### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CSPP1)
# 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}}"
"CSPP1"	"centrosome and spindle pole associated protein 1"	"8"	"q13.2"	"unknown"	"NC_000008.10"	"UD_136086405630"	""	"http://www.LOVD.nl/CSPP1"	""	"1"	"26193"	"79848"	"611654"	"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"	"http://databases.lovd.nl/shared/refseq/CSPP1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2016-06-19 20:59:10"	"00000"	"2025-05-05 21:14:00"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00005773"	"CSPP1"	"centrosome and spindle pole associated protein 1"	"001"	"NM_024790.6"	""	"NP_079066.5"	""	""	""	"-31"	"4687"	"3666"	"67976603"	"68108849"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00379"	"SRTD1"	"dysplasia, short-rib thoracic, type 1, with/without polydactyly (SRTD-1, dystrophy, asphyxiating thoracic; Jeune syndrome)"	""	"208500"	""	""	""	"00006"	"2014-05-02 10:26:00"	"00006"	"2021-12-10 21:51:32"
"04039"	"JBTS21"	"Joubert syndrome, type 21 (JBTS-21)"	"AR"	"615636"	""	""	""	"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"
"05109"	"JBTS"	"Joubert syndrome (JBTS)"	""	""	""	""	""	"00006"	"2016-01-09 00:37:44"	""	""
"06886"	"HR"	"hypophosphataemic rickets"	""	""	""	""	""	"00006"	"2021-12-18 20:30:38"	"00006"	"2021-12-18 20:31:29"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"CSPP1"	"04039"


## Individuals ## Do not remove or alter this header ##
## Count = 52
"{{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}}"
"00017647"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"M"	"no"	"United States"	""	"0"	""	""	"African American"	""
"00017707"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	"Saudi Arabia"	""	"0"	""	""	"Saudi"	""
"00017792"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	""	""	"0"	""	""	"European"	""
"00017793"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	""	""	"0"	""	""	"European"	""
"00017794"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"no"	"Brazil"	""	"0"	""	""	"Brazillian"	""
"00017795"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"no"	"Brazil"	""	"0"	""	""	"Brazillian"	""
"00017796"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	"Turkey"	""	"0"	""	""	"Turkish"	""
"00017801"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	"China"	""	"0"	""	""	"Chinese"	""
"00017802"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	"Turkey"	""	"0"	""	""	"Turkish"	""
"00017803"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	"Turkey"	""	"0"	""	""	"Turkish"	""
"00017804"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	"Turkey"	""	"0"	""	""	"Turkish"	""
"00017805"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	""	""	"0"	""	""	"European"	""
"00017806"	""	""	""	"2"	""	"00705"	"{PMID:Tuz 2014:24360808}"	"2-generation family, 2 affected, unaffected heterozygous carrier parents"	"?"	"?"	""	""	"0"	""	""	"European, north"	""
"00017807"	""	""	""	"2"	""	"00705"	"{PMID:Tuz 2014:24360808}"	"2-generation family, 2 affecteds, unaffected heterozygous carrier parents"	"?"	"?"	"India"	""	"0"	""	""	"Indian"	""
"00017808"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	"Lebanon"	""	"0"	""	""	"Lebanese"	""
"00017809"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	"Brazil"	""	"0"	""	""	"Brazillian"	""
"00017810"	""	""	""	"1"	""	"00705"	"{PMID:Tuz 2014:24360808}"	""	"?"	"?"	"India"	""	"0"	""	""	"Indian"	""
"00017812"	""	""	""	"1"	""	"00705"	"{PMID:Shaheen 2014:24360803}"	"5-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"yes"	"Saudi Arabia"	"<00y00m00d"	"0"	""	""	"Saudi"	""
"00017813"	""	""	""	"1"	""	"00705"	"{PMID:Shaheen 2014:24360803}"	""	"F"	"yes"	"Saudi Arabia"	"<00y00m00d"	"0"	""	""	"Arab"	""
"00017814"	""	""	""	"1"	""	"00705"	"{PMID:Shaheen 2014:24360803}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/sib"	"F"	"yes"	"Canada"	""	"0"	""	""	"Hutterite, Schmiedeleut"	""
"00017815"	""	""	""	"2"	""	"00705"	"{PMID:Shaheen 2014:24360803}"	"2-generation family, 2 affected, unaffected heterozygous carrier parents, sister of 24360803-Fam3PatII2"	"F"	"yes"	"Canada"	"00y00m28d"	"0"	""	""	"Schmiedeleut Hutterite"	""
"00017816"	""	""	"00017815"	"1"	""	"00705"	"{PMID:Shaheen 2014:24360803}"	"2-generation family, 2 affected sibs, unaffected heterozygous carrier parents"	"M"	"yes"	"Canada"	"00y00m24d"	"0"	""	""	"Hutterite, Schmiedeleut"	""
"00080861"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00294656"	""	""	""	"205"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00295445"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00305202"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00358850"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam8"
"00372255"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW035-3"
"00372256"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW097-3"
"00372257"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW097-6"
"00372258"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW123-3"
"00372259"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW124-3"
"00372260"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW127-3"
"00372261"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW128-3"
"00372262"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW129-3"
"00372263"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW129-4"
"00372264"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW130-3"
"00372265"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW137-3"
"00372266"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW143-3"
"00372267"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW143-4"
"00372268"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW147-3"
"00372269"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW148-3"
"00372270"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW151-3"
"00372271"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW290-3"
"00375417"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#009"
"00375418"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#010"
"00375429"	""	""	""	"1"	""	"00000"	"{PMID:Katagiri 2014:25268133}"	"family"	""	""	"Japan"	""	"0"	""	""	""	"RP#023"
"00377685"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 72"	"F"	""	"United States"	""	"0"	""	""	""	"466"
"00377686"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 73"	"F"	""	"United States"	""	"0"	""	""	""	"387"
"00388095"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"466"
"00401288"	""	""	""	"5"	""	"00006"	"{PMID:Cebeci 2020:31821448}"	"3-generation family, 5 affected (4F, M)"	"F;M"	""	"Saudi Arabia"	""	"0"	""	""	""	"family"
"00426929"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 32, individual 38"	"M"	""	""	""	"0"	""	""	""	"32_38"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 55
"{{individualid}}"	"{{diseaseid}}"
"00017647"	"00379"
"00017647"	"05109"
"00017707"	"05109"
"00017792"	"00379"
"00017792"	"05109"
"00017793"	"00379"
"00017793"	"05109"
"00017794"	"05109"
"00017795"	"05109"
"00017796"	"05109"
"00017801"	"05109"
"00017802"	"05109"
"00017803"	"05109"
"00017804"	"05109"
"00017805"	"05109"
"00017806"	"05109"
"00017807"	"05109"
"00017808"	"05109"
"00017809"	"05109"
"00017810"	"05109"
"00017812"	"05109"
"00017813"	"05109"
"00017814"	"05109"
"00017815"	"05109"
"00017816"	"05109"
"00080861"	"04039"
"00294656"	"00198"
"00295445"	"00198"
"00305202"	"00198"
"00358850"	"05109"
"00372255"	"05109"
"00372256"	"05109"
"00372257"	"05109"
"00372258"	"05109"
"00372259"	"05109"
"00372260"	"05109"
"00372261"	"05109"
"00372262"	"05109"
"00372263"	"05109"
"00372264"	"05109"
"00372265"	"05109"
"00372266"	"05109"
"00372267"	"05109"
"00372268"	"05109"
"00372269"	"05109"
"00372270"	"05109"
"00372271"	"05109"
"00375417"	"04214"
"00375418"	"04214"
"00375429"	"04214"
"00377685"	"04214"
"00377686"	"04214"
"00388095"	"04214"
"00401288"	"06886"
"00426929"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00379, 04039, 04214, 05109, 06886
## Count = 49
"{{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}}"
"0000053527"	"05109"	"00017647"	"00006"	"Familial, autosomal recessive"	"01y"	"see paper;..."	""	""	""	""	""	""	""	""	""	""	""
"0000053528"	"05109"	"00017707"	"00006"	"Familial, autosomal recessive"	"12y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000053529"	"05109"	"00017792"	"00006"	"Familial, autosomal recessive"	"04y"	"see paper; gastrostomy tube, third-nerve palsy, Ptosis, Retina, nystagmus, oculomotor apraxia, Apnea, Tachypnea,..."	""	""	""	""	""	""	""	""	""	""	""
"0000053530"	"05109"	"00017793"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000053531"	"05109"	"00017794"	"00006"	"Familial, autosomal recessive"	"10y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000053532"	"05109"	"00017795"	"00006"	"Familial, autosomal recessive"	"14y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	""
"0000053533"	"05109"	"00017796"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000053534"	"05109"	"00017801"	"00006"	"Familial, autosomal recessive"	"02y"	"Hearing Loss, Ptosis, Tachypnea"	""	""	""	""	""	""	""	""	""	""	""
"0000053535"	"05109"	"00017802"	"00006"	"Familial, autosomal recessive"	"21y"	"Ptosis, liver fibrosis on biopsy, splenomegaly, elevated transaminases, chronic sinusitis"	""	""	""	""	""	""	""	""	""	""	""
"0000053536"	"05109"	"00017803"	"00006"	"Familial, autosomal recessive"	"16y"	"Ptosis, elevated transaminases, chronic\r\nsinusitis"	""	""	""	""	""	""	""	""	""	""	""
"0000053537"	"05109"	"00017804"	"00006"	"Familial, autosomal recessive"	"06y"	"Apnea or Tachypnea, Ptosis, cleft palate, hypertelorism"	""	""	""	""	""	""	""	""	""	""	""
"0000053538"	"05109"	"00017805"	"00006"	"Familial, autosomal recessive"	"22y"	"Tachipnea, Retina, Ptosis, Nystagmus, High-arched palate"	""	""	""	""	""	""	""	""	""	""	""
"0000053539"	"05109"	"00017806"	"00006"	"Familial, autosomal recessive"	""	"1x Tachypnea, obese, oculomotor apraxia 16y+9y"	""	""	""	""	""	""	""	""	""	""	""
"0000053540"	"05109"	"00017807"	"00006"	"Familial, autosomal recessive"	""	"UW143-3 (5y):Tachypnea, Ptosis, hypertelorism, CPEO, mild left optic disc pallor\r\nUW143-4 (2y): hypertelorism, restricted upward gaze"	""	""	""	""	""	""	""	""	""	""	""
"0000053541"	"05109"	"00017808"	"00006"	"Familial, autosomal recessive"	"00y07m"	"Apnea or Tachypnea, Ptosis, Jeune asphyxiating thoracic dystrophy (short ribs, bell-shaped chest, pulmonary hypoplasia, abnormal iliac notches), nasogastric tube, Hearing Loss, high-arched palate"	""	""	""	""	""	""	""	""	""	""	""
"0000053542"	"05109"	"00017809"	"00006"	"Familial, autosomal recessive"	"09y"	"tachypnea or apnea, ptosis, oculomotor apraxia"	""	""	""	""	""	""	""	""	""	""	""
"0000053543"	"05109"	"00017810"	"00006"	"Familial, autosomal recessive"	"06y"	"ptosis"	""	""	""	""	""	""	""	""	""	""	""
"0000053544"	"05109"	"00017812"	"00705"	"Familial, autosomal recessive"	""	"stillbirth 26w; hydranencephaly, a single nostril, and bilateral hyperechogenic kidneys, cephalocentesis, occipitofrontal circumference (OFC) of 39 cm; large fontanels and wide cranial sutures, occipital encephalocele, anophthalmia"	""	""	""	""	""	""	""	""	""	""	""
"0000053545"	"05109"	"00017813"	"00705"	"Familial, autosomal recessive"	""	"stillborn 18; occipital encephalocele, bilateral hyperechogenic kidneys, partially fused eyes"	""	""	""	""	""	""	""	""	""	""	""
"0000053546"	"05109"	"00017814"	"00705"	"Familial, autosomal recessive"	"07y"	"global developmental delay, hypotonia, ataxia, strabismus; neuroimaging confirmed presence molar tooth sign, otherwise healthy, history of racheoesophageal fistula (also seen healthy sister)"	""	""	""	""	""	""	""	""	""	""	""
"0000053547"	"05109"	"00017816"	"00705"	"Familial, autosomal recessive"	""	"died at 3w, autopsy not performed, no clinical evidence renal malformations or other congenital anomalies; AP dimension of the mesencephalon was smaller than expected. The superior cerebellar\r\npeduncles were thick and had a more parallel configuration,giving rise to the molar tooth sign. The cerebellar vermis appeared hypoplastic, the medulla was mildly narrowed, and a mega cisterna magna was also seen"	""	""	""	""	""	""	""	""	""	""	""
"0000053548"	"05109"	"00017815"	"00705"	"Familial, autosomal recessive"	""	"died at 28d; birth respiratory distress, absent inferior cerebellar vermis, dysplastic superior cerebellar vermis, posterior fossa cyst communicating\r\nwith the fourth ventricle, and a molar tooth sign secondary to thickened horizontal superior cerebellar peduncles and a reduced anteroposterior (AP) dimension of the mesencephalon"	""	""	""	""	""	""	""	""	""	""	""
"0000060430"	"04039"	"00080861"	"01758"	"Familial, autosomal recessive"	""	"Joubert syndrome 21  (OMIM:615636)"	""	""	""	""	""	""	""	""	""	""	""
"0000254108"	"05109"	"00358850"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267576"	"05109"	"00372255"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267577"	"05109"	"00372256"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267578"	"05109"	"00372257"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267579"	"05109"	"00372258"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267580"	"05109"	"00372259"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267581"	"05109"	"00372260"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267582"	"05109"	"00372261"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267583"	"05109"	"00372262"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267584"	"05109"	"00372263"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267585"	"05109"	"00372264"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267586"	"05109"	"00372265"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267587"	"05109"	"00372266"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267588"	"05109"	"00372267"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267589"	"05109"	"00372268"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267590"	"05109"	"00372269"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267591"	"05109"	"00372270"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267592"	"05109"	"00372271"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000270631"	"04214"	"00375417"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270632"	"04214"	"00375418"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000270643"	"04214"	"00375429"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272837"	"04214"	"00377685"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus, strabismus, ptosis, retinal degeneration, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272838"	"04214"	"00377686"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, strabismus, ptosis"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000281689"	"04214"	"00388095"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000294307"	"06886"	"00401288"	"00006"	"Familial, autosomal dominant"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"hypophosphataemic rickets"	""
"0000318067"	"04214"	"00426929"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	"Leber congenital amaurosis"	""


## Screenings ## Do not remove or alter this header ##
## Count = 52
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000017688"	"00017647"	"1"	"00705"	"00705"	"2014-06-27 13:43:03"	""	""	"SEQ"	"DNA"	""	""
"0000017689"	"00017707"	"1"	"00705"	"00705"	"2014-06-27 13:56:06"	""	""	"SEQ"	"DNA"	""	""
"0000017774"	"00017792"	"1"	"00705"	"00705"	"2014-06-28 13:19:14"	""	""	"SEQ"	"DNA"	""	""
"0000017775"	"00017793"	"1"	"00705"	"00705"	"2014-06-28 14:29:06"	""	""	"SEQ"	"DNA"	""	""
"0000017776"	"00017794"	"1"	"00705"	"00705"	"2014-06-28 14:55:41"	""	""	"SEQ"	"DNA"	""	""
"0000017777"	"00017795"	"1"	"00705"	"00705"	"2014-06-28 15:56:39"	""	""	"SEQ"	"DNA"	""	""
"0000017778"	"00017796"	"1"	"00705"	"00705"	"2014-06-28 16:11:58"	""	""	"SEQ"	"DNA"	""	""
"0000017783"	"00017801"	"1"	"00705"	"00705"	"2014-06-29 11:24:08"	""	""	"SEQ"	"DNA"	""	""
"0000017784"	"00017802"	"1"	"00705"	"00705"	"2014-06-29 12:05:19"	""	""	"SEQ"	"DNA"	""	""
"0000017785"	"00017803"	"1"	"00705"	"00705"	"2014-06-29 12:11:57"	""	""	"SEQ"	"DNA"	""	""
"0000017786"	"00017804"	"1"	"00705"	"00705"	"2014-06-29 12:17:40"	""	""	"SEQ"	"DNA"	""	""
"0000017787"	"00017805"	"1"	"00705"	"00705"	"2014-06-29 12:24:05"	""	""	"SEQ"	"DNA"	""	""
"0000017788"	"00017806"	"1"	"00705"	"00705"	"2014-06-29 12:39:30"	"00006"	"2016-06-19 22:20:44"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000017789"	"00017807"	"1"	"00705"	"00705"	"2014-06-29 13:09:51"	""	""	"SEQ"	"DNA"	""	""
"0000017790"	"00017808"	"1"	"00705"	"00705"	"2014-06-29 13:43:11"	""	""	"SEQ"	"DNA"	""	""
"0000017791"	"00017809"	"1"	"00705"	"00705"	"2014-06-29 13:49:40"	""	""	"SEQ"	"DNA"	""	""
"0000017792"	"00017810"	"1"	"00705"	"00705"	"2014-06-29 14:04:53"	""	""	"SEQ"	"DNA"	""	""
"0000017794"	"00017812"	"1"	"00705"	"00705"	"2014-06-30 11:31:14"	""	""	"SEQ"	"DNA"	""	""
"0000017795"	"00017813"	"1"	"00705"	"00705"	"2014-06-30 11:45:30"	""	""	"SEQ"	"DNA"	""	""
"0000017796"	"00017814"	"1"	"00705"	"00705"	"2014-06-30 11:58:32"	""	""	"SEQ"	"DNA"	""	""
"0000017797"	"00017815"	"1"	"00705"	"00705"	"2014-06-30 12:12:12"	""	""	"SEQ"	"DNA"	""	""
"0000017798"	"00017816"	"1"	"00705"	"00705"	"2014-06-30 12:15:49"	"00705"	"2014-06-30 12:18:52"	"SEQ"	"DNA"	""	""
"0000080973"	"00080861"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000295824"	"00294656"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000296613"	"00295445"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000306331"	"00305202"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000360082"	"00358850"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000373484"	"00372255"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373485"	"00372256"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373486"	"00372257"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373487"	"00372258"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373488"	"00372259"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373489"	"00372260"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373490"	"00372261"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373491"	"00372262"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373492"	"00372263"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373493"	"00372264"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373494"	"00372265"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373495"	"00372266"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373496"	"00372267"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373497"	"00372268"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373498"	"00372269"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373499"	"00372270"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373500"	"00372271"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000376614"	"00375417"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376615"	"00375418"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000376626"	"00375429"	"1"	"00000"	"00006"	"2021-06-04 09:36:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000378889"	"00377685"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378890"	"00377686"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000389334"	"00388095"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000402532"	"00401288"	"1"	"00006"	"00006"	"2022-01-30 22:32:56"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES SureSelect V5 (Agilent)"
"0000428249"	"00426929"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 45
"{{screeningid}}"	"{{geneid}}"
"0000017688"	"CSPP1"
"0000017689"	"CSPP1"
"0000017774"	"CSPP1"
"0000017775"	"CSPP1"
"0000017776"	"CSPP1"
"0000017777"	"CSPP1"
"0000017778"	"CSPP1"
"0000017783"	"CSPP1"
"0000017784"	"CSPP1"
"0000017785"	"CSPP1"
"0000017786"	"CSPP1"
"0000017787"	"CSPP1"
"0000017788"	"CSPP1"
"0000017789"	"CSPP1"
"0000017790"	"CSPP1"
"0000017791"	"CSPP1"
"0000017792"	"CSPP1"
"0000017794"	"CSPP1"
"0000017795"	"CSPP1"
"0000017796"	"CSPP1"
"0000017797"	"CSPP1"
"0000017798"	"CSPP1"
"0000080973"	"CSPP1"
"0000360082"	"CSPP1"
"0000373484"	"CSPP1"
"0000373485"	"CSPP1"
"0000373486"	"CSPP1"
"0000373487"	"CSPP1"
"0000373488"	"CSPP1"
"0000373489"	"CSPP1"
"0000373490"	"CSPP1"
"0000373491"	"CSPP1"
"0000373492"	"CSPP1"
"0000373493"	"CSPP1"
"0000373494"	"CSPP1"
"0000373495"	"CSPP1"
"0000373496"	"CSPP1"
"0000373497"	"CSPP1"
"0000373498"	"CSPP1"
"0000373499"	"CSPP1"
"0000373500"	"CSPP1"
"0000378889"	"CSPP1"
"0000378890"	"CSPP1"
"0000389334"	"CSPP1"
"0000428249"	"CRB1"


## 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 = 196
"{{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}}"
"0000037762"	"3"	"90"	"8"	"68070775"	"68070775"	"subst"	"3.70306E-5"	"00705"	"CSPP1_000004"	"g.68070775C>T"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67158540C>T"	""	"pathogenic"	""
"0000037900"	"3"	"90"	"8"	"68076638"	"68076638"	"del"	"0"	"00705"	"CSPP1_000005"	"g.68076638del"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67164403del"	""	"pathogenic"	""
"0000037923"	"11"	"90"	"8"	"68070699"	"68070700"	"del"	"0"	"00705"	"CSPP1_000006"	"g.68070699_68070700del"	""	"{PMID:Tuz 2014:24360808}"	""	"2244_2245delAA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67158464_67158465del"	""	"pathogenic"	""
"0000037924"	"21"	"90"	"8"	"68070735"	"68070735"	"del"	"0"	"00705"	"CSPP1_000007"	"g.68070735del"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67158500del"	""	"pathogenic"	""
"0000037925"	"11"	"90"	"8"	"68070699"	"68070700"	"del"	"0"	"00705"	"CSPP1_000006"	"g.68070699_68070700del"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67158464_67158465del"	""	"pathogenic"	""
"0000037926"	"21"	"90"	"8"	"68070735"	"68070735"	"del"	"0"	"00705"	"CSPP1_000008"	"g.68070735del"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67158500del"	""	"pathogenic"	""
"0000037927"	"11"	"90"	"8"	"68102891"	"68102891"	"dup"	"0"	"00705"	"CSPP1_000002"	"g.68102891dup"	""	"{PMID:Tuz 2014:24360808}"	""	"3211_3212insA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67190656dup"	""	"pathogenic"	""
"0000037928"	"21"	"70"	"8"	"68084791"	"68084791"	"subst"	"0"	"00705"	"CSPP1_000003"	"g.68084791G>A"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67172556G>A"	""	"likely pathogenic"	""
"0000037929"	"11"	"90"	"8"	"68102890"	"68102890"	"dup"	"0"	"00705"	"CSPP1_000002"	"g.68102890dup"	""	"{PMID:Tuz 2014:24360808}"	""	""	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000037930"	"21"	"70"	"8"	"68084791"	"68084791"	"subst"	"0"	"00705"	"CSPP1_000003"	"g.68084791G>A"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67172556G>A"	""	"likely pathogenic"	""
"0000037931"	"3"	"90"	"8"	"68071297"	"68071303"	"dup"	"0"	"00705"	"CSPP1_000009"	"g.68071297_68071303dup"	""	"{PMID:Tuz 2014:24360808}"	""	"2448_2454dupAGAAGAA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67159062_67159068dup"	""	"pathogenic"	""
"0000037936"	"21"	"90"	"8"	"68005823"	"68005823"	"del"	"0"	"00705"	"CSPP1_000010"	"g.68005823del"	""	"{PMID:Tuz 2014:24360808}"	""	"457delA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67093588del"	""	"pathogenic"	""
"0000037937"	"11"	"90"	"8"	"68070715"	"68070715"	"subst"	"1.6373E-5"	"00705"	"CSPP1_000011"	"g.68070715C>T"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67158480C>T"	""	"pathogenic"	""
"0000037938"	"11"	"90"	"8"	"68007675"	"68007675"	"subst"	"5.69416E-5"	"00705"	"CSPP1_000012"	"g.68007675C>T"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67095440C>T"	""	"pathogenic"	""
"0000037939"	"21"	"90"	"8"	"68074049"	"68074050"	"del"	"4.07717E-6"	"00705"	"CSPP1_000013"	"g.68074049_68074050del"	""	"{PMID:Tuz 2014:24360808}"	""	"2527_2528delAT"	""	"Germline"	"yes"	""	"0"	""	""	"g.67161814_67161815del"	""	"pathogenic"	""
"0000037940"	"11"	"90"	"8"	"68007675"	"68007675"	"subst"	"5.69416E-5"	"00705"	"CSPP1_000012"	"g.68007675C>T"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67095440C>T"	""	"pathogenic"	""
"0000037941"	"21"	"90"	"8"	"68074049"	"68074050"	"del"	"4.07717E-6"	"00705"	"CSPP1_000013"	"g.68074049_68074050del"	""	"{PMID:Tuz 2014:24360808}"	""	"2527_2528delAT"	""	"Germline"	"yes"	""	"0"	""	""	"g.67161814_67161815del"	""	"pathogenic"	""
"0000037942"	"3"	"90"	"8"	"68074049"	"68074050"	"del"	"4.07717E-6"	"00705"	"CSPP1_000013"	"g.68074049_68074050del"	""	"{PMID:Tuz 2014:24360808}"	""	"2527_2528delAT"	""	"Germline"	"yes"	""	"0"	""	""	"g.67161814_67161815del"	""	"pathogenic"	""
"0000037943"	"21"	"70"	"8"	"68092162"	"68092162"	"subst"	"4.08998E-6"	"00705"	"CSPP1_000014"	"g.68092162G>A"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67179927G>A"	""	"likely pathogenic"	""
"0000037944"	"11"	"70"	"8"	"68007968"	"68007968"	"subst"	"0"	"00705"	"CSPP1_000015"	"g.68007968G>C"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67095733G>C"	""	"likely pathogenic"	""
"0000037945"	"21"	"90"	"8"	"68007669"	"68007669"	"subst"	"0"	"00705"	"CSPP1_000016"	"g.68007669C>T"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67095434C>T"	""	"pathogenic"	""
"0000037946"	"11"	"90"	"8"	"68024300"	"68024300"	"subst"	"1.65559E-5"	"00705"	"CSPP1_000017"	"g.68024300G>A"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67112065G>A"	""	"pathogenic"	""
"0000037947"	"1"	"90"	"8"	"68024218"	"68024218"	"subst"	"2.05965E-5"	"00705"	"CSPP1_000018"	"g.68024218C>T"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67111983C>T"	""	"pathogenic"	""
"0000037948"	"2"	"90"	"8"	"68071290"	"68071293"	"del"	"0"	"00705"	"CSPP1_000019"	"g.68071290_68071293del"	""	"{PMID:Tuz 2014:24360808}"	""	"2441_2444delAGAA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67159055_67159058del"	""	"pathogenic"	""
"0000037949"	"3"	"90"	"8"	"68074049"	"68074050"	"del"	"4.07717E-6"	"00705"	"CSPP1_000013"	"g.68074049_68074050del"	""	"{PMID:Tuz 2014:24360808}"	""	"2527_2528delAT"	""	"Germline"	"yes"	""	"0"	""	""	"g.67161814_67161815del"	""	"pathogenic"	""
"0000037950"	"11"	"90"	"8"	"68102890"	"68102890"	"dup"	"0"	"00705"	"CSPP1_000002"	"g.68102890dup"	""	"{PMID:Tuz 2014:24360808}"	""	"3211_3212insA"	"Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000037951"	"21"	"90"	"8"	"68084791"	"68084791"	"subst"	"0"	"00705"	"CSPP1_000003"	"g.68084791G>A"	""	"{PMID:Tuz 2014:24360808}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.67172556G>A"	""	"pathogenic"	""
"0000037952"	"3"	"90"	"8"	"68071297"	"68071303"	"del"	"0"	"00705"	"CSPP1_000001"	"g.68071297_68071303del"	""	"{PMID:Tuz 2014:24360808}"	""	"2448_2454delAGAAGAA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67159062_67159068del"	""	"pathogenic"	""
"0000037961"	"3"	"90"	"8"	"68070699"	"68070702"	"del"	"0"	"00705"	"CSPP1_000020"	"g.68070699_68070702del"	""	"{PMID:Shaheen 2014:24360803}"	""	"2244_2247delAAGA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67158464_67158467del"	""	"pathogenic"	""
"0000037962"	"3"	"90"	"8"	"68070699"	"68070702"	"del"	"0"	"00705"	"CSPP1_000020"	"g.68070699_68070702del"	""	"{PMID:Shaheen 2014:24360803}"	""	"2244_2247delAAGA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67158464_67158467del"	""	"pathogenic"	""
"0000037963"	"3"	"90"	"8"	"67998297"	"67998298"	"del"	"0"	"00705"	"CSPP1_000021"	"g.67998297_67998298del"	""	"{PMID:Shaheen 2014:24360803}"	""	"363_364delTA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67086062_67086063del"	""	"pathogenic"	""
"0000037964"	"3"	"95"	"8"	"67998297"	"67998298"	"del"	"0"	"00705"	"CSPP1_000021"	"g.67998297_67998298del"	""	"{PMID:Shaheen 2014:24360803}"	""	"363_364delTA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67086062_67086063del"	""	"pathogenic"	""
"0000037965"	"3"	"90"	"8"	"67998297"	"67998298"	"del"	"0"	"00705"	"CSPP1_000021"	"g.67998297_67998298del"	""	"{PMID:Shaheen 2014:24360803}"	""	"363_364delTA"	""	"Germline"	"yes"	""	"0"	""	""	"g.67086062_67086063del"	""	"pathogenic"	""
"0000130059"	"3"	"90"	"8"	"68070699"	"68070702"	"del"	"0"	"01758"	"CSPP1_000020"	"g.68070699_68070702del"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67158464_67158467del"	""	"pathogenic"	"ACMG"
"0000246698"	"0"	"10"	"8"	"68105722"	"68105722"	"subst"	"8.12902E-6"	"02330"	"CSPP1_000045"	"g.68105722A>G"	""	""	""	"CSPP1(NM_001291339.2):c.2304A>G (p.A768=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67193487A>G"	""	"benign"	""
"0000246709"	"0"	"10"	"8"	"68062029"	"68062029"	"subst"	"0.00030844"	"02330"	"CSPP1_000047"	"g.68062029A>G"	""	""	""	"CSPP1(NM_001363131.1):c.1906A>G (p.R636G), CSPP1(NM_024790.6):c.1972A>G (p.R658G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67149794A>G"	""	"benign"	""
"0000246734"	"0"	"10"	"8"	"68092174"	"68092174"	"subst"	"0.00707104"	"02330"	"CSPP1_000043"	"g.68092174A>G"	""	""	""	"CSPP1(NM_001291339.2):c.2170+13A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67179939A>G"	""	"benign"	""
"0000246738"	"0"	"30"	"8"	"68076719"	"68076719"	"subst"	"2.45208E-5"	"02330"	"CSPP1_000048"	"g.68076719A>G"	""	""	""	"CSPP1(NM_001291339.2):c.1754A>G (p.D585G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67164484A>G"	""	"likely benign"	""
"0000246764"	"0"	"50"	"8"	"68015313"	"68015313"	"subst"	"0.00243208"	"02330"	"CSPP1_000023"	"g.68015313A>G"	""	""	""	"CSPP1(NM_001291339.2):c.110A>G (p.H37R), CSPP1(NM_001363131.1):c.884A>G (p.H295R), CSPP1(NM_024790.6):c.992A>G (p.H331R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67103078A>G"	""	"VUS"	""
"0000265029"	"0"	"10"	"8"	"67976622"	"67976622"	"subst"	"0.00105819"	"02330"	"CSPP1_000022"	"g.67976622C>T"	""	""	""	"CSPP1(NM_024790.6):c.-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67064387C>T"	""	"benign"	""
"0000265030"	"0"	"50"	"8"	"68049808"	"68049808"	"subst"	"8.87697E-6"	"02330"	"CSPP1_000027"	"g.68049808C>T"	""	""	""	"CSPP1(NM_001291339.2):c.1048C>T (p.P350S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67137573C>T"	""	"VUS"	""
"0000265031"	"0"	"50"	"8"	"68049843"	"68049843"	"subst"	"3.18752E-5"	"02330"	"CSPP1_000028"	"g.68049843G>A"	""	""	""	"CSPP1(NM_001291339.2):c.1078+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67137608G>A"	""	"VUS"	""
"0000265032"	"0"	"10"	"8"	"68062205"	"68062206"	"del"	"0"	"02330"	"CSPP1_000038"	"g.68062205_68062206del"	""	""	""	"CSPP1(NM_001291339.2):c.1079-4054_1079-4053delTT, CSPP1(NM_024790.6):c.2113+35_2113+36delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67149970_67149971del"	""	"benign"	""
"0000265034"	"0"	"10"	"8"	"68062206"	"68062206"	"del"	"0"	"02330"	"CSPP1_000037"	"g.68062206del"	""	""	""	"CSPP1(NM_001291339.2):c.1079-4053delT, CSPP1(NM_024790.6):c.2113+36delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67149971del"	""	"benign"	""
"0000265037"	"0"	"10"	"8"	"68062202"	"68062206"	"del"	"0"	"02330"	"CSPP1_000033"	"g.68062202_68062206del"	""	""	""	"CSPP1(NM_001291339.2):c.1079-4057_1079-4053delTTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67149967_67149971del"	""	"benign"	""
"0000265038"	"0"	"10"	"8"	"68062203"	"68062206"	"del"	"0"	"02330"	"CSPP1_000032"	"g.68062203_68062206del"	""	""	""	"CSPP1(NM_001291339.2):c.1079-4056_1079-4053delTTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67149968_67149971del"	""	"benign"	""
"0000265039"	"0"	"10"	"8"	"68062204"	"68062206"	"del"	"0"	"02330"	"CSPP1_000031"	"g.68062204_68062206del"	""	""	""	"CSPP1(NM_001291339.2):c.1079-4055_1079-4053delTTT, CSPP1(NM_024790.6):c.2113+34_2113+36delTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67149969_67149971del"	""	"benign"	""
"0000265041"	"0"	"10"	"8"	"68066254"	"68066254"	"subst"	"0"	"02330"	"CSPP1_000039"	"g.68066254T>C"	""	""	""	"CSPP1(NM_001291339.2):c.1079-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67154019T>C"	""	"benign"	""
"0000265042"	"0"	"30"	"8"	"68071218"	"68071222"	"del"	"0"	"02330"	"CSPP1_000040"	"g.68071218_68071222del"	""	""	""	"CSPP1(NM_001291339.1):c.1342-8_1342-4delTTTTA, CSPP1(NM_001291339.2):c.1342-8_1342-4delTTTTA, CSPP1(NM_024790.6):c.2377-8_2377-4delTTTTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67158983_67158987del"	""	"likely benign"	""
"0000265043"	"0"	"30"	"8"	"68074034"	"68074034"	"subst"	"0.00094243"	"02330"	"CSPP1_000041"	"g.68074034T>A"	""	""	""	"CSPP1(NM_001291339.2):c.1489-12T>A, CSPP1(NM_024790.6):c.2524-12T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67161799T>A"	""	"likely benign"	""
"0000265044"	"0"	"10"	"8"	"68102949"	"68102949"	"subst"	"0.000475247"	"02330"	"CSPP1_000044"	"g.68102949C>T"	""	""	""	"CSPP1(NM_001291339.2):c.2235C>T (p.P745=), CSPP1(NM_024790.6):c.3270C>T (p.P1090=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67190714C>T"	""	"benign"	""
"0000265046"	"0"	"30"	"8"	"68031043"	"68031043"	"subst"	"2.44168E-5"	"02330"	"CSPP1_000026"	"g.68031043G>A"	""	""	""	"CSPP1(NM_001291339.2):c.787G>A (p.A263T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67118808G>A"	""	"likely benign"	""
"0000270608"	"0"	"10"	"8"	"68028252"	"68028252"	"subst"	"0.00427316"	"02326"	"CSPP1_000025"	"g.68028252C>G"	""	""	""	"CSPP1(NM_001291339.1):c.494C>G (p.S165C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67116017C>G"	""	"benign"	""
"0000274501"	"0"	"30"	"8"	"68062019"	"68062019"	"subst"	"0.00188626"	"01943"	"CSPP1_000029"	"g.68062019T>C"	""	""	""	"CSPP1(NM_024790.6):c.1962T>C (p.T654=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67149784T>C"	""	"likely benign"	""
"0000274502"	"0"	"30"	"8"	"68092106"	"68092106"	"subst"	"0.00184514"	"01943"	"CSPP1_000042"	"g.68092106T>C"	""	""	""	"CSPP1(NM_001291339.1):c.2115T>C (p.D705=), CSPP1(NM_024790.6):c.3150T>C (p.D1050=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67179871T>C"	""	"likely benign"	""
"0000332168"	"0"	"50"	"8"	"68130344"	"68130344"	"subst"	"0"	"01804"	"ARFGEF1_000001"	"g.68130344A>C"	""	""	""	"ARFGEF1(NM_006421.4):c.4368T>G (p.(Asn1456Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.67218109A>C"	""	"VUS"	""
"0000535245"	"0"	"50"	"8"	"67976686"	"67976686"	"subst"	"4.06928E-6"	"01943"	"COPS5_000001"	"g.67976686C>T"	""	""	""	"CSPP1(NM_024790.6):c.53C>T (p.P18L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67064451C>T"	""	"VUS"	""
"0000535246"	"0"	"10"	"8"	"67986533"	"67986533"	"subst"	"0.000675537"	"02330"	"CSPP1_000049"	"g.67986533T>C"	""	""	""	"CSPP1(NM_024790.6):c.154T>C (p.L52=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67074298T>C"	""	"benign"	""
"0000535247"	"0"	"50"	"8"	"67988721"	"67988721"	"subst"	"0.000887699"	"02330"	"CSPP1_000050"	"g.67988721A>G"	""	""	""	"CSPP1(NM_001363131.1):c.104A>G (p.K35R), CSPP1(NM_001363131.2):c.104A>G (p.K35R), CSPP1(NM_024790.6):c.212A>G (p.K71R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67076486A>G"	""	"VUS"	""
"0000535248"	"0"	"30"	"8"	"68024305"	"68024305"	"subst"	"0"	"01943"	"CSPP1_000051"	"g.68024305T>C"	""	""	""	"CSPP1(NM_001291339.1):c.332+5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67112070T>C"	""	"likely benign"	""
"0000535249"	"0"	"30"	"8"	"68028142"	"68028142"	"subst"	"0"	"01804"	"CSPP1_000052"	"g.68028142A>T"	""	""	""	"CSPP1(NM_024790.6):c.1273-7A>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67115907A>T"	""	"likely benign"	""
"0000535250"	"0"	"90"	"8"	"68030481"	"68030481"	"subst"	"8.17321E-6"	"01943"	"CSPP1_000053"	"g.68030481A>C"	""	""	""	"CSPP1(NM_001291339.1):c.600-2A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67118246A>C"	""	"pathogenic"	""
"0000535252"	"0"	"10"	"8"	"68030615"	"68030615"	"subst"	"0"	"02330"	"CSPP1_000055"	"g.68030615T>C"	""	""	""	"CSPP1(NM_001291339.2):c.721+11T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67118380T>C"	""	"benign"	""
"0000535253"	"0"	"50"	"8"	"68031002"	"68031002"	"subst"	"2.44E-5"	"01943"	"CSPP1_000056"	"g.68031002A>C"	""	""	""	"CSPP1(NM_001291339.1):c.746A>C (p.Q249P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67118767A>C"	""	"VUS"	""
"0000535254"	"0"	"50"	"8"	"68031052"	"68031052"	"subst"	"0.000926198"	"02330"	"CSPP1_000057"	"g.68031052G>A"	""	""	""	"CSPP1(NM_001291339.2):c.796G>A (p.V266I), CSPP1(NM_001363131.1):c.1612G>A (p.V538I), CSPP1(NM_024790.6):c.1678G>A (p.V560I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67118817G>A"	""	"VUS"	""
"0000535255"	"0"	"10"	"8"	"68062019"	"68062019"	"subst"	"0.00188626"	"02330"	"CSPP1_000029"	"g.68062019T>C"	""	""	""	"CSPP1(NM_024790.6):c.1962T>C (p.T654=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67149784T>C"	""	"benign"	""
"0000535256"	"0"	"10"	"8"	"68062186"	"68062187"	"ins"	"0"	"02330"	"CSPP1_000058"	"g.68062186_68062187insCTGTAA"	""	""	""	"CSPP1(NM_001291339.2):c.1079-4073_1079-4072insCTGTAA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67149951_67149952insCTGTAA"	""	"benign"	""
"0000535257"	"0"	"30"	"8"	"68071218"	"68071222"	"del"	"0"	"01943"	"CSPP1_000040"	"g.68071218_68071222del"	""	""	""	"CSPP1(NM_001291339.1):c.1342-8_1342-4delTTTTA, CSPP1(NM_001291339.2):c.1342-8_1342-4delTTTTA, CSPP1(NM_024790.6):c.2377-8_2377-4delTTTTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67158983_67158987del"	""	"likely benign"	""
"0000535259"	"0"	"10"	"8"	"68074097"	"68074097"	"subst"	"0.000414496"	"02330"	"CSPP1_000060"	"g.68074097A>C"	""	""	""	"CSPP1(NM_001291339.2):c.1540A>C (p.S514R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67161862A>C"	""	"benign"	""
"0000535260"	"0"	"30"	"8"	"68084684"	"68084684"	"subst"	"0"	"01943"	"ARFGEF1_000002"	"g.68084684T>C"	""	""	""	"CSPP1(NM_001291339.1):c.1812T>C (p.D604=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67172449T>C"	""	"likely benign"	""
"0000535261"	"0"	"10"	"8"	"68089904"	"68089904"	"subst"	"0.00175027"	"02330"	"ARFGEF1_000003"	"g.68089904A>G"	""	""	""	"CSPP1(NM_001291339.2):c.2060-11A>G, CSPP1(NM_024790.6):c.3095-11A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67177669A>G"	""	"benign"	""
"0000535262"	"0"	"10"	"8"	"68092083"	"68092083"	"subst"	"0.000353413"	"02330"	"ARFGEF1_000004"	"g.68092083A>G"	""	""	""	"CSPP1(NM_001291339.2):c.2107-15A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67179848A>G"	""	"benign"	""
"0000535263"	"0"	"50"	"8"	"68102960"	"68102960"	"subst"	"6.09335E-5"	"02330"	"ARFGEF1_000005"	"g.68102960A>G"	""	""	""	"CSPP1(NM_001291339.2):c.2246A>G (p.E749G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67190725A>G"	""	"VUS"	""
"0000535264"	"0"	"30"	"8"	"68102977"	"68102977"	"subst"	"0.0228737"	"01804"	"ARFGEF1_000006"	"g.68102977T>C"	""	""	""	"CSPP1(NM_024790.6):c.3298T>C (p.(Trp1100Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67190742T>C"	""	"likely benign"	""
"0000535265"	"0"	"30"	"8"	"68107640"	"68107640"	"subst"	"0.00133263"	"01804"	"ARFGEF1_000007"	"g.68107640C>T"	""	""	""	"CSPP1(NM_001291339.1):c.2443C>T (p.P815S), CSPP1(NM_024790.6):c.3478C>T (p.P1160S, p.(Pro1160Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67195405C>T"	""	"likely benign"	""
"0000535266"	"0"	"30"	"8"	"68107653"	"68107653"	"subst"	"0"	"01804"	"ARFGEF1_000008"	"g.68107653T>C"	""	""	""	"CSPP1(NM_024790.6):c.3491T>C (p.(Met1164Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67195418T>C"	""	"likely benign"	""
"0000535267"	"0"	"50"	"8"	"68107785"	"68107785"	"subst"	"0.000182896"	"01943"	"ARFGEF1_000009"	"g.68107785C>G"	""	""	""	"CSPP1(NM_001291339.1):c.2588C>G (p.P863R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67195550C>G"	""	"VUS"	""
"0000535268"	"0"	"30"	"8"	"68107834"	"68107834"	"subst"	"0.000550948"	"02330"	"ARFGEF1_000010"	"g.68107834A>G"	""	""	""	"CSPP1(NM_001291339.2):c.*6A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67195599A>G"	""	"likely benign"	""
"0000611698"	"0"	"30"	"8"	"67986538"	"67986538"	"subst"	"0.000271315"	"01943"	"CSPP1_000061"	"g.67986538C>T"	""	""	""	"CSPP1(NM_024790.6):c.159C>T (p.A53=, p.(Ala53=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67074303C>T"	""	"likely benign"	""
"0000622086"	"0"	"70"	"8"	"67998343"	"67998343"	"subst"	"0"	"01943"	"CSPP1_000062"	"g.67998343C>T"	""	""	""	"CSPP1(NM_001363131.1):c.301C>T (p.Q101*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67086108C>T"	""	"likely pathogenic"	""
"0000622087"	"0"	"70"	"8"	"68024299"	"68024299"	"subst"	"5.35627E-5"	"01943"	"CSPP1_000063"	"g.68024299C>T"	""	""	""	"CSPP1(NM_001363131.1):c.1105C>T (p.R369*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67112064C>T"	""	"likely pathogenic"	""
"0000622088"	"0"	"50"	"8"	"68044286"	"68044286"	"subst"	"0.00069643"	"02330"	"CSPP1_000064"	"g.68044286C>G"	""	""	""	"CSPP1(NM_001363131.2):c.1717C>G (p.Q573E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67132051C>G"	""	"VUS"	""
"0000622089"	"0"	"50"	"8"	"68070754"	"68070754"	"subst"	"1.63729E-5"	"01943"	"CSPP1_000065"	"g.68070754C>T"	""	""	""	"CSPP1(NM_024790.6):c.2299C>T (p.R767W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67158519C>T"	""	"VUS"	""
"0000622090"	"0"	"30"	"8"	"68107747"	"68107747"	"subst"	"1.21948E-5"	"02330"	"ARFGEF1_000011"	"g.68107747G>A"	""	""	""	"CSPP1(NM_001363131.2):c.3519G>A (p.E1173=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67195512G>A"	""	"likely benign"	""
"0000652513"	"1"	"10"	"8"	"68102977"	"68102977"	"subst"	"0.0228737"	"03575"	"ARFGEF1_000006"	"g.68102977T>C"	"205/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"205 heterozygous; {DB:CLININrs1808140}"	"Germline"	""	"rs1808140"	"0"	""	""	"g.67190742T>C"	""	"benign"	""
"0000653302"	"1"	"90"	"8"	"68070699"	"68070700"	"del"	"0"	"03575"	"CSPP1_000006"	"g.68070699_68070700del"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs587777139}"	"Germline"	""	"rs587777139"	"0"	""	""	"g.67158464_67158465del"	""	"pathogenic"	""
"0000656145"	"0"	"50"	"8"	"68076677"	"68076677"	"subst"	"3.25185E-5"	"01943"	"CSPP1_000066"	"g.68076677G>A"	""	""	""	"CSPP1(NM_001363131.1):c.2681G>A (p.R894H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67164442G>A"	""	"VUS"	""
"0000656146"	"0"	"90"	"8"	"68084791"	"68084791"	"subst"	"8.18599E-6"	"02330"	"ARFGEF1_000012"	"g.68084791G>T"	""	""	""	"CSPP1(NM_001363131.2):c.2887+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.67172556G>T"	""	"pathogenic"	""
"0000670019"	"3"	"10"	"8"	"68102977"	"68102977"	"subst"	"0.0228737"	"03575"	"ARFGEF1_000006"	"g.68102977T>C"	"6/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"6 homozygous; {DB:CLININrs1808140}"	"Germline"	""	"rs1808140"	"0"	""	""	"g.67190742T>C"	""	"benign"	""
"0000678424"	"0"	"30"	"8"	"67976641"	"67976641"	"subst"	"0"	"01943"	"COPS5_000002"	"g.67976641T>A"	""	""	""	"CSPP1(NM_024790.6):c.8T>A (p.F3Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000678425"	"0"	"30"	"8"	"68015313"	"68015313"	"subst"	"0.00243208"	"01943"	"CSPP1_000023"	"g.68015313A>G"	""	""	""	"CSPP1(NM_001291339.2):c.110A>G (p.H37R), CSPP1(NM_001363131.1):c.884A>G (p.H295R), CSPP1(NM_024790.6):c.992A>G (p.H331R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000678426"	"0"	"30"	"8"	"68028208"	"68028208"	"subst"	"0"	"01943"	"CSPP1_000067"	"g.68028208T>C"	""	""	""	"CSPP1(NM_024790.6):c.1332T>C (p.P444=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000678427"	"0"	"50"	"8"	"68062102"	"68062102"	"subst"	"0"	"01943"	"CSPP1_000068"	"g.68062102T>C"	""	""	""	"CSPP1(NM_024790.6):c.2045T>C (p.V682A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000678428"	"0"	"30"	"8"	"68074131"	"68074131"	"subst"	"2.84444E-5"	"01943"	"CSPP1_000069"	"g.68074131T>C"	""	""	""	"CSPP1(NM_024790.6):c.2609T>C (p.I870T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000690319"	"0"	"30"	"8"	"68015312"	"68015312"	"subst"	"0.000231835"	"01943"	"CSPP1_000070"	"g.68015312C>T"	""	""	""	"CSPP1(NM_001363131.1):c.883C>T (p.H295Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722076"	"0"	"50"	"8"	"68031034"	"68031034"	"subst"	"0.000113873"	"01943"	"CSPP1_000071"	"g.68031034C>A"	""	""	""	"CSPP1(NM_001363131.1):c.1594C>A (p.H532N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722077"	"0"	"50"	"8"	"68031052"	"68031052"	"subst"	"0.000926198"	"01943"	"CSPP1_000057"	"g.68031052G>A"	""	""	""	"CSPP1(NM_001291339.2):c.796G>A (p.V266I), CSPP1(NM_001363131.1):c.1612G>A (p.V538I), CSPP1(NM_024790.6):c.1678G>A (p.V560I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000722078"	"0"	"30"	"8"	"68062164"	"68062164"	"subst"	"0.00101876"	"01943"	"CSPP1_000072"	"g.68062164A>G"	""	""	""	"CSPP1(NM_024790.6):c.2107A>G (p.S703G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722079"	"0"	"10"	"8"	"68062206"	"68062206"	"del"	"0"	"02326"	"CSPP1_000037"	"g.68062206del"	""	""	""	"CSPP1(NM_001291339.2):c.1079-4053delT, CSPP1(NM_024790.6):c.2113+36delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000722080"	"0"	"30"	"8"	"68102949"	"68102949"	"subst"	"0.000475247"	"01943"	"CSPP1_000044"	"g.68102949C>T"	""	""	""	"CSPP1(NM_001291339.2):c.2235C>T (p.P745=), CSPP1(NM_024790.6):c.3270C>T (p.P1090=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000722081"	"0"	"30"	"8"	"68107640"	"68107640"	"subst"	"0.00133263"	"02326"	"ARFGEF1_000007"	"g.68107640C>T"	""	""	""	"CSPP1(NM_001291339.1):c.2443C>T (p.P815S), CSPP1(NM_024790.6):c.3478C>T (p.P1160S, p.(Pro1160Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000759758"	"11"	"90"	"8"	"68005823"	"68005824"	"del"	"2.03274E-5"	"00000"	"CSPP1_000073"	"g.68005823_68005824del"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67093588_67093589del"	""	"pathogenic"	""
"0000759784"	"21"	"90"	"8"	"68071297"	"68071300"	"del"	"0"	"00000"	"CSPP1_000074"	"g.68071297_68071300del"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.67159062_67159065del"	""	"pathogenic"	""
"0000783464"	"3"	"90"	"8"	"68076638"	"68076638"	"del"	"0"	"00000"	"CSPP1_000005"	"g.68076638del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2708delA"	""	"Germline"	""	""	"0"	""	""	"g.67164403del"	""	"pathogenic"	""
"0000783465"	"1"	"90"	"8"	"68070699"	"68070700"	"del"	"0"	"00000"	"CSPP1_000006"	"g.68070699_68070700del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2244_2245delAA"	""	"Germline"	""	""	"0"	""	""	"g.67158464_67158465del"	""	"pathogenic"	""
"0000783466"	"1"	"90"	"8"	"68070699"	"68070700"	"del"	"0"	"00000"	"CSPP1_000006"	"g.68070699_68070700del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2244_2245delAA"	""	"Germline"	""	""	"0"	""	""	"g.67158464_67158465del"	""	"pathogenic"	""
"0000783467"	"1"	"90"	"8"	"68102891"	"68102891"	"dup"	"0"	"00000"	"CSPP1_000002"	"g.68102891dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.3212dupA"	""	"Germline"	""	""	"0"	""	""	"g.67190656dup"	""	"pathogenic"	""
"0000783468"	"1"	"90"	"8"	"68102891"	"68102891"	"dup"	"0"	"00000"	"CSPP1_000002"	"g.68102891dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.3212dupA"	""	"Germline"	""	""	"0"	""	""	"g.67190656dup"	""	"pathogenic"	""
"0000783469"	"3"	"90"	"8"	"68071297"	"68071303"	"dup"	"0"	"00000"	"CSPP1_000009"	"g.68071297_68071303dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2448_2454dupAGAAGAA"	""	"Germline"	""	""	"0"	""	""	"g.67159062_67159068dup"	""	"pathogenic"	""
"0000783470"	"1"	"90"	"8"	"68005823"	"68005823"	"del"	"0"	"00000"	"CSPP1_000010"	"g.68005823del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.457delA"	""	"Germline"	""	""	"0"	""	""	"g.67093588del"	""	"pathogenic"	""
"0000783471"	"1"	"90"	"8"	"68007675"	"68007675"	"subst"	"5.69416E-5"	"00000"	"CSPP1_000012"	"g.68007675C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.658C>T"	""	"Germline"	""	""	"0"	""	""	"g.67095440C>T"	""	"pathogenic"	""
"0000783472"	"1"	"90"	"8"	"68007675"	"68007675"	"subst"	"5.69416E-5"	"00000"	"CSPP1_000012"	"g.68007675C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.658C>T"	""	"Germline"	""	""	"0"	""	""	"g.67095440C>T"	""	"pathogenic"	""
"0000783473"	"3"	"90"	"8"	"68074049"	"68074050"	"del"	"4.07717E-6"	"00000"	"CSPP1_000013"	"g.68074049_68074050del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2527_2528delAT"	""	"Germline"	""	""	"0"	""	""	"g.67161814_67161815del"	""	"pathogenic"	""
"0000783474"	"1"	"90"	"8"	"68092162"	"68092162"	"subst"	"4.08998E-6"	"00000"	"CSPP1_000014"	"g.68092162G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.3205+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.67179927G>A"	""	"pathogenic"	""
"0000783475"	"1"	"90"	"8"	"68024218"	"68024218"	"subst"	"2.05965E-5"	"00000"	"CSPP1_000018"	"g.68024218C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.1132C>T"	""	"Germline"	""	""	"0"	""	""	"g.67111983C>T"	""	"pathogenic"	""
"0000783476"	"1"	"90"	"8"	"68024218"	"68024218"	"subst"	"2.05965E-5"	"00000"	"CSPP1_000018"	"g.68024218C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.1132C>T"	""	"Germline"	""	""	"0"	""	""	"g.67111983C>T"	""	"pathogenic"	""
"0000783477"	"3"	"90"	"8"	"68074049"	"68074050"	"del"	"4.07717E-6"	"00000"	"CSPP1_000013"	"g.68074049_68074050del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2527_2528delAT"	""	"Germline"	""	""	"0"	""	""	"g.67161814_67161815del"	""	"pathogenic"	""
"0000783478"	"1"	"90"	"8"	"68102891"	"68102891"	"dup"	"0"	"00000"	"CSPP1_000002"	"g.68102891dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.3212dupA"	""	"Germline"	""	""	"0"	""	""	"g.67190656dup"	""	"pathogenic"	""
"0000783479"	"1"	"90"	"8"	"68071297"	"68071303"	"del"	"0"	"00000"	"CSPP1_000001"	"g.68071297_68071303del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2448_2454delAGAAGAA"	""	"Germline"	""	""	"0"	""	""	"g.67159062_67159068del"	""	"pathogenic"	""
"0000783480"	"1"	"90"	"8"	"68031057"	"68031057"	"subst"	"0"	"00000"	"CSPP1_000075"	"g.68031057G>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.1682+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.67118822G>T"	""	"pathogenic"	""
"0000783689"	"2"	"90"	"8"	"68070735"	"68070735"	"del"	"0"	"00000"	"CSPP1_000007"	"g.68070735del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2280delA"	""	"Germline"	""	""	"0"	""	""	"g.67158500del"	""	"pathogenic"	""
"0000783690"	"2"	"90"	"8"	"68070735"	"68070735"	"del"	"0"	"00000"	"CSPP1_000007"	"g.68070735del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2280delA"	""	"Germline"	""	""	"0"	""	""	"g.67158500del"	""	"pathogenic"	""
"0000783691"	"2"	"90"	"8"	"68084791"	"68084791"	"subst"	"0"	"00000"	"CSPP1_000003"	"g.68084791G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2953+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.67172556G>A"	""	"pathogenic"	""
"0000783692"	"2"	"90"	"8"	"68084791"	"68084791"	"subst"	"0"	"00000"	"CSPP1_000003"	"g.68084791G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2953+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.67172556G>A"	""	"pathogenic"	""
"0000783693"	"2"	"90"	"8"	"68070715"	"68070715"	"subst"	"1.6373E-5"	"00000"	"CSPP1_000011"	"g.68070715C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2260C>T"	""	"Germline"	""	""	"0"	""	""	"g.67158480C>T"	""	"pathogenic"	""
"0000783694"	"2"	"90"	"8"	"68074049"	"68074050"	"del"	"4.07717E-6"	"00000"	"CSPP1_000013"	"g.68074049_68074050del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2527_2528delAT"	""	"Germline"	""	""	"0"	""	""	"g.67161814_67161815del"	""	"pathogenic"	""
"0000783695"	"2"	"90"	"8"	"68074049"	"68074050"	"del"	"4.07717E-6"	"00000"	"CSPP1_000013"	"g.68074049_68074050del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2527_2528delAT"	""	"Germline"	""	""	"0"	""	""	"g.67161814_67161815del"	""	"pathogenic"	""
"0000783696"	"2"	"90"	"8"	"68007968"	"68007968"	"subst"	"0"	"00000"	"CSPP1_000015"	"g.68007968G>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.950+1G>C"	""	"Germline"	""	""	"0"	""	""	"g.67095733G>C"	""	"pathogenic"	""
"0000783697"	"2"	"90"	"8"	"68071290"	"68071293"	"del"	"0"	"00000"	"CSPP1_000019"	"g.68071290_68071293del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2433_2436delAGAA"	""	"Germline"	""	""	"0"	""	""	"g.67159055_67159058del"	""	"pathogenic"	""
"0000783698"	"2"	"90"	"8"	"68071290"	"68071293"	"del"	"0"	"00000"	"CSPP1_000019"	"g.68071290_68071293del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2433_2436delAGAA"	""	"Germline"	""	""	"0"	""	""	"g.67159055_67159058del"	""	"pathogenic"	""
"0000783699"	"2"	"90"	"8"	"68084791"	"68084791"	"subst"	"0"	"00000"	"CSPP1_000003"	"g.68084791G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2953+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.67172556G>A"	""	"pathogenic"	""
"0000783700"	"2"	"90"	"8"	"68071297"	"68071303"	"del"	"0"	"00000"	"CSPP1_000001"	"g.68071297_68071303del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.2448_2454delAGAAGAA"	""	"Germline"	""	""	"0"	""	""	"g.67159062_67159068del"	""	"pathogenic"	""
"0000783701"	"2"	"90"	"8"	"67998297"	"67998298"	"del"	"0"	"00000"	"CSPP1_000021"	"g.67998297_67998298del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_024790.6:c.362_363delAT"	""	"Germline"	""	""	"0"	""	""	"g.67086062_67086063del"	""	"pathogenic"	""
"0000788402"	"0"	"50"	"8"	"68071254"	"68071254"	"subst"	"0.000237524"	"00000"	"CSPP1_000077"	"g.68071254G>A"	""	"{PMID:Katagiri 2014:25268133}"	""	"G2405A"	""	"Germline"	""	""	"0"	""	""	"g.67159019G>A"	""	"VUS"	""
"0000788406"	"0"	"50"	"8"	"68030542"	"68030542"	"subst"	"0.000548393"	"00000"	"CSPP1_000076"	"g.68030542C>T"	""	"{PMID:Katagiri 2014:25268133}"	""	"C1541T"	""	"Germline"	""	"rs200535417"	"0"	""	""	"g.67118307C>T"	""	"VUS"	""
"0000788479"	"0"	"50"	"8"	"68071254"	"68071254"	"subst"	"0.000237524"	"00000"	"CSPP1_000077"	"g.68071254G>A"	""	"{PMID:Katagiri 2014:25268133}"	""	"G2405A"	""	"Germline"	""	""	"0"	""	""	"g.67159019G>A"	""	"VUS"	""
"0000791795"	"0"	"70"	"8"	"68070699"	"68070700"	"del"	"0"	"00000"	"CSPP1_000006"	"g.68070699_68070700del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.2244_2245del; p.Q750Gfs*30"	""	"Germline"	"?"	""	"0"	""	""	"g.67158464_67158465del"	""	"likely pathogenic"	""
"0000791796"	"0"	"70"	"8"	"68049713"	"68049723"	"del"	"0"	"00000"	"CSPP1_000078"	"g.68049713_68049723del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1835_1845del; p.R612Tfs*2"	""	"Germline"	"?"	""	"0"	""	""	"g.67137478_67137488del"	""	"likely pathogenic"	""
"0000791874"	"0"	"70"	"8"	"68070735"	"68070735"	"del"	"0"	"00000"	"CSPP1_000007"	"g.68070735del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.2280del; p.Q761Kfs*35"	""	"Germline"	"?"	""	"0"	""	""	"g.67158500del"	""	"likely pathogenic"	""
"0000791875"	"0"	"70"	"8"	"68084650"	"68084650"	"subst"	"4.0837E-6"	"00000"	"CSPP1_000079"	"g.68084650G>C"	""	"{PMID:Brooks 2018:30055837}"	""	"c.2814-1G>C"	""	"Germline"	"?"	""	"0"	""	""	"g.67172415G>C"	""	"likely pathogenic"	""
"0000803727"	"0"	"50"	"8"	"68007859"	"68007859"	"subst"	"0.000497257"	"01943"	"CSPP1_000080"	"g.68007859G>A"	""	""	""	"CSPP1(NM_001363131.1):c.734G>A (p.R245Q), CSPP1(NM_024790.6):c.842G>A (p.R281Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000803728"	"0"	"30"	"8"	"68015313"	"68015313"	"subst"	"0.00243208"	"02326"	"CSPP1_000023"	"g.68015313A>G"	""	""	""	"CSPP1(NM_001291339.2):c.110A>G (p.H37R), CSPP1(NM_001363131.1):c.884A>G (p.H295R), CSPP1(NM_024790.6):c.992A>G (p.H331R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803729"	"0"	"30"	"8"	"68026070"	"68026070"	"subst"	"2.4974E-5"	"01943"	"CSPP1_000081"	"g.68026070G>A"	""	""	""	"CSPP1(NM_024790.6):c.1245G>A (p.A415=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803730"	"0"	"30"	"8"	"68028178"	"68028178"	"subst"	"0"	"01943"	"CSPP1_000082"	"g.68028178A>C"	""	""	""	"CSPP1(NM_024790.6):c.1302A>C (p.A434=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803731"	"0"	"30"	"8"	"68030969"	"68030969"	"subst"	"0"	"01943"	"CSPP1_000083"	"g.68030969T>C"	""	""	""	"CSPP1(NM_024790.6):c.1604-9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000803732"	"0"	"70"	"8"	"68066327"	"68066327"	"subst"	"4.07548E-6"	"01943"	"CSPP1_000084"	"g.68066327C>T"	""	""	""	"CSPP1(NM_001363131.1):c.2116C>T (p.Q706*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000803733"	"0"	"70"	"8"	"68066372"	"68066372"	"subst"	"0"	"01943"	"CSPP1_000085"	"g.68066372G>T"	""	""	""	"CSPP1(NM_001363131.1):c.2160+1G>T, CSPP1(NM_024790.6):c.2226+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000803734"	"0"	"90"	"8"	"68071355"	"68071358"	"del"	"0"	"01943"	"CSPP1_000086"	"g.68071355_68071358del"	""	""	""	"CSPP1(NM_001363131.1):c.2440_2443delATTG (p.I814Gfs*7)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000803735"	"0"	"30"	"8"	"68107640"	"68107640"	"subst"	"0.00133263"	"01943"	"ARFGEF1_000007"	"g.68107640C>T"	""	""	""	"CSPP1(NM_001291339.1):c.2443C>T (p.P815S), CSPP1(NM_024790.6):c.3478C>T (p.P1160S, p.(Pro1160Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000818301"	"0"	"90"	"8"	"68070699"	"68070700"	"del"	"0"	"00000"	"CSPP1_000006"	"g.68070699_68070700del"	""	"{PMID:Summers 2017:28497568}"	""	"c.2244_2245del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818302"	"0"	"90"	"8"	"68070735"	"68070735"	"del"	"0"	"00000"	"CSPP1_000007"	"g.68070735del"	""	"{PMID:Summers 2017:28497568}"	""	"c.2280delA"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000836754"	"21"	"30"	"8"	"68005905"	"68005905"	"subst"	"0.00273873"	"00006"	"CSPP1_000087"	"g.68005905A>G"	""	"{PMID:Cebeci 2020:31821448}"	""	""	"effect on splicing predicted from mini-gene splicing assay"	"Germline"	""	"rs138567800"	"0"	""	""	""	""	"likely benign"	""
"0000851986"	"0"	"30"	"8"	"67988721"	"67988721"	"subst"	"0.000887699"	"01943"	"CSPP1_000050"	"g.67988721A>G"	""	""	""	"CSPP1(NM_001363131.1):c.104A>G (p.K35R), CSPP1(NM_001363131.2):c.104A>G (p.K35R), CSPP1(NM_024790.6):c.212A>G (p.K71R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000851987"	"0"	"50"	"8"	"68062029"	"68062029"	"subst"	"0.00030844"	"01943"	"CSPP1_000047"	"g.68062029A>G"	""	""	""	"CSPP1(NM_001363131.1):c.1906A>G (p.R636G), CSPP1(NM_024790.6):c.1972A>G (p.R658G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000851988"	"0"	"50"	"8"	"68076666"	"68076666"	"subst"	"0.000101652"	"01943"	"CSPP1_000088"	"g.68076666A>C"	""	""	""	"CSPP1(NM_001382391.1):c.2751A>C (p.(Arg917Ser)), CSPP1(NM_024790.6):c.2736A>C (p.R912S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000851989"	"0"	"30"	"8"	"68092106"	"68092106"	"subst"	"0.00184514"	"02326"	"CSPP1_000042"	"g.68092106T>C"	""	""	""	"CSPP1(NM_001291339.1):c.2115T>C (p.D705=), CSPP1(NM_024790.6):c.3150T>C (p.D1050=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000861278"	"0"	"10"	"8"	"68062205"	"68062206"	"del"	"0"	"02326"	"CSPP1_000038"	"g.68062205_68062206del"	""	""	""	"CSPP1(NM_001291339.2):c.1079-4054_1079-4053delTT, CSPP1(NM_024790.6):c.2113+35_2113+36delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000861279"	"0"	"50"	"8"	"68070699"	"68070700"	"del"	"0"	"01943"	"CSPP1_000006"	"g.68070699_68070700del"	""	""	""	"CSPP1(NM_024790.6):c.2244_2245delAA (p.E750Gfs*30)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000861280"	"0"	"30"	"8"	"68089943"	"68089943"	"subst"	"0.00362122"	"02326"	"ARFGEF1_000013"	"g.68089943A>G"	""	""	""	"CSPP1(NM_001382391.1):c.3138A>G (p.(Lys1046=)), CSPP1(NM_024790.6):c.3123A>G (p.K1041=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888435"	"0"	"90"	"8"	"67986530"	"67986530"	"subst"	"4.50296E-5"	"02326"	"CSPP1_000089"	"g.67986530A>T"	""	""	""	"CSPP1(NM_024790.6):c.151A>T (p.R51*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000888436"	"0"	"30"	"8"	"68062019"	"68062019"	"subst"	"0.00188626"	"02326"	"CSPP1_000029"	"g.68062019T>C"	""	""	""	"CSPP1(NM_024790.6):c.1962T>C (p.T654=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888437"	"0"	"10"	"8"	"68062204"	"68062206"	"del"	"0"	"02326"	"CSPP1_000031"	"g.68062204_68062206del"	""	""	""	"CSPP1(NM_001291339.2):c.1079-4055_1079-4053delTTT, CSPP1(NM_024790.6):c.2113+34_2113+36delTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000888438"	"0"	"30"	"8"	"68076699"	"68076699"	"subst"	"4.47344E-5"	"02330"	"CSPP1_000090"	"g.68076699A>G"	""	""	""	"CSPP1(NM_001363131.2):c.2703A>G (p.Q901=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000888439"	"0"	"30"	"8"	"68089904"	"68089904"	"subst"	"0.00175027"	"02326"	"ARFGEF1_000003"	"g.68089904A>G"	""	""	""	"CSPP1(NM_001291339.2):c.2060-11A>G, CSPP1(NM_024790.6):c.3095-11A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000905933"	"0"	"90"	"8"	"67986546"	"67986547"	"del"	"0"	"00000"	"CSPP1_000091"	"g.67986546_67986547del"	""	"{PMID:Zhu 2022:35456422}"	""	"CSPP1 c.167_168del, p.(Lys56Serfs*6)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.67074311_67074312del"	""	"pathogenic"	"ACMG"
"0000912981"	"0"	"30"	"8"	"67988704"	"67988704"	"subst"	"0.000755626"	"02330"	"CSPP1_000092"	"g.67988704A>G"	""	""	""	"CSPP1(NM_001382391.1):c.100-13A>G, CSPP1(NM_024790.6):c.208-13A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912982"	"0"	"30"	"8"	"67988704"	"67988704"	"subst"	"0.000755626"	"02326"	"CSPP1_000092"	"g.67988704A>G"	""	""	""	"CSPP1(NM_001382391.1):c.100-13A>G, CSPP1(NM_024790.6):c.208-13A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912983"	"0"	"30"	"8"	"68007513"	"68007513"	"subst"	"0.00090185"	"02326"	"CSPP1_000093"	"g.68007513T>G"	""	""	""	"CSPP1(NM_024790.6):c.511-15T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912984"	"0"	"30"	"8"	"68076039"	"68076039"	"subst"	"5.3135E-5"	"02326"	"CSPP1_000094"	"g.68076039G>A"	""	""	""	"CSPP1(NM_024790.6):c.2695+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912985"	"0"	"50"	"8"	"68152468"	"68152468"	"subst"	"0"	"02327"	"ARFGEF1_000014"	"g.68152468T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000929473"	"0"	"50"	"8"	"68111234"	"68111234"	"subst"	"0"	"02327"	"ARFGEF1_000015"	"g.68111234G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949112"	"0"	"30"	"8"	"67986538"	"67986538"	"subst"	"0.000271315"	"01804"	"CSPP1_000061"	"g.67986538C>T"	""	""	""	"CSPP1(NM_024790.6):c.159C>T (p.A53=, p.(Ala53=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949113"	"0"	"30"	"8"	"68071358"	"68071358"	"subst"	"3.49409E-5"	"01804"	"CSPP1_000095"	"g.68071358G>A"	""	""	""	"CSPP1(NM_001291339.1):c.1474G>A (p.(Gly492Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000949114"	"0"	"50"	"8"	"68131676"	"68131676"	"subst"	"0"	"02325"	"ARFGEF1_000016"	"g.68131676T>C"	""	""	""	"ARFGEF1(NM_006421.5):c.4328A>G (p.Q1443R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000949115"	"0"	"50"	"8"	"68214696"	"68214696"	"subst"	"3.64973E-5"	"02325"	"ARFGEF1_000017"	"g.68214696T>A"	""	""	""	"ARFGEF1(NM_006421.5):c.130A>T (p.I44L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978264"	"0"	"70"	"8"	"67986546"	"67986547"	"del"	"0"	"01804"	"CSPP1_000091"	"g.67986546_67986547del"	""	""	""	"CSPP1(NM_001382391.1):c.59_60del (p.(Lys20SerfsTer6))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000978265"	"0"	"50"	"8"	"68026573"	"68026573"	"subst"	"0"	"01804"	"CSPP1_000096"	"g.68026573T>C"	""	""	""	"CSPP1(NM_001382391.1):c.1255T>C (p.(Leu419=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000978266"	"0"	"30"	"8"	"68030501"	"68030501"	"subst"	"0"	"02330"	"CSPP1_000097"	"g.68030501A>G"	""	""	""	"CSPP1(NM_001382391.1):c.1515A>G (p.P505=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978267"	"0"	"30"	"8"	"68071218"	"68071222"	"del"	"0"	"02326"	"CSPP1_000040"	"g.68071218_68071222del"	""	""	""	"CSPP1(NM_001291339.1):c.1342-8_1342-4delTTTTA, CSPP1(NM_001291339.2):c.1342-8_1342-4delTTTTA, CSPP1(NM_024790.6):c.2377-8_2377-4delTTTTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978268"	"0"	"30"	"8"	"68074034"	"68074034"	"subst"	"0.00094243"	"02326"	"CSPP1_000041"	"g.68074034T>A"	""	""	""	"CSPP1(NM_001291339.2):c.1489-12T>A, CSPP1(NM_024790.6):c.2524-12T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978269"	"0"	"30"	"8"	"68089943"	"68089943"	"subst"	"0.00362122"	"01804"	"ARFGEF1_000013"	"g.68089943A>G"	""	""	""	"CSPP1(NM_001382391.1):c.3138A>G (p.(Lys1046=)), CSPP1(NM_024790.6):c.3123A>G (p.K1041=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978270"	"0"	"30"	"8"	"68107597"	"68107597"	"subst"	"0.000187031"	"02330"	"ARFGEF1_000018"	"g.68107597G>T"	""	""	""	"CSPP1(NM_001382391.1):c.3470-20G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978271"	"0"	"30"	"8"	"68138418"	"68138418"	"subst"	"5.92455E-5"	"01804"	"ARFGEF1_000019"	"g.68138418G>A"	""	""	""	"ARFGEF1(NM_006421.5):c.3917C>T (p.(Thr1306Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000978272"	"0"	"50"	"8"	"68140356"	"68140356"	"subst"	"4.11753E-6"	"01804"	"ARFGEF1_000020"	"g.68140356G>A"	""	""	""	"ARFGEF1(NM_006421.5):c.3433C>T (p.(Arg1145Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997303"	"0"	"50"	"8"	"68123746"	"68123748"	"del"	"0"	"01804"	"ARFGEF1_000021"	"g.68123746_68123748del"	""	""	""	"ARFGEF1(NM_006421.4):c.4793_4795delAAG (p.(Glu1598del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997304"	"0"	"50"	"8"	"68188211"	"68188211"	"subst"	"8.14372E-6"	"01804"	"ARFGEF1_000022"	"g.68188211T>C"	""	""	""	"ARFGEF1(NM_006421.4):c.1337A>G (p.(Lys446Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000997305"	"0"	"50"	"8"	"68204278"	"68204278"	"subst"	"0"	"02325"	"ARFGEF1_000023"	"g.68204278C>A"	""	""	""	"ARFGEF1(NM_006421.5):c.720G>T (p.E240D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014462"	"0"	"50"	"8"	"68113802"	"68113804"	"del"	"0"	"02325"	"ARFGEF1_000024"	"g.68113802_68113804del"	""	""	""	"ARFGEF1(NM_006421.5):c.5167_5169delGAG (p.E1723del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037029"	"0"	"50"	"8"	"67998304"	"67998304"	"subst"	"4.06471E-6"	"01804"	"CSPP1_000098"	"g.67998304A>G"	""	""	""	"CSPP1(NM_001382391.1):c.262A>G (p.(Lys88Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037030"	"0"	"30"	"8"	"68030612"	"68030612"	"subst"	"8.13411E-6"	"01804"	"CSPP1_000099"	"g.68030612A>G"	""	""	""	"CSPP1(NM_001382391.1):c.1618+8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037031"	"0"	"30"	"8"	"68066374"	"68066374"	"subst"	"0"	"01804"	"CSPP1_000100"	"g.68066374G>A"	""	""	""	"CSPP1(NM_001382391.1):c.2241+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037032"	"0"	"50"	"8"	"68071243"	"68071245"	"del"	"0"	"01804"	"CSPP1_000101"	"g.68071243_68071245del"	""	""	""	"CSPP1(NM_001382391.1):c.2409_2411del (p.(Glu804del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037033"	"0"	"50"	"8"	"68076666"	"68076666"	"subst"	"0.000101652"	"01804"	"CSPP1_000088"	"g.68076666A>C"	""	""	""	"CSPP1(NM_001382391.1):c.2751A>C (p.(Arg917Ser)), CSPP1(NM_024790.6):c.2736A>C (p.R912S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001037034"	"0"	"30"	"8"	"68115482"	"68115482"	"subst"	"8.96262E-5"	"01804"	"ARFGEF1_000025"	"g.68115482T>C"	""	""	""	"ARFGEF1(NM_006421.5):c.4964A>G (p.(Asp1655Gly), p.D1655G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037035"	"0"	"30"	"8"	"68115482"	"68115482"	"subst"	"8.96262E-5"	"02325"	"ARFGEF1_000025"	"g.68115482T>C"	""	""	""	"ARFGEF1(NM_006421.5):c.4964A>G (p.(Asp1655Gly), p.D1655G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001037036"	"0"	"30"	"8"	"68214710"	"68214710"	"subst"	"3.17612E-5"	"01804"	"ARFGEF1_000026"	"g.68214710A>G"	""	""	""	"ARFGEF1(NM_006421.5):c.125-9T>C"	"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 CSPP1
## Count = 196
"{{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}}"
"0000037762"	"00005773"	"90"	"2320"	"0"	"2320"	"0"	"c.2320C>T"	"r.(?)"	"p.(Arg774*)"	"18"
"0000037900"	"00005773"	"90"	"2708"	"0"	"2708"	"0"	"c.2708del"	"r.(?)"	"p.(Asn903Metfs*2)"	"22"
"0000037923"	"00005773"	"90"	"2244"	"0"	"2245"	"0"	"c.2244_2245del"	"r.(?)"	"p.(Glu750Glyfs*30)"	"18"
"0000037924"	"00005773"	"90"	"2280"	"0"	"2280"	"0"	"c.2280del"	"r.(?)"	"p.(Glu761Lysfs*35)"	"18"
"0000037925"	"00005773"	"90"	"2244"	"0"	"2245"	"0"	"c.2244_2245del"	"r.(?)"	"p.(Glu750Glyfs*30)"	"18"
"0000037926"	"00005773"	"90"	"2280"	"0"	"2280"	"0"	"c.2280del"	"r.(?)"	"p.(Glu761Lysfs*35)"	"18"
"0000037927"	"00005773"	"90"	"3212"	"0"	"3212"	"0"	"c.3212dup"	"r.(?)"	"p.(Tyr1071*)"	"27"
"0000037928"	"00005773"	"70"	"2953"	"1"	"2953"	"1"	"c.2953+1G>A"	"r.spl"	"p.?"	"23i"
"0000037929"	"00005773"	"90"	"3212"	"0"	"3212"	"0"	"c.3212dup"	"r.(?)"	"p.(Tyr1071*)"	"27"
"0000037930"	"00005773"	"70"	"2953"	"1"	"2953"	"1"	"c.2953+1G>A"	"r.spl"	"p.?"	"23i"
"0000037931"	"00005773"	"90"	"2448"	"0"	"2454"	"0"	"c.2448_2454dup"	"r.(?)"	"p.(Glu819Argfs*7)"	"19"
"0000037936"	"00005773"	"90"	"457"	"0"	"457"	"0"	"c.457del"	"r.(?)"	"p.(Arg153Glyfs*35)"	"5"
"0000037937"	"00005773"	"90"	"2260"	"0"	"2260"	"0"	"c.2260C>T"	"r.(?)"	"p.(Arg754*)"	"18"
"0000037938"	"00005773"	"90"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"6"
"0000037939"	"00005773"	"90"	"2527"	"0"	"2528"	"0"	"c.2527_2528del"	"r.(?)"	"p.(Met843Glufs*25)"	"20"
"0000037940"	"00005773"	"90"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	"6"
"0000037941"	"00005773"	"90"	"2527"	"0"	"2528"	"0"	"c.2527_2528del"	"r.(?)"	"p.(Met843Glufs*25)"	"20"
"0000037942"	"00005773"	"90"	"2527"	"0"	"2528"	"0"	"c.2527_2528del"	"r.(?)"	"p.(Met843Glufs*25)"	"20"
"0000037943"	"00005773"	"70"	"3205"	"1"	"3205"	"1"	"c.3205+1G>A"	"r.spl"	"p.?"	"26i"
"0000037944"	"00005773"	"70"	"950"	"1"	"950"	"1"	"c.950+1G>C"	"r.spl"	"p.?"	"6i"
"0000037945"	"00005773"	"90"	"652"	"0"	"652"	"0"	"c.652C>T"	"r.(?)"	"p.(Gln218*)"	"6"
"0000037946"	"00005773"	"90"	"1214"	"0"	"1214"	"0"	"c.1214G>A"	"r.1214_1215ins1214+1_1214+10"	"p.Arg405Glnfs*2"	"9"
"0000037947"	"00005773"	"90"	"1132"	"0"	"1132"	"0"	"c.1132C>T"	"r.(?)"	"p.(Arg378*)"	"9"
"0000037948"	"00005773"	"90"	"2441"	"0"	"2444"	"0"	"c.2441_2444del"	"r.(?)"	"p.(Lys814Argfs*21)"	"19"
"0000037949"	"00005773"	"90"	"2527"	"0"	"2528"	"0"	"c.2527_2528del"	"r.(?)"	"p.(Met843Glufs*25)"	"20"
"0000037950"	"00005773"	"95"	"3212"	"0"	"3212"	"0"	"c.3212dup"	"r.(?)"	"p.(Tyr1071*)"	"27"
"0000037951"	"00005773"	"90"	"2953"	"1"	"2953"	"1"	"c.2953+1G>A"	"r.spl?"	"p.?"	"23i"
"0000037952"	"00005773"	"90"	"2448"	"0"	"2454"	"0"	"c.2448_2454del"	"r.(?)"	"p.(Glu817Lysfs*17)"	"19"
"0000037961"	"00005773"	"90"	"2244"	"0"	"2247"	"0"	"c.2244_2247del"	"r.(?)"	"p.(Glu750Lysfs*7)"	"18"
"0000037962"	"00005773"	"90"	"2244"	"0"	"2247"	"0"	"c.2244_2247del"	"r.(?)"	"p.(Glu750Lysfs*7)"	"18"
"0000037963"	"00005773"	"90"	"363"	"0"	"364"	"0"	"c.363_364del"	"r.(?)"	"p.(His121Glnfs22)"	"4"
"0000037964"	"00005773"	"90"	"363"	"0"	"364"	"0"	"c.363_364del"	"r.(?)"	"p.(His121Glnfs22)"	"4"
"0000037965"	"00005773"	"90"	"363"	"0"	"364"	"0"	"c.363_364del"	"r.(?)"	"p.(His121Glnfs22)"	"4"
"0000130059"	"00005773"	"90"	"2244"	"0"	"2247"	"0"	"c.2244_2247del"	"r.(?)"	"p.(Glu750Lysfs*7)"	""
"0000246698"	"00005773"	"10"	"3339"	"0"	"3339"	"0"	"c.3339A>G"	"r.(?)"	"p.(Ala1113=)"	""
"0000246709"	"00005773"	"10"	"1972"	"0"	"1972"	"0"	"c.1972A>G"	"r.(?)"	"p.(Arg658Gly)"	""
"0000246734"	"00005773"	"10"	"3205"	"13"	"3205"	"13"	"c.3205+13A>G"	"r.(=)"	"p.(=)"	""
"0000246738"	"00005773"	"30"	"2789"	"0"	"2789"	"0"	"c.2789A>G"	"r.(?)"	"p.(Asp930Gly)"	""
"0000246764"	"00005773"	"50"	"992"	"0"	"992"	"0"	"c.992A>G"	"r.(?)"	"p.(His331Arg)"	""
"0000265029"	"00005773"	"10"	"-12"	"0"	"-12"	"0"	"c.-12C>T"	"r.(?)"	"p.(=)"	""
"0000265030"	"00005773"	"50"	"1930"	"0"	"1930"	"0"	"c.1930C>T"	"r.(?)"	"p.(Pro644Ser)"	""
"0000265031"	"00005773"	"50"	"1960"	"5"	"1960"	"5"	"c.1960+5G>A"	"r.spl?"	"p.?"	""
"0000265032"	"00005773"	"10"	"2113"	"35"	"2113"	"36"	"c.2113+35_2113+36del"	"r.(=)"	"p.(=)"	""
"0000265034"	"00005773"	"10"	"2113"	"36"	"2113"	"36"	"c.2113+36del"	"r.(=)"	"p.(=)"	""
"0000265037"	"00005773"	"10"	"2113"	"32"	"2113"	"36"	"c.2113+32_2113+36del"	"r.(=)"	"p.(=)"	""
"0000265038"	"00005773"	"10"	"2113"	"33"	"2113"	"36"	"c.2113+33_2113+36del"	"r.(=)"	"p.(=)"	""
"0000265039"	"00005773"	"10"	"2113"	"34"	"2113"	"36"	"c.2113+34_2113+36del"	"r.(=)"	"p.(=)"	""
"0000265041"	"00005773"	"10"	"2114"	"-5"	"2114"	"-5"	"c.2114-5T>C"	"r.spl?"	"p.?"	""
"0000265042"	"00005773"	"30"	"2377"	"-8"	"2377"	"-4"	"c.2377-8_2377-4del"	"r.spl?"	"p.?"	""
"0000265043"	"00005773"	"30"	"2524"	"-12"	"2524"	"-12"	"c.2524-12T>A"	"r.(=)"	"p.(=)"	""
"0000265044"	"00005773"	"10"	"3270"	"0"	"3270"	"0"	"c.3270C>T"	"r.(?)"	"p.(Pro1090=)"	""
"0000265046"	"00005773"	"30"	"1669"	"0"	"1669"	"0"	"c.1669G>A"	"r.(?)"	"p.(Ala557Thr)"	""
"0000270608"	"00005773"	"10"	"1376"	"0"	"1376"	"0"	"c.1376C>G"	"r.(?)"	"p.(Ser459Cys)"	""
"0000274501"	"00005773"	"30"	"1962"	"0"	"1962"	"0"	"c.1962T>C"	"r.(?)"	"p.(Thr654=)"	""
"0000274502"	"00005773"	"30"	"3150"	"0"	"3150"	"0"	"c.3150T>C"	"r.(?)"	"p.(Asp1050=)"	""
"0000332168"	"00005773"	"50"	"26182"	"0"	"26182"	"0"	"c.*22516A>C"	"r.(=)"	"p.(=)"	""
"0000535245"	"00005773"	"50"	"53"	"0"	"53"	"0"	"c.53C>T"	"r.(?)"	"p.(Pro18Leu)"	""
"0000535246"	"00005773"	"10"	"154"	"0"	"154"	"0"	"c.154T>C"	"r.(?)"	"p.(Leu52=)"	""
"0000535247"	"00005773"	"50"	"212"	"0"	"212"	"0"	"c.212A>G"	"r.(?)"	"p.(Lys71Arg)"	""
"0000535248"	"00005773"	"30"	"1214"	"5"	"1214"	"5"	"c.1214+5T>C"	"r.spl?"	"p.?"	""
"0000535249"	"00005773"	"30"	"1273"	"-7"	"1273"	"-7"	"c.1273-7A>T"	"r.(=)"	"p.(=)"	""
"0000535250"	"00005773"	"90"	"1482"	"-2"	"1482"	"-2"	"c.1482-2A>C"	"r.spl?"	"p.?"	""
"0000535252"	"00005773"	"10"	"1603"	"11"	"1603"	"11"	"c.1603+11T>C"	"r.(=)"	"p.(=)"	""
"0000535253"	"00005773"	"50"	"1628"	"0"	"1628"	"0"	"c.1628A>C"	"r.(?)"	"p.(Gln543Pro)"	""
"0000535254"	"00005773"	"50"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Val560Ile)"	""
"0000535255"	"00005773"	"10"	"1962"	"0"	"1962"	"0"	"c.1962T>C"	"r.(?)"	"p.(Thr654=)"	""
"0000535256"	"00005773"	"10"	"2113"	"16"	"2113"	"17"	"c.2113+16_2113+17insCTGTAA"	"r.(=)"	"p.(=)"	""
"0000535257"	"00005773"	"30"	"2377"	"-8"	"2377"	"-4"	"c.2377-8_2377-4del"	"r.spl?"	"p.?"	""
"0000535259"	"00005773"	"10"	"2575"	"0"	"2575"	"0"	"c.2575A>C"	"r.(?)"	"p.(Ser859Arg)"	""
"0000535260"	"00005773"	"30"	"2847"	"0"	"2847"	"0"	"c.2847T>C"	"r.(?)"	"p.(Asp949=)"	""
"0000535261"	"00005773"	"10"	"3095"	"-11"	"3095"	"-11"	"c.3095-11A>G"	"r.(=)"	"p.(=)"	""
"0000535262"	"00005773"	"10"	"3142"	"-15"	"3142"	"-15"	"c.3142-15A>G"	"r.(=)"	"p.(=)"	""
"0000535263"	"00005773"	"50"	"3281"	"0"	"3281"	"0"	"c.3281A>G"	"r.(?)"	"p.(Glu1094Gly)"	""
"0000535264"	"00005773"	"30"	"3298"	"0"	"3298"	"0"	"c.3298T>C"	"r.(?)"	"p.(Trp1100Arg)"	""
"0000535265"	"00005773"	"30"	"3478"	"0"	"3478"	"0"	"c.3478C>T"	"r.(?)"	"p.(Pro1160Ser)"	""
"0000535266"	"00005773"	"30"	"3491"	"0"	"3491"	"0"	"c.3491T>C"	"r.(?)"	"p.(Met1164Thr)"	""
"0000535267"	"00005773"	"50"	"3623"	"0"	"3623"	"0"	"c.3623C>G"	"r.(?)"	"p.(Pro1208Arg)"	""
"0000535268"	"00005773"	"30"	"3672"	"0"	"3672"	"0"	"c.*6A>G"	"r.(=)"	"p.(=)"	""
"0000611698"	"00005773"	"30"	"159"	"0"	"159"	"0"	"c.159C>T"	"r.(?)"	"p.(Ala53=)"	""
"0000622086"	"00005773"	"70"	"409"	"0"	"409"	"0"	"c.409C>T"	"r.(?)"	"p.(Gln137Ter)"	""
"0000622087"	"00005773"	"70"	"1213"	"0"	"1213"	"0"	"c.1213C>T"	"r.(?)"	"p.(Arg405Ter)"	""
"0000622088"	"00005773"	"50"	"1783"	"0"	"1783"	"0"	"c.1783C>G"	"r.(?)"	"p.(Gln595Glu)"	""
"0000622089"	"00005773"	"50"	"2299"	"0"	"2299"	"0"	"c.2299C>T"	"r.(?)"	"p.(Arg767Trp)"	""
"0000622090"	"00005773"	"30"	"3585"	"0"	"3585"	"0"	"c.3585G>A"	"r.(?)"	"p.(Glu1195=)"	""
"0000652513"	"00005773"	"10"	"3298"	"0"	"3298"	"0"	"c.3298T>C"	"r.(?)"	"p.(Trp1100Arg)"	""
"0000653302"	"00005773"	"90"	"2244"	"0"	"2245"	"0"	"c.2244_2245del"	"r.(?)"	"p.(Glu750Glyfs*30)"	""
"0000656145"	"00005773"	"50"	"2747"	"0"	"2747"	"0"	"c.2747G>A"	"r.(?)"	"p.(Arg916His)"	""
"0000656146"	"00005773"	"90"	"2953"	"1"	"2953"	"1"	"c.2953+1G>T"	"r.spl?"	"p.?"	""
"0000670019"	"00005773"	"10"	"3298"	"0"	"3298"	"0"	"c.3298T>C"	"r.(?)"	"p.(Trp1100Arg)"	""
"0000678424"	"00005773"	"30"	"8"	"0"	"8"	"0"	"c.8T>A"	"r.(?)"	"p.(Phe3Tyr)"	""
"0000678425"	"00005773"	"30"	"992"	"0"	"992"	"0"	"c.992A>G"	"r.(?)"	"p.(His331Arg)"	""
"0000678426"	"00005773"	"30"	"1332"	"0"	"1332"	"0"	"c.1332T>C"	"r.(?)"	"p.(Pro444=)"	""
"0000678427"	"00005773"	"50"	"2045"	"0"	"2045"	"0"	"c.2045T>C"	"r.(?)"	"p.(Val682Ala)"	""
"0000678428"	"00005773"	"30"	"2609"	"0"	"2609"	"0"	"c.2609T>C"	"r.(?)"	"p.(Ile870Thr)"	""
"0000690319"	"00005773"	"30"	"991"	"0"	"991"	"0"	"c.991C>T"	"r.(?)"	"p.(His331Tyr)"	""
"0000722076"	"00005773"	"50"	"1660"	"0"	"1660"	"0"	"c.1660C>A"	"r.(?)"	"p.(His554Asn)"	""
"0000722077"	"00005773"	"50"	"1678"	"0"	"1678"	"0"	"c.1678G>A"	"r.(?)"	"p.(Val560Ile)"	""
"0000722078"	"00005773"	"30"	"2107"	"0"	"2107"	"0"	"c.2107A>G"	"r.(?)"	"p.(Ser703Gly)"	""
"0000722079"	"00005773"	"10"	"2113"	"36"	"2113"	"36"	"c.2113+36del"	"r.(=)"	"p.(=)"	""
"0000722080"	"00005773"	"30"	"3270"	"0"	"3270"	"0"	"c.3270C>T"	"r.(?)"	"p.(Pro1090=)"	""
"0000722081"	"00005773"	"30"	"3478"	"0"	"3478"	"0"	"c.3478C>T"	"r.(?)"	"p.(Pro1160Ser)"	""
"0000759758"	"00005773"	"90"	"457"	"0"	"458"	"0"	"c.457_458del"	"r.(?)"	"p.(Arg153GlyfsTer2)"	""
"0000759784"	"00005773"	"90"	"2448"	"0"	"2451"	"0"	"c.2448_2451del"	"r.(?)"	"p.(Glu817LysfsTer18)"	""
"0000783464"	"00005773"	"90"	"2708"	"0"	"2708"	"0"	"c.2708del"	"r.(?)"	"p.(Asn903Metfs*2)"	""
"0000783465"	"00005773"	"90"	"2244"	"0"	"2245"	"0"	"c.2244_2245del"	"r.(?)"	"p.(Glu750Glyfs*30)"	""
"0000783466"	"00005773"	"90"	"2244"	"0"	"2245"	"0"	"c.2244_2245del"	"r.(?)"	"p.(Glu750Glyfs*30)"	""
"0000783467"	"00005773"	"90"	"3212"	"0"	"3212"	"0"	"c.3212dup"	"r.(?)"	"p.(Tyr1071*)"	""
"0000783468"	"00005773"	"90"	"3212"	"0"	"3212"	"0"	"c.3212dup"	"r.(?)"	"p.(Tyr1071*)"	""
"0000783469"	"00005773"	"90"	"2448"	"0"	"2454"	"0"	"c.2448_2454dup"	"r.(?)"	"p.(Glu819Argfs*7)"	""
"0000783470"	"00005773"	"90"	"457"	"0"	"457"	"0"	"c.457del"	"r.(?)"	"p.(Arg153Glyfs*35)"	""
"0000783471"	"00005773"	"90"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	""
"0000783472"	"00005773"	"90"	"658"	"0"	"658"	"0"	"c.658C>T"	"r.(?)"	"p.(Arg220*)"	""
"0000783473"	"00005773"	"90"	"2527"	"0"	"2528"	"0"	"c.2527_2528del"	"r.(?)"	"p.(Met843Glufs*25)"	""
"0000783474"	"00005773"	"90"	"3205"	"1"	"3205"	"1"	"c.3205+1G>A"	"r.spl?"	"p.?"	""
"0000783475"	"00005773"	"90"	"1132"	"0"	"1132"	"0"	"c.1132C>T"	"r.(?)"	"p.(Arg378*)"	""
"0000783476"	"00005773"	"90"	"1132"	"0"	"1132"	"0"	"c.1132C>T"	"r.(?)"	"p.(Arg378*)"	""
"0000783477"	"00005773"	"90"	"2527"	"0"	"2528"	"0"	"c.2527_2528del"	"r.(?)"	"p.(Met843Glufs*25)"	""
"0000783478"	"00005773"	"90"	"3212"	"0"	"3212"	"0"	"c.3212dup"	"r.(?)"	"p.(Tyr1071*)"	""
"0000783479"	"00005773"	"90"	"2448"	"0"	"2454"	"0"	"c.2448_2454del"	"r.(?)"	"p.(Glu817Lysfs*17)"	""
"0000783480"	"00005773"	"90"	"1682"	"1"	"1682"	"1"	"c.1682+1G>T"	"r.spl?"	"p.?"	""
"0000783689"	"00005773"	"90"	"2280"	"0"	"2280"	"0"	"c.2280del"	"r.(?)"	"p.(Glu761Lysfs*35)"	""
"0000783690"	"00005773"	"90"	"2280"	"0"	"2280"	"0"	"c.2280del"	"r.(?)"	"p.(Glu761Lysfs*35)"	""
"0000783691"	"00005773"	"90"	"2953"	"1"	"2953"	"1"	"c.2953+1G>A"	"r.spl?"	"p.?"	""
"0000783692"	"00005773"	"90"	"2953"	"1"	"2953"	"1"	"c.2953+1G>A"	"r.spl?"	"p.?"	""
"0000783693"	"00005773"	"90"	"2260"	"0"	"2260"	"0"	"c.2260C>T"	"r.(?)"	"p.(Arg754*)"	""
"0000783694"	"00005773"	"90"	"2527"	"0"	"2528"	"0"	"c.2527_2528del"	"r.(?)"	"p.(Met843Glufs*25)"	""
"0000783695"	"00005773"	"90"	"2527"	"0"	"2528"	"0"	"c.2527_2528del"	"r.(?)"	"p.(Met843Glufs*25)"	""
"0000783696"	"00005773"	"90"	"950"	"1"	"950"	"1"	"c.950+1G>C"	"r.spl?"	"p.?"	""
"0000783697"	"00005773"	"90"	"2441"	"0"	"2444"	"0"	"c.2441_2444del"	"r.(?)"	"p.(Lys814Argfs*21)"	""
"0000783698"	"00005773"	"90"	"2441"	"0"	"2444"	"0"	"c.2441_2444del"	"r.(?)"	"p.(Lys814Argfs*21)"	""
"0000783699"	"00005773"	"90"	"2953"	"1"	"2953"	"1"	"c.2953+1G>A"	"r.spl?"	"p.?"	""
"0000783700"	"00005773"	"90"	"2448"	"0"	"2454"	"0"	"c.2448_2454del"	"r.(?)"	"p.(Glu817Lysfs*17)"	""
"0000783701"	"00005773"	"90"	"363"	"0"	"364"	"0"	"c.363_364del"	"r.(?)"	"p.(His121Glnfs*22)"	""
"0000788402"	"00005773"	"50"	"2405"	"0"	"2405"	"0"	"c.2405G>A"	"r.(?)"	"p.(Arg802Gln)"	"19"
"0000788406"	"00005773"	"50"	"1541"	"0"	"1541"	"0"	"c.1541C>T"	"r.(?)"	"p.(Pro514Leu)"	"12"
"0000788479"	"00005773"	"50"	"2405"	"0"	"2405"	"0"	"c.2405G>A"	"r.(?)"	"p.(Arg802Gln)"	"19"
"0000791795"	"00005773"	"70"	"2244"	"0"	"2245"	"0"	"c.2244_2245del"	"r.(?)"	"p.(Gln750Glyfs*30)"	""
"0000791796"	"00005773"	"70"	"1835"	"0"	"1845"	"0"	"c.1835_1845del"	"r.(?)"	"p.(Arg612Thrfs*2)"	""
"0000791874"	"00005773"	"70"	"2280"	"0"	"2280"	"0"	"c.2280del"	"r.(?)"	"p.(Gln761Lysfs*35)"	""
"0000791875"	"00005773"	"70"	"2814"	"-1"	"2814"	"-1"	"c.2814-1G>C"	"r.spl"	"p.(?)"	""
"0000803727"	"00005773"	"50"	"842"	"0"	"842"	"0"	"c.842G>A"	"r.(?)"	"p.(Arg281Gln)"	""
"0000803728"	"00005773"	"30"	"992"	"0"	"992"	"0"	"c.992A>G"	"r.(?)"	"p.(His331Arg)"	""
"0000803729"	"00005773"	"30"	"1245"	"0"	"1245"	"0"	"c.1245G>A"	"r.(?)"	"p.(Ala415=)"	""
"0000803730"	"00005773"	"30"	"1302"	"0"	"1302"	"0"	"c.1302A>C"	"r.(?)"	"p.(Ala434=)"	""
"0000803731"	"00005773"	"30"	"1604"	"-9"	"1604"	"-9"	"c.1604-9T>C"	"r.(=)"	"p.(=)"	""
"0000803732"	"00005773"	"70"	"2182"	"0"	"2182"	"0"	"c.2182C>T"	"r.(?)"	"p.(Gln728*)"	""
"0000803733"	"00005773"	"70"	"2226"	"1"	"2226"	"1"	"c.2226+1G>T"	"r.spl?"	"p.?"	""
"0000803734"	"00005773"	"90"	"2506"	"0"	"2509"	"0"	"c.2506_2509del"	"r.(?)"	"p.(Ile836Glyfs*7)"	""
"0000803735"	"00005773"	"30"	"3478"	"0"	"3478"	"0"	"c.3478C>T"	"r.(?)"	"p.(Pro1160Ser)"	""
"0000818301"	"00005773"	"90"	"2244"	"0"	"2245"	"0"	"c.2244_2245del"	"r.(?)"	"p.(Glu750Glyfs*30)"	"17"
"0000818302"	"00005773"	"90"	"2280"	"0"	"2280"	"0"	"c.2280del"	"r.(?)"	"p.(Glu761Lysfs*35)"	"17"
"0000836754"	"00005773"	"30"	"510"	"29"	"510"	"29"	"c.510+29A>G"	"r.(=)"	"p.(=)"	""
"0000851986"	"00005773"	"30"	"212"	"0"	"212"	"0"	"c.212A>G"	"r.(?)"	"p.(Lys71Arg)"	""
"0000851987"	"00005773"	"50"	"1972"	"0"	"1972"	"0"	"c.1972A>G"	"r.(?)"	"p.(Arg658Gly)"	""
"0000851988"	"00005773"	"50"	"2736"	"0"	"2736"	"0"	"c.2736A>C"	"r.(?)"	"p.(Arg912Ser)"	""
"0000851989"	"00005773"	"30"	"3150"	"0"	"3150"	"0"	"c.3150T>C"	"r.(?)"	"p.(Asp1050=)"	""
"0000861278"	"00005773"	"10"	"2113"	"35"	"2113"	"36"	"c.2113+35_2113+36del"	"r.(=)"	"p.(=)"	""
"0000861279"	"00005773"	"50"	"2244"	"0"	"2245"	"0"	"c.2244_2245del"	"r.(?)"	"p.(Glu750Glyfs*30)"	""
"0000861280"	"00005773"	"30"	"3123"	"0"	"3123"	"0"	"c.3123A>G"	"r.(?)"	"p.(Lys1041=)"	""
"0000888435"	"00005773"	"90"	"151"	"0"	"151"	"0"	"c.151A>T"	"r.(?)"	"p.(Arg51*)"	""
"0000888436"	"00005773"	"30"	"1962"	"0"	"1962"	"0"	"c.1962T>C"	"r.(?)"	"p.(Thr654=)"	""
"0000888437"	"00005773"	"10"	"2113"	"34"	"2113"	"36"	"c.2113+34_2113+36del"	"r.(=)"	"p.(=)"	""
"0000888438"	"00005773"	"30"	"2769"	"0"	"2769"	"0"	"c.2769A>G"	"r.(?)"	"p.(Gln923=)"	""
"0000888439"	"00005773"	"30"	"3095"	"-11"	"3095"	"-11"	"c.3095-11A>G"	"r.(=)"	"p.(=)"	""
"0000905933"	"00005773"	"90"	"167"	"0"	"168"	"0"	"c.167_168del"	"r.(?)"	"p.(Lys56Serfs*6)"	""
"0000912981"	"00005773"	"30"	"208"	"-13"	"208"	"-13"	"c.208-13A>G"	"r.(=)"	"p.(=)"	""
"0000912982"	"00005773"	"30"	"208"	"-13"	"208"	"-13"	"c.208-13A>G"	"r.(=)"	"p.(=)"	""
"0000912983"	"00005773"	"30"	"511"	"-15"	"511"	"-15"	"c.511-15T>G"	"r.(=)"	"p.(=)"	""
"0000912984"	"00005773"	"30"	"2695"	"6"	"2695"	"6"	"c.2695+6G>A"	"r.(=)"	"p.(=)"	""
"0000912985"	"00005773"	"50"	"48306"	"0"	"48306"	"0"	"c.*44640T>G"	"r.(=)"	"p.(=)"	""
"0000929473"	"00005773"	"50"	"7072"	"0"	"7072"	"0"	"c.*3406G>A"	"r.(=)"	"p.(=)"	""
"0000949112"	"00005773"	"30"	"159"	"0"	"159"	"0"	"c.159C>T"	"r.(?)"	"p.(Ala53=)"	""
"0000949113"	"00005773"	"30"	"2509"	"0"	"2509"	"0"	"c.2509G>A"	"r.(?)"	"p.(Gly837Arg)"	""
"0000949114"	"00005773"	"50"	"27514"	"0"	"27514"	"0"	"c.*23848T>C"	"r.(=)"	"p.(=)"	""
"0000949115"	"00005773"	"50"	"110534"	"0"	"110534"	"0"	"c.*106868T>A"	"r.(=)"	"p.(=)"	""
"0000978264"	"00005773"	"70"	"167"	"0"	"168"	"0"	"c.167_168del"	"r.(?)"	"p.(Lys56Serfs*6)"	""
"0000978265"	"00005773"	"50"	"1272"	"476"	"1272"	"476"	"c.1272+476T>C"	"r.(=)"	"p.(=)"	""
"0000978266"	"00005773"	"30"	"1500"	"0"	"1500"	"0"	"c.1500A>G"	"r.(?)"	"p.(Pro500=)"	""
"0000978267"	"00005773"	"30"	"2377"	"-8"	"2377"	"-4"	"c.2377-8_2377-4del"	"r.spl?"	"p.?"	""
"0000978268"	"00005773"	"30"	"2524"	"-12"	"2524"	"-12"	"c.2524-12T>A"	"r.(=)"	"p.(=)"	""
"0000978269"	"00005773"	"30"	"3123"	"0"	"3123"	"0"	"c.3123A>G"	"r.(?)"	"p.(Lys1041=)"	""
"0000978270"	"00005773"	"30"	"3455"	"-20"	"3455"	"-20"	"c.3455-20G>T"	"r.(=)"	"p.(=)"	""
"0000978271"	"00005773"	"30"	"34256"	"0"	"34256"	"0"	"c.*30590G>A"	"r.(=)"	"p.(=)"	""
"0000978272"	"00005773"	"50"	"36194"	"0"	"36194"	"0"	"c.*32528G>A"	"r.(=)"	"p.(=)"	""
"0000997303"	"00005773"	"50"	"19584"	"0"	"19586"	"0"	"c.*15918_*15920del"	"r.(=)"	"p.(=)"	""
"0000997304"	"00005773"	"50"	"84049"	"0"	"84049"	"0"	"c.*80383T>C"	"r.(=)"	"p.(=)"	""
"0000997305"	"00005773"	"50"	"100116"	"0"	"100116"	"0"	"c.*96450C>A"	"r.(=)"	"p.(=)"	""
"0001014462"	"00005773"	"50"	"9640"	"0"	"9642"	"0"	"c.*5974_*5976del"	"r.(=)"	"p.(=)"	""
"0001037029"	"00005773"	"50"	"370"	"0"	"370"	"0"	"c.370A>G"	"r.(?)"	"p.(Lys124Glu)"	""
"0001037030"	"00005773"	"30"	"1603"	"8"	"1603"	"8"	"c.1603+8A>G"	"r.(=)"	"p.(=)"	""
"0001037031"	"00005773"	"30"	"2226"	"3"	"2226"	"3"	"c.2226+3G>A"	"r.spl?"	"p.?"	""
"0001037032"	"00005773"	"50"	"2394"	"0"	"2396"	"0"	"c.2394_2396del"	"r.(?)"	"p.(Glu799del)"	""
"0001037033"	"00005773"	"50"	"2736"	"0"	"2736"	"0"	"c.2736A>C"	"r.(?)"	"p.(Arg912Ser)"	""
"0001037034"	"00005773"	"30"	"11320"	"0"	"11320"	"0"	"c.*7654T>C"	"r.(=)"	"p.(=)"	""
"0001037035"	"00005773"	"30"	"11320"	"0"	"11320"	"0"	"c.*7654T>C"	"r.(=)"	"p.(=)"	""
"0001037036"	"00005773"	"30"	"110548"	"0"	"110548"	"0"	"c.*106882A>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 80
"{{screeningid}}"	"{{variantid}}"
"0000017688"	"0000037762"
"0000017689"	"0000037900"
"0000017774"	"0000037923"
"0000017774"	"0000037924"
"0000017775"	"0000037925"
"0000017775"	"0000037926"
"0000017776"	"0000037927"
"0000017776"	"0000037928"
"0000017777"	"0000037929"
"0000017777"	"0000037930"
"0000017778"	"0000037931"
"0000017783"	"0000037936"
"0000017783"	"0000037937"
"0000017784"	"0000037938"
"0000017784"	"0000037939"
"0000017785"	"0000037940"
"0000017785"	"0000037941"
"0000017786"	"0000037942"
"0000017787"	"0000037943"
"0000017787"	"0000037944"
"0000017788"	"0000037945"
"0000017788"	"0000037946"
"0000017789"	"0000037947"
"0000017789"	"0000037948"
"0000017790"	"0000037949"
"0000017791"	"0000037950"
"0000017791"	"0000037951"
"0000017792"	"0000037952"
"0000017794"	"0000037961"
"0000017795"	"0000037962"
"0000017796"	"0000037963"
"0000017797"	"0000037964"
"0000017798"	"0000037965"
"0000080973"	"0000130059"
"0000295824"	"0000652513"
"0000296613"	"0000653302"
"0000306331"	"0000670019"
"0000360082"	"0000759758"
"0000360082"	"0000759784"
"0000373484"	"0000783464"
"0000373485"	"0000783465"
"0000373485"	"0000783689"
"0000373486"	"0000783466"
"0000373486"	"0000783690"
"0000373487"	"0000783467"
"0000373487"	"0000783691"
"0000373488"	"0000783468"
"0000373488"	"0000783692"
"0000373489"	"0000783469"
"0000373490"	"0000783470"
"0000373490"	"0000783693"
"0000373491"	"0000783471"
"0000373491"	"0000783694"
"0000373492"	"0000783472"
"0000373492"	"0000783695"
"0000373493"	"0000783473"
"0000373494"	"0000783474"
"0000373494"	"0000783696"
"0000373495"	"0000783475"
"0000373495"	"0000783697"
"0000373496"	"0000783476"
"0000373496"	"0000783698"
"0000373497"	"0000783477"
"0000373498"	"0000783478"
"0000373498"	"0000783699"
"0000373499"	"0000783479"
"0000373499"	"0000783700"
"0000373500"	"0000783480"
"0000373500"	"0000783701"
"0000376614"	"0000788402"
"0000376615"	"0000788406"
"0000376626"	"0000788479"
"0000378889"	"0000791795"
"0000378889"	"0000791874"
"0000378890"	"0000791796"
"0000378890"	"0000791875"
"0000389334"	"0000818301"
"0000389334"	"0000818302"
"0000402532"	"0000836754"
"0000428249"	"0000905933"