### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CPS1)
# 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}}"
"CPS1"	"carbamoyl-phosphate synthase 1, mitochondrial"	"2"	"p"	"unknown"	"LRG_336"	"UD_132118825123"	""	"https://www.LOVD.nl/CPS1"	""	"1"	"2323"	"1373"	"608307"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"https://databases.lovd.nl/shared/refseq/CPS1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2009-03-20 00:00:00"	"00006"	"2017-07-31 21:58:48"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00005620"	"CPS1"	"transcript variant 1"	"001"	"NM_001122633.2"	""	"NP_001116105.1"	""	""	""	"-82"	"5643"	"4521"	"211342406"	"211543831"	""	"0000-00-00 00:00:00"	""	""
"00025930"	"CPS1"	"transcript variant 2"	"003"	"NM_001875.4"	""	"NP_001866.2"	""	""	"RefSeq select"	"-135"	"5625"	"4503"	"211421323"	"211543831"	"00006"	"2024-05-25 12:00:11"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{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"
"01848"	"CPSID"	"carbamoylphosphate synthetase I deficiency"	"AR"	"237300"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2024-05-25 11:45:52"
"03913"	"PHN"	"hypertension, pulmonary, neonatal, susceptibility to (PHN)"	""	"615371"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2017-07-24 11:37:33"
"05476"	"SEMDSP"	"dysplasia, spondyloepimetaphyseal, SPONASTRIME type (SEMDSP)"	"AR"	"271510"	""	"autosomal recesive"	""	"00006"	"2018-10-20 03:14:40"	"00006"	"2020-05-19 10:37:38"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"CPS1"	"01848"
"CPS1"	"03913"


## Individuals ## Do not remove or alter this header ##
## Count = 272
"{{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}}"
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"00111048"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111049"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111050"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111051"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111052"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111053"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111054"	""	""	""	"4"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111055"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111056"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111057"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111058"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111059"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111060"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111061"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111062"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111063"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111064"	""	""	""	"3"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111065"	""	""	""	"10"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111066"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111067"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111068"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111069"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111070"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111071"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111072"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111073"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111074"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111075"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111076"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111077"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111078"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111079"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111080"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111081"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111082"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111083"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111084"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111085"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111086"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111087"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111088"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111089"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111090"	""	""	""	"3"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111091"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111092"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111093"	""	""	""	"23"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111094"	""	""	""	"22"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111095"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111096"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111097"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111098"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111099"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111100"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111101"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111102"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111103"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111104"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111105"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111106"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111107"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111108"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111109"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00111110"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111111"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111112"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111113"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111114"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111115"	""	""	""	"2"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111116"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111117"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111118"	""	""	""	"1"	""	"00006"	""	""	"F"	"yes"	"Japan"	""	"0"	""	""	""	""
"00111119"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00111120"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00111121"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111122"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111123"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111124"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111125"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111126"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111127"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111128"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111129"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111130"	""	""	""	"1"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111131"	""	""	""	"2"	""	"00006"	""	""	""	""	"United States"	""	"0"	""	""	""	""
"00111132"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111133"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111134"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111135"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00111136"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111137"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111138"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111139"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111140"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111141"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111142"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111143"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111144"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111145"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111146"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111147"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111148"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111149"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111150"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111151"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111152"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111153"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111154"	""	""	""	"1"	""	"00006"	""	""	""	""	""	""	"0"	""	""	""	""
"00111155"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00111156"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00111157"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00111158"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00111159"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00111160"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00111161"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00111162"	""	""	""	"1"	""	"00006"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00111163"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00111164"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00111165"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00111166"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00111167"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00111168"	""	""	""	"1"	""	"00006"	""	""	"F"	""	"Japan"	""	"0"	""	""	""	""
"00111169"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00111170"	""	""	""	"1"	""	"00006"	""	""	"M"	""	"Japan"	""	"0"	""	""	""	""
"00151993"	""	""	""	"1"	""	"01741"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00225452"	""	""	""	"1"	""	"00006"	"{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"Brazil"	""	"0"	""	""	"African black;non-Latin European"	"-Pat4"
"00248285"	""	""	""	"1"	""	"00006"	"{PMID:Haberle 2004:15164414}"	"prenatal diagnosis, fetus affected"	""	""	"India"	""	"0"	""	""	""	"Fam3"
"00248286"	""	""	""	"1"	""	"00006"	"{PMID:Haberle 2004:15164414}"	"prenatal diagnosis, fetus affected"	""	""	"Lebanon"	""	"0"	""	""	""	"Fam4"
"00248287"	""	""	""	"1"	""	"00006"	"{PMID:Haberle 2004:15164414}"	"prenatal diagnosis, fetus not affected"	""	""	"Germany"	""	"0"	""	""	""	"Fam5"
"00248288"	""	""	""	"2"	""	"00006"	"{PMID:Haberle 2004:15164414}"	"prenatal diagnosis, affected and not affected fetus"	""	""	"Pakistan"	""	"0"	""	""	""	"Fam6"
"00274149"	""	""	""	"2"	""	"00006"	"{PMID:Pronicka 2016:27290639}"	"2-generation family, affected brother/sisters"	"M"	""	"Poland"	""	"0"	""	""	""	"Pat13"
"00274174"	""	""	""	"2"	""	"00006"	"{PMID:Pronicka 2016:27290639}"	"2-generation family, 2 affected brothers"	"M"	""	"Poland"	""	"0"	""	""	""	"Pat40"
"00292559"	""	""	""	"3"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292560"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292561"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00292562"	""	""	""	"29"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00305904"	""	""	""	"1"	""	"03695"	""	""	"F"	""	"China"	""	"0"	""	""	""	"19"
"00306202"	""	""	""	"1"	""	"03695"	""	""	"M"	""	"China"	""	""	""	""	""	"100"
"00435592"	""	""	""	"1"	""	"04541"	""	""	"M"	"no"	"China"	"<00y01m"	""	""	""	""	""
"00435593"	""	""	""	"1"	""	"04541"	""	""	"M"	"no"	"China"	"00y00m05d"	""	""	""	""	""
"00450348"	""	""	""	"1"	""	"00006"	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	""	"Spain"	""	"0"	""	""	""	"Pat19"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 272
"{{individualid}}"	"{{diseaseid}}"
"00110916"	"01848"
"00110917"	"01848"
"00110918"	"01848"
"00110919"	"01848"
"00110920"	"01848"
"00110921"	"01848"
"00110922"	"01848"
"00110923"	"01848"
"00110924"	"01848"
"00110925"	"01848"
"00110926"	"01848"
"00110927"	"01848"
"00110928"	"01848"
"00110929"	"01848"
"00110930"	"01848"
"00110931"	"01848"
"00110932"	"01848"
"00110933"	"01848"
"00110934"	"01848"
"00110935"	"01848"
"00110936"	"01848"
"00110937"	"01848"
"00110938"	"01848"
"00110939"	"01848"
"00110940"	"01848"
"00110941"	"01848"
"00110942"	"01848"
"00110943"	"01848"
"00110944"	"01848"
"00110945"	"01848"
"00110946"	"01848"
"00110947"	"01848"
"00110948"	"01848"
"00110949"	"01848"
"00110950"	"01848"
"00110951"	"01848"
"00110952"	"01848"
"00110953"	"01848"
"00110954"	"01848"
"00110955"	"01848"
"00110956"	"01848"
"00110957"	"01848"
"00110958"	"01848"
"00110959"	"01848"
"00110960"	"00198"
"00110961"	"01848"
"00110962"	"01848"
"00110963"	"00198"
"00110964"	"01848"
"00110965"	"01848"
"00110966"	"01848"
"00110967"	"01848"
"00110968"	"01848"
"00110969"	"01848"
"00110970"	"01848"
"00110971"	"01848"
"00110972"	"01848"
"00110973"	"01848"
"00110974"	"01848"
"00110975"	"01848"
"00110976"	"01848"
"00110977"	"01848"
"00110978"	"01848"
"00110979"	"01848"
"00110980"	"01848"
"00110981"	"01848"
"00110982"	"00198"
"00110983"	"01848"
"00110984"	"01848"
"00110985"	"01848"
"00110986"	"00198"
"00110987"	"01848"
"00110988"	"01848"
"00110989"	"01848"
"00110990"	"01848"
"00110991"	"01848"
"00110992"	"01848"
"00110993"	"01848"
"00110994"	"01848"
"00110995"	"01848"
"00110996"	"01848"
"00110997"	"00198"
"00110998"	"00198"
"00110999"	"01848"
"00111000"	"01848"
"00111001"	"01848"
"00111002"	"01848"
"00111003"	"01848"
"00111004"	"01848"
"00111005"	"01848"
"00111006"	"01848"
"00111007"	"01848"
"00111008"	"01848"
"00111009"	"01848"
"00111010"	"01848"
"00111011"	"01848"
"00111012"	"01848"
"00111013"	"01848"
"00111014"	"01848"
"00111015"	"01848"
"00111016"	"01848"
"00111017"	"01848"
"00111018"	"01848"
"00111019"	"01848"
"00111020"	"01848"
"00111021"	"01848"
"00111022"	"01848"
"00111023"	"01848"
"00111024"	"01848"
"00111025"	"00198"
"00111026"	"01848"
"00111027"	"01848"
"00111028"	"01848"
"00111029"	"01848"
"00111030"	"01848"
"00111031"	"01848"
"00111032"	"01848"
"00111033"	"01848"
"00111034"	"01848"
"00111035"	"01848"
"00111036"	"01848"
"00111037"	"01848"
"00111038"	"01848"
"00111039"	"00198"
"00111040"	"01848"
"00111041"	"01848"
"00111042"	"01848"
"00111043"	"01848"
"00111044"	"01848"
"00111045"	"01848"
"00111046"	"01848"
"00111047"	"01848"
"00111048"	"01848"
"00111049"	"01848"
"00111050"	"01848"
"00111051"	"01848"
"00111052"	"01848"
"00111053"	"01848"
"00111054"	"00198"
"00111055"	"01848"
"00111056"	"01848"
"00111057"	"01848"
"00111058"	"01848"
"00111059"	"01848"
"00111060"	"01848"
"00111061"	"01848"
"00111062"	"01848"
"00111063"	"01848"
"00111064"	"00198"
"00111065"	"00198"
"00111066"	"01848"
"00111067"	"01848"
"00111068"	"01848"
"00111069"	"01848"
"00111070"	"01848"
"00111071"	"01848"
"00111072"	"00198"
"00111073"	"00198"
"00111074"	"01848"
"00111075"	"01848"
"00111076"	"01848"
"00111077"	"01848"
"00111078"	"00198"
"00111079"	"01848"
"00111080"	"01848"
"00111081"	"01848"
"00111082"	"01848"
"00111083"	"01848"
"00111084"	"00198"
"00111085"	"00198"
"00111086"	"01848"
"00111087"	"00198"
"00111088"	"01848"
"00111089"	"01848"
"00111090"	"00198"
"00111091"	"01848"
"00111092"	"00198"
"00111093"	"03913"
"00111094"	"00198"
"00111095"	"01848"
"00111096"	"01848"
"00111097"	"01848"
"00111098"	"01848"
"00111099"	"01848"
"00111100"	"01848"
"00111101"	"01848"
"00111102"	"01848"
"00111103"	"01848"
"00111104"	"01848"
"00111105"	"01848"
"00111106"	"01848"
"00111107"	"01848"
"00111108"	"01848"
"00111109"	"01848"
"00111110"	"01848"
"00111111"	"01848"
"00111112"	"01848"
"00111113"	"01848"
"00111114"	"01848"
"00111115"	"00198"
"00111116"	"01848"
"00111117"	"01848"
"00111118"	"01848"
"00111119"	"01848"
"00111120"	"01848"
"00111121"	"01848"
"00111122"	"01848"
"00111123"	"01848"
"00111124"	"01848"
"00111125"	"01848"
"00111126"	"01848"
"00111127"	"01848"
"00111128"	"01848"
"00111129"	"00198"
"00111130"	"00198"
"00111131"	"00198"
"00111132"	"01848"
"00111133"	"01848"
"00111134"	"01848"
"00111135"	"01848"
"00111136"	"01848"
"00111137"	"01848"
"00111138"	"01848"
"00111139"	"01848"
"00111140"	"01848"
"00111141"	"01848"
"00111142"	"01848"
"00111143"	"01848"
"00111144"	"01848"
"00111145"	"01848"
"00111146"	"01848"
"00111147"	"01848"
"00111148"	"01848"
"00111149"	"01848"
"00111150"	"01848"
"00111151"	"01848"
"00111152"	"01848"
"00111153"	"01848"
"00111154"	"01848"
"00111155"	"01848"
"00111156"	"01848"
"00111157"	"01848"
"00111158"	"01848"
"00111159"	"01848"
"00111160"	"01848"
"00111161"	"01848"
"00111162"	"01848"
"00111163"	"01848"
"00111164"	"01848"
"00111165"	"01848"
"00111166"	"01848"
"00111167"	"01848"
"00111168"	"01848"
"00111169"	"01848"
"00111170"	"01848"
"00151993"	"01848"
"00225452"	"05476"
"00248285"	"01848"
"00248286"	"01848"
"00248287"	"01848"
"00248288"	"01848"
"00274149"	"00198"
"00274174"	"00198"
"00292559"	"00198"
"00292560"	"00198"
"00292561"	"00198"
"00292562"	"00198"
"00305904"	"00198"
"00306202"	"01848"
"00435592"	"01848"
"00435593"	"01848"
"00450348"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01848, 03913, 05476
## Count = 101
"{{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}}"
"0000087213"	"00198"	"00111092"	"00006"	"Unknown"	""	"venoocclusive disease after bone marrow transplantation, risk factor for"	""	""	""	""	""	""	""	""	""	""	""
"0000087214"	"01848"	"00111166"	"00006"	"Unknown"	""	"onset 3d, death 1y"	""	""	""	""	""	""	""	""	""	""	""
"0000087215"	"01848"	"00111164"	"00006"	"Unknown"	""	"onset 1d, death 4d"	""	""	""	""	""	""	""	""	""	""	""
"0000087216"	"01848"	"00110917"	"00006"	"Unknown"	""	"no mental retardation"	""	""	""	""	""	""	""	""	""	""	""
"0000087217"	"01848"	"00110918"	"00006"	"Unknown"	""	"onset<1w, death <1w"	""	""	""	""	""	""	""	""	""	""	""
"0000087218"	"01848"	"00111165"	"00006"	"Unknown"	""	"onset 13y, alive 18y; no mental reatardation"	""	""	""	""	""	""	""	""	""	""	""
"0000087219"	"01848"	"00110920"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087220"	"01848"	"00111167"	"00006"	"Unknown"	""	"onset 1d, death 20d"	""	""	""	""	""	""	""	""	""	""	""
"0000087221"	"01848"	"00110923"	"00006"	"Isolated (sporadic)"	""	"neonatal, died at 11d"	""	""	""	""	""	""	""	""	""	""	""
"0000087222"	"01848"	"00111156"	"00006"	"Unknown"	""	"survival 3d"	""	""	""	""	""	""	""	""	""	""	""
"0000087223"	"01848"	"00110926"	"00006"	"Unknown"	""	"late onset (27y)"	""	""	""	""	""	""	""	""	""	""	""
"0000087224"	"01848"	"00110928"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087225"	"01848"	"00110929"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087226"	"01848"	"00110935"	"00006"	"Unknown"	""	"late onset (15y)"	""	""	""	""	""	""	""	""	""	""	""
"0000087227"	"01848"	"00110938"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087228"	"01848"	"00111162"	"00006"	"Unknown"	""	"onset 2d, survives with liver transplantation, good mental status"	""	""	""	""	""	""	""	""	""	""	""
"0000087229"	"01848"	"00110942"	"00006"	"Unknown"	""	"neonatal onset"	""	""	""	""	""	""	""	""	""	""	""
"0000087230"	"01848"	"00110945"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087231"	"01848"	"00110948"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087232"	"01848"	"00110949"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087233"	"01848"	"00110950"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087234"	"01848"	"00110951"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087235"	"01848"	"00110952"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087236"	"01848"	"00111161"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087237"	"01848"	"00111168"	"00006"	"Unknown"	""	"onset 3d, alive; severe mental retardation"	""	""	""	""	""	""	""	""	""	""	""
"0000087238"	"01848"	"00110966"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087239"	"01848"	"00111169"	"00006"	"Unknown"	""	"onset 2d, death 14d"	""	""	""	""	""	""	""	""	""	""	""
"0000087240"	"01848"	"00110973"	"00006"	"Unknown"	""	"late onset"	""	""	""	""	""	""	""	""	""	""	""
"0000087241"	"01848"	"00110974"	"00006"	"Unknown"	""	"late onset (1m)"	""	""	""	""	""	""	""	""	""	""	""
"0000087242"	"01848"	"00110976"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087243"	"01848"	"00110978"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087244"	"01848"	"00110979"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087245"	"01848"	"00110980"	"00006"	"Unknown"	""	"late onset (1y)"	""	""	""	""	""	""	""	""	""	""	""
"0000087246"	"01848"	"00110983"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087247"	"01848"	"00110984"	"00006"	"Unknown"	""	"onset 2d, death 24d"	""	""	""	""	""	""	""	""	""	""	""
"0000087248"	"01848"	"00111163"	"00006"	"Unknown"	""	"onset 2d, death 36d"	""	""	""	""	""	""	""	""	""	""	""
"0000087249"	"01848"	"00110987"	"00006"	"Unknown"	""	"late onset"	""	""	""	""	""	""	""	""	""	""	""
"0000087250"	"01848"	"00110989"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087251"	"01848"	"00110990"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087252"	"01848"	"00110991"	"00006"	"Unknown"	""	"neonatal, survived"	""	""	""	""	""	""	""	""	""	""	""
"0000087253"	"01848"	"00110994"	"00006"	"Unknown"	""	"onset 1d, survived"	""	""	""	""	""	""	""	""	""	""	""
"0000087254"	"01848"	"00111000"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087255"	"01848"	"00111010"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087256"	"01848"	"00111155"	"00006"	"Unknown"	""	"onset 0d, death 13d"	""	""	""	""	""	""	""	""	""	""	""
"0000087257"	"01848"	"00111011"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087258"	"01848"	"00111017"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087259"	"01848"	"00111019"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087260"	"01848"	"00111027"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087261"	"01848"	"00111028"	"00006"	"Unknown"	""	"late onset"	""	""	""	""	""	""	""	""	""	""	""
"0000087262"	"01848"	"00111033"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087263"	"01848"	"00111040"	"00006"	"Unknown"	""	"onset 1y, alive 18y"	""	""	""	""	""	""	""	""	""	""	""
"0000087264"	"01848"	"00111044"	"00006"	"Unknown"	""	"patient died as neonate"	""	""	""	""	""	""	""	""	""	""	""
"0000087265"	"01848"	"00111045"	"00006"	"Unknown"	""	"onset 2d patient, onset 45y in grandfather of patient"	""	""	""	""	""	""	""	""	""	""	""
"0000087266"	"01848"	"00111048"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087267"	"01848"	"00111050"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087268"	"01848"	"00111060"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087269"	"01848"	"00111066"	"00006"	"Unknown"	""	"late onset"	""	""	""	""	""	""	""	""	""	""	""
"0000087270"	"01848"	"00111170"	"00006"	"Unknown"	""	"onset 1d, death 12d"	""	""	""	""	""	""	""	""	""	""	""
"0000087271"	"01848"	"00111069"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087272"	"01848"	"00111079"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087273"	"01848"	"00111086"	"00006"	"Unknown"	""	"late onset"	""	""	""	""	""	""	""	""	""	""	""
"0000087274"	"01848"	"00111089"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087275"	"01848"	"00111095"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087276"	"01848"	"00111096"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087277"	"01848"	"00111097"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087278"	"01848"	"00111100"	"00006"	"Unknown"	""	"neonatal presentation with exitus"	""	""	""	""	""	""	""	""	""	""	""
"0000087279"	"01848"	"00111159"	"00006"	"Unknown"	""	"late onset (31y)"	""	""	""	""	""	""	""	""	""	""	""
"0000087280"	"01848"	"00111105"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087281"	"01848"	"00111107"	"00006"	"Unknown"	""	"late onset"	""	""	""	""	""	""	""	""	""	""	""
"0000087282"	"01848"	"00111109"	"00006"	"Unknown"	""	"onset 9d (lethargy, grunting, severe hyperammonemia), severely retarded 27m"	""	""	""	""	""	""	""	""	""	""	""
"0000087283"	"01848"	"00111114"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087284"	"01848"	"00111117"	"00006"	"Unknown"	""	"late onset"	""	""	""	""	""	""	""	""	""	""	""
"0000087285"	"01848"	"00111118"	"00006"	"Isolated (sporadic)"	""	"onset 2d, death 4d"	""	""	""	""	""	""	""	""	""	""	""
"0000087286"	"01848"	"00111119"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087287"	"01848"	"00111120"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087288"	"01848"	"00111160"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087289"	"01848"	"00111126"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087290"	"01848"	"00111127"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087291"	"01848"	"00111128"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087292"	"01848"	"00111132"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087293"	"01848"	"00111135"	"00006"	"Unknown"	""	"onset 3d, death 28d"	""	""	""	""	""	""	""	""	""	""	""
"0000087294"	"01848"	"00111139"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087295"	"01848"	"00111140"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087296"	"01848"	"00111143"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087297"	"01848"	"00111148"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087298"	"01848"	"00111150"	"00006"	"Unknown"	""	"late onset"	""	""	""	""	""	""	""	""	""	""	""
"0000087299"	"01848"	"00111151"	"00006"	"Unknown"	""	"neonatal"	""	""	""	""	""	""	""	""	""	""	""
"0000087300"	"03913"	"00111093"	"00006"	"Unknown"	""	"primary pulmonary hypertension, association with"	""	""	""	""	""	""	""	""	""	""	""
"0000170567"	"05476"	"00225452"	"00006"	"Familial, autosomal recessive"	"2y2m"	"see paper; …"	""	""	""	""	""	""	""	""	""	"SPONASTRIME dysplasia"	""
"0000187294"	"01848"	"00248285"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"CPS1 deficiency"	""
"0000187295"	"01848"	"00248286"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"CPS1 deficiency"	""
"0000187296"	"01848"	"00248287"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"CPS1 deficiency"	""
"0000187297"	"01848"	"00248288"	"00006"	"Familial, autosomal recessive"	""	"see paper; …"	""	""	""	""	""	""	""	""	""	"CPS1 deficiency"	""
"0000209094"	"00198"	"00274149"	"00006"	"Familial, autosomal recessive"	""	"deceased; neonatal onset; 3-MGA in urine; mitochondrial disease criteria score 4; muscle biopsy from autopsy"	"0d"	""	""	""	""	""	""	""	""	"expected mitochondrial disorder"	""
"0000209119"	"00198"	"00274174"	"00006"	"Familial, autosomal recessive"	""	"deceased; neonatal onset; 3-MGA in urine; mitochondrial disease criteria score 5; muscle biopsy from autopsy"	"0d"	""	""	""	""	""	""	""	""	"expected mitochondrial disorder"	""
"0000231751"	"00198"	"00305904"	"03695"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"carbamoylphosphate synthetase I deficiency"	"carbamoylphosphate synthetase I deficiency"	""
"0000232050"	"01848"	"00306202"	"03695"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000312024"	"01848"	"00151993"	"01741"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000325777"	"01848"	"00435592"	"04541"	"Familial, autosomal recessive"	"00y00m03d"	"fever, poor feeding, poor response, hyperammonemia"	"00y00m03d"	""	"fever, poor feeding and poor response"	""	""	""	""	""	"carbamoylphosphate synthetase I deficiency"	""	""
"0000325778"	"01848"	"00435593"	"04541"	"Familial, autosomal recessive"	"00y00m02d"	"hypothermia, drowsiness"	"00y00m02d"	""	"hypothermia, drowsiness"	""	""	""	""	""	""	""	""
"0000339409"	"00198"	"00450348"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., late onset, neurologic damage"	""	""	""	""	""	""	""	""	"CPSID"	"urea cycle disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 274
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000111382"	"00110916"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"?"	"DNA"	""	""
"0000111383"	"00111163"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"?"	"DNA"	""	""
"0000111384"	"00111170"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"?"	"DNA"	""	""
"0000111385"	"00111107"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111386"	"00111117"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111387"	"00111125"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111388"	"00111137"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111389"	"00111166"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111390"	"00111167"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111391"	"00110927"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111392"	"00110934"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111393"	"00110943"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111394"	"00110949"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111395"	"00111161"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111396"	"00111168"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111397"	"00110973"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111398"	"00110987"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111399"	"00110995"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111400"	"00111006"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111401"	"00111015"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111402"	"00111038"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111403"	"00111047"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111404"	"00111054"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111405"	"00111061"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111406"	"00111069"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111407"	"00111076"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111408"	"00111085"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA"	"DNA"	""	""
"0000111409"	"00111091"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111410"	"00111100"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111411"	"00111103"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111412"	"00111159"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111413"	"00111104"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111414"	"00111105"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111415"	"00111106"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111416"	"00111108"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111417"	"00111109"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111418"	"00111110"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111419"	"00111111"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111420"	"00111112"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111421"	"00111113"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111422"	"00111114"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111423"	"00111115"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111424"	"00111116"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111425"	"00111118"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111426"	"00111119"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111427"	"00111120"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111428"	"00111121"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111429"	"00111122"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111430"	"00111160"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111431"	"00111123"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111432"	"00111124"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111433"	"00111126"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111434"	"00111127"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111435"	"00111128"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111436"	"00111129"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA;MCA;SEQ"	"DNA"	""	""
"0000111437"	"00111130"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111438"	"00111131"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111439"	"00111132"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111440"	"00111133"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111441"	"00111134"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111442"	"00111135"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111443"	"00111136"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111444"	"00111138"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111445"	"00111139"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111446"	"00111140"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111447"	"00111141"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111448"	"00111142"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111449"	"00111143"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111450"	"00111144"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111451"	"00111145"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111452"	"00111146"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111453"	"00111147"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111454"	"00111148"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111455"	"00111149"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111456"	"00111150"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111457"	"00111151"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111458"	"00111152"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111459"	"00111153"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111460"	"00111154"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111461"	"00111164"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111462"	"00110917"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111463"	"00110918"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111464"	"00111165"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111465"	"00110919"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111466"	"00110920"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111467"	"00110921"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111468"	"00110922"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111469"	"00110923"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111470"	"00110924"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111471"	"00110925"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111472"	"00111156"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111473"	"00110926"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111474"	"00110928"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111475"	"00110929"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111476"	"00110930"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111477"	"00111158"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111478"	"00110931"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111479"	"00110932"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111480"	"00110933"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111481"	"00110935"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111482"	"00110936"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111483"	"00110937"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111484"	"00110938"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111485"	"00110939"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111486"	"00111162"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111487"	"00110940"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111488"	"00110941"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111489"	"00110942"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111490"	"00110944"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111491"	"00110945"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111492"	"00110946"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111493"	"00110947"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111494"	"00110948"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111495"	"00110950"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111496"	"00110951"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111497"	"00110952"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111498"	"00110953"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111499"	"00110954"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111500"	"00110955"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111501"	"00110956"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111502"	"00110957"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111503"	"00110958"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111504"	"00110959"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111505"	"00110960"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA;MCA;SEQ"	"DNA"	""	""
"0000111506"	"00110961"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111507"	"00110962"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111508"	"00110963"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111509"	"00110964"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111510"	"00110965"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111511"	"00110966"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111512"	"00110967"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111513"	"00110968"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111514"	"00111169"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111515"	"00110969"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111516"	"00110970"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111517"	"00110971"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111518"	"00110972"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111519"	"00110974"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111520"	"00110975"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111521"	"00110976"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111522"	"00110977"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111523"	"00110978"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111524"	"00110979"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111525"	"00110980"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111526"	"00110981"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111527"	"00110982"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111528"	"00110983"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111529"	"00111157"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111530"	"00110984"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111531"	"00110985"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111532"	"00110986"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA;MCA;SEQ"	"DNA"	""	""
"0000111533"	"00110988"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111534"	"00110989"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111535"	"00110990"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111536"	"00110991"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111537"	"00110992"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111538"	"00110993"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111539"	"00110994"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111540"	"00110996"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111541"	"00110997"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111542"	"00110998"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA"	"DNA"	""	""
"0000111543"	"00110999"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111544"	"00111000"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111545"	"00111001"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111546"	"00111002"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111547"	"00111003"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111548"	"00111004"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111549"	"00111005"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111550"	"00111007"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111551"	"00111008"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111552"	"00111009"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111553"	"00111010"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111554"	"00111155"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111555"	"00111011"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111556"	"00111012"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111557"	"00111013"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111558"	"00111014"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111559"	"00111016"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111560"	"00111017"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111561"	"00111018"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111562"	"00111019"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111563"	"00111020"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111564"	"00111021"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111565"	"00111022"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111566"	"00111023"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111567"	"00111024"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111568"	"00111025"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA"	"DNA"	""	""
"0000111569"	"00111026"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111570"	"00111027"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111571"	"00111028"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111572"	"00111029"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111573"	"00111030"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111574"	"00111031"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111575"	"00111032"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111576"	"00111033"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111577"	"00111034"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111578"	"00111035"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111579"	"00111036"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111580"	"00111037"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111581"	"00111039"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA;MCA;SEQ"	"DNA"	""	""
"0000111582"	"00111040"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	"00006"	"2011-01-24 22:20:59"	"SEQ"	"DNA"	""	""
"0000111583"	"00111041"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111584"	"00111042"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111585"	"00111043"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111586"	"00111044"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111587"	"00111045"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111588"	"00111046"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111589"	"00111048"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111590"	"00111049"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111591"	"00111050"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111592"	"00111051"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111593"	"00111052"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111594"	"00111053"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111595"	"00111055"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111596"	"00111056"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111597"	"00111057"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111598"	"00111058"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111599"	"00111059"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111600"	"00111060"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111601"	"00111062"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111602"	"00111063"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111603"	"00111064"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111604"	"00111065"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111605"	"00111066"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111606"	"00111067"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111607"	"00111068"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111608"	"00111070"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111609"	"00111071"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111610"	"00111072"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA"	"DNA"	""	""
"0000111611"	"00111073"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"MCA;SEQ"	"DNA"	""	""
"0000111612"	"00111074"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111613"	"00111075"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111614"	"00111077"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111615"	"00111078"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA"	"DNA"	""	""
"0000111616"	"00111079"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111617"	"00111080"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111618"	"00111081"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111619"	"00111082"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111620"	"00111083"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111621"	"00111084"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA;MCA;SEQ"	"DNA"	""	""
"0000111622"	"00111086"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111623"	"00111087"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SSCA;MCA;SEQ"	"DNA"	""	""
"0000111624"	"00111088"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111625"	"00111089"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111626"	"00111090"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SEQ"	"DNA"	""	""
"0000111627"	"00111092"	"1"	"00006"	"00006"	"2009-04-05 16:35:10"	""	""	"SEQ"	"DNA"	""	""
"0000111628"	"00111093"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111629"	"00111094"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111630"	"00111095"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111631"	"00111096"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111632"	"00111097"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111634"	"00111098"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111635"	"00111099"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"SEQ"	"DNA"	""	""
"0000111636"	"00111101"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000111637"	"00111102"	"1"	"00006"	"00006"	"2011-10-08 00:34:47"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000152848"	"00151993"	"1"	"01741"	"01741"	"2018-01-30 11:13:29"	""	""	"SEQ"	"DNA"	""	""
"0000226531"	"00225452"	"1"	"00006"	"00006"	"2019-02-16 14:29:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000249390"	"00248285"	"1"	"00006"	"00006"	"2019-07-21 09:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000249391"	"00248286"	"1"	"00006"	"00006"	"2019-07-21 09:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000249392"	"00248287"	"1"	"00006"	"00006"	"2019-07-21 09:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000249393"	"00248288"	"1"	"00006"	"00006"	"2019-07-21 09:07:39"	""	""	"SEQ"	"DNA"	""	""
"0000275304"	"00274149"	"1"	"00006"	"00006"	"2019-12-24 17:05:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000275329"	"00274174"	"1"	"00006"	"00006"	"2019-12-24 17:05:37"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000293727"	"00292559"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293728"	"00292560"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293729"	"00292561"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000293730"	"00292562"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000307035"	"00305904"	"1"	"03695"	"03695"	"2020-07-05 15:37:34"	""	""	"SEQ-NG"	"DNA"	""	""
"0000307336"	"00306202"	"1"	"03695"	"03695"	"2020-07-11 08:03:14"	""	""	"SEQ-NG"	"DNA"	""	""
"0000437071"	"00435592"	"1"	"04541"	"04541"	"2023-08-05 01:44:17"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000437072"	"00435592"	"1"	"04541"	"04541"	"2023-08-05 02:16:52"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000437073"	"00435592"	"1"	"04541"	"04541"	"2023-08-05 02:21:54"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000437074"	"00435593"	"1"	"04541"	"04541"	"2023-08-05 02:28:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000451945"	"00450348"	"1"	"00006"	"00006"	"2024-05-25 13:24:39"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 15
"{{screeningid}}"	"{{geneid}}"
"0000152848"	"CPS1"
"0000226531"	"TONSL"
"0000249390"	"CPS1"
"0000249391"	"CPS1"
"0000249392"	"CPS1"
"0000249393"	"CPS1"
"0000275304"	"CPS1"
"0000275329"	"CPS1"
"0000307035"	"CPS1"
"0000307336"	"CPS1"
"0000437071"	"CPS1"
"0000437072"	"CPS1"
"0000437073"	"CPS1"
"0000437074"	"CPS1"
"0000451945"	"CPS1"


## 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 = 462
"{{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}}"
"0000178444"	"1"	"90"	"2"	"211438025"	"211438025"	"subst"	"0"	"00006"	"CPS1_000024"	"g.211438025C>T"	""	"{PMID:Kurokawa 2007:17310273}, {OMIM608307:0003}"	""	"130C>T"	""	"Germline"	""	""	"0"	""	""	"g.210573301C>T"	""	"pathogenic"	""
"0000178445"	"1"	"90"	"2"	"211464265"	"211464265"	"del"	"0"	"00006"	"CPS1_000030"	"g.211464265del"	""	"{PMID:Kurokawa 2007:17310273}, {OMIM608307:0008}"	""	"1528delG (fsX)"	"undetectable hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210599541del"	""	"pathogenic"	""
"0000178446"	"2"	"90"	"2"	"211464265"	"211464265"	"del"	"0"	"00006"	"CPS1_000030"	"g.211464265del"	""	"{PMID:Kurokawa 2007:17310273}, {OMIM608307:0008}"	""	"1528delG (fsX)"	"undetectable hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210599541del"	""	"pathogenic"	""
"0000178447"	"1"	"90"	"2"	"211464265"	"211464265"	"del"	"0"	"00006"	"CPS1_000030"	"g.211464265del"	""	"{PMID:Wakutani 2004:15617192}, {PMID:Kurokawa 2007:17310273}, {OMIM608307:0008}"	""	"1528delG (fsX)"	"7% hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210599541del"	""	"pathogenic"	""
"0000178448"	"2"	"90"	"2"	"211464265"	"211464265"	"del"	"0"	"00006"	"CPS1_000030"	"g.211464265del"	""	"{PMID:Wakutani 2004:15617192}"	""	"1528delG (fsX)"	"7% hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210599541del"	""	"pathogenic"	""
"0000178449"	"1"	"90"	"2"	"211464265"	"211464265"	"del"	"0"	"00006"	"CPS1_000030"	"g.211464265del"	""	"{PMID:Wakutani 2004:15617192}"	""	"1528delG (fsX)"	""	"Germline"	""	""	"0"	""	""	"g.210599541del"	""	"pathogenic"	""
"0000178450"	"1"	"90"	"2"	"211464265"	"211464265"	"del"	"0"	"00006"	"CPS1_000030"	"g.211464265del"	""	"{PMID:Aoshima 2001:11536261}"	""	"1528delG (fsX)"	"6% hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210599541del"	""	"pathogenic"	""
"0000178451"	"1"	"90"	"2"	"211464265"	"211464265"	"del"	"0"	"00006"	"CPS1_000030"	"g.211464265del"	""	"{PMID:Kurokawa 2007:17310273}, {OMIM608307:0008}"	""	"1528delG (fsX)"	"17% hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210599541del"	""	"pathogenic"	""
"0000178452"	"0"	"90"	"2"	"211464286"	"211464286"	"subst"	"0"	"00006"	"CPS1_000230"	"g.211464286G>T"	""	"{PMID:Häberle 2011:21120950}"	""	"1549+1G>T (V474EfsX15)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210599562G>T"	""	"pathogenic"	""
"0000178453"	"0"	"90"	"2"	"211465321"	"211465321"	"subst"	"0"	"00006"	"CPS1_000121"	"g.211465321T>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1592T>A (V531E)"	""	"Germline"	""	""	"0"	""	""	"g.210600597T>A"	""	"pathogenic"	""
"0000178454"	"0"	"90"	"2"	"211465321"	"211465321"	"subst"	"0"	"00006"	"CPS1_000122"	"g.211465321T>G"	""	"{PMID:Häberle 2011:21120950}"	""	"1592T>G (V531G)"	""	"Germline"	""	""	"0"	""	""	"g.210600597T>G"	""	"pathogenic"	""
"0000178455"	"1"	"90"	"2"	"211438025"	"211438025"	"subst"	"0"	"00006"	"CPS1_000024"	"g.211438025C>T"	""	"{PMID:Kurokawa 2007:17310273}, {OMIM608307:0003}"	""	"130C>T"	""	"Germline"	""	""	"0"	""	""	"g.210573301C>T"	""	"pathogenic"	""
"0000178456"	"0"	"90"	"2"	"211465344"	"211465344"	"subst"	"0"	"00006"	"CPS1_000123"	"g.211465344G>T"	""	"{PMID:Häberle 2011:21120950}"	""	"1615G>T (E539X)"	""	"Germline"	""	""	"0"	""	""	"g.210600620G>T"	""	"pathogenic"	""
"0000178457"	"11"	"90"	"2"	"211465360"	"211465360"	"subst"	"8.15854E-6"	"00006"	"CPS1_000023"	"g.211465360C>T"	""	"{PMID:Finckh 1998:08486760}, {OMIM608307:0002}"	""	"1631C>T (Thr544Met)"	"CpG dinucleotide; sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.210600636C>T"	""	"pathogenic"	""
"0000178458"	"21"	"90"	"2"	"211465360"	"211465360"	"subst"	"8.15854E-6"	"00006"	"CPS1_000023"	"g.211465360C>T"	""	"{PMID:Finckh 1998:08486760}, {OMIM608307:0002}"	""	"1631C>T (Thr544Met)"	"CpG dinucleotide; sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.210600636C>T"	""	"pathogenic"	""
"0000178459"	"0"	"90"	"2"	"211465360"	"211465360"	"subst"	"8.15854E-6"	"00006"	"CPS1_000023"	"g.211465360C>T"	""	"{PMID:Yefimenko 2004:15876373}"	""	"1631C>T (T544M)"	"corresponding variant in E.coli CPS abolishes carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210600636C>T"	""	"NA"	""
"0000178460"	"0"	"90"	"2"	"211465360"	"211465360"	"subst"	"8.15854E-6"	"00006"	"CPS1_000023"	"g.211465360C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"1631C>T (T544M)"	"CpG dinucleotide; undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210600636C>T"	""	"pathogenic"	""
"0000178461"	"0"	"90"	"2"	"211466977"	"211466977"	"subst"	"0"	"00006"	"CPS1_000124"	"g.211466977C>T"	""	"{PMID:Stapleton 1996:08916922}"	""	"1759C>T (R587C)"	"corresponding variant in E.coli CPS (Arg169Ala) virtually abolish carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210602253C>T"	""	"NA"	""
"0000178462"	"0"	"90"	"2"	"211466977"	"211466977"	"subst"	"0"	"00006"	"CPS1_000124"	"g.211466977C>T"	""	"{PMID:Yefimenko 2004:15876373}"	""	"1759C>T (R587C)"	"corresponding variant in E.coli CPS (Arg169His) virtually abolish carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210602253C>T"	""	"NA"	""
"0000178463"	"0"	"90"	"2"	"211466977"	"211466977"	"subst"	"0"	"00006"	"CPS1_000124"	"g.211466977C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"1759C>T (R587C)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210602253C>T"	""	"pathogenic"	""
"0000178464"	"1"	"90"	"2"	"211466978"	"211466978"	"subst"	"0"	"00006"	"CPS1_000041"	"g.211466978G>A"	""	"{PMID:Kurokawa 2007:17310273}"	""	"1760G>A (Arg587His)"	""	"Germline"	""	""	"0"	""	""	"g.210602254G>A"	""	"pathogenic"	""
"0000178465"	"1"	"90"	"2"	"211466978"	"211466978"	"subst"	"0"	"00006"	"CPS1_000041"	"g.211466978G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1760G>A (R587H)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210602254G>A"	""	"pathogenic"	""
"0000178466"	"0"	"90"	"2"	"211438049"	"211438055"	"del"	"0"	"00006"	"CPS1_000081"	"g.211438049_211438055del"	""	"{PMID:Häberle 2011:21120950}"	""	"154_160delGATGGAA (D52LfsX3)"	""	"Germline"	""	""	"0"	""	""	"g.210573325_210573331del"	""	"pathogenic"	""
"0000178467"	"2"	"90"	"2"	"211466978"	"211466978"	"subst"	"0"	"00006"	"CPS1_000041"	"g.211466978G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1760G>A (R587H)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210602254G>A"	""	"pathogenic"	""
"0000178468"	"0"	"90"	"2"	"211466978"	"211466978"	"subst"	"0"	"00006"	"CPS1_000041"	"g.211466978G>A"	""	"{PMID:Stapleton 1996:08916922}"	""	"1760G>A (R587H)"	"corresponding variant in E.coli CPS (Arg169Ala) virtually abolish carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210602254G>A"	""	"NA"	""
"0000178469"	"0"	"90"	"2"	"211466978"	"211466978"	"subst"	"0"	"00006"	"CPS1_000041"	"g.211466978G>A"	""	"{PMID:Yefimenko 2004:15876373}"	""	"1760G>A (R587H)"	"corresponding variant in E.coli CPS (Arg169His) virtually abolish carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210602254G>A"	""	"NA"	""
"0000178470"	"0"	"90"	"2"	"211466978"	"211466978"	"subst"	"0"	"00006"	"CPS1_000125"	"g.211466978G>T"	""	"{PMID:Häberle 2011:21120950}"	""	"1760G>T (R587L)"	""	"Germline"	""	""	"0"	""	""	"g.210602254G>T"	""	"pathogenic"	""
"0000178471"	"0"	"90"	"2"	"211466983"	"211466983"	"subst"	"4.07598E-6"	"00006"	"CPS1_000126"	"g.211466983G>A"	""	"{PMID:Eeds 2006:16737834}"	""	"1765G>A (A589T)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210602259G>A"	""	"pathogenic"	""
"0000178472"	"0"	"90"	"2"	"211466988"	"211466988"	"subst"	"0"	"00006"	"CPS1_000127"	"g.211466988T>G"	""	"{PMID:Häberle 2011:21120950}"	""	"1770T>G (Y590X)"	""	"Germline"	""	""	"0"	""	""	"g.210602264T>G"	""	"pathogenic"	""
"0000178473"	"1"	"90"	"2"	"211466995"	"211466995"	"subst"	"0"	"00006"	"CPS1_000042"	"g.211466995G>C"	""	"{PMID:Kurokawa 2007:17310273}"	""	"1777G>C (Gly593Ala)"	"erroneously reported a Gly593Ala"	"Germline"	""	""	"0"	""	""	"g.210602271G>C"	""	"pathogenic"	""
"0000178474"	"0"	"90"	"2"	"211467008"	"211467008"	"subst"	"0"	"00006"	"CPS1_000128"	"g.211467008C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"1790C>T (S597L)"	""	"Germline"	""	""	"0"	""	""	"g.210602284C>T"	""	"pathogenic"	""
"0000178475"	"0"	"90"	"2"	"211469818"	"211469818"	"subst"	"0"	"00006"	"CPS1_000231"	"g.211469818A>G"	""	"{PMID:Eeds 2006:16737834}"	""	"1837-8A>G (A613FfsX25)"	"affects acceptor splice site"	"Germline"	""	""	"0"	""	""	"g.210605094A>G"	""	"pathogenic"	""
"0000178476"	"0"	"90"	"2"	"211469853"	"211469853"	"subst"	"0"	"00006"	"CPS1_000129"	"g.211469853G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1864G>A (V622M)"	""	"Germline"	""	""	"0"	""	""	"g.210605129G>A"	""	"pathogenic"	""
"0000178477"	"0"	"90"	"2"	"211438068"	"211438068"	"subst"	"0"	"00006"	"CPS1_000082"	"g.211438068G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"173G>A (G58D)"	""	"Germline"	""	""	"0"	""	""	"g.210573344G>A"	""	"pathogenic"	""
"0000178478"	"1"	"90"	"2"	"211469872"	"211469872"	"subst"	"4.07644E-6"	"00006"	"CPS1_000001"	"g.211469872G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1883G>A (G628D)"	""	"Germline"	""	""	"0"	""	""	"g.210605148G>A"	""	"pathogenic"	""
"0000178479"	"2"	"90"	"2"	"211469872"	"211469872"	"subst"	"4.07644E-6"	"00006"	"CPS1_000001"	"g.211469872G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1883G>A (G628D)"	""	"Germline"	""	""	"0"	""	""	"g.210605148G>A"	""	"pathogenic"	""
"0000178480"	"0"	"90"	"2"	"211469884"	"211469884"	"subst"	"0"	"00006"	"CPS1_000130"	"g.211469884T>G"	""	"{PMID:Häberle 2011:21120950}"	""	"1895T>G (I632R)"	""	"Germline"	""	""	"0"	""	""	"g.210605160T>G"	""	"pathogenic"	""
"0000178481"	"0"	"90"	"2"	"211469902"	"211469902"	"subst"	"0"	"00006"	"CPS1_000131"	"g.211469902G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"1913G>C (R638P)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210605178G>C"	""	"pathogenic"	""
"0000178482"	"0"	"90"	"2"	"211469907"	"211469907"	"subst"	"0.00034621"	"00006"	"CPS1_000132"	"g.211469907G>T"	""	"{PMID:Eeds 2006:16737834}"	""	"1918G>T (A640S)"	""	"Germline"	""	""	"0"	""	""	"g.210605183G>T"	""	"pathogenic"	""
"0000178483"	"0"	"90"	"2"	"211469932"	"211469932"	"subst"	"0"	"00006"	"CPS1_000133"	"g.211469932G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1943G>A (C648Y)"	""	"Germline"	""	""	"0"	""	""	"g.210605208G>A"	""	"pathogenic"	""
"0000178484"	"1"	"90"	"2"	"211469940"	"211469940"	"subst"	"0"	"00006"	"CPS1_000043"	"g.211469940G>A"	""	"{PMID:Kurokawa 2007:17310273}"	""	"1951G>A (Glu651Lys)"	"6% liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210605216G>A"	""	"pathogenic"	""
"0000178485"	"0"	"90"	"2"	"211469950"	"211469950"	"subst"	"0"	"00006"	"CPS1_000134"	"g.211469950A>T"	""	"{PMID:Häberle 2011:21120950}"	""	"1961A>T (D654V)"	""	"Germline"	""	""	"0"	""	""	"g.210605226A>T"	""	"pathogenic"	""
"0000178486"	"0"	"90"	"2"	"211469963"	"211469963"	"del"	"0"	"00006"	"CPS1_000135"	"g.211469963del"	""	"{PMID:Häberle 2011:21120950}"	""	"1974delT (H659TfsX22)"	""	"Germline"	""	""	"0"	""	""	"g.210605239del"	""	"pathogenic"	""
"0000178487"	"0"	"90"	"2"	"211469972"	"211469972"	"subst"	"0"	"00006"	"CPS1_000232"	"g.211469972T>G"	""	"{PMID:Häberle 2011:21120950}"	""	"1981+2T>G (A613VfsX20)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210605248T>G"	""	"pathogenic"	""
"0000178488"	"0"	"90"	"2"	"211438089"	"211438089"	"subst"	"2.43799E-5"	"00006"	"CPS1_000083"	"g.211438089C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"194C>T (S65F)"	""	"Germline"	""	""	"0"	""	""	"g.210573365C>T"	""	"pathogenic"	""
"0000178489"	"2"	"90"	"2"	"211471494"	"211471494"	"subst"	"0"	"00006"	"CPS1_000044"	"g.211471494A>T"	""	"{PMID:Kurokawa 2007:17310273}"	""	"2021A>T (Asn674Ile)"	"17% hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210606770A>T"	""	"pathogenic"	""
"0000178490"	"0"	"90"	"2"	"211471495"	"211471495"	"subst"	"0"	"00006"	"CPS1_000136"	"g.211471495T>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2022T>A (N674K)"	""	"Germline"	""	""	"0"	""	""	"g.210606771T>A"	""	"pathogenic"	""
"0000178491"	"0"	"90"	"2"	"211471506"	"211471506"	"subst"	"0"	"00006"	"CPS1_000137"	"g.211471506A>C"	""	"{PMID:Pekkala 2010:20578160}"	""	"2033A>C (Q678P)"	"CPSI expression studies suggests misfolding, with 6-fold decreased activity of well-folded fraction"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210606782A>C"	""	"NA"	""
"0000178492"	"0"	"90"	"2"	"211471506"	"211471506"	"subst"	"0"	"00006"	"CPS1_000137"	"g.211471506A>C"	""	"{PMID:Pekkala 2010:20578160}"	""	"2033A>C (Q678P)"	"<2% intestinal CPS activity"	"Germline"	""	""	"0"	""	""	"g.210606782A>C"	""	"pathogenic"	""
"0000178493"	"0"	"90"	"2"	"211471566"	"211471566"	"subst"	"0"	"00006"	"CPS1_000138"	"g.211471566A>G"	""	"{PMID:Stapleton 1996:08916922}"	""	"2093A>G (N698S)"	"corresponding variant in E.coli CPS (N283A) abolishes carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210606842A>G"	""	"NA"	""
"0000178494"	"0"	"90"	"2"	"211471566"	"211471566"	"subst"	"0"	"00006"	"CPS1_000138"	"g.211471566A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"2093A>G (N698S)"	""	"Germline"	""	""	"0"	""	""	"g.210606842A>G"	""	"pathogenic"	""
"0000178495"	"0"	"90"	"2"	"211471590"	"211471624"	"dup"	"0"	"00006"	"CPS1_000139"	"g.211471590_211471624dup"	""	"{PMID:Häberle 2003:12655559}"	""	"2115ins35bp (fs 721X, A717AfsX28)"	""	"Germline"	""	""	"0"	""	""	"g.210606866_210606900dup"	""	"pathogenic"	""
"0000178496"	"0"	"90"	"2"	"211471621"	"211471621"	"subst"	"2.03904E-5"	"00006"	"CPS1_000140"	"g.211471621T>A"	""	"{PMID:Stapleton 1996:08916922}"	""	"2148T>A (N716K)"	"corresponding variants in E.coli CPS (N301D) virtually abolish carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210606897T>A"	""	"NA"	""
"0000178497"	"0"	"90"	"2"	"211471621"	"211471621"	"subst"	"2.03904E-5"	"00006"	"CPS1_000140"	"g.211471621T>A"	""	"{PMID:Yefimenko 2004:15876373}"	""	"2148T>A (N716K)"	"corresponding variants in E.coli CPS (N301H) virtually abolish carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210606897T>A"	""	"NA"	""
"0000178498"	"0"	"90"	"2"	"211471621"	"211471621"	"subst"	"2.03904E-5"	"00006"	"CPS1_000140"	"g.211471621T>A"	""	"{PMID:Summar 1998:09686343}, {PMID:Eeds 2006:16737834}"	""	"2148T>A (N716K)"	""	"Germline"	""	""	"0"	""	""	"g.210606897T>A"	""	"pathogenic"	""
"0000178499"	"0"	"90"	"2"	"211438107"	"211438107"	"subst"	"0"	"00006"	"CPS1_000084"	"g.211438107T>G"	""	"{PMID:Häberle 2011:21120950}"	""	"212T>G (V71G)"	""	"Germline"	""	""	"0"	""	""	"g.210573383T>G"	""	"pathogenic"	""
"0000178500"	"0"	"90"	"2"	"211471621"	"211471621"	"subst"	"2.03904E-5"	"00006"	"CPS1_000140"	"g.211471621T>A"	""	"{PMID:Summar 1998:09686343}, {PMID:Eeds 2006:16737834}"	""	"2148T>A (N716K)"	""	"Germline"	""	""	"0"	""	""	"g.210606897T>A"	""	"pathogenic"	""
"0000178501"	"0"	"90"	"2"	"211471621"	"211471621"	"subst"	"2.03904E-5"	"00006"	"CPS1_000140"	"g.211471621T>A"	""	"{PMID:Summar 1998:09686343}, {PMID:Eeds 2006:16737834}"	""	"2148T>A (N716K)"	""	"Germline"	""	""	"0"	""	""	"g.210606897T>A"	""	"pathogenic"	""
"0000178502"	"0"	"90"	"2"	"211471621"	"211471621"	"subst"	"2.03904E-5"	"00006"	"CPS1_000140"	"g.211471621T>A"	""	"{PMID:Summar 1998:09686343}, {PMID:Eeds 2006:16737834}"	""	"2148T>A (N716K)"	""	"Germline"	""	""	"0"	""	""	"g.210606897T>A"	""	"pathogenic"	""
"0000178503"	"0"	"90"	"2"	"211471626"	"211471626"	"subst"	"0"	"00006"	"CPS1_000141"	"g.211471626G>A"	""	"{PMID:Stapleton 1996:08916922}"	""	"2153G>A (R718K)"	"corresponding variant in E.coli CPS (R303Q) virtually abolishes carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210606902G>A"	""	"NA"	""
"0000178504"	"0"	"90"	"2"	"211471626"	"211471626"	"subst"	"0"	"00006"	"CPS1_000141"	"g.211471626G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2153G>A (R718K)"	""	"Germline"	""	""	"0"	""	""	"g.210606902G>A"	""	"pathogenic"	""
"0000178505"	"0"	"90"	"2"	"211471634"	"211471634"	"subst"	"4.0816E-6"	"00006"	"CPS1_000142"	"g.211471634C>T"	""	"{PMID:Häberle 2003:12655559}"	""	"2161C>T (R721X)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210606910C>T"	""	"pathogenic"	""
"0000178506"	"0"	"90"	"2"	"211471635"	"211471635"	"subst"	"1.63271E-5"	"00006"	"CPS1_000143"	"g.211471635G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2162G>A (R721Q)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210606911G>A"	""	"pathogenic"	""
"0000178507"	"0"	"90"	"2"	"211471643"	"211471643"	"subst"	"0"	"00006"	"CPS1_000145"	"g.211471643G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"2170G>C (A724P)"	""	"Germline"	""	""	"0"	""	""	"g.210606919G>C"	""	"pathogenic"	""
"0000178508"	"0"	"90"	"2"	"211471643"	"211471646"	"delins"	"0"	"00006"	"CPS1_000144"	"g.211471643_211471646delinsCCA"	""	"{PMID:Rapp 2001:11388595}"	""	"2170_2173delGCTCinsCCA (A724PfsX27)"	""	"Germline"	""	""	"0"	""	""	"g.210606919_210606922delinsCCA"	""	"pathogenic"	""
"0000178509"	"0"	"90"	"2"	"211471646"	"211471646"	"del"	"0"	"00006"	"CPS1_000146"	"g.211471646del"	""	"{PMID:Häberle 2011:21120950}"	""	"2173delC (L725WfsX19)"	""	"Germline"	""	""	"0"	""	""	"g.210606922del"	""	"pathogenic"	""
"0000178510"	"1"	"90"	"2"	"211438131"	"211438131"	"subst"	"4.06736E-6"	"00006"	"CPS1_000038"	"g.211438131G>A"	""	"{PMID:Kurokawa 2007:17310273}"	""	"236G>A (Gly79Glu)"	"last nucleotide exon, donor splice site possibly affected"	"Germline"	""	""	"0"	""	""	"g.210573407G>A"	""	"pathogenic"	""
"0000178511"	"0"	"90"	"2"	"211471649"	"211471649"	"subst"	"0"	"00006"	"CPS1_000147"	"g.211471649G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2176G>A (A726T)"	""	"Germline"	""	""	"0"	""	""	"g.210606925G>A"	""	"pathogenic"	""
"0000178513"	"1"	"10"	"2"	"211473070"	"211473070"	"subst"	"0.126215"	"00006"	"CPS1_000007"	"g.211473070G>T"	"0.138"	"{PMID:Mitchell 2009:18666241}"	""	"2193-15G>T"	""	"Germline"	""	""	"0"	""	""	"g.210608346G>T"	""	"benign"	""
"0000178514"	"0"	"90"	"2"	"211473119"	"211473119"	"del"	"0"	"00006"	"CPS1_000148"	"g.211473119del"	""	"{PMID:Häberle 2011:21120950}"	""	"2227delC (L743X)"	""	"Germline"	""	""	"0"	""	""	"g.210608395del"	""	"pathogenic"	""
"0000178515"	"0"	"90"	"2"	"211473144"	"211473144"	"del"	"0"	"00006"	"CPS1_000149"	"g.211473144del"	""	"{PMID:Häberle 2011:21120950}"	""	"2252delA (K751RfsX42)"	""	"Germline"	""	""	"0"	""	""	"g.210608420del"	""	"pathogenic"	""
"0000178517"	"1"	"10"	"2"	"211473157"	"211473157"	"subst"	"0.0125945"	"00006"	"CPS1_000008"	"g.211473157C>A"	"1/94"	"{PMID:Mitchell 2009:18666241}"	""	"2265C>A (Ser755Ser)"	""	"Germline"	""	""	"0"	""	""	"g.210608433C>A"	""	"benign"	""
"0000178518"	"0"	"90"	"2"	"211473175"	"211473179"	"delins"	"0"	"00006"	"CPS1_000150"	"g.211473175_211473179delinsA"	""	"{PMID:Häberle 2011:21120950}"	""	"2283_2287delTTTTGinsA (C761X)"	""	"Germline"	""	""	"0"	""	""	"g.210608451_210608455delinsA"	""	"pathogenic"	""
"0000178519"	"0"	"90"	"2"	"211473192"	"211473192"	"subst"	"0"	"00006"	"CPS1_000151"	"g.211473192A>T"	""	"{PMID:Häberle 2011:21120950}"	""	"2300A>T (D767V)"	""	"Germline"	""	""	"0"	""	""	"g.210608468A>T"	""	"pathogenic"	""
"0000178520"	"0"	"90"	"2"	"211473213"	"211473213"	"subst"	"0"	"00006"	"CPS1_000152"	"g.211473213C>T"	""	"{PMID:Pekkala 2010:20578160}"	""	"2321C>T (P774L)"	"CPSI expression studies reveal complete enzyme inactivation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210608489C>T"	""	"NA"	""
"0000178521"	"2"	"90"	"2"	"211438137"	"211438137"	"subst"	"0"	"00006"	"CPS1_000046"	"g.211438137T>C"	""	"{PMID:Kurokawa 2007:17310273}"	""	"IVS2+6T>C"	""	"Germline"	""	""	"0"	""	""	"g.210573413T>C"	""	"pathogenic"	""
"0000178522"	"0"	"90"	"2"	"211473213"	"211473213"	"subst"	"0"	"00006"	"CPS1_000152"	"g.211473213C>T"	""	"{PMID:Pekkala 2010:20578160}"	""	"2321C>T (P774L)"	"<5% liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210608489C>T"	""	"pathogenic"	""
"0000178523"	"0"	"90"	"2"	"211473230"	"211473230"	"del"	"0"	"00006"	"CPS1_000153"	"g.211473230del"	""	"{PMID:Eeds 2006:16737834}"	""	"2338delC (R780VfsX13)"	""	"Germline"	""	""	"0"	""	""	"g.210608506del"	""	"pathogenic"	""
"0000178524"	"2"	"90"	"2"	"211473231"	"211473231"	"subst"	"1.62856E-5"	"00006"	"CPS1_000045"	"g.211473231G>A"	""	"{PMID:Kurokawa 2007:17310273}"	""	"2339G>A (Arg780His)"	"6% liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210608507G>A"	""	"pathogenic"	""
"0000178525"	"0"	"90"	"2"	"211473231"	"211473231"	"subst"	"1.62856E-5"	"00006"	"CPS1_000045"	"g.211473231G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2339G>A (R780H)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210608507G>A"	""	"pathogenic"	""
"0000178526"	"1"	"90"	"2"	"211473251"	"211473251"	"subst"	"8.14458E-6"	"00006"	"CPS1_000034"	"g.211473251C>T"	""	"{PMID:Kurokawa 2007:17310273}, {OMIM608307:0009}"	""	"2359C>T (Arg787X)"	""	"Germline"	""	""	"0"	""	""	"g.210608527C>T"	""	"pathogenic"	""
"0000178527"	"1"	"90"	"2"	"211473251"	"211473251"	"subst"	"8.14458E-6"	"00006"	"CPS1_000034"	"g.211473251C>T"	""	"{PMID:Kurokawa 2007:17310273}, {OMIM608307:0009}"	""	"2359C>T (Arg787X)"	""	"Germline"	""	""	"0"	""	""	"g.210608527C>T"	""	"pathogenic"	""
"0000178528"	"0"	"90"	"2"	"211473251"	"211473251"	"subst"	"8.14458E-6"	"00006"	"CPS1_000034"	"g.211473251C>T"	""	"{PMID:Rapp 2001:11388595}"	""	"2359C>T (R787X)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210608527C>T"	""	"pathogenic"	""
"0000178529"	"0"	"90"	"2"	"211473268"	"211473268"	"subst"	"0"	"00006"	"CPS1_000154"	"g.211473268G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"2376G>C (M792I)"	""	"Germline"	""	""	"0"	""	""	"g.210608544G>C"	""	"pathogenic"	""
"0000178530"	"0"	"90"	"2"	"211476854"	"211476854"	"del"	"0"	"00006"	"CPS1_000155"	"g.211476854del"	""	"{PMID:Häberle 2011:21120950}"	""	"2404delG (G802VfsX19)"	""	"Germline"	""	""	"0"	""	""	"g.210612130del"	""	"pathogenic"	""
"0000178531"	"0"	"90"	"2"	"211476856"	"211476856"	"subst"	"4.06898E-6"	"00006"	"CPS1_000156"	"g.211476856C>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2407C>A (R803S)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210612132C>A"	""	"pathogenic"	""
"0000178532"	"1"	"90"	"2"	"211441092"	"211441092"	"subst"	"0"	"00006"	"CPS1_000062"	"g.211441092C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"259C>T (P87S)"	""	"Germline"	""	""	"0"	""	""	"g.210576368C>T"	""	"pathogenic"	""
"0000178533"	"1"	"90"	"2"	"211476856"	"211476856"	"subst"	"2.84828E-5"	"00006"	"CPS1_000067"	"g.211476856C>G"	""	"{PMID:Ono 2009:19167850}"	""	"2407C>G (R803G)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210612132C>G"	""	"pathogenic"	""
"0000178534"	"0"	"90"	"2"	"211476856"	"211476856"	"subst"	"2.84828E-5"	"00006"	"CPS1_000067"	"g.211476856C>G"	""	"{PMID:Häberle 2011:21120950}"	""	"2407C>G (R803G)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210612132C>G"	""	"pathogenic"	""
"0000178535"	"1"	"90"	"2"	"211476856"	"211476856"	"subst"	"8.13795E-6"	"00006"	"CPS1_000068"	"g.211476856C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"2407C>T (R803C)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210612132C>T"	""	"pathogenic"	""
"0000178536"	"0"	"90"	"2"	"211476862"	"211476862"	"subst"	"0"	"00006"	"CPS1_000157"	"g.211476862T>C"	""	"{PMID:Eeds 2006:16737834}"	""	"2413T>C (F805L)"	""	"Germline"	""	""	"0"	""	""	"g.210612138T>C"	""	"pathogenic"	""
"0000178537"	"0"	"90"	"2"	"211476863"	"211476863"	"subst"	"0"	"00006"	"CPS1_000158"	"g.211476863T>C"	""	"{PMID:Häberle 2011:21120950}"	""	"2414T>C (F805S)"	""	"Germline"	""	""	"0"	""	""	"g.210612139T>C"	""	"pathogenic"	""
"0000178538"	"0"	"90"	"2"	"211476878"	"211476878"	"subst"	"0"	"00006"	"CPS1_000159"	"g.211476878A>G"	""	"{PMID:Funghini 2003:12955727}"	""	"2429A>G (Q810R)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210612154A>G"	""	"pathogenic"	""
"0000178539"	"0"	"90"	"2"	"211476878"	"211476878"	"subst"	"0"	"00006"	"CPS1_000159"	"g.211476878A>G"	""	"{PMID:Eeds 2006:16737834}"	""	"2429A>G (Q810R)"	""	"Germline"	""	""	"0"	""	""	"g.210612154A>G"	""	"pathogenic"	""
"0000178540"	"1"	"90"	"2"	"211476889"	"211476889"	"subst"	"4.06908E-6"	"00006"	"CPS1_000069"	"g.211476889C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"2440C>T (R814W)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210612165C>T"	""	"pathogenic"	""
"0000178541"	"2"	"90"	"2"	"211476889"	"211476889"	"subst"	"4.06908E-6"	"00006"	"CPS1_000069"	"g.211476889C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"2440C>T (R814W)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210612165C>T"	""	"pathogenic"	""
"0000178542"	"0"	"90"	"2"	"211476895"	"211476895"	"subst"	"0"	"00006"	"CPS1_000160"	"g.211476895T>C"	""	"{PMID:Häberle 2011:21120950}"	""	"2446T>C (C816R)"	""	"Germline"	""	""	"0"	""	""	"g.210612171T>C"	""	"pathogenic"	""
"0000178543"	"2"	"90"	"2"	"211441092"	"211441092"	"subst"	"0"	"00006"	"CPS1_000062"	"g.211441092C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"259C>T (R803C)"	""	"Germline"	""	""	"0"	""	""	"g.210576368C>T"	""	"pathogenic"	""
"0000178544"	"1"	"10"	"2"	"211476897"	"211476897"	"subst"	"0.0187677"	"00006"	"CPS1_000009"	"g.211476897C>T"	"3/94"	"{PMID:Mitchell 2009:18666241}"	""	"2448C>T (Cys816Cys )"	""	"Germline"	""	""	"0"	""	""	"g.210612173C>T"	""	"benign"	""
"0000178545"	"2"	"90"	"2"	"211476942"	"211476943"	"ins"	"0"	"00006"	"CPS1_000048"	"g.211476942_211476943insT"	""	"{PMID:Kurokawa 2007:17310273}"	""	"2494insT (fsX)"	""	"Germline"	""	""	"0"	""	""	"g.210612218_210612219insT"	""	"pathogenic"	""
"0000178546"	"2"	"90"	"2"	"211476943"	"211476943"	"delins"	"0"	"00006"	"CPS1_000049"	"g.211476943delinsAA"	""	"{PMID:Kurokawa 2007:17310273}"	""	"2494delGinsAA (fsX)"	""	"Germline"	""	""	"0"	""	""	"g.210612219delinsAA"	""	"pathogenic"	""
"0000178547"	"1"	"70"	"2"	"211476977"	"211476977"	"subst"	"0"	"00006"	"CPS1_000066"	"g.211476977T>C"	""	"{PMID:Häberle 2003:12655559}"	""	"2528T>C (L843S)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210612253T>C"	""	"likely pathogenic"	""
"0000178548"	"2"	"90"	"2"	"211476997"	"211476997"	"subst"	"1.22197E-5"	"00006"	"CPS1_000050"	"g.211476997C>T"	""	"{PMID:Kurokawa 2007:17310273}"	""	"2548C>T (Arg850Cys)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210612273C>T"	""	"pathogenic"	""
"0000178549"	"1"	"90"	"2"	"211476998"	"211476998"	"subst"	"1.22192E-5"	"00006"	"CPS1_000032"	"g.211476998G>A"	""	"{PMID:Wakutani 2004:15617192}"	""	"2549G>A (Arg850His)"	"undetectable hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210612274G>A"	""	"pathogenic"	""
"0000178550"	"0"	"90"	"2"	"211476998"	"211476998"	"subst"	"1.22192E-5"	"00006"	"CPS1_000032"	"g.211476998G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2549G>A (R850H)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210612274G>A"	""	"pathogenic"	""
"0000178551"	"1"	"70"	"2"	"211481201"	"211481201"	"subst"	"0.00217567"	"00006"	"CPS1_000065"	"g.211481201A>G"	""	"{PMID:Häberle 2003:12655559}"	""	"2623 (K875E)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210616477A>G"	""	"likely pathogenic"	""
"0000178553"	"1"	"10"	"2"	"211481257"	"211481257"	"subst"	"0.577164"	"00006"	"CPS1_000010"	"g.211481257C>G"	"0.266"	"{PMID:Mitchell 2009:18666241}"	""	"2679C>G (Gly893Gly )"	""	"Germline"	""	""	"0"	""	""	"g.210616533C>G"	""	"benign"	""
"0000178555"	"2"	"90"	"2"	"211441092"	"211441092"	"subst"	"0"	"00006"	"CPS1_000062"	"g.211441092C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"259C>T (P87S)"	""	"Germline"	""	""	"0"	""	""	"g.210576368C>T"	""	"pathogenic"	""
"0000178556"	"0"	"90"	"2"	"211502457"	"211502459"	"delins"	"0"	"00006"	"CPS1_000161"	"g.211502457_211502459delinsCC"	""	"{PMID:Häberle 2011:21120950}"	""	"2719_2721delGCAinsCC (A907PfsX25)"	""	"Germline"	""	""	"0"	""	""	"g.210637733_210637735delinsCC"	""	"pathogenic"	""
"0000178557"	"0"	"90"	"2"	"211502470"	"211502470"	"subst"	"0"	"00006"	"CPS1_000162"	"g.211502470G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2732G>A (G911E)"	""	"Germline"	""	""	"0"	""	""	"g.210637746G>A"	""	"pathogenic"	""
"0000178558"	"0"	"90"	"2"	"211502470"	"211502470"	"subst"	"0"	"00006"	"CPS1_000163"	"g.211502470G>T"	""	"{PMID:Eeds 2006:16737834}"	""	"2732G>T (G911V)"	""	"Germline"	""	""	"0"	""	""	"g.210637746G>T"	""	"pathogenic"	""
"0000178559"	"1"	"90"	"2"	"211502476"	"211502476"	"subst"	"8.12605E-6"	"00006"	"CPS1_000074"	"g.211502476C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"2738C>T (S913L)"	""	"Germline"	""	""	"0"	""	""	"g.210637752C>T"	""	"pathogenic"	""
"0000178560"	"0"	"90"	"2"	"211502478"	"211502478"	"subst"	"0"	"00006"	"CPS1_000164"	"g.211502478G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"2740G>C (D914H)"	""	"Germline"	""	""	"0"	""	""	"g.210637754G>C"	""	"pathogenic"	""
"0000178561"	"0"	"90"	"2"	"211502479"	"211502479"	"subst"	"0"	"00006"	"CPS1_000165"	"g.211502479A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"2741A>G (D914G)"	""	"Germline"	""	""	"0"	""	""	"g.210637755A>G"	""	"pathogenic"	""
"0000178562"	"2"	"90"	"2"	"211502490"	"211502490"	"subst"	"0"	"00006"	"CPS1_000031"	"g.211502490T>C"	""	"{PMID:Wakutani 2004:15617192}"	""	"2752T>C (Ser918Pro)"	""	"Germline"	""	""	"0"	""	""	"g.210637766T>C"	""	"pathogenic"	""
"0000178563"	"1"	"90"	"2"	"211502533"	"211502533"	"subst"	"0"	"00006"	"CPS1_000072"	"g.211502533G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"2795G>C (R932T)"	""	"Germline"	""	""	"0"	""	""	"g.210637809G>C"	""	"pathogenic"	""
"0000178564"	"2"	"90"	"2"	"211502533"	"211502533"	"subst"	"0"	"00006"	"CPS1_000072"	"g.211502533G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"2795G>C (R932T)"	""	"Germline"	""	""	"0"	""	""	"g.210637809G>C"	""	"pathogenic"	""
"0000178565"	"2"	"90"	"2"	"211502536"	"211502536"	"del"	"0"	"00006"	"CPS1_000033"	"g.211502536del"	""	"{PMID:Wakutani 2004:15617192}"	""	"2797delT (Leu933X)"	"undetectable hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210637812del"	""	"pathogenic"	""
"0000178566"	"0"	"90"	"2"	"211441098"	"211441098"	"subst"	"0"	"00006"	"CPS1_000085"	"g.211441098T>G"	""	"{PMID:Häberle 2011:21120950}"	""	"265T>G (Y89D)"	""	"Germline"	""	""	"0"	""	""	"g.210576374T>G"	""	"pathogenic"	""
"0000178567"	"0"	"90"	"2"	"211502547"	"211502548"	"del"	"0"	"00006"	"CPS1_000166"	"g.211502547_211502548del"	""	"{PMID:Häberle 2011:21120950}"	""	"2809_2810delAT (I937PfsX5)"	""	"Germline"	""	""	"0"	""	""	"g.210637823_210637824del"	""	"pathogenic"	""
"0000178568"	"1"	"10"	"2"	"211503856"	"211503856"	"subst"	"0"	"00006"	"CPS1_000011"	"g.211503856A>C"	"3/94"	"{PMID:Mitchell 2009:18666241}"	""	"2830-18A>C"	""	"Germline"	""	""	"0"	""	""	"g.210639132A>C"	""	"benign"	""
"0000178569"	"1"	"10"	"2"	"211503856"	"211503856"	"subst"	"0.0260421"	"00006"	"CPS1_000012"	"g.211503856A>G"	""	"{PMID:Mitchell 2009:18666241}"	""	"2830-18A>G"	"47 individuals tested"	"Germline"	""	""	"0"	""	""	"g.210639132A>G"	""	"benign"	""
"0000178570"	"0"	"90"	"2"	"211503889"	"211503889"	"subst"	"2.84634E-5"	"00006"	"CPS1_000167"	"g.211503889G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2845G>A (A949T)"	""	"Germline"	""	""	"0"	""	""	"g.210639165G>A"	""	"pathogenic"	""
"0000178571"	"0"	"90"	"2"	"211503917"	"211503917"	"subst"	"0"	"00006"	"CPS1_000168"	"g.211503917T>C"	""	"{PMID:Eeds 2006:16737834}"	""	"2873T>C (L958P)"	""	"Germline"	""	""	"0"	""	""	"g.210639193T>C"	""	"pathogenic"	""
"0000178572"	"0"	"90"	"2"	"211503920"	"211503920"	"subst"	"8.13418E-6"	"00006"	"CPS1_000170"	"g.211503920A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"2876A>G (Y959C)"	""	"Germline"	""	""	"0"	""	""	"g.210639196A>G"	""	"pathogenic"	""
"0000178573"	"0"	"90"	"2"	"211503920"	"211503921"	"del"	"0"	"00006"	"CPS1_000169"	"g.211503920_211503921del"	""	"{PMID:Häberle 2011:21120950}"	""	"2876_2877delAT (Y959CfsX9)"	""	"Germline"	""	""	"0"	""	""	"g.210639196_210639197del"	""	"pathogenic"	""
"0000178574"	"0"	"90"	"2"	"211503927"	"211503939"	"del"	"8.13564E-6"	"00006"	"CPS1_000171"	"g.211503927_211503939del"	""	"{PMID:Eeds 2006:16737834}"	""	"2883_2895del13 (Y962SfsX11)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210639203_210639215del"	""	"pathogenic"	""
"0000178575"	"0"	"90"	"2"	"211503929"	"211503929"	"subst"	"0"	"00006"	"CPS1_000172"	"g.211503929A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"2885A>G (Y962C)"	""	"Germline"	""	""	"0"	""	""	"g.210639205A>G"	""	"pathogenic"	""
"0000178576"	"0"	"90"	"2"	"211503937"	"211503937"	"subst"	"0"	"00006"	"CPS1_000173"	"g.211503937C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"2893C>T (Q965X)"	""	"Germline"	""	""	"0"	""	""	"g.210639213C>T"	""	"pathogenic"	""
"0000178577"	"0"	"90"	"2"	"211441100"	"211441100"	"subst"	"0"	"00006"	"CPS1_000086"	"g.211441100C>G"	""	"{PMID:Häberle 2011:21120950}"	""	"267C>G (Y89X)"	""	"Germline"	""	""	"0"	""	""	"g.210576376C>G"	""	"pathogenic"	""
"0000178578"	"0"	"90"	"2"	"211503940"	"211503940"	"subst"	"0"	"00006"	"CPS1_000233"	"g.211503940G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2895+1G>A (I944_Q965del22)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210639216G>A"	""	"pathogenic"	""
"0000178579"	"0"	"90"	"2"	"211504368"	"211506927"	"del"	"0"	"00006"	"CPS1_000234"	"g.211504368_211506927del"	""	"{PMID:Häberle 2011:21120950}"	""	"2895+429_2960-281del2559 (E966AfsX27)"	"2.6 Kb deletion\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.210639644_210642203del"	""	"pathogenic"	""
"0000178580"	"0"	"90"	"2"	"211504757"	"211504757"	"subst"	"0"	"00006"	"CPS1_000174"	"g.211504757T>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2933T>A (V978E)"	""	"Germline"	""	""	"0"	""	""	"g.210640033T>A"	""	"pathogenic"	""
"0000178581"	"0"	"90"	"2"	"211504768"	"211504768"	"subst"	"8.13438E-6"	"00006"	"CPS1_000175"	"g.211504768G>A"	""	"{PMID:Eeds 2006:16737834}"	""	"2944G>A (G982S)"	""	"Germline"	""	""	"0"	""	""	"g.210640044G>A"	""	"pathogenic"	""
"0000178582"	"1"	"90"	"2"	"211504769"	"211504769"	"subst"	"0"	"00006"	"CPS1_000029"	"g.211504769G>A"	""	"{PMID:Kurokawa 2007:17310273}, {OMIM608307:0007}"	""	"2945G>A (Gly982Asp)"	""	"Germline"	""	""	"0"	""	""	"g.210640045G>A"	""	"pathogenic"	""
"0000178583"	"1"	"90"	"2"	"211504769"	"211504769"	"subst"	"0"	"00006"	"CPS1_000029"	"g.211504769G>A"	""	"{PMID:Kurokawa 2007:17310273}, {OMIM608307:0007}"	""	"2945G>A (Gly982Asp)"	"low hepatic enzyme activity; unknown pathogenic variant in 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.210640045G>A"	""	"pathogenic"	""
"0000178584"	"0"	"90"	"2"	"211504769"	"211504769"	"subst"	"0"	"00006"	"CPS1_000029"	"g.211504769G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"2945G>A (G982D)"	""	"Germline"	""	""	"0"	""	""	"g.210640045G>A"	""	"pathogenic"	""
"0000178585"	"0"	"90"	"2"	"211504769"	"211504769"	"subst"	"0"	"00006"	"CPS1_000176"	"g.211504769G>T"	""	"{PMID:Häberle 2011:21120950}"	""	"2945G>T (G982V)"	""	"Germline"	""	""	"0"	""	""	"g.210640045G>T"	""	"pathogenic"	""
"0000178586"	"0"	"90"	"2"	"211504774"	"211504774"	"subst"	"0"	"00006"	"CPS1_000177"	"g.211504774T>C"	""	"{PMID:Häberle 2011:21120950}"	""	"2950T>C (Y984H)"	""	"Germline"	""	""	"0"	""	""	"g.210640050T>C"	""	"pathogenic"	""
"0000178587"	"0"	"90"	"2"	"211504783"	"211504783"	"subst"	"0"	"00006"	"CPS1_000226"	"g.211504783G>T"	""	"{PMID:Häberle 2011:21120950}"	""	"2959G>T (G987C)"	"last nucleotide exon, donor splice site possibly affected"	"Germline"	""	""	"0"	""	""	"g.210640059G>T"	""	"pathogenic"	""
"0000178588"	"0"	"90"	"2"	"211441139"	"211441144"	"dup"	"0"	"00006"	"CPS1_000087"	"g.211441139_211441144dup"	""	"{PMID:Summar 1998:09686343}, {PMID:Eeds 2006:16737834}"	""	"306_311dupGAATGG (N103_G104insGN)"	""	"Germline"	""	""	"0"	""	""	"g.210576415_210576420dup"	""	"pathogenic"	""
"0000178589"	"0"	"90"	"2"	"211507223"	"211507223"	"subst"	"0"	"00006"	"CPS1_000178"	"g.211507223T>C"	""	"{PMID:Häberle 2011:21120950}"	""	"2975T>C (F992S)"	""	"Germline"	""	""	"0"	""	""	"g.210642499T>C"	""	"pathogenic"	""
"0000178590"	"0"	"90"	"2"	"211507241"	"211507241"	"subst"	"4.06517E-6"	"00006"	"CPS1_000179"	"g.211507241C>T"	""	"{PMID:Eeds 2006:16737834}"	""	"2993C>T (S998F)"	""	"Germline"	""	""	"0"	""	""	"g.210642517C>T"	""	"pathogenic"	""
"0000178591"	"0"	"90"	"2"	"211507244"	"211507246"	"del"	"0"	"00006"	"CPS1_000180"	"g.211507244_211507246del"	""	"{PMID:Häberle 2011:21120950}"	""	"2995_2997delAGT (S999del)"	""	"Germline"	""	""	"0"	""	""	"g.210642520_210642522del"	""	"pathogenic"	""
"0000178592"	"1"	"90"	"2"	"211507285"	"211507287"	"del"	"0"	"00006"	"CPS1_000077"	"g.211507285_211507287del"	""	"{PMID:Häberle 2003:12655559}"	""	"3036_3038delGGT (V1011del)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210642561_210642563del"	""	"pathogenic"	""
"0000178593"	"2"	"90"	"2"	"211507285"	"211507287"	"del"	"0"	"00006"	"CPS1_000077"	"g.211507285_211507287del"	""	"{PMID:Häberle 2003:12655559}"	""	"3036_3038delGGT (V1011del)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210642561_210642563del"	""	"pathogenic"	""
"0000178594"	"0"	"90"	"2"	"211507292"	"211507292"	"dup"	"0"	"00006"	"CPS1_000181"	"g.211507292dup"	""	"{PMID:Eeds 2006:16737834}"	""	"3044_3045insG (C1015WfsX4)"	""	"Germline"	""	""	"0"	""	""	"g.210642568dup"	""	"pathogenic"	""
"0000178595"	"0"	"90"	"2"	"211507295"	"211507295"	"subst"	"8.12334E-6"	"00006"	"CPS1_000182"	"g.211507295A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"3047A>G (N1016S)"	""	"Germline"	""	""	"0"	""	""	"g.210642571A>G"	""	"pathogenic"	""
"0000178596"	"0"	"90"	"2"	"211507298"	"211507298"	"subst"	"0"	"00006"	"CPS1_000183"	"g.211507298C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"3050C>T (P1017L)"	""	"Germline"	""	""	"0"	""	""	"g.210642574C>T"	""	"pathogenic"	""
"0000178597"	"0"	"90"	"2"	"211507313"	"211507313"	"subst"	"4.06128E-6"	"00006"	"CPS1_000184"	"g.211507313C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"3065C>T (T1022I)"	""	"Germline"	""	""	"0"	""	""	"g.210642589C>T"	""	"pathogenic"	""
"0000178598"	"2"	"90"	"2"	"211507341"	"211507341"	"subst"	"0"	"00006"	"CPS1_000051"	"g.211507341C>A"	""	"{PMID:Kurokawa 2007:17310273}"	""	"3093C>A (Tyr1031X)"	""	"Germline"	""	""	"0"	""	""	"g.210642617C>A"	""	"pathogenic"	""
"0000178599"	"1"	"90"	"2"	"211441201"	"211441201"	"subst"	"0"	"00006"	"CPS1_000061"	"g.211441201C>T"	""	"{PMID:Summar 1998:09686343}"	""	"368C>T (S123F)"	""	"Germline"	""	""	"0"	""	""	"g.210576477C>T"	""	"pathogenic"	""
"0000178600"	"0"	"90"	"2"	"211507349"	"211507349"	"subst"	"0"	"00006"	"CPS1_000185"	"g.211507349A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"3101A>G (E1034G)"	""	"Germline"	""	""	"0"	""	""	"g.210642625A>G"	""	"pathogenic"	""
"0000178601"	"1"	"10"	"2"	"211507404"	"211507404"	"del"	"0"	"00006"	"CPS1_000013"	"g.211507404del"	""	"{PMID:Mitchell 2009:18666241}"	""	"3141+15delA"	"47 individuals tested"	"Germline"	""	""	"0"	""	""	"g.210642680del"	""	"benign"	""
"0000178602"	"2"	"90"	"2"	"211512597"	"211512597"	"subst"	"0"	"00006"	"CPS1_000075"	"g.211512597A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"3152A>G (H1045R)"	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.210647873A>G"	""	"pathogenic"	""
"0000178603"	"0"	"90"	"2"	"211512604"	"211512606"	"del"	"0"	"00006"	"CPS1_000186"	"g.211512604_211512606del"	""	"{PMID:Häberle 2011:21120950}"	""	"3159_3161delCAT (I1054del)"	""	"Germline"	""	""	"0"	""	""	"g.210647880_210647882del"	""	"pathogenic"	""
"0000178604"	"0"	"90"	"2"	"211512606"	"211512606"	"subst"	"0"	"00006"	"CPS1_000187"	"g.211512606T>G"	""	"{PMID:Yefimenko 2004:15876373}"	""	"3161T>G (I1054R)"	"corresponding variants in E.coli CPS decreases 5-fold Vmax and increases 15-fold the Km for ATP"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210647882T>G"	""	"NA"	""
"0000178605"	"0"	"90"	"2"	"211512606"	"211512606"	"subst"	"0"	"00006"	"CPS1_000187"	"g.211512606T>G"	""	"{PMID:Rapp 2001:11388595}"	""	"3161T>G (I1054R)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210647882T>G"	""	"pathogenic"	""
"0000178606"	"0"	"90"	"2"	"211512621"	"211512621"	"subst"	"0"	"00006"	"CPS1_000188"	"g.211512621A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"3176A>G (Q1059R)"	"<2% liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210647897A>G"	""	"pathogenic"	""
"0000178607"	"0"	"90"	"2"	"211512630"	"211512630"	"del"	"0"	"00006"	"CPS1_000189"	"g.211512630del"	""	"{PMID:Eeds 2006:16737834}"	""	"3185delA (N1062TfsX38)"	""	"Germline"	""	""	"0"	""	""	"g.210647906del"	""	"pathogenic"	""
"0000178608"	"0"	"90"	"2"	"211512639"	"211512639"	"subst"	"8.12902E-6"	"00006"	"CPS1_000190"	"g.211512639C>A"	""	"{PMID:Häberle 2011:21120950}"	""	"3194C>A (A1065E)"	""	"Germline"	""	""	"0"	""	""	"g.210647915C>A"	""	"pathogenic"	""
"0000178609"	"0"	"90"	"2"	"211512710"	"211512710"	"subst"	"0"	"00006"	"CPS1_000191"	"g.211512710C>T"	""	"{PMID:Javid-Majd 1996:08916923}"	""	"3265C>T (R1089C)"	"corresponding variant in E.coli CPS (R675A) reduces ~6-fold Vmax for carbamoyl phosphate synthesis using glutamine as substrate"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210647986C>T"	""	"NA"	""
"0000178610"	"0"	"90"	"2"	"211441201"	"211441201"	"subst"	"0"	"00006"	"CPS1_000061"	"g.211441201C>T"	""	"{PMID:Pekkala 2010:20578160}"	""	"368C>T (S123F)"	"CPSI expression studies show 60% decreased activity"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210576477C>T"	""	"NA"	""
"0000178611"	"0"	"90"	"2"	"211512710"	"211512710"	"subst"	"0"	"00006"	"CPS1_000191"	"g.211512710C>T"	""	"Khayat 2009 (Hum Genet 125:336)"	""	"3265C>T (R1089C)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210647986C>T"	""	"pathogenic"	""
"0000178612"	"0"	"90"	"2"	"211512710"	"211512710"	"subst"	"0"	"00006"	"CPS1_000191"	"g.211512710C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"3265C>T (R1089C)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210647986C>T"	""	"pathogenic"	""
"0000178613"	"0"	"90"	"2"	"211512711"	"211512711"	"subst"	"0"	"00006"	"CPS1_000192"	"g.211512711G>T"	""	"{PMID:Yefimenko 2004:15876373}"	""	"3266G>T (R1089L)"	"corresponding variant in E.coli CPS decreases 10-fold enzyme activity"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210647987G>T"	""	"NA"	""
"0000178614"	"0"	"90"	"2"	"211512711"	"211512711"	"subst"	"0"	"00006"	"CPS1_000192"	"g.211512711G>T"	""	"{PMID:Summar 1998:09686343}, {PMID:Eeds 2006:16737834}"	""	"3266G>T (R1089L)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210647987G>T"	""	"pathogenic"	""
"0000178615"	"2"	"90"	"2"	"211512753"	"211512753"	"subst"	"0"	"00006"	"CPS1_000052"	"g.211512753A>G"	""	"{PMID:Kurokawa 2007:17310273}"	""	"3308A>G (Gln1103Arg)"	""	"Germline"	""	""	"0"	""	""	"g.210648029A>G"	""	"pathogenic"	""
"0000178616"	"0"	"90"	"2"	"211512762"	"211512762"	"subst"	"0"	"00006"	"CPS1_000193"	"g.211512762G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"3317G>A (W1106X)"	""	"Germline"	""	""	"0"	""	""	"g.210648038G>A"	""	"pathogenic"	""
"0000178617"	"0"	"90"	"2"	"211513196"	"211513196"	"subst"	"0"	"00006"	"CPS1_000235"	"g.211513196G>T"	""	"{PMID:Häberle 2011:21120950}"	""	"3337-1G>T (N1113WfsX10)"	"affects acceptor splice site"	"Germline"	""	""	"0"	""	""	"g.210648472G>T"	""	"pathogenic"	""
"0000178618"	"0"	"90"	"2"	"211513193"	"211513201"	"dup"	"0"	"00006"	"CPS1_000194"	"g.211513193_211513201dup"	""	"{PMID:Häberle 2011:21120950}"	""	"3341_3342insTTAAAATGA (E1114DX)"	"Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.210648469_210648477dup"	""	"pathogenic"	""
"0000178619"	"0"	"90"	"2"	"211513218"	"211513219"	"del"	"0"	"00006"	"CPS1_000195"	"g.211513218_211513219del"	""	"{PMID:Summar 1998:09686343}"	""	"3358_3359delAA (K1120VfsX25)"	""	"Germline"	""	""	"0"	""	""	"g.210648494_210648495del"	""	"pathogenic"	""
"0000178621"	"0"	"90"	"2"	"211442169"	"211442172"	"dup"	"0"	"00006"	"CPS1_000088"	"g.211442169_211442172dup"	""	"{PMID:Häberle 2011:21120950}"	""	"409_410insTATA (S137IfsX2)"	""	"Germline"	""	""	"0"	""	""	"g.210577445_210577448dup"	""	"pathogenic"	""
"0000178622"	"1"	"10"	"2"	"211515058"	"211515058"	"subst"	"0.42462"	"00006"	"CPS1_000014"	"g.211515058A>T"	"0.553"	"{PMID:Mitchell 2009:18666241}"	""	"3405-29A>T"	""	"Germline"	""	""	"0"	""	""	"g.210650334A>T"	""	"benign"	""
"0000178623"	"1"	"90"	"2"	"211515104"	"211515104"	"subst"	"0"	"00006"	"CPS1_000035"	"g.211515104T>G"	""	"{PMID:Wakutani 2004:15617192}"	""	"3422T>G (Val1141Gly)"	"4.8% liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210650380T>G"	""	"pathogenic"	""
"0000178624"	"0"	"90"	"2"	"211515146"	"211515146"	"subst"	"0"	"00006"	"CPS1_000196"	"g.211515146C>A"	""	"{PMID:Häberle 2011:21120950}"	""	"3464C>A (A1155E)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210650422C>A"	""	"pathogenic"	""
"0000178625"	"0"	"90"	"2"	"211515146"	"211515146"	"subst"	"8.12665E-6"	"00006"	"CPS1_000197"	"g.211515146C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"3464C>T (A1155V)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210650422C>T"	""	"pathogenic"	""
"0000178626"	"0"	"90"	"2"	"211518752"	"211518752"	"del"	"0"	"00006"	"CPS1_000198"	"g.211518752del"	""	"{PMID:Häberle 2011:21120950}"	""	"3484delC (H1162TfsX5)"	""	"Germline"	""	""	"0"	""	""	"g.210654028del"	""	"pathogenic"	""
"0000178627"	"0"	"90"	"2"	"211518788"	"211518788"	"subst"	"4.06101E-6"	"00006"	"CPS1_000199"	"g.211518788C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"3520C>T (R1174X)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210654064C>T"	""	"pathogenic"	""
"0000178628"	"1"	"90"	"2"	"211518827"	"211518827"	"subst"	"0"	"00006"	"CPS1_000078"	"g.211518827G>C"	""	"{PMID:Häberle 2003:12655559}, {PMID:Klaus 2009:19793055}, {OMIM608307:0010}"	""	"3558+1G>C (E1161_R1186del26d)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210654103G>C"	""	"pathogenic"	""
"0000178629"	"0"	"90"	"2"	"211521247"	"211521247"	"subst"	"0"	"00006"	"CPS1_000236"	"g.211521247A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"3559-2A>G (V1187_K1222del)"	"affects acceptor splice site"	"Germline"	""	""	"0"	""	""	"g.210656523A>G"	""	"pathogenic"	""
"0000178630"	"2"	"90"	"2"	"211521274"	"211521274"	"subst"	"0"	"00006"	"CPS1_000053"	"g.211521274A>C"	""	"{PMID:Kurokawa 2007:17310273}"	""	"3584A>C (His1195Pro)"	""	"Germline"	""	""	"0"	""	""	"g.210656550A>C"	""	"pathogenic"	""
"0000178631"	"0"	"90"	"2"	"211521274"	"211521274"	"subst"	"0"	"00006"	"CPS1_000053"	"g.211521274A>C"	""	"Miles 1993"	""	"3584A>C (H1195P)"	"corresponding variant in E.coli CPS (H781N) reduced ~10-fold Vmax for carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210656550A>C"	""	"NA"	""
"0000178632"	"0"	"90"	"2"	"211442183"	"211442183"	"subst"	"0"	"00006"	"CPS1_000089"	"g.211442183C>A"	""	"{PMID:Eeds 2006:16737834}"	""	"420C>A (Y140X)"	""	"Germline"	""	""	"0"	""	""	"g.210577459C>A"	""	"pathogenic"	""
"0000178633"	"0"	"90"	"2"	"211521297"	"211521297"	"subst"	"0"	"00006"	"CPS1_000200"	"g.211521297T>C"	""	"{PMID:Yefimenko 2004:15876373}"	""	"3607T>C (S1203P)"	"corresponding variant in E.coli CPS virtually abolishes activity"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210656573T>C"	""	"NA"	""
"0000178634"	"0"	"90"	"2"	"211521297"	"211521297"	"subst"	"0"	"00006"	"CPS1_000200"	"g.211521297T>C"	""	"{PMID:Summar 1998:09686343}, {PMID:Eeds 2006:16737834}"	""	"3607T>C (S1203P)"	""	"Germline"	""	""	"0"	""	""	"g.210656573T>C"	""	"pathogenic"	""
"0000178635"	"0"	"90"	"2"	"211521298"	"211521298"	"subst"	"4.06085E-6"	"00006"	"CPS1_000201"	"g.211521298C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"3608C>T (S1203L)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210656574C>T"	""	"pathogenic"	""
"0000178636"	"0"	"90"	"2"	"211521303"	"211521303"	"subst"	"0"	"00006"	"CPS1_000202"	"g.211521303G>A"	""	"{PMID:Eeds 2006:16737834}"	""	"3613G>A (D1205N)"	""	"Germline"	""	""	"0"	""	""	"g.210656579G>A"	""	"pathogenic"	""
"0000178637"	"2"	"90"	"2"	"211521333"	"211521333"	"subst"	"0.00158367"	"00006"	"CPS1_000054"	"g.211521333A>G"	""	"{PMID:Kurokawa 2007:17310273}"	""	"3643A>G (Ile1215Val)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210656609A>G"	""	"pathogenic"	""
"0000178638"	"0"	"90"	"2"	"211523336"	"211523337"	"ins"	"0"	"00006"	"CPS1_000203"	"g.211523336_211523337insTTTC"	""	"{PMID:Häberle 2011:21120950}"	""	"3680_3681insTTTC (R1228FfsX24)"	""	"Germline"	""	""	"0"	""	""	"g.210658612_210658613insTTTC"	""	"pathogenic"	""
"0000178639"	"0"	"90"	"2"	"211523339"	"211523339"	"subst"	"3.65485E-5"	"00006"	"CPS1_000204"	"g.211523339G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"3683G>A (R1228Q)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210658615G>A"	""	"pathogenic"	""
"0000178640"	"2"	"90"	"2"	"211523379"	"211523379"	"subst"	"0"	"00006"	"CPS1_000055"	"g.211523379C>A"	""	"{PMID:Kurokawa 2007:17310273}"	""	"3723C>A (Asn1241Lys)"	"low hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210658655C>A"	""	"pathogenic"	""
"0000178641"	"0"	"90"	"2"	"211523379"	"211523379"	"subst"	"0"	"00006"	"CPS1_000055"	"g.211523379C>A"	""	"{PMID:Javid-Majd 1996:08916923}"	""	"3723C>A (N1241K)"	"corresponding variant in E.coli CPS (N827A) reduces ~9-fold Vmax for carbamoyl phosphate synthesis using glutamine as substrate"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210658655C>A"	""	"NA"	""
"0000178642"	"0"	"90"	"2"	"211523413"	"211523413"	"subst"	"0"	"00006"	"CPS1_000237"	"g.211523413G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"3756+1G>A (V1223_L1252del)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210658689G>A"	""	"pathogenic"	""
"0000178643"	"1"	"10"	"2"	"211442212"	"211442212"	"subst"	"0.00643599"	"00006"	"CPS1_000001"	"g.211442212G>A"	"4/94"	"{PMID:Mitchell 2009:18666241}"	""	"449G>A (Gly150Glu)"	""	"Germline"	""	""	"0"	""	""	"g.210577488G>A"	""	"benign"	""
"0000178644"	"0"	"90"	"2"	"211525217"	"211525217"	"subst"	"0"	"00006"	"CPS1_000205"	"g.211525217G>C"	""	"{PMID:Javid-Majd 1996:08916923}"	""	"3765G>C (E1255D)"	"corresponding variant in E.coli CPS (E841Q) reduces ~30-fold the Vmax for carbamoyl phosphate synthesis"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210660493G>C"	""	"NA"	""
"0000178645"	"0"	"90"	"2"	"211525217"	"211525217"	"subst"	"0"	"00006"	"CPS1_000205"	"g.211525217G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"3765G>C (E1255D)"	""	"Germline"	""	""	"0"	""	""	"g.210660493G>C"	""	"pathogenic"	""
"0000178646"	"2"	"90"	"2"	"211525236"	"211525236"	"subst"	"4.0625E-6"	"00006"	"CPS1_000036"	"g.211525236C>T"	""	"{PMID:Wakutani 2004:15617192}"	""	"3784C>T (Arg1262X)"	"4.8% liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210660512C>T"	""	"pathogenic"	""
"0000178647"	"1"	"90"	"2"	"211525236"	"211525236"	"subst"	"4.0625E-6"	"00006"	"CPS1_000056"	"g.211525236C>T"	""	"{PMID:Kurokawa 2007:17310273}"	""	"3784C>T (Arg1262X)"	""	"Germline"	""	""	"0"	""	""	"g.210660512C>T"	""	"pathogenic"	""
"0000178648"	"2"	"90"	"2"	"211525236"	"211525236"	"subst"	"4.0625E-6"	"00006"	"CPS1_000056"	"g.211525236C>T"	""	"{PMID:Ono 2009:19167850}"	""	"3784C>T (R1262X) )"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210660512C>T"	""	"pathogenic"	""
"0000178649"	"0"	"90"	"2"	"211525236"	"211525236"	"subst"	"4.0625E-6"	"00006"	"CPS1_000056"	"g.211525236C>T"	""	"{PMID:Eeds 2006:16737834}"	""	"3784C>T (R1262X)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210660512C>T"	""	"pathogenic"	""
"0000178650"	"0"	"90"	"2"	"211525236"	"211525236"	"subst"	"4.0625E-6"	"00006"	"CPS1_000056"	"g.211525236C>T"	""	"{PMID:Eeds 2006:16737834}"	""	"3784C>T (R1262X)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210660512C>T"	""	"pathogenic"	""
"0000178651"	"0"	"90"	"2"	"211525236"	"211525236"	"subst"	"4.0625E-6"	"00006"	"CPS1_000056"	"g.211525236C>T"	""	"{PMID:Ono 2009:19167850}"	""	"3784C>T (R1262X)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210660512C>T"	""	"pathogenic"	""
"0000178652"	"0"	"90"	"2"	"211525237"	"211525237"	"subst"	"0"	"00006"	"CPS1_000206"	"g.211525237G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"3785G>A (R1262Q)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210660513G>A"	""	"pathogenic"	""
"0000178653"	"0"	"90"	"2"	"211525237"	"211525237"	"subst"	"0"	"00006"	"CPS1_000207"	"g.211525237G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"3785G>C (R1262P)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210660513G>C"	""	"pathogenic"	""
"0000178654"	"0"	"90"	"2"	"211442235"	"211442235"	"subst"	"0"	"00006"	"CPS1_000238"	"g.211442235G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"471+1G>A (128V_157Kdel30)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210577511G>A"	""	"pathogenic"	""
"0000178655"	"0"	"90"	"2"	"211525272"	"211525272"	"subst"	"0"	"00006"	"CPS1_000208"	"g.211525272G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"3820G>C (D1274H)"	""	"Germline"	""	""	"0"	""	""	"g.210660548G>C"	""	"pathogenic"	""
"0000178656"	"0"	"90"	"2"	"211525321"	"211525322"	"ins"	"0"	"00006"	"CPS1_000209"	"g.211525321_211525322insCC"	""	"{PMID:Eeds 2006:16737834}"	""	"3869_3870insCC (E1290DfsX12)"	""	"Germline"	""	""	"0"	""	""	"g.210660597_210660598insCC"	""	"pathogenic"	""
"0000178657"	"1"	"10"	"2"	"211525420"	"211525420"	"subst"	"0.0352597"	"00006"	"CPS1_000015"	"g.211525420A>G"	"3/94"	"{PMID:Mitchell 2009:18666241}"	""	"3927+41A>G"	""	"Germline"	""	""	"0"	""	""	"g.210660696A>G"	""	"benign"	""
"0000178659"	"1"	"10"	"2"	"211527722"	"211527722"	"dup"	"0"	"00006"	"CPS1_000016"	"g.211527722dup"	"10/94"	"{PMID:Mitchell 2009:18666241}"	""	"3928-125dupT"	""	"Germline"	""	""	"0"	""	""	"g.210662998dup"	""	"benign"	""
"0000178660"	"2"	"90"	"2"	"211527887"	"211527888"	"dup"	"0"	"00006"	"CPS1_000071"	"g.211527887_211527888dup"	""	"{PMID:Eeds 2006:16737834}"	""	"3969_3970insCC (fsX)"	""	"Germline"	""	""	"0"	""	""	"g.210663163_210663164dup"	""	"pathogenic"	""
"0000178661"	"0"	"90"	"2"	"211527887"	"211527888"	"dup"	"0"	"00006"	"CPS1_000071"	"g.211527887_211527888dup"	""	"{PMID:Eeds 2006:16737834}"	""	"3965_3966insCC (D1322AfsX5)"	""	"Germline"	""	""	"0"	""	""	"g.210663163_210663164dup"	""	"pathogenic"	""
"0000178662"	"0"	"90"	"2"	"211527887"	"211527888"	"dup"	"0"	"00006"	"CPS1_000071"	"g.211527887_211527888dup"	""	"{PMID:Häberle 2011:21120950}"	""	"3969_3970insCC (I1324PfsX3)"	""	"Germline"	""	""	"0"	""	""	"g.210663163_210663164dup"	""	"pathogenic"	""
"0000178663"	"2"	"90"	"2"	"211527888"	"211527888"	"dup"	"0"	"00006"	"CPS1_000057"	"g.211527888dup"	""	"{PMID:Kurokawa 2007:17310273}"	""	"3969insC (fsX)"	""	"Germline"	""	""	"0"	""	""	"g.210663164dup"	""	"pathogenic"	""
"0000178664"	"0"	"90"	"2"	"211527898"	"211527898"	"subst"	"0"	"00006"	"CPS1_000210"	"g.211527898T>C"	""	"{PMID:Hart and Powers-Lee 2009:19106093}"	""	"3979T>C (C1327R)"	"CPSI expression studie show 5-fold decreased catalytic efficiency, 7-fold increased affinity for NAG; proposed to decrease protection enzyme against oxidative insults"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210663174T>C"	""	"NA"	""
"0000178666"	"0"	"90"	"2"	"211444460"	"211444460"	"subst"	"0"	"00006"	"CPS1_000090"	"g.211444460A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"494A>G (D165G)"	""	"Germline"	""	""	"0"	""	""	"g.210579736A>G"	""	"pathogenic"	""
"0000178667"	"0"	"90"	"2"	"211527898"	"211527898"	"subst"	"0"	"00006"	"CPS1_000210"	"g.211527898T>C"	""	"{PMID:Häberle 2011:21120950}"	""	"3979T>C (C1327R)"	""	"Germline"	""	""	"0"	""	""	"g.210663174T>C"	""	"pathogenic"	""
"0000178668"	"1"	"90"	"2"	"211527910"	"211527910"	"subst"	"0"	"00006"	"CPS1_000070"	"g.211527910T>C"	""	"{PMID:Eeds 2006:16737834}"	""	"3991T>C (S1331P)"	""	"Germline"	""	""	"0"	""	""	"g.210663186T>C"	""	"pathogenic"	""
"0000178669"	"0"	"90"	"2"	"211527917"	"211527917"	"subst"	"4.06157E-6"	"00006"	"CPS1_000211"	"g.211527917G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"3998G>A (G1333E)"	""	"Germline"	""	""	"0"	""	""	"g.210663193G>A"	""	"pathogenic"	""
"0000178671"	"1"	"10"	"2"	"0"	"0"	""	"0"	"00006"	"CPS1_000018"	"g.211532802_211532829GT[?]"	""	"{PMID:Mitchell 2009:18666241}"	""	"4003-82TG(n)"	"47 individuals tested"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000178672"	"1"	"10"	"2"	"211532879"	"211532879"	"subst"	"0.000183307"	"00006"	"CPS1_000017"	"g.211532879C>G"	"1/94"	"{PMID:Mitchell 2009:18666241}"	""	"4003-31C>G"	""	"Germline"	""	""	"0"	""	""	"g.210668155C>G"	""	"benign"	""
"0000178673"	"0"	"90"	"2"	"211532995"	"211533006"	"del"	"0"	"00006"	"CPS1_000212"	"g.211532995_211533006del"	""	"{PMID:Häberle 2011:21120950}"	""	"4088_4099del12 (L1363QdelIGI)"	""	"Germline"	""	""	"0"	""	""	"g.210668271_210668282del"	""	"pathogenic"	""
"0000178674"	"2"	"90"	"2"	"211533010"	"211533010"	"subst"	"4.06283E-6"	"00006"	"CPS1_000079"	"g.211533010T>C"	""	"{PMID:Häberle 2003:12655559}, {PMID:Klaus 2009:19793055}, {OMIM608307:0011}"	""	"4101+2T>C"	""	"Germline"	""	""	"0"	""	""	"g.210668286T>C"	""	"pathogenic"	""
"0000178675"	"0"	"90"	"2"	"211539387"	"211539387"	"subst"	"0"	"00006"	"CPS1_000239"	"g.211539387A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"4102-239A>G (Q1368SfsX17)"	""	"Germline"	""	""	"0"	""	""	"g.210674663A>G"	""	"pathogenic"	""
"0000178676"	"0"	"90"	"2"	"211539636"	"211539636"	"subst"	"0"	"00006"	"CPS1_000213"	"g.211539636G>T"	""	"Mora 1999, {PMID:Pierrat and Raushel 2002:11913968}, {PMID:Pekkala 2009:19754428}"	""	"4112G>T (R1371L)"	"corresponding variant in E.coli CPS (K954A) substantially reduces enzyme activity and importantly decreases activation by nucleotide activator IMP (IMP site equivalent to CPSI NAG site)"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210674912G>T"	""	"NA"	""
"0000178677"	"0"	"90"	"2"	"211444493"	"211444494"	"dup"	"0"	"00006"	"CPS1_000091"	"g.211444493_211444494dup"	""	"{PMID:Häberle 2011:21120950}"	""	"527_528insGA (G177RfsX25)"	"last nucleotide exon, donor splice site possibly affected"	"Germline"	""	""	"0"	""	""	"g.210579769_210579770dup"	""	"pathogenic"	""
"0000178678"	"0"	"90"	"2"	"211539636"	"211539636"	"subst"	"0"	"00006"	"CPS1_000213"	"g.211539636G>T"	""	"{PMID:Häberle 2011:21120950}"	""	"4112G>T (R1371L)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210674912G>T"	""	"pathogenic"	""
"0000178679"	"1"	"10"	"2"	"211539650"	"211539650"	"subst"	"0.0131415"	"00006"	"CPS1_000019"	"g.211539650G>A"	"0.05"	"{PMID:Mitchell 2009:18666241}"	""	"4126G>A (Gly1376Ser )"	"47 individuals tested"	"Germline"	""	""	"0"	""	""	"g.210674926G>A"	""	"benign"	""
"0000178680"	"0"	"90"	"2"	"211539656"	"211539656"	"subst"	"0"	"00006"	"CPS1_000214"	"g.211539656G>A"	""	"{PMID:Eeds 2006:16737834}"	""	"4132G>A (A1378T)"	""	"Germline"	""	""	"0"	""	""	"g.210674932G>A"	""	"pathogenic"	""
"0000178681"	"0"	"90"	"2"	"211539666"	"211539666"	"subst"	"0"	"00006"	"CPS1_000215"	"g.211539666T>C"	""	"{PMID:Summar 1998:09686343}"	""	"4142T>C (L1381S)"	""	"Germline"	""	""	"0"	""	""	"g.210674942T>C"	""	"pathogenic"	""
"0000178682"	"0"	"90"	"2"	"211539672"	"211539672"	"del"	"0"	"00006"	"CPS1_000216"	"g.211539672del"	""	"{PMID:Häberle 2011:21120950}"	""	"4148delA (N1383MfsX44)"	""	"Germline"	""	""	"0"	""	""	"g.210674948del"	""	"pathogenic"	""
"0000178683"	"0"	"90"	"2"	"211540462"	"211540462"	"subst"	"8.13127E-6"	"00006"	"CPS1_000217"	"g.211540462C>T"	""	"{PMID:Pekkala 2009:19754428}"	""	"4172C>T (T1391M)"	"CPSI expression studies show 400-fold increased Ka for NAG"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210675738C>T"	""	"NA"	""
"0000178684"	"0"	"90"	"2"	"211540462"	"211540462"	"subst"	"8.13127E-6"	"00006"	"CPS1_000217"	"g.211540462C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"4172C>T (T1391M)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210675738C>T"	""	"pathogenic"	""
"0000178685"	"0"	"90"	"2"	"211540482"	"211540482"	"subst"	"0"	"00006"	"CPS1_000218"	"g.211540482C>G"	""	"{PMID:Häberle 2011:21120950}"	""	"4192C>G (L1398V)"	""	"Germline"	""	""	"0"	""	""	"g.210675758C>G"	""	"pathogenic"	""
"0000178687"	"1"	"10"	"2"	"211540507"	"211540507"	"subst"	"0.304277"	"00006"	"CPS1_000020"	"g.211540507C>A"	"0.330"	"{PMID:Mitchell 2009:18666241}"	""	"4217C>A (T1406N)"	""	"Germline"	""	""	"0"	""	""	"g.210675783C>A"	""	"benign"	""
"0000178688"	"1"	"10"	"2"	"0"	"0"	""	"0"	"00006"	"CPS1_000002"	"g.?"	""	"{PMID:Mitchell 2009:18666241}"	""	"528+40GT(n)"	"47 individuals tested"	"Germline"	""	""	"0"	""	""	""	""	"benign"	""
"0000178689"	"1"	"90"	"2"	"211540522"	"211540522"	"subst"	"4.06587E-6"	"00006"	"CPS1_000073"	"g.211540522C>T"	""	"{PMID:Summar 1998:09686343}, {PMID:Eeds 2006:16737834}"	""	"4232C>T (P1411L)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210675798C>T"	""	"pathogenic"	""
"0000178690"	"2"	"90"	"2"	"211540522"	"211540522"	"subst"	"4.06587E-6"	"00006"	"CPS1_000073"	"g.211540522C>T"	""	"{PMID:Summar 1998:09686343}, {PMID:Eeds 2006:16737834}"	""	"4232C>T (Q478X)"	""	"Germline"	""	""	"0"	""	""	"g.210675798C>T"	""	"pathogenic"	""
"0000178691"	"0"	"90"	"2"	"211540522"	"211540522"	"subst"	"4.06587E-6"	"00006"	"CPS1_000073"	"g.211540522C>T"	""	"{PMID:Pekkala 2010:20578160}"	""	"4232C>T (P1411L)"	"CPSI expression studies show 50% decrease specific activity, with normal NAG activation kinetics and thermal stability"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210675798C>T"	""	"NA"	""
"0000178693"	"1"	"10"	"2"	"211541721"	"211541721"	"subst"	"0.0330124"	"00006"	"CPS1_000021"	"g.211541721A>G"	"0.053"	"{PMID:Mitchell 2009:18666241}"	""	"4275-10A>G"	""	"Germline"	""	""	"0"	""	""	"g.210676997A>G"	""	"benign"	""
"0000178694"	"0"	"90"	"2"	"211541772"	"211541772"	"subst"	"0"	"00006"	"CPS1_000219"	"g.211541772C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"4316C>T (P1439L)"	""	"Germline"	""	""	"0"	""	""	"g.210677048C>T"	""	"pathogenic"	""
"0000178695"	"0"	"90"	"2"	"211541783"	"211541783"	"subst"	"0"	"00006"	"CPS1_000220"	"g.211541783A>G"	""	"{PMID:Eeds 2006:16737834}"	""	"4327A>G (T1443A)"	""	"Germline"	""	""	"0"	""	""	"g.210677059A>G"	""	"pathogenic"	""
"0000178697"	"1"	"70"	"2"	"211541805"	"211541805"	"subst"	"0"	"00006"	"CPS1_000028"	"g.211541805C>A"	"3/34 controls"	"{PMID:Pearson 2001:11407344}, {OMIM608307:0006}"	""	"4332C>A (T1405N) (Thr1450Asn)"	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.210677081C>A"	""	"likely pathogenic"	""
"0000178698"	"2"	"70"	"2"	"211541805"	"211541805"	"subst"	"0"	"00006"	"CPS1_000028"	"g.211541805C>A"	"3/34 controls"	"{PMID:Pearson 2001:11407344}, {OMIM608307:0006}"	""	"4332C>A (T1405N) (Thr1450Asn)"	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.210677081C>A"	""	"likely pathogenic"	""
"0000178699"	"0"	"90"	"2"	"211447338"	"211447338"	"subst"	"0"	"00006"	"CPS1_000227"	"g.211447338T>G"	""	"{PMID:Eeds 2006:16737834}"	""	""	"creates acceptor splice site"	"Germline"	""	""	"0"	""	""	"g.210582614T>G"	""	"pathogenic"	""
"0000178700"	"1"	"70"	"2"	"211541805"	"211541805"	"subst"	"0"	"00006"	"CPS1_000028"	"g.211541805C>A"	""	"{PMID:Summar 2004:14718356}, {OMIM608307:0006}"	""	"4332C>A (T1405N) (Thr1450Asn)"	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.210677081C>A"	""	"likely pathogenic"	""
"0000178701"	"1"	"70"	"2"	"211541805"	"211541805"	"subst"	"0"	"00006"	"CPS1_000028"	"g.211541805C>A"	"23/31 cases"	"{PMID:Pearson 2001:11407344}, {OMIM608307:0006}"	""	"4332C>A (T1405N) (Thr1450Asn)"	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.210677081C>A"	""	"likely pathogenic"	""
"0000178702"	"1"	"70"	"2"	"211541805"	"211541805"	"subst"	"0"	"00006"	"CPS1_000028"	"g.211541805C>A"	"22/34 controls"	"{PMID:Pearson 2001:11407344}, {OMIM608307:0006}"	""	"4332C>A (T1405N) (Thr1450Asn)"	"Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message."	"Germline"	""	""	"0"	""	""	"g.210677081C>A"	""	"likely pathogenic"	""
"0000178703"	"0"	"90"	"2"	"211541813"	"211541813"	"subst"	"0"	"00006"	"CPS1_000221"	"g.211541813C>T"	""	"{PMID:Pekkala 2010:20578160}"	""	"4357C>T (R1453W)"	"CPSI expression studies reveal inactivation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210677089C>T"	""	"NA"	""
"0000178704"	"0"	"90"	"2"	"211541813"	"211541813"	"subst"	"0"	"00006"	"CPS1_000221"	"g.211541813C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"4357C>T (R1453W)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210677089C>T"	""	"pathogenic"	""
"0000178705"	"0"	"90"	"2"	"211541813"	"211541813"	"subst"	"0"	"00006"	"CPS1_000221"	"g.211541813C>T"	""	"{PMID:Pekkala 2010:20578160}"	""	"4357C>T (R1453W)"	"CpG dinucleotide; undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210677089C>T"	""	"pathogenic"	""
"0000178706"	"0"	"90"	"2"	"211541814"	"211541814"	"subst"	"0"	"00006"	"CPS1_000222"	"g.211541814G>A"	""	"{PMID:Pekkala 2010:20578160}"	""	"4358G>A (R1453Q)"	"CpG dinucleotide; <5% liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210677090G>A"	""	"pathogenic"	""
"0000178707"	"0"	"90"	"2"	"211541814"	"211541814"	"subst"	"0"	"00006"	"CPS1_000222"	"g.211541814G>A"	""	"{PMID:Pekkala 2010:20578160}"	""	"4358G>A (R1453Q)"	"CPSI expression studies reveal inactivation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210677090G>A"	""	"NA"	""
"0000178708"	"0"	"90"	"2"	"211541841"	"211541841"	"subst"	"0"	"00006"	"CPS1_000223"	"g.211541841C>G"	""	"{PMID:Häberle 2011:21120950}"	""	"4385C>G (P1462R)"	""	"Germline"	""	""	"0"	""	""	"g.210677117C>G"	""	"pathogenic"	""
"0000178709"	"0"	"90"	"2"	"211541857"	"211541857"	"dup"	"0"	"00006"	"CPS1_000224"	"g.211541857dup"	""	"{PMID:Eeds 2006:16737834}"	""	"4397_4398insT (Q1468SfsX8)"	""	"Germline"	""	""	"0"	""	""	"g.210677133dup"	""	"pathogenic"	""
"0000178710"	"0"	"90"	"2"	"211452775"	"211452775"	"subst"	"0"	"00006"	"CPS1_000242"	"g.211452775A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"622-7A>G (K207_D208insWQ)"	"affects acceptor splice site"	"Germline"	""	""	"0"	""	""	"g.210588051A>G"	""	"pathogenic"	""
"0000178711"	"0"	"90"	"2"	"211541861"	"211541861"	"subst"	"4.06388E-6"	"00006"	"CPS1_000240"	"g.211541861G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"4404+1G>A (L1426X)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210677137G>A"	""	"pathogenic"	""
"0000178712"	"0"	"90"	"2"	"211542602"	"211542602"	"subst"	"0"	"00006"	"CPS1_000241"	"g.211542602T>G"	""	"{PMID:Häberle 2011:21120950}"	""	"4405-9T>G (V1469IfsX2)"	""	"Germline"	""	""	"0"	""	""	"g.210677878T>G"	""	"pathogenic"	""
"0000178713"	"0"	"90"	"2"	"211542677"	"211542677"	"subst"	"0"	"00006"	"CPS1_000080"	"g.211542677T>C"	""	"{PMID:Pekkala 2010:20578160}"	""	"4471T>C (Y1491H)"	"CPSI expression studies show 50-fold decreased NAG affinity"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210677953T>C"	""	"NA"	""
"0000178714"	"2"	"90"	"2"	"211542677"	"211542677"	"subst"	"0"	"00006"	"CPS1_000080"	"g.211542677T>C"	""	"{PMID:Summar 1998:09686343}"	""	"4471T>C (Y1491H)"	""	"Germline"	""	""	"0"	""	""	"g.210677953T>C"	""	"pathogenic"	""
"0000178715"	"0"	"90"	"2"	"211447434"	"211454829"	""	"0"	"00006"	"CPS1_000000"	"g.(211447434_211454829)?"	""	"{PMID:Häberle 2011:21120950}"	""	"622_711del (D208_K236del30)"	"unknown variant genomic DNA"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000178716"	"1"	"90"	"2"	"211452794"	"211452794"	"subst"	"0"	"00006"	"CPS1_000059"	"g.211452794T>A"	""	"{PMID:Kurokawa 2007:17310273}"	""	"634T>A (Tyr212Asn)"	""	"Germline"	""	""	"0"	""	""	"g.210588070T>A"	""	"pathogenic"	""
"0000178717"	"0"	"90"	"2"	"211452831"	"211452831"	"subst"	"0"	"00006"	"CPS1_000092"	"g.211452831A>T"	""	"{PMID:Häberle 2011:21120950}"	""	"671A>T (D224V)"	""	"Germline"	""	""	"0"	""	""	"g.210588107A>T"	""	"pathogenic"	""
"0000178718"	"0"	"90"	"2"	"211452857"	"211452857"	"subst"	"1.2204E-5"	"00006"	"CPS1_000093"	"g.211452857C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"697C>T (R233C)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210588133C>T"	""	"pathogenic"	""
"0000178719"	"0"	"90"	"2"	"211452860"	"211452860"	"del"	"0"	"00006"	"CPS1_000094"	"g.211452860del"	""	"{PMID:Häberle 2011:21120950}"	""	"700delC (L234CfsX2)"	""	"Germline"	""	""	"0"	""	""	"g.210588136del"	""	"pathogenic"	""
"0000178720"	"2"	"90"	"2"	""	""	""	""	"00006"	"CPS1_000000"	"g.(?_g.211342487)_(211542710_?)del"	""	"{PMID:Summar 1998:09686343}"	""	""	"no 2nd allele found in cDNA"	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000178721"	"0"	"90"	"2"	"211452872"	"211452872"	"subst"	"0"	"00006"	"CPS1_000243"	"g.211452872G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"711+1G>A (D208_K236del30)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210588148G>A"	""	"pathogenic"	""
"0000178722"	"2"	"90"	"2"	"211453557"	"211457816"	"del"	"0"	"00006"	"CPS1_000000"	"g.211453557_211457816del"	""	"{PMID:Aoshima 2001:11474210}, {OMIM608307:0005}"	""	"g.117646_113441del (Arg238_Glu362del))"	"4.2-kb deletion exons 9-11, discrepancy description genomic DNA (ex8-11del) and cDNA (ex8-10del); undetectable hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210588833_210593092del"	""	"pathogenic"	""
"0000178723"	"0"	"90"	"2"	"211454830"	"211454830"	"subst"	"4.07226E-6"	"00006"	"CPS1_000225"	"g.211454830C>T"	""	"{PMID:Häberle 2003:12655559}"	""	"712C>T (R238X)"	"CpG dinucleotide; first nucleotide exon 9, effect on splicing unlikely"	"Germline"	""	""	"0"	""	""	"g.210590106C>T"	""	"pathogenic"	""
"0000178724"	"0"	"90"	"2"	"211454846"	"211454846"	"subst"	"4.07024E-6"	"00006"	"CPS1_000095"	"g.211454846A>C"	""	"{PMID:Häberle 2011:21120950}"	""	"728A>C (H243P)"	""	"Germline"	""	""	"0"	""	""	"g.210590122A>C"	""	"pathogenic"	""
"0000178725"	"0"	"90"	"2"	"211454849"	"211454849"	"del"	"0"	"00006"	"CPS1_000096"	"g.211454849del"	""	"{PMID:Eeds 2006:16737834}"	""	"731delT (L244X)"	""	"Germline"	""	""	"0"	""	""	"g.210590125del"	""	"pathogenic"	""
"0000178726"	"0"	"90"	"2"	"211454849"	"211454849"	"del"	"0"	"00006"	"CPS1_000096"	"g.211454849del"	""	"{PMID:Eeds 2006:16737834}"	""	"731delT (L244X)"	""	"Germline"	""	""	"0"	""	""	"g.210590125del"	""	"pathogenic"	""
"0000178727"	"0"	"90"	"2"	"211454891"	"211454891"	"subst"	"0"	"00006"	"CPS1_000097"	"g.211454891G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"773G>A (G258E)"	""	"Germline"	""	""	"0"	""	""	"g.210590167G>A"	""	"pathogenic"	""
"0000178728"	"1"	"10"	"2"	"211454900"	"211454900"	"subst"	"0"	"00006"	"CPS1_000003"	"g.211454900T>G"	"2/94"	"{PMID:Mitchell 2009:18666241}"	""	"782T>G"	""	"Germline"	""	""	"0"	""	""	"g.210590176T>G"	""	"benign"	""
"0000178729"	"0"	"90"	"2"	"211454906"	"211454906"	"subst"	"4.06769E-6"	"00006"	"CPS1_000098"	"g.211454906G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"788G>A (G263E)"	""	"Germline"	""	""	"0"	""	""	"g.210590182G>A"	""	"pathogenic"	""
"0000178730"	"1"	"90"	"2"	"211454958"	"211454958"	"subst"	"0"	"00006"	"CPS1_000022"	"g.211454958G>C"	""	"{PMID:Kurokawa 2007:17310273}"	""	"840G>C (Lys280Asn)"	"last nucleotide exon, donor splice site possibly affected; undetectable liver CPS activity; unknown pathogenic variant in 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.210590234G>C"	""	"pathogenic"	""
"0000178731"	"1"	"90"	"2"	""	""	""	""	"00006"	"CPS1_000000"	"g.(?_g.211342487)_(211542710_?)del"	""	"{PMID:Summar 1998:09686343}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000178732"	"11"	"90"	"2"	"211454958"	"211454958"	"subst"	"0"	"00006"	"CPS1_000022"	"g.211454958G>C"	""	"{PMID:Hoshide 1993:09711878}, {OMIM608307:0001}"	""	"840G>C"	"marked decrease CPS1 mRNA, 11% hepatic enzyme activity; sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.210590234G>C"	""	"pathogenic"	""
"0000178733"	"21"	"90"	"2"	"211454958"	"211454958"	"subst"	"0"	"00006"	"CPS1_000022"	"g.211454958G>C"	""	"{PMID:Hoshide 1993:09711878}, {OMIM608307:0001}"	""	"840G>C"	"marked decrease CPS1 mRNA, 11% hepatic enzyme activity; sporadic, consanguineous parents"	"Germline"	""	""	"0"	""	""	"g.210590234G>C"	""	"pathogenic"	""
"0000178734"	"1"	"90"	"2"	"211454958"	"211454958"	"subst"	"0"	"00006"	"CPS1_000022"	"g.211454958G>C"	""	"{PMID:Kurokawa 2007:17310273}"	""	"840G>C (Lys280Asn)"	"last nucleotide exon, donor splice site possibly affected; 11% CPS activity"	"Germline"	""	""	"0"	""	""	"g.210590234G>C"	""	"pathogenic"	""
"0000178735"	"2"	"90"	"2"	"211454958"	"211454958"	"subst"	"0"	"00006"	"CPS1_000022"	"g.211454958G>C"	""	"{PMID:Kurokawa 2007:17310273}"	""	"840G>C (Lys280Asn)"	"last nucleotide exon, donor splice site possibly affected; 11% CPS activity"	"Germline"	""	""	"0"	""	""	"g.210590234G>C"	""	"pathogenic"	""
"0000178736"	"1"	"90"	"2"	"211454958"	"211454958"	"subst"	"0"	"00006"	"CPS1_000022"	"g.211454958G>C"	""	"{PMID:Kurokawa 2007:17310273}"	""	"840G>C (Lys280Asn)"	"last nucleotide exon, donor splice site possibly affected; 6% CPS activity"	"Germline"	""	""	"0"	""	""	"g.210590234G>C"	""	"pathogenic"	""
"0000178737"	"0"	"90"	"2"	"211454958"	"211454958"	"subst"	"0"	"00006"	"CPS1_000022"	"g.211454958G>C"	""	"{PMID:Hoshide 1993:08486760}"	""	"840G>C (V278_K280delVRK)"	""	"Germline"	""	""	"0"	""	""	"g.210590234G>C"	""	"pathogenic"	""
"0000178738"	"0"	"90"	"2"	"211455531"	"211455531"	"del"	"0"	"00006"	"CPS1_000099"	"g.211455531del"	""	"{PMID:Häberle 2011:21120950}"	""	"848delA (E283GfsX16)"	""	"Germline"	""	""	"0"	""	""	"g.210590807del"	""	"pathogenic"	""
"0000178739"	"1"	"90"	"2"	"211455543"	"211455543"	"del"	"0"	"00006"	"CPS1_000060"	"g.211455543del"	""	"{PMID:Kurokawa 2007:17310273}"	""	"860delA (fsX)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210590819del"	""	"pathogenic"	""
"0000178740"	"0"	"90"	"2"	"211455549"	"211455549"	"del"	"0"	"00006"	"CPS1_000100"	"g.211455549del"	""	"{PMID:Häberle 2011:21120950}"	""	"866delC (P289HfsX10)"	""	"Germline"	""	""	"0"	""	""	"g.210590825del"	""	"pathogenic"	""
"0000178741"	"0"	"90"	"2"	"211455583"	"211455584"	"dup"	"0"	"00006"	"CPS1_000101"	"g.211455583_211455584dup"	""	"{PMID:Häberle 2011:21120950}"	""	"900_901dupAG (G301EfsX24)"	""	"Germline"	""	""	"0"	""	""	"g.210590859_210590860dup"	""	"pathogenic"	""
"0000178742"	"0"	"90"	"2"	"211421582"	"211421582"	"del"	"0"	"00006"	"CPS1_000027"	"g.211421582del"	""	"{PMID:Häberle 2011:21120950}"	""	"125delA"	""	"Germline"	""	""	"0"	""	""	"g.210556858del"	""	"pathogenic"	""
"0000178743"	"0"	"90"	"2"	"211455585"	"211455585"	"subst"	"0"	"00006"	"CPS1_000102"	"g.211455585G>A"	""	"{PMID:Eeds 2006:16737834}"	""	"902G>A (G301E)"	""	"Germline"	""	""	"0"	""	""	"g.210590861G>A"	""	"pathogenic"	""
"0000178744"	"1"	"70"	"2"	"211455594"	"211455594"	"subst"	"8.9711E-5"	"00006"	"CPS1_000063"	"g.211455594C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"911C>T (A304V)"	""	"Germline"	""	""	"0"	""	""	"g.210590870C>T"	""	"likely pathogenic"	""
"0000178745"	"0"	"90"	"2"	"211456557"	"211456557"	"subst"	"0"	"00006"	"CPS1_000105"	"g.211456557G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"950G>A (G317E)"	""	"Germline"	""	""	"0"	""	""	"g.210591833G>A"	""	"pathogenic"	""
"0000178746"	"1"	"70"	"2"	"211456599"	"211456599"	"subst"	"0"	"00006"	"CPS1_000064"	"g.211456599T>C"	""	"{PMID:Häberle 2011:21120950}"	""	"992T>C (I986T)"	""	"Germline"	""	""	"0"	""	""	"g.210591875T>C"	""	"likely pathogenic"	""
"0000178747"	"1"	"90"	"2"	"211456617"	"211456617"	"subst"	"0"	"00006"	"CPS1_000026"	"g.211456617A>G"	""	"{PMID:Aoshima 2001:11474210}, {OMIM608307:0004}"	""	"1010A>G (His337Arg)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210591893A>G"	""	"pathogenic"	""
"0000178749"	"0"	"90"	"2"	"211456617"	"211456617"	"subst"	"0"	"00006"	"CPS1_000026"	"g.211456617A>G"	""	"{PMID:Pekkala 2010:20578160}"	""	"1010A>G His337Arg)"	"CPSI expression studies show 70% decreased activity"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210591893A>G"	""	"NA"	""
"0000178752"	"1"	"10"	"2"	"211456637"	"211456637"	"subst"	"0.567521"	"00006"	"CPS1_000005"	"g.211456637A>G"	"0.309"	"{PMID:Mitchell 2009:18666241}"	""	"1030A>G"	""	"Germline"	""	""	"0"	""	""	"g.210591913A>G"	""	"benign"	""
"0000178756"	"1"	"10"	"2"	"211456639"	"211456639"	"subst"	"0.570894"	"00006"	"CPS1_000004"	"g.211456639C>T"	""	"{PMID:Mitchell 2009:18666241}"	""	"1032C>T (Thr344Ala )"	""	"Germline"	""	""	"0"	""	""	"g.210591915C>T"	""	"benign"	""
"0000178757"	"0"	"10"	"2"	"211456646"	"211456646"	"subst"	"0.000505862"	"00006"	"CPS1_000006"	"g.211456646G>T"	"2/94"	"{PMID:Mitchell 2009:18666241}"	""	"1039G>T (Ala347Ser )"	""	"Germline"	""	""	"0"	""	""	"g.210591922G>T"	""	"benign"	""
"0000178758"	"0"	"90"	"2"	"211456670"	"211456670"	"subst"	"0"	"00006"	"CPS1_000103"	"g.211456670A>G"	""	"{PMID:Eeds 2006:16737834}"	""	"1063A>G (N355D)"	""	"Germline"	""	""	"0"	""	""	"g.210591946A>G"	""	"pathogenic"	""
"0000178759"	"0"	"90"	"2"	"211456679"	"211456679"	"subst"	"8.19202E-6"	"00006"	"CPS1_000104"	"g.211456679G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"1072G>C (D358H)"	"CpG dinucleotide"	"Germline"	""	""	"0"	""	""	"g.210591955G>C"	""	"pathogenic"	""
"0000178760"	"0"	"90"	"2"	"211457602"	"211457602"	"subst"	"0"	"00006"	"CPS1_000228"	"g.211457602G>T"	""	"{PMID:Eeds 2006:16737834}"	""	""	"affects acceptor splice site"	"Germline"	""	""	"0"	""	""	"g.210592878G>T"	""	"pathogenic"	""
"0000178761"	"2"	"90"	"2"	"211457639"	"211457639"	"subst"	"0"	"00006"	"CPS1_000037"	"g.211457639C>T"	""	"{PMID:Aoshima 2001:11536261}"	""	"1123C>T (Gln375X)"	"6% hepatic enzyme activity"	"Germline"	""	""	"0"	""	""	"g.210592915C>T"	""	"pathogenic"	""
"0000178762"	"2"	"90"	"2"	"211457639"	"211457639"	"subst"	"0"	"00006"	"CPS1_000037"	"g.211457639C>T"	""	"{PMID:Kurokawa 2007:17310273}"	""	"1123C>T (Gln375X)"	"6% CPS activity"	"Germline"	""	""	"0"	""	""	"g.210592915C>T"	""	"pathogenic"	""
"0000178763"	"0"	"90"	"2"	"211457661"	"211457661"	"subst"	"3.6636E-5"	"00006"	"CPS1_000106"	"g.211457661C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"1145C>T (P382L)"	""	"Germline"	""	""	"0"	""	""	"g.210592937C>T"	""	"pathogenic"	""
"0000178764"	"0"	"90"	"2"	"211438023"	"211438023"	"subst"	"0"	"00006"	"CPS1_000025"	"g.211438023C>T"	""	"{PMID:Häberle 2011:21120950}"	""	"128C>T"	""	"Germline"	""	""	"0"	""	""	"g.210573299C>T"	""	"pathogenic"	""
"0000178765"	"0"	"90"	"2"	"211457681"	"211457681"	"subst"	"0"	"00006"	"CPS1_000229"	"g.211457681G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1164+1G>A (G363_E388del26)"	"affects donor splice site"	"Germline"	""	""	"0"	""	""	"g.210592957G>A"	""	"pathogenic"	""
"0000178766"	"0"	"90"	"2"	"211459233"	"211459233"	"subst"	"0"	"00006"	"CPS1_000107"	"g.211459233A>G"	""	"{PMID:Eeds 2006:16737834}"	""	"1166A>G (Y389C)"	""	"Germline"	""	""	"0"	""	""	"g.210594509A>G"	""	"pathogenic"	""
"0000178767"	"0"	"90"	"2"	"211459236"	"211459236"	"subst"	"0"	"00006"	"CPS1_000108"	"g.211459236T>G"	""	"{PMID:Eeds 2006:16737834}"	""	"1169T>G (L390R)"	""	"Germline"	""	""	"0"	""	""	"g.210594512T>G"	""	"pathogenic"	""
"0000178768"	"0"	"90"	"2"	"211459264"	"211459265"	"del"	"0"	"00006"	"CPS1_000109"	"g.211459264_211459265del"	""	"{PMID:Eeds 2006:16737834}"	""	"1195_1196delAA (K399EfsX22)"	""	"Germline"	""	""	"0"	""	""	"g.210594540_210594541del"	""	"pathogenic"	""
"0000178769"	"0"	"90"	"2"	"211459268"	"211459268"	"subst"	"2.04223E-5"	"00006"	"CPS1_000110"	"g.211459268G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"1201G>C (G401R)"	""	"Germline"	""	""	"0"	""	""	"g.210594544G>C"	""	"pathogenic"	""
"0000178770"	"1"	"90"	"2"	"211459335"	"211459335"	"subst"	"0"	"00006"	"CPS1_000076"	"g.211459335G>C"	""	"{PMID:Häberle 2003:12655559}"	""	"1263+5G>C (Y389_E421del)"	"affects donor splice site; undetectable liver CPSI activity"	"Germline"	""	""	"0"	""	""	"g.210594611G>C"	""	"pathogenic"	""
"0000178771"	"2"	"90"	"2"	"211459335"	"211459335"	"subst"	"0"	"00006"	"CPS1_000076"	"g.211459335G>C"	""	"{PMID:Häberle 2003:12655559}"	""	"1263+5G>C (Y389_E421del)"	"affects donor splice site; undetectable liver CPSI activity"	"Germline"	""	""	"0"	""	""	"g.210594611G>C"	""	"pathogenic"	""
"0000178772"	"0"	"90"	"2"	"211460238"	"211460238"	"subst"	"4.07488E-6"	"00006"	"CPS1_000111"	"g.211460238G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1291G>A (G431R)"	""	"Germline"	""	""	"0"	""	""	"g.210595514G>A"	""	"pathogenic"	""
"0000178773"	"0"	"90"	"2"	"211460242"	"211460242"	"subst"	"0"	"00006"	"CPS1_000112"	"g.211460242G>T"	""	"{PMID:Häberle 2011:21120950}"	""	"1295G>T (G432V)"	""	"Germline"	""	""	"0"	""	""	"g.210595518G>T"	""	"pathogenic"	""
"0000178774"	"0"	"90"	"2"	"211460259"	"211460259"	"subst"	"0"	"00006"	"CPS1_000113"	"g.211460259G>A"	""	"{PMID:Häberle 2011:21120950}"	""	"1312G>A (A438T)"	""	"Germline"	""	""	"0"	""	""	"g.210595535G>A"	""	"pathogenic"	""
"0000178775"	"1"	"90"	"2"	"211438025"	"211438025"	"subst"	"0"	"00006"	"CPS1_000024"	"g.211438025C>T"	""	"Ihara 1999 (HumGenet 105:375), {OMIM608307:0003}"	""	"130C>T"	"unknown pathogenic variant in 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.210573301C>T"	""	"pathogenic"	""
"0000178776"	"2"	"90"	"2"	"211460259"	"211460259"	"subst"	"0"	"00006"	"CPS1_000040"	"g.211460259G>C"	""	"{PMID:Kurokawa 2007:17310273}"	""	"1312G>C (Ala438Pro)"	""	"Germline"	""	""	"0"	""	""	"g.210595535G>C"	""	"pathogenic"	""
"0000178777"	"0"	"90"	"2"	"211460295"	"211460295"	"subst"	"0"	"00006"	"CPS1_000114"	"g.211460295A>G"	""	"{PMID:Häberle 2011:21120950}"	""	"1348A>G (K450E)"	""	"Germline"	""	""	"0"	""	""	"g.210595571A>G"	""	"pathogenic"	""
"0000178778"	"0"	"90"	"2"	"211464106"	"211464106"	"subst"	"4.07987E-6"	"00006"	"CPS1_000115"	"g.211464106T>G"	""	"{PMID:Funghini 2003:12955727}"	""	"1370T>G (V457G)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210599382T>G"	""	"pathogenic"	""
"0000178779"	"0"	"90"	"2"	"211464126"	"211464133"	"del"	"0"	"00006"	"CPS1_000116"	"g.211464126_211464133del"	""	"{PMID:Häberle 2011:21120950}"	""	"1390_1397delCCAAACAT (P464CfsX7"	""	"Germline"	""	""	"0"	""	""	"g.210599402_210599409del"	""	"pathogenic"	""
"0000178780"	"0"	"90"	"2"	"211464126"	"211464133"	"del"	"0"	"00006"	"CPS1_000116"	"g.211464126_211464133del"	""	"{PMID:Häberle 2011:21120950}"	""	"1390_1397delCCAAACAT"	"<2% liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210599402_210599409del"	""	"pathogenic"	""
"0000178781"	"0"	"90"	"2"	"211464148"	"211464148"	"subst"	"0"	"00006"	"CPS1_000117"	"g.211464148C>A"	""	"{PMID:Pekkala 2010:20578160}"	""	"1412C>A (T471N)"	"CPSI expression studies show 37 decrease NAG-affinity and 13-fold decrease activity at NAG saturation"	"In vitro (cloned)"	""	""	"0"	""	""	"g.210599424C>A"	""	"NA"	""
"0000178782"	"0"	"90"	"2"	"211464148"	"211464148"	"subst"	"0"	"00006"	"CPS1_000117"	"g.211464148C>A"	""	"{PMID:Pekkala 2010:20578160}"	""	"1412C>A (T471N)"	"undetectable liver CPS activity"	"Germline"	""	""	"0"	""	""	"g.210599424C>A"	""	"pathogenic"	""
"0000178783"	"0"	"90"	"2"	"211464149"	"211464149"	"dup"	"0"	"00006"	"CPS1_000118"	"g.211464149dup"	""	"{PMID:Häberle 2011:21120950}"	""	"1413_1414insC (N472QfsX2)"	""	"Germline"	""	""	"0"	""	""	"g.210599425dup"	""	"pathogenic"	""
"0000178784"	"0"	"90"	"2"	"211464168"	"211464168"	"subst"	"0"	"00006"	"CPS1_000119"	"g.211464168C>T"	""	"{PMID:Eeds 2006:16737834}"	""	"1432C>T (Q478X)"	""	"Germline"	""	""	"0"	""	""	"g.210599444C>T"	""	"pathogenic"	""
"0000178785"	"0"	"90"	"2"	"211464228"	"211464228"	"subst"	"0"	"00006"	"CPS1_000120"	"g.211464228G>C"	""	"{PMID:Häberle 2011:21120950}"	""	"1492G>C (A498P)"	""	"Germline"	""	""	"0"	""	""	"g.210599504G>C"	""	"pathogenic"	""
"0000245621"	"0"	"10"	"2"	"211541721"	"211541721"	"subst"	"0.0330124"	"02330"	"CPS1_000021"	"g.211541721A>G"	""	""	""	"CPS1(NM_001122633.2):c.4293-10A>G, CPS1(NM_001122633.3):c.4275-10A>G, CPS1(NM_001875.5):c.4275-10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210676997A>G"	""	"benign"	""
"0000245629"	"0"	"10"	"2"	"211456637"	"211456637"	"subst"	"0.567521"	"02330"	"CPS1_000005"	"g.211456637A>G"	""	""	""	"CPS1(NM_001122633.2):c.1048A>G (p.T350A), CPS1(NM_001875.5):c.1030A>G (p.T344A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210591913A>G"	""	"benign"	""
"0000245736"	"0"	"10"	"2"	"211503856"	"211503856"	"subst"	"0.0260421"	"02330"	"CPS1_000012"	"g.211503856A>G"	""	""	""	"CPS1(NM_001122633.3):c.2830-18A>G, CPS1(NM_001875.5):c.2830-18A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210639132A>G"	""	"benign"	""
"0000245933"	"0"	"10"	"2"	"211507404"	"211507404"	"del"	"0"	"02330"	"CPS1_000256"	"g.211507404del"	""	""	""	"CPS1(NM_001875.5):c.3141+15delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210642680del"	""	"benign"	""
"0000247919"	"0"	"10"	"2"	"211456637"	"211456637"	"subst"	"0.567521"	"02325"	"CPS1_000005"	"g.211456637A>G"	""	""	""	"CPS1(NM_001122633.2):c.1048A>G (p.T350A), CPS1(NM_001875.5):c.1030A>G (p.T344A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210591913A>G"	""	"benign"	""
"0000250677"	"0"	"10"	"2"	"211541721"	"211541721"	"subst"	"0.0330124"	"02326"	"CPS1_000021"	"g.211541721A>G"	""	""	""	"CPS1(NM_001122633.2):c.4293-10A>G, CPS1(NM_001122633.3):c.4275-10A>G, CPS1(NM_001875.5):c.4275-10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210676997A>G"	""	"benign"	""
"0000250977"	"0"	"10"	"2"	"211503856"	"211503856"	"subst"	"0.0260421"	"02326"	"CPS1_000012"	"g.211503856A>G"	""	""	""	"CPS1(NM_001122633.3):c.2830-18A>G, CPS1(NM_001875.5):c.2830-18A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210639132A>G"	""	"benign"	""
"0000252067"	"0"	"30"	"2"	"211457723"	"211457723"	"del"	"0"	"02326"	"CPS1_000252"	"g.211457723del"	""	""	""	"CPS1(NM_001122633.3):c.1164+43delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210592999del"	""	"likely benign"	""
"0000253029"	"0"	"10"	"2"	"211541721"	"211541721"	"subst"	"0.0330124"	"01943"	"CPS1_000021"	"g.211541721A>G"	""	""	""	"CPS1(NM_001122633.2):c.4293-10A>G, CPS1(NM_001122633.3):c.4275-10A>G, CPS1(NM_001875.5):c.4275-10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210676997A>G"	""	"benign"	""
"0000253180"	"0"	"10"	"2"	"211456637"	"211456637"	"subst"	"0.567521"	"01943"	"CPS1_000005"	"g.211456637A>G"	""	""	""	"CPS1(NM_001122633.2):c.1048A>G (p.T350A), CPS1(NM_001875.5):c.1030A>G (p.T344A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210591913A>G"	""	"benign"	""
"0000264976"	"0"	"10"	"2"	"211342472"	"211342472"	"subst"	"0.0152699"	"02330"	"CPS1_000244"	"g.211342472G>A"	""	""	""	"CPS1(NM_001122633.3):c.-34G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210477748G>A"	""	"benign"	""
"0000264977"	"0"	"10"	"2"	"211421429"	"211421429"	"subst"	"0.0117193"	"02330"	"CPS1_000246"	"g.211421429T>G"	""	""	""	"CPS1(NM_001875.5):c.-29T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210556705T>G"	""	"benign"	""
"0000264978"	"0"	"10"	"2"	"211456639"	"211456639"	"subst"	"0.570894"	"02330"	"CPS1_000004"	"g.211456639C>T"	""	""	""	"CPS1(NM_001122633.2):c.1050C>T (p.T350=), CPS1(NM_001875.5):c.1032C>T (p.T344=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210591915C>T"	""	"benign"	""
"0000264980"	"0"	"50"	"2"	"211438049"	"211438049"	"subst"	"0.000101579"	"02330"	"CPS1_000249"	"g.211438049G>A"	""	""	""	"CPS1(NM_001875.5):c.154G>A (p.D52N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210573325G>A"	""	"VUS"	""
"0000264981"	"0"	"10"	"2"	"211473070"	"211473070"	"subst"	"0.126215"	"02330"	"CPS1_000007"	"g.211473070G>T"	""	""	""	"CPS1(NM_001122633.2):c.2211-15G>T, CPS1(NM_001875.5):c.2193-15G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210608346G>T"	""	"benign"	""
"0000264982"	"0"	"10"	"2"	"211473301"	"211473301"	"subst"	"0.00410798"	"02330"	"CPS1_000254"	"g.211473301T>G"	""	""	""	"CPS1(NM_001875.5):c.2391+18T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210608577T>G"	""	"benign"	""
"0000264983"	"0"	"10"	"2"	"211481257"	"211481257"	"subst"	"0.577164"	"02330"	"CPS1_000010"	"g.211481257C>G"	""	""	""	"CPS1(NM_001122633.2):c.2697C>G (p.G899=), CPS1(NM_001875.5):c.2679C>G (p.G893=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210616533C>G"	""	"benign"	""
"0000264984"	"0"	"10"	"2"	"211342502"	"211342502"	"subst"	"0.51248"	"02330"	"CPS1_000245"	"g.211342502G>A"	""	""	""	"CPS1(NM_001122633.2):c.3+12G>A, CPS1(NM_001122633.3):c.-16+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210477778G>A"	""	"benign"	""
"0000264985"	"0"	"10"	"2"	"211521242"	"211521242"	"del"	"0"	"02330"	"CPS1_000258"	"g.211521242del"	""	""	""	"CPS1(NM_001122633.3):c.3559-7delT, CPS1(NM_001875.5):c.3559-7delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210656518del"	""	"benign"	""
"0000264986"	"0"	"10"	"2"	"211521241"	"211521242"	"del"	"0"	"02330"	"CPS1_000257"	"g.211521241_211521242del"	""	""	""	"CPS1(NM_001875.5):c.3559-8_3559-7delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210656517_210656518del"	""	"benign"	""
"0000264987"	"0"	"30"	"2"	"211527839"	"211527839"	"del"	"0"	"02330"	"CPS1_000263"	"g.211527839del"	""	""	""	"CPS1(NM_001122633.3):c.3928-8delT, CPS1(NM_001369257.1):c.3928-8delT, CPS1(NM_001875.5):c.3928-8delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210663115del"	""	"likely benign"	""
"0000264988"	"0"	"30"	"2"	"211527838"	"211527839"	"del"	"0"	"02330"	"CPS1_000262"	"g.211527838_211527839del"	""	""	""	"CPS1(NM_001122633.3):c.3928-9_3928-8delTT, CPS1(NM_001875.5):c.3928-9_3928-8delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210663114_210663115del"	""	"likely benign"	""
"0000264991"	"0"	"10"	"2"	"211539650"	"211539650"	"subst"	"0.0131415"	"02330"	"CPS1_000019"	"g.211539650G>A"	""	""	""	"CPS1(NM_001875.5):c.4126G>A (p.G1376S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210674926G>A"	""	"benign"	""
"0000264992"	"0"	"10"	"2"	"211540507"	"211540507"	"subst"	"0.304277"	"02330"	"CPS1_000020"	"g.211540507C>A"	""	""	""	"CPS1(NM_001122633.2):c.4235C>A (p.T1412N), CPS1(NM_001875.5):c.4217C>A (p.T1406N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210675783C>A"	""	"benign"	""
"0000264993"	"0"	"10"	"2"	"211454814"	"211454814"	"subst"	"0.0011035"	"02330"	"CPS1_000251"	"g.211454814T>C"	""	""	""	"CPS1(NM_001875.5):c.712-16T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210590090T>C"	""	"benign"	""
"0000267108"	"0"	"10"	"2"	"211456639"	"211456639"	"subst"	"0.570894"	"02325"	"CPS1_000004"	"g.211456639C>T"	""	""	""	"CPS1(NM_001122633.2):c.1050C>T (p.T350=), CPS1(NM_001875.5):c.1032C>T (p.T344=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210591915C>T"	""	"benign"	""
"0000267110"	"0"	"10"	"2"	"211481257"	"211481257"	"subst"	"0.577164"	"02325"	"CPS1_000010"	"g.211481257C>G"	""	""	""	"CPS1(NM_001122633.2):c.2697C>G (p.G899=), CPS1(NM_001875.5):c.2679C>G (p.G893=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210616533C>G"	""	"benign"	""
"0000267111"	"0"	"50"	"2"	"211441128"	"211441128"	"subst"	"4.47147E-5"	"02325"	"CPS1_000250"	"g.211441128C>A"	""	""	""	"CPS1(NM_001875.5):c.295C>A (p.P99T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210576404C>A"	""	"VUS"	""
"0000267112"	"0"	"10"	"2"	"211521242"	"211521242"	"del"	"0"	"02325"	"CPS1_000259"	"g.211521242del"	""	""	""	"CPS1(NM_001122633.3):c.3559-7delT, CPS1(NM_001875.5):c.3559-7delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210656518del"	""	"benign"	""
"0000270567"	"0"	"10"	"2"	"211521242"	"211521242"	"del"	"0"	"02326"	"CPS1_000258"	"g.211521242del"	""	""	""	"CPS1(NM_001122633.3):c.3559-7delT, CPS1(NM_001875.5):c.3559-7delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210656518del"	""	"benign"	""
"0000270568"	"0"	"30"	"2"	"211527839"	"211527839"	"del"	"0"	"02326"	"CPS1_000263"	"g.211527839del"	""	""	""	"CPS1(NM_001122633.3):c.3928-8delT, CPS1(NM_001369257.1):c.3928-8delT, CPS1(NM_001875.5):c.3928-8delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210663115del"	""	"likely benign"	""
"0000270569"	"0"	"30"	"2"	"211527838"	"211527839"	"del"	"0"	"02326"	"CPS1_000262"	"g.211527838_211527839del"	""	""	""	"CPS1(NM_001122633.3):c.3928-9_3928-8delTT, CPS1(NM_001875.5):c.3928-9_3928-8delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210663114_210663115del"	""	"likely benign"	""
"0000274367"	"0"	"10"	"2"	"211456639"	"211456639"	"subst"	"0.570894"	"01943"	"CPS1_000004"	"g.211456639C>T"	""	""	""	"CPS1(NM_001122633.2):c.1050C>T (p.T350=), CPS1(NM_001875.5):c.1032C>T (p.T344=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210591915C>T"	""	"benign"	""
"0000274369"	"0"	"10"	"2"	"211473070"	"211473070"	"subst"	"0.126215"	"01943"	"CPS1_000007"	"g.211473070G>T"	""	""	""	"CPS1(NM_001122633.2):c.2211-15G>T, CPS1(NM_001875.5):c.2193-15G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210608346G>T"	""	"benign"	""
"0000274370"	"0"	"10"	"2"	"211481257"	"211481257"	"subst"	"0.577164"	"01943"	"CPS1_000010"	"g.211481257C>G"	""	""	""	"CPS1(NM_001122633.2):c.2697C>G (p.G899=), CPS1(NM_001875.5):c.2679C>G (p.G893=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210616533C>G"	""	"benign"	""
"0000274371"	"0"	"10"	"2"	"211342502"	"211342502"	"subst"	"0.51248"	"01943"	"CPS1_000245"	"g.211342502G>A"	""	""	""	"CPS1(NM_001122633.2):c.3+12G>A, CPS1(NM_001122633.3):c.-16+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210477778G>A"	""	"benign"	""
"0000274372"	"0"	"10"	"2"	"211540507"	"211540507"	"subst"	"0.304277"	"01943"	"CPS1_000020"	"g.211540507C>A"	""	""	""	"CPS1(NM_001122633.2):c.4235C>A (p.T1412N), CPS1(NM_001875.5):c.4217C>A (p.T1406N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210675783C>A"	""	"benign"	""
"0000274373"	"0"	"10"	"2"	"211442212"	"211442212"	"subst"	"0.00643599"	"01943"	"CPS1_000001"	"g.211442212G>A"	""	""	""	"CPS1(NM_001875.4):c.449G>A (p.G150E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210577488G>A"	""	"benign"	""
"0000337472"	"0"	"10"	"2"	"211342502"	"211342502"	"subst"	"0.51248"	"02327"	"CPS1_000245"	"g.211342502G>A"	""	""	""	"CPS1(NM_001122633.2):c.3+12G>A, CPS1(NM_001122633.3):c.-16+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210477778G>A"	""	"benign"	""
"0000341009"	"0"	"10"	"2"	"211456639"	"211456639"	"subst"	"0.570894"	"02327"	"CPS1_000004"	"g.211456639C>T"	""	""	""	"CPS1(NM_001122633.2):c.1050C>T (p.T350=), CPS1(NM_001875.5):c.1032C>T (p.T344=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210591915C>T"	""	"benign"	""
"0000347904"	"0"	"70"	"2"	"211476845"	"211476845"	"subst"	"0"	"02327"	"CPS1_000266"	"g.211476845T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210612121T>C"	""	"likely pathogenic"	""
"0000349464"	"0"	"10"	"2"	"211456637"	"211456637"	"subst"	"0.567521"	"02327"	"CPS1_000005"	"g.211456637A>G"	""	""	""	"CPS1(NM_001122633.2):c.1048A>G (p.T350A), CPS1(NM_001875.5):c.1030A>G (p.T344A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.210591913A>G"	""	"benign"	""
"0000351686"	"0"	"70"	"2"	"211464148"	"211464148"	"subst"	"0"	"01741"	"CPS1_000267"	"g.211464148C>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.210599424C>T"	""	"likely pathogenic"	""
"0000458834"	"3"	"50"	"2"	"211523343"	"211523343"	"subst"	"0.00088124"	"00006"	"CPS1_000268"	"g.211523343G>T"	""	"{DOI:Reynhout 2019:10.1016/j.ajhg.2019.01.009}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.210658619G>T"	""	"VUS"	""
"0000514082"	"0"	"10"	"2"	"211421454"	"211421455"	"ins"	"0"	"01943"	"CPS1_000269"	"g.211421454_211421455insTTC"	""	""	""	"CPS1(NM_001122633.2):c.15_16insTTC (p.I5_K6insF), CPS1(NM_001122633.3):c.-4_-3insTTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210556730_210556731insTTC"	""	"benign"	""
"0000514083"	"0"	"10"	"2"	"211421454"	"211421455"	"ins"	"0"	"02327"	"CPS1_000269"	"g.211421454_211421455insTTC"	""	""	""	"CPS1(NM_001122633.2):c.15_16insTTC (p.I5_K6insF), CPS1(NM_001122633.3):c.-4_-3insTTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210556730_210556731insTTC"	""	"benign"	""
"0000514084"	"0"	"10"	"2"	"211421454"	"211421455"	"ins"	"0"	"02325"	"CPS1_000269"	"g.211421454_211421455insTTC"	""	""	""	"CPS1(NM_001122633.2):c.15_16insTTC (p.I5_K6insF), CPS1(NM_001122633.3):c.-4_-3insTTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210556730_210556731insTTC"	""	"benign"	""
"0000514085"	"0"	"10"	"2"	"211421454"	"211421455"	"ins"	"0"	"02330"	"CPS1_000269"	"g.211421454_211421455insTTC"	""	""	""	"CPS1(NM_001122633.2):c.15_16insTTC (p.I5_K6insF), CPS1(NM_001122633.3):c.-4_-3insTTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210556730_210556731insTTC"	""	"benign"	""
"0000514086"	"0"	"70"	"2"	"211441089"	"211441089"	"subst"	"1.21983E-5"	"02325"	"CPS1_000270"	"g.211441089G>A"	""	""	""	"CPS1(NM_001875.5):c.256G>A (p.D86N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210576365G>A"	""	"likely pathogenic"	""
"0000514088"	"0"	"10"	"2"	"211444452"	"211444452"	"subst"	"0.00338701"	"02330"	"CPS1_000271"	"g.211444452T>C"	""	""	""	"CPS1(NM_001875.4):c.486T>C (p.Y162=), CPS1(NM_001875.5):c.486T>C (p.Y162=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210579728T>C"	""	"benign"	""
"0000514089"	"0"	"30"	"2"	"211444452"	"211444452"	"subst"	"0.00338701"	"01943"	"CPS1_000271"	"g.211444452T>C"	""	""	""	"CPS1(NM_001875.4):c.486T>C (p.Y162=), CPS1(NM_001875.5):c.486T>C (p.Y162=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210579728T>C"	""	"likely benign"	""
"0000514090"	"0"	"30"	"2"	"211447337"	"211447337"	"subst"	"0.000634771"	"01943"	"CPS1_000272"	"g.211447337A>T"	""	""	""	"CPS1(NM_001875.4):c.529-4A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210582613A>T"	""	"likely benign"	""
"0000514091"	"0"	"10"	"2"	"211456637"	"211456637"	"subst"	"0.00363751"	"02330"	"CPS1_000273"	"g.211456637A>T"	""	""	""	"CPS1(NM_001875.5):c.1030A>T (p.T344S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210591913A>T"	""	"benign"	""
"0000514093"	"0"	"30"	"2"	"211457632"	"211457632"	"subst"	"0.000386669"	"02330"	"CPS1_000274"	"g.211457632C>T"	""	""	""	"CPS1(NM_001875.5):c.1116C>T (p.F372=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210592908C>T"	""	"likely benign"	""
"0000514094"	"0"	"10"	"2"	"211460313"	"211460313"	"subst"	"0.00204577"	"02330"	"CPS1_000275"	"g.211460313G>A"	""	""	""	"CPS1(NM_001875.5):c.1359+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210595589G>A"	""	"benign"	""
"0000514095"	"0"	"50"	"2"	"211471475"	"211471475"	"subst"	"1.2234E-5"	"01804"	"CPS1_000276"	"g.211471475C>G"	""	""	""	"CPS1(NM_001122633.2):c.2020C>G (p.(Pro674Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210606751C>G"	""	"VUS"	""
"0000514096"	"0"	"30"	"2"	"211471671"	"211471671"	"subst"	"0.000560841"	"02326"	"CPS1_000277"	"g.211471671A>T"	""	""	""	"CPS1(NM_001122633.3):c.2192+6A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210606947A>T"	""	"likely benign"	""
"0000514097"	"0"	"10"	"2"	"211473070"	"211473070"	"subst"	"0.126215"	"02327"	"CPS1_000007"	"g.211473070G>T"	""	""	""	"CPS1(NM_001122633.2):c.2211-15G>T, CPS1(NM_001875.5):c.2193-15G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210608346G>T"	""	"benign"	""
"0000514098"	"0"	"10"	"2"	"211473157"	"211473157"	"subst"	"0.0125945"	"02330"	"CPS1_000008"	"g.211473157C>A"	""	""	""	"CPS1(NM_001875.5):c.2265C>A (p.S755=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210608433C>A"	""	"benign"	""
"0000514099"	"0"	"10"	"2"	"211476897"	"211476897"	"subst"	"0.0187677"	"02330"	"CPS1_000009"	"g.211476897C>T"	""	""	""	"CPS1(NM_001122633.2):c.2466C>T (p.C822=), CPS1(NM_001122633.3):c.2448C>T (p.C816=), CPS1(NM_001875.5):c.2448C>T (p.C816=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210612173C>T"	""	"benign"	""
"0000514100"	"0"	"10"	"2"	"211476897"	"211476897"	"subst"	"0.0187677"	"01943"	"CPS1_000009"	"g.211476897C>T"	""	""	""	"CPS1(NM_001122633.2):c.2466C>T (p.C822=), CPS1(NM_001122633.3):c.2448C>T (p.C816=), CPS1(NM_001875.5):c.2448C>T (p.C816=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210612173C>T"	""	"benign"	""
"0000514101"	"0"	"10"	"2"	"211476897"	"211476897"	"subst"	"0.0187677"	"02326"	"CPS1_000009"	"g.211476897C>T"	""	""	""	"CPS1(NM_001122633.2):c.2466C>T (p.C822=), CPS1(NM_001122633.3):c.2448C>T (p.C816=), CPS1(NM_001875.5):c.2448C>T (p.C816=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210612173C>T"	""	"benign"	""
"0000514103"	"0"	"10"	"2"	"211481257"	"211481257"	"subst"	"0.577164"	"02327"	"CPS1_000010"	"g.211481257C>G"	""	""	""	"CPS1(NM_001122633.2):c.2697C>G (p.G899=), CPS1(NM_001875.5):c.2679C>G (p.G893=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210616533C>G"	""	"benign"	""
"0000514105"	"0"	"10"	"2"	"211513215"	"211513215"	"subst"	"0.00335011"	"02330"	"CPS1_000279"	"g.211513215G>A"	""	""	""	"CPS1(NM_001875.5):c.3355G>A (p.A1119T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210648491G>A"	""	"benign"	""
"0000514106"	"0"	"30"	"2"	"211518741"	"211518741"	"subst"	"0.00467457"	"01804"	"CPS1_000280"	"g.211518741C>T"	""	""	""	"CPS1(NM_001122633.2):c.3499-8C>T (p.(=)), CPS1(NM_001875.4):c.3481-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210654017C>T"	""	"likely benign"	""
"0000514107"	"0"	"30"	"2"	"211521243"	"211521249"	"del"	"3.3294E-5"	"01804"	"CPS1_000281"	"g.211521243_211521249del"	""	""	""	"CPS1(NM_001122633.2):c.3577-6_3577del (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210656519_210656525del"	""	"likely benign"	""
"0000514108"	"0"	"30"	"2"	"211521252"	"211521252"	"subst"	"0"	"01804"	"CPS1_000282"	"g.211521252A>T"	""	""	""	"CPS1(NM_001122633.2):c.3580A>T (p.(Ile1194Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210656528A>T"	""	"likely benign"	""
"0000514109"	"0"	"90"	"2"	"211525236"	"211525236"	"subst"	"4.0625E-6"	"01943"	"CPS1_000036"	"g.211525236C>T"	""	""	""	"CPS1(NM_001875.4):c.3784C>T (p.R1262*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210660512C>T"	""	"pathogenic"	""
"0000514110"	"0"	"30"	"2"	"211527830"	"211527830"	"subst"	"0"	"02330"	"CPS1_000283"	"g.211527830T>G"	""	""	""	"CPS1(NM_001875.5):c.3928-17T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210663106T>G"	""	"likely benign"	""
"0000514111"	"0"	"10"	"2"	"211527839"	"211527839"	"dup"	"0"	"02330"	"CPS1_000284"	"g.211527839dup"	""	""	""	"CPS1(NM_001875.5):c.3928-8dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210663115dup"	""	"benign"	""
"0000514112"	"0"	"30"	"2"	"211532907"	"211532907"	"subst"	"0"	"01943"	"CPS1_000285"	"g.211532907C>T"	""	""	""	"CPS1(NM_001875.4):c.4003-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210668183C>T"	""	"likely benign"	""
"0000514113"	"0"	"50"	"2"	"211532959"	"211532959"	"subst"	"0"	"01943"	"CPS1_000286"	"g.211532959T>G"	""	""	""	"CPS1(NM_001875.4):c.4052T>G (p.L1351R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210668235T>G"	""	"VUS"	""
"0000514115"	"0"	"10"	"2"	"211540487"	"211540487"	"subst"	"2.03247E-5"	"02330"	"CPS1_000287"	"g.211540487C>T"	""	""	""	"CPS1(NM_001875.5):c.4197C>T (p.N1399=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210675763C>T"	""	"benign"	""
"0000514116"	"0"	"10"	"2"	"211541864"	"211541864"	"subst"	"0.00302341"	"01943"	"CPS1_000288"	"g.211541864T>A"	""	""	""	"CPS1(NM_001875.4):c.4404+4T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210677140T>A"	""	"benign"	""
"0000578162"	"1"	"90"	"2"	"211471634"	"211471634"	"subst"	"4.0816E-6"	"00006"	"CPS1_000142"	"g.211471634C>T"	""	"{PMID:Haberle 2004:15164414}"	""	"R721X"	""	"Germline"	""	""	"0"	""	""	"g.210606910C>T"	""	"pathogenic (recessive)"	""
"0000578163"	"1"	"70"	"2"	"211533010"	"211533010"	"subst"	"4.06283E-6"	"00006"	"CPS1_000079"	"g.211533010T>C"	""	"{PMID:Haberle 2004:15164414}"	""	"Ivs34+2T>C"	""	"Germline"	""	""	"0"	""	""	"g.210668286T>C"	""	"pathogenic (recessive)"	""
"0000578164"	"3"	"90"	"2"	"211459335"	"211459335"	"subst"	"0"	"00006"	"CPS1_000076"	"g.211459335G>C"	""	"{PMID:Haberle 2004:15164414}"	""	"Ivs12+5G>C"	""	"Germline"	""	""	"0"	""	""	"g.210594611G>C"	""	"pathogenic (recessive)"	""
"0000578165"	"3"	"90"	"2"	"211471590"	"211471624"	"dup"	"0"	"00006"	"CPS1_000139"	"g.211471590_211471624dup"	""	"{PMID:Haberle 2004:15164414}"	""	"2115ins35bp"	""	"Germline"	""	""	"0"	""	""	"g.210606866_210606900dup"	""	"pathogenic (recessive)"	""
"0000578173"	"1"	"50"	"2"	"211476977"	"211476977"	"subst"	"0"	"00006"	"CPS1_000066"	"g.211476977T>C"	""	"{PMID:Haberle 2004:15164414}"	""	"R721X/L843S"	""	"Germline"	""	""	"0"	""	""	"g.210612253T>C"	""	"VUS"	""
"0000578174"	"2"	"90"	"2"	"211481201"	"211481201"	"subst"	"0.00217567"	"00006"	"CPS1_000065"	"g.211481201A>G"	""	"{PMID:Haberle 2004:15164414}"	""	"K875E"	""	"Germline"	""	""	"0"	""	""	"g.210616477A>G"	""	"pathogenic (recessive)"	""
"0000578175"	"2"	"70"	"2"	"211518827"	"211518827"	"subst"	"0"	"00006"	"CPS1_000078"	"g.211518827G>C"	""	"{PMID:Haberle 2004:15164414}"	""	"Ivs29+1G>C"	""	"Germline"	""	""	"0"	""	""	"g.210654103G>C"	""	"pathogenic (recessive)"	""
"0000607413"	"0"	"30"	"2"	"211473244"	"211473244"	"subst"	"0.000394938"	"01943"	"CPS1_000289"	"g.211473244A>G"	""	""	""	"CPS1(NM_001875.4):c.2352A>G (p.T784=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210608520A>G"	""	"likely benign"	""
"0000629268"	"21"	"90"	"2"	"211469818"	"211469818"	"subst"	"0"	"00006"	"CPS1_000231"	"g.211469818A>G"	"1/113 cases"	"{PMID:Pronicka 2016:27290639}"	""	"NM_001875.4:c.1837-8A>G"	""	"Germline"	""	""	"0"	""	""	"g.210605094A>G"	""	"pathogenic (recessive)"	""
"0000629293"	"1"	"90"	"2"	"211460236"	"211460236"	"subst"	"0"	"00006"	"CPS1_000290"	"g.211460236C>G"	"1/113 cases"	"{PMID:Pronicka 2016:27290639}"	""	"NM_001875.4:c.1289C>G"	"moderate genotype/phenotype correlation"	"Germline"	""	""	"0"	""	""	"g.210595512C>G"	""	"pathogenic (recessive)"	""
"0000629336"	"11"	"90"	"2"	"211523347"	"211523347"	"subst"	"0"	"00006"	"CPS1_000291"	"g.211523347G>C"	"1/113 cases"	"{PMID:Pronicka 2016:27290639}"	""	"NM_001875.4:c.3691G>C"	""	"Germline"	""	""	"0"	""	""	"g.210658623G>C"	""	"pathogenic"	""
"0000629344"	"2"	"90"	"2"	"211527891"	"211527891"	"del"	"0"	"00006"	"CPS1_000292"	"g.211527891del"	"1/113 cases"	"{PMID:Pronicka 2016:27290639}"	""	"NM_001875.4:c.3971_3972delT"	""	"Germline"	""	""	"0"	""	""	"g.210663167del"	""	"pathogenic"	""
"0000650416"	"1"	"10"	"2"	"211342472"	"211342472"	"subst"	"0.0152699"	"03575"	"CPS1_000244"	"g.211342472G>A"	"3/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"3 heterozygous, no homozygous; {DB:CLININrs111491997}"	"Germline"	""	"rs111491997"	"0"	""	""	"g.210477748G>A"	""	"benign"	""
"0000650417"	"1"	"90"	"2"	"211444453"	"211444453"	"subst"	"0.000191127"	"03575"	"CPS1_000293"	"g.211444453G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs200214298}"	"Germline"	""	"rs200214298"	"0"	""	""	"g.210579729G>A"	""	"pathogenic"	""
"0000650418"	"1"	"90"	"2"	"211469902"	"211469902"	"subst"	"0"	"03575"	"CPS1_000131"	"g.211469902G>C"	"1/2791 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs757205958.1}"	"Germline"	""	"rs757205958"	"0"	""	""	"g.210605178G>C"	""	"pathogenic"	""
"0000650419"	"1"	"30"	"2"	"211476897"	"211476897"	"subst"	"0.0187677"	"03575"	"CPS1_000009"	"g.211476897C>T"	"29/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"29 heterozygous, no homozygous; {DB:CLININrs75395645}"	"Germline"	""	"rs75395645"	"0"	""	""	"g.210612173C>T"	""	"likely benign"	""
"0000654504"	"0"	"30"	"2"	"211441167"	"211441167"	"subst"	"0.000264152"	"01943"	"CPS1_000294"	"g.211441167C>T"	""	""	""	"CPS1(NM_001875.4):c.334C>T (p.L112=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210576443C>T"	""	"likely benign"	""
"0000654505"	"0"	"30"	"2"	"211502467"	"211502467"	"subst"	"0"	"01943"	"CPS1_000295"	"g.211502467T>C"	""	""	""	"CPS1(NM_001875.4):c.2729T>C (p.I910T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210637743T>C"	""	"likely benign"	""
"0000654506"	"0"	"50"	"2"	"211507258"	"211507258"	"subst"	"1.62558E-5"	"02325"	"CPS1_000296"	"g.211507258C>T"	""	""	""	"CPS1(NM_001875.5):c.3010C>T (p.R1004C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210642534C>T"	""	"VUS"	""
"0000654507"	"0"	"30"	"2"	"211521244"	"211521244"	"del"	"0.00146494"	"02330"	"CPS1_000297"	"g.211521244del"	""	""	""	"CPS1(NM_001875.4):c.3559-5delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.210656520del"	""	"likely benign"	""
"0000673573"	"1"	"70"	"2"	"211504762"	"211504762"	"subst"	"0"	"03695"	"CPS1_000299"	"g.211504762G>A"	""	""	""	"NM_001875.4:c.2938G>A"	""	"Germline"	""	""	"0"	""	""	"g.210640038G>A"	""	"likely pathogenic (recessive)"	""
"0000673574"	"2"	"90"	"2"	"211471635"	"211471635"	"subst"	"1.63271E-5"	"03695"	"CPS1_000298"	"g.211471635G>A"	""	""	""	"NM_001875.4:c.2162G>A"	""	"Germline"	""	""	"0"	""	""	"g.210606911G>A"	""	"pathogenic (recessive)"	""
"0000673956"	"2"	"90"	"2"	"211525218"	"211525218"	"subst"	"0"	"03695"	"CPS1_000301"	"g.211525218C>T"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"pathogenic"	""
"0000673957"	"2"	"70"	"2"	"211523372"	"211523372"	"subst"	"0"	"03695"	"CPS1_000300"	"g.211523372T>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000676456"	"0"	"30"	"2"	"211476870"	"211476870"	"subst"	"0.000329595"	"01943"	"CPS1_000302"	"g.211476870G>A"	""	""	""	"CPS1(NM_001875.4):c.2421G>A (p.E807=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676457"	"0"	"90"	"2"	"211540566"	"211540566"	"subst"	"4.06825E-6"	"02325"	"CPS1_000303"	"g.211540566T>C"	""	""	""	"CPS1(NM_001875.5):c.4274+2T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000688612"	"0"	"50"	"2"	"211523339"	"211523339"	"subst"	"3.65485E-5"	"01943"	"CPS1_000204"	"g.211523339G>A"	""	""	""	"CPS1(NM_001875.4):c.3683G>A (p.R1228Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688613"	"0"	"30"	"2"	"211540463"	"211540463"	"subst"	"8.9436E-5"	"02325"	"CPS1_000304"	"g.211540463G>A"	""	""	""	"CPS1(NM_001875.5):c.4173G>A (p.T1391=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000718409"	"0"	"30"	"2"	"211456549"	"211456549"	"subst"	"0.000179289"	"01943"	"CPS1_000305"	"g.211456549C>T"	""	""	""	"CPS1(NM_001875.4):c.948-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000718410"	"0"	"50"	"2"	"211469907"	"211469907"	"subst"	"0.00034621"	"01943"	"CPS1_000132"	"g.211469907G>T"	""	""	""	"CPS1(NM_001875.4):c.1918G>T (p.A640S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000718411"	"0"	"30"	"2"	"211518833"	"211518833"	"subst"	"3.25061E-5"	"01943"	"CPS1_000306"	"g.211518833G>A"	""	""	""	"CPS1(NM_001875.4):c.3558+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000718412"	"0"	"50"	"2"	"211521333"	"211521333"	"subst"	"0.00158367"	"01943"	"CPS1_000054"	"g.211521333A>G"	""	""	""	"CPS1(NM_001875.4):c.3643A>G (p.I1215V, p.(Ile1215Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800294"	"0"	"30"	"2"	"211454901"	"211454901"	"subst"	"0.00130171"	"01943"	"CPS1_000307"	"g.211454901C>T"	""	""	""	"CPS1(NM_001875.4):c.783C>T (p.I261=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800295"	"0"	"30"	"2"	"211512716"	"211512716"	"subst"	"2.03206E-5"	"01943"	"CPS1_000308"	"g.211512716A>G"	""	""	""	"CPS1(NM_001875.4):c.3271A>G (p.I1091V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800296"	"0"	"50"	"2"	"211540542"	"211540542"	"subst"	"0.000886381"	"01943"	"CPS1_000309"	"g.211540542C>T"	""	""	""	"CPS1(NM_001875.4):c.4252C>T (p.P1418S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000849668"	"0"	"50"	"2"	"211454831"	"211454831"	"subst"	"0.000342028"	"01943"	"CPS1_000310"	"g.211454831G>A"	""	""	""	"CPS1(NM_001875.4):c.713G>A (p.R238Q), CPS1(NM_001875.5):c.713G>A (p.(Arg238Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000858253"	"0"	"30"	"2"	"211456646"	"211456646"	"subst"	"0.000505862"	"01943"	"CPS1_000006"	"g.211456646G>T"	""	""	""	"CPS1(NM_001875.4):c.1039G>T (p.A347S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858254"	"0"	"30"	"2"	"211457616"	"211457616"	"subst"	"8.14445E-6"	"01943"	"CPS1_000311"	"g.211457616A>C"	""	""	""	"CPS1(NM_001875.4):c.1100A>C (p.E367A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858255"	"0"	"50"	"2"	"211465321"	"211465321"	"subst"	"0"	"02327"	"CPS1_000122"	"g.211465321T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000858256"	"0"	"70"	"2"	"211469818"	"211469818"	"subst"	"0"	"02327"	"CPS1_000231"	"g.211469818A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000858257"	"0"	"10"	"2"	"211503856"	"211503856"	"subst"	"0.0260421"	"02327"	"CPS1_000012"	"g.211503856A>G"	""	""	""	"CPS1(NM_001122633.3):c.2830-18A>G, CPS1(NM_001875.5):c.2830-18A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000858258"	"0"	"30"	"2"	"211518741"	"211518741"	"subst"	"0.00467457"	"01943"	"CPS1_000280"	"g.211518741C>T"	""	""	""	"CPS1(NM_001122633.2):c.3499-8C>T (p.(=)), CPS1(NM_001875.4):c.3481-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858259"	"0"	"10"	"2"	"211540507"	"211540507"	"subst"	"0.304277"	"02327"	"CPS1_000020"	"g.211540507C>A"	""	""	""	"CPS1(NM_001122633.2):c.4235C>A (p.T1412N), CPS1(NM_001875.5):c.4217C>A (p.T1406N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000858260"	"0"	"50"	"2"	"211542691"	"211542691"	"del"	"0"	"01943"	"CPS1_000312"	"g.211542691del"	""	""	""	"CPS1(NM_001875.4):c.4485delT (p.S1495Rfs*25)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000884703"	"0"	"90"	"2"	"211459335"	"211459335"	"subst"	"0"	"02329"	"CPS1_000076"	"g.211459335G>C"	""	""	""	"CPS1(NM_001369257.1):c.1263+5G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000884704"	"0"	"30"	"2"	"211507277"	"211507277"	"subst"	"0.00124336"	"02326"	"CPS1_000255"	"g.211507277C>T"	""	""	""	"CPS1(NM_001875.4):c.3029C>T (p.T1010M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000884705"	"0"	"10"	"2"	"211541864"	"211541864"	"subst"	"0.00302341"	"02326"	"CPS1_000288"	"g.211541864T>A"	""	""	""	"CPS1(NM_001875.4):c.4404+4T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000931832"	"0"	"50"	"2"	"211469898"	"211469898"	"subst"	"0"	"04541"	"CPS1_000313"	"g.211469898G>A"	""	""	""	"g.211469898A>G"	""	"Germline"	""	""	"0"	""	""	"g.210605192A>G"	""	"VUS"	"ACMG"
"0000931833"	"0"	"50"	"2"	"211473267"	"211473267"	"subst"	"0"	"04541"	"CPS1_000314"	"g.211473267T>G"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.210608543T>G"	""	"VUS"	"ACMG"
"0000931834"	"0"	"70"	"2"	"211515125"	"211515125"	"subst"	"0"	"04541"	"CPS1_000315"	"g.211515125T>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.210650401T>A"	""	"likely pathogenic (recessive)"	""
"0000931835"	"0"	"70"	"2"	"211523390"	"211523390"	"subst"	"0"	"04541"	"CPS1_000316"	"g.211523390T>A"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.210658666T>A"	""	"likely pathogenic"	"ACMG"
"0000931836"	"0"	"90"	"2"	"211525236"	"211525236"	"subst"	"4.0625E-6"	"04541"	"CPS1_000036"	"g.211525236C>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.210660512C>T"	""	"pathogenic"	"ACMG"
"0000974891"	"0"	"50"	"2"	"211452797"	"211452797"	"subst"	"0.000894782"	"01804"	"CPS1_000317"	"g.211452797G>A"	""	""	""	"CPS1(NM_001875.5):c.637G>A (p.(Gly213Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974892"	"0"	"50"	"2"	"211454831"	"211454831"	"subst"	"0.000342028"	"01804"	"CPS1_000310"	"g.211454831G>A"	""	""	""	"CPS1(NM_001875.4):c.713G>A (p.R238Q), CPS1(NM_001875.5):c.713G>A (p.(Arg238Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974893"	"0"	"50"	"2"	"211457613"	"211457613"	"subst"	"0"	"01804"	"CPS1_000318"	"g.211457613A>G"	""	""	""	"CPS1(NM_001875.5):c.1097A>G (p.(His366Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974894"	"0"	"50"	"2"	"211465402"	"211465402"	"subst"	"0"	"01804"	"CPS1_000319"	"g.211465402A>G"	""	""	""	"CPS1(NM_001875.5):c.1673A>G (p.(Asn558Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000974895"	"0"	"50"	"2"	"211521324"	"211521324"	"subst"	"2.43649E-5"	"01804"	"CPS1_000320"	"g.211521324A>G"	""	""	""	"CPS1(NM_001875.5):c.3634A>G (p.(Thr1212Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000985864"	"1"	"90"	"2"	"211476998"	"211476998"	"subst"	"0"	"00006"	"CPS1_000321"	"g.211476998G>T"	""	"{PMID:Martin-Hernandez 2014:25433810}"	""	""	"no variant 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.210612274G>T"	""	"pathogenic (dominant)"	""
"0000992411"	"0"	"50"	"2"	"211518806"	"211518806"	"subst"	"4.46748E-5"	"01804"	"CPS1_000322"	"g.211518806G>A"	""	""	""	"CPS1(NM_001875.4):c.3538G>A (p.(Ala1180Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000992412"	"0"	"50"	"2"	"211521333"	"211521333"	"subst"	"0.00158367"	"01804"	"CPS1_000054"	"g.211521333A>G"	""	""	""	"CPS1(NM_001875.4):c.3643A>G (p.I1215V, p.(Ile1215Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032927"	"0"	"50"	"2"	"211441150"	"211441150"	"subst"	"4.06415E-6"	"01804"	"CPS1_000323"	"g.211441150C>T"	""	""	""	"CPS1(NM_001875.5):c.317C>T (p.(Ala106Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032928"	"0"	"50"	"2"	"211476895"	"211476895"	"subst"	"0"	"01804"	"CPS1_000324"	"g.211476895T>G"	""	""	""	"CPS1(NM_001875.5):c.2446T>G (p.(Cys816Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032929"	"0"	"70"	"2"	"211512711"	"211512711"	"subst"	"4.06445E-6"	"01804"	"CPS1_000325"	"g.211512711G>A"	""	""	""	"CPS1(NM_001875.5):c.3266G>A (p.(Arg1089His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""


## 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 CPS1
## Count = 579
"{{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}}"
"0000178444"	"00005620"	"90"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(Gln50*)"	"3"
"0000178445"	"00005620"	"90"	"1547"	"0"	"1547"	"0"	"c.1547del"	"r.(?)"	"p.(Gly516AlafsTer5)"	"15"
"0000178446"	"00005620"	"90"	"1547"	"0"	"1547"	"0"	"c.1547del"	"r.(?)"	"p.(Gly516AlafsTer5)"	"15"
"0000178447"	"00005620"	"90"	"1547"	"0"	"1547"	"0"	"c.1547del"	"r.(?)"	"p.(Gly516AlafsTer5)"	"15"
"0000178448"	"00005620"	"90"	"1547"	"0"	"1547"	"0"	"c.1547del"	"r.(?)"	"p.(Gly516AlafsTer5)"	"15"
"0000178449"	"00005620"	"90"	"1547"	"0"	"1547"	"0"	"c.1547del"	"r.(?)"	"p.(Gly516AlafsTer5)"	"15"
"0000178450"	"00005620"	"90"	"1547"	"0"	"1547"	"0"	"c.1547del"	"r.(?)"	"p.(Gly516AlafsTer5)"	"15"
"0000178451"	"00005620"	"90"	"1547"	"0"	"1547"	"0"	"c.1547del"	"r.(?)"	"p.(Gly516AlafsTer5)"	"15"
"0000178452"	"00005620"	"90"	"1567"	"1"	"1567"	"1"	"c.1567+1G>T"	"r.1438_1567del"	"p.Val480Glufs*15"	"15i"
"0000178453"	"00005620"	"90"	"1610"	"0"	"1610"	"0"	"c.1610T>A"	"r.(?)"	"p.(Val537Glu)"	"16"
"0000178454"	"00005620"	"90"	"1610"	"0"	"1610"	"0"	"c.1610T>G"	"r.(?)"	"p.(Val537Gly)"	"16"
"0000178455"	"00005620"	"90"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(Gln50*)"	"3"
"0000178456"	"00005620"	"90"	"1633"	"0"	"1633"	"0"	"c.1633G>T"	"r.(?)"	"p.(Glu545*)"	"16"
"0000178457"	"00005620"	"90"	"1649"	"0"	"1649"	"0"	"c.1649C>T"	"r.(?)"	"p.(Thr550Met)"	"16"
"0000178458"	"00005620"	"90"	"1649"	"0"	"1649"	"0"	"c.1649C>T"	"r.(?)"	"p.(Thr550Met)"	"16"
"0000178459"	"00005620"	"90"	"1649"	"0"	"1649"	"0"	"c.1649C>T"	"r.(?)"	"p.(Thr550Met)"	"16"
"0000178460"	"00005620"	"90"	"1649"	"0"	"1649"	"0"	"c.1649C>T"	"r.(?)"	"p.(Thr550Met)"	"16"
"0000178461"	"00005620"	"90"	"1777"	"0"	"1777"	"0"	"c.1777C>T"	"r.(?)"	"p.(Arg593Cys)"	"17"
"0000178462"	"00005620"	"90"	"1777"	"0"	"1777"	"0"	"c.1777C>T"	"r.(?)"	"p.(Arg593Cys)"	"17"
"0000178463"	"00005620"	"90"	"1777"	"0"	"1777"	"0"	"c.1777C>T"	"r.(?)"	"p.(Arg593Cys)"	"17"
"0000178464"	"00005620"	"90"	"1778"	"0"	"1778"	"0"	"c.1778G>A"	"r.(?)"	"p.(Arg593His)"	"17"
"0000178465"	"00005620"	"90"	"1778"	"0"	"1778"	"0"	"c.1778G>A"	"r.(?)"	"p.(Arg593His)"	"17"
"0000178466"	"00005620"	"90"	"172"	"0"	"178"	"0"	"c.172_178del"	"r.(?)"	"p.(Asp58Leufs*3)"	"3"
"0000178467"	"00005620"	"90"	"1778"	"0"	"1778"	"0"	"c.1778G>A"	"r.(?)"	"p.(Arg593His)"	"17"
"0000178468"	"00005620"	"90"	"1778"	"0"	"1778"	"0"	"c.1778G>A"	"r.(?)"	"p.(Arg593His)"	"17"
"0000178469"	"00005620"	"90"	"1778"	"0"	"1778"	"0"	"c.1778G>A"	"r.(?)"	"p.(Arg593His)"	"17"
"0000178470"	"00005620"	"90"	"1778"	"0"	"1778"	"0"	"c.1778G>T"	"r.(?)"	"p.(Arg593Leu)"	"17"
"0000178471"	"00005620"	"90"	"1783"	"0"	"1783"	"0"	"c.1783G>A"	"r.(?)"	"p.(Ala595Thr)"	"17"
"0000178472"	"00005620"	"90"	"1788"	"0"	"1788"	"0"	"c.1788T>G"	"r.(?)"	"p.(Tyr596*)"	"17"
"0000178473"	"00005620"	"90"	"1795"	"0"	"1795"	"0"	"c.1795G>C"	"r.(?)"	"p.(Gly599Arg)"	"17"
"0000178474"	"00005620"	"90"	"1808"	"0"	"1808"	"0"	"c.1808C>T"	"r.(?)"	"p.(Ser603Leu)"	"17"
"0000178475"	"00005620"	"90"	"1855"	"-8"	"1855"	"-8"	"c.1855-8A>G"	"r.1854_1855ins1855-7_1855-1"	"p.Ala619Phefs*25"	"17i"
"0000178476"	"00005620"	"90"	"1882"	"0"	"1882"	"0"	"c.1882G>A"	"r.(?)"	"p.(Val628Met)"	"18"
"0000178477"	"00005620"	"90"	"191"	"0"	"191"	"0"	"c.191G>A"	"r.(?)"	"p.(Gly64Asp)"	"3"
"0000178478"	"00005620"	"90"	"1901"	"0"	"1901"	"0"	"c.1901G>A"	"r.(?)"	"p.(Gly634Asp)"	"18"
"0000178479"	"00005620"	"90"	"1901"	"0"	"1901"	"0"	"c.1901G>A"	"r.(?)"	"p.(Gly634Asp)"	"18"
"0000178480"	"00005620"	"90"	"1913"	"0"	"1913"	"0"	"c.1913T>G"	"r.(?)"	"p.(Ile638Arg)"	"18"
"0000178481"	"00005620"	"90"	"1931"	"0"	"1931"	"0"	"c.1931G>C"	"r.(?)"	"p.(Arg644Pro)"	"18"
"0000178482"	"00005620"	"90"	"1936"	"0"	"1936"	"0"	"c.1936G>T"	"r.(?)"	"p.(Ala646Ser)"	"18"
"0000178483"	"00005620"	"90"	"1961"	"0"	"1961"	"0"	"c.1961G>A"	"r.(?)"	"p.(Cys654Tyr)"	"18"
"0000178484"	"00005620"	"90"	"1969"	"0"	"1969"	"0"	"c.1969G>A"	"r.(?)"	"p.(Glu657Lys)"	"18"
"0000178485"	"00005620"	"90"	"1979"	"0"	"1979"	"0"	"c.1979A>T"	"r.(?)"	"p.(Asp660Val)"	"18"
"0000178486"	"00005620"	"90"	"1992"	"0"	"1992"	"0"	"c.1992del"	"r.(?)"	"p.(His665Thrfs*22)"	"18"
"0000178487"	"00005620"	"90"	"1999"	"2"	"1999"	"2"	"c.1999+2T>G"	"r.1855_1999del"	"p.Ala619Valfs*20"	"18i"
"0000178488"	"00005620"	"90"	"212"	"0"	"212"	"0"	"c.212C>T"	"r.(?)"	"p.(Ser71Phe)"	"3"
"0000178489"	"00005620"	"90"	"2039"	"0"	"2039"	"0"	"c.2039A>T"	"r.(?)"	"p.(Asn680Ile)"	"19"
"0000178490"	"00005620"	"90"	"2040"	"0"	"2040"	"0"	"c.2040T>A"	"r.(?)"	"p.(Asn680Lys)"	"19"
"0000178491"	"00005620"	"90"	"2051"	"0"	"2051"	"0"	"c.2051A>C"	"r.(?)"	"p.(Gln684Pro)"	"19"
"0000178492"	"00005620"	"90"	"2051"	"0"	"2051"	"0"	"c.2051A>C"	"r.(?)"	"p.(Gln684Pro)"	"19"
"0000178493"	"00005620"	"90"	"2111"	"0"	"2111"	"0"	"c.2111A>G"	"r.(?)"	"p.(Asn704Ser)"	"19"
"0000178494"	"00005620"	"90"	"2111"	"0"	"2111"	"0"	"c.2111A>G"	"r.(?)"	"p.(Asn704Ser)"	"19"
"0000178495"	"00005620"	"90"	"2135"	"0"	"2169"	"0"	"c.2135_2169dup"	"r.(?)"	"p.(Arg724Profs*10)"	"19"
"0000178496"	"00005620"	"90"	"2166"	"0"	"2166"	"0"	"c.2166T>A"	"r.(?)"	"p.(Asn722Lys)"	"19"
"0000178497"	"00005620"	"90"	"2166"	"0"	"2166"	"0"	"c.2166T>A"	"r.(?)"	"p.(Asn722Lys)"	"19"
"0000178498"	"00005620"	"90"	"2166"	"0"	"2166"	"0"	"c.2166T>A"	"r.(?)"	"p.(Asn722Lys)"	"19"
"0000178499"	"00005620"	"90"	"230"	"0"	"230"	"0"	"c.230T>G"	"r.(?)"	"p.(Val77Gly)"	"3"
"0000178500"	"00005620"	"90"	"2166"	"0"	"2166"	"0"	"c.2166T>A"	"r.(?)"	"p.(Asn722Lys)"	"19"
"0000178501"	"00005620"	"90"	"2166"	"0"	"2166"	"0"	"c.2166T>A"	"r.(?)"	"p.(Asn722Lys)"	"19"
"0000178502"	"00005620"	"90"	"2166"	"0"	"2166"	"0"	"c.2166T>A"	"r.(?)"	"p.(Asn722Lys)"	"19"
"0000178503"	"00005620"	"90"	"2171"	"0"	"2171"	"0"	"c.2171G>A"	"r.(?)"	"p.(Arg724Lys)"	"19"
"0000178504"	"00005620"	"90"	"2171"	"0"	"2171"	"0"	"c.2171G>A"	"r.(?)"	"p.(Arg724Lys)"	"19"
"0000178505"	"00005620"	"90"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Arg727*)"	"19"
"0000178506"	"00005620"	"90"	"2180"	"0"	"2180"	"0"	"c.2180G>A"	"r.(?)"	"p.(Arg727Gln)"	"19"
"0000178507"	"00005620"	"90"	"2188"	"0"	"2188"	"0"	"c.2188G>C"	"r.(?)"	"p.(Ala730Pro)"	"19"
"0000178508"	"00005620"	"90"	"2188"	"0"	"2191"	"0"	"c.2188_2191delinsCCA"	"r.(?)"	"p.(Ala730ProfsTer20)"	"19"
"0000178509"	"00005620"	"90"	"2191"	"0"	"2191"	"0"	"c.2191del"	"r.(?)"	"p.(Leu731Trpfs*19)"	"19"
"0000178510"	"00005620"	"90"	"254"	"0"	"254"	"0"	"c.254G>A"	"r.(spl?)"	"p.(Gly85Glu?)"	"3"
"0000178511"	"00005620"	"90"	"2194"	"0"	"2194"	"0"	"c.2194G>A"	"r.(?)"	"p.(Ala732Thr)"	"19"
"0000178513"	"00005620"	"10"	"2211"	"-15"	"2211"	"-15"	"c.2211-15G>T"	"r.(?)"	"p.(=)"	"19i"
"0000178514"	"00005620"	"90"	"2245"	"0"	"2245"	"0"	"c.2245del"	"r.(?)"	"p.(Leu749*)"	"20"
"0000178515"	"00005620"	"90"	"2270"	"0"	"2270"	"0"	"c.2270del"	"r.(?)"	"p.(Lys757Argfs*42)"	"20"
"0000178517"	"00005620"	"10"	"2283"	"0"	"2283"	"0"	"c.2283C>A"	"r.(?)"	"p.(=)"	"20"
"0000178518"	"00005620"	"90"	"2301"	"0"	"2305"	"0"	"c.2301_2305delinsA"	"r.(?)"	"p.(Cys767*)"	"20"
"0000178519"	"00005620"	"90"	"2318"	"0"	"2318"	"0"	"c.2318A>T"	"r.(?)"	"p.(Asp773Val)"	"20"
"0000178520"	"00005620"	"90"	"2339"	"0"	"2339"	"0"	"c.2339C>T"	"r.(?)"	"p.(Pro780Leu)"	"20"
"0000178521"	"00005620"	"90"	"254"	"6"	"254"	"6"	"c.254+6T>C"	"r.(spl?)"	"p.(?)"	"3i"
"0000178522"	"00005620"	"90"	"2339"	"0"	"2339"	"0"	"c.2339C>T"	"r.(?)"	"p.(Pro780Leu)"	"20"
"0000178523"	"00005620"	"90"	"2356"	"0"	"2356"	"0"	"c.2356del"	"r.(?)"	"p.(Arg786Valfs*13)"	"20"
"0000178524"	"00005620"	"90"	"2357"	"0"	"2357"	"0"	"c.2357G>A"	"r.(?)"	"p.(Arg786His)"	"20"
"0000178525"	"00005620"	"90"	"2357"	"0"	"2357"	"0"	"c.2357G>A"	"r.(?)"	"p.(Arg786His)"	"20"
"0000178526"	"00005620"	"90"	"2377"	"0"	"2377"	"0"	"c.2377C>T"	"r.(?)"	"p.(Arg793*)"	"20"
"0000178527"	"00005620"	"90"	"2377"	"0"	"2377"	"0"	"c.2377C>T"	"r.(?)"	"p.(Arg793*)"	"20"
"0000178528"	"00005620"	"90"	"2377"	"0"	"2377"	"0"	"c.2377C>T"	"r.(?)"	"p.(Arg793*)"	"20"
"0000178529"	"00005620"	"90"	"2394"	"0"	"2394"	"0"	"c.2394G>C"	"r.(?)"	"p.(Met798Ile)"	"20"
"0000178530"	"00005620"	"90"	"2423"	"0"	"2423"	"0"	"c.2423del"	"r.(?)"	"p.(Gly808Valfs*19)"	"21"
"0000178531"	"00005620"	"90"	"2425"	"0"	"2425"	"0"	"c.2425C>A"	"r.(?)"	"p.(Arg809Ser)"	"21"
"0000178532"	"00005620"	"90"	"277"	"0"	"277"	"0"	"c.277C>T"	"r.(?)"	"p.(Pro93Ser)"	"4"
"0000178533"	"00005620"	"90"	"2425"	"0"	"2425"	"0"	"c.2425C>G"	"r.(?)"	"p.(Arg809Gly)"	"21"
"0000178534"	"00005620"	"90"	"2425"	"0"	"2425"	"0"	"c.2425C>G"	"r.(?)"	"p.(Arg809Gly)"	"21"
"0000178535"	"00005620"	"90"	"2425"	"0"	"2425"	"0"	"c.2425C>T"	"r.(?)"	"p.(Arg809Cys)"	"21"
"0000178536"	"00005620"	"90"	"2431"	"0"	"2431"	"0"	"c.2431T>C"	"r.(?)"	"p.(Phe811Leu)"	"21"
"0000178537"	"00005620"	"90"	"2432"	"0"	"2432"	"0"	"c.2432T>C"	"r.(?)"	"p.(Phe811Ser)"	"21"
"0000178538"	"00005620"	"90"	"2447"	"0"	"2447"	"0"	"c.2447A>G"	"r.(?)"	"p.(Gln816Arg)"	"21"
"0000178539"	"00005620"	"90"	"2447"	"0"	"2447"	"0"	"c.2447A>G"	"r.(?)"	"p.(Gln816Arg)"	"21"
"0000178540"	"00005620"	"90"	"2458"	"0"	"2458"	"0"	"c.2458C>T"	"r.(?)"	"p.(Arg820Trp)"	"21"
"0000178541"	"00005620"	"90"	"2458"	"0"	"2458"	"0"	"c.2458C>T"	"r.(?)"	"p.(Arg820Trp)"	"21"
"0000178542"	"00005620"	"90"	"2464"	"0"	"2464"	"0"	"c.2464T>C"	"r.(?)"	"p.(Cys822Arg)"	"21"
"0000178543"	"00005620"	"90"	"277"	"0"	"277"	"0"	"c.277C>T"	"r.(?)"	"p.(Arg809Cys)"	"4"
"0000178544"	"00005620"	"10"	"2466"	"0"	"2466"	"0"	"c.2466C>T"	"r.(?)"	"p.(Cys822Cys)"	"21"
"0000178545"	"00005620"	"90"	"2511"	"0"	"2512"	"0"	"c.2511_2512insT"	"r.(?)"	"p.(fs*)"	"21"
"0000178546"	"00005620"	"90"	"2512"	"0"	"2512"	"0"	"c.2512delinsAA"	"r.(?)"	"p.(Glu838LysfsTer5)"	"21"
"0000178547"	"00005620"	"70"	"2546"	"0"	"2546"	"0"	"c.2546T>C"	"r.(?)"	"p.(Leu849Ser)"	"21"
"0000178548"	"00005620"	"90"	"2566"	"0"	"2566"	"0"	"c.2566C>T"	"r.(?)"	"p.(Arg856Cys)"	"21"
"0000178549"	"00005620"	"90"	"2567"	"0"	"2567"	"0"	"c.2567G>A"	"r.(?)"	"p.(Arg856His)"	"21"
"0000178550"	"00005620"	"90"	"2567"	"0"	"2567"	"0"	"c.2567G>A"	"r.(?)"	"p.(Arg856His)"	"21"
"0000178551"	"00005620"	"70"	"2641"	"0"	"2641"	"0"	"c.2641A>G"	"r.(?)"	"p.(Lys881Glu)"	"22"
"0000178553"	"00005620"	"10"	"2697"	"0"	"2697"	"0"	"c.2697C>G"	"r.(?)"	"p.(Gly899Gly)"	"22"
"0000178555"	"00005620"	"90"	"277"	"0"	"277"	"0"	"c.277C>T"	"r.(?)"	"p.(Pro93Ser)"	"4"
"0000178556"	"00005620"	"90"	"2737"	"0"	"2739"	"0"	"c.2737_2739delinsCC"	"r.(?)"	"p.(Ala913Profs*25)"	"23"
"0000178557"	"00005620"	"90"	"2750"	"0"	"2750"	"0"	"c.2750G>A"	"r.(?)"	"p.(Gly917Glu)"	"23"
"0000178558"	"00005620"	"90"	"2750"	"0"	"2750"	"0"	"c.2750G>T"	"r.(?)"	"p.(Gly917Val)"	"23"
"0000178559"	"00005620"	"90"	"2756"	"0"	"2756"	"0"	"c.2756C>T"	"r.(?)"	"p.(Ser919Leu)"	"23"
"0000178560"	"00005620"	"90"	"2758"	"0"	"2758"	"0"	"c.2758G>C"	"r.(?)"	"p.(Asp920His)"	"23"
"0000178561"	"00005620"	"90"	"2759"	"0"	"2759"	"0"	"c.2759A>G"	"r.(?)"	"p.(Asp920Gly)"	"23"
"0000178562"	"00005620"	"90"	"2770"	"0"	"2770"	"0"	"c.2770T>C"	"r.(?)"	"p.(Ser924Pro)"	"23"
"0000178563"	"00005620"	"90"	"2813"	"0"	"2813"	"0"	"c.2813G>C"	"r.(?)"	"p.(Arg938Thr)"	"23"
"0000178564"	"00005620"	"90"	"2813"	"0"	"2813"	"0"	"c.2813G>C"	"r.(?)"	"p.(Arg938Thr)"	"23"
"0000178565"	"00005620"	"90"	"2816"	"0"	"2816"	"0"	"c.2816del"	"r.(?)"	"p.(Leu939*)"	"23"
"0000178566"	"00005620"	"90"	"283"	"0"	"283"	"0"	"c.283T>G"	"r.(?)"	"p.(Tyr95Asp)"	"4"
"0000178567"	"00005620"	"90"	"2827"	"0"	"2828"	"0"	"c.2827_2828del"	"r.(?)"	"p.(Ile937Profs*5)"	"23"
"0000178568"	"00005620"	"10"	"2848"	"-18"	"2848"	"-18"	"c.2848-18A>C"	"r.(?)"	"p.(=)"	"23i"
"0000178569"	"00005620"	"10"	"2848"	"-18"	"2848"	"-18"	"c.2848-18A>G"	"r.(?)"	"p.(=)"	"23i"
"0000178570"	"00005620"	"90"	"2863"	"0"	"2863"	"0"	"c.2863G>A"	"r.(?)"	"p.(Ala955Thr)"	"24"
"0000178571"	"00005620"	"90"	"2891"	"0"	"2891"	"0"	"c.2891T>C"	"r.(?)"	"p.(Leu964Pro)"	"24"
"0000178572"	"00005620"	"90"	"2894"	"0"	"2894"	"0"	"c.2894A>G"	"r.(?)"	"p.(Tyr965Cys)"	"24"
"0000178573"	"00005620"	"90"	"2894"	"0"	"2895"	"0"	"c.2894_2895del"	"r.(?)"	"p.(Tyr965Cysfs*9)"	"24"
"0000178574"	"00005620"	"90"	"2901"	"0"	"2913"	"0"	"c.2901_2913del"	"r.(?)"	"p.(Tyr968Serfs*11)"	"24"
"0000178575"	"00005620"	"90"	"2903"	"0"	"2903"	"0"	"c.2903A>G"	"r.(?)"	"p.(Tyr968Cys)"	"24"
"0000178576"	"00005620"	"90"	"2911"	"0"	"2911"	"0"	"c.2911C>T"	"r.(?)"	"p.(Gln971*)"	"24"
"0000178577"	"00005620"	"90"	"285"	"0"	"285"	"0"	"c.285C>G"	"r.(?)"	"p.(Tyr95*)"	"4"
"0000178578"	"00005620"	"90"	"2913"	"1"	"2913"	"1"	"c.2913+1G>A"	"r.2848_2914del"	"p.Ile950_Gln971del"	"24i"
"0000178579"	"00005620"	"90"	"2913"	"429"	"2978"	"-281"	"c.2913+429_2978-281del"	"r.2913_2977del"	"p.Glu972Alafs*27"	"24i_25i"
"0000178580"	"00005620"	"90"	"2951"	"0"	"2951"	"0"	"c.2951T>A"	"r.(?)"	"p.(Val984Glu)"	"25"
"0000178581"	"00005620"	"90"	"2962"	"0"	"2962"	"0"	"c.2962G>A"	"r.(?)"	"p.(Gly988Ser)"	"25"
"0000178582"	"00005620"	"90"	"2963"	"0"	"2963"	"0"	"c.2963G>A"	"r.(?)"	"p.(Gly988Asp)"	"25"
"0000178583"	"00005620"	"90"	"2963"	"0"	"2963"	"0"	"c.2963G>A"	"r.(?)"	"p.(Gly988Asp)"	"25"
"0000178584"	"00005620"	"90"	"2963"	"0"	"2963"	"0"	"c.2963G>A"	"r.(?)"	"p.(Gly988Asp)"	"25"
"0000178585"	"00005620"	"90"	"2963"	"0"	"2963"	"0"	"c.2963G>T"	"r.(?)"	"p.(Gly988Val)"	"25"
"0000178586"	"00005620"	"90"	"2968"	"0"	"2968"	"0"	"c.2968T>C"	"r.(?)"	"p.(Tyr990His)"	"25"
"0000178587"	"00005620"	"90"	"2977"	"0"	"2977"	"0"	"c.2977G>T"	"r.(spl?)"	"p.(Gly993Cys)"	"25"
"0000178588"	"00005620"	"90"	"324"	"0"	"329"	"0"	"c.324_329dup"	"r.(?)"	"p.(Asn109_Gly110dup)"	"4"
"0000178589"	"00005620"	"90"	"2993"	"0"	"2993"	"0"	"c.2993T>C"	"r.(?)"	"p.(Phe998Ser)"	"26"
"0000178590"	"00005620"	"90"	"3011"	"0"	"3011"	"0"	"c.3011C>T"	"r.(?)"	"p.(Ser1004Phe)"	"26"
"0000178591"	"00005620"	"90"	"3014"	"0"	"3016"	"0"	"c.3014_3016del"	"r.(?)"	"p.(Ser1005del)"	"26"
"0000178592"	"00005620"	"90"	"3055"	"0"	"3057"	"0"	"c.3055_3057del"	"r.(?)"	"p.(Val1017del)"	"26"
"0000178593"	"00005620"	"90"	"3055"	"0"	"3057"	"0"	"c.3055_3057del"	"r.(?)"	"p.(Val1017del)"	"26"
"0000178594"	"00005620"	"90"	"3062"	"0"	"3062"	"0"	"c.3062dup"	"r.(?)"	"p.(Cys1021Trpfs*4)"	"26"
"0000178595"	"00005620"	"90"	"3065"	"0"	"3065"	"0"	"c.3065A>G"	"r.(?)"	"p.(Asn1022Ser)"	"26"
"0000178596"	"00005620"	"90"	"3068"	"0"	"3068"	"0"	"c.3068C>T"	"r.(?)"	"p.(Pro1023Leu)"	"26"
"0000178597"	"00005620"	"90"	"3083"	"0"	"3083"	"0"	"c.3083C>T"	"r.(?)"	"p.(Thr1028Ile)"	"26"
"0000178598"	"00005620"	"90"	"3111"	"0"	"3111"	"0"	"c.3111C>A"	"r.(spl?)"	"p.(Tyr1037*)"	"26"
"0000178599"	"00005620"	"90"	"386"	"0"	"386"	"0"	"c.386C>T"	"r.(?)"	"p.(Ser129Phe)"	"4"
"0000178600"	"00005620"	"90"	"3119"	"0"	"3119"	"0"	"c.3119A>G"	"r.(?)"	"p.(Glu1040Gly)"	"26"
"0000178601"	"00005620"	"10"	"3159"	"15"	"3159"	"15"	"c.3159+15del"	"r.(=)"	"p.(=)"	"26i"
"0000178602"	"00005620"	"90"	"3170"	"0"	"3170"	"0"	"c.3170A>G"	"r.(?)"	"p.(His1051Arg)"	"26"
"0000178603"	"00005620"	"90"	"3177"	"0"	"3179"	"0"	"c.3177_3179del"	"r.(?)"	"p.(Ile1060del)"	"27"
"0000178604"	"00005620"	"90"	"3179"	"0"	"3179"	"0"	"c.3179T>G"	"r.(?)"	"p.(Ile1060Arg)"	"27"
"0000178605"	"00005620"	"90"	"3179"	"0"	"3179"	"0"	"c.3179T>G"	"r.(?)"	"p.(Ile1060Arg)"	"27"
"0000178606"	"00005620"	"90"	"3194"	"0"	"3194"	"0"	"c.3194A>G"	"r.(?)"	"p.(Gln1065Arg)"	"27"
"0000178607"	"00005620"	"90"	"3203"	"0"	"3203"	"0"	"c.3203del"	"r.(?)"	"p.(Asn1068Thrfs*38)"	"27"
"0000178608"	"00005620"	"90"	"3212"	"0"	"3212"	"0"	"c.3212C>A"	"r.(?)"	"p.(Ala1071Glu)"	"27"
"0000178609"	"00005620"	"90"	"3283"	"0"	"3283"	"0"	"c.3283C>T"	"r.(?)"	"p.(Arg1095Cys)"	"27"
"0000178610"	"00005620"	"90"	"386"	"0"	"386"	"0"	"c.386C>T"	"r.(?)"	"p.(Ser129Phe)"	"4"
"0000178611"	"00005620"	"90"	"3283"	"0"	"3283"	"0"	"c.3283C>T"	"r.(?)"	"p.(Arg1095Cys)"	"27"
"0000178612"	"00005620"	"90"	"3283"	"0"	"3283"	"0"	"c.3283C>T"	"r.(?)"	"p.(Arg1095Cys)"	"27"
"0000178613"	"00005620"	"90"	"3284"	"0"	"3284"	"0"	"c.3284G>T"	"r.(?)"	"p.(Arg1095Leu)"	"27"
"0000178614"	"00005620"	"90"	"3284"	"0"	"3284"	"0"	"c.3284G>T"	"r.(?)"	"p.(Arg1095Leu)"	"27"
"0000178615"	"00005620"	"90"	"3326"	"0"	"3326"	"0"	"c.3326A>G"	"r.(?)"	"p.(Gln1109Arg)"	"27"
"0000178616"	"00005620"	"90"	"3335"	"0"	"3335"	"0"	"c.3335G>A"	"r.(?)"	"p.(Trp1112*)"	"27"
"0000178617"	"00005620"	"90"	"3355"	"-1"	"3355"	"-1"	"c.3355-1G>T"	"r.3355_3422del"	"p.Asn1119Trpfs*10"	"27i"
"0000178618"	"00005620"	"90"	"3355"	"-4"	"3359"	"0"	"c.3355-4_3359dup{3355-1G>A}"	"r.(?)"	"p.(Glu1120delinsAsp*)"	"28"
"0000178619"	"00005620"	"90"	"3376"	"0"	"3377"	"0"	"c.3376_3377del"	"r.(?)"	"p.(Lys1126Valfs*25)"	"28"
"0000178621"	"00005620"	"90"	"424"	"0"	"427"	"0"	"c.424_427dup"	"r.(?)"	"p.(Ser143Ilefs*2)"	"5"
"0000178622"	"00005620"	"10"	"3423"	"-29"	"3423"	"-29"	"c.3423-29A>T"	"r.(?)"	"p.(=)"	"28i"
"0000178623"	"00005620"	"90"	"3440"	"0"	"3440"	"0"	"c.3440T>G"	"r.(?)"	"p.(Val1147Gly)"	"29"
"0000178624"	"00005620"	"90"	"3482"	"0"	"3482"	"0"	"c.3482C>A"	"r.(?)"	"p.(Ala1161Glu)"	"29"
"0000178625"	"00005620"	"90"	"3482"	"0"	"3482"	"0"	"c.3482C>T"	"r.(?)"	"p.(Ala1161Val)"	"29"
"0000178626"	"00005620"	"90"	"3502"	"0"	"3502"	"0"	"c.3502del"	"r.(?)"	"p.(His1168Thrfs*5)"	"30"
"0000178627"	"00005620"	"90"	"3538"	"0"	"3538"	"0"	"c.3538C>T"	"r.(?)"	"p.(Arg1180*)"	"30"
"0000178628"	"00005620"	"90"	"3576"	"1"	"3576"	"1"	"c.3576+1G>C"	"r.3499_3576del"	"p.Glu1167_Arg1192del"	"30i"
"0000178629"	"00005620"	"90"	"3577"	"-2"	"3577"	"-2"	"c.3577-2A>G"	"r.3559_3666del"	"p.Val1193_Lys1228del"	"30i"
"0000178630"	"00005620"	"90"	"3602"	"0"	"3602"	"0"	"c.3602A>C"	"r.(?)"	"p.(His1201Pro)"	"31"
"0000178631"	"00005620"	"90"	"3602"	"0"	"3602"	"0"	"c.3602A>C"	"r.(?)"	"p.(His1201Pro)"	"31"
"0000178632"	"00005620"	"90"	"438"	"0"	"438"	"0"	"c.438C>A"	"r.(?)"	"p.(Tyr146*)"	"5"
"0000178633"	"00005620"	"90"	"3625"	"0"	"3625"	"0"	"c.3625T>C"	"r.(?)"	"p.(Ser1209Pro)"	"31"
"0000178634"	"00005620"	"90"	"3625"	"0"	"3625"	"0"	"c.3625T>C"	"r.(?)"	"p.(Ser1209Pro)"	"31"
"0000178635"	"00005620"	"90"	"3626"	"0"	"3626"	"0"	"c.3626C>T"	"r.(?)"	"p.(Ser1209Leu)"	"31"
"0000178636"	"00005620"	"90"	"3631"	"0"	"3631"	"0"	"c.3631G>A"	"r.(?)"	"p.(Asp1211Asn)"	"31"
"0000178637"	"00005620"	"90"	"3661"	"0"	"3661"	"0"	"c.3661A>G"	"r.(?)"	"p.(Ile1221Val)"	"31"
"0000178638"	"00005620"	"90"	"3698"	"0"	"3699"	"0"	"c.3698_3699insTTTC"	"r.(?)"	"p.(Arg1234Phefs*24)"	"32"
"0000178639"	"00005620"	"90"	"3701"	"0"	"3701"	"0"	"c.3701G>A"	"r.(?)"	"p.(Arg1234Gln)"	"32"
"0000178640"	"00005620"	"90"	"3741"	"0"	"3741"	"0"	"c.3741C>A"	"r.(?)"	"p.(Asn1247Lys)"	"32"
"0000178641"	"00005620"	"90"	"3741"	"0"	"3741"	"0"	"c.3741C>A"	"r.(?)"	"p.(Asn1247Lys)"	"32"
"0000178642"	"00005620"	"90"	"3774"	"1"	"3774"	"1"	"c.3774+1G>A"	"r.3685_3774del"	"p.Val1229_Leu1258del"	"32i"
"0000178643"	"00005620"	"10"	"467"	"0"	"467"	"0"	"c.467G>A"	"r.(?)"	"p.(Gly156Glu)"	"5"
"0000178644"	"00005620"	"90"	"3783"	"0"	"3783"	"0"	"c.3783G>C"	"r.(?)"	"p.(Glu1261Asp)"	"33"
"0000178645"	"00005620"	"90"	"3783"	"0"	"3783"	"0"	"c.3783G>C"	"r.(?)"	"p.(Glu1261Asp)"	"33"
"0000178646"	"00005620"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Arg1268*)"	"33"
"0000178647"	"00005620"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Arg1268*)"	"33"
"0000178648"	"00005620"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Arg1268*) )"	"33"
"0000178649"	"00005620"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Arg1268*)"	"33"
"0000178650"	"00005620"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Arg1268*)"	"33"
"0000178651"	"00005620"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Arg1268*)"	"33"
"0000178652"	"00005620"	"90"	"3803"	"0"	"3803"	"0"	"c.3803G>A"	"r.(?)"	"p.(Arg1268Gln)"	"33"
"0000178653"	"00005620"	"90"	"3803"	"0"	"3803"	"0"	"c.3803G>C"	"r.(?)"	"p.(Arg1268Pro)"	"33"
"0000178654"	"00005620"	"90"	"489"	"1"	"489"	"1"	"c.489+1G>A"	"r.400_489del"	"p.Val134_Lys163del"	"5i"
"0000178655"	"00005620"	"90"	"3838"	"0"	"3838"	"0"	"c.3838G>C"	"r.(?)"	"p.(Asp1280His)"	"33"
"0000178656"	"00005620"	"90"	"3887"	"0"	"3888"	"0"	"c.3887_3888insCC"	"r.(?)"	"p.(Glu1296Aspfs*12)"	"33"
"0000178657"	"00005620"	"10"	"3945"	"41"	"3945"	"41"	"c.3945+41A>G"	"r.(?)"	"p.(=)"	"33i"
"0000178659"	"00005620"	"10"	"3946"	"-125"	"3946"	"-125"	"c.3946-125dup"	"r.(=)"	"p.(=)"	"33i"
"0000178660"	"00005620"	"90"	"3986"	"0"	"3987"	"0"	"c.3986_3987dup"	"r.(?)"	"p.(fs*)"	"34"
"0000178661"	"00005620"	"90"	"3986"	"0"	"3987"	"0"	"c.3986_3987dup"	"r.(?)"	"p.(Asp1328Alafs*5)"	"34"
"0000178662"	"00005620"	"90"	"3986"	"0"	"3987"	"0"	"c.3986_3987dup"	"r.(?)"	"p.(Ile1330Profs*3)"	"34"
"0000178663"	"00005620"	"90"	"3987"	"0"	"3987"	"0"	"c.3987dup"	"r.(?)"	"p.(Ile1330HisfsTer5)"	"34"
"0000178664"	"00005620"	"90"	"3997"	"0"	"3997"	"0"	"c.3997T>C"	"r.(?)"	"p.(Cys1333Arg)"	"34"
"0000178666"	"00005620"	"90"	"512"	"0"	"512"	"0"	"c.512A>G"	"r.(?)"	"p.(Asp171Gly)"	"6"
"0000178667"	"00005620"	"90"	"3997"	"0"	"3997"	"0"	"c.3997T>C"	"r.(?)"	"p.(Cys1333Arg)"	"34"
"0000178668"	"00005620"	"90"	"4009"	"0"	"4009"	"0"	"c.4009T>C"	"r.(?)"	"p.(Ser1337Pro)"	"34"
"0000178669"	"00005620"	"90"	"4016"	"0"	"4016"	"0"	"c.4016G>A"	"r.(?)"	"p.(Gly1339Glu)"	"34"
"0000178671"	"00005620"	"10"	"0"	"0"	"0"	"0"	"c.4021-108_4021-81GT[?]"	"r.(?)"	"p.(=)"	"34i"
"0000178672"	"00005620"	"10"	"4021"	"-31"	"4021"	"-31"	"c.4021-31C>G"	"r.(?)"	"p.(=)"	"34i"
"0000178673"	"00005620"	"90"	"4106"	"0"	"4117"	"0"	"c.4106_4117del"	"r.(?)"	"p.(Leu1369_Ile1372del)"	"35"
"0000178674"	"00005620"	"90"	"4119"	"2"	"4119"	"2"	"c.4119+2T>C"	"r.[4021_4119del, 4119_4120ins4119+1_4119+42{4119+2u>c}]"	"p.[Val1341_Gln1373del, Gln1373_Gln1374insASGLWLCACPWSYM]"	"35i"
"0000178675"	"00005620"	"90"	"4120"	"-239"	"4120"	"-239"	"c.4120-239A>G"	"r.4119_4120ins4120-328_4120-240"	"p.Gln1374Serfs*17"	"35i"
"0000178676"	"00005620"	"90"	"4130"	"0"	"4130"	"0"	"c.4130G>T"	"r.(?)"	"p.(Arg1377Leu)"	"36"
"0000178677"	"00005620"	"90"	"545"	"0"	"546"	"0"	"c.545_546dup"	"r.(?)"	"p.(Gly183Argfs*25)"	"6"
"0000178678"	"00005620"	"90"	"4130"	"0"	"4130"	"0"	"c.4130G>T"	"r.(?)"	"p.(Arg1377Leu)"	"36"
"0000178679"	"00005620"	"10"	"4144"	"0"	"4144"	"0"	"c.4144G>A"	"r.(?)"	"p.(Gly1382Ser )"	"36"
"0000178680"	"00005620"	"90"	"4150"	"0"	"4150"	"0"	"c.4150G>A"	"r.(?)"	"p.(Ala1384Thr)"	"36"
"0000178681"	"00005620"	"90"	"4160"	"0"	"4160"	"0"	"c.4160T>C"	"r.(?)"	"p.(Leu1387Ser)"	"36"
"0000178682"	"00005620"	"90"	"4166"	"0"	"4166"	"0"	"c.4166del"	"r.(?)"	"p.(Asn1389Metfs*44)"	"36"
"0000178683"	"00005620"	"90"	"4190"	"0"	"4190"	"0"	"c.4190C>T"	"r.(?)"	"p.(Thr1397Met)"	"37"
"0000178684"	"00005620"	"90"	"4190"	"0"	"4190"	"0"	"c.4190C>T"	"r.(?)"	"p.(Thr1397Met)"	"37"
"0000178685"	"00005620"	"90"	"4210"	"0"	"4210"	"0"	"c.4210C>G"	"r.(?)"	"p.(Leu1404Val)"	"37"
"0000178687"	"00005620"	"10"	"4235"	"0"	"4235"	"0"	"c.4235C>A"	"r.(?)"	"p.(Thr1412Asn)"	"37"
"0000178688"	"00005620"	"10"	"0"	"0"	"0"	"0"	"c.546+40GT(n)"	"r.(?)"	"p.(=)"	"6i"
"0000178689"	"00005620"	"90"	"4250"	"0"	"4250"	"0"	"c.4250C>T"	"r.(?)"	"p.(Pro1417Leu)"	"37"
"0000178690"	"00005620"	"90"	"4250"	"0"	"4250"	"0"	"c.4250C>T"	"r.(?)"	"p.(Gln484*)"	"37"
"0000178691"	"00005620"	"90"	"4250"	"0"	"4250"	"0"	"c.4250C>T"	"r.(?)"	"p.(Pro1417Leu)"	"37"
"0000178693"	"00005620"	"10"	"4293"	"-10"	"4293"	"-10"	"c.4293-10A>G"	"r.(?)"	"p.(=)"	"37i"
"0000178694"	"00005620"	"90"	"4334"	"0"	"4334"	"0"	"c.4334C>T"	"r.(?)"	"p.(Pro1445Leu)"	"38"
"0000178695"	"00005620"	"90"	"4345"	"0"	"4345"	"0"	"c.4345A>G"	"r.(?)"	"p.(Thr1449Ala)"	"38"
"0000178697"	"00005620"	"70"	"4367"	"0"	"4367"	"0"	"c.4367C>A"	"r.(?)"	"p.(Thr1456Asn)"	"38"
"0000178698"	"00005620"	"70"	"4367"	"0"	"4367"	"0"	"c.4367C>A"	"r.(?)"	"p.(Thr1456Asn)"	"38"
"0000178699"	"00005620"	"90"	"547"	"-3"	"547"	"-3"	"c.547-3T>G"	"r.(spl?)"	"p.?"	"6i"
"0000178700"	"00005620"	"70"	"4367"	"0"	"4367"	"0"	"c.4367C>A"	"r.(?)"	"p.(Thr1456Asn)"	"38"
"0000178701"	"00005620"	"70"	"4367"	"0"	"4367"	"0"	"c.4367C>A"	"r.(?)"	"p.(Thr1456Asn)"	"38"
"0000178702"	"00005620"	"70"	"4367"	"0"	"4367"	"0"	"c.4367C>A"	"r.(?)"	"p.(Thr1456Asn)"	"38"
"0000178703"	"00005620"	"90"	"4375"	"0"	"4375"	"0"	"c.4375C>T"	"r.(?)"	"p.(Arg1459Trp)"	"38"
"0000178704"	"00005620"	"90"	"4375"	"0"	"4375"	"0"	"c.4375C>T"	"r.(?)"	"p.(Arg1459Trp)"	"38"
"0000178705"	"00005620"	"90"	"4375"	"0"	"4375"	"0"	"c.4375C>T"	"r.(?)"	"p.(Arg1459Trp)"	"38"
"0000178706"	"00005620"	"90"	"4376"	"0"	"4376"	"0"	"c.4376G>A"	"r.(?)"	"p.(Arg1459Gln)"	"38"
"0000178707"	"00005620"	"90"	"4376"	"0"	"4376"	"0"	"c.4376G>A"	"r.(?)"	"p.(Arg1459Gln)"	"38"
"0000178708"	"00005620"	"90"	"4403"	"0"	"4403"	"0"	"c.4403C>G"	"r.(?)"	"p.(Pro1468Arg)"	"38"
"0000178709"	"00005620"	"90"	"4419"	"0"	"4419"	"0"	"c.4419dup"	"r.(?)"	"p.(Gln1474Serfs*8)"	"38"
"0000178710"	"00005620"	"90"	"640"	"-7"	"640"	"-7"	"c.640-7A>G"	"r.621_622ins622-6_622-1"	"p.Lys213_Asp214insTrpGln"	"7i"
"0000178711"	"00005620"	"90"	"4422"	"1"	"4422"	"1"	"c.4422+1G>A"	"r.4293_4422del"	"p.Leu1432*"	"38i"
"0000178712"	"00005620"	"90"	"4423"	"-9"	"4423"	"-9"	"c.4423-9T>G"	"r.4422_4423ins4423-8_4423-1"	"p.Val1475Ilefs*2"	"38i"
"0000178713"	"00005620"	"90"	"4489"	"0"	"4489"	"0"	"c.4489T>C"	"r.(?)"	"p.(Tyr1497His)"	"39"
"0000178714"	"00005620"	"90"	"4489"	"0"	"4489"	"0"	"c.4489T>C"	"r.(?)"	"p.(Tyr1497His)"	"39"
"0000178715"	"00005620"	"90"	"639"	"1"	"730"	"-1"	"c.(639+1_730-1)?"	"r.640_729del"	"p.Asp214_Lys242del"	"7i_8i"
"0000178716"	"00005620"	"90"	"652"	"0"	"652"	"0"	"c.652T>A"	"r.(?)"	"p.(Tyr218Asn)"	"8"
"0000178717"	"00005620"	"90"	"689"	"0"	"689"	"0"	"c.689A>T"	"r.(?)"	"p.(Asp230Val)"	"8"
"0000178718"	"00005620"	"90"	"715"	"0"	"715"	"0"	"c.715C>T"	"r.(?)"	"p.(Arg239Cys)"	"8"
"0000178719"	"00005620"	"90"	"718"	"0"	"718"	"0"	"c.718del"	"r.(?)"	"p.(Leu240Cysfs*2)"	"8"
"0000178720"	"00005620"	"90"	"-1"	"0"	"4522"	"0"	"c.(?_-1)_(*1_?)del"	"r.0"	"p.0"	"_1_39_"
"0000178721"	"00005620"	"90"	"729"	"1"	"729"	"1"	"c.729+1G>A"	"r.640_729del"	"p.Asp214_Lys242del"	"8i"
"0000178722"	"00005620"	"90"	"729"	"686"	"1182"	"136"	"c.729+686_1182+136del"	"r.730_1104del"	"p.Arg244_Glu368del"	"8i_12i"
"0000178723"	"00005620"	"90"	"730"	"0"	"730"	"0"	"c.730C>T"	"r.(spl?)"	"p.(Arg244*)"	"9"
"0000178724"	"00005620"	"90"	"746"	"0"	"746"	"0"	"c.746A>C"	"r.(?)"	"p.(His249Pro)"	"9"
"0000178725"	"00005620"	"90"	"749"	"0"	"749"	"0"	"c.749del"	"r.(?)"	"p.(Leu250*)"	"9"
"0000178726"	"00005620"	"90"	"749"	"0"	"749"	"0"	"c.749del"	"r.(?)"	"p.(Leu250*)"	"9"
"0000178727"	"00005620"	"90"	"791"	"0"	"791"	"0"	"c.791G>A"	"r.(?)"	"p.(Gly264Glu)"	"9"
"0000178728"	"00005620"	"10"	"800"	"0"	"800"	"0"	"c.800T>G"	"r.(?)"	"p.(Ile267Ser )"	"9"
"0000178729"	"00005620"	"90"	"806"	"0"	"806"	"0"	"c.806G>A"	"r.(?)"	"p.(Gly269Glu)"	"9"
"0000178730"	"00005620"	"90"	"858"	"0"	"858"	"0"	"c.858G>C"	"r.(spl?)"	"p.(Lys286Asn?)"	"9"
"0000178731"	"00005620"	"90"	"-1"	"0"	"4522"	"0"	"c.(?_-1)_(*1_?)del"	"r.0"	"p.0"	"_1_39_"
"0000178732"	"00005620"	"90"	"858"	"0"	"858"	"0"	"c.858G>C"	"r.850_858del"	"p.Val284_Lys286del"	"9"
"0000178733"	"00005620"	"90"	"858"	"0"	"858"	"0"	"c.858G>C"	"r.850_858del"	"p.Val284_Lys286del"	"9"
"0000178734"	"00005620"	"90"	"858"	"0"	"858"	"0"	"c.858G>C"	"r.(spl?)"	"p.(Lys286Asn?)"	"9"
"0000178735"	"00005620"	"90"	"858"	"0"	"858"	"0"	"c.858G>C"	"r.(spl?)"	"p.(Lys286Asn?)"	"9"
"0000178736"	"00005620"	"90"	"858"	"0"	"858"	"0"	"c.858G>C"	"r.(spl?)"	"p.(Lys286Asn?)"	"9"
"0000178737"	"00005620"	"90"	"858"	"0"	"858"	"0"	"c.858G>C"	"r.850_858del"	"p.Val284_Lys286del"	"9"
"0000178738"	"00005620"	"90"	"866"	"0"	"866"	"0"	"c.866del"	"r.(?)"	"p.(Glu289Glyfs*16)"	"10"
"0000178739"	"00005620"	"90"	"878"	"0"	"878"	"0"	"c.878del"	"r.(?)"	"p.(Lys293ArgfsTer12)"	"10"
"0000178740"	"00005620"	"90"	"884"	"0"	"884"	"0"	"c.884del"	"r.(?)"	"p.(Pro295Hisfs*10)"	"10"
"0000178741"	"00005620"	"90"	"918"	"0"	"919"	"0"	"c.918_919dup"	"r.(?)"	"p.(Gly307Glufs*24)"	"10"
"0000178742"	"00005620"	"90"	"143"	"0"	"143"	"0"	"c.143del"	"r.(?)"	"p.(Lys48Argfs*15)"	"2"
"0000178743"	"00005620"	"90"	"920"	"0"	"920"	"0"	"c.920G>A"	"r.(?)"	"p.(Gly307Glu)"	"10"
"0000178744"	"00005620"	"70"	"929"	"0"	"929"	"0"	"c.929C>T"	"r.(?)"	"p.(Ala310Val)"	"10"
"0000178745"	"00005620"	"90"	"968"	"0"	"968"	"0"	"c.968G>A"	"r.(?)"	"p.(Gly323Glu)"	"11"
"0000178746"	"00005620"	"70"	"1010"	"0"	"1010"	"0"	"c.1010T>C"	"r.(?)"	"p.(Ile992Thr)"	"11"
"0000178747"	"00005620"	"90"	"1028"	"0"	"1028"	"0"	"c.1028A>G"	"r.(?)"	"p.(His343Arg)"	"11"
"0000178749"	"00005620"	"90"	"1028"	"0"	"1028"	"0"	"c.1028A>G"	"r.(?)"	"p.(His343Arg)"	"11"
"0000178752"	"00005620"	"10"	"1048"	"0"	"1048"	"0"	"c.1048A>G"	"r.(?)"	"p.(=)"	"11"
"0000178756"	"00005620"	"10"	"1050"	"0"	"1050"	"0"	"c.1050C>T"	"r.(?)"	"p.(Thr350Ala)"	"11"
"0000178757"	"00005620"	"10"	"1057"	"0"	"1057"	"0"	"c.1057G>T"	"r.(?)"	"p.(Ala353Ser)"	"11"
"0000178758"	"00005620"	"90"	"1081"	"0"	"1081"	"0"	"c.1081A>G"	"r.(?)"	"p.(Asn361Asp)"	"11"
"0000178759"	"00005620"	"90"	"1090"	"0"	"1090"	"0"	"c.1090G>C"	"r.(?)"	"p.(Asp364His)"	"11"
"0000178760"	"00005620"	"90"	"1105"	"-1"	"1105"	"-1"	"c.1105-1G>T"	"r.spl?"	"p.?"	"11i"
"0000178761"	"00005620"	"90"	"1141"	"0"	"1141"	"0"	"c.1141C>T"	"r.(?)"	"p.(Gln381*)"	"12"
"0000178762"	"00005620"	"90"	"1141"	"0"	"1141"	"0"	"c.1141C>T"	"r.(?)"	"p.(Gln381*)"	"12"
"0000178763"	"00005620"	"90"	"1163"	"0"	"1163"	"0"	"c.1163C>T"	"r.(?)"	"p.(Pro388Leu)"	"12"
"0000178764"	"00005620"	"90"	"146"	"0"	"146"	"0"	"c.146C>T"	"r.(?)"	"p.(Ala49Val)"	"3"
"0000178765"	"00005620"	"90"	"1182"	"1"	"1182"	"1"	"c.1182+1G>A"	"r.1105_1182del"	"p.Gly369_Glu394del"	"12i"
"0000178766"	"00005620"	"90"	"1184"	"0"	"1184"	"0"	"c.1184A>G"	"r.(?)"	"p.(Tyr395Cys)"	"13"
"0000178767"	"00005620"	"90"	"1187"	"0"	"1187"	"0"	"c.1187T>G"	"r.(?)"	"p.(Leu396Arg)"	"13"
"0000178768"	"00005620"	"90"	"1215"	"0"	"1216"	"0"	"c.1215_1216del"	"r.(?)"	"p.(Lys406ArgfsTer21)"	"13"
"0000178769"	"00005620"	"90"	"1219"	"0"	"1219"	"0"	"c.1219G>C"	"r.(?)"	"p.(Gly407Arg)"	"13"
"0000178770"	"00005620"	"90"	"1281"	"5"	"1281"	"5"	"c.1281+5G>C"	"r.1183_1281del"	"p.Tyr395_Glu427del"	"13i"
"0000178771"	"00005620"	"90"	"1281"	"5"	"1281"	"5"	"c.1281+5G>C"	"r.1183_1281del"	"p.Tyr395_Glu427del"	"13i"
"0000178772"	"00005620"	"90"	"1309"	"0"	"1309"	"0"	"c.1309G>A"	"r.(?)"	"p.(Gly437Arg)"	"14"
"0000178773"	"00005620"	"90"	"1313"	"0"	"1313"	"0"	"c.1313G>T"	"r.(?)"	"p.(Gly438Val)"	"14"
"0000178774"	"00005620"	"90"	"1330"	"0"	"1330"	"0"	"c.1330G>A"	"r.(?)"	"p.(Ala444Thr)"	"14"
"0000178775"	"00005620"	"90"	"148"	"0"	"148"	"0"	"c.148C>T"	"r.(?)"	"p.(Gln50*)"	"3"
"0000178776"	"00005620"	"90"	"1330"	"0"	"1330"	"0"	"c.1330G>C"	"r.(?)"	"p.(Ala444Pro)"	"14"
"0000178777"	"00005620"	"90"	"1366"	"0"	"1366"	"0"	"c.1366A>G"	"r.(?)"	"p.(Lys456Glu)"	"14"
"0000178778"	"00005620"	"90"	"1388"	"0"	"1388"	"0"	"c.1388T>G"	"r.(?)"	"p.(Val463Gly)"	"15"
"0000178779"	"00005620"	"90"	"1408"	"0"	"1415"	"0"	"c.1408_1415del"	"r.(?)"	"p.(Pro470Cysfs*7"	"15"
"0000178780"	"00005620"	"90"	"1408"	"0"	"1415"	"0"	"c.1408_1415del"	"r.(?)"	"p.(fs*)"	"15"
"0000178781"	"00005620"	"90"	"1430"	"0"	"1430"	"0"	"c.1430C>A"	"r.(?)"	"p.(Thr477Asn)"	"15"
"0000178782"	"00005620"	"90"	"1430"	"0"	"1430"	"0"	"c.1430C>A"	"r.(?)"	"p.(Thr477Asn)"	"15"
"0000178783"	"00005620"	"90"	"1431"	"0"	"1431"	"0"	"c.1431dup"	"r.(?)"	"p.(Asn478Glnfs*2)"	"15"
"0000178784"	"00005620"	"90"	"1450"	"0"	"1450"	"0"	"c.1450C>T"	"r.(?)"	"p.(Gln484*)"	"15"
"0000178785"	"00005620"	"90"	"1510"	"0"	"1510"	"0"	"c.1510G>C"	"r.(?)"	"p.(Ala504Pro)"	"15"
"0000245621"	"00025930"	"10"	"4275"	"-10"	"4275"	"-10"	"c.4275-10A>G"	"r.(=)"	"p.(=)"	""
"0000245621"	"00005620"	"10"	"4293"	"-10"	"4293"	"-10"	"c.4293-10A>G"	"r.(=)"	"p.(=)"	""
"0000245629"	"00025930"	"10"	"1030"	"0"	"1030"	"0"	"c.1030A>G"	"r.(?)"	"p.(Thr344Ala)"	""
"0000245629"	"00005620"	"10"	"1048"	"0"	"1048"	"0"	"c.1048A>G"	"r.(?)"	"p.(Thr350Ala)"	""
"0000245736"	"00025930"	"10"	"2830"	"-18"	"2830"	"-18"	"c.2830-18A>G"	"r.(=)"	"p.(=)"	""
"0000245736"	"00005620"	"10"	"2848"	"-18"	"2848"	"-18"	"c.2848-18A>G"	"r.(=)"	"p.(=)"	""
"0000245933"	"00025930"	"10"	"3141"	"15"	"3141"	"15"	"c.3141+15del"	"r.(=)"	"p.(=)"	""
"0000245933"	"00005620"	"10"	"3159"	"15"	"3159"	"15"	"c.3159+15del"	"r.(=)"	"p.(=)"	""
"0000247919"	"00025930"	"10"	"1030"	"0"	"1030"	"0"	"c.1030A>G"	"r.(?)"	"p.(Thr344Ala)"	""
"0000247919"	"00005620"	"10"	"1048"	"0"	"1048"	"0"	"c.1048A>G"	"r.(?)"	"p.(Thr350Ala)"	""
"0000250677"	"00025930"	"10"	"4275"	"-10"	"4275"	"-10"	"c.4275-10A>G"	"r.(=)"	"p.(=)"	""
"0000250677"	"00005620"	"10"	"4293"	"-10"	"4293"	"-10"	"c.4293-10A>G"	"r.(=)"	"p.(=)"	""
"0000250977"	"00025930"	"10"	"2830"	"-18"	"2830"	"-18"	"c.2830-18A>G"	"r.(=)"	"p.(=)"	""
"0000250977"	"00005620"	"10"	"2848"	"-18"	"2848"	"-18"	"c.2848-18A>G"	"r.(=)"	"p.(=)"	""
"0000252067"	"00025930"	"30"	"1164"	"43"	"1164"	"43"	"c.1164+43del"	"r.(=)"	"p.(=)"	""
"0000252067"	"00005620"	"30"	"1182"	"43"	"1182"	"43"	"c.1182+43del"	"r.(=)"	"p.(=)"	""
"0000253029"	"00025930"	"10"	"4275"	"-10"	"4275"	"-10"	"c.4275-10A>G"	"r.(=)"	"p.(=)"	""
"0000253029"	"00005620"	"10"	"4293"	"-10"	"4293"	"-10"	"c.4293-10A>G"	"r.(=)"	"p.(=)"	""
"0000253180"	"00025930"	"10"	"1030"	"0"	"1030"	"0"	"c.1030A>G"	"r.(?)"	"p.(Thr344Ala)"	""
"0000253180"	"00005620"	"10"	"1048"	"0"	"1048"	"0"	"c.1048A>G"	"r.(?)"	"p.(Thr350Ala)"	""
"0000264976"	"00025930"	"10"	"-78986"	"0"	"-78986"	"0"	"c.-78986G>A"	"r.(?)"	"p.(=)"	""
"0000264976"	"00005620"	"10"	"-16"	"0"	"-16"	"0"	"c.-16G>A"	"r.(?)"	"p.(=)"	""
"0000264977"	"00025930"	"10"	"-29"	"0"	"-29"	"0"	"c.-29T>G"	"r.(?)"	"p.(=)"	""
"0000264977"	"00005620"	"10"	"4"	"-14"	"4"	"-14"	"c.4-14T>G"	"r.(=)"	"p.(=)"	""
"0000264978"	"00025930"	"10"	"1032"	"0"	"1032"	"0"	"c.1032C>T"	"r.(?)"	"p.(Thr344=)"	""
"0000264978"	"00005620"	"10"	"1050"	"0"	"1050"	"0"	"c.1050C>T"	"r.(?)"	"p.(Thr350=)"	""
"0000264980"	"00025930"	"50"	"154"	"0"	"154"	"0"	"c.154G>A"	"r.(?)"	"p.(Asp52Asn)"	""
"0000264980"	"00005620"	"50"	"172"	"0"	"172"	"0"	"c.172G>A"	"r.(?)"	"p.(Asp58Asn)"	""
"0000264981"	"00025930"	"10"	"2193"	"-15"	"2193"	"-15"	"c.2193-15G>T"	"r.(=)"	"p.(=)"	""
"0000264981"	"00005620"	"10"	"2211"	"-15"	"2211"	"-15"	"c.2211-15G>T"	"r.(=)"	"p.(=)"	""
"0000264982"	"00025930"	"10"	"2391"	"18"	"2391"	"18"	"c.2391+18T>G"	"r.(=)"	"p.(=)"	""
"0000264982"	"00005620"	"10"	"2409"	"18"	"2409"	"18"	"c.2409+18T>G"	"r.(=)"	"p.(=)"	""
"0000264983"	"00025930"	"10"	"2679"	"0"	"2679"	"0"	"c.2679C>G"	"r.(?)"	"p.(Gly893=)"	""
"0000264983"	"00005620"	"10"	"2697"	"0"	"2697"	"0"	"c.2697C>G"	"r.(?)"	"p.(Gly899=)"	""
"0000264984"	"00025930"	"10"	"-78956"	"0"	"-78956"	"0"	"c.-78956G>A"	"r.(?)"	"p.(=)"	""
"0000264984"	"00005620"	"10"	"3"	"12"	"3"	"12"	"c.3+12G>A"	"r.(=)"	"p.(=)"	""
"0000264985"	"00025930"	"10"	"3559"	"-7"	"3559"	"-7"	"c.3559-7del"	"r.(=)"	"p.(=)"	""
"0000264985"	"00005620"	"10"	"3577"	"-7"	"3577"	"-7"	"c.3577-7del"	"r.(=)"	"p.(=)"	""
"0000264986"	"00025930"	"10"	"3559"	"-8"	"3559"	"-7"	"c.3559-8_3559-7del"	"r.(=)"	"p.(=)"	""
"0000264986"	"00005620"	"10"	"3577"	"-8"	"3577"	"-7"	"c.3577-8_3577-7del"	"r.(=)"	"p.(=)"	""
"0000264987"	"00025930"	"30"	"3928"	"-8"	"3928"	"-8"	"c.3928-8del"	"r.(=)"	"p.(=)"	""
"0000264987"	"00005620"	"30"	"3946"	"-8"	"3946"	"-8"	"c.3946-8del"	"r.(=)"	"p.(=)"	""
"0000264988"	"00025930"	"30"	"3928"	"-9"	"3928"	"-8"	"c.3928-9_3928-8del"	"r.(=)"	"p.(=)"	""
"0000264988"	"00005620"	"30"	"3946"	"-9"	"3946"	"-8"	"c.3946-9_3946-8del"	"r.(=)"	"p.(=)"	""
"0000264991"	"00025930"	"10"	"4126"	"0"	"4126"	"0"	"c.4126G>A"	"r.(?)"	"p.(Gly1376Ser)"	""
"0000264991"	"00005620"	"10"	"4144"	"0"	"4144"	"0"	"c.4144G>A"	"r.(?)"	"p.(Gly1382Ser)"	""
"0000264992"	"00025930"	"10"	"4217"	"0"	"4217"	"0"	"c.4217C>A"	"r.(?)"	"p.(Thr1406Asn)"	""
"0000264992"	"00005620"	"10"	"4235"	"0"	"4235"	"0"	"c.4235C>A"	"r.(?)"	"p.(Thr1412Asn)"	""
"0000264993"	"00025930"	"10"	"712"	"-16"	"712"	"-16"	"c.712-16T>C"	"r.(=)"	"p.(=)"	""
"0000264993"	"00005620"	"10"	"730"	"-16"	"730"	"-16"	"c.730-16T>C"	"r.(=)"	"p.(=)"	""
"0000267108"	"00025930"	"10"	"1032"	"0"	"1032"	"0"	"c.1032C>T"	"r.(?)"	"p.(Thr344=)"	""
"0000267108"	"00005620"	"10"	"1050"	"0"	"1050"	"0"	"c.1050C>T"	"r.(?)"	"p.(Thr350=)"	""
"0000267110"	"00025930"	"10"	"2679"	"0"	"2679"	"0"	"c.2679C>G"	"r.(?)"	"p.(Gly893=)"	""
"0000267110"	"00005620"	"10"	"2697"	"0"	"2697"	"0"	"c.2697C>G"	"r.(?)"	"p.(Gly899=)"	""
"0000267111"	"00025930"	"50"	"295"	"0"	"295"	"0"	"c.295C>A"	"r.(?)"	"p.(Pro99Thr)"	""
"0000267111"	"00005620"	"50"	"313"	"0"	"313"	"0"	"c.313C>A"	"r.(?)"	"p.(Pro105Thr)"	""
"0000267112"	"00025930"	"10"	"3559"	"-7"	"3559"	"-7"	"c.3559-7del"	"r.(=)"	"p.(=)"	""
"0000267112"	"00005620"	"10"	"3577"	"-7"	"3577"	"-7"	"c.3577-7del"	"r.(=)"	"p.(=)"	""
"0000270567"	"00025930"	"10"	"3559"	"-7"	"3559"	"-7"	"c.3559-7del"	"r.(=)"	"p.(=)"	""
"0000270567"	"00005620"	"10"	"3577"	"-7"	"3577"	"-7"	"c.3577-7del"	"r.(=)"	"p.(=)"	""
"0000270568"	"00025930"	"30"	"3928"	"-8"	"3928"	"-8"	"c.3928-8del"	"r.(=)"	"p.(=)"	""
"0000270568"	"00005620"	"30"	"3946"	"-8"	"3946"	"-8"	"c.3946-8del"	"r.(=)"	"p.(=)"	""
"0000270569"	"00025930"	"30"	"3928"	"-9"	"3928"	"-8"	"c.3928-9_3928-8del"	"r.(=)"	"p.(=)"	""
"0000270569"	"00005620"	"30"	"3946"	"-9"	"3946"	"-8"	"c.3946-9_3946-8del"	"r.(=)"	"p.(=)"	""
"0000274367"	"00025930"	"10"	"1032"	"0"	"1032"	"0"	"c.1032C>T"	"r.(?)"	"p.(Thr344=)"	""
"0000274367"	"00005620"	"10"	"1050"	"0"	"1050"	"0"	"c.1050C>T"	"r.(?)"	"p.(Thr350=)"	""
"0000274369"	"00025930"	"10"	"2193"	"-15"	"2193"	"-15"	"c.2193-15G>T"	"r.(=)"	"p.(=)"	""
"0000274369"	"00005620"	"10"	"2211"	"-15"	"2211"	"-15"	"c.2211-15G>T"	"r.(=)"	"p.(=)"	""
"0000274370"	"00025930"	"10"	"2679"	"0"	"2679"	"0"	"c.2679C>G"	"r.(?)"	"p.(Gly893=)"	""
"0000274370"	"00005620"	"10"	"2697"	"0"	"2697"	"0"	"c.2697C>G"	"r.(?)"	"p.(Gly899=)"	""
"0000274371"	"00025930"	"10"	"-78956"	"0"	"-78956"	"0"	"c.-78956G>A"	"r.(?)"	"p.(=)"	""
"0000274371"	"00005620"	"10"	"3"	"12"	"3"	"12"	"c.3+12G>A"	"r.(=)"	"p.(=)"	""
"0000274372"	"00025930"	"10"	"4217"	"0"	"4217"	"0"	"c.4217C>A"	"r.(?)"	"p.(Thr1406Asn)"	""
"0000274372"	"00005620"	"10"	"4235"	"0"	"4235"	"0"	"c.4235C>A"	"r.(?)"	"p.(Thr1412Asn)"	""
"0000274373"	"00025930"	"10"	"449"	"0"	"449"	"0"	"c.449G>A"	"r.(?)"	"p.(Gly150Glu)"	""
"0000274373"	"00005620"	"10"	"467"	"0"	"467"	"0"	"c.467G>A"	"r.(?)"	"p.(Gly156Glu)"	""
"0000337472"	"00025930"	"10"	"-78956"	"0"	"-78956"	"0"	"c.-78956G>A"	"r.(?)"	"p.(=)"	""
"0000337472"	"00005620"	"10"	"3"	"12"	"3"	"12"	"c.3+12G>A"	"r.(=)"	"p.(=)"	""
"0000341009"	"00025930"	"10"	"1032"	"0"	"1032"	"0"	"c.1032C>T"	"r.(?)"	"p.(Thr344=)"	""
"0000341009"	"00005620"	"10"	"1050"	"0"	"1050"	"0"	"c.1050C>T"	"r.(?)"	"p.(Thr350=)"	""
"0000347904"	"00025930"	"70"	"2396"	"0"	"2396"	"0"	"c.2396T>C"	"r.(?)"	"p.(Met799Thr)"	""
"0000347904"	"00005620"	"70"	"2414"	"0"	"2414"	"0"	"c.2414T>C"	"r.(?)"	"p.(Met805Thr)"	""
"0000349464"	"00025930"	"10"	"1030"	"0"	"1030"	"0"	"c.1030A>G"	"r.(?)"	"p.(Thr344Ala)"	""
"0000349464"	"00005620"	"10"	"1048"	"0"	"1048"	"0"	"c.1048A>G"	"r.(?)"	"p.(Thr350Ala)"	""
"0000351686"	"00005620"	"70"	"1430"	"0"	"1430"	"0"	"c.1430C>T"	"r.(?)"	"p.(Thr477Ile)"	""
"0000458834"	"00025930"	"50"	"3687"	"0"	"3687"	"0"	"c.3687G>T"	"r.(?)"	"p.(Lys1229Asn)"	""
"0000458834"	"00005620"	"50"	"3705"	"0"	"3705"	"0"	"c.3705G>T"	"r.(?)"	"p.(Lys1235Asn)"	""
"0000514082"	"00025930"	"10"	"-4"	"0"	"-3"	"0"	"c.-4_-3insTTC"	"r.(?)"	"p.(=)"	""
"0000514082"	"00005620"	"10"	"15"	"0"	"16"	"0"	"c.15_16insTTC"	"r.(?)"	"p.(Ile5_Lys6insPhe)"	""
"0000514083"	"00025930"	"10"	"-4"	"0"	"-3"	"0"	"c.-4_-3insTTC"	"r.(?)"	"p.(=)"	""
"0000514083"	"00005620"	"10"	"15"	"0"	"16"	"0"	"c.15_16insTTC"	"r.(?)"	"p.(Ile5_Lys6insPhe)"	""
"0000514084"	"00025930"	"10"	"-4"	"0"	"-3"	"0"	"c.-4_-3insTTC"	"r.(?)"	"p.(=)"	""
"0000514084"	"00005620"	"10"	"15"	"0"	"16"	"0"	"c.15_16insTTC"	"r.(?)"	"p.(Ile5_Lys6insPhe)"	""
"0000514085"	"00025930"	"10"	"-4"	"0"	"-3"	"0"	"c.-4_-3insTTC"	"r.(?)"	"p.(=)"	""
"0000514085"	"00005620"	"10"	"15"	"0"	"16"	"0"	"c.15_16insTTC"	"r.(?)"	"p.(Ile5_Lys6insPhe)"	""
"0000514086"	"00025930"	"70"	"256"	"0"	"256"	"0"	"c.256G>A"	"r.(?)"	"p.(Asp86Asn)"	""
"0000514086"	"00005620"	"70"	"274"	"0"	"274"	"0"	"c.274G>A"	"r.(?)"	"p.(Asp92Asn)"	""
"0000514088"	"00025930"	"10"	"486"	"0"	"486"	"0"	"c.486T>C"	"r.(?)"	"p.(Tyr162=)"	""
"0000514088"	"00005620"	"10"	"504"	"0"	"504"	"0"	"c.504T>C"	"r.(?)"	"p.(Tyr168=)"	""
"0000514089"	"00025930"	"30"	"486"	"0"	"486"	"0"	"c.486T>C"	"r.(?)"	"p.(Tyr162=)"	""
"0000514089"	"00005620"	"30"	"504"	"0"	"504"	"0"	"c.504T>C"	"r.(?)"	"p.(Tyr168=)"	""
"0000514090"	"00025930"	"30"	"529"	"-4"	"529"	"-4"	"c.529-4A>T"	"r.spl?"	"p.?"	""
"0000514090"	"00005620"	"30"	"547"	"-4"	"547"	"-4"	"c.547-4A>T"	"r.spl?"	"p.?"	""
"0000514091"	"00025930"	"10"	"1030"	"0"	"1030"	"0"	"c.1030A>T"	"r.(?)"	"p.(Thr344Ser)"	""
"0000514091"	"00005620"	"10"	"1048"	"0"	"1048"	"0"	"c.1048A>T"	"r.(?)"	"p.(Thr350Ser)"	""
"0000514093"	"00025930"	"30"	"1116"	"0"	"1116"	"0"	"c.1116C>T"	"r.(?)"	"p.(Phe372=)"	""
"0000514093"	"00005620"	"30"	"1134"	"0"	"1134"	"0"	"c.1134C>T"	"r.(?)"	"p.(Phe378=)"	""
"0000514094"	"00025930"	"10"	"1359"	"7"	"1359"	"7"	"c.1359+7G>A"	"r.(=)"	"p.(=)"	""
"0000514094"	"00005620"	"10"	"1377"	"7"	"1377"	"7"	"c.1377+7G>A"	"r.(=)"	"p.(=)"	""
"0000514095"	"00025930"	"50"	"2002"	"0"	"2002"	"0"	"c.2002C>G"	"r.(?)"	"p.(Pro668Ala)"	""
"0000514095"	"00005620"	"50"	"2020"	"0"	"2020"	"0"	"c.2020C>G"	"r.(?)"	"p.(Pro674Ala)"	""
"0000514096"	"00025930"	"30"	"2192"	"6"	"2192"	"6"	"c.2192+6A>T"	"r.(=)"	"p.(=)"	""
"0000514096"	"00005620"	"30"	"2210"	"6"	"2210"	"6"	"c.2210+6A>T"	"r.(=)"	"p.(=)"	""
"0000514097"	"00025930"	"10"	"2193"	"-15"	"2193"	"-15"	"c.2193-15G>T"	"r.(=)"	"p.(=)"	""
"0000514097"	"00005620"	"10"	"2211"	"-15"	"2211"	"-15"	"c.2211-15G>T"	"r.(=)"	"p.(=)"	""
"0000514098"	"00025930"	"10"	"2265"	"0"	"2265"	"0"	"c.2265C>A"	"r.(?)"	"p.(Ser755=)"	""
"0000514098"	"00005620"	"10"	"2283"	"0"	"2283"	"0"	"c.2283C>A"	"r.(?)"	"p.(Ser761=)"	""
"0000514099"	"00025930"	"10"	"2448"	"0"	"2448"	"0"	"c.2448C>T"	"r.(?)"	"p.(Cys816=)"	""
"0000514099"	"00005620"	"10"	"2466"	"0"	"2466"	"0"	"c.2466C>T"	"r.(?)"	"p.(Cys822=)"	""
"0000514100"	"00025930"	"10"	"2448"	"0"	"2448"	"0"	"c.2448C>T"	"r.(?)"	"p.(Cys816=)"	""
"0000514100"	"00005620"	"10"	"2466"	"0"	"2466"	"0"	"c.2466C>T"	"r.(?)"	"p.(Cys822=)"	""
"0000514101"	"00025930"	"10"	"2448"	"0"	"2448"	"0"	"c.2448C>T"	"r.(?)"	"p.(Cys816=)"	""
"0000514101"	"00005620"	"10"	"2466"	"0"	"2466"	"0"	"c.2466C>T"	"r.(?)"	"p.(Cys822=)"	""
"0000514103"	"00025930"	"10"	"2679"	"0"	"2679"	"0"	"c.2679C>G"	"r.(?)"	"p.(Gly893=)"	""
"0000514103"	"00005620"	"10"	"2697"	"0"	"2697"	"0"	"c.2697C>G"	"r.(?)"	"p.(Gly899=)"	""
"0000514105"	"00025930"	"10"	"3355"	"0"	"3355"	"0"	"c.3355G>A"	"r.(?)"	"p.(Ala1119Thr)"	""
"0000514105"	"00005620"	"10"	"3373"	"0"	"3373"	"0"	"c.3373G>A"	"r.(?)"	"p.(Ala1125Thr)"	""
"0000514106"	"00025930"	"30"	"3481"	"-8"	"3481"	"-8"	"c.3481-8C>T"	"r.(=)"	"p.(=)"	""
"0000514106"	"00005620"	"30"	"3499"	"-8"	"3499"	"-8"	"c.3499-8C>T"	"r.(=)"	"p.(=)"	""
"0000514107"	"00025930"	"30"	"3559"	"-6"	"3559"	"0"	"c.3559-6_3559del"	"r.spl?"	"p.?"	""
"0000514107"	"00005620"	"30"	"3577"	"-6"	"3577"	"0"	"c.3577-6_3577del"	"r.spl?"	"p.?"	""
"0000514108"	"00025930"	"30"	"3562"	"0"	"3562"	"0"	"c.3562A>T"	"r.(?)"	"p.(Ile1188Phe)"	""
"0000514108"	"00005620"	"30"	"3580"	"0"	"3580"	"0"	"c.3580A>T"	"r.(?)"	"p.(Ile1194Phe)"	""
"0000514109"	"00025930"	"90"	"3784"	"0"	"3784"	"0"	"c.3784C>T"	"r.(?)"	"p.(Arg1262Ter)"	""
"0000514109"	"00005620"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Arg1268Ter)"	""
"0000514110"	"00025930"	"30"	"3928"	"-17"	"3928"	"-17"	"c.3928-17T>G"	"r.(=)"	"p.(=)"	""
"0000514110"	"00005620"	"30"	"3946"	"-17"	"3946"	"-17"	"c.3946-17T>G"	"r.(=)"	"p.(=)"	""
"0000514111"	"00025930"	"10"	"3928"	"-8"	"3928"	"-8"	"c.3928-8dup"	"r.(=)"	"p.(=)"	""
"0000514111"	"00005620"	"10"	"3946"	"-8"	"3946"	"-8"	"c.3946-8dup"	"r.(=)"	"p.(=)"	""
"0000514112"	"00025930"	"30"	"4003"	"-3"	"4003"	"-3"	"c.4003-3C>T"	"r.spl?"	"p.?"	""
"0000514112"	"00005620"	"30"	"4021"	"-3"	"4021"	"-3"	"c.4021-3C>T"	"r.spl?"	"p.?"	""
"0000514113"	"00025930"	"50"	"4052"	"0"	"4052"	"0"	"c.4052T>G"	"r.(?)"	"p.(Leu1351Arg)"	""
"0000514113"	"00005620"	"50"	"4070"	"0"	"4070"	"0"	"c.4070T>G"	"r.(?)"	"p.(Leu1357Arg)"	""
"0000514115"	"00025930"	"10"	"4197"	"0"	"4197"	"0"	"c.4197C>T"	"r.(?)"	"p.(Asn1399=)"	""
"0000514115"	"00005620"	"10"	"4215"	"0"	"4215"	"0"	"c.4215C>T"	"r.(?)"	"p.(Asn1405=)"	""
"0000514116"	"00025930"	"10"	"4404"	"4"	"4404"	"4"	"c.4404+4T>A"	"r.spl?"	"p.?"	""
"0000514116"	"00005620"	"10"	"4422"	"4"	"4422"	"4"	"c.4422+4T>A"	"r.spl?"	"p.?"	""
"0000578162"	"00005620"	"90"	"2179"	"0"	"2179"	"0"	"c.2179C>T"	"r.(?)"	"p.(Arg727*)"	""
"0000578163"	"00005620"	"70"	"4119"	"2"	"4119"	"2"	"c.4119+2T>C"	"r.spl?"	"p.?"	"35i"
"0000578164"	"00005620"	"90"	"1281"	"5"	"1281"	"5"	"c.1281+5G>C"	"r.spl"	"p.?"	"13i"
"0000578165"	"00005620"	"90"	"2135"	"0"	"2169"	"0"	"c.2135_2169dup"	"r.(?)"	"p.(Arg724Profs*10)"	""
"0000578173"	"00005620"	"50"	"2546"	"0"	"2546"	"0"	"c.2546T>C"	"r.(?)"	"p.(Leu849Ser)"	""
"0000578174"	"00005620"	"90"	"2641"	"0"	"2641"	"0"	"c.2641A>G"	"r.(?)"	"p.(Lys881Glu)"	""
"0000578175"	"00005620"	"70"	"3576"	"1"	"3576"	"1"	"c.3576+1G>C"	"r.spl"	"p.?"	"30i"
"0000607413"	"00025930"	"30"	"2352"	"0"	"2352"	"0"	"c.2352A>G"	"r.(?)"	"p.(Thr784=)"	""
"0000607413"	"00005620"	"30"	"2370"	"0"	"2370"	"0"	"c.2370A>G"	"r.(?)"	"p.(Thr790=)"	""
"0000629268"	"00025930"	"90"	"1837"	"-8"	"1837"	"-8"	"c.1837-8A>G"	"r.(=)"	"p.(=)"	""
"0000629268"	"00005620"	"90"	"1855"	"-8"	"1855"	"-8"	"c.1855-8A>G"	"r.spl?"	"p.(=)"	""
"0000629293"	"00025930"	"90"	"1289"	"0"	"1289"	"0"	"c.1289C>G"	"r.(?)"	"p.(Ser430*)"	""
"0000629293"	"00005620"	"90"	"1307"	"0"	"1307"	"0"	"c.1307C>G"	"r.(?)"	"p.(Ser436*)"	""
"0000629336"	"00025930"	"90"	"3691"	"0"	"3691"	"0"	"c.3691G>C"	"r.(?)"	"p.(Ala1231Pro)"	""
"0000629336"	"00005620"	"90"	"3709"	"0"	"3709"	"0"	"c.3709G>C"	"r.(?)"	"p.(Ala1237Pro)"	""
"0000629344"	"00025930"	"90"	"3972"	"0"	"3972"	"0"	"c.3972del"	"r.(?)"	"p.(Leu1325*)"	""
"0000629344"	"00005620"	"90"	"3990"	"0"	"3990"	"0"	"c.3990del"	"r.(?)"	"p.(Leu1331*)"	""
"0000650416"	"00005620"	"10"	"-16"	"0"	"-16"	"0"	"c.-16G>A"	"r.(=)"	"p.(=)"	""
"0000650417"	"00025930"	"90"	"487"	"0"	"487"	"0"	"c.487G>A"	"r.(?)"	"p.(Gly163Arg)"	""
"0000650417"	"00005620"	"90"	"505"	"0"	"505"	"0"	"c.505G>A"	"r.(?)"	"p.(Gly169Arg)"	""
"0000650418"	"00025930"	"90"	"1913"	"0"	"1913"	"0"	"c.1913G>C"	"r.(?)"	"p.(Arg638Pro)"	""
"0000650418"	"00005620"	"90"	"1931"	"0"	"1931"	"0"	"c.1931G>C"	"r.(?)"	"p.(Arg644Pro)"	""
"0000650419"	"00025930"	"30"	"2448"	"0"	"2448"	"0"	"c.2448C>T"	"r.(=)"	"p.(=)"	""
"0000650419"	"00005620"	"30"	"2466"	"0"	"2466"	"0"	"c.2466C>T"	"r.(=)"	"p.(=)"	""
"0000654504"	"00025930"	"30"	"334"	"0"	"334"	"0"	"c.334C>T"	"r.(?)"	"p.(Leu112=)"	""
"0000654504"	"00005620"	"30"	"352"	"0"	"352"	"0"	"c.352C>T"	"r.(?)"	"p.(Leu118=)"	""
"0000654505"	"00025930"	"30"	"2729"	"0"	"2729"	"0"	"c.2729T>C"	"r.(?)"	"p.(Ile910Thr)"	""
"0000654505"	"00005620"	"30"	"2747"	"0"	"2747"	"0"	"c.2747T>C"	"r.(?)"	"p.(Ile916Thr)"	""
"0000654506"	"00025930"	"50"	"3010"	"0"	"3010"	"0"	"c.3010C>T"	"r.(?)"	"p.(Arg1004Cys)"	""
"0000654506"	"00005620"	"50"	"3028"	"0"	"3028"	"0"	"c.3028C>T"	"r.(?)"	"p.(Arg1010Cys)"	""
"0000654507"	"00005620"	"30"	"3577"	"-5"	"3577"	"-5"	"c.3577-5del"	"r.spl?"	"p.?"	""
"0000673573"	"00005620"	"70"	"2956"	"0"	"2956"	"0"	"c.2956G>A"	"r.(?)"	"p.(Gly986Ser)"	""
"0000673574"	"00005620"	"90"	"2180"	"0"	"2180"	"0"	"c.2180G>A"	"r.(?)"	"p.(Arg727Gln)"	""
"0000673956"	"00005620"	"90"	"3784"	"0"	"3784"	"0"	"c.3784C>T"	"r.(?)"	"p.Arg2098*"	""
"0000673957"	"00005620"	"70"	"3734"	"0"	"3734"	"0"	"c.3734T>A"	"r.(?)"	"P.Leu1245His"	""
"0000676456"	"00025930"	"30"	"2421"	"0"	"2421"	"0"	"c.2421G>A"	"r.(?)"	"p.(Glu807=)"	""
"0000676456"	"00005620"	"30"	"2439"	"0"	"2439"	"0"	"c.2439G>A"	"r.(?)"	"p.(Glu813=)"	""
"0000676457"	"00025930"	"90"	"4274"	"2"	"4274"	"2"	"c.4274+2T>C"	"r.spl?"	"p.?"	""
"0000676457"	"00005620"	"90"	"4292"	"2"	"4292"	"2"	"c.4292+2T>C"	"r.spl?"	"p.?"	""
"0000688612"	"00025930"	"50"	"3683"	"0"	"3683"	"0"	"c.3683G>A"	"r.(?)"	"p.(Arg1228Gln)"	""
"0000688612"	"00005620"	"50"	"3701"	"0"	"3701"	"0"	"c.3701G>A"	"r.(?)"	"p.(Arg1234Gln)"	""
"0000688613"	"00025930"	"30"	"4173"	"0"	"4173"	"0"	"c.4173G>A"	"r.(?)"	"p.(Thr1391=)"	""
"0000688613"	"00005620"	"30"	"4191"	"0"	"4191"	"0"	"c.4191G>A"	"r.(?)"	"p.(Thr1397=)"	""
"0000718409"	"00025930"	"30"	"948"	"-6"	"948"	"-6"	"c.948-6C>T"	"r.(=)"	"p.(=)"	""
"0000718409"	"00005620"	"30"	"966"	"-6"	"966"	"-6"	"c.966-6C>T"	"r.(=)"	"p.(=)"	""
"0000718410"	"00025930"	"50"	"1918"	"0"	"1918"	"0"	"c.1918G>T"	"r.(?)"	"p.(Ala640Ser)"	""
"0000718410"	"00005620"	"50"	"1936"	"0"	"1936"	"0"	"c.1936G>T"	"r.(?)"	"p.(Ala646Ser)"	""
"0000718411"	"00025930"	"30"	"3558"	"7"	"3558"	"7"	"c.3558+7G>A"	"r.(=)"	"p.(=)"	""
"0000718411"	"00005620"	"30"	"3576"	"7"	"3576"	"7"	"c.3576+7G>A"	"r.(=)"	"p.(=)"	""
"0000718412"	"00025930"	"50"	"3643"	"0"	"3643"	"0"	"c.3643A>G"	"r.(?)"	"p.(Ile1215Val)"	""
"0000718412"	"00005620"	"50"	"3661"	"0"	"3661"	"0"	"c.3661A>G"	"r.(?)"	"p.(Ile1221Val)"	""
"0000800294"	"00025930"	"30"	"783"	"0"	"783"	"0"	"c.783C>T"	"r.(?)"	"p.(Ile261=)"	""
"0000800294"	"00005620"	"30"	"801"	"0"	"801"	"0"	"c.801C>T"	"r.(?)"	"p.(Ile267=)"	""
"0000800295"	"00025930"	"30"	"3271"	"0"	"3271"	"0"	"c.3271A>G"	"r.(?)"	"p.(Ile1091Val)"	""
"0000800295"	"00005620"	"30"	"3289"	"0"	"3289"	"0"	"c.3289A>G"	"r.(?)"	"p.(Ile1097Val)"	""
"0000800296"	"00025930"	"50"	"4252"	"0"	"4252"	"0"	"c.4252C>T"	"r.(?)"	"p.(Pro1418Ser)"	""
"0000800296"	"00005620"	"50"	"4270"	"0"	"4270"	"0"	"c.4270C>T"	"r.(?)"	"p.(Pro1424Ser)"	""
"0000849668"	"00025930"	"50"	"713"	"0"	"713"	"0"	"c.713G>A"	"r.(?)"	"p.(Arg238Gln)"	""
"0000849668"	"00005620"	"50"	"731"	"0"	"731"	"0"	"c.731G>A"	"r.(?)"	"p.(Arg244Gln)"	""
"0000858253"	"00025930"	"30"	"1039"	"0"	"1039"	"0"	"c.1039G>T"	"r.(?)"	"p.(Ala347Ser)"	""
"0000858253"	"00005620"	"30"	"1057"	"0"	"1057"	"0"	"c.1057G>T"	"r.(?)"	"p.(Ala353Ser)"	""
"0000858254"	"00025930"	"30"	"1100"	"0"	"1100"	"0"	"c.1100A>C"	"r.(?)"	"p.(Glu367Ala)"	""
"0000858254"	"00005620"	"30"	"1118"	"0"	"1118"	"0"	"c.1118A>C"	"r.(?)"	"p.(Glu373Ala)"	""
"0000858255"	"00025930"	"50"	"1592"	"0"	"1592"	"0"	"c.1592T>G"	"r.(?)"	"p.(Val531Gly)"	""
"0000858255"	"00005620"	"50"	"1610"	"0"	"1610"	"0"	"c.1610T>G"	"r.(?)"	"p.(Val537Gly)"	""
"0000858256"	"00025930"	"70"	"1837"	"-8"	"1837"	"-8"	"c.1837-8A>G"	"r.(=)"	"p.(=)"	""
"0000858256"	"00005620"	"70"	"1855"	"-8"	"1855"	"-8"	"c.1855-8A>G"	"r.(=)"	"p.(=)"	""
"0000858257"	"00025930"	"10"	"2830"	"-18"	"2830"	"-18"	"c.2830-18A>G"	"r.(=)"	"p.(=)"	""
"0000858257"	"00005620"	"10"	"2848"	"-18"	"2848"	"-18"	"c.2848-18A>G"	"r.(=)"	"p.(=)"	""
"0000858258"	"00025930"	"30"	"3481"	"-8"	"3481"	"-8"	"c.3481-8C>T"	"r.(=)"	"p.(=)"	""
"0000858258"	"00005620"	"30"	"3499"	"-8"	"3499"	"-8"	"c.3499-8C>T"	"r.(=)"	"p.(=)"	""
"0000858259"	"00025930"	"10"	"4217"	"0"	"4217"	"0"	"c.4217C>A"	"r.(?)"	"p.(Thr1406Asn)"	""
"0000858259"	"00005620"	"10"	"4235"	"0"	"4235"	"0"	"c.4235C>A"	"r.(?)"	"p.(Thr1412Asn)"	""
"0000858260"	"00025930"	"50"	"4485"	"0"	"4485"	"0"	"c.4485del"	"r.(?)"	"p.(Ser1495Argfs*25)"	""
"0000858260"	"00005620"	"50"	"4503"	"0"	"4503"	"0"	"c.4503del"	"r.(?)"	"p.(Ser1501Argfs*25)"	""
"0000884703"	"00025930"	"90"	"1263"	"5"	"1263"	"5"	"c.1263+5G>C"	"r.spl?"	"p.?"	""
"0000884703"	"00005620"	"90"	"1281"	"5"	"1281"	"5"	"c.1281+5G>C"	"r.spl?"	"p.?"	""
"0000884704"	"00025930"	"30"	"3029"	"0"	"3029"	"0"	"c.3029C>T"	"r.(?)"	"p.(Thr1010Met)"	""
"0000884704"	"00005620"	"30"	"3047"	"0"	"3047"	"0"	"c.3047C>T"	"r.(?)"	"p.(Thr1016Met)"	""
"0000884705"	"00025930"	"10"	"4404"	"4"	"4404"	"4"	"c.4404+4T>A"	"r.spl?"	"p.?"	""
"0000884705"	"00005620"	"10"	"4422"	"4"	"4422"	"4"	"c.4422+4T>A"	"r.spl?"	"p.?"	""
"0000931832"	"00005620"	"50"	"1927"	"0"	"1927"	"0"	"c.1927G>A"	"r.(?)"	"p.(Val643Ile)"	""
"0000931833"	"00005620"	"50"	"2393"	"0"	"2393"	"0"	"c.2393T>G"	"r.(?)"	"p.(Met798Arg)"	""
"0000931834"	"00005620"	"70"	"3461"	"0"	"3461"	"0"	"c.3461T>A"	"r.(?)"	"p.(Met1154Lys)"	""
"0000931835"	"00005620"	"70"	"3752"	"0"	"3752"	"0"	"c.3752T>A"	"r.(?)"	"p.(Leu1251His)"	""
"0000931836"	"00005620"	"90"	"3802"	"0"	"3802"	"0"	"c.3802C>T"	"r.(?)"	"p.(Arg1268*)"	""
"0000974891"	"00025930"	"50"	"637"	"0"	"637"	"0"	"c.637G>A"	"r.(?)"	"p.(Gly213Ser)"	""
"0000974891"	"00005620"	"50"	"655"	"0"	"655"	"0"	"c.655G>A"	"r.(?)"	"p.(Gly219Ser)"	""
"0000974892"	"00025930"	"50"	"713"	"0"	"713"	"0"	"c.713G>A"	"r.(?)"	"p.(Arg238Gln)"	""
"0000974892"	"00005620"	"50"	"731"	"0"	"731"	"0"	"c.731G>A"	"r.(?)"	"p.(Arg244Gln)"	""
"0000974893"	"00025930"	"50"	"1097"	"0"	"1097"	"0"	"c.1097A>G"	"r.(?)"	"p.(His366Arg)"	""
"0000974893"	"00005620"	"50"	"1115"	"0"	"1115"	"0"	"c.1115A>G"	"r.(?)"	"p.(His372Arg)"	""
"0000974894"	"00025930"	"50"	"1673"	"0"	"1673"	"0"	"c.1673A>G"	"r.(?)"	"p.(Asn558Ser)"	""
"0000974894"	"00005620"	"50"	"1691"	"0"	"1691"	"0"	"c.1691A>G"	"r.(?)"	"p.(Asn564Ser)"	""
"0000974895"	"00025930"	"50"	"3634"	"0"	"3634"	"0"	"c.3634A>G"	"r.(?)"	"p.(Thr1212Ala)"	""
"0000974895"	"00005620"	"50"	"3652"	"0"	"3652"	"0"	"c.3652A>G"	"r.(?)"	"p.(Thr1218Ala)"	""
"0000985864"	"00025930"	"90"	"2549"	"0"	"2549"	"0"	"c.2549G>T"	"r.(?)"	"p.(Arg850Leu)"	""
"0000992411"	"00025930"	"50"	"3538"	"0"	"3538"	"0"	"c.3538G>A"	"r.(?)"	"p.(Ala1180Thr)"	""
"0000992411"	"00005620"	"50"	"3556"	"0"	"3556"	"0"	"c.3556G>A"	"r.(?)"	"p.(Ala1186Thr)"	""
"0000992412"	"00025930"	"50"	"3643"	"0"	"3643"	"0"	"c.3643A>G"	"r.(?)"	"p.(Ile1215Val)"	""
"0000992412"	"00005620"	"50"	"3661"	"0"	"3661"	"0"	"c.3661A>G"	"r.(?)"	"p.(Ile1221Val)"	""
"0001032927"	"00025930"	"50"	"317"	"0"	"317"	"0"	"c.317C>T"	"r.(?)"	"p.(Ala106Val)"	""
"0001032927"	"00005620"	"50"	"335"	"0"	"335"	"0"	"c.335C>T"	"r.(?)"	"p.(Ala112Val)"	""
"0001032928"	"00025930"	"50"	"2446"	"0"	"2446"	"0"	"c.2446T>G"	"r.(?)"	"p.(Cys816Gly)"	""
"0001032928"	"00005620"	"50"	"2464"	"0"	"2464"	"0"	"c.2464T>G"	"r.(?)"	"p.(Cys822Gly)"	""
"0001032929"	"00025930"	"70"	"3266"	"0"	"3266"	"0"	"c.3266G>A"	"r.(?)"	"p.(Arg1089His)"	""
"0001032929"	"00005620"	"70"	"3284"	"0"	"3284"	"0"	"c.3284G>A"	"r.(?)"	"p.(Arg1095His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 324
"{{screeningid}}"	"{{variantid}}"
"0000111382"	"0000178775"
"0000111383"	"0000178583"
"0000111384"	"0000178730"
"0000111385"	"0000178599"
"0000111385"	"0000178720"
"0000111386"	"0000178714"
"0000111386"	"0000178731"
"0000111387"	"0000178742"
"0000111388"	"0000178764"
"0000111389"	"0000178444"
"0000111389"	"0000178663"
"0000111390"	"0000178455"
"0000111390"	"0000178776"
"0000111391"	"0000178466"
"0000111392"	"0000178477"
"0000111393"	"0000178488"
"0000111394"	"0000178499"
"0000111395"	"0000178510"
"0000111395"	"0000178630"
"0000111396"	"0000178521"
"0000111396"	"0000178526"
"0000111397"	"0000178532"
"0000111397"	"0000178543"
"0000111398"	"0000178535"
"0000111398"	"0000178555"
"0000111399"	"0000178566"
"0000111400"	"0000178577"
"0000111401"	"0000178588"
"0000111402"	"0000178621"
"0000111403"	"0000178632"
"0000111404"	"0000178643"
"0000111405"	"0000178654"
"0000111406"	"0000178666"
"0000111407"	"0000178677"
"0000111408"	"0000178688"
"0000111409"	"0000178699"
"0000111410"	"0000178710"
"0000111411"	"0000178715"
"0000111412"	"0000178615"
"0000111412"	"0000178716"
"0000111413"	"0000178717"
"0000111414"	"0000178718"
"0000111415"	"0000178719"
"0000111416"	"0000178721"
"0000111417"	"0000178722"
"0000111417"	"0000178747"
"0000111418"	"0000178723"
"0000111419"	"0000178724"
"0000111420"	"0000178725"
"0000111421"	"0000178726"
"0000111422"	"0000178727"
"0000111423"	"0000178728"
"0000111424"	"0000178729"
"0000111425"	"0000178732"
"0000111425"	"0000178733"
"0000111426"	"0000178734"
"0000111426"	"0000178735"
"0000111427"	"0000178736"
"0000111427"	"0000178762"
"0000111428"	"0000178737"
"0000111429"	"0000178738"
"0000111430"	"0000178637"
"0000111430"	"0000178739"
"0000111431"	"0000178740"
"0000111432"	"0000178741"
"0000111433"	"0000178743"
"0000111434"	"0000178744"
"0000111434"	"0000178746"
"0000111435"	"0000178745"
"0000111436"	"0000178752"
"0000111437"	"0000178756"
"0000111438"	"0000178757"
"0000111439"	"0000178758"
"0000111440"	"0000178759"
"0000111441"	"0000178760"
"0000111442"	"0000178450"
"0000111442"	"0000178761"
"0000111443"	"0000178763"
"0000111444"	"0000178765"
"0000111445"	"0000178766"
"0000111446"	"0000178767"
"0000111447"	"0000178768"
"0000111448"	"0000178769"
"0000111449"	"0000178770"
"0000111449"	"0000178771"
"0000111450"	"0000178772"
"0000111451"	"0000178773"
"0000111452"	"0000178774"
"0000111453"	"0000178777"
"0000111454"	"0000178778"
"0000111455"	"0000178779"
"0000111456"	"0000178780"
"0000111457"	"0000178782"
"0000111458"	"0000178783"
"0000111459"	"0000178784"
"0000111460"	"0000178785"
"0000111461"	"0000178445"
"0000111461"	"0000178446"
"0000111462"	"0000178447"
"0000111462"	"0000178448"
"0000111463"	"0000178449"
"0000111463"	"0000178562"
"0000111464"	"0000178451"
"0000111464"	"0000178489"
"0000111465"	"0000178452"
"0000111466"	"0000178453"
"0000111467"	"0000178454"
"0000111468"	"0000178456"
"0000111469"	"0000178457"
"0000111469"	"0000178458"
"0000111470"	"0000178460"
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