:43"	"03804"	"2013-04-13 16:24:44"	"SEQ"	"DNA"	""	""
"0000316368"	"00315192"	"1"	"03804"	"03804"	"2011-06-27 19:03:19"	"03804"	"2012-01-13 02:10:58"	"SEQ"	"DNA"	""	""
"0000316369"	"00315193"	"1"	"03804"	"03804"	"2011-06-27 19:14:14"	"03804"	"2012-01-13 01:53:05"	"SEQ"	"DNA"	""	""
"0000316370"	"00315194"	"1"	"03804"	"03804"	"2011-06-27 19:16:57"	"03804"	"2012-01-13 01:54:03"	"SEQ"	"DNA"	""	""
"0000316371"	"00315195"	"1"	"03804"	"03804"	"2011-06-27 19:19:19"	"03804"	"2012-01-13 01:55:01"	"SEQ"	"DNA"	""	""
"0000316372"	"00315196"	"1"	"03804"	"03804"	"2011-06-27 19:23:18"	"03804"	"2012-01-09 19:09:35"	"SEQ"	"DNA"	""	""
"0000316373"	"00315197"	"1"	"03804"	"03804"	"2011-06-27 19:25:42"	"03804"	"2012-01-09 19:10:39"	"SEQ"	"DNA"	""	""
"0000316374"	"00315198"	"1"	"03804"	"03804"	"2011-06-27 19:27:37"	"03804"	"2012-01-09 19:11:59"	"SEQ"	"DNA"	""	""
"0000316375"	"00315199"	"1"	"03804"	"03804"	"2011-06-27 19:31:28"	"03804"	"2012-01-09 19:15:06"	"SEQ"	"DNA"	""	""
"0000316376"	"00315200"	"1"	"03804"	"03804"	"2011-06-27 19:33:45"	"03804"	"2012-01-09 19:16:17"	"SEQ"	"DNA"	""	""
"0000316377"	"00315201"	"1"	"03804"	"03804"	"2011-06-27 19:35:41"	"03804"	"2012-01-09 19:19:47"	"SEQ"	"DNA"	""	""
"0000316378"	"00315202"	"1"	"03804"	"03804"	"2011-06-27 19:37:48"	"03804"	"2012-01-12 19:26:20"	"SEQ"	"DNA"	""	""
"0000316379"	"00315203"	"1"	"03804"	"03804"	"2011-06-27 19:47:32"	"03804"	"2012-01-12 19:26:41"	"SEQ"	"DNA"	""	""
"0000316380"	"00315204"	"1"	"03804"	"03804"	"2011-06-27 19:49:22"	"03804"	"2012-01-12 19:27:24"	"SEQ"	"DNA"	""	""
"0000316381"	"00315205"	"1"	"03804"	"03804"	"2011-06-27 19:51:25"	"03804"	"2012-01-12 19:29:46"	"SEQ"	"DNA"	""	""
"0000316382"	"00315206"	"1"	"03804"	"03804"	"2011-06-27 19:53:14"	"03804"	"2012-01-12 19:30:34"	"SEQ"	"DNA"	""	""
"0000316383"	"00315207"	"1"	"03804"	"03804"	"2011-06-27 19:55:16"	"03804"	"2012-01-12 19:31:18"	"SEQ"	"DNA"	""	""
"0000316384"	"00315208"	"1"	"03804"	"03804"	"2011-06-27 19:57:37"	"03804"	"2012-01-12 19:43:43"	"SEQ"	"DNA"	""	""
"0000316385"	"00315209"	"1"	"03804"	"03804"	"2011-06-27 19:59:34"	"03804"	"2012-01-12 19:44:28"	"SEQ"	"DNA"	""	""
"0000316386"	"00315210"	"1"	"03804"	"03804"	"2011-06-27 20:01:25"	"03804"	"2012-01-12 19:47:18"	"SEQ"	"DNA"	""	""
"0000316387"	"00315211"	"1"	"03804"	"03804"	"2011-06-28 21:47:02"	""	""	"SEQ"	"DNA"	""	""
"0000316388"	"00315212"	"1"	"03804"	"03804"	"2011-06-28 23:01:12"	""	""	"SEQ"	"DNA"	""	""
"0000316389"	"00315213"	"1"	"03804"	"03804"	"2011-06-29 03:59:55"	"03804"	"2012-01-16 20:45:03"	"SEQ"	"DNA"	""	""
"0000316390"	"00315214"	"1"	"03804"	"03804"	"2011-06-29 16:40:15"	"03804"	"2012-01-16 20:49:40"	"SEQ"	"DNA"	""	""
"0000316391"	"00315215"	"1"	"03804"	"03804"	"2011-06-29 16:46:30"	"03804"	"2012-01-16 20:50:17"	"SEQ"	"DNA"	""	""
"0000316392"	"00315216"	"1"	"03804"	"03804"	"2011-06-29 17:19:47"	"03804"	"2012-01-16 20:50:58"	"SEQ"	"DNA"	""	""
"0000316393"	"00315217"	"1"	"03804"	"03804"	"2011-06-29 19:58:07"	"03804"	"2012-01-16 20:51:54"	"SEQ"	"DNA"	""	""
"0000316394"	"00315218"	"1"	"03804"	"03804"	"2011-06-29 23:14:38"	"03804"	"2012-01-16 20:54:04"	"SEQ"	"DNA"	""	""
"0000316395"	"00315219"	"1"	"03804"	"03804"	"2011-06-29 23:21:52"	""	""	"SEQ"	"DNA"	""	""
"0000316396"	"00315220"	"1"	"03804"	"03804"	"2011-06-29 23:25:28"	""	""	"SEQ"	"DNA"	""	""
"0000316397"	"00315221"	"1"	"03804"	"03804"	"2011-06-29 23:28:10"	""	""	"SEQ"	"DNA"	""	""
"0000316398"	"00315222"	"1"	"03804"	"03804"	"2011-06-29 23:31:41"	""	""	"SEQ"	"DNA"	""	""
"0000316399"	"00315223"	"1"	"03804"	"03804"	"2011-08-31 19:58:21"	"03804"	"2012-01-13 02:33:36"	"SEQ"	"DNA"	""	""
"0000316400"	"00315224"	"1"	"03804"	"03804"	"2011-08-31 20:02:33"	"03804"	"2012-01-09 18:43:38"	"SEQ"	"DNA"	""	""
"0000316401"	"00315225"	"1"	"03804"	"03804"	"2011-08-31 20:09:29"	"03804"	"2012-01-09 18:45:06"	"SEQ"	"DNA"	""	""
"0000316402"	"00315226"	"1"	"03804"	"03804"	"2011-08-31 23:00:05"	"03804"	"2012-01-13 02:45:52"	"SEQ"	"DNA"	""	""
"0000316403"	"00315227"	"1"	"03804"	"03804"	"2011-09-01 23:21:03"	"03804"	"2012-01-13 02:48:04"	"SEQ"	"DNA"	""	""
"0000316404"	"00315228"	"1"	"03804"	"03804"	"2011-09-06 20:10:19"	"03804"	"2012-01-13 03:04:09"	"SEQ"	"DNA"	""	""
"0000316405"	"00315229"	"1"	"03804"	"03804"	"2012-01-16 22:05:19"	""	""	"SEQ"	"DNA"	""	""
"0000316406"	"00315230"	"1"	"03804"	"03804"	"2012-04-06 20:52:04"	"03804"	"2012-04-06 20:55:23"	"arrayCGH"	"DNA"	""	""
"0000316407"	"00315231"	"1"	"03804"	"03804"	"2012-04-07 00:26:36"	""	""	"SEQ"	"DNA"	""	""
"0000316408"	"00315232"	"1"	"03804"	"03804"	"2012-04-07 00:39:27"	"03804"	"2012-04-07 00:40:05"	"SEQ"	"DNA"	""	""
"0000316409"	"00315233"	"1"	"03804"	"03804"	"2012-06-13 22:38:37"	""	""	"SEQ"	"DNA"	""	""
"0000316410"	"00315234"	"1"	"03804"	"03804"	"2012-06-13 22:43:12"	"03804"	"2012-06-13 22:45:30"	"SEQ"	"DNA"	""	""
"0000316411"	"00315235"	"1"	"03804"	"03804"	"2013-01-30 18:42:05"	""	""	"arrayCGH"	"DNA"	""	""
"0000316412"	"00315236"	"1"	"03804"	"03804"	"2013-04-13 15:25:03"	""	""	"SEQ"	"DNA"	""	""
"0000316413"	"00315237"	"1"	"03804"	"03804"	"2013-04-13 15:31:43"	""	""	"SEQ"	"DNA"	""	""
"0000316414"	"00315238"	"1"	"03804"	"03804"	"2013-04-13 15:45:01"	""	""	"SEQ"	"DNA"	""	""
"0000316415"	"00315239"	"1"	"03804"	"03804"	"2013-04-13 15:48:06"	""	""	"SEQ"	"DNA"	""	""
"0000316416"	"00315240"	"1"	"03804"	"03804"	"2013-04-13 15:51:59"	""	""	"SEQ"	"DNA"	""	""
"0000316417"	"00315241"	"1"	"03804"	"03804"	"2013-04-13 16:02:20"	"03804"	"2013-04-13 16:02:49"	"SEQ"	"DNA"	""	""
"0000316418"	"00315242"	"1"	"03804"	"03804"	"2013-04-14 01:09:52"	"03804"	"2013-04-14 01:10:21"	"SEQ"	"DNA"	""	""
"0000316419"	"00315243"	"1"	"03804"	"03804"	"2013-04-14 01:23:47"	""	""	"SEQ"	"DNA"	""	""
"0000316420"	"00315244"	"1"	"03804"	"03804"	"2013-05-13 03:12:55"	""	""	"SEQ"	"DNA"	""	""
"0000316421"	"00315245"	"1"	"03804"	"03804"	"2013-05-13 03:17:27"	"03804"	"2013-05-13 03:21:31"	"SEQ"	"DNA"	""	""
"0000316422"	"00315246"	"1"	"03804"	"03804"	"2013-06-05 22:38:58"	""	""	"SEQ"	"DNA"	""	""
"0000316423"	"00315247"	"1"	"03804"	"03804"	"2013-09-06 04:54:53"	"03804"	"2013-09-06 04:55:17"	"SEQ"	"DNA"	""	""
"0000316424"	"00315248"	"1"	"03804"	"03804"	"2013-10-23 15:01:32"	""	""	"SEQ"	"DNA"	""	""
"0000316425"	"00315249"	"1"	"03804"	"03804"	"2013-10-23 15:20:30"	""	""	"SEQ"	"DNA"	""	""
"0000316426"	"00315250"	"1"	"03804"	"03804"	"2014-04-15 12:12:04"	"03804"	"2014-04-15 12:14:41"	"SEQ"	"DNA"	""	""
"0000316427"	"00315251"	"1"	"03804"	"03804"	"2014-04-15 12:20:10"	""	""	"SEQ"	"DNA"	""	""
"0000316428"	"00315252"	"1"	"03804"	"03804"	"2014-04-15 12:24:44"	""	""	"SEQ"	"DNA"	""	""
"0000316429"	"00315253"	"1"	"03804"	"03804"	"2014-04-15 14:14:54"	""	""	"SEQ"	"DNA"	""	""
"0000316430"	"00315254"	"1"	"03804"	"03804"	"2014-04-15 23:06:54"	""	""	"SEQ"	"DNA"	""	""
"0000316431"	"00315255"	"1"	"03804"	"03804"	"2014-04-16 02:17:28"	""	""	"SEQ"	"DNA"	""	""
"0000316432"	"00315256"	"1"	"03804"	"03804"	"2014-05-01 22:49:39"	"03804"	"2014-05-01 22:53:35"	"SEQ"	"DNA"	""	""
"0000316433"	"00315257"	"1"	"03804"	"03804"	"2014-05-01 22:57:27"	""	""	"SEQ"	"DNA"	""	""
"0000316434"	"00315258"	"1"	"03804"	"03804"	"2014-05-01 23:00:07"	""	""	"SEQ"	"DNA"	""	""
"0000316435"	"00315259"	"1"	"03804"	"03804"	"2014-05-01 23:02:34"	""	""	"SEQ"	"DNA"	""	""
"0000316436"	"00315260"	"1"	"03804"	"03804"	"2014-05-01 23:11:27"	"03804"	"2014-05-01 23:21:34"	"SEQ"	"DNA"	""	""
"0000316437"	"00315261"	"1"	"03804"	"03804"	"2014-05-01 23:33:30"	"03804"	"2014-05-29 13:37:06"	"SEQ-NG-I"	"DNA"	""	""
"0000316438"	"00315262"	"1"	"03804"	"03804"	"2014-05-28 23:43:50"	"03804"	"2014-05-29 13:40:50"	"SEQ"	"DNA"	""	""
"0000316439"	"00315263"	"1"	"03804"	"03804"	"2014-05-28 23:45:43"	"03804"	"2014-05-29 13:42:46"	"SEQ"	"DNA"	""	""
"0000316440"	"00315264"	"1"	"03804"	"03804"	"2014-05-28 23:49:14"	"03804"	"2014-05-28 23:54:15"	"SEQ"	"DNA"	""	""
"0000316441"	"00315265"	"1"	"03804"	"03804"	"2014-05-28 23:52:54"	""	""	"SEQ"	"DNA"	""	""
"0000316442"	"00315266"	"1"	"03804"	"03804"	"2014-05-29 20:03:13"	""	""	"SEQ"	"DNA"	""	""
"0000316443"	"00315267"	"1"	"03804"	"03804"	"2014-05-29 20:09:09"	""	""	"SEQ"	"DNA"	""	""
"0000316444"	"00315268"	"1"	"03804"	"03804"	"2014-05-29 20:17:14"	""	""	"SEQ"	"DNA"	""	""
"0000316445"	"00315269"	"1"	"03804"	"03804"	"2014-06-10 13:59:38"	""	""	"SEQ"	"DNA"	""	""
"0000316446"	"00315270"	"1"	"03804"	"03804"	"2014-06-10 14:02:04"	""	""	"SEQ"	"DNA"	""	""
"0000316447"	"00315271"	"1"	"03804"	"03804"	"2014-06-10 14:04:02"	""	""	"SEQ"	"DNA"	""	""
"0000316448"	"00315272"	"1"	"03804"	"03804"	"2014-07-02 14:30:06"	""	""	"SEQ"	"DNA"	""	""
"0000316449"	"00315273"	"1"	"03804"	"03804"	"2014-07-02 14:38:53"	""	""	"SEQ"	"DNA"	""	""
"0000316450"	"00315274"	"1"	"03804"	"03804"	"2014-07-02 15:43:51"	""	""	"SEQ"	"DNA"	""	""
"0000316451"	"00315275"	"1"	"03804"	"03804"	"2014-07-02 15:49:51"	""	""	"SEQ"	"DNA"	""	""
"0000316452"	"00315276"	"1"	"03804"	"03804"	"2014-07-02 15:54:13"	"03804"	"2014-07-02 15:56:15"	"SEQ"	"DNA"	""	""
"0000316453"	"00315277"	"1"	"03804"	"03804"	"2014-07-03 22:03:18"	""	""	"SEQ"	"DNA"	""	""
"0000316454"	"00315278"	"1"	"03804"	"03804"	"2014-07-03 22:30:25"	""	""	"SEQ"	"DNA"	""	""
"0000316455"	"00315279"	"1"	"03803"	"03804"	"2016-04-12 10:03:20"	"00006"	"2022-04-28 10:28:00"	"SEQ"	"DNA"	""	""
"0000316456"	"00315280"	"1"	"03804"	"03804"	"2016-09-20 15:28:13"	"03804"	"2016-09-20 15:28:44"	"SEQ"	"DNA"	""	""
"0000316457"	"00315281"	"1"	"03804"	"03804"	"2016-09-20 15:32:01"	"03804"	"2016-09-20 15:32:11"	"SEQ"	"DNA"	""	""
"0000316458"	"00315282"	"1"	"03804"	"03804"	"2016-09-20 15:34:48"	""	""	"SEQ"	"DNA"	""	""
"0000316459"	"00315283"	"1"	"03804"	"03804"	"2016-09-20 15:52:34"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316460"	"00315284"	"1"	"03804"	"03804"	"2016-09-20 15:57:55"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316461"	"00315285"	"1"	"03804"	"03804"	"2016-09-20 16:01:28"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316462"	"00315286"	"1"	"03804"	"03804"	"2016-09-20 16:15:53"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316463"	"00315287"	"1"	"03804"	"03804"	"2016-09-20 16:20:07"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316464"	"00315288"	"1"	"03804"	"03804"	"2016-09-20 16:22:22"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316465"	"00315289"	"1"	"03804"	"03804"	"2016-09-20 16:24:39"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316466"	"00315290"	"1"	"03804"	"03804"	"2016-09-20 16:26:41"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316467"	"00315291"	"1"	"03804"	"03804"	"2016-09-20 16:40:18"	"03804"	"2016-09-20 16:40:29"	"SEQ"	"DNA"	""	""
"0000316468"	"00315292"	"1"	"03804"	"03804"	"2016-09-20 16:41:55"	""	""	"SEQ"	"DNA"	""	""
"0000316469"	"00315293"	"1"	"03804"	"03804"	"2016-09-20 16:43:25"	""	""	"SEQ"	"DNA"	""	""
"0000316470"	"00315294"	"1"	"03804"	"03804"	"2016-09-20 16:46:41"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316471"	"00315295"	"1"	"03804"	"03804"	"2016-09-20 19:07:44"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316472"	"00315296"	"1"	"03804"	"03804"	"2016-09-20 19:10:50"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316473"	"00315297"	"1"	"03804"	"03804"	"2017-12-15 23:19:10"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316474"	"00315298"	"1"	"03804"	"03804"	"2017-12-18 13:50:02"	"03804"	"2017-12-18 13:50:31"	"SEQ-NG-I"	"DNA"	""	""
"0000316475"	"00315299"	"1"	"03804"	"03804"	"2017-12-18 13:51:59"	""	""	"SEQ"	"DNA"	""	""
"0000316476"	"00315300"	"1"	"03804"	"03804"	"2017-12-18 13:56:34"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316477"	"00315301"	"1"	"03804"	"03804"	"2017-12-18 13:58:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316478"	"00315302"	"1"	"03804"	"03804"	"2017-12-18 14:00:29"	""	""	"SEQ"	"DNA"	""	""
"0000316479"	"00315303"	"1"	"03804"	"03804"	"2017-12-18 14:03:19"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316480"	"00315304"	"1"	"03804"	"03804"	"2017-12-18 14:09:48"	""	""	"arrayCGH"	"DNA"	""	""
"0000316481"	"00315305"	"1"	"03804"	"03804"	"2017-12-18 14:12:04"	""	""	"arrayCGH"	"DNA"	""	""
"0000316482"	"00315306"	"1"	"03804"	"03804"	"2017-12-18 14:23:52"	""	""	"SEQ"	"DNA"	""	""
"0000316483"	"00315307"	"1"	"03804"	"03804"	"2017-12-18 14:41:01"	""	""	"arrayCGH"	"DNA"	""	""
"0000316484"	"00315308"	"1"	"03804"	"03804"	"2017-12-18 14:57:15"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316485"	"00315309"	"1"	"03804"	"03804"	"2018-06-21 18:54:37"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000316486"	"00315310"	"1"	"03804"	"03804"	"2018-06-21 18:58:45"	""	""	"SEQ"	"DNA"	""	""
"0000316487"	"00315311"	"1"	"03804"	"03804"	"2018-06-21 19:01:41"	""	""	"SEQ"	"DNA"	""	""
"0000329132"	"00327917"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329646"	"00328432"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364576"	"00363348"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364598"	"00363370"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000373900"	"00372668"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000373909"	"00372677"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000380645"	"00379445"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380975"	"00379776"	"1"	"03508"	"03508"	"2021-08-09 09:04:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000383032"	"00381816"	"1"	"00000"	"00008"	"2021-09-03 05:21:17"	""	""	"PCR;SEQ-NG"	"DNA"	"blood or a saliva sample"	""
"0000404083"	"00402842"	"1"	"04221"	"04221"	"2022-02-11 17:07:57"	""	""	"SEQ-NG-I"	"DNA"	"gDNA from peripheral blood"	"whole exome sequencing"
"0000410004"	"00408740"	"1"	"03803"	"03803"	"2022-04-26 20:54:21"	""	""	"SEQ"	"DNA"	"peripheral blood"	""
"0000410005"	"00408741"	"1"	"03803"	"03803"	"2022-04-26 23:18:35"	""	""	"SEQ"	"DNA"	"peripheral blood"	""
"0000415742"	"00414462"	"1"	"00000"	"03840"	"2022-07-28 13:16:36"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000433969"	"00432527"	"1"	"00006"	"00006"	"2023-02-24 09:30:59"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 272
"{{screeningid}}"	"{{geneid}}"
"0000050514"	"PAX2"
"0000133815"	"PAX2"
"0000133816"	"PAX2"
"0000316230"	"PAX2"
"0000316231"	"PAX2"
"0000316232"	"PAX2"
"0000316233"	"PAX2"
"0000316234"	"PAX2"
"0000316235"	"PAX2"
"0000316236"	"PAX2"
"0000316237"	"PAX2"
"0000316238"	"PAX2"
"0000316239"	"PAX2"
"0000316240"	"PAX2"
"0000316241"	"PAX2"
"0000316242"	"PAX2"
"0000316243"	"PAX2"
"0000316244"	"PAX2"
"0000316245"	"PAX2"
"0000316246"	"PAX2"
"0000316247"	"PAX2"
"0000316248"	"PAX2"
"0000316249"	"PAX2"
"0000316250"	"PAX2"
"0000316251"	"PAX2"
"0000316252"	"PAX2"
"0000316253"	"PAX2"
"0000316254"	"PAX2"
"0000316255"	"PAX2"
"0000316256"	"PAX2"
"0000316257"	"PAX2"
"0000316258"	"PAX2"
"0000316259"	"PAX2"
"0000316260"	"PAX2"
"0000316261"	"PAX2"
"0000316262"	"PAX2"
"0000316263"	"PAX2"
"0000316264"	"PAX2"
"0000316265"	"PAX2"
"0000316266"	"PAX2"
"0000316267"	"PAX2"
"0000316268"	"PAX2"
"0000316269"	"PAX2"
"0000316270"	"PAX2"
"0000316271"	"PAX2"
"0000316272"	"PAX2"
"0000316273"	"PAX2"
"0000316274"	"PAX2"
"0000316275"	"PAX2"
"0000316276"	"PAX2"
"0000316277"	"PAX2"
"0000316278"	"PAX2"
"0000316279"	"PAX2"
"0000316280"	"PAX2"
"0000316281"	"PAX2"
"0000316282"	"PAX2"
"0000316283"	"PAX2"
"0000316284"	"PAX2"
"0000316285"	"PAX2"
"0000316286"	"PAX2"
"0000316287"	"PAX2"
"0000316288"	"PAX2"
"0000316289"	"PAX2"
"0000316290"	"PAX2"
"0000316291"	"PAX2"
"0000316292"	"PAX2"
"0000316293"	"PAX2"
"0000316294"	"PAX2"
"0000316295"	"PAX2"
"0000316296"	"PAX2"
"0000316297"	"PAX2"
"0000316298"	"PAX2"
"0000316299"	"PAX2"
"0000316300"	"PAX2"
"0000316301"	"PAX2"
"0000316302"	"PAX2"
"0000316303"	"PAX2"
"0000316304"	"PAX2"
"0000316305"	"PAX2"
"0000316306"	"PAX2"
"0000316307"	"PAX2"
"0000316308"	"PAX2"
"0000316309"	"PAX2"
"0000316310"	"PAX2"
"0000316311"	"PAX2"
"0000316312"	"PAX2"
"0000316313"	"PAX2"
"0000316314"	"PAX2"
"0000316315"	"PAX2"
"0000316316"	"PAX2"
"0000316317"	"PAX2"
"0000316318"	"PAX2"
"0000316319"	"PAX2"
"0000316320"	"PAX2"
"0000316321"	"PAX2"
"0000316322"	"PAX2"
"0000316323"	"PAX2"
"0000316324"	"PAX2"
"0000316325"	"PAX2"
"0000316326"	"PAX2"
"0000316327"	"PAX2"
"0000316328"	"PAX2"
"0000316329"	"PAX2"
"0000316330"	"PAX2"
"0000316331"	"PAX2"
"0000316332"	"PAX2"
"0000316333"	"PAX2"
"0000316334"	"PAX2"
"0000316335"	"PAX2"
"0000316336"	"PAX2"
"0000316337"	"PAX2"
"0000316338"	"PAX2"
"0000316339"	"PAX2"
"0000316340"	"PAX2"
"0000316341"	"PAX2"
"0000316342"	"PAX2"
"0000316343"	"PAX2"
"0000316344"	"PAX2"
"0000316345"	"PAX2"
"0000316346"	"PAX2"
"0000316347"	"PAX2"
"0000316348"	"PAX2"
"0000316349"	"PAX2"
"0000316350"	"PAX2"
"0000316351"	"PAX2"
"0000316352"	"PAX2"
"0000316353"	"PAX2"
"0000316354"	"PAX2"
"0000316355"	"PAX2"
"0000316356"	"PAX2"
"0000316357"	"PAX2"
"0000316358"	"PAX2"
"0000316359"	"PAX2"
"0000316360"	"PAX2"
"0000316361"	"PAX2"
"0000316362"	"PAX2"
"0000316363"	"PAX2"
"0000316364"	"PAX2"
"0000316365"	"PAX2"
"0000316366"	"PAX2"
"0000316367"	"PAX2"
"0000316368"	"PAX2"
"0000316369"	"PAX2"
"0000316370"	"PAX2"
"0000316371"	"PAX2"
"0000316372"	"PAX2"
"0000316373"	"PAX2"
"0000316374"	"PAX2"
"0000316375"	"PAX2"
"0000316376"	"PAX2"
"0000316377"	"PAX2"
"0000316378"	"PAX2"
"0000316379"	"PAX2"
"0000316380"	"PAX2"
"0000316381"	"PAX2"
"0000316382"	"PAX2"
"0000316383"	"PAX2"
"0000316384"	"PAX2"
"0000316385"	"PAX2"
"0000316386"	"PAX2"
"0000316387"	"PAX2"
"0000316388"	"PAX2"
"0000316389"	"PAX2"
"0000316390"	"PAX2"
"0000316391"	"PAX2"
"0000316392"	"PAX2"
"0000316393"	"PAX2"
"0000316394"	"PAX2"
"0000316395"	"PAX2"
"0000316396"	"PAX2"
"0000316397"	"PAX2"
"0000316398"	"PAX2"
"0000316399"	"PAX2"
"0000316400"	"PAX2"
"0000316401"	"PAX2"
"0000316402"	"PAX2"
"0000316403"	"PAX2"
"0000316404"	"PAX2"
"0000316405"	"PAX2"
"0000316406"	"PAX2"
"0000316407"	"PAX2"
"0000316408"	"PAX2"
"0000316409"	"PAX2"
"0000316410"	"PAX2"
"0000316411"	"PAX2"
"0000316412"	"PAX2"
"0000316413"	"PAX2"
"0000316414"	"PAX2"
"0000316415"	"PAX2"
"0000316416"	"PAX2"
"0000316417"	"PAX2"
"0000316418"	"PAX2"
"0000316419"	"PAX2"
"0000316420"	"PAX2"
"0000316421"	"PAX2"
"0000316422"	"PAX2"
"0000316423"	"PAX2"
"0000316424"	"PAX2"
"0000316425"	"PAX2"
"0000316426"	"PAX2"
"0000316427"	"PAX2"
"0000316428"	"PAX2"
"0000316429"	"PAX2"
"0000316430"	"PAX2"
"0000316431"	"PAX2"
"0000316432"	"PAX2"
"0000316433"	"PAX2"
"0000316434"	"PAX2"
"0000316435"	"PAX2"
"0000316436"	"PAX2"
"0000316437"	"PAX2"
"0000316438"	"PAX2"
"0000316439"	"PAX2"
"0000316440"	"PAX2"
"0000316441"	"PAX2"
"0000316442"	"PAX2"
"0000316443"	"PAX2"
"0000316444"	"PAX2"
"0000316445"	"PAX2"
"0000316446"	"PAX2"
"0000316447"	"PAX2"
"0000316448"	"PAX2"
"0000316449"	"PAX2"
"0000316450"	"PAX2"
"0000316451"	"PAX2"
"0000316452"	"PAX2"
"0000316453"	"PAX2"
"0000316454"	"PAX2"
"0000316455"	"LMX1B"
"0000316455"	"PAX2"
"0000316456"	"PAX2"
"0000316457"	"PAX2"
"0000316458"	"PAX2"
"0000316459"	"PAX2"
"0000316460"	"PAX2"
"0000316461"	"PAX2"
"0000316462"	"PAX2"
"0000316463"	"PAX2"
"0000316464"	"PAX2"
"0000316465"	"PAX2"
"0000316466"	"PAX2"
"0000316467"	"PAX2"
"0000316468"	"PAX2"
"0000316469"	"PAX2"
"0000316470"	"PAX2"
"0000316471"	"PAX2"
"0000316472"	"PAX2"
"0000316473"	"PAX2"
"0000316474"	"PAX2"
"0000316475"	"PAX2"
"0000316476"	"PAX2"
"0000316477"	"PAX2"
"0000316478"	"PAX2"
"0000316479"	"PAX2"
"0000316480"	"PAX2"
"0000316481"	"PAX2"
"0000316482"	"PAX2"
"0000316483"	"PAX2"
"0000316484"	"PAX2"
"0000316485"	"PAX2"
"0000316486"	"PAX2"
"0000316487"	"PAX2"
"0000329132"	"PAX2"
"0000329646"	"PAX2"
"0000364576"	"PAX2"
"0000364598"	"PAX2"
"0000380645"	"PAX2"
"0000383032"	"PAX2"
"0000410004"	"PAX2"
"0000410005"	"PAX2"
"0000415742"	"PAX2"
"0000433969"	"PAX2"


## 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 = 379
"{{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}}"
"0000012875"	"3"	"50"	"10"	"102541960"	"102541960"	"subst"	"0"	"00037"	"PAX2_000151"	"g.102541960G>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.100782203G>C"	""	"VUS"	""
"0000012876"	"3"	"50"	"10"	"102558494"	"102558494"	"subst"	"0"	"00037"	"PAX2_000152"	"g.102558494T>C"	""	""	""	""	""	"Germline"	""	""	""	""	""	"g.100798737T>C"	""	"VUS"	""
"0000079494"	"0"	"90"	"10"	"102566199"	"102566214"	"del"	"0"	"00006"	"PAX2_000153"	"g.102566199_102566214del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100806442_100806457del"	""	"pathogenic"	""
"0000223243"	"0"	"90"	"10"	"102509646"	"102509646"	"subst"	"0"	"00006"	"PAX2_000093"	"g.102509646G>A"	""	"{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749889G>A"	""	"pathogenic"	""
"0000223244"	"11"	"90"	"10"	"102568966"	"102568969"	"del"	"0"	"00006"	"PAX2_000155"	"g.102568966_102568969del"	""	"{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}"	""	"892_895delGGCA (Gly298Hisfs*7)"	""	"Germline"	""	""	"0"	""	""	"g.100809209_100809212del"	""	"pathogenic"	""
"0000248196"	"0"	"10"	"10"	"102568983"	"102568983"	"subst"	"0.280205"	"02325"	"PAX2_000133"	"g.102568983A>C"	""	""	""	"PAX2(NM_003988.5):c.909A>C (p.P303=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100809226A>C"	""	"benign"	""
"0000250899"	"0"	"10"	"10"	"102568983"	"102568983"	"subst"	"0.280205"	"02326"	"PAX2_000133"	"g.102568983A>C"	""	""	""	"PAX2(NM_003988.5):c.909A>C (p.P303=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100809226A>C"	""	"benign"	""
"0000251467"	"0"	"10"	"10"	"102510716"	"102510716"	"subst"	"0"	"02326"	"PAX2_000112"	"g.102510716A>C"	""	""	""	"PAX2(NM_003988.5):c.410+68A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100750959A>C"	""	"benign"	""
"0000252623"	"0"	"90"	"10"	"102539253"	"102539253"	"subst"	"0"	"02326"	"PAX2_000061"	"g.102539253A>G"	""	""	""	"PAX2(NM_003988.5):c.411-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100779496A>G"	""	"pathogenic"	""
"0000293427"	"0"	"10"	"10"	"102586747"	"102586747"	"subst"	"0.000173473"	"02330"	"PAX2_000126"	"g.102586747C>T"	""	""	""	"PAX2(NM_003988.5):c.1105-19C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100826990C>T"	""	"benign"	""
"0000293428"	"0"	"10"	"10"	"102510493"	"102510493"	"subst"	"0"	"02330"	"PAX2_000158"	"g.102510493C>T"	""	""	""	"PAX2(NM_003988.5):c.255C>T (p.G85=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100750736C>T"	""	"benign"	""
"0000293429"	"0"	"10"	"10"	"102510598"	"102510598"	"subst"	"0.00291666"	"02330"	"PAX2_000111"	"g.102510598C>T"	""	""	""	"PAX2(NM_003988.4):c.360C>T (p.A120=), PAX2(NM_003988.5):c.360C>T (p.A120=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100750841C>T"	""	"benign"	""
"0000293430"	"0"	"30"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"02330"	"PAX2_000036"	"g.102539335C>A"	""	""	""	"PAX2(NM_000278.3):c.491C>A (p.(Thr164Asn)), PAX2(NM_003988.4):c.491C>A (p.T164N), PAX2(NM_003988.5):c.491C>A (p.T164N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100779578C>A"	""	"likely benign"	""
"0000293431"	"0"	"10"	"10"	"102584448"	"102584448"	"subst"	"0.00020712"	"02330"	"PAX2_000123"	"g.102584448C>T"	""	""	""	"PAX2(NM_003988.5):c.963C>T (p.H321=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100824691C>T"	""	"benign"	""
"0000296772"	"0"	"10"	"10"	"102506070"	"102506070"	"subst"	"0.838406"	"02325"	"PAX2_000156"	"g.102506070G>C"	""	""	""	"PAX2(NM_003988.5):c.43+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100746313G>C"	""	"benign"	""
"0000300605"	"0"	"10"	"10"	"102584647"	"102584647"	"subst"	"0.0029374"	"02326"	"PAX2_000125"	"g.102584647C>A"	""	""	""	"PAX2(NM_003988.5):c.1022-12C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100824890C>A"	""	"benign"	""
"0000300606"	"0"	"70"	"10"	"102510501"	"102510501"	"subst"	"0"	"02326"	"PAX2_000159"	"g.102510501C>T"	""	""	""	"PAX2(NM_003988.5):c.263C>T (p.P88L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100750744C>T"	""	"likely pathogenic"	""
"0000300607"	"0"	"90"	"10"	"102510581"	"102510581"	"subst"	"0"	"02326"	"PAX2_000059"	"g.102510581C>T"	""	""	""	"PAX2(NM_003988.5):c.343C>T (p.R115*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100750824C>T"	""	"pathogenic"	""
"0000300608"	"0"	"30"	"10"	"102510598"	"102510598"	"subst"	"0.00291666"	"02326"	"PAX2_000111"	"g.102510598C>T"	""	""	""	"PAX2(NM_003988.4):c.360C>T (p.A120=), PAX2(NM_003988.5):c.360C>T (p.A120=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100750841C>T"	""	"likely benign"	""
"0000300609"	"0"	"70"	"10"	"102539262"	"102539262"	"subst"	"0"	"02326"	"PAX2_000090"	"g.102539262C>T"	""	""	""	"PAX2(NM_003988.5):c.418C>T (p.R140W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100779505C>T"	""	"likely pathogenic"	""
"0000300610"	"0"	"10"	"10"	"102506070"	"102506070"	"subst"	"0.838406"	"02326"	"PAX2_000156"	"g.102506070G>C"	""	""	""	"PAX2(NM_003988.5):c.43+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100746313G>C"	""	"benign"	""
"0000300611"	"0"	"90"	"10"	"102539277"	"102539277"	"subst"	"0"	"02326"	"PAX2_000115"	"g.102539277C>T"	""	""	""	"PAX2(NM_003988.5):c.433C>T (p.Q145*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100779520C>T"	""	"pathogenic"	""
"0000300612"	"0"	"90"	"10"	"102566253"	"102566253"	"subst"	"0"	"02326"	"PAX2_000091"	"g.102566253T>A"	""	""	""	"PAX2(NM_003988.5):c.683T>A (p.L228*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100806496T>A"	""	"pathogenic"	""
"0000300613"	"0"	"10"	"10"	"102566371"	"102566371"	"subst"	"0.0103241"	"02326"	"PAX2_000120"	"g.102566371G>A"	""	""	""	"PAX2(NM_003988.5):c.792+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100806614G>A"	""	"benign"	""
"0000300614"	"0"	"30"	"10"	"102568808"	"102568808"	"subst"	"0"	"02326"	"PAX2_000121"	"g.102568808C>T"	""	""	""	"PAX2(NM_003988.5):c.793-59C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100809051C>T"	""	"likely benign"	""
"0000300615"	"0"	"10"	"10"	"102568872"	"102568872"	"subst"	"0.0734715"	"02326"	"PAX2_000122"	"g.102568872C>T"	""	""	""	"PAX2(NM_003988.5):c.798C>T (p.N266=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100809115C>T"	""	"benign"	""
"0000300616"	"0"	"50"	"10"	"102584466"	"102584466"	"subst"	"0.000154354"	"02326"	"PAX2_000124"	"g.102584466G>A"	""	""	""	"PAX2(NM_003988.5):c.981G>A (p.Q327=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100824709G>A"	""	"VUS"	""
"0000305046"	"0"	"30"	"10"	"102510598"	"102510598"	"subst"	"0.00291666"	"01943"	"PAX2_000111"	"g.102510598C>T"	""	""	""	"PAX2(NM_003988.4):c.360C>T (p.A120=), PAX2(NM_003988.5):c.360C>T (p.A120=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100750841C>T"	""	"likely benign"	""
"0000305047"	"0"	"50"	"10"	"102566300"	"102566300"	"subst"	"0"	"01943"	"PAX2_000119"	"g.102566300G>A"	""	""	""	"PAX2(NM_003988.4):c.730G>A (p.V244I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100806543G>A"	""	"VUS"	""
"0000321733"	"0"	"50"	"10"	"102546735"	"102546735"	"subst"	"0"	"01804"	"PAX2_000117"	"g.102546735G>T"	""	""	""	"PAX2(NM_000278.3):c.616+5613G>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100786978G>T"	""	"VUS"	""
"0000336895"	"0"	"10"	"10"	"102506070"	"102506070"	"subst"	"0.838406"	"02327"	"PAX2_000156"	"g.102506070G>C"	""	""	""	"PAX2(NM_003988.5):c.43+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100746313G>C"	""	"benign"	""
"0000339225"	"0"	"30"	"10"	"102505858"	"102505858"	"subst"	"0"	"02327"	"PAX2_000128"	"g.102505858G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100746101G>T"	""	"likely benign"	""
"0000340700"	"0"	"10"	"10"	"102568872"	"102568872"	"subst"	"0.0734715"	"02327"	"PAX2_000122"	"g.102568872C>T"	""	""	""	"PAX2(NM_003988.5):c.798C>T (p.N266=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100809115C>T"	""	"benign"	""
"0000340846"	"0"	"30"	"10"	"102568893"	"102568893"	"subst"	"0.000219325"	"02327"	"PAX2_000132"	"g.102568893G>C"	""	""	""	"PAX2(NM_003988.5):c.819G>C (p.L273=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100809136G>C"	""	"likely benign"	""
"0000340908"	"0"	"10"	"10"	"102568983"	"102568983"	"subst"	"0.280205"	"02327"	"PAX2_000133"	"g.102568983A>C"	""	""	""	"PAX2(NM_003988.5):c.909A>C (p.P303=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100809226A>C"	""	"benign"	""
"0000341222"	"0"	"50"	"10"	"102541035"	"102541035"	"subst"	"3.65565E-5"	"02327"	"PAX2_000131"	"g.102541035G>A"	""	""	""	"PAX2(NM_000278.5):c.529G>A (p.(Ala177Thr)), PAX2(NM_003987.5):c.529G>A (p.A177T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100781278G>A"	""	"VUS"	""
"0000341755"	"0"	"90"	"10"	"102510581"	"102510581"	"subst"	"0"	"02327"	"PAX2_000059"	"g.102510581C>T"	""	""	""	"PAX2(NM_003988.5):c.343C>T (p.R115*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100750824C>T"	""	"pathogenic"	""
"0000345919"	"0"	"50"	"10"	"102509532"	"102509532"	"subst"	"0"	"02327"	"PAX2_000129"	"g.102509532G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100749775G>C"	""	"VUS"	""
"0000350439"	"0"	"90"	"10"	"102509535"	"102509535"	"del"	"0"	"02327"	"PAX2_000006"	"g.102509535del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100749778del"	""	"pathogenic"	""
"0000350804"	"0"	"10"	"10"	"102505815"	"102505815"	"subst"	"0"	"02327"	"PAX2_000127"	"g.102505815A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.100746058A>G"	""	"benign"	""
"0000538872"	"0"	"10"	"10"	"102495480"	"102495480"	"subst"	"0"	"02330"	"PAX2_000134"	"g.102495480G>T"	""	""	""	"PAX2(NM_001304569.2):c.15G>T (p.A5=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100735723G>T"	""	"benign"	""
"0000538873"	"0"	"50"	"10"	"102509529"	"102509529"	"subst"	"0"	"02327"	"PAX2_000135"	"g.102509529G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100749772G>C"	""	"VUS"	""
"0000538874"	"0"	"90"	"10"	"102509535"	"102509535"	"dup"	"0"	"01804"	"PAX2_000001"	"g.102509535dup"	""	""	""	"PAX2(NM_003987.3):c.76dup (p.(Val26GlyfsTer28)), PAX2(NM_003987.5):c.76dupG (p.V26Gfs*28), PAX2(NM_003988.5):c.76dupG (p.V26Gfs*28)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000538875"	"0"	"50"	"10"	"102509562"	"102509562"	"subst"	"0"	"01804"	"PAX2_000137"	"g.102509562G>C"	""	""	""	"PAX2(NM_000278.3):c.103G>C (p.(Asp35His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100749805G>C"	""	"VUS"	""
"0000538876"	"0"	"90"	"10"	"102510575"	"102510575"	"del"	"0"	"01943"	"PAX2_000138"	"g.102510575del"	""	""	""	"PAX2(NM_003988.4):c.337delG (p.E113Rfs*46)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100750818del"	""	"pathogenic"	""
"0000538877"	"0"	"50"	"10"	"102510648"	"102510648"	"subst"	"0"	"02327"	"PAX2_000139"	"g.102510648G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100750891G>A"	""	"VUS"	""
"0000538878"	"0"	"50"	"10"	"102541068"	"102541068"	"subst"	"0"	"01804"	"PAX2_000140"	"g.102541068A>G"	""	""	""	"PAX2(NM_000278.3):c.562A>G (p.(Asn188Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100781311A>G"	""	"VUS"	""
"0000538879"	"0"	"50"	"10"	"102566208"	"102566208"	"subst"	"0"	"02327"	"PAX2_000141"	"g.102566208C>G"	""	""	""	"PAX2(NM_003987.5):c.707C>G (p.P236R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100806451C>G"	""	"VUS"	""
"0000538880"	"0"	"50"	"10"	"102584407"	"102584407"	"subst"	"2.84292E-5"	"02329"	"PAX2_000142"	"g.102584407C>T"	""	""	""	"PAX2(NM_003988.5):c.922C>T (p.R308C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100824650C>T"	""	"VUS"	""
"0000612227"	"0"	"90"	"10"	"102566255"	"102566255"	"subst"	"0"	"02327"	"PAX2_000062"	"g.102566255C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000622309"	"0"	"30"	"10"	"102539297"	"102539297"	"subst"	"0.000116302"	"01943"	"PAX2_000065"	"g.102539297G>A"	""	""	""	"PAX2(NM_003988.4):c.453G>A (p.P151=), PAX2(NM_003988.5):c.453G>A (p.P151=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100779540G>A"	""	"likely benign"	""
"0000622310"	"0"	"30"	"10"	"102541128"	"102541128"	"subst"	"4.4678E-5"	"01943"	"PAX2_000144"	"g.102541128G>C"	""	""	""	"PAX2(NM_003988.4):c.616+6G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100781371G>C"	""	"likely benign"	""
"0000656402"	"0"	"30"	"10"	"102584668"	"102584668"	"subst"	"0"	"01943"	"PAX2_000146"	"g.102584668T>A"	""	""	""	"PAX2(NM_003988.4):c.1031T>A (p.V344D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.100824911T>A"	""	"likely benign"	""
"0000678750"	"0"	"90"	"10"	"102510464"	"102510464"	"subst"	"0"	"02326"	"PAX2_000014"	"g.102510464G>A"	""	""	""	"PAX2(NM_003988.5):c.226G>A (p.G76S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000678751"	"0"	"30"	"10"	"102539321"	"102539321"	"subst"	"0"	"01943"	"PAX2_000148"	"g.102539321C>T"	""	""	""	"PAX2(NM_003988.4):c.477C>T (p.T159=), PAX2(NM_003988.5):c.477C>T (p.T159=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690631"	"0"	"30"	"10"	"102541035"	"102541035"	"subst"	"3.65565E-5"	"02325"	"PAX2_000131"	"g.102541035G>A"	""	""	""	"PAX2(NM_000278.5):c.529G>A (p.(Ala177Thr)), PAX2(NM_003987.5):c.529G>A (p.A177T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000698380"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Sanyanusin 1995:8589702}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698381"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Sanyanusin 1995:8589702}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698382"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698383"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698384"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Cheong 2007:17541647}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698385"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Cheong 2007:17541647}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698386"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Cheong 2007:17541647}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698387"	"20"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Cheong 2007:17541647}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698388"	"20"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Cheong 2007:17541647}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698389"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Amiel 2000 :11093271}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698390"	"10"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Amiel 2000:11093271}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698391"	"10"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Amiel 2000:11093271}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698392"	"10"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Amiel 2000:11093271}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698393"	"10"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Amiel 2000:11093271}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698394"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Weber 2006:16971658}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698395"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Weber 2006:16971658}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698396"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Weber 2006:16971658}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698397"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Weber 2006:16971658}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698398"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Salomon 2001:11168927}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698399"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Salomon 2001:11168927}"	""	""	"germline mosaicism"	"Somatic"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698400"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Schimmenti 1997:9106533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698401"	"21"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Schimmenti 1997:9106533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698402"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Weber 2006:16971658}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698403"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Schimmenti 1997:9106533}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698404"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Schimmenti 1999:10533062}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698405"	"10"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Bower 2012:22213154}"	""	""	"germline and somatic mosaicism"	"Somatic"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698406"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Bower 2012:22213154}"	""	""	"germline and somatic mosaicism"	"Somatic"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698407"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698408"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698409"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698410"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Tagami 2010:21151632}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698411"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698412"	"20"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698413"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Porteous 2000:10587573}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698414"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Beby 2010:20075965}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698415"	"0"	"99"	"10"	"102509518"	"102509518"	"del"	"0"	"03804"	"PAX2_000002"	"g.102509518del"	""	"{PMID:Chung 2001:11730657}"	""	""	"somatic mosaicism"	"Somatic"	""	""	"0"	""	""	"g.100749761del"	""	"pathogenic"	""
"0000698416"	"0"	"99"	"10"	"102509527"	"102509527"	"del"	"0"	"03804"	"PAX2_000003"	"g.102509527del"	""	"{PMID:Cunliffe 1998:9783702}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749770del"	""	"pathogenic"	""
"0000698417"	"0"	"99"	"10"	"102509528"	"102509528"	"del"	"0"	"03804"	"PAX2_000004"	"g.102509528del"	""	"{PMID:Negrisolo 2010:21108633}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749771del"	""	"pathogenic"	""
"0000698418"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Thomas 2011:21380624}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698419"	"0"	"77"	"10"	"102509530"	"102509530"	"subst"	"0"	"03804"	"PAX2_000005"	"g.102509530G>A"	""	"{PMID:Thomas 2011:21380624}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749773G>A"	""	"likely pathogenic"	""
"0000698420"	"21"	"99"	"10"	"102509535"	"102509535"	"del"	"0"	"03804"	"PAX2_000006"	"g.102509535del"	""	"{PMID:Schimmenti 1999}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100749778del"	""	"pathogenic"	""
"0000698421"	"0"	"99"	"10"	"102509535"	"102509535"	"del"	"0"	"03804"	"PAX2_000006"	"g.102509535del"	""	"{PMID:Schimmenti 1999:10533062}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778del"	""	"pathogenic"	""
"0000698422"	"0"	"99"	"10"	"102509534"	"102509535"	"dup"	"0"	"03804"	"PAX2_000007"	"g.102509534_102509535dup"	""	"{PMID:Amiel 2000:11093271}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749777_100749778dup"	""	"pathogenic"	""
"0000698423"	"0"	"77"	"10"	"102509551"	"102509556"	"del"	"0"	"03804"	"PAX2_000008"	"g.102509551_102509556del"	""	"{PMID:Weber 2006:16971658}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749794_100749799del"	""	"likely pathogenic"	""
"0000698424"	"0"	"77"	"10"	"102509574"	"102509579"	"del"	"0"	"03804"	"PAX2_000009"	"g.102509574_102509579del"	""	"{PMID:Salomon 2001:11168927}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749817_100749822del"	""	"likely pathogenic"	""
"0000698425"	"0"	"99"	"10"	"102509588"	"102509609"	"del"	"0"	"03804"	"PAX2_000010"	"g.102509588_102509609del"	""	"{PMID:Schimmenti 1997:9106533}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749831_100749852del"	""	"pathogenic"	""
"0000698426"	"0"	"99"	"10"	"102509598"	"102509607"	"del"	"0"	"03804"	"PAX2_000011"	"g.102509598_102509607del"	""	"{PMID:Fletcher 2005:16049068}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749841_100749850del"	""	"pathogenic"	""
"0000698427"	"21"	"99"	"10"	"102509598"	"102509607"	"del"	"0"	"03804"	"PAX2_000011"	"g.102509598_102509607del"	""	"{PMID:Fletcher 2005:16049068}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100749841_100749850del"	""	"pathogenic"	""
"0000698428"	"21"	"99"	"10"	"102509598"	"102509607"	"del"	"0"	"03804"	"PAX2_000011"	"g.102509598_102509607del"	""	"{PMID:Fletcher 2005:16049068}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100749841_100749850del"	""	"pathogenic"	""
"0000698429"	"0"	"99"	"10"	"102509598"	"102509607"	"del"	"0"	"03804"	"PAX2_000011"	"g.102509598_102509607del"	""	"{PMID:Fletcher 2005:16049068}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749841_100749850del"	""	"pathogenic"	""
"0000698430"	"0"	"99"	"10"	"102509598"	"102509607"	"del"	"0"	"03804"	"PAX2_000011"	"g.102509598_102509607del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749841_100749850del"	""	"pathogenic"	""
"0000698431"	"0"	"99"	"10"	"102509598"	"102509607"	"del"	"0"	"03804"	"PAX2_000011"	"g.102509598_102509607del"	""	"{PMID:Fletcher 2005:16049068}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749841_100749850del"	""	"pathogenic"	""
"0000698432"	"21"	"77"	"10"	"102509671"	"102509671"	"subst"	"0"	"03804"	"PAX2_000056"	"g.102509671G>C"	""	"{PMID:Higashide 2005:15652857}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100749914G>C"	""	"likely pathogenic"	""
"0000698433"	"0"	"77"	"10"	"102509671"	"102509671"	"subst"	"0"	"03804"	"PAX2_000056"	"g.102509671G>C"	""	"{PMID:Higashide 2005:15652857}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749914G>C"	""	"likely pathogenic"	""
"0000698434"	"0"	"77"	"10"	"102510459"	"102510464"	"dup"	"0"	"03804"	"PAX2_000013"	"g.102510459_102510464dup"	""	"{PMID:DeVriendt 1998:9760197}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750702_100750707dup"	""	"likely pathogenic"	""
"0000698435"	"10"	"77"	"10"	"102510464"	"102510464"	"subst"	"0"	"03804"	"PAX2_000014"	"g.102510464G>A"	""	"{PMID:Devriendt 1998:9760197}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698436"	"20"	"77"	"10"	"102510464"	"102510464"	"subst"	"0"	"03804"	"PAX2_000014"	"g.102510464G>A"	""	"{PMID:Devriendt 1998:9760197}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698437"	"20"	"77"	"10"	"102510464"	"102510464"	"subst"	"0"	"03804"	"PAX2_000014"	"g.102510464G>A"	""	"{PMID:Devriendt 1998:9760197}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698438"	"21"	"77"	"10"	"102510464"	"102510464"	"subst"	"0"	"03804"	"PAX2_000014"	"g.102510464G>A"	""	"{PMID:Devriendt 1998:9760197}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698439"	"21"	"77"	"10"	"102510464"	"102510464"	"subst"	"0"	"03804"	"PAX2_000014"	"g.102510464G>A"	""	"{PMID:Devriendt 1998:9760197}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698440"	"11"	"77"	"10"	"102510464"	"102510464"	"subst"	"0"	"03804"	"PAX2_000014"	"g.102510464G>A"	""	"{PMID:Devriendt 1998:9760197}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698441"	"11"	"99"	"10"	"102510527"	"102510527"	"del"	"0"	"03804"	"PAX2_000015"	"g.102510527del"	""	"{PMID:Amiel 2000:11093271}"	""	""	"de novo in father"	"Germline"	""	""	"0"	""	""	"g.100750770del"	""	"pathogenic"	""
"0000698442"	"0"	"99"	"10"	"102510527"	"102510527"	"del"	"0"	"03804"	"PAX2_000015"	"g.102510527del"	""	"{PMID:Amiel 2000:11093271}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750770del"	""	"pathogenic"	""
"0000698443"	"0"	"99"	"10"	"102510548"	"102510548"	"subst"	"0"	"03804"	"PAX2_000016"	"g.102510548C>T"	""	"{PMID:Cheong 2007:17541647}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750791C>T"	""	"pathogenic"	""
"0000698444"	"0"	"99"	"10"	"102510548"	"102510548"	"subst"	"0"	"03804"	"PAX2_000016"	"g.102510548C>T"	""	"{PMID:Cheong 2007:17541647}, {PMID:Samimi 2008:18609495}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750791C>T"	""	"pathogenic"	""
"0000698445"	"0"	"99"	"10"	"102510581"	"102510581"	"subst"	"0"	"03804"	"PAX2_000059"	"g.102510581C>T"	""	"{PMID:Schimmenti 2003:14566649}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750824C>T"	""	"pathogenic"	""
"0000698446"	"21"	"99"	"10"	"102510581"	"102510581"	"subst"	"0"	"03804"	"PAX2_000059"	"g.102510581C>T"	""	"{PMID:Schimmenti 2003:14566649}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750824C>T"	""	"pathogenic"	""
"0000698447"	"21"	"99"	"10"	"102510581"	"102510581"	"subst"	"0"	"03804"	"PAX2_000059"	"g.102510581C>T"	""	"{PMID:Schimmenti 2003:14566649}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750824C>T"	""	"pathogenic"	""
"0000698448"	"0"	"77"	"10"	"102510627"	"102510627"	"subst"	"0"	"03804"	"PAX2_000018"	"g.102510627C>A"	""	"{PMID:Miyazawa 2009:19954729}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750870C>A"	""	"likely pathogenic"	""
"0000698449"	"0"	"99"	"10"	"102510630"	"102510630"	"del"	"0"	"03804"	"PAX2_000019"	"g.102510630del"	""	"{PMID:Martinovic-Bouriel 2010:20358591}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750873del"	""	"pathogenic"	""
"0000698450"	"10"	"99"	"10"	"102539253"	"102539253"	"subst"	"0"	"03804"	"PAX2_000061"	"g.102539253A>G"	""	"{PMID:Weber 2006:16971658}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100779496A>G"	""	"pathogenic"	""
"0000698451"	"11"	"77"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750812G>A"	""	"likely pathogenic"	""
"0000698452"	"11"	"77"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750812G>A"	""	"likely pathogenic"	""
"0000698453"	"11"	"77"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750812G>A"	""	"likely pathogenic"	""
"0000698454"	"11"	"77"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750812G>A"	""	"likely pathogenic"	""
"0000698455"	"11"	"77"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750812G>A"	""	"likely pathogenic"	""
"0000698456"	"11"	"77"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750812G>A"	""	"likely pathogenic"	""
"0000698457"	"11"	"77"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750812G>A"	""	"likely pathogenic"	""
"0000698458"	"11"	"77"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750812G>A"	""	"likely pathogenic"	""
"0000698459"	"0"	"77"	"10"	"102510653"	"102510653"	"subst"	"0"	"03804"	"PAX2_000023"	"g.102510653G>A"	""	"{PMID:Negrisolo 2011:21108633}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750896G>A"	""	"likely pathogenic"	""
"0000698460"	"0"	"77"	"10"	"102541002"	"102541002"	"subst"	"0"	"03804"	"PAX2_000024"	"g.102541002G>T"	""	"{PMID:Thomas 2011:21380624}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100781245G>T"	""	"likely pathogenic"	""
"0000698461"	"11"	"99"	"10"	"102541067"	"102541067"	"del"	"0"	"03804"	"PAX2_000025"	"g.102541067del"	""	"{PMID:Sanyanusin 1995:7795640}"	""	""	"de novo in father"	"Germline"	""	""	"0"	""	""	"g.100781310del"	""	"pathogenic"	""
"0000698462"	"11"	"99"	"10"	"102541067"	"102541067"	"del"	"0"	"03804"	"PAX2_000025"	"g.102541067del"	""	"{PMID:Sanyanusin 1995:7795640}"	""	""	"de novo in father"	"Germline"	""	""	"0"	""	""	"g.100781310del"	""	"pathogenic"	""
"0000698463"	"11"	"99"	"10"	"102541067"	"102541067"	"del"	"0"	"03804"	"PAX2_000025"	"g.102541067del"	""	"{PMID:Sanyanusin 1995:7795640}"	""	""	"de novo in father"	"Germline"	""	""	"0"	""	""	"g.100781310del"	""	"pathogenic"	""
"0000698464"	"0"	"99"	"10"	"102541067"	"102541067"	"del"	"0"	"03804"	"PAX2_000025"	"g.102541067del"	""	"{PMID:Sanyanusin 1995:7795640}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100781310del"	""	"pathogenic"	""
"0000698465"	"0"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698466"	"11"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698467"	"11"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698468"	"11"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698469"	"21"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698470"	"21"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698471"	"21"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698472"	"11"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698473"	"11"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Porteous 2001:11594973}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698474"	"0"	"99"	"10"	"102566276"	"102566276"	"subst"	"0"	"03804"	"PAX2_000027"	"g.102566276C>T"	""	"{PMID:Nishimoto 2001:11461952}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100806519C>T"	""	"pathogenic"	""
"0000698475"	"21"	"99"	"10"	"102584439"	"102584439"	"subst"	"0"	"03804"	"PAX2_000028"	"g.102584439C>A"	""	"{PMID:Nishimoto 2001:11461952}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698476"	"0"	"99"	"10"	"102584439"	"102584439"	"subst"	"0"	"03804"	"PAX2_000028"	"g.102584439C>A"	""	"{PMID:Nishimoto 2001:11461952}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698477"	"0"	"99"	"10"	"102568917"	"102568917"	"del"	"0"	"03804"	"PAX2_000029"	"g.102568917del"	""	"{PMID:Taranta 2007:17269592}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100809160del"	""	"pathogenic"	""
"0000698478"	"21"	"99"	"10"	"102568917"	"102568917"	"del"	"0"	"03804"	"PAX2_000029"	"g.102568917del"	""	"{PMID:Taranta 2007:17269592}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100809160del"	""	"pathogenic"	""
"0000698479"	"21"	"99"	"10"	"102568917"	"102568917"	"del"	"0"	"03804"	"PAX2_000029"	"g.102568917del"	""	"{PMID:Taranta 2007:17269592}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100809160del"	""	"pathogenic"	""
"0000698480"	"21"	"99"	"10"	"102568917"	"102568917"	"del"	"0"	"03804"	"PAX2_000029"	"g.102568917del"	""	"{PMID:Taranta 2007:17269592}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100809160del"	""	"pathogenic"	""
"0000698481"	"21"	"99"	"10"	"102568917"	"102568917"	"del"	"0"	"03804"	"PAX2_000029"	"g.102568917del"	""	"{PMID:Taranta 2007:17269592}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100809160del"	""	"pathogenic"	""
"0000698482"	"21"	"99"	"10"	"102566364"	"102566364"	"subst"	"0"	"03804"	"PAX2_000030"	"g.102566364T>C"	""	"{PMID:Martinovic-Bouriel 2010:20358591}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806607T>C"	""	"pathogenic"	""
"0000698483"	"11"	"99"	"10"	"102566364"	"102566364"	"subst"	"0"	"03804"	"PAX2_000030"	"g.102566364T>C"	""	"{PMID:Martinovic-Bouriel 2010:20358591}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806607T>C"	""	"pathogenic"	""
"0000698484"	"0"	"99"	"10"	"102566364"	"102566364"	"subst"	"0"	"03804"	"PAX2_000030"	"g.102566364T>C"	""	"{PMID:Martinovic-Bouriel 2010:20358591}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806607T>C"	""	"pathogenic"	""
"0000698485"	"21"	"77"	"10"	"102509665"	"102509665"	"subst"	"0"	"03804"	"PAX2_000031"	"g.102509665T>C"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749908T>C"	""	"likely pathogenic"	""
"0000698486"	"21"	"77"	"10"	"102509665"	"102509665"	"subst"	"0"	"03804"	"PAX2_000031"	"g.102509665T>C"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749908T>C"	""	"likely pathogenic"	""
"0000698487"	"0"	"77"	"10"	"102509665"	"102509665"	"subst"	"0"	"03804"	"PAX2_000031"	"g.102509665T>C"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749908T>C"	""	"likely pathogenic"	""
"0000698488"	"0"	"99"	"10"	"102539292"	"102539292"	"del"	"0"	"03804"	"PAX2_000032"	"g.102539292del"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100779535del"	""	"pathogenic"	""
"0000698489"	"0"	"99"	"10"	"102566202"	"102566202"	"subst"	"0"	"03804"	"PAX2_000033"	"g.102566202C>G"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806445C>G"	""	"pathogenic"	""
"0000698490"	"0"	"99"	"10"	"102510581"	"102510581"	"subst"	"0"	"03804"	"PAX2_000059"	"g.102510581C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750824C>T"	""	"pathogenic"	""
"0000698491"	"11"	"77"	"10"	"102510488"	"102510488"	"subst"	"0"	"03804"	"PAX2_000034"	"g.102510488G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750731G>A"	""	"likely pathogenic"	""
"0000698492"	"11"	"77"	"10"	"102510488"	"102510488"	"subst"	"0"	"03804"	"PAX2_000034"	"g.102510488G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750731G>A"	""	"likely pathogenic"	""
"0000698493"	"11"	"77"	"10"	"102510488"	"102510488"	"subst"	"0"	"03804"	"PAX2_000034"	"g.102510488G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750731G>A"	""	"likely pathogenic"	""
"0000698494"	"11"	"77"	"10"	"102510488"	"102510488"	"subst"	"0"	"03804"	"PAX2_000034"	"g.102510488G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750731G>A"	""	"likely pathogenic"	""
"0000698495"	"11"	"77"	"10"	"102510488"	"102510488"	"subst"	"0"	"03804"	"PAX2_000034"	"g.102510488G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750731G>A"	""	"likely pathogenic"	""
"0000698496"	"0"	"77"	"10"	"102510488"	"102510488"	"subst"	"0"	"03804"	"PAX2_000034"	"g.102510488G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750731G>A"	""	"likely pathogenic"	""
"0000698497"	"10"	"77"	"10"	"102510626"	"102510626"	"subst"	"0"	"03804"	"PAX2_000060"	"g.102510626C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750869C>T"	""	"likely pathogenic"	""
"0000698498"	"10"	"33"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"03804"	"PAX2_000036"	"g.102539335C>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100779578C>A"	""	"likely benign"	""
"0000698499"	"21"	"77"	"10"	"102510626"	"102510626"	"subst"	"0"	"03804"	"PAX2_000060"	"g.102510626C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	"de novo in mother (grandpaternal allele)"	"Germline"	""	""	"0"	""	""	"g.100750869C>T"	""	"likely pathogenic"	""
"0000698500"	"21"	"33"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"03804"	"PAX2_000036"	"g.102539335C>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100779578C>A"	""	"likely benign"	""
"0000698501"	"21"	"77"	"10"	"102510626"	"102510626"	"subst"	"0"	"03804"	"PAX2_000060"	"g.102510626C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750869C>T"	""	"likely pathogenic"	""
"0000698502"	"21"	"33"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"03804"	"PAX2_000036"	"g.102539335C>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100779578C>A"	""	"likely benign"	""
"0000698503"	"10"	"33"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"03804"	"PAX2_000036"	"g.102539335C>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100779578C>A"	""	"likely benign"	""
"0000698504"	"11"	"99"	"10"	"102566273"	"102566273"	"subst"	"0"	"03804"	"PAX2_000063"	"g.102566273C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806516C>T"	""	"pathogenic"	""
"0000698505"	"0"	"99"	"10"	"102566273"	"102566273"	"subst"	"0"	"03804"	"PAX2_000063"	"g.102566273C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806516C>T"	""	"pathogenic"	""
"0000698506"	"0"	"99"	"10"	"102566336"	"102566336"	"del"	"0"	"03804"	"PAX2_000038"	"g.102566336del"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806579del"	""	"pathogenic"	""
"0000698507"	"0"	"99"	"10"	"102568899"	"102568899"	"delins"	"0"	"03804"	"PAX2_000039"	"g.102568899delinsGC"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100809142delinsGC"	""	"pathogenic"	""
"0000698508"	"0"	"99"	"10"	"102568980"	"102568980"	"subst"	"0"	"03804"	"PAX2_000040"	"g.102568980C>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698509"	"0"	"55"	"10"	"102586835"	"102586835"	"subst"	"2.04931E-5"	"03804"	"PAX2_000041"	"g.102586835G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100827078G>A"	""	"VUS"	""
"0000698510"	"0"	"99"	"10"	"95210010"	"103110010"	"del"	"0"	"03804"	"PAX2_000069"	"g.(?_95210010)_(103110010_?)del"	""	"{PMID:Benetti 2007:17403695}"	""	"hg18:g.(?_95,200,000)_(103,100,000_?)del"	"genome build not reported, assumed to be hg18, deletion encompasses 90 genes including PAX2"	"De novo"	""	""	"0"	""	"46,XX,del(10)(q23.2q24.3)"	"g.(?_93450253)_(101350253_?)del"	""	"pathogenic"	""
"0000698511"	"0"	"99"	"10"	"0"	"0"	""	"0"	"03804"	"PAX2_000043"	"g.?"	""	"{PMID:Narahara 1997:9132492}"	""	"46,XY,t(10;13)(q24.3q12.3)"	"translocation breakpoint believed to localize to intron 3 or 4 by Southern blot RFLP analysis"	"De novo"	""	""	"0"	""	"46,XY,t(10;13)(q24.3q12.3)"	""	""	"pathogenic"	""
"0000698512"	"0"	"99"	"10"	"102506061"	"102506061"	"subst"	"0"	"03804"	"PAX2_000044"	"g.102506061G>C"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100746304G>C"	""	"pathogenic"	""
"0000698513"	"0"	"77"	"10"	"102509533"	"102509533"	"subst"	"0"	"03804"	"PAX2_000045"	"g.102509533G>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698514"	"21"	"77"	"10"	"102509533"	"102509533"	"subst"	"0"	"03804"	"PAX2_000045"	"g.102509533G>T"	""	"{PMID:Bower 2012:22213154}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698515"	"0"	"77"	"10"	"102509557"	"102509557"	"subst"	"0"	"03804"	"PAX2_000046"	"g.102509557T>G"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749800T>G"	""	"likely pathogenic"	""
"0000698516"	"0"	"77"	"10"	"102509641"	"102509641"	"subst"	"0"	"03804"	"PAX2_000047"	"g.102509641G>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749884G>T"	""	"likely pathogenic"	""
"0000698517"	"0"	"99"	"10"	"102509643"	"102509657"	"del"	"0"	"03804"	"PAX2_000048"	"g.102509643_102509657del"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749886_100749900del"	""	"pathogenic"	""
"0000698518"	"21"	"99"	"10"	"102566363"	"102566363"	"subst"	"0"	"03804"	"PAX2_000049"	"g.102566363G>C"	""	"{PMID:Bower 2012:22213154}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100806606G>C"	""	"pathogenic"	""
"0000698519"	"21"	"99"	"10"	"102566363"	"102566363"	"subst"	"0"	"03804"	"PAX2_000049"	"g.102566363G>C"	""	"{PMID:Bower 2012:22213154}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100806606G>C"	""	"pathogenic"	""
"0000698520"	"11"	"77"	"10"	"102510588"	"102510588"	"subst"	"0"	"03804"	"PAX2_000050"	"g.102510588G>C"	""	"{PMID:Bower 2012:22213154}, {PMID:Madariaga 2013:23539225}"	""	""	"de novo in father"	"Germline"	""	""	"0"	""	""	"g.100750831G>C"	""	"likely pathogenic"	""
"0000698521"	"3"	"55"	"10"	"102584739"	"102584739"	"subst"	"0"	"03804"	"PAX2_000051"	"g.102584739A>T"	""	"{PMID:Bower 2012:22213154}"	""	"NM_03998.3:1102A>T (p.(Thre368Ser)"	"This exon is not included in reference transcript.  Amino acid change in published field is NM_03998.3:c.1102A>T (p.(Thre368Ser)"	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000698522"	"0"	"55"	"10"	"102510653"	"102510653"	"subst"	"0"	"03804"	"PAX2_000023"	"g.102510653G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750896G>A"	""	"VUS"	""
"0000698523"	"0"	"99"	"10"	"102510466"	"102510489"	"dup"	"0"	"03804"	"PAX2_000052"	"g.102510466_102510489dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750709_100750732dup"	""	"pathogenic"	""
"0000698524"	"20"	"99"	"10"	"102510466"	"102510489"	"dup"	"0"	"03804"	"PAX2_000052"	"g.102510466_102510489dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750709_100750732dup"	""	"pathogenic"	""
"0000698525"	"10"	"99"	"10"	"102510466"	"102510489"	"dup"	"0"	"03804"	"PAX2_000052"	"g.102510466_102510489dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750709_100750732dup"	""	"pathogenic"	""
"0000698526"	"21"	"99"	"10"	"102510457"	"102510457"	"subst"	"0"	"03804"	"PAX2_000057"	"g.102510457C>G"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750700C>G"	""	"pathogenic"	""
"0000698527"	"21"	"99"	"10"	"102510457"	"102510457"	"subst"	"0"	"03804"	"PAX2_000057"	"g.102510457C>G"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750700C>G"	""	"pathogenic"	""
"0000698528"	"0"	"99"	"10"	"102510457"	"102510457"	"subst"	"0"	"03804"	"PAX2_000057"	"g.102510457C>G"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750700C>G"	""	"pathogenic"	""
"0000698529"	"11"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698530"	"21"	"97"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698531"	"21"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698532"	"11"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698533"	"11"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698534"	"11"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698535"	"21"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698536"	"21"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698537"	"0"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698538"	"21"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698539"	"11"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698540"	"21"	"99"	"10"	"102510461"	"102510463"	"dup"	"0"	"03804"	"PAX2_000054"	"g.102510461_102510463dup"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750704_100750706dup"	""	"pathogenic"	""
"0000698541"	"0"	"77"	"10"	"102539263"	"102539263"	"subst"	"0"	"03804"	"PAX2_000055"	"g.102539263G>A"	""	"{PMID:Weber 2006:16971658}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100779506G>A"	""	"likely pathogenic"	""
"0000698542"	"0"	"99"	"10"	"102539253"	"102539253"	"subst"	"0"	"03804"	"PAX2_000061"	"g.102539253A>G"	""	"{PMID:Weber 2006:16971658}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100779496A>G"	""	"pathogenic"	""
"0000698543"	"0"	"77"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750812G>A"	""	"likely pathogenic"	""
"0000698544"	"0"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698545"	"11"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698546"	"11"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698547"	"11"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698548"	"0"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698549"	"11"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Ford 2001:11241473}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698550"	"11"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Ford 2001:11241473}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698551"	"11"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Ford 2001:11241473}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698552"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Ford 2001:11241473}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698553"	"0"	"99"	"10"	"102510581"	"102510581"	"subst"	"0"	"03804"	"PAX2_000059"	"g.102510581C>T"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750824C>T"	""	"pathogenic"	""
"0000698554"	"21"	"77"	"10"	"102509641"	"102509641"	"subst"	"0"	"03804"	"PAX2_000064"	"g.102509641G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749884G>A"	""	"likely pathogenic"	""
"0000698555"	"0"	"77"	"10"	"102509641"	"102509641"	"subst"	"0"	"03804"	"PAX2_000064"	"g.102509641G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749884G>A"	""	"likely pathogenic"	""
"0000698556"	"0"	"33"	"10"	"102539297"	"102539297"	"subst"	"0.000116302"	"03804"	"PAX2_000065"	"g.102539297G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100779540G>A"	""	"likely benign"	""
"0000698557"	"0"	"33"	"10"	"102541033"	"102541033"	"subst"	"4.06147E-5"	"03804"	"PAX2_000066"	"g.102541033G>C"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100781276G>C"	""	"likely benign"	""
"0000698558"	"0"	"33"	"10"	"102539322"	"102539322"	"subst"	"0.000133419"	"03804"	"PAX2_000067"	"g.102539322G>A"	""	"{PMID:Bower 2012:22213154}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100779565G>A"	""	"likely benign"	""
"0000698559"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698560"	"0"	"99"	"10"	"99948269"	"103741327"	"del"	"0"	"03804"	"PAX2_000070"	"g.(99928954_99948269)_(103741327_103757755)del"	""	"{PMID:Hoefele 2012:22361651}"	""	"hg18:g.(99918944_99938259)_(103731317_103747745)del"	"3.79 Mb deletion includes 44 genes"	"De novo"	""	""	"0"	""	""	"g.(98169197_98188512)_(101981570_101997998)del"	""	"pathogenic"	""
"0000698561"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Gucev 2009:19839859}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698562"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Yoshimura 2005:15808183}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698563"	"0"	"77"	"10"	"102509614"	"102509614"	"subst"	"0"	"03804"	"PAX2_000068"	"g.102509614G>A"	""	"{PMID:Iatropoulos 2012:22660956}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749857G>A"	""	"likely pathogenic"	""
"0000698564"	"0"	"77"	"10"	"102509614"	"102509614"	"subst"	"0"	"03804"	"PAX2_000068"	"g.102509614G>A"	""	"{PMID:Iatropoulos 2012:22660956}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749857G>A"	""	"likely pathogenic"	""
"0000698565"	"0"	"99"	"10"	"102448010"	"102688010"	"del"	"0"	"03804"	"PAX2_000071"	"g.(?_102448010)_(102688010_?)del"	""	"{PMID:Raca 2011:21285886}"	""	"hg18:g.(?_102438000)_(102678000_?)del"	"240kb deletion, includes PAX2 and portion FAM178A gene"	"De novo"	""	""	"0"	""	""	"g.(?_100688253)_(100928253_?)del"	""	"pathogenic"	""
"0000698566"	"11"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Madariaga 2013:23539225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698567"	"21"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Madariaga 2013:23539225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698568"	"21"	"99"	"10"	"102566363"	"102566363"	"subst"	"0"	"03804"	"PAX2_000072"	"g.102566363G>A"	""	"{PMID:Madariaga 2013:23539225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806606G>A"	""	"pathogenic"	""
"0000698569"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Madariaga 2013:23539225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698570"	"10"	"99"	"10"	"102566255"	"102566255"	"subst"	"0"	"03804"	"PAX2_000062"	"g.102566255C>T"	""	"{PMID:Porteous 2000:10587573}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806498C>T"	""	"pathogenic"	""
"0000698571"	"0"	"99"	"10"	"102566363"	"102566363"	"subst"	"0"	"03804"	"PAX2_000072"	"g.102566363G>A"	""	"{PMID:Madariaga 2013:23539225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100806606G>A"	""	"pathogenic"	""
"0000698572"	"0"	"77"	"10"	"102510588"	"102510588"	"subst"	"0"	"03804"	"PAX2_000050"	"g.102510588G>C"	""	"{PMID:Madariaga 2013:23539225}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750831G>C"	""	"likely pathogenic"	""
"0000698573"	"0"	"55"	"10"	"102587425"	"102587425"	"subst"	"0"	"03804"	"PAX2_000073"	"g.102587425C>G"	""	"{PMID:Madariaga 2013:23539225}"	""	""	"Variant is in final (12th) exon of genomic DNA.  This is exon 11 of NM_03990"	"Germline"	""	""	"0"	""	""	"g.100827671C>G"	""	"VUS"	""
"0000698574"	"10"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Ohtsubo 2012:22350371}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698575"	"10"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Ohtsubo 2012:22350371}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698576"	"10"	"99"	"10"	"102541073"	"102541074"	"dup"	"0"	"03804"	"PAX2_000074"	"g.102541073_102541074dup"	""	"{PMID:Megawa 2013:23686327}"	""	"p.(Ile190Argfs*85)"	"Patient\'s father died from renal failure and had colobomas.  Paternal uncle and grandfather also reported with findings consistent with RCS."	"Germline"	""	""	"0"	""	""	"g.100781316_100781317dup"	""	"pathogenic"	""
"0000698577"	"21"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Sato 2013:23966757}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698578"	"21"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Sato 2013:23966757}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698579"	"20"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Sato 2013:23966757}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698580"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Hwang 2013:24676634}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698581"	"0"	"77"	"10"	"102509670"	"102509670"	"subst"	"0"	"03804"	"PAX2_000075"	"g.102509670A>G"	""	"{PMID:Hwang 2013:24676634}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100749913A>G"	""	"likely pathogenic"	""
"0000698582"	"0"	"77"	"10"	"102510558"	"102510558"	"subst"	"4.06068E-6"	"03804"	"PAX2_000076"	"g.102510558C>T"	""	"{PMID:Hwang 2013:24676634}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100750801C>T"	""	"likely pathogenic"	""
"0000698583"	"0"	"99"	"10"	"102510581"	"102510581"	"subst"	"0"	"03804"	"PAX2_000059"	"g.102510581C>T"	""	"{PMID:Schimmenti 2003:14566649}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750824C>T"	""	"pathogenic"	""
"0000698584"	"0"	"99"	"10"	"102510646"	"102510646"	"del"	"0"	"03804"	"PAX2_000077"	"g.102510646del"	""	"{PMID:Hwang 2013:24429398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750889del"	""	"pathogenic"	""
"0000698585"	"0"	"99"	"10"	"102510646"	"102510646"	"del"	"0"	"03804"	"PAX2_000077"	"g.102510646del"	""	"{PMID:Hwang 2013:24429398}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750889del"	""	"pathogenic"	""
"0000698586"	"21"	"53"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"03804"	"PAX2_000036"	"g.102539335C>A"	""	"{PMID:Bower 2012:22213154}"	""	""	"Mutation in 2 affected individuals and one unaffected.  Mutation did not segregate with renal phenotype in another published family."	"Germline"	""	""	"0"	""	""	"g.100779578C>A"	""	"VUS"	""
"0000698587"	"0"	"53"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"03804"	"PAX2_000036"	"g.102539335C>A"	""	"{PMID:Bower 2012:22213154}"	""	""	"Variant is present in 2 family members with FSGS and two asymptomatic family members.  Did not segregate with renal phenotype in another family."	"Germline"	""	""	"0"	""	""	"g.100779578C>A"	""	"VUS"	""
"0000698588"	"21"	"53"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"03804"	"PAX2_000036"	"g.102539335C>A"	""	"{PMID:Bower 2012:22213154}"	""	""	"present in asymptomatic family members"	"Germline"	""	""	"0"	""	""	"g.100779578C>A"	""	"VUS"	""
"0000698589"	"0"	"55"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"03804"	"PAX2_000036"	"g.102539335C>A"	""	"{PMID:Bower 2012:22213154}"	""	""	"Present in 2 healthy family members.  Reported in another family where it did not segregate with renal phenotype."	"Germline"	""	""	"0"	""	""	"g.100779578C>A"	""	"VUS"	""
"0000698590"	"20"	"77"	"10"	"102510477"	"102510477"	"subst"	"0"	"03804"	"PAX2_000078"	"g.102510477C>T"	""	"{PMID:Barua 2014:24676634}"	""	""	"Maternal half sister and maternal grandmother reported to have renal disease, but not tested."	"Germline"	""	""	"0"	""	""	"g.100750720C>T"	""	"likely pathogenic"	""
"0000698591"	"10"	"77"	"10"	"102541071"	"102541071"	"subst"	"0"	"03804"	"PAX2_000079"	"g.102541071G>A"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100781314G>A"	""	"likely pathogenic"	""
"0000698592"	"10"	"77"	"10"	"102541071"	"102541071"	"subst"	"0"	"03804"	"PAX2_000079"	"g.102541071G>A"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100781314G>A"	""	"likely pathogenic"	""
"0000698593"	"10"	"77"	"10"	"102541071"	"102541071"	"subst"	"0"	"03804"	"PAX2_000079"	"g.102541071G>A"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100781314G>A"	""	"likely pathogenic"	""
"0000698594"	"21"	"77"	"10"	"102541071"	"102541071"	"subst"	"0"	"03804"	"PAX2_000079"	"g.102541071G>A"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100781314G>A"	""	"likely pathogenic"	""
"0000698595"	"21"	"77"	"10"	"102541071"	"102541071"	"subst"	"0"	"03804"	"PAX2_000079"	"g.102541071G>A"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100781314G>A"	""	"likely pathogenic"	""
"0000698596"	"10"	"77"	"10"	"102510636"	"102510636"	"subst"	"0"	"03804"	"PAX2_000080"	"g.102510636C>T"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750879C>T"	""	"likely pathogenic"	""
"0000698597"	"0"	"77"	"10"	"102509626"	"102509626"	"subst"	"0"	"03804"	"PAX2_000081"	"g.102509626G>A"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749869G>A"	""	"likely pathogenic"	""
"0000698598"	"20"	"75"	"10"	"102539292"	"102539292"	"subst"	"0"	"03804"	"PAX2_000082"	"g.102539292A>G"	""	"{PMID:Barua 2014:24676634}"	""	""	"Predicted benign by in silico models.  Segregation analyses was not reported to be done in publication."	"Germline"	""	""	"0"	""	""	"g.100779535A>G"	""	"likely pathogenic"	""
"0000698599"	"0"	"99"	"10"	"102510548"	"102510548"	"subst"	"0"	"03804"	"PAX2_000016"	"g.102510548C>T"	""	"{PMID:Cheong 2007:17541647}, {PMID:Samimi 2008:18609495}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750791C>T"	""	"pathogenic"	""
"0000698600"	"21"	"99"	"10"	"102510548"	"102510548"	"subst"	"0"	"03804"	"PAX2_000016"	"g.102510548C>T"	""	"{PMID:Cheong 2007:17541647}, {PMID:Samimi 2008:18609495}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750791C>T"	""	"pathogenic"	""
"0000698601"	"21"	"99"	"10"	"102510548"	"102510548"	"subst"	"0"	"03804"	"PAX2_000016"	"g.102510548C>T"	""	"{PMID:Cheong 2007:17541647}, {PMID:Samimi 2008:18609495}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100750791C>T"	""	"pathogenic"	""
"0000698602"	"0"	"77"	"10"	"102568892"	"102568892"	"subst"	"0"	"03804"	"PAX2_000083"	"g.102568892T>C"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100809135T>C"	""	"likely pathogenic"	""
"0000698603"	"0"	"55"	"10"	"102539259"	"102539259"	"subst"	"0"	"03804"	"PAX2_000084"	"g.102539259A>G"	""	"{PMID:Barua 2014:24676634}"	""	""	"Patient has two variants, both predicted benign by Polyphen2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100779502A>G"	""	"VUS"	""
"0000698604"	"0"	"55"	"10"	"102568990"	"102568990"	"subst"	"0"	"03804"	"PAX2_000085"	"g.102568990A>G"	""	"{PMID:Barua 2014:24676634}"	""	""	"Two variants found in patient, both predicted benign by Polyphen2"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100809233A>G"	""	"VUS"	""
"0000698605"	"0"	"77"	"10"	"102506022"	"102506022"	"subst"	"0"	"03804"	"PAX2_000086"	"g.102506022A>G"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100746265A>G"	""	"likely pathogenic"	""
"0000698606"	"0"	"77"	"10"	"102568897"	"102568897"	"subst"	"0"	"03804"	"PAX2_000087"	"g.102568897C>T"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100809140C>T"	""	"likely pathogenic"	""
"0000698607"	"0"	"77"	"10"	"102568892"	"102568892"	"subst"	"0"	"03804"	"PAX2_000083"	"g.102568892T>C"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100809135T>C"	""	"likely pathogenic"	""
"0000698608"	"0"	"77"	"10"	"102568889"	"102568889"	"subst"	"0"	"03804"	"PAX2_000088"	"g.102568889C>T"	""	"{PMID:Barua 2014:24676634}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100809132C>T"	""	"likely pathogenic"	""
"0000698609"	"0"	"55"	"10"	"102587359"	"102587359"	"subst"	"0"	"03804"	"PAX2_000089"	"g.102587359T>C"	""	"{PMID:Barua 2014:24676634}"	""	"1240T>C in NM_003987 (p.Tyr414His)"	"HG19 contains 3bp of DNA not present in NM_03990.3 or NM_03987.3. Thus, there is one codon difference between published report and LSDB.  This variant is a missense variant in NM_03987 but silent in NM_03990"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100827605T>C"	""	"VUS"	""
"0000698610"	"21"	"70"	"10"	"102539262"	"102539262"	"subst"	"0"	"03803"	"PAX2_000090"	"g.102539262C>T"	""	"{PMID:Negrisolo 2018:29973660}"	""	""	"variant inherited from mother with bilateral renal hypodysplasia and chronic kidney disease"	"Germline"	""	""	"0"	""	""	"g.100779505C>T"	""	"likely pathogenic"	""
"0000698611"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Iwafuchi 2016:27226968}"	""	""	"presumed de novo- no prior family history"	"De novo"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698612"	"11"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Iwafuchi 2016:27226968}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698613"	"11"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Iwafuchi 2016:27226968}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698614"	"0"	"99"	"10"	"102566253"	"102566253"	"subst"	"0"	"03804"	"PAX2_000091"	"g.102566253T>A"	""	"{PMID:Nicolaou 2016:26489027}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100806496T>A"	""	"pathogenic"	""
"0000698615"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Nicolaou 2016:26489027}"	""	"NM_003987.3:69_70insG"	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698616"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Nicolaou 2016:26489027}"	""	"NM_003987.3:69_70insG"	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698617"	"21"	"99"	"10"	"102509578"	"102509579"	"del"	"0"	"03804"	"PAX2_000092"	"g.102509578_102509579del"	""	"{PMID:Okumura 2015:26571382}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749821_100749822del"	""	"pathogenic"	""
"0000698618"	"21"	"99"	"10"	"102509578"	"102509579"	"del"	"0"	"03804"	"PAX2_000092"	"g.102509578_102509579del"	""	"{PMID:Okumura 2015:26571382}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749821_100749822del"	""	"pathogenic"	""
"0000698619"	"0"	"99"	"10"	"102509578"	"102509579"	"del"	"0"	"03804"	"PAX2_000092"	"g.102509578_102509579del"	""	"{PMID:Okumura 2015:26571382}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100749821_100749822del"	""	"pathogenic"	""
"0000698620"	"0"	"99"	"10"	"102509578"	"102509579"	"del"	"0"	"03804"	"PAX2_000092"	"g.102509578_102509579del"	""	"{PMID:Okumura 2015:26571382}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100749821_100749822del"	""	"pathogenic"	""
"0000698621"	"0"	"99"	"10"	"102509578"	"102509579"	"del"	"0"	"03804"	"PAX2_000092"	"g.102509578_102509579del"	""	"{PMID:Okumura 2015:26571382}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100749821_100749822del"	""	"pathogenic"	""
"0000698622"	"21"	"77"	"10"	"102509671"	"102509671"	"subst"	"0"	"03804"	"PAX2_000056"	"g.102509671G>C"	""	"{PMID:Okumura 2015:26571382}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100749914G>C"	""	"likely pathogenic"	""
"0000698623"	"21"	"77"	"10"	"102509671"	"102509671"	"subst"	"0"	"03804"	"PAX2_000056"	"g.102509671G>C"	""	"{PMID:Okumura 2015:26571382}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100749914G>C"	""	"likely pathogenic"	""
"0000698624"	"21"	"77"	"10"	"102584439"	"102584439"	"subst"	"0"	"03804"	"PAX2_000028"	"g.102584439C>A"	""	"{PMID:Okumura 2015:26571382}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000698625"	"0"	"77"	"10"	"102509646"	"102509646"	"subst"	"0"	"03804"	"PAX2_000093"	"g.102509646G>A"	""	"{PMID:Okumura 2015:26571382}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100749889G>A"	""	"likely pathogenic"	""
"0000698626"	"0"	"99"	"10"	"102509517"	"102509523"	"dup"	"0"	"03804"	"PAX2_000094"	"g.102509517_102509523dup"	""	"{PMID:Okumura et al.,2015:26571382}"	""	"57_58insGTGAACC"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100749760_100749766dup"	""	"pathogenic"	""
"0000698627"	"0"	"99"	"10"	"102510461"	"102510462"	"dup"	"0"	"03804"	"PAX2_000095"	"g.102510461_102510462dup"	""	"{PMID:Okumura 2015:26571382}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100750704_100750705dup"	""	"pathogenic"	""
"0000698628"	"0"	"99"	"10"	"102505988"	"102587660"	"del"	"0"	"03804"	"PAX2_000096"	"g.(?_102505988)_(102587660_?)del"	""	"{PMID:Heidet 2017:28566479}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698629"	"0"	"77"	"10"	"102509642"	"102509642"	"subst"	"0"	"03804"	"PAX2_000097"	"g.102509642C>A"	""	"{PMID:Heidet 2017:28566479}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100749885C>A"	""	"likely pathogenic"	""
"0000698630"	"21"	"99"	"10"	"102509535"	"102509535"	"del"	"0"	"03804"	"PAX2_000006"	"g.102509535del"	""	"{PMID:Heidet 2017:28566479}, {PMID:Schimmenti 1999}"	""	""	"de novo in mother"	"Germline"	""	""	"0"	""	""	"g.100749778del"	""	"pathogenic"	""
"0000698631"	"0"	"99"	"10"	"102539290"	"102539290"	"del"	"0"	"03804"	"PAX2_000098"	"g.102539290del"	""	"{PMID:Heidet 2017:28566479}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100779533del"	""	"pathogenic"	""
"0000698632"	"0"	"99"	"10"	"102509535"	"102509535"	"dup"	"0"	"03804"	"PAX2_000001"	"g.102509535dup"	""	"{PMID:Heidet 2017:28566479}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100749778dup"	""	"pathogenic"	""
"0000698633"	"0"	"99"	"10"	"102510569"	"102510569"	"subst"	"0"	"03804"	"PAX2_000058"	"g.102510569G>A"	""	"{PMID:Sellick 2004:15561999}, {PMID:Bower 2012:22213154}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750812G>A"	""	"pathogenic"	""
"0000698634"	"0"	"77"	"10"	"102509671"	"102509671"	"subst"	"0"	"03804"	"PAX2_000099"	"g.102509671G>A"	""	"{PMID:Heidet 2017:28566479}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100749914G>A"	""	"likely pathogenic"	""
"0000698635"	"0"	"99"	"10"	"102505988"	"102510649"	"del"	"0"	"03804"	"PAX2_000100"	"g.(?_102505988)_(102510649_102539254)del"	""	"{PMID:Heidet 2017:28566479}"	""	"(?_-30)_(410+?)del"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698636"	"0"	"99"	"10"	"102539286"	"102539340"	"del"	"0"	"03804"	"PAX2_000101"	"g.(?_102539286)_(102539340_?)del"	""	"{PMID:Heidet 2017:28566479}"	""	"(?_442)_(496_?)del"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000698637"	"0"	"95"	"10"	"102510459"	"102510464"	"dup"	"0"	"03804"	"PAX2_000013"	"g.102510459_102510464dup"	""	"{PMID:DeVriendt 1998:9760197}, {PMID:Liu 2018:29054766}"	""	"220_225dup"	""	"De novo"	""	""	"0"	""	""	"g.100750702_100750707dup"	""	"pathogenic"	""
"0000698638"	"0"	"99"	"10"	"102250275"	"107787788"	"del"	"0"	"03804"	"PAX2_000102"	"g.(?_102250275)_(107787788_?)del"	""	"{PMID:Peltekova 2014:25257335}"	""	"hg19:g.(?_102250275)_(107787788_?)del"	"additional 90 genes deleted along with PAX2"	"De novo"	""	""	"0"	""	""	"g.(?_100490518)_(106028031_?)del"	""	"pathogenic"	""
"0000698639"	"0"	"99"	"10"	"102020722"	"102825352"	""	"0"	"03804"	"PAX2_000069"	"g.(?_102020722)_(102825352 _?)del"	""	"{PMID:Pfundt 2017:28574513}"	""	"hg19:g.(?_102020722)_(102825352 _?)del"	"19 total genes in deleted segment"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.(?_100260965)_(101065595_?)del"	""	"pathogenic"	""
"0000698640"	"0"	"97"	"10"	"102510449"	"102510449"	"subst"	"0"	"03804"	"PAX2_000103"	"g.102510449A>G"	""	"{PMID:Galvez-Ruiz 2018:29339962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750692A>G"	""	"pathogenic"	""
"0000698641"	"20"	"77"	"10"	"102510627"	"102510627"	"subst"	"0"	"03804"	"PAX2_000104"	"g.102510627C>G"	""	"{PMID:Galvez-Ruiz 2018:29339962}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100750870C>G"	""	"likely pathogenic"	""
"0000698642"	"0"	"75"	"10"	"102568993"	"102568993"	"subst"	"0"	"03804"	"PAX2_000105"	"g.102568993G>A"	""	"{PMID:Galvez-Ruiz 2018:29339962}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.100809236G>A"	""	"likely pathogenic"	""
"0000713255"	"0"	"90"	"10"	"102584417"	"102584417"	"subst"	"0.000398002"	"00000"	"PAX2_000161"	"g.102584417C>T"	""	"{PMID:Carss 2017:28041643}"	""	"10:102584417C>T ENST00000428433.1:c.1001C>T (Ala334Val)"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000713994"	"1"	"50"	"10"	"102541051"	"102541051"	"subst"	"0"	"00000"	"PAX2_000160"	"g.102541051T>G"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.100781294T>G"	""	"VUS"	""
"0000722637"	"0"	"90"	"10"	"102509535"	"102509535"	"dup"	"0"	"02325"	"PAX2_000001"	"g.102509535dup"	""	""	""	"PAX2(NM_003987.3):c.76dup (p.(Val26GlyfsTer28)), PAX2(NM_003987.5):c.76dupG (p.V26Gfs*28), PAX2(NM_003988.5):c.76dupG (p.V26Gfs*28)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000722638"	"0"	"30"	"10"	"102539322"	"102539322"	"subst"	"0.000133419"	"01943"	"PAX2_000067"	"g.102539322G>A"	""	""	""	"PAX2(NM_003988.4):c.478G>A (p.A160T), PAX2(NM_003988.5):c.478G>A (p.A160T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000765441"	"1"	"90"	"10"	"102546770"	"102546770"	"subst"	"3.25066E-5"	"00000"	"PAX2_000162"	"g.102546770T>C"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.100787013T>C"	""	"pathogenic"	""
"0000765463"	"1"	"70"	"10"	"102586833"	"102586833"	"subst"	"0"	"00000"	"PAX2_000163"	"g.102586833C>T"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	"1172C>T (S391L)"	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000784624"	"0"	"50"	"10"	"102546770"	"102546770"	"subst"	"3.25066E-5"	"00000"	"PAX2_000162"	"g.102546770T>C"	"1/314 case chromosomes"	"{PMID:Xu 2015:25999675}"	""	""	"2/1266 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.100787013T>C"	""	"VUS"	""
"0000784664"	"0"	"50"	"10"	"102568948"	"102568948"	"subst"	"8.12288E-6"	"00000"	"PAX2_000164"	"g.102568948C>A"	"1/314 case chromosomes"	"{PMID:Xu 2015:25999675}"	""	""	"0/1266 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.100809191C>A"	""	"VUS"	""
"0000793797"	"0"	"70"	"10"	"102541051"	"102541051"	"subst"	"0"	"00000"	"PAX2_000160"	"g.102541051T>G"	""	"{PMID:Zhou-2011:21677794}"	""	"c.545T>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000794235"	"0"	"70"	"10"	"102509554"	"102509554"	"subst"	"0"	"03508"	"PAX2_000165"	"g.102509554C>G"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	""	""	""	""	""	"VUS"	"ACMG"
"0000797016"	"0"	"50"	"10"	"102541099"	"102541099"	"subst"	"4.06141E-6"	"00000"	"PAX2_000166"	"g.102541099G>A"	""	"{PMID:Wang-2014:24154662}"	""	"c.593G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000804262"	"0"	"30"	"10"	"102509556"	"102509556"	"subst"	"0"	"01943"	"PAX2_000167"	"g.102509556C>T"	""	""	""	"PAX2(NM_003988.4):c.97C>T (p.L33=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804263"	"0"	"90"	"10"	"102510621"	"102510622"	"del"	"0"	"02326"	"PAX2_000168"	"g.102510621_102510622del"	""	""	""	"PAX2(NM_003988.5):c.383_384delCA (p.T128Sfs*52)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000804264"	"0"	"30"	"10"	"102539336"	"102539336"	"subst"	"0"	"01943"	"PAX2_000169"	"g.102539336C>T"	""	""	""	"PAX2(NM_003988.4):c.492C>T (p.T164=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804265"	"0"	"30"	"10"	"102568941"	"102568941"	"subst"	"0.000263968"	"01943"	"PAX2_000170"	"g.102568941C>G"	""	""	""	"PAX2(NM_003988.4):c.867C>G (p.N289K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804266"	"0"	"30"	"10"	"102587376"	"102587376"	"subst"	"3.66023E-5"	"01943"	"PAX2_000171"	"g.102587376G>A"	""	""	""	"PAX2(NM_003989.5):c.1166G>A (p.(Ser389Asn)), PAX2(NM_003990.4):c.1235G>A (p.S412N), PAX2(NM_003990.5):c.1235G>A (p.S412N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000839671"	"21"	"70"	"10"	"102506025"	"102506025"	"subst"	"1.64241E-5"	"04221"	"PAX2_000172"	"g.102506025T>C"	""	"{PMID:Reyna-Fabian 2024:38909058}"	"BciVI+, MslI-"	""	"ACMG PM2, PP2; mother is heterozygous, father (variant not found)"	"Germline"	"?"	"rs754968736"	"0"	""	""	"g.100746268T>C"	""	"VUS"	"ACMG"
"0000847239"	"0"	"70"	"10"	"102509671"	"102509671"	"subst"	"0"	"03803"	"PAX2_000173"	"g.102509671G>T"	""	"{DOI:Negrisolo 2023:10.3390/ijms24044165}"	""	""	""	"De novo"	""	""	"0"	""	""	"g.100749914G>T"	""	"likely pathogenic (dominant)"	""
"0000847240"	"0"	"70"	"10"	"102509612"	"102509614"	"delins"	"0"	"03803"	"PAX2_000174"	"g.102509612_102509614delinsTT"	""	"{DOI:Negrisolo 2023:10.3390/ijms24044165}"	""	"153_155delCTGinsTT"	""	"De novo"	""	""	"0"	""	""	"g.100749855_100749857delinsTT"	""	"likely pathogenic (dominant)"	""
"0000852354"	"0"	"30"	"10"	"102506063"	"102506063"	"subst"	"8.21403E-6"	"01943"	"PAX2_000175"	"g.102506063G>A"	""	""	""	"PAX2(NM_003988.4):c.43+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852355"	"0"	"30"	"10"	"102509555"	"102509555"	"subst"	"0.000123059"	"01943"	"PAX2_000176"	"g.102509555C>G"	""	""	""	"PAX2(NM_003988.4):c.96C>G (p.P32=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852356"	"0"	"50"	"10"	"102509590"	"102509590"	"subst"	"0"	"02327"	"PAX2_000177"	"g.102509590T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852357"	"0"	"50"	"10"	"102510464"	"102510464"	"subst"	"0"	"01943"	"PAX2_000178"	"g.102510464G>C"	""	""	""	"PAX2(NM_003988.4):c.226G>C (p.G76R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852358"	"0"	"30"	"10"	"102539321"	"102539321"	"subst"	"0"	"02330"	"PAX2_000148"	"g.102539321C>T"	""	""	""	"PAX2(NM_003988.4):c.477C>T (p.T159=), PAX2(NM_003988.5):c.477C>T (p.T159=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852359"	"0"	"50"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"01943"	"PAX2_000036"	"g.102539335C>A"	""	""	""	"PAX2(NM_000278.3):c.491C>A (p.(Thr164Asn)), PAX2(NM_003988.4):c.491C>A (p.T164N), PAX2(NM_003988.5):c.491C>A (p.T164N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000852360"	"0"	"30"	"10"	"102541091"	"102541091"	"subst"	"1.21839E-5"	"01943"	"PAX2_000180"	"g.102541091C>A"	""	""	""	"PAX2(NM_003988.4):c.585C>A (p.R195=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852361"	"0"	"30"	"10"	"102587371"	"102587371"	"subst"	"4.06765E-6"	"01943"	"PAX2_000182"	"g.102587371C>T"	""	""	""	"PAX2(NM_003987.4):c.1249C>T (p.H417Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000852362"	"0"	"30"	"10"	"102587428"	"102587428"	"subst"	"0.000501529"	"01943"	"PAX2_000073"	"g.102587428C>G"	""	""	""	"PAX2(NM_003989.5):c.1218C>G (p.I406M), PAX2(NM_003990.4):c.1287C>G (p.I429M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861788"	"0"	"30"	"10"	"102539297"	"102539297"	"subst"	"4.65207E-6"	"01943"	"PAX2_000179"	"g.102539297G>C"	""	""	""	"PAX2(NM_003988.4):c.453G>C (p.P151=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861789"	"0"	"90"	"10"	"102566186"	"102566186"	"subst"	"0"	"02327"	"PAX2_000181"	"g.102566186G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000861790"	"0"	"10"	"10"	"102584647"	"102584647"	"subst"	"0.0029374"	"02330"	"PAX2_000125"	"g.102584647C>A"	""	""	""	"PAX2(NM_003988.5):c.1022-12C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000873624"	"0"	"70"	"10"	"102539262"	"102539262"	"subst"	"0"	"00000"	"PAX2_000090"	"g.102539262C>T"	"229"	"{PMID:Sun 2018:30076350}"	""	"PAX2(NM_003990.3):c.418C>T( p.R140W )"	""	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.100779505C>T"	""	"likely pathogenic"	""
"0000888961"	"0"	"30"	"10"	"102510664"	"102510664"	"subst"	"9.4038E-5"	"02326"	"PAX2_000183"	"g.102510664G>A"	""	""	""	"PAX2(NM_003988.5):c.410+16G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000913195"	"0"	"90"	"10"	"102510450"	"102510450"	"subst"	"0"	"02327"	"PAX2_000184"	"g.102510450G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000913196"	"0"	"50"	"10"	"102541113"	"102541113"	"subst"	"0"	"02326"	"PAX2_000185"	"g.102541113C>T"	""	""	""	"PAX2(NM_003988.5):c.607C>T (p.R203C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000913197"	"0"	"30"	"10"	"102587428"	"102587428"	"subst"	"0.000501529"	"02330"	"PAX2_000073"	"g.102587428C>G"	""	""	""	"PAX2(NM_003989.5):c.1218C>G (p.I406M), PAX2(NM_003990.4):c.1287C>G (p.I429M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000919622"	"0"	"90"	"10"	"102509528"	"102509528"	"del"	"0"	"03803"	"PAX2_000004"	"g.102509528del"	""	"{DOI:Negrisolo 2023:10.3390/ijms24044165}"	""	"69delC"	""	"De novo"	""	""	"0"	""	""	"g.100749771del"	""	"pathogenic (dominant)"	""
"0000925098"	"0"	"30"	"10"	"102495496"	"102495496"	"subst"	"0"	"02326"	"PAX2_000186"	"g.102495496A>T"	""	""	""	"PAX2(NM_001304569.2):c.25+6A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000925099"	"0"	"30"	"10"	"102539322"	"102539322"	"subst"	"0.000133419"	"02326"	"PAX2_000067"	"g.102539322G>A"	""	""	""	"PAX2(NM_003988.4):c.478G>A (p.A160T), PAX2(NM_003988.5):c.478G>A (p.A160T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929635"	"0"	"30"	"10"	"102584448"	"102584448"	"subst"	"0.00020712"	"02326"	"PAX2_000123"	"g.102584448C>T"	""	""	""	"PAX2(NM_003988.5):c.963C>T (p.H321=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949331"	"0"	"30"	"10"	"102568893"	"102568893"	"subst"	"0.000219325"	"02330"	"PAX2_000132"	"g.102568893G>C"	""	""	""	"PAX2(NM_003988.5):c.819G>C (p.L273=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949332"	"0"	"30"	"10"	"102587376"	"102587376"	"subst"	"3.66023E-5"	"02326"	"PAX2_000171"	"g.102587376G>A"	""	""	""	"PAX2(NM_003989.5):c.1166G>A (p.(Ser389Asn)), PAX2(NM_003990.4):c.1235G>A (p.S412N), PAX2(NM_003990.5):c.1235G>A (p.S412N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000965558"	"0"	"90"	"10"	"102506062"	"102506062"	"subst"	"0"	"02327"	"PAX2_000187"	"g.102506062T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000965559"	"0"	"50"	"10"	"102509560"	"102509560"	"subst"	"0"	"02326"	"PAX2_000188"	"g.102509560C>G"	""	""	""	"PAX2(NM_003988.5):c.101C>G (p.P34R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000965560"	"0"	"50"	"10"	"102509565"	"102509565"	"subst"	"8.20708E-6"	"02326"	"PAX2_000189"	"g.102509565G>A"	""	""	""	"PAX2(NM_003988.5):c.106G>A (p.V36M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000965561"	"0"	"30"	"10"	"102568885"	"102568885"	"subst"	"4.06161E-6"	"02327"	"PAX2_000190"	"g.102568885C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978856"	"0"	"30"	"10"	"102510443"	"102510443"	"del"	"0"	"01804"	"PAX2_000191"	"g.102510443del"	""	""	""	"PAX2(NM_000278.5):c.213-8del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978857"	"0"	"30"	"10"	"102539297"	"102539297"	"subst"	"0.000116302"	"02326"	"PAX2_000065"	"g.102539297G>A"	""	""	""	"PAX2(NM_003988.4):c.453G>A (p.P151=), PAX2(NM_003988.5):c.453G>A (p.P151=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978858"	"0"	"30"	"10"	"102541035"	"102541035"	"subst"	"3.65565E-5"	"01804"	"PAX2_000131"	"g.102541035G>A"	""	""	""	"PAX2(NM_000278.5):c.529G>A (p.(Ala177Thr)), PAX2(NM_003987.5):c.529G>A (p.A177T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998045"	"0"	"50"	"10"	"102506019"	"102506019"	"subst"	"0"	"01804"	"PAX2_000192"	"g.102506019T>A"	""	""	""	"PAX2(NM_003988.3):c.2T>A (p.(Met1?))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998046"	"0"	"50"	"10"	"102539335"	"102539335"	"subst"	"0.000187163"	"01804"	"PAX2_000036"	"g.102539335C>A"	""	""	""	"PAX2(NM_000278.3):c.491C>A (p.(Thr164Asn)), PAX2(NM_003988.4):c.491C>A (p.T164N), PAX2(NM_003988.5):c.491C>A (p.T164N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998047"	"0"	"30"	"10"	"102541012"	"102541012"	"subst"	"2.84273E-5"	"01804"	"PAX2_000193"	"g.102541012C>T"	""	""	""	"PAX2(NM_000278.5):c.506C>T (p.(Thr169Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000998048"	"0"	"50"	"10"	"102566208"	"102566208"	"subst"	"0"	"02325"	"PAX2_000141"	"g.102566208C>G"	""	""	""	"PAX2(NM_003987.5):c.707C>G (p.P236R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000998049"	"0"	"30"	"10"	"102566298"	"102566298"	"subst"	"0.000479242"	"02326"	"PAX2_000194"	"g.102566298G>A"	""	""	""	"PAX2(NM_003988.5):c.728G>A (p.R243Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025700"	"0"	"90"	"10"	"102509535"	"102509535"	"dup"	"0"	"02326"	"PAX2_000001"	"g.102509535dup"	""	""	""	"PAX2(NM_003987.3):c.76dup (p.(Val26GlyfsTer28)), PAX2(NM_003987.5):c.76dupG (p.V26Gfs*28), PAX2(NM_003988.5):c.76dupG (p.V26Gfs*28)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001025701"	"0"	"50"	"10"	"102510587"	"102510587"	"subst"	"0"	"02327"	"PAX2_000195"	"g.102510587C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037676"	"0"	"30"	"10"	"102546760"	"102546760"	"subst"	"0"	"01804"	"PAX2_000196"	"g.102546760C>T"	""	""	""	"PAX2(NM_003987.5):c.677C>T (p.(Thr226Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037677"	"0"	"30"	"10"	"102568900"	"102568900"	"subst"	"4.06134E-5"	"01804"	"PAX2_000197"	"g.102568900G>A"	""	""	""	"PAX2(NM_000278.5):c.826G>A (p.(Gly276Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037678"	"0"	"30"	"10"	"102587376"	"102587376"	"subst"	"3.66023E-5"	"01804"	"PAX2_000171"	"g.102587376G>A"	""	""	""	"PAX2(NM_003989.5):c.1166G>A (p.(Ser389Asn)), PAX2(NM_003990.4):c.1235G>A (p.S412N), PAX2(NM_003990.5):c.1235G>A (p.S412N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001053678"	"0"	"30"	"10"	"102541069"	"102541069"	"subst"	"1.62452E-5"	"01804"	"PAX2_000198"	"g.102541069A>G"	""	""	""	"PAX2(NM_000278.5):c.563A>G (p.(Asn188Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes PAX2
## Count = 379
"{{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}}"
"0000012875"	"00025241"	"00"	"616"	"838"	"616"	"838"	"c.616+838G>C"	"r.(=)"	"p.(=)"	""
"0000012876"	"00025241"	"00"	"686"	"-7693"	"686"	"-7693"	"c.686-7693T>C"	"r.(=)"	"p.(=)"	""
"0000079494"	"00025241"	"00"	"698"	"0"	"713"	"0"	"c.698_713del"	"r.(?)"	"p.(Gly233Glufs*59)"	""
"0000223243"	"00025241"	"90"	"187"	"0"	"187"	"0"	"c.187G>A"	"r.(?)"	"p.(Gly63Ser)"	""
"0000223244"	"00025241"	"90"	"961"	"0"	"964"	"0"	"c.961_964del"	"r.(?)"	"p.(Gly321Hisfs*7)"	""
"0000248196"	"00025241"	"10"	"978"	"0"	"978"	"0"	"c.978A>C"	"r.(?)"	"p.(Pro326=)"	""
"0000250899"	"00025241"	"10"	"978"	"0"	"978"	"0"	"c.978A>C"	"r.(?)"	"p.(Pro326=)"	""
"0000251467"	"00025241"	"10"	"410"	"68"	"410"	"68"	"c.410+68A>C"	"r.(=)"	"p.(=)"	""
"0000252623"	"00025241"	"90"	"411"	"-2"	"411"	"-2"	"c.411-2A>G"	"r.spl?"	"p.?"	""
"0000293427"	"00025241"	"10"	"1091"	"-19"	"1091"	"-19"	"c.1091-19C>T"	"r.(=)"	"p.(=)"	""
"0000293428"	"00025241"	"10"	"255"	"0"	"255"	"0"	"c.255C>T"	"r.(?)"	"p.(Gly85=)"	""
"0000293429"	"00025241"	"10"	"360"	"0"	"360"	"0"	"c.360C>T"	"r.(?)"	"p.(Ala120=)"	""
"0000293430"	"00025241"	"30"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	""
"0000293431"	"00025241"	"10"	"1032"	"0"	"1032"	"0"	"c.1032C>T"	"r.(?)"	"p.(His344=)"	""
"0000296772"	"00025241"	"10"	"43"	"10"	"43"	"10"	"c.43+10G>C"	"r.(=)"	"p.(=)"	""
"0000300605"	"00025241"	"10"	"1090"	"141"	"1090"	"141"	"c.1090+141C>A"	"r.(=)"	"p.(=)"	""
"0000300606"	"00025241"	"70"	"263"	"0"	"263"	"0"	"c.263C>T"	"r.(?)"	"p.(Pro88Leu)"	""
"0000300607"	"00025241"	"90"	"343"	"0"	"343"	"0"	"c.343C>T"	"r.(?)"	"p.(Arg115Ter)"	""
"0000300608"	"00025241"	"30"	"360"	"0"	"360"	"0"	"c.360C>T"	"r.(?)"	"p.(Ala120=)"	""
"0000300609"	"00025241"	"70"	"418"	"0"	"418"	"0"	"c.418C>T"	"r.(?)"	"p.(Arg140Trp)"	""
"0000300610"	"00025241"	"10"	"43"	"10"	"43"	"10"	"c.43+10G>C"	"r.(=)"	"p.(=)"	""
"0000300611"	"00025241"	"90"	"433"	"0"	"433"	"0"	"c.433C>T"	"r.(?)"	"p.(Gln145Ter)"	""
"0000300612"	"00025241"	"90"	"752"	"0"	"752"	"0"	"c.752T>A"	"r.(?)"	"p.(Leu251Ter)"	""
"0000300613"	"00025241"	"10"	"861"	"9"	"861"	"9"	"c.861+9G>A"	"r.(=)"	"p.(=)"	""
"0000300614"	"00025241"	"30"	"862"	"-59"	"862"	"-59"	"c.862-59C>T"	"r.(=)"	"p.(=)"	""
"0000300615"	"00025241"	"10"	"867"	"0"	"867"	"0"	"c.867C>T"	"r.(?)"	"p.(Asn289=)"	""
"0000300616"	"00025241"	"50"	"1050"	"0"	"1050"	"0"	"c.1050G>A"	"r.(?)"	"p.(Gln350=)"	""
"0000305046"	"00025241"	"30"	"360"	"0"	"360"	"0"	"c.360C>T"	"r.(?)"	"p.(Ala120=)"	""
"0000305047"	"00025241"	"50"	"799"	"0"	"799"	"0"	"c.799G>A"	"r.(?)"	"p.(Val267Ile)"	""
"0000321733"	"00025241"	"50"	"652"	"0"	"652"	"0"	"c.652G>T"	"r.(?)"	"p.(Gly218Cys)"	""
"0000336895"	"00025241"	"10"	"43"	"10"	"43"	"10"	"c.43+10G>C"	"r.(=)"	"p.(=)"	""
"0000339225"	"00025241"	"30"	"-160"	"0"	"-160"	"0"	"c.-160G>T"	"r.(?)"	"p.(=)"	""
"0000340700"	"00025241"	"10"	"867"	"0"	"867"	"0"	"c.867C>T"	"r.(?)"	"p.(Asn289=)"	""
"0000340846"	"00025241"	"30"	"888"	"0"	"888"	"0"	"c.888G>C"	"r.(?)"	"p.(Leu296=)"	""
"0000340908"	"00025241"	"10"	"978"	"0"	"978"	"0"	"c.978A>C"	"r.(?)"	"p.(Pro326=)"	""
"0000341222"	"00025241"	"50"	"529"	"0"	"529"	"0"	"c.529G>A"	"r.(?)"	"p.(Ala177Thr)"	""
"0000341755"	"00025241"	"90"	"343"	"0"	"343"	"0"	"c.343C>T"	"r.(?)"	"p.(Arg115Ter)"	""
"0000345919"	"00025241"	"50"	"73"	"0"	"73"	"0"	"c.73G>C"	"r.(?)"	"p.(Gly25Arg)"	""
"0000350439"	"00025241"	"90"	"76"	"0"	"76"	"0"	"c.76del"	"r.(?)"	"p.(Val26CysfsTer3)"	""
"0000350804"	"00025241"	"10"	"-203"	"0"	"-203"	"0"	"c.-203A>G"	"r.(?)"	"p.(=)"	""
"0000538872"	"00025241"	"10"	"-10538"	"0"	"-10538"	"0"	"c.-10538G>T"	"r.(?)"	"p.(=)"	""
"0000538873"	"00025241"	"50"	"70"	"0"	"70"	"0"	"c.70G>C"	"r.(?)"	"p.(Gly24Arg)"	""
"0000538874"	"00025241"	"90"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyfsTer28)"	""
"0000538875"	"00025241"	"50"	"103"	"0"	"103"	"0"	"c.103G>C"	"r.(?)"	"p.(Asp35His)"	""
"0000538876"	"00025241"	"90"	"337"	"0"	"337"	"0"	"c.337del"	"r.(?)"	"p.(Glu113ArgfsTer46)"	""
"0000538877"	"00025241"	"50"	"410"	"0"	"410"	"0"	"c.410G>A"	"r.(?)"	"p.(Arg137Lys)"	""
"0000538878"	"00025241"	"50"	"562"	"0"	"562"	"0"	"c.562A>G"	"r.(?)"	"p.(Asn188Asp)"	""
"0000538879"	"00025241"	"50"	"707"	"0"	"707"	"0"	"c.707C>G"	"r.(?)"	"p.(Pro236Arg)"	""
"0000538880"	"00025241"	"50"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(?)"	"p.(Arg331Cys)"	""
"0000612227"	"00025241"	"90"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252Ter)"	""
"0000622309"	"00025241"	"30"	"453"	"0"	"453"	"0"	"c.453G>A"	"r.(?)"	"p.(Pro151=)"	""
"0000622310"	"00025241"	"30"	"616"	"6"	"616"	"6"	"c.616+6G>C"	"r.(=)"	"p.(=)"	""
"0000656402"	"00025241"	"30"	"1090"	"162"	"1090"	"162"	"c.1090+162T>A"	"r.(=)"	"p.(=)"	""
"0000678750"	"00025241"	"90"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Gly76Ser)"	""
"0000678751"	"00025241"	"30"	"477"	"0"	"477"	"0"	"c.477C>T"	"r.(?)"	"p.(Thr159=)"	""
"0000690631"	"00025241"	"30"	"529"	"0"	"529"	"0"	"c.529G>A"	"r.(?)"	"p.(Ala177Thr)"	""
"0000698380"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698381"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698382"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698383"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698384"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698385"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698386"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698387"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698388"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698389"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698390"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698391"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698392"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698393"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698394"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698395"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698396"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698397"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698398"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698399"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698400"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698401"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698402"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698403"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698404"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698405"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698406"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698407"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698408"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698409"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698410"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698411"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698412"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698413"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698414"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698415"	"00025241"	"99"	"59"	"0"	"59"	"0"	"c.59del"	"r.(?)"	"p.(Val20Glyfs*9)"	"2"
"0000698416"	"00025241"	"99"	"68"	"0"	"68"	"0"	"c.68del"	"r.(?)"	"p.(Leu23Profs*6)"	"2"
"0000698417"	"00025241"	"99"	"69"	"0"	"69"	"0"	"c.69del"	"r.(?)"	"p.(Val26Cysfs*3)"	"2"
"0000698418"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26Glyfs*28)"	"2"
"0000698419"	"00025241"	"77"	"71"	"0"	"71"	"0"	"c.71G>A"	"r.(?)"	"p.(Gly24Glu)"	"2"
"0000698420"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76del"	"r.(?)"	"p.(Val26Cysfs*3)"	"2"
"0000698421"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76del"	"r.(?)"	"p.(Val26Cysfs*3)"	"2"
"0000698422"	"00025241"	"99"	"75"	"0"	"76"	"0"	"c.75_76dup"	"r.(?)"	"p.(Val26Glyfs*4)"	"2"
"0000698423"	"00025241"	"77"	"92"	"0"	"97"	"0"	"c.92_97del"	"r.(?)"	"p.(Arg31_Pro32del)"	"2"
"0000698424"	"00025241"	"77"	"115"	"0"	"120"	"0"	"c.115_120del"	"r.(?)"	"p.(Gln39_Arg40del)"	"2"
"0000698425"	"00025241"	"99"	"129"	"0"	"150"	"0"	"c.129_150del"	"r.(?)"	"p.(Glu43Aspfs*33)"	"2"
"0000698426"	"00025241"	"99"	"139"	"0"	"148"	"0"	"c.139_148del"	"r.(?)"	"p.(Gln47Glyfs*33)"	"2"
"0000698427"	"00025241"	"99"	"139"	"0"	"148"	"0"	"c.139_148del"	"r.(?)"	"p.(Gln47Glyfs*33)"	"2"
"0000698428"	"00025241"	"99"	"139"	"0"	"148"	"0"	"c.139_148del"	"r.(?)"	"p.(Gln47Glyfs*33)"	"2"
"0000698429"	"00025241"	"99"	"139"	"0"	"148"	"0"	"c.139_148del"	"r.(?)"	"p.(Gln47Glyfs*33)"	"2"
"0000698430"	"00025241"	"99"	"139"	"0"	"148"	"0"	"c.139_148del"	"r.(?)"	"p.(Gln47Glyfs*33)"	"2"
"0000698431"	"00025241"	"99"	"139"	"0"	"148"	"0"	"c.139_148del"	"r.(?)"	"p.(Gln47Glyfs*33)"	"2"
"0000698432"	"00025241"	"77"	"212"	"0"	"212"	"0"	"c.212G>C"	"r.(?)"	"p.(Arg71Thr)"	"2"
"0000698433"	"00025241"	"77"	"212"	"0"	"212"	"0"	"c.212G>C"	"r.(?)"	"p.(Arg71Thr)"	"2"
"0000698434"	"00025241"	"77"	"221"	"0"	"226"	"0"	"c.221_226dup"	"r.(?)"	"p.(Glu74_Thr75dup)"	"3"
"0000698435"	"00025241"	"77"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Gly76Ser)"	"3"
"0000698436"	"00025241"	"77"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Gly76Ser)"	"3"
"0000698437"	"00025241"	"77"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Gly76Ser)"	"3"
"0000698438"	"00025241"	"77"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Gly76Ser)"	"3"
"0000698439"	"00025241"	"77"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Gly76Ser)"	"3"
"0000698440"	"00025241"	"77"	"226"	"0"	"226"	"0"	"c.226G>A"	"r.(?)"	"p.(Gly76Ser)"	"3"
"0000698441"	"00025241"	"99"	"289"	"0"	"289"	"0"	"c.289del"	"r.(?)"	"p.(Asp97Thrfs*62)"	"3"
"0000698442"	"00025241"	"99"	"289"	"0"	"289"	"0"	"c.289del"	"r.(?)"	"p.(Asp97Thrfs*62)"	"3"
"0000698443"	"00025241"	"99"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104*)"	"3"
"0000698444"	"00025241"	"99"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104*)"	"3"
"0000698445"	"00025241"	"99"	"343"	"0"	"343"	"0"	"c.343C>T"	"r.(?)"	"p.(Arg115*)"	"3"
"0000698446"	"00025241"	"99"	"343"	"0"	"343"	"0"	"c.343C>T"	"r.(?)"	"p.(Arg115*)"	"3"
"0000698447"	"00025241"	"99"	"343"	"0"	"343"	"0"	"c.343C>T"	"r.(?)"	"p.(Arg115*)"	"3"
"0000698448"	"00025241"	"77"	"389"	"0"	"389"	"0"	"c.389C>A"	"r.(?)"	"p.(Pro130His)"	"3"
"0000698449"	"00025241"	"99"	"392"	"0"	"392"	"0"	"c.392del"	"r.(?)"	"p.(Ser131Thrfs*28)"	"3"
"0000698450"	"00025241"	"99"	"411"	"-2"	"411"	"-2"	"c.411-2A>G"	"r.spl"	"p.?"	"3i"
"0000698451"	"00025241"	"77"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698452"	"00025241"	"77"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698453"	"00025241"	"77"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698454"	"00025241"	"77"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698455"	"00025241"	"77"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698456"	"00025241"	"77"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698457"	"00025241"	"77"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698458"	"00025241"	"77"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698459"	"00025241"	"77"	"410"	"5"	"410"	"5"	"c.410+5G>A"	"r.spl"	"p.?"	"3i"
"0000698460"	"00025241"	"77"	"497"	"-1"	"497"	"-1"	"c.497-1G>T"	"r.spl"	"p.?"	"4i"
"0000698461"	"00025241"	"99"	"561"	"0"	"561"	"0"	"c.561del"	"r.(?)"	"p.(Asn188Metfs*40)"	"5"
"0000698462"	"00025241"	"99"	"561"	"0"	"561"	"0"	"c.561del"	"r.(?)"	"p.(Asn188Metfs*40)"	"5"
"0000698463"	"00025241"	"99"	"561"	"0"	"561"	"0"	"c.561del"	"r.(?)"	"p.(Asn188Metfs*40)"	"5"
"0000698464"	"00025241"	"99"	"561"	"0"	"561"	"0"	"c.561del"	"r.(?)"	"p.(Asn188Metfs*40)"	"5"
"0000698465"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698466"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698467"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698468"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698469"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698470"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698471"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698472"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698473"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698474"	"00025241"	"99"	"775"	"0"	"775"	"0"	"c.775C>T"	"r.(?)"	"p.(Gln259*)"	"7"
"0000698475"	"00025241"	"99"	"1023"	"0"	"1023"	"0"	"c.1023C>A"	"r.(?)"	"p.(Tyr341*)"	"9"
"0000698476"	"00025241"	"99"	"1023"	"0"	"1023"	"0"	"c.1023C>A"	"r.(?)"	"p.(Tyr341*)"	"9"
"0000698477"	"00025241"	"99"	"912"	"0"	"912"	"0"	"c.912del"	"r.(?)"	"p.(Lys304Asnfs*25)"	"8"
"0000698478"	"00025241"	"99"	"912"	"0"	"912"	"0"	"c.912del"	"r.(?)"	"p.(Lys304Asnfs*25)"	"8"
"0000698479"	"00025241"	"99"	"912"	"0"	"912"	"0"	"c.912del"	"r.(?)"	"p.(Lys304Asnfs*25)"	"8"
"0000698480"	"00025241"	"99"	"912"	"0"	"912"	"0"	"c.912del"	"r.(?)"	"p.(Lys304Asnfs*25)"	"8"
"0000698481"	"00025241"	"99"	"912"	"0"	"912"	"0"	"c.912del"	"r.(?)"	"p.(Lys304Asnfs*25)"	"8"
"0000698482"	"00025241"	"99"	"861"	"2"	"861"	"2"	"c.861+2T>C"	"r.spl"	"p.?"	"7i"
"0000698483"	"00025241"	"99"	"861"	"2"	"861"	"2"	"c.861+2T>C"	"r.spl"	"p.?"	"7i"
"0000698484"	"00025241"	"99"	"861"	"2"	"861"	"2"	"c.861+2T>C"	"r.spl"	"p.?"	"7i"
"0000698485"	"00025241"	"77"	"206"	"0"	"206"	"0"	"c.206T>C"	"r.(?)"	"p.(Leu69Pro)"	"2"
"0000698486"	"00025241"	"77"	"206"	"0"	"206"	"0"	"c.206T>C"	"r.(?)"	"p.(Leu69Pro)"	"2"
"0000698487"	"00025241"	"77"	"206"	"0"	"206"	"0"	"c.206T>C"	"r.(?)"	"p.(Leu69Pro)"	"2"
"0000698488"	"00025241"	"99"	"448"	"0"	"448"	"0"	"c.448del"	"r.(?)"	"p.(Thr150Argfs*9)"	"4"
"0000698489"	"00025241"	"99"	"701"	"0"	"701"	"0"	"c.701C>G"	"r.(?)"	"p.(Ser234*)"	"7"
"0000698490"	"00025241"	"99"	"343"	"0"	"343"	"0"	"c.343C>T"	"r.(?)"	"p.(Arg115*)"	"3"
"0000698491"	"00025241"	"77"	"250"	"0"	"250"	"0"	"c.250G>A"	"r.(?)"	"p.(Gly84Ser)"	"3"
"0000698492"	"00025241"	"77"	"250"	"0"	"250"	"0"	"c.250G>A"	"r.(?)"	"p.(Gly84Ser)"	"3"
"0000698493"	"00025241"	"77"	"250"	"0"	"250"	"0"	"c.250G>A"	"r.(?)"	"p.(Gly84Ser)"	"3"
"0000698494"	"00025241"	"77"	"250"	"0"	"250"	"0"	"c.250G>A"	"r.(?)"	"p.(Gly84Ser)"	"3"
"0000698495"	"00025241"	"77"	"250"	"0"	"250"	"0"	"c.250G>A"	"r.(?)"	"p.(Gly84Ser)"	"3"
"0000698496"	"00025241"	"77"	"250"	"0"	"250"	"0"	"c.250G>A"	"r.(?)"	"p.(Gly84Ser)"	"3"
"0000698497"	"00025241"	"77"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Pro130Ser)"	"3"
"0000698498"	"00025241"	"33"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	"4"
"0000698499"	"00025241"	"77"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Pro130Ser)"	"3"
"0000698500"	"00025241"	"33"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	"4"
"0000698501"	"00025241"	"77"	"388"	"0"	"388"	"0"	"c.388C>T"	"r.(?)"	"p.(Pro130Ser)"	"3"
"0000698502"	"00025241"	"33"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	"4"
"0000698503"	"00025241"	"33"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	"4"
"0000698504"	"00025241"	"99"	"772"	"0"	"772"	"0"	"c.772C>T"	"r.(?)"	"p.(Gln258*)"	"7"
"0000698505"	"00025241"	"99"	"772"	"0"	"772"	"0"	"c.772C>T"	"r.(?)"	"p.(Gln258*)"	"7"
"0000698506"	"00025241"	"99"	"835"	"0"	"835"	"0"	"c.835del"	"r.(?)"	"p.(Ala279Hisfs*18)"	"7"
"0000698507"	"00025241"	"99"	"894"	"0"	"894"	"0"	"c.894delinsGC"	"r.(?)"	"p.(Gly299Argfs*3)"	"8"
"0000698508"	"00025241"	"99"	"975"	"0"	"975"	"0"	"c.975C>A"	"r.(?)"	"p.(Tyr325*)"	"8"
"0000698509"	"00025241"	"55"	"1160"	"0"	"1160"	"0"	"c.1160G>A"	"r.(?)"	"p.(Ser387Asn)"	"11"
"0000698510"	"00025241"	"99"	"0"	"0"	"0"	"0"	"c.-550_*2258{0}"	"r.0"	"p.0"	"_1_11_"
"0000698511"	"00025241"	"99"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	"?"
"0000698512"	"00025241"	"99"	"43"	"1"	"43"	"1"	"c.43+1G>C"	"r.spl"	"p.?"	"1i"
"0000698513"	"00025241"	"77"	"74"	"0"	"74"	"0"	"c.74G>T"	"r.(?)"	"p.(Gly25Val)"	"2"
"0000698514"	"00025241"	"77"	"74"	"0"	"74"	"0"	"c.74G>T"	"r.(?)"	"p.(Gly25Val)"	"2"
"0000698515"	"00025241"	"77"	"98"	"0"	"98"	"0"	"c.98T>G"	"r.(?)"	"p.(Leu33Arg)"	"2"
"0000698516"	"00025241"	"77"	"182"	"0"	"182"	"0"	"c.182G>T"	"r.(?)"	"p.(Ser61Ile)"	"2"
"0000698517"	"00025241"	"99"	"184"	"0"	"198"	"0"	"c.184_198del"	"r.(?)"	"p.(His62_Ser66del)"	"2"
"0000698518"	"00025241"	"99"	"861"	"1"	"861"	"1"	"c.861+1G>C"	"r.spl"	"p.?"	"7i"
"0000698519"	"00025241"	"99"	"861"	"1"	"861"	"1"	"c.861+1G>C"	"r.spl"	"p.?"	"7i"
"0000698520"	"00025241"	"77"	"350"	"0"	"350"	"0"	"c.350G>C"	"r.(?)"	"p.(Arg117Pro)"	"3"
"0000698521"	"00025241"	"55"	"1090"	"233"	"1090"	"233"	"c.1090+233A>T"	"r.(?)"	"p.(Thr368Ser)"	"10"
"0000698522"	"00025241"	"55"	"410"	"5"	"410"	"5"	"c.410+5G>A"	"r.spl"	"p.?"	"3i"
"0000698523"	"00025241"	"99"	"228"	"0"	"251"	"0"	"c.228_251dup"	"r.(?)"	"p.(Ser77_Gly84dup)"	"3"
"0000698524"	"00025241"	"99"	"228"	"0"	"251"	"0"	"c.228_251dup"	"r.(?)"	"p.(Ser77_Gly84dup)"	"3"
"0000698525"	"00025241"	"99"	"228"	"0"	"251"	"0"	"c.228_251dup"	"r.(?)"	"p.(Ser77_Gly84dup)"	"3"
"0000698526"	"00025241"	"99"	"219"	"0"	"219"	"0"	"c.219C>G"	"r.(?)"	"p.(Tyr73*)"	"3"
"0000698527"	"00025241"	"99"	"219"	"0"	"219"	"0"	"c.219C>G"	"r.(?)"	"p.(Tyr73*)"	"3"
"0000698528"	"00025241"	"99"	"219"	"0"	"219"	"0"	"c.219C>G"	"r.(?)"	"p.(Tyr73*)"	"3"
"0000698529"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698530"	"00025241"	"97"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698531"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698532"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698533"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698534"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698535"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698536"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698537"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698538"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698539"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698540"	"00025241"	"99"	"223"	"0"	"225"	"0"	"c.223_225dup"	"r.(?)"	"p.(Thr75dup)"	"3"
"0000698541"	"00025241"	"77"	"419"	"0"	"419"	"0"	"c.419G>A"	"r.(?)"	"p.(Arg140Gln)"	"4"
"0000698542"	"00025241"	"99"	"411"	"-2"	"411"	"-2"	"c.411-2A>G"	"r.spl"	"p.?"	"3i"
"0000698543"	"00025241"	"77"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698544"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698545"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698546"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698547"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698548"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698549"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698550"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698551"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698552"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698553"	"00025241"	"99"	"343"	"0"	"343"	"0"	"c.343C>T"	"r.(?)"	"p.(Arg115*)"	"3"
"0000698554"	"00025241"	"77"	"182"	"0"	"182"	"0"	"c.182G>A"	"r.(?)"	"p.(Ser61Asn)"	"2"
"0000698555"	"00025241"	"77"	"182"	"0"	"182"	"0"	"c.182G>A"	"r.(?)"	"p.(Ser61Asn)"	"2"
"0000698556"	"00025241"	"33"	"453"	"0"	"453"	"0"	"c.453G>A"	"r.(?)"	"p.(=)"	"4"
"0000698557"	"00025241"	"33"	"527"	"0"	"527"	"0"	"c.527G>C"	"r.(?)"	"p.(Ser176Thr)"	"5"
"0000698558"	"00025241"	"33"	"478"	"0"	"478"	"0"	"c.478G>A"	"r.(?)"	"p.(Ala160Thr)"	"4"
"0000698559"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698560"	"00025241"	"99"	"0"	"0"	"0"	"0"	"c.-550_*2258{0}"	"r.0"	"p.0"	"_1_11_"
"0000698561"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698562"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698563"	"00025241"	"77"	"155"	"0"	"155"	"0"	"c.155G>A"	"r.(?)"	"p.(Cys52Tyr)"	"2"
"0000698564"	"00025241"	"77"	"155"	"0"	"155"	"0"	"c.155G>A"	"r.(?)"	"p.(Cys52Tyr)"	"2"
"0000698565"	"00025241"	"99"	"0"	"0"	"0"	"0"	"c.-550_*2258{0}"	"r.0"	"p.0"	"_1_11_"
"0000698566"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698567"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698568"	"00025241"	"99"	"861"	"1"	"861"	"1"	"c.861+1G>A"	"r.spl"	"p.?"	"7i"
"0000698569"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698570"	"00025241"	"99"	"754"	"0"	"754"	"0"	"c.754C>T"	"r.(?)"	"p.(Arg252*)"	"7"
"0000698571"	"00025241"	"99"	"861"	"1"	"861"	"1"	"c.861+1G>A"	"r.spl"	"p.?"	"7i"
"0000698572"	"00025241"	"77"	"350"	"0"	"350"	"0"	"c.350G>C"	"r.(?)"	"p.(Arg117Pro)"	"3"
"0000698573"	"00025241"	"55"	"1284"	"0"	"1284"	"0"	"c.1284C>G"	"r.(?)"	"p.(Ile428Met)"	"11"
"0000698574"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698575"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698576"	"00025241"	"99"	"567"	"0"	"568"	"0"	"c.567_568dup"	"r.(?)"	"p.(Ile190Argfs*39)"	"5"
"0000698577"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698578"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698579"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698580"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698581"	"00025241"	"77"	"211"	"0"	"211"	"0"	"c.211A>G"	"r.(?)"	"p.(Arg71Gly)"	"2"
"0000698582"	"00025241"	"77"	"320"	"0"	"320"	"0"	"c.320C>T"	"r.(?)"	"p.(Pro107Leu)"	"3"
"0000698583"	"00025241"	"99"	"343"	"0"	"343"	"0"	"c.343C>T"	"r.(?)"	"p.(Arg115*)"	"3"
"0000698584"	"00025241"	"99"	"408"	"0"	"408"	"0"	"c.408del"	"r.(?)"	"p.(Asn136Lysfs*23)"	"3"
"0000698585"	"00025241"	"99"	"408"	"0"	"408"	"0"	"c.408del"	"r.(?)"	"p.(Asn136Lysfs*23)"	"3"
"0000698586"	"00025241"	"53"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	"4"
"0000698587"	"00025241"	"53"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	"4"
"0000698588"	"00025241"	"53"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	"4"
"0000698589"	"00025241"	"55"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	"4"
"0000698590"	"00025241"	"77"	"239"	"0"	"239"	"0"	"c.239C>T"	"r.(?)"	"p.(Pro80Leu)"	"3"
"0000698591"	"00025241"	"77"	"565"	"0"	"565"	"0"	"c.565G>A"	"r.(?)"	"p.(Gly189Arg)"	"5"
"0000698592"	"00025241"	"77"	"565"	"0"	"565"	"0"	"c.565G>A"	"r.(?)"	"p.(Gly189Arg)"	"2"
"0000698593"	"00025241"	"77"	"565"	"0"	"565"	"0"	"c.565G>A"	"r.(?)"	"p.(Gly189Arg)"	"2"
"0000698594"	"00025241"	"77"	"565"	"0"	"565"	"0"	"c.565G>A"	"r.(?)"	"p.(Gly189Arg)"	"2"
"0000698595"	"00025241"	"77"	"565"	"0"	"565"	"0"	"c.565G>A"	"r.(?)"	"p.(Gly189Arg)"	"2"
"0000698596"	"00025241"	"77"	"398"	"0"	"398"	"0"	"c.398C>T"	"r.(?)"	"p.(Ser133Phe)"	"3"
"0000698597"	"00025241"	"77"	"167"	"0"	"167"	"0"	"c.167G>A"	"r.(?)"	"p.(Arg56Gln)"	"2"
"0000698598"	"00025241"	"75"	"448"	"0"	"448"	"0"	"c.448A>G"	"r.(?)"	"p.(Thr150Ala)"	"4"
"0000698599"	"00025241"	"99"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104*)"	"3"
"0000698600"	"00025241"	"99"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104*)"	"3"
"0000698601"	"00025241"	"99"	"310"	"0"	"310"	"0"	"c.310C>T"	"r.(?)"	"p.(Arg104*)"	"3"
"0000698602"	"00025241"	"77"	"887"	"0"	"887"	"0"	"c.887T>C"	"r.(?)"	"p.(Leu296Pro)"	"8"
"0000698603"	"00025241"	"55"	"415"	"0"	"415"	"0"	"c.415A>G"	"r.(?)"	"p.(Ile139Val)"	"4"
"0000698604"	"00025241"	"55"	"985"	"0"	"985"	"0"	"c.985A>G"	"r.(?)"	"p.(Thr329Ala)"	"8"
"0000698605"	"00025241"	"77"	"5"	"0"	"5"	"0"	"c.5A>G"	"r.(?)"	"p.(Asp2Gly)"	"1"
"0000698606"	"00025241"	"77"	"892"	"0"	"892"	"0"	"c.892C>T"	"r.(?)"	"p.(Pro298Ser)"	"8"
"0000698607"	"00025241"	"77"	"887"	"0"	"887"	"0"	"c.887T>C"	"r.(?)"	"p.(Leu296Pro)"	"8"
"0000698608"	"00025241"	"77"	"884"	"0"	"884"	"0"	"c.884C>T"	"r.(?)"	"p.(Ala295Val)"	"8"
"0000698609"	"00025241"	"55"	"1218"	"0"	"1218"	"0"	"c.1218T>C"	"r.(?)"	"p.(=)"	"11"
"0000698610"	"00025241"	"70"	"418"	"0"	"418"	"0"	"c.418C>T"	"r.(?)"	"p.(Arg140Trp)"	"4"
"0000698611"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698612"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698613"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698614"	"00025241"	"99"	"752"	"0"	"752"	"0"	"c.752T>A"	"r.(?)"	"p.(Leu251*)"	"7"
"0000698615"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698616"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698617"	"00025241"	"99"	"119"	"0"	"120"	"0"	"c.119_120del"	"r.(?)"	"p.(Arg40Hisfs*13)"	"2"
"0000698618"	"00025241"	"99"	"119"	"0"	"120"	"0"	"c.119_120del"	"r.(?)"	"p.(Arg40Hisfs*13)"	"2"
"0000698619"	"00025241"	"99"	"119"	"0"	"120"	"0"	"c.119_120del"	"r.(?)"	"p.(Arg40Hisfs*13)"	"2"
"0000698620"	"00025241"	"99"	"119"	"0"	"120"	"0"	"c.119_120del"	"r.(?)"	"p.(Arg40Hisfs*13)"	"2"
"0000698621"	"00025241"	"99"	"119"	"0"	"120"	"0"	"c.119_120del"	"r.(?)"	"p.(Arg40Hisfs*13)"	"2"
"0000698622"	"00025241"	"77"	"212"	"0"	"212"	"0"	"c.212G>C"	"r.(?)"	"p.(Arg71Thr)"	"2"
"0000698623"	"00025241"	"77"	"212"	"0"	"212"	"0"	"c.212G>C"	"r.(?)"	"p.(Arg71Thr)"	"2"
"0000698624"	"00025241"	"77"	"1023"	"0"	"1023"	"0"	"c.1023C>A"	"r.(?)"	"p.(Tyr341*)"	"9"
"0000698625"	"00025241"	"77"	"187"	"0"	"187"	"0"	"c.187G>A"	"r.(?)"	"p.(Gly63Ser)"	"2"
"0000698626"	"00025241"	"99"	"58"	"0"	"64"	"0"	"c.58_64dup"	"r.(?)"	"p.(Gln22Argfs*34)"	"2"
"0000698627"	"00025241"	"99"	"223"	"0"	"224"	"0"	"c.223_224dup"	"r.(?)"	"p.(Gly76Profs*8)"	"3"
"0000698628"	"00025241"	"99"	"-30"	"0"	"1519"	"0"	"c.(?_-30)_(*220_?)del"	"r.0?"	"p.0?"	"_1_11_"
"0000698629"	"00025241"	"77"	"183"	"0"	"183"	"0"	"c.183C>A"	"r.(?)"	"p.(Ser61Arg)"	"2"
"0000698630"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76del"	"r.(?)"	"p.(Val26Cysfs*3)"	"2"
"0000698631"	"00025241"	"99"	"446"	"0"	"446"	"0"	"c.446del"	"r.(?)"	"p.(Pro149Glnfs*10)"	"4"
"0000698632"	"00025241"	"99"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyFS*28)"	"2"
"0000698633"	"00025241"	"99"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Ala111Thr)"	"3"
"0000698634"	"00025241"	"77"	"212"	"0"	"212"	"0"	"c.212G>A"	"r.(?)"	"p.(Arg71Lys)"	"2"
"0000698635"	"00025241"	"99"	"-30"	"0"	"410"	"1"	"c.(?_-30)_(410+1_411-1)del"	"r.0?"	"p.0?"	"_1_3i"
"0000698636"	"00025241"	"99"	"442"	"0"	"496"	"0"	"c.(?_442)_(496_?)del"	"r.?"	"p.?"	"4"
"0000698637"	"00025241"	"95"	"221"	"0"	"226"	"0"	"c.221_226dup"	"r.(?)"	"p.(Glu74_Thr75dup)"	"3"
"0000698638"	"00025241"	"99"	"0"	"0"	"0"	"0"	"c.-550_*2258{0}"	"r.0"	"p.0"	"_1_11_"
"0000698639"	"00025241"	"99"	"0"	"0"	"0"	"0"	"c.-550_*2258{0}"	"r.0"	"p.0"	"_1_11_"
"0000698640"	"00025241"	"97"	"213"	"-2"	"213"	"-2"	"c.213-2A>G"	"r.(?)"	"p.?"	"2i"
"0000698641"	"00025241"	"77"	"389"	"0"	"389"	"0"	"c.389C>G"	"r.(?)"	"p.(Pro130Arg)"	"3"
"0000698642"	"00025241"	"75"	"988"	"0"	"988"	"0"	"c.988G>A"	"r.(?)"	"p.(Gly330Ser)"	"8"
"0000713255"	"00025241"	"90"	"1001"	"0"	"1001"	"0"	"c.1001C>T"	"r.(?)"	"p.(Ala334Val)"	""
"0000713994"	"00025241"	"50"	"545"	"0"	"545"	"0"	"c.545T>G"	"r.(?)"	"p.(Val182Gly)"	""
"0000722637"	"00025241"	"90"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyfsTer28)"	""
"0000722638"	"00025241"	"30"	"478"	"0"	"478"	"0"	"c.478G>A"	"r.(?)"	"p.(Ala160Thr)"	""
"0000765441"	"00025241"	"90"	"685"	"2"	"685"	"2"	"c.685+2T>C"	"r.(?)"	"p.?"	""
"0000765463"	"00025241"	"70"	"1172"	"0"	"1172"	"0"	"c.1172C>T"	"r.(?)"	"p.(Phe386=)"	""
"0000784624"	"00025241"	"50"	"685"	"2"	"685"	"2"	"c.685+2T>C"	"r.spl"	"p.?"	""
"0000784664"	"00025241"	"50"	"943"	"0"	"943"	"0"	"c.943C>A"	"r.(?)"	"p.(Leu315Met)"	""
"0000793797"	"00025241"	"70"	"545"	"0"	"545"	"0"	"c.545T>G"	"r.(?)"	"p.(Val182Gly)"	"5"
"0000794235"	"00025241"	"70"	"95"	"0"	"95"	"0"	"c.95C>G"	"r.(?)"	"p.(Pro32Arg)"	""
"0000797016"	"00025241"	"50"	"593"	"0"	"593"	"0"	"c.593G>A"	"r.(?)"	"p.(Gly198Asp)"	"5"
"0000804262"	"00025241"	"30"	"97"	"0"	"97"	"0"	"c.97C>T"	"r.(?)"	"p.(Leu33=)"	""
"0000804263"	"00025241"	"90"	"383"	"0"	"384"	"0"	"c.383_384del"	"r.(?)"	"p.(Thr128Serfs*52)"	""
"0000804264"	"00025241"	"30"	"492"	"0"	"492"	"0"	"c.492C>T"	"r.(?)"	"p.(Thr164=)"	""
"0000804265"	"00025241"	"30"	"936"	"0"	"936"	"0"	"c.936C>G"	"r.(?)"	"p.(Asn312Lys)"	""
"0000804266"	"00025241"	"30"	"1232"	"0"	"1232"	"0"	"c.1232G>A"	"r.(?)"	"p.(Ser411Asn)"	""
"0000839671"	"00025241"	"70"	"8"	"0"	"8"	"0"	"c.8T>C"	"r.(?)"	"p.(Met3Thr)"	"1"
"0000847239"	"00025241"	"70"	"212"	"0"	"212"	"0"	"c.212G>T"	"r.(?)"	"p.(Arg71Met)"	"2"
"0000847240"	"00025241"	"70"	"153"	"0"	"155"	"0"	"c.153_155delinsTT"	"r.(?)"	"p.(Cys52Leufs*31)"	"2"
"0000852354"	"00025241"	"30"	"43"	"3"	"43"	"3"	"c.43+3G>A"	"r.spl?"	"p.?"	""
"0000852355"	"00025241"	"30"	"96"	"0"	"96"	"0"	"c.96C>G"	"r.(?)"	"p.(Pro32=)"	""
"0000852356"	"00025241"	"50"	"131"	"0"	"131"	"0"	"c.131T>C"	"r.(?)"	"p.(Leu44Pro)"	""
"0000852357"	"00025241"	"50"	"226"	"0"	"226"	"0"	"c.226G>C"	"r.(?)"	"p.(Gly76Arg)"	""
"0000852358"	"00025241"	"30"	"477"	"0"	"477"	"0"	"c.477C>T"	"r.(?)"	"p.(Thr159=)"	""
"0000852359"	"00025241"	"50"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	""
"0000852360"	"00025241"	"30"	"585"	"0"	"585"	"0"	"c.585C>A"	"r.(?)"	"p.(Arg195=)"	""
"0000852361"	"00025241"	"30"	"1227"	"0"	"1227"	"0"	"c.1227C>T"	"r.(?)"	"p.(Ala409=)"	""
"0000852362"	"00025241"	"30"	"1284"	"0"	"1284"	"0"	"c.1284C>G"	"r.(?)"	"p.(Ile428Met)"	""
"0000861788"	"00025241"	"30"	"453"	"0"	"453"	"0"	"c.453G>C"	"r.(?)"	"p.(Pro151=)"	""
"0000861789"	"00025241"	"90"	"686"	"-1"	"686"	"-1"	"c.686-1G>A"	"r.spl?"	"p.?"	""
"0000861790"	"00025241"	"10"	"1090"	"141"	"1090"	"141"	"c.1090+141C>A"	"r.(=)"	"p.(=)"	""
"0000873624"	"00025241"	"70"	"418"	"0"	"418"	"0"	"c.418C>T"	"r.(?)"	"p.(Arg140Trp)"	""
"0000888961"	"00025241"	"30"	"410"	"16"	"410"	"16"	"c.410+16G>A"	"r.(=)"	"p.(=)"	""
"0000913195"	"00025241"	"90"	"213"	"-1"	"213"	"-1"	"c.213-1G>A"	"r.spl?"	"p.?"	""
"0000913196"	"00025241"	"50"	"607"	"0"	"607"	"0"	"c.607C>T"	"r.(?)"	"p.(Arg203Cys)"	""
"0000913197"	"00025241"	"30"	"1284"	"0"	"1284"	"0"	"c.1284C>G"	"r.(?)"	"p.(Ile428Met)"	""
"0000919622"	"00025241"	"90"	"69"	"0"	"69"	"0"	"c.69del"	"r.(?)"	"p.(Val26Cysfs*3)"	"2"
"0000925098"	"00025241"	"30"	"-10522"	"0"	"-10522"	"0"	"c.-10522A>T"	"r.(?)"	"p.(=)"	""
"0000925099"	"00025241"	"30"	"478"	"0"	"478"	"0"	"c.478G>A"	"r.(?)"	"p.(Ala160Thr)"	""
"0000929635"	"00025241"	"30"	"1032"	"0"	"1032"	"0"	"c.1032C>T"	"r.(?)"	"p.(His344=)"	""
"0000949331"	"00025241"	"30"	"888"	"0"	"888"	"0"	"c.888G>C"	"r.(?)"	"p.(Leu296=)"	""
"0000949332"	"00025241"	"30"	"1232"	"0"	"1232"	"0"	"c.1232G>A"	"r.(?)"	"p.(Ser411Asn)"	""
"0000965558"	"00025241"	"90"	"43"	"2"	"43"	"2"	"c.43+2T>C"	"r.spl?"	"p.?"	""
"0000965559"	"00025241"	"50"	"101"	"0"	"101"	"0"	"c.101C>G"	"r.(?)"	"p.(Pro34Arg)"	""
"0000965560"	"00025241"	"50"	"106"	"0"	"106"	"0"	"c.106G>A"	"r.(?)"	"p.(Val36Met)"	""
"0000965561"	"00025241"	"30"	"880"	"0"	"880"	"0"	"c.880C>T"	"r.(?)"	"p.(Pro294Ser)"	""
"0000978856"	"00025241"	"30"	"213"	"-8"	"213"	"-8"	"c.213-8del"	"r.(=)"	"p.(=)"	""
"0000978857"	"00025241"	"30"	"453"	"0"	"453"	"0"	"c.453G>A"	"r.(?)"	"p.(Pro151=)"	""
"0000978858"	"00025241"	"30"	"529"	"0"	"529"	"0"	"c.529G>A"	"r.(?)"	"p.(Ala177Thr)"	""
"0000998045"	"00025241"	"50"	"2"	"0"	"2"	"0"	"c.2T>A"	"r.(?)"	"p.?"	""
"0000998046"	"00025241"	"50"	"491"	"0"	"491"	"0"	"c.491C>A"	"r.(?)"	"p.(Thr164Asn)"	""
"0000998047"	"00025241"	"30"	"506"	"0"	"506"	"0"	"c.506C>T"	"r.(?)"	"p.(Thr169Met)"	""
"0000998048"	"00025241"	"50"	"707"	"0"	"707"	"0"	"c.707C>G"	"r.(?)"	"p.(Pro236Arg)"	""
"0000998049"	"00025241"	"30"	"797"	"0"	"797"	"0"	"c.797G>A"	"r.(?)"	"p.(Arg266Gln)"	""
"0001025700"	"00025241"	"90"	"76"	"0"	"76"	"0"	"c.76dup"	"r.(?)"	"p.(Val26GlyfsTer28)"	""
"0001025701"	"00025241"	"50"	"349"	"0"	"349"	"0"	"c.349C>T"	"r.(?)"	"p.(Arg117Trp)"	""
"0001037676"	"00025241"	"30"	"677"	"0"	"677"	"0"	"c.677C>T"	"r.(?)"	"p.(Thr226Ile)"	""
"0001037677"	"00025241"	"30"	"895"	"0"	"895"	"0"	"c.895G>A"	"r.(?)"	"p.(Gly299Arg)"	""
"0001037678"	"00025241"	"30"	"1232"	"0"	"1232"	"0"	"c.1232G>A"	"r.(?)"	"p.(Ser411Asn)"	""
"0001053678"	"00025241"	"30"	"563"	"0"	"563"	"0"	"c.563A>G"	"r.(?)"	"p.(Asn188Ser)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 282
"{{screeningid}}"	"{{variantid}}"
"0000000210"	"0000012875"
"0000000210"	"0000012876"
"0000050514"	"0000079494"
"0000133815"	"0000223243"
"0000133816"	"0000223244"
"0000316230"	"0000698380"
"0000316231"	"0000698381"
"0000316232"	"0000698382"
"0000316233"	"0000698383"
"0000316234"	"0000698384"
"0000316235"	"0000698385"
"0000316236"	"0000698386"
"0000316237"	"0000698387"
"0000316238"	"0000698388"
"0000316239"	"0000698389"
"0000316240"	"0000698390"
"0000316241"	"0000698391"
"0000316242"	"0000698392"
"0000316243"	"0000698393"
"0000316244"	"0000698394"
"0000316245"	"0000698395"
"0000316246"	"0000698396"
"0000316247"	"0000698397"
"0000316248"	"0000698398"
"0000316249"	"0000698399"
"0000316250"	"0000698400"
"0000316251"	"0000698401"
"0000316252"	"0000698402"
"0000316253"	"0000698403"
"0000316254"	"0000698404"
"0000316255"	"0000698405"
"0000316256"	"0000698406"
"0000316257"	"0000698407"
"0000316258"	"0000698408"
"0000316259"	"0000698409"
"0000316260"	"0000698410"
"0000316261"	"0000698411"
"0000316262"	"0000698412"
"0000316263"	"0000698413"
"0000316264"	"0000698414"
"0000316265"	"0000698415"
"0000316266"	"0000698416"
"0000316267"	"0000698417"
"0000316268"	"0000698418"
"0000316269"	"0000698419"
"0000316270"	"0000698420"
"0000316271"	"0000698421"
"0000316272"	"0000698422"
"0000316273"	"0000698423"
"0000316274"	"0000698424"
"0000316275"	"0000698425"
"0000316276"	"0000698426"
"0000316277"	"0000698427"
"0000316278"	"0000698428"
"0000316279"	"0000698429"
"0000316280"	"0000698430"
"0000316281"	"0000698431"
"0000316282"	"0000698432"
"0000316283"	"0000698433"
"0000316284"	"0000698434"
"0000316285"	"0000698435"
"0000316286"	"0000698436"
"0000316287"	"0000698437"
"0000316288"	"0000698438"
"0000316289"	"0000698439"
"0000316290"	"0000698440"
"0000316291"	"0000698441"
"0000316292"	"0000698442"
"0000316293"	"0000698443"
"0000316294"	"0000698444"
"0000316295"	"0000698445"
"0000316296"	"0000698446"
"0000316297"	"0000698447"
"0000316298"	"0000698448"
"0000316299"	"0000698449"
"0000316300"	"0000698450"
"0000316301"	"0000698451"
"0000316302"	"0000698452"
"0000316303"	"0000698453"
"0000316304"	"0000698454"
"0000316305"	"0000698455"
"0000316306"	"0000698456"
"0000316307"	"0000698457"
"0000316308"	"0000698458"
"0000316309"	"0000698459"
"0000316310"	"0000698460"
"0000316311"	"0000698461"
"0000316312"	"0000698462"
"0000316313"	"0000698463"
"0000316314"	"0000698464"
"0000316315"	"0000698465"
"0000316316"	"0000698466"
"0000316317"	"0000698467"
"0000316318"	"0000698468"
"0000316319"	"0000698469"
"0000316320"	"0000698470"
"0000316321"	"0000698471"
"0000316322"	"0000698472"
"0000316323"	"0000698473"
"0000316324"	"0000698474"
"0000316325"	"0000698475"
"0000316326"	"0000698476"
"0000316327"	"0000698477"
"0000316328"	"0000698478"
"0000316329"	"0000698479"
"0000316330"	"0000698480"
"0000316331"	"0000698481"
"0000316332"	"0000698482"
"0000316333"	"0000698483"
"0000316334"	"0000698484"
"0000316335"	"0000698485"
"0000316336"	"0000698486"
"0000316337"	"0000698487"
"0000316338"	"0000698488"
"0000316339"	"0000698489"
"0000316340"	"0000698490"
"0000316341"	"0000698491"
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