### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = OFD1)
# 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}}"
"OFD1"	"oral-facial-digital syndrome 1"	"X"	"p22"	"unknown"	"NG_008872.1"	"UD_132118637568"	""	"http://www.LOVD.nl/OFD1"	""	"1"	"2567"	"8481"	"300170"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project."	""	"g"	"http://databases.lovd.nl/shared/refseq/OFD1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00002"	"2011-04-05 00:00:00"	"00006"	"2015-01-17 14:18:54"	"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}}"
"00000012"	"OFD1"	"oral-facial-digital syndrome 1"	"001"	"NM_003611.2"	""	"NP_003602.1"	""	""	""	"-359"	"3292"	"3039"	"13752832"	"13787480"	"00002"	"2012-05-11 13:11:50"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 16
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"00002"	"JBTS1"	"Joubert syndrome, type 1 (JBTS1)"	"AR"	"213300"	""	""	""	"00006"	"2012-05-17 22:47:36"	"00006"	"2021-12-10 21:51:32"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00187"	"MRX;IDX"	"mental retardation, X-linked (MRX, intellectual disability (IDX))"	""	""	""	"X-linked"	""	"00006"	"2013-09-05 15:56:47"	"00006"	"2018-12-18 09:23:21"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00332"	"CILD"	"dyskinesia, ciliary, primary (CILD)"	""	""	""	""	""	"00006"	"2014-02-21 12:58:05"	"00006"	"2015-03-31 17:58:20"
"01054"	"OFD1"	"orofaciodigital syndrome, type I (OFD-1)"	"XLD"	"311200"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01055"	"SGBS2"	"Simpson-Golabi-Behmel syndrome, type 2 (SGBS-2)"	"XLR"	"300209"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01056"	"JBTS10"	"Joubert syndrome, type 10 (JBTS-10)"	"XLR"	"300804"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02154"	"RP23"	"retinitis pigmentosa, type 23 (RP23)"	"XLR"	"300424"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04222"	"PKD"	"kidney disease, polycystic (PKD)"	""	""	""	""	""	"00006"	"2015-03-13 11:12:15"	"00006"	"2017-11-15 22:09:51"
"05109"	"JBTS"	"Joubert syndrome (JBTS)"	""	""	""	""	""	"00006"	"2016-01-09 00:37:44"	""	""
"05517"	"skeletal dysplasia"	"dysplasia, skeletal"	""	""	""	""	""	"00006"	"2018-11-16 16:43:21"	""	""
"06890"	"hamartoma"	"hamartoma, hypothalamic"	""	""	""	""	""	"00006"	"2022-01-13 11:57:49"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{geneid}}"	"{{diseaseid}}"
"OFD1"	"00139"
"OFD1"	"01054"
"OFD1"	"01055"
"OFD1"	"01056"
"OFD1"	"02154"


## Individuals ## Do not remove or alter this header ##
## Count = 49
"{{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}}"
"00000071"	""	""	""	"1"	""	"00004"	"{PMID:Bell 2011:21228398}"	""	""	""	""	""	""	""	""	""	""
"00000166"	""	""	""	"208"	""	"00006"	"{PMID:Tarpey 2009:19377476}"	"208 families with X-linked mental retardation"	"M"	"-"	""	""	"0"	"for details contact Lucy Raymond (flr24 @ cam.ac.uk)"	""	""	""
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00000209"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00028926"	""	""	""	"1"	""	"01188"	"{PMID:Kroes 2016:25920555}"	""	"M"	""	"(Netherlands)"	""	"0"	""	""	"Europe-N"	"2-52 Pat16"
"00204291"	""	""	""	"1"	""	"01741"	""	""	""	""	""	""	"0"	""	""	""	""
"00233534"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233535"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233536"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233537"	""	""	""	"4"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233538"	""	""	""	"16"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233539"	""	""	""	"1"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233800"	""	""	""	"2"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00233801"	""	""	""	"3"	""	"02591"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	"analysis 1204  retinitis pigmentosa cases"	""	""	"Japan"	""	"0"	""	""	""	""
"00269300"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00307756"	""	""	""	"1"	""	"00006"	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	"F"	""	""	""	"0"	""	""	""	"UK10K_FINDWGA5411008"
"00309629"	""	""	"00309628"	"1"	""	"00006"	"{PMID:Chen 2018:29843741}"	"son"	"M"	"yes"	"China"	""	"0"	""	""	""	"FamAPatVI3"
"00328421"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	"M"	""	"China"	""	"0"	""	""	""	"690811B"
"00331538"	""	""	""	"1"	""	"00000"	"{PMID:Maddirevula 2018:29620724}"	"isolated case"	"F"	""	""	""	"0"	""	""	"Arab"	"13DG0106"
"00335983"	""	""	""	"1"	""	"00000"	"{PMID:Sergouniotis 2016:27628848}"	"analysis 486 cases"	""	""	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00358849"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam7"
"00358858"	""	""	""	"1"	""	"00000"	"{PMID:Suzuki 2016:27434533}"	""	""	"no"	"Japan"	""	"0"	""	""	""	"Fam16"
"00363569"	""	""	""	"1"	""	"00000"	"{PMID:Srour 2015:26477546}"	""	"M"	""	"Canada"	""	"0"	""	""	"French-Canadian"	"Fam695Pat1686,595"
"00372302"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW087-3"
"00372303"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW172-3"
"00372304"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW172-4"
"00372305"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW239-3"
"00372306"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"patient"	""	""	""	""	"0"	""	""	""	"UW274-3"
"00372386"	""	""	""	"1"	""	"00000"	"{PMID:Bachmann-Gagescu 2015:26092869}"	"control"	""	""	""	""	"0"	""	""	""	"ND10891"
"00372647"	""	""	""	"1"	""	"00000"	"{PMID:Xu 2014:24938718}"	"family"	"M"	""	"China"	""	"0"	""	""	""	"RP259"
"00377683"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 70"	"M"	""	"United States"	""	"0"	""	""	""	"3331"
"00377684"	""	""	""	"1"	""	"00000"	"{PMID:Brooks 2018:30055837}"	"family 71"	"M"	""	"United States"	""	"0"	""	""	""	"452"
"00379433"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	"M"	""	"China"	""	"0"	""	""	""	""
"00386703"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2829_004414"
"00388091"	""	""	""	"1"	""	"00000"	"{PMID:Summers 2017:28497568}"	""	""	""	"United States"	""	"0"	""	""	""	"452"
"00395021"	""	""	""	"1"	""	"00000"	"{PMID:Zacchia 2021:33964006}"	""	"?"	""	"(Italy)"	""	"0"	""	""	""	"K1"
"00396714"	""	""	""	"1"	""	"04116"	""	""	"M"	""	""	""	"0"	""	""	""	"T929"
"00396715"	""	""	""	"1"	""	"04116"	""	""	"M"	""	""	""	"0"	""	""	""	"T25052"
"00396716"	""	""	""	"1"	""	"04116"	""	""	"M"	""	""	""	"0"	""	""	""	"T25056"
"00396717"	""	""	""	"1"	""	"04116"	""	""	"M"	""	""	""	"0"	""	""	""	"T25073"
"00405270"	""	""	""	"3"	""	"00000"	"{PMID:Webb-2012:22619378}"	"Family with 3 affected males and 3 female carriers"	"M"	""	""	""	"0"	""	""	""	"II:1, IV:4 and V:2"
"00405271"	""	""	""	"1"	""	"00000"	"{PMID:Wang-2017:28191358}"	""	"M"	"no"	"(China)"	""	"0"	""	""	""	"III: 2"
"00419215"	""	""	""	"1"	""	"00000"	"{PMID:Sharma 2016:27651963}"	""	"M"	""	""	""	"0"	""	""	""	"?"
"00419216"	""	""	""	"1"	""	"00000"	"{PMID:Tsurusaki 2012:22548404}"	"son of II:2; deceased brother and maternal uncle with the same abnormalities"	"M"	""	"Japan"	"1d"	"0"	""	""	"Japanese"	"III:5"
"00419217"	""	""	""	"1"	""	"00000"	"{PMID:Tsurusaki 2012:22548404}"	"mother of III:5; brother and another deceased son with the same abnormalities as the son; two miscarriages (III-2, artificial; III-4, spontaneous)"	"F"	""	"Japan"	""	"0"	""	""	"Japanese"	"II:2"
"00440471"	""	""	""	"1"	""	"00006"	"{PMID:Nambot 2018:29095811}"	""	""	""	"France"	""	"0"	""	""	""	"PED3376.1"
"00447018"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"ARRP-487"
"00448866"	""	""	""	"1"	""	"00006"	"{PMID:Fujimaru 2018:29520754}"	""	"F"	""	"Japan"	""	"0"	""	""	""	"Pat562"
"00462398"	""	""	""	"1"	""	"00006"	"{PMID:Alsamri 2021:34768622}"	"analysis 66 patients with significant clinical respiratory problems"	""	""	"United Arab Emirates"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 48
"{{individualid}}"	"{{diseaseid}}"
"00000166"	"00187"
"00000208"	"01157"
"00000209"	"01157"
"00028926"	"00002"
"00204291"	"01054"
"00233534"	"04214"
"00233535"	"04214"
"00233536"	"04214"
"00233537"	"04214"
"00233538"	"04214"
"00233539"	"04214"
"00233800"	"04214"
"00233801"	"04214"
"00269300"	"00198"
"00307756"	"00139"
"00309629"	"04214"
"00328421"	"04214"
"00331538"	"05517"
"00335983"	"04214"
"00358849"	"05109"
"00358858"	"05109"
"00363569"	"05109"
"00372302"	"05109"
"00372303"	"05109"
"00372304"	"05109"
"00372305"	"05109"
"00372306"	"05109"
"00372386"	"00000"
"00372647"	"04214"
"00377683"	"04214"
"00377684"	"04214"
"00379433"	"04214"
"00386703"	"04214"
"00388091"	"04214"
"00395021"	"04214"
"00396714"	"06890"
"00396715"	"06890"
"00396716"	"06890"
"00396717"	"06890"
"00405270"	"04214"
"00405271"	"04214"
"00419215"	"01054"
"00419216"	"01054"
"00419217"	"01054"
"00440471"	"00198"
"00447018"	"00198"
"00448866"	"04222"
"00462398"	"00332"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00002, 00139, 00187, 00198, 00332, 01054, 01055, 01056, 01157, 02154, 04214, 04222, 05109, 05517, 06890
## Count = 37
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{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}}"
"0000025006"	"00002"	"00028926"	"01188"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000025007"	"00187"	"00000166"	"00006"	"Familial, X-linked recessive"	""	"for details contact Lucy Raymond"	""	""	""	""	""	""	""	""	""	""	""	""
"0000038983"	"01157"	"00000208"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)"	""	""	"3w"	""	""	""	""	""	""	""	""	""
"0000038984"	"01157"	"00000209"	"00006"	"Familial, X-linked recessive"	""	"central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)"	""	""	"07y04m"	""	""	""	""	""	""	""	""	""
"0000207134"	"00198"	"00269300"	"01164"	"Unknown"	""	"Tremor (HP:0001337); Involuntary movements (HP:0004305); Dystonia (HP:0001332); Myoclonus (HP:0001336); Athetosis (HP:0002305)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000234949"	"04214"	"00309629"	"00006"	"Familial, X-linked recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000246647"	"04214"	"00328421"	"00006"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000249730"	"05517"	"00331538"	"00000"	"Familial, X-linked dominant"	""	"Cleft palate, Lobulated tongue, Seizures, Hypoplasia of the corpus callosum, Pontocerebel Yes"	""	""	""	""	""	""	""	""	""	"Osteogenesis imperfecta and decreased bone density group"	"skeletal dysplasia"	""
"0000253898"	"04214"	"00335983"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000254107"	"05109"	"00358849"	"00000"	"Isolated (sporadic)"	""	"severe intellectual disability; severe developmental delay; hypotonia; no retina problems; no coloboma; no kidney problems; no liver symptoms; no encephalocele; no polydactyly"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000254116"	"05109"	"00358858"	"00000"	"Familial, X-linked recessive"	""	"moderate intellectual disability; severe developmental delay; retina problems; coloboma; no kidney problems; no liver symptoms; no encephalocele; polydactyly"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000258919"	"05109"	"00363569"	"00000"	"Familial, autosomal recessive"	"15y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267623"	"05109"	"00372302"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267624"	"05109"	"00372303"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267625"	"05109"	"00372304"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267626"	"05109"	"00372305"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267627"	"05109"	"00372306"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000267926"	"04214"	"00372647"	"00000"	"Familial, autosomal dominant"	"18y"	"see paper; ..."	"5y"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000272835"	"04214"	"00377683"	"00000"	"Familial, autosomal recessive"	""	"vessel attenuation, optic nerve atrophy"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000272836"	"04214"	"00377684"	"00000"	"Familial, autosomal recessive"	""	"liver disease, oculomotor apraxia, nystagmus, strabismus, ptosis"	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome"	""
"0000273306"	"04214"	"00379433"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000280503"	"04214"	"00386703"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000281685"	"04214"	"00388091"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"Joubert syndrome (JBTS)"	""
"0000288221"	"04214"	"00395021"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Polycystic kidney disease"	""	""
"0000291899"	"06890"	"00396714"	"04116"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"sporadic hypothalamic hamartoma"	""
"0000291900"	"06890"	"00396715"	"04116"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"sporadic hypothalamic hamartoma"	""
"0000291901"	"06890"	"00396716"	"04116"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"sporadic hypothalamic hamartoma"	""
"0000291902"	"06890"	"00396717"	"04116"	"Isolated (sporadic)"	""	""	""	""	""	""	""	""	""	""	""	""	"sporadic hypothalamic hamartoma"	""
"0000297819"	"04214"	"00405270"	"00000"	"Familial, X-linked"	""	""	""	""	""	""	""	""	""	""	""	""	"X-linked retinitis pigmentosa (RP23)"	""
"0000297820"	"04214"	"00405271"	"00000"	"Familial, X-linked"	""	"night blindness, mottled retina without bone spicule-like pigmentation, and extinguished scotopic ERG response in both eyes indicated RP without pigmentation. Progressive decrease in bilateral visual acuity, pale optic discs, abnormal VEP, loss of central visual field, and demyelinating spot in the brain MRI suggested IDON by excluding other optic neuropathies."	"6y"	""	""	"quickly progressive binocular vision loss in 38 days"	""	""	""	""	""	""	"Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis"	""
"0000310502"	"01054"	"00419215"	"00000"	"Familial, X-linked"	"09y09m"	"9y9m: presented to the Emergency Department for evaluation of a one-week history of increased urinary frequency and thirst, also complained of decreased appetite; noted to have a 7 lbs unintentional weight loss over the past week; strong family history of diabetes mellitus; blood glucose finger stick: elevated, 138 mg/dL, urinalysis: glucosuria 100 mg/dL; birth history: remarkable for prematurity (induced at 36 weeks for intrauterine growth restriction), born via Cesarean section secondary to fetal distress; birth weight: 2690g, length: 48.3 cm, monitored in the neonatal intensive care unit for 24 hours for concerns of hypoglycemia given maternal gestational diabetes but his blood glucose levels remained within normal range, noted to have jaundice but did not require phototherapy, passed newborn hearing screen prior to discharge. Past medical history: significant for an endocrine evaluation at 4y3m: polyuria, polydipsia, and weight gain; weight: stable in the 50th percentile until approximately 2 years of age, increased to the 90th percentile, 99th percentile at the time of endocrinology clinic visit; height: 25th percentile at 3y, approximately 15th percentile at the time of his endocrinology visit; evaluation remarkable for an elevated fasting blood glucose level of 113 mg/dL and mildly elevated thyroid stimulating hormone at 5.3 mIU/L (normal range 0.5-4.3 mIU/L); serum creatinine: 0.41 mg/dL, electrolytes: unremarkable; further studies recommended for evaluation of thyroid function and Cushing’s syndrome but not completed at that time; history of multiple sinus and ear infections requiring adenoidectomy and four sets of myringotomy tubes being placed over his lifetime; speech delay as sequela of his frequent ear infections, received speech therapy twice weekly and hearing therapy three times weekly, physical and occupational therapy services until he was in kindergarten for delayed milestones including walking at 16 months of age; receives additional support for reading; formal academic testing: not yet cometed; immunologic evaluation at an outside hospital due to his frequent infections: unremarkable; diagnosed with asthma starting at 1 year of age and: prescribed fluticasone and cetirizine; family history: notable for maternal renal injury secondary to diabetes occurring during pregnancy but not requiring renal replacement therapy; photophobia in his mother, nephrolithiasis in the maternal grandfather and maternal aunt, hypertension in the maternal grandfather, and hearing loss and photophobia in a first cousin on the maternal side; no family history of consanguinity; subjective chills and constipation, waking at night to drink and to void. He denied fever, abdominal pain, daytime or nighttime enuresis, urgency, dysuria, inability to empty his bladder, or hematuria; Emergency Department blood pressure: 123/71 mmHg, weight: 37 kg (82nd percentile), and height: 127.5 cm (3rd percentile); grade 2/6 systolic ejection murmur and hypogonadism; photophobia during his eye exam, no other dysmorphic features noted; initial laboratory work-up: elevated serum creatinine of 4.4 mg/dL, low serum calcium of 7.7 mg/dL (8.8-10.1 mg/dL), and slightly elevated serum phosphorus of 6.1 mg/dL (3.7-5.6 mg/dL), serum intact parathyroid hormone level: elevated at 340 pg/mL (9- 52 pg/mL); complete blood count: normocytic anemia with serum hemoglobin of 8.1 g/dL (11.5-15.5 g/dL); urinalysis: moderate blood, no proteinuria, no leukocyte esterase, and a specific gravity of ≤1.005; renal/bladder ultrasound: small kidneys with right kidney 6.6 cm and left kidney 7.8 cm with increased echogenicity bilaterally and no evidence of cystic disease; echocardiogram given his finding of a murmur: unremarkable; ophthalmology exam performed with concern for cystinosis but cystine crystals not visualized; diagnosed with bilateral retinal dystrophy with 20/50 right and 20/30 left eye; bone age test secondary to concerns of short stature: greater than 2 standard deviations above his chronological a"	""	""	""	""	""	""	""	""	""	"orofaciodigital syndrome, type I (OFD-1)"	""	""
"0000310503"	"01054"	"00419216"	"00000"	"Familial, X-linked"	"00y00m01d"	"delivered by caesarean section at 32 weeks of gestation; pregnancy complicated by polyhydramnios, intrauterine growth retardation, and congenital heart defects; birth weight: 1704 g (-0.2 SD), length: 40.0 cm (-0.8 SD), and occipital frontal circumference: 33.3 cm (+2.0 SD); admitted to a NICU because of respiratory insufficiency, and received mechanical ventilation; craniofacial features: a prominent forehead, hypertelorism, dysplastic ears, a small cleft lip, and a soft cleft palate; ultrasonography: hydrocephalus with Dandy-Walker malformation and hypoplastic left heart syndrome; died 1 day after birth; autopsy findings: agenesis of the cerebellar vermis, enlargement of the fourth ventricle and aqueduct, anomalous positioning of the esophagus, mild pulmonary congestion, and insufficient lobulation of the right lung"	""	""	""	""	""	""	""	""	""	"orofaciodigital syndrome, type I (OFD-1)"	""	""
"0000310504"	"01054"	"00419217"	"00000"	"Familial, X-linked"	"22y"	"very mild, only a few accessory frenulae and irregular teeth with no facial anomalies or tongue abnormalities; radiograph of hands: no abnormalities; an abdominal ultrasonography: no cysts in the kidneys, liver, or pancreas"	""	""	""	""	""	""	""	""	""	"orofaciodigital syndrome, type I (OFD-1)"	""	""
"0000330381"	"00198"	"00440471"	"00006"	"Familial, X-linked recessive"	""	""	""	""	""	""	""	""	""	""	""	"Spondyloepiphyseal dysplasia tarda (MIM #313400)"	""	""
"0000336217"	"00198"	"00447018"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa, autosomal recessive"	""
"0000338041"	"04222"	"00448866"	"00006"	"Isolated (sporadic)"	"32y"	"see paper; ..."	""	""	""	""	""	""	""	""	""	""	"nephronophthisis"	""
"0000349897"	"00332"	"00462398"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"clinical respiratory problems"	""


## Screenings ## Do not remove or alter this header ##
## Count = 49
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000071"	"00000071"	"1"	"00004"	""	"2012-05-11 13:18:58"	"00006"	"2019-02-14 10:06:48"	"SEQ-NG"	"DNA"	""	""
"0000000156"	"00000166"	"1"	"00006"	"00008"	"2012-07-23 11:04:33"	"00006"	"2015-01-17 14:39:08"	"SEQ"	"DNA"	""	""
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000000210"	"00000209"	"1"	"00037"	"00001"	"2012-09-13 12:09:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000028980"	"00028926"	"1"	"01188"	"01188"	"2015-01-06 09:00:23"	""	""	"SEQ-NG-S"	"DNA"	"blood"	""
"0000205320"	"00204291"	"1"	"01741"	"01741"	"2018-11-08 11:25:51"	""	""	"SEQ"	"DNA"	""	""
"0000234633"	"00233534"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234634"	"00233535"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234635"	"00233536"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234636"	"00233537"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234637"	"00233538"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234638"	"00233539"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234899"	"00233800"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000234900"	"00233801"	"1"	"02591"	"02591"	"2019-05-03 15:11:26"	""	""	"SEQ-NG"	"DNA"	""	""
"0000270430"	"00269300"	"1"	"01164"	"01164"	"2019-11-11 16:39:34"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000308896"	"00307756"	"1"	"00006"	"00006"	"2020-08-18 13:19:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"565 gene panel"
"0000310774"	"00309629"	"1"	"00006"	"00006"	"2020-08-30 12:00:40"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000329635"	"00328421"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000332757"	"00331538"	"1"	"00000"	"00006"	"2021-02-11 15:29:38"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000337213"	"00335983"	"1"	"00000"	"00006"	"2021-03-10 17:05:56"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360081"	"00358849"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000360090"	"00358858"	"1"	"00000"	"00006"	"2021-03-16 16:48:35"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000364797"	"00363569"	"1"	"00000"	"00006"	"2021-04-29 14:27:02"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000373531"	"00372302"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373532"	"00372303"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373533"	"00372304"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373534"	"00372305"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373535"	"00372306"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373615"	"00372386"	"1"	"00000"	"00006"	"2021-05-07 09:26:25"	""	""	"SEQ"	"DNA"	""	"27-gene panel"
"0000373879"	"00372647"	"1"	"00000"	"00006"	"2021-05-10 13:08:15"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000378887"	"00377683"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000378888"	"00377684"	"1"	"00000"	"03840"	"2021-08-02 11:30:27"	""	""	"SEQ-NG"	"DNA"	"blood"	"targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome"
"0000380633"	"00379433"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000387931"	"00386703"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;PCRq"	"DNA"	"blood"	""
"0000389330"	"00388091"	"1"	"00000"	"00008"	"2021-11-02 00:52:48"	"00008"	"2021-11-04 08:55:19"	"SEQ-NG"	"DNA"	"blood"	"whole exome sequencing"
"0000396267"	"00395021"	"1"	"00000"	"03840"	"2021-12-03 13:19:14"	""	""	"SEQ-NG"	"DNA"	"blood"	"115 genes causing different inherited kidney diseases"
"0000397957"	"00396714"	"1"	"04116"	"04116"	"2021-12-17 01:02:08"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000397958"	"00396715"	"1"	"04116"	"04116"	"2021-12-17 01:20:48"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000397959"	"00396716"	"1"	"04116"	"04116"	"2021-12-17 01:28:10"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000397960"	"00396717"	"1"	"04116"	"04116"	"2021-12-17 01:44:43"	""	""	"SEQ-NG-I"	"DNA"	""	"WES"
"0000406512"	"00405270"	"1"	"00000"	"00008"	"2022-03-16 13:42:42"	""	""	"SEQ;RT-PCR"	"DNA;RNA"	"blood"	""
"0000406513"	"00405271"	"1"	"00000"	"00008"	"2022-03-16 13:42:42"	""	""	"SEQ-NG"	"DNA"	"blood"	""
"0000420519"	"00419215"	"1"	"00000"	"03840"	"2022-10-18 17:07:16"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"ciliopathy gene panel"
"0000420520"	"00419216"	"1"	"00000"	"03840"	"2022-10-18 20:40:57"	""	""	"microscope;SEQ-NG;SEQ"	"DNA"	""	"G-banded chromosomes were normal (46,XY); exome sequencing"
"0000420521"	"00419217"	"1"	"00000"	"03840"	"2022-10-18 20:40:57"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"G-banded chromosomes were normal (46,XY); exome sequencing"
"0000441956"	"00440471"	"1"	"00006"	"00006"	"2023-11-02 14:36:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000448595"	"00447018"	"1"	"00006"	"00006"	"2024-01-26 09:49:02"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000450457"	"00448866"	"1"	"00006"	"00006"	"2024-04-19 13:49:55"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000464030"	"00462398"	"1"	"00006"	"00006"	"2025-02-10 10:44:37"	""	""	"SEQ-NG"	"DNA"	""	"28-gene panel PCD"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 46
"{{screeningid}}"	"{{geneid}}"
"0000000071"	"ATP7B"
"0000000071"	"ETFB"
"0000000071"	"LAMA2"
"0000000071"	"MTHFR"
"0000000071"	"NHLRC1"
"0000000071"	"NPC1"
"0000000071"	"OFD1"
"0000000071"	"PAH"
"0000000071"	"SERPINA1"
"0000000071"	"SMPD1"
"0000000156"	"HSD17B10"
"0000000156"	"OFD1"
"0000028980"	"OFD1"
"0000205320"	"OFD1"
"0000234633"	"OFD1"
"0000234634"	"OFD1"
"0000234635"	"OFD1"
"0000234636"	"OFD1"
"0000234637"	"OFD1"
"0000234638"	"OFD1"
"0000234899"	"OFD1"
"0000234900"	"OFD1"
"0000308896"	"OFD1"
"0000329635"	"OFD1"
"0000332757"	"OFD1"
"0000337213"	"OFD1"
"0000360081"	"OFD1"
"0000360090"	"OFD1"
"0000364797"	"OFD1"
"0000373531"	"OFD1"
"0000373532"	"OFD1"
"0000373533"	"OFD1"
"0000373534"	"OFD1"
"0000373535"	"OFD1"
"0000373615"	"OFD1"
"0000378887"	"OFD1"
"0000378888"	"OFD1"
"0000380633"	"OFD1"
"0000387931"	"OFD1"
"0000389330"	"OFD1"
"0000396267"	"OFD1"
"0000406512"	"OFD1"
"0000406513"	"OFD1"
"0000420519"	"OFD1"
"0000420520"	"OFD1"
"0000420521"	"OFD1"


## 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 = 242
"{{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}}"
"0000001318"	"0"	"70"	"X"	"13764954"	"13764954"	"del"	"0"	"00002"	"OFD1_000004"	"g.13764954del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.13746835del"	""	"likely pathogenic"	""
"0000002793"	"0"	"30"	"X"	"13775752"	"13775752"	"del"	"0"	"00037"	"OFD1_000007"	"g.13775752del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.13757633del"	""	"likely benign"	""
"0000008405"	"20"	"30"	"X"	"13770564"	"13770564"	"subst"	"0"	"00037"	"OFD1_000005"	"g.13770564T>C"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.13752445T>C"	""	"likely benign"	""
"0000008406"	"0"	"30"	"X"	"13775768"	"13775768"	"dup"	"0"	"00037"	"OFD1_000003"	"g.13775768dup"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.13757649dup"	""	"likely benign"	""
"0000010799"	"0"	"30"	"X"	"13775752"	"13775752"	"del"	"0"	"00037"	"OFD1_000007"	"g.13775752del"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.13757633del"	""	"likely benign"	""
"0000052287"	"20"	"70"	"X"	"13767589"	"13767594"	"del"	"0"	"01188"	"OFD1_000008"	"g.13767589_13767594del"	""	"{PMID:Kroes 2016:25920555}"	""	""	""	"Unknown"	"?"	""	"0"	""	""	"g.13749470_13749475del"	""	"likely pathogenic"	""
"0000052392"	"1"	"50"	"X"	"13764455"	"13764455"	"subst"	"0"	"00124"	"OFD1_000001"	"g.13764455A>T"	"2/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	""	"recurrent, found 2 times"	"Germline"	"?"	""	"0"	""	""	"g.13746336A>T"	""	"VUS"	""
"0000052393"	"1"	"30"	"X"	"13764958"	"13764958"	"subst"	"0.00158766"	"00124"	"OFD1_000002"	"g.13764958T>C"	"1/208 cases"	"{PMID:Tarpey 2009:19377476}"	""	"Y238Y"	"found once, nonrecurrent change"	"Germline"	"?"	""	"0"	""	""	"g.13746839T>C"	""	"likely benign"	""
"0000247724"	"0"	"10"	"X"	"13785309"	"13785309"	"subst"	"0.00112001"	"02330"	"OFD1_000038"	"g.13785309A>C"	""	""	""	"OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13767190A>C"	""	"benign"	""
"0000247991"	"0"	"10"	"X"	"13774739"	"13774739"	"subst"	"0.00162205"	"02325"	"OFD1_000021"	"g.13774739A>G"	""	""	""	"OFD1(NM_003611.2):c.1264A>G (p.K422E), OFD1(NM_003611.3):c.1264A>G (p.K422E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13756620A>G"	""	"benign"	""
"0000248029"	"0"	"10"	"X"	"13771576"	"13771576"	"subst"	"0.348252"	"02325"	"OFD1_000020"	"g.13771576A>G"	""	""	""	"OFD1(NM_003611.2):c.1129+16A>G, OFD1(NM_003611.3):c.1129+16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13753457A>G"	""	"benign"	""
"0000251668"	"0"	"10"	"X"	"13769595"	"13769595"	"subst"	"0"	"02326"	"OFD1_000017"	"g.13769595A>G"	""	""	""	"OFD1(NM_003611.3):c.1055+108A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13751476A>G"	""	"benign"	""
"0000251669"	"0"	"10"	"X"	"13786120"	"13786120"	"subst"	"0"	"02326"	"OFD1_000039"	"g.13786120A>C"	""	""	""	"OFD1(NM_003611.3):c.2758-53A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13768001A>C"	""	"benign"	""
"0000251897"	"0"	"30"	"X"	"13774769"	"13774769"	"subst"	"0.00019258"	"02326"	"OFD1_000022"	"g.13774769A>G"	""	""	""	"OFD1(NM_001330210.1):c.874A>G (p.K292E), OFD1(NM_003611.2):c.1294A>G (p.(Lys432Glu)), OFD1(NM_003611.3):c.1294A>G (p.K432E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13756650A>G"	""	"likely benign"	""
"0000252527"	"0"	"90"	"X"	"13764954"	"13764954"	"del"	"0"	"02326"	"OFD1_000015"	"g.13764954del"	""	""	""	"OFD1(NM_003611.3):c.710delA (p.K237Sfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13746835del"	""	"pathogenic"	""
"0000253252"	"0"	"10"	"X"	"13774739"	"13774739"	"subst"	"0.00162205"	"01943"	"OFD1_000021"	"g.13774739A>G"	""	""	""	"OFD1(NM_003611.2):c.1264A>G (p.K422E), OFD1(NM_003611.3):c.1264A>G (p.K422E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13756620A>G"	""	"benign"	""
"0000253290"	"0"	"10"	"X"	"13771576"	"13771576"	"subst"	"0.348252"	"01943"	"OFD1_000020"	"g.13771576A>G"	""	""	""	"OFD1(NM_003611.2):c.1129+16A>G, OFD1(NM_003611.3):c.1129+16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13753457A>G"	""	"benign"	""
"0000253376"	"0"	"10"	"X"	"13785309"	"13785309"	"subst"	"0.00112001"	"01943"	"OFD1_000038"	"g.13785309A>C"	""	""	""	"OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13767190A>C"	""	"benign"	""
"0000256153"	"0"	"50"	"X"	"13771559"	"13771559"	"subst"	"1.11919E-5"	"01943"	"OFD1_000019"	"g.13771559A>C"	""	""	""	"OFD1(NM_001330210.1):c.708A>C (p.K236N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13753440A>C"	""	"VUS"	""
"0000256199"	"0"	"50"	"X"	"13786846"	"13786846"	"subst"	"3.35926E-5"	"01943"	"OFD1_000041"	"g.13786846A>C"	""	""	""	"OFD1(NM_001330210.1):c.2518A>C (p.K840Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13768727A>C"	""	"VUS"	""
"0000293365"	"0"	"10"	"X"	"13778502"	"13778502"	"subst"	"0.0027803"	"02330"	"OFD1_000027"	"g.13778502G>A"	""	""	""	"OFD1(NM_003611.2):c.1923G>A (p.E641=), OFD1(NM_003611.3):c.1923G>A (p.E641=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760383G>A"	""	"benign"	""
"0000293366"	"0"	"10"	"X"	"13786924"	"13786925"	"del"	"0"	"02330"	"OFD1_000042"	"g.13786924_13786925del"	""	""	""	"OFD1(NM_003611.3):c.2996+20_2996+21delAC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13768805_13768806del"	""	"benign"	""
"0000293367"	"0"	"10"	"X"	"13762591"	"13762591"	"subst"	"0"	"02330"	"OFD1_000013"	"g.13762591G>A"	""	""	""	"OFD1(NM_003611.3):c.470G>A (p.C157Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13744472G>A"	""	"benign"	""
"0000296673"	"0"	"30"	"X"	"13778321"	"13778321"	"subst"	"3.91512E-5"	"02325"	"OFD1_000026"	"g.13778321G>A"	""	""	""	"OFD1(NM_003611.3):c.1742G>A (p.(Cys581Tyr), p.C581Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760202G>A"	""	"likely benign"	""
"0000296674"	"0"	"30"	"X"	"13778502"	"13778502"	"subst"	"0.0027803"	"02325"	"OFD1_000027"	"g.13778502G>A"	""	""	""	"OFD1(NM_003611.2):c.1923G>A (p.E641=), OFD1(NM_003611.3):c.1923G>A (p.E641=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760383G>A"	""	"likely benign"	""
"0000296675"	"0"	"30"	"X"	"13778851"	"13778851"	"subst"	"0.000137553"	"02325"	"OFD1_000034"	"g.13778851G>A"	""	""	""	"OFD1(NM_003611.3):c.2260+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760732G>A"	""	"likely benign"	""
"0000300512"	"0"	"10"	"X"	"13770844"	"13770844"	"subst"	"0"	"02326"	"OFD1_000018"	"g.13770844C>T"	""	""	""	"OFD1(NM_003611.3):c.1056-643C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13752725C>T"	""	"benign"	""
"0000300513"	"0"	"10"	"X"	"13754534"	"13754534"	"subst"	"0"	"02326"	"OFD1_000011"	"g.13754534C>T"	""	""	""	"OFD1(NM_003611.3):c.112-63C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13736415C>T"	""	"benign"	""
"0000300514"	"0"	"30"	"X"	"13778273"	"13778273"	"subst"	"0.00119703"	"02326"	"OFD1_000025"	"g.13778273T>C"	""	""	""	"OFD1(NM_001330210.1):c.1274T>C (p.V425A), OFD1(NM_001330210.2):c.1274T>C (p.V425A), OFD1(NM_003611.3):c.1694T>C (p.V565A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760154T>C"	""	"likely benign"	""
"0000300515"	"0"	"30"	"X"	"13778502"	"13778502"	"subst"	"0.0027803"	"02326"	"OFD1_000027"	"g.13778502G>A"	""	""	""	"OFD1(NM_003611.2):c.1923G>A (p.E641=), OFD1(NM_003611.3):c.1923G>A (p.E641=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760383G>A"	""	"likely benign"	""
"0000300516"	"0"	"30"	"X"	"13778639"	"13778639"	"subst"	"0.000301091"	"02326"	"OFD1_000030"	"g.13778639C>T"	""	""	""	"OFD1(NM_001330210.2):c.1640C>T (p.P547L), OFD1(NM_003611.3):c.2060C>T (p.P687L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760520C>T"	""	"likely benign"	""
"0000300517"	"0"	"30"	"X"	"13778781"	"13778781"	"subst"	"5.63657E-6"	"02326"	"OFD1_000032"	"g.13778781C>G"	""	""	""	"OFD1(NM_003611.3):c.2202C>G (p.L734=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760662C>G"	""	"likely benign"	""
"0000300518"	"0"	"30"	"X"	"13778822"	"13778822"	"subst"	"0"	"02326"	"OFD1_000033"	"g.13778822G>A"	""	""	""	"OFD1(NM_003611.3):c.2243G>A (p.(Ser748Asn), p.S748N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760703G>A"	""	"likely benign"	""
"0000300519"	"0"	"30"	"X"	"13779341"	"13779341"	"subst"	"0.0130494"	"02326"	"OFD1_000036"	"g.13779341C>T"	""	""	""	"OFD1(NM_003611.2):c.2387+11C>T, OFD1(NM_003611.3):c.2387+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13761222C>T"	""	"likely benign"	""
"0000300520"	"0"	"10"	"X"	"13779421"	"13779421"	"del"	"0"	"02326"	"OFD1_000037"	"g.13779421del"	""	""	""	"OFD1(NM_003611.3):c.2387+91delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13761302del"	""	"benign"	""
"0000300521"	"0"	"30"	"X"	"13786356"	"13786356"	"subst"	"0"	"02326"	"OFD1_000040"	"g.13786356T>C"	""	""	""	"OFD1(NM_003611.3):c.2928+13T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13768237T>C"	""	"likely benign"	""
"0000304766"	"0"	"30"	"X"	"13778273"	"13778273"	"subst"	"0.00119703"	"01943"	"OFD1_000025"	"g.13778273T>C"	""	""	""	"OFD1(NM_001330210.1):c.1274T>C (p.V425A), OFD1(NM_001330210.2):c.1274T>C (p.V425A), OFD1(NM_003611.3):c.1694T>C (p.V565A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760154T>C"	""	"likely benign"	""
"0000304767"	"0"	"30"	"X"	"13778502"	"13778502"	"subst"	"0.0027803"	"01943"	"OFD1_000027"	"g.13778502G>A"	""	""	""	"OFD1(NM_003611.2):c.1923G>A (p.E641=), OFD1(NM_003611.3):c.1923G>A (p.E641=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760383G>A"	""	"likely benign"	""
"0000304768"	"0"	"10"	"X"	"13778631"	"13778631"	"subst"	"0.00335561"	"01943"	"OFD1_000029"	"g.13778631C>T"	""	""	""	"OFD1(NM_003611.2):c.2052C>T (p.S684=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760512C>T"	""	"benign"	""
"0000304769"	"0"	"30"	"X"	"13778715"	"13778715"	"subst"	"1.7179E-5"	"01943"	"OFD1_000031"	"g.13778715C>T"	""	""	""	"OFD1(NM_003611.2):c.2136C>T (p.D712=), OFD1(NM_003611.3):c.2136C>T (p.D712=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760596C>T"	""	"likely benign"	""
"0000304770"	"0"	"10"	"X"	"13779341"	"13779341"	"subst"	"0.0130494"	"01943"	"OFD1_000036"	"g.13779341C>T"	""	""	""	"OFD1(NM_003611.2):c.2387+11C>T, OFD1(NM_003611.3):c.2387+11C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13761222C>T"	""	"benign"	""
"0000304771"	"0"	"50"	"X"	"13769414"	"13769414"	"subst"	"0"	"01943"	"OFD1_000016"	"g.13769414C>T"	""	""	""	"OFD1(NM_003611.2):c.982C>T (p.L328F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13751295C>T"	""	"VUS"	""
"0000317011"	"0"	"30"	"X"	"13752240"	"13752240"	"subst"	"0.000399118"	"01943"	"OFD1_000009"	"g.13752240C>T"	""	""	""	"TRAPPC2(NM_001128835.2):c.12G>A (p.W4*), TRAPPC2(NM_001128835.3):c.12G>A (p.(Trp4Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13734121C>T"	""	"likely benign"	""
"0000333198"	"0"	"50"	"X"	"13752240"	"13752240"	"subst"	"0.000399118"	"01804"	"OFD1_000009"	"g.13752240C>T"	""	""	""	"TRAPPC2(NM_001128835.2):c.12G>A (p.W4*), TRAPPC2(NM_001128835.3):c.12G>A (p.(Trp4Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13734121C>T"	""	"VUS"	""
"0000333199"	"0"	"50"	"X"	"13752306"	"13752309"	"del"	"0"	"01804"	"OFD1_000010"	"g.13752306_13752309del"	""	""	""	"TRAPPC2(NM_001011658.3):c.-161-3_-161del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13734187_13734190del"	""	"VUS"	""
"0000333200"	"0"	"50"	"X"	"13754649"	"13754649"	"subst"	"0"	"01804"	"OFD1_000012"	"g.13754649G>T"	""	""	""	"OFD1(NM_003611.2):c.164G>T (p.(Gly55Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13736530G>T"	""	"VUS"	""
"0000333201"	"0"	"50"	"X"	"13762646"	"13762646"	"subst"	"2.84612E-5"	"01804"	"OFD1_000014"	"g.13762646T>C"	""	""	""	"OFD1(NM_003611.2):c.517+8T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13744527T>C"	""	"VUS"	""
"0000333202"	"0"	"50"	"X"	"13774769"	"13774769"	"subst"	"0.00019258"	"01804"	"OFD1_000022"	"g.13774769A>G"	""	""	""	"OFD1(NM_001330210.1):c.874A>G (p.K292E), OFD1(NM_003611.2):c.1294A>G (p.(Lys432Glu)), OFD1(NM_003611.3):c.1294A>G (p.K432E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13756650A>G"	""	"VUS"	""
"0000333203"	"0"	"30"	"X"	"13775771"	"13775771"	"subst"	"0"	"01804"	"OFD1_000023"	"g.13775771C>T"	""	""	""	"OFD1(NM_001330210.1):c.992-8C>T, OFD1(NM_003611.2):c.1412-8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13757652C>T"	""	"likely benign"	""
"0000333204"	"0"	"30"	"X"	"13775774"	"13775774"	"subst"	"0"	"01804"	"OFD1_000024"	"g.13775774C>T"	""	""	""	"OFD1(NM_001330210.1):c.992-5C>T, OFD1(NM_003611.2):c.1412-5C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13757655C>T"	""	"likely benign"	""
"0000333205"	"0"	"50"	"X"	"13778569"	"13778569"	"subst"	"0"	"01804"	"OFD1_000028"	"g.13778569C>A"	""	""	""	"OFD1(NM_003611.2):c.1990C>A (p.(Pro664Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13760450C>A"	""	"VUS"	""
"0000333206"	"0"	"50"	"X"	"13779315"	"13779315"	"subst"	"3.9165E-5"	"01804"	"OFD1_000035"	"g.13779315C>T"	""	""	""	"OFD1(NM_003611.2):c.2372C>T (p.(Pro791Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13761196C>T"	""	"VUS"	""
"0000333207"	"0"	"50"	"X"	"13785309"	"13785309"	"subst"	"0.00112001"	"01804"	"OFD1_000038"	"g.13785309A>C"	""	""	""	"OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13767190A>C"	""	"VUS"	""
"0000337185"	"0"	"90"	"X"	"13737985"	"13737985"	"subst"	"0"	"02327"	"TRAPPC2_000006"	"g.13737985C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13719866C>T"	""	"pathogenic"	""
"0000342152"	"0"	"30"	"X"	"13764488"	"13764488"	"subst"	"0"	"02327"	"OFD1_000048"	"g.13764488C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13746369C>T"	""	"likely benign"	""
"0000342744"	"0"	"90"	"X"	"13771530"	"13771530"	"subst"	"0"	"02327"	"OFD1_000051"	"g.13771530C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13753411C>T"	""	"pathogenic"	""
"0000344216"	"0"	"50"	"X"	"13786874"	"13786874"	"subst"	"0"	"02327"	"OFD1_000055"	"g.13786874A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13768755A>T"	""	"VUS"	""
"0000345005"	"0"	"90"	"X"	"13734176"	"13734176"	"subst"	"0"	"02327"	"TRAPPC2_000002"	"g.13734176G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13716057G>A"	""	"pathogenic"	""
"0000347821"	"0"	"70"	"X"	"13738081"	"13738081"	"subst"	"0"	"02327"	"TRAPPC2_000007"	"g.13738081A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13719962A>G"	""	"likely pathogenic"	""
"0000348681"	"0"	"90"	"X"	"13757015"	"13757015"	"dup"	"0"	"02327"	"OFD1_000044"	"g.13757015dup"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13738896dup"	""	"pathogenic"	""
"0000348762"	"0"	"50"	"X"	"13762612"	"13762612"	"subst"	"5.61038E-6"	"02327"	"OFD1_000047"	"g.13762612G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13744493G>A"	""	"VUS"	""
"0000350057"	"0"	"70"	"X"	"13771512"	"13771512"	"subst"	"0"	"02327"	"OFD1_000050"	"g.13771512T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13753393T>C"	""	"likely pathogenic"	""
"0000350210"	"0"	"70"	"X"	"13754745"	"13754745"	"subst"	"0"	"02327"	"OFD1_000043"	"g.13754745A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13736626A>G"	""	"likely pathogenic"	""
"0000350905"	"0"	"10"	"X"	"13771576"	"13771576"	"subst"	"0.348252"	"02327"	"OFD1_000020"	"g.13771576A>G"	""	""	""	"OFD1(NM_003611.2):c.1129+16A>G, OFD1(NM_003611.3):c.1129+16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.13753457A>G"	""	"benign"	""
"0000434681"	"0"	"70"	"X"	"13754727"	"13754727"	"subst"	"0"	"01741"	"OFD1_000056"	"g.13754727A>T"	""	""	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.13736608A>T"	""	"likely pathogenic"	""
"0000477341"	"0"	"50"	"X"	"13778282"	"13778282"	"subst"	"1.67811E-5"	"02591"	"OFD1_000057"	"g.13778282G>A"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs376012267"	"0"	""	""	"g.13760163G>A"	""	"VUS"	""
"0000477342"	"0"	"50"	"X"	"13778509"	"13778509"	"subst"	"0.000232209"	"02591"	"OFD1_000058"	"g.13778509C>T"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs185831378"	"0"	""	""	"g.13760390C>T"	""	"VUS"	""
"0000477343"	"0"	"50"	"X"	"13778696"	"13778696"	"subst"	"0.000152199"	"02591"	"OFD1_000059"	"g.13778696C>T"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs773224811"	"0"	""	""	"g.13760577C>T"	""	"VUS"	""
"0000477344"	"0"	"50"	"X"	"13779315"	"13779315"	"subst"	"3.9165E-5"	"02591"	"OFD1_000035"	"g.13779315C>T"	"4/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs753498008"	"0"	""	""	"g.13761196C>T"	""	"VUS"	""
"0000477345"	"0"	"50"	"X"	"13781899"	"13781899"	"subst"	"0.000699586"	"02591"	"OFD1_000060"	"g.13781899G>A"	"16/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs146047094"	"0"	""	""	"g.13763780G>A"	""	"VUS"	""
"0000477346"	"0"	"90"	"X"	"13785240"	"13785240"	"subst"	"0"	"02591"	"OFD1_000061"	"g.13785240del"	"1/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs766872363"	"0"	""	""	"g.13767121del"	""	"pathogenic"	""
"0000477607"	"3"	"50"	"X"	"13779315"	"13779315"	"subst"	"3.9165E-5"	"02591"	"OFD1_000035"	"g.13779315C>T"	"2/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs753498008"	"0"	""	""	"g.13761196C>T"	""	"VUS"	""
"0000477608"	"3"	"50"	"X"	"13781899"	"13781899"	"subst"	"0.000699586"	"02591"	"OFD1_000060"	"g.13781899G>A"	"3/1204 cases with retinitis pigmentosa"	"{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}"	""	""	""	"Germline"	""	"rs146047094"	"0"	""	""	"g.13763780G>A"	""	"VUS"	""
"0000573831"	"0"	"90"	"X"	"13732585"	"13732585"	"subst"	"0"	"02327"	"OFD1_000062"	"g.13732585G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13714466G>A"	""	"pathogenic"	""
"0000573832"	"0"	"50"	"X"	"13734648"	"13734648"	"subst"	"0"	"02327"	"OFD1_000063"	"g.13734648G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13716529G>A"	""	"VUS"	""
"0000573833"	"0"	"30"	"X"	"13734780"	"13734780"	"subst"	"8.99564E-5"	"01943"	"OFD1_000064"	"g.13734780C>T"	""	""	""	"TRAPPC2(NM_001011658.3):c.111G>A (p.L37=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13716661C>T"	""	"likely benign"	""
"0000573834"	"0"	"50"	"X"	"13738082"	"13738082"	"subst"	"0"	"02327"	"OFD1_000065"	"g.13738082T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13719963T>C"	""	"VUS"	""
"0000573835"	"0"	"30"	"X"	"13753364"	"13753364"	"subst"	"5.59256E-6"	"01943"	"OFD1_000066"	"g.13753364T>C"	""	""	""	"OFD1(NM_001330210.1):c.-533-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13735245T>C"	""	"likely benign"	""
"0000573837"	"0"	"90"	"X"	"13754657"	"13754657"	"subst"	"0"	"02327"	"OFD1_000068"	"g.13754657C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13736538C>T"	""	"pathogenic"	""
"0000573838"	"0"	"30"	"X"	"13756958"	"13756958"	"dup"	"0"	"02330"	"OFD1_000069"	"g.13756958dup"	""	""	""	"OFD1(NM_003611.3):c.313-7dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13738839dup"	""	"likely benign"	""
"0000573839"	"0"	"30"	"X"	"13756965"	"13756965"	"subst"	"5.69667E-6"	"02330"	"OFD1_000070"	"g.13756965G>A"	""	""	""	"OFD1(NM_003611.3):c.313G>A (p.V105I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13738846G>A"	""	"likely benign"	""
"0000573840"	"0"	"30"	"X"	"13762658"	"13762658"	"subst"	"0.000535033"	"02330"	"OFD1_000071"	"g.13762658T>C"	""	""	""	"OFD1(NM_001330210.1):c.97+20T>C, OFD1(NM_003611.3):c.517+20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13744539T>C"	""	"likely benign"	""
"0000573841"	"0"	"10"	"X"	"13764958"	"13764958"	"subst"	"0.00158766"	"02330"	"OFD1_000002"	"g.13764958T>C"	""	""	""	"OFD1(NM_001330210.1):c.294T>C (p.Y98=), OFD1(NM_003611.3):c.714T>C (p.Y238=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13746839T>C"	""	"benign"	""
"0000573842"	"0"	"30"	"X"	"13764958"	"13764958"	"subst"	"0.00158766"	"01943"	"OFD1_000002"	"g.13764958T>C"	""	""	""	"OFD1(NM_001330210.1):c.294T>C (p.Y98=), OFD1(NM_003611.3):c.714T>C (p.Y238=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13746839T>C"	""	"likely benign"	""
"0000573843"	"0"	"30"	"X"	"13765025"	"13765025"	"subst"	"9.51539E-5"	"01943"	"OFD1_000072"	"g.13765025G>A"	""	""	""	"OFD1(NM_001330210.1):c.361G>A (p.V121I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13746906G>A"	""	"likely benign"	""
"0000573845"	"0"	"50"	"X"	"13769462"	"13769462"	"subst"	"1.12919E-5"	"01804"	"OFD1_000074"	"g.13769462C>T"	""	""	""	"OFD1(NM_003611.2):c.1030C>T (p.(Arg344Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13751343C>T"	""	"VUS"	""
"0000573846"	"0"	"50"	"X"	"13769478"	"13769478"	"subst"	"0"	"02327"	"OFD1_000075"	"g.13769478A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13751359A>G"	""	"VUS"	""
"0000573848"	"0"	"50"	"X"	"13771531"	"13771531"	"subst"	"5.59628E-6"	"02330"	"OFD1_000076"	"g.13771531G>A"	""	""	""	"OFD1(NM_003611.3):c.1100G>A (p.R367Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13753412G>A"	""	"VUS"	""
"0000573849"	"0"	"30"	"X"	"13771542"	"13771542"	"subst"	"0"	"01943"	"OFD1_000077"	"g.13771542G>A"	""	""	""	"OFD1(NM_001330210.1):c.691G>A (p.D231N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13753423G>A"	""	"likely benign"	""
"0000573850"	"0"	"30"	"X"	"13771568"	"13771568"	"subst"	"7.28055E-5"	"01804"	"OFD1_000078"	"g.13771568T>A"	""	""	""	"OFD1(NM_003611.2):c.1129+8T>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13753449T>A"	""	"likely benign"	""
"0000573854"	"0"	"30"	"X"	"13775769"	"13775769"	"subst"	"0"	"01943"	"OFD1_000081"	"g.13775769A>T"	""	""	""	"OFD1(NM_001330210.1):c.992-10A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13757650A>T"	""	"likely benign"	""
"0000573855"	"0"	"30"	"X"	"13775769"	"13775771"	"del"	"0"	"01804"	"OFD1_000082"	"g.13775769_13775771del"	""	""	""	"OFD1(NM_003611.2):c.1412-10_1412-8del (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13757650_13757652del"	""	"likely benign"	""
"0000573856"	"0"	"30"	"X"	"13775770"	"13775770"	"subst"	"0"	"01943"	"OFD1_000083"	"g.13775770C>T"	""	""	""	"OFD1(NM_001330210.1):c.992-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13757651C>T"	""	"likely benign"	""
"0000573857"	"0"	"30"	"X"	"13775771"	"13775771"	"subst"	"0"	"01943"	"OFD1_000023"	"g.13775771C>T"	""	""	""	"OFD1(NM_001330210.1):c.992-8C>T, OFD1(NM_003611.2):c.1412-8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13757652C>T"	""	"likely benign"	""
"0000573858"	"0"	"30"	"X"	"13775774"	"13775774"	"subst"	"0"	"01943"	"OFD1_000024"	"g.13775774C>T"	""	""	""	"OFD1(NM_001330210.1):c.992-5C>T, OFD1(NM_003611.2):c.1412-5C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13757655C>T"	""	"likely benign"	""
"0000573859"	"0"	"10"	"X"	"13776575"	"13776575"	"subst"	"0.000483598"	"02330"	"OFD1_000084"	"g.13776575A>G"	""	""	""	"OFD1(NM_001330210.1):c.1234+8A>G, OFD1(NM_003611.3):c.1654+8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13758456A>G"	""	"benign"	""
"0000573860"	"0"	"30"	"X"	"13778263"	"13778263"	"subst"	"0"	"02327"	"OFD1_000085"	"g.13778263A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760144A>C"	""	"likely benign"	""
"0000573861"	"0"	"30"	"X"	"13778322"	"13778322"	"subst"	"0"	"01943"	"OFD1_000086"	"g.13778322C>G"	""	""	""	"OFD1(NM_001330210.1):c.1323C>G (p.C441W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760203C>G"	""	"likely benign"	""
"0000573862"	"0"	"50"	"X"	"13778374"	"13778374"	"subst"	"5.5935E-6"	"01943"	"OFD1_000087"	"g.13778374G>A"	""	""	""	"OFD1(NM_003611.2):c.1795G>A (p.V599I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760255G>A"	""	"VUS"	""
"0000573863"	"0"	"30"	"X"	"13778388"	"13778388"	"subst"	"1.11864E-5"	"01943"	"OFD1_000088"	"g.13778388G>T"	""	""	""	"OFD1(NM_001330210.1):c.1389G>T (p.M463I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760269G>T"	""	"likely benign"	""
"0000573864"	"0"	"30"	"X"	"13778416"	"13778416"	"subst"	"3.91536E-5"	"02330"	"OFD1_000089"	"g.13778416A>G"	""	""	""	"OFD1(NM_003611.3):c.1837A>G (p.T613A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760297A>G"	""	"likely benign"	""
"0000573865"	"0"	"30"	"X"	"13778540"	"13778540"	"subst"	"0.000108915"	"01943"	"OFD1_000090"	"g.13778540G>A"	""	""	""	"OFD1(NM_001330210.1):c.1541G>A (p.R514Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760421G>A"	""	"likely benign"	""
"0000573867"	"0"	"30"	"X"	"13778657"	"13778657"	"subst"	"0"	"01804"	"OFD1_000092"	"g.13778657G>A"	""	""	""	"OFD1(NM_001330210.1):c.1658G>A (p.G553E), OFD1(NM_003611.2):c.2078G>A (p.(Gly693Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760538G>A"	""	"likely benign"	""
"0000573868"	"0"	"30"	"X"	"13778657"	"13778657"	"subst"	"0"	"02327"	"OFD1_000092"	"g.13778657G>A"	""	""	""	"OFD1(NM_001330210.1):c.1658G>A (p.G553E), OFD1(NM_003611.2):c.2078G>A (p.(Gly693Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760538G>A"	""	"likely benign"	""
"0000573869"	"0"	"30"	"X"	"13778718"	"13778718"	"subst"	"2.28123E-5"	"02330"	"OFD1_000093"	"g.13778718C>T"	""	""	""	"OFD1(NM_001330210.1):c.1719C>T (p.V573=), OFD1(NM_003611.3):c.2139C>T (p.V713=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760599C>T"	""	"likely benign"	""
"0000573870"	"0"	"50"	"X"	"13778818"	"13778818"	"subst"	"5.66781E-6"	"01943"	"OFD1_000094"	"g.13778818G>A"	""	""	""	"OFD1(NM_001330210.1):c.1819G>A (p.E607K), OFD1(NM_003611.2):c.2239G>A (p.(Glu747Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760699G>A"	""	"VUS"	""
"0000573871"	"0"	"30"	"X"	"13778818"	"13778818"	"subst"	"5.66781E-6"	"01804"	"OFD1_000094"	"g.13778818G>A"	""	""	""	"OFD1(NM_001330210.1):c.1819G>A (p.E607K), OFD1(NM_003611.2):c.2239G>A (p.(Glu747Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760699G>A"	""	"likely benign"	""
"0000573872"	"0"	"10"	"X"	"13778851"	"13778851"	"subst"	"0.000137553"	"02330"	"OFD1_000034"	"g.13778851G>A"	""	""	""	"OFD1(NM_003611.3):c.2260+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760732G>A"	""	"benign"	""
"0000573876"	"0"	"10"	"X"	"13779421"	"13779421"	"dup"	"0"	"02326"	"OFD1_000096"	"g.13779421dup"	""	""	""	"OFD1(NM_003611.3):c.2387+91dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13761302dup"	""	"benign"	""
"0000573877"	"0"	"30"	"X"	"13780455"	"13780455"	"subst"	"0"	"02330"	"OFD1_000097"	"g.13780455C>T"	""	""	""	"OFD1(NM_003611.3):c.2388-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13762336C>T"	""	"likely benign"	""
"0000573878"	"0"	"30"	"X"	"13781853"	"13781853"	"subst"	"3.92451E-5"	"02326"	"OFD1_000098"	"g.13781853G>A"	""	""	""	"OFD1(NM_003611.3):c.2489-11G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13763734G>A"	""	"likely benign"	""
"0000573879"	"0"	"30"	"X"	"13781899"	"13781899"	"subst"	"0.000699586"	"01804"	"OFD1_000060"	"g.13781899G>A"	""	""	""	"OFD1(NM_003611.2):c.2524G>A (p.(Gly842Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13763780G>A"	""	"likely benign"	""
"0000573880"	"0"	"10"	"X"	"13785309"	"13785309"	"subst"	"0.00112001"	"02326"	"OFD1_000038"	"g.13785309A>C"	""	""	""	"OFD1(NM_003611.2):c.2663A>C (p.K888T, p.(Lys888Thr)), OFD1(NM_003611.3):c.2663A>C (p.K888T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13767190A>C"	""	"benign"	""
"0000573881"	"0"	"10"	"X"	"13786819"	"13786819"	"subst"	"0.00678463"	"02330"	"OFD1_000099"	"g.13786819C>T"	""	""	""	"OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13768700C>T"	""	"benign"	""
"0000573882"	"0"	"10"	"X"	"13786819"	"13786819"	"subst"	"0.00678463"	"01943"	"OFD1_000099"	"g.13786819C>T"	""	""	""	"OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13768700C>T"	""	"benign"	""
"0000573883"	"0"	"10"	"X"	"13786819"	"13786819"	"subst"	"0.00678463"	"02325"	"OFD1_000099"	"g.13786819C>T"	""	""	""	"OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13768700C>T"	""	"benign"	""
"0000573884"	"0"	"10"	"X"	"13786819"	"13786819"	"subst"	"0.00678463"	"02326"	"OFD1_000099"	"g.13786819C>T"	""	""	""	"OFD1(NM_003611.2):c.2929-18C>T, OFD1(NM_003611.3):c.2929-18C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13768700C>T"	""	"benign"	""
"0000573885"	"0"	"50"	"X"	"13791078"	"13791078"	"subst"	"5.62205E-6"	"01943"	"OFD1_000100"	"g.13791078C>G"	""	""	""	"GPM6B(NM_001001995.3):c.909G>C (p.Q303H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13772959C>G"	""	"VUS"	""
"0000604189"	"0"	"90"	"X"	"13764897"	"13764897"	"subst"	"0"	"01164"	"OFD1_000101"	"g.13764897A>T"	""	""	""	""	"ACMG: PVS1,PS2,PM2; not regarded causative for the phenotype in this individual; presumed lethality to af fected males during gestation (most ma le conceptuses with an OFD1 pathogenic  variant miscarry)"	"Germline"	""	""	"0"	""	""	"g.13746778A>T"	""	"pathogenic"	"ACMG"
"0000619047"	"0"	"30"	"X"	"13762624"	"13762624"	"subst"	"5.6206E-6"	"01943"	"OFD1_000103"	"g.13762624A>T"	""	""	""	"OFD1(NM_001330210.1):c.83A>T (p.N28I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13744505A>T"	""	"likely benign"	""
"0000619048"	"0"	"30"	"X"	"13767656"	"13767656"	"subst"	"0"	"01804"	"OFD1_000104"	"g.13767656A>G"	""	""	""	"OFD1(NM_003611.2):c.935+4A>G (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13749537A>G"	""	"likely benign"	""
"0000619049"	"0"	"30"	"X"	"13778282"	"13778282"	"subst"	"1.67811E-5"	"01943"	"OFD1_000057"	"g.13778282G>A"	""	""	""	"OFD1(NM_001330210.1):c.1283G>A (p.R428H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13760163G>A"	""	"likely benign"	""
"0000619050"	"0"	"10"	"X"	"13779319"	"13779319"	"subst"	"0.000822525"	"02330"	"OFD1_000106"	"g.13779319G>A"	""	""	""	"OFD1(NM_003611.3):c.2376G>A (p.E792=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13761200G>A"	""	"benign"	""
"0000624445"	"0"	"30"	"X"	"13754755"	"13754755"	"subst"	"9.51044E-5"	"01943"	"OFD1_000102"	"g.13754755A>C"	""	""	""	"OFD1(NM_003611.2):c.270A>C (p.S90=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13736636A>C"	""	"likely benign"	""
"0000624446"	"0"	"30"	"X"	"13776575"	"13776575"	"subst"	"0.000483598"	"01943"	"OFD1_000084"	"g.13776575A>G"	""	""	""	"OFD1(NM_001330210.1):c.1234+8A>G, OFD1(NM_003611.3):c.1654+8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13758456A>G"	""	"likely benign"	""
"0000659104"	"0"	"30"	"X"	"13753408"	"13753408"	"subst"	"0.000363506"	"01943"	"OFD1_000067"	"g.13753408A>G"	""	""	""	"OFD1(NM_003611.2):c.54A>G (p.E18=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.13735289A>G"	""	"likely benign"	""
"0000682129"	"0"	"30"	"X"	"13734657"	"13734657"	"subst"	"0.000101097"	"01943"	"OFD1_000107"	"g.13734657C>T"	""	""	""	"TRAPPC2(NM_001011658.3):c.234G>A (p.A78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682130"	"0"	"30"	"X"	"13776576"	"13776576"	"subst"	"0.000522721"	"02326"	"OFD1_000108"	"g.13776576C>T"	""	""	""	"OFD1(NM_001330210.2):c.1234+9C>T, OFD1(NM_003611.3):c.1654+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682131"	"0"	"30"	"X"	"13778278"	"13778278"	"subst"	"0"	"01943"	"OFD1_000109"	"g.13778278G>T"	""	""	""	"OFD1(NM_001330210.1):c.1279G>T (p.D427Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682132"	"0"	"30"	"X"	"13778657"	"13778657"	"subst"	"0"	"01943"	"OFD1_000092"	"g.13778657G>A"	""	""	""	"OFD1(NM_001330210.1):c.1658G>A (p.G553E), OFD1(NM_003611.2):c.2078G>A (p.(Gly693Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000682133"	"0"	"30"	"X"	"13778715"	"13778715"	"subst"	"1.7179E-5"	"02326"	"OFD1_000031"	"g.13778715C>T"	""	""	""	"OFD1(NM_003611.2):c.2136C>T (p.D712=), OFD1(NM_003611.3):c.2136C>T (p.D712=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000683330"	"0"	"70"	"X"	"13785290"	"13785290"	"del"	"0"	"00006"	"OFD1_000110"	"g.13785290del"	""	"{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.13767171del"	""	"likely pathogenic"	""
"0000685753"	"21"	"70"	"X"	"13757010"	"13757010"	"subst"	"2.24034E-5"	"00006"	"OFD1_000111"	"g.13757010A>G"	""	"{PMID:Chen 2018:29843741}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic (recessive)"	""
"0000693382"	"0"	"30"	"X"	"13757161"	"13757161"	"subst"	"2.31941E-5"	"01943"	"OFD1_000112"	"g.13757161G>A"	""	""	""	"OFD1(NM_001330210.1):c.-134+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693383"	"0"	"30"	"X"	"13778612"	"13778612"	"subst"	"0.000635669"	"01943"	"OFD1_000091"	"g.13778612C>G"	""	""	""	"OFD1(NM_001330210.1):c.1613C>G (p.A538G), OFD1(NM_001330210.2):c.1613C>G (p.A538G), OFD1(NM_003611.3):c.2033C>G (p.A678G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693384"	"0"	"30"	"X"	"13778718"	"13778718"	"subst"	"2.28123E-5"	"01943"	"OFD1_000093"	"g.13778718C>T"	""	""	""	"OFD1(NM_001330210.1):c.1719C>T (p.V573=), OFD1(NM_003611.3):c.2139C>T (p.V713=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000693385"	"0"	"30"	"X"	"13785293"	"13785293"	"subst"	"2.24235E-5"	"01943"	"OFD1_000113"	"g.13785293C>T"	""	""	""	"OFD1(NM_001330210.1):c.2227C>T (p.R743W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000713983"	"1"	"70"	"X"	"13778788"	"13778788"	"subst"	"3.94867E-5"	"00000"	"OFD1_000114"	"g.13778788A>G"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13760669A>G"	""	"likely pathogenic"	""
"0000728477"	"0"	"30"	"X"	"13753428"	"13753428"	"subst"	"5.59247E-6"	"01943"	"OFD1_000115"	"g.13753428A>G"	""	""	""	"OFD1(NM_003611.2):c.74A>G (p.Q25R), OFD1(NM_003611.3):c.74A>G (p.Q25R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728478"	"0"	"30"	"X"	"13762658"	"13762658"	"subst"	"0.000535033"	"02326"	"OFD1_000071"	"g.13762658T>C"	""	""	""	"OFD1(NM_001330210.1):c.97+20T>C, OFD1(NM_003611.3):c.517+20T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728479"	"0"	"90"	"X"	"13764954"	"13764954"	"dup"	"0"	"01804"	"OFD1_000049"	"g.13764954dup"	""	""	""	"OFD1(NM_003611.2):c.710dup (p.(Tyr238Valfs*2))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000728480"	"0"	"30"	"X"	"13767575"	"13767575"	"subst"	"2.80145E-5"	"01943"	"OFD1_000116"	"g.13767575G>A"	""	""	""	"OFD1(NM_001330210.1):c.438G>A (p.R146=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728481"	"0"	"50"	"X"	"13773322"	"13773324"	"del"	"0"	"02325"	"OFD1_000052"	"g.13773322_13773324del"	""	""	""	"OFD1(NM_003611.3):c.1182_1184delGGA (p.E395del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728482"	"0"	"30"	"X"	"13774769"	"13774769"	"subst"	"0.00019258"	"01943"	"OFD1_000022"	"g.13774769A>G"	""	""	""	"OFD1(NM_001330210.1):c.874A>G (p.K292E), OFD1(NM_003611.2):c.1294A>G (p.(Lys432Glu)), OFD1(NM_003611.3):c.1294A>G (p.K432E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728483"	"0"	"50"	"X"	"13774838"	"13774838"	"subst"	"0"	"02329"	"OFD1_000079"	"g.13774838A>C"	""	""	""	"OFD1(NM_003611.3):c.1363A>C (p.K455Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000728484"	"0"	"30"	"X"	"13775823"	"13775823"	"subst"	"0"	"01943"	"OFD1_000117"	"g.13775823C>T"	""	""	""	"OFD1(NM_001330210.1):c.1036C>T (p.L346=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728485"	"0"	"30"	"X"	"13776575"	"13776575"	"subst"	"0.000483598"	"02326"	"OFD1_000084"	"g.13776575A>G"	""	""	""	"OFD1(NM_001330210.1):c.1234+8A>G, OFD1(NM_003611.3):c.1654+8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728486"	"0"	"30"	"X"	"13778639"	"13778639"	"subst"	"0.000301091"	"02330"	"OFD1_000030"	"g.13778639C>T"	""	""	""	"OFD1(NM_001330210.2):c.1640C>T (p.P547L), OFD1(NM_003611.3):c.2060C>T (p.P687L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000728487"	"0"	"50"	"X"	"13787218"	"13787218"	"subst"	"2.81256E-5"	"01943"	"OFD1_000118"	"g.13787218C>G"	""	""	""	"OFD1(NM_001330210.1):c.2610C>G (p.D870E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000730039"	"1"	"90"	"X"	"13773333"	"13773336"	"del"	"0"	"00000"	"OFD1_000053"	"g.13773333_13773336del"	""	"{PMID:Maddirevula 2018:29620724}"	""	"NM_003611.2:c.1193_1196delAATC:p.(Gln398Leufs*2)"	""	"Germline"	""	""	"0"	""	""	"g.13755214_13755217del"	""	"pathogenic (dominant)"	""
"0000736843"	"0"	"50"	"X"	"13780542"	"13780544"	"del"	"0"	"00000"	"OFD1_000119"	"g.13780542_13780544del"	"1/486 individuals"	"{PMID:Sergouniotis 2016:27628848}"	""	""	"no genotypes reported"	"Germline"	""	"rs771984968"	"0"	""	""	"g.13762423_13762425del"	""	"VUS"	""
"0000759757"	"0"	"90"	"X"	"13764461"	"13764463"	"del"	"0"	"00000"	"OFD1_000120"	"g.13764461_13764463del"	""	"{PMID:Suzuki 2016:27434533}"	""	"c.537_539del"	""	"De novo"	""	""	"0"	""	""	"g.13746342_13746344del"	""	"pathogenic"	""
"0000759766"	"21"	"90"	"X"	"13785278"	"13785281"	"del"	"0"	"00000"	"OFD1_000121"	"g.13785278_13785281del"	""	"{PMID:Suzuki 2016:27434533}"	""	"c.2629_2632del"	""	"Germline"	""	""	"0"	""	""	"g.13767159_13767162del"	""	"pathogenic"	""
"0000765704"	"21"	"90"	"X"	"13767637"	"13767637"	"subst"	"0"	"00000"	"OFD1_000122"	"g.13767637T>A"	""	"{PMID:Srour 2015:26477546}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13749518T>A"	""	"pathogenic"	""
"0000783511"	"3"	"90"	"X"	"13786182"	"13786182"	"del"	"0"	"00000"	"OFD1_000127"	"g.13786182del"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_003611.2:c.2767delG"	""	"Germline"	""	""	"0"	""	""	"g.13768063del"	""	"pathogenic"	""
"0000783512"	"3"	"90"	"X"	"13754762"	"13754762"	"subst"	"0"	"00000"	"OFD1_000124"	"g.13754762G>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_003611.2:c.277G>T"	""	"Germline"	""	""	"0"	""	""	"g.13736643G>T"	""	"pathogenic"	""
"0000783513"	"3"	"90"	"X"	"13754762"	"13754762"	"subst"	"0"	"00000"	"OFD1_000124"	"g.13754762G>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_003611.2:c.277G>T"	""	"Germline"	""	""	"0"	""	""	"g.13736643G>T"	""	"pathogenic"	""
"0000783514"	"3"	"90"	"X"	"13785314"	"13785314"	"subst"	"0"	"00000"	"OFD1_000126"	"g.13785314C>T"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_003611.2:c.2668C>T"	""	"Germline"	""	""	"0"	""	""	"g.13767195C>T"	""	"pathogenic"	""
"0000783515"	"3"	"90"	"X"	"13754634"	"13754634"	"subst"	"0"	"00000"	"OFD1_000123"	"g.13754634A>G"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_003611.2:c.149A>G"	""	"Germline"	""	""	"0"	""	""	"g.13736515A>G"	""	"pathogenic"	""
"0000783595"	"3"	"50"	"X"	"13769366"	"13769366"	"subst"	"0.000113117"	"00000"	"OFD1_000125"	"g.13769366A>G"	""	"{PMID:Bachmann-Gagescu 2015:26092869}"	""	"NM_003611.2:c.936-2A>G"	""	"Germline"	""	""	"0"	""	""	"g.13751247A>G"	""	"VUS"	""
"0000784478"	"0"	"50"	"X"	"13757043"	"13757043"	"subst"	"1.67989E-5"	"00000"	"OFD1_000128"	"g.13757043C>G"	"1/205 case chromosomes"	"{PMID:Xu 2014:24938718}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13738924C>G"	""	"VUS"	""
"0000791793"	"0"	"70"	"X"	"13785302"	"13785302"	"del"	"0"	"00000"	"OFD1_000129"	"g.13785302del"	""	"{PMID:Brooks 2018:30055837}"	""	"c.2656del; p.Q886Kfs*2"	""	"Germline"	"?"	""	"0"	""	""	"g.13767183del"	""	"likely pathogenic"	""
"0000791794"	"0"	"70"	"X"	"13754634"	"13754634"	"subst"	"0"	"00000"	"OFD1_000123"	"g.13754634A>G"	""	"{PMID:Brooks 2018:30055837}"	""	"c.149A>G; p.H50R"	""	"Germline"	"?"	""	"0"	""	""	"g.13736515A>G"	""	"likely pathogenic"	""
"0000793785"	"20"	"70"	"X"	"13778788"	"13778788"	"subst"	"3.94867E-5"	"00000"	"OFD1_000114"	"g.13778788A>G"	""	"{PMID:Zhou-2011:21677794}"	""	"c.2209A>G"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000809948"	"0"	"10"	"X"	"13734186"	"13734186"	"subst"	"3.58342E-5"	"01943"	"OFD1_000130"	"g.13734186A>G"	""	""	""	"TRAPPC2(NM_001011658.3):c.261T>C (p.H87=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000809949"	"0"	"30"	"X"	"13734687"	"13734687"	"subst"	"0.000336415"	"01943"	"OFD1_000131"	"g.13734687G>A"	""	""	""	"TRAPPC2(NM_001011658.3):c.204C>T (p.N68=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809950"	"0"	"30"	"X"	"13764487"	"13764487"	"subst"	"9.51986E-5"	"01943"	"OFD1_000132"	"g.13764487G>A"	""	""	""	"OFD1(NM_001330210.1):c.147G>A (p.Q49=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809951"	"0"	"30"	"X"	"13767651"	"13767651"	"subst"	"0"	"01943"	"OFD1_000133"	"g.13767651T>C"	""	""	""	"OFD1(NM_001330210.1):c.514T>C (p.L172=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809953"	"0"	"50"	"X"	"13774824"	"13774824"	"subst"	"0"	"02325"	"OFD1_000134"	"g.13774824A>G"	""	""	""	"OFD1(NM_003611.3):c.1349A>G (p.Q450R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000809954"	"0"	"10"	"X"	"13778273"	"13778273"	"subst"	"0.00119703"	"02330"	"OFD1_000025"	"g.13778273T>C"	""	""	""	"OFD1(NM_001330210.1):c.1274T>C (p.V425A), OFD1(NM_001330210.2):c.1274T>C (p.V425A), OFD1(NM_003611.3):c.1694T>C (p.V565A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000809955"	"0"	"30"	"X"	"13778631"	"13778631"	"subst"	"0.00166022"	"02326"	"OFD1_000135"	"g.13778631C>G"	""	""	""	"OFD1(NM_001330210.2):c.1632C>G (p.S544=), OFD1(NM_003611.3):c.2052C>G (p.S684=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809956"	"0"	"30"	"X"	"13778772"	"13778772"	"subst"	"1.12672E-5"	"01943"	"OFD1_000136"	"g.13778772C>T"	""	""	""	"OFD1(NM_001330210.1):c.1773C>T (p.S591=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809957"	"0"	"30"	"X"	"13778847"	"13778847"	"subst"	"0.000114415"	"01943"	"OFD1_000137"	"g.13778847A>G"	""	""	""	"OFD1(NM_001330210.1):c.1840+8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809958"	"0"	"30"	"X"	"13779248"	"13779248"	"subst"	"1.11867E-5"	"01943"	"OFD1_000138"	"g.13779248A>G"	""	""	""	"OFD1(NM_001330210.1):c.1885A>G (p.R629G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809959"	"0"	"30"	"X"	"13780473"	"13780473"	"subst"	"0.000151361"	"01943"	"OFD1_000139"	"g.13780473A>G"	""	""	""	"OFD1(NM_001330210.1):c.1978A>G (p.R660G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809961"	"0"	"50"	"X"	"13785240"	"13785243"	"dup"	"0"	"01943"	"OFD1_000140"	"g.13785240_13785243dup"	""	""	""	"OFD1(NM_001330210.1):c.2180-4_2180-1dupTTTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000809962"	"0"	"30"	"X"	"13785337"	"13785337"	"subst"	"0"	"01943"	"OFD1_000141"	"g.13785337G>T"	""	""	""	"OFD1(NM_001330210.1):c.2271G>T (p.R757S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809963"	"0"	"30"	"X"	"13786914"	"13786914"	"subst"	"5.5981E-6"	"01943"	"OFD1_000142"	"g.13786914T>C"	""	""	""	"OFD1(NM_001330210.1):c.2576+10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000809964"	"0"	"30"	"X"	"13786924"	"13786925"	"del"	"0"	"02326"	"OFD1_000042"	"g.13786924_13786925del"	""	""	""	"OFD1(NM_003611.3):c.2996+20_2996+21delAC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000816089"	"1"	"70"	"X"	"13777801"	"13777802"	"ins"	"0"	"00000"	"OFD1_000143"	"g.13777801_13777802ins[G;13758359_13777802]"	""	"{PMID:Zampaglione 2020:32037395}"	""	"chrX:13758359_13777802dup (ex6-16)"	"duplication of exons 6-15 (1242 coding bases, in frame)"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.13759682_13759683ins[G;13740240_13759683]"	""	"likely pathogenic"	""
"0000818295"	"20"	"90"	"X"	"13754634"	"13754634"	"subst"	"0"	"00000"	"OFD1_000123"	"g.13754634A>G"	""	"{PMID:Summers 2017:28497568}"	""	"c.149A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000827571"	"20"	"90"	"X"	"13764980"	"13764980"	"subst"	"0"	"00000"	"OFD1_000144"	"g.13764980C>T"	""	"{PMID:Colombo-2020:33576794}"	""	"c.736C>T"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000827836"	"0"	"90"	"X"	"13757139"	"13757142"	"del"	"0"	"00000"	"OFD1_000045"	"g.13757139_13757142del"	""	"{PMID:Zacchia 2021:33964006}"	""	"OFD1 c.397_400delAAAG, E134Ifs*10"	"c.397_400delAAAG automapped to c.400_403del, hemizygous; solved"	"Unknown"	"?"	""	"0"	""	""	"g.13739020_13739023del"	""	"pathogenic"	"ACMG"
"0000830140"	"0"	"70"	"X"	"13764954"	"13764954"	"dup"	"0"	"04116"	"OFD1_000145"	"g.13764954dup"	""	""	""	"702dup"	""	"Somatic"	""	""	"0"	""	""	"g.13746835dup"	""	"VUS"	""
"0000830141"	"0"	"70"	"X"	"13773333"	"13773336"	"del"	"0"	"04116"	"OFD1_000053"	"g.13773333_13773336del"	""	""	""	"delTCAA"	""	"Somatic"	""	""	"0"	""	""	"g.13755214_13755217del"	""	"VUS"	""
"0000830142"	"0"	"70"	"X"	"13764954"	"13764954"	"del"	"0"	"04116"	"OFD1_000004"	"g.13764954del"	""	""	""	"702delA"	""	"Somatic"	""	""	"0"	""	""	"g.13746835del"	""	"VUS"	""
"0000830143"	"0"	"70"	"X"	"13764954"	"13764954"	"del"	"0"	"04116"	"OFD1_000146"	"g.13764954del"	""	""	""	"702delA"	""	"Somatic"	""	""	"0"	""	""	"g.13746835del"	""	"VUS"	""
"0000842839"	"21"	"70"	"X"	"13768358"	"13768358"	"subst"	"0"	"00000"	"OFD1_000148"	"g.13768358A>G"	"0/220 control chromosomes Spanish population"	"{PMID:Webb-2012:22619378}"	""	"IVS9+706A>G"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000842840"	"21"	"70"	"X"	"0"	"0"	"ins"	"0"	"00000"	"OFD1_000147"	"g.?"	"0/220 control chromosomes Spanish population"	"{PMID:Webb-2012:22619378}"	""	"insertion of a cryptic exon between 9 and 10 (exon X) (p.N313fs.X330)"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000842841"	"21"	"70"	"X"	"13786861"	"13786861"	"subst"	"2.79806E-5"	"00000"	"OFD1_000149"	"g.13786861G>A"	""	"{PMID:Wang-2017:28191358}"	""	"p.G985S mutation (c.G2953A)"	""	"Germline"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000856371"	"0"	"50"	"X"	"13753428"	"13753428"	"subst"	"5.59247E-6"	"02325"	"OFD1_000115"	"g.13753428A>G"	""	""	""	"OFD1(NM_003611.2):c.74A>G (p.Q25R), OFD1(NM_003611.3):c.74A>G (p.Q25R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856372"	"0"	"50"	"X"	"13776534"	"13776534"	"subst"	"0"	"01943"	"OFD1_000152"	"g.13776534G>A"	""	""	""	"OFD1(NM_001330210.1):c.1201G>A (p.D401N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000856373"	"0"	"30"	"X"	"13776581"	"13776581"	"subst"	"0.000376803"	"02326"	"OFD1_000153"	"g.13776581T>A"	""	""	""	"OFD1(NM_003611.3):c.1654+14T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000856375"	"0"	"10"	"X"	"13778612"	"13778612"	"subst"	"0.000635669"	"02326"	"OFD1_000091"	"g.13778612C>G"	""	""	""	"OFD1(NM_001330210.1):c.1613C>G (p.A538G), OFD1(NM_001330210.2):c.1613C>G (p.A538G), OFD1(NM_003611.3):c.2033C>G (p.A678G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000856376"	"0"	"10"	"X"	"13785256"	"13785256"	"subst"	"0"	"02325"	"OFD1_000156"	"g.13785256G>C"	""	""	""	"OFD1(NM_003611.3):c.2610G>C (p.Q870H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000856377"	"0"	"10"	"X"	"13785266"	"13785266"	"subst"	"0"	"02325"	"OFD1_000157"	"g.13785266G>C"	""	""	""	"OFD1(NM_003611.3):c.2620G>C (p.E874Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000856378"	"0"	"10"	"X"	"13785269"	"13785269"	"subst"	"0"	"02325"	"OFD1_000158"	"g.13785269G>A"	""	""	""	"OFD1(NM_003611.3):c.2623G>A (p.E875K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000856379"	"0"	"10"	"X"	"13785278"	"13785278"	"subst"	"0"	"02325"	"OFD1_000159"	"g.13785278G>A"	""	""	""	"OFD1(NM_003611.3):c.2632G>A (p.E878K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000856380"	"0"	"10"	"X"	"13785281"	"13785281"	"subst"	"0"	"02325"	"OFD1_000160"	"g.13785281G>A"	""	""	""	"OFD1(NM_003611.3):c.2635G>A (p.E879K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000856381"	"0"	"10"	"X"	"13785284"	"13785284"	"subst"	"0"	"02325"	"OFD1_000161"	"g.13785284G>A"	""	""	""	"OFD1(NM_003611.3):c.2638G>A (p.E880K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000867082"	"0"	"30"	"X"	"13757121"	"13757121"	"subst"	"0"	"01943"	"OFD1_000150"	"g.13757121G>A"	""	""	""	"OFD1(NM_003611.2):c.382G>A (p.V128I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867083"	"0"	"30"	"X"	"13769452"	"13769452"	"subst"	"0.00163061"	"02330"	"OFD1_000151"	"g.13769452G>A"	""	""	""	"OFD1(NM_001330210.2):c.600G>A (p.E200=), OFD1(NM_003611.3):c.1020G>A (p.E340=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867084"	"0"	"30"	"X"	"13776576"	"13776576"	"subst"	"0.000522721"	"02330"	"OFD1_000108"	"g.13776576C>T"	""	""	""	"OFD1(NM_001330210.2):c.1234+9C>T, OFD1(NM_003611.3):c.1654+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867085"	"0"	"30"	"X"	"13778604"	"13778604"	"subst"	"2.11448E-5"	"01943"	"OFD1_000155"	"g.13778604G>T"	""	""	""	"OFD1(NM_001330210.1):c.1605G>T (p.L535F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867086"	"0"	"10"	"X"	"13778631"	"13778631"	"subst"	"0.00166022"	"02330"	"OFD1_000135"	"g.13778631C>G"	""	""	""	"OFD1(NM_001330210.2):c.1632C>G (p.S544=), OFD1(NM_003611.3):c.2052C>G (p.S684=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000867087"	"0"	"30"	"X"	"13778851"	"13778851"	"subst"	"0.000137553"	"02326"	"OFD1_000034"	"g.13778851G>A"	""	""	""	"OFD1(NM_003611.3):c.2260+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867088"	"0"	"30"	"X"	"13785407"	"13785407"	"dup"	"0"	"01943"	"OFD1_000162"	"g.13785407dup"	""	""	""	"OFD1(NM_001330210.1):c.2337+4dupA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000867089"	"0"	"30"	"X"	"13791089"	"13791089"	"subst"	"3.3761E-5"	"01943"	"OFD1_000163"	"g.13791089G>C"	""	""	""	"GPM6B(NM_001001995.3):c.898C>G (p.Q300E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000880875"	"21"	"70"	"X"	"13777400"	"13782397"	"del"	"0"	"00000"	"OFD1_000165"	"g.13777400_13782397del"	""	"{PMID:Sharma 2016:27651963}"	""	"deletion of approximately 7.9 kb, in the OFD1 gene encompassing exons 16, 17, and 19"	"hemizygous"	"Germline"	"yes"	""	"0"	""	""	"g.13759281_13764278del"	""	"likely pathogenic"	""
"0000880877"	"21"	"70"	"X"	"13779331"	"13779331"	"subst"	"0"	"00000"	"OFD1_000164"	"g.13779331G>C"	""	"{PMID:Tsurusaki 2012:22548404}"	""	"OFD1 c.2388+1G>C"	"error in annotation, should be c.2387+1G>C; hemizygous"	"Germline"	"yes"	""	"0"	""	""	"g.13761212G>C"	""	"likely pathogenic"	""
"0000880878"	"10"	"70"	"X"	"13779331"	"13779331"	"subst"	"0"	"00000"	"OFD1_000164"	"g.13779331G>C"	""	"{PMID:Tsurusaki 2012:22548404}"	""	"OFD1 c.2388+1G>C"	"error in annotation, should be c.2387+1G>C; heterozygous"	"Germline"	"yes"	""	"0"	""	""	"g.13761212G>C"	""	"likely pathogenic"	""
"0000895950"	"0"	"30"	"X"	"13752240"	"13752240"	"subst"	"0.000399118"	"02327"	"OFD1_000009"	"g.13752240C>T"	""	""	""	"TRAPPC2(NM_001128835.2):c.12G>A (p.W4*), TRAPPC2(NM_001128835.3):c.12G>A (p.(Trp4Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895951"	"0"	"30"	"X"	"13764958"	"13764958"	"subst"	"0.00158766"	"02326"	"OFD1_000002"	"g.13764958T>C"	""	""	""	"OFD1(NM_001330210.1):c.294T>C (p.Y98=), OFD1(NM_003611.3):c.714T>C (p.Y238=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895952"	"0"	"30"	"X"	"13769452"	"13769452"	"subst"	"0.00163061"	"02326"	"OFD1_000151"	"g.13769452G>A"	""	""	""	"OFD1(NM_001330210.2):c.600G>A (p.E200=), OFD1(NM_003611.3):c.1020G>A (p.E340=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000895953"	"0"	"10"	"X"	"13774739"	"13774739"	"subst"	"0.00162205"	"02326"	"OFD1_000021"	"g.13774739A>G"	""	""	""	"OFD1(NM_003611.2):c.1264A>G (p.K422E), OFD1(NM_003611.3):c.1264A>G (p.K422E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000895954"	"0"	"50"	"X"	"13778747"	"13778747"	"subst"	"3.37992E-5"	"02325"	"OFD1_000166"	"g.13778747C>T"	""	""	""	"OFD1(NM_003611.3):c.2168C>T (p.S723L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000895955"	"0"	"50"	"X"	"13785245"	"13785245"	"subst"	"5.60862E-6"	"02327"	"OFD1_000167"	"g.13785245G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000931345"	"0"	"30"	"X"	"13773322"	"13773324"	"del"	"0"	"02326"	"OFD1_000052"	"g.13773322_13773324del"	""	""	""	"OFD1(NM_003611.3):c.1182_1184delGGA (p.E395del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000939898"	"0"	"70"	"X"	"13752240"	"13752240"	"subst"	"0.000399118"	"00006"	"OFD1_000009"	"g.13752240C>T"	""	"{PMID:Nambot 2018:29095811}"	""	"NM_001128835.2:c.12G>A"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.13734121C>T"	""	"likely pathogenic (recessive)"	""
"0000951689"	"0"	"30"	"X"	"13762616"	"13762616"	"subst"	"1.12286E-5"	"02330"	"OFD1_000168"	"g.13762616G>T"	""	""	""	"OFD1(NM_001330210.2):c.75G>T (p.S25=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000958466"	"0"	"50"	"X"	"13781950"	"13781950"	"subst"	"1.12007E-5"	"00006"	"OFD1_000169"	"g.13781950G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, BS2_SUPPORTING"	"Germline"	""	""	"0"	""	""	"g.13763831G>A"	""	"VUS"	"ACMG"
"0000970794"	"0"	"50"	"X"	"13738066"	"13738066"	"subst"	"1.948E-5"	"02327"	"OFD1_000170"	"g.13738066T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000970799"	"0"	"30"	"X"	"13778612"	"13778612"	"subst"	"0.000635669"	"02330"	"OFD1_000091"	"g.13778612C>G"	""	""	""	"OFD1(NM_001330210.1):c.1613C>G (p.A538G), OFD1(NM_001330210.2):c.1613C>G (p.A538G), OFD1(NM_003611.3):c.2033C>G (p.A678G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000972435"	"0"	"90"	"X"	"13762629"	"13762630"	"del"	"0"	"00006"	"OFD1_000171"	"g.13762629_13762630del"	""	"{PMID:Fujimaru 2018:29520754}"	""	"505_506delAG"	"De novo"	"De novo"	""	""	"0"	""	""	"g.13744510_13744511del"	""	"pathogenic"	""
"0000984478"	"0"	"50"	"X"	"13778822"	"13778822"	"subst"	"0"	"01804"	"OFD1_000033"	"g.13778822G>A"	""	""	""	"OFD1(NM_003611.3):c.2243G>A (p.(Ser748Asn), p.S748N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001006468"	"0"	"30"	"X"	"13764463"	"13764463"	"subst"	"0"	"01804"	"OFD1_000172"	"g.13764463T>A"	""	""	""	"OFD1(NM_003611.2):c.543T>A (p.(Asp181Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001027444"	"0"	"90"	"X"	"13732567"	"13732567"	"subst"	"0"	"02327"	"OFD1_000173"	"g.13732567T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001027693"	"0"	"70"	"X"	"13786342"	"13786342"	"subst"	"5.6072E-6"	"00006"	"OFD1_000174"	"g.13786342A>C"	""	"{PMID:Alsamri 2021:34768622}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.13768223A>C"	""	"VUS"	""
"0001030880"	"0"	"90"	"X"	"13764930"	"13764933"	"del"	"0"	"03779"	"OFD1_000175"	"g.13764930_13764933del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001044127"	"0"	"50"	"X"	"13754791"	"13754791"	"subst"	"0"	"01804"	"OFD1_000176"	"g.13754791A>T"	""	""	""	"OFD1(NM_003611.3):c.306A>T (p.(Lys102Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044128"	"0"	"50"	"X"	"13756995"	"13756995"	"subst"	"0"	"01804"	"OFD1_000177"	"g.13756995A>G"	""	""	""	"OFD1(NM_003611.3):c.343A>G (p.(Ile115Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044129"	"0"	"30"	"X"	"13774702"	"13774702"	"subst"	"0"	"01804"	"OFD1_000178"	"g.13774702A>G"	""	""	""	"OFD1(NM_003611.3):c.1227A>G (p.(Glu409=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001044130"	"0"	"30"	"X"	"13778321"	"13778321"	"subst"	"3.91512E-5"	"01804"	"OFD1_000026"	"g.13778321G>A"	""	""	""	"OFD1(NM_003611.3):c.1742G>A (p.(Cys581Tyr), p.C581Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001044131"	"0"	"50"	"X"	"13779294"	"13779308"	"dup"	"0"	"01804"	"OFD1_000179"	"g.13779294_13779308dup"	""	""	""	"OFD1(NM_003611.3):c.2351_2365dup (p.(Ile784_Ser788dup))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001044132"	"0"	"50"	"X"	"13786252"	"13786252"	"subst"	"0"	"01804"	"OFD1_000180"	"g.13786252A>C"	""	""	""	"OFD1(NM_003611.3):c.2837A>C (p.(Glu946Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001057270"	"0"	"50"	"X"	"13754690"	"13754690"	"subst"	"0"	"01804"	"OFD1_000181"	"g.13754690C>G"	""	""	""	"OFD1(NM_003611.3):c.205C>G (p.(Leu69Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001057271"	"0"	"30"	"X"	"13757161"	"13757161"	"subst"	"1.1597E-5"	"01804"	"OFD1_000182"	"g.13757161G>C"	""	""	""	"OFD1(NM_003611.3):c.412+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001057272"	"0"	"50"	"X"	"13773314"	"13773314"	"subst"	"0"	"01804"	"OFD1_000183"	"g.13773314A>G"	""	""	""	"OFD1(NM_003611.3):c.1174A>G (p.(Lys392Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001057273"	"0"	"50"	"X"	"13775865"	"13775865"	"subst"	"0"	"01804"	"OFD1_000184"	"g.13775865T>C"	""	""	""	"OFD1(NM_003611.3):c.1498T>C (p.(Phe500Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001057274"	"0"	"50"	"X"	"13778833"	"13778833"	"subst"	"0"	"01804"	"OFD1_000185"	"g.13778833C>A"	""	""	""	"OFD1(NM_003611.3):c.2254C>A (p.(Leu752Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001057275"	"0"	"30"	"X"	"13779338"	"13779338"	"dup"	"0"	"01804"	"OFD1_000186"	"g.13779338dup"	""	""	""	"OFD1(NM_003611.3):c.2387+8dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001057276"	"0"	"50"	"X"	"13786759"	"13786759"	"subst"	"0"	"01804"	"OFD1_000187"	"g.13786759C>T"	""	""	""	"OFD1(NM_003611.3):c.2929-78C>T"	"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 OFD1
## Count = 242
"{{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}}"
"0000001318"	"00000012"	"70"	"710"	"0"	"710"	"0"	"c.710del"	"r.(?)"	"p.(Lys237Serfs*6)"	"8"
"0000002793"	"00000012"	"30"	"1412"	"-27"	"1412"	"-27"	"c.1412-27del"	"r.(=)"	"p.(=)"	"13i"
"0000008405"	"00000012"	"30"	"1056"	"-923"	"1056"	"-923"	"c.1056-923T>C"	"r.(=)"	"p.(=)"	"10i"
"0000008406"	"00000012"	"30"	"1412"	"-11"	"1412"	"-11"	"c.1412-11dup"	"r.(=)"	"p.(=)"	"13i"
"0000010799"	"00000012"	"30"	"1412"	"-27"	"1412"	"-27"	"c.1412-27del"	"r.(=)"	"p.(=)"	"13i"
"0000052287"	"00000012"	"70"	"872"	"0"	"877"	"0"	"c.872_877del"	"r.(?)"	"p.(Lys291_Asp292del)"	"9"
"0000052392"	"00000012"	"50"	"535"	"0"	"535"	"0"	"c.535A>T"	"r.(?)"	"p.(Ile179Phe)"	"7"
"0000052393"	"00000012"	"30"	"714"	"0"	"714"	"0"	"c.714T>C"	"r.(=)"	"p.(Tyr238)"	"8"
"0000247724"	"00000012"	"10"	"2663"	"0"	"2663"	"0"	"c.2663A>C"	"r.(?)"	"p.(Lys888Thr)"	""
"0000247991"	"00000012"	"10"	"1264"	"0"	"1264"	"0"	"c.1264A>G"	"r.(?)"	"p.(Lys422Glu)"	""
"0000248029"	"00000012"	"10"	"1129"	"16"	"1129"	"16"	"c.1129+16A>G"	"r.(=)"	"p.(=)"	""
"0000251668"	"00000012"	"10"	"1055"	"108"	"1055"	"108"	"c.1055+108A>G"	"r.(=)"	"p.(=)"	""
"0000251669"	"00000012"	"10"	"2758"	"-53"	"2758"	"-53"	"c.2758-53A>C"	"r.(=)"	"p.(=)"	""
"0000251897"	"00000012"	"30"	"1294"	"0"	"1294"	"0"	"c.1294A>G"	"r.(?)"	"p.(Lys432Glu)"	""
"0000252527"	"00000012"	"90"	"710"	"0"	"710"	"0"	"c.710del"	"r.(?)"	"p.(Lys237SerfsTer6)"	""
"0000253252"	"00000012"	"10"	"1264"	"0"	"1264"	"0"	"c.1264A>G"	"r.(?)"	"p.(Lys422Glu)"	""
"0000253290"	"00000012"	"10"	"1129"	"16"	"1129"	"16"	"c.1129+16A>G"	"r.(=)"	"p.(=)"	""
"0000253376"	"00000012"	"10"	"2663"	"0"	"2663"	"0"	"c.2663A>C"	"r.(?)"	"p.(Lys888Thr)"	""
"0000256153"	"00000012"	"50"	"1128"	"0"	"1128"	"0"	"c.1128A>C"	"r.(?)"	"p.(Lys376Asn)"	""
"0000256199"	"00000012"	"50"	"2938"	"0"	"2938"	"0"	"c.2938A>C"	"r.(?)"	"p.(Lys980Gln)"	""
"0000293365"	"00000012"	"10"	"1923"	"0"	"1923"	"0"	"c.1923G>A"	"r.(?)"	"p.(Glu641=)"	""
"0000293366"	"00000012"	"10"	"2996"	"20"	"2996"	"21"	"c.2996+20_2996+21del"	"r.(=)"	"p.(=)"	""
"0000293367"	"00000012"	"10"	"470"	"0"	"470"	"0"	"c.470G>A"	"r.(?)"	"p.(Cys157Tyr)"	""
"0000296673"	"00000012"	"30"	"1742"	"0"	"1742"	"0"	"c.1742G>A"	"r.(?)"	"p.(Cys581Tyr)"	""
"0000296674"	"00000012"	"30"	"1923"	"0"	"1923"	"0"	"c.1923G>A"	"r.(?)"	"p.(Glu641=)"	""
"0000296675"	"00000012"	"30"	"2260"	"12"	"2260"	"12"	"c.2260+12G>A"	"r.(=)"	"p.(=)"	""
"0000300512"	"00000012"	"10"	"1056"	"-643"	"1056"	"-643"	"c.1056-643C>T"	"r.(=)"	"p.(=)"	""
"0000300513"	"00000012"	"10"	"112"	"-63"	"112"	"-63"	"c.112-63C>T"	"r.(=)"	"p.(=)"	""
"0000300514"	"00000012"	"30"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Val565Ala)"	""
"0000300515"	"00000012"	"30"	"1923"	"0"	"1923"	"0"	"c.1923G>A"	"r.(?)"	"p.(Glu641=)"	""
"0000300516"	"00000012"	"30"	"2060"	"0"	"2060"	"0"	"c.2060C>T"	"r.(?)"	"p.(Pro687Leu)"	""
"0000300517"	"00000012"	"30"	"2202"	"0"	"2202"	"0"	"c.2202C>G"	"r.(?)"	"p.(Leu734=)"	""
"0000300518"	"00000012"	"30"	"2243"	"0"	"2243"	"0"	"c.2243G>A"	"r.(?)"	"p.(Ser748Asn)"	""
"0000300519"	"00000012"	"30"	"2387"	"11"	"2387"	"11"	"c.2387+11C>T"	"r.(=)"	"p.(=)"	""
"0000300520"	"00000012"	"10"	"2387"	"91"	"2387"	"91"	"c.2387+91del"	"r.(=)"	"p.(=)"	""
"0000300521"	"00000012"	"30"	"2928"	"13"	"2928"	"13"	"c.2928+13T>C"	"r.(=)"	"p.(=)"	""
"0000304766"	"00000012"	"30"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Val565Ala)"	""
"0000304767"	"00000012"	"30"	"1923"	"0"	"1923"	"0"	"c.1923G>A"	"r.(?)"	"p.(Glu641=)"	""
"0000304768"	"00000012"	"10"	"2052"	"0"	"2052"	"0"	"c.2052C>T"	"r.(?)"	"p.(Ser684=)"	""
"0000304769"	"00000012"	"30"	"2136"	"0"	"2136"	"0"	"c.2136C>T"	"r.(?)"	"p.(Asp712=)"	""
"0000304770"	"00000012"	"10"	"2387"	"11"	"2387"	"11"	"c.2387+11C>T"	"r.(=)"	"p.(=)"	""
"0000304771"	"00000012"	"50"	"982"	"0"	"982"	"0"	"c.982C>T"	"r.(?)"	"p.(Leu328Phe)"	""
"0000317011"	"00000012"	"30"	"-951"	"0"	"-951"	"0"	"c.-951C>T"	"r.(?)"	"p.(=)"	""
"0000333198"	"00000012"	"50"	"-951"	"0"	"-951"	"0"	"c.-951C>T"	"r.(?)"	"p.(=)"	""
"0000333199"	"00000012"	"50"	"-885"	"0"	"-882"	"0"	"c.-885_-882del"	"r.(?)"	"p.(=)"	""
"0000333200"	"00000012"	"50"	"164"	"0"	"164"	"0"	"c.164G>T"	"r.(?)"	"p.(Gly55Val)"	""
"0000333201"	"00000012"	"50"	"517"	"8"	"517"	"8"	"c.517+8T>C"	"r.(=)"	"p.(=)"	""
"0000333202"	"00000012"	"50"	"1294"	"0"	"1294"	"0"	"c.1294A>G"	"r.(?)"	"p.(Lys432Glu)"	""
"0000333203"	"00000012"	"30"	"1412"	"-8"	"1412"	"-8"	"c.1412-8C>T"	"r.(=)"	"p.(=)"	""
"0000333204"	"00000012"	"30"	"1412"	"-5"	"1412"	"-5"	"c.1412-5C>T"	"r.spl?"	"p.?"	""
"0000333205"	"00000012"	"50"	"1990"	"0"	"1990"	"0"	"c.1990C>A"	"r.(?)"	"p.(Pro664Thr)"	""
"0000333206"	"00000012"	"50"	"2372"	"0"	"2372"	"0"	"c.2372C>T"	"r.(?)"	"p.(Pro791Leu)"	""
"0000333207"	"00000012"	"50"	"2663"	"0"	"2663"	"0"	"c.2663A>C"	"r.(?)"	"p.(Lys888Thr)"	""
"0000337185"	"00000012"	"90"	"-15206"	"0"	"-15206"	"0"	"c.-15206C>T"	"r.(?)"	"p.(=)"	""
"0000342152"	"00000012"	"30"	"568"	"0"	"568"	"0"	"c.568C>T"	"r.(?)"	"p.(Arg190Cys)"	""
"0000342744"	"00000012"	"90"	"1099"	"0"	"1099"	"0"	"c.1099C>T"	"r.(?)"	"p.(Arg367Ter)"	""
"0000344216"	"00000012"	"50"	"2966"	"0"	"2966"	"0"	"c.2966A>T"	"r.(?)"	"p.(Asp989Val)"	""
"0000345005"	"00000012"	"90"	"-19015"	"0"	"-19015"	"0"	"c.-19015G>A"	"r.(?)"	"p.(=)"	""
"0000347821"	"00000012"	"70"	"-15110"	"0"	"-15110"	"0"	"c.-15110A>G"	"r.(?)"	"p.(=)"	""
"0000348681"	"00000012"	"90"	"363"	"0"	"363"	"0"	"c.363dup"	"r.(?)"	"p.(Ser122GlnfsTer11)"	""
"0000348762"	"00000012"	"50"	"491"	"0"	"491"	"0"	"c.491G>A"	"r.(?)"	"p.(Ser164Asn)"	""
"0000350057"	"00000012"	"70"	"1081"	"0"	"1081"	"0"	"c.1081T>C"	"r.(?)"	"p.(Tyr361His)"	""
"0000350210"	"00000012"	"70"	"260"	"0"	"260"	"0"	"c.260A>G"	"r.(?)"	"p.(Tyr87Cys)"	""
"0000350905"	"00000012"	"10"	"1129"	"16"	"1129"	"16"	"c.1129+16A>G"	"r.(=)"	"p.(=)"	""
"0000434681"	"00000012"	"70"	"242"	"0"	"242"	"0"	"c.242A>T"	"r.(?)"	"p.(His81Leu)"	""
"0000477341"	"00000012"	"50"	"1703"	"0"	"1703"	"0"	"c.1703G>A"	"r.(?)"	"p.(Arg568His)"	""
"0000477342"	"00000012"	"50"	"1930"	"0"	"1930"	"0"	"c.1930C>T"	"r.(?)"	"p.(Arg644Cys)"	""
"0000477343"	"00000012"	"50"	"2117"	"0"	"2117"	"0"	"c.2117C>T"	"r.(?)"	"p.(Thr706Ile)"	""
"0000477344"	"00000012"	"50"	"2372"	"0"	"2372"	"0"	"c.2372C>T"	"r.(?)"	"p.(Pro791Leu)"	""
"0000477345"	"00000012"	"50"	"2524"	"0"	"2524"	"0"	"c.2524G>A"	"r.(?)"	"p.(Gly842Arg)"	""
"0000477346"	"00000012"	"90"	"2600"	"-6"	"2600"	"-6"	"c.2600-6del"	"r.(=)"	"p.(=)"	""
"0000477607"	"00000012"	"50"	"2372"	"0"	"2372"	"0"	"c.2372C>T"	"r.(?)"	"p.(Pro791Leu)"	""
"0000477608"	"00000012"	"50"	"2524"	"0"	"2524"	"0"	"c.2524G>A"	"r.(?)"	"p.(Gly842Arg)"	""
"0000573831"	"00000012"	"90"	"-20606"	"0"	"-20606"	"0"	"c.-20606G>A"	"r.(?)"	"p.(=)"	""
"0000573832"	"00000012"	"50"	"-18543"	"0"	"-18543"	"0"	"c.-18543G>A"	"r.(?)"	"p.(=)"	""
"0000573833"	"00000012"	"30"	"-18411"	"0"	"-18411"	"0"	"c.-18411C>T"	"r.(?)"	"p.(=)"	""
"0000573834"	"00000012"	"50"	"-15109"	"0"	"-15109"	"0"	"c.-15109T>C"	"r.(?)"	"p.(=)"	""
"0000573835"	"00000012"	"30"	"13"	"-3"	"13"	"-3"	"c.13-3T>C"	"r.spl?"	"p.?"	""
"0000573837"	"00000012"	"90"	"172"	"0"	"172"	"0"	"c.172C>T"	"r.(?)"	"p.(Gln58Ter)"	""
"0000573838"	"00000012"	"30"	"313"	"-7"	"313"	"-7"	"c.313-7dup"	"r.(=)"	"p.(=)"	""
"0000573839"	"00000012"	"30"	"313"	"0"	"313"	"0"	"c.313G>A"	"r.(?)"	"p.(Val105Ile)"	""
"0000573840"	"00000012"	"30"	"517"	"20"	"517"	"20"	"c.517+20T>C"	"r.(=)"	"p.(=)"	""
"0000573841"	"00000012"	"10"	"714"	"0"	"714"	"0"	"c.714T>C"	"r.(?)"	"p.(Tyr238=)"	""
"0000573842"	"00000012"	"30"	"714"	"0"	"714"	"0"	"c.714T>C"	"r.(?)"	"p.(Tyr238=)"	""
"0000573843"	"00000012"	"30"	"781"	"0"	"781"	"0"	"c.781G>A"	"r.(?)"	"p.(Val261Ile)"	""
"0000573845"	"00000012"	"50"	"1030"	"0"	"1030"	"0"	"c.1030C>T"	"r.(?)"	"p.(Arg344Ter)"	""
"0000573846"	"00000012"	"50"	"1046"	"0"	"1046"	"0"	"c.1046A>G"	"r.(?)"	"p.(Glu349Gly)"	""
"0000573848"	"00000012"	"50"	"1100"	"0"	"1100"	"0"	"c.1100G>A"	"r.(?)"	"p.(Arg367Gln)"	""
"0000573849"	"00000012"	"30"	"1111"	"0"	"1111"	"0"	"c.1111G>A"	"r.(?)"	"p.(Asp371Asn)"	""
"0000573850"	"00000012"	"30"	"1129"	"8"	"1129"	"8"	"c.1129+8T>A"	"r.(=)"	"p.(=)"	""
"0000573854"	"00000012"	"30"	"1412"	"-10"	"1412"	"-10"	"c.1412-10A>T"	"r.(=)"	"p.(=)"	""
"0000573855"	"00000012"	"30"	"1412"	"-10"	"1412"	"-8"	"c.1412-10_1412-8del"	"r.(=)"	"p.(=)"	""
"0000573856"	"00000012"	"30"	"1412"	"-9"	"1412"	"-9"	"c.1412-9C>T"	"r.(=)"	"p.(=)"	""
"0000573857"	"00000012"	"30"	"1412"	"-8"	"1412"	"-8"	"c.1412-8C>T"	"r.(=)"	"p.(=)"	""
"0000573858"	"00000012"	"30"	"1412"	"-5"	"1412"	"-5"	"c.1412-5C>T"	"r.spl?"	"p.?"	""
"0000573859"	"00000012"	"10"	"1654"	"8"	"1654"	"8"	"c.1654+8A>G"	"r.(=)"	"p.(=)"	""
"0000573860"	"00000012"	"30"	"1684"	"0"	"1684"	"0"	"c.1684A>C"	"r.(?)"	"p.(Lys562Gln)"	""
"0000573861"	"00000012"	"30"	"1743"	"0"	"1743"	"0"	"c.1743C>G"	"r.(?)"	"p.(Cys581Trp)"	""
"0000573862"	"00000012"	"50"	"1795"	"0"	"1795"	"0"	"c.1795G>A"	"r.(?)"	"p.(Val599Ile)"	""
"0000573863"	"00000012"	"30"	"1809"	"0"	"1809"	"0"	"c.1809G>T"	"r.(?)"	"p.(Met603Ile)"	""
"0000573864"	"00000012"	"30"	"1837"	"0"	"1837"	"0"	"c.1837A>G"	"r.(?)"	"p.(Thr613Ala)"	""
"0000573865"	"00000012"	"30"	"1961"	"0"	"1961"	"0"	"c.1961G>A"	"r.(?)"	"p.(Arg654Gln)"	""
"0000573867"	"00000012"	"30"	"2078"	"0"	"2078"	"0"	"c.2078G>A"	"r.(?)"	"p.(Gly693Glu)"	""
"0000573868"	"00000012"	"30"	"2078"	"0"	"2078"	"0"	"c.2078G>A"	"r.(?)"	"p.(Gly693Glu)"	""
"0000573869"	"00000012"	"30"	"2139"	"0"	"2139"	"0"	"c.2139C>T"	"r.(?)"	"p.(Val713=)"	""
"0000573870"	"00000012"	"50"	"2239"	"0"	"2239"	"0"	"c.2239G>A"	"r.(?)"	"p.(Glu747Lys)"	""
"0000573871"	"00000012"	"30"	"2239"	"0"	"2239"	"0"	"c.2239G>A"	"r.(?)"	"p.(Glu747Lys)"	""
"0000573872"	"00000012"	"10"	"2260"	"12"	"2260"	"12"	"c.2260+12G>A"	"r.(=)"	"p.(=)"	""
"0000573876"	"00000012"	"10"	"2387"	"91"	"2387"	"91"	"c.2387+91dup"	"r.(=)"	"p.(=)"	""
"0000573877"	"00000012"	"30"	"2388"	"-8"	"2388"	"-8"	"c.2388-8C>T"	"r.(=)"	"p.(=)"	""
"0000573878"	"00000012"	"30"	"2489"	"-11"	"2489"	"-11"	"c.2489-11G>A"	"r.(=)"	"p.(=)"	""
"0000573879"	"00000012"	"30"	"2524"	"0"	"2524"	"0"	"c.2524G>A"	"r.(?)"	"p.(Gly842Arg)"	""
"0000573880"	"00000012"	"10"	"2663"	"0"	"2663"	"0"	"c.2663A>C"	"r.(?)"	"p.(Lys888Thr)"	""
"0000573881"	"00000012"	"10"	"2929"	"-18"	"2929"	"-18"	"c.2929-18C>T"	"r.(=)"	"p.(=)"	""
"0000573882"	"00000012"	"10"	"2929"	"-18"	"2929"	"-18"	"c.2929-18C>T"	"r.(=)"	"p.(=)"	""
"0000573883"	"00000012"	"10"	"2929"	"-18"	"2929"	"-18"	"c.2929-18C>T"	"r.(=)"	"p.(=)"	""
"0000573884"	"00000012"	"10"	"2929"	"-18"	"2929"	"-18"	"c.2929-18C>T"	"r.(=)"	"p.(=)"	""
"0000573885"	"00000012"	"50"	"6890"	"0"	"6890"	"0"	"c.*3851C>G"	"r.(=)"	"p.(=)"	""
"0000604189"	"00000012"	"90"	"655"	"-2"	"655"	"-2"	"c.655-2A>T"	"r.(?)"	"p.(?)"	""
"0000619047"	"00000012"	"30"	"503"	"0"	"503"	"0"	"c.503A>T"	"r.(?)"	"p.(Asn168Ile)"	""
"0000619048"	"00000012"	"30"	"935"	"4"	"935"	"4"	"c.935+4A>G"	"r.spl?"	"p.?"	""
"0000619049"	"00000012"	"30"	"1703"	"0"	"1703"	"0"	"c.1703G>A"	"r.(?)"	"p.(Arg568His)"	""
"0000619050"	"00000012"	"10"	"2376"	"0"	"2376"	"0"	"c.2376G>A"	"r.(?)"	"p.(Glu792=)"	""
"0000624445"	"00000012"	"30"	"270"	"0"	"270"	"0"	"c.270A>C"	"r.(?)"	"p.(Ser90=)"	""
"0000624446"	"00000012"	"30"	"1654"	"8"	"1654"	"8"	"c.1654+8A>G"	"r.(=)"	"p.(=)"	""
"0000659104"	"00000012"	"30"	"54"	"0"	"54"	"0"	"c.54A>G"	"r.(?)"	"p.(Glu18=)"	""
"0000682129"	"00000012"	"30"	"-18534"	"0"	"-18534"	"0"	"c.-18534C>T"	"r.(?)"	"p.(=)"	""
"0000682130"	"00000012"	"30"	"1654"	"9"	"1654"	"9"	"c.1654+9C>T"	"r.(=)"	"p.(=)"	""
"0000682131"	"00000012"	"30"	"1699"	"0"	"1699"	"0"	"c.1699G>T"	"r.(?)"	"p.(Asp567Tyr)"	""
"0000682132"	"00000012"	"30"	"2078"	"0"	"2078"	"0"	"c.2078G>A"	"r.(?)"	"p.(Gly693Glu)"	""
"0000682133"	"00000012"	"30"	"2136"	"0"	"2136"	"0"	"c.2136C>T"	"r.(?)"	"p.(Asp712=)"	""
"0000683330"	"00000012"	"70"	"2644"	"0"	"2644"	"0"	"c.2644del"	"r.(?)"	"p.(Ile882Tyrfs*6)"	""
"0000685753"	"00000012"	"70"	"358"	"0"	"358"	"0"	"c.358A>G"	"r.(?)"	"p.(Thr120Ala)"	""
"0000693382"	"00000012"	"30"	"412"	"10"	"412"	"10"	"c.412+10G>A"	"r.(=)"	"p.(=)"	""
"0000693383"	"00000012"	"30"	"2033"	"0"	"2033"	"0"	"c.2033C>G"	"r.(?)"	"p.(Ala678Gly)"	""
"0000693384"	"00000012"	"30"	"2139"	"0"	"2139"	"0"	"c.2139C>T"	"r.(?)"	"p.(Val713=)"	""
"0000693385"	"00000012"	"30"	"2647"	"0"	"2647"	"0"	"c.2647C>T"	"r.(?)"	"p.(Arg883Trp)"	""
"0000713983"	"00000012"	"70"	"2209"	"0"	"2209"	"0"	"c.2209A>G"	"r.(?)"	"p.(Thr737Ala)"	""
"0000728477"	"00000012"	"30"	"74"	"0"	"74"	"0"	"c.74A>G"	"r.(?)"	"p.(Gln25Arg)"	""
"0000728478"	"00000012"	"30"	"517"	"20"	"517"	"20"	"c.517+20T>C"	"r.(=)"	"p.(=)"	""
"0000728479"	"00000012"	"90"	"710"	"0"	"710"	"0"	"c.710dup"	"r.(?)"	"p.(Tyr238ValfsTer2)"	""
"0000728480"	"00000012"	"30"	"858"	"0"	"858"	"0"	"c.858G>A"	"r.(?)"	"p.(Arg286=)"	""
"0000728481"	"00000012"	"50"	"1182"	"0"	"1184"	"0"	"c.1182_1184del"	"r.(?)"	"p.(Glu395del)"	""
"0000728482"	"00000012"	"30"	"1294"	"0"	"1294"	"0"	"c.1294A>G"	"r.(?)"	"p.(Lys432Glu)"	""
"0000728483"	"00000012"	"50"	"1363"	"0"	"1363"	"0"	"c.1363A>C"	"r.(?)"	"p.(Lys455Gln)"	""
"0000728484"	"00000012"	"30"	"1456"	"0"	"1456"	"0"	"c.1456C>T"	"r.(?)"	"p.(Leu486=)"	""
"0000728485"	"00000012"	"30"	"1654"	"8"	"1654"	"8"	"c.1654+8A>G"	"r.(=)"	"p.(=)"	""
"0000728486"	"00000012"	"30"	"2060"	"0"	"2060"	"0"	"c.2060C>T"	"r.(?)"	"p.(Pro687Leu)"	""
"0000728487"	"00000012"	"50"	"3030"	"0"	"3030"	"0"	"c.3030C>G"	"r.(?)"	"p.(Asp1010Glu)"	""
"0000730039"	"00000012"	"90"	"1193"	"0"	"1196"	"0"	"c.1193_1196del"	"r.(?)"	"p.(Gln398Leufs*2)"	""
"0000736843"	"00000012"	"50"	"2467"	"0"	"2469"	"0"	"c.2467_2469del"	"r.(?)"	"p.(Glu823del)"	""
"0000759757"	"00000012"	"90"	"541"	"0"	"543"	"0"	"c.541_543del"	"r.(?)"	"p.(Asp181del)"	""
"0000759766"	"00000012"	"90"	"2632"	"0"	"2635"	"0"	"c.2632_2635del"	"r.(?)"	"p.(Glu878LysfsTer9)"	""
"0000765704"	"00000012"	"90"	"920"	"0"	"920"	"0"	"c.920T>A"	"r.(?)"	"p.(Val307Asp)"	""
"0000783511"	"00000012"	"90"	"2767"	"0"	"2767"	"0"	"c.2767del"	"r.(?)"	"p.(Glu923Lysfs*4)"	""
"0000783512"	"00000012"	"90"	"277"	"0"	"277"	"0"	"c.277G>T"	"r.(?)"	"p.(Val93Phe)"	""
"0000783513"	"00000012"	"90"	"277"	"0"	"277"	"0"	"c.277G>T"	"r.(?)"	"p.(Val93Phe)"	""
"0000783514"	"00000012"	"90"	"2668"	"0"	"2668"	"0"	"c.2668C>T"	"r.(?)"	"p.(Arg890*)"	""
"0000783515"	"00000012"	"90"	"149"	"0"	"149"	"0"	"c.149A>G"	"r.(?)"	"p.(His50Arg)"	""
"0000783595"	"00000012"	"50"	"936"	"-2"	"936"	"-2"	"c.936-2A>G"	"r.spl?"	"p.?"	""
"0000784478"	"00000012"	"50"	"381"	"10"	"381"	"10"	"c.381+10C>G"	"r.spl"	"p.?"	""
"0000791793"	"00000012"	"70"	"2656"	"0"	"2656"	"0"	"c.2656del"	"r.(?)"	"p.(Gln886Lysfs*2)"	""
"0000791794"	"00000012"	"70"	"149"	"0"	"149"	"0"	"c.149A>G"	"r.(?)"	"p.(His50Arg)"	""
"0000793785"	"00000012"	"70"	"2209"	"0"	"2209"	"0"	"c.2209A>G"	"r.(?)"	"p.(Thr737Ala)"	"0"
"0000809948"	"00000012"	"10"	"-19005"	"0"	"-19005"	"0"	"c.-19005A>G"	"r.(?)"	"p.(=)"	""
"0000809949"	"00000012"	"30"	"-18504"	"0"	"-18504"	"0"	"c.-18504G>A"	"r.(?)"	"p.(=)"	""
"0000809950"	"00000012"	"30"	"567"	"0"	"567"	"0"	"c.567G>A"	"r.(?)"	"p.(Gln189=)"	""
"0000809951"	"00000012"	"30"	"934"	"0"	"934"	"0"	"c.934T>C"	"r.(?)"	"p.(Leu312=)"	""
"0000809953"	"00000012"	"50"	"1349"	"0"	"1349"	"0"	"c.1349A>G"	"r.(?)"	"p.(Gln450Arg)"	""
"0000809954"	"00000012"	"10"	"1694"	"0"	"1694"	"0"	"c.1694T>C"	"r.(?)"	"p.(Val565Ala)"	""
"0000809955"	"00000012"	"30"	"2052"	"0"	"2052"	"0"	"c.2052C>G"	"r.(?)"	"p.(Ser684=)"	""
"0000809956"	"00000012"	"30"	"2193"	"0"	"2193"	"0"	"c.2193C>T"	"r.(?)"	"p.(Ser731=)"	""
"0000809957"	"00000012"	"30"	"2260"	"8"	"2260"	"8"	"c.2260+8A>G"	"r.(=)"	"p.(=)"	""
"0000809958"	"00000012"	"30"	"2305"	"0"	"2305"	"0"	"c.2305A>G"	"r.(?)"	"p.(Arg769Gly)"	""
"0000809959"	"00000012"	"30"	"2398"	"0"	"2398"	"0"	"c.2398A>G"	"r.(?)"	"p.(Arg800Gly)"	""
"0000809961"	"00000012"	"50"	"2600"	"-6"	"2600"	"-3"	"c.2600-6_2600-3dup"	"r.spl?"	"p.?"	""
"0000809962"	"00000012"	"30"	"2691"	"0"	"2691"	"0"	"c.2691G>T"	"r.(?)"	"p.(Arg897Ser)"	""
"0000809963"	"00000012"	"30"	"2996"	"10"	"2996"	"10"	"c.2996+10T>C"	"r.(=)"	"p.(=)"	""
"0000809964"	"00000012"	"30"	"2996"	"20"	"2996"	"21"	"c.2996+20_2996+21del"	"r.(=)"	"p.(=)"	""
"0000816089"	"00000012"	"70"	"1655"	"-433"	"1655"	"-432"	"c.1655-433_1655-432ins[G;412+1208_1655-432]"	"r.spl"	"p.?"	"5i_15i"
"0000818295"	"00000012"	"90"	"149"	"0"	"149"	"0"	"c.149A>G"	"r.(?)"	"p.(His50Arg)"	"0"
"0000827571"	"00000012"	"90"	"736"	"0"	"736"	"0"	"c.736C>T"	"r.(?)"	"p.(Gln246*)"	"0"
"0000827836"	"00000012"	"90"	"400"	"0"	"403"	"0"	"c.400_403del"	"r.(?)"	"p.(Glu134IlefsTer10)"	""
"0000830140"	"00000012"	"70"	"710"	"0"	"710"	"0"	"c.710dup"	"r.(?)"	"p.(Tyr238Valfs*2)"	""
"0000830141"	"00000012"	"70"	"1193"	"0"	"1196"	"0"	"c.1193_1196del"	"r.(?)"	"p.(Gln398LeufsTer2)"	""
"0000830142"	"00000012"	"70"	"710"	"0"	"710"	"0"	"c.710del"	"r.(?)"	"p.(Lys237Serfs*6)"	""
"0000830143"	"00000012"	"70"	"710"	"0"	"710"	"0"	"c.710del"	"r.(?)"	"p.(Lys237Serfs*6)"	""
"0000842839"	"00000012"	"70"	"935"	"706"	"935"	"706"	"c.935+706A>G"	"r.spl?"	"p.?"	"0"
"0000842840"	"00000012"	"70"	"935"	"0"	"936"	"0"	"c.(935+1_?)_(?_936-1)ins(62)"	"r.spl?"	"p.Asn313fs*330"	"0"
"0000842841"	"00000012"	"70"	"2953"	"0"	"2953"	"0"	"c.2953G>A"	"r.(?)"	"p.(Gly985Ser)"	"0"
"0000856371"	"00000012"	"50"	"74"	"0"	"74"	"0"	"c.74A>G"	"r.(?)"	"p.(Gln25Arg)"	""
"0000856372"	"00000012"	"50"	"1621"	"0"	"1621"	"0"	"c.1621G>A"	"r.(?)"	"p.(Asp541Asn)"	""
"0000856373"	"00000012"	"30"	"1654"	"14"	"1654"	"14"	"c.1654+14T>A"	"r.(=)"	"p.(=)"	""
"0000856375"	"00000012"	"10"	"2033"	"0"	"2033"	"0"	"c.2033C>G"	"r.(?)"	"p.(Ala678Gly)"	""
"0000856376"	"00000012"	"10"	"2610"	"0"	"2610"	"0"	"c.2610G>C"	"r.(?)"	"p.(Gln870His)"	""
"0000856377"	"00000012"	"10"	"2620"	"0"	"2620"	"0"	"c.2620G>C"	"r.(?)"	"p.(Glu874Gln)"	""
"0000856378"	"00000012"	"10"	"2623"	"0"	"2623"	"0"	"c.2623G>A"	"r.(?)"	"p.(Glu875Lys)"	""
"0000856379"	"00000012"	"10"	"2632"	"0"	"2632"	"0"	"c.2632G>A"	"r.(?)"	"p.(Glu878Lys)"	""
"0000856380"	"00000012"	"10"	"2635"	"0"	"2635"	"0"	"c.2635G>A"	"r.(?)"	"p.(Glu879Lys)"	""
"0000856381"	"00000012"	"10"	"2638"	"0"	"2638"	"0"	"c.2638G>A"	"r.(?)"	"p.(Glu880Lys)"	""
"0000867082"	"00000012"	"30"	"382"	"0"	"382"	"0"	"c.382G>A"	"r.(?)"	"p.(Val128Ile)"	""
"0000867083"	"00000012"	"30"	"1020"	"0"	"1020"	"0"	"c.1020G>A"	"r.(?)"	"p.(Glu340=)"	""
"0000867084"	"00000012"	"30"	"1654"	"9"	"1654"	"9"	"c.1654+9C>T"	"r.(=)"	"p.(=)"	""
"0000867085"	"00000012"	"30"	"2025"	"0"	"2025"	"0"	"c.2025G>T"	"r.(?)"	"p.(Leu675Phe)"	""
"0000867086"	"00000012"	"10"	"2052"	"0"	"2052"	"0"	"c.2052C>G"	"r.(?)"	"p.(Ser684=)"	""
"0000867087"	"00000012"	"30"	"2260"	"12"	"2260"	"12"	"c.2260+12G>A"	"r.(=)"	"p.(=)"	""
"0000867088"	"00000012"	"30"	"2757"	"4"	"2757"	"4"	"c.2757+4dup"	"r.spl?"	"p.?"	""
"0000867089"	"00000012"	"30"	"6901"	"0"	"6901"	"0"	"c.*3862G>C"	"r.(=)"	"p.(=)"	""
"0000880875"	"00000012"	"70"	"1654"	"833"	"2599"	"423"	"c.1654+833_2599+423del"	"r.(?)"	"p.?"	"_16_19_"
"0000880877"	"00000012"	"70"	"2387"	"1"	"2387"	"1"	"c.2387+1G>C"	"r.spl"	"p.?"	""
"0000880878"	"00000012"	"70"	"2387"	"1"	"2387"	"1"	"c.2387+1G>C"	"r.spl"	"p.?"	""
"0000895950"	"00000012"	"30"	"-951"	"0"	"-951"	"0"	"c.-951C>T"	"r.(?)"	"p.(=)"	""
"0000895951"	"00000012"	"30"	"714"	"0"	"714"	"0"	"c.714T>C"	"r.(?)"	"p.(Tyr238=)"	""
"0000895952"	"00000012"	"30"	"1020"	"0"	"1020"	"0"	"c.1020G>A"	"r.(?)"	"p.(Glu340=)"	""
"0000895953"	"00000012"	"10"	"1264"	"0"	"1264"	"0"	"c.1264A>G"	"r.(?)"	"p.(Lys422Glu)"	""
"0000895954"	"00000012"	"50"	"2168"	"0"	"2168"	"0"	"c.2168C>T"	"r.(?)"	"p.(Ser723Leu)"	""
"0000895955"	"00000012"	"50"	"2600"	"-1"	"2600"	"-1"	"c.2600-1G>C"	"r.spl?"	"p.?"	""
"0000931345"	"00000012"	"30"	"1182"	"0"	"1184"	"0"	"c.1182_1184del"	"r.(?)"	"p.(Glu395del)"	""
"0000939898"	"00000012"	"70"	"-951"	"0"	"-951"	"0"	"c.-951C>T"	"r.(=)"	"p.(=)"	""
"0000951689"	"00000012"	"30"	"495"	"0"	"495"	"0"	"c.495G>T"	"r.(?)"	"p.(=)"	""
"0000958466"	"00000012"	"50"	"2575"	"0"	"2575"	"0"	"c.2575G>A"	"r.(?)"	"p.(Val859Met)"	""
"0000970794"	"00000012"	"50"	"-15125"	"0"	"-15125"	"0"	"c.-15125T>C"	"r.(?)"	"p.(=)"	""
"0000970799"	"00000012"	"30"	"2033"	"0"	"2033"	"0"	"c.2033C>G"	"r.(?)"	"p.(Ala678Gly)"	""
"0000972435"	"00000012"	"90"	"508"	"0"	"509"	"0"	"c.508_509del"	"r.(?)"	"p.(Asp170PhefsTer4)"	""
"0000984478"	"00000012"	"50"	"2243"	"0"	"2243"	"0"	"c.2243G>A"	"r.(?)"	"p.(Ser748Asn)"	""
"0001006468"	"00000012"	"30"	"543"	"0"	"543"	"0"	"c.543T>A"	"r.(?)"	"p.(Asp181Glu)"	""
"0001027444"	"00000012"	"90"	"-20624"	"0"	"-20624"	"0"	"c.-20624T>A"	"r.(?)"	"p.(=)"	""
"0001027693"	"00000012"	"70"	"2927"	"0"	"2927"	"0"	"c.2927A>C"	"r.(?)"	"p.(Lys976Thr)"	""
"0001030880"	"00000012"	"90"	"686"	"0"	"689"	"0"	"c.686_689del"	"r.(?)"	"p.(Lys229IlefsTer13)"	""
"0001044127"	"00000012"	"50"	"306"	"0"	"306"	"0"	"c.306A>T"	"r.(?)"	"p.(Lys102Asn)"	""
"0001044128"	"00000012"	"50"	"343"	"0"	"343"	"0"	"c.343A>G"	"r.(?)"	"p.(Ile115Val)"	""
"0001044129"	"00000012"	"30"	"1227"	"0"	"1227"	"0"	"c.1227A>G"	"r.(?)"	"p.(=)"	""
"0001044130"	"00000012"	"30"	"1742"	"0"	"1742"	"0"	"c.1742G>A"	"r.(?)"	"p.(Cys581Tyr)"	""
"0001044131"	"00000012"	"50"	"2351"	"0"	"2365"	"0"	"c.2351_2365dup"	"r.(?)"	"p.(Ile784_Ser788dup)"	""
"0001044132"	"00000012"	"50"	"2837"	"0"	"2837"	"0"	"c.2837A>C"	"r.(?)"	"p.(Glu946Ala)"	""
"0001057270"	"00000012"	"50"	"205"	"0"	"205"	"0"	"c.205C>G"	"r.(?)"	"p.(Leu69Val)"	""
"0001057271"	"00000012"	"30"	"412"	"10"	"412"	"10"	"c.412+10G>C"	"r.(=)"	"p.(=)"	""
"0001057272"	"00000012"	"50"	"1174"	"0"	"1174"	"0"	"c.1174A>G"	"r.(?)"	"p.(Lys392Glu)"	""
"0001057273"	"00000012"	"50"	"1498"	"0"	"1498"	"0"	"c.1498T>C"	"r.(?)"	"p.(Phe500Leu)"	""
"0001057274"	"00000012"	"50"	"2254"	"0"	"2254"	"0"	"c.2254C>A"	"r.(?)"	"p.(Leu752Met)"	""
"0001057275"	"00000012"	"30"	"2387"	"8"	"2387"	"8"	"c.2387+8dup"	"r.(=)"	"p.(=)"	""
"0001057276"	"00000012"	"50"	"2929"	"-78"	"2929"	"-78"	"c.2929-78C>T"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 53
"{{screeningid}}"	"{{variantid}}"
"0000000071"	"0000001318"
"0000000156"	"0000052392"
"0000000156"	"0000052393"
"0000000209"	"0000002793"
"0000000210"	"0000008405"
"0000000210"	"0000008406"
"0000000210"	"0000010799"
"0000028980"	"0000052287"
"0000205320"	"0000434681"
"0000234633"	"0000477341"
"0000234634"	"0000477342"
"0000234635"	"0000477343"
"0000234636"	"0000477344"
"0000234637"	"0000477345"
"0000234638"	"0000477346"
"0000234899"	"0000477607"
"0000234900"	"0000477608"
"0000270430"	"0000604189"
"0000308896"	"0000683330"
"0000310774"	"0000685753"
"0000329635"	"0000713983"
"0000332757"	"0000730039"
"0000337213"	"0000736843"
"0000360081"	"0000759757"
"0000360090"	"0000759766"
"0000364797"	"0000765704"
"0000373531"	"0000783511"
"0000373532"	"0000783512"
"0000373533"	"0000783513"
"0000373534"	"0000783514"
"0000373535"	"0000783515"
"0000373615"	"0000783595"
"0000373879"	"0000784478"
"0000378887"	"0000791793"
"0000378888"	"0000791794"
"0000380633"	"0000793785"
"0000387931"	"0000816089"
"0000389330"	"0000818295"
"0000396267"	"0000827836"
"0000397957"	"0000830140"
"0000397958"	"0000830141"
"0000397959"	"0000830142"
"0000397960"	"0000830143"
"0000406512"	"0000842839"
"0000406512"	"0000842840"
"0000406513"	"0000842841"
"0000420519"	"0000880875"
"0000420520"	"0000880877"
"0000420521"	"0000880878"
"0000441956"	"0000939898"
"0000448595"	"0000958466"
"0000450457"	"0000972435"
"0000464030"	"0001027693"