### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C5orf42)
# 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}}"
"C5orf42"	"chromosome 5 open reading frame 42"	"5"	"p13.2"	"unknown"	"NC_000005.9"	"UD_132438754299"	""	"https://www.LOVD.nl/CPLANE1"	""	"1"	"25801"	"65250"	"614571"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">NOTE: gene name changed from C5orf42 to CPLANE1</font>\r\nEstablishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/C5orf42_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">NOTE: gene name changed from C5orf42 to CPLANE1</font>"	"-1"	""	"-1"	"00000"	"2012-04-18 00:00:00"	"00006"	"2022-10-20 12:19:44"	"00006"	"2025-05-08 16:07:13"


## 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}}"
"00001675"	"C5orf42"	"chromosome 5 open reading frame 42"	"001"	"NM_023073.3"	""	"NP_075561.3"	""	""	""	"-231"	"10968"	"9594"	"37106330"	"37249530"	"00000"	"2012-09-13 13:45:29"	""	""
"00025749"	"C5orf42"	"transcript variant 1"	"000"	"NM_001384732.1"	""	"NP_001371661.1"	""	""	""	"-179"	"11123"	"9756"	"37249478"	"37106337"	"00006"	"2022-10-20 12:20:09"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 10
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00002"	"JBTS1"	"Joubert syndrome, type 1 (JBTS1)"	"AR"	"213300"	""	""	""	"00006"	"2012-05-17 22:47:36"	"00006"	"2021-12-10 21:51:32"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00305"	"OFD6"	"orofaciodigital syndrome, type VI (OFD-6)"	"AR"	"277170"	""	""	""	"00006"	"2014-01-19 12:29:11"	"00006"	"2021-12-10 21:51:32"
"00609"	"JBTS17"	"Joubert syndrome, type 17 (JBTS-17)"	"AR"	"614615"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04254"	"CLP"	"cleft lip, cleft palate (CLP)"	""	""	""	""	""	"00006"	"2015-05-08 09:59:28"	"00006"	"2015-05-08 10:00:15"
"05109"	"JBTS"	"Joubert syndrome (JBTS)"	""	""	""	""	""	"00006"	"2016-01-09 00:37:44"	""	""
"05578"	"MKS"	"Meckel syndrome (MKS, Meckel-Gruber syndrome)"	""	""	""	""	""	"00006"	"2019-02-22 22:26:27"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"C5orf42"	"00139"
"C5orf42"	"00305"
"C5orf42"	"00609"


## Individuals ## Do not remove or alter this header ##
## Count = 153
"{{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}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00028912"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"2-37 Pat1"
"00028916"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-38 Pat5"
"00028917"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-42 Pat6"
"00028918"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-53 Pat7"
"00028919"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-58 Pat8"
"00028920"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-64 Pat9"
"00028921"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"2-57 Pat10"
"00050340"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"proband"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00050355"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"uninherited diplotypes"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00050576"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"M"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00103638"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"F"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103639"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"M"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103640"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"F"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103641"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"F"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103642"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"M"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103643"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"F"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103644"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"M"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103645"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"M"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103646"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"F"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103647"	""	""	""	"1"	""	"00006"	"{PMID:Srour 2012:22425360}"	""	"F"	"no"	"Canada"	""	"0"	""	""	"French Canadian"	""
"00103648"	""	""	""	"1"	""	"00010"	""	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	""
"00103649"	""	""	""	"1"	""	"00010"	"{PMID:Shaheen 2013:23169490}"	""	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"23169490-FamMKS_F15"
"00103650"	""	""	""	"1"	""	"01958"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00103651"	""	""	""	"1"	""	"01958"	""	""	""	""	""	""	"0"	""	""	""	""
"00103652"	""	""	""	"1"	""	"01958"	""	""	""	""	""	""	"0"	""	""	""	""
"00103653"	""	""	""	"1"	""	"01958"	""	""	""	""	""	""	"0"	""	""	""	""
"00231413"	""	""	""	"3"	""	"03278"	"{PMID:Cox 2019:31215115}"	"3-generation family, 3 affected (2F, M)"	"F;M"	""	"Colombia"	""	"0"	""	""	""	"Fam22"
"00293860"	""	""	""	"30"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293861"	""	""	""	"53"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293862"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293863"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293864"	""	""	""	"169"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293865"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293866"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00293867"	""	""	""	"10"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00305032"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00308001"	""	""	""	"1"	""	"01807"	""	""	"?"	""	""	""	"0"	""	""	""	""
"00358853"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam11"
"00358867"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam28"
"00361895"	""	""	""	"1"	""	"03219"	""	""	""	""	""	""	""	""	""	""	""
"00363528"	""	""	""	"2"	""	"00000"	"{PMID:Srour 2015:26477546}"	"family, 2 affected"	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam301Pat777,301"
"00363529"	""	""	"00363528"	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	"relative"	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam301Pat1122,301"
"00363530"	""	""	""	"2"	""	"00000"	"{PMID:Srour 2015:26477546}"	"family, 2 affected"	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam394Pat1113,394"
"00363531"	""	""	"00363530"	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	"relative"	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam394Pat0,394"
"00363532"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam406Pat1094,406"
"00363533"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam468Pat1281,468"
"00363534"	""	""	""	"2"	""	"00000"	"{PMID:Srour 2015:26477546}"	"family, 2 affected"	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam474Pat1304,474"
"00363535"	""	""	"00363534"	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	"relative"	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam474Fetus474"
"00363536"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam479Pat1317,479"
"00363537"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam480Pat1320,48"
"00363538"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam489Pat1345,489"
"00363539"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam551Pat1546,551"
"00363540"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam590Pat1673,59"
"00363541"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam677Pat1951,677"
"00363542"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam708Pat2049,708"
"00363543"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"FamHSJ-JBTS-clin3PatHSJ-JBTS-3"
"00363544"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"F"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"FamHSJ-JBTS-clin4PatHSJ-JBTS-4"
"00372147"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW007-3"
"00372148"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW033-3"
"00372149"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW034-3"
"00372150"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW039-3"
"00372151"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW119-3"
"00372152"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW184-3"
"00372153"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW184-4"
"00372154"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW185-3"
"00372155"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW186-3"
"00372156"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW186-4"
"00372157"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW190-4"
"00372158"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW190-5"
"00372159"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW191-3"
"00372160"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW194-3"
"00372161"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW194-4"
"00372162"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW195-3"
"00372163"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW196-3"
"00372164"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW197-3"
"00372165"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW199-3"
"00372166"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW210-3"
"00372167"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW216-3"
"00372168"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW222-3"
"00372169"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW231-3"
"00372170"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW243-3"
"00372171"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW245-3"
"00372172"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW252-3"
"00372173"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW255-3"
"00372174"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW268-3"
"00372175"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW273-3"
"00372176"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW276-3"
"00372177"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW278-3"
"00372178"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW283-3"
"00372179"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW295-3"
"00372180"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW297-3"
"00372181"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW300-3"
"00372182"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW304-4"
"00372183"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW305-3"
"00372372"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW317-3"
"00373389"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"1-61"
"00373394"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"2-45"
"00373395"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"2-46"
"00373396"	""	""	""	"1"	""	"00000"	"{PMID:Kroes 2016:25920555}"	""	""	""	""	""	"0"	""	""	"Europe-N"	"2-47"
"00374602"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"S-2895"
"00377622"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 18"	"M"	""	"United States"	""	"0"	""	""	""	"488"
"00377623"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 19"	"F"	""	"United States"	""	"0"	""	""	""	"355"
"00377624"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 81"	"F"	""	"United States"	""	"0"	""	""	""	"458"
"00377625"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 20"	"F"	""	"United States"	""	"0"	""	""	""	"523"
"00377626"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 18"	"F"	""	"United States"	""	"0"	""	""	""	"487"
"00377627"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 21"	"M"	""	"United States"	""	"0"	""	""	""	"471"
"00377628"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 22"	"F"	""	"United States"	""	"0"	""	""	""	"534"
"00377629"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 24"	"M"	""	"United States"	""	"0"	""	""	""	"404"
"00377630"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 23"	"M"	""	"United States"	""	"0"	""	""	""	"501"
"00377631"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 23"	"F"	""	"United States"	""	"0"	""	""	""	"500"
"00377632"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 25"	"F"	""	"United States"	""	"0"	""	""	""	"568"
"00377633"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 27"	"M"	""	"United States"	""	"0"	""	""	""	"491"
"00377634"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 26"	"M"	""	"United States"	""	"0"	""	""	""	"528"
"00377635"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 28"	"F"	""	"United States"	""	"0"	""	""	""	"482"
"00377636"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 28"	"M"	""	"United States"	""	"0"	""	""	""	"481"
"00379587"	""	""	""	"1"	""	"00000"	"{PMID:alazami-2012:22693042}"	""	"F"	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00379588"	""	""	""	"2"	""	"00000"	"{PMID:alazami-2012:22693042}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00379589"	""	""	""	"2"	""	"00000"	"{PMID:alazami-2012:22693042}"	""	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00386798"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2954_004539"
"00387907"	""	""	""	"3"	""	"00006"	"{PMID:Hu 2019:29302074}"	"family, 3 affected individuals, first cousin parents"	""	"yes"	"Iran"	""	"0"	""	""	"Persia"	"M9100019"
"00388017"	""	""	""	"1"	""	"00000"	"{PMID:Enokizono 2017:28431631}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"1"
"00388018"	""	""	""	"1"	""	"00000"	"{PMID:Enokizono 2017:28431631}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"2"
"00388019"	""	""	""	"1"	""	"00000"	"{PMID:Enokizono 2017:28431631}"	"Ohba 2013"	"F"	""	"Japan"	""	"0"	""	""	""	"3"
"00388020"	""	""	""	"1"	""	"00000"	"{PMID:Enokizono 2017:28431631}"	""	"M"	""	"Japan"	""	"0"	""	""	""	"4"
"00388021"	""	""	""	"1"	""	"00000"	"{PMID:Enokizono 2017:28431631}"	"Ohba 2013"	"M"	""	"Japan"	""	"0"	""	""	""	"5"
"00388093"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"458"
"00388096"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"471"
"00388100"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"481"
"00388101"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"482"
"00388103"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"491"
"00388106"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"500"
"00388107"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"501"
"00388116"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"523"
"00388117"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"528"
"00388119"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"534"
"00388132"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"568"
"00407645"	""	""	""	"1"	""	"00000"	"{PMID:Kang 2016:27491411}"	""	"?"	""	"Korea, South (Republic)"	""	"0"	""	""	""	"J-102"
"00408801"	""	""	""	"1"	""	"00000"	"{PMID:Alazami 2012:22693042}"	""	"F"	"yes"	""	""	"0"	""	""	""	"JS_F5"
"00408802"	""	""	""	"1"	""	"00000"	"{PMID:Alazami 2012:22693042}"	""	"F"	"yes"	""	""	"0"	""	""	""	"JS_F6"
"00408803"	""	""	""	"1"	""	"00000"	"{PMID:Alazami 2012:22693042}"	""	"F"	"yes"	""	""	"0"	""	""	""	"JS_F7"
"00408970"	""	""	""	"1"	""	"00000"	"{PMID:Bai 2020:32335874}"	"family 2, proband (abstract only)"	""	""	""	""	"0"	""	""	""	"?"
"00419524"	""	""	""	"1"	""	"02300"	"{PMID:Marinakis 2021:34008892}"	""	"M"	""	"Greece"	""	"0"	""	""	""	"20111"
"00426117"	""	""	""	"1"	""	"00006"	"{PMID:Al-Kasbi 2022:36344539}"	"patient, other affecteds in family"	"M"	""	"Oman"	""	"0"	""	""	""	"10SS8400"
"00449688"	""	""	""	"1"	""	"04682"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR408"
"00449689"	""	""	""	"1"	""	"04682"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR590"
"00449690"	""	""	""	"1"	""	"04682"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR445"
"00449691"	""	""	""	"1"	""	"04682"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR82"
"00465298"	""	""	""	"1"	""	"00006"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	""	""	""	"0"	""	""	""	"COR508"
"00465302"	""	""	""	"1"	""	"00006"	"{PMID:Zhang 2022:35958498}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	""	"China"	""	"0"	""	""	""	"Pat4"
"00465303"	""	""	""	"1"	""	"00006"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR437"
"00465304"	""	""	""	"1"	""	"00006"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR545"
"00465305"	""	""	""	"1"	""	"00006"	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	""	""	"0"	""	""	""	"COR99"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 153
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00028912"	"00002"
"00028916"	"00002"
"00028917"	"00002"
"00028918"	"00002"
"00028919"	"00002"
"00028920"	"00002"
"00028921"	"00002"
"00050340"	"00198"
"00050355"	"00198"
"00050576"	"00198"
"00103638"	"05109"
"00103639"	"05109"
"00103640"	"05109"
"00103641"	"05109"
"00103642"	"05109"
"00103643"	"05109"
"00103644"	"05109"
"00103645"	"05109"
"00103646"	"05109"
"00103647"	"05109"
"00103648"	"05109"
"00103649"	"05578"
"00103650"	"05109"
"00103651"	"05109"
"00103652"	"05109"
"00103653"	"05109"
"00231413"	"04254"
"00293860"	"00198"
"00293861"	"00198"
"00293862"	"00198"
"00293863"	"00198"
"00293864"	"00198"
"00293865"	"00198"
"00293866"	"00198"
"00293867"	"00198"
"00305032"	"00198"
"00308001"	"00198"
"00358853"	"05109"
"00358867"	"05109"
"00361895"	"00609"
"00363528"	"05109"
"00363529"	"05109"
"00363530"	"05109"
"00363531"	"05109"
"00363532"	"05109"
"00363533"	"05109"
"00363534"	"05109"
"00363535"	"05109"
"00363536"	"05109"
"00363537"	"05109"
"00363538"	"05109"
"00363539"	"05109"
"00363540"	"05109"
"00363541"	"05109"
"00363542"	"05109"
"00363543"	"05109"
"00363544"	"05109"
"00372147"	"05109"
"00372148"	"05109"
"00372149"	"05109"
"00372150"	"05109"
"00372151"	"05109"
"00372152"	"05109"
"00372153"	"05109"
"00372154"	"05109"
"00372155"	"05109"
"00372156"	"05109"
"00372157"	"05109"
"00372158"	"05109"
"00372159"	"05109"
"00372160"	"05109"
"00372161"	"05109"
"00372162"	"05109"
"00372163"	"05109"
"00372164"	"05109"
"00372165"	"05109"
"00372166"	"05109"
"00372167"	"05109"
"00372168"	"05109"
"00372169"	"05109"
"00372170"	"05109"
"00372171"	"05109"
"00372172"	"05109"
"00372173"	"05109"
"00372174"	"05109"
"00372175"	"05109"
"00372176"	"05109"
"00372177"	"05109"
"00372178"	"05109"
"00372179"	"05109"
"00372180"	"05109"
"00372181"	"05109"
"00372182"	"05109"
"00372183"	"05109"
"00372372"	"05109"
"00373389"	"04214"
"00373394"	"04214"
"00373395"	"04214"
"00373396"	"04214"
"00374602"	"00198"
"00377622"	"04214"
"00377623"	"04214"
"00377624"	"04214"
"00377625"	"04214"
"00377626"	"04214"
"00377627"	"04214"
"00377628"	"04214"
"00377629"	"04214"
"00377630"	"04214"
"00377631"	"04214"
"00377632"	"04214"
"00377633"	"04214"
"00377634"	"04214"
"00377635"	"04214"
"00377636"	"04214"
"00379587"	"04214"
"00379588"	"04214"
"00379589"	"04214"
"00386798"	"04214"
"00387907"	"00139"
"00388017"	"04214"
"00388018"	"04214"
"00388019"	"04214"
"00388020"	"04214"
"00388021"	"04214"
"00388093"	"04214"
"00388096"	"04214"
"00388100"	"04214"
"00388101"	"04214"
"00388103"	"04214"
"00388106"	"04214"
"00388107"	"04214"
"00388116"	"04214"
"00388117"	"04214"
"00388119"	"04214"
"00388132"	"04214"
"00407645"	"04214"
"00408801"	"05109"
"00408802"	"05109"
"00408803"	"05109"
"00408970"	"05109"
"00419524"	"00198"
"00426117"	"00139"
"00449688"	"05109"
"00449689"	"05109"
"00449690"	"05109"
"00449691"	"05109"
"00465298"	"05109"
"00465302"	"05109"
"00465303"	"05109"
"00465304"	"05109"
"00465305"	"05109"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00002, 00139, 00198, 00305, 00609, 01157, 04214, 04254, 05109, 05578
## Count = 144
"{{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}}"
"0000025008"	"00002"	"00028912"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025012"	"00002"	"00028916"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025013"	"00002"	"00028917"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025014"	"00002"	"00028918"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025015"	"00002"	"00028919"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025016"	"00002"	"00028920"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025017"	"00002"	"00028921"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000036952"	"00198"	"00050340"	"00006"	"Unknown"	""	"severe undiagnosed developmental disorders"	""	""	""	""	""	""	""	""	""	""	""
"0000036967"	"00198"	"00050355"	"00006"	"Unknown"	""	"severe undiagnosed developmental disorders"	""	""	""	""	""	""	""	""	""	""	""
"0000037188"	"00198"	"00050576"	"00006"	"Isolated (sporadic)"	""	"oculomotor apraxia, global developmental delay, congenital strabismus, rotary nystagmus, lactose intolerance, talipes valgus, constipation"	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	"3w"	""	""	""	""	""	""	""	""	""
"0000081565"	"05109"	"00103638"	"00006"	"Unknown"	"8y"	"Developmental delay; breathing abnormality; molar tooth sign"	""	""	""	""	""	""	""	""	""	""	""
"0000081566"	"05109"	"00103639"	"00006"	"Unknown"	"1y6m"	"Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, ? syndactyly left hand"	""	""	""	""	""	""	""	""	""	""	""
"0000081567"	"05109"	"00103640"	"00006"	"Unknown"	"3y"	"Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign"	""	""	""	""	""	""	""	""	""	""	""
"0000081568"	"05109"	"00103641"	"00006"	"Unknown"	"52y"	"Developmental delay; oculomotor apraxia; breathing abnormality"	""	""	""	""	""	""	""	""	""	""	""
"0000081569"	"05109"	"00103642"	"00006"	"Unknown"	"45y"	"Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign"	""	""	""	""	""	""	""	""	""	""	""
"0000081570"	"05109"	"00103643"	"00006"	"Unknown"	"4y"	"Developmental delay; oculomotor apraxia; breathing abnormality; limb abnormality; molar tooth sign, preaxial and postaxial polydactyly fo the four limbs"	""	""	""	""	""	""	""	""	""	""	""
"0000081571"	"05109"	"00103644"	"00006"	"Unknown"	"10y"	"Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign"	""	""	""	""	""	""	""	""	""	""	""
"0000081572"	"05109"	"00103645"	"00006"	"Unknown"	"7y"	"Developmental delay; oculomotor apraxia; breathing abnormality; molar tooth sign"	""	""	""	""	""	""	""	""	""	""	""
"0000081573"	"05109"	"00103646"	"00006"	"Unknown"	"13y"	"Developmental delay; oculomotor apraxia; molar tooth sign"	""	""	""	""	""	""	""	""	""	""	""
"0000081574"	"05109"	"00103647"	"00006"	"Unknown"	"31y"	"Developmental delay; oculomotor apraxia; molar tooth sign"	""	""	""	""	""	""	""	""	""	""	""
"0000081575"	"05109"	"00103648"	"00010"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000081577"	"05109"	"00103650"	"01958"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000081578"	"05109"	"00103651"	"01958"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000081579"	"05109"	"00103652"	"01958"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000081580"	"05109"	"00103653"	"01958"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000170821"	"05578"	"00103649"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"JBTS-17"	"Meckel-Gruber syndrome"	""
"0000173805"	"04254"	"00231413"	"03278"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000233424"	"00198"	"00308001"	"01807"	"Unknown"	""	"Cleft palate (HP:0000175); Hand polydactyly (HP:0001161); Foot polydactyly (HP:0001829); Finger syndactyly (HP:0006101); Cleft lip (HP:0410030)"	""	""	""	""	""	""	""	""	""	""	""
"0000254111"	"05109"	"00358853"	"00000"	"Familial, autosomal recessive"	""	"severe intellectual disability; severe developmental delay; hypotonia, ataxia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254125"	"05109"	"00358867"	"00000"	"Familial, autosomal recessive"	""	"; moderate developmental delay; hypotonia, neonatal dysregulated breathing; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; polydactyly; tongue hamartoma"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000257289"	"00609"	"00361895"	"03219"	"Familial, autosomal recessive"	""	"Developmental delay,molar tooth sign and cerebellar vermis agenesis on MRI brain"	""	""	""	""	""	""	""	""	""	""	""
"0000258878"	"05109"	"00363528"	"00000"	"Familial, autosomal recessive"	"5y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258879"	"05109"	"00363529"	"00000"	"Familial, autosomal recessive"	"3y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258880"	"05109"	"00363530"	"00000"	"Familial, autosomal recessive"	"54y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258881"	"05109"	"00363531"	"00000"	"Familial, autosomal recessive"	"46y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258882"	"05109"	"00363532"	"00000"	"Familial, autosomal recessive"	"10y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258883"	"05109"	"00363533"	"00000"	"Familial, autosomal recessive"	"32y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258884"	"05109"	"00363534"	"00000"	"Familial, autosomal recessive"	"6y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258885"	"05109"	"00363535"	"00000"	"Familial, autosomal recessive"	"5m"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258886"	"05109"	"00363536"	"00000"	"Familial, autosomal recessive"	"15y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258887"	"05109"	"00363537"	"00000"	"Familial, autosomal recessive"	"12y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258888"	"05109"	"00363538"	"00000"	"Familial, autosomal recessive"	"8y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258889"	"05109"	"00363539"	"00000"	"Familial, autosomal recessive"	"19y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258890"	"05109"	"00363540"	"00000"	"Familial, autosomal recessive"	"12y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258891"	"05109"	"00363541"	"00000"	"Familial, autosomal recessive"	"1y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258892"	"05109"	"00363542"	"00000"	"Familial, autosomal recessive"	"1y6m"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258893"	"05109"	"00363543"	"00000"	"Familial, autosomal recessive"	"28y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258894"	"05109"	"00363544"	"00000"	"Familial, autosomal recessive"	"3y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267468"	"05109"	"00372147"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267469"	"05109"	"00372148"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267470"	"05109"	"00372149"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267471"	"05109"	"00372150"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267472"	"05109"	"00372151"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267473"	"05109"	"00372152"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267474"	"05109"	"00372153"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267475"	"05109"	"00372154"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267476"	"05109"	"00372155"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267477"	"05109"	"00372156"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267478"	"05109"	"00372157"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267479"	"05109"	"00372158"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267480"	"05109"	"00372159"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267481"	"05109"	"00372160"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267482"	"05109"	"00372161"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267483"	"05109"	"00372162"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267484"	"05109"	"00372163"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267485"	"05109"	"00372164"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267486"	"05109"	"00372165"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267487"	"05109"	"00372166"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267488"	"05109"	"00372167"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267489"	"05109"	"00372168"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267490"	"05109"	"00372169"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267491"	"05109"	"00372170"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267492"	"05109"	"00372171"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267493"	"05109"	"00372172"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267494"	"05109"	"00372173"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267495"	"05109"	"00372174"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267496"	"05109"	"00372175"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267497"	"05109"	"00372176"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267498"	"05109"	"00372177"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267499"	"05109"	"00372178"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267500"	"05109"	"00372179"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267501"	"05109"	"00372180"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267502"	"05109"	"00372181"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267503"	"05109"	"00372182"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267504"	"05109"	"00372183"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267693"	"05109"	"00372372"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268665"	"04214"	"00373389"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268670"	"04214"	"00373394"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268671"	"04214"	"00373395"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000268672"	"04214"	"00373396"	"00000"	"Unknown"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000269812"	"00198"	"00374602"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272774"	"04214"	"00377622"	"00000"	"Familial, autosomal recessive"	""	"nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272775"	"04214"	"00377623"	"00000"	"Familial, autosomal recessive"	""	"strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272776"	"04214"	"00377624"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272777"	"04214"	"00377625"	"00000"	"Familial, autosomal recessive"	""	"liver disease, oculomotor apraxia, strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272778"	"04214"	"00377626"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272779"	"04214"	"00377627"	"00000"	"Familial, autosomal recessive"	""	"polydactylyoculomotor apraxia, nystagmus, strabismus, retinal degeneration, vessel attenuation, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272780"	"04214"	"00377628"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus, strabismus, ptosis"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272781"	"04214"	"00377629"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272782"	"04214"	"00377630"	"00000"	"Familial, autosomal recessive"	""	"liver disease, polydactyly, nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272783"	"04214"	"00377631"	"00000"	"Familial, autosomal recessive"	""	"liver disease, polydactyly, nystagmus, strabismus, ptosis"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272784"	"04214"	"00377632"	"00000"	"Familial, autosomal recessive"	""	"nystagmus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272785"	"04214"	"00377633"	"00000"	"Familial, autosomal recessive"	""	"oculomotor apraxia, nystagmus, strabismus, ptosis, retinal degeneration, vessel attenuation, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272786"	"04214"	"00377634"	"00000"	"Familial, autosomal recessive"	""	"liver disease, oculomotor apraxia, nystagmus, strabismus"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272787"	"04214"	"00377635"	"00000"	"Familial, autosomal recessive"	""	"liver disease, polydactylyoculomotor apraxia, strabismus, ptosis, retinal degeneration, vessel attenuation, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272788"	"04214"	"00377636"	"00000"	"Familial, autosomal recessive"	""	"liver disease, polydactylyoculomotor apraxia, ptosis"	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000273441"	"04214"	"00379587"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JS)"	""
"0000273442"	"04214"	"00379588"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JS)"	""
"0000273443"	"04214"	"00379589"	"00008"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JS)"	""
"0000280598"	"04214"	"00386798"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000281475"	"00139"	"00387907"	"00006"	"Familial, autosomal recessive"	""	"syndromic intellectual disability, no microcephaly"	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000281612"	"04214"	"00388017"	"00000"	"Familial, autosomal recessive"	""	"Hypotonia/ataxia, developmental delay/mental retardation, oculomotor apraxia"	"1y"	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281613"	"04214"	"00388018"	"00000"	"Familial, autosomal recessive"	""	"Hypotonia/ataxia, developmental delay/mental retardation, oculomotor apraxia"	"3y"	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281614"	"04214"	"00388019"	"00000"	"Familial, autosomal recessive"	""	"Hypotonia/ataxia, developmental delay/mental retardation, oculomotor apraxia, respiratory abnormalities"	"1y"	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281615"	"04214"	"00388020"	"00000"	"Familial, autosomal recessive"	""	"Hypotonia/ataxia, developmental delay/mental retardation, oculomotor apraxia"	"1y"	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281616"	"04214"	"00388021"	"00000"	"Familial, autosomal recessive"	""	"Hypotonia/ataxia, developmental delay/mental retardation, oculomotor apraxia"	"1y"	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281687"	"04214"	"00388093"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281690"	"04214"	"00388096"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281694"	"04214"	"00388100"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281695"	"04214"	"00388101"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281697"	"04214"	"00388103"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281700"	"04214"	"00388106"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281701"	"04214"	"00388107"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281710"	"04214"	"00388116"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281711"	"04214"	"00388117"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281713"	"04214"	"00388119"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000281726"	"04214"	"00388132"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000299792"	"04214"	"00407645"	"00000"	"Familial, autosomal recessive"	""	"end-stage renal disease (years): 6.5, extra-renal manifestations: Leber congenital amaurosis, mental retardation, brain atrophy, Caroli disease"	""	""	""	""	""	""	""	""	"nephronophthisis-related ciliopathy"	""	""
"0000300920"	"05109"	"00408801"	"00000"	"Familial, autosomal recessive"	""	"prominent forehead, hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic ﬁbrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance ﬁnd"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000300921"	"05109"	"00408802"	"00000"	"Familial, autosomal recessive"	""	"prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic ﬁbrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, hypotonia, no occipital meningocele, typical magnetic resonance ﬁnd"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000300922"	"05109"	"00408803"	"00000"	"Familial, autosomal recessive"	""	"prominent forehead, no hemifacial spasms, strabismus, impaired smooth pursuit, oculomotor apraxia, upturned nose, anteverted nostrils, no hepatic ﬁbrosis, no renal cysts, no polydactyly, delayed psychomotor development, intellectual disability, no ataxia, no hypotonia, occipital meningocele, typical magnetic resonance ﬁndings; abnormal electroretino"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000301088"	"05109"	"00408970"	"00000"	"Familial, autosomal recessive"	""	"cerebellar vermis hypoplasia"	""	""	""	""	""	""	""	""	"Joubert syndrome"	""	""
"0000310805"	"00198"	"00419524"	"02300"	"Familial, autosomal recessive"	"2y"	""	""	""	""	""	""	""	""	""	""	"congenital/syndromic abnormality"	""
"0000317267"	"00139"	"00426117"	"00006"	"Familial, autosomal recessive"	"7y"	""	""	""	""	""	""	""	""	""	"Joubert syndrome 17"	"intellectual disability"	""
"0000338858"	"05109"	"00449688"	"04682"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000338859"	"05109"	"00449689"	"04682"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000338860"	"05109"	"00449690"	"04682"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000338861"	"05109"	"00449691"	"04682"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000350851"	"05109"	"00465298"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"JBTS23"	"Joubert syndrome"	""
"0000350855"	"05109"	"00465302"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"JBTS17"	"Joubert syndrome"	""
"0000350856"	"05109"	"00465303"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"JBTS23"	"Joubert syndrome"	""
"0000350857"	"05109"	"00465304"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"JBTS23"	"Joubert syndrome"	""
"0000350858"	"05109"	"00465305"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"JBTS23"	"Joubert syndrome"	""


## Screenings ## Do not remove or alter this header ##
## Count = 153
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000028942"	"00028912"	"1"	"01188"	"01188"	"2015-01-05 13:30:53"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000028946"	"00028916"	"1"	"01188"	"01188"	"2015-01-05 14:28:29"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000028947"	"00028917"	"1"	"01188"	"01188"	"2015-01-05 14:30:44"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000028948"	"00028918"	"1"	"01188"	"01188"	"2015-01-05 14:33:28"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000028950"	"00028919"	"1"	"01188"	"01188"	"2015-01-05 14:43:07"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000028951"	"00028920"	"1"	"01188"	"01188"	"2015-01-05 14:45:20"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000028952"	"00028921"	"1"	"01188"	"01188"	"2015-01-05 14:47:36"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000050285"	"00050340"	"1"	"00006"	"00006"	"2015-09-27 13:26:52"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050300"	"00050355"	"1"	"00006"	"00006"	"2015-09-27 13:26:52"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000050521"	"00050576"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000104095"	"00103638"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ"	"DNA"	""	""
"0000104096"	"00103639"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ"	"DNA"	""	""
"0000104097"	"00103640"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ"	"DNA"	""	""
"0000104098"	"00103641"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ"	"DNA"	""	""
"0000104099"	"00103642"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	""	""
"0000104100"	"00103643"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ"	"DNA"	""	""
"0000104101"	"00103644"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ"	"DNA"	""	""
"0000104102"	"00103645"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ"	"DNA"	""	""
"0000104103"	"00103646"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ"	"DNA"	""	""
"0000104104"	"00103647"	"0"	"00006"	"00006"	"2012-04-23 14:15:29"	""	""	"SEQ"	"DNA"	""	""
"0000104105"	"00103648"	"0"	"00010"	"00010"	"2012-05-17 19:02:22"	""	""	"PCR"	"DNA;RNA"	""	""
"0000104106"	"00103649"	"1"	"00010"	"00010"	"2012-05-17 19:10:12"	"00006"	"2019-02-22 22:56:14"	"PCR"	"DNA;RNA"	""	""
"0000104107"	"00103650"	"0"	"01958"	"01958"	"2017-04-12 14:18:00"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000104108"	"00103651"	"0"	"01958"	"01958"	"2017-04-13 10:21:27"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000104109"	"00103652"	"0"	"01958"	"01958"	"2017-04-13 10:32:32"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000104110"	"00103653"	"0"	"01958"	"01958"	"2017-04-13 10:38:40"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000232512"	"00231413"	"1"	"03278"	"03278"	"2019-05-02 18:06:52"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000295028"	"00293860"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295029"	"00293861"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295030"	"00293862"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295031"	"00293863"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295032"	"00293864"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295033"	"00293865"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295034"	"00293866"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000295035"	"00293867"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000306161"	"00305032"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000309145"	"00308001"	"1"	"01807"	"01807"	"2020-08-25 11:30:01"	"00001"	"2020-08-25 11:31:04"	"SEQ"	"DNA"	""	""
"0000360085"	"00358853"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360099"	"00358867"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000363123"	"00361895"	"1"	"03219"	"03219"	"2021-04-12 05:51:45"	""	""	"SEQ-NG"	"DNA"	""	""
"0000364756"	"00363528"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364757"	"00363529"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364758"	"00363530"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364759"	"00363531"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364760"	"00363532"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364761"	"00363533"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364762"	"00363534"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364763"	"00363535"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364764"	"00363536"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364765"	"00363537"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364766"	"00363538"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364767"	"00363539"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364768"	"00363540"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364769"	"00363541"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364770"	"00363542"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364771"	"00363543"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364772"	"00363544"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000373376"	"00372147"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373377"	"00372148"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373378"	"00372149"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373379"	"00372150"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373380"	"00372151"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373381"	"00372152"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373382"	"00372153"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373383"	"00372154"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373384"	"00372155"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373385"	"00372156"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373386"	"00372157"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373387"	"00372158"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373388"	"00372159"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373389"	"00372160"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373390"	"00372161"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373391"	"00372162"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373392"	"00372163"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373393"	"00372164"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373394"	"00372165"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373395"	"00372166"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373396"	"00372167"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373397"	"00372168"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373398"	"00372169"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373399"	"00372170"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373400"	"00372171"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373401"	"00372172"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373402"	"00372173"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373403"	"00372174"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373404"	"00372175"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373405"	"00372176"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373406"	"00372177"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373407"	"00372178"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373408"	"00372179"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373409"	"00372180"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373410"	"00372181"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373411"	"00372182"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373412"	"00372183"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373601"	"00372372"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000374624"	"00373389"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000374629"	"00373394"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000374630"	"00373395"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000374631"	"00373396"	"1"	"00000"	"00006"	"2021-05-14 11:33:21"	""	""	"SEQ-NG"	"DNA"	""	"22-gene panel"
"0000375796"	"00374602"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000378826"	"00377622"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378827"	"00377623"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378828"	"00377624"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378829"	"00377625"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378830"	"00377626"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378831"	"00377627"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378832"	"00377628"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378833"	"00377629"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378834"	"00377630"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378835"	"00377631"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378836"	"00377632"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378837"	"00377633"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378838"	"00377634"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378839"	"00377635"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378840"	"00377636"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000380786"	"00379587"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000380787"	"00379588"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000380788"	"00379589"	"1"	"00000"	"00008"	"2021-08-06 03:44:17"	""	""	"PCR;SEQ"	"DNA"	"blood"	""
"0000388026"	"00386798"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000389138"	"00387907"	"1"	"00006"	"00006"	"2021-10-31 12:02:46"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000389256"	"00388017"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389257"	"00388018"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389258"	"00388019"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389259"	"00388020"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389260"	"00388021"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389332"	"00388093"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389335"	"00388096"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389339"	"00388100"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389340"	"00388101"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389342"	"00388103"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389345"	"00388106"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389346"	"00388107"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389355"	"00388116"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389356"	"00388117"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389358"	"00388119"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000389371"	"00388132"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000408897"	"00407645"	"1"	"00000"	"03840"	"2022-04-07 15:22:18"	""	""	"SEQ-NG-I"	"DNA"	""	"targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD"
"0000410066"	"00408801"	"1"	"00000"	"03840"	"2022-04-28 12:52:45"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000410067"	"00408802"	"1"	"00000"	"03840"	"2022-04-28 12:52:45"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000410068"	"00408803"	"1"	"00000"	"03840"	"2022-04-28 12:52:45"	""	""	"SEQ-NG"	"DNA"	"blood"	"exome sequencing"
"0000410235"	"00408970"	"1"	"00000"	"03840"	"2022-04-29 15:13:02"	""	""	"SEQ-NG"	"DNA"	""	"targeted capture and next generation sequencing"
"0000420828"	"00419524"	"1"	"02300"	"00006"	"2022-10-20 16:24:48"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000427437"	"00426117"	"1"	"00006"	"00006"	"2022-11-28 11:02:11"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000451279"	"00449688"	"1"	"04682"	"04682"	"2024-04-30 16:50:01"	""	""	"SEQ-NG"	"DNA"	""	""
"0000451280"	"00449689"	"1"	"04682"	"04682"	"2024-04-30 16:54:22"	"00006"	"2025-05-06 16:04:16"	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	""
"0000451281"	"00449690"	"1"	"04682"	"04682"	"2024-04-30 16:56:38"	""	""	"SEQ-NG"	"DNA"	""	""
"0000451282"	"00449691"	"1"	"04682"	"04682"	"2024-04-30 16:59:47"	""	""	"SEQ-NG"	"DNA"	""	""
"0000466946"	"00465298"	"1"	"00006"	"00006"	"2025-05-06 16:34:48"	""	""	"SEQ-NG"	"DNA"	""	""
"0000466950"	"00465302"	"1"	"00006"	"00006"	"2025-05-08 15:31:30"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000466951"	"00465303"	"1"	"00006"	"00006"	"2025-05-06 16:34:48"	""	""	"SEQ-NG"	"DNA"	""	""
"0000466952"	"00465304"	"1"	"00006"	"00006"	"2025-05-06 16:34:48"	""	""	"SEQ-NG"	"DNA"	""	""
"0000466953"	"00465305"	"1"	"00006"	"00006"	"2025-05-06 16:34:48"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 131
"{{screeningid}}"	"{{geneid}}"
"0000028942"	"AHI1"
"0000028946"	"C5orf42"
"0000028947"	"C5orf42"
"0000028948"	"C5orf42"
"0000028950"	"C5orf42"
"0000028951"	"C5orf42"
"0000028952"	"C5orf42"
"0000050285"	"C5orf42"
"0000050300"	"C5orf42"
"0000050521"	"C5orf42"
"0000104095"	"C5orf42"
"0000104096"	"C5orf42"
"0000104097"	"C5orf42"
"0000104098"	"C5orf42"
"0000104099"	"C5orf42"
"0000104100"	"C5orf42"
"0000104101"	"C5orf42"
"0000104102"	"C5orf42"
"0000104103"	"C5orf42"
"0000104104"	"C5orf42"
"0000104105"	"C5orf42"
"0000104106"	"C5orf42"
"0000104107"	"C5orf42"
"0000104108"	"C5orf42"
"0000104109"	"C5orf42"
"0000104110"	"C5orf42"
"0000232512"	"FST"
"0000360085"	"C5orf42"
"0000360099"	"C5orf42"
"0000364756"	"C5orf42"
"0000364757"	"C5orf42"
"0000364758"	"C5orf42"
"0000364759"	"C5orf42"
"0000364760"	"C5orf42"
"0000364761"	"C5orf42"
"0000364762"	"C5orf42"
"0000364763"	"C5orf42"
"0000364764"	"C5orf42"
"0000364765"	"C5orf42"
"0000364766"	"C5orf42"
"0000364767"	"C5orf42"
"0000364768"	"C5orf42"
"0000364769"	"C5orf42"
"0000364770"	"C5orf42"
"0000364771"	"C5orf42"
"0000364772"	"C5orf42"
"0000373376"	"C5orf42"
"0000373377"	"C5orf42"
"0000373378"	"C5orf42"
"0000373379"	"C5orf42"
"0000373380"	"C5orf42"
"0000373381"	"C5orf42"
"0000373382"	"C5orf42"
"0000373383"	"C5orf42"
"0000373384"	"C5orf42"
"0000373385"	"C5orf42"
"0000373386"	"C5orf42"
"0000373387"	"C5orf42"
"0000373388"	"C5orf42"
"0000373389"	"C5orf42"
"0000373390"	"C5orf42"
"0000373391"	"C5orf42"
"0000373392"	"C5orf42"
"0000373393"	"C5orf42"
"0000373394"	"C5orf42"
"0000373395"	"C5orf42"
"0000373396"	"C5orf42"
"0000373397"	"C5orf42"
"0000373398"	"C5orf42"
"0000373399"	"C5orf42"
"0000373400"	"C5orf42"
"0000373401"	"C5orf42"
"0000373402"	"C5orf42"
"0000373403"	"C5orf42"
"0000373404"	"C5orf42"
"0000373405"	"C5orf42"
"0000373406"	"C5orf42"
"0000373407"	"C5orf42"
"0000373408"	"C5orf42"
"0000373409"	"C5orf42"
"0000373410"	"C5orf42"
"0000373411"	"C5orf42"
"0000373412"	"C5orf42"
"0000373601"	"C5orf42"
"0000374624"	"C5orf42"
"0000374629"	"C5orf42"
"0000374630"	"C5orf42"
"0000374631"	"C5orf42"
"0000375796"	"C5orf42"
"0000378826"	"C5orf42"
"0000378827"	"C5orf42"
"0000378828"	"C5orf42"
"0000378829"	"C5orf42"
"0000378830"	"C5orf42"
"0000378831"	"C5orf42"
"0000378832"	"C5orf42"
"0000378833"	"C5orf42"
"0000378834"	"C5orf42"
"0000378835"	"C5orf42"
"0000378836"	"C5orf42"
"0000378837"	"C5orf42"
"0000378838"	"C5orf42"
"0000378839"	"C5orf42"
"0000378840"	"C5orf42"
"0000380786"	"C5orf42"
"0000380787"	"C5orf42"
"0000380788"	"C5orf42"
"0000388026"	"PRPH2"
"0000389138"	"C5orf42"
"0000389256"	"C5orf42"
"0000389257"	"C5orf42"
"0000389258"	"C5orf42"
"0000389259"	"C5orf42"
"0000389260"	"C5orf42"
"0000389332"	"C5orf42"
"0000389335"	"C5orf42"
"0000389339"	"C5orf42"
"0000389340"	"C5orf42"
"0000389342"	"C5orf42"
"0000389345"	"C5orf42"
"0000389346"	"C5orf42"
"0000389355"	"C5orf42"
"0000389356"	"C5orf42"
"0000389358"	"C5orf42"
"0000389371"	"C5orf42"
"0000408897"	"C5orf42"
"0000410066"	"C5orf42"
"0000410067"	"C5orf42"
"0000410068"	"C5orf42"
"0000410235"	"C5orf42"
"0000451280"	"C5orf42"


## 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 = 586
"{{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}}"
"0000004124"	"0"	"30"	"5"	"37212067"	"37212067"	"subst"	"0"	"00037"	"C5orf42_000009"	"g.37212067A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37211965A>C"	""	"likely benign"	""
"0000052250"	"3"	"70"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"01188"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	"rs141507441"	"0"	""	""	"g.37125330G>A"	""	"likely pathogenic"	""
"0000052251"	"1"	"70"	"5"	"37182969"	"37182969"	"subst"	"0.00696799"	"01188"	"C5orf42_000011"	"g.37182969T>C"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.37182867T>C"	""	"likely pathogenic"	""
"0000052252"	"2"	"70"	"5"	"37244554"	"37244554"	"del"	"0.000151322"	"01188"	"C5orf42_000012"	"g.37244554del"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.37244452del"	""	"likely pathogenic"	""
"0000052253"	"1"	"70"	"5"	"37148334"	"37148334"	"subst"	"0.000130516"	"01188"	"C5orf42_000013"	"g.37148334G>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.37148232G>A"	""	"likely pathogenic"	""
"0000052254"	"2"	"70"	"5"	"0"	"0"	""	"0"	"01188"	"C5orf42_000023"	"g.?"	""	"{PMID:Kroes 2016:25920555}"	""	"NM_023073.3:c.1165G>A (Ala389Thr) ??"	""	"Unknown"	"?"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000052255"	"1"	"70"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"01188"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.37125330G>A"	""	"likely pathogenic"	""
"0000052256"	"2"	"70"	"5"	"37198889"	"37198889"	"subst"	"0"	"01188"	"C5orf42_000014"	"g.37198889A>C"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.37198787A>C"	""	"likely pathogenic"	""
"0000052257"	"1"	"70"	"5"	"37173913"	"37173914"	"del"	"0"	"01188"	"C5orf42_000015"	"g.37173913_37173914del"	""	"{PMID:Kroes 2016:25920555}"	""	"also reported as c.6116delA"	""	"Unknown"	"?"	""	"0"	""	""	"g.37173811_37173812del"	""	"likely pathogenic"	""
"0000052258"	"2"	"70"	"5"	"37221548"	"37221548"	"subst"	"0"	"01188"	"C5orf42_000016"	"g.37221548G>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.37221446G>A"	""	"likely pathogenic"	""
"0000052259"	"1"	"70"	"5"	"37125487"	"37125487"	"del"	"0"	"01188"	"C5orf42_000017"	"g.37125487del"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.37125385del"	""	"likely pathogenic"	""
"0000052394"	"2"	"70"	"5"	"37231126"	"37231126"	"subst"	"0"	"01188"	"C5orf42_000018"	"g.37231126A>C"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.37231024A>C"	""	"likely pathogenic"	""
"0000079237"	"1"	"90"	"5"	"37121807"	"37121807"	"subst"	"0"	"00006"	"C5orf42_000019"	"g.37121807G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"association variant/phenotype uncertain"	"Germline"	""	""	"0"	""	""	"g.37121705G>A"	""	"pathogenic"	""
"0000079252"	"1"	"90"	"5"	"37142583"	"37142583"	"subst"	"0.000382632"	"00006"	"C5orf42_000020"	"g.37142583C>G"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"association variant/phenotype uncertain"	"Germline"	""	""	"0"	""	""	"g.37142481C>G"	""	"pathogenic"	""
"0000079265"	"2"	"90"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00006"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"association variant/phenotype uncertain"	"Germline"	""	""	"0"	""	""	"g.37226811A>C"	""	"pathogenic"	""
"0000079280"	"2"	"90"	"5"	"37226419"	"37226419"	"subst"	"3.21916E-5"	"00006"	"C5orf42_000021"	"g.37226419G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"association variant/phenotype uncertain"	"Germline"	""	""	"0"	""	""	"g.37226317G>A"	""	"pathogenic"	""
"0000079501"	"11"	"90"	"5"	"37121807"	"37121807"	"subst"	"0"	"00006"	"C5orf42_000019"	"g.37121807G>A"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37121705G>A"	""	"pathogenic"	""
"0000079681"	"21"	"90"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00006"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37226811A>C"	""	"pathogenic"	""
"0000168711"	"1"	"57"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00006"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37187488G>A"	""	"VUS"	""
"0000168712"	"2"	"57"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00006"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37167046C>T"	""	"VUS"	""
"0000168713"	"1"	"57"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00006"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37167046C>T"	""	"VUS"	""
"0000168714"	"2"	"57"	"5"	"37157484"	"37157484"	"subst"	"0"	"00006"	"C5orf42_000003"	"g.37157484C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"ENST00000509849:c.4690G>A; Pro2136Hisfs*31; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37157382C>T"	""	"VUS"	""
"0000168715"	"1"	"57"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00006"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37167046C>T"	""	"VUS"	""
"0000168716"	"2"	"57"	"5"	"37157484"	"37157484"	"subst"	"0"	"00006"	"C5orf42_000003"	"g.37157484C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"ENST00000509849:c.4690G>A; Pro2136Hisfs*31; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37157382C>T"	""	"VUS"	""
"0000168717"	"1"	"57"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00006"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37187488G>A"	""	"VUS"	""
"0000168718"	"2"	"57"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00006"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37167046C>T"	""	"VUS"	""
"0000168719"	"1"	"57"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00006"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37187488G>A"	""	"VUS"	""
"0000168720"	"2"	"57"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00006"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37167046C>T"	""	"VUS"	""
"0000168721"	"1"	"57"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00006"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37187488G>A"	""	"VUS"	""
"0000168722"	"2"	"57"	"5"	"37170200"	"37170200"	"del"	"0"	"00006"	"C5orf42_000004"	"g.37170200del"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37170098del"	""	"VUS"	""
"0000168723"	"1"	"57"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00006"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37187488G>A"	""	"VUS"	""
"0000168724"	"2"	"57"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00006"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37167046C>T"	""	"VUS"	""
"0000168725"	"1"	"57"	"5"	"37157484"	"37157484"	"subst"	"0"	"00006"	"C5orf42_000003"	"g.37157484C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"ENST00000509849:c.4690G>A; Pro2136Hisfs*31; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37157382C>T"	""	"VUS"	""
"0000168726"	"2"	"57"	"5"	"37165697"	"37165697"	"subst"	"5.76692E-5"	"00006"	"C5orf42_000005"	"g.37165697G>A"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37165595G>A"	""	"VUS"	""
"0000168727"	"1"	"57"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00006"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37187488G>A"	""	"VUS"	""
"0000168728"	"2"	"57"	"5"	"37183479"	"37183479"	"subst"	"4.08847E-6"	"00006"	"C5orf42_000006"	"g.37183479G>A"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37183377G>A"	""	"VUS"	""
"0000168729"	"1"	"57"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00006"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2012:22425360}"	""	""	"not found in 261 in-house control exomes; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37187488G>A"	""	"VUS"	""
"0000168730"	"2"	"57"	"5"	"37157484"	"37157484"	"subst"	"0"	"00006"	"C5orf42_000003"	"g.37157484C>T"	""	"{PMID:Srour 2012:22425360}"	""	""	"ENST00000509849:c.4690G>A; Pro2136Hisfs*31; not found in 954 control chromosomes"	"Germline"	"yes"	""	"0"	""	""	"g.37157382C>T"	""	"VUS"	""
"0000168731"	"3"	"90"	"5"	"37154075"	"37154075"	"subst"	"2.04586E-5"	"00010"	"C5orf42_000007"	"g.37154075G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37153973G>A"	""	"pathogenic"	""
"0000168732"	"3"	"90"	"5"	"37154064"	"37154065"	"del"	"0"	"00010"	"C5orf42_000008"	"g.37154064_37154065del"	""	"{PMID:Shaheen 2013:23169490}"	""	"7988_7989delGA"	""	"Germline"	""	""	"0"	""	""	"g.37153962_37153963del"	""	"likely pathogenic (recessive)"	""
"0000168733"	"11"	"90"	"5"	"37244554"	"37244554"	"del"	"0.000151322"	"01958"	"C5orf42_000024"	"g.37244554del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37244452del"	""	"pathogenic"	""
"0000168734"	"21"	"90"	"5"	"37183640"	"37183640"	"subst"	"4.06994E-6"	"01958"	"C5orf42_000025"	"g.37183640T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37183538T>C"	""	"pathogenic"	""
"0000168735"	"11"	"90"	"5"	"37180123"	"37180123"	"subst"	"1.47343E-5"	"01958"	"C5orf42_000027"	"g.37180123A>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37180021A>C"	""	"pathogenic"	""
"0000168736"	"21"	"90"	"5"	"37221548"	"37221548"	"subst"	"0"	"01958"	"C5orf42_000026"	"g.37221548G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37221446G>A"	""	"pathogenic"	""
"0000168737"	"11"	"90"	"5"	"37185058"	"37185058"	"del"	"0"	"01958"	"C5orf42_000028"	"g.37185058del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37184956del"	""	"pathogenic"	""
"0000168738"	"21"	"90"	"5"	"37182935"	"37182935"	"subst"	"1.22188E-5"	"01958"	"C5orf42_000029"	"g.37182935G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37182833G>T"	""	"pathogenic"	""
"0000168739"	"11"	"90"	"5"	"37185058"	"37185058"	"del"	"0"	"01958"	"C5orf42_000028"	"g.37185058del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37184956del"	""	"pathogenic"	""
"0000168740"	"21"	"90"	"5"	"37182935"	"37182935"	"subst"	"1.22188E-5"	"01958"	"C5orf42_000029"	"g.37182935G>T"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.37182833G>T"	""	"pathogenic"	""
"0000246303"	"0"	"10"	"5"	"37186443"	"37186443"	"subst"	"0.00142639"	"02330"	"C5orf42_000093"	"g.37186443A>G"	""	""	""	"CPLANE1(NM_023073.3):c.4134T>C (p.P1378=), CPLANE1(NM_023073.4):c.4134T>C (p.P1378=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37186341A>G"	""	"benign"	""
"0000246333"	"0"	"10"	"5"	"37168931"	"37168931"	"subst"	"2.44822E-5"	"02330"	"C5orf42_000057"	"g.37168931A>G"	""	""	""	"CPLANE1(NM_023073.4):c.7195T>C (p.L2399=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37168829A>G"	""	"benign"	""
"0000246334"	"0"	"10"	"5"	"37226795"	"37226795"	"subst"	"5.3118E-5"	"02330"	"C5orf42_000114"	"g.37226795A>C"	""	""	""	"CPLANE1(NM_023073.3):c.1902T>G (p.L634=), CPLANE1(NM_023073.4):c.1902T>G (p.L634=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37226693A>C"	""	"benign"	""
"0000246335"	"0"	"10"	"5"	"37227868"	"37227868"	"subst"	"0.000600462"	"02330"	"C5orf42_000122"	"g.37227868A>C"	""	""	""	"CPLANE1(NM_023073.3):c.1173T>G (p.A391=), CPLANE1(NM_023073.4):c.1173T>G (p.A391=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37227766A>C"	""	"benign"	""
"0000246368"	"0"	"10"	"5"	"37153827"	"37153827"	"subst"	"0"	"02330"	"C5orf42_000140"	"g.37153827A>C"	""	""	""	"CPLANE1(NM_023073.4):c.8211+15T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37153725A>C"	""	"benign"	""
"0000246380"	"0"	"30"	"5"	"37183080"	"37183080"	"subst"	"6.18195E-5"	"02330"	"C5orf42_000081"	"g.37183080A>C"	""	""	""	"CPLANE1(NM_023073.4):c.5203T>G (p.L1735V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37182978A>C"	""	"likely benign"	""
"0000246388"	"0"	"30"	"5"	"37162686"	"37162686"	"subst"	"4.11506E-5"	"02330"	"C5orf42_000055"	"g.37162686A>T"	""	""	""	"CPLANE1(NM_023073.4):c.7589-18T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37162584A>T"	""	"likely benign"	""
"0000246399"	"0"	"50"	"5"	"37180280"	"37180280"	"subst"	"0"	"02330"	"C5orf42_000076"	"g.37180280A>G"	""	""	""	"CPLANE1(NM_023073.4):c.5576T>C (p.M1859T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37180178A>G"	""	"VUS"	""
"0000247982"	"0"	"10"	"5"	"37173930"	"37173930"	"subst"	"0.133764"	"02325"	"C5orf42_000067"	"g.37173930A>C"	""	""	""	"C5orf42(NM_023073.3):c.6098T>G (p.F2033C), CPLANE1(NM_023073.4):c.6098T>G (p.F2033C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37173828A>C"	""	"benign"	""
"0000248018"	"0"	"10"	"5"	"37176091"	"37176091"	"subst"	"0.12368"	"02325"	"C5orf42_000070"	"g.37176091A>G"	""	""	""	"C5orf42(NM_023073.3):c.5901-3T>C, CPLANE1(NM_023073.4):c.5901-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37175989A>G"	""	"benign"	""
"0000249072"	"0"	"10"	"5"	"37139484"	"37139484"	"del"	"0"	"02325"	"C5orf42_000047"	"g.37139484del"	""	""	""	"C5orf42(NM_023073.3):c.8471-3del (p.?), C5orf42(NM_023073.3):c.8471-3delT, CPLANE1(NM_023073.4):c.8471-3delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37139382del"	""	"benign"	""
"0000251014"	"0"	"10"	"5"	"37195976"	"37195976"	"subst"	"0.0068496"	"02326"	"C5orf42_000097"	"g.37195976A>T"	""	""	""	"CPLANE1(NM_023073.3):c.3795T>A (p.V1265=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37195874A>T"	""	"benign"	""
"0000251352"	"0"	"10"	"5"	"37162449"	"37162449"	"subst"	"0"	"02326"	"C5orf42_000054"	"g.37162449A>G"	""	""	""	"CPLANE1(NM_023073.3):c.7690+118T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37162347A>G"	""	"benign"	""
"0000251353"	"0"	"10"	"5"	"37165888"	"37165888"	"subst"	"0"	"02326"	"C5orf42_000056"	"g.37165888A>G"	""	""	""	"CPLANE1(NM_023073.3):c.7401-115T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37165786A>G"	""	"benign"	""
"0000251354"	"0"	"10"	"5"	"37167395"	"37167395"	"del"	"0"	"02326"	"C5orf42_000147"	"g.37167395del"	""	""	""	"CPLANE1(NM_023073.3):c.7234-76delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37167293del"	""	"benign"	""
"0000251355"	"0"	"10"	"5"	"37244795"	"37244795"	"subst"	"0"	"02326"	"C5orf42_000135"	"g.37244795A>T"	""	""	""	"CPLANE1(NM_023073.3):c.338-86T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37244693A>T"	""	"benign"	""
"0000252545"	"0"	"90"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"02326"	"C5orf42_000022"	"g.37226913A>C"	""	""	""	"CPLANE1(NM_023073.3):c.1784T>G (p.L595*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37226811A>C"	""	"pathogenic"	""
"0000253243"	"0"	"10"	"5"	"37173930"	"37173930"	"subst"	"0.133764"	"01943"	"C5orf42_000067"	"g.37173930A>C"	""	""	""	"C5orf42(NM_023073.3):c.6098T>G (p.F2033C), CPLANE1(NM_023073.4):c.6098T>G (p.F2033C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37173828A>C"	""	"benign"	""
"0000253279"	"0"	"10"	"5"	"37176091"	"37176091"	"subst"	"0.12368"	"01943"	"C5orf42_000070"	"g.37176091A>G"	""	""	""	"C5orf42(NM_023073.3):c.5901-3T>C, CPLANE1(NM_023073.4):c.5901-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37175989A>G"	""	"benign"	""
"0000253789"	"0"	"10"	"5"	"37139484"	"37139484"	"del"	"0"	"01943"	"C5orf42_000046"	"g.37139484del"	""	""	""	"C5orf42(NM_023073.3):c.8471-3del (p.?), C5orf42(NM_023073.3):c.8471-3delT, CPLANE1(NM_023073.4):c.8471-3delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37139382del"	""	"benign"	""
"0000254133"	"0"	"30"	"5"	"37186443"	"37186443"	"subst"	"0.00142639"	"01943"	"C5orf42_000093"	"g.37186443A>G"	""	""	""	"CPLANE1(NM_023073.3):c.4134T>C (p.P1378=), CPLANE1(NM_023073.4):c.4134T>C (p.P1378=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37186341A>G"	""	"likely benign"	""
"0000256255"	"0"	"50"	"5"	"37227722"	"37227722"	"subst"	"1.97571E-5"	"01943"	"C5orf42_000118"	"g.37227722A>G"	""	""	""	"C5orf42(NM_023073.3):c.1319T>C (p.L440P), CPLANE1(NM_001384732.1):c.1319T>C (p.(Leu440Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37227620A>G"	""	"VUS"	""
"0000263865"	"0"	"30"	"5"	"37107686"	"37107686"	"subst"	"0.000817875"	"02330"	"C5orf42_000030"	"g.37107686C>A"	""	""	""	"CPLANE1(NM_023073.4):c.*18G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37107584C>A"	""	"likely benign"	""
"0000263866"	"0"	"50"	"5"	"37227759"	"37227759"	"subst"	"0"	"02330"	"C5orf42_000120"	"g.37227759T>C"	""	""	""	"CPLANE1(NM_023073.4):c.1282A>G (p.S428G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37227657T>C"	""	"VUS"	""
"0000263867"	"0"	"10"	"5"	"37226961"	"37226961"	"subst"	"0.00125898"	"02330"	"C5orf42_000116"	"g.37226961G>A"	""	""	""	"C5orf42(NM_023073.3):c.1736C>T (p.A579V), CPLANE1(NM_001384732.1):c.1736C>T (p.(Ala579Val)), CPLANE1(NM_023073.4):c.1736C>T (p.A579V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37226859G>A"	""	"benign"	""
"0000263869"	"0"	"50"	"5"	"37206510"	"37206510"	"subst"	"6.59161E-6"	"02330"	"C5orf42_000103"	"g.37206510T>G"	""	""	""	"CPLANE1(NM_023073.4):c.2938A>C (p.I980L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37206408T>G"	""	"VUS"	""
"0000263870"	"0"	"30"	"5"	"37186454"	"37186454"	"subst"	"1.21944E-5"	"02330"	"C5orf42_000094"	"g.37186454C>T"	""	""	""	"CPLANE1(NM_023073.4):c.4123G>A (p.V1375M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37186352C>T"	""	"likely benign"	""
"0000263871"	"0"	"50"	"5"	"37185109"	"37185109"	"subst"	"5.68727E-5"	"02330"	"C5orf42_000090"	"g.37185109C>T"	""	""	""	"CPLANE1(NM_023073.4):c.4262G>A (p.R1421H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37185007C>T"	""	"VUS"	""
"0000263873"	"0"	"30"	"5"	"37183585"	"37183585"	"subst"	"0.00462236"	"02330"	"C5orf42_000085"	"g.37183585T>C"	""	""	""	"CPLANE1(NM_023073.3):c.4698A>G (p.L1566=), CPLANE1(NM_023073.4):c.4698A>G (p.L1566=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37183483T>C"	""	"likely benign"	""
"0000263874"	"0"	"10"	"5"	"37183297"	"37183297"	"subst"	"0.00138692"	"02330"	"C5orf42_000083"	"g.37183297T>G"	""	""	""	"C5orf42(NM_023073.3):c.4986A>C (p.Q1662H), CPLANE1(NM_023073.4):c.4986A>C (p.Q1662H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37183195T>G"	""	"benign"	""
"0000263875"	"0"	"10"	"5"	"37182954"	"37182954"	"subst"	"0.001803"	"02330"	"C5orf42_000080"	"g.37182954C>T"	""	""	""	"C5orf42(NM_023073.3):c.5329G>A (p.V1777I, p.(Val1777Ile)), CPLANE1(NM_023073.3):c.5329G>A (p.V1777I), CPLANE1(NM_023073.4):c.5329G>A (p.V1777I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37182852C>T"	""	"benign"	""
"0000263876"	"0"	"10"	"5"	"37182862"	"37182862"	"subst"	"0.00707006"	"02330"	"C5orf42_000078"	"g.37182862C>T"	""	""	""	"C5orf42(NM_023073.3):c.5421G>A (p.K1807=, p.(=)), CPLANE1(NM_023073.3):c.5421G>A (p.K1807=), CPLANE1(NM_023073.4):c.5421G>A (p.K1807=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37182760C>T"	""	"benign"	""
"0000263877"	"0"	"10"	"5"	"37176096"	"37176096"	"subst"	"0"	"02330"	"C5orf42_000071"	"g.37176096T>C"	""	""	""	"CPLANE1(NM_023073.4):c.5901-8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37175994T>C"	""	"benign"	""
"0000263878"	"0"	"30"	"5"	"37173964"	"37173964"	"subst"	"2.84396E-5"	"02330"	"C5orf42_000068"	"g.37173964C>G"	""	""	""	"CPLANE1(NM_023073.4):c.6064G>C (p.A2022P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37173862C>G"	""	"likely benign"	""
"0000263879"	"0"	"90"	"5"	"37173913"	"37173914"	"del"	"0"	"02330"	"C5orf42_000015"	"g.37173913_37173914del"	""	""	""	"CPLANE1(NM_023073.4):c.6115_6116delGA (p.D2039Lfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37173811_37173812del"	""	"pathogenic"	""
"0000263880"	"0"	"10"	"5"	"37169266"	"37169266"	"subst"	"0.00147918"	"02330"	"C5orf42_000149"	"g.37169266C>T"	""	""	""	"CPLANE1(NM_023073.4):c.6860G>A (p.S2287N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37169164C>T"	""	"benign"	""
"0000263881"	"0"	"10"	"5"	"37169262"	"37169262"	"subst"	"0"	"02330"	"C5orf42_000061"	"g.37169262C>T"	""	""	""	"CPLANE1(NM_023073.4):c.6864G>A (p.Q2288=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37169160C>T"	""	"benign"	""
"0000263882"	"0"	"30"	"5"	"37169221"	"37169221"	"subst"	"0.00161691"	"02330"	"C5orf42_000060"	"g.37169221G>A"	""	""	""	"C5orf42(NM_023073.3):c.6905C>T (p.T2302M, p.(Thr2302Met)), CPLANE1(NM_023073.3):c.6905C>T (p.T2302M), CPLANE1(NM_023073.4):c.6905C>T (p.T2302M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37169119G>A"	""	"likely benign"	""
"0000263883"	"0"	"10"	"5"	"37169220"	"37169220"	"subst"	"3.24995E-5"	"02330"	"C5orf42_000059"	"g.37169220C>T"	""	""	""	"CPLANE1(NM_023073.4):c.6906G>A (p.T2302=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37169118C>T"	""	"benign"	""
"0000263884"	"0"	"10"	"5"	"37169169"	"37169169"	"subst"	"0.00764714"	"02330"	"C5orf42_000148"	"g.37169169T>C"	""	""	""	"CPLANE1(NM_023073.3):c.6957A>G (p.Q2319=), CPLANE1(NM_023073.4):c.6957A>G (p.Q2319=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37169067T>C"	""	"benign"	""
"0000263885"	"0"	"10"	"5"	"37167274"	"37167274"	"subst"	"0.000318056"	"02330"	"C5orf42_000146"	"g.37167274C>T"	""	""	""	"C5orf42(NM_023073.3):c.7275G>A (p.A2425=), CPLANE1(NM_023073.4):c.7275G>A (p.A2425=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37167172C>T"	""	"benign"	""
"0000263886"	"0"	"10"	"5"	"37157761"	"37157761"	"del"	"0"	"02330"	"C5orf42_000144"	"g.37157761del"	""	""	""	"CPLANE1(NM_023073.4):c.7957+12delC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37157659del"	""	"benign"	""
"0000263887"	"0"	"10"	"5"	"37153929"	"37153929"	"subst"	"0.00646923"	"02330"	"C5orf42_000142"	"g.37153929G>A"	""	""	""	"C5orf42(NM_023073.3):c.8124C>T (p.D2708=), CPLANE1(NM_023073.4):c.8124C>T (p.D2708=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37153827G>A"	""	"benign"	""
"0000263888"	"0"	"30"	"5"	"37148363"	"37148363"	"subst"	"0"	"02330"	"C5orf42_000049"	"g.37148363G>A"	""	""	""	"CPLANE1(NM_023073.4):c.8219C>T (p.P2740L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37148261G>A"	""	"likely benign"	""
"0000263889"	"0"	"10"	"5"	"37239800"	"37239800"	"subst"	"5.44534E-5"	"02330"	"C5orf42_000129"	"g.37239800C>T"	""	""	""	"CPLANE1(NM_023073.4):c.834+15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37239698C>T"	""	"benign"	""
"0000263890"	"0"	"10"	"5"	"37138816"	"37138816"	"subst"	"0"	"02330"	"C5orf42_000042"	"g.37138816G>A"	""	""	""	"CPLANE1(NM_023073.4):c.8630+6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37138714G>A"	""	"benign"	""
"0000263891"	"0"	"50"	"5"	"37125342"	"37125342"	"subst"	"0.00261401"	"02330"	"C5orf42_000038"	"g.37125342T>G"	""	""	""	"C5orf42(NM_023073.3):c.8796+4A>C, CPLANE1(NM_001384732.1):c.8958+4A>C, CPLANE1(NM_023073.3):c.8796+4A>C, CPLANE1(NM_023073.4):c.8796+4A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37125240T>G"	""	"VUS"	""
"0000263892"	"0"	"10"	"5"	"37120376"	"37120376"	"subst"	"8.08917E-5"	"02330"	"C5orf42_000037"	"g.37120376C>T"	""	""	""	"CPLANE1(NM_023073.4):c.9090G>A (p.P3030=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37120274C>T"	""	"benign"	""
"0000263893"	"0"	"30"	"5"	"37120312"	"37120312"	"subst"	"0"	"02330"	"C5orf42_000035"	"g.37120312T>A"	""	""	""	"CPLANE1(NM_023073.3):c.9148+6A>T, CPLANE1(NM_023073.4):c.9148+6A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37120210T>A"	""	"likely benign"	""
"0000263894"	"0"	"50"	"5"	"37238981"	"37238981"	"subst"	"0"	"02330"	"C5orf42_000128"	"g.37238981C>T"	""	""	""	"CPLANE1(NM_023073.4):c.916G>A (p.V306M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37238879C>T"	""	"VUS"	""
"0000263895"	"0"	"50"	"5"	"37108520"	"37108520"	"subst"	"0.000861382"	"02330"	"C5orf42_000033"	"g.37108520C>T"	""	""	""	"C5orf42(NM_023073.3):c.9292G>A (p.G3098R), CPLANE1(NM_001384732.1):c.9454G>A (p.(Gly3152Arg)), CPLANE1(NM_023073.4):c.9292G>A (p.G3098R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37108418C>T"	""	"VUS"	""
"0000266372"	"0"	"10"	"5"	"37182902"	"37182902"	"subst"	"0.111257"	"02325"	"C5orf42_000079"	"g.37182902G>A"	""	""	""	"C5orf42(NM_023073.3):c.5381C>T (p.P1794L), CPLANE1(NM_023073.4):c.5381C>T (p.P1794L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37182800G>A"	""	"benign"	""
"0000266373"	"0"	"10"	"5"	"37247700"	"37247700"	"subst"	"0.999781"	"02325"	"C5orf42_000137"	"g.37247700G>A"	""	""	""	"C5orf42(NM_023073.3):c.81+20C>T, CPLANE1(NM_023073.4):c.81+20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37247598="	""	"benign"	""
"0000266374"	"0"	"30"	"5"	"37138936"	"37138936"	"subst"	"0.000434496"	"02325"	"C5orf42_000045"	"g.37138936G>A"	""	""	""	"CPLANE1(NM_023073.4):c.8516C>T (p.P2839L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37138834G>A"	""	"likely benign"	""
"0000269443"	"0"	"10"	"5"	"37224926"	"37224926"	"del"	"0"	"02326"	"C5orf42_000112"	"g.37224926del"	""	""	""	"CPLANE1(NM_023073.3):c.2292-74delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37224824del"	""	"benign"	""
"0000269444"	"0"	"10"	"5"	"37212596"	"37212597"	"del"	"0"	"02326"	"C5orf42_000109"	"g.37212596_37212597del"	""	""	""	"CPLANE1(NM_023073.3):c.2920+1064_2920+1065delGG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37212494_37212495del"	""	"benign"	""
"0000269446"	"0"	"10"	"5"	"37211816"	"37211816"	"subst"	"0"	"02326"	"C5orf42_000107"	"g.37211816C>T"	""	""	""	"CPLANE1(NM_023073.3):c.2920+1845G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37211714C>T"	""	"benign"	""
"0000269447"	"0"	"10"	"5"	"37211526"	"37211526"	"subst"	"0"	"02326"	"C5orf42_000106"	"g.37211526G>A"	""	""	""	"CPLANE1(NM_023073.3):c.2920+2135C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37211424G>A"	""	"benign"	""
"0000269448"	"0"	"10"	"5"	"37210343"	"37210343"	"subst"	"0"	"02326"	"C5orf42_000105"	"g.37210343T>C"	""	""	""	"CPLANE1(NM_023073.3):c.2920+3318A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37210241T>C"	""	"benign"	""
"0000269449"	"0"	"10"	"5"	"37209540"	"37209540"	"subst"	"0"	"02326"	"C5orf42_000104"	"g.37209540G>A"	""	""	""	"CPLANE1(NM_023073.3):c.2921-3013C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37209438G>A"	""	"benign"	""
"0000269451"	"0"	"10"	"5"	"37196028"	"37196028"	"subst"	"0.0304482"	"02326"	"C5orf42_000098"	"g.37196028C>T"	""	""	""	"C5orf42(NM_023073.3):c.3743G>A (p.G1248D), CPLANE1(NM_023073.3):c.3743G>A (p.G1248D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37195926C>T"	""	"benign"	""
"0000269452"	"0"	"70"	"5"	"37187598"	"37187598"	"subst"	"0"	"02326"	"C5orf42_000096"	"g.37187598G>A"	""	""	""	"CPLANE1(NM_023073.3):c.3998C>T (p.P1333L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37187496G>A"	""	"likely pathogenic"	""
"0000269453"	"0"	"10"	"5"	"37185192"	"37185193"	"del"	"0"	"02326"	"C5orf42_000092"	"g.37185192_37185193del"	""	""	""	"CPLANE1(NM_023073.3):c.4190-10_4190-9delTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37185090_37185091del"	""	"benign"	""
"0000269454"	"0"	"10"	"5"	"37182969"	"37182969"	"subst"	"0.00696799"	"02326"	"C5orf42_000011"	"g.37182969T>C"	""	""	""	"CPLANE1(NM_023073.3):c.5314A>G (p.S1772G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37182867T>C"	""	"benign"	""
"0000269455"	"0"	"90"	"5"	"37182935"	"37182935"	"subst"	"1.22188E-5"	"02326"	"C5orf42_000029"	"g.37182935G>T"	""	""	""	"CPLANE1(NM_023073.3):c.5348C>A (p.A1783D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37182833G>T"	""	"pathogenic"	""
"0000269456"	"0"	"10"	"5"	"37182862"	"37182862"	"subst"	"0.00707006"	"02326"	"C5orf42_000078"	"g.37182862C>T"	""	""	""	"C5orf42(NM_023073.3):c.5421G>A (p.K1807=, p.(=)), CPLANE1(NM_023073.3):c.5421G>A (p.K1807=), CPLANE1(NM_023073.4):c.5421G>A (p.K1807=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37182760C>T"	""	"benign"	""
"0000269457"	"0"	"10"	"5"	"37181017"	"37181017"	"subst"	"0.00728311"	"02326"	"C5orf42_000077"	"g.37181017T>C"	""	""	""	"CPLANE1(NM_023073.3):c.5512A>G (p.T1838A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37180915T>C"	""	"benign"	""
"0000269458"	"0"	"10"	"5"	"37177716"	"37177716"	"subst"	"0.00733824"	"02326"	"C5orf42_000072"	"g.37177716C>A"	""	""	""	"CPLANE1(NM_023073.3):c.5900+7G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37177614C>A"	""	"benign"	""
"0000269459"	"0"	"10"	"5"	"37162510"	"37162510"	"subst"	"0"	"02326"	"C5orf42_000145"	"g.37162510G>C"	""	""	""	"CPLANE1(NM_023073.3):c.7690+57C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37162408G>C"	""	"benign"	""
"0000269460"	"0"	"10"	"5"	"37158363"	"37158363"	"subst"	"0.00529249"	"02326"	"C5orf42_000053"	"g.37158363G>A"	""	""	""	"CPLANE1(NM_023073.3):c.7775C>T (p.P2592L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37158261G>A"	""	"benign"	""
"0000269461"	"0"	"10"	"5"	"37157624"	"37157624"	"subst"	"0"	"02326"	"C5orf42_000052"	"g.37157624G>A"	""	""	""	"CPLANE1(NM_023073.3):c.7957+148C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37157522G>A"	""	"benign"	""
"0000269462"	"0"	"10"	"5"	"37154074"	"37154074"	"subst"	"4.08741E-6"	"02326"	"C5orf42_000143"	"g.37154074C>T"	""	""	""	"C5ORF42(NM_023073.3):c.7979G>A (p.(Arg2660Gln)), CPLANE1(NM_023073.3):c.7979G>A (p.R2660Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37153972C>T"	""	"benign"	""
"0000269463"	"0"	"10"	"5"	"37153871"	"37153871"	"subst"	"0.00665631"	"02326"	"C5orf42_000141"	"g.37153871G>T"	""	""	""	"C5orf42(NM_023073.3):c.8182C>A (p.P2728T, p.(Pro2728Thr)), CPLANE1(NM_023073.3):c.8182C>A (p.P2728T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37153769G>T"	""	"benign"	""
"0000269464"	"0"	"10"	"5"	"37139516"	"37139516"	"del"	"0"	"02326"	"C5orf42_000048"	"g.37139516del"	""	""	""	"CPLANE1(NM_023073.3):c.8471-36delA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37139414del"	""	"benign"	""
"0000269465"	"0"	"10"	"5"	"37115116"	"37115116"	"subst"	"0.00521458"	"02326"	"C5orf42_000034"	"g.37115116C>T"	""	""	""	"CPLANE1(NM_023073.3):c.9184G>A (p.G3062R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37115014C>T"	""	"benign"	""
"0000272315"	"0"	"50"	"5"	"37227918"	"37227918"	"subst"	"0.000195499"	"01943"	"C5orf42_000124"	"g.37227918G>A"	""	""	""	"C5orf42(NM_023073.3):c.1123C>T (p.P375S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37227816G>A"	""	"VUS"	""
"0000272316"	"0"	"10"	"5"	"37227905"	"37227905"	"subst"	"0.00176525"	"01943"	"C5orf42_000123"	"g.37227905G>A"	""	""	""	"C5orf42(NM_023073.3):c.1136C>T (p.T379M), CPLANE1(NM_023073.4):c.1136C>T (p.T379M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37227803G>A"	""	"benign"	""
"0000272317"	"0"	"50"	"5"	"37227819"	"37227819"	"subst"	"0.000158525"	"01943"	"C5orf42_000121"	"g.37227819G>A"	""	""	""	"C5orf42(NM_023073.3):c.1222C>T (p.R408W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37227717G>A"	""	"VUS"	""
"0000272318"	"0"	"50"	"5"	"37227729"	"37227729"	"subst"	"3.29442E-5"	"01943"	"C5orf42_000119"	"g.37227729G>A"	""	""	""	"C5orf42(NM_023073.3):c.1312C>T (p.L438F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37227627G>A"	""	"VUS"	""
"0000272319"	"0"	"10"	"5"	"37226961"	"37226961"	"subst"	"0.00125898"	"01943"	"C5orf42_000116"	"g.37226961G>A"	""	""	""	"C5orf42(NM_023073.3):c.1736C>T (p.A579V), CPLANE1(NM_001384732.1):c.1736C>T (p.(Ala579Val)), CPLANE1(NM_023073.4):c.1736C>T (p.A579V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37226859G>A"	""	"benign"	""
"0000272320"	"0"	"30"	"5"	"37226814"	"37226814"	"subst"	"0.00255805"	"01943"	"C5orf42_000115"	"g.37226814C>T"	""	""	""	"C5orf42(NM_023073.3):c.1883G>A (p.R628K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37226712C>T"	""	"likely benign"	""
"0000272321"	"0"	"50"	"5"	"37213726"	"37213726"	"subst"	"0.000112837"	"01943"	"C5orf42_000110"	"g.37213726T>C"	""	""	""	"C5orf42(NM_023073.3):c.2855A>G (p.N952S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37213624T>C"	""	"VUS"	""
"0000272322"	"0"	"30"	"5"	"37245582"	"37245582"	"subst"	"3.05823E-5"	"01943"	"C5orf42_000136"	"g.37245582G>A"	""	""	""	"C5orf42(NM_023073.3):c.336C>T (p.V112=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37245480G>A"	""	"likely benign"	""
"0000272323"	"0"	"30"	"5"	"37201753"	"37201753"	"subst"	"0.000170563"	"01943"	"C5orf42_000101"	"g.37201753T>C"	""	""	""	"C5orf42(NM_023073.3):c.3447A>G (p.P1149=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37201651T>C"	""	"likely benign"	""
"0000272324"	"0"	"30"	"5"	"37196028"	"37196028"	"subst"	"0.0304482"	"01943"	"C5orf42_000098"	"g.37196028C>T"	""	""	""	"C5orf42(NM_023073.3):c.3743G>A (p.G1248D), CPLANE1(NM_023073.3):c.3743G>A (p.G1248D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37195926C>T"	""	"likely benign"	""
"0000272325"	"0"	"30"	"5"	"37187522"	"37187522"	"subst"	"0.000237417"	"01943"	"C5orf42_000095"	"g.37187522G>A"	""	""	""	"C5orf42(NM_023073.3):c.4074C>T (p.I1358=), CPLANE1(NM_023073.3):c.4074C>T (p.I1358=), CPLANE1(NM_023073.4):c.4074C>T (p.I1358=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37187420G>A"	""	"likely benign"	""
"0000272326"	"0"	"30"	"5"	"37185049"	"37185049"	"subst"	"5.27962E-5"	"01943"	"C5orf42_000088"	"g.37185049T>C"	""	""	""	"C5orf42(NM_023073.3):c.4322A>G (p.K1441R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37184947T>C"	""	"likely benign"	""
"0000272327"	"0"	"30"	"5"	"37183585"	"37183585"	"subst"	"0.00462236"	"01943"	"C5orf42_000085"	"g.37183585T>C"	""	""	""	"CPLANE1(NM_023073.3):c.4698A>G (p.L1566=), CPLANE1(NM_023073.4):c.4698A>G (p.L1566=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37183483T>C"	""	"likely benign"	""
"0000272328"	"0"	"50"	"5"	"37244573"	"37244573"	"subst"	"6.55746E-6"	"01943"	"C5orf42_000134"	"g.37244573C>T"	""	""	""	"CPLANE1(NM_023073.3):c.474G>A (p.A158=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37244471C>T"	""	"VUS"	""
"0000272329"	"0"	"50"	"5"	"37244569"	"37244569"	"subst"	"3.29363E-5"	"01943"	"C5orf42_000133"	"g.37244569G>A"	""	""	""	"C5orf42(NM_023073.3):c.478C>T (p.R160W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37244467G>A"	""	"VUS"	""
"0000272330"	"0"	"50"	"5"	"37183490"	"37183490"	"subst"	"0.00150854"	"01943"	"C5orf42_000084"	"g.37183490G>T"	""	""	""	"C5orf42(NM_023073.3):c.4793C>A (p.T1598K, p.(Thr1598Lys)), CPLANE1(NM_023073.3):c.4793C>A (p.T1598K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37183388G>T"	""	"VUS"	""
"0000272331"	"0"	"30"	"5"	"37183297"	"37183297"	"subst"	"0.00138692"	"01943"	"C5orf42_000083"	"g.37183297T>G"	""	""	""	"C5orf42(NM_023073.3):c.4986A>C (p.Q1662H), CPLANE1(NM_023073.4):c.4986A>C (p.Q1662H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37183195T>G"	""	"likely benign"	""
"0000272332"	"0"	"30"	"5"	"37244522"	"37244522"	"subst"	"9.25387E-5"	"01943"	"C5orf42_000132"	"g.37244522G>A"	""	""	""	"C5orf42(NM_023073.3):c.525C>T (p.T175=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37244420G>A"	""	"likely benign"	""
"0000272333"	"0"	"10"	"5"	"37182902"	"37182902"	"subst"	"0.111257"	"01943"	"C5orf42_000079"	"g.37182902G>A"	""	""	""	"C5orf42(NM_023073.3):c.5381C>T (p.P1794L), CPLANE1(NM_023073.4):c.5381C>T (p.P1794L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37182800G>A"	""	"benign"	""
"0000272334"	"0"	"50"	"5"	"37180263"	"37180263"	"subst"	"0.000110223"	"01943"	"C5orf42_000075"	"g.37180263T>G"	""	""	""	"C5orf42(NM_023073.3):c.5593A>C (p.N1865H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37180161T>G"	""	"VUS"	""
"0000272335"	"0"	"30"	"5"	"37179551"	"37179551"	"subst"	"0.000478304"	"01943"	"C5orf42_000073"	"g.37179551G>A"	""	""	""	"C5orf42(NM_023073.3):c.5738-6C>T, CPLANE1(NM_023073.4):c.5738-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37179449G>A"	""	"likely benign"	""
"0000272336"	"0"	"50"	"5"	"37176047"	"37176047"	"subst"	"0"	"01943"	"C5orf42_000069"	"g.37176047T>A"	""	""	""	"C5orf42(NM_023073.3):c.5942A>T (p.Q1981L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37175945T>A"	""	"VUS"	""
"0000272337"	"0"	"50"	"5"	"37170341"	"37170341"	"subst"	"4.06237E-6"	"01943"	"C5orf42_000065"	"g.37170341C>G"	""	""	""	"C5orf42(NM_023073.3):c.6264G>C (p.Q2088H, p.(Gln2088His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37170239C>G"	""	"VUS"	""
"0000272338"	"0"	"10"	"5"	"37170178"	"37170178"	"subst"	"0.0113015"	"01943"	"C5orf42_000063"	"g.37170178T>C"	""	""	""	"C5orf42(NM_023073.3):c.6427A>G (p.I2143V, p.(Ile2143Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37170076T>C"	""	"benign"	""
"0000272339"	"0"	"30"	"5"	"37169418"	"37169418"	"subst"	"0"	"01943"	"C5orf42_000150"	"g.37169418G>A"	""	""	""	"C5orf42(NM_023073.3):c.6708C>T (p.F2236=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37169316G>A"	""	"likely benign"	""
"0000272340"	"0"	"50"	"5"	"37169322"	"37169322"	"subst"	"0"	"01943"	"C5orf42_000062"	"g.37169322T>C"	""	""	""	"CPLANE1(NM_023073.3):c.6804A>G (p.Q2268=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37169220T>C"	""	"VUS"	""
"0000272341"	"0"	"30"	"5"	"37169169"	"37169169"	"subst"	"0.00764714"	"01943"	"C5orf42_000148"	"g.37169169T>C"	""	""	""	"CPLANE1(NM_023073.3):c.6957A>G (p.Q2319=), CPLANE1(NM_023073.4):c.6957A>G (p.Q2319=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37169067T>C"	""	"likely benign"	""
"0000272342"	"0"	"30"	"5"	"37154011"	"37154011"	"subst"	"0"	"01943"	"C5orf42_000051"	"g.37154011T>A"	""	""	""	"C5orf42(NM_023073.3):c.8042A>T (p.Q2681L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37153909T>A"	""	"likely benign"	""
"0000272343"	"0"	"10"	"5"	"37247700"	"37247700"	"subst"	"0.999781"	"01943"	"C5orf42_000137"	"g.37247700G>A"	""	""	""	"C5orf42(NM_023073.3):c.81+20C>T, CPLANE1(NM_023073.4):c.81+20C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37247598="	""	"benign"	""
"0000272344"	"0"	"10"	"5"	"37153929"	"37153929"	"subst"	"0.00646923"	"01943"	"C5orf42_000142"	"g.37153929G>A"	""	""	""	"C5orf42(NM_023073.3):c.8124C>T (p.D2708=), CPLANE1(NM_023073.4):c.8124C>T (p.D2708=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37153827G>A"	""	"benign"	""
"0000272345"	"0"	"30"	"5"	"37153871"	"37153871"	"subst"	"0.00665631"	"01943"	"C5orf42_000141"	"g.37153871G>T"	""	""	""	"C5orf42(NM_023073.3):c.8182C>A (p.P2728T, p.(Pro2728Thr)), CPLANE1(NM_023073.3):c.8182C>A (p.P2728T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37153769G>T"	""	"likely benign"	""
"0000272346"	"0"	"50"	"5"	"37142583"	"37142583"	"subst"	"0.000382632"	"01943"	"C5orf42_000020"	"g.37142583C>G"	""	""	""	"C5orf42(NM_023073.3):c.8300-1G>C, CPLANE1(NM_001384732.1):c.8462-1G>C, CPLANE1(NM_023073.3):c.8300-1G>C, CPLANE1(NM_023073.4):c.8300-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37142481C>G"	""	"VUS"	""
"0000272348"	"0"	"30"	"5"	"37125464"	"37125464"	"subst"	"2.44123E-5"	"01943"	"C5orf42_000040"	"g.37125464C>T"	""	""	""	"C5orf42(NM_023073.3):c.8678G>A (p.R2893K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37125362C>T"	""	"likely benign"	""
"0000272349"	"0"	"30"	"5"	"37125346"	"37125346"	"subst"	"0.000131431"	"01943"	"C5orf42_000039"	"g.37125346T>C"	""	""	""	"C5orf42(NM_023073.3):c.8796A>G (p.P2932=), CPLANE1(NM_023073.3):c.8796A>G (p.P2932=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37125244T>C"	""	"likely benign"	""
"0000272350"	"0"	"30"	"5"	"37107791"	"37107791"	"subst"	"8.29421E-6"	"01943"	"C5orf42_000031"	"g.37107791G>A"	""	""	""	"C5orf42(NM_023073.3):c.9507C>T (p.L3169=), CPLANE1(NM_023073.3):c.9507C>T (p.L3169=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37107689G>A"	""	"likely benign"	""
"0000272351"	"0"	"50"	"5"	"37231122"	"37231122"	"subst"	"2.70845E-5"	"01943"	"C5orf42_000126"	"g.37231122G>A"	""	""	""	"C5orf42(NM_023073.3):c.968C>T (p.T323M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37231020G>A"	""	"VUS"	""
"0000330322"	"0"	"50"	"5"	"37125474"	"37125474"	"subst"	"4.07335E-5"	"01804"	"C5orf42_000041"	"g.37125474C>G"	""	""	""	"C5ORF42(NM_023073.3):c.8668G>C (p.(Asp2890His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37125372C>G"	""	"VUS"	""
"0000330324"	"0"	"30"	"5"	"37153871"	"37153871"	"subst"	"0.00665631"	"01804"	"C5orf42_000141"	"g.37153871G>T"	""	""	""	"C5orf42(NM_023073.3):c.8182C>A (p.P2728T, p.(Pro2728Thr)), CPLANE1(NM_023073.3):c.8182C>A (p.P2728T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37153769G>T"	""	"likely benign"	""
"0000330326"	"0"	"50"	"5"	"37158402"	"37158402"	"subst"	"2.03141E-5"	"01804"	"C5orf42_000168"	"g.37158402T>C"	""	""	""	"C5orf42(NM_023073.3):c.7736A>G (p.(Tyr2579Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37158300T>C"	""	"VUS"	""
"0000330329"	"0"	"50"	"5"	"37170341"	"37170341"	"subst"	"4.06237E-6"	"01804"	"C5orf42_000065"	"g.37170341C>G"	""	""	""	"C5orf42(NM_023073.3):c.6264G>C (p.Q2088H, p.(Gln2088His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37170239C>G"	""	"VUS"	""
"0000330330"	"0"	"50"	"5"	"37173898"	"37173898"	"subst"	"2.84347E-5"	"01804"	"C5orf42_000066"	"g.37173898C>T"	""	""	""	"C5orf42(NM_023073.3):c.6130G>A (p.(Val2044Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37173796C>T"	""	"VUS"	""
"0000330332"	"0"	"30"	"5"	"37182954"	"37182954"	"subst"	"0.001803"	"01804"	"C5orf42_000080"	"g.37182954C>T"	""	""	""	"C5orf42(NM_023073.3):c.5329G>A (p.V1777I, p.(Val1777Ile)), CPLANE1(NM_023073.3):c.5329G>A (p.V1777I), CPLANE1(NM_023073.4):c.5329G>A (p.V1777I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37182852C>T"	""	"likely benign"	""
"0000330334"	"0"	"50"	"5"	"37183490"	"37183490"	"subst"	"0.00150854"	"01804"	"C5orf42_000084"	"g.37183490G>T"	""	""	""	"C5orf42(NM_023073.3):c.4793C>A (p.T1598K, p.(Thr1598Lys)), CPLANE1(NM_023073.3):c.4793C>A (p.T1598K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37183388G>T"	""	"VUS"	""
"0000330339"	"0"	"50"	"5"	"37206317"	"37206317"	"subst"	"6.57281E-5"	"01804"	"C5orf42_000102"	"g.37206317C>T"	""	""	""	"C5orf42(NM_023073.3):c.3131G>A (p.(Arg1044His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37206215C>T"	""	"VUS"	""
"0000330341"	"0"	"50"	"5"	"37213811"	"37213811"	"subst"	"7.11399E-6"	"01804"	"C5orf42_000111"	"g.37213811A>T"	""	""	""	"C5orf42(NM_023073.3):c.2770T>A (p.(Cys924Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37213709A>T"	""	"VUS"	""
"0000330342"	"0"	"30"	"5"	"37227410"	"37227410"	"subst"	"5.8802E-5"	"01804"	"C5orf42_000117"	"g.37227410C>T"	""	""	""	"C5orf42(NM_023073.3):c.1456G>A (p.D486N, p.(Asp486Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37227308C>T"	""	"likely benign"	""
"0000330346"	"0"	"50"	"5"	"37243166"	"37243166"	"subst"	"0.000214762"	"01804"	"C5orf42_000131"	"g.37243166T>C"	""	""	""	"C5orf42(NM_023073.3):c.626A>G (p.(Lys209Arg)), CPLANE1(NM_023073.3):c.626A>G (p.K209R), CPLANE1(NM_023073.4):c.626A>G (p.K209R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37243064T>C"	""	"VUS"	""
"0000347609"	"0"	"50"	"5"	"37226858"	"37226858"	"subst"	"5.53335E-5"	"02327"	"C5orf42_000139"	"g.37226858T>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.37226756T>G"	""	"VUS"	""
"0000480535"	"0"	"70"	"5"	"37108485"	"37108485"	"subst"	"0"	"03278"	"C5orf42_000151"	"g.37108485C>G"	""	"{PMID:Cox 2019:31215115}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37108383C>G"	""	"VUS"	""
"0000525599"	"0"	"50"	"5"	"37108520"	"37108520"	"subst"	"0.000861382"	"01943"	"C5orf42_000033"	"g.37108520C>T"	""	""	""	"C5orf42(NM_023073.3):c.9292G>A (p.G3098R), CPLANE1(NM_001384732.1):c.9454G>A (p.(Gly3152Arg)), CPLANE1(NM_023073.4):c.9292G>A (p.G3098R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37108418C>T"	""	"VUS"	""
"0000525600"	"0"	"50"	"5"	"37108520"	"37108520"	"subst"	"0.000861382"	"01804"	"C5orf42_000033"	"g.37108520C>T"	""	""	""	"C5orf42(NM_023073.3):c.9292G>A (p.G3098R), CPLANE1(NM_001384732.1):c.9454G>A (p.(Gly3152Arg)), CPLANE1(NM_023073.4):c.9292G>A (p.G3098R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37108418C>T"	""	"VUS"	""
"0000525601"	"0"	"30"	"5"	"37108560"	"37108560"	"subst"	"9.36856E-5"	"01943"	"C5orf42_000153"	"g.37108560C>T"	""	""	""	"C5orf42(NM_023073.3):c.9252G>A (p.P3084=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37108458C>T"	""	"likely benign"	""
"0000525603"	"0"	"10"	"5"	"37120355"	"37120355"	"subst"	"0"	"02330"	"C5orf42_000154"	"g.37120355C>T"	""	""	""	"CPLANE1(NM_023073.4):c.9111G>A (p.K3037=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37120253C>T"	""	"benign"	""
"0000525604"	"0"	"30"	"5"	"37120365"	"37120365"	"subst"	"9.31517E-5"	"01943"	"C5orf42_000036"	"g.37120365T>C"	""	""	""	"C5orf42(NM_023073.3):c.9101A>G (p.H3034R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37120263T>C"	""	"likely benign"	""
"0000525605"	"0"	"90"	"5"	"37120408"	"37120408"	"subst"	"3.56637E-5"	"01943"	"C5orf42_000155"	"g.37120408G>A"	""	""	""	"C5orf42(NM_023073.3):c.9058C>T (p.R3020*), CPLANE1(NM_023073.4):c.9058C>T (p.R3020*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37120306G>A"	""	"pathogenic"	""
"0000525606"	"0"	"90"	"5"	"37120408"	"37120408"	"subst"	"3.56637E-5"	"02325"	"C5orf42_000155"	"g.37120408G>A"	""	""	""	"C5orf42(NM_023073.3):c.9058C>T (p.R3020*), CPLANE1(NM_023073.4):c.9058C>T (p.R3020*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37120306G>A"	""	"pathogenic"	""
"0000525607"	"0"	"30"	"5"	"37121791"	"37121791"	"subst"	"1.62437E-5"	"01804"	"C5orf42_000156"	"g.37121791G>T"	""	""	""	"C5orf42(NM_023073.3):c.8951C>A (p.(Pro2984Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37121689G>T"	""	"likely benign"	""
"0000525609"	"0"	"50"	"5"	"37121811"	"37121811"	"subst"	"0.00165692"	"02330"	"C5orf42_000158"	"g.37121811T>C"	""	""	""	"C5orf42(NM_023073.3):c.8931A>G (p.S2977=), CPLANE1(NM_023073.3):c.8931A>G (p.S2977=), CPLANE1(NM_023073.4):c.8931A>G (p.S2977=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37121709T>C"	""	"VUS"	""
"0000525610"	"0"	"30"	"5"	"37121811"	"37121811"	"subst"	"0.00165692"	"01943"	"C5orf42_000158"	"g.37121811T>C"	""	""	""	"C5orf42(NM_023073.3):c.8931A>G (p.S2977=), CPLANE1(NM_023073.3):c.8931A>G (p.S2977=), CPLANE1(NM_023073.4):c.8931A>G (p.S2977=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37121709T>C"	""	"likely benign"	""
"0000525611"	"0"	"30"	"5"	"37121841"	"37121841"	"subst"	"0.000154357"	"01943"	"C5orf42_000159"	"g.37121841G>A"	""	""	""	"C5orf42(NM_023073.3):c.8901C>T (p.Y2967=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37121739G>A"	""	"likely benign"	""
"0000525612"	"0"	"30"	"5"	"37125342"	"37125342"	"subst"	"0.00261401"	"01943"	"C5orf42_000038"	"g.37125342T>G"	""	""	""	"C5orf42(NM_023073.3):c.8796+4A>C, CPLANE1(NM_001384732.1):c.8958+4A>C, CPLANE1(NM_023073.3):c.8796+4A>C, CPLANE1(NM_023073.4):c.8796+4A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37125240T>G"	""	"likely benign"	""
"0000525613"	"0"	"50"	"5"	"37125396"	"37125396"	"subst"	"0.000235633"	"01804"	"C5orf42_000160"	"g.37125396C>T"	""	""	""	"C5orf42(NM_023073.3):c.8746G>A (p.(Ala2916Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37125294C>T"	""	"VUS"	""
"0000525614"	"0"	"50"	"5"	"37125419"	"37125419"	"subst"	"4.06197E-5"	"02330"	"C5orf42_000161"	"g.37125419A>G"	""	""	""	"CPLANE1(NM_023073.4):c.8723T>C (p.M2908T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37125317A>G"	""	"VUS"	""
"0000525616"	"0"	"50"	"5"	"37125476"	"37125476"	"subst"	"1.22362E-5"	"01943"	"C5orf42_000162"	"g.37125476G>A"	""	""	""	"C5orf42(NM_023073.3):c.8666C>T (p.T2889I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37125374G>A"	""	"VUS"	""
"0000525617"	"0"	"30"	"5"	"37138824"	"37138824"	"subst"	"0.00202072"	"01943"	"C5orf42_000163"	"g.37138824G>A"	""	""	""	"C5orf42(NM_023073.3):c.8628C>T (p.S2876=), CPLANE1(NM_023073.3):c.8628C>T (p.S2876=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37138722G>A"	""	"likely benign"	""
"0000525618"	"0"	"30"	"5"	"37139484"	"37139484"	"del"	"0"	"01804"	"C5orf42_000046"	"g.37139484del"	""	""	""	"C5orf42(NM_023073.3):c.8471-3del (p.?), C5orf42(NM_023073.3):c.8471-3delT, CPLANE1(NM_023073.4):c.8471-3delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37139382del"	""	"likely benign"	""
"0000525619"	"0"	"50"	"5"	"37142583"	"37142583"	"subst"	"0.000382632"	"02330"	"C5orf42_000020"	"g.37142583C>G"	""	""	""	"C5orf42(NM_023073.3):c.8300-1G>C, CPLANE1(NM_001384732.1):c.8462-1G>C, CPLANE1(NM_023073.3):c.8300-1G>C, CPLANE1(NM_023073.4):c.8300-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37142481C>G"	""	"VUS"	""
"0000525620"	"0"	"50"	"5"	"37142583"	"37142583"	"subst"	"0.000382632"	"01804"	"C5orf42_000020"	"g.37142583C>G"	""	""	""	"C5orf42(NM_023073.3):c.8300-1G>C, CPLANE1(NM_001384732.1):c.8462-1G>C, CPLANE1(NM_023073.3):c.8300-1G>C, CPLANE1(NM_023073.4):c.8300-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37142481C>G"	""	"VUS"	""
"0000525621"	"0"	"30"	"5"	"37148355"	"37148355"	"subst"	"0"	"01943"	"C5orf42_000164"	"g.37148355G>A"	""	""	""	"C5orf42(NM_023073.3):c.8227C>T (p.H2743Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37148253G>A"	""	"likely benign"	""
"0000525622"	"0"	"30"	"5"	"37154074"	"37154074"	"subst"	"4.08741E-6"	"01804"	"C5orf42_000143"	"g.37154074C>T"	""	""	""	"C5ORF42(NM_023073.3):c.7979G>A (p.(Arg2660Gln)), CPLANE1(NM_023073.3):c.7979G>A (p.R2660Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37153972C>T"	""	"likely benign"	""
"0000525623"	"0"	"30"	"5"	"37157862"	"37157862"	"subst"	"1.62489E-5"	"01943"	"C5orf42_000165"	"g.37157862C>T"	""	""	""	"C5orf42(NM_023073.3):c.7867G>A (p.D2623N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37157760C>T"	""	"likely benign"	""
"0000525626"	"0"	"50"	"5"	"37158390"	"37158390"	"subst"	"4.06194E-6"	"01943"	"C5orf42_000167"	"g.37158390T>A"	""	""	""	"C5orf42(NM_023073.3):c.7748A>T (p.K2583M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37158288T>A"	""	"VUS"	""
"0000525628"	"0"	"50"	"5"	"37162641"	"37162641"	"subst"	"0.000183086"	"02325"	"C5orf42_000169"	"g.37162641G>A"	""	""	""	"CPLANE1(NM_023073.3):c.7616C>T (p.A2539V), CPLANE1(NM_023073.4):c.7616C>T (p.A2539V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37162539G>A"	""	"VUS"	""
"0000525629"	"0"	"50"	"5"	"37164370"	"37164370"	"subst"	"4.06497E-6"	"02330"	"C5orf42_000170"	"g.37164370C>T"	""	""	""	"CPLANE1(NM_023073.4):c.7588+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37164268C>T"	""	"VUS"	""
"0000525630"	"0"	"10"	"5"	"37164434"	"37164434"	"subst"	"0"	"02326"	"C5orf42_000171"	"g.37164434A>T"	""	""	""	"CPLANE1(NM_023073.3):c.7534-5T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37164332A>T"	""	"benign"	""
"0000525631"	"0"	"90"	"5"	"37165762"	"37165762"	"del"	"4.21464E-6"	"02327"	"C5orf42_000172"	"g.37165762del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37165660del"	""	"pathogenic"	""
"0000525632"	"0"	"30"	"5"	"37167142"	"37167142"	"subst"	"0"	"01804"	"C5orf42_000173"	"g.37167142G>C"	""	""	""	"C5ORF42(NM_023073.3):c.7400+7C>G (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37167040G>C"	""	"likely benign"	""
"0000525633"	"0"	"10"	"5"	"37167182"	"37167182"	"subst"	"0.000278139"	"02330"	"C5orf42_000174"	"g.37167182G>A"	""	""	""	"C5orf42(NM_023073.3):c.7367C>T (p.P2456L, p.(Pro2456Leu)), CPLANE1(NM_023073.4):c.7367C>T (p.P2456L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37167080G>A"	""	"benign"	""
"0000525634"	"0"	"50"	"5"	"37167182"	"37167182"	"subst"	"0.000278139"	"01943"	"C5orf42_000174"	"g.37167182G>A"	""	""	""	"C5orf42(NM_023073.3):c.7367C>T (p.P2456L, p.(Pro2456Leu)), CPLANE1(NM_023073.4):c.7367C>T (p.P2456L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37167080G>A"	""	"VUS"	""
"0000525635"	"0"	"30"	"5"	"37167182"	"37167182"	"subst"	"0.000278139"	"01804"	"C5orf42_000174"	"g.37167182G>A"	""	""	""	"C5orf42(NM_023073.3):c.7367C>T (p.P2456L, p.(Pro2456Leu)), CPLANE1(NM_023073.4):c.7367C>T (p.P2456L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37167080G>A"	""	"likely benign"	""
"0000525636"	"0"	"50"	"5"	"37167251"	"37167251"	"subst"	"0.000195181"	"02330"	"C5orf42_000175"	"g.37167251A>G"	""	""	""	"C5orf42(NM_023073.3):c.7298T>C (p.L2433P), CPLANE1(NM_023073.4):c.7298T>C (p.L2433P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37167149A>G"	""	"VUS"	""
"0000525637"	"0"	"30"	"5"	"37167251"	"37167251"	"subst"	"0.000195181"	"01943"	"C5orf42_000175"	"g.37167251A>G"	""	""	""	"C5orf42(NM_023073.3):c.7298T>C (p.L2433P), CPLANE1(NM_023073.4):c.7298T>C (p.L2433P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37167149A>G"	""	"likely benign"	""
"0000525638"	"0"	"30"	"5"	"37167274"	"37167274"	"subst"	"0.000318056"	"01943"	"C5orf42_000146"	"g.37167274C>T"	""	""	""	"C5orf42(NM_023073.3):c.7275G>A (p.A2425=), CPLANE1(NM_023073.4):c.7275G>A (p.A2425=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37167172C>T"	""	"likely benign"	""
"0000525639"	"0"	"30"	"5"	"37167274"	"37167274"	"subst"	"0.000318056"	"02325"	"C5orf42_000146"	"g.37167274C>T"	""	""	""	"C5orf42(NM_023073.3):c.7275G>A (p.A2425=), CPLANE1(NM_023073.4):c.7275G>A (p.A2425=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37167172C>T"	""	"likely benign"	""
"0000525640"	"0"	"10"	"5"	"37167330"	"37167333"	"del"	"0"	"02330"	"C5orf42_000176"	"g.37167330_37167333del"	""	""	""	"CPLANE1(NM_023073.4):c.7234-15_7234-12delGTTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37167228_37167231del"	""	"benign"	""
"0000525641"	"0"	"50"	"5"	"37169221"	"37169221"	"subst"	"0.00161691"	"01943"	"C5orf42_000060"	"g.37169221G>A"	""	""	""	"C5orf42(NM_023073.3):c.6905C>T (p.T2302M, p.(Thr2302Met)), CPLANE1(NM_023073.3):c.6905C>T (p.T2302M), CPLANE1(NM_023073.4):c.6905C>T (p.T2302M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37169119G>A"	""	"VUS"	""
"0000525642"	"0"	"30"	"5"	"37169221"	"37169221"	"subst"	"0.00161691"	"01804"	"C5orf42_000060"	"g.37169221G>A"	""	""	""	"C5orf42(NM_023073.3):c.6905C>T (p.T2302M, p.(Thr2302Met)), CPLANE1(NM_023073.3):c.6905C>T (p.T2302M), CPLANE1(NM_023073.4):c.6905C>T (p.T2302M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37169119G>A"	""	"likely benign"	""
"0000525643"	"0"	"90"	"5"	"37169426"	"37169426"	"subst"	"4.06293E-6"	"01943"	"C5orf42_000177"	"g.37169426G>A"	""	""	""	"C5orf42(NM_023073.3):c.6700C>T (p.Q2234*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37169324G>A"	""	"pathogenic"	""
"0000525644"	"0"	"10"	"5"	"37169472"	"37169472"	"subst"	"0"	"02330"	"C5orf42_000178"	"g.37169472T>C"	""	""	""	"CPLANE1(NM_023073.3):c.6654A>G (p.T2218=), CPLANE1(NM_023073.4):c.6654A>G (p.T2218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37169370T>C"	""	"benign"	""
"0000525645"	"0"	"10"	"5"	"37170162"	"37170162"	"subst"	"0.000899105"	"02330"	"C5orf42_000179"	"g.37170162T>C"	""	""	""	"CPLANE1(NM_023073.4):c.6443A>G (p.N2148S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37170060T>C"	""	"benign"	""
"0000525646"	"0"	"30"	"5"	"37170178"	"37170178"	"subst"	"0.0113015"	"01804"	"C5orf42_000063"	"g.37170178T>C"	""	""	""	"C5orf42(NM_023073.3):c.6427A>G (p.I2143V, p.(Ile2143Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37170076T>C"	""	"likely benign"	""
"0000525647"	"0"	"50"	"5"	"37170195"	"37170195"	"subst"	"0"	"01943"	"C5orf42_000180"	"g.37170195T>C"	""	""	""	"C5orf42(NM_023073.3):c.6410A>G (p.H2137R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37170093T>C"	""	"VUS"	""
"0000525648"	"0"	"30"	"5"	"37176061"	"37176061"	"subst"	"0.00136739"	"01943"	"C5orf42_000181"	"g.37176061C>T"	""	""	""	"C5orf42(NM_023073.3):c.5928G>A (p.G1976=), CPLANE1(NM_001384732.1):c.5928G>A (p.G1976=), CPLANE1(NM_023073.3):c.5928G>A (p.G1976=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37175959C>T"	""	"likely benign"	""
"0000525649"	"0"	"10"	"5"	"37179456"	"37179456"	"subst"	"0.000889791"	"02330"	"C5orf42_000182"	"g.37179456G>A"	""	""	""	"CPLANE1(NM_023073.4):c.5820+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37179354G>A"	""	"benign"	""
"0000525650"	"0"	"30"	"5"	"37179551"	"37179551"	"subst"	"0.000478304"	"02330"	"C5orf42_000073"	"g.37179551G>A"	""	""	""	"C5orf42(NM_023073.3):c.5738-6C>T, CPLANE1(NM_023073.4):c.5738-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37179449G>A"	""	"likely benign"	""
"0000525651"	"0"	"30"	"5"	"37180173"	"37180173"	"subst"	"4.35271E-6"	"01804"	"C5orf42_000183"	"g.37180173C>G"	""	""	""	"C5orf42(NM_023073.3):c.5683G>C (p.(Glu1895Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37180071C>G"	""	"likely benign"	""
"0000525652"	"0"	"50"	"5"	"37180277"	"37180277"	"subst"	"6.56347E-5"	"01943"	"C5orf42_000184"	"g.37180277G>A"	""	""	""	"C5orf42(NM_023073.3):c.5579C>T (p.P1860L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37180175G>A"	""	"VUS"	""
"0000525653"	"0"	"30"	"5"	"37181036"	"37181036"	"subst"	"1.62481E-5"	"01943"	"C5orf42_000185"	"g.37181036G>A"	""	""	""	"C5orf42(NM_023073.3):c.5493C>T (p.G1831=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37180934G>A"	""	"likely benign"	""
"0000525654"	"0"	"30"	"5"	"37182862"	"37182862"	"subst"	"0.00707006"	"01804"	"C5orf42_000078"	"g.37182862C>T"	""	""	""	"C5orf42(NM_023073.3):c.5421G>A (p.K1807=, p.(=)), CPLANE1(NM_023073.3):c.5421G>A (p.K1807=), CPLANE1(NM_023073.4):c.5421G>A (p.K1807=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37182760C>T"	""	"likely benign"	""
"0000525655"	"0"	"30"	"5"	"37182881"	"37182881"	"subst"	"0"	"01804"	"C5orf42_000186"	"g.37182881G>T"	""	""	""	"C5orf42(NM_023073.3):c.5402C>A (p.(Ala1801Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37182779G>T"	""	"likely benign"	""
"0000525656"	"0"	"30"	"5"	"37182882"	"37182882"	"subst"	"0"	"01804"	"C5orf42_000187"	"g.37182882C>T"	""	""	""	"C5orf42(NM_023073.3):c.5401G>A (p.(Ala1801Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37182780C>T"	""	"likely benign"	""
"0000525658"	"0"	"50"	"5"	"37183650"	"37183650"	"subst"	"4.88631E-5"	"01943"	"C5orf42_000189"	"g.37183650G>A"	""	""	""	"C5orf42(NM_023073.3):c.4633C>T (p.R1545C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37183548G>A"	""	"VUS"	""
"0000525659"	"0"	"10"	"5"	"37183766"	"37183766"	"subst"	"0.000898546"	"02330"	"C5orf42_000190"	"g.37183766T>C"	""	""	""	"C5orf42(NM_023073.3):c.4517A>G (p.H1506R, p.(His1506Arg)), CPLANE1(NM_023073.3):c.4517A>G (p.H1506R), CPLANE1(NM_023073.4):c.4517A>G (p.H1506R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37183664T>C"	""	"benign"	""
"0000525660"	"0"	"30"	"5"	"37183766"	"37183766"	"subst"	"0.000898546"	"01943"	"C5orf42_000190"	"g.37183766T>C"	""	""	""	"C5orf42(NM_023073.3):c.4517A>G (p.H1506R, p.(His1506Arg)), CPLANE1(NM_023073.3):c.4517A>G (p.H1506R), CPLANE1(NM_023073.4):c.4517A>G (p.H1506R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37183664T>C"	""	"likely benign"	""
"0000525661"	"0"	"50"	"5"	"37183786"	"37183786"	"subst"	"2.37108E-5"	"01943"	"C5orf42_000191"	"g.37183786G>C"	""	""	""	"C5orf42(NM_023073.3):c.4497C>G (p.H1499Q), CPLANE1(NM_023073.3):c.4497C>G (p.H1499Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37183684G>C"	""	"VUS"	""
"0000525663"	"0"	"50"	"5"	"37185125"	"37185125"	"subst"	"0.000150359"	"01943"	"C5orf42_000192"	"g.37185125C>T"	""	""	""	"C5orf42(NM_023073.3):c.4246G>A (p.V1416M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37185023C>T"	""	"VUS"	""
"0000525665"	"0"	"50"	"5"	"37198881"	"37198881"	"subst"	"2.43655E-5"	"01943"	"C5orf42_000193"	"g.37198881G>A"	""	""	""	"C5orf42(NM_023073.3):c.3595C>T (p.R1199W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37198779G>A"	""	"VUS"	""
"0000525666"	"0"	"70"	"5"	"37198899"	"37198899"	"subst"	"8.12189E-6"	"02327"	"C5orf42_000194"	"g.37198899G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37198797G>A"	""	"likely pathogenic"	""
"0000525667"	"0"	"10"	"5"	"37198987"	"37198987"	"subst"	"1.65135E-5"	"02330"	"C5orf42_000195"	"g.37198987T>C"	""	""	""	"CPLANE1(NM_023073.4):c.3508-19A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37198885T>C"	""	"benign"	""
"0000525668"	"0"	"10"	"5"	"37199053"	"37199053"	"dup"	"0"	"02326"	"C5orf42_000196"	"g.37199053dup"	""	""	""	"CPLANE1(NM_023073.3):c.3508-85dupC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37198951dup"	""	"benign"	""
"0000525669"	"0"	"50"	"5"	"37206348"	"37206348"	"subst"	"6.58215E-6"	"02330"	"C5orf42_000197"	"g.37206348T>C"	""	""	""	"CPLANE1(NM_023073.4):c.3100A>G (p.I1034V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37206246T>C"	""	"VUS"	""
"0000525670"	"0"	"10"	"5"	"37212593"	"37212594"	"ins"	"0"	"02326"	"C5orf42_000198"	"g.37212593_37212594insT"	""	""	""	"CPLANE1(NM_023073.3):c.2920+1067_2920+1068insA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37212491_37212492insT"	""	"benign"	""
"0000525671"	"0"	"10"	"5"	"37224707"	"37224707"	"subst"	"4.61802E-5"	"02330"	"C5orf42_000199"	"g.37224707T>C"	""	""	""	"CPLANE1(NM_023073.3):c.2427A>G (p.L809=), CPLANE1(NM_023073.4):c.2427A>G (p.L809=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37224605T>C"	""	"benign"	""
"0000525672"	"0"	"30"	"5"	"37226619"	"37226619"	"subst"	"0.000134995"	"01943"	"C5orf42_000200"	"g.37226619T>C"	""	""	""	"C5orf42(NM_023073.3):c.2078A>G (p.K693R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37226517T>C"	""	"likely benign"	""
"0000525674"	"0"	"30"	"5"	"37226942"	"37226942"	"subst"	"0.000777874"	"01943"	"C5orf42_000202"	"g.37226942T>C"	""	""	""	"C5orf42(NM_023073.3):c.1755A>G (p.S585=), CPLANE1(NM_023073.3):c.1755A>G (p.S585=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37226840T>C"	""	"likely benign"	""
"0000525675"	"0"	"30"	"5"	"37227000"	"37227000"	"subst"	"0"	"01943"	"C5orf42_000203"	"g.37227000A>G"	""	""	""	"C5orf42(NM_023073.3):c.1697T>C (p.I566T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37226898A>G"	""	"likely benign"	""
"0000525676"	"0"	"50"	"5"	"37227100"	"37227100"	"subst"	"0"	"01943"	"C5orf42_000204"	"g.37227100C>G"	""	""	""	"C5orf42(NM_023073.3):c.1597G>C (p.D533H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37226998C>G"	""	"VUS"	""
"0000525678"	"0"	"30"	"5"	"37227410"	"37227410"	"subst"	"5.8802E-5"	"01943"	"C5orf42_000117"	"g.37227410C>T"	""	""	""	"C5orf42(NM_023073.3):c.1456G>A (p.D486N, p.(Asp486Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37227308C>T"	""	"likely benign"	""
"0000525680"	"0"	"30"	"5"	"37230974"	"37230974"	"subst"	"0"	"02330"	"C5orf42_000206"	"g.37230974C>A"	""	""	""	"CPLANE1(NM_023073.4):c.1116G>T (p.T372=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37230872C>A"	""	"likely benign"	""
"0000525681"	"0"	"30"	"5"	"37239957"	"37239957"	"subst"	"3.62687E-5"	"01943"	"C5orf42_000207"	"g.37239957T>C"	""	""	""	"C5orf42(NM_023073.3):c.692A>G (p.H231R, p.(His231Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37239855T>C"	""	"likely benign"	""
"0000525682"	"0"	"30"	"5"	"37239957"	"37239957"	"subst"	"3.62687E-5"	"01804"	"C5orf42_000207"	"g.37239957T>C"	""	""	""	"C5orf42(NM_023073.3):c.692A>G (p.H231R, p.(His231Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37239855T>C"	""	"likely benign"	""
"0000525683"	"0"	"10"	"5"	"37243129"	"37243129"	"subst"	"0"	"02330"	"C5orf42_000208"	"g.37243129T>C"	""	""	""	"CPLANE1(NM_023073.4):c.663A>G (p.V221=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37243027T>C"	""	"benign"	""
"0000525684"	"0"	"30"	"5"	"37243130"	"37243130"	"subst"	"0.000876668"	"01943"	"C5orf42_000209"	"g.37243130A>G"	""	""	""	"C5orf42(NM_023073.3):c.662T>C (p.V221A, p.(Val221Ala)), CPLANE1(NM_023073.3):c.662T>C (p.V221A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37243028A>G"	""	"likely benign"	""
"0000525685"	"0"	"30"	"5"	"37243130"	"37243130"	"subst"	"0.000876668"	"01804"	"C5orf42_000209"	"g.37243130A>G"	""	""	""	"C5orf42(NM_023073.3):c.662T>C (p.V221A, p.(Val221Ala)), CPLANE1(NM_023073.3):c.662T>C (p.V221A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37243028A>G"	""	"likely benign"	""
"0000525686"	"0"	"30"	"5"	"37243166"	"37243166"	"subst"	"0.000214762"	"02330"	"C5orf42_000131"	"g.37243166T>C"	""	""	""	"C5orf42(NM_023073.3):c.626A>G (p.(Lys209Arg)), CPLANE1(NM_023073.3):c.626A>G (p.K209R), CPLANE1(NM_023073.4):c.626A>G (p.K209R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37243064T>C"	""	"likely benign"	""
"0000525687"	"0"	"50"	"5"	"37244573"	"37244573"	"subst"	"6.55746E-6"	"02327"	"C5orf42_000134"	"g.37244573C>T"	""	""	""	"CPLANE1(NM_023073.3):c.474G>A (p.A158=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37244471C>T"	""	"VUS"	""
"0000525688"	"0"	"30"	"5"	"37245911"	"37245911"	"subst"	"7.41796E-6"	"01943"	"C5orf42_000210"	"g.37245911T>C"	""	""	""	"C5orf42(NM_023073.3):c.118A>G (p.I40V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37245809T>C"	""	"likely benign"	""
"0000609708"	"0"	"50"	"5"	"37138903"	"37138903"	"subst"	"0.000228579"	"01943"	"C5orf42_000211"	"g.37138903T>C"	""	""	""	"C5orf42(NM_023073.3):c.8549A>G (p.D2850G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37138801T>C"	""	"VUS"	""
"0000609709"	"0"	"30"	"5"	"37154040"	"37154040"	"subst"	"0.000483461"	"01943"	"C5orf42_000212"	"g.37154040T>G"	""	""	""	"C5orf42(NM_023073.3):c.8013A>C (p.A2671=), CPLANE1(NM_023073.3):c.8013A>C (p.A2671=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37153938T>G"	""	"likely benign"	""
"0000609710"	"0"	"50"	"5"	"37164372"	"37164372"	"subst"	"0"	"01943"	"C5orf42_000213"	"g.37164372T>A"	""	""	""	"CPLANE1(NM_023073.3):c.7588+3A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37164270T>A"	""	"VUS"	""
"0000609711"	"0"	"30"	"5"	"37170441"	"37170441"	"subst"	"4.2723E-6"	"01804"	"C5orf42_000214"	"g.37170441A>G"	""	""	""	"C5orf42(NM_023073.3):c.6172-8T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37170339A>G"	""	"likely benign"	""
"0000609712"	"0"	"30"	"5"	"37180207"	"37180207"	"subst"	"8.87201E-6"	"02330"	"C5orf42_000215"	"g.37180207T>C"	""	""	""	"CPLANE1(NM_023073.4):c.5649A>G (p.K1883=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37180105T>C"	""	"likely benign"	""
"0000609713"	"0"	"30"	"5"	"37183766"	"37183766"	"subst"	"0.000898546"	"01804"	"C5orf42_000190"	"g.37183766T>C"	""	""	""	"C5orf42(NM_023073.3):c.4517A>G (p.H1506R, p.(His1506Arg)), CPLANE1(NM_023073.3):c.4517A>G (p.H1506R), CPLANE1(NM_023073.4):c.4517A>G (p.H1506R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37183664T>C"	""	"likely benign"	""
"0000609714"	"0"	"30"	"5"	"37183805"	"37183805"	"subst"	"1.60555E-5"	"02330"	"C5orf42_000216"	"g.37183805T>C"	""	""	""	"CPLANE1(NM_023073.4):c.4482-4A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37183703T>C"	""	"likely benign"	""
"0000609715"	"0"	"50"	"5"	"37226886"	"37226886"	"subst"	"3.49929E-5"	"01804"	"C5orf42_000218"	"g.37226886T>A"	""	""	""	"C5orf42(NM_023073.3):c.1811A>T (p.(His604Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37226784T>A"	""	"VUS"	""
"0000609716"	"0"	"50"	"5"	"37227770"	"37227770"	"subst"	"0.000138639"	"01943"	"C5orf42_000219"	"g.37227770C>T"	""	""	""	"C5orf42(NM_023073.3):c.1271G>A (p.R424Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37227668C>T"	""	"VUS"	""
"0000609717"	"0"	"50"	"5"	"37230994"	"37230994"	"subst"	"0.000158213"	"01943"	"C5orf42_000220"	"g.37230994G>A"	""	""	""	"C5orf42(NM_023073.3):c.1096C>T (p.P366S), CPLANE1(NM_001384732.1):c.1096C>T (p.(Pro366Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37230892G>A"	""	"VUS"	""
"0000621568"	"0"	"30"	"5"	"37184968"	"37184968"	"subst"	"0.000194954"	"01943"	"C5orf42_000217"	"g.37184968G>C"	""	""	""	"CPLANE1(NM_023073.3):c.4403C>G (p.S1468C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37184866G>C"	""	"likely benign"	""
"0000621569"	"0"	"30"	"5"	"37243166"	"37243166"	"subst"	"0.000214762"	"01943"	"C5orf42_000131"	"g.37243166T>C"	""	""	""	"C5orf42(NM_023073.3):c.626A>G (p.(Lys209Arg)), CPLANE1(NM_023073.3):c.626A>G (p.K209R), CPLANE1(NM_023073.4):c.626A>G (p.K209R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37243064T>C"	""	"likely benign"	""
"0000651717"	"1"	"30"	"5"	"37138845"	"37138845"	"subst"	"0.00811817"	"03575"	"C5orf42_000221"	"g.37138845T>C"	"30/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"30 heterozygous, no homozygous; {DB:CLININrs16903514}"	"Germline"	""	"rs16903514"	"0"	""	""	"g.37138743T>C"	""	"likely benign"	""
"0000651718"	"1"	"30"	"5"	"37182969"	"37182969"	"subst"	"0.00696799"	"03575"	"C5orf42_000011"	"g.37182969T>C"	"53/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"53 heterozygous, no homozygous; {DB:CLININrs79377186}"	"Germline"	""	"rs79377186"	"0"	""	""	"g.37182867T>C"	""	"likely benign"	""
"0000651719"	"1"	"50"	"5"	"37185065"	"37185065"	"subst"	"0.000308695"	"03575"	"C5orf42_000222"	"g.37185065G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs183021118}"	"Germline"	""	"rs183021118"	"0"	""	""	"g.37184963G>A"	""	"VUS"	""
"0000651720"	"1"	"70"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"03575"	"C5orf42_000001"	"g.37187590G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"1 heterozygous, no homozygous; {DB:CLININrs367543061}"	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"likely pathogenic"	""
"0000651721"	"1"	"50"	"5"	"37196028"	"37196028"	"subst"	"0.0304482"	"03575"	"C5orf42_000098"	"g.37196028C>T"	"169/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 169 heterozygous; {DB:CLININrs72736758}"	"Germline"	""	"rs72736758"	"0"	""	""	"g.37195926C>T"	""	"VUS"	""
"0000651722"	"1"	"30"	"5"	"37226961"	"37226961"	"subst"	"0.00125898"	"03575"	"C5orf42_000116"	"g.37226961G>A"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 heterozygous, no homozygous; {DB:CLININrs191239995}"	"Germline"	""	"rs191239995"	"0"	""	""	"g.37226859G>A"	""	"likely benign"	""
"0000651723"	"1"	"50"	"5"	"37231122"	"37231122"	"subst"	"2.70845E-5"	"03575"	"C5orf42_000126"	"g.37231122G>A"	"1/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs373704405}"	"Germline"	""	"rs373704405"	"0"	""	""	"g.37231020G>A"	""	"VUS"	""
"0000651724"	"1"	"50"	"5"	"37243184"	"37243184"	"subst"	"0.000282646"	"03575"	"C5orf42_000223"	"g.37243184T>C"	"10/2794 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"10 heterozygous, no homozygous; {DB:CLININrs144969169}"	"Germline"	""	"rs144969169"	"0"	""	""	"g.37243082T>C"	""	"VUS"	""
"0000655380"	"0"	"30"	"5"	"37169524"	"37169524"	"subst"	"8.52833E-5"	"01943"	"C5orf42_000224"	"g.37169524G>T"	""	""	""	"CPLANE1(NM_023073.3):c.6602C>A (p.S2201Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37169422G>T"	""	"likely benign"	""
"0000655381"	"0"	"30"	"5"	"37227868"	"37227868"	"subst"	"0.000600462"	"01943"	"C5orf42_000122"	"g.37227868A>C"	""	""	""	"CPLANE1(NM_023073.3):c.1173T>G (p.A391=), CPLANE1(NM_023073.4):c.1173T>G (p.A391=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.37227766A>C"	""	"likely benign"	""
"0000669849"	"3"	"50"	"5"	"37196028"	"37196028"	"subst"	"0.0304482"	"03575"	"C5orf42_000098"	"g.37196028C>T"	"4/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 4 homozygous; {DB:CLININrs72736758}"	"Germline"	""	"rs72736758"	"0"	""	""	"g.37195926C>T"	""	"VUS"	""
"0000677509"	"0"	"30"	"5"	"37142450"	"37142450"	"subst"	"3.34571E-5"	"01943"	"C5orf42_000225"	"g.37142450C>T"	""	""	""	"CPLANE1(NM_023073.3):c.8432G>A (p.S2811N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000677510"	"0"	"50"	"5"	"37142583"	"37142583"	"subst"	"0.000382632"	"02325"	"C5orf42_000020"	"g.37142583C>G"	""	""	""	"C5orf42(NM_023073.3):c.8300-1G>C, CPLANE1(NM_001384732.1):c.8462-1G>C, CPLANE1(NM_023073.3):c.8300-1G>C, CPLANE1(NM_023073.4):c.8300-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000677511"	"0"	"30"	"5"	"37158326"	"37158326"	"subst"	"0"	"01804"	"C5orf42_000226"	"g.37158326C>A"	""	""	""	"C5orf42(NM_023073.3):c.7812G>T (p.(Leu2604Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000683624"	"0"	"90"	"5"	"37226664"	"37226664"	"del"	"0"	"01807"	"C5orf42_000228"	"g.37226664del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000683625"	"0"	"50"	"5"	"37180984"	"37180984"	"subst"	"0"	"01807"	"C5orf42_000227"	"g.37180984T>A"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"VUS"	""
"0000689515"	"0"	"90"	"5"	"37107790"	"37107791"	"dup"	"0"	"01943"	"C5orf42_000229"	"g.37107790_37107791dup"	""	""	""	"CPLANE1(NM_023073.3):c.9507_9508dupCA (p.S3170Tfs*49)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000689516"	"0"	"30"	"5"	"37164385"	"37164385"	"subst"	"2.03131E-5"	"01943"	"C5orf42_000230"	"g.37164385G>A"	""	""	""	"CPLANE1(NM_023073.3):c.7578C>T (p.D2526=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000689517"	"0"	"90"	"5"	"37205497"	"37205497"	"del"	"0"	"02325"	"C5orf42_000231"	"g.37205497del"	""	""	""	"CPLANE1(NM_023073.4):c.3213delA (p.K1071Nfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000689518"	"0"	"90"	"5"	"37226885"	"37226885"	"del"	"0"	"01943"	"C5orf42_000201"	"g.37226885del"	""	""	""	"CPLANE1(NM_023073.3):c.1819delT (p.Y607Tfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000720422"	"0"	"30"	"5"	"37120312"	"37120312"	"subst"	"0"	"01943"	"C5orf42_000035"	"g.37120312T>A"	""	""	""	"CPLANE1(NM_023073.3):c.9148+6A>T, CPLANE1(NM_023073.4):c.9148+6A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720423"	"0"	"70"	"5"	"37142583"	"37142583"	"subst"	"0.000382632"	"02329"	"C5orf42_000020"	"g.37142583C>G"	""	""	""	"C5orf42(NM_023073.3):c.8300-1G>C, CPLANE1(NM_001384732.1):c.8462-1G>C, CPLANE1(NM_023073.3):c.8300-1G>C, CPLANE1(NM_023073.4):c.8300-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000720424"	"0"	"50"	"5"	"37153901"	"37153901"	"subst"	"2.43865E-5"	"01943"	"C5orf42_000232"	"g.37153901C>T"	""	""	""	"CPLANE1(NM_023073.3):c.8152G>A (p.A2718T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720425"	"0"	"90"	"5"	"37157912"	"37157912"	"subst"	"2.44E-5"	"01943"	"C5orf42_000166"	"g.37157912A>T"	""	""	""	"CPLANE1(NM_023073.3):c.7817T>A (p.L2606*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000720426"	"0"	"30"	"5"	"37169472"	"37169472"	"subst"	"0"	"01943"	"C5orf42_000178"	"g.37169472T>C"	""	""	""	"CPLANE1(NM_023073.3):c.6654A>G (p.T2218=), CPLANE1(NM_023073.4):c.6654A>G (p.T2218=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720427"	"0"	"50"	"5"	"37170223"	"37170223"	"subst"	"1.21906E-5"	"01943"	"C5orf42_000233"	"g.37170223C>T"	""	""	""	"CPLANE1(NM_023073.3):c.6382G>A (p.A2128T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720428"	"0"	"50"	"5"	"37170304"	"37170304"	"subst"	"4.0621E-6"	"01943"	"C5orf42_000234"	"g.37170304T>C"	""	""	""	"CPLANE1(NM_023073.3):c.6301A>G (p.R2101G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720429"	"0"	"50"	"5"	"37183496"	"37183496"	"subst"	"8.15415E-6"	"01943"	"C5orf42_000235"	"g.37183496A>G"	""	""	""	"CPLANE1(NM_023073.3):c.4787T>C (p.V1596A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720430"	"0"	"70"	"5"	"37183802"	"37183802"	"subst"	"1.05504E-5"	"02329"	"C5orf42_000086"	"g.37183802C>A"	""	""	""	"CPLANE1(NM_023073.4):c.4482-1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000720431"	"0"	"30"	"5"	"37224707"	"37224707"	"subst"	"4.61802E-5"	"01943"	"C5orf42_000199"	"g.37224707T>C"	""	""	""	"CPLANE1(NM_023073.3):c.2427A>G (p.L809=), CPLANE1(NM_023073.4):c.2427A>G (p.L809=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720432"	"0"	"50"	"5"	"37226512"	"37226512"	"subst"	"5.33796E-5"	"02329"	"C5orf42_000113"	"g.37226512T>C"	""	""	""	"CPLANE1(NM_023073.4):c.2185A>G (p.I729V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000720433"	"0"	"30"	"5"	"37226795"	"37226795"	"subst"	"5.3118E-5"	"01943"	"C5orf42_000114"	"g.37226795A>C"	""	""	""	"CPLANE1(NM_023073.3):c.1902T>G (p.L634=), CPLANE1(NM_023073.4):c.1902T>G (p.L634=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720434"	"0"	"50"	"5"	"37227860"	"37227860"	"subst"	"0"	"01943"	"C5orf42_000236"	"g.37227860C>A"	""	""	""	"CPLANE1(NM_023073.3):c.1181G>T (p.S394I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000759761"	"11"	"90"	"5"	"37198899"	"37198899"	"subst"	"8.12189E-6"	"00000"	"C5orf42_000194"	"g.37198899G>A"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37198797G>A"	""	"pathogenic"	""
"0000759775"	"11"	"90"	"5"	"37198920"	"37198920"	"del"	"0"	"00000"	"C5orf42_000239"	"g.37198920del"	""	"{PMID:Suzuki 2016:27434533}"	""	"c.3557delA"	""	"Germline"	""	""	"0"	""	""	"g.37198818del"	""	"pathogenic"	""
"0000759786"	"21"	"90"	"5"	"37186415"	"37186415"	"subst"	"0"	"00000"	"C5orf42_000237"	"g.37186415G>C"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37186313G>C"	""	"pathogenic"	""
"0000759798"	"21"	"90"	"5"	"37198877"	"37198877"	"subst"	"1.62441E-5"	"00000"	"C5orf42_000238"	"g.37198877G>A"	""	"{PMID:Suzuki 2016:27434533}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37198775G>A"	""	"pathogenic"	""
"0000763552"	"3"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"03219"	"C5orf42_000010"	"g.37125432G>A"	""	""	""	""	""	"Germline"	""	""	""	""	""	""	""	"pathogenic"	"ACMG"
"0000765663"	"21"	"90"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00000"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543062"	"0"	""	""	"g.37167046C>T"	""	"pathogenic (recessive)"	""
"0000765664"	"21"	"90"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00000"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543062"	"0"	""	""	"g.37167046C>T"	""	"pathogenic (recessive)"	""
"0000765665"	"21"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765666"	"21"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765667"	"21"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765668"	"11"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765669"	"21"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765670"	"21"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765671"	"11"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765672"	"11"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765673"	"11"	"90"	"5"	"37157484"	"37157484"	"subst"	"0"	"00000"	"C5orf42_000003"	"g.37157484C>T"	""	"{PMID:Srour 2015:26477546}"	""	"ENST00000509849:c.4690G>A (Ala1564Thr)"	""	"Germline"	""	"rs111294855"	"0"	""	""	"g.37157382C>T"	""	"pathogenic (recessive)"	""
"0000765674"	"21"	"90"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00000"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543062"	"0"	""	""	"g.37167046C>T"	""	"pathogenic (recessive)"	""
"0000765675"	"3"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765676"	"21"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765677"	"11"	"90"	"5"	"37170256"	"37170256"	"dup"	"0"	"00000"	"C5orf42_000241"	"g.37170256dup"	""	"{PMID:Srour 2015:26477546}"	""	"c.6354dupT"	""	"Germline"	""	""	"0"	""	""	"g.37170154dup"	""	"pathogenic (recessive)"	""
"0000765678"	"3"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765679"	"3"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543061"	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0000765707"	"11"	"90"	"5"	"37157484"	"37157484"	"subst"	"0"	"00000"	"C5orf42_000003"	"g.37157484C>T"	""	"{PMID:Srour 2015:26477546}"	""	"ENST00000509849:c.4690G>A (Ala1564Thr)"	""	"Germline"	""	"rs111294855"	"0"	""	""	"g.37157382C>T"	""	"pathogenic (recessive)"	""
"0000765708"	"11"	"90"	"5"	"37157484"	"37157484"	"subst"	"0"	"00000"	"C5orf42_000003"	"g.37157484C>T"	""	"{PMID:Srour 2015:26477546}"	""	"ENST00000509849:c.4690G>A (Ala1564Thr)"	""	"Germline"	""	"rs111294855"	"0"	""	""	"g.37157382C>T"	""	"pathogenic (recessive)"	""
"0000765709"	"11"	"90"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00000"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543062"	"0"	""	""	"g.37167046C>T"	""	"pathogenic (recessive)"	""
"0000765710"	"11"	"90"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00000"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543062"	"0"	""	""	"g.37167046C>T"	""	"pathogenic (recessive)"	""
"0000765711"	"11"	"90"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00000"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543062"	"0"	""	""	"g.37167046C>T"	""	"pathogenic (recessive)"	""
"0000765712"	"21"	"90"	"5"	"37157484"	"37157484"	"subst"	"0"	"00000"	"C5orf42_000003"	"g.37157484C>T"	""	"{PMID:Srour 2015:26477546}"	""	"ENST00000509849:c.4690G>A (Ala1564Thr)"	""	"Germline"	""	"rs111294855"	"0"	""	""	"g.37157382C>T"	""	"pathogenic (recessive)"	""
"0000765713"	"11"	"90"	"5"	"37170200"	"37170200"	"del"	"0"	"00000"	"C5orf42_000004"	"g.37170200del"	""	"{PMID:Srour 2015:26477546}"	""	"c.6407delC"	""	"Germline"	""	""	"0"	""	""	"g.37170098del"	""	"pathogenic (recessive)"	""
"0000765714"	"11"	"90"	"5"	"37170200"	"37170200"	"del"	"0"	"00000"	"C5orf42_000004"	"g.37170200del"	""	"{PMID:Srour 2015:26477546}"	""	"c.6407delC"	""	"Germline"	""	""	"0"	""	""	"g.37170098del"	""	"pathogenic (recessive)"	""
"0000765715"	"21"	"90"	"5"	"37183479"	"37183479"	"subst"	"4.08847E-6"	"00000"	"C5orf42_000006"	"g.37183479G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37183377G>A"	""	"pathogenic (recessive)"	""
"0000765716"	"21"	"90"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00000"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543062"	"0"	""	""	"g.37167046C>T"	""	"pathogenic (recessive)"	""
"0000765717"	"21"	"90"	"5"	"37165697"	"37165697"	"subst"	"5.76692E-5"	"00000"	"C5orf42_000005"	"g.37165697G>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs139675596"	"0"	""	""	"g.37165595G>A"	""	"pathogenic (recessive)"	""
"0000765718"	"11"	"90"	"5"	"37148325"	"37148325"	"dup"	"0"	"00000"	"C5orf42_000240"	"g.37148325dup"	""	"{PMID:Srour 2015:26477546}"	""	"c.8263dupA"	""	"Germline"	""	""	"0"	""	""	"g.37148223dup"	""	"pathogenic (recessive)"	""
"0000765719"	"11"	"90"	"5"	"37167148"	"37167148"	"subst"	"1.27221E-5"	"00000"	"C5orf42_000002"	"g.37167148C>T"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	"rs367543062"	"0"	""	""	"g.37167046C>T"	""	"pathogenic (recessive)"	""
"0000765720"	"21"	"90"	"5"	"37157484"	"37157484"	"subst"	"0"	"00000"	"C5orf42_000003"	"g.37157484C>T"	""	"{PMID:Srour 2015:26477546}"	""	"ENST00000509849:c.4690G>A (Ala1564Thr)"	""	"Germline"	""	"rs111294855"	"0"	""	""	"g.37157382C>T"	""	"pathogenic (recessive)"	""
"0000783356"	"1"	"90"	"5"	"37125418"	"37125418"	"del"	"0"	"00000"	"C5orf42_000244"	"g.37125418del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8725delG"	""	"Germline"	""	""	"0"	""	""	"g.37125316del"	""	"pathogenic"	""
"0000783357"	"1"	"90"	"5"	"37153886"	"37153886"	"subst"	"0"	"00000"	"C5orf42_000248"	"g.37153886G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8167C>T"	""	"Germline"	""	""	"0"	""	""	"g.37153784G>A"	""	"pathogenic"	""
"0000783358"	"1"	"90"	"5"	"37244554"	"37244554"	"del"	"0.000151322"	"00000"	"C5orf42_000012"	"g.37244554del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.493delA"	""	"Germline"	""	""	"0"	""	""	"g.37244452del"	""	"pathogenic"	""
"0000783359"	"1"	"90"	"5"	"37125426"	"37125426"	"subst"	"0"	"00000"	"C5orf42_000245"	"g.37125426C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8716G>T"	""	"Germline"	""	""	"0"	""	""	"g.37125324C>A"	""	"pathogenic"	""
"0000783360"	"1"	"90"	"5"	"37122531"	"37122531"	"subst"	"8.15295E-6"	"00000"	"C5orf42_000242"	"g.37122531C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8855+1G>A"	""	"Germline"	""	""	"0"	""	""	"g.37122429C>T"	""	"pathogenic"	""
"0000783361"	"1"	"90"	"5"	"37165697"	"37165697"	"subst"	"5.76692E-5"	"00000"	"C5orf42_000005"	"g.37165697G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7477C>T"	""	"Germline"	""	""	"0"	""	""	"g.37165595G>A"	""	"pathogenic"	""
"0000783362"	"1"	"90"	"5"	"37165697"	"37165697"	"subst"	"5.76692E-5"	"00000"	"C5orf42_000005"	"g.37165697G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7477C>T"	""	"Germline"	""	""	"0"	""	""	"g.37165595G>A"	""	"pathogenic"	""
"0000783363"	"1"	"90"	"5"	"37148318"	"37148319"	"ins"	"8.15574E-6"	"00000"	"C5orf42_000247"	"g.37148318_37148319insC"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8263_8264insG"	""	"Germline"	""	""	"0"	""	""	"g.37148216_37148217insC"	""	"pathogenic"	""
"0000783364"	"1"	"90"	"5"	"37148318"	"37148319"	"ins"	"8.15574E-6"	"00000"	"C5orf42_000247"	"g.37148318_37148319insC"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8263_8264insG"	""	"Germline"	""	""	"0"	""	""	"g.37148216_37148217insC"	""	"pathogenic"	""
"0000783365"	"1"	"90"	"5"	"37148318"	"37148319"	"ins"	"8.15574E-6"	"00000"	"C5orf42_000247"	"g.37148318_37148319insC"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8263_8264insG"	""	"Germline"	""	""	"0"	""	""	"g.37148216_37148217insC"	""	"pathogenic"	""
"0000783366"	"1"	"90"	"5"	"37154075"	"37154075"	"subst"	"2.04586E-5"	"00000"	"C5orf42_000007"	"g.37154075G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7978C>T"	""	"Germline"	""	""	"0"	""	""	"g.37153973G>A"	""	"pathogenic"	""
"0000783367"	"1"	"90"	"5"	"37154075"	"37154075"	"subst"	"2.04586E-5"	"00000"	"C5orf42_000007"	"g.37154075G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7978C>T"	""	"Germline"	""	""	"0"	""	""	"g.37153973G>A"	""	"pathogenic"	""
"0000783368"	"1"	"90"	"5"	"37138844"	"37138844"	"subst"	"0"	"00000"	"C5orf42_000246"	"g.37138844C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8608G>T"	""	"Germline"	""	""	"0"	""	""	"g.37138742C>A"	""	"pathogenic"	""
"0000783369"	"1"	"90"	"5"	"37168938"	"37168938"	"del"	"0"	"00000"	"C5orf42_000250"	"g.37168938del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7190delC"	""	"Germline"	""	""	"0"	""	""	"g.37168836del"	""	"pathogenic"	""
"0000783370"	"1"	"90"	"5"	"37168938"	"37168938"	"del"	"0"	"00000"	"C5orf42_000250"	"g.37168938del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7190delC"	""	"Germline"	""	""	"0"	""	""	"g.37168836del"	""	"pathogenic"	""
"0000783371"	"1"	"90"	"5"	"37120408"	"37120408"	"subst"	"3.56637E-5"	"00000"	"C5orf42_000155"	"g.37120408G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.9058C>T"	""	"Germline"	""	""	"0"	""	""	"g.37120306G>A"	""	"pathogenic"	""
"0000783372"	"1"	"90"	"5"	"37148325"	"37148325"	"dup"	"0"	"00000"	"C5orf42_000240"	"g.37148325dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8263dupA"	""	"Germline"	""	""	"0"	""	""	"g.37148223dup"	""	"pathogenic"	""
"0000783373"	"1"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8710C>T"	""	"Germline"	""	""	"0"	""	""	"g.37125330G>A"	""	"pathogenic"	""
"0000783374"	"1"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8710C>T"	""	"Germline"	""	""	"0"	""	""	"g.37125330G>A"	""	"pathogenic"	""
"0000783375"	"1"	"90"	"5"	"37198844"	"37198845"	"del"	"0"	"00000"	"C5orf42_000253"	"g.37198844_37198845del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.3636_3637delAT"	""	"Germline"	""	""	"0"	""	""	"g.37198742_37198743del"	""	"pathogenic"	""
"0000783376"	"1"	"90"	"5"	"37244554"	"37244554"	"del"	"0.000151322"	"00000"	"C5orf42_000012"	"g.37244554del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.493delA"	""	"Germline"	""	""	"0"	""	""	"g.37244452del"	""	"pathogenic"	""
"0000783377"	"3"	"90"	"5"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000008"	"g.37154064_37154065del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7988_7989delGA"	""	"Germline"	""	""	"0"	""	""	"g.37153962_37153963del"	""	"pathogenic"	""
"0000783378"	"1"	"90"	"5"	"37226422"	"37226422"	"subst"	"0"	"00000"	"C5orf42_000263"	"g.37226422G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2275C>T"	""	"Germline"	""	""	"0"	""	""	"g.37226320G>A"	""	"pathogenic"	""
"0000783379"	"3"	"90"	"5"	"37158360"	"37158360"	"subst"	"0"	"00000"	"C5orf42_000249"	"g.37158360C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7778G>A"	""	"Germline"	""	""	"0"	""	""	"g.37158258C>T"	""	"pathogenic"	""
"0000783380"	"3"	"90"	"5"	"37158360"	"37158360"	"subst"	"0"	"00000"	"C5orf42_000249"	"g.37158360C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7778G>A"	""	"Germline"	""	""	"0"	""	""	"g.37158258C>T"	""	"pathogenic"	""
"0000783381"	"3"	"90"	"5"	"37165697"	"37165697"	"subst"	"5.76692E-5"	"00000"	"C5orf42_000005"	"g.37165697G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7477C>T"	""	"Germline"	""	""	"0"	""	""	"g.37165595G>A"	""	"pathogenic"	""
"0000783382"	"1"	"90"	"5"	"37157912"	"37157912"	"subst"	"2.44E-5"	"00000"	"C5orf42_000166"	"g.37157912A>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7817T>A"	""	"Germline"	""	""	"0"	""	""	"g.37157810A>T"	""	"pathogenic"	""
"0000783383"	"3"	"90"	"5"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000008"	"g.37154064_37154065del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7988_7989delGA"	""	"Germline"	""	""	"0"	""	""	"g.37153962_37153963del"	""	"pathogenic"	""
"0000783384"	"1"	"90"	"5"	"37244538"	"37244538"	"dup"	"0"	"00000"	"C5orf42_000265"	"g.37244538dup"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.510dupT"	""	"Germline"	""	""	"0"	""	""	"g.37244436dup"	""	"pathogenic"	""
"0000783385"	"3"	"90"	"5"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000008"	"g.37154064_37154065del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7988_7989delGA"	""	"Germline"	""	""	"0"	""	""	"g.37153962_37153963del"	""	"pathogenic"	""
"0000783386"	"3"	"90"	"5"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000008"	"g.37154064_37154065del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7988_7989delGA"	""	"Germline"	""	""	"0"	""	""	"g.37153962_37153963del"	""	"pathogenic"	""
"0000783387"	"3"	"90"	"5"	"37158360"	"37158360"	"subst"	"0"	"00000"	"C5orf42_000249"	"g.37158360C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7778G>A"	""	"Germline"	""	""	"0"	""	""	"g.37158258C>T"	""	"pathogenic"	""
"0000783388"	"1"	"90"	"5"	"37206317"	"37206318"	"ins"	"0"	"00000"	"C5orf42_000254"	"g.37206317_37206318insT"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.3130_3131insA"	""	"Germline"	""	""	"0"	""	""	"g.37206215_37206216insT"	""	"pathogenic"	""
"0000783389"	"1"	"90"	"5"	"37198844"	"37198845"	"del"	"0"	"00000"	"C5orf42_000253"	"g.37198844_37198845del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.3636_3637delAT"	""	"Germline"	""	""	"0"	""	""	"g.37198742_37198743del"	""	"pathogenic"	""
"0000783390"	"1"	"90"	"5"	"37244538"	"37244538"	"del"	"0"	"00000"	"C5orf42_000266"	"g.37244538del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.510delT"	""	"Germline"	""	""	"0"	""	""	"g.37244436del"	""	"pathogenic"	""
"0000783391"	"1"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8710C>T"	""	"Germline"	""	""	"0"	""	""	"g.37125330G>A"	""	"pathogenic"	""
"0000783392"	"1"	"90"	"5"	"37170337"	"37170338"	"del"	"0"	"00000"	"C5orf42_000251"	"g.37170337_37170338del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.6269_6270delTG"	""	"Germline"	""	""	"0"	""	""	"g.37170235_37170236del"	""	"pathogenic"	""
"0000783581"	"1"	"70"	"5"	"37154075"	"37154075"	"subst"	"2.04586E-5"	"00000"	"C5orf42_000007"	"g.37154075G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7978C>T"	""	"Germline"	""	""	"0"	""	""	"g.37153973G>A"	""	"likely pathogenic"	""
"0000783616"	"2"	"90"	"5"	"37244554"	"37244554"	"del"	"0.000151322"	"00000"	"C5orf42_000012"	"g.37244554del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.493delA"	""	"Germline"	""	""	"0"	""	""	"g.37244452del"	""	"pathogenic"	""
"0000783617"	"2"	"90"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00000"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.1784T>G"	""	"Germline"	""	""	"0"	""	""	"g.37226811A>C"	""	"pathogenic"	""
"0000783618"	"2"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.4006C>T"	""	"Germline"	""	""	"0"	""	""	"g.37187488G>A"	""	"pathogenic"	""
"0000783619"	"2"	"90"	"5"	"37206441"	"37206441"	"subst"	"0"	"00000"	"C5orf42_000255"	"g.37206441C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.3007G>T"	""	"Germline"	""	""	"0"	""	""	"g.37206339C>A"	""	"pathogenic"	""
"0000783620"	"2"	"90"	"5"	"37206449"	"37206449"	"subst"	"1.31999E-5"	"00000"	"C5orf42_000256"	"g.37206449C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2999G>T"	""	"Germline"	""	""	"0"	""	""	"g.37206347C>A"	""	"pathogenic"	""
"0000783621"	"2"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.4006C>T"	""	"Germline"	""	""	"0"	""	""	"g.37187488G>A"	""	"pathogenic"	""
"0000783622"	"2"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00000"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.4006C>T"	""	"Germline"	""	""	"0"	""	""	"g.37187488G>A"	""	"pathogenic"	""
"0000783623"	"2"	"90"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00000"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.1784T>G"	""	"Germline"	""	""	"0"	""	""	"g.37226811A>C"	""	"pathogenic"	""
"0000783624"	"2"	"90"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00000"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.1784T>G"	""	"Germline"	""	""	"0"	""	""	"g.37226811A>C"	""	"pathogenic"	""
"0000783625"	"2"	"90"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00000"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.1784T>G"	""	"Germline"	""	""	"0"	""	""	"g.37226811A>C"	""	"pathogenic"	""
"0000783626"	"2"	"90"	"5"	"37224757"	"37224757"	"subst"	"6.57687E-6"	"00000"	"C5orf42_000261"	"g.37224757G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2377C>T"	""	"Germline"	""	""	"0"	""	""	"g.37224655G>A"	""	"pathogenic"	""
"0000783627"	"2"	"90"	"5"	"37224757"	"37224757"	"subst"	"6.57687E-6"	"00000"	"C5orf42_000261"	"g.37224757G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2377C>T"	""	"Germline"	""	""	"0"	""	""	"g.37224655G>A"	""	"pathogenic"	""
"0000783628"	"2"	"90"	"5"	"37224781"	"37224781"	"subst"	"3.28705E-5"	"00000"	"C5orf42_000262"	"g.37224781G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2353C>T"	""	"Germline"	""	""	"0"	""	""	"g.37224679G>A"	""	"pathogenic"	""
"0000783629"	"2"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8710C>T"	""	"Germline"	""	""	"0"	""	""	"g.37125330G>A"	""	"pathogenic"	""
"0000783630"	"2"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8710C>T"	""	"Germline"	""	""	"0"	""	""	"g.37125330G>A"	""	"pathogenic"	""
"0000783631"	"2"	"90"	"5"	"37221463"	"37221463"	"subst"	"0"	"00000"	"C5orf42_000259"	"g.37221463C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2709G>A"	""	"Germline"	""	""	"0"	""	""	"g.37221361C>T"	""	"pathogenic"	""
"0000783632"	"2"	"90"	"5"	"37165697"	"37165697"	"subst"	"5.76692E-5"	"00000"	"C5orf42_000005"	"g.37165697G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.7477C>T"	""	"Germline"	""	""	"0"	""	""	"g.37165595G>A"	""	"pathogenic"	""
"0000783633"	"2"	"90"	"5"	"37213750"	"37213750"	"subst"	"2.00149E-5"	"00000"	"C5orf42_000258"	"g.37213750C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2831G>A"	""	"Germline"	""	""	"0"	""	""	"g.37213648C>T"	""	"pathogenic"	""
"0000783634"	"2"	"90"	"5"	"37206525"	"37206525"	"subst"	"6.62436E-6"	"00000"	"C5orf42_000257"	"g.37206525G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2923C>T"	""	"Germline"	""	""	"0"	""	""	"g.37206423G>A"	""	"pathogenic"	""
"0000783635"	"2"	"90"	"5"	"37122531"	"37122531"	"subst"	"0"	"00000"	"C5orf42_000243"	"g.37122531C>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8855+1G>T"	""	"Germline"	""	""	"0"	""	""	"g.37122429C>A"	""	"pathogenic"	""
"0000783636"	"2"	"90"	"5"	"37231122"	"37231122"	"subst"	"2.70845E-5"	"00000"	"C5orf42_000126"	"g.37231122G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.968C>T"	""	"Germline"	""	""	"0"	""	""	"g.37231020G>A"	""	"pathogenic"	""
"0000783637"	"2"	"90"	"5"	"37221561"	"37221561"	"subst"	"0"	"00000"	"C5orf42_000260"	"g.37221561G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2611C>T"	""	"Germline"	""	""	"0"	""	""	"g.37221459G>A"	""	"pathogenic"	""
"0000783638"	"2"	"90"	"5"	"37226885"	"37226885"	"del"	"0"	"00000"	"C5orf42_000201"	"g.37226885del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.1819delT"	""	"Germline"	""	""	"0"	""	""	"g.37226783del"	""	"pathogenic"	""
"0000783639"	"2"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.8710C>T"	""	"Germline"	""	""	"0"	""	""	"g.37125330G>A"	""	"pathogenic"	""
"0000783640"	"2"	"90"	"5"	"37198877"	"37198877"	"subst"	"1.62441E-5"	"00000"	"C5orf42_000238"	"g.37198877G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.3599C>T"	""	"Germline"	""	""	"0"	""	""	"g.37198775G>A"	""	"pathogenic"	""
"0000783641"	"2"	"90"	"5"	"37244623"	"37244623"	"subst"	"0.000118267"	"00000"	"C5orf42_000267"	"g.37244623C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.424G>A"	""	"Germline"	""	""	"0"	""	""	"g.37244521C>T"	""	"pathogenic"	""
"0000783642"	"2"	"90"	"5"	"37239832"	"37239832"	"subst"	"0"	"00000"	"C5orf42_000264"	"g.37239832T>G"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.817A>C"	""	"Germline"	""	""	"0"	""	""	"g.37239730T>G"	""	"pathogenic"	""
"0000783643"	"2"	"90"	"5"	"37226422"	"37226422"	"subst"	"0"	"00000"	"C5orf42_000263"	"g.37226422G>A"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.2275C>T"	""	"Germline"	""	""	"0"	""	""	"g.37226320G>A"	""	"pathogenic"	""
"0000783644"	"2"	"90"	"5"	"37244623"	"37244623"	"subst"	"0.000118267"	"00000"	"C5orf42_000267"	"g.37244623C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.424G>A"	""	"Germline"	""	""	"0"	""	""	"g.37244521C>T"	""	"pathogenic"	""
"0000783753"	"2"	"70"	"5"	"37187928"	"37187928"	"subst"	"0.000655815"	"00000"	"C5orf42_000252"	"g.37187928A>G"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_023073.3:c.3828T>C"	""	"Germline"	""	""	"0"	""	""	"g.37187826A>G"	""	"likely pathogenic"	""
"0000785425"	"0"	"50"	"5"	"37183665"	"37183665"	"subst"	"4.0715E-6"	"00000"	"C5orf42_000271"	"g.37183665C>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37183563C>A"	""	"VUS"	""
"0000785430"	"0"	"50"	"5"	"37120401"	"37120401"	"subst"	"3.94823E-5"	"00000"	"C5orf42_000268"	"g.37120401C>T"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37120299C>T"	""	"VUS"	""
"0000785431"	"0"	"50"	"5"	"37170387"	"37170387"	"subst"	"0"	"00000"	"C5orf42_000270"	"g.37170387G>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37170285G>A"	""	"VUS"	""
"0000785432"	"0"	"50"	"5"	"37170387"	"37170387"	"subst"	"0"	"00000"	"C5orf42_000270"	"g.37170387G>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37170285G>A"	""	"VUS"	""
"0000785437"	"0"	"50"	"5"	"37169663"	"37169663"	"subst"	"0"	"00000"	"C5orf42_000269"	"g.37169663T>G"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37169561T>G"	""	"VUS"	""
"0000785439"	"0"	"50"	"5"	"37182935"	"37182935"	"subst"	"1.22188E-5"	"00000"	"C5orf42_000029"	"g.37182935G>T"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37182833G>T"	""	"VUS"	""
"0000785440"	"0"	"50"	"5"	"37148334"	"37148334"	"subst"	"0.000130516"	"00000"	"C5orf42_000013"	"g.37148334G>A"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37148232G>A"	""	"VUS"	""
"0000787147"	"3"	"50"	"5"	"37183640"	"37183640"	"subst"	"4.06994E-6"	"00006"	"C5orf42_000025"	"g.37183640T>C"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	"rs759649053"	"0"	""	""	"g.37183538T>C"	"{CV-RCV:000605589.1}"	"VUS"	""
"0000791732"	"3"	"70"	"5"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000008"	"g.37154064_37154065del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.7988_7989del; p.G2663Afs*40"	""	"Germline"	"?"	""	"0"	""	""	"g.37153962_37153963del"	""	"likely pathogenic"	""
"0000791733"	"0"	"70"	"5"	"37182935"	"37182935"	"subst"	"1.22188E-5"	"00000"	"C5orf42_000029"	"g.37182935G>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.5348C>A; p.A1783D"	""	"Germline"	"?"	""	"0"	""	""	"g.37182833G>T"	""	"likely pathogenic"	""
"0000791734"	"0"	"70"	"5"	"37226885"	"37226885"	"del"	"0"	"00000"	"C5orf42_000201"	"g.37226885del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1819del; p.Y607Tfs*6"	"single heterozygous variant, no variant found on second allele"	"Germline"	"?"	""	"0"	""	""	"g.37226783del"	""	"likely pathogenic"	""
"0000791735"	"0"	"70"	"5"	"37244538"	"37244538"	"dup"	"0"	"00000"	"C5orf42_000265"	"g.37244538dup"	""	"{PMID:Brooks 2018:30055837}"	""	"c.510_511insT; p.L171Sfs*8"	""	"Germline"	"?"	""	"0"	""	""	"g.37244436dup"	""	"likely pathogenic"	""
"0000791736"	"3"	"70"	"5"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000008"	"g.37154064_37154065del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.7988_7989del; p.G2663Afs*40"	""	"Germline"	"?"	""	"0"	""	""	"g.37153962_37153963del"	""	"likely pathogenic"	""
"0000791737"	"0"	"70"	"5"	"37157912"	"37157912"	"subst"	"2.44E-5"	"00000"	"C5orf42_000166"	"g.37157912A>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.7817T>A; p.L2606*"	""	"Germline"	"?"	""	"0"	""	""	"g.37157810A>T"	""	"likely pathogenic"	""
"0000791738"	"0"	"70"	"5"	"37206447"	"37206447"	"subst"	"1.32004E-5"	"00000"	"C5orf42_000273"	"g.37206447T>C"	""	"{PMID:Brooks 2018:30055837}"	""	"c.3001A>G; p.T1001A and c.8855+1G>A"	""	"Germline"	"?"	""	"0"	""	""	"g.37206345T>C"	""	"likely pathogenic"	""
"0000791739"	"0"	"70"	"5"	"37206525"	"37206525"	"subst"	"6.62436E-6"	"00000"	"C5orf42_000257"	"g.37206525G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.2923C>T; p.Q975*"	""	"Germline"	"?"	""	"0"	""	""	"g.37206423G>A"	""	"likely pathogenic"	""
"0000791740"	"0"	"70"	"5"	"37168938"	"37168938"	"del"	"0"	"00000"	"C5orf42_000250"	"g.37168938del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.7190del; p.P2397Qfs*37"	""	"Germline"	"?"	""	"0"	""	""	"g.37168836del"	""	"likely pathogenic"	""
"0000791741"	"0"	"70"	"5"	"37168938"	"37168938"	"del"	"0"	"00000"	"C5orf42_000250"	"g.37168938del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.7190del; p.P2397Qfs*37"	""	"Germline"	"?"	""	"0"	""	""	"g.37168836del"	""	"likely pathogenic"	""
"0000791742"	"0"	"70"	"5"	"37221548"	"37221548"	"subst"	"0"	"00000"	"C5orf42_000016"	"g.37221548G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.2624C>T; p.S875F"	""	"Germline"	"?"	""	"0"	""	""	"g.37221446G>A"	""	"likely pathogenic"	""
"0000791743"	"0"	"70"	"5"	"37165697"	"37165697"	"subst"	"5.76692E-5"	"00000"	"C5orf42_000005"	"g.37165697G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.7477C>T; p.R2493*"	""	"Germline"	"?"	""	"0"	""	""	"g.37165595G>A"	""	"likely pathogenic"	""
"0000791744"	"0"	"70"	"5"	"37244592"	"37244592"	"subst"	"0"	"00000"	"C5orf42_000275"	"g.37244592G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.455C>T; p.S152F"	""	"Germline"	"?"	""	"0"	""	""	"g.37244490G>A"	""	"likely pathogenic"	""
"0000791745"	"0"	"70"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00000"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1784T>G; p.L595*"	""	"Germline"	"?"	""	"0"	""	""	"g.37226811A>C"	""	"likely pathogenic"	""
"0000791746"	"0"	"70"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00000"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1784T>G; p.L595*"	""	"Germline"	"?"	""	"0"	""	""	"g.37226811A>C"	""	"likely pathogenic"	""
"0000791822"	"0"	"70"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00000"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1784T>G; p.L595*"	""	"Germline"	"?"	""	"0"	""	""	"g.37226811A>C"	""	"likely pathogenic"	""
"0000791823"	"0"	"70"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.8710C>T; p.R2904*"	""	"Germline"	"?"	""	"0"	""	""	"g.37125330G>A"	""	"likely pathogenic"	""
"0000791824"	"0"	"70"	"5"	"37226885"	"37226885"	"del"	"0"	"00000"	"C5orf42_000201"	"g.37226885del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.1819del; p.Y607Tfs*6"	""	"Germline"	"?"	""	"0"	""	""	"g.37226783del"	""	"likely pathogenic"	""
"0000791825"	"0"	"70"	"5"	"37206449"	"37206449"	"subst"	"1.31999E-5"	"00000"	"C5orf42_000256"	"g.37206449C>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.2999G>T; p.W1000L"	""	"Germline"	"?"	""	"0"	""	""	"g.37206347C>A"	""	"likely pathogenic"	""
"0000791826"	"0"	"70"	"5"	"37122531"	"37122531"	"subst"	"8.15295E-6"	"00000"	"C5orf42_000242"	"g.37122531C>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.8855+1G>A"	""	"Germline"	"?"	""	"0"	""	""	"g.37122429C>T"	""	"likely pathogenic"	""
"0000791827"	"0"	"70"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.8710C>T; p.R2904*"	""	"Germline"	"?"	""	"0"	""	""	"g.37125330G>A"	""	"likely pathogenic"	""
"0000791828"	"0"	"70"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.8710C>T; p.R2904*"	""	"Germline"	"?"	""	"0"	""	""	"g.37125330G>A"	""	"likely pathogenic"	""
"0000791829"	"0"	"70"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Brooks 2018:30055837}"	""	"c.8710C>T; p.R2904*"	""	"Germline"	"?"	""	"0"	""	""	"g.37125330G>A"	""	"likely pathogenic"	""
"0000791830"	"0"	"70"	"5"	"37180117"	"37180117"	"subst"	"5.02871E-6"	"00000"	"C5orf42_000272"	"g.37180117A>G"	""	"{PMID:Brooks 2018:30055837}"	""	"c.5737+2T>C"	""	"Germline"	"?"	""	"0"	""	""	"g.37180015A>G"	""	"likely pathogenic"	""
"0000791831"	"0"	"70"	"5"	"37148325"	"37148325"	"dup"	"0"	"00000"	"C5orf42_000240"	"g.37148325dup"	""	"{PMID:Brooks 2018:30055837}"	""	"c.8263_8264insA; p.T2755Nfs*8"	""	"Germline"	"?"	""	"0"	""	""	"g.37148223dup"	""	"likely pathogenic"	""
"0000791832"	"0"	"70"	"5"	"37224800"	"37224800"	"subst"	"0"	"00000"	"C5orf42_000274"	"g.37224800C>T"	""	"{PMID:Brooks 2018:30055837}"	""	"c.2334G>A; p.W778*"	""	"Germline"	"?"	""	"0"	""	""	"g.37224698C>T"	""	"likely pathogenic"	""
"0000791833"	"0"	"70"	"5"	"37148318"	"37148319"	"ins"	"8.15574E-6"	"00000"	"C5orf42_000247"	"g.37148318_37148319insC"	""	"{PMID:Brooks 2018:30055837}"	""	"c.8263_8264insG; p.T2755Sfs*8"	""	"Germline"	"?"	""	"0"	""	""	"g.37148216_37148217insC"	""	"likely pathogenic"	""
"0000791834"	"0"	"70"	"5"	"37148318"	"37148319"	"ins"	"8.15574E-6"	"00000"	"C5orf42_000247"	"g.37148318_37148319insC"	""	"{PMID:Brooks 2018:30055837}"	""	"c.8263_8264insG; p.T2755Sfs*8"	""	"Germline"	"?"	""	"0"	""	""	"g.37148216_37148217insC"	""	"likely pathogenic"	""
"0000793982"	"0"	"90"	"5"	"37154075"	"37154075"	"subst"	"2.04586E-5"	"00000"	"C5orf42_000007"	"g.37154075G>A"	""	"{PMID:alazami-2012:22693042}"	""	"c.7978C>T"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000793983"	"0"	"90"	"5"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000008"	"g.37154064_37154065delTC"	""	"{PMID:alazami-2012:22693042}"	""	"c.7988_7989delGA"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000793984"	"0"	"90"	"5"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000008"	"g.37154064_37154065delTC"	""	"{PMID:alazami-2012:22693042}"	""	"c.7988_7989delGA"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000802091"	"0"	"50"	"5"	"37122533"	"37122533"	"subst"	"0.000321986"	"01943"	"C5orf42_000276"	"g.37122533T>C"	""	""	""	"CPLANE1(NM_001384732.1):c.9016A>G (p.(Arg3006Gly)), CPLANE1(NM_023073.3):c.8854A>G (p.R2952G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802092"	"0"	"30"	"5"	"37125342"	"37125342"	"subst"	"0.00261401"	"02326"	"C5orf42_000038"	"g.37125342T>G"	""	""	""	"C5orf42(NM_023073.3):c.8796+4A>C, CPLANE1(NM_001384732.1):c.8958+4A>C, CPLANE1(NM_023073.3):c.8796+4A>C, CPLANE1(NM_023073.4):c.8796+4A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802093"	"0"	"30"	"5"	"37138824"	"37138824"	"subst"	"0.00202072"	"02326"	"C5orf42_000163"	"g.37138824G>A"	""	""	""	"C5orf42(NM_023073.3):c.8628C>T (p.S2876=), CPLANE1(NM_023073.3):c.8628C>T (p.S2876=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802094"	"0"	"30"	"5"	"37157484"	"37157484"	"subst"	"0"	"02326"	"C5orf42_000003"	"g.37157484C>T"	""	""	""	"CPLANE1(NM_023073.3):c.7957+288G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802095"	"0"	"50"	"5"	"37157843"	"37157843"	"subst"	"4.87428E-5"	"01943"	"C5orf42_000277"	"g.37157843G>A"	""	""	""	"CPLANE1(NM_023073.3):c.7886C>T (p.S2629L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802096"	"0"	"50"	"5"	"37162641"	"37162641"	"subst"	"0.000183086"	"01943"	"C5orf42_000169"	"g.37162641G>A"	""	""	""	"CPLANE1(NM_023073.3):c.7616C>T (p.A2539V), CPLANE1(NM_023073.4):c.7616C>T (p.A2539V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802097"	"0"	"50"	"5"	"37183491"	"37183491"	"subst"	"8.15268E-6"	"01943"	"C5orf42_000278"	"g.37183491T>C"	""	""	""	"CPLANE1(NM_023073.3):c.4792A>G (p.T1598A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802098"	"0"	"50"	"5"	"37201834"	"37201834"	"subst"	"0"	"01943"	"C5orf42_000279"	"g.37201834A>C"	""	""	""	"CPLANE1(NM_023073.3):c.3366T>G (p.D1122E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000802099"	"0"	"30"	"5"	"37226942"	"37226942"	"subst"	"0.000777874"	"02326"	"C5orf42_000202"	"g.37226942T>C"	""	""	""	"C5orf42(NM_023073.3):c.1755A>G (p.S585=), CPLANE1(NM_023073.3):c.1755A>G (p.S585=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000802100"	"0"	"90"	"5"	"37227813"	"37227813"	"del"	"0"	"02326"	"C5orf42_000280"	"g.37227813del"	""	""	""	"CPLANE1(NM_023073.3):c.1230delC (p.Y411Tfs*25)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000816487"	"0"	"50"	"5"	"37244566"	"37244566"	"subst"	"0"	"00000"	"C5orf42_000283"	"g.37244566A>C"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.481T>G, p.Trp161Gly"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.37244464A>C"	""	"VUS"	""
"0000816488"	"0"	"50"	"5"	"37169047"	"37169047"	"subst"	"1.21843E-5"	"00000"	"C5orf42_000282"	"g.37169047G>A"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.7079C>T, p.Pro2360Leu"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.37168945G>A"	""	"VUS"	""
"0000817931"	"3"	"90"	"5"	"37108554"	"37108555"	"del"	"0"	"00006"	"C5orf42_000281"	"g.37108554_37108555del"	""	"{PMID:Hu 2019:29302074}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37108452_37108453del"	""	"pathogenic (recessive)"	"ACMG"
"0000818169"	"3"	"70"	"5"	"37198899"	"37198899"	"subst"	"8.12189E-6"	"00000"	"C5orf42_000194"	"g.37198899G>A"	""	"{PMID:Enokizono 2017:28431631}"	""	"c.3577C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818170"	"3"	"70"	"5"	"37198899"	"37198899"	"subst"	"8.12189E-6"	"00000"	"C5orf42_000194"	"g.37198899G>A"	""	"{PMID:Enokizono 2017:28431631}"	""	"c.3577C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818171"	"0"	"70"	"5"	"37231104"	"37231104"	"subst"	"0"	"00000"	"C5orf42_000287"	"g.37231104A>G"	""	"{PMID:Enokizono 2017:28431631}"	""	"c.986T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818172"	"0"	"70"	"5"	"37213735"	"37213735"	"subst"	"6.65354E-6"	"00000"	"C5orf42_000286"	"g.37213735T>C"	""	"{PMID:Enokizono 2017:28431631}"	""	"c.2846A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818173"	"0"	"70"	"5"	"37139442"	"37139442"	"subst"	"0"	"00000"	"C5orf42_000284"	"g.37139442C>G"	""	"{PMID:Enokizono 2017:28431631}"	""	"c.8501G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818174"	"0"	"70"	"5"	"37164368"	"37164368"	"subst"	"2.43879E-5"	"00000"	"C5orf42_000285"	"g.37164368T>C"	""	"{PMID:Enokizono 2017:28431631}"	""	"c.7588+7A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818175"	"0"	"70"	"5"	"37198899"	"37198899"	"subst"	"8.12189E-6"	"00000"	"C5orf42_000194"	"g.37198899G>A"	""	"{PMID:Enokizono 2017:28431631}"	""	"c.3577C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818176"	"0"	"70"	"5"	"37198877"	"37198877"	"subst"	"1.62441E-5"	"00000"	"C5orf42_000238"	"g.37198877G>A"	""	"{PMID:Enokizono 2017:28431631}"	""	"c.3599C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000818298"	"0"	"90"	"5"	"37226878"	"37226878"	"del"	"0"	"00000"	"C5orf42_000201"	"g.37226878del"	""	"{PMID:Summers 2017:28497568}"	""	"c.1819del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818303"	"0"	"90"	"5"	"37226878"	"37226878"	"del"	"0"	"00000"	"C5orf42_000201"	"g.37226878del"	""	"{PMID:Summers 2017:28497568}"	""	"c.1819del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818304"	"0"	"90"	"5"	"37157912"	"37157912"	"subst"	"2.44E-5"	"00000"	"C5orf42_000166"	"g.37157912A>T"	""	"{PMID:Summers 2017:28497568}"	""	"c.7817T>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818311"	"0"	"90"	"5"	"37148318"	"37148319"	"ins"	"8.15574E-6"	"00000"	"C5orf42_000247"	"g.37148318_37148319insC"	""	"{PMID:Summers 2017:28497568}"	""	"c.8263_8264insG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818312"	"0"	"90"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00000"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:Summers 2017:28497568}"	""	"c.1784T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818313"	"0"	"90"	"5"	"37148318"	"37148319"	"ins"	"8.15574E-6"	"00000"	"C5orf42_000247"	"g.37148318_37148319insC"	""	"{PMID:Summers 2017:28497568}"	""	"c.8263_8264insG"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818314"	"0"	"90"	"5"	"37226913"	"37226913"	"subst"	"8.68601E-5"	"00000"	"C5orf42_000022"	"g.37226913A>C"	""	"{PMID:Summers 2017:28497568}"	""	"c.1784T>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818317"	"0"	"90"	"5"	"37148319"	"37148319"	"dup"	"0"	"00000"	"C5orf42_000240"	"g.37148319dup"	""	"{PMID:Summers 2017:28497568}"	""	"c.8263dup"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818318"	"0"	"90"	"5"	"37165697"	"37165697"	"subst"	"5.76692E-5"	"00000"	"C5orf42_000005"	"g.37165697G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.7477C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818323"	"0"	"90"	"5"	"37168936"	"37168936"	"del"	"0"	"00000"	"C5orf42_000250"	"g.37168936del"	""	"{PMID:Summers 2017:28497568}"	""	"c.7190del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818324"	"0"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.8710C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818325"	"0"	"90"	"5"	"37168936"	"37168936"	"del"	"0"	"00000"	"C5orf42_000250"	"g.37168936del"	""	"{PMID:Summers 2017:28497568}"	""	"c.7190del"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818326"	"0"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.8710C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818343"	"0"	"90"	"5"	"37244537"	"37244537"	"dup"	"0"	"00000"	"C5orf42_000265"	"g.37244537dup"	""	"{PMID:Summers 2017:28497568}"	""	"c.510dup"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818344"	"0"	"90"	"5"	"37125432"	"37125432"	"subst"	"2.84569E-5"	"00000"	"C5orf42_000010"	"g.37125432G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.8710C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818345"	"0"	"90"	"5"	"37244592"	"37244592"	"subst"	"0"	"00000"	"C5orf42_000275"	"g.37244592G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.455C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818346"	"0"	"90"	"5"	"37224800"	"37224800"	"subst"	"0"	"00000"	"C5orf42_000274"	"g.37224800C>T"	""	"{PMID:Summers 2017:28497568}"	""	"c.2334G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818349"	"0"	"90"	"5"	"37206449"	"37206449"	"subst"	"1.31999E-5"	"00000"	"C5orf42_000256"	"g.37206449C>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.2999G>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818350"	"0"	"90"	"5"	"37206447"	"37206447"	"subst"	"1.32004E-5"	"00000"	"C5orf42_000273"	"g.37206447T>C"	""	"{PMID:Summers 2017:28497568}"	""	"c.3001A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818351"	"0"	"90"	"5"	"37122531"	"37122531"	"subst"	"8.15295E-6"	"00000"	"C5orf42_000242"	"g.37122531C>T"	""	"{PMID:Summers 2017:28497568}"	""	"c.8855+1G>A"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818376"	"0"	"90"	"5"	"37221548"	"37221548"	"subst"	"0"	"00000"	"C5orf42_000016"	"g.37221548G>A"	""	"{PMID:Summers 2017:28497568}"	""	"c.2624C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000818377"	"0"	"90"	"5"	"37180117"	"37180117"	"subst"	"5.02871E-6"	"00000"	"C5orf42_000272"	"g.37180117A>G"	""	"{PMID:Summers 2017:28497568}"	""	"c.5737+2T>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000845902"	"0"	"70"	"5"	"37138913"	"37138913"	"subst"	"1.23054E-5"	"00000"	"C5orf42_000288"	"g.37138913C>T"	""	"{PMID:Kang 2016:27491411}"	""	"C5orf42/JBTS17 c.8539G>A, p.Asp2847Asn"	"single heterozygous variant in a recessive disease; no second causative allele found"	"Unknown"	"?"	""	"0"	""	""	"g.37138811C>T"	""	"likely pathogenic"	""
"0000847315"	"3"	"90"	"6"	"37154075"	"37154075"	"subst"	"0"	"00000"	"C5orf42_000007"	"g.37154075G>A"	""	"{PMID:Alazami 2012:22693042}"	""	"C5ORF42 c.7978C>T, p.R2660X"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.37153973G>A"	""	"pathogenic"	""
"0000847316"	"3"	"90"	"6"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000001"	"g.37154064_37154065del"	""	"{PMID:Alazami 2012:22693042}"	""	"C5ORF42 c.7988_7989delGA, p.G2663AfsX40"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.37153962_37153963del"	""	"pathogenic"	""
"0000847317"	"3"	"90"	"6"	"37154064"	"37154065"	"del"	"0"	"00000"	"C5orf42_000001"	"g.37154064_37154065del"	""	"{PMID:Alazami 2012:22693042}"	""	"C5ORF42 c.7988_7989delGA, p.G2663AfsX40"	"homozygous"	"Germline"	"yes"	""	"0"	""	""	"g.37153962_37153963del"	""	"pathogenic"	""
"0000847509"	"1"	"70"	"5"	"37167312"	"37167312"	"dup"	"0"	"00000"	"C5orf42_000289"	"g.37167312dup"	""	"{PMID:Bai 2020:32335874}"	""	"CPLANE1 c.7243dupA (p.T2415Nfs*7)"	"heterozygous (abstract only-based allele assumption)"	"Unknown"	"?"	""	"0"	""	""	"g.37167210dup"	""	"likely pathogenic"	""
"0000847510"	"2"	"70"	"5"	"37167312"	"37167312"	"dup"	"0"	"00000"	"C5orf42_000289"	"g.37167312dup"	""	"{PMID:Bai 2020:32335874}"	""	"CPLANE1 c.8001delG (p.K2667Nfs*31)"	"heterozygous (abstract only-based allele assumption)"	"Unknown"	"?"	""	"0"	""	""	"g.37167210dup"	""	"likely pathogenic"	""
"0000850901"	"0"	"30"	"5"	"37107791"	"37107791"	"subst"	"8.29421E-6"	"02326"	"C5orf42_000031"	"g.37107791G>A"	""	""	""	"C5orf42(NM_023073.3):c.9507C>T (p.L3169=), CPLANE1(NM_023073.3):c.9507C>T (p.L3169=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850902"	"0"	"50"	"5"	"37108561"	"37108561"	"subst"	"1.22605E-5"	"01943"	"C5orf42_000290"	"g.37108561G>A"	""	""	""	"CPLANE1(NM_023073.3):c.9251C>T (p.P3084L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850903"	"0"	"30"	"5"	"37122575"	"37122575"	"subst"	"0"	"02330"	"C5orf42_000292"	"g.37122575T>G"	""	""	""	"CPLANE1(NM_023073.4):c.8812A>C (p.R2938=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850904"	"0"	"50"	"5"	"37154018"	"37154018"	"subst"	"1.62504E-5"	"01943"	"C5orf42_000295"	"g.37154018G>A"	""	""	""	"CPLANE1(NM_023073.3):c.8035C>T (p.R2679W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850905"	"0"	"30"	"5"	"37154040"	"37154040"	"subst"	"0.000483461"	"02326"	"C5orf42_000212"	"g.37154040T>G"	""	""	""	"C5orf42(NM_023073.3):c.8013A>C (p.A2671=), CPLANE1(NM_023073.3):c.8013A>C (p.A2671=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850906"	"0"	"30"	"5"	"37162661"	"37162661"	"subst"	"0.000391946"	"02326"	"C5orf42_000297"	"g.37162661T>C"	""	""	""	"CPLANE1(NM_023073.3):c.7596A>G (p.L2532=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850907"	"0"	"10"	"5"	"37169221"	"37169221"	"subst"	"0.00161691"	"02326"	"C5orf42_000060"	"g.37169221G>A"	""	""	""	"C5orf42(NM_023073.3):c.6905C>T (p.T2302M, p.(Thr2302Met)), CPLANE1(NM_023073.3):c.6905C>T (p.T2302M), CPLANE1(NM_023073.4):c.6905C>T (p.T2302M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000850908"	"0"	"30"	"5"	"37169579"	"37169579"	"subst"	"0"	"01943"	"C5orf42_000298"	"g.37169579G>T"	""	""	""	"CPLANE1(NM_023073.3):c.6547C>A (p.P2183T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850909"	"0"	"30"	"5"	"37176061"	"37176061"	"subst"	"0.00136739"	"02326"	"C5orf42_000181"	"g.37176061C>T"	""	""	""	"C5orf42(NM_023073.3):c.5928G>A (p.G1976=), CPLANE1(NM_001384732.1):c.5928G>A (p.G1976=), CPLANE1(NM_023073.3):c.5928G>A (p.G1976=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850910"	"0"	"10"	"5"	"37182954"	"37182954"	"subst"	"0.001803"	"02326"	"C5orf42_000080"	"g.37182954C>T"	""	""	""	"C5orf42(NM_023073.3):c.5329G>A (p.V1777I, p.(Val1777Ile)), CPLANE1(NM_023073.3):c.5329G>A (p.V1777I), CPLANE1(NM_023073.4):c.5329G>A (p.V1777I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000850911"	"0"	"30"	"5"	"37183585"	"37183585"	"subst"	"0.00462236"	"02326"	"C5orf42_000085"	"g.37183585T>C"	""	""	""	"CPLANE1(NM_023073.3):c.4698A>G (p.L1566=), CPLANE1(NM_023073.4):c.4698A>G (p.L1566=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850912"	"0"	"50"	"5"	"37184974"	"37184974"	"subst"	"0"	"01943"	"C5orf42_000303"	"g.37184974C>G"	""	""	""	"CPLANE1(NM_023073.3):c.4397G>C (p.G1466A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000850913"	"0"	"10"	"5"	"37185061"	"37185061"	"subst"	"0.00300155"	"02326"	"C5orf42_000089"	"g.37185061A>G"	""	""	""	"CPLANE1(NM_023073.3):c.4310T>C (p.I1437T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000850914"	"0"	"30"	"5"	"37187522"	"37187522"	"subst"	"0.000237417"	"02330"	"C5orf42_000095"	"g.37187522G>A"	""	""	""	"C5orf42(NM_023073.3):c.4074C>T (p.I1358=), CPLANE1(NM_023073.3):c.4074C>T (p.I1358=), CPLANE1(NM_023073.4):c.4074C>T (p.I1358=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850915"	"0"	"30"	"5"	"37243130"	"37243130"	"subst"	"0.000876668"	"02326"	"C5orf42_000209"	"g.37243130A>G"	""	""	""	"C5orf42(NM_023073.3):c.662T>C (p.V221A, p.(Val221Ala)), CPLANE1(NM_023073.3):c.662T>C (p.V221A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000850916"	"0"	"50"	"5"	"37243145"	"37243145"	"subst"	"0"	"01943"	"C5orf42_000307"	"g.37243145C>T"	""	""	""	"CPLANE1(NM_023073.3):c.647G>A (p.R216Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859917"	"0"	"30"	"5"	"37120445"	"37120445"	"subst"	"0"	"01943"	"C5orf42_000291"	"g.37120445A>G"	""	""	""	"CPLANE1(NM_023073.3):c.9024-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859918"	"0"	"30"	"5"	"37148382"	"37148382"	"dup"	"0"	"02330"	"C5orf42_000293"	"g.37148382dup"	""	""	""	"CPLANE1(NM_023073.4):c.8212-7dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859919"	"0"	"30"	"5"	"37148385"	"37148385"	"subst"	"0.00303813"	"02326"	"C5orf42_000294"	"g.37148385C>T"	""	""	""	"CPLANE1(NM_023073.3):c.8212-15G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859920"	"0"	"30"	"5"	"37158374"	"37158374"	"subst"	"4.06174E-5"	"01943"	"C5orf42_000296"	"g.37158374C>T"	""	""	""	"CPLANE1(NM_023073.3):c.7764G>A (p.M2588I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859921"	"0"	"50"	"5"	"37176036"	"37176036"	"subst"	"0"	"01943"	"C5orf42_000299"	"g.37176036C>A"	""	""	""	"CPLANE1(NM_023073.3):c.5953G>T (p.V1985L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859922"	"0"	"50"	"5"	"37183247"	"37183247"	"subst"	"0"	"01943"	"C5orf42_000300"	"g.37183247C>T"	""	""	""	"CPLANE1(NM_023073.3):c.5036G>A (p.G1679D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000859923"	"0"	"30"	"5"	"37183329"	"37183329"	"subst"	"0.000580127"	"02330"	"C5orf42_000301"	"g.37183329G>A"	""	""	""	"CPLANE1(NM_023073.4):c.4954C>T (p.L1652=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859924"	"0"	"30"	"5"	"37183766"	"37183766"	"subst"	"0"	"01943"	"C5orf42_000302"	"g.37183766T>A"	""	""	""	"CPLANE1(NM_023073.3):c.4517A>T (p.H1506L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859925"	"0"	"10"	"5"	"37205466"	"37205466"	"subst"	"0.00311114"	"02326"	"C5orf42_000304"	"g.37205466G>A"	""	""	""	"CPLANE1(NM_023073.3):c.3240C>T (p.A1080=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000859926"	"0"	"10"	"5"	"37226960"	"37226960"	"subst"	"0.00314007"	"02326"	"C5orf42_000305"	"g.37226960C>T"	""	""	""	"CPLANE1(NM_023073.3):c.1737G>A (p.A579=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000859927"	"0"	"30"	"5"	"37227916"	"37227916"	"subst"	"0.00289165"	"02326"	"C5orf42_000306"	"g.37227916T>C"	""	""	""	"CPLANE1(NM_023073.3):c.1125A>G (p.P375=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000881187"	"11"	"90"	"5"	"37226885"	"37226885"	"del"	"0"	"02300"	"C5orf42_000201"	"g.37226885del"	""	"{PMID:Marinakis 2021:34008892}"	""	"c.1819delT"	"ACMG PVS1, PM2, PP3, PP5"	"Germline"	""	"rs777686211"	"0"	""	""	"g.37226783del"	""	"pathogenic (recessive)"	"ACMG"
"0000881343"	"21"	"90"	"5"	"37148325"	"37148325"	"dup"	"0"	"02300"	"C5orf42_000240"	"g.37148325dup"	""	"{PMID:Marinakis 2021:34008892}"	""	"c.8263dupA"	"ACMG PVS1, PM2, PP3, PP5"	"Germline"	""	"rs775263897"	"0"	""	""	"g.37148223dup"	""	"pathogenic (recessive)"	"ACMG"
"0000886823"	"0"	"50"	"5"	"37121809"	"37121811"	"dup"	"0"	"01804"	"C5orf42_000308"	"g.37121809_37121811dup"	""	""	""	"C5orf42(NM_023073.3):c.8934_8935insGTA (p.(Val2978dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000886824"	"0"	"30"	"5"	"37121811"	"37121811"	"subst"	"0.00165692"	"02326"	"C5orf42_000158"	"g.37121811T>C"	""	""	""	"C5orf42(NM_023073.3):c.8931A>G (p.S2977=), CPLANE1(NM_023073.3):c.8931A>G (p.S2977=), CPLANE1(NM_023073.4):c.8931A>G (p.S2977=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886825"	"0"	"30"	"5"	"37125364"	"37125364"	"subst"	"0"	"02330"	"C5orf42_000309"	"g.37125364G>A"	""	""	""	"CPLANE1(NM_023073.4):c.8778C>T (p.F2926=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886826"	"0"	"30"	"5"	"37162641"	"37162641"	"subst"	"0.000183086"	"02326"	"C5orf42_000169"	"g.37162641G>A"	""	""	""	"CPLANE1(NM_023073.3):c.7616C>T (p.A2539V), CPLANE1(NM_023073.4):c.7616C>T (p.A2539V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886827"	"0"	"30"	"5"	"37176061"	"37176061"	"subst"	"0.00136739"	"02330"	"C5orf42_000181"	"g.37176061C>T"	""	""	""	"C5orf42(NM_023073.3):c.5928G>A (p.G1976=), CPLANE1(NM_001384732.1):c.5928G>A (p.G1976=), CPLANE1(NM_023073.3):c.5928G>A (p.G1976=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886828"	"0"	"30"	"5"	"37183564"	"37183564"	"subst"	"0.000834018"	"02326"	"C5orf42_000310"	"g.37183564G>A"	""	""	""	"CPLANE1(NM_023073.3):c.4719C>T (p.D1573=), CPLANE1(NM_023073.4):c.4719C>T (p.D1573=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886829"	"0"	"30"	"5"	"37183766"	"37183766"	"subst"	"0.000898546"	"02326"	"C5orf42_000190"	"g.37183766T>C"	""	""	""	"C5orf42(NM_023073.3):c.4517A>G (p.H1506R, p.(His1506Arg)), CPLANE1(NM_023073.3):c.4517A>G (p.H1506R), CPLANE1(NM_023073.4):c.4517A>G (p.H1506R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886830"	"0"	"30"	"5"	"37186443"	"37186443"	"subst"	"0.00142639"	"02326"	"C5orf42_000093"	"g.37186443A>G"	""	""	""	"CPLANE1(NM_023073.3):c.4134T>C (p.P1378=), CPLANE1(NM_023073.4):c.4134T>C (p.P1378=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886832"	"0"	"30"	"5"	"37201785"	"37201785"	"subst"	"0"	"02330"	"C5orf42_000311"	"g.37201785C>G"	""	""	""	"CPLANE1(NM_023073.4):c.3415G>C (p.D1139H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886833"	"0"	"30"	"5"	"37224335"	"37224335"	"dup"	"0"	"02330"	"C5orf42_000312"	"g.37224335dup"	""	""	""	"CPLANE1(NM_023073.4):c.2581+20dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886834"	"0"	"30"	"5"	"37227905"	"37227905"	"subst"	"0.00176525"	"02330"	"C5orf42_000123"	"g.37227905G>A"	""	""	""	"C5orf42(NM_023073.3):c.1136C>T (p.T379M), CPLANE1(NM_023073.4):c.1136C>T (p.T379M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000886835"	"0"	"90"	"5"	"37244515"	"37244515"	"del"	"0"	"02326"	"C5orf42_000313"	"g.37244515del"	""	""	""	"CPLANE1(NM_023073.3):c.534delA (p.E179Kfs*3)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000886836"	"0"	"30"	"5"	"37245957"	"37245957"	"subst"	"4.24232E-5"	"02330"	"C5orf42_000314"	"g.37245957G>A"	""	""	""	"CPLANE1(NM_023073.4):c.82-10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000904797"	"3"	"70"	"5"	"37167182"	"37167182"	"subst"	"0.000278139"	"00006"	"C5orf42_000174"	"g.37167182G>A"	""	"{PMID:Al-Kasbi 2022:36344539}"	""	"NM_023073.3:c.7367C>T (Pro2456Leu)"	""	"Germline"	""	"rs146595129"	"0"	""	""	"g.37167080G>A"	"VCV001030821.5"	"VUS"	""
"0000912331"	"0"	"50"	"5"	"37142583"	"37142583"	"subst"	"0.000382632"	"02326"	"C5orf42_000020"	"g.37142583C>G"	""	""	""	"C5orf42(NM_023073.3):c.8300-1G>C, CPLANE1(NM_001384732.1):c.8462-1G>C, CPLANE1(NM_023073.3):c.8300-1G>C, CPLANE1(NM_023073.4):c.8300-1G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000912332"	"0"	"30"	"5"	"37183336"	"37183336"	"subst"	"0.00134202"	"02326"	"C5orf42_000315"	"g.37183336T>C"	""	""	""	"CPLANE1(NM_023073.3):c.4947A>G (p.S1649=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912333"	"0"	"30"	"5"	"37183490"	"37183490"	"subst"	"0.00150854"	"02326"	"C5orf42_000084"	"g.37183490G>T"	""	""	""	"C5orf42(NM_023073.3):c.4793C>A (p.T1598K, p.(Thr1598Lys)), CPLANE1(NM_023073.3):c.4793C>A (p.T1598K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912334"	"0"	"30"	"5"	"37183564"	"37183564"	"subst"	"0.000834018"	"02330"	"C5orf42_000310"	"g.37183564G>A"	""	""	""	"CPLANE1(NM_023073.3):c.4719C>T (p.D1573=), CPLANE1(NM_023073.4):c.4719C>T (p.D1573=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912335"	"0"	"30"	"5"	"37183719"	"37183719"	"subst"	"8.19847E-6"	"02326"	"C5orf42_000316"	"g.37183719T>C"	""	""	""	"CPLANE1(NM_023073.3):c.4564A>G (p.T1522A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912336"	"0"	"30"	"5"	"37187522"	"37187522"	"subst"	"0.000237417"	"02326"	"C5orf42_000095"	"g.37187522G>A"	""	""	""	"C5orf42(NM_023073.3):c.4074C>T (p.I1358=), CPLANE1(NM_023073.3):c.4074C>T (p.I1358=), CPLANE1(NM_023073.4):c.4074C>T (p.I1358=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000912337"	"0"	"30"	"5"	"37227455"	"37227455"	"subst"	"0.000370498"	"02326"	"C5orf42_000317"	"g.37227455G>C"	""	""	""	"CPLANE1(NM_023073.3):c.1411C>G (p.L471V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929072"	"0"	"30"	"5"	"37138953"	"37138953"	"subst"	"0.00342775"	"02326"	"C5orf42_000318"	"g.37138953T>A"	""	""	""	"CPLANE1(NM_023073.3):c.8502-3A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929073"	"0"	"30"	"5"	"37164434"	"37164434"	"subst"	"0.000748387"	"02326"	"C5orf42_000319"	"g.37164434A>G"	""	""	""	"CPLANE1(NM_023073.3):c.7534-5T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948553"	"0"	"30"	"5"	"37157424"	"37157424"	"subst"	"0"	"02330"	"C5orf42_000320"	"g.37157424G>A"	""	""	""	"CPLANE1(NM_001384732.1):c.8110C>T (p.Q2704*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948554"	"0"	"30"	"5"	"37157532"	"37157532"	"subst"	"0"	"02330"	"C5orf42_000321"	"g.37157532T>C"	""	""	""	"CPLANE1(NM_001384732.1):c.8012-10A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948555"	"0"	"30"	"5"	"37183243"	"37183243"	"subst"	"0"	"01804"	"C5orf42_000322"	"g.37183243T>A"	""	""	""	"C5orf42(NM_023073.3):c.5040A>T (p.(Leu1680Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948556"	"0"	"30"	"5"	"37183696"	"37183696"	"subst"	"4.08197E-6"	"01804"	"C5orf42_000323"	"g.37183696C>T"	""	""	""	"C5orf42(NM_023073.3):c.4587G>A (p.(Lys1529=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948557"	"0"	"30"	"5"	"37206502"	"37206502"	"subst"	"0"	"02330"	"C5orf42_000324"	"g.37206502C>T"	""	""	""	"CPLANE1(NM_001384732.1):c.2946G>A (p.L982=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000948558"	"0"	"70"	"5"	"37244554"	"37244554"	"del"	"0.000151322"	"01804"	"C5orf42_000012"	"g.37244554del"	""	""	""	"C5orf42(NM_023073.3):c.493del (p.(Ile165TyrfsTer17))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000963604"	"0"	"30"	"5"	"37125346"	"37125346"	"subst"	"0.000131431"	"02326"	"C5orf42_000039"	"g.37125346T>C"	""	""	""	"C5orf42(NM_023073.3):c.8796A>G (p.P2932=), CPLANE1(NM_023073.3):c.8796A>G (p.P2932=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963605"	"0"	"30"	"5"	"37164386"	"37164386"	"subst"	"0"	"01804"	"C5orf42_000325"	"g.37164386T>C"	""	""	""	"C5orf42(NM_023073.3):c.7577A>G (p.(Asp2526Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000963607"	"0"	"90"	"5"	"37170237"	"37170237"	"subst"	"0"	"02326"	"C5orf42_000326"	"g.37170237G>T"	""	""	""	"CPLANE1(NM_023073.3):c.6368C>A (p.S2123*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000976792"	"0"	"90"	"5"	"37206516"	"37206516"	"subst"	"6.59744E-6"	"02329"	"C5orf42_000327"	"g.37206516G>A"	""	""	""	"CPLANE1(NM_001384732.1):c.2932C>T (p.R978*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000976793"	"0"	"50"	"5"	"37230994"	"37230994"	"subst"	"0.000158213"	"01804"	"C5orf42_000220"	"g.37230994G>A"	""	""	""	"C5orf42(NM_023073.3):c.1096C>T (p.P366S), CPLANE1(NM_001384732.1):c.1096C>T (p.(Pro366Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000985107"	"1"	"90"	"5"	"37139483"	"37139484"	"del"	"0"	"04682"	"C5orf42_000328"	"g.37139483_37139484del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"ACMG PVS1; PM2; PS3; PM3; effect on RNA predicted from in vitro mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.37139381_37139382del"	""	"pathogenic"	"ACMG"
"0000985108"	"1"	"90"	"5"	"37213995"	"37213995"	"subst"	"0"	"04682"	"C5orf42_000329"	"g.37213995T>C"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"ACMG PM3, PM2, PS3, PM4"	"Germline"	""	""	"0"	""	""	"g.37213893T>C"	""	"pathogenic"	""
"0000985109"	"1"	"90"	"5"	"37230782"	"37230782"	"subst"	"0"	"04682"	"C5orf42_000330"	"g.37230782T>C"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"ACMG PVS1, PM2, PM3, PP3, PS3; effect on RNA predicted from in vitro mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.37230680T>C"	""	"pathogenic"	""
"0000985152"	"2"	"90"	"5"	"37142476"	"37142476"	"del"	"0"	"04682"	"C5orf42_000331"	"g.37142476del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37142374del"	""	"pathogenic"	""
"0000985153"	"2"	"70"	"5"	"37169426"	"37169426"	"subst"	"4.06293E-6"	"04682"	"C5orf42_000177"	"g.37169426G>A"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37169324G>A"	""	"pathogenic"	""
"0000985154"	"2"	"70"	"5"	"37244554"	"37244554"	"del"	"0.000151322"	"04682"	"C5orf42_000012"	"g.37244554del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	"Ile165AsnfsTer17"	""	"Germline"	""	""	"0"	""	""	"g.37244452del"	""	"pathogenic"	""
"0000995041"	"0"	"50"	"5"	"37153889"	"37153889"	"subst"	"2.0325E-5"	"01804"	"C5orf42_000332"	"g.37153889C>A"	""	""	""	"C5ORF42(NM_023073.3):c.8164G>T (p.(Glu2722*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000995042"	"0"	"30"	"5"	"37157805"	"37157805"	"subst"	"4.06273E-5"	"01804"	"C5orf42_000333"	"g.37157805T>C"	""	""	""	"C5ORF42(NM_023073.3):c.7924A>G (p.(Asn2642Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995043"	"0"	"30"	"5"	"37157828"	"37157828"	"subst"	"4.06187E-5"	"01804"	"C5orf42_000334"	"g.37157828T>C"	""	""	""	"C5ORF42(NM_023073.3):c.7901A>G (p.(His2634Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995044"	"0"	"30"	"5"	"37158331"	"37158331"	"subst"	"4.06405E-6"	"01804"	"C5orf42_000335"	"g.37158331T>A"	""	""	""	"C5ORF42(NM_023073.3):c.7807A>T (p.(Asn2603Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995045"	"0"	"30"	"5"	"37180197"	"37180197"	"subst"	"4.38935E-6"	"01804"	"C5orf42_000336"	"g.37180197T>C"	""	""	""	"C5ORF42(NM_023073.3):c.5659A>G (p.(Ile1887Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000995046"	"0"	"50"	"5"	"37226440"	"37226440"	"subst"	"2.8319E-5"	"01804"	"C5orf42_000337"	"g.37226440G>C"	""	""	""	"C5ORF42(NM_023073.3):c.2257C>G (p.(Gln753Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001014127"	"0"	"90"	"5"	"37148325"	"37148325"	"dup"	"0"	"02329"	"C5orf42_000240"	"g.37148325dup"	""	""	""	"CPLANE1(NM_023073.4):c.8263dupA (p.T2755Nfs*8)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001014128"	"0"	"70"	"5"	"37187899"	"37187899"	"subst"	"1.2197E-5"	"02329"	"C5orf42_000338"	"g.37187899C>T"	""	""	""	"CPLANE1(NM_023073.4):c.3857G>A (p.R1286H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001025099"	"0"	"50"	"5"	"37182862"	"37182862"	"subst"	"0.00707006"	"01943"	"C5orf42_000078"	"g.37182862C>T"	""	""	""	"C5orf42(NM_023073.3):c.5421G>A (p.K1807=, p.(=)), CPLANE1(NM_023073.3):c.5421G>A (p.K1807=), CPLANE1(NM_023073.4):c.5421G>A (p.K1807=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001025100"	"0"	"50"	"5"	"37182954"	"37182954"	"subst"	"0.001803"	"01943"	"C5orf42_000080"	"g.37182954C>T"	""	""	""	"C5orf42(NM_023073.3):c.5329G>A (p.V1777I, p.(Val1777Ile)), CPLANE1(NM_023073.3):c.5329G>A (p.V1777I), CPLANE1(NM_023073.4):c.5329G>A (p.V1777I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035216"	"0"	"50"	"5"	"37122533"	"37122533"	"subst"	"0.000321986"	"01804"	"C5orf42_000276"	"g.37122533T>C"	""	""	""	"CPLANE1(NM_001384732.1):c.9016A>G (p.(Arg3006Gly)), CPLANE1(NM_023073.3):c.8854A>G (p.R2952G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035217"	"0"	"30"	"5"	"37125342"	"37125342"	"subst"	"0.00261401"	"01804"	"C5orf42_000038"	"g.37125342T>G"	""	""	""	"C5orf42(NM_023073.3):c.8796+4A>C, CPLANE1(NM_001384732.1):c.8958+4A>C, CPLANE1(NM_023073.3):c.8796+4A>C, CPLANE1(NM_023073.4):c.8796+4A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035218"	"0"	"50"	"5"	"37184957"	"37184957"	"subst"	"0"	"01804"	"C5orf42_000344"	"g.37184957T>C"	""	""	""	"CPLANE1(NM_001384732.1):c.4414A>G (p.(Ser1472Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035219"	"0"	"50"	"5"	"37184983"	"37184983"	"subst"	"0.000284306"	"01804"	"C5orf42_000345"	"g.37184983G>A"	""	""	""	"CPLANE1(NM_001384732.1):c.4388C>T (p.(Thr1463Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035220"	"0"	"50"	"5"	"37187541"	"37187541"	"subst"	"4.1213E-5"	"01804"	"C5orf42_000346"	"g.37187541A>G"	""	""	""	"CPLANE1(NM_001384732.1):c.4055T>C (p.(Ile1352Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035221"	"0"	"50"	"5"	"37187949"	"37187949"	"subst"	"0.00012331"	"01804"	"C5orf42_000347"	"g.37187949A>C"	""	""	""	"CPLANE1(NM_001384732.1):c.3812-5T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035222"	"0"	"50"	"5"	"37226614"	"37226614"	"subst"	"2.69371E-5"	"01804"	"C5orf42_000348"	"g.37226614C>T"	""	""	""	"CPLANE1(NM_001384732.1):c.2083G>A (p.(Val695Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035223"	"0"	"10"	"5"	"37226961"	"37226961"	"subst"	"0.00125898"	"01804"	"C5orf42_000116"	"g.37226961G>A"	""	""	""	"C5orf42(NM_023073.3):c.1736C>T (p.A579V), CPLANE1(NM_001384732.1):c.1736C>T (p.(Ala579Val)), CPLANE1(NM_023073.4):c.1736C>T (p.A579V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001035224"	"0"	"50"	"5"	"37227722"	"37227722"	"subst"	"1.97571E-5"	"01804"	"C5orf42_000118"	"g.37227722A>G"	""	""	""	"C5orf42(NM_023073.3):c.1319T>C (p.L440P), CPLANE1(NM_001384732.1):c.1319T>C (p.(Leu440Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035225"	"0"	"50"	"5"	"37243203"	"37243203"	"subst"	"0"	"01804"	"C5orf42_000349"	"g.37243203G>A"	""	""	""	"CPLANE1(NM_001384732.1):c.589C>T (p.(Leu197=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044565"	"1"	"90"	"5"	"37183339"	"37183342"	"del"	"0"	"00006"	"C5orf42_000339"	"g.37183339_37183342del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37183237_37183240del"	""	"pathogenic (recessive)"	""
"0001044566"	"2"	"90"	"5"	"37213995"	"37213995"	"subst"	"0"	"00006"	"C5orf42_000329"	"g.37213995T>C"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"ACMG PM3, PM2,; PS3, PM4"	"Germline"	""	""	"0"	""	""	"g.37213893T>C"	""	"pathogenic (recessive)"	"ACMG"
"0001044590"	"11"	"90"	"5"	"37198925"	"37198925"	"subst"	"4.06266E-6"	"00006"	"C5orf42_000340"	"g.37198925C>T"	""	"{PMID:Zhang 2022:35958498}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37198823C>T"	""	"pathogenic (recessive)"	""
"0001044591"	"21"	"90"	"5"	"37187590"	"37187590"	"subst"	"1.23135E-5"	"00006"	"C5orf42_000001"	"g.37187590G>A"	""	"{PMID:Zhang 2022:35958498}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37187488G>A"	""	"pathogenic (recessive)"	""
"0001044592"	"1"	"90"	"5"	"37196095"	"37196095"	"subst"	"3.08006E-5"	"00006"	"C5orf42_000341"	"g.37196095G>A"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.37195993G>A"	""	"pathogenic (recessive)"	""
"0001044593"	"2"	"70"	"5"	"37120317"	"37206528"	"dup"	"0"	"00006"	"C5orf42_000342"	"g.(37115152_37120317)_(37206528_37213660)dup"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	"dup ex17-49"	"88kb duplication"	"Germline"	""	""	"0"	""	""	"g.(37115050_37120215)_(37206426_37213558)dup"	""	"likely pathogenic (recessive)"	""
"0001044594"	"3"	"70"	"5"	"37139483"	"37139484"	"del"	"0"	"00006"	"C5orf42_000328"	"g.37139483_37139484del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"ACMG PVS1; PM2; PS3; PM3; effect on RNA predicted from in vitro mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.37139381_37139382del"	""	"likely pathogenic (recessive)"	""
"0001044595"	"3"	"70"	"5"	"37139483"	"37139484"	"del"	"0"	"00006"	"C5orf42_000328"	"g.37139483_37139484del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"ACMG PVS1; PM2; PS3; PM3; effect on RNA predicted from in vitro mini-gene splicing assay"	"Germline"	""	""	"0"	""	""	"g.37139381_37139382del"	""	"likely pathogenic (recessive)"	""
"0001044596"	"1"	"90"	"5"	"37213995"	"37213995"	"subst"	"0"	"00006"	"C5orf42_000329"	"g.37213995T>C"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	""	"ACMG PM3, PM2, PS3, PM4"	"Germline"	""	""	"0"	""	""	"g.37213893T>C"	""	"pathogenic (recessive)"	""
"0001044598"	"2"	"90"	"5"	"37238958"	"37239972"	"del"	"0"	"00006"	"C5orf42_000343"	"g.(37231152_37238958)_(37239972_37243114)del"	""	"{PMID:D\'Abrusco 2025:39394465}, {DOI:D\'Abrusco 2025:10.1038/s41431-024-01703-x}"	""	"del ex7-8"	""	"Germline"	""	""	"0"	""	""	"g.(37231050_37238856)_(37239870_37243012)del"	""	"likely pathogenic (recessive)"	""


## 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 C5orf42
## Count = 641
"{{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}}"
"0000004124"	"00001675"	"30"	"2920"	"1594"	"2920"	"1594"	"c.2920+1594T>G"	"r.(=)"	"p.(=)"	"16i"
"0000052250"	"00001675"	"70"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	"46"
"0000052251"	"00001675"	"70"	"5314"	"0"	"5314"	"0"	"c.5314A>G"	"r.(?)"	"p.(Ser1772Gly)"	"26"
"0000052252"	"00001675"	"70"	"493"	"0"	"493"	"0"	"c.493del"	"r.(?)"	"p.(Ile165Tyrfs*17)"	"5"
"0000052253"	"00001675"	"70"	"8248"	"0"	"8248"	"0"	"c.8248C>T"	"r.(?)"	"p.(Pro2750Ser)"	"42"
"0000052254"	"00001675"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.?"	"p.?"	""
"0000052255"	"00001675"	"70"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	"46"
"0000052256"	"00001675"	"70"	"3587"	"0"	"3587"	"0"	"c.3587T>G"	"r.(?)"	"p.(Leu1196Arg)"	"20"
"0000052257"	"00001675"	"70"	"6115"	"0"	"6116"	"0"	"c.6115_6116del"	"r.(?)"	"p.(Asp2039Leufs*6)"	"32"
"0000052258"	"00001675"	"70"	"2624"	"0"	"2624"	"0"	"c.2624C>T"	"r.(?)"	"p.(Ser875Phe)"	"15"
"0000052259"	"00001675"	"70"	"8656"	"0"	"8656"	"0"	"c.8656del"	"r.(?)"	"p.(Ser2886Hisfs*15)"	"46"
"0000052394"	"00001675"	"70"	"964"	"0"	"964"	"0"	"c.964T>G"	"r.(?)"	"p.(Trp322Gly)"	"9"
"0000079237"	"00001675"	"00"	"8935"	"0"	"8935"	"0"	"c.8935C>T"	"r.(?)"	"p.(Gln2979*)"	""
"0000079252"	"00001675"	"00"	"8300"	"-1"	"8300"	"-1"	"c.8300-1G>C"	"r.(=)"	"p.(=)"	""
"0000079265"	"00001675"	"00"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	""
"0000079280"	"00001675"	"00"	"2278"	"0"	"2278"	"0"	"c.2278C>T"	"r.(?)"	"p.(Gln760*)"	""
"0000079501"	"00001675"	"00"	"8935"	"0"	"8935"	"0"	"c.8935C>T"	"r.(?)"	"p.(Gln2979*)"	""
"0000079681"	"00001675"	"00"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	""
"0000168711"	"00001675"	"57"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	"23"
"0000168712"	"00001675"	"57"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	"35i"
"0000168713"	"00001675"	"57"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	"35i"
"0000168714"	"00001675"	"57"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.spl"	"p.(=)"	"40i"
"0000168715"	"00001675"	"57"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	"35i"
"0000168716"	"00001675"	"57"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.spl"	"p.(=)"	"40i"
"0000168717"	"00001675"	"57"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	"23"
"0000168718"	"00001675"	"57"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	"35i"
"0000168719"	"00001675"	"57"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	"23"
"0000168720"	"00001675"	"57"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	"35i"
"0000168721"	"00001675"	"57"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	"23"
"0000168722"	"00001675"	"57"	"6407"	"0"	"6407"	"0"	"c.6407del"	"r.(?)"	"p.(Pro2136Hisfs*31)"	"33"
"0000168723"	"00001675"	"57"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	"23"
"0000168724"	"00001675"	"57"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	"35i"
"0000168725"	"00001675"	"57"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.spl"	"p.(=)"	"40i"
"0000168726"	"00001675"	"57"	"7477"	"0"	"7477"	"0"	"c.7477C>T"	"r.(?)"	"p.(Arg2493*)"	"36"
"0000168727"	"00001675"	"57"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	"23"
"0000168728"	"00001675"	"57"	"4804"	"0"	"4804"	"0"	"c.4804C>T"	"r.(?)"	"p.(Arg1602*)"	"26"
"0000168729"	"00001675"	"57"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	"23"
"0000168730"	"00001675"	"57"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.spl"	"p.(=)"	"40i"
"0000168731"	"00001675"	"90"	"7978"	"0"	"7978"	"0"	"c.7978C>T"	"r.(?)"	"p.(Arg2660*)"	"41"
"0000168732"	"00001675"	"90"	"7988"	"0"	"7989"	"0"	"c.7988_7989del"	"r.(?)"	"p.Gly2663Alafs*40"	"41"
"0000168733"	"00001675"	"90"	"493"	"0"	"493"	"0"	"c.493del"	"r.(?)"	"p.(Ile165Tyrfs*17)"	"5"
"0000168734"	"00001675"	"90"	"4643"	"0"	"4643"	"0"	"c.4643A>G"	"r.(?)"	"p.(Asp1548Gly)"	"26"
"0000168735"	"00001675"	"90"	"5733"	"0"	"5733"	"0"	"c.5733T>G"	"r.(?)"	"p.(Tyr1911*)"	"28"
"0000168736"	"00001675"	"90"	"2624"	"0"	"2624"	"0"	"c.2624C>T"	"r.(?)"	"p.(Ser875Phe)"	"15"
"0000168737"	"00001675"	"90"	"4314"	"0"	"4314"	"0"	"c.4314del"	"r.(?)"	"p.(Glu1439Lysfs*19)"	"25"
"0000168738"	"00001675"	"90"	"5348"	"0"	"5348"	"0"	"c.5348C>A"	"r.(?)"	"p.(Ala1783Asp)"	"26"
"0000168739"	"00001675"	"90"	"4314"	"0"	"4314"	"0"	"c.4314del"	"r.(?)"	"p.(Glu1439Lysfs*19)"	"25"
"0000168740"	"00001675"	"90"	"5348"	"0"	"5348"	"0"	"c.5348C>A"	"r.(?)"	"p.(Ala1783Asp)"	"26"
"0000246303"	"00001675"	"10"	"4134"	"0"	"4134"	"0"	"c.4134T>C"	"r.(?)"	"p.(Pro1378=)"	""
"0000246333"	"00001675"	"10"	"7195"	"0"	"7195"	"0"	"c.7195T>C"	"r.(?)"	"p.(Leu2399=)"	""
"0000246334"	"00001675"	"10"	"1902"	"0"	"1902"	"0"	"c.1902T>G"	"r.(?)"	"p.(Leu634=)"	""
"0000246335"	"00001675"	"10"	"1173"	"0"	"1173"	"0"	"c.1173T>G"	"r.(?)"	"p.(Ala391=)"	""
"0000246368"	"00001675"	"10"	"8211"	"15"	"8211"	"15"	"c.8211+15T>G"	"r.(=)"	"p.(=)"	""
"0000246380"	"00001675"	"30"	"5203"	"0"	"5203"	"0"	"c.5203T>G"	"r.(?)"	"p.(Leu1735Val)"	""
"0000246388"	"00001675"	"30"	"7589"	"-18"	"7589"	"-18"	"c.7589-18T>A"	"r.(=)"	"p.(=)"	""
"0000246399"	"00001675"	"50"	"5576"	"0"	"5576"	"0"	"c.5576T>C"	"r.(?)"	"p.(Met1859Thr)"	""
"0000247982"	"00001675"	"10"	"6098"	"0"	"6098"	"0"	"c.6098T>G"	"r.(?)"	"p.(Phe2033Cys)"	""
"0000248018"	"00001675"	"10"	"5901"	"-3"	"5901"	"-3"	"c.5901-3T>C"	"r.spl?"	"p.?"	""
"0000249072"	"00001675"	"10"	"8471"	"-3"	"8471"	"-3"	"c.8471-3del"	"r.spl?"	"p.?"	""
"0000251014"	"00001675"	"10"	"3795"	"0"	"3795"	"0"	"c.3795T>A"	"r.(?)"	"p.(Val1265=)"	""
"0000251352"	"00001675"	"10"	"7690"	"118"	"7690"	"118"	"c.7690+118T>C"	"r.(=)"	"p.(=)"	""
"0000251353"	"00001675"	"10"	"7401"	"-115"	"7401"	"-115"	"c.7401-115T>C"	"r.(=)"	"p.(=)"	""
"0000251354"	"00001675"	"10"	"7234"	"-76"	"7234"	"-76"	"c.7234-76del"	"r.(=)"	"p.(=)"	""
"0000251355"	"00001675"	"10"	"338"	"-86"	"338"	"-86"	"c.338-86T>A"	"r.(=)"	"p.(=)"	""
"0000252545"	"00001675"	"90"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595Ter)"	""
"0000253243"	"00001675"	"10"	"6098"	"0"	"6098"	"0"	"c.6098T>G"	"r.(?)"	"p.(Phe2033Cys)"	""
"0000253279"	"00001675"	"10"	"5901"	"-3"	"5901"	"-3"	"c.5901-3T>C"	"r.spl?"	"p.?"	""
"0000253789"	"00001675"	"10"	"8471"	"-3"	"8471"	"-3"	"c.8471-3del"	"r.spl?"	"p.?"	""
"0000254133"	"00001675"	"30"	"4134"	"0"	"4134"	"0"	"c.4134T>C"	"r.(?)"	"p.(Pro1378=)"	""
"0000256255"	"00001675"	"50"	"1319"	"0"	"1319"	"0"	"c.1319T>C"	"r.(?)"	"p.(Leu440Pro)"	""
"0000263865"	"00001675"	"30"	"9612"	"0"	"9612"	"0"	"c.*18G>T"	"r.(=)"	"p.(=)"	""
"0000263866"	"00001675"	"50"	"1282"	"0"	"1282"	"0"	"c.1282A>G"	"r.(?)"	"p.(Ser428Gly)"	""
"0000263867"	"00001675"	"10"	"1736"	"0"	"1736"	"0"	"c.1736C>T"	"r.(?)"	"p.(Ala579Val)"	""
"0000263869"	"00001675"	"50"	"2938"	"0"	"2938"	"0"	"c.2938A>C"	"r.(?)"	"p.(Ile980Leu)"	""
"0000263870"	"00001675"	"30"	"4123"	"0"	"4123"	"0"	"c.4123G>A"	"r.(?)"	"p.(Val1375Met)"	""
"0000263871"	"00001675"	"50"	"4262"	"0"	"4262"	"0"	"c.4262G>A"	"r.(?)"	"p.(Arg1421His)"	""
"0000263873"	"00001675"	"30"	"4698"	"0"	"4698"	"0"	"c.4698A>G"	"r.(?)"	"p.(Leu1566=)"	""
"0000263874"	"00001675"	"10"	"4986"	"0"	"4986"	"0"	"c.4986A>C"	"r.(?)"	"p.(Gln1662His)"	""
"0000263875"	"00001675"	"10"	"5329"	"0"	"5329"	"0"	"c.5329G>A"	"r.(?)"	"p.(Val1777Ile)"	""
"0000263876"	"00001675"	"10"	"5421"	"0"	"5421"	"0"	"c.5421G>A"	"r.(?)"	"p.(Lys1807=)"	""
"0000263877"	"00001675"	"10"	"5901"	"-8"	"5901"	"-8"	"c.5901-8A>G"	"r.(=)"	"p.(=)"	""
"0000263878"	"00001675"	"30"	"6064"	"0"	"6064"	"0"	"c.6064G>C"	"r.(?)"	"p.(Ala2022Pro)"	""
"0000263879"	"00001675"	"90"	"6115"	"0"	"6116"	"0"	"c.6115_6116del"	"r.(?)"	"p.(Asp2039LeufsTer6)"	""
"0000263880"	"00001675"	"10"	"6860"	"0"	"6860"	"0"	"c.6860G>A"	"r.(?)"	"p.(Ser2287Asn)"	""
"0000263881"	"00001675"	"10"	"6864"	"0"	"6864"	"0"	"c.6864G>A"	"r.(?)"	"p.(Gln2288=)"	""
"0000263882"	"00001675"	"30"	"6905"	"0"	"6905"	"0"	"c.6905C>T"	"r.(?)"	"p.(Thr2302Met)"	""
"0000263883"	"00001675"	"10"	"6906"	"0"	"6906"	"0"	"c.6906G>A"	"r.(?)"	"p.(Thr2302=)"	""
"0000263884"	"00001675"	"10"	"6957"	"0"	"6957"	"0"	"c.6957A>G"	"r.(?)"	"p.(Gln2319=)"	""
"0000263885"	"00001675"	"10"	"7275"	"0"	"7275"	"0"	"c.7275G>A"	"r.(?)"	"p.(Ala2425=)"	""
"0000263886"	"00001675"	"10"	"7957"	"12"	"7957"	"12"	"c.7957+12del"	"r.(=)"	"p.(=)"	""
"0000263887"	"00001675"	"10"	"8124"	"0"	"8124"	"0"	"c.8124C>T"	"r.(?)"	"p.(Asp2708=)"	""
"0000263888"	"00001675"	"30"	"8219"	"0"	"8219"	"0"	"c.8219C>T"	"r.(?)"	"p.(Pro2740Leu)"	""
"0000263889"	"00001675"	"10"	"834"	"15"	"834"	"15"	"c.834+15G>A"	"r.(=)"	"p.(=)"	""
"0000263890"	"00001675"	"10"	"8630"	"6"	"8630"	"6"	"c.8630+6C>T"	"r.(=)"	"p.(=)"	""
"0000263891"	"00001675"	"50"	"8796"	"4"	"8796"	"4"	"c.8796+4A>C"	"r.spl?"	"p.?"	""
"0000263892"	"00001675"	"10"	"9090"	"0"	"9090"	"0"	"c.9090G>A"	"r.(?)"	"p.(Pro3030=)"	""
"0000263893"	"00001675"	"30"	"9148"	"6"	"9148"	"6"	"c.9148+6A>T"	"r.(=)"	"p.(=)"	""
"0000263894"	"00001675"	"50"	"916"	"0"	"916"	"0"	"c.916G>A"	"r.(?)"	"p.(Val306Met)"	""
"0000263895"	"00001675"	"50"	"9292"	"0"	"9292"	"0"	"c.9292G>A"	"r.(?)"	"p.(Gly3098Arg)"	""
"0000266372"	"00001675"	"10"	"5381"	"0"	"5381"	"0"	"c.5381C>T"	"r.(?)"	"p.(Pro1794Leu)"	""
"0000266373"	"00001675"	"10"	"81"	"20"	"81"	"20"	"c.81+20C>T"	"r.(=)"	"p.(=)"	""
"0000266374"	"00001675"	"30"	"8516"	"0"	"8516"	"0"	"c.8516C>T"	"r.(?)"	"p.(Pro2839Leu)"	""
"0000269443"	"00001675"	"10"	"2292"	"-74"	"2292"	"-74"	"c.2292-74del"	"r.(=)"	"p.(=)"	""
"0000269444"	"00001675"	"10"	"2920"	"1064"	"2920"	"1065"	"c.2920+1064_2920+1065del"	"r.(=)"	"p.(=)"	""
"0000269446"	"00001675"	"10"	"2920"	"1845"	"2920"	"1845"	"c.2920+1845G>A"	"r.(=)"	"p.(=)"	""
"0000269447"	"00001675"	"10"	"2920"	"2135"	"2920"	"2135"	"c.2920+2135C>T"	"r.(=)"	"p.(=)"	""
"0000269448"	"00001675"	"10"	"2920"	"3318"	"2920"	"3318"	"c.2920+3318A>G"	"r.(=)"	"p.(=)"	""
"0000269449"	"00001675"	"10"	"2921"	"-3013"	"2921"	"-3013"	"c.2921-3013C>T"	"r.(=)"	"p.(=)"	""
"0000269451"	"00001675"	"10"	"3743"	"0"	"3743"	"0"	"c.3743G>A"	"r.(?)"	"p.(Gly1248Asp)"	""
"0000269452"	"00001675"	"70"	"3998"	"0"	"3998"	"0"	"c.3998C>T"	"r.(?)"	"p.(Pro1333Leu)"	""
"0000269453"	"00001675"	"10"	"4190"	"-10"	"4190"	"-9"	"c.4190-10_4190-9del"	"r.(=)"	"p.(=)"	""
"0000269454"	"00001675"	"10"	"5314"	"0"	"5314"	"0"	"c.5314A>G"	"r.(?)"	"p.(Ser1772Gly)"	""
"0000269455"	"00001675"	"90"	"5348"	"0"	"5348"	"0"	"c.5348C>A"	"r.(?)"	"p.(Ala1783Asp)"	""
"0000269456"	"00001675"	"10"	"5421"	"0"	"5421"	"0"	"c.5421G>A"	"r.(?)"	"p.(Lys1807=)"	""
"0000269457"	"00001675"	"10"	"5512"	"0"	"5512"	"0"	"c.5512A>G"	"r.(?)"	"p.(Thr1838Ala)"	""
"0000269458"	"00001675"	"10"	"5900"	"7"	"5900"	"7"	"c.5900+7G>T"	"r.(=)"	"p.(=)"	""
"0000269459"	"00001675"	"10"	"7690"	"57"	"7690"	"57"	"c.7690+57C>G"	"r.(=)"	"p.(=)"	""
"0000269460"	"00001675"	"10"	"7775"	"0"	"7775"	"0"	"c.7775C>T"	"r.(?)"	"p.(Pro2592Leu)"	""
"0000269461"	"00001675"	"10"	"7957"	"148"	"7957"	"148"	"c.7957+148C>T"	"r.(=)"	"p.(=)"	""
"0000269462"	"00001675"	"10"	"7979"	"0"	"7979"	"0"	"c.7979G>A"	"r.(?)"	"p.(Arg2660Gln)"	""
"0000269463"	"00001675"	"10"	"8182"	"0"	"8182"	"0"	"c.8182C>A"	"r.(?)"	"p.(Pro2728Thr)"	""
"0000269464"	"00001675"	"10"	"8471"	"-36"	"8471"	"-36"	"c.8471-36del"	"r.(=)"	"p.(=)"	""
"0000269465"	"00001675"	"10"	"9184"	"0"	"9184"	"0"	"c.9184G>A"	"r.(?)"	"p.(Gly3062Arg)"	""
"0000272315"	"00001675"	"50"	"1123"	"0"	"1123"	"0"	"c.1123C>T"	"r.(?)"	"p.(Pro375Ser)"	""
"0000272316"	"00001675"	"10"	"1136"	"0"	"1136"	"0"	"c.1136C>T"	"r.(?)"	"p.(Thr379Met)"	""
"0000272317"	"00001675"	"50"	"1222"	"0"	"1222"	"0"	"c.1222C>T"	"r.(?)"	"p.(Arg408Trp)"	""
"0000272318"	"00001675"	"50"	"1312"	"0"	"1312"	"0"	"c.1312C>T"	"r.(?)"	"p.(Leu438Phe)"	""
"0000272319"	"00001675"	"10"	"1736"	"0"	"1736"	"0"	"c.1736C>T"	"r.(?)"	"p.(Ala579Val)"	""
"0000272320"	"00001675"	"30"	"1883"	"0"	"1883"	"0"	"c.1883G>A"	"r.(?)"	"p.(Arg628Lys)"	""
"0000272321"	"00001675"	"50"	"2855"	"0"	"2855"	"0"	"c.2855A>G"	"r.(?)"	"p.(Asn952Ser)"	""
"0000272322"	"00001675"	"30"	"336"	"0"	"336"	"0"	"c.336C>T"	"r.(?)"	"p.(Val112=)"	""
"0000272323"	"00001675"	"30"	"3447"	"0"	"3447"	"0"	"c.3447A>G"	"r.(?)"	"p.(Pro1149=)"	""
"0000272324"	"00001675"	"30"	"3743"	"0"	"3743"	"0"	"c.3743G>A"	"r.(?)"	"p.(Gly1248Asp)"	""
"0000272325"	"00001675"	"30"	"4074"	"0"	"4074"	"0"	"c.4074C>T"	"r.(?)"	"p.(Ile1358=)"	""
"0000272326"	"00001675"	"30"	"4322"	"0"	"4322"	"0"	"c.4322A>G"	"r.(?)"	"p.(Lys1441Arg)"	""
"0000272327"	"00001675"	"30"	"4698"	"0"	"4698"	"0"	"c.4698A>G"	"r.(?)"	"p.(Leu1566=)"	""
"0000272328"	"00001675"	"50"	"474"	"0"	"474"	"0"	"c.474G>A"	"r.(?)"	"p.(Ala158=)"	""
"0000272329"	"00001675"	"50"	"478"	"0"	"478"	"0"	"c.478C>T"	"r.(?)"	"p.(Arg160Trp)"	""
"0000272330"	"00001675"	"50"	"4793"	"0"	"4793"	"0"	"c.4793C>A"	"r.(?)"	"p.(Thr1598Lys)"	""
"0000272331"	"00001675"	"30"	"4986"	"0"	"4986"	"0"	"c.4986A>C"	"r.(?)"	"p.(Gln1662His)"	""
"0000272332"	"00001675"	"30"	"525"	"0"	"525"	"0"	"c.525C>T"	"r.(?)"	"p.(Thr175=)"	""
"0000272333"	"00001675"	"10"	"5381"	"0"	"5381"	"0"	"c.5381C>T"	"r.(?)"	"p.(Pro1794Leu)"	""
"0000272334"	"00001675"	"50"	"5593"	"0"	"5593"	"0"	"c.5593A>C"	"r.(?)"	"p.(Asn1865His)"	""
"0000272335"	"00001675"	"30"	"5738"	"-6"	"5738"	"-6"	"c.5738-6C>T"	"r.(=)"	"p.(=)"	""
"0000272336"	"00001675"	"50"	"5942"	"0"	"5942"	"0"	"c.5942A>T"	"r.(?)"	"p.(Gln1981Leu)"	""
"0000272337"	"00001675"	"50"	"6264"	"0"	"6264"	"0"	"c.6264G>C"	"r.(?)"	"p.(Gln2088His)"	""
"0000272338"	"00001675"	"10"	"6427"	"0"	"6427"	"0"	"c.6427A>G"	"r.(?)"	"p.(Ile2143Val)"	""
"0000272339"	"00001675"	"30"	"6708"	"0"	"6708"	"0"	"c.6708C>T"	"r.(?)"	"p.(Phe2236=)"	""
"0000272340"	"00001675"	"50"	"6804"	"0"	"6804"	"0"	"c.6804A>G"	"r.(?)"	"p.(Gln2268=)"	""
"0000272341"	"00001675"	"30"	"6957"	"0"	"6957"	"0"	"c.6957A>G"	"r.(?)"	"p.(Gln2319=)"	""
"0000272342"	"00001675"	"30"	"8042"	"0"	"8042"	"0"	"c.8042A>T"	"r.(?)"	"p.(Gln2681Leu)"	""
"0000272343"	"00001675"	"10"	"81"	"20"	"81"	"20"	"c.81+20C>T"	"r.(=)"	"p.(=)"	""
"0000272344"	"00001675"	"10"	"8124"	"0"	"8124"	"0"	"c.8124C>T"	"r.(?)"	"p.(Asp2708=)"	""
"0000272345"	"00001675"	"30"	"8182"	"0"	"8182"	"0"	"c.8182C>A"	"r.(?)"	"p.(Pro2728Thr)"	""
"0000272346"	"00001675"	"50"	"8300"	"-1"	"8300"	"-1"	"c.8300-1G>C"	"r.spl?"	"p.?"	""
"0000272348"	"00001675"	"30"	"8678"	"0"	"8678"	"0"	"c.8678G>A"	"r.(?)"	"p.(Arg2893Lys)"	""
"0000272349"	"00001675"	"30"	"8796"	"0"	"8796"	"0"	"c.8796A>G"	"r.(?)"	"p.(Pro2932=)"	""
"0000272350"	"00001675"	"30"	"9507"	"0"	"9507"	"0"	"c.9507C>T"	"r.(?)"	"p.(Leu3169=)"	""
"0000272351"	"00001675"	"50"	"968"	"0"	"968"	"0"	"c.968C>T"	"r.(?)"	"p.(Thr323Met)"	""
"0000330322"	"00001675"	"50"	"8668"	"0"	"8668"	"0"	"c.8668G>C"	"r.(?)"	"p.(Asp2890His)"	""
"0000330324"	"00001675"	"30"	"8182"	"0"	"8182"	"0"	"c.8182C>A"	"r.(?)"	"p.(Pro2728Thr)"	""
"0000330326"	"00001675"	"50"	"7736"	"0"	"7736"	"0"	"c.7736A>G"	"r.(?)"	"p.(Tyr2579Cys)"	""
"0000330329"	"00001675"	"50"	"6264"	"0"	"6264"	"0"	"c.6264G>C"	"r.(?)"	"p.(Gln2088His)"	""
"0000330330"	"00001675"	"50"	"6130"	"0"	"6130"	"0"	"c.6130G>A"	"r.(?)"	"p.(Val2044Ile)"	""
"0000330332"	"00001675"	"30"	"5329"	"0"	"5329"	"0"	"c.5329G>A"	"r.(?)"	"p.(Val1777Ile)"	""
"0000330334"	"00001675"	"50"	"4793"	"0"	"4793"	"0"	"c.4793C>A"	"r.(?)"	"p.(Thr1598Lys)"	""
"0000330339"	"00001675"	"50"	"3131"	"0"	"3131"	"0"	"c.3131G>A"	"r.(?)"	"p.(Arg1044His)"	""
"0000330341"	"00001675"	"50"	"2770"	"0"	"2770"	"0"	"c.2770T>A"	"r.(?)"	"p.(Cys924Ser)"	""
"0000330342"	"00001675"	"30"	"1456"	"0"	"1456"	"0"	"c.1456G>A"	"r.(?)"	"p.(Asp486Asn)"	""
"0000330346"	"00001675"	"50"	"626"	"0"	"626"	"0"	"c.626A>G"	"r.(?)"	"p.(Lys209Arg)"	""
"0000347609"	"00001675"	"50"	"1839"	"0"	"1839"	"0"	"c.1839A>C"	"r.(?)"	"p.(Lys613Asn)"	""
"0000480535"	"00001675"	"70"	"9327"	"0"	"9327"	"0"	"c.9327G>C"	"r.(?)"	"p.(Glu3109Asp)"	""
"0000525599"	"00001675"	"50"	"9292"	"0"	"9292"	"0"	"c.9292G>A"	"r.(?)"	"p.(Gly3098Arg)"	""
"0000525600"	"00001675"	"50"	"9292"	"0"	"9292"	"0"	"c.9292G>A"	"r.(?)"	"p.(Gly3098Arg)"	""
"0000525601"	"00001675"	"30"	"9252"	"0"	"9252"	"0"	"c.9252G>A"	"r.(?)"	"p.(Pro3084=)"	""
"0000525603"	"00001675"	"10"	"9111"	"0"	"9111"	"0"	"c.9111G>A"	"r.(?)"	"p.(Lys3037=)"	""
"0000525604"	"00001675"	"30"	"9101"	"0"	"9101"	"0"	"c.9101A>G"	"r.(?)"	"p.(His3034Arg)"	""
"0000525605"	"00001675"	"90"	"9058"	"0"	"9058"	"0"	"c.9058C>T"	"r.(?)"	"p.(Arg3020Ter)"	""
"0000525606"	"00001675"	"90"	"9058"	"0"	"9058"	"0"	"c.9058C>T"	"r.(?)"	"p.(Arg3020Ter)"	""
"0000525607"	"00001675"	"30"	"8951"	"0"	"8951"	"0"	"c.8951C>A"	"r.(?)"	"p.(Pro2984Gln)"	""
"0000525609"	"00001675"	"50"	"8931"	"0"	"8931"	"0"	"c.8931A>G"	"r.(?)"	"p.(Ser2977=)"	""
"0000525610"	"00001675"	"30"	"8931"	"0"	"8931"	"0"	"c.8931A>G"	"r.(?)"	"p.(Ser2977=)"	""
"0000525611"	"00001675"	"30"	"8901"	"0"	"8901"	"0"	"c.8901C>T"	"r.(?)"	"p.(Tyr2967=)"	""
"0000525612"	"00001675"	"30"	"8796"	"4"	"8796"	"4"	"c.8796+4A>C"	"r.spl?"	"p.?"	""
"0000525613"	"00001675"	"50"	"8746"	"0"	"8746"	"0"	"c.8746G>A"	"r.(?)"	"p.(Ala2916Thr)"	""
"0000525614"	"00001675"	"50"	"8723"	"0"	"8723"	"0"	"c.8723T>C"	"r.(?)"	"p.(Met2908Thr)"	""
"0000525616"	"00001675"	"50"	"8666"	"0"	"8666"	"0"	"c.8666C>T"	"r.(?)"	"p.(Thr2889Ile)"	""
"0000525617"	"00001675"	"30"	"8628"	"0"	"8628"	"0"	"c.8628C>T"	"r.(?)"	"p.(Ser2876=)"	""
"0000525618"	"00001675"	"30"	"8471"	"-3"	"8471"	"-3"	"c.8471-3del"	"r.spl?"	"p.?"	""
"0000525619"	"00001675"	"50"	"8300"	"-1"	"8300"	"-1"	"c.8300-1G>C"	"r.spl?"	"p.?"	""
"0000525620"	"00001675"	"50"	"8300"	"-1"	"8300"	"-1"	"c.8300-1G>C"	"r.spl?"	"p.?"	""
"0000525621"	"00001675"	"30"	"8227"	"0"	"8227"	"0"	"c.8227C>T"	"r.(?)"	"p.(His2743Tyr)"	""
"0000525622"	"00001675"	"30"	"7979"	"0"	"7979"	"0"	"c.7979G>A"	"r.(?)"	"p.(Arg2660Gln)"	""
"0000525623"	"00001675"	"30"	"7867"	"0"	"7867"	"0"	"c.7867G>A"	"r.(?)"	"p.(Asp2623Asn)"	""
"0000525626"	"00001675"	"50"	"7748"	"0"	"7748"	"0"	"c.7748A>T"	"r.(?)"	"p.(Lys2583Met)"	""
"0000525628"	"00001675"	"50"	"7616"	"0"	"7616"	"0"	"c.7616C>T"	"r.(?)"	"p.(Ala2539Val)"	""
"0000525629"	"00001675"	"50"	"7588"	"5"	"7588"	"5"	"c.7588+5G>A"	"r.spl?"	"p.?"	""
"0000525630"	"00001675"	"10"	"7534"	"-5"	"7534"	"-5"	"c.7534-5T>A"	"r.spl?"	"p.?"	""
"0000525631"	"00001675"	"90"	"7412"	"0"	"7412"	"0"	"c.7412del"	"r.(?)"	"p.(Arg2471LysfsTer14)"	""
"0000525632"	"00001675"	"30"	"7400"	"7"	"7400"	"7"	"c.7400+7C>G"	"r.(=)"	"p.(=)"	""
"0000525633"	"00001675"	"10"	"7367"	"0"	"7367"	"0"	"c.7367C>T"	"r.(?)"	"p.(Pro2456Leu)"	""
"0000525634"	"00001675"	"50"	"7367"	"0"	"7367"	"0"	"c.7367C>T"	"r.(?)"	"p.(Pro2456Leu)"	""
"0000525635"	"00001675"	"30"	"7367"	"0"	"7367"	"0"	"c.7367C>T"	"r.(?)"	"p.(Pro2456Leu)"	""
"0000525636"	"00001675"	"50"	"7298"	"0"	"7298"	"0"	"c.7298T>C"	"r.(?)"	"p.(Leu2433Pro)"	""
"0000525637"	"00001675"	"30"	"7298"	"0"	"7298"	"0"	"c.7298T>C"	"r.(?)"	"p.(Leu2433Pro)"	""
"0000525638"	"00001675"	"30"	"7275"	"0"	"7275"	"0"	"c.7275G>A"	"r.(?)"	"p.(Ala2425=)"	""
"0000525639"	"00001675"	"30"	"7275"	"0"	"7275"	"0"	"c.7275G>A"	"r.(?)"	"p.(Ala2425=)"	""
"0000525640"	"00001675"	"10"	"7234"	"-15"	"7234"	"-12"	"c.7234-15_7234-12del"	"r.(=)"	"p.(=)"	""
"0000525641"	"00001675"	"50"	"6905"	"0"	"6905"	"0"	"c.6905C>T"	"r.(?)"	"p.(Thr2302Met)"	""
"0000525642"	"00001675"	"30"	"6905"	"0"	"6905"	"0"	"c.6905C>T"	"r.(?)"	"p.(Thr2302Met)"	""
"0000525643"	"00001675"	"90"	"6700"	"0"	"6700"	"0"	"c.6700C>T"	"r.(?)"	"p.(Gln2234Ter)"	""
"0000525644"	"00001675"	"10"	"6654"	"0"	"6654"	"0"	"c.6654A>G"	"r.(?)"	"p.(Thr2218=)"	""
"0000525645"	"00001675"	"10"	"6443"	"0"	"6443"	"0"	"c.6443A>G"	"r.(?)"	"p.(Asn2148Ser)"	""
"0000525646"	"00001675"	"30"	"6427"	"0"	"6427"	"0"	"c.6427A>G"	"r.(?)"	"p.(Ile2143Val)"	""
"0000525647"	"00001675"	"50"	"6410"	"0"	"6410"	"0"	"c.6410A>G"	"r.(?)"	"p.(His2137Arg)"	""
"0000525648"	"00001675"	"30"	"5928"	"0"	"5928"	"0"	"c.5928G>A"	"r.(?)"	"p.(Gly1976=)"	""
"0000525649"	"00001675"	"10"	"5820"	"7"	"5820"	"7"	"c.5820+7C>T"	"r.(=)"	"p.(=)"	""
"0000525650"	"00001675"	"30"	"5738"	"-6"	"5738"	"-6"	"c.5738-6C>T"	"r.(=)"	"p.(=)"	""
"0000525651"	"00001675"	"30"	"5683"	"0"	"5683"	"0"	"c.5683G>C"	"r.(?)"	"p.(Glu1895Gln)"	""
"0000525652"	"00001675"	"50"	"5579"	"0"	"5579"	"0"	"c.5579C>T"	"r.(?)"	"p.(Pro1860Leu)"	""
"0000525653"	"00001675"	"30"	"5493"	"0"	"5493"	"0"	"c.5493C>T"	"r.(?)"	"p.(Gly1831=)"	""
"0000525654"	"00001675"	"30"	"5421"	"0"	"5421"	"0"	"c.5421G>A"	"r.(?)"	"p.(Lys1807=)"	""
"0000525655"	"00001675"	"30"	"5402"	"0"	"5402"	"0"	"c.5402C>A"	"r.(?)"	"p.(Ala1801Glu)"	""
"0000525656"	"00001675"	"30"	"5401"	"0"	"5401"	"0"	"c.5401G>A"	"r.(?)"	"p.(Ala1801Thr)"	""
"0000525658"	"00001675"	"50"	"4633"	"0"	"4633"	"0"	"c.4633C>T"	"r.(?)"	"p.(Arg1545Cys)"	""
"0000525659"	"00001675"	"10"	"4517"	"0"	"4517"	"0"	"c.4517A>G"	"r.(?)"	"p.(His1506Arg)"	""
"0000525660"	"00001675"	"30"	"4517"	"0"	"4517"	"0"	"c.4517A>G"	"r.(?)"	"p.(His1506Arg)"	""
"0000525661"	"00001675"	"50"	"4497"	"0"	"4497"	"0"	"c.4497C>G"	"r.(?)"	"p.(His1499Gln)"	""
"0000525663"	"00001675"	"50"	"4246"	"0"	"4246"	"0"	"c.4246G>A"	"r.(?)"	"p.(Val1416Met)"	""
"0000525665"	"00001675"	"50"	"3595"	"0"	"3595"	"0"	"c.3595C>T"	"r.(?)"	"p.(Arg1199Trp)"	""
"0000525666"	"00001675"	"70"	"3577"	"0"	"3577"	"0"	"c.3577C>T"	"r.(?)"	"p.(Arg1193Cys)"	""
"0000525667"	"00001675"	"10"	"3508"	"-19"	"3508"	"-19"	"c.3508-19A>G"	"r.(=)"	"p.(=)"	""
"0000525668"	"00001675"	"10"	"3508"	"-85"	"3508"	"-85"	"c.3508-85dup"	"r.(=)"	"p.(=)"	""
"0000525669"	"00001675"	"50"	"3100"	"0"	"3100"	"0"	"c.3100A>G"	"r.(?)"	"p.(Ile1034Val)"	""
"0000525670"	"00001675"	"10"	"2920"	"1067"	"2920"	"1068"	"c.2920+1067_2920+1068insA"	"r.(=)"	"p.(=)"	""
"0000525671"	"00001675"	"10"	"2427"	"0"	"2427"	"0"	"c.2427A>G"	"r.(?)"	"p.(Leu809=)"	""
"0000525672"	"00001675"	"30"	"2078"	"0"	"2078"	"0"	"c.2078A>G"	"r.(?)"	"p.(Lys693Arg)"	""
"0000525674"	"00001675"	"30"	"1755"	"0"	"1755"	"0"	"c.1755A>G"	"r.(?)"	"p.(Ser585=)"	""
"0000525675"	"00001675"	"30"	"1697"	"0"	"1697"	"0"	"c.1697T>C"	"r.(?)"	"p.(Ile566Thr)"	""
"0000525676"	"00001675"	"50"	"1597"	"0"	"1597"	"0"	"c.1597G>C"	"r.(?)"	"p.(Asp533His)"	""
"0000525678"	"00001675"	"30"	"1456"	"0"	"1456"	"0"	"c.1456G>A"	"r.(?)"	"p.(Asp486Asn)"	""
"0000525680"	"00001675"	"30"	"1116"	"0"	"1116"	"0"	"c.1116G>T"	"r.(?)"	"p.(Thr372=)"	""
"0000525681"	"00001675"	"30"	"692"	"0"	"692"	"0"	"c.692A>G"	"r.(?)"	"p.(His231Arg)"	""
"0000525682"	"00001675"	"30"	"692"	"0"	"692"	"0"	"c.692A>G"	"r.(?)"	"p.(His231Arg)"	""
"0000525683"	"00001675"	"10"	"663"	"0"	"663"	"0"	"c.663A>G"	"r.(?)"	"p.(Val221=)"	""
"0000525684"	"00001675"	"30"	"662"	"0"	"662"	"0"	"c.662T>C"	"r.(?)"	"p.(Val221Ala)"	""
"0000525685"	"00001675"	"30"	"662"	"0"	"662"	"0"	"c.662T>C"	"r.(?)"	"p.(Val221Ala)"	""
"0000525686"	"00001675"	"30"	"626"	"0"	"626"	"0"	"c.626A>G"	"r.(?)"	"p.(Lys209Arg)"	""
"0000525687"	"00001675"	"50"	"474"	"0"	"474"	"0"	"c.474G>A"	"r.(?)"	"p.(Ala158=)"	""
"0000525688"	"00001675"	"30"	"118"	"0"	"118"	"0"	"c.118A>G"	"r.(?)"	"p.(Ile40Val)"	""
"0000609708"	"00001675"	"50"	"8549"	"0"	"8549"	"0"	"c.8549A>G"	"r.(?)"	"p.(Asp2850Gly)"	""
"0000609709"	"00001675"	"30"	"8013"	"0"	"8013"	"0"	"c.8013A>C"	"r.(?)"	"p.(Ala2671=)"	""
"0000609710"	"00001675"	"50"	"7588"	"3"	"7588"	"3"	"c.7588+3A>T"	"r.spl?"	"p.?"	""
"0000609711"	"00001675"	"30"	"6172"	"-8"	"6172"	"-8"	"c.6172-8T>C"	"r.(=)"	"p.(=)"	""
"0000609712"	"00001675"	"30"	"5649"	"0"	"5649"	"0"	"c.5649A>G"	"r.(?)"	"p.(Lys1883=)"	""
"0000609713"	"00001675"	"30"	"4517"	"0"	"4517"	"0"	"c.4517A>G"	"r.(?)"	"p.(His1506Arg)"	""
"0000609714"	"00001675"	"30"	"4482"	"-4"	"4482"	"-4"	"c.4482-4A>G"	"r.spl?"	"p.?"	""
"0000609715"	"00001675"	"50"	"1811"	"0"	"1811"	"0"	"c.1811A>T"	"r.(?)"	"p.(His604Leu)"	""
"0000609716"	"00001675"	"50"	"1271"	"0"	"1271"	"0"	"c.1271G>A"	"r.(?)"	"p.(Arg424Gln)"	""
"0000609717"	"00001675"	"50"	"1096"	"0"	"1096"	"0"	"c.1096C>T"	"r.(?)"	"p.(Pro366Ser)"	""
"0000621568"	"00001675"	"30"	"4403"	"0"	"4403"	"0"	"c.4403C>G"	"r.(?)"	"p.(Ser1468Cys)"	""
"0000621569"	"00001675"	"30"	"626"	"0"	"626"	"0"	"c.626A>G"	"r.(?)"	"p.(Lys209Arg)"	""
"0000651717"	"00001675"	"30"	"8607"	"0"	"8607"	"0"	"c.8607A>G"	"r.(=)"	"p.(=)"	""
"0000651718"	"00001675"	"30"	"5314"	"0"	"5314"	"0"	"c.5314A>G"	"r.(?)"	"p.(Ser1772Gly)"	""
"0000651719"	"00001675"	"50"	"4306"	"0"	"4306"	"0"	"c.4306C>T"	"r.(?)"	"p.(Pro1436Ser)"	""
"0000651720"	"00001675"	"70"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000651721"	"00001675"	"50"	"3743"	"0"	"3743"	"0"	"c.3743G>A"	"r.(?)"	"p.(Gly1248Asp)"	""
"0000651722"	"00001675"	"30"	"1736"	"0"	"1736"	"0"	"c.1736C>T"	"r.(?)"	"p.(Ala579Val)"	""
"0000651723"	"00001675"	"50"	"968"	"0"	"968"	"0"	"c.968C>T"	"r.(?)"	"p.(Thr323Met)"	""
"0000651724"	"00001675"	"50"	"608"	"0"	"608"	"0"	"c.608A>G"	"r.(?)"	"p.(Tyr203Cys)"	""
"0000655380"	"00001675"	"30"	"6602"	"0"	"6602"	"0"	"c.6602C>A"	"r.(?)"	"p.(Ser2201Tyr)"	""
"0000655381"	"00001675"	"30"	"1173"	"0"	"1173"	"0"	"c.1173T>G"	"r.(?)"	"p.(Ala391=)"	""
"0000669849"	"00001675"	"50"	"3743"	"0"	"3743"	"0"	"c.3743G>A"	"r.(?)"	"p.(Gly1248Asp)"	""
"0000677509"	"00001675"	"30"	"8432"	"0"	"8432"	"0"	"c.8432G>A"	"r.(?)"	"p.(Ser2811Asn)"	""
"0000677510"	"00001675"	"50"	"8300"	"-1"	"8300"	"-1"	"c.8300-1G>C"	"r.spl?"	"p.?"	""
"0000677511"	"00001675"	"30"	"7812"	"0"	"7812"	"0"	"c.7812G>T"	"r.(?)"	"p.(Leu2604Phe)"	""
"0000683624"	"00001675"	"90"	"2033"	"0"	"2033"	"0"	"c.2033del"	"r.(?)"	"p.(Gly678ValfsTer9)"	""
"0000683625"	"00001675"	"50"	"5545"	"0"	"5545"	"0"	"c.5545A>T"	"r.(?)"	"p.(Asn1849Tyr)"	""
"0000689515"	"00001675"	"90"	"9507"	"0"	"9508"	"0"	"c.9507_9508dup"	"r.(?)"	"p.(Ser3170ThrfsTer49)"	""
"0000689516"	"00001675"	"30"	"7578"	"0"	"7578"	"0"	"c.7578C>T"	"r.(?)"	"p.(Asp2526=)"	""
"0000689517"	"00001675"	"90"	"3213"	"0"	"3213"	"0"	"c.3213del"	"r.(?)"	"p.(Lys1071AsnfsTer6)"	""
"0000689518"	"00001675"	"90"	"1819"	"0"	"1819"	"0"	"c.1819del"	"r.(?)"	"p.(Tyr607ThrfsTer6)"	""
"0000720422"	"00001675"	"30"	"9148"	"6"	"9148"	"6"	"c.9148+6A>T"	"r.(=)"	"p.(=)"	""
"0000720423"	"00001675"	"70"	"8300"	"-1"	"8300"	"-1"	"c.8300-1G>C"	"r.spl?"	"p.?"	""
"0000720424"	"00001675"	"50"	"8152"	"0"	"8152"	"0"	"c.8152G>A"	"r.(?)"	"p.(Ala2718Thr)"	""
"0000720425"	"00001675"	"90"	"7817"	"0"	"7817"	"0"	"c.7817T>A"	"r.(?)"	"p.(Leu2606Ter)"	""
"0000720426"	"00001675"	"30"	"6654"	"0"	"6654"	"0"	"c.6654A>G"	"r.(?)"	"p.(Thr2218=)"	""
"0000720427"	"00001675"	"50"	"6382"	"0"	"6382"	"0"	"c.6382G>A"	"r.(?)"	"p.(Ala2128Thr)"	""
"0000720428"	"00001675"	"50"	"6301"	"0"	"6301"	"0"	"c.6301A>G"	"r.(?)"	"p.(Arg2101Gly)"	""
"0000720429"	"00001675"	"50"	"4787"	"0"	"4787"	"0"	"c.4787T>C"	"r.(?)"	"p.(Val1596Ala)"	""
"0000720430"	"00001675"	"70"	"4482"	"-1"	"4482"	"-1"	"c.4482-1G>T"	"r.spl?"	"p.?"	""
"0000720431"	"00001675"	"30"	"2427"	"0"	"2427"	"0"	"c.2427A>G"	"r.(?)"	"p.(Leu809=)"	""
"0000720432"	"00001675"	"50"	"2185"	"0"	"2185"	"0"	"c.2185A>G"	"r.(?)"	"p.(Ile729Val)"	""
"0000720433"	"00001675"	"30"	"1902"	"0"	"1902"	"0"	"c.1902T>G"	"r.(?)"	"p.(Leu634=)"	""
"0000720434"	"00001675"	"50"	"1181"	"0"	"1181"	"0"	"c.1181G>T"	"r.(?)"	"p.(Ser394Ile)"	""
"0000759761"	"00001675"	"90"	"3577"	"0"	"3577"	"0"	"c.3577C>T"	"r.(?)"	"p.(Arg1193Cys)"	""
"0000759775"	"00001675"	"90"	"3557"	"0"	"3557"	"0"	"c.3557del"	"r.(?)"	"p.(Lys1186ArgfsTer22)"	""
"0000759786"	"00001675"	"90"	"4162"	"0"	"4162"	"0"	"c.4162C>G"	"r.(?)"	"p.(Gln1388Glu)"	""
"0000759798"	"00001675"	"90"	"3599"	"0"	"3599"	"0"	"c.3599C>T"	"r.(?)"	"p.(Ala1200Val)"	""
"0000763552"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000765663"	"00001675"	"90"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	""
"0000765664"	"00001675"	"90"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	""
"0000765665"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765666"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765667"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765668"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765669"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765670"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765671"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765672"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765673"	"00001675"	"90"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.(?)"	"p.(=)"	""
"0000765674"	"00001675"	"90"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	""
"0000765675"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765676"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765677"	"00001675"	"90"	"6354"	"0"	"6354"	"0"	"c.6354dup"	"r.(?)"	"p.(Ile2119TyrfsTer2)"	""
"0000765678"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765679"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000765707"	"00001675"	"90"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.(?)"	"p.(=)"	""
"0000765708"	"00001675"	"90"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.(?)"	"p.(=)"	""
"0000765709"	"00001675"	"90"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	""
"0000765710"	"00001675"	"90"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	""
"0000765711"	"00001675"	"90"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	""
"0000765712"	"00001675"	"90"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.(?)"	"p.(=)"	""
"0000765713"	"00001675"	"90"	"6407"	"0"	"6407"	"0"	"c.6407del"	"r.(?)"	"p.(Pro2136HisfsTer31)"	""
"0000765714"	"00001675"	"90"	"6407"	"0"	"6407"	"0"	"c.6407del"	"r.(?)"	"p.(Pro2136HisfsTer31)"	""
"0000765715"	"00001675"	"90"	"4804"	"0"	"4804"	"0"	"c.4804C>T"	"r.(?)"	"p.(Arg1602Ter)"	""
"0000765716"	"00001675"	"90"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	""
"0000765717"	"00001675"	"90"	"7477"	"0"	"7477"	"0"	"c.7477C>T"	"r.(?)"	"p.(Arg2493Ter)"	""
"0000765718"	"00001675"	"90"	"8263"	"0"	"8263"	"0"	"c.8263dup"	"r.(?)"	"p.(Thr2755AsnfsTer8)"	""
"0000765719"	"00001675"	"90"	"7400"	"1"	"7400"	"1"	"c.7400+1G>A"	"r.spl"	"p.?"	""
"0000765720"	"00001675"	"90"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.(?)"	"p.(=)"	""
"0000783356"	"00001675"	"90"	"8724"	"0"	"8724"	"0"	"c.8724del"	"r.(?)"	"p.(Ala2909Glnfs*4)"	""
"0000783357"	"00001675"	"90"	"8167"	"0"	"8167"	"0"	"c.8167C>T"	"r.(?)"	"p.(Gln2723*)"	""
"0000783358"	"00001675"	"90"	"493"	"0"	"493"	"0"	"c.493del"	"r.(?)"	"p.(Ile165Tyrfs*17)"	""
"0000783359"	"00001675"	"90"	"8716"	"0"	"8716"	"0"	"c.8716G>T"	"r.(?)"	"p.(Glu2906*)"	""
"0000783360"	"00001675"	"90"	"8855"	"1"	"8855"	"1"	"c.8855+1G>A"	"r.spl?"	"p.?"	""
"0000783361"	"00001675"	"90"	"7477"	"0"	"7477"	"0"	"c.7477C>T"	"r.(?)"	"p.(Arg2493*)"	""
"0000783362"	"00001675"	"90"	"7477"	"0"	"7477"	"0"	"c.7477C>T"	"r.(?)"	"p.(Arg2493*)"	""
"0000783363"	"00001675"	"90"	"8263"	"0"	"8264"	"0"	"c.8263_8264insG"	"r.(?)"	"p.(Thr2755Serfs*8)"	""
"0000783364"	"00001675"	"90"	"8263"	"0"	"8264"	"0"	"c.8263_8264insG"	"r.(?)"	"p.(Thr2755Serfs*8)"	""
"0000783365"	"00001675"	"90"	"8263"	"0"	"8264"	"0"	"c.8263_8264insG"	"r.(?)"	"p.(Thr2755Serfs*8)"	""
"0000783366"	"00001675"	"90"	"7978"	"0"	"7978"	"0"	"c.7978C>T"	"r.(?)"	"p.(Arg2660*)"	""
"0000783367"	"00001675"	"90"	"7978"	"0"	"7978"	"0"	"c.7978C>T"	"r.(?)"	"p.(Arg2660*)"	""
"0000783368"	"00001675"	"90"	"8608"	"0"	"8608"	"0"	"c.8608G>T"	"r.(?)"	"p.(Glu2870*)"	""
"0000783369"	"00001675"	"90"	"7188"	"0"	"7188"	"0"	"c.7188del"	"r.(?)"	"p.(Pro2397Glnfs*37)"	""
"0000783370"	"00001675"	"90"	"7188"	"0"	"7188"	"0"	"c.7188del"	"r.(?)"	"p.(Pro2397Glnfs*37)"	""
"0000783371"	"00001675"	"90"	"9058"	"0"	"9058"	"0"	"c.9058C>T"	"r.(?)"	"p.(Arg3020*)"	""
"0000783372"	"00001675"	"90"	"8257"	"0"	"8257"	"0"	"c.8257dup"	"r.(?)"	"p.(Thr2755Asnfs*8)"	""
"0000783373"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000783374"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000783375"	"00001675"	"90"	"3631"	"0"	"3632"	"0"	"c.3631_3632del"	"r.(?)"	"p.(Leu1213Alafs*30)"	""
"0000783376"	"00001675"	"90"	"493"	"0"	"493"	"0"	"c.493del"	"r.(?)"	"p.(Ile165Tyrfs*17)"	""
"0000783377"	"00001675"	"90"	"7988"	"0"	"7989"	"0"	"c.7988_7989del"	"r.(?)"	"p.(Gly2663Alafs*40)"	""
"0000783378"	"00001675"	"90"	"2275"	"0"	"2275"	"0"	"c.2275C>T"	"r.(?)"	"p.(Gln759*)"	""
"0000783379"	"00001675"	"90"	"7778"	"0"	"7778"	"0"	"c.7778G>A"	"r.(?)"	"p.(Trp2593*)"	""
"0000783380"	"00001675"	"90"	"7778"	"0"	"7778"	"0"	"c.7778G>A"	"r.(?)"	"p.(Trp2593*)"	""
"0000783381"	"00001675"	"90"	"7477"	"0"	"7477"	"0"	"c.7477C>T"	"r.(?)"	"p.(Arg2493*)"	""
"0000783382"	"00001675"	"90"	"7817"	"0"	"7817"	"0"	"c.7817T>A"	"r.(?)"	"p.(Leu2606*)"	""
"0000783383"	"00001675"	"90"	"7988"	"0"	"7989"	"0"	"c.7988_7989del"	"r.(?)"	"p.(Gly2663Alafs*40)"	""
"0000783384"	"00001675"	"90"	"509"	"0"	"509"	"0"	"c.509dup"	"r.(?)"	"p.(Leu171Serfs*8)"	""
"0000783385"	"00001675"	"90"	"7988"	"0"	"7989"	"0"	"c.7988_7989del"	"r.(?)"	"p.(Gly2663Alafs*40)"	""
"0000783386"	"00001675"	"90"	"7988"	"0"	"7989"	"0"	"c.7988_7989del"	"r.(?)"	"p.(Gly2663Alafs*40)"	""
"0000783387"	"00001675"	"90"	"7778"	"0"	"7778"	"0"	"c.7778G>A"	"r.(?)"	"p.(Trp2593*)"	""
"0000783388"	"00001675"	"90"	"3130"	"0"	"3131"	"0"	"c.3130_3131insA"	"r.(?)"	"p.(Arg1044Glnfs*2)"	""
"0000783389"	"00001675"	"90"	"3631"	"0"	"3632"	"0"	"c.3631_3632del"	"r.(?)"	"p.(Leu1213Alafs*30)"	""
"0000783390"	"00001675"	"90"	"509"	"0"	"509"	"0"	"c.509del"	"r.(?)"	"p.(Leu171Serfs*11)"	""
"0000783391"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000783392"	"00001675"	"90"	"6267"	"0"	"6268"	"0"	"c.6267_6268del"	"r.(?)"	"p.(Val2090Alafs*15)"	""
"0000783581"	"00001675"	"70"	"7978"	"0"	"7978"	"0"	"c.7978C>T"	"r.(?)"	"p.(Arg2660*)"	""
"0000783616"	"00001675"	"90"	"493"	"0"	"493"	"0"	"c.493del"	"r.(?)"	"p.(Ile165Tyrfs*17)"	""
"0000783617"	"00001675"	"90"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	""
"0000783618"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000783619"	"00001675"	"90"	"3007"	"0"	"3007"	"0"	"c.3007G>T"	"r.(?)"	"p.(Glu1003*)"	""
"0000783620"	"00001675"	"90"	"2999"	"0"	"2999"	"0"	"c.2999G>T"	"r.(?)"	"p.(Trp1000Leu)"	""
"0000783621"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000783622"	"00001675"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0000783623"	"00001675"	"90"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	""
"0000783624"	"00001675"	"90"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	""
"0000783625"	"00001675"	"90"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	""
"0000783626"	"00001675"	"90"	"2377"	"0"	"2377"	"0"	"c.2377C>T"	"r.(?)"	"p.(Gln793*)"	""
"0000783627"	"00001675"	"90"	"2377"	"0"	"2377"	"0"	"c.2377C>T"	"r.(?)"	"p.(Gln793*)"	""
"0000783628"	"00001675"	"90"	"2353"	"0"	"2353"	"0"	"c.2353C>T"	"r.(?)"	"p.(Arg785*)"	""
"0000783629"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000783630"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000783631"	"00001675"	"90"	"2709"	"0"	"2709"	"0"	"c.2709G>A"	"r.(?)"	"p.(Trp903*)"	""
"0000783632"	"00001675"	"90"	"7477"	"0"	"7477"	"0"	"c.7477C>T"	"r.(?)"	"p.(Arg2493*)"	""
"0000783633"	"00001675"	"90"	"2831"	"0"	"2831"	"0"	"c.2831G>A"	"r.(?)"	"p.(Arg944His)"	""
"0000783634"	"00001675"	"90"	"2923"	"0"	"2923"	"0"	"c.2923C>T"	"r.(?)"	"p.(Gln975*)"	""
"0000783635"	"00001675"	"90"	"8855"	"1"	"8855"	"1"	"c.8855+1G>T"	"r.spl?"	"p.?"	""
"0000783636"	"00001675"	"90"	"968"	"0"	"968"	"0"	"c.968C>T"	"r.(?)"	"p.(Thr323Met)"	""
"0000783637"	"00001675"	"90"	"2611"	"0"	"2611"	"0"	"c.2611C>T"	"r.(?)"	"p.(Arg871Cys)"	""
"0000783638"	"00001675"	"90"	"1812"	"0"	"1812"	"0"	"c.1812del"	"r.(?)"	"p.(Tyr607Thrfs*6)"	""
"0000783639"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000783640"	"00001675"	"90"	"3599"	"0"	"3599"	"0"	"c.3599C>T"	"r.(?)"	"p.(Ala1200Val)"	""
"0000783641"	"00001675"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Glu142Lys)"	""
"0000783642"	"00001675"	"90"	"817"	"0"	"817"	"0"	"c.817A>C"	"r.(?)"	"p.(Asn273His)"	""
"0000783643"	"00001675"	"90"	"2275"	"0"	"2275"	"0"	"c.2275C>T"	"r.(?)"	"p.(Gln759*)"	""
"0000783644"	"00001675"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Glu142Lys)"	""
"0000783753"	"00001675"	"70"	"3828"	"0"	"3828"	"0"	"c.3828T>C"	"r.(=)"	"p.(=)"	""
"0000785425"	"00001675"	"50"	"4618"	"0"	"4618"	"0"	"c.4618G>T"	"r.(?)"	"p.(Val1540Phe)"	""
"0000785430"	"00001675"	"50"	"9065"	"0"	"9065"	"0"	"c.9065G>A"	"r.(?)"	"p.(Gly3022Glu)"	""
"0000785431"	"00001675"	"50"	"6218"	"0"	"6218"	"0"	"c.6218C>T"	"r.(?)"	"p.(Ser2073Phe)"	""
"0000785432"	"00001675"	"50"	"6218"	"0"	"6218"	"0"	"c.6218C>T"	"r.(?)"	"p.(Ser2073Phe)"	""
"0000785437"	"00001675"	"50"	"6463"	"0"	"6463"	"0"	"c.6463A>C"	"r.(?)"	"p.(Asn2155His)"	""
"0000785439"	"00001675"	"50"	"5348"	"0"	"5348"	"0"	"c.5348C>A"	"r.(?)"	"p.(Ala1783Asp)"	""
"0000785440"	"00001675"	"50"	"8248"	"0"	"8248"	"0"	"c.8248C>T"	"r.(?)"	"p.(Pro2750Ser)"	""
"0000787147"	"00001675"	"50"	"4643"	"0"	"4643"	"0"	"c.4643A>G"	"r.(?)"	"p.(Asp1548Gly)"	"26"
"0000791732"	"00001675"	"70"	"7988"	"0"	"7989"	"0"	"c.7988_7989del"	"r.(?)"	"p.(Gly2663Alafs*40)"	""
"0000791733"	"00001675"	"70"	"5348"	"0"	"5348"	"0"	"c.5348C>A"	"r.(?)"	"p.(Ala1783Asp)"	""
"0000791734"	"00001675"	"70"	"1819"	"0"	"1819"	"0"	"c.1819del"	"r.(?)"	"p.(Tyr607Thrfs*6)"	""
"0000791735"	"00001675"	"70"	"510"	"0"	"510"	"0"	"c.510dup"	"r.(?)"	"p.(Leu171Serfs*8)"	"5"
"0000791736"	"00001675"	"70"	"7988"	"0"	"7989"	"0"	"c.7988_7989del"	"r.(?)"	"p.(Gly2663Alafs*40)"	""
"0000791737"	"00001675"	"70"	"7817"	"0"	"7817"	"0"	"c.7817T>A"	"r.(?)"	"p.(Leu2606*)"	""
"0000791738"	"00001675"	"70"	"3001"	"0"	"3001"	"0"	"c.3001A>G"	"r.(?)"	"p.(Thr1001Ala)"	""
"0000791739"	"00001675"	"70"	"2923"	"0"	"2923"	"0"	"c.2923C>T"	"r.(?)"	"p.(Gln975*)"	""
"0000791740"	"00001675"	"70"	"7190"	"0"	"7190"	"0"	"c.7190del"	"r.(?)"	"p.(Pro2397Glnfs*37)"	""
"0000791741"	"00001675"	"70"	"7190"	"0"	"7190"	"0"	"c.7190del"	"r.(?)"	"p.(Pro2397Glnfs*37)"	""
"0000791742"	"00001675"	"70"	"2624"	"0"	"2624"	"0"	"c.2624C>T"	"r.(?)"	"p.(Ser875Phe)"	""
"0000791743"	"00001675"	"70"	"7477"	"0"	"7477"	"0"	"c.7477C>T"	"r.(?)"	"p.(Arg2493*)"	""
"0000791744"	"00001675"	"70"	"455"	"0"	"455"	"0"	"c.455C>T"	"r.(?)"	"p.(Ser152Phe)"	""
"0000791745"	"00001675"	"70"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	""
"0000791746"	"00001675"	"70"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	""
"0000791822"	"00001675"	"70"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	""
"0000791823"	"00001675"	"70"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000791824"	"00001675"	"70"	"1819"	"0"	"1819"	"0"	"c.1819del"	"r.(?)"	"p.(Tyr607Thrfs*6)"	""
"0000791825"	"00001675"	"70"	"2999"	"0"	"2999"	"0"	"c.2999G>T"	"r.(?)"	"p.(Trp1000Leu)"	""
"0000791826"	"00001675"	"70"	"8855"	"1"	"8855"	"1"	"c.8855+1G>A"	"r.(?)"	"p.(?)"	""
"0000791827"	"00001675"	"70"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000791828"	"00001675"	"70"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000791829"	"00001675"	"70"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	""
"0000791830"	"00001675"	"70"	"5737"	"2"	"5737"	"2"	"c.5737+2T>C"	"r.(?)"	"p.(?)"	""
"0000791831"	"00001675"	"70"	"8263"	"0"	"8263"	"0"	"c.8263dup"	"r.(?)"	"p.(Thr2755Asnfs*8)"	"42"
"0000791832"	"00001675"	"70"	"2334"	"0"	"2334"	"0"	"c.2334G>A"	"r.(?)"	"p.(Trp778*)"	""
"0000791833"	"00001675"	"70"	"8263"	"0"	"8264"	"0"	"c.8263_8264insG"	"r.(?)"	"p.(Thr2755Serfs*8)"	"42"
"0000791834"	"00001675"	"70"	"8263"	"0"	"8264"	"0"	"c.8263_8264insG"	"r.(?)"	"p.(Thr2755Serfs*8)"	"42"
"0000793982"	"00001675"	"90"	"7978"	"0"	"7978"	"0"	"c.7978C>T"	"r.(?)"	"p.(Arg2660*)"	"0"
"0000793983"	"00001675"	"90"	"7988"	"0"	"7989"	"0"	"c.7988_7989del"	"r.(?)"	"p.(Gly2663Alafs*40)"	"0"
"0000793984"	"00001675"	"90"	"7988"	"0"	"7989"	"0"	"c.7988_7989del"	"r.(?)"	"p.(Gly2663Alafs*40)"	"0"
"0000802091"	"00001675"	"50"	"8854"	"0"	"8854"	"0"	"c.8854A>G"	"r.(?)"	"p.(Arg2952Gly)"	""
"0000802092"	"00001675"	"30"	"8796"	"4"	"8796"	"4"	"c.8796+4A>C"	"r.spl?"	"p.?"	""
"0000802093"	"00001675"	"30"	"8628"	"0"	"8628"	"0"	"c.8628C>T"	"r.(?)"	"p.(Ser2876=)"	""
"0000802094"	"00001675"	"30"	"7957"	"288"	"7957"	"288"	"c.7957+288G>A"	"r.(=)"	"p.(=)"	""
"0000802095"	"00001675"	"50"	"7886"	"0"	"7886"	"0"	"c.7886C>T"	"r.(?)"	"p.(Ser2629Leu)"	""
"0000802096"	"00001675"	"50"	"7616"	"0"	"7616"	"0"	"c.7616C>T"	"r.(?)"	"p.(Ala2539Val)"	""
"0000802097"	"00001675"	"50"	"4792"	"0"	"4792"	"0"	"c.4792A>G"	"r.(?)"	"p.(Thr1598Ala)"	""
"0000802098"	"00001675"	"50"	"3366"	"0"	"3366"	"0"	"c.3366T>G"	"r.(?)"	"p.(Asp1122Glu)"	""
"0000802099"	"00001675"	"30"	"1755"	"0"	"1755"	"0"	"c.1755A>G"	"r.(?)"	"p.(Ser585=)"	""
"0000802100"	"00001675"	"90"	"1230"	"0"	"1230"	"0"	"c.1230del"	"r.(?)"	"p.(Tyr411Thrfs*25)"	""
"0000816487"	"00001675"	"50"	"481"	"0"	"481"	"0"	"c.481T>G"	"r.(?)"	"p.(Trp161Gly)"	""
"0000816488"	"00001675"	"50"	"7079"	"0"	"7079"	"0"	"c.7079C>T"	"r.(?)"	"p.(Pro2360Leu)"	""
"0000817931"	"00001675"	"90"	"9258"	"0"	"9259"	"0"	"c.9258_9259del"	"r.(?)"	"p.(His3086GlnfsTer25)"	""
"0000818169"	"00001675"	"70"	"3577"	"0"	"3577"	"0"	"c.3577C>T"	"r.(?)"	"p.(Arg1193Cys)"	"20"
"0000818170"	"00001675"	"70"	"3577"	"0"	"3577"	"0"	"c.3577C>T"	"r.(?)"	"p.(Arg1193Cys)"	"20"
"0000818171"	"00001675"	"70"	"986"	"0"	"986"	"0"	"c.986T>C"	"r.(?)"	"p.(Leu329Pro)"	"9"
"0000818172"	"00001675"	"70"	"2846"	"0"	"2846"	"0"	"c.2846A>G"	"r.(?)"	"p.(Tyr949Cys)"	"16"
"0000818173"	"00001675"	"70"	"8501"	"0"	"8501"	"0"	"c.8501G>C"	"r.(?)"	"p.(Ser2834Thr)"	"44"
"0000818174"	"00001675"	"70"	"7588"	"7"	"7588"	"7"	"c.7588+7A>G"	"r.(=)"	"p.(=)"	"37i"
"0000818175"	"00001675"	"70"	"3577"	"0"	"3577"	"0"	"c.3577C>T"	"r.(?)"	"p.(Arg1193Cys)"	"20"
"0000818176"	"00001675"	"70"	"3599"	"0"	"3599"	"0"	"c.3599C>T"	"r.(?)"	"p.(Ala1200Val)"	"20"
"0000818298"	"00001675"	"90"	"1819"	"0"	"1819"	"0"	"c.1819del"	"r.(?)"	"p.(Tyr607Thrfs*6)"	"12"
"0000818303"	"00001675"	"90"	"1819"	"0"	"1819"	"0"	"c.1819del"	"r.(?)"	"p.(Tyr607Thrfs*6)"	"12"
"0000818304"	"00001675"	"90"	"7817"	"0"	"7817"	"0"	"c.7817T>A"	"r.(?)"	"p.(Leu2606*)"	"40"
"0000818311"	"00001675"	"90"	"8263"	"0"	"8264"	"0"	"c.8263_8264insG"	"r.(?)"	"p.(Thr2755Serfs*8)"	"42"
"0000818312"	"00001675"	"90"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	"12"
"0000818313"	"00001675"	"90"	"8263"	"0"	"8264"	"0"	"c.8263_8264insG"	"r.(?)"	"p.(Thr2755Serfs*8)"	"42"
"0000818314"	"00001675"	"90"	"1784"	"0"	"1784"	"0"	"c.1784T>G"	"r.(?)"	"p.(Leu595*)"	"12"
"0000818317"	"00001675"	"90"	"8263"	"0"	"8263"	"0"	"c.8263dup"	"r.(?)"	"p.(Thr2755Asnfs*8)"	"42"
"0000818318"	"00001675"	"90"	"7477"	"0"	"7477"	"0"	"c.7477C>T"	"r.(?)"	"p.(Arg2493*)"	"36"
"0000818323"	"00001675"	"90"	"7190"	"0"	"7190"	"0"	"c.7190del"	"r.(?)"	"p.(Pro2397Glnfs*37)"	"34"
"0000818324"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	"46"
"0000818325"	"00001675"	"90"	"7190"	"0"	"7190"	"0"	"c.7190del"	"r.(?)"	"p.(Pro2397Glnfs*37)"	"34"
"0000818326"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	"46"
"0000818343"	"00001675"	"90"	"510"	"0"	"510"	"0"	"c.510dup"	"r.(?)"	"p.(Leu171Serfs*8)"	"5"
"0000818344"	"00001675"	"90"	"8710"	"0"	"8710"	"0"	"c.8710C>T"	"r.(?)"	"p.(Arg2904*)"	"46"
"0000818345"	"00001675"	"90"	"455"	"0"	"455"	"0"	"c.455C>T"	"r.(?)"	"p.(Ser152Phe)"	"5"
"0000818346"	"00001675"	"90"	"2334"	"0"	"2334"	"0"	"c.2334G>A"	"r.(?)"	"p.(Trp778*)"	"13"
"0000818349"	"00001675"	"90"	"2999"	"0"	"2999"	"0"	"c.2999G>T"	"r.(?)"	"p.(Trp1000Leu)"	"17"
"0000818350"	"00001675"	"90"	"3001"	"0"	"3001"	"0"	"c.3001A>G"	"r.(?)"	"p.(Thr1001Ala)"	"17"
"0000818351"	"00001675"	"90"	"8855"	"1"	"8855"	"1"	"c.8855+1G>A"	"r.spl?"	"p.?"	"47i"
"0000818376"	"00001675"	"90"	"2624"	"0"	"2624"	"0"	"c.2624C>T"	"r.(?)"	"p.(Ser875Phe)"	"15"
"0000818377"	"00001675"	"90"	"5737"	"2"	"5737"	"2"	"c.5737+2T>C"	"r.spl?"	"p.?"	"28i"
"0000845902"	"00001675"	"70"	"8539"	"0"	"8539"	"0"	"c.8539G>A"	"r.(?)"	"p.(Asp2847Asn)"	""
"0000847315"	"00001675"	"90"	"7978"	"0"	"7978"	"0"	"c.7978C>T"	"r.(?)"	"p.(Arg2660*)"	""
"0000847316"	"00001675"	"90"	"7988"	"0"	"7989"	"0"	"c.7988_7989delGA"	"r.(?)"	"p.(Gly2663Alafs*40)"	""
"0000847317"	"00001675"	"90"	"7988"	"0"	"7989"	"0"	"c.7988_7989delGA"	"r.(?)"	"p.(Gly2663Alafs*40)"	""
"0000847509"	"00001675"	"70"	"7243"	"0"	"7243"	"0"	"c.7243dup"	"r.(?)"	"p.(Thr2415Asnfs*7)"	"8"
"0000847510"	"00001675"	"70"	"8001"	"0"	"8001"	"0"	"c.8001delG (p.K2667Nfs*31)"	"r.(?)"	"p.(Thr2415Asnfs*7)"	"8"
"0000850901"	"00001675"	"30"	"9507"	"0"	"9507"	"0"	"c.9507C>T"	"r.(?)"	"p.(Leu3169=)"	""
"0000850902"	"00001675"	"50"	"9251"	"0"	"9251"	"0"	"c.9251C>T"	"r.(?)"	"p.(Pro3084Leu)"	""
"0000850902"	"00025749"	"50"	"9413"	"0"	"9413"	"0"	"c.9413C>T"	"r.(?)"	"p.(Pro3138Leu)"	""
"0000850903"	"00001675"	"30"	"8812"	"0"	"8812"	"0"	"c.8812A>C"	"r.(?)"	"p.(Arg2938=)"	""
"0000850903"	"00025749"	"30"	"8974"	"0"	"8974"	"0"	"c.8974A>C"	"r.(?)"	"p.(Arg2992=)"	""
"0000850904"	"00001675"	"50"	"8035"	"0"	"8035"	"0"	"c.8035C>T"	"r.(?)"	"p.(Arg2679Trp)"	""
"0000850904"	"00025749"	"50"	"8197"	"0"	"8197"	"0"	"c.8197C>T"	"r.(?)"	"p.(Arg2733Trp)"	""
"0000850905"	"00001675"	"30"	"8013"	"0"	"8013"	"0"	"c.8013A>C"	"r.(?)"	"p.(Ala2671=)"	""
"0000850906"	"00001675"	"30"	"7596"	"0"	"7596"	"0"	"c.7596A>G"	"r.(?)"	"p.(Leu2532=)"	""
"0000850906"	"00025749"	"30"	"7596"	"0"	"7596"	"0"	"c.7596A>G"	"r.(?)"	"p.(Leu2532=)"	""
"0000850907"	"00001675"	"10"	"6905"	"0"	"6905"	"0"	"c.6905C>T"	"r.(?)"	"p.(Thr2302Met)"	""
"0000850908"	"00001675"	"30"	"6547"	"0"	"6547"	"0"	"c.6547C>A"	"r.(?)"	"p.(Pro2183Thr)"	""
"0000850908"	"00025749"	"30"	"6547"	"0"	"6547"	"0"	"c.6547C>A"	"r.(?)"	"p.(Pro2183Thr)"	""
"0000850909"	"00001675"	"30"	"5928"	"0"	"5928"	"0"	"c.5928G>A"	"r.(?)"	"p.(Gly1976=)"	""
"0000850910"	"00001675"	"10"	"5329"	"0"	"5329"	"0"	"c.5329G>A"	"r.(?)"	"p.(Val1777Ile)"	""
"0000850911"	"00001675"	"30"	"4698"	"0"	"4698"	"0"	"c.4698A>G"	"r.(?)"	"p.(Leu1566=)"	""
"0000850912"	"00001675"	"50"	"4397"	"0"	"4397"	"0"	"c.4397G>C"	"r.(?)"	"p.(Gly1466Ala)"	""
"0000850912"	"00025749"	"50"	"4397"	"0"	"4397"	"0"	"c.4397G>C"	"r.(?)"	"p.(Gly1466Ala)"	""
"0000850913"	"00001675"	"10"	"4310"	"0"	"4310"	"0"	"c.4310T>C"	"r.(?)"	"p.(Ile1437Thr)"	""
"0000850914"	"00001675"	"30"	"4074"	"0"	"4074"	"0"	"c.4074C>T"	"r.(?)"	"p.(Ile1358=)"	""
"0000850915"	"00001675"	"30"	"662"	"0"	"662"	"0"	"c.662T>C"	"r.(?)"	"p.(Val221Ala)"	""
"0000850916"	"00001675"	"50"	"647"	"0"	"647"	"0"	"c.647G>A"	"r.(?)"	"p.(Arg216Gln)"	""
"0000850916"	"00025749"	"50"	"647"	"0"	"647"	"0"	"c.647G>A"	"r.(?)"	"p.(Arg216Gln)"	""
"0000859917"	"00001675"	"30"	"9024"	"-3"	"9024"	"-3"	"c.9024-3T>C"	"r.spl?"	"p.?"	""
"0000859917"	"00025749"	"30"	"9186"	"-3"	"9186"	"-3"	"c.9186-3T>C"	"r.spl?"	"p.?"	""
"0000859918"	"00001675"	"30"	"8212"	"-7"	"8212"	"-7"	"c.8212-7dup"	"r.(=)"	"p.(=)"	""
"0000859918"	"00025749"	"30"	"8374"	"-7"	"8374"	"-7"	"c.8374-7dup"	"r.(=)"	"p.(=)"	""
"0000859919"	"00001675"	"30"	"8212"	"-15"	"8212"	"-15"	"c.8212-15G>A"	"r.(=)"	"p.(=)"	""
"0000859919"	"00025749"	"30"	"8374"	"-15"	"8374"	"-15"	"c.8374-15G>A"	"r.(=)"	"p.(=)"	""
"0000859920"	"00001675"	"30"	"7764"	"0"	"7764"	"0"	"c.7764G>A"	"r.(?)"	"p.(Met2588Ile)"	""
"0000859920"	"00025749"	"30"	"7764"	"0"	"7764"	"0"	"c.7764G>A"	"r.(?)"	"p.(Met2588Ile)"	""
"0000859921"	"00001675"	"50"	"5953"	"0"	"5953"	"0"	"c.5953G>T"	"r.(?)"	"p.(Val1985Leu)"	""
"0000859921"	"00025749"	"50"	"5953"	"0"	"5953"	"0"	"c.5953G>T"	"r.(?)"	"p.(Val1985Leu)"	""
"0000859922"	"00001675"	"50"	"5036"	"0"	"5036"	"0"	"c.5036G>A"	"r.(?)"	"p.(Gly1679Asp)"	""
"0000859922"	"00025749"	"50"	"5036"	"0"	"5036"	"0"	"c.5036G>A"	"r.(?)"	"p.(Gly1679Asp)"	""
"0000859923"	"00001675"	"30"	"4954"	"0"	"4954"	"0"	"c.4954C>T"	"r.(?)"	"p.(Leu1652=)"	""
"0000859923"	"00025749"	"30"	"4954"	"0"	"4954"	"0"	"c.4954C>T"	"r.(?)"	"p.(Leu1652=)"	""
"0000859924"	"00001675"	"30"	"4517"	"0"	"4517"	"0"	"c.4517A>T"	"r.(?)"	"p.(His1506Leu)"	""
"0000859924"	"00025749"	"30"	"4517"	"0"	"4517"	"0"	"c.4517A>T"	"r.(?)"	"p.(His1506Leu)"	""
"0000859925"	"00001675"	"10"	"3240"	"0"	"3240"	"0"	"c.3240C>T"	"r.(?)"	"p.(Ala1080=)"	""
"0000859925"	"00025749"	"10"	"3240"	"0"	"3240"	"0"	"c.3240C>T"	"r.(?)"	"p.(Ala1080=)"	""
"0000859926"	"00001675"	"10"	"1737"	"0"	"1737"	"0"	"c.1737G>A"	"r.(?)"	"p.(Ala579=)"	""
"0000859926"	"00025749"	"10"	"1737"	"0"	"1737"	"0"	"c.1737G>A"	"r.(?)"	"p.(Ala579=)"	""
"0000859927"	"00001675"	"30"	"1125"	"0"	"1125"	"0"	"c.1125A>G"	"r.(?)"	"p.(Pro375=)"	""
"0000859927"	"00025749"	"30"	"1125"	"0"	"1125"	"0"	"c.1125A>G"	"r.(?)"	"p.(Pro375=)"	""
"0000881187"	"00001675"	"90"	"1819"	"0"	"1819"	"0"	"c.1819del"	"r.(?)"	"p.(Tyr607ThrfsTer6)"	""
"0000881343"	"00001675"	"90"	"8263"	"0"	"8263"	"0"	"c.8263dup"	"r.(?)"	"p.(Thr2755AsnfsTer8)"	""
"0000886823"	"00001675"	"50"	"8932"	"0"	"8934"	"0"	"c.8932_8934dup"	"r.(?)"	"p.(Val2978dup)"	""
"0000886824"	"00001675"	"30"	"8931"	"0"	"8931"	"0"	"c.8931A>G"	"r.(?)"	"p.(Ser2977=)"	""
"0000886825"	"00001675"	"30"	"8778"	"0"	"8778"	"0"	"c.8778C>T"	"r.(?)"	"p.(Phe2926=)"	""
"0000886825"	"00025749"	"30"	"8940"	"0"	"8940"	"0"	"c.8940C>T"	"r.(?)"	"p.(Phe2980=)"	""
"0000886826"	"00001675"	"30"	"7616"	"0"	"7616"	"0"	"c.7616C>T"	"r.(?)"	"p.(Ala2539Val)"	""
"0000886827"	"00001675"	"30"	"5928"	"0"	"5928"	"0"	"c.5928G>A"	"r.(?)"	"p.(Gly1976=)"	""
"0000886828"	"00001675"	"30"	"4719"	"0"	"4719"	"0"	"c.4719C>T"	"r.(?)"	"p.(Asp1573=)"	""
"0000886828"	"00025749"	"30"	"4719"	"0"	"4719"	"0"	"c.4719C>T"	"r.(?)"	"p.(Asp1573=)"	""
"0000886829"	"00001675"	"30"	"4517"	"0"	"4517"	"0"	"c.4517A>G"	"r.(?)"	"p.(His1506Arg)"	""
"0000886830"	"00001675"	"30"	"4134"	"0"	"4134"	"0"	"c.4134T>C"	"r.(?)"	"p.(Pro1378=)"	""
"0000886832"	"00001675"	"30"	"3415"	"0"	"3415"	"0"	"c.3415G>C"	"r.(?)"	"p.(Asp1139His)"	""
"0000886832"	"00025749"	"30"	"3415"	"0"	"3415"	"0"	"c.3415G>C"	"r.(?)"	"p.(Asp1139His)"	""
"0000886833"	"00001675"	"30"	"2581"	"20"	"2581"	"20"	"c.2581+20dup"	"r.(=)"	"p.(=)"	""
"0000886833"	"00025749"	"30"	"2581"	"20"	"2581"	"20"	"c.2581+20dup"	"r.(=)"	"p.(=)"	""
"0000886834"	"00001675"	"30"	"1136"	"0"	"1136"	"0"	"c.1136C>T"	"r.(?)"	"p.(Thr379Met)"	""
"0000886835"	"00001675"	"90"	"534"	"0"	"534"	"0"	"c.534del"	"r.(?)"	"p.(Glu179Lysfs*3)"	""
"0000886835"	"00025749"	"90"	"534"	"0"	"534"	"0"	"c.534del"	"r.(?)"	"p.(Glu179Lysfs*3)"	""
"0000886836"	"00001675"	"30"	"82"	"-10"	"82"	"-10"	"c.82-10C>T"	"r.(=)"	"p.(=)"	""
"0000886836"	"00025749"	"30"	"82"	"-10"	"82"	"-10"	"c.82-10C>T"	"r.(=)"	"p.(=)"	""
"0000904797"	"00001675"	"70"	"7367"	"0"	"7367"	"0"	"c.7367C>T"	"r.(?)"	"p.(Pro2456Leu)"	""
"0000912331"	"00001675"	"50"	"8300"	"-1"	"8300"	"-1"	"c.8300-1G>C"	"r.spl?"	"p.?"	""
"0000912332"	"00001675"	"30"	"4947"	"0"	"4947"	"0"	"c.4947A>G"	"r.(?)"	"p.(Ser1649=)"	""
"0000912332"	"00025749"	"30"	"4947"	"0"	"4947"	"0"	"c.4947A>G"	"r.(?)"	"p.(Ser1649=)"	""
"0000912333"	"00001675"	"30"	"4793"	"0"	"4793"	"0"	"c.4793C>A"	"r.(?)"	"p.(Thr1598Lys)"	""
"0000912334"	"00001675"	"30"	"4719"	"0"	"4719"	"0"	"c.4719C>T"	"r.(?)"	"p.(Asp1573=)"	""
"0000912334"	"00025749"	"30"	"4719"	"0"	"4719"	"0"	"c.4719C>T"	"r.(?)"	"p.(Asp1573=)"	""
"0000912335"	"00001675"	"30"	"4564"	"0"	"4564"	"0"	"c.4564A>G"	"r.(?)"	"p.(Thr1522Ala)"	""
"0000912335"	"00025749"	"30"	"4564"	"0"	"4564"	"0"	"c.4564A>G"	"r.(?)"	"p.(Thr1522Ala)"	""
"0000912336"	"00001675"	"30"	"4074"	"0"	"4074"	"0"	"c.4074C>T"	"r.(?)"	"p.(Ile1358=)"	""
"0000912337"	"00001675"	"30"	"1411"	"0"	"1411"	"0"	"c.1411C>G"	"r.(?)"	"p.(Leu471Val)"	""
"0000912337"	"00025749"	"30"	"1411"	"0"	"1411"	"0"	"c.1411C>G"	"r.(?)"	"p.(Leu471Val)"	""
"0000929072"	"00001675"	"30"	"8502"	"-3"	"8502"	"-3"	"c.8502-3A>T"	"r.spl?"	"p.?"	""
"0000929072"	"00025749"	"30"	"8664"	"-3"	"8664"	"-3"	"c.8664-3A>T"	"r.spl?"	"p.?"	""
"0000929073"	"00001675"	"30"	"7534"	"-5"	"7534"	"-5"	"c.7534-5T>C"	"r.spl?"	"p.?"	""
"0000929073"	"00025749"	"30"	"7534"	"-5"	"7534"	"-5"	"c.7534-5T>C"	"r.spl?"	"p.?"	""
"0000948553"	"00001675"	"30"	"7957"	"348"	"7957"	"348"	"c.7957+348C>T"	"r.(=)"	"p.(=)"	""
"0000948553"	"00025749"	"30"	"8110"	"0"	"8110"	"0"	"c.8110C>T"	"r.(?)"	"p.(Gln2704*)"	""
"0000948554"	"00001675"	"30"	"7957"	"240"	"7957"	"240"	"c.7957+240A>G"	"r.(=)"	"p.(=)"	""
"0000948554"	"00025749"	"30"	"8012"	"-10"	"8012"	"-10"	"c.8012-10A>G"	"r.(=)"	"p.(=)"	""
"0000948555"	"00001675"	"30"	"5040"	"0"	"5040"	"0"	"c.5040A>T"	"r.(?)"	"p.(Leu1680Phe)"	""
"0000948555"	"00025749"	"30"	"5040"	"0"	"5040"	"0"	"c.5040A>T"	"r.(?)"	"p.(Leu1680Phe)"	""
"0000948556"	"00001675"	"30"	"4587"	"0"	"4587"	"0"	"c.4587G>A"	"r.(?)"	"p.(=)"	""
"0000948556"	"00025749"	"30"	"4587"	"0"	"4587"	"0"	"c.4587G>A"	"r.(?)"	"p.(Lys1529=)"	""
"0000948557"	"00001675"	"30"	"2946"	"0"	"2946"	"0"	"c.2946G>A"	"r.(?)"	"p.(=)"	""
"0000948557"	"00025749"	"30"	"2946"	"0"	"2946"	"0"	"c.2946G>A"	"r.(?)"	"p.(Leu982=)"	""
"0000948558"	"00001675"	"70"	"493"	"0"	"493"	"0"	"c.493del"	"r.(?)"	"p.(Ile165Tyrfs*17)"	""
"0000948558"	"00025749"	"70"	"493"	"0"	"493"	"0"	"c.493del"	"r.(?)"	"p.(Ile165Tyrfs*17)"	""
"0000963604"	"00001675"	"30"	"8796"	"0"	"8796"	"0"	"c.8796A>G"	"r.(?)"	"p.(Pro2932=)"	""
"0000963605"	"00001675"	"30"	"7577"	"0"	"7577"	"0"	"c.7577A>G"	"r.(?)"	"p.(Asp2526Gly)"	""
"0000963605"	"00025749"	"30"	"7577"	"0"	"7577"	"0"	"c.7577A>G"	"r.(?)"	"p.(Asp2526Gly)"	""
"0000963607"	"00001675"	"90"	"6368"	"0"	"6368"	"0"	"c.6368C>A"	"r.(?)"	"p.(Ser2123*)"	""
"0000963607"	"00025749"	"90"	"6368"	"0"	"6368"	"0"	"c.6368C>A"	"r.(?)"	"p.(Ser2123*)"	""
"0000976792"	"00001675"	"90"	"2932"	"0"	"2932"	"0"	"c.2932C>T"	"r.(?)"	"p.(Arg978*)"	""
"0000976792"	"00025749"	"90"	"2932"	"0"	"2932"	"0"	"c.2932C>T"	"r.(?)"	"p.(Arg978*)"	""
"0000976793"	"00001675"	"50"	"1096"	"0"	"1096"	"0"	"c.1096C>T"	"r.(?)"	"p.(Pro366Ser)"	""
"0000985107"	"00001675"	"90"	"8471"	"-4"	"8471"	"-3"	"c.8471-4_8471-3del"	"r.(8471_8501del)"	"p.(Gly2824ValfsTer9)"	"43i"
"0000985108"	"00001675"	"90"	"2747"	"-161"	"2747"	"-161"	"c.2747-161A>G"	"r.2746_2747ins2747-160_2747-98"	"p.Gly916_Ala917insX[21]"	""
"0000985109"	"00001675"	"90"	"1121"	"187"	"1121"	"187"	"c.1121+187A>G"	"r.(1121_1122ins1121+149_1121+205)"	"p.(Arg374SerfsTer10)"	"9i"
"0000985152"	"00001675"	"90"	"8406"	"0"	"8406"	"0"	"c.8406del"	"r.(8406del)"	"p.(Pro2804LeufsTer22)"	""
"0000985153"	"00001675"	"70"	"6700"	"0"	"6700"	"0"	"c.6700C>T"	"r.(6700C>T)"	"p.(Gln2234Ter)"	""
"0000985154"	"00001675"	"70"	"493"	"0"	"493"	"0"	"c.493del"	"r.(493del)"	"p.(Ile165TyrfsTer17)"	""
"0000995041"	"00001675"	"50"	"8164"	"0"	"8164"	"0"	"c.8164G>T"	"r.(?)"	"p.(Glu2722*)"	""
"0000995041"	"00025749"	"50"	"8326"	"0"	"8326"	"0"	"c.8326G>T"	"r.(?)"	"p.(Glu2776*)"	""
"0000995042"	"00001675"	"30"	"7924"	"0"	"7924"	"0"	"c.7924A>G"	"r.(?)"	"p.(Asn2642Asp)"	""
"0000995042"	"00025749"	"30"	"7978"	"0"	"7978"	"0"	"c.7978A>G"	"r.(?)"	"p.(Asn2660Asp)"	""
"0000995043"	"00001675"	"30"	"7901"	"0"	"7901"	"0"	"c.7901A>G"	"r.(?)"	"p.(His2634Arg)"	""
"0000995043"	"00025749"	"30"	"7955"	"0"	"7955"	"0"	"c.7955A>G"	"r.(?)"	"p.(His2652Arg)"	""
"0000995044"	"00001675"	"30"	"7807"	"0"	"7807"	"0"	"c.7807A>T"	"r.(?)"	"p.(Asn2603Tyr)"	""
"0000995044"	"00025749"	"30"	"7807"	"0"	"7807"	"0"	"c.7807A>T"	"r.(?)"	"p.(Asn2603Tyr)"	""
"0000995045"	"00001675"	"30"	"5659"	"0"	"5659"	"0"	"c.5659A>G"	"r.(?)"	"p.(Ile1887Val)"	""
"0000995045"	"00025749"	"30"	"5659"	"0"	"5659"	"0"	"c.5659A>G"	"r.(?)"	"p.(Ile1887Val)"	""
"0000995046"	"00001675"	"50"	"2257"	"0"	"2257"	"0"	"c.2257C>G"	"r.(?)"	"p.(Gln753Glu)"	""
"0000995046"	"00025749"	"50"	"2257"	"0"	"2257"	"0"	"c.2257C>G"	"r.(?)"	"p.(Gln753Glu)"	""
"0001014127"	"00001675"	"90"	"8263"	"0"	"8263"	"0"	"c.8263dup"	"r.(?)"	"p.(Thr2755Asnfs*8)"	""
"0001014127"	"00025749"	"90"	"8425"	"0"	"8425"	"0"	"c.8425dup"	"r.(?)"	"p.(Thr2809Asnfs*8)"	""
"0001014128"	"00001675"	"70"	"3857"	"0"	"3857"	"0"	"c.3857G>A"	"r.(?)"	"p.(Arg1286His)"	""
"0001014128"	"00025749"	"70"	"3857"	"0"	"3857"	"0"	"c.3857G>A"	"r.(?)"	"p.(Arg1286His)"	""
"0001025099"	"00001675"	"50"	"5421"	"0"	"5421"	"0"	"c.5421G>A"	"r.(?)"	"p.(Lys1807=)"	""
"0001025100"	"00001675"	"50"	"5329"	"0"	"5329"	"0"	"c.5329G>A"	"r.(?)"	"p.(Val1777Ile)"	""
"0001035216"	"00001675"	"50"	"8854"	"0"	"8854"	"0"	"c.8854A>G"	"r.(?)"	"p.(Arg2952Gly)"	""
"0001035217"	"00001675"	"30"	"8796"	"4"	"8796"	"4"	"c.8796+4A>C"	"r.spl?"	"p.?"	""
"0001035218"	"00001675"	"50"	"4414"	"0"	"4414"	"0"	"c.4414A>G"	"r.(?)"	"p.(Ser1472Gly)"	""
"0001035218"	"00025749"	"50"	"4414"	"0"	"4414"	"0"	"c.4414A>G"	"r.(?)"	"p.(Ser1472Gly)"	""
"0001035219"	"00001675"	"50"	"4388"	"0"	"4388"	"0"	"c.4388C>T"	"r.(?)"	"p.(Thr1463Ile)"	""
"0001035219"	"00025749"	"50"	"4388"	"0"	"4388"	"0"	"c.4388C>T"	"r.(?)"	"p.(Thr1463Ile)"	""
"0001035220"	"00001675"	"50"	"4055"	"0"	"4055"	"0"	"c.4055T>C"	"r.(?)"	"p.(Ile1352Thr)"	""
"0001035220"	"00025749"	"50"	"4055"	"0"	"4055"	"0"	"c.4055T>C"	"r.(?)"	"p.(Ile1352Thr)"	""
"0001035221"	"00001675"	"50"	"3812"	"-5"	"3812"	"-5"	"c.3812-5T>G"	"r.spl?"	"p.?"	""
"0001035221"	"00025749"	"50"	"3812"	"-5"	"3812"	"-5"	"c.3812-5T>G"	"r.spl?"	"p.?"	""
"0001035222"	"00001675"	"50"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Val695Ile)"	""
"0001035222"	"00025749"	"50"	"2083"	"0"	"2083"	"0"	"c.2083G>A"	"r.(?)"	"p.(Val695Ile)"	""
"0001035223"	"00001675"	"10"	"1736"	"0"	"1736"	"0"	"c.1736C>T"	"r.(?)"	"p.(Ala579Val)"	""
"0001035224"	"00001675"	"50"	"1319"	"0"	"1319"	"0"	"c.1319T>C"	"r.(?)"	"p.(Leu440Pro)"	""
"0001035225"	"00001675"	"50"	"589"	"0"	"589"	"0"	"c.589C>T"	"r.(?)"	"p.(=)"	""
"0001035225"	"00025749"	"50"	"589"	"0"	"589"	"0"	"c.589C>T"	"r.(?)"	"p.(Leu197=)"	""
"0001044565"	"00001675"	"90"	"4942"	"0"	"4945"	"0"	"c.4942_4945del"	"r.(4942_4945del)"	"p.(Ser1648HisfsTer26)"	""
"0001044566"	"00001675"	"90"	"2747"	"-161"	"2747"	"-161"	"c.2747-161A>G"	"r.2746_2747ins2747-160_2747-98"	"p.Gly916_Ala917insX[21]"	"15i"
"0001044590"	"00025749"	"90"	"3551"	"0"	"3551"	"0"	"c.3551G>A"	"r.(?)"	"p.(Arg1184His)"	""
"0001044591"	"00025749"	"90"	"4006"	"0"	"4006"	"0"	"c.4006C>T"	"r.(?)"	"p.(Arg1336Trp)"	""
"0001044592"	"00025749"	"90"	"3676"	"0"	"3676"	"0"	"c.3676C>T"	"r.(?)"	"p.(Arg1226Ter)"	""
"0001044593"	"00025749"	"70"	"0"	"0"	"0"	"0"	"c.(2920+1_2921-1)_(9148+1_9149-1)"	"r.?"	"p.?"	"16i_49i"
"0001044594"	"00001675"	"70"	"8471"	"-4"	"8471"	"-3"	"c.8471-4_8471-3del"	"r.(8471_8501del)"	"p.(Gly2824ValfsTer9)"	""
"0001044594"	"00025749"	"70"	"8633"	"-4"	"8633"	"-3"	"c.8633-4_8633-3del"	"r.(8633_8663del)"	"p.(Gly2878ValfsTer9)"	""
"0001044595"	"00001675"	"70"	"8471"	"-4"	"8471"	"-3"	"c.8471-4_8471-3del"	"r.(8471_8501del)"	"p.(Gly2824ValfsTer9)"	""
"0001044595"	"00025749"	"70"	"8633"	"-4"	"8633"	"-3"	"c.8633-4_8633-3del"	"r.(8633_8663del)"	"p.(Gly2878ValfsTer9)"	""
"0001044596"	"00001675"	"90"	"2747"	"-161"	"2747"	"-161"	"c.2747-161A>G"	"r.(2746_2747ins2747-160_2747-98)"	"p.(Gly916_Ala917insX[21])"	""
"0001044598"	"00001675"	"90"	"678"	"-1"	"938"	"1"	"c.(677+1_678-1)_(938+1_939-1)del"	"r.(678_938del)"	"p.?"	"6i_8i"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 261
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000004124"
"0000028942"	"0000785437"
"0000028946"	"0000052250"
"0000028947"	"0000052251"
"0000028947"	"0000052252"
"0000028947"	"0000785439"
"0000028948"	"0000052253"
"0000028948"	"0000052254"
"0000028948"	"0000785440"
"0000028950"	"0000052255"
"0000028950"	"0000052256"
"0000028951"	"0000052257"
"0000028951"	"0000052258"
"0000028952"	"0000052259"
"0000028952"	"0000052394"
"0000050285"	"0000079237"
"0000050285"	"0000079265"
"0000050300"	"0000079252"
"0000050300"	"0000079280"
"0000050521"	"0000079501"
"0000050521"	"0000079681"
"0000104095"	"0000168711"
"0000104095"	"0000168712"
"0000104096"	"0000168713"
"0000104096"	"0000168714"
"0000104097"	"0000168715"
"0000104097"	"0000168716"
"0000104098"	"0000168717"
"0000104098"	"0000168718"
"0000104099"	"0000168719"
"0000104099"	"0000168720"
"0000104100"	"0000168721"
"0000104100"	"0000168722"
"0000104101"	"0000168723"
"0000104101"	"0000168724"
"0000104102"	"0000168725"
"0000104102"	"0000168726"
"0000104103"	"0000168727"
"0000104103"	"0000168728"
"0000104104"	"0000168729"
"0000104104"	"0000168730"
"0000104105"	"0000168731"
"0000104106"	"0000168732"
"0000104107"	"0000168733"
"0000104107"	"0000168734"
"0000104108"	"0000168735"
"0000104108"	"0000168736"
"0000104109"	"0000168737"
"0000104109"	"0000168738"
"0000104110"	"0000168739"
"0000104110"	"0000168740"
"0000232512"	"0000480535"
"0000295028"	"0000651717"
"0000295029"	"0000651718"
"0000295030"	"0000651719"
"0000295031"	"0000651720"
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