### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TTLL5)
# 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}}"
"TTLL5"	"tubulin tyrosine ligase-like family, member 5"	"14"	"q24.3"	"unknown"	"NG_016974.1"	"UD_132085260178"	""	"https://www.LOVD.nl/TTLL5"	""	"1"	"19963"	"23093"	"612268"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"http://databases.lovd.nl/shared/refseq/TTLL5_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00000"	"2012-09-13 00:00:00"	"00006"	"2020-11-11 09:50:20"	"00000"	"2025-02-07 18:57:27"


## 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}}"
"00001283"	"TTLL5"	"tubulin tyrosine ligase-like family, member 5"	"001"	"NM_015072.4"	""	"NP_055887.3"	""	""	""	"-275"	"4482"	"3846"	"76127551"	"76421425"	"00000"	"2012-09-13 13:23:33"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00058"	"CORD"	"dystrophy, cone-rod (CORD)"	""	""	""	""	""	"00006"	"2012-09-22 11:31:25"	"00006"	"2020-08-30 09:43:59"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00381"	"RD"	"dystrophy, retinal (RD)"	""	""	""	""	""	"00006"	"2014-05-09 11:59:52"	"00006"	"2015-12-07 07:11:25"
"01157"	"CHTE"	"Hypothyroidism, central, testicular enlargement (CHTE)"	"XLR"	"300888"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04108"	"CORD19"	"dystrophy, cone-rod, type 19 (CORD19)"	"AR"	"615860"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-11-11 09:50:50"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"
"04217"	"WEST"	"West syndrome (WEST, epileptic encephalopathy, early infantile)"	""	""	""	""	""	"00006"	"2015-03-06 11:05:39"	""	""
"04249"	"macular dystrophy"	"dystrophy, macular"	""	""	""	""	""	"00006"	"2015-05-04 22:10:58"	"00006"	"2024-02-15 21:18:39"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"TTLL5"	"00058"
"TTLL5"	"04108"


## Individuals ## Do not remove or alter this header ##
## Count = 53
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Gender}}"	"{{Individual/Consanguinity}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Age_of_death}}"	"{{Individual/VIP}}"	"{{Individual/Data_av}}"	"{{Individual/Treatment}}"	"{{Individual/Origin/Population}}"	"{{Individual/Individual_ID}}"
"00000208"	""	""	""	"1"	""	"00037"	"{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}"	""	"M"	"no"	"Netherlands"	""	"0"	""	""	""	""
"00016582"	""	""	""	"1"	""	"00705"	"{PMID:Sergouniotis 2014:24791901}"	"4-generation family, 1 affected, unaffected carrier parents"	"M"	"yes"	""	""	"0"	""	""	"European"	""
"00016583"	""	""	""	"1"	""	"00705"	"{PMID:Sergouniotis 2014:24791901}"	"5-generation family, 1 affected, unaffected carrier parents"	"M"	"yes"	""	""	"0"	""	""	"European"	""
"00016584"	""	""	""	"1"	""	"00705"	"{PMID:Sergouniotis 2014:24791901}"	"4-generation family, 2 affected brothers (CD3/CD4), unaffected carrier parents and sibling"	"M"	"yes"	""	""	"0"	""	""	"European"	""
"00016585"	""	""	""	"1"	""	"00705"	"{PMID:Sergouniotis 2014:24791901}"	"3-generation family, 1 affected, unaffected carrier parents"	"M"	"?"	""	""	"0"	""	""	"European"	""
"00296866"	""	""	""	"1"	""	"01164"	""	""	"F"	""	""	""	"0"	""	""	""	""
"00309441"	""	""	""	"1"	""	"00004"	"{PMID:Sharon 2019:31456290}"	"1 IRD family"	""	""	"Israel"	""	"0"	""	""	""	""
"00317979"	""	""	""	"1"	""	"00006"	"{PMID:Hamada 2018:30256902}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"M"	"no"	"Japan"	""	"0"	""	""	""	"Fam1Pat1"
"00328418"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"691024"
"00335172"	""	""	""	"1"	""	"00000"	"{PMID:Haer-Wigman 2017:28224992}"	"patient"	""	"yes"	"Netherlands"	""	"0"	""	""	""	"4787"
"00358946"	""	""	""	"1"	""	"00000"	"{PMID:Tiwari 2016:27353947}"	"see paper"	"M"	""	"Switzerland"	""	"0"	""	""	""	"Case71134"
"00362239"	""	""	""	"1"	""	"04043"	"Fadaie 2021, submitted"	""	""	"no"	"Netherlands"	""	"0"	""	""	""	"?"
"00379430"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00383788"	""	""	""	"1"	""	"00000"	"{PMID:Gao 2019:31054281}"	""	"?"	""	"China"	""	"0"	""	""	""	"RD18088615_A"
"00386255"	""	""	""	"1"	""	"00000"	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"?"	""	"Spain"	""	"0"	""	""	""	"RPN-536"
"00386708"	""	""	""	"1"	""	"00000"	"{PMID:Zampaglione 2020:32037395}"	""	"?"	""	""	""	"0"	""	""	""	"OGI2834_004419"
"00388936"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 77, central areolar choroidal dystrophy, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"220"
"00389434"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 269, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"718"
"00389669"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 423, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given"	"M"	""	"Germany"	""	"0"	""	""	""	"953"
"00389814"	""	""	""	"1"	""	"00000"	"{PMID:Weisschuh 2020:32531858}"	"Filing key number: 736, cone-rod dystrophy, no patient Ids, consecutive numbers given"	"F"	""	"Germany"	""	"0"	""	""	""	"1098"
"00391366"	""	""	""	"1"	""	"00000"	"{PMID:Méjécase 2020:3278337"	""	"?"	""	"United Arab Emirates"	""	"0"	""	""	""	"34"
"00392639"	""	""	""	"1"	""	"00000"	"{PMID:Ma 2021:33691693}"	""	"?"	""	"Korea"	""	"0"	""	""	""	"120"
"00394364"	""	""	""	"1"	""	"00000"	"{PMID:Thorsteinsson 2021:33851411}"	""	"?"	""	"Iceland"	""	"0"	""	""	""	"CRD1"
"00395786"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F286"
"00395787"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:43360855}"	""	"?"	""	"Taiwan"	""	"0"	""	""	""	"F252"
"00413813"	""	""	""	"1"	""	"00000"	"{PMID:Dias-2017:28356705}"	""	"M"	"yes"	"(France)"	""	"0"	""	""	""	""
"00413814"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2016:28173158}"	""	"M"	""	""	""	"0"	""	""	""	"P1"
"00413815"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2016:28173158}"	""	"M"	""	""	""	"0"	""	""	""	"P2"
"00413816"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2016:28173158}"	""	"F"	""	""	""	"0"	""	""	""	"P3"
"00413817"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2016:28173158}"	""	"M"	""	""	""	"0"	""	""	""	"P4"
"00413818"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2016:28173158}"	""	"M"	""	""	""	"0"	""	""	""	"P5"
"00413819"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2016:28173158}"	""	"M"	"yes"	""	""	"0"	""	""	"Pakistani"	"P6"
"00413820"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2016:28173158}"	""	"M"	"yes"	""	""	"0"	""	""	"Pakistani"	"P7"
"00413821"	""	""	""	"1"	""	"00000"	"{PMID:Bedoni-2016:28173158}"	""	"M"	"yes"	""	""	"0"	""	""	"Pakistani"	"P8"
"00420549"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F252"
"00420574"	""	""	""	"1"	""	"00000"	"{PMID:Chen 2021:33608557}"	""	""	""	"Taiwan"	""	"0"	""	""	""	"F286"
"00426932"	""	""	""	"1"	""	"00000"	"{PMID:Zhu 2022:35456422}"	"family 37, individual 43"	"F"	""	""	""	"0"	""	""	""	"37_43"
"00445389"	""	""	""	"1"	""	"00006"	"{PMID:de Bruijn 2023:36524988}"	""	""	""	""	""	"0"	""	""	""	"DNA18-16222"
"00447445"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"M"	""	"Germany"	""	"0"	""	""	""	"USHII-369"
"00447540"	""	""	""	"1"	""	"00006"	"{PMID:Weisschuh 2024:37734845}"	"patient, no family history"	"F"	""	"Germany"	""	"0"	""	""	""	"CRD-823"
"00451014"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"066656"
"00451015"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"0"	""	""	""	"0"	""	""	""	"070685"
"00451016"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"070689"
"00451017"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"071376"
"00451018"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"071494"
"00451019"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"071743"
"00451020"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"071799"
"00451021"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"073205"
"00451022"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"073351"
"00451023"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"M"	""	""	""	"0"	""	""	""	"073387"
"00451024"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"073545"
"00451025"	""	""	""	"1"	""	"04405"	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	"F"	""	""	""	"0"	""	""	""	"073896"
"00459001"	""	""	""	"1"	""	"00006"	"{PMID:Wen 2023:36811936}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	"United States"	""	"0"	""	""	"Asia"	"MEP_965"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 53
"{{individualid}}"	"{{diseaseid}}"
"00000208"	"01157"
"00016582"	"00381"
"00016583"	"00381"
"00016584"	"00381"
"00016585"	"00381"
"00296866"	"00198"
"00309441"	"04214"
"00317979"	"04217"
"00328418"	"04214"
"00335172"	"00198"
"00358946"	"04214"
"00362239"	"04214"
"00379430"	"04214"
"00383788"	"04214"
"00386255"	"04214"
"00386708"	"04214"
"00388936"	"04214"
"00389434"	"04214"
"00389669"	"04214"
"00389814"	"04214"
"00391366"	"04214"
"00392639"	"04214"
"00394364"	"04214"
"00395786"	"04214"
"00395787"	"04214"
"00413813"	"04214"
"00413814"	"04214"
"00413815"	"04214"
"00413816"	"04214"
"00413817"	"04214"
"00413818"	"04214"
"00413819"	"04214"
"00413820"	"04214"
"00413821"	"04214"
"00420549"	"04214"
"00420574"	"04214"
"00426932"	"04214"
"00445389"	"00381"
"00447445"	"00198"
"00447540"	"00198"
"00451014"	"04249"
"00451015"	"04249"
"00451016"	"04249"
"00451017"	"04249"
"00451018"	"04249"
"00451019"	"04249"
"00451020"	"04249"
"00451021"	"04249"
"00451022"	"04249"
"00451023"	"04249"
"00451024"	"04249"
"00451025"	"04249"
"00459001"	"00381"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00058, 00198, 00381, 01157, 04108, 04214, 04217, 04249
## Count = 53
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000015209"	"00053"	"00016582"	"00705"	"Unknown"	"38y"	"central and peripheral cone dysfunction with preservation of rod photoreceptor function"	""	""	""	""	""	""	""	""	""	""	""
"0000015236"	"00381"	"00016583"	"00006"	"Isolated (sporadic)"	"39y"	"emmetropia, undetectable PERGs, borderline DA ERGs, subnormal LA ERGs"	""	""	""	""	""	""	""	""	""	""	""
"0000015237"	"00381"	"00016584"	"00705"	"Isolated (sporadic)"	">46y"	"more severe phenotype with poor vision from the first years of life, severe generalized cone-system dysfunction, and additional significant involvement of rod photoreceptors."	""	""	""	""	""	""	""	""	""	""	""
"0000015238"	"00381"	"00016585"	"00705"	"Isolated (sporadic)"	"53y"	"central and peripheral cone dysfunction with preservation of rod photoreceptor function"	""	""	""	""	""	""	""	""	""	""	""
"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"	""	""	""	""	""	""	""	""	""
"0000224263"	"00198"	"00296866"	"01164"	"Unknown"	""	"Retinal dystrophy (HP:0000556)"	""	""	""	""	""	""	""	""	""	""	""
"0000234761"	"04214"	"00309441"	"00004"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000241763"	"04217"	"00317979"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"West syndrome"	""
"0000246644"	"04214"	"00328418"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000252887"	"00198"	"00335172"	"00000"	"Unknown"	""	"5y-diagnosis visual impairment"	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000254244"	"04214"	"00358946"	"00000"	"Familial, autosomal recessive"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000257653"	"04214"	"00362239"	"04043"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000273303"	"04214"	"00379430"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000277573"	"04214"	"00383788"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000280058"	"04214"	"00386255"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinitis pigmentosa"	""
"0000280508"	"04214"	"00386708"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal disease"	""
"0000282477"	"04214"	"00388936"	"00000"	"Familial, autosomal recessive"	"56y"	"age at genetic diagnosis mentioned"	""	"54y"	""	""	""	""	""	""	"central areolar choroidal dystrophy"	""	""
"0000282975"	"04214"	"00389434"	"00000"	"Familial, autosomal recessive"	"53y"	"age at genetic diagnosis mentioned"	""	"50y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000283210"	"04214"	"00389669"	"00000"	"Familial, autosomal recessive"	"32y"	"age at genetic diagnosis mentioned"	""	"31y"	""	""	""	""	""	""	"autosomal recessive retinitis pigmentosa"	""	""
"0000283355"	"04214"	"00389814"	"00000"	"Familial, autosomal recessive"	"73y"	"age at genetic diagnosis mentioned"	""	"71y"	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000284806"	"04214"	"00391366"	"00000"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Cone-rod dystrophy 19 (615860)"	"Cone-rod dystrophy 19 (615860)"	""
"0000285886"	"04214"	"00392639"	"00000"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	"cone-rod dystrophy"	""
"0000287568"	"04214"	"00394364"	"00000"	"Familial, autosomal recessive"	""	"Photophobia about 20 y then progressively worsening of vision, maculopathy, conduction in optic nerves impaired"	"20y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000288948"	"04214"	"00395786"	"00000"	"Unknown"	"38y2m"	""	"32y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000288949"	"04214"	"00395787"	"00000"	"Unknown"	"38y5m"	""	"21y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000305778"	"04214"	"00413813"	"00000"	"Familial, autosomal recessive"	"9y"	"myopia, a decrease in visual acuity, abnormal oscillatory potentials, and reduced amplitudes on the 30 Hz flicker ERG but was atypical because there were no clear electronegative responses"	""	""	""	""	""	""	""	""	""	"cone dystrophy (CD)"	""
"0000305779"	"04214"	"00413814"	"00000"	"Familial, autosomal recessive"	"75y"	"VA:0.05; correction: -3.6; cone response absent; rod response reduced; macular atrophy; azoospermia"	""	""	""	""	""	""	""	""	""	"cone-dominated retinopathy"	""
"0000305780"	"04214"	"00413815"	"00000"	"Familial, autosomal recessive"	"46y"	"VA:0.05; correction: -10.00; cone response residual; rod response residual; macular atrophy"	""	""	""	""	""	""	""	""	""	"cone-dominated retinopathy"	""
"0000305781"	"04214"	"00413816"	"00000"	"Familial, autosomal recessive"	"58y"	"VA:0.16; correction: -3; cone response reduced; rod response normal"	""	""	""	""	""	""	""	""	""	"cone-dominated retinopathy"	""
"0000305782"	"04214"	"00413817"	"00000"	"Familial, autosomal recessive"	"61y"	"VA:0.03; correction: -5; cone response absent; rod response normal; macular atrophy"	""	""	""	""	""	""	""	""	""	"cone-dominated retinopathy"	""
"0000305783"	"04214"	"00413818"	"00000"	"Familial, autosomal recessive"	"38y"	"VA:0.33; correction: -8; cone response absent; rod response normal; pigmentary changes"	""	""	""	""	""	""	""	""	""	"cone-dominated retinopathy"	""
"0000305784"	"04214"	"00413819"	"00000"	"Familial, autosomal recessive"	"53y"	"correction: -8.00; macular atrophy; phthisical right eye"	""	""	""	""	""	""	""	""	""	"cone-dominated retinopathy"	""
"0000305785"	"04214"	"00413820"	"00000"	"Familial, autosomal recessive"	"38y"	"correction: -5.00; posterior subcapsular cataract"	""	""	""	""	""	""	""	""	""	"cone-dominated retinopathy"	""
"0000305786"	"04214"	"00413821"	"00000"	"Familial, autosomal recessive"	"18y"	"correction: -22.00; fairly normal retina"	""	""	""	""	""	""	""	""	""	"cone-dominated retinopathy"	""
"0000311797"	"04214"	"00420549"	"00000"	"Familial, autosomal recessive"	"38y5m"	""	"21y"	""	""	""	""	""	""	""	"cone dystrophy"	""	""
"0000311822"	"04214"	"00420574"	"00000"	"Familial, autosomal recessive"	"38y2m"	""	"32y"	""	""	""	""	""	""	""	"cone-rod dystrophy"	""	""
"0000318070"	"04214"	"00426932"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	"rod-cone dystrophy"	"rod-cone dystrophy"	""
"0000334624"	"00381"	"00445389"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	"CORD19"	"cone dystrophy"	""
"0000336644"	"00198"	"00447445"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"Usher syndrome"	""
"0000336739"	"00198"	"00447540"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy"	""
"0000340069"	"04249"	"00451014"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000340070"	"04249"	"00451015"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000340071"	"04249"	"00451016"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"macular dystrophy"	""
"0000340072"	"04249"	"00451017"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000340073"	"04249"	"00451018"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000340074"	"04249"	"00451019"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000340075"	"04249"	"00451020"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000340076"	"04249"	"00451021"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000340077"	"04249"	"00451022"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"retinal dystrophy"	""
"0000340078"	"04249"	"00451023"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone-rod dystrophy (AR)"	""
"0000340079"	"04249"	"00451024"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"Stargardt disease"	""
"0000340080"	"04249"	"00451025"	"04405"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	"cone dystrophy"	""
"0000347431"	"00381"	"00459001"	"00006"	"Familial, X-linked recessive"	""	"see paper; ..., early-onset severe retinal dystrophy, optic nerve edema, high myopia, ptosis"	""	""	""	""	""	""	""	""	"CORD19"	"retinal dystrophy"	""


## Screenings ## Do not remove or alter this header ##
## Count = 53
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000000209"	"00000208"	"1"	"00037"	"00001"	"2012-09-13 12:02:03"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000016534"	"00016582"	"1"	"00705"	"00705"	"2014-05-09 10:54:02"	"00006"	"2014-05-28 23:11:42"	"SEQ"	"DNA"	""	""
"0000016535"	"00016583"	"1"	"00705"	"00705"	"2014-05-09 12:07:54"	""	""	"SEQ"	"DNA"	""	""
"0000016536"	"00016584"	"1"	"00705"	"00705"	"2014-05-09 12:46:00"	"00006"	"2014-05-28 21:10:35"	"SEQ"	"DNA"	""	""
"0000016537"	"00016585"	"1"	"00705"	"00705"	"2014-05-09 12:52:53"	""	""	"SEQ"	"DNA"	""	""
"0000297976"	"00296866"	"1"	"01164"	"01164"	"2020-04-14 14:28:01"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000310586"	"00309441"	"1"	"00004"	"00006"	"2020-08-28 13:59:40"	""	""	"SEQ"	"DNA"	""	""
"0000319161"	"00317979"	"1"	"00006"	"00006"	"2020-11-05 12:31:45"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"trio WES"
"0000329632"	"00328418"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000336401"	"00335172"	"1"	"00000"	"00006"	"2021-03-04 11:06:46"	""	""	"SEQ-NG"	"DNA"	""	"gene panel"
"0000360183"	"00358946"	"1"	"00000"	"00006"	"2021-03-18 12:15:00"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000363468"	"00362239"	"1"	"04043"	"00006"	"2021-04-16 13:26:31"	""	""	"SEQ-NG"	"DNA"	""	""
"0000380630"	"00379430"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000385013"	"00383788"	"1"	"00000"	"03840"	"2021-09-29 12:39:39"	""	""	"SEQ-NG"	"DNA"	""	""
"0000387484"	"00386255"	"1"	"00000"	"03840"	"2021-10-20 11:58:39"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000387936"	"00386708"	"1"	"00000"	"03840"	"2021-10-26 11:33:19"	""	""	"SEQ-NG-I;SEQ"	"DNA"	"blood"	""
"0000390179"	"00388936"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390677"	"00389434"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000390912"	"00389669"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET9 targeted sequencing panel - see paper"
"0000391057"	"00389814"	"1"	"00000"	"03840"	"2021-11-08 10:11:04"	""	""	"SEQ-NG"	"DNA"	"blood"	"RET8 targeted sequencing panel - see paper"
"0000392608"	"00391366"	"1"	"00000"	"03840"	"2021-11-15 18:02:17"	""	""	"SEQ-NG"	"DNA"	""	"retrospective case note review, targeted gene panel testing"
"0000393886"	"00392639"	"1"	"00000"	"03840"	"2021-11-23 15:06:01"	""	""	"SEQ-NG-I;SEQ"	"DNA"	""	"whole exome sequencing"
"0000395611"	"00394364"	"1"	"00000"	"03840"	"2021-12-01 10:17:04"	""	""	"SEQ-NG"	"DNA"	""	"retrospective analysis"
"0000397025"	"00395786"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000397026"	"00395787"	"1"	"00000"	"03840"	"2021-12-09 13:32:39"	""	""	"SEQ-NG"	"DNA"	"blood"	"212 inherited retinal disease-related genes"
"0000415093"	"00413813"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000415094"	"00413814"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000415095"	"00413815"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000415096"	"00413816"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000415097"	"00413817"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000415098"	"00413818"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000415099"	"00413819"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000415100"	"00413820"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000415101"	"00413821"	"1"	"00000"	"00008"	"2022-07-22 03:34:11"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000421858"	"00420549"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000421883"	"00420574"	"1"	"00000"	"03840"	"2022-11-02 10:32:06"	""	""	"SEQ-NG"	"DNA"	""	"targeted 212 IRD-related genes"
"0000428252"	"00426932"	"1"	"00000"	"03840"	"2022-12-03 18:53:15"	""	""	"SEQ-NG;SEQ"	"DNA"	"saliva"	"panel-based next generation sequencing"
"0000446960"	"00445389"	"1"	"00006"	"00006"	"2024-01-12 10:19:03"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000449022"	"00447445"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000449117"	"00447540"	"1"	"00006"	"00006"	"2024-01-26 10:23:59"	""	""	"SEQ-NG"	"DNA"	""	"WGS"
"0000452612"	"00451014"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452613"	"00451015"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452614"	"00451016"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452615"	"00451017"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452616"	"00451018"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452617"	"00451019"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452618"	"00451020"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452619"	"00451021"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452620"	"00451022"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452621"	"00451023"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452622"	"00451024"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000452623"	"00451025"	"1"	"04405"	"00006"	"2024-03-27 11:47:00"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"smMIP-based 105 iMD/AMD genes"
"0000460622"	"00459001"	"1"	"00006"	"00006"	"2024-12-23 15:04:30"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 41
"{{screeningid}}"	"{{geneid}}"
"0000016534"	"TBX15"
"0000016534"	"TTLL5"
"0000016534"	"ZC3HAV1"
"0000016535"	"TTLL5"
"0000016536"	"FHL2"
"0000016536"	"TTLL5"
"0000016536"	"ZKSCAN4"
"0000016537"	"TTLL5"
"0000310586"	"TTLL5"
"0000319161"	"PHACTR1"
"0000329632"	"TTLL5"
"0000336401"	"TTLL5"
"0000363468"	"NBAS"
"0000363468"	"TTLL5"
"0000380630"	"TTLL5"
"0000385013"	"TTLL5"
"0000387484"	"ABCA4"
"0000387936"	"TTLL5"
"0000390179"	"TTLL5"
"0000390677"	"TTLL5"
"0000390912"	"TTLL5"
"0000391057"	"TTLL5"
"0000392608"	"TTLL5"
"0000393886"	"USH2A"
"0000395611"	"TTLL5"
"0000397025"	"TTLL5"
"0000397026"	"TTLL5"
"0000415093"	"TTLL5"
"0000415094"	"TTLL5"
"0000415095"	"TTLL5"
"0000415096"	"TTLL5"
"0000415097"	"TTLL5"
"0000415098"	"TTLL5"
"0000415099"	"TTLL5"
"0000415100"	"TTLL5"
"0000415101"	"TTLL5"
"0000421858"	"TTLL5"
"0000421883"	"TTLL5"
"0000428252"	"PRPF8"
"0000446960"	"TTLL5"
"0000460622"	"TTLL5"


## 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 = 182
"{{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}}"
"0000005390"	"3"	"50"	"14"	"76309025"	"76309025"	"subst"	"0"	"00037"	"TTLL5_000001"	"g.76309025G>A"	""	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.75842682G>A"	""	"VUS"	""
"0000036382"	"3"	"95"	"14"	"76230993"	"76230996"	"del"	"0"	"00705"	"TTLL5_000002"	"g.76230993_76230996del"	"1/28 patients"	"{PMID:Sergouniotis 2014:24791901}"	""	"1586_ 1589delAGAG"	""	"Germline"	"yes"	""	"0"	""	""	"g.75764650_75764653del"	""	"pathogenic"	""
"0000036383"	"1"	"95"	"14"	"76156564"	"76156564"	"del"	"8.15388E-6"	"00705"	"TTLL5_000003"	"g.76156564del"	"1/28 patients"	"{PMID:Sergouniotis 2014:24791901}"	""	"401delT"	""	"Germline"	"yes"	""	"0"	""	""	"g.75690221del"	""	"pathogenic"	""
"0000036384"	"2"	"95"	"14"	"76330037"	"76330037"	"subst"	"0"	"00705"	"TTLL5_000004"	"g.76330037G>A"	"1/28 patients"	"{PMID:Sergouniotis 2014:24791901}"	""	"3354G>A"	""	"Germline"	"yes"	""	"0"	""	""	"g.75863694G>A"	""	"pathogenic"	""
"0000036385"	"3"	"95"	"14"	"76231034"	"76231034"	"subst"	"0"	"00705"	"TTLL5_000005"	"g.76231034G>T"	"2/63 patients"	"{PMID:Sergouniotis 2014:24791901}"	""	"1627G>T"	""	"Germline"	"yes"	""	"0"	""	""	"g.75764691G>T"	""	"pathogenic"	""
"0000036386"	"3"	"75"	"14"	"76231034"	"76231034"	"subst"	"0.000243964"	"00705"	"TTLL5_000006"	"g.76231034G>A"	"1/55 cases"	"{PMID:Sergouniotis 2014:24791901}"	""	""	""	"Germline"	"?"	""	"0"	""	""	"g.75764691G>A"	""	"likely pathogenic"	""
"0000247256"	"0"	"10"	"14"	"76249524"	"76249524"	"subst"	"0.00469543"	"02330"	"TTLL5_000035"	"g.76249524A>C"	""	""	""	"TTLL5(NM_015072.5):c.2637A>C (p.L879F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75783181A>C"	""	"benign"	""
"0000247276"	"0"	"30"	"14"	"76238118"	"76238118"	"subst"	"4.46864E-5"	"02330"	"TTLL5_000033"	"g.76238118A>G"	""	""	""	"TTLL5(NM_015072.5):c.2057A>G (p.H686R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75771775A>G"	""	"likely benign"	""
"0000247291"	"0"	"50"	"14"	"76184287"	"76184287"	"subst"	"0.000611586"	"02330"	"TTLL5_000019"	"g.76184287A>G"	""	""	""	"TTLL5(NM_015072.5):c.824A>G (p.K275R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75717944A>G"	""	"VUS"	""
"0000254350"	"0"	"30"	"14"	"76232477"	"76232477"	"subst"	"0.000411087"	"01943"	"TTLL5_000030"	"g.76232477A>G"	""	""	""	"TTLL5(NM_015072.4):c.1781A>G (p.D594G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75766134A>G"	""	"likely benign"	""
"0000255044"	"0"	"30"	"14"	"76129528"	"76129528"	"subst"	"4.08247E-6"	"01943"	"TTLL5_000007"	"g.76129528A>G"	""	""	""	"TTLL5(NM_015072.4):c.36A>G (p.T12=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75663185A>G"	""	"likely benign"	""
"0000256461"	"0"	"50"	"14"	"76201606"	"76201606"	"subst"	"9.3537E-5"	"01943"	"TTLL5_000021"	"g.76201606A>G"	""	""	""	"TTLL5(NM_015072.4):c.1255A>G (p.R419G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75735263A>G"	""	"VUS"	""
"0000256500"	"0"	"50"	"14"	"76425547"	"76425547"	"subst"	"0"	"01943"	"TGFB3_000032"	"g.76425547A>C"	""	""	""	"TGFB3(NM_003239.2):c.1222T>G (p.S408A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75959204A>C"	""	"VUS"	""
"0000309718"	"0"	"50"	"14"	"76211483"	"76211483"	"subst"	"0.000349463"	"02330"	"TTLL5_000022"	"g.76211483G>A"	""	""	""	"TTLL5(NM_015072.5):c.1327G>A (p.V443M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75745140G>A"	""	"VUS"	""
"0000309719"	"0"	"10"	"14"	"76211545"	"76211545"	"subst"	"4.06729E-6"	"02330"	"TTLL5_000023"	"g.76211545G>T"	""	""	""	"TTLL5(NM_015072.5):c.1389G>T (p.M463I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75745202G>T"	""	"benign"	""
"0000309721"	"0"	"10"	"14"	"76211948"	"76211948"	"dup"	"0"	"02330"	"TTLL5_000025"	"g.76211948dup"	""	""	""	"TTLL5(NM_015072.5):c.1487+24dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75745605dup"	""	"benign"	""
"0000309722"	"0"	"10"	"14"	"76230983"	"76230983"	"subst"	"0.00159813"	"02330"	"TTLL5_000026"	"g.76230983T>C"	""	""	""	"TTLL5(NM_015072.5):c.1576T>C (p.L526=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75764640T>C"	""	"benign"	""
"0000309723"	"0"	"30"	"14"	"76231060"	"76231060"	"subst"	"0"	"02330"	"TTLL5_000027"	"g.76231060G>A"	""	""	""	"TTLL5(NM_015072.5):c.1653G>A (p.V551=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75764717G>A"	""	"likely benign"	""
"0000309724"	"0"	"10"	"14"	"76232469"	"76232469"	"subst"	"0.00388449"	"02330"	"TTLL5_000028"	"g.76232469C>T"	""	""	""	"TTLL5(NM_015072.4):c.1773C>T (p.V591=), TTLL5(NM_015072.5):c.1773C>T (p.V591=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75766126C>T"	""	"benign"	""
"0000309725"	"0"	"30"	"14"	"76232659"	"76232659"	"subst"	"0.00344215"	"02330"	"TTLL5_000032"	"g.76232659C>T"	""	""	""	"TTLL5(NM_015072.4):c.1963C>T (p.L655=), TTLL5(NM_015072.5):c.1963C>T (p.L655=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75766316C>T"	""	"likely benign"	""
"0000309727"	"0"	"10"	"14"	"76249778"	"76249778"	"subst"	"0.0028317"	"02330"	"TTLL5_000037"	"g.76249778G>A"	""	""	""	"TTLL5(NM_015072.4):c.2891G>A (p.R964Q), TTLL5(NM_015072.5):c.2891G>A (p.R964Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75783435G>A"	""	"benign"	""
"0000309728"	"0"	"10"	"14"	"76259249"	"76259249"	"subst"	"2.21204E-5"	"02330"	"TTLL5_000038"	"g.76259249G>A"	""	""	""	"TTLL5(NM_015072.5):c.2987-10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75792906G>A"	""	"benign"	""
"0000309729"	"0"	"50"	"14"	"76259361"	"76259361"	"subst"	"0"	"02330"	"TTLL5_000039"	"g.76259361C>T"	""	""	""	"TTLL5(NM_015072.5):c.3089C>T (p.T1030I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75793018C>T"	""	"VUS"	""
"0000309730"	"0"	"50"	"14"	"76330181"	"76330185"	"del"	"4.071E-5"	"02330"	"TTLL5_000040"	"g.76330181_76330185del"	""	""	""	"TTLL5(NM_015072.5):c.3498_3502delGGACC (p.D1167Efs*16)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75863838_75863842del"	""	"VUS"	""
"0000309731"	"0"	"10"	"14"	"76349023"	"76349023"	"dup"	"0"	"02330"	"TTLL5_000043"	"g.76349023dup"	""	""	""	"TTLL5(NM_015072.5):c.3523-5dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75882680dup"	""	"benign"	""
"0000309732"	"0"	"10"	"14"	"76349023"	"76349023"	"del"	"0"	"02330"	"TTLL5_000042"	"g.76349023del"	""	""	""	"TTLL5(NM_015072.5):c.3523-5delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75882680del"	""	"benign"	""
"0000309734"	"0"	"10"	"14"	"76349049"	"76349049"	"subst"	"0.00634193"	"02330"	"TTLL5_000044"	"g.76349049C>T"	""	""	""	"TTLL5(NM_015072.4):c.3544C>T (p.L1182=), TTLL5(NM_015072.5):c.3544C>T (p.L1182=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75882706C>T"	""	"benign"	""
"0000309735"	"0"	"10"	"14"	"76156538"	"76156538"	"subst"	"0"	"02330"	"TTLL5_000009"	"g.76156538T>A"	""	""	""	"TTLL5(NM_015072.5):c.375T>A (p.S125=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75690195T>A"	""	"benign"	""
"0000309736"	"0"	"10"	"14"	"76165623"	"76165623"	"subst"	"8.1582E-6"	"02330"	"TTLL5_000010"	"g.76165623C>G"	""	""	""	"TTLL5(NM_015072.5):c.585+10C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75699280C>G"	""	"benign"	""
"0000309737"	"0"	"30"	"14"	"76173384"	"76173384"	"subst"	"0.00038671"	"02330"	"TTLL5_000011"	"g.76173384G>C"	""	""	""	"TTLL5(NM_015072.5):c.609G>C (p.E203D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75707041G>C"	""	"likely benign"	""
"0000309738"	"0"	"10"	"14"	"76173399"	"76173399"	"subst"	"9.76721E-5"	"02330"	"TTLL5_000012"	"g.76173399C>A"	""	""	""	"TTLL5(NM_015072.5):c.624C>A (p.S208=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75707056C>A"	""	"benign"	""
"0000309739"	"0"	"10"	"14"	"76173963"	"76173963"	"dup"	"0"	"02330"	"TTLL5_000014"	"g.76173963dup"	""	""	""	"TTLL5(NM_015072.5):c.656-3dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75707620dup"	""	"benign"	""
"0000309740"	"0"	"10"	"14"	"76173963"	"76173963"	"del"	"0"	"02330"	"TTLL5_000015"	"g.76173963del"	""	""	""	"TTLL5(NM_015072.5):c.656-3del, TTLL5(NM_015072.5):c.656-3delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75707620del"	""	"benign"	""
"0000309742"	"0"	"10"	"14"	"76186179"	"76186179"	"subst"	"0.000158797"	"02330"	"TTLL5_000020"	"g.76186179G>A"	""	""	""	"TTLL5(NM_015072.5):c.934+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75719836G>A"	""	"benign"	""
"0000313289"	"0"	"70"	"14"	"76425690"	"76425690"	"subst"	"0"	"02329"	"TGFB3_000034"	"g.76425690T>A"	""	""	""	"TGFB3(NM_003239.5):c.1081-2A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75959347T>A"	""	"likely pathogenic"	""
"0000313290"	"0"	"10"	"14"	"76425647"	"76425647"	"subst"	"0.00260981"	"02329"	"TGFB3_000020"	"g.76425647G>C"	""	""	""	"TGFB3(NM_003239.5):c.1122C>G (p.A374=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75959304G>C"	""	"benign"	""
"0000318057"	"0"	"30"	"14"	"76232469"	"76232469"	"subst"	"0"	"01943"	"TTLL5_000029"	"g.76232469C>G"	""	""	""	"TTLL5(NM_015072.4):c.1773C>G (p.V591=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75766126C>G"	""	"likely benign"	""
"0000318058"	"0"	"50"	"14"	"76232548"	"76232548"	"subst"	"6.50825E-5"	"01943"	"TTLL5_000031"	"g.76232548T>C"	""	""	""	"TTLL5(NM_015072.4):c.1852T>C (p.Y618H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75766205T>C"	""	"VUS"	""
"0000318059"	"0"	"30"	"14"	"76232659"	"76232659"	"subst"	"0.00344215"	"01943"	"TTLL5_000032"	"g.76232659C>T"	""	""	""	"TTLL5(NM_015072.4):c.1963C>T (p.L655=), TTLL5(NM_015072.5):c.1963C>T (p.L655=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75766316C>T"	""	"likely benign"	""
"0000318060"	"0"	"30"	"14"	"76249487"	"76249487"	"subst"	"0.0018561"	"01943"	"TTLL5_000034"	"g.76249487T>C"	""	""	""	"TTLL5(NM_015072.4):c.2603-3T>C (p.?), TTLL5(NM_015072.5):c.2603-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75783144T>C"	""	"likely benign"	""
"0000318061"	"0"	"30"	"14"	"76249702"	"76249702"	"subst"	"6.90742E-5"	"01943"	"TTLL5_000036"	"g.76249702G>A"	""	""	""	"TTLL5(NM_015072.4):c.2815G>A (p.V939I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75783359G>A"	""	"likely benign"	""
"0000318062"	"0"	"50"	"14"	"76149925"	"76149925"	"subst"	"0"	"01943"	"TTLL5_000008"	"g.76149925G>A"	""	""	""	"TTLL5(NM_015072.4):c.297G>A (p.M99I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75683582G>A"	""	"VUS"	""
"0000318063"	"0"	"50"	"14"	"76368529"	"76368529"	"subst"	"0.000113867"	"01943"	"TTLL5_000016"	"g.76368529T>C"	""	""	""	"TTLL5(NM_015072.4):c.3785T>C (p.L1262P), TTLL5(NM_015072.5):c.3785T>C (p.L1262P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75902186T>C"	""	"VUS"	""
"0000323768"	"0"	"30"	"14"	"76249487"	"76249487"	"subst"	"0.0018561"	"01804"	"TTLL5_000034"	"g.76249487T>C"	""	""	""	"TTLL5(NM_015072.4):c.2603-3T>C (p.?), TTLL5(NM_015072.5):c.2603-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75783144T>C"	""	"likely benign"	""
"0000342845"	"0"	"50"	"14"	"76201577"	"76201577"	"subst"	"0.000865818"	"02327"	"TTLL5_000017"	"g.76201577G>A"	""	""	""	"TTLL5(NM_015072.4):c.1226G>A (p.R409Q), TTLL5(NM_015072.5):c.1226G>A (p.R409Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75735234G>A"	""	"VUS"	""
"0000351365"	"0"	"90"	"14"	"76211925"	"76211925"	"subst"	"0"	"02327"	"TTLL5_000018"	"g.76211925G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.75745582G>A"	""	"pathogenic"	""
"0000553060"	"0"	"50"	"14"	"76156540"	"76156540"	"subst"	"0.000118482"	"01943"	"TTLL5_000045"	"g.76156540A>C"	""	""	""	"TTLL5(NM_015072.4):c.377A>C (p.Y126S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75690197A>C"	""	"VUS"	""
"0000553062"	"0"	"50"	"14"	"76173980"	"76173980"	"subst"	"0.00121512"	"02330"	"TTLL5_000047"	"g.76173980G>A"	""	""	""	"TTLL5(NM_015072.4):c.670G>A (p.V224M), TTLL5(NM_015072.5):c.670G>A (p.V224M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75707637G>A"	""	"VUS"	""
"0000553063"	"0"	"50"	"14"	"76184219"	"76184219"	"subst"	"4.07126E-5"	"01943"	"TTLL5_000048"	"g.76184219A>G"	""	""	""	"TTLL5(NM_015072.4):c.756A>G (p.R252=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75717876A>G"	""	"VUS"	""
"0000553064"	"0"	"50"	"14"	"76186990"	"76186990"	"subst"	"3.65711E-5"	"02330"	"TTLL5_000049"	"g.76186990A>G"	""	""	""	"TTLL5(NM_015072.5):c.986A>G (p.E329G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75720647A>G"	""	"VUS"	""
"0000553065"	"0"	"10"	"14"	"76200407"	"76200407"	"subst"	"0.00208366"	"02330"	"TTLL5_000050"	"g.76200407T>G"	""	""	""	"TTLL5(NM_015072.5):c.1186+14T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75734064T>G"	""	"benign"	""
"0000553066"	"0"	"30"	"14"	"76201530"	"76201530"	"subst"	"0.00025616"	"01804"	"TTLL5_000051"	"g.76201530C>T"	""	""	""	"TTLL5(NM_015072.4):c.1187-8C>T, TTLL5(NM_015072.5):c.1187-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75735187C>T"	""	"likely benign"	""
"0000553067"	"0"	"30"	"14"	"76201531"	"76201531"	"subst"	"0.000256135"	"01804"	"TTLL5_000052"	"g.76201531C>G"	""	""	""	"TTLL5(NM_015072.4):c.1187-7C>G, TTLL5(NM_015072.5):c.1187-7C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75735188C>G"	""	"likely benign"	""
"0000553068"	"0"	"30"	"14"	"76201577"	"76201577"	"subst"	"0.000865818"	"02330"	"TTLL5_000017"	"g.76201577G>A"	""	""	""	"TTLL5(NM_015072.4):c.1226G>A (p.R409Q), TTLL5(NM_015072.5):c.1226G>A (p.R409Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75735234G>A"	""	"likely benign"	""
"0000553069"	"0"	"50"	"14"	"76201577"	"76201577"	"subst"	"0.000865818"	"01943"	"TTLL5_000017"	"g.76201577G>A"	""	""	""	"TTLL5(NM_015072.4):c.1226G>A (p.R409Q), TTLL5(NM_015072.5):c.1226G>A (p.R409Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75735234G>A"	""	"VUS"	""
"0000553070"	"0"	"10"	"14"	"76211482"	"76211482"	"subst"	"0.00165399"	"02330"	"TTLL5_000053"	"g.76211482C>T"	""	""	""	"TTLL5(NM_015072.4):c.1326C>T (p.L442=), TTLL5(NM_015072.5):c.1326C>T (p.L442=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75745139C>T"	""	"benign"	""
"0000553071"	"0"	"30"	"14"	"76211482"	"76211482"	"subst"	"0.00165399"	"01943"	"TTLL5_000053"	"g.76211482C>T"	""	""	""	"TTLL5(NM_015072.4):c.1326C>T (p.L442=), TTLL5(NM_015072.5):c.1326C>T (p.L442=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75745139C>T"	""	"likely benign"	""
"0000553072"	"0"	"30"	"14"	"76232469"	"76232469"	"subst"	"0.00388449"	"01943"	"TTLL5_000028"	"g.76232469C>T"	""	""	""	"TTLL5(NM_015072.4):c.1773C>T (p.V591=), TTLL5(NM_015072.5):c.1773C>T (p.V591=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75766126C>T"	""	"likely benign"	""
"0000553073"	"0"	"50"	"14"	"76232599"	"76232599"	"subst"	"4.06659E-5"	"02330"	"TTLL5_000054"	"g.76232599A>G"	""	""	""	"TTLL5(NM_015072.5):c.1903A>G (p.M635V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75766256A>G"	""	"VUS"	""
"0000553074"	"0"	"50"	"14"	"76232677"	"76232677"	"subst"	"2.45064E-5"	"01943"	"TTLL5_000055"	"g.76232677C>G"	""	""	""	"TTLL5(NM_015072.4):c.1981C>G (p.L661V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75766334C>G"	""	"VUS"	""
"0000553075"	"0"	"30"	"14"	"76241815"	"76241815"	"subst"	"0.000854332"	"02330"	"TTLL5_000056"	"g.76241815T>C"	""	""	""	"TTLL5(NM_015072.5):c.2137-12T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75775472T>C"	""	"likely benign"	""
"0000553076"	"0"	"50"	"14"	"76243140"	"76243148"	"del"	"0"	"01943"	"TTLL5_000057"	"g.76243140_76243148del"	""	""	""	"TTLL5(NM_015072.4):c.2334_2342delAGAGGAAGA (p.E778_E780del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75776797_75776805del"	""	"VUS"	""
"0000553077"	"0"	"30"	"14"	"76243188"	"76243188"	"subst"	"0"	"01943"	"TTLL5_000058"	"g.76243188A>G"	""	""	""	"TTLL5(NM_015072.4):c.2382A>G (p.Q794=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75776845A>G"	""	"likely benign"	""
"0000553078"	"0"	"10"	"14"	"76249487"	"76249487"	"subst"	"0.0018561"	"02330"	"TTLL5_000034"	"g.76249487T>C"	""	""	""	"TTLL5(NM_015072.4):c.2603-3T>C (p.?), TTLL5(NM_015072.5):c.2603-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75783144T>C"	""	"benign"	""
"0000553079"	"0"	"50"	"14"	"76249837"	"76249837"	"subst"	"0.000660928"	"02327"	"TTLL5_000059"	"g.76249837A>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75783494A>T"	""	"VUS"	""
"0000553080"	"0"	"10"	"14"	"76249857"	"76249857"	"subst"	"0.000501727"	"02330"	"TTLL5_000060"	"g.76249857C>G"	""	""	""	"TTLL5(NM_015072.5):c.2970C>G (p.P990=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75783514C>G"	""	"benign"	""
"0000553081"	"0"	"10"	"14"	"76286442"	"76286442"	"subst"	"2.92696E-5"	"02330"	"TTLL5_000061"	"g.76286442G>A"	""	""	""	"TTLL5(NM_015072.4):c.3264G>A (p.P1088=), TTLL5(NM_015072.5):c.3264G>A (p.P1088=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75820099G>A"	""	"benign"	""
"0000553082"	"0"	"30"	"14"	"76330212"	"76330212"	"subst"	"0"	"01943"	"TTLL5_000062"	"g.76330212C>G"	""	""	""	"TTLL5(NM_015072.4):c.3522+7C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75863869C>G"	""	"likely benign"	""
"0000553083"	"0"	"30"	"14"	"76349049"	"76349049"	"subst"	"0.00634193"	"01943"	"TTLL5_000044"	"g.76349049C>T"	""	""	""	"TTLL5(NM_015072.4):c.3544C>T (p.L1182=), TTLL5(NM_015072.5):c.3544C>T (p.L1182=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75882706C>T"	""	"likely benign"	""
"0000553084"	"0"	"50"	"14"	"76368529"	"76368529"	"subst"	"0.000113867"	"02330"	"TTLL5_000016"	"g.76368529T>C"	""	""	""	"TTLL5(NM_015072.4):c.3785T>C (p.L1262P), TTLL5(NM_015072.5):c.3785T>C (p.L1262P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75902186T>C"	""	"VUS"	""
"0000553085"	"0"	"50"	"14"	"76425594"	"76425594"	"subst"	"2.84319E-5"	"01943"	"TTLL5_000063"	"g.76425594A>G"	""	""	""	"TGFB3(NM_001329939.1):c.1175T>C (p.V392A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75959251A>G"	""	"VUS"	""
"0000615094"	"0"	"50"	"14"	"76147891"	"76147891"	"subst"	"0"	"02330"	"TTLL5_000064"	"g.76147891G>T"	""	""	""	"TTLL5(NM_015072.5):c.185G>T (p.R62L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75681548G>T"	""	"VUS"	""
"0000615095"	"0"	"50"	"14"	"76173980"	"76173980"	"subst"	"0.00121512"	"01943"	"TTLL5_000047"	"g.76173980G>A"	""	""	""	"TTLL5(NM_015072.4):c.670G>A (p.V224M), TTLL5(NM_015072.5):c.670G>A (p.V224M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75707637G>A"	""	"VUS"	""
"0000615096"	"0"	"50"	"14"	"76198698"	"76198698"	"subst"	"2.84569E-5"	"02330"	"TTLL5_000065"	"g.76198698G>A"	""	""	""	"TTLL5(NM_015072.5):c.1060G>A (p.V354M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75732355G>A"	""	"VUS"	""
"0000615097"	"0"	"70"	"14"	"76211845"	"76211845"	"subst"	"1.21922E-5"	"02330"	"TTLL5_000066"	"g.76211845C>T"	""	""	""	"TTLL5(NM_015072.5):c.1408C>T (p.R470*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75745502C>T"	""	"likely pathogenic"	""
"0000615098"	"0"	"50"	"14"	"76259417"	"76259417"	"subst"	"4.88679E-5"	"02330"	"TTLL5_000068"	"g.76259417A>G"	""	""	""	"TTLL5(NM_015072.5):c.3145A>G (p.S1049G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75793074A>G"	""	"VUS"	""
"0000623166"	"0"	"90"	"14"	"76245955"	"76245955"	"subst"	"0"	"01943"	"TTLL5_000067"	"g.76245955C>T"	""	""	""	"TTLL5(NM_015072.4):c.2425C>T (p.Q809*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75779612C>T"	""	"pathogenic"	""
"0000623167"	"0"	"50"	"14"	"76425035"	"76425035"	"subst"	"0"	"02326"	"TGFB3_000023"	"g.76425035G>A"	""	""	""	"TGFB3(NM_003239.2):c.*495C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75958692G>A"	""	"VUS"	""
"0000623168"	"0"	"30"	"14"	"76425539"	"76425539"	"subst"	"5.68551E-5"	"01943"	"TTLL5_000069"	"g.76425539T>C"	""	""	""	"TGFB3(NM_001329939.1):c.1230A>G (p.K410=), TGFB3(NM_003239.5):c.1230A>G (p.K410=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75959196T>C"	""	"likely benign"	""
"0000623169"	"0"	"30"	"14"	"76425584"	"76425584"	"subst"	"2.8431E-5"	"01943"	"TTLL5_000070"	"g.76425584G>A"	""	""	""	"TGFB3(NM_003239.2):c.1185C>T (p.T395=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75959241G>A"	""	"likely benign"	""
"0000657489"	"0"	"30"	"14"	"76135776"	"76135776"	"subst"	"0.000146253"	"01943"	"TTLL5_000071"	"g.76135776T>C"	""	""	""	"TTLL5(NM_015072.4):c.92T>C (p.M31T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75669433T>C"	""	"likely benign"	""
"0000657490"	"0"	"30"	"14"	"76165541"	"76165541"	"subst"	"8.94942E-5"	"01943"	"TTLL5_000072"	"g.76165541G>A"	""	""	""	"TTLL5(NM_015072.4):c.513G>A (p.S171=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75699198G>A"	""	"likely benign"	""
"0000657491"	"0"	"90"	"14"	"76238193"	"76238196"	"dup"	"0"	"01943"	"TTLL5_000073"	"g.76238193_76238196dup"	""	""	""	"TTLL5(NM_015072.4):c.2132_2135dupAGAT (p.M712Ifs*15)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.75771850_75771853dup"	""	"pathogenic"	""
"0000660685"	"3"	"70"	"14"	"76238193"	"76238193"	"dup"	"0"	"01164"	"TTLL5_000073"	"g.76238193dup"	""	""	""	""	"ACMG grading: PVS1,PM2; Bedoni et al. 2016. Hum Mol Genet 25: 4546-4555\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message."	"Germline"	""	"rs781415819"	"0"	""	""	""	""	"likely pathogenic"	"ACMG"
"0000680049"	"0"	"50"	"14"	"76201530"	"76201530"	"subst"	"0.00025616"	"01943"	"TTLL5_000051"	"g.76201530C>T"	""	""	""	"TTLL5(NM_015072.4):c.1187-8C>T, TTLL5(NM_015072.5):c.1187-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680050"	"0"	"50"	"14"	"76201531"	"76201531"	"subst"	"0.000256135"	"01943"	"TTLL5_000052"	"g.76201531C>G"	""	""	""	"TTLL5(NM_015072.4):c.1187-7C>G, TTLL5(NM_015072.5):c.1187-7C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680051"	"0"	"50"	"14"	"76241920"	"76241920"	"subst"	"2.03095E-5"	"01943"	"TTLL5_000074"	"g.76241920C>T"	""	""	""	"TTLL5(NM_015072.4):c.2230C>T (p.R744C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680052"	"0"	"50"	"14"	"76425631"	"76425631"	"subst"	"0"	"02326"	"TTLL5_000075"	"g.76425631G>A"	""	""	""	"TGFB3(NM_001329939.1):c.1138C>T (p.P380S), TGFB3(NM_003239.2):c.1138C>T (p.P380S), TGFB3(NM_003239.5):c.1138C>T (p.P380S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000685497"	"0"	"90"	"14"	"76238198"	"76238198"	"subst"	"0"	"00004"	"TTLL5_000076"	"g.76238198G>A"	"1/2420 IRD families"	"{PMID:Sharon 2019:31456290}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	"ACMG"
"0000701821"	"1"	"50"	"14"	"76165596"	"76165596"	"subst"	"8.14193E-5"	"00006"	"TTLL5_000077"	"g.76165596G>A"	""	"{PMID:Hamada 2018:30256902}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000701822"	"2"	"70"	"14"	"76241852"	"76241852"	"subst"	"2.43845E-5"	"00006"	"TTLL5_000078"	"g.76241852G>A"	""	"{PMID:Hamada 2018:30256902}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000713980"	"3"	"70"	"14"	"76286355"	"76286358"	"del"	"0"	"00000"	"TTLL5_000079"	"g.76286355_76286358del"	""	"{PMID:Zhou 2018:29453956}"	""	"p.1059_1060del"	""	"Germline"	""	""	"0"	""	""	"g.75820012_75820015del"	""	"likely pathogenic (dominant)"	""
"0000724868"	"0"	"30"	"14"	"76184244"	"76184244"	"subst"	"8.54993E-5"	"01943"	"TTLL5_000080"	"g.76184244C>T"	""	""	""	"TTLL5(NM_015072.4):c.781C>T (p.R261W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724869"	"0"	"50"	"14"	"76211445"	"76211445"	"subst"	"0.000122033"	"01943"	"TTLL5_000081"	"g.76211445G>A"	""	""	""	"TTLL5(NM_015072.4):c.1289G>A (p.R430H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724870"	"0"	"70"	"14"	"76231034"	"76231034"	"subst"	"0.000243964"	"02327"	"TTLL5_000006"	"g.76231034G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000724871"	"0"	"90"	"14"	"76330191"	"76330191"	"subst"	"2.45308E-5"	"01943"	"TTLL5_000082"	"g.76330191C>T"	""	""	""	"TTLL5(NM_015072.4):c.3508C>T (p.R1170*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000724872"	"0"	"50"	"14"	"76368499"	"76368499"	"subst"	"0"	"01943"	"TTLL5_000083"	"g.76368499A>G"	""	""	""	"TTLL5(NM_015072.4):c.3755A>G (p.E1252G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000735676"	"0"	"90"	"14"	"76211925"	"76211925"	"subst"	"0"	"00000"	"TTLL5_000018"	"g.76211925G>A"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75745582G>A"	""	"pathogenic"	""
"0000735773"	"0"	"90"	"14"	"76211925"	"76211925"	"subst"	"0"	"00000"	"TTLL5_000018"	"g.76211925G>A"	""	"{PMID:Haer-Wigman 2017:28224992}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75745582G>A"	""	"pathogenic"	""
"0000759967"	"0"	"50"	"14"	"76249837"	"76249837"	"subst"	"0.000660928"	"00000"	"TTLL5_000059"	"g.76249837A>T"	""	"{PMID:Tiwari 2016:27353947}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75783494A>T"	""	"VUS"	""
"0000764123"	"0"	"30"	"14"	"76166702"	"76166702"	"subst"	"0"	"04043"	"TTLL5_000084"	"g.76166702C>T"	""	"{PMID:Fadaie 2021:34795310}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75700359C>T"	""	"likely benign"	""
"0000793782"	"3"	"70"	"14"	"76286355"	"76286358"	"del"	"0"	"00000"	"TTLL5_000079"	"g.76286355_76286358del"	""	"{PMID:Zhou-2011:21677794}"	""	"c.3177_3180del"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000806497"	"0"	"50"	"14"	"76184203"	"76184203"	"subst"	"0"	"02330"	"TTLL5_000085"	"g.76184203G>A"	""	""	""	"TTLL5(NM_015072.5):c.741-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806498"	"0"	"90"	"14"	"76198748"	"76198749"	"del"	"0"	"02330"	"TTLL5_000086"	"g.76198748_76198749del"	""	""	""	"TTLL5(NM_015072.5):c.1110_1111delTC (p.P371Ffs*5)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000806499"	"0"	"90"	"14"	"76211468"	"76211468"	"subst"	"0"	"01943"	"TTLL5_000087"	"g.76211468G>T"	""	""	""	"TTLL5(NM_015072.4):c.1312G>T (p.E438*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000806500"	"0"	"30"	"14"	"76249778"	"76249778"	"subst"	"0.0028317"	"01943"	"TTLL5_000037"	"g.76249778G>A"	""	""	""	"TTLL5(NM_015072.4):c.2891G>A (p.R964Q), TTLL5(NM_015072.5):c.2891G>A (p.R964Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806501"	"0"	"30"	"14"	"76286442"	"76286442"	"subst"	"2.92696E-5"	"01943"	"TTLL5_000061"	"g.76286442G>A"	""	""	""	"TTLL5(NM_015072.4):c.3264G>A (p.P1088=), TTLL5(NM_015072.5):c.3264G>A (p.P1088=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806502"	"0"	"50"	"14"	"76349196"	"76349196"	"subst"	"0.000113738"	"01943"	"TTLL5_000088"	"g.76349196C>T"	""	""	""	"TTLL5(NM_015072.4):c.3691C>T (p.P1231S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806503"	"0"	"50"	"14"	"76425631"	"76425631"	"subst"	"0"	"01943"	"TTLL5_000075"	"g.76425631G>A"	""	""	""	"TGFB3(NM_001329939.1):c.1138C>T (p.P380S), TGFB3(NM_003239.2):c.1138C>T (p.P380S), TGFB3(NM_003239.5):c.1138C>T (p.P380S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000811854"	"0"	"70"	"14"	"76241850"	"76241850"	"subst"	"0.000121922"	"00000"	"TTLL5_000090"	"g.76241850G>T"	""	"{PMID:Gao 2019:31054281}"	""	"c.2160G>T, p.Lys720Asn"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.75775507G>T"	""	"likely pathogenic"	""
"0000811894"	"0"	"70"	"14"	"76241849"	"76241849"	"subst"	"0.000121906"	"00000"	"TTLL5_000089"	"g.76241849A>T"	""	"{PMID:Gao 2019:31054281}"	""	"c.2159A>T, p.Lys720Met"	"heterozygous"	"Germline"	"?"	""	"0"	""	""	"g.75775506A>T"	""	"likely pathogenic"	""
"0000815621"	"0"	"50"	"14"	"76249853"	"76249853"	"subst"	"7.80518E-5"	"00000"	"TTLL5_000091"	"g.76249853G>A"	""	"{PMID:Rodriguez-Munoz 2020:32036094}"	""	"TTLL5:NM_015072 c.G2966A, p.R989H"	"heterozygous, individual unsolved, causality of variants unknown"	"Germline"	"?"	""	"0"	""	""	"g.75783510G>A"	""	"VUS"	"ACMG"
"0000816094"	"0"	"90"	"14"	"76147917"	"76147917"	"subst"	"8.142E-6"	"00000"	"TTLL5_000092"	"g.76147917C>T"	""	"{PMID:Zampaglione 2020:32037395}"	""	"TTLL5 c.211C>T, p.Arg71Ter"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75681574C>T"	""	"pathogenic"	""
"0000816419"	"0"	"70"	"14"	"76147966"	"76147967"	"dup"	"0"	"00000"	"TTLL5_000093"	"g.76147966_76147967dup"	""	"{PMID:Zampaglione 2020:32037395}"	""	"c.260_261dup, p.Glu88MetfsTer12"	"heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75681623_75681624dup"	""	"likely pathogenic"	""
"0000819524"	"1"	"70"	"14"	"76230967"	"76230967"	"dup"	"0"	"00000"	"TTLL5_000095"	"g.76230967dup"	""	"{PMID:Weisschuh 2020:32531858}"	""	"TTLL5, variant 1: c.1560dup/p.D521*, variant 2: c.1560dup/p.D521*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75764624dup"	""	"likely pathogenic"	""
"0000820022"	"1"	"70"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	""	"{PMID:Weisschuh 2020:32531858}"	""	"TTLL5, variant 1 :Deletion exon 10-15, variant 2 :Deletion exon 10-15"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000820257"	"1"	"70"	"14"	"76173405"	"76173405"	"subst"	"0"	"00000"	"TTLL5_000094"	"g.76173405C>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"TTLL5, variant 1: c.630C>A/p.Y210*, variant 2: c.630C>A/p.Y210*"	"solved, homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75707062C>A"	""	"likely pathogenic"	""
"0000820402"	"1"	"70"	"14"	"76147917"	"76147917"	"subst"	"8.142E-6"	"00000"	"TTLL5_000092"	"g.76147917C>T"	""	"{PMID:Weisschuh 2020:32531858}"	""	"TTLL5, variant 1: c.211C>T/p.R71*, variant 2 :1627G>A/p.E543K"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75681574C>T"	""	"likely pathogenic"	""
"0000820900"	"1"	"70"	"14"	"76231034"	"76231034"	"subst"	"0.000243964"	"00000"	"TTLL5_000006"	"g.76231034G>A"	""	"{PMID:Weisschuh 2020:32531858}"	""	"TTLL5, variant 1: c.211C>T/p.R71*, variant 2 :1627G>A/p.E543K"	"solved, compound heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75764691G>A"	""	"likely pathogenic"	""
"0000822951"	"3"	"70"	"14"	"0"	"0"	""	"0"	"00000"	"SERPINA1_000009"	"g.?"	""	"{PMID:Méjécase 2020:32783370}"	""	"TTLL5 Multi-exons (16-26) deletion"	"homozygous"	"Unknown"	"?"	""	"0"	""	""	"g.?"	""	"likely pathogenic"	""
"0000824789"	"0"	"50"	"14"	"76211888"	"76211888"	"subst"	"0"	"00000"	"TTLL5_000096"	"g.76211888G>T"	""	"{PMID:Ma 2021:33691693}"	""	"TTLL5 c.G1451T, p.R484L"	"marked as causative, heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75745545G>T"	""	"VUS"	"ACMG"
"0000827000"	"0"	"50"	"14"	"76135778"	"76135778"	"subst"	"0"	"00000"	"TTLL5_000097"	"g.76135778T>A"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"TTLL5 c.94T>A, p.Trp32Arg"	"heterozygous, causality unknown"	"Unknown"	"?"	""	"0"	""	""	"g.75669435T>A"	""	"VUS"	""
"0000827001"	"0"	"50"	"14"	"76135827"	"76135827"	"subst"	"0"	"00000"	"TTLL5_000098"	"g.76135827C>A"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"TTLL5 c.143C>A, p.Ala48Asp"	"heterozygous, causality unknown"	"Unknown"	"?"	""	"0"	""	""	"g.75669484C>A"	""	"VUS"	""
"0000827002"	"0"	"50"	"14"	"76173400"	"76173400"	"subst"	"3.66241E-5"	"00000"	"TTLL5_000099"	"g.76173400C>T"	""	"{PMID:Thorsteinsson 2021:33851411}"	""	"TTLL5 c.625C>T, p.Arg209Cys"	"heterozygous, causality unknown"	"Unknown"	"?"	""	"0"	""	""	"g.75707057C>T"	""	"VUS"	""
"0000828771"	"0"	"90"	"14"	"76241902"	"76241902"	"subst"	"1.62483E-5"	"00000"	"TTLL5_000101"	"g.76241902C>T"	""	"{PMID:Chen 2021:43360855}"	""	"TTLL5 c.2212C>T(;)3177_3180del, V1: c.2212C>T, (p.Arg738Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75775559C>T"	""	"pathogenic"	"ACMG"
"0000828772"	"0"	"50"	"14"	"76198741"	"76198741"	"subst"	"4.06412E-6"	"00000"	"TTLL5_000100"	"g.76198741A>C"	""	"{PMID:Chen 2021:43360855}"	""	"TTLL5 c.1103A>C(;)3177_3180del, V1: c.1103A>C, (p.Asn368Thr)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75732398A>C"	""	"VUS"	"ACMG"
"0000828976"	"0"	"90"	"14"	"76286355"	"76286358"	"del"	"0"	"00000"	"TTLL5_000079"	"g.76286355_76286358del"	""	"{PMID:Chen 2021:43360855}"	""	"TTLL5 c.2212C>T(;)3177_3180del, V2: c.3177_3180delAAAC, (p.Asn1060Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75820012_75820015del"	""	"pathogenic"	"ACMG"
"0000828977"	"0"	"90"	"14"	"76286355"	"76286358"	"del"	"0"	"00000"	"TTLL5_000079"	"g.76286355_76286358del"	""	"{PMID:Chen 2021:43360855}"	""	"TTLL5 c.1103A>C(;)3177_3180del, V2: c.3177_3180delAAAC, (p.Asn1060Ter)"	"alleles in cis or trans; heterozygous"	"Unknown"	"?"	""	"0"	""	""	"g.75820012_75820015del"	""	"pathogenic"	"ACMG"
"0000853890"	"0"	"50"	"14"	"76173362"	"76173362"	"subst"	"3.28089E-5"	"01943"	"TTLL5_000102"	"g.76173362C>T"	""	""	""	"TTLL5(NM_015072.4):c.587C>T (p.P196L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853891"	"0"	"30"	"14"	"76330003"	"76330007"	"del"	"0"	"01943"	"TTLL5_000104"	"g.76330003_76330007del"	""	""	""	"TTLL5(NM_015072.4):c.3327-7_3327-3delTCTTC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863679"	"0"	"30"	"14"	"76245969"	"76245969"	"subst"	"4.06749E-5"	"01943"	"TTLL5_000103"	"g.76245969T>G"	""	""	""	"TTLL5(NM_015072.4):c.2439T>G (p.S813=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000872838"	"3"	"90"	"14"	"76147885"	"76147887"	"delins"	"0"	"00000"	"TTLL5_000105"	"g.76147885_76147887delinsAA"	""	"{PMID:Dias-2017:28356705}"	""	"c.182-3_182-1delinsAA"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000872839"	"3"	"90"	"14"	"76232478"	"76232478"	"del"	"0"	"00000"	"TTLL5_000107"	"g.76232478del"	""	"{PMID:Bedoni-2016:28173158}"	""	"c.1782del; p.Asp594Glufs*29"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000872840"	"3"	"90"	"14"	"76149977"	"76149977"	"subst"	"4.06352E-6"	"00000"	"TTLL5_000106"	"g.76149977C>T"	""	"{PMID:Bedoni-2016:28173158}"	""	"c.349C>T; p.Gln117*"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000872841"	"3"	"90"	"14"	"76238193"	"76238194"	"ins"	"0"	"00000"	"TTLL5_000108"	"g.76238193_76238194insGATA"	""	"{PMID:Bedoni-2016:28173158}"	""	"c.2132_2133insGATA; p.Met712IleAspfs*15"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000872842"	"3"	"90"	"14"	"76231034"	"76231034"	"subst"	"0.000243964"	"00000"	"TTLL5_000006"	"g.76231034G>A"	""	"{PMID:Bedoni-2016:28173158}"	""	"c.1627G>A; p.Glu543Lys"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000872843"	"3"	"90"	"14"	"76241956"	"76241956"	"subst"	"0"	"00000"	"TTLL5_000109"	"g.76241956A>T"	""	"{PMID:Bedoni-2016:28173158}"	""	"c.2266A>T; p.Ile756Phe"	""	"Germline"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000872844"	"3"	"90"	"14"	"76231034"	"76231034"	"subst"	"0.000243964"	"00000"	"TTLL5_000006"	"g.76231034G>A"	""	"{PMID:Bedoni-2016:28173158}"	""	"c.1627G>A; p.Glu543Lys"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000872845"	"3"	"90"	"14"	"76231034"	"76231034"	"subst"	"0.000243964"	"00000"	"TTLL5_000006"	"g.76231034G>A"	""	"{PMID:Bedoni-2016:28173158}"	""	"c.1627G>A; p.Glu543Lys"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000872846"	"3"	"90"	"14"	"76231034"	"76231034"	"subst"	"0.000243964"	"00000"	"TTLL5_000006"	"g.76231034G>A"	""	"{PMID:Bedoni-2016:28173158}"	""	"c.1627G>A; p.Glu543Lys"	""	"Germline"	"yes"	""	"0"	""	""	""	""	"pathogenic"	""
"0000891893"	"0"	"50"	"14"	"76211899"	"76211899"	"subst"	"1.21858E-5"	"02325"	"TTLL5_000110"	"g.76211899A>G"	""	""	""	"TTLL5(NM_015072.5):c.1462A>G (p.T488A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000891894"	"0"	"50"	"14"	"76259417"	"76259417"	"subst"	"4.88679E-5"	"02325"	"TTLL5_000068"	"g.76259417A>G"	""	""	""	"TTLL5(NM_015072.5):c.3145A>G (p.S1049G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000891895"	"0"	"30"	"14"	"76286365"	"76286365"	"subst"	"3.42686E-5"	"02330"	"TTLL5_000111"	"g.76286365T>C"	""	""	""	"TTLL5(NM_015072.5):c.3187T>C (p.L1063=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891896"	"0"	"30"	"14"	"76330181"	"76330181"	"subst"	"0"	"02330"	"TTLL5_000112"	"g.76330181G>C"	""	""	""	"TTLL5(NM_015072.5):c.3498G>C (p.L1166=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000896678"	"0"	"50"	"14"	"76198741"	"76198741"	"subst"	"4.06412E-6"	"00000"	"TTLL5_000100"	"g.76198741A>C"	"Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000398"	"{PMID:Chen 2021:33608557}"	""	"TTLL5 c.1103A>C(;)3177_3180del; p.(Asn368Thr)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.75732398A>C"	""	"VUS"	""
"0000896679"	"0"	"90"	"14"	"76286355"	"76286358"	"del"	"0"	"00000"	"TTLL5_000079"	"g.76286355_76286358del"	"Taiwan Biobank: 0.004282; GnomAD_exome_East: 0.00278; GnomAD_All: 0.000198"	"{PMID:Chen 2021:33608557}"	""	"TTLL5 c.1103A>C(;)3177_3180del; p.(Asn1060Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.75820012_75820015del"	""	"pathogenic"	""
"0000896715"	"0"	"90"	"14"	"76241902"	"76241902"	"subst"	"1.62483E-5"	"00000"	"TTLL5_000101"	"g.76241902C>T"	"Taiwan Biobank: 0; GnomAD_exome_East: 0.000218; GnomAD_All: 0.0000159"	"{PMID:Chen 2021:33608557}"	""	"TTLL5 c.2212C>T(;)3177_3180del; p.(Arg738Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.75775559C>T"	""	"pathogenic"	""
"0000896716"	"0"	"90"	"14"	"76286355"	"76286358"	"del"	"0"	"00000"	"TTLL5_000079"	"g.76286355_76286358del"	"Taiwan Biobank: 0.004282; GnomAD_exome_East: 0.00278; GnomAD_All: 0.000198"	"{PMID:Chen 2021:33608557}"	""	"TTLL5 c.2212C>T(;)3177_3180del; p.(Asn1060Ter)"	"heterozygous"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.75820012_75820015del"	""	"pathogenic"	""
"0000905947"	"0"	"50"	"14"	"76211887"	"76211887"	"subst"	"1.62473E-5"	"00000"	"TTLL5_000113"	"g.76211887C>T"	""	"{PMID:Zhu 2022:35456422}"	""	"TTLL5 c.1450C>T, p.(Arg484Cys)"	"heterozygous, probably non-causal incidental finding"	"Germline/De novo (untested)"	"?"	""	"0"	""	""	"g.75745544C>T"	""	"VUS"	"ACMG"
"0000925916"	"0"	"30"	"14"	"76198776"	"76198776"	"subst"	"5.73799E-5"	"02330"	"TTLL5_000114"	"g.76198776A>G"	""	""	""	"TTLL5(NM_015072.5):c.1124+14A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950290"	"0"	"30"	"14"	"76349172"	"76349172"	"subst"	"0.00200684"	"02330"	"TTLL5_000115"	"g.76349172G>T"	""	""	""	"TTLL5(NM_015072.5):c.3667G>T (p.A1223S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000950291"	"0"	"30"	"14"	"76425539"	"76425539"	"subst"	"5.68551E-5"	"02329"	"TTLL5_000069"	"g.76425539T>C"	""	""	""	"TGFB3(NM_001329939.1):c.1230A>G (p.K410=), TGFB3(NM_003239.5):c.1230A>G (p.K410=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000955406"	"2"	"90"	"14"	"76330191"	"76330191"	"subst"	"2.45308E-5"	"00006"	"TTLL5_000082"	"g.76330191C>T"	""	"{PMID:de Bruijn 2023:36524988}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75863848C>T"	""	"pathogenic (recessive)"	""
"0000955407"	"1"	"70"	"14"	"76243328"	"76251684"	"del"	"0"	"00006"	"TTLL5_000116"	"g.76243328_76251684del"	""	"{PMID:de Bruijn 2023:36524988}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75776985_75785341del"	""	"likely pathogenic (recessive)"	""
"0000959250"	"0"	"70"	"14"	"76243174"	"76243174"	"subst"	"0"	"00006"	"TTLL5_000118"	"g.76243174G>T"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.75776831G>T"	""	"likely pathogenic (recessive)"	"ACMG"
"0000959324"	"0"	"70"	"14"	"76135866"	"76135866"	"subst"	"0"	"00006"	"TTLL5_000117"	"g.76135866G>A"	""	"{PMID:Weisschuh 2024:37734845}"	""	""	"ACMG PM2, PVS1"	"Germline"	""	""	"0"	""	""	"g.75669523G>A"	""	"likely pathogenic (recessive)"	"ACMG"
"0000967551"	"0"	"30"	"14"	"76241810"	"76241810"	"subst"	"0.000100103"	"02330"	"TTLL5_000119"	"g.76241810G>A"	""	""	""	"TTLL5(NM_015072.5):c.2137-17G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000967557"	"0"	"30"	"14"	"76420765"	"76420765"	"subst"	"0"	"02330"	"TTLL5_000121"	"g.76420765A>G"	""	""	""	"TTLL5(NM_015072.5):c.3824-2A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000967558"	"0"	"50"	"14"	"76425631"	"76425631"	"subst"	"0"	"02329"	"TTLL5_000075"	"g.76425631G>A"	""	""	""	"TGFB3(NM_001329939.1):c.1138C>T (p.P380S), TGFB3(NM_003239.2):c.1138C>T (p.P380S), TGFB3(NM_003239.5):c.1138C>T (p.P380S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981013"	"0"	"30"	"14"	"76173963"	"76173963"	"del"	"0"	"01804"	"TTLL5_000015"	"g.76173963del"	""	""	""	"TTLL5(NM_015072.5):c.656-3del, TTLL5(NM_015072.5):c.656-3delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000986595"	"1"	"90"	"14"	"76147917"	"76147917"	"subst"	"8.142E-6"	"04405"	"TTLL5_000092"	"g.76147917C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75681574C>T"	""	"pathogenic"	"ACMG"
"0000986596"	"3"	"50"	"14"	"76211466"	"76211466"	"subst"	"6.91046E-5"	"04405"	"TTLL5_000126"	"g.76211466C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75745123C>T"	""	"VUS"	"ACMG"
"0000986597"	"1"	"50"	"14"	"76149902"	"76149902"	"subst"	"5.28709E-5"	"04405"	"TTLL5_000123"	"g.76149902A>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75683559A>G"	""	"VUS"	"ACMG"
"0000986598"	"1"	"50"	"14"	"76219261"	"76219261"	"subst"	"4.47184E-5"	"04405"	"TTLL5_000129"	"g.76219261A>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75752918A>G"	""	"VUS"	"ACMG"
"0000986599"	"1"	"50"	"14"	"76173400"	"76173400"	"subst"	"3.66241E-5"	"04405"	"TTLL5_000099"	"g.76173400C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75707057C>T"	""	"VUS"	"ACMG"
"0000986600"	"3"	"50"	"14"	"76211869"	"76211869"	"subst"	"2.84329E-5"	"04405"	"TTLL5_000127"	"g.76211869C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75745526C>T"	""	"VUS"	"ACMG"
"0000986601"	"3"	"90"	"14"	"76249777"	"76249777"	"subst"	"8.12447E-6"	"04405"	"TTLL5_000131"	"g.76249777C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75783434C>T"	""	"pathogenic"	"ACMG"
"0000986602"	"1"	"70"	"14"	"76173392"	"76173392"	"del"	"0"	"04405"	"TTLL5_000124"	"g.76173392del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75707049del"	""	"likely pathogenic"	"ACMG"
"0000986603"	"3"	"50"	"14"	"76129517"	"76129517"	"subst"	"2.4486E-5"	"04405"	"TTLL5_000122"	"g.76129517C>G"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75663174C>G"	""	"VUS"	"ACMG"
"0000986604"	"3"	"90"	"14"	"76238198"	"76238198"	"subst"	"0"	"04405"	"TTLL5_000076"	"g.76238198G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75771855G>A"	""	"pathogenic"	"ACMG"
"0000986605"	"3"	"50"	"14"	"76211887"	"76211887"	"subst"	"1.62473E-5"	"04405"	"TTLL5_000113"	"g.76211887C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75745544C>T"	""	"VUS"	"ACMG"
"0000986606"	"1"	"70"	"14"	"76184205"	"76184305"	"del"	"0"	"04405"	"TTLL5_000125"	"g.76184205_76184305del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75717862_75717962del"	""	"likely pathogenic"	"ACMG"
"0000986961"	"2"	"70"	"14"	"76231034"	"76231034"	"subst"	"0.000243964"	"04405"	"TTLL5_000006"	"g.76231034G>A"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75764691G>A"	""	"likely pathogenic"	"ACMG"
"0000986962"	"2"	"50"	"14"	"76330188"	"76330205"	"del"	"0"	"04405"	"TTLL5_000133"	"g.76330188_76330205del"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75863845_75863862del"	""	"VUS"	"ACMG"
"0000986963"	"2"	"70"	"14"	"76259402"	"76259402"	"subst"	"0"	"04405"	"TTLL5_000132"	"g.76259402C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75793059C>T"	""	"likely pathogenic"	"ACMG"
"0000986964"	"2"	"90"	"14"	"76211872"	"76211872"	"subst"	"2.4371E-5"	"04405"	"TTLL5_000128"	"g.76211872C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75745529C>T"	""	"pathogenic"	"ACMG"
"0000986965"	"2"	"90"	"14"	"76211845"	"76211845"	"subst"	"1.21922E-5"	"04405"	"TTLL5_000066"	"g.76211845C>T"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75745502C>T"	""	"pathogenic"	"ACMG"
"0000986966"	"2"	"50"	"14"	"76238100"	"76238101"	"delins"	"0"	"04405"	"TTLL5_000130"	"g.76238100_76238101delinsAA"	""	"{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75771757_75771758delinsAA"	""	"VUS"	"ACMG"
"0001015172"	"0"	"50"	"14"	"76165590"	"76165590"	"subst"	"0.000191295"	"02330"	"TTLL5_000134"	"g.76165590C>T"	""	""	""	"TTLL5(NM_015072.5):c.562C>T (p.R188W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001015173"	"0"	"50"	"14"	"76219277"	"76219277"	"subst"	"0"	"02330"	"TTLL5_000135"	"g.76219277C>A"	""	""	""	"TTLL5(NM_015072.5):c.1529C>A (p.A510E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001019633"	"3"	"90"	"14"	"76244001"	"76246900"	"del"	"0"	"00006"	"TTLL5_000136"	"g.76244001_76246900del"	""	"{PMID:Wen 2023:36811936}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.75777658_75780557del"	""	"pathogenic (recessive)"	""
"0001026404"	"0"	"50"	"14"	"76425703"	"76425705"	"del"	"0"	"02329"	"TTLL5_000137"	"g.76425703_76425705del"	""	""	""	"TGFB3(NM_003239.5):c.1081-17_1081-15delGAC"	"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 TTLL5
## Count = 182
"{{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}}"
"0000005390"	"00001283"	"50"	"3327"	"-20985"	"3327"	"-20985"	"c.3327-20985G>A"	"r.(=)"	"p.(=)"	"28i"
"0000036382"	"00001283"	"95"	"1586"	"0"	"1589"	"0"	"c.1586_1589del"	"r.(?)"	"p.(Glu529Valfs*2)"	"19"
"0000036383"	"00001283"	"95"	"401"	"0"	"401"	"0"	"c.401del"	"r.(?)"	"p.(Leu134Argfs*45)"	"6"
"0000036384"	"00001283"	"95"	"3354"	"0"	"3354"	"0"	"c.3354G>A"	"r.(?)"	"p.(Trp1118*)"	"29"
"0000036385"	"00001283"	"95"	"1627"	"0"	"1627"	"0"	"c.1627G>T"	"r.(?)"	"p.(Glu543*)"	"19"
"0000036386"	"00001283"	"75"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Glu543Lys)"	"19"
"0000247256"	"00001283"	"10"	"2637"	"0"	"2637"	"0"	"c.2637A>C"	"r.(?)"	"p.(Leu879Phe)"	""
"0000247276"	"00001283"	"30"	"2057"	"0"	"2057"	"0"	"c.2057A>G"	"r.(?)"	"p.(His686Arg)"	""
"0000247291"	"00001283"	"50"	"824"	"0"	"824"	"0"	"c.824A>G"	"r.(?)"	"p.(Lys275Arg)"	""
"0000254350"	"00001283"	"30"	"1781"	"0"	"1781"	"0"	"c.1781A>G"	"r.(?)"	"p.(Asp594Gly)"	""
"0000255044"	"00001283"	"30"	"36"	"0"	"36"	"0"	"c.36A>G"	"r.(?)"	"p.(Thr12=)"	""
"0000256461"	"00001283"	"50"	"1255"	"0"	"1255"	"0"	"c.1255A>G"	"r.(?)"	"p.(Arg419Gly)"	""
"0000256500"	"00001283"	"50"	"8604"	"0"	"8604"	"0"	"c.*4758A>C"	"r.(=)"	"p.(=)"	""
"0000309718"	"00001283"	"50"	"1327"	"0"	"1327"	"0"	"c.1327G>A"	"r.(?)"	"p.(Val443Met)"	""
"0000309719"	"00001283"	"10"	"1389"	"0"	"1389"	"0"	"c.1389G>T"	"r.(?)"	"p.(Met463Ile)"	""
"0000309721"	"00001283"	"10"	"1487"	"24"	"1487"	"24"	"c.1487+24dup"	"r.(=)"	"p.(=)"	""
"0000309722"	"00001283"	"10"	"1576"	"0"	"1576"	"0"	"c.1576T>C"	"r.(?)"	"p.(Leu526=)"	""
"0000309723"	"00001283"	"30"	"1653"	"0"	"1653"	"0"	"c.1653G>A"	"r.(?)"	"p.(Val551=)"	""
"0000309724"	"00001283"	"10"	"1773"	"0"	"1773"	"0"	"c.1773C>T"	"r.(?)"	"p.(Val591=)"	""
"0000309725"	"00001283"	"30"	"1963"	"0"	"1963"	"0"	"c.1963C>T"	"r.(?)"	"p.(Leu655=)"	""
"0000309727"	"00001283"	"10"	"2891"	"0"	"2891"	"0"	"c.2891G>A"	"r.(?)"	"p.(Arg964Gln)"	""
"0000309728"	"00001283"	"10"	"2987"	"-10"	"2987"	"-10"	"c.2987-10G>A"	"r.(=)"	"p.(=)"	""
"0000309729"	"00001283"	"50"	"3089"	"0"	"3089"	"0"	"c.3089C>T"	"r.(?)"	"p.(Thr1030Ile)"	""
"0000309730"	"00001283"	"50"	"3498"	"0"	"3502"	"0"	"c.3498_3502del"	"r.(?)"	"p.(Asp1167GlufsTer16)"	""
"0000309731"	"00001283"	"10"	"3523"	"-5"	"3523"	"-5"	"c.3523-5dup"	"r.spl?"	"p.?"	""
"0000309732"	"00001283"	"10"	"3523"	"-5"	"3523"	"-5"	"c.3523-5del"	"r.spl?"	"p.?"	""
"0000309734"	"00001283"	"10"	"3544"	"0"	"3544"	"0"	"c.3544C>T"	"r.(?)"	"p.(Leu1182=)"	""
"0000309735"	"00001283"	"10"	"375"	"0"	"375"	"0"	"c.375T>A"	"r.(?)"	"p.(Ser125=)"	""
"0000309736"	"00001283"	"10"	"585"	"10"	"585"	"10"	"c.585+10C>G"	"r.(=)"	"p.(=)"	""
"0000309737"	"00001283"	"30"	"609"	"0"	"609"	"0"	"c.609G>C"	"r.(?)"	"p.(Glu203Asp)"	""
"0000309738"	"00001283"	"10"	"624"	"0"	"624"	"0"	"c.624C>A"	"r.(?)"	"p.(Ser208=)"	""
"0000309739"	"00001283"	"10"	"656"	"-3"	"656"	"-3"	"c.656-3dup"	"r.spl?"	"p.?"	""
"0000309740"	"00001283"	"10"	"656"	"-3"	"656"	"-3"	"c.656-3del"	"r.spl?"	"p.?"	""
"0000309742"	"00001283"	"10"	"934"	"10"	"934"	"10"	"c.934+10G>A"	"r.(=)"	"p.(=)"	""
"0000313289"	"00001283"	"70"	"8747"	"0"	"8747"	"0"	"c.*4901T>A"	"r.(=)"	"p.(=)"	""
"0000313290"	"00001283"	"10"	"8704"	"0"	"8704"	"0"	"c.*4858G>C"	"r.(=)"	"p.(=)"	""
"0000318057"	"00001283"	"30"	"1773"	"0"	"1773"	"0"	"c.1773C>G"	"r.(?)"	"p.(Val591=)"	""
"0000318058"	"00001283"	"50"	"1852"	"0"	"1852"	"0"	"c.1852T>C"	"r.(?)"	"p.(Tyr618His)"	""
"0000318059"	"00001283"	"30"	"1963"	"0"	"1963"	"0"	"c.1963C>T"	"r.(?)"	"p.(Leu655=)"	""
"0000318060"	"00001283"	"30"	"2603"	"-3"	"2603"	"-3"	"c.2603-3T>C"	"r.spl?"	"p.?"	""
"0000318061"	"00001283"	"30"	"2815"	"0"	"2815"	"0"	"c.2815G>A"	"r.(?)"	"p.(Val939Ile)"	""
"0000318062"	"00001283"	"50"	"297"	"0"	"297"	"0"	"c.297G>A"	"r.(?)"	"p.(Met99Ile)"	""
"0000318063"	"00001283"	"50"	"3785"	"0"	"3785"	"0"	"c.3785T>C"	"r.(?)"	"p.(Leu1262Pro)"	""
"0000323768"	"00001283"	"30"	"2603"	"-3"	"2603"	"-3"	"c.2603-3T>C"	"r.spl?"	"p.?"	""
"0000342845"	"00001283"	"50"	"1226"	"0"	"1226"	"0"	"c.1226G>A"	"r.(?)"	"p.(Arg409Gln)"	""
"0000351365"	"00001283"	"90"	"1487"	"1"	"1487"	"1"	"c.1487+1G>A"	"r.spl?"	"p.?"	""
"0000553060"	"00001283"	"50"	"377"	"0"	"377"	"0"	"c.377A>C"	"r.(?)"	"p.(Tyr126Ser)"	""
"0000553062"	"00001283"	"50"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Val224Met)"	""
"0000553063"	"00001283"	"50"	"756"	"0"	"756"	"0"	"c.756A>G"	"r.(?)"	"p.(Arg252=)"	""
"0000553064"	"00001283"	"50"	"986"	"0"	"986"	"0"	"c.986A>G"	"r.(?)"	"p.(Glu329Gly)"	""
"0000553065"	"00001283"	"10"	"1186"	"14"	"1186"	"14"	"c.1186+14T>G"	"r.(=)"	"p.(=)"	""
"0000553066"	"00001283"	"30"	"1187"	"-8"	"1187"	"-8"	"c.1187-8C>T"	"r.(=)"	"p.(=)"	""
"0000553067"	"00001283"	"30"	"1187"	"-7"	"1187"	"-7"	"c.1187-7C>G"	"r.(=)"	"p.(=)"	""
"0000553068"	"00001283"	"30"	"1226"	"0"	"1226"	"0"	"c.1226G>A"	"r.(?)"	"p.(Arg409Gln)"	""
"0000553069"	"00001283"	"50"	"1226"	"0"	"1226"	"0"	"c.1226G>A"	"r.(?)"	"p.(Arg409Gln)"	""
"0000553070"	"00001283"	"10"	"1326"	"0"	"1326"	"0"	"c.1326C>T"	"r.(?)"	"p.(Leu442=)"	""
"0000553071"	"00001283"	"30"	"1326"	"0"	"1326"	"0"	"c.1326C>T"	"r.(?)"	"p.(Leu442=)"	""
"0000553072"	"00001283"	"30"	"1773"	"0"	"1773"	"0"	"c.1773C>T"	"r.(?)"	"p.(Val591=)"	""
"0000553073"	"00001283"	"50"	"1903"	"0"	"1903"	"0"	"c.1903A>G"	"r.(?)"	"p.(Met635Val)"	""
"0000553074"	"00001283"	"50"	"1981"	"0"	"1981"	"0"	"c.1981C>G"	"r.(?)"	"p.(Leu661Val)"	""
"0000553075"	"00001283"	"30"	"2137"	"-12"	"2137"	"-12"	"c.2137-12T>C"	"r.(=)"	"p.(=)"	""
"0000553076"	"00001283"	"50"	"2334"	"0"	"2342"	"0"	"c.2334_2342del"	"r.(?)"	"p.(Glu778_Glu780del)"	""
"0000553077"	"00001283"	"30"	"2382"	"0"	"2382"	"0"	"c.2382A>G"	"r.(?)"	"p.(Gln794=)"	""
"0000553078"	"00001283"	"10"	"2603"	"-3"	"2603"	"-3"	"c.2603-3T>C"	"r.spl?"	"p.?"	""
"0000553079"	"00001283"	"50"	"2950"	"0"	"2950"	"0"	"c.2950A>T"	"r.(?)"	"p.(Ser984Cys)"	""
"0000553080"	"00001283"	"10"	"2970"	"0"	"2970"	"0"	"c.2970C>G"	"r.(?)"	"p.(Pro990=)"	""
"0000553081"	"00001283"	"10"	"3264"	"0"	"3264"	"0"	"c.3264G>A"	"r.(?)"	"p.(Pro1088=)"	""
"0000553082"	"00001283"	"30"	"3522"	"7"	"3522"	"7"	"c.3522+7C>G"	"r.(=)"	"p.(=)"	""
"0000553083"	"00001283"	"30"	"3544"	"0"	"3544"	"0"	"c.3544C>T"	"r.(?)"	"p.(Leu1182=)"	""
"0000553084"	"00001283"	"50"	"3785"	"0"	"3785"	"0"	"c.3785T>C"	"r.(?)"	"p.(Leu1262Pro)"	""
"0000553085"	"00001283"	"50"	"8651"	"0"	"8651"	"0"	"c.*4805A>G"	"r.(=)"	"p.(=)"	""
"0000615094"	"00001283"	"50"	"185"	"0"	"185"	"0"	"c.185G>T"	"r.(?)"	"p.(Arg62Leu)"	""
"0000615095"	"00001283"	"50"	"670"	"0"	"670"	"0"	"c.670G>A"	"r.(?)"	"p.(Val224Met)"	""
"0000615096"	"00001283"	"50"	"1060"	"0"	"1060"	"0"	"c.1060G>A"	"r.(?)"	"p.(Val354Met)"	""
"0000615097"	"00001283"	"70"	"1408"	"0"	"1408"	"0"	"c.1408C>T"	"r.(?)"	"p.(Arg470Ter)"	""
"0000615098"	"00001283"	"50"	"3145"	"0"	"3145"	"0"	"c.3145A>G"	"r.(?)"	"p.(Ser1049Gly)"	""
"0000623166"	"00001283"	"90"	"2425"	"0"	"2425"	"0"	"c.2425C>T"	"r.(?)"	"p.(Gln809Ter)"	""
"0000623167"	"00001283"	"50"	"8092"	"0"	"8092"	"0"	"c.*4246G>A"	"r.(=)"	"p.(=)"	""
"0000623168"	"00001283"	"30"	"8596"	"0"	"8596"	"0"	"c.*4750T>C"	"r.(=)"	"p.(=)"	""
"0000623169"	"00001283"	"30"	"8641"	"0"	"8641"	"0"	"c.*4795G>A"	"r.(=)"	"p.(=)"	""
"0000657489"	"00001283"	"30"	"92"	"0"	"92"	"0"	"c.92T>C"	"r.(?)"	"p.(Met31Thr)"	""
"0000657490"	"00001283"	"30"	"513"	"0"	"513"	"0"	"c.513G>A"	"r.(?)"	"p.(Ser171=)"	""
"0000657491"	"00001283"	"90"	"2132"	"0"	"2135"	"0"	"c.2132_2135dup"	"r.(?)"	"p.(Met712IlefsTer15)"	""
"0000660685"	"00001283"	"70"	"2132"	"0"	"2135"	"0"	"c.2132_2135dup"	"r.(?)"	"p.(Met712Ilefs*15)"	""
"0000680049"	"00001283"	"50"	"1187"	"-8"	"1187"	"-8"	"c.1187-8C>T"	"r.(=)"	"p.(=)"	""
"0000680050"	"00001283"	"50"	"1187"	"-7"	"1187"	"-7"	"c.1187-7C>G"	"r.(=)"	"p.(=)"	""
"0000680051"	"00001283"	"50"	"2230"	"0"	"2230"	"0"	"c.2230C>T"	"r.(?)"	"p.(Arg744Cys)"	""
"0000680052"	"00001283"	"50"	"8688"	"0"	"8688"	"0"	"c.*4842G>A"	"r.(=)"	"p.(=)"	""
"0000685497"	"00001283"	"90"	"2136"	"1"	"2136"	"1"	"c.2136+1G>A"	"r.spl"	"p.?"	""
"0000701821"	"00001283"	"50"	"568"	"0"	"568"	"0"	"c.568G>A"	"r.(?)"	"p.(Val190Ile)"	""
"0000701822"	"00001283"	"70"	"2162"	"0"	"2162"	"0"	"c.2162G>A"	"r.(?)"	"p.(Arg721Gln)"	""
"0000713980"	"00001283"	"70"	"3177"	"0"	"3180"	"0"	"c.3177_3180del"	"r.(?)"	"p.(Asn1060*)"	""
"0000724868"	"00001283"	"30"	"781"	"0"	"781"	"0"	"c.781C>T"	"r.(?)"	"p.(Arg261Trp)"	""
"0000724869"	"00001283"	"50"	"1289"	"0"	"1289"	"0"	"c.1289G>A"	"r.(?)"	"p.(Arg430His)"	""
"0000724870"	"00001283"	"70"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Glu543Lys)"	""
"0000724871"	"00001283"	"90"	"3508"	"0"	"3508"	"0"	"c.3508C>T"	"r.(?)"	"p.(Arg1170*)"	""
"0000724872"	"00001283"	"50"	"3755"	"0"	"3755"	"0"	"c.3755A>G"	"r.(?)"	"p.(Glu1252Gly)"	""
"0000735676"	"00001283"	"90"	"1487"	"1"	"1487"	"1"	"c.1487+1G>A"	"r.spl"	"p.?"	""
"0000735773"	"00001283"	"90"	"1487"	"1"	"1487"	"1"	"c.1487+1G>A"	"r.spl"	"p.?"	""
"0000759967"	"00001283"	"50"	"2950"	"0"	"2950"	"0"	"c.2950A>T"	"r.(?)"	"p.(Ser984Cys)"	""
"0000764123"	"00001283"	"30"	"585"	"1089"	"585"	"1089"	"c.585+1089C>T"	"r.?"	"p.?"	"i7"
"0000793782"	"00001283"	"70"	"3177"	"0"	"3180"	"0"	"c.3177_3180del"	"r.(?)"	"p.(Asn1060*)"	"28"
"0000806497"	"00001283"	"50"	"741"	"-1"	"741"	"-1"	"c.741-1G>A"	"r.spl?"	"p.?"	""
"0000806498"	"00001283"	"90"	"1110"	"0"	"1111"	"0"	"c.1110_1111del"	"r.(?)"	"p.(Pro371Phefs*5)"	""
"0000806499"	"00001283"	"90"	"1312"	"0"	"1312"	"0"	"c.1312G>T"	"r.(?)"	"p.(Glu438*)"	""
"0000806500"	"00001283"	"30"	"2891"	"0"	"2891"	"0"	"c.2891G>A"	"r.(?)"	"p.(Arg964Gln)"	""
"0000806501"	"00001283"	"30"	"3264"	"0"	"3264"	"0"	"c.3264G>A"	"r.(?)"	"p.(Pro1088=)"	""
"0000806502"	"00001283"	"50"	"3691"	"0"	"3691"	"0"	"c.3691C>T"	"r.(?)"	"p.(Pro1231Ser)"	""
"0000806503"	"00001283"	"50"	"8688"	"0"	"8688"	"0"	"c.*4842G>A"	"r.(=)"	"p.(=)"	""
"0000811854"	"00001283"	"70"	"2160"	"0"	"2160"	"0"	"c.2160G>T"	"r.(?)"	"p.(Lys720Asn)"	""
"0000811894"	"00001283"	"70"	"2159"	"0"	"2159"	"0"	"c.2159A>T"	"r.(?)"	"p.(Lys720Met)"	""
"0000815621"	"00001283"	"50"	"2966"	"0"	"2966"	"0"	"c.2966G>A"	"r.(?)"	"p.(Arg989His)"	""
"0000816094"	"00001283"	"90"	"211"	"0"	"211"	"0"	"c.211C>T"	"r.(?)"	"p.(Arg71*)"	""
"0000816419"	"00001283"	"70"	"260"	"0"	"261"	"0"	"c.260_261dup"	"r.(?)"	"p.(Glu88Metfs*12)"	""
"0000819524"	"00001283"	"70"	"1560"	"0"	"1560"	"0"	"c.1560dup"	"r.(?)"	"p.(Asp521*)"	""
"0000820022"	"00001283"	"70"	"741"	"-1"	"1281"	"1"	"c.(740+1_741-1)_(1281+1_1282-1)del"	"r.spl"	"p.(?)"	""
"0000820257"	"00001283"	"70"	"630"	"0"	"630"	"0"	"c.630C>A"	"r.(?)"	"p.(Tyr210*)"	""
"0000820402"	"00001283"	"70"	"211"	"0"	"211"	"0"	"c.211C>T"	"r.(?)"	"p.(Arg71*)"	""
"0000820900"	"00001283"	"70"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Glu543Lys)"	""
"0000822951"	"00001283"	"70"	"0"	"0"	"0"	"0"	"c.?"	"r.spl"	"p.(?)"	""
"0000824789"	"00001283"	"50"	"1451"	"0"	"1451"	"0"	"c.1451G>T"	"r.(?)"	"p.(Arg484Leu)"	""
"0000827000"	"00001283"	"50"	"94"	"0"	"94"	"0"	"c.94T>A"	"r.(?)"	"p.(Trp32Arg)"	""
"0000827001"	"00001283"	"50"	"143"	"0"	"143"	"0"	"c.143C>A"	"r.(?)"	"p.(Ala48Asp)"	""
"0000827002"	"00001283"	"50"	"625"	"0"	"625"	"0"	"c.625C>T"	"r.(?)"	"p.(Arg209Cys)"	""
"0000828771"	"00001283"	"90"	"2212"	"0"	"2212"	"0"	"c.2212C>T"	"r.(?)"	"p.(Arg738*)"	""
"0000828772"	"00001283"	"50"	"1103"	"0"	"1103"	"0"	"c.1103A>C"	"r.(?)"	"p.(Asn368Thr)"	""
"0000828976"	"00001283"	"90"	"3177"	"0"	"3180"	"0"	"c.3177_3180del"	"r.(?)"	"p.(Asn1060*)"	""
"0000828977"	"00001283"	"90"	"3177"	"0"	"3180"	"0"	"c.3177_3180del"	"r.(?)"	"p.(Asn1060*)"	""
"0000853890"	"00001283"	"50"	"587"	"0"	"587"	"0"	"c.587C>T"	"r.(?)"	"p.(Pro196Leu)"	""
"0000853891"	"00001283"	"30"	"3327"	"-7"	"3327"	"-3"	"c.3327-7_3327-3del"	"r.spl?"	"p.?"	""
"0000863679"	"00001283"	"30"	"2439"	"0"	"2439"	"0"	"c.2439T>G"	"r.(?)"	"p.(Ser813=)"	""
"0000872838"	"00001283"	"90"	"182"	"-3"	"182"	"-1"	"c.182-3_182-1delinsAA"	"r.spl?"	"p.?"	"3i"
"0000872839"	"00001283"	"90"	"1782"	"0"	"1782"	"0"	"c.1782del"	"r.(?)"	"p.(Asp594Glufs*29)"	"20"
"0000872840"	"00001283"	"90"	"349"	"0"	"349"	"0"	"c.349C>T"	"r.(?)"	"p.(Gln117*)"	"5"
"0000872841"	"00001283"	"90"	"2132"	"0"	"2133"	"0"	"c.2132_2133insGATA"	"r.(?)"	"p.(Met712Ilefs*15)"	"21"
"0000872842"	"00001283"	"90"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Glu543Lys)"	"19"
"0000872843"	"00001283"	"90"	"2266"	"0"	"2266"	"0"	"c.2266A>T"	"r.(?)"	"p.(Ile756Phe)"	"22"
"0000872844"	"00001283"	"90"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Glu543Lys)"	"19"
"0000872845"	"00001283"	"90"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Glu543Lys)"	"19"
"0000872846"	"00001283"	"90"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Glu543Lys)"	"19"
"0000891893"	"00001283"	"50"	"1462"	"0"	"1462"	"0"	"c.1462A>G"	"r.(?)"	"p.(Thr488Ala)"	""
"0000891894"	"00001283"	"50"	"3145"	"0"	"3145"	"0"	"c.3145A>G"	"r.(?)"	"p.(Ser1049Gly)"	""
"0000891895"	"00001283"	"30"	"3187"	"0"	"3187"	"0"	"c.3187T>C"	"r.(?)"	"p.(Leu1063=)"	""
"0000891896"	"00001283"	"30"	"3498"	"0"	"3498"	"0"	"c.3498G>C"	"r.(?)"	"p.(Leu1166=)"	""
"0000896678"	"00001283"	"50"	"1103"	"0"	"1103"	"0"	"c.1103A>C"	"r.(?)"	"p.(Asn368Thr)"	""
"0000896679"	"00001283"	"90"	"3177"	"0"	"3180"	"0"	"c.3177_3180delAAAC"	"r.(?)"	"p.(Asn1060Ter)"	""
"0000896715"	"00001283"	"90"	"2212"	"0"	"2212"	"0"	"c.2212C>T"	"r.(?)"	"p.(Arg738Ter)"	""
"0000896716"	"00001283"	"90"	"3177"	"0"	"3180"	"0"	"c.3177_3180delAAAC"	"r.(?)"	"p.(Asn1060Ter)"	""
"0000905947"	"00001283"	"50"	"1450"	"0"	"1450"	"0"	"c.1450C>T"	"r.(?)"	"p.(Arg484Cys)"	""
"0000925916"	"00001283"	"30"	"1124"	"14"	"1124"	"14"	"c.1124+14A>G"	"r.(=)"	"p.(=)"	""
"0000950290"	"00001283"	"30"	"3667"	"0"	"3667"	"0"	"c.3667G>T"	"r.(?)"	"p.(Ala1223Ser)"	""
"0000950291"	"00001283"	"30"	"8596"	"0"	"8596"	"0"	"c.*4750T>C"	"r.(=)"	"p.(=)"	""
"0000955406"	"00001283"	"90"	"3508"	"0"	"3508"	"0"	"c.3508C>T"	"r.(?)"	"p.(Arg1170*)"	""
"0000955407"	"00001283"	"70"	"2387"	"135"	"2986"	"1811"	"c.2387+135_2986+1811del"	"r.(?)"	"p.(Ser796Argfs*26)"	"23i_26i"
"0000959250"	"00001283"	"70"	"2368"	"0"	"2368"	"0"	"c.2368G>T"	"r.(?)"	"p.(Glu790Ter)"	""
"0000959324"	"00001283"	"70"	"181"	"1"	"181"	"1"	"c.181+1G>A"	"r.spl"	"p.?"	""
"0000967551"	"00001283"	"30"	"2137"	"-17"	"2137"	"-17"	"c.2137-17G>A"	"r.(=)"	"p.(=)"	""
"0000967557"	"00001283"	"30"	"3824"	"-2"	"3824"	"-2"	"c.3824-2A>G"	"r.spl?"	"p.?"	""
"0000967558"	"00001283"	"50"	"8688"	"0"	"8688"	"0"	"c.*4842G>A"	"r.(=)"	"p.(=)"	""
"0000981013"	"00001283"	"30"	"656"	"-3"	"656"	"-3"	"c.656-3del"	"r.spl?"	"p.?"	""
"0000986595"	"00001283"	"90"	"211"	"0"	"211"	"0"	"c.211C>T"	"r.(?)"	"p.(Arg71Ter)"	"4"
"0000986596"	"00001283"	"50"	"1310"	"0"	"1310"	"0"	"c.1310C>T"	"r.(?)"	"p.(Ala437Val)"	"16"
"0000986597"	"00001283"	"50"	"274"	"0"	"274"	"0"	"c.274A>G"	"r.(?)"	"p.(Ser92Gly)"	"5"
"0000986598"	"00001283"	"50"	"1513"	"0"	"1513"	"0"	"c.1513A>G"	"r.(?)"	"p.(Met505Val)"	"18"
"0000986599"	"00001283"	"50"	"625"	"0"	"625"	"0"	"c.625C>T"	"r.(?)"	"p.(Arg209Cys)"	"8"
"0000986600"	"00001283"	"50"	"1432"	"0"	"1432"	"0"	"c.1432C>T"	"r.(?)"	"p.(Arg478Trp)"	"17"
"0000986601"	"00001283"	"90"	"2890"	"0"	"2890"	"0"	"c.2890C>T"	"r.(?)"	"p.(Arg964Ter)"	"26"
"0000986602"	"00001283"	"70"	"617"	"0"	"617"	"0"	"c.617del"	"r.(?)"	"p.(Leu206TrpfsTer12)"	"8"
"0000986603"	"00001283"	"50"	"25"	"0"	"25"	"0"	"c.25C>G"	"r.(?)"	"p.(Leu9Val)"	"2"
"0000986604"	"00001283"	"90"	"2136"	"1"	"2136"	"1"	"c.2136+1G>A"	"r.spl"	"p.?"	"21i"
"0000986605"	"00001283"	"50"	"1450"	"0"	"1450"	"0"	"c.1450C>T"	"r.(?)"	"p.(Arg484Cys)"	"17"
"0000986606"	"00001283"	"70"	"742"	"0"	"842"	"0"	"c.742_842del"	"r.(?)"	"p.(Phe248LeufsTer2)"	"10"
"0000986961"	"00001283"	"70"	"1627"	"0"	"1627"	"0"	"c.1627G>A"	"r.(?)"	"p.(Glu543Lys)"	"19"
"0000986962"	"00001283"	"50"	"3505"	"0"	"3522"	"0"	"c.3505_3522del"	"r.(?)"	"p.(Ser1169_Gln1174del)"	"29"
"0000986963"	"00001283"	"70"	"3130"	"0"	"3130"	"0"	"c.3130C>T"	"r.(?)"	"p.(Gln1044Ter)"	"27"
"0000986964"	"00001283"	"90"	"1435"	"0"	"1435"	"0"	"c.1435C>T"	"r.(?)"	"p.(Arg479Ter)"	"17"
"0000986965"	"00001283"	"90"	"1408"	"0"	"1408"	"0"	"c.1408C>T"	"r.(?)"	"p.(Arg470Ter)"	"17"
"0000986966"	"00001283"	"50"	"2039"	"0"	"2040"	"0"	"c.2039_2040delinsAA"	"r.(?)"	"p.(Phe680Ter)"	"21"
"0001015172"	"00001283"	"50"	"562"	"0"	"562"	"0"	"c.562C>T"	"r.(?)"	"p.(Arg188Trp)"	""
"0001015173"	"00001283"	"50"	"1529"	"0"	"1529"	"0"	"c.1529C>A"	"r.(?)"	"p.(Ala510Glu)"	""
"0001019633"	"00001283"	"90"	"2387"	"808"	"2515"	"855"	"c.2387+808_2515+855del"	"r.(2388_2515del)"	"p.(Ser796ArgfsTer4)"	""
"0001026404"	"00001283"	"50"	"8760"	"0"	"8762"	"0"	"c.*4914_*4916del"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 72
"{{screeningid}}"	"{{variantid}}"
"0000000209"	"0000005390"
"0000016534"	"0000036382"
"0000016535"	"0000036383"
"0000016535"	"0000036384"
"0000016536"	"0000036385"
"0000016537"	"0000036386"
"0000297976"	"0000660685"
"0000310586"	"0000685497"
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