### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C21orf2)
# 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}}"
"C21orf2"	"chromosome 21 open reading frame 2"	"21"	"q22.3"	"unknown"	"NC_000021.8"	"UD_132439619977"	""	"https://www.LOVD.nl/C21orf2"	""	"1"	"1260"	"755"	"603191"	"1"	"1"	"1"	"1"	"Alias C21orf2\r\n<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</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"	"https://databases.lovd.nl/shared/refseq/C21orf2_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">NOTE: gene name changed from C21orf2 to CFAP410</font>"	"-1"	""	"-1"	"00001"	"2012-09-24 00:00:00"	"00006"	"2024-09-25 10:43:25"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{geneid}}"	"{{name}}"	"{{id_mutalyzer}}"	"{{id_ncbi}}"	"{{id_ensembl}}"	"{{id_protein_ncbi}}"	"{{id_protein_ensembl}}"	"{{id_protein_uniprot}}"	"{{remarks}}"	"{{position_c_mrna_start}}"	"{{position_c_mrna_end}}"	"{{position_c_cds_end}}"	"{{position_g_mrna_start}}"	"{{position_g_mrna_end}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00004182"	"C21orf2"	"chromosome 21 open reading frame 2"	"001"	"NM_004928.2"	""	"NP_004919.1"	""	""	""	"-208"	"2025"	"771"	"45759285"	"45748827"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00058"	"CORD"	"dystrophy, cone-rod (CORD)"	""	""	""	""	""	"00006"	"2012-09-22 11:31:25"	"00006"	"2020-08-30 09:43:59"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"02156"	"-"	"retinitis pigmentosa, X-linked, and sinorespiratory infections, with/without deafness"	""	"300455"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02804"	"SMDCRD"	"dysplasia, spondylometaphyseal, with cone-rod dystrophy (SMDCRD)"	"AR"	"608940"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2019-12-10 14:05:02"
"04213"	"COD"	"dystrophy, cone (COD)"	""	""	""	""	""	"00006"	"2015-02-27 19:22:18"	""	""
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""
"05635"	"SRTD"	"dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)"	""	""	""	""	""	"00006"	"2019-07-28 13:54:33"	""	""
"05876"	"RDMS"	"dystrophy, retinal, with macular staphyloma"	"AR"	"617547"	""	""	""	"00006"	"2020-11-11 10:13:25"	"00006"	"2024-09-25 10:44:11"
"05877"	"SMDAX"	"dysplasia, spondylometaphyseal, axial"	"AR"	"602271"	""	""	""	"00006"	"2020-11-11 10:14:38"	"00006"	"2024-09-25 10:44:28"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"C21orf2"	"05876"
"C21orf2"	"05877"


## Individuals ## Do not remove or alter this header ##
## Count = 67
"{{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}}"
"00059794"	""	""	""	"1"	""	"00039"	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	""	""	"0"	""	""	""	""
"00104990"	""	""	""	"1"	""	"01244"	"{PMID:de Castro-Miró 2016:28005958}"	""	"M"	"no"	"Spain"	""	"0"	""	""	""	"A10.1"
"00155393"	""	""	""	"2"	""	"01243"	"Sharon, submitted"	""	"F"	"yes"	"Israel"	""	"0"	""	""	"Morocco;Jewish"	""
"00209023"	""	""	""	"1"	""	"00006"	"{PMID:Lionel 2018:28771251}"	""	"M"	""	"Canada"	""	"0"	""	""	""	"28771251-Pat40"
"00248833"	""	""	""	"2"	""	"00006"	"{PMID:Wheway 2015:26167768}"	"2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives"	"F;M"	""	""	""	"0"	""	""	"white, Europe (north)"	"FamUCL-111P1/P2"
"00248834"	""	""	""	"1"	""	"00006"	"{PMID:Wheway 2015:26167768}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"M"	""	"United States"	""	"0"	""	""	"white, Europe (north)"	"FamUCL78P1"
"00248835"	""	""	""	"1"	""	"00006"	"{PMID:Wheway 2015:26167768}"	"2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives"	"F;M"	""	""	"00y00m15d"	"0"	""	""	""	"FamGC4693Pat1/2/3/4/5"
"00248836"	""	""	""	"1"	""	"00006"	"{PMID:Wheway 2015:26167768}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives"	"F"	"yes"	""	""	"0"	""	""	""	"FamCR-F024P1"
"00248837"	""	""	""	"1"	""	"00006"	"{PMID:Wheway 2015:26167768}"	""	""	""	""	""	"0"	""	""	""	"FamF1P1"
"00303489"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00308604"	""	""	""	"1"	""	"00004"	"{PMID:Holtan 2020:31429209}"	"1 homozygous patient"	""	""	"Norway"	""	"0"	""	""	""	""
"00308986"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308987"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00308988"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00324526"	""	""	""	"1"	""	"03960"	"{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}"	"2-generation family, 1 affected, unaffected parents"	"M"	"no"	"Japan"	">20y"	"0"	""	""	""	"patient"
"00327459"	""	""	""	"2"	""	"03818"	"{PMID:Kurashige 2019:31431468}"	"3-generation family, 2 affected sisters"	"F"	"yes"	"Japan"	">64y"	"0"	""	""	""	"FamPatII2"
"00327460"	""	""	"00327459"	"1"	""	"03818"	"{PMID:Kurashige 2019:31431468}"	"sister"	"F"	"yes"	"Japan"	">57y"	"0"	""	""	""	"FamPatII6"
"00327462"	""	""	""	"1"	""	"03818"	"{PMID:McInerney-Leo 2017:28422394}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	"no"	"Australia"	">30y"	"0"	""	""	""	"SKDP-144.3"
"00327504"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26294103}"	"2-generation family, 1 affected, unaffected parents"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Pat1"
"00327505"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26294103}"	"2-generation family, 1 affected, unaffected parents"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Pat2"
"00327506"	""	""	""	"1"	""	"00000"	"{PMID:Khan 2015:26294103}"	"2-generation family, 1 affected, unaffected heterozygous mother/sister"	"F"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Pat3"
"00327507"	""	""	""	"2"	""	"00000"	"{PMID:Wang 2016:26974433}"	"2-generation family, 2 affected (F, M), unaffected heterozygous parents"	"F;M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam1"
"00327508"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:26974433}"	"2-generation family, 1 affected, unaffected heterozygous parents"	"M"	""	"Korea"	""	"0"	""	""	""	"Fam5"
"00327509"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:26974433}"	"2-generation family, 1 affected, unaffected heterozygous parents"	"M"	"yes"	"France"	""	"0"	""	""	""	"Fam6"
"00327510"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2016:26974433}"	"2-generation family, 1 affected, unaffected heterozygous parents"	"M"	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam7"
"00327511"	""	""	""	"3"	""	"00000"	"{PMID:Wang 2016:26974433}"	"2-generation family, 3 affected, (2F, M) unaffected heterozygous parents"	"F;M"	"yes"	"Turkey"	""	"0"	""	""	""	"Fam8"
"00327512"	""	""	""	"2"	""	"00000"	"{PMID:Wang 2016:26974433}"	"2-generation family, 2 affected (F, M), unaffected heterozygous parents"	"F"	""	"Sweden"	""	"0"	""	""	""	"Fam9"
"00327513"	""	""	""	"2"	""	"00000"	"{PMID:Suga 2016:27548899}"	"2-generation family, 2 affected (F, M), unaffected heterozygous parents"	"F;M"	""	"Japan"	""	"0"	""	""	""	"Fam1"
"00327514"	""	""	""	"2"	""	"00000"	"{PMID:Suga 2016:27548899}"	"2-generation family, 2 affected (F, M), unaffected heterozygous parents"	"F;M"	""	"Japan"	""	"0"	""	""	""	"Fam2"
"00327515"	""	""	""	"3"	""	"00000"	"{PMID:Gustafson 2017:28837078}"	"3-generation family, 3 affected (3F), unaffected heterozygous parents"	"F"	"yes"	"United States"	""	"0"	""	""	"Jewish-Ashkenazi "	"FamPatII4"
"00328082"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G004999"
"00328142"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G005543"
"00328152"	""	""	""	"1"	""	"00000"	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"F"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"Europe"	"G006005"
"00331334"	""	""	""	"3"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family, 3 affected (F, 2M)"	"F;M"	"yes"	""	""	"0"	""	""	"Arab"	"10DG1767, 10DG1768, 10DG1769"
"00331335"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"F"	"yes"	""	""	"0"	""	""	"Arab"	"11DG0973"
"00331336"	""	""	""	"2"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"family, 2 affected (F, M)"	"F;M"	"yes"	""	""	"0"	""	""	"Arab"	"13DG0374, 13DG0375"
"00358801"	""	""	""	"1"	""	"00000"	"{PMID:Zhang 2016:27596865}"	"simplex case"	"F"	""	"United States"	""	"0"	""	""	"Hispanic"	"BLM033"
"00362086"	""	""	""	"1"	""	"00006"	"{PMID:Huang 2016:26992781}"	""	""	""	"China"	""	"0"	""	""	""	"QT803"
"00362222"	""	""	""	"1"	""	"04043"	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Ireland"	""	"0"	""	""	""	"Pat6"
"00362223"	""	""	""	"1"	""	"04043"	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Ireland"	""	"0"	""	""	""	"Pat5"
"00363758"	""	""	""	"3"	""	"00006"	"{PMID:Patel 2016:26355662}"	"2-generation family, 3 affected"	""	""	"Saudi Arabia"	""	"0"	""	""	""	"10DG1769"
"00377177"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"242"
"00377193"	""	""	""	"1"	""	"00000"	"Tracewska 2021, MolVis in press"	"proband"	"M"	"no"	"Poland"	""	"0"	"yes"	""	"Slavic"	"269"
"00379814"	""	""	""	"1"	""	"00000"	"{PMID:Wang 2018:30029497}"	""	"F"	"?"	"China"	""	"0"	""	""	"Han Chinese"	"2017010402"
"00380303"	""	""	""	"3"	""	"00000"	"{PMID:Abu-Safieh-2013:23105016}"	"# affected:3 (2)"	""	""	"Saudi Arabia"	""	"0"	""	""	""	""
"00381891"	""	""	""	"1"	""	"00000"	"{PMID:Birtel 2018:30543658}"	""	"F"	""	"Germany"	""	"0"	""	""	""	"41"
"00386173"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-285"
"00386188"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-299"
"00386224"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-183, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-402"
"00386225"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-183, family member"	"M"	""	"Spain"	""	"0"	""	""	""	"RPN-403"
"00386260"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-238, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-608"
"00386272"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-58, family member"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-147"
"00386273"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	"family fRPN-58, proband"	"F"	""	"Spain"	""	"0"	""	""	""	"RPN-148"
"00387032"	""	""	""	"1"	""	"00000"	"{PMID:Jauregui 2020:32098976}"	""	"F"	""	"(United States)"	""	"0"	""	""	"white"	"58"
"00389526"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 326, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"810"
"00389734"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 520, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"1018"
"00389789"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 696, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1073"
"00393626"	""	""	""	"1"	""	"00000"	"{PMID:Liu-2020:33090715}"	""	"F"	""	""	""	"0"	""	""	""	""
"00435041"	""	""	""	"1"	""	"04500"	""	""	"M"	"no"	"China"	">07y"	"0"	""	"none"	""	""
"00436590"	""	""	""	"1"	""	"04552"	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	"M"	"no"	"Mexico"	""	""	""	"NONE"	"Hispanic"	"2701426"
"00447297"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"SRP-1198"
"00447538"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"CRD-803"
"00450776"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"067285"
"00450777"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"073880"
"00450778"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"074614"
"00467831"	""	""	""	"2"	""	"00006"	"{PMID:Hussain 2023:36833373}"	"2-generation family, affected brother/sister, unaffected parents"	"M"	""	"United States"	""	"0"	""	""	"Asia"	"MEP-662"
"00467832"	""	""	"00467831"	"1"	""	"00006"	"{PMID:Hussain 2023:36833373}"	"sister"	"F"	""	"United States"	""	"0"	""	""	"Asian"	"MEP-663"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 67
"{{individualid}}"	"{{diseaseid}}"
"00059794"	"00058"
"00104990"	"02804"
"00155393"	"04214"
"00209023"	"00381"
"00248833"	"05635"
"00248834"	"05635"
"00248835"	"05635"
"00248836"	"00058"
"00248837"	"00058"
"00303489"	"00198"
"00308604"	"04214"
"00308986"	"04214"
"00308987"	"04214"
"00308988"	"04214"
"00324526"	"04213"
"00327459"	"00198"
"00327460"	"00198"
"00327462"	"00198"
"00327504"	"04214"
"00327505"	"04214"
"00327506"	"04214"
"00327507"	"00198"
"00327508"	"00198"
"00327509"	"00198"
"00327510"	"00198"
"00327511"	"00198"
"00327512"	"00198"
"00327513"	"04214"
"00327514"	"04214"
"00327515"	"04214"
"00328082"	"04214"
"00328142"	"04214"
"00328152"	"04214"
"00331334"	"05517"
"00331335"	"05517"
"00331336"	"05517"
"00358801"	"04214"
"00362086"	"04214"
"00362222"	"04214"
"00362223"	"04214"
"00363758"	"04214"
"00377177"	"04214"
"00377193"	"04214"
"00379814"	"04214"
"00380303"	"04214"
"00381891"	"04214"
"00386173"	"04214"
"00386188"	"04214"
"00386224"	"04214"
"00386225"	"04214"
"00386260"	"04214"
"00386272"	"04214"
"00386273"	"04214"
"00387032"	"04214"
"00389526"	"04214"
"00389734"	"04214"
"00389789"	"04214"
"00393626"	"04214"
"00435041"	"00058"
"00436590"	"02156"
"00447297"	"00198"
"00447538"	"00198"
"00450776"	"04249"
"00450777"	"04249"
"00450778"	"04249"
"00467831"	"04214"
"00467832"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00058, 00198, 00381, 02156, 02804, 04213, 04214, 04249, 05517, 05635, 05876, 05877
## Count = 67
"{{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}}"
"0000046286"	"00058"	"00059794"	"00039"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000082883"	"00058"	"00104990"	"01244"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000127893"	"04214"	"00155393"	"01243"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000157629"	"00381"	"00209023"	"00006"	"Familial, autosomal recessive"	""	"Retinal dystrophy"	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000187801"	"05635"	"00248833"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"Jeune syndrome"	""
"0000187802"	"05635"	"00248834"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., narrow thorax, pelvic bone malformation, retinal degeneration due to cone-rod dystrophy in childhood, no impairment renal function"	""	""	""	""	""	""	""	""	"JBTS-33"	"Jeune syndrome"	""
"0000187803"	"05635"	"00248835"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., cone-rod dystrophy, severe scoliosis, hip dysplasia"	""	""	""	""	""	""	""	""	""	"Jeune syndrome"	""
"0000187805"	"00058"	"00248836"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., isolated cone-rod dystrophy, skeletal involvement"	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000187806"	"00058"	"00248837"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000230567"	"00198"	"00303489"	"01807"	"Unknown"	""	"Rod-cone dystrophy (HP:0000510)"	""	""	""	""	""	""	""	""	""	""	""
"0000234032"	"04214"	"00308604"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000234306"	"04214"	"00308986"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000234307"	"04214"	"00308987"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Leber congenital amaurosis"	""
"0000234308"	"04214"	"00308988"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone–rod dystrophy"	""
"0000243071"	"04213"	"00324526"	"03960"	"Familial, autosomal recessive"	""	"see paper; ..., decreased central vision (HP:0007663), extreme photophobia (HP:0000613), progressive visual loss in both eyes (HP:0000529), dyschromatopsia (HP:0007641), absent rod-and cone-mediated responses on ERG (HP:0007688)"	"06y"	"20y"	"photophobia, reduiced visual acuity"	""	""	""	""	""	""	"cone dystrophy"	""
"0000245773"	"00198"	"00327459"	"03818"	"Familial, autosomal recessive"	"64y"	"see paper; ..., amyotrophic lateral sclerosis (HP:0007354), retinitis pigmentosa (HP:0000510), slowly progressive generalized muscle weakness (HP:0003324), dysphagia (HP:0002015)see paper; ..., amyotrophic lateral sclerosis (HP:0007354), retinitis pigmentosa (HP:0000510), generalized muscle weakness (HP:0003324)"	""	""	""	""	""	""	""	""	""	"slowly progressive muscle weakness"	""
"0000245775"	"00198"	"00327460"	"03818"	"Familial, autosomal recessive"	"57y"	"see paper; ..., childhood retinitis pigmentosa (HP:0000510), 50s-muscle weakness (HP:0003324), 30s-Crohn’s disease (HP:0100280)"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000245781"	"00198"	"00327462"	"03818"	"Familial, autosomal recessive"	"30y"	"see paper; ..., 8m-leg bowing; 2y-hyperopic astigmatism; retinal dystrophy (HP:0000556); 3y-shortened and thickened ribs; narrow chest (HP:0000774), scoliosis (HP:0002650), short stature (HP:0004322)"	""	""	"hyperopic astigmatism"	""	""	""	""	""	""	""	""
"0000245785"	"04214"	"00327504"	"03818"	"Familial, autosomal recessive"	"39y"	"see paper; ..., early-onset retinal dystrophy (HP:0000556), nyctalopia (HP:0000662), retinal pigment epithelial mottling (HP:0007814), macular staphyloma"	""	""	""	""	""	""	""	""	"RDMS"	"retinital dystrophy"	""
"0000245786"	"04214"	"00327505"	"03818"	"Familial, autosomal recessive"	"30y"	"see paper; ..., early-onset retinal dystrophy (HP:0000556), nyctalopia (HP:0000662), retinal pigment epithelial mottling (HP:0007814), macular staphyloma"	""	""	""	""	""	""	""	""	"RDMS"	"retinital dystrophy"	""
"0000245787"	"04214"	"00327506"	"03818"	"Familial, autosomal recessive"	"12y"	"see paper; ..., early-onset retinal dystrophy (HP:0000556), nyctalopia (HP:0000662), retinal pigment epithelial mottling (HP:0007814), macular staphyloma"	""	""	""	""	""	""	""	""	"RDMS"	"retinital dystrophy"	""
"0000245788"	"00198"	"00327507"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SMDAX"	"axial spondylometaphyseal dysplasia"	""
"0000245789"	"00198"	"00327508"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SMDAX"	"axial spondylometaphyseal dysplasia"	""
"0000245790"	"00198"	"00327509"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SMDAX"	"axial spondylometaphyseal dysplasia"	""
"0000245791"	"00198"	"00327510"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SMDAX"	"axial spondylometaphyseal dysplasia"	""
"0000245792"	"00198"	"00327511"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SMDAX"	"axial spondylometaphyseal dysplasia"	""
"0000245793"	"00198"	"00327512"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"SMDAX"	"axial spondylometaphyseal dysplasia"	""
"0000245794"	"04214"	"00327513"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..., retinitis pigmentosa , short stature, nightblindness"	""	""	""	""	""	""	""	""	"RDMS"	"retinitis pigmentosa"	""
"0000245795"	"04214"	"00327514"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RDMS"	"retinitis pigmentosa"	""
"0000245796"	"04214"	"00327515"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	"RDMS"	"retinitis pigmentosa"	""
"0000246309"	"04214"	"00328082"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000246369"	"04214"	"00328142"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000246379"	"04214"	"00328152"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000249526"	"05517"	"00331334"	"00000"	"Familial, autosomal recessive"	""	"Short stature, Hypermetropia, Strabismus, Rhizomelia, Micrognathia, Generalized joint la No"	""	""	""	""	""	""	""	""	""	"skeletal dysplasia"	""
"0000249527"	"05517"	"00331335"	"00000"	"Familial, autosomal recessive"	""	"Retinal dystrophy, Short stature, Narrow chest,  Short ribs, Horizontal ribs, Skeletal dysplaYes"	""	""	""	""	""	""	""	""	""	"skeletal dysplasia"	""
"0000249528"	"05517"	"00331336"	"00000"	"Familial, autosomal recessive"	""	"Retinal dystrophy, Short stature, Narrow chest"	""	""	""	""	""	""	""	""	""	"skeletal dysplasia"	""
"0000254016"	"04214"	"00358801"	"00000"	"Unknown"	"36y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000257500"	"04214"	"00362086"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000257636"	"04214"	"00362222"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000257637"	"04214"	"00362223"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000259108"	"04214"	"00363758"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., short stature, cone-rod dystrophy"	""	""	""	""	""	""	""	""	"JATD"	"cone-rod dystrophy"	""
"0000272335"	"04214"	"00377177"	"00000"	"Familial, autosomal recessive"	"41y"	"see paper"	"3y"	"29y"	""	""	""	""	""	""	""	"retinal disease"	""
"0000272351"	"04214"	"00377193"	"00000"	"Familial, autosomal recessive"	"10y"	"see paper"	"8y"	"9y6m"	""	""	""	""	""	""	""	"retinal disease"	""
"0000273668"	"04214"	"00379814"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa?"	""
"0000274154"	"04214"	"00380303"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa (RP)"	""
"0000275733"	"04214"	"00381891"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000279976"	"04214"	"00386173"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000279991"	"04214"	"00386188"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280027"	"04214"	"00386224"	"00000"	"Familial, autosomal recessive"	"14y"	""	""	"5y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000280028"	"04214"	"00386225"	"00000"	"Familial, autosomal recessive"	"9y"	""	""	"5y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000280063"	"04214"	"00386260"	"00000"	"Familial, autosomal dominant"	"41y"	""	""	"21y"	""	""	""	""	""	""	"macular dystrophy"	""	""
"0000280075"	"04214"	"00386272"	"00000"	"Familial, autosomal recessive"	"61y"	""	""	"15y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000280076"	"04214"	"00386273"	"00000"	"Familial, autosomal recessive"	"64y"	""	""	"25y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000280810"	"04214"	"00387032"	"00000"	"Familial, autosomal recessive"	"13y"	""	""	""	""	""	""	""	""	""	"Retinitis pigmentosa, autosomal recessive"	""	""
"0000283067"	"04214"	"00389526"	"00000"	"Familial, autosomal recessive"	"14y"	"age at genetic diagnosis mentioned"	""	"11y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283275"	"04214"	"00389734"	"00000"	"Isolated (sporadic)"	"43y"	"age at genetic diagnosis mentioned"	""	"43y"	""	""	""	""	""	""	"sporadic retinitis pigmentosa"	""	""
"0000283330"	"04214"	"00389789"	"00000"	"Familial, autosomal recessive"	"50y"	"age at genetic diagnosis mentioned"	""	"48y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000286832"	"04214"	"00393626"	"00000"	"Isolated (sporadic)"	"50y"	""	""	""	""	""	""	""	""	""	""	"Retinitis Pigmentosa (RP)"	""
"0000325279"	"00058"	"00435041"	"04500"	"Familial, autosomal recessive"	"06y"	""	""	""	""	""	""	""	""	""	""	""	""
"0000336496"	"00198"	"00447297"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, simplex"	""
"0000336737"	"00198"	"00447538"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000339831"	"04249"	"00450776"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000339832"	"04249"	"00450777"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000339833"	"04249"	"00450778"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000340362"	"02156"	"00436590"	"04552"	"Unknown"	"38y"	"Retinal dystrophy (HP:0000556)"	"24y"	"38y"	"Retinal dystrophy (HP:0000556) 24y"	""	""	""	""	""	"#617547"	"Cone-rod dystrophy"	""
"0000352985"	"04214"	"00467831"	"00006"	"Familial, autosomal recessive"	"3y"	"see paper; ..., BVCA right 20/70+1, left 20/70+1; gradual tilting RNFL over time; primary congenital glaucoma, subnormal visual acuity, severe cone and mild rod dysfunction"	"12y"	""	""	""	""	""	""	""	"RDMS"	"cone–rod dystrophy"	""
"0000352986"	"04214"	"00467832"	"00006"	"Familial, autosomal recessive"	"1y"	"see paper; ..., BVCA right 20/150 , left 20/150+1; low vision from cone–rod dystrophy; hyperopia, nystagmus, astigmatism, intermittent exotropia OU, progressive cone–rod dystrophy"	"9y"	""	""	""	""	""	""	""	"RDMS"	"cone–rod dystrophy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 67
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000059781"	"00059794"	"1"	"00039"	"00008"	"2012-09-24 14:42:04"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000105466"	"00104990"	"1"	"01244"	"01244"	"2017-06-14 15:54:36"	""	""	"SEQ-NG-I"	"DNA"	"Whole blood"	""
"0000156258"	"00155393"	"1"	"01243"	"01243"	"2018-03-18 14:37:15"	""	""	"SEQ"	"DNA"	""	""
"0000210080"	"00209023"	"1"	"00006"	"00006"	"2018-12-22 15:10:51"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000249935"	"00248833"	"1"	"00006"	"00006"	"2019-07-28 13:59:18"	"00006"	"2019-07-28 14:04:30"	"SEQ"	"DNA"	""	"WES"
"0000249936"	"00248834"	"1"	"00006"	"00006"	"2019-07-28 13:59:18"	"00006"	"2019-07-28 14:08:58"	"SEQ"	"DNA"	""	""
"0000249937"	"00248835"	"1"	"00006"	"00006"	"2019-07-28 13:59:18"	"00006"	"2019-07-28 14:17:13"	"SEQ"	"DNA"	""	""
"0000249938"	"00248836"	"1"	"00006"	"00006"	"2019-07-28 13:59:18"	"00006"	"2019-07-28 14:21:58"	"SEQ"	"DNA"	""	""
"0000249939"	"00248837"	"1"	"00006"	"00006"	"2019-07-28 14:26:52"	""	""	"RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000304618"	"00303489"	"1"	"01807"	"01807"	"2020-06-15 09:25:01"	""	""	"SEQ"	"DNA"	""	""
"0000309749"	"00308604"	"1"	"00004"	"00006"	"2020-08-27 13:01:07"	""	""	"SEQ"	"DNA"	""	""
"0000310131"	"00308986"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310132"	"00308987"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000310133"	"00308988"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000325718"	"00324526"	"1"	"03960"	"03960"	"2020-12-18 10:26:14"	"00006"	"2021-01-05 14:19:27"	"SEQ;SEQ-NG"	"DNA"	"Blood"	"WES"
"0000328671"	"00327459"	"1"	"03818"	"03818"	"2021-01-21 19:07:04"	""	""	"SEQ"	"DNA"	""	""
"0000328672"	"00327460"	"1"	"03818"	"03818"	"2021-01-21 19:18:59"	""	""	"SEQ"	"DNA"	""	""
"0000328675"	"00327462"	"1"	"03818"	"03818"	"2021-01-21 21:29:42"	""	""	"SEQ"	"DNA"	""	""
"0000328719"	"00327504"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328720"	"00327505"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328721"	"00327506"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328722"	"00327507"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328723"	"00327508"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328724"	"00327509"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000328725"	"00327510"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"RT-PCR;SEQ;SEQ-NG"	"DNA;RNA"	""	"WES"
"0000328726"	"00327511"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328727"	"00327512"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328728"	"00327513"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328729"	"00327514"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000328730"	"00327515"	"1"	"00000"	"00006"	"2021-01-22 17:16:18"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES;WGS"
"0000329297"	"00328082"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329357"	"00328142"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000329367"	"00328152"	"1"	"00000"	"00006"	"2021-01-27 12:09:59"	""	""	"SEQ-NG"	"DNA"	""	"WES and WGS"
"0000332553"	"00331334"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332554"	"00331335"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000332555"	"00331336"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360031"	"00358801"	"1"	"00000"	"00006"	"2021-03-12 09:26:03"	""	""	"SEQ-NG"	"DNA"	""	"226-gene panel"
"0000363315"	"00362086"	"1"	"00006"	"00006"	"2021-04-15 14:35:20"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000363451"	"00362222"	"1"	"04043"	"00006"	"2021-04-16 13:26:31"	""	""	"SEQ-NG"	"DNA"	""	""
"0000363452"	"00362223"	"1"	"04043"	"00006"	"2021-04-16 13:26:31"	""	""	"SEQ-NG"	"DNA"	""	""
"0000364986"	"00363758"	"1"	"00006"	"00006"	"2021-04-29 16:56:57"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000378382"	"00377177"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel; WES"
"0000378398"	"00377193"	"1"	"00000"	"03840"	"2021-07-16 14:18:12"	"00006"	"2021-08-06 16:49:30"	"SEQ-NG-I;SEQ"	"DNA"	"blood"	"targeted resequencing using MIPs library prep; 108-gene panel"
"0000381016"	"00379814"	"1"	"00000"	"03840"	"2021-08-10 08:08:19"	""	""	"SEQ-NG"	"DNA"	""	"panel of 441 hereditary eye disease genes including 291 genes related to IRD"
"0000381517"	"00380303"	"1"	"00000"	"00008"	"2021-08-13 14:56:11"	""	""	"SEQ-NG;SEQ"	"DNA"	"blood"	"autozygome-guided sequencing"
"0000383107"	"00381891"	"1"	"00000"	"03840"	"2021-09-06 14:05:57"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000387402"	"00386173"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387417"	"00386188"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387453"	"00386224"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387454"	"00386225"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387489"	"00386260"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387501"	"00386272"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387502"	"00386273"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000388258"	"00387032"	"1"	"00000"	"03840"	"2021-10-28 13:59:26"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted sequencing"
"0000390769"	"00389526"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390977"	"00389734"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391032"	"00389789"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000394874"	"00393626"	"1"	"00000"	"00008"	"2021-11-30 07:46:38"	""	""	"SEQ-NG"	"DNA"	""	"hereditary eye disease enrichment panel (HEDEP)"
"0000436512"	"00435041"	"1"	"04500"	"04500"	"2023-04-29 03:28:24"	""	""	"SEQ;SEQ-NG-I"	"DNA"	"Blood"	""
"0000438225"	"00436590"	"1"	"04552"	"04552"	"2023-09-30 00:43:05"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000448874"	"00447297"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449115"	"00447538"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000452374"	"00450776"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452375"	"00450777"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452376"	"00450778"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000469497"	"00467831"	"1"	"00006"	"00006"	"2025-10-31 22:30:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"
"0000469498"	"00467832"	"1"	"00006"	"00006"	"2025-10-31 22:30:31"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WGS"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 68
"{{screeningid}}"	"{{geneid}}"
"0000059781"	"C21orf2"
"0000156258"	"C21orf2"
"0000210080"	"C21orf2"
"0000249935"	"C21orf2"
"0000249936"	"C21orf2"
"0000249937"	"C21orf2"
"0000249938"	"C21orf2"
"0000249939"	"C21orf2"
"0000309749"	"C21orf2"
"0000310131"	"C21orf2"
"0000310132"	"C21orf2"
"0000310133"	"C21orf2"
"0000325718"	"POC1B"
"0000328671"	"C21orf2"
"0000328672"	"C21orf2"
"0000328675"	"C21orf2"
"0000328719"	"C21orf2"
"0000328720"	"C21orf2"
"0000328721"	"C21orf2"
"0000328722"	"C21orf2"
"0000328723"	"C21orf2"
"0000328724"	"C21orf2"
"0000328725"	"C21orf2"
"0000328726"	"C21orf2"
"0000328727"	"C21orf2"
"0000328728"	"C21orf2"
"0000328729"	"C21orf2"
"0000328730"	"C21orf2"
"0000329297"	"C21orf2"
"0000329357"	"C21orf2"
"0000329367"	"C21orf2"
"0000332553"	"C21orf2"
"0000332554"	"C21orf2"
"0000332555"	"C21orf2"
"0000360031"	"C21orf2"
"0000363315"	"C21orf2"
"0000363451"	"C21orf2"
"0000363452"	"C21orf2"
"0000364986"	"C21orf2"
"0000378382"	"C21orf2"
"0000378398"	"C21orf2"
"0000381016"	"C21orf2"
"0000381517"	"C21orf2"
"0000383107"	"C21orf2"
"0000387402"	"C21orf2"
"0000387417"	"C21orf2"
"0000387453"	"C21orf2"
"0000387454"	"C21orf2"
"0000387489"	"PRPH2"
"0000387501"	"C21orf2"
"0000387502"	"C21orf2"
"0000388258"	"C21orf2"
"0000390769"	"C21orf2"
"0000390977"	"C21orf2"
"0000391032"	"C21orf2"
"0000394874"	"C21orf2"
"0000436512"	"C21orf2"
"0000436512"	"CEP250"
"0000436512"	"CEP290"
"0000436512"	"HMCN1"
"0000436512"	"IARS2"
"0000436512"	"MAK"
"0000436512"	"MPDZ"
"0000436512"	"MYO7A"
"0000436512"	"SLC7A14"
"0000436512"	"USH2A"
"0000436512"	"WFS1"
"0000438225"	"C21orf2"


## 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 = 151
"{{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}}"
"0000090897"	"3"	"90"	"21"	"45755681"	"45755681"	"del"	"0"	"00039"	"C21orf2_000001"	"g.45755681del"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44335798del"	""	"pathogenic"	""
"0000170883"	"21"	"70"	"21"	"45753003"	"45753003"	"subst"	"0"	"01244"	"C21orf2_000003"	"g.45753003C>T"	""	"{PMID:de Castro-Miró 2016:28005958}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.44333120C>T"	""	"likely pathogenic"	"ACMG"
"0000170884"	"11"	"90"	"21"	"45750716"	"45750717"	"del"	"0"	"01244"	"C21orf2_000002"	"g.45750716_45750717del"	""	"{PMID:de Castro-Miró 2016:28005958}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44330833_44330834del"	""	"pathogenic"	"ACMG"
"0000263839"	"0"	"10"	"21"	"45750112"	"45750112"	"subst"	"0.00120242"	"02330"	"C21orf2_000004"	"g.45750112C>T"	""	""	""	"CFAP410(NM_001271441.2):c.1097G>A (p.R366H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44330229C>T"	""	"benign"	""
"0000263840"	"0"	"10"	"21"	"45755646"	"45755646"	"subst"	"0.000650728"	"02330"	"C21orf2_000014"	"g.45755646C>T"	""	""	""	"CFAP410(NM_001271441.2):c.138G>A (p.T46=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44335763C>T"	""	"benign"	""
"0000263841"	"0"	"30"	"21"	"45753113"	"45753113"	"subst"	"0"	"02330"	"C21orf2_000012"	"g.45753113C>T"	""	""	""	"CFAP410(NM_001271441.2):c.176G>A (p.S59N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44333230C>T"	""	"likely benign"	""
"0000263842"	"0"	"50"	"21"	"45753065"	"45753065"	"subst"	"0.000115876"	"02330"	"C21orf2_000011"	"g.45753065G>A"	""	""	""	"CFAP410(NM_001271441.2):c.224C>T (p.P75L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44333182G>A"	""	"VUS"	""
"0000263843"	"0"	"30"	"21"	"45751873"	"45751873"	"subst"	"0.000305263"	"02330"	"C21orf2_000010"	"g.45751873C>T"	""	""	""	"CFAP410(NM_001271441.2):c.398G>A (p.R133H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44331990C>T"	""	"likely benign"	""
"0000263844"	"0"	"10"	"21"	"45750610"	"45750610"	"subst"	"3.49606E-5"	"02330"	"C21orf2_000008"	"g.45750610G>A"	""	""	""	"CFAP410(NM_001271441.2):c.735C>T (p.P245=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44330727G>A"	""	"benign"	""
"0000263846"	"0"	"10"	"21"	"45750444"	"45750444"	"subst"	"0.000687612"	"02330"	"C21orf2_000007"	"g.45750444C>T"	""	""	""	"C21orf2(NM_001271441.1):c.901G>A (p.G301R), CFAP410(NM_001271441.2):c.901G>A (p.G301R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44330561C>T"	""	"benign"	""
"0000272267"	"0"	"50"	"21"	"45753117"	"45753117"	"subst"	"0.00803041"	"01943"	"C21orf2_000013"	"g.45753117C>A"	""	""	""	"C21orf2(NM_001271440.1):c.172G>T (p.(Val58Leu)), C21orf2(NM_001271441.1):c.172G>T (p.V58L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44333234C>A"	""	"VUS"	""
"0000272268"	"0"	"30"	"21"	"45759060"	"45759060"	"subst"	"0.000263062"	"01943"	"C21orf2_000016"	"g.45759060C>T"	""	""	""	"C21orf2(NM_001271441.1):c.18G>A (p.K6=), CFAP410(NM_001271441.2):c.18G>A (p.K6=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44339177C>T"	""	"likely benign"	""
"0000272269"	"0"	"50"	"21"	"45750761"	"45750761"	"subst"	"4.30994E-5"	"01943"	"C21orf2_000009"	"g.45750761C>T"	""	""	""	"C21orf2(NM_001271441.1):c.584G>A (p.R195Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44330878C>T"	""	"VUS"	""
"0000272270"	"0"	"10"	"21"	"45750444"	"45750444"	"subst"	"0.000687612"	"01943"	"C21orf2_000007"	"g.45750444C>T"	""	""	""	"C21orf2(NM_001271441.1):c.901G>A (p.G301R), CFAP410(NM_001271441.2):c.901G>A (p.G301R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44330561C>T"	""	"benign"	""
"0000272271"	"0"	"10"	"21"	"45750391"	"45750391"	"subst"	"0.000706013"	"01943"	"C21orf2_000006"	"g.45750391C>T"	""	""	""	"C21orf2(NM_001271441.1):c.954G>A (p.T318=), CFAP410(NM_001271441.2):c.954G>A (p.T318=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44330508C>T"	""	"benign"	""
"0000272272"	"0"	"30"	"21"	"45750355"	"45750355"	"subst"	"0.009904"	"01943"	"C21orf2_000005"	"g.45750355C>T"	""	""	""	"C21orf2(NM_001271441.1):c.990G>A (p.P330=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44330472C>T"	""	"likely benign"	""
"0000343324"	"0"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"02327"	"C21orf2_000019"	"g.45753071C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic"	""
"0000350244"	"0"	"50"	"21"	"45752958"	"45752958"	"subst"	"2.57257E-5"	"02327"	"C21orf2_000018"	"g.45752958C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.44333075C>T"	""	"VUS"	""
"0000358180"	"3"	"90"	"21"	"45750210"	"45750210"	"subst"	"0"	"01243"	"C21orf2_000020"	"g.45750210G>C"	""	"Sharon, submitted"	""	"NM_001271441.1:c.1000-1C>G"	""	"Germline"	""	""	"0"	""	""	"g.44330327C>G"	""	"pathogenic"	""
"0000441250"	"3"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00006"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Lionel 2018:28771251}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic (recessive)"	""
"0000570791"	"0"	"10"	"21"	"45750089"	"45750089"	"subst"	"0.000653343"	"02330"	"C21orf2_000022"	"g.45750089C>T"	""	""	""	"CFAP410(NM_001271441.2):c.1120G>A (p.A374T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44330206C>T"	""	"benign"	""
"0000570792"	"0"	"50"	"21"	"45750179"	"45750179"	"subst"	"0.000115936"	"02330"	"C21orf2_000023"	"g.45750179G>A"	""	""	""	"CFAP410(NM_001271441.2):c.1030C>T (p.R344W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44330296G>A"	""	"VUS"	""
"0000570793"	"0"	"30"	"21"	"45750339"	"45750339"	"subst"	"0"	"01943"	"C21orf2_000024"	"g.45750339G>A"	""	""	""	"C21orf2(NM_001271441.1):c.999+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44330456G>A"	""	"likely benign"	""
"0000570794"	"0"	"30"	"21"	"45750340"	"45750340"	"subst"	"0.000810768"	"01943"	"C21orf2_000025"	"g.45750340A>G"	""	""	""	"C21orf2(NM_001271441.1):c.999+6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44330457A>G"	""	"likely benign"	""
"0000570796"	"0"	"30"	"21"	"45750645"	"45750645"	"subst"	"6.78527E-6"	"01943"	"C21orf2_000027"	"g.45750645T>C"	""	""	""	"C21orf2(NM_001271441.1):c.700A>G (p.T234A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44330762T>C"	""	"likely benign"	""
"0000570798"	"0"	"90"	"21"	"45750687"	"45750696"	"dup"	"0"	"02330"	"C21orf2_000029"	"g.45750687_45750696dup"	""	""	""	"CFAP410(NM_001271441.2):c.656_665dup (p.(Ala223ArgfsTer38)), CFAP410(NM_001271441.2):c.656_665dupTAGGGGCCGC (p.A223Rfs*38)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44330804_44330813dup"	""	"pathogenic"	""
"0000570799"	"0"	"50"	"21"	"45750770"	"45750770"	"subst"	"4.33599E-5"	"01943"	"C21orf2_000030"	"g.45750770G>A"	""	""	""	"C21orf2(NM_001271441.1):c.575C>T (p.P192L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44330887G>A"	""	"VUS"	""
"0000570800"	"0"	"10"	"21"	"45750787"	"45750787"	"subst"	"5.30748E-5"	"02330"	"C21orf2_000031"	"g.45750787A>G"	""	""	""	"CFAP410(NM_001271441.2):c.558T>C (p.D186=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44330904A>G"	""	"benign"	""
"0000570802"	"0"	"50"	"21"	"45751891"	"45751891"	"subst"	"9.79924E-5"	"02330"	"C21orf2_000033"	"g.45751891G>A"	""	""	""	"CFAP410(NM_001271441.2):c.380C>T (p.T127M), CFAP410(NM_004928.3):c.380C>T (p.(Thr127Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44332008G>A"	""	"VUS"	""
"0000570803"	"0"	"30"	"21"	"45752959"	"45752959"	"subst"	"0"	"02330"	"C21orf2_000034"	"g.45752959G>C"	""	""	""	"CFAP410(NM_001271441.2):c.330C>G (p.T110=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44333076G>C"	""	"likely benign"	""
"0000570804"	"0"	"50"	"21"	"45753072"	"45753072"	"subst"	"1.65715E-5"	"02327"	"C21orf2_000035"	"g.45753072G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44333189G>A"	""	"VUS"	""
"0000570805"	"0"	"30"	"21"	"45753117"	"45753117"	"subst"	"0.00803041"	"01804"	"C21orf2_000013"	"g.45753117C>A"	""	""	""	"C21orf2(NM_001271440.1):c.172G>T (p.(Val58Leu)), C21orf2(NM_001271441.1):c.172G>T (p.V58L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44333234C>A"	""	"likely benign"	""
"0000570806"	"0"	"30"	"21"	"45753152"	"45753152"	"subst"	"0"	"01943"	"C21orf2_000036"	"g.45753152G>A"	""	""	""	"C21orf2(NM_001271441.1):c.144-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44333269G>A"	""	"likely benign"	""
"0000570807"	"0"	"50"	"21"	"45754001"	"45754001"	"subst"	"0"	"02327"	"C21orf2_000037"	"g.45754001G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44334118G>A"	""	"VUS"	""
"0000570808"	"0"	"30"	"21"	"45755633"	"45755633"	"subst"	"0.00012909"	"01943"	"C21orf2_000038"	"g.45755633C>T"	""	""	""	"C21orf2(NM_001271441.1):c.143+8G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44335750C>T"	""	"likely benign"	""
"0000570809"	"0"	"10"	"21"	"45758963"	"45758964"	"ins"	"0"	"02330"	"C21orf2_000039"	"g.45758963_45758964insTCCGGCTCCGCCCTCGCCCCGCCCCTGCTCCTCCC"	""	""	""	"CFAP410(NM_001271441.2):c.77+46_77+47ins35"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44339080_44339081insTCCGGCTCCGCCCTCGCCCCGCCCCTGCTCCTCCC"	""	"benign"	""
"0000570810"	"0"	"50"	"21"	"45759020"	"45759020"	"subst"	"0"	"02327"	"C21orf2_000040"	"g.45759020C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44339137C>T"	""	"VUS"	""
"0000570811"	"0"	"10"	"21"	"45759060"	"45759060"	"subst"	"0.000263062"	"02330"	"C21orf2_000016"	"g.45759060C>T"	""	""	""	"C21orf2(NM_001271441.1):c.18G>A (p.K6=), CFAP410(NM_001271441.2):c.18G>A (p.K6=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44339177C>T"	""	"benign"	""
"0000579012"	"11"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00006"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Wheway 2015:26167768}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic (recessive)"	""
"0000579013"	"21"	"90"	"21"	"45750181"	"45750181"	"subst"	"0"	"00006"	"C21orf2_000041"	"g.45750181A>G"	""	"{PMID:Wheway 2015:26167768}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44330298A>G"	""	"pathogenic (recessive)"	""
"0000579014"	"1"	"90"	"21"	"45751790"	"45751791"	"ins"	"0"	"00006"	"C21orf2_000042"	"g.45751790_45751791insA"	""	"{PMID:Wheway 2015:26167768}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44331907_44331908insA"	""	"pathogenic (recessive)"	""
"0000579015"	"2"	"70"	"21"	"45757526"	"45757526"	"subst"	"1.62677E-5"	"00006"	"C21orf2_000043"	"g.45757526A>T"	""	"{PMID:Wheway 2015:26167768}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.44337643A>T"	""	"likely pathogenic"	""
"0000579016"	"3"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00006"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Wheway 2015:26167768}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic (recessive)"	""
"0000579017"	"3"	"90"	"21"	"45755681"	"45755681"	"del"	"0"	"00006"	"C21orf2_000044"	"g.45755681del"	""	"{PMID:Wheway 2015:26167768}"	""	"103delA"	""	"Germline"	""	""	"0"	""	""	"g.44335798del"	""	"pathogenic (recessive)"	""
"0000579018"	"3"	"90"	"21"	"45751725"	"45751725"	"subst"	"0"	"00006"	"C21orf2_000045"	"g.45751725C>A"	""	"{PMID:Wheway 2015:26167768}"	""	"545+1C>T"	""	"Germline"	""	""	"0"	""	""	"g.44331842C>A"	""	"pathogenic (recessive)"	""
"0000618392"	"0"	"30"	"21"	"45750579"	"45750644"	"dup"	"0"	"01804"	"C21orf2_000046"	"g.45750579_45750644dup"	""	""	""	"C21orf2(NM_001271441.1):c.766_767insCCGTGGGGAGGGAGCATGGAGCCTCACAGGGCCCCGTGGGGAGGGAGCATGGAGCCTCACAGGGCC (p.(Gly255_Leu256insProValGlyArgGluHisGlyA...))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44330696_44330761dup"	""	"likely benign"	""
"0000618393"	"0"	"10"	"21"	"45751706"	"45751706"	"subst"	"8.56282E-6"	"02330"	"C21orf2_000047"	"g.45751706C>T"	""	""	""	"CFAP410(NM_001271441.2):c.545+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44331823C>T"	""	"benign"	""
"0000618394"	"0"	"30"	"21"	"45751749"	"45751749"	"subst"	"0.000182471"	"01943"	"C21orf2_000048"	"g.45751749C>A"	""	""	""	"CFAP410(NM_001271441.1):c.522G>T (p.P174=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44331866C>A"	""	"likely benign"	""
"0000618395"	"0"	"30"	"21"	"45751835"	"45751835"	"subst"	"8.15987E-6"	"01943"	"C21orf2_000050"	"g.45751835C>G"	""	""	""	"C21orf2(NM_001271441.1):c.436G>C (p.E146Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44331952C>G"	""	"likely benign"	""
"0000624229"	"0"	"30"	"21"	"45751766"	"45751766"	"subst"	"0.000234504"	"01943"	"C21orf2_000049"	"g.45751766C>T"	""	""	""	"CFAP410(NM_001271441.1):c.505G>A (p.E169K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.44331883C>T"	""	"likely benign"	""
"0000668099"	"0"	"90"	"21"	"45759019"	"45759022"	"del"	"0"	"01807"	"C21orf2_000051"	"g.45759019_45759022del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44339136_44339139del"	""	"pathogenic"	""
"0000668100"	"0"	"70"	"21"	"45751835"	"45751836"	"del"	"0"	"01807"	"C21orf2_000052"	"g.45751835_45751836del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.44331952_44331953del"	""	"likely pathogenic"	""
"0000684622"	"3"	"70"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00004"	"C21orf2_000019"	"g.45753071C>G"	"1/899 cases"	"{PMID:Holtan 2020:31429209}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"likely pathogenic (recessive)"	""
"0000685042"	"0"	"90"	"21"	"45750210"	"45750210"	"subst"	"0"	"00004"	"C21orf2_000053"	"g.45750210C>G"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"NM_001271441.1:c.1000-1G>C"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685043"	"0"	"90"	"21"	"45750211"	"45750211"	"subst"	"0"	"00004"	"C21orf2_000054"	"g.45750211T>C"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	"NM_001271441.1:c.1000-2A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000685044"	"0"	"70"	"21"	"45752925"	"45752925"	"subst"	"0"	"00004"	"C21orf2_000055"	"g.45752925C>T"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000693063"	"0"	"30"	"21"	"45751826"	"45751826"	"subst"	"8.1982E-6"	"01943"	"C21orf2_000056"	"g.45751826C>G"	""	""	""	"CFAP410(NM_001271441.1):c.445G>C (p.G149R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000710803"	"0"	"70"	"21"	"45750179"	"45750179"	"subst"	"0.000115936"	"00006"	"C21orf2_000023"	"g.45750179G>A"	""	"{PMID:Kominami 2019:31390656}, {PMID:Kominami 2017:29220607}, {DOI:Kominami 2017:10.1080/13816810.2017.1408846}"	""	"NM_001271442:C547T"	""	"Germline"	""	"rs757586462"	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000712635"	"3"	"70"	"21"	"45752970"	"45752970"	"subst"	"1.27981E-5"	"03818"	"C21orf2_000057"	"g.45752970A>G"	""	"{PMID:Kurashige 2019:31431468}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44333087A>G"	""	"likely pathogenic (recessive)"	""
"0000712636"	"3"	"70"	"21"	"45752970"	"45752970"	"subst"	"1.27981E-5"	"03818"	"C21orf2_000057"	"g.45752970A>G"	""	"{PMID:Kurashige 2019:31431468}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44333087A>G"	""	"likely pathogenic (recessive)"	""
"0000712643"	"3"	"70"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"03818"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:McInerney-Leo 2017:28422394}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"likely pathogenic (recessive)"	""
"0000712743"	"3"	"90"	"21"	"45751814"	"45751844"	"del"	"0"	"00000"	"C21orf2_000060"	"g.45751814_45751844del"	""	"{PMID:Khan 2015:26294103}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44331931_44331961del"	""	"pathogenic (recessive)"	""
"0000712744"	"3"	"90"	"21"	"45751814"	"45751844"	"del"	"0"	"00000"	"C21orf2_000060"	"g.45751814_45751844del"	""	"{PMID:Khan 2015:26294103}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44331931_44331961del"	""	"pathogenic (recessive)"	""
"0000712745"	"3"	"90"	"21"	"45753107"	"45753107"	"subst"	"0"	"00000"	"C21orf2_000063"	"g.45753107C>T"	""	"{PMID:Khan 2015:26294103}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333224C>T"	""	"pathogenic (recessive)"	""
"0000712746"	"3"	"70"	"21"	"45750232"	"45750232"	"subst"	"0"	"00000"	"C21orf2_000059"	"g.45750232T>A"	""	"{PMID:Wang 2016:26974433}"	""	""	"predicted branch-point splice variant"	"Germline"	"yes"	""	"0"	""	""	"g.44330349T>A"	""	"likely pathogenic (recessive)"	""
"0000712747"	"1"	"70"	"21"	"45752970"	"45752970"	"subst"	"1.27981E-5"	"00000"	"C21orf2_000057"	"g.45752970A>G"	""	"{PMID:Wang 2016:26974433}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333087A>G"	""	"likely pathogenic (recessive)"	""
"0000712748"	"3"	"70"	"21"	"45751725"	"45751725"	"subst"	"1.25508E-5"	"00000"	"C21orf2_000058"	"g.45751725C>T"	""	"{PMID:Wang 2016:26974433}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44331842C>T"	""	"likely pathogenic (recessive)"	""
"0000712749"	"3"	"70"	"21"	"45750232"	"45750232"	"subst"	"0"	"00000"	"C21orf2_000059"	"g.45750232T>A"	""	"{PMID:Wang 2016:26974433}"	""	""	"predicted branch-point splice variant"	"Germline"	""	"rs140451304"	"0"	""	""	"g.44330349T>A"	""	"likely pathogenic (recessive)"	""
"0000712750"	"3"	"70"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00000"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Wang 2016:26974433}"	""	""	""	"Germline"	"yes"	"rs140451304"	"0"	""	""	"g.44333188C>G"	""	"likely pathogenic (recessive)"	""
"0000712751"	"3"	"70"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00000"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Wang 2016:26974433}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"likely pathogenic (recessive)"	""
"0000712752"	"21"	"70"	"21"	"45752970"	"45752970"	"subst"	"1.27981E-5"	"00000"	"C21orf2_000057"	"g.45752970A>G"	""	"{PMID:Suga 2016:27548899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44333087A>G"	""	"likely pathogenic (recessive)"	""
"0000712753"	"3"	"70"	"21"	"45752969"	"45752969"	"subst"	"4.2684E-6"	"00000"	"C21orf2_000062"	"g.45752969T>C"	""	"{PMID:Suga 2016:27548899}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44333086T>C"	""	"likely pathogenic (recessive)"	""
"0000712754"	"3"	"70"	"21"	"45755728"	"45756862"	"del"	"0"	"00000"	"C21orf2_000064"	"g.45755728_45756862del"	""	"{PMID:Gustafson 2017:28837078}"	""	"hg19 45755728-45756862del"	"1135bp deletion"	"Germline"	"yes"	""	"0"	""	""	"g.44335845_44336979del"	""	"likely pathogenic (recessive)"	""
"0000712755"	"2"	"70"	"21"	"45752942"	"45752942"	"subst"	"6.07813E-5"	"00000"	"C21orf2_000061"	"g.45752942G>A"	""	"{PMID:Wang 2016:26974433}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333059G>A"	""	"likely pathogenic (recessive)"	""
"0000712756"	"11"	"70"	"21"	"45752958"	"45752958"	"subst"	"2.57257E-5"	"00000"	"C21orf2_000018"	"g.45752958C>T"	""	"{PMID:Suga 2016:27548899}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333075C>T"	""	"likely pathogenic (recessive)"	""
"0000713420"	"1"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00000"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"21:45753071C>G ENST00000397956.3:c.218G>C (Arg73Pro)"	""	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic (recessive)"	""
"0000713480"	"1"	"90"	"21"	"45753020"	"45753020"	"subst"	"0"	"00000"	"C21orf2_000065"	"g.45753020C>G"	""	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"21:45753020C>G ENST00000397956.3:c.269G>C (Arg90Pro)"	""	"Germline"	""	""	"0"	""	""	"g.44333137C>G"	""	"pathogenic (recessive)"	""
"0000713490"	"3"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00000"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"21:45753071C>G ENST00000397956.3:c.218G>C (Arg73Pro)"	""	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic (recessive)"	""
"0000713766"	"2"	"90"	"21"	"45759044"	"45759045"	"ins"	"4.4619E-5"	"00000"	"C21orf2_000073"	"g.45759044_45759045insTGCACGCTGTGCAGCT"	""	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"21:45759044C>CTGCACGCTGTGCAGCT ENST00000397956.3:c.33_34insAGCTGCACAGCGTGCA (Ala12SerfsTer60)"	""	"Germline"	""	""	"0"	""	""	"g.44339161_44339162insTGCACGCTGTGCAGCT"	""	"pathogenic (recessive)"	""
"0000713800"	"2"	"90"	"21"	"45759044"	"45759045"	"ins"	"4.4619E-5"	"00000"	"C21orf2_000073"	"g.45759044_45759045insTGCACGCTGTGCAGCT"	""	"{PMID:Carss 2017:28041643}, {PMID:Turro 2020:32581362}"	""	"21:45759044C>CTGCACGCTGTGCAGCT ENST00000397956.3:c.33_34insAGCTGCACAGCGTGCA (Ala12SerfsTer60)"	""	"Germline"	""	""	"0"	""	""	"g.44339161_44339162insTGCACGCTGTGCAGCT"	""	"pathogenic (recessive)"	""
"0000727938"	"0"	"50"	"21"	"45750598"	"45750598"	"subst"	"7.01125E-6"	"01943"	"C21orf2_000067"	"g.45750598C>A"	""	""	""	"CFAP410(NM_001271441.1):c.747G>T (p.E249D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000727939"	"0"	"50"	"21"	"45750608"	"45750608"	"subst"	"0.000237942"	"01943"	"C21orf2_000068"	"g.45750608A>C"	""	""	""	"CFAP410(NM_001271441.1):c.737T>G (p.V246G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000729835"	"3"	"90"	"21"	"45750232"	"45750232"	"subst"	"0"	"00000"	"C21orf2_000059"	"g.45750232T>A"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_001271441.1:c.1000-23A>T:p.(Asn334Valfs*140)"	""	"Germline"	""	""	"0"	""	""	"g.44330349T>A"	""	"pathogenic (recessive)"	""
"0000729836"	"3"	"90"	"21"	"45755681"	"45755681"	"del"	"0"	"00000"	"C21orf2_000001"	"g.45755681del"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_001271441.1:c.103delA:p.(Ile35Phefs*10)"	""	"Germline"	""	""	"0"	""	""	"g.44335798del"	""	"pathogenic (recessive)"	""
"0000729837"	"3"	"90"	"21"	"45750232"	"45750232"	"subst"	"0"	"00000"	"C21orf2_000059"	"g.45750232T>A"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_001271441.1:c.1000-23A>T:p.(Asn334Valfs*140)"	""	"Germline"	""	""	"0"	""	""	"g.44330349T>A"	""	"pathogenic (recessive)"	""
"0000759673"	"0"	"50"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00000"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Zhang 2016:27596865}"	""	"c.G218C"	""	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"VUS"	"ACMG"
"0000759681"	"0"	"50"	"21"	"45752925"	"45752925"	"subst"	"0"	"00000"	"C21orf2_000069"	"g.45752925C>G"	""	"{PMID:Zhang 2016:27596865}"	""	"c.G364C"	""	"Germline"	""	""	"0"	""	""	"g.44333042C>G"	""	"VUS"	"ACMG"
"0000763892"	"1"	"70"	"21"	"45752937"	"45752938"	"ins"	"0"	"00006"	"C21orf2_000070"	"g.45752937_45752938insCGCGGCAGGGTG"	""	"{PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333054_44333055insCGCGGCAGGGTG"	""	"likely pathogenic (recessive)"	""
"0000763972"	"2"	"70"	"21"	"45757531"	"45757531"	"subst"	"0"	"00006"	"C21orf2_000071"	"g.45757531C>T"	""	"{PMID:Huang 2016:26992781}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44337648C>T"	""	"likely pathogenic (recessive)"	""
"0000764106"	"3"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"04043"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic (recessive)"	""
"0000764107"	"1"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"04043"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic (recessive)"	""
"0000764145"	"2"	"90"	"21"	"45759002"	"45759002"	"subst"	"0"	"04043"	"C21orf2_000072"	"g.45759002A>G"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	"no"	""	"0"	""	""	"g.44339119A>G"	""	"pathogenic (recessive)"	""
"0000765936"	"3"	"70"	"21"	"45750232"	"45750232"	"subst"	"0"	"00006"	"C21orf2_000059"	"g.45750232T>A"	""	"{PMID:Patel 2016:26355662}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000791137"	"3"	"90"	"21"	"45759044"	"45759045"	"ins"	"4.4619E-5"	"00000"	"C21orf2_000073"	"g.45759044_45759045insTGCACGCTGTGCAGCT"	"0 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44339161_44339162insTGCACGCTGTGCAGCT"	""	"pathogenic"	"ACMG"
"0000791153"	"3"	"70"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00000"	"C21orf2_000019"	"g.45753071C>G"	"7,189 (in-house database, ~5000 samples)"	"Tracewska 2021, MolVis in press"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44333188C>G"	""	"likely pathogenic"	"ACMG"
"0000794289"	"0"	"70"	"21"	"45755647"	"45755647"	"subst"	"0"	"00000"	"C21orf2_000075"	"g.45755647G>A"	""	"{PMID:Wang 2018:30029497}"	""	"NM_004928.2:c.137C>T, NP_004919.1:p.(Thr46Met), NC_000021.8:g.45755647G>A"	""	"Germline"	"?"	""	"0"	""	""	"g.44335764G>A"	""	"likely pathogenic"	"ACMG"
"0000794290"	"0"	"90"	"21"	"45753135"	"45753156"	"del"	"0"	"00000"	"C21orf2_000074"	"g.45753135_45753156del"	""	"{PMID:Wang 2018:30029497}"	""	"NM_004928.2:c.144-6_159del, NP_004919.1:p.?, NC_000021.8:g.45753135_45753156del"	""	"Germline"	"?"	""	"0"	""	""	"g.44333252_44333273del"	""	"pathogenic"	"ACMG"
"0000794978"	"3"	"50"	"21"	"45755681"	"45755681"	"del"	"0"	"00000"	"C21orf2_000001"	"g.45755681del"	""	"{PMID:Abu-Safieh-2013:23105016}"	""	"c.103delA"	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000797099"	"0"	"90"	"21"	"45759044"	"45759045"	"ins"	"4.4619E-5"	"00000"	"C21orf2_000073"	"g.45759044_45759045insTGCACGCTGTGCAGCT"	""	"{PMID:Birtel 2018:30543658}"	""	"c.33_34insAGCTGCACAGCGTGCA, p.Ala12Serfs*60"	"Heterozygous"	"Germline"	"yes"	"rs748531024"	"0"	""	""	"g.44339161_44339162insTGCACGCTGTGCAGCT"	""	"pathogenic"	"ACMG"
"0000797166"	"0"	"50"	"21"	"45751900"	"45751900"	"subst"	"0"	"00000"	"C21orf2_000076"	"g.45751900T>A"	""	"{PMID:Birtel 2018:30543658}"	""	"c.374-3A>T, Splice"	"Heterozygous"	"Germline"	"yes"	"rs770721510"	"0"	""	""	"g.44332017T>A"	""	"VUS"	"ACMG"
"0000815286"	"0"	"50"	"21"	"45752973"	"45752973"	"subst"	"6.04386E-5"	"00000"	"C21orf2_000078"	"g.45752973G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"C21orf2:NM_004928 c.C316T, p.R106C"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.44333090G>A"	""	"VUS"	"ACMG"
"0000815301"	"0"	"50"	"21"	"45753117"	"45753117"	"subst"	"0.00803041"	"00000"	"C21orf2_000013"	"g.45753117C>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"C21orf2:NM_004928 c.G172T, p.V58L"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.44333234C>A"	""	"VUS"	"ACMG"
"0000815337"	"0"	"70"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00000"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"C21orf2:NM_004928 c.G218C, p.R73P"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.44333188C>G"	""	"likely pathogenic"	"ACMG"
"0000815338"	"0"	"70"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00000"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"c.218G>C; p.(Arg73Pro)"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.44333188C>G"	""	"likely pathogenic"	"ACMG"
"0000815385"	"3"	"90"	"21"	"45757531"	"45757531"	"subst"	"0"	"00000"	"C21orf2_000071"	"g.45757531C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"C21orf2:NM_004928 c.96+1G>A, p.?"	"homozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.44337648C>T"	""	"pathogenic"	"ACMG"
"0000815386"	"3"	"90"	"21"	"45757531"	"45757531"	"subst"	"0"	"00000"	"C21orf2_000071"	"g.45757531C>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"C21orf2:NM_004928 c.96+1G>A, p.?"	"homozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.44337648C>T"	""	"pathogenic"	"ACMG"
"0000815437"	"0"	"50"	"21"	"45750100"	"45750100"	"subst"	"1.09509E-5"	"00000"	"C21orf2_000077"	"g.45750100A>C"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"C21orf2:NM_004928 c.T752G, p.V251G"	"heterozygous, individual solved, variant non-causal"	"Germline"	"?"	""	"0"	""	""	"g.44330217A>C"	""	"VUS"	"ACMG"
"0000815486"	"0"	"90"	"21"	"45753043"	"45753043"	"subst"	"0"	"00000"	"C21orf2_000079"	"g.45753043G>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"C21orf2:NM_004928 c.C246A, p.Y82X"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.44333160G>T"	""	"pathogenic"	"ACMG"
"0000815492"	"0"	"90"	"21"	"45753043"	"45753043"	"subst"	"0"	"00000"	"C21orf2_000079"	"g.45753043G>T"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"c.246C>A; p.(Tyr82*)"	"heterozygous, individual solved, variant causal"	"Germline"	"yes"	""	"0"	""	""	"g.44333160G>T"	""	"pathogenic"	"ACMG"
"0000816718"	"3"	"70"	"21"	"45752969"	"45752969"	"subst"	"4.2684E-6"	"00000"	"C21orf2_000062"	"g.45752969T>C"	""	"{PMID:Jauregui 2020:32098976}"	""	"C21ORF2 c.320A>G, p.Y107C"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.44333086T>C"	""	"likely pathogenic"	""
"0000820114"	"1"	"70"	"21"	"45752946"	"45752957"	"del"	"0"	"00000"	"C21orf2_000080"	"g.45752946_45752957del"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CFAP410, variant 1: c.335_346del/p.L112_L115del , variant 2: c.335_346del/p.L112_L115del"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.44333063_44333074del"	""	"likely pathogenic"	""
"0000820322"	"1"	"70"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00000"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CFAP410, variant 1: c.218G>C/p.R73P, variant 2: c.96+6T>A/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.44333188C>G"	""	"likely pathogenic"	""
"0000820377"	"1"	"70"	"21"	"45753003"	"45753003"	"subst"	"0"	"00000"	"C21orf2_000003"	"g.45753003C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CFAP410, variant 1: c.286G>A/p.E96K, variant 2: c.286G>A/p.E96K"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.44333120C>T"	""	"likely pathogenic"	""
"0000820859"	"1"	"70"	"21"	"45757526"	"45757526"	"subst"	"1.62677E-5"	"00000"	"C21orf2_000043"	"g.45757526A>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"CFAP410, variant 1: c.218G>C/p.R73P, variant 2: c.96+6T>A/p.?"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.44337643A>T"	""	"likely pathogenic"	""
"0000825942"	"0"	"70"	"21"	"45753130"	"45753145"	"del"	"0"	"00000"	"C21orf2_000081"	"g.45753130_45753145del"	""	"{PMID:Liu-2020:33090715}"	""	"c.144_159del16bp"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000825943"	"0"	"70"	"21"	"45755647"	"45755647"	"subst"	"0"	"00000"	"C21orf2_000075"	"g.45755647G>A"	""	"{PMID:Liu-2020:33090715}"	""	"c.137C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic (recessive)"	""
"0000855979"	"0"	"50"	"21"	"45750513"	"45750513"	"subst"	"6.38932E-5"	"01943"	"C21orf2_000083"	"g.45750513G>A"	""	""	""	"CFAP410(NM_001271441.1):c.832C>T (p.R278C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000855980"	"0"	"50"	"21"	"45751726"	"45751726"	"subst"	"0.000334423"	"01943"	"C21orf2_000084"	"g.45751726G>A"	""	""	""	"CFAP410(NM_001271441.1):c.545C>T (p.T182I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000855981"	"0"	"90"	"21"	"45751839"	"45751839"	"subst"	"0"	"01943"	"C21orf2_000085"	"g.45751839G>T"	""	""	""	"CFAP410(NM_001271441.1):c.432C>A (p.A144=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000855982"	"0"	"90"	"21"	"45751839"	"45751840"	"del"	"0"	"01943"	"C21orf2_000086"	"g.45751839_45751840del"	""	""	""	"CFAP410(NM_001271441.1):c.433_434delCC (p.P145Rfs*24)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000866651"	"0"	"50"	"21"	"45750464"	"45750464"	"subst"	"0.000240544"	"01943"	"C21orf2_000082"	"g.45750464C>G"	""	""	""	"CFAP410(NM_001271441.1):c.881G>C (p.W294S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000895507"	"0"	"30"	"21"	"45751752"	"45751752"	"subst"	"0"	"02330"	"C21orf2_000087"	"g.45751752G>A"	""	""	""	"CFAP410(NM_001271441.2):c.519C>T (p.D173=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895508"	"0"	"30"	"21"	"45751913"	"45751916"	"del"	"0"	"02330"	"C21orf2_000088"	"g.45751913_45751916del"	""	""	""	"CFAP410(NM_001271441.2):c.374-16_374-13delGTCT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895509"	"0"	"30"	"21"	"45753013"	"45753013"	"subst"	"0.000100658"	"02330"	"C21orf2_000089"	"g.45753013C>T"	""	""	""	"CFAP410(NM_001271441.2):c.276G>A (p.L92=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895510"	"0"	"90"	"21"	"45759000"	"45759000"	"subst"	"1.21586E-5"	"02327"	"C21orf2_000090"	"g.45759000C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000927502"	"11"	"90"	"21"	"45752970"	"45752970"	"subst"	"1.27981E-5"	"04500"	"C21orf2_000057"	"g.45752970A>G"	""	""	""	"g.45752942T>C"	""	"Germline"	"?"	""	"0"	""	""	"g.44333087A>G"	""	"pathogenic"	""
"0000927503"	"11"	"70"	"21"	"45752942"	"45752942"	"subst"	"6.07813E-5"	"04500"	"C21orf2_000061"	"g.45752942G>A"	""	""	""	"g.45752970C>T"	""	"Germline"	""	""	"0"	""	""	"g.44333059G>A"	""	"likely pathogenic"	""
"0000933810"	"0"	"90"	"21"	"45752942"	"45752942"	"subst"	"6.07813E-5"	"04552"	"C21orf2_000061"	"g.45752942G>A"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	"rs922930539"	"0"	""	""	"g.44333059G>A"	"{CV:428581}"	"likely pathogenic"	"ACMG"
"0000933811"	"0"	"90"	"21"	"45755668"	"45755670"	"dup"	"0"	"04552"	"C21orf2_000091"	"g.45755668_45755670dup"	""	"Villafuerte-de la Cruz RA, et al., 2023. Submitted"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.44335785_44335787dup"	"{CV:1433792}"	"VUS"	"ACMG"
"0000951515"	"0"	"30"	"21"	"45750380"	"45750380"	"subst"	"0.00413449"	"01804"	"C21orf2_000092"	"g.45750380G>A"	""	""	""	"C21orf2(NM_001271441.1):c.965C>T (p.(Ala322Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000951516"	"0"	"30"	"21"	"45750391"	"45750391"	"subst"	"0.000706013"	"02330"	"C21orf2_000006"	"g.45750391C>T"	""	""	""	"C21orf2(NM_001271441.1):c.954G>A (p.T318=), CFAP410(NM_001271441.2):c.954G>A (p.T318=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000958360"	"0"	"90"	"21"	"45751835"	"45751836"	"del"	"0"	"00006"	"C21orf2_000052"	"g.45751835_45751836del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.44331952_44331953del"	""	"pathogenic (recessive)"	"ACMG"
"0000958645"	"0"	"90"	"21"	"45759019"	"45759022"	"del"	"0"	"00006"	"C21orf2_000051"	"g.45759019_45759022del"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1, PP5"	"Germline"	""	""	"0"	""	""	"g.44339136_44339139del"	""	"pathogenic (recessive)"	"ACMG"
"0000958882"	"0"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"00006"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM1_SUPPORTING, PP5_STRONG, BP4, PS4_MODERATE"	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic (recessive)"	"ACMG"
"0000959322"	"0"	"50"	"21"	"45752996"	"45752996"	"subst"	"1.28393E-5"	"00006"	"C21orf2_000093"	"g.45752996G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PM1_SUPPORTING"	"Germline"	""	""	"0"	""	""	"g.44333113G>A"	""	"VUS"	"ACMG"
"0000970318"	"0"	"30"	"21"	"45751845"	"45751845"	"subst"	"3.6747E-5"	"02330"	"C21orf2_000094"	"g.45751845A>G"	""	""	""	"CFAP410(NM_001271441.2):c.426T>C (p.T142=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000970319"	"0"	"50"	"21"	"45757526"	"45757526"	"subst"	"1.62677E-5"	"01804"	"C21orf2_000043"	"g.45757526A>T"	""	""	""	"C21orf2(NM_001271440.1):c.96+6T>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000984011"	"0"	"30"	"21"	"45746115"	"45746115"	"subst"	"0.00122262"	"01804"	"C21orf2_000095"	"g.45746115C>A"	""	""	""	"PFKL(NM_002626.6):c.2163C>A (p.(Pro721=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000984012"	"0"	"30"	"21"	"45750612"	"45750644"	"del"	"0"	"01804"	"C21orf2_000096"	"g.45750612_45750644del"	""	""	""	"CFAP410(NM_001271441.2):c.734_766del (p.(Pro245_Gly255del))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000986357"	"3"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"04405"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic"	"ACMG"
"0000986358"	"3"	"90"	"21"	"45753071"	"45753071"	"subst"	"0.000302892"	"04405"	"C21orf2_000019"	"g.45753071C>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333188C>G"	""	"pathogenic"	"ACMG"
"0000986359"	"3"	"50"	"21"	"45753080"	"45753080"	"subst"	"2.07158E-5"	"04405"	"C21orf2_000097"	"g.45753080C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44333197C>T"	""	"VUS"	"ACMG"
"0001011823"	"0"	"30"	"21"	"45751902"	"45751902"	"subst"	"0"	"03779"	"C21orf2_000098"	"g.45751902G>A"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"likely benign"	""
"0001043616"	"0"	"30"	"21"	"45750090"	"45750090"	"subst"	"0"	"02326"	"C21orf2_000099"	"g.45750090G>A"	""	""	""	"CFAP410(NM_004928.3):c.762C>T (p.H254=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001043617"	"0"	"50"	"21"	"45750687"	"45750696"	"dup"	"0"	"01804"	"C21orf2_000029"	"g.45750687_45750696dup"	""	""	""	"CFAP410(NM_001271441.2):c.656_665dup (p.(Ala223ArgfsTer38)), CFAP410(NM_001271441.2):c.656_665dupTAGGGGCCGC (p.A223Rfs*38)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001049835"	"1"	"70"	"21"	"45750713"	"45750714"	"del"	"4.55672E-6"	"00006"	"chr21_000918"	"g.45750713_45750714del"	""	"{PMID:Hussain 2023:36833373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44330830_44330831del"	""	"likely pathogenic (recessive)"	""
"0001049836"	"1"	"70"	"21"	"45750713"	"45750714"	"del"	"4.55672E-6"	"00006"	"chr21_000918"	"g.45750713_45750714del"	""	"{PMID:Hussain 2023:36833373}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.44330830_44330831del"	""	"likely pathogenic (recessive)"	""
"0001049840"	"2"	"70"	"21"	"45752937"	"45752938"	"ins"	"0"	"00006"	"C21orf2_000070"	"g.45752937_45752938insCGCGGCAGGGTG"	""	"{PMID:Hussain 2023:36833373}"	""	"351_352insACCCTGCCGCGC, 351_353dup12, 352_352dup12 (L118delinsTLPRL)"	""	"Germline"	""	""	"0"	""	""	"g.44333054_44333055insCGCGGCAGGGTG"	""	"likely pathogenic (recessive)"	""
"0001049841"	"2"	"70"	"21"	"45752937"	"45752938"	"ins"	"0"	"00006"	"C21orf2_000070"	"g.45752937_45752938insCGCGGCAGGGTG"	""	"{PMID:Hussain 2023:36833373}"	""	"351_352insACCCTGCCGCGC, 351_353dup12, 352_352dup12 (L118delinsTLPRL)"	""	"Germline"	""	""	"0"	""	""	"g.44333054_44333055insCGCGGCAGGGTG"	""	"likely pathogenic (recessive)"	""
"0001057029"	"0"	"30"	"21"	"45750346"	"45750346"	"subst"	"1.46349E-5"	"01804"	"chr21_000957"	"g.45750346C>T"	""	""	""	"CFAP410(NM_001271441.2):c.999G>A (p.(Pro333=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001057030"	"0"	"50"	"21"	"45751891"	"45751891"	"subst"	"9.79924E-5"	"01804"	"C21orf2_000033"	"g.45751891G>A"	""	""	""	"CFAP410(NM_001271441.2):c.380C>T (p.T127M), CFAP410(NM_004928.3):c.380C>T (p.(Thr127Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes C21orf2
## Count = 151
"{{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}}"
"0000090897"	"00004182"	"90"	"103"	"0"	"103"	"0"	"c.103del"	"r.(?)"	"p.(Ile35Phefs*10)"	"3"
"0000170883"	"00004182"	"70"	"286"	"0"	"286"	"0"	"c.286G>A"	"r.(?)"	"p.(Glu96Lys)"	"4"
"0000170884"	"00004182"	"90"	"633"	"0"	"634"	"0"	"c.633_634del"	"r.(?)"	"p.(His211GlnfsTer98)"	"6"
"0000263839"	"00004182"	"10"	"740"	"0"	"740"	"0"	"c.740G>A"	"r.(?)"	"p.(Arg247His)"	""
"0000263840"	"00004182"	"10"	"138"	"0"	"138"	"0"	"c.138G>A"	"r.(?)"	"p.(Thr46=)"	""
"0000263841"	"00004182"	"30"	"176"	"0"	"176"	"0"	"c.176G>A"	"r.(?)"	"p.(Ser59Asn)"	""
"0000263842"	"00004182"	"50"	"224"	"0"	"224"	"0"	"c.224C>T"	"r.(?)"	"p.(Pro75Leu)"	""
"0000263843"	"00004182"	"30"	"398"	"0"	"398"	"0"	"c.398G>A"	"r.(?)"	"p.(Arg133His)"	""
"0000263844"	"00004182"	"10"	"642"	"96"	"642"	"96"	"c.642+96C>T"	"r.(=)"	"p.(=)"	""
"0000263846"	"00004182"	"10"	"643"	"-235"	"643"	"-235"	"c.643-235G>A"	"r.(=)"	"p.(=)"	""
"0000272267"	"00004182"	"50"	"172"	"0"	"172"	"0"	"c.172G>T"	"r.(?)"	"p.(Val58Leu)"	""
"0000272268"	"00004182"	"30"	"18"	"0"	"18"	"0"	"c.18G>A"	"r.(?)"	"p.(Lys6=)"	""
"0000272269"	"00004182"	"50"	"587"	"0"	"587"	"0"	"c.587G>A"	"r.(?)"	"p.(Arg196Gln)"	""
"0000272270"	"00004182"	"10"	"643"	"-235"	"643"	"-235"	"c.643-235G>A"	"r.(=)"	"p.(=)"	""
"0000272271"	"00004182"	"10"	"643"	"-182"	"643"	"-182"	"c.643-182G>A"	"r.(=)"	"p.(=)"	""
"0000272272"	"00004182"	"30"	"643"	"-146"	"643"	"-146"	"c.643-146G>A"	"r.(=)"	"p.(=)"	""
"0000343324"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000350244"	"00004182"	"50"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Val111Met)"	""
"0000358180"	"00004182"	"90"	"643"	"-1"	"643"	"-1"	"c.643-1G>C"	"r.spl"	"p.?"	""
"0000441250"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000570791"	"00004182"	"10"	"763"	"0"	"763"	"0"	"c.763G>A"	"r.(?)"	"p.(Ala255Thr)"	""
"0000570792"	"00004182"	"50"	"673"	"0"	"673"	"0"	"c.673C>T"	"r.(?)"	"p.(Arg225Trp)"	""
"0000570793"	"00004182"	"30"	"643"	"-130"	"643"	"-130"	"c.643-130C>T"	"r.(=)"	"p.(=)"	""
"0000570794"	"00004182"	"30"	"643"	"-131"	"643"	"-131"	"c.643-131T>C"	"r.(=)"	"p.(=)"	""
"0000570796"	"00004182"	"30"	"642"	"61"	"642"	"61"	"c.642+61A>G"	"r.(=)"	"p.(=)"	""
"0000570798"	"00004182"	"90"	"642"	"17"	"642"	"26"	"c.642+17_642+26dup"	"r.(=)"	"p.(=)"	""
"0000570799"	"00004182"	"50"	"578"	"0"	"578"	"0"	"c.578C>T"	"r.(?)"	"p.(Pro193Leu)"	""
"0000570800"	"00004182"	"10"	"561"	"0"	"561"	"0"	"c.561T>C"	"r.(?)"	"p.(Asp187=)"	""
"0000570802"	"00004182"	"50"	"380"	"0"	"380"	"0"	"c.380C>T"	"r.(?)"	"p.(Thr127Met)"	""
"0000570803"	"00004182"	"30"	"330"	"0"	"330"	"0"	"c.330C>G"	"r.(?)"	"p.(Thr110=)"	""
"0000570804"	"00004182"	"50"	"217"	"0"	"217"	"0"	"c.217C>T"	"r.(?)"	"p.(Arg73Cys)"	""
"0000570805"	"00004182"	"30"	"172"	"0"	"172"	"0"	"c.172G>T"	"r.(?)"	"p.(Val58Leu)"	""
"0000570806"	"00004182"	"30"	"144"	"-7"	"144"	"-7"	"c.144-7C>T"	"r.(=)"	"p.(=)"	""
"0000570807"	"00004182"	"50"	"144"	"-856"	"144"	"-856"	"c.144-856C>T"	"r.(=)"	"p.(=)"	""
"0000570808"	"00004182"	"30"	"143"	"8"	"143"	"8"	"c.143+8G>A"	"r.(=)"	"p.(=)"	""
"0000570809"	"00004182"	"10"	"77"	"46"	"77"	"47"	"c.77+46_77+47insAGGGGCGGGGCGAGGGCGGAGCCGGAGGGAGGAGC"	"r.(=)"	"p.(=)"	""
"0000570810"	"00004182"	"50"	"58"	"0"	"58"	"0"	"c.58G>A"	"r.(?)"	"p.(Val20Met)"	""
"0000570811"	"00004182"	"10"	"18"	"0"	"18"	"0"	"c.18G>A"	"r.(?)"	"p.(Lys6=)"	""
"0000579012"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000579013"	"00004182"	"90"	"671"	"0"	"671"	"0"	"c.671T>C"	"r.(?)"	"p.(Leu224Pro)"	""
"0000579014"	"00004182"	"90"	"480"	"0"	"481"	"0"	"c.480_481insT"	"r.(?)"	"p.(Leu161Serfs*9)"	""
"0000579015"	"00004182"	"70"	"96"	"6"	"96"	"6"	"c.96+6T>A"	"r.spl?"	"p.(=)"	""
"0000579016"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000579017"	"00004182"	"90"	"103"	"0"	"103"	"0"	"c.103del"	"r.(?)"	"p.(Ile35Phefs*10)"	""
"0000579018"	"00004182"	"90"	"545"	"1"	"545"	"1"	"c.545+1G>T"	"r.541_545del"	"p.Leu112Hisfs*24"	""
"0000618392"	"00004182"	"30"	"642"	"62"	"642"	"127"	"c.642+62_642+127dup"	"r.(=)"	"p.(=)"	""
"0000618393"	"00004182"	"10"	"545"	"20"	"545"	"20"	"c.545+20G>A"	"r.(=)"	"p.(=)"	""
"0000618394"	"00004182"	"30"	"522"	"0"	"522"	"0"	"c.522G>T"	"r.(?)"	"p.(Pro174=)"	""
"0000618395"	"00004182"	"30"	"436"	"0"	"436"	"0"	"c.436G>C"	"r.(?)"	"p.(Glu146Gln)"	""
"0000624229"	"00004182"	"30"	"505"	"0"	"505"	"0"	"c.505G>A"	"r.(?)"	"p.(Glu169Lys)"	""
"0000668099"	"00004182"	"90"	"59"	"0"	"62"	"0"	"c.59_62del"	"r.(?)"	"p.(Val20AlafsTer24)"	""
"0000668100"	"00004182"	"70"	"443"	"0"	"444"	"0"	"c.443_444del"	"r.(?)"	"p.(Glu148GlyfsTer21)"	""
"0000684622"	"00004182"	"70"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000685042"	"00004182"	"90"	"643"	"-1"	"643"	"-1"	"c.643-1G>C"	"r.spl"	"p.?"	""
"0000685043"	"00004182"	"90"	"643"	"-2"	"643"	"-2"	"c.643-2A>G"	"r.spl"	"p.?"	""
"0000685044"	"00004182"	"70"	"364"	"0"	"364"	"0"	"c.364G>A"	"r.(?)"	"p.(Asp122Asn)"	""
"0000693063"	"00004182"	"30"	"445"	"0"	"445"	"0"	"c.445G>C"	"r.(?)"	"p.(Gly149Arg)"	""
"0000710803"	"00004182"	"70"	"673"	"0"	"673"	"0"	"c.673C>T"	"r.(?)"	"p.(Arg225Trp)"	"7"
"0000712635"	"00004182"	"70"	"319"	"0"	"319"	"0"	"c.319T>C"	"r.(?)"	"p.(Tyr107His)"	"4"
"0000712636"	"00004182"	"70"	"319"	"0"	"319"	"0"	"c.319T>C"	"r.(?)"	"p.(Tyr107His)"	"4"
"0000712643"	"00004182"	"70"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	"4"
"0000712743"	"00004182"	"90"	"436"	"0"	"466"	"0"	"c.436_466del"	"r.(?)"	"p.(Glu146Serfs*6)"	"5"
"0000712744"	"00004182"	"90"	"436"	"0"	"466"	"0"	"c.436_466del"	"r.(?)"	"p.(Glu146Serfs*6)"	"5"
"0000712745"	"00004182"	"90"	"182"	"0"	"182"	"0"	"c.182G>A"	"r.(?)"	"p.(Cys61Tyr)"	"4"
"0000712746"	"00004182"	"70"	"643"	"-23"	"643"	"-23"	"c.643-23A>T"	"r.spl"	"p.?"	"6i"
"0000712747"	"00004182"	"70"	"319"	"0"	"319"	"0"	"c.319T>C"	"r.(?)"	"p.(Tyr107His)"	"4"
"0000712748"	"00004182"	"70"	"545"	"1"	"545"	"1"	"c.545+1G>A"	"r.[545_546[insa;545+2_546-1],?,540545del]"	"p.[Ser183*,Ala181Glnfs*6]"	"5i"
"0000712749"	"00004182"	"70"	"643"	"-23"	"643"	"-23"	"c.643-23A>T"	"r.642_643ins[642+1_643-24;u;643-22_643-1]"	"p.?"	"6i"
"0000712750"	"00004182"	"70"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	"4"
"0000712751"	"00004182"	"70"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	"4"
"0000712752"	"00004182"	"70"	"319"	"0"	"319"	"0"	"c.319T>C"	"r.(?)"	"p.(Tyr107His)"	"4"
"0000712753"	"00004182"	"70"	"320"	"0"	"320"	"0"	"c.320A>G"	"r.(?)"	"p.(Tyr107Cys)"	"4"
"0000712754"	"00004182"	"70"	"96"	"670"	"97"	"-41"	"c.96+670_97-41del"	"r.?"	"p.?"	"2i"
"0000712755"	"00004182"	"70"	"347"	"0"	"347"	"0"	"c.347C>T"	"r.(?)"	"p.(Pro116Leu)"	"4"
"0000712756"	"00004182"	"70"	"331"	"0"	"331"	"0"	"c.331G>A"	"r.(?)"	"p.(Val111Met)"	"4"
"0000713420"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000713480"	"00004182"	"90"	"269"	"0"	"269"	"0"	"c.269G>C"	"r.(?)"	"p.(Arg90Pro)"	""
"0000713490"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000713766"	"00004182"	"90"	"33"	"0"	"34"	"0"	"c.33_34insAGCTGCACAGCGTGCA"	"r.(?)"	"p.(Ala12SerfsTer60)"	""
"0000713800"	"00004182"	"90"	"33"	"0"	"34"	"0"	"c.33_34insAGCTGCACAGCGTGCA"	"r.(?)"	"p.(Ala12SerfsTer60)"	""
"0000727938"	"00004182"	"50"	"642"	"108"	"642"	"108"	"c.642+108G>T"	"r.(=)"	"p.(=)"	""
"0000727939"	"00004182"	"50"	"642"	"98"	"642"	"98"	"c.642+98T>G"	"r.(=)"	"p.(=)"	""
"0000729835"	"00004182"	"90"	"643"	"-23"	"643"	"-23"	"c.643-23A>T"	"r.(=)"	"p.(=)"	""
"0000729836"	"00004182"	"90"	"103"	"0"	"103"	"0"	"c.103del"	"r.(?)"	"p.(Ile35Phefs*10)"	""
"0000729837"	"00004182"	"90"	"643"	"-23"	"643"	"-23"	"c.643-23A>T"	"r.(=)"	"p.(=)"	""
"0000759673"	"00004182"	"50"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000759681"	"00004182"	"50"	"364"	"0"	"364"	"0"	"c.364G>C"	"r.(?)"	"p.(Asp122His)"	""
"0000763892"	"00004182"	"70"	"352"	"0"	"353"	"0"	"c.352_353insACCCTGCCGCGC"	"r.(?)"	"p.(Arg117_Leu118insHisProAlaAla)"	""
"0000763972"	"00004182"	"70"	"96"	"1"	"96"	"1"	"c.96+1G>A"	"r.spl"	"p.?"	""
"0000764106"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.218g>c"	"p.(Arg73Pro)"	"4"
"0000764107"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.218g>c"	"p.(Arg73Pro)"	"4"
"0000764145"	"00004182"	"90"	"76"	"0"	"76"	"0"	"c.76T>C"	"r.76u>c"	"p.(Trp26Arg)"	"1"
"0000765936"	"00004182"	"70"	"643"	"-23"	"643"	"-23"	"c.643-23A>T"	"r.spl"	"p.?"	""
"0000791137"	"00004182"	"90"	"33"	"0"	"34"	"0"	"c.33_34insAGCTGCACAGCGTGCA"	"r.(?)"	"p.(Ala12Serfs*60)"	"1"
"0000791153"	"00004182"	"70"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	"4"
"0000794289"	"00004182"	"70"	"137"	"0"	"137"	"0"	"c.137C>T"	"r.(?)"	"p.(Thr46Met)"	"3"
"0000794290"	"00004182"	"90"	"144"	"-6"	"159"	"0"	"c.144-6_159del"	"r.spl"	"p.?"	"3i_4"
"0000794978"	"00004182"	"50"	"103"	"0"	"103"	"0"	"c.103del"	"r.(?)"	"p.(Ile35Phefs*10)"	"3"
"0000797099"	"00004182"	"90"	"33"	"0"	"34"	"0"	"c.33_34insAGCTGCACAGCGTGCA"	"r.(?)"	"p.(Ala12Serfs*60)"	"1"
"0000797166"	"00004182"	"50"	"374"	"-3"	"374"	"-3"	"c.374-3A>T"	"r.spl?"	"p.(?)"	"4i"
"0000815286"	"00004182"	"50"	"316"	"0"	"316"	"0"	"c.316C>T"	"r.(?)"	"p.(Arg106Cys)"	""
"0000815301"	"00004182"	"50"	"172"	"0"	"172"	"0"	"c.172G>T"	"r.(?)"	"p.(Val58Leu)"	""
"0000815337"	"00004182"	"70"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000815338"	"00004182"	"70"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000815385"	"00004182"	"90"	"96"	"1"	"96"	"1"	"c.96+1G>A"	"r.spl"	"p.(?)"	""
"0000815386"	"00004182"	"90"	"96"	"1"	"96"	"1"	"c.96+1G>A"	"r.spl"	"p.(?)"	""
"0000815437"	"00004182"	"50"	"752"	"0"	"752"	"0"	"c.752T>G"	"r.(?)"	"p.(Val251Gly)"	""
"0000815486"	"00004182"	"90"	"246"	"0"	"246"	"0"	"c.246C>A"	"r.(?)"	"p.(Tyr82Ter)"	""
"0000815492"	"00004182"	"90"	"246"	"0"	"246"	"0"	"c.246C>A"	"r.(?)"	"p.(Tyr82Ter)"	""
"0000816718"	"00004182"	"70"	"320"	"0"	"320"	"0"	"c.320A>G"	"r.(?)"	"p.(Tyr107Cys)"	""
"0000820114"	"00004182"	"70"	"335"	"0"	"346"	"0"	"c.335_346del"	"r.(?)"	"p.(Leu112_Leu115del)"	""
"0000820322"	"00004182"	"70"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000820377"	"00004182"	"70"	"286"	"0"	"286"	"0"	"c.286G>A"	"r.(?)"	"p.(Glu96Lys)"	""
"0000820859"	"00004182"	"70"	"96"	"6"	"96"	"6"	"c.96+6T>A"	"r.spl?"	"p.(?)"	""
"0000825942"	"00004182"	"70"	"144"	"0"	"159"	"0"	"c.144_159del"	"r.(?)"	"p.(Ser48Argfs*6)"	"4"
"0000825943"	"00004182"	"70"	"137"	"0"	"137"	"0"	"c.137C>T"	"r.(?)"	"p.(Thr46Met)"	"3"
"0000855979"	"00004182"	"50"	"642"	"193"	"642"	"193"	"c.642+193C>T"	"r.(=)"	"p.(=)"	""
"0000855980"	"00004182"	"50"	"545"	"0"	"545"	"0"	"c.545C>T"	"r.(?)"	"p.(Thr182Ile)"	""
"0000855981"	"00004182"	"90"	"432"	"0"	"432"	"0"	"c.432C>A"	"r.(?)"	"p.(Ala144=)"	""
"0000855982"	"00004182"	"90"	"433"	"0"	"434"	"0"	"c.433_434del"	"r.(?)"	"p.(Pro145Argfs*24)"	""
"0000866651"	"00004182"	"50"	"642"	"242"	"642"	"242"	"c.642+242G>C"	"r.(=)"	"p.(=)"	""
"0000895507"	"00004182"	"30"	"519"	"0"	"519"	"0"	"c.519C>T"	"r.(?)"	"p.(Asp173=)"	""
"0000895508"	"00004182"	"30"	"374"	"-16"	"374"	"-13"	"c.374-16_374-13del"	"r.(=)"	"p.(=)"	""
"0000895509"	"00004182"	"30"	"276"	"0"	"276"	"0"	"c.276G>A"	"r.(?)"	"p.(Leu92=)"	""
"0000895510"	"00004182"	"90"	"77"	"1"	"77"	"1"	"c.77+1G>C"	"r.spl?"	"p.?"	""
"0000927502"	"00004182"	"90"	"319"	"0"	"319"	"0"	"c.319T>C"	"r.(?)"	"p.(Tyr107His)"	"4"
"0000927503"	"00004182"	"70"	"347"	"0"	"347"	"0"	"c.347C>T"	"r.(?)"	"p.(Pro116Leu)"	"4"
"0000933810"	"00004182"	"90"	"347"	"0"	"347"	"0"	"c.347C>T"	"r.(?)"	"p.(Pro116Leu)"	""
"0000933811"	"00004182"	"90"	"115"	"0"	"117"	"0"	"c.115_117dup"	"r.(?)"	"p.(Met39dup)"	""
"0000951515"	"00004182"	"30"	"643"	"-171"	"643"	"-171"	"c.643-171C>T"	"r.(=)"	"p.(=)"	""
"0000951516"	"00004182"	"30"	"643"	"-182"	"643"	"-182"	"c.643-182G>A"	"r.(=)"	"p.(=)"	""
"0000958360"	"00004182"	"90"	"443"	"0"	"444"	"0"	"c.443_444del"	"r.(?)"	"p.(Glu148GlyfsTer21)"	""
"0000958645"	"00004182"	"90"	"59"	"0"	"62"	"0"	"c.59_62del"	"r.(?)"	"p.(Val20AlafsTer24)"	""
"0000958882"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	""
"0000959322"	"00004182"	"50"	"293"	"0"	"293"	"0"	"c.293C>T"	"r.(?)"	"p.(Pro98Leu)"	""
"0000970318"	"00004182"	"30"	"426"	"0"	"426"	"0"	"c.426T>C"	"r.(?)"	"p.(=)"	""
"0000970319"	"00004182"	"50"	"96"	"6"	"96"	"6"	"c.96+6T>A"	"r.(=)"	"p.(=)"	""
"0000984011"	"00004182"	"30"	"4737"	"0"	"4737"	"0"	"c.*3966G>T"	"r.(=)"	"p.(=)"	""
"0000984012"	"00004182"	"30"	"642"	"95"	"642"	"127"	"c.642+95_642+127del"	"r.(=)"	"p.(=)"	""
"0000986357"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	"4"
"0000986358"	"00004182"	"90"	"218"	"0"	"218"	"0"	"c.218G>C"	"r.(?)"	"p.(Arg73Pro)"	"4"
"0000986359"	"00004182"	"50"	"209"	"0"	"209"	"0"	"c.209G>A"	"r.(?)"	"p.(Arg70Gln)"	"4"
"0001011823"	"00004182"	"30"	"374"	"-5"	"374"	"-5"	"c.374-5C>T"	"r.(?)"	"p.(?)"	""
"0001043616"	"00004182"	"30"	"762"	"0"	"762"	"0"	"c.762C>T"	"r.(?)"	"p.(=)"	""
"0001043617"	"00004182"	"50"	"642"	"17"	"642"	"26"	"c.642+17_642+26dup"	"r.(=)"	"p.(=)"	""
"0001049835"	"00004182"	"70"	"634"	"0"	"635"	"0"	"c.634_635del"	"r.(?)"	"p.(Arg212GlyfsTer97)"	""
"0001049836"	"00004182"	"70"	"634"	"0"	"635"	"0"	"c.634_635del"	"r.(?)"	"p.(Arg212GlyfsTer97)"	""
"0001049840"	"00004182"	"70"	"352"	"0"	"353"	"0"	"c.352_353insACCCTGCCGCGC"	"r.spl"	"p.(Arg117_Leu118insHisProAlaAla)"	""
"0001049841"	"00004182"	"70"	"352"	"0"	"353"	"0"	"c.352_353insACCCTGCCGCGC"	"r.spl"	"p.(Arg117_Leu118insHisProAlaAla)"	""
"0001057029"	"00004182"	"30"	"643"	"-137"	"643"	"-137"	"c.643-137G>A"	"r.(=)"	"p.(=)"	""
"0001057030"	"00004182"	"50"	"380"	"0"	"380"	"0"	"c.380C>T"	"r.(?)"	"p.(Thr127Met)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 90
"{{screeningid}}"	"{{variantid}}"
"0000059781"	"0000090897"
"0000105466"	"0000170883"
"0000105466"	"0000170884"
"0000156258"	"0000358180"
"0000210080"	"0000441250"
"0000249935"	"0000579012"
"0000249935"	"0000579013"
"0000249936"	"0000579014"
"0000249936"	"0000579015"
"0000249937"	"0000579016"
"0000249938"	"0000579017"
"0000249939"	"0000579018"
"0000304618"	"0000668099"
"0000304618"	"0000668100"
"0000309749"	"0000684622"
"0000310131"	"0000685042"
"0000310132"	"0000685043"
"0000310133"	"0000685044"
"0000325718"	"0000710803"
"0000328671"	"0000712635"
"0000328672"	"0000712636"
"0000328675"	"0000712643"
"0000328719"	"0000712743"
"0000328720"	"0000712744"
"0000328721"	"0000712745"
"0000328722"	"0000712746"
"0000328723"	"0000712747"
"0000328723"	"0000712755"
"0000328724"	"0000712748"
"0000328725"	"0000712749"
"0000328726"	"0000712750"
"0000328727"	"0000712751"
"0000328728"	"0000712752"
"0000328728"	"0000712756"
"0000328729"	"0000712753"
"0000328730"	"0000712754"
"0000329297"	"0000713420"
"0000329297"	"0000713766"
"0000329357"	"0000713480"
"0000329357"	"0000713800"
"0000329367"	"0000713490"
"0000332553"	"0000729835"
"0000332554"	"0000729836"
"0000332555"	"0000729837"
"0000360031"	"0000759673"
"0000360031"	"0000759681"
"0000363315"	"0000763892"
"0000363315"	"0000763972"
"0000363451"	"0000764106"
"0000363452"	"0000764107"
"0000363452"	"0000764145"
"0000364986"	"0000765936"
"0000378382"	"0000791137"
"0000378398"	"0000791153"
"0000381016"	"0000794289"
"0000381016"	"0000794290"
"0000381517"	"0000794978"
"0000383107"	"0000797099"
"0000383107"	"0000797166"
"0000387402"	"0000815286"
"0000387417"	"0000815301"
"0000387453"	"0000815337"
"0000387453"	"0000815486"
"0000387454"	"0000815338"
"0000387454"	"0000815492"
"0000387489"	"0000815437"
"0000387501"	"0000815385"
"0000387502"	"0000815386"
"0000388258"	"0000816718"
"0000390769"	"0000820114"
"0000390977"	"0000820322"
"0000390977"	"0000820859"
"0000391032"	"0000820377"
"0000394874"	"0000825942"
"0000394874"	"0000825943"
"0000436512"	"0000927502"
"0000436512"	"0000927503"
"0000438225"	"0000933810"
"0000438225"	"0000933811"
"0000448874"	"0000958360"
"0000448874"	"0000958645"
"0000449115"	"0000958882"
"0000449115"	"0000959322"
"0000452374"	"0000986357"
"0000452375"	"0000986358"
"0000452376"	"0000986359"
"0000469497"	"0001049835"
"0000469497"	"0001049840"
"0000469498"	"0001049836"
"0000469498"	"0001049841"