### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IFT140) # 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}}" "IFT140" "intraflagellar transport 140 homolog (Chlamydomonas)" "16" "p13.3" "unknown" "NG_032783.1" "UD_132378478577" "" "https://www.LOVD.nl/IFT140" "" "1" "29077" "9742" "614620" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/IFT140_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2012-06-04 00:00:00" "00006" "2017-07-04 17:17:38" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00009860" "IFT140" "intraflagellar transport 140 homolog (Chlamydomonas)" "001" "NM_014714.3" "" "NP_055529.2" "" "" "" "-362" "4906" "4389" "1662109" "1560428" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00112" "RP" "retinitis pigmentosa (RP)" "" "268000" "" "" "" "00001" "2013-02-21 17:12:36" "00006" "2021-01-18 09:53:26" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00379" "SRTD1" "dysplasia, short-rib thoracic, type 1, with/without polydactyly (SRTD-1, dystrophy, asphyxiating thoracic; Jeune syndrome)" "" "208500" "" "" "" "00006" "2014-05-02 10:26:00" "00006" "2021-12-10 21:51:32" "00381" "RD" "dystrophy, retinal (RD)" "" "" "" "" "" "00006" "2014-05-09 11:59:52" "00006" "2015-12-07 07:11:25" "00715" "SRTD9;MZSDS" "dysplasia, short-rib thoracic, type 9, with/without polydactyly (SRTD9);syndrome, Mainzer-Saldino (MZSDS)" "AR" "266920" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05635" "SRTD" "dysplasia, short-rib thoracic, with/without polydactyly (SRTD) (Jeune syndrome)" "" "" "" "" "" "00006" "2019-07-28 13:54:33" "" "" "05725" "RP80" "retinitis pigmentosa, type 80 (RP80)" "AR" "617781" "" "" "" "00006" "2020-04-10 19:43:17" "" "" "06890" "hamartoma" "hamartoma, hypothalamic" "" "" "" "" "" "00006" "2022-01-13 11:57:49" "" "" "06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IFT140" "00715" "IFT140" "05725" ## Individuals ## Do not remove or alter this header ## ## Count = 173 "{{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}}" "00107873" "" "" "" "1" "" "00041" "{PMID:Schmidts 2013:23418020}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Germany" "" "0" "" "" "" "MSS2" "00107874" "" "" "" "1" "" "00041" "{PMID:Schmidts 2013:23418020}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "JATD3" "00107875" "" "" "" "1" "" "00041" "{PMID:Schmidts 2013:23418020}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Serbia" "" "0" "" "" "" "JATD1" "00107876" "" "" "" "1" "" "00041" "{PMID:Schmidts 2013:23418020}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Serbia" "" "0" "" "" "" "JATD2" "00107877" "" "" "" "1" "" "00041" "{PMID:Schmidts 2013:23418020}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Lithuania" "" "0" "" "" "" "JATD5" "00107878" "" "" "" "1" "" "00041" "{PMID:Schmidts 2013:23418020}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Germany" "" "0" "" "" "" "MSS1" "00164426" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00233301" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233302" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233303" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233304" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233305" "" "" "" "18" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233306" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233307" "" "" "" "24" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233308" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233309" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233310" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233311" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233312" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233313" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233314" "" "" "" "297" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233315" "" "" "" "81" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233316" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233317" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233318" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233319" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233320" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233321" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233322" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233323" "" "" "" "9" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233324" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233325" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233326" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233327" "" "" "" "12" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233328" "" "" "" "5" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233329" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233330" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233331" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233332" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233333" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233334" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233335" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233336" "" "" "" "262" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233337" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233338" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233339" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233340" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233341" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233342" "" "" "" "110" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233343" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233344" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233345" "" "" "" "48" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233346" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233347" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233348" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233349" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233350" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233351" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233352" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233353" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1202 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233784" "" "" "" "24" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233785" "" "" "" "11" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233786" "" "" "" "6" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233787" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1203 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00240443" "" "" "" "1" "" "03335" "" "" "F" "" "Mexico" "" "0" "" "" "" "" "00240444" "" "" "" "1" "" "03335" "" "" "M" "" "Mexico" "" "0" "" "" "" "" "00291375" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291376" "" "" "" "247" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291384" "" "" "" "186" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291395" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00299670" "" "" "" "1" "" "00006" "{PMID:Xu 2015:26216056}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "Han Chinese" "SRF71" "00299671" "" "" "" "1" "" "00006" "{PMID:Xu 2015:26216056}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "Han Chinese" "SRF964" "00299672" "" "" "" "1" "" "00006" "{PMID:Xu 2015:26216056}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "Han Chinese" "SRF1186" "00299673" "" "" "" "1" "" "00006" "{PMID:Xu 2015:26216056}" "2-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "white" "EG3" "00299674" "" "" "" "1" "" "00006" "{PMID:Xu 2015:26216056}" "2-generation family, 1 affected, unaffected parents" "F" "" "United States" "" "0" "" "" "white" "EG41" "00299675" "" "" "" "1" "" "00006" "{PMID:Xu 2015:26216056}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "Han Chinese" "SRF117" "00299676" "" "" "" "1" "" "00006" "{PMID:Xu 2015:26216056}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "China" "" "0" "" "" "Han Chinese" "SRF92" "00299678" "" "" "" "4" "" "00006" "{PMID:Hull 2016:26968735}" "3-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "M" "" "Pakistan" "" "0" "" "" "" "Fam1PatGC17830-1.1" "00299679" "" "" "00299678" "1" "" "00006" "{PMID:Hull 2016:26968735}" "" "M" "" "Pakistan" "" "0" "" "" "" "Fam1Pat1.2" "00299680" "" "" "00299678" "1" "" "00006" "{PMID:Hull 2016:26968735}" "" "M" "" "Pakistan" "" "0" "" "" "" "Fam1Pat1.3" "00299681" "" "" "" "2" "" "00006" "{PMID:Hull 2016:26968735}" "3-generation family, affected sister/brother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2PatGC1558" "00299682" "" "" "" "3" "" "00006" "{PMID:Hull 2016:26968735}" "2-generation family, 3 affected sibs" "M" "" "India" "" "0" "" "" "Gujarat" "Fam3PatGC4303-3.1" "00299683" "" "" "00299682" "1" "" "00006" "{PMID:Hull 2016:26968735}" "sister" "F" "" "India" "" "0" "" "" "Gujarat" "Fam3Pat3.2" "00299684" "" "" "" "3" "" "00006" "{PMID:Hull 2016:26968735}" "2-generation family, 3 affected brothers (3M)" "M" "" "Pakistan" "" "0" "" "" "Punjab" "Fam4PatGC20552" "00299685" "" "" "" "1" "" "00006" "{PMID:Hull 2016:26968735}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam5PatGC21161" "00304495" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304498" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307824" "" "" "" "11" "" "00006" "{PMID:Al-Bdour 2020:32587456}" "5-generation family, 11 affected (7F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Jordan" "" "0" "" "" "" "Fam4" "00309194" "" "" "" "2" "" "00004" "{PMID:Sharon 2019:31456290}" "2 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00325427" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "1830" "00325432" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "family" "" "" "Mexico" "" "0" "" "" "" "2007" "00325451" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "3068" "00325482" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "" "" "" "Mexico" "" "0" "" "" "" "3537" "00325516" "" "" "" "1" "" "00006" "{PMID:Zenteno 2020:31736247}" "single patient" "" "" "Mexico" "" "0" "" "" "" "EC18" "00328298" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "W000174" "00331490" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "16DG0308" "00331491" "" "" "" "2" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family, 2 affected (2M)" "M" "yes" "" "" "0" "" "" "Arab" "14DG1540 , 14DG1541" "00333836" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "M" "" "(United States)" "" "0" "" "" "" "32" "00333905" "" "" "" "2" "" "00000" "{PMID:Stone 2017:28559085}" "family, 2 affected" "M" "" "(United States)" "" "0" "" "" "" "272" "00334097" "" "" "" "1" "" "00000" "{PMID:Stone 2017:28559085}" "1 affected" "F" "" "(United States)" "" "0" "" "" "" "630" "00334456" "" "" "" "1" "" "00000" "{PMID:Huang 2017:28512305}" "patient" "" "" "China" "" "0" "" "" "" "RP-024" "00335978" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 486 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00358924" "" "" "" "1" "" "00000" "{PMID:Wang 2016:27422788}" "family, 1 affected, unaffected heterozygous carrier parents" "" "" "China" "" "0" "" "" "Han" "Fam36" "00359413" "" "" "" "1" "" "03149" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "M" "no" "Brazil" "" "0" "" "" "" "Pat15" "00362916" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2016:26766544}" "family" "" "" "Germany" "" "0" "" "" "" "ARRP210" "00363522" "" "" "" "2" "" "00000" "{PMID:Beheshtian 2015:26497376}" "4-generation family, 2 affected (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Iran" "" "0" "" "" "" "9200036/I-39400" "00375421" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#013" "00379530" "" "" "" "1" "" "00000" "{PMID:Foote-2019:10480356}" "" "F" "" "United States" "" "0" "" "" "" "" "00380136" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "likely" "Saudi Arabia" "" "0" "" "" "" "12DG1497" "00380147" "" "" "" "1" "" "00000" "{PMID:Patel 2018:30054919}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "15DG2297" "00383839" "" "" "" "1" "" "00000" "{PMID:Hariri 2018:31047384}" "" "?" "" "" "" "0" "" "" "" "" "00384078" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2144" "00385089" "" "" "" "1" "" "00000" "{PMID:Xu 2020:31630094}" "" "?" "no" "China" "" "0" "" "" "" "191035" "00385167" "" "" "" "1" "" "00000" "{PMID:Jiman 2020:31836858}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "60" "00385400" "" "" "" "1" "" "00000" "{PMID:Chen 2020:31872526}" "" "M" "" "Taiwan" "" "0" "" "" "" "F10-II-2" "00386629" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-119" "00386657" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-243" "00386744" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2887_004472" "00386801" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI2958_004543" "00386815" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI600_001235" "00386865" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "001-397" "00386875" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-056" "00386882" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-601" "00386902" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI646_001317" "00387494" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "MRI brain (2y) and RFT/electrolytes (8y) WNL Infantile chest infections" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387495" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387496" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387497" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387498" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387499" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387500" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "From Khan et al;3 hepatosplenomegaly" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387501" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "From Khan et al;3 RFT/electrolytes WNL (10m); brain MRI WNL" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387502" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "RFT/electrolytes WNL (8y)" "F" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387503" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "Excels in school" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387504" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "Kidney transplant (17y); knee surgery; keratoconus" "M" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00387505" "" "" "" "1" "" "00000" "{PMID:Bifari 2015:26359340}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "Saudi" "" "00388400" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "white" "R05-257A" "00388401" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "African American" "R10-579A" "00388402" "" "" "" "1" "" "00000" "{PMID:Zhang-2019:29068549}" "" "" "" "" "" "0" "" "" "Latino" "R98-466A" "00388545" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.006" "00388548" "" "" "" "1" "" "00000" "{PMID:Dineiro 2020:32483926}" "" "?" "" "Spain" "" "0" "" "" "" "OFTALMO.009" "00389297" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 210, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "F" "" "Germany" "" "0" "" "" "" "581" "00389298" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 210, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "582" "00389946" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 975, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "1230" "00390283" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000174" "00394601" "" "" "" "1" "" "00000" "{PMID:Colombo-2020:33576794}" "" "F" "no" "" "" "0" "" "" "" "" "00395569" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-0620" "00395584" "" "" "" "1" "" "00000" "{PMID:Perea-Romero 2021:34448047}" "" "" "" "Spain" "" "0" "" "" "" "RP-1436" "00395773" "" "" "" "1" "" "00000" "{PMID:Chen 2021:43360855}" "" "?" "" "Taiwan" "" "0" "" "" "" "F015" "00396496" "" "" "" "1" "" "00000" "{PMID:Numa 2020:33247286}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00396723" "" "" "" "1" "" "04116" "" "" "F" "" "" "" "0" "" "" "" "T735" "00399798" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "1031" "00407241" "" "" "" "1" "" "00000" "{PMID:Helm 2017:28724397}" "" "M" "no" "" "" "0" "" "" "" "DM165-0001" "00407242" "" "" "" "1" "" "00000" "{PMID:Oud 2018:30479745}" "" "F" "no" "Bangladesh" "" "0" "" "" "Bangladeshi" "II:3" "00407243" "" "" "" "1" "" "00000" "{PMID:Oud 2018:30479745}" "" "F" "no" "Bangladesh" "" "0" "" "" "Bangladeshi" "II:3" "00414347" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP14" "00420399" "" "" "" "1" "" "00000" "{PMID:Chen 2021:33608557}" "" "" "" "Taiwan" "" "0" "" "" "" "F015" "00429742" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "F" "" "" "" "0" "" "" "" "" "00430058" "" "" "" "1" "" "04436" "{PMID:Panneman 2023:36819107}" "" "M" "" "" "" "0" "" "" "" "" "00434064" "" "" "" "1" "" "01985" "" "in submission" "" "" "Germany" "" "0" "" "" "" "" "00446926" "" "" "" "4" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, >3 affected" "F" "" "Germany" "" "0" "" "" "" "ADRP-18" "00446996" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "ARRP-447" "00447123" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "F" "" "Germany" "" "0" "" "" "" "CRD-851" "00447343" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "STGD-327" "00447583" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "F" "" "Germany" "" "0" "" "" "" "SRP-78" "00447590" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient" "M" "" "Germany" "" "0" "" "" "" "SRP-659" "00447602" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1103" "00447707" "" "" "" "1" "" "00006" "{PMID:Weisschuh 2024:37734845}" "patient, no family history" "M" "" "Germany" "" "0" "" "" "" "SRP-1167" "00448825" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "M" "" "Japan" "" "0" "" "" "" "Pat8" "00448826" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "M" "" "Japan" "" "0" "" "" "" "Pat17" "00448831" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "M" "" "Japan" "" "0" "" "" "" "Pat45" "00462492" "" "" "" "1" "" "00006" "{PMID:Schmidts 2013:23418020}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Serbia" "" "0" "" "" "" "JATD4" "00467830" "" "" "" "1" "" "00006" "{PMID:Hussain 2023:36833373}" "4-generation family, 1 affected, unaffected parents" "M" "" "United States" "" "0" "" "" "Asia" "MEP-398" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 173 "{{individualid}}" "{{diseaseid}}" "00107873" "00715" "00107874" "05635" "00107875" "05635" "00107876" "05635" "00107877" "05635" "00107878" "00715" "00164426" "00198" "00233301" "04214" "00233302" "04214" "00233303" "04214" "00233304" "04214" "00233305" "04214" "00233306" "04214" "00233307" "04214" "00233308" "04214" "00233309" "04214" "00233310" "04214" "00233311" "04214" "00233312" "04214" "00233313" "04214" "00233314" "04214" "00233315" "04214" "00233316" "04214" "00233317" "04214" "00233318" "04214" "00233319" "04214" "00233320" "04214" "00233321" "04214" "00233322" "04214" "00233323" "04214" "00233324" "04214" "00233325" "04214" "00233326" "04214" "00233327" "04214" "00233328" "04214" "00233329" "04214" "00233330" "04214" "00233331" "04214" "00233332" "04214" "00233333" "04214" "00233334" "04214" "00233335" "04214" "00233336" "04214" "00233337" "04214" "00233338" "04214" "00233339" "04214" "00233340" "04214" "00233341" "04214" "00233342" "04214" "00233343" "04214" "00233344" "04214" "00233345" "04214" "00233346" "04214" "00233347" "04214" "00233348" "04214" "00233349" "04214" "00233350" "04214" "00233351" "04214" "00233352" "04214" "00233353" "04214" "00233784" "04214" "00233785" "04214" "00233786" "04214" "00233787" "04214" "00240443" "00381" "00240444" "00381" "00291375" "00198" "00291376" "00198" "00291384" "00198" "00291395" "00198" "00299670" "04214" "00299671" "04214" "00299672" "04214" "00299673" "04214" "00299674" "04214" "00299675" "04214" "00299676" "04214" "00299678" "04214" "00299679" "04214" "00299680" "04214" "00299681" "04214" "00299682" "04214" "00299683" "04214" "00299684" "04214" "00299685" "04214" "00304495" "00198" "00304498" "00198" "00307824" "04214" "00309194" "04214" "00325427" "04214" "00325432" "04214" "00325451" "04214" "00325482" "04214" "00325516" "04214" "00328298" "04214" "00331490" "05517" "00331491" "05517" "00333836" "04214" "00333905" "04214" "00334097" "04214" "00334456" "04214" "00335978" "04214" "00358924" "04214" "00359413" "00379" "00362916" "04214" "00363522" "04214" "00375421" "04214" "00379530" "04214" "00380136" "04214" "00380147" "04214" "00383839" "04214" "00384078" "04214" "00385089" "04214" "00385167" "04214" "00385400" "04214" "00386629" "04214" "00386657" "04214" "00386744" "04214" "00386801" "04214" "00386815" "04214" "00386865" "04214" "00386875" "04214" "00386882" "04214" "00386902" "04214" "00387494" "04214" "00387495" "04214" "00387496" "04214" "00387497" "04214" "00387498" "04214" "00387499" "04214" "00387500" "04214" "00387501" "04214" "00387502" "04214" "00387503" "04214" "00387504" "04214" "00387505" "04214" "00388400" "00198" "00388401" "00198" "00388402" "00198" "00388545" "04214" "00388548" "04214" "00389297" "04214" "00389298" "04214" "00389946" "04214" "00390283" "04214" "00394601" "04214" "00395569" "00198" "00395584" "04214" "00395773" "04214" "00396496" "04214" "00396723" "06890" "00399798" "06892" "00407241" "04214" "00407242" "04214" "00407243" "04214" "00414347" "00198" "00420399" "04214" "00429742" "00112" "00430058" "04210" "00434064" "00198" "00446926" "00198" "00446996" "00198" "00447123" "00198" "00447343" "00198" "00447583" "00198" "00447590" "00198" "00447602" "00198" "00447707" "00198" "00448825" "04222" "00448826" "04222" "00448831" "04222" "00462492" "05635" "00467830" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00112, 00198, 00379, 00381, 00715, 04210, 04214, 04222, 05517, 05635, 05725, 06890, 06892 ## Count = 102 "{{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}}" "0000085627" "00715" "00107873" "00041" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000085632" "00715" "00107878" "00041" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129485" "00198" "00164426" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Renal dysplasia (HP:0000110); Laryngomalacia (HP:0001601); Patent foramen ovale (HP:0001655)" "" "" "" "" "" "" "" "" "" "" "" "0000226976" "04214" "00299670" "00006" "Familial, autosomal recessive" "43y" "36y-vision loss; best corrected visual acuity 0.05/0.05; widespread bone-spicule pigmentation, gold foil macular reflex, attenuation retinal vessels, optical coherence topography thin retina with loss inner segment/outer segment; no renal abnormalities" "" "" "" "" "" "" "" "" "RP80" "retinitis pigmentosa" "" "0000226977" "04214" "00299671" "00006" "Familial, autosomal recessive" "28y" "23y-vision loss; best corrected visual acuity 0.3/0.4, bone-spicule, obvious salt and pepper changes, attenuated retinal vessels, optical coherence topography disrupted inner segment/outer segment; no renal abnormalities" "" "" "" "" "" "" "" "" "RP80" "retinitis pigmentosa" "" "0000226978" "04214" "00299672" "00006" "Familial, autosomal recessive" "25y" "25y-vision loss; best corrected visual acuity 0.6/0.4, electroretinogram severely reduced, retinal pigment epithelium atrophy with gray pigments in mid-peripheral retina, patchy hypofluorescence changes peripheral retina, eye hyperfluorescence ring around fovea, optical coherence topography preserved inner segment/outer segment central fovea and epi-retinal membrane right eye; no renal abnormalities" "" "" "" "" "" "" "" "" "RP80" "retinitis pigmentosa" "" "0000226979" "04214" "00299673" "00006" "Familial, autosomal recessive" "59y" "21y-vision loss; best corrected visual acuity 0.35/light perception, intraretinal pigment spicules, vascular attenuation; no renal abnormalities" "" "" "" "" "" "" "" "" "RP80" "retinitis pigmentosa" "" "0000226980" "04214" "00299674" "00006" "Familial, autosomal recessive" "55y" "33y-vision loss; electroretinogram severely reduced, intraretinal pigment spicules, vascular attenuation; no renal abnormalities" "" "" "" "" "" "" "" "" "RP80" "retinitis pigmentosa" "" "0000226981" "04214" "00299675" "00006" "Familial, autosomal recessive" "9y" "best corrected visual acuity 0.6/0.6, electroretinogram severely reduced, retinal pigment epithelium atrophy, hyperfluorecence ring macular area, optical coherence topography disruption of inner segment/outer segment, increased foveal retina thickness; no renal abnormalities" "" "" "" "" "" "" "" "" "RP80" "Leber congenital amaurosis" "" "0000226982" "04214" "00299676" "00006" "Familial, autosomal recessive" "11y" "best corrected visual acuity 0.06/0.06, widespread pigment crumbs at posterior pole and mid-peripheral area, optical coherence topography loss of inner segment/outer segment, retina atrophy; no renal abnormalities" "" "" "" "" "" "" "" "" "RP80" "Leber congenital amaurosis" "" "0000226983" "04214" "00299678" "00006" "Familial, autosomal recessive" "13y" "13y-logMAR Visual Acuity (Snellen) R 0.0 (6/6) L 0.0 (6/6), refractive error R +0.25/-1.25x40 L -5.50/-0.50x140; midperipheral hypopigmented dots, mild RPE atrophy; Humphrey visual fields, 24-2, extensive loss of peripheral field, preserved central 10 degrees, Ishihara R and L 17/17; 13y-residual pattern electroretinogram activity, severe loss of both rod and cone systems; normal serum creatinine level, normal estimated glomerular filtration rate" "02y" "" "" "" "" "" "" "" "RP80" "retinal dystrophy" "" "0000226984" "04214" "00299679" "00006" "Familial, autosomal recessive" "45y" "see paper; ..., 45y-logMAR Visual Acuity (Snellen) R 0.7 (6/30) L 0.5 (6/19); midperipheral RPE hypopigmentary change with intraretinal pigmentary migration, macular atrophy; early cataract R eye, 44y-L cataract surgery; normal serum creatinine level, normal estimated glomerular filtration rate" "<10y" "" "" "" "" "" "" "" "RP80" "retinal dystrophy" "" "0000226985" "04214" "00299680" "00006" "Familial, autosomal recessive" "44y" "see paper; ..., 44y-logMAR Visual Acuity (Snellen) R 0.3 (6/12) L 0.3 (6/12); midperipheral RPE hypopigmentation, early macular atrophy; early lens opacity; normal serum creatinine level, normal estimated glomerular filtration rate" "<10y" "" "" "" "" "" "" "" "RP80" "retinal dystrophy" "" "0000226986" "04214" "00299681" "00006" "Familial, autosomal recessive" "67y" "see paper; ..., 67y-logMAR Visual Acuity (Snellen) R HM L PL; posterior pole chorioretinal atrophy, extensive midperipheral pigmentation, severely attenuated vessels; confrontation visual fields <58 both eyes, cataract surgery both eyes late 40s, myopic prior; serum creatinine level 76 umol/L, estimated glomerular filtration rate 95" "16y" "" "" "" "" "" "" "" "RP80" "retinal dystrophy" "" "0000226987" "04214" "00299682" "00006" "Familial, autosomal recessive" "53y" "see paper; ..., 53y-logMAR Visual Acuity (Snellen) R 0.7 (6/30) L 1.8 (1/60); R cystoid macular edema with epiretinal membrane, B macular atrophy, attenuated vessels extensive pigmentary change; confrontation visual fields 20degrees on R, 10degrees on L, early cataract; 45y-undetectable pattern electroretinogram and rod-specific electroretinogram, markedly subnormal cone; serum creatinine level 115 umol/L, estimated glomerular filtration rate 61" "<30y" "" "" "" "" "" "" "" "RP80" "retinal dystrophy" "" "0000226988" "04214" "00299683" "00006" "Familial, autosomal recessive" "57y" "see paper; ..., 57y-logMAR Visual Acuity (Snellen) R 0.2 (6/9.5) L 0.2 (6/9.5); marked vessel attenuation with nasally occluded vessels, extensive atrophy particularly of posterior pole, midperipheral pigmentary change; early cataract both eyes, Ishihara R 2/17 L 4/17; serum creatinine level 91 umol/L, estimated glomerular filtration rate 56" "<35y" "" "" "" "" "" "" "" "RP80" "retinal dystrophy" "" "0000226989" "04214" "00299684" "00006" "Familial, autosomal recessive" "26y" "26y-logMAR Visual Acuity (Snellen) R 0.3 (6/12) L 0.2 (6/9), refractive error R -2.50/-0.75x15 L -1.75/-1.25x10; bilateral mild epiretinal membrane, mild RPE change mid-periphery; early subcapsular cataract, Ishihara R 7/17 L 17/17; 25y-subnormal pattern electroretinogram, undetectable rod specific responses, subnormal cone" "14y" "" "" "" "" "" "" "" "RP80" "retinal dystrophy" "" "0000226990" "04214" "00299685" "00006" "Familial, autosomal recessive" "31y" "31y-logMAR Visual Acuity (Snellen) R 0.0 (6/6) L 0.1 (6/4.8); attenuated vessels, midperipheral RPE mottling; confrontation visual fields, full Ishihara R 17/17 L 17/17; serum creatinine level 77 umol/L, estimated glomerular filtration rate 109" "28y" "" "" "" "" "" "" "" "RP80" "retinal dystrophy" "" "0000233264" "04214" "00307824" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RPA" "retinitis pigmentosa" "" "0000234514" "04214" "00309194" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000243914" "04214" "00325427" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243919" "04214" "00325432" "00006" "Familial, autosomal recessive" "" "syndromic retinal dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243938" "04214" "00325451" "00006" "Familial, autosomal recessive" "" "macular dystrophy" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000243969" "04214" "00325482" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000244003" "04214" "00325516" "00006" "Familial, autosomal recessive" "" "retinitis pigmentosa" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000246525" "04214" "00328298" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000249682" "05517" "00331490" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Abnormality of eye movement, Short stature, Deeply set eyeNo" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000249683" "05517" "00331491" "00000" "Familial, autosomal recessive" "" "Global developmental delay, Agenesis of the corpus callosum, Deeply set eye, Abnormal inYes" "" "" "" "" "" "" "" "" "Ciliopathies with major skeletal involvement" "skeletal dysplasia" "" "0000252021" "04214" "00333836" "00000" "Familial, autosomal recessive" "22y" "clinical category IA1a" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252090" "04214" "00333905" "00000" "Familial, autosomal recessive" "45y" "clinical category IA1aiii" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252282" "04214" "00334097" "00000" "Familial, autosomal recessive" "8y" "clinical category IB4" "" "" "" "" "" "" "" "" "" "Senior Loken syndrome" "" "0000252545" "04214" "00334456" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "short-rib thoracic dysplasia" "" "0000253893" "04214" "00335978" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal dystrophy" "" "0000254184" "04214" "00358924" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000258282" "04214" "00362916" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000258871" "04214" "00363522" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270635" "04214" "00375421" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000273403" "04214" "00379530" "00000" "Familial" "39y" "" "" "" "" "" "" "" "" "" "" "Simplex retinitis pigmentosa" "" "0000273991" "04214" "00380136" "00000" "Familial, autosomal recessive" "" "LCA with motor and cognitive delay" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis, motor and cognitive delay" "" "0000274002" "04214" "00380147" "00000" "Familial, autosomal recessive" "" "IFT140-related retinal and renal ciliopathy" "" "" "" "" "" "" "" "" "" "dystrophy, retinal (RD)" "" "0000277624" "04214" "00383839" "00000" "Familial, autosomal recessive" "13y" "BCVA OD-OS: 20/30-20/50" "" "11y" "" "" "" "" "" "" "" "" "" "0000277863" "04214" "00384078" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "" "0000278873" "04214" "00385089" "00000" "Isolated (sporadic)" "6y" "nyctalopia, no nystagmus, no oculodigital sign, ERG extinguished, best corrected visual acuity right/left eye: 0.4/0.2" "2y" "" "" "" "" "" "" "" "early onset severe retinal dystrophy" "early onset severe retinal dystrophy" "" "0000278963" "04214" "00385167" "00000" "Familial, autosomal recessive" "50y11m" "HP:0001251 Cerebellar ataxia; HP:0000510 Rod-cone dystrophy;" "" "" "" "" "" "" "" "" "" "Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly" "" "0000279196" "04214" "00385400" "00000" "Isolated (sporadic)" "31y" "31" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000280429" "04214" "00386629" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280457" "04214" "00386657" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280544" "04214" "00386744" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280601" "04214" "00386801" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280615" "04214" "00386815" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280665" "04214" "00386865" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280675" "04214" "00386875" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280682" "04214" "00386882" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280702" "04214" "00386902" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000281057" "04214" "00387494" "00000" "Familial, autosomal recessive" "" "photophilia in infancy, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281058" "04214" "00387495" "00000" "Familial, autosomal recessive" "" "oculo-digital reflex in childhood, developmental delay, photophilia in infancy, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281059" "04214" "00387496" "00000" "Familial, autosomal recessive" "" "oculo-digital reflex in childhood, developmental delay, photophilia in infancy, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281060" "04214" "00387497" "00000" "Familial, autosomal recessive" "" "oculo-digital reflex in childhood, photophilia in infancy, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old, hypotonia" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281061" "04214" "00387498" "00000" "Familial, autosomal recessive" "" "oculo-digital reflex in childhood, developmental delay, photophilia in infancy, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281062" "04214" "00387499" "00000" "Familial, autosomal recessive" "" "photophilia in infancy, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281063" "04214" "00387500" "00000" "Familial, autosomal recessive" "" "oculo-digital reflex in childhood, developmental delay, photophilia in infancy, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281064" "04214" "00387501" "00000" "Familial, autosomal recessive" "" "developmental delay, photophilia in infancy, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281065" "04214" "00387502" "00000" "Familial, autosomal recessive" "" "oculo-digital reflex in childhood, developmental delay, photophilia in infancy, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281066" "04214" "00387503" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281067" "04214" "00387504" "00000" "Familial, autosomal recessive" "" "developmental delay, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281068" "04214" "00387505" "00000" "Familial, autosomal recessive" "" "oculo-digital reflex in childhood, developmental delay, congenital nystagmus, poor vision and a grossly normal fundus appearance before 1 year old but dystrophic changes noted by 2 years old" "" "" "" "" "" "" "" "" "" "Leber congenital amarosis (LCA)" "" "0000281952" "00198" "00388400" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281953" "00198" "00388401" "00000" "Familial, autosomal recessive" "" "polydactyly" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000281954" "00198" "00388402" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "asphyxiating thoracic dystrophy (ATD)" "" "0000282085" "04214" "00388545" "00000" "Familial, autosomal recessive" "" "Non‐syndrom" "" "15y" "" "" "" "" "" "" "Retinitis pigmentosa type 80" "Retinitis pigmentosa" "" "0000282088" "04214" "00388548" "00000" "Isolated (sporadic)" "" "Hidden syndrome" "" "21y" "" "" "" "" "" "" "Retinitis pigmentosa type 80" "Retinitis pigmentosa" "" "0000282838" "04214" "00389297" "00000" "Familial, autosomal recessive" "82y" "age at genetic diagnosis mentioned" "" "78y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000282839" "04214" "00389298" "00000" "Familial, autosomal recessive" "80y" "age at genetic diagnosis mentioned" "" "76y" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa" "" "" "0000283487" "04214" "00389946" "00000" "Isolated (sporadic)" "58y" "age at genetic diagnosis mentioned" "" "56y" "" "" "" "" "" "" "sporadic retinitis pigmentosa" "" "" "0000283821" "04214" "00390283" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000287804" "04214" "00394601" "00000" "Familial, autosomal recessive" "65y" "" "52y" "" "" "" "" "" "" "" "" "Nonsyndromic retinitis pigmentosa" "" "0000288767" "00198" "00395569" "00000" "Isolated (sporadic)" "" "astigmatism, myopia, rod-cone dystrophy, obesity" "" "" "" "" "" "" "" "" "Mixed" "" "" "0000288782" "04214" "00395584" "00000" "Familial, autosomal recessive" "" "astigmatism, cataract, early onset rod-cone dystrophy, polycystic kidney disease" "" "" "" "" "" "" "" "" "Cilioptic atrophythy" "Senior-Loken-like syndrome" "" "0000288935" "04214" "00395773" "00000" "Unknown" "45y10m" "" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000289657" "04214" "00396496" "00000" "Familial, autosomal recessive" "51y" "decreased visual acuity" "29y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000291908" "06890" "00396723" "04116" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "sporadic hypothalamic hamartoma" "" "0000299595" "04214" "00407241" "00000" "Familial" "5y" "" "" "" "nyctalopia, high myopia, continued poor visual tracking, retinal dystrophy, acute-onset renal failure, joint pain, etc (see paper)" "" "" "" "" "" "" "Mainzer-Saldino syndrome (MZSDS)" "" "0000299596" "04214" "00407242" "00000" "Familial" "1y" "1y: mild skeletal abnormalities; short stature (? 1.9 SD), mild narrowing of the thorax, and brachydactyly of both hands and feet" "" "" "bilateral vision and hearing difficulties" "" "" "" "" "" "Mainzer-Saldino syndrome (MZSDS)" "Leber congenital amaurosis (LCA) at 7m" "" "0000299597" "04214" "00407243" "00000" "Familial" "" "1y: mild skeletal abnormalities; short stature (? 1.9 SD), mild narrowing of the thorax, and brachydactyly of both hands and feet" "" "" "" "" "" "" "" "" "Mainzer-Saldino syndrome (MZSDS)" "Leber congenital amaurosis (LCA) at 7m" "" "0000306182" "00198" "00414347" "00000" "Familial, autosomal recessive" "7y" "" "" "" "" "" "" "" "" "" "Short-rib thoracic dysplasia 9 with or without polydactyly" "" "" "0000311647" "04214" "00420399" "00000" "Familial, autosomal recessive" "45y10m" "" "5y" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "" "0000320614" "00112" "00429742" "04436" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000320930" "04210" "00430058" "04436" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000331066" "00198" "00434064" "01985" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Tall Stature" "" "0000336125" "00198" "00446926" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal dominant" "" "0000336195" "00198" "00446996" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, autosomal recessive" "" "0000336322" "00198" "00447123" "00006" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000336542" "00198" "00447343" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" "" "0000336782" "00198" "00447583" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336789" "00198" "00447590" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336801" "00198" "00447602" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000336906" "00198" "00447707" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa, simplex" "" "0000338000" "04222" "00448825" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000338001" "04222" "00448826" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000338006" "04222" "00448831" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" "" "0000349968" "05635" "00462492" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "SRTD9" "" "" "0000352984" "04214" "00467830" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., BVCA right 20/25+2, left 20/20-2; minimal progression; nyctalopia, midperipheral scotomas, midperipheral atrophy, reduced ERGs, visual fields, loss of outer retinal structures on OCT, high myopia" "9y" "" "" "" "" "" "" "" "RP80" "retinitis pigmentosa" "" ## Screenings ## Do not remove or alter this header ## ## Count = 173 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108342" "00107873" "1" "00041" "00041" "2012-10-30 13:28:27" "" "" "SEQ-NG-R" "DNA" "" "" "0000108343" "00107874" "1" "00041" "00041" "2012-10-30 13:19:43" "" "" "SEQ-NG-R" "DNA" "" "" "0000108344" "00107875" "1" "00041" "00041" "2012-10-30 13:15:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000108345" "00107876" "1" "00041" "00041" "2012-10-30 13:17:28" "" "" "SEQ" "DNA" "" "" "0000108346" "00107877" "1" "00041" "00041" "2012-10-30 13:21:40" "" "" "SEQ" "DNA" "" "" "0000108347" "00107878" "1" "00041" "00041" "2012-10-30 13:25:00" "" "" "SEQ-NG-R" "DNA" "" "" "0000165293" "00164426" "1" "01807" "01807" "2018-05-17 16:07:00" "" "" "SEQ" "DNA" "" "" "0000234400" "00233301" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234401" "00233302" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234402" "00233303" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234403" "00233304" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234404" "00233305" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234405" "00233306" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234406" "00233307" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234407" "00233308" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234408" "00233309" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234409" "00233310" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234410" "00233311" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234411" "00233312" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234412" "00233313" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234413" "00233314" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234414" "00233315" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234415" "00233316" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234416" "00233317" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234417" "00233318" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234418" "00233319" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234419" "00233320" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234420" "00233321" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234421" "00233322" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234422" "00233323" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234423" "00233324" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234424" "00233325" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234425" "00233326" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234426" "00233327" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" 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15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234438" "00233339" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234439" "00233340" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234440" "00233341" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234441" "00233342" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234442" "00233343" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234443" "00233344" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234444" "00233345" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234445" "00233346" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234446" "00233347" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234447" "00233348" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234448" "00233349" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234449" "00233350" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234450" "00233351" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234451" "00233352" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234452" "00233353" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234883" "00233784" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234884" "00233785" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234885" "00233786" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234886" "00233787" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000241553" "00240443" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000241554" "00240444" "1" "03335" "00008" "2019-06-20 17:48:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000292543" "00291375" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292544" "00291376" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292552" "00291384" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292563" "00291395" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000300780" "00299670" "1" "00006" "00006" "2020-04-19 19:31:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300781" "00299671" "1" "00006" "00006" "2020-04-19 19:31:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300782" "00299672" "1" "00006" "00006" "2020-04-19 19:31:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300783" "00299673" "1" "00006" "00006" "2020-04-19 19:31:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300784" "00299674" "1" "00006" "00006" "2020-04-19 19:31:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300785" "00299675" "1" "00006" "00006" "2020-04-19 19:31:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300786" "00299676" "1" "00006" "00006" "2020-04-19 19:31:28" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300788" "00299678" "1" "00006" "00006" "2020-04-20 09:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300789" "00299679" "1" "00006" "00006" "2020-04-20 09:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300790" "00299680" "1" "00006" "00006" "2020-04-20 09:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300791" "00299681" "1" "00006" "00006" "2020-04-20 09:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300792" "00299682" "1" "00006" "00006" "2020-04-20 09:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300793" "00299683" "1" "00006" "00006" "2020-04-20 09:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300794" "00299684" "1" "00006" "00006" "2020-04-20 09:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000300795" "00299685" "1" "00006" "00006" "2020-04-20 09:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000305624" "00304495" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305627" "00304498" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308964" "00307824" "1" "00006" "00006" "2020-08-18 14:48:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310339" "00309194" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000326638" "00325427" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326643" "00325432" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326662" "00325451" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326693" "00325482" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000326727" "00325516" "1" "00006" "00006" "2021-01-03 11:36:11" "" "" "SEQ;SEQ-NG" "DNA" "" "199 gene panel" "0000329513" "00328298" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000332709" "00331490" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000332710" "00331491" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000335062" "00333836" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335131" "00333905" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335323" "00334097" "1" "00000" "00006" "2021-02-26 16:26:23" "" "" "SEQ-NG" "DNA" "" "" "0000335685" "00334456" "1" "00000" "00006" "2021-02-28 16:11:14" "" "" "SEQ-NG" "DNA" "" "WES" "0000337208" "00335978" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360157" "00358924" "1" "00000" "00006" "2021-03-17 09:43:06" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000360655" "00359413" "1" "03149" "03149" "2021-03-20 19:08:38" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000364144" "00362916" "1" "00000" "00006" "2021-04-23 19:25:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000364750" "00363522" "1" "00000" "00006" "2021-04-29 12:09:44" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000376618" "00375421" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000380730" "00379530" "1" "00000" "00008" "2021-08-05 00:17:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000381338" "00380136" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "322 eye disease gene panel" "0000381349" "00380147" "1" "00000" "03840" "2021-08-10 09:47:12" "" "" "SEQ-NG" "DNA" "" "WES" "0000385064" "00383839" "1" "00000" "03840" "2021-09-29 12:44:05" "" "" "SEQ" "DNA" "" "retrospective analysis" "0000385303" "00384078" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000386318" "00385089" "1" "00000" "03840" "2021-10-06 17:52:46" "" "" "SEQ-NG" "DNA" "" "targeted next-generation sequencing" "0000386396" "00385167" "1" "00000" "03840" "2021-10-08 17:29:22" "" "" "SEQ-NG-I" "DNA" "" "176 genes panel" "0000386629" "00385400" "1" "00000" "03840" "2021-10-10 19:46:50" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387857" "00386629" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387885" "00386657" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000387972" "00386744" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388029" "00386801" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388043" "00386815" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388093" "00386865" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388103" "00386875" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388110" "00386882" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388130" "00386902" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388720" "00387494" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388721" "00387495" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388722" "00387496" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388723" "00387497" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388724" "00387498" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388725" "00387499" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388726" "00387500" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388727" "00387501" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388728" "00387502" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388729" "00387503" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388730" "00387504" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000388731" "00387505" "1" "00000" "00008" "2021-10-29 21:32:58" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000389641" "00388400" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389642" "00388401" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389643" "00388402" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "Exome sequencing" "0000389787" "00388545" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000389790" "00388548" "1" "00000" "03840" "2021-11-04 19:02:37" "" "" "SEQ-NG-I;SEQ" "DNA" "blood;saliva" "targeted sequencing with 1 of 4 panels of OFTALMOgenics probes" "0000390540" "00389297" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper" "0000390541" "00389298" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ" "DNA" "blood" "Sanger sequencing" "0000391189" "00389946" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET8 targeted sequencing panel - see paper" "0000391524" "00390283" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000395848" "00394601" "1" "00000" "00008" "2021-12-02 08:42:19" "" "" "SEQ" "DNA" "" "" "0000396807" "00395569" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000396822" "00395584" "1" "00000" "03840" "2021-12-08 14:12:08" "" "" "?" "DNA" "" "whole exome sequencing" "0000397012" "00395773" "1" "00000" "03840" "2021-12-09 13:32:39" "" "" "SEQ-NG" "DNA" "blood" "212 inherited retinal disease-related genes" "0000397739" "00396496" "1" "00000" "00008" "2021-12-16 13:33:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000397966" "00396723" "1" "04116" "04116" "2021-12-17 02:42:12" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000401041" "00399798" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000408489" "00407241" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ;arraySNP" "DNA" "" "Bidirectional sequencing" "0000408490" "00407242" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;IHC" "DNA" "blood;URECs" "WES and cell isolation and culture" "0000408491" "00407243" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;IHC" "DNA" "blood;URECs" "WES and cell isolation and culture" "0000415627" "00414347" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000421708" "00420399" "1" "00000" "03840" "2022-11-02 10:32:06" "" "" "SEQ-NG" "DNA" "" "targeted 212 IRD-related genes" "0000431155" "00429742" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000431471" "00430058" "1" "04436" "00008" "2023-01-11 18:53:49" "" "" "SEQ" "DNA" "" "RP-LCA smMIPs sequencing" "0000435528" "00434064" "1" "01985" "00006" "2023-03-19 09:44:11" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448503" "00446926" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448573" "00446996" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448700" "00447123" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000448920" "00447343" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449160" "00447583" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449167" "00447590" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449179" "00447602" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000449284" "00447707" "1" "00006" "00006" "2024-01-26 10:23:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000450416" "00448825" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450417" "00448826" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450422" "00448831" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000464125" "00462492" "1" "00006" "00006" "2025-02-13 10:18:41" "" "" "SEQ" "DNA" "" "" "0000469496" "00467830" "1" "00006" "00006" "2025-10-31 22:30:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 146 "{{screeningid}}" "{{geneid}}" "0000108342" "IFT140" "0000108343" "IFT140" "0000108344" "IFT140" "0000108345" "IFT140" "0000108346" "IFT140" "0000108347" "IFT140" "0000234400" "IFT140" "0000234401" "IFT140" "0000234402" "IFT140" "0000234403" "IFT140" "0000234404" "IFT140" "0000234405" "IFT140" "0000234406" "IFT140" "0000234407" "IFT140" "0000234408" "IFT140" "0000234409" "IFT140" "0000234410" "IFT140" "0000234411" "IFT140" "0000234412" "IFT140" "0000234413" "IFT140" "0000234414" "IFT140" "0000234415" "IFT140" "0000234416" "IFT140" "0000234417" "IFT140" "0000234418" "IFT140" "0000234419" "IFT140" "0000234420" "IFT140" "0000234421" "IFT140" "0000234422" "IFT140" "0000234423" "IFT140" "0000234424" "IFT140" "0000234425" "IFT140" "0000234426" "IFT140" "0000234427" "IFT140" "0000234428" "IFT140" "0000234429" "IFT140" "0000234430" "IFT140" "0000234431" "IFT140" "0000234432" "IFT140" "0000234433" "IFT140" "0000234434" "IFT140" "0000234435" "IFT140" "0000234436" "IFT140" "0000234437" "IFT140" "0000234438" "IFT140" "0000234439" "IFT140" "0000234440" "IFT140" "0000234441" "IFT140" "0000234442" "IFT140" "0000234443" "IFT140" "0000234444" "IFT140" "0000234445" "IFT140" "0000234446" "IFT140" "0000234447" "IFT140" "0000234448" "IFT140" "0000234449" "IFT140" "0000234450" "IFT140" "0000234451" "IFT140" "0000234452" "IFT140" "0000234883" "IFT140" "0000234884" "IFT140" "0000234885" "IFT140" "0000234886" "IFT140" "0000241553" "IFT140" "0000241554" "IFT140" "0000300780" "IFT140" "0000300781" "IFT140" "0000300782" "IFT140" "0000300783" "IFT140" "0000300784" "IFT140" "0000300785" "IFT140" "0000300786" "IFT140" "0000300788" "IFT140" "0000300789" "IFT140" "0000300790" "IFT140" "0000300791" "IFT140" "0000300792" "IFT140" "0000300793" "IFT140" "0000300794" "IFT140" "0000300795" "IFT140" "0000308964" "RLBP1" "0000310339" "IFT140" "0000326638" "IFT140" "0000326643" "BBS2" "0000326662" "IFT140" "0000326693" "IFT140" "0000326727" "IFT140" "0000329513" "IFT140" "0000332709" "IFT140" "0000332710" "IFT140" "0000335062" "IFT140" "0000335131" "IFT140" "0000335323" "IFT140" "0000335685" "IFT140" "0000337208" "IFT140" "0000360157" "IFT140" "0000364144" "IFT140" "0000364750" "IFT140" "0000380730" "IFT140" "0000385303" "IFT140" "0000386318" "IFT140" "0000386396" "IFT140" "0000386629" "IFT140" "0000387857" "IFT140" "0000387885" "PROM1" "0000387972" "IFT140" "0000388029" "IFT140" "0000388043" "IFT140" "0000388093" "IFT140" "0000388103" "GPR98" "0000388110" "IFT140" "0000388130" "IFT140" "0000388720" "IFT140" "0000388721" "IFT140" "0000388722" "IFT140" "0000388723" "IFT140" "0000388724" "IFT140" "0000388725" "IFT140" "0000388726" "IFT140" "0000388727" "IFT140" "0000388728" "IFT140" "0000388729" "IFT140" "0000388730" "IFT140" "0000388731" "IFT140" "0000389641" "IFT140" "0000389642" "IFT140" "0000389643" "IFT140" "0000389787" "IFT140" "0000389790" "IFT140" "0000390540" "IFT140" "0000390541" "IFT140" "0000391189" "IFT140" "0000391524" "IFT140" "0000395848" "IFT140" "0000396807" "IFT140" "0000396822" "IFT140" "0000397012" "IFT140" "0000397739" "EYS" "0000408489" "IFT140" "0000408490" "IFT140" "0000408491" "IFT140" "0000415627" "IFT140" "0000421708" "IFT140" "0000431155" "IFT140" "0000431471" "IFT140" "0000464125" "IFT140" ## 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 = 555 "{{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}}" "0000174263" "21" "50" "16" "1642541" "1642541" "subst" "0" "00041" "IFT140_000008" "g.1642541C>T" "" "{PMID:Schmidts 2013:23418020}" "" "" "" "Germline" "" "" "0" "" "" "g.1592540C>T" "" "VUS" "" "0000174264" "3" "70" "16" "1642505" "1642505" "subst" "4.06138E-6" "00041" "IFT140_000004" "g.1642505G>A" "" "{PMID:Schmidts 2013:23418020}" "" "" "" "Germline" "" "" "0" "" "" "g.1592504G>A" "" "likely pathogenic (recessive)" "" "0000174265" "11" "90" "16" "1642469" "1642469" "subst" "0" "00041" "IFT140_000010" "g.1642469C>A" "" "{PMID:Schmidts 2013:23418020}" "" "" "" "Germline" "" "" "0" "" "" "g.1592468C>A" "" "pathogenic (recessive)" "" "0000174266" "21" "50" "16" "1639616" "1639616" "subst" "0" "00041" "IFT140_000009" "g.1639616T>C" "" "{PMID:Schmidts 2013:23418020}" "" "" "" "Germline" "" "" "0" "" "" "g.1589615T>C" "" "VUS" "" "0000174267" "11" "70" "16" "1637962" "1637962" "subst" "4.09326E-6" "00041" "IFT140_000002" "g.1637962C>T" "" "" "" "874C>T" "" "Germline" "" "" "0" "" "" "g.1587961C>T" "" "likely pathogenic (recessive)" "" "0000174268" "21" "90" "16" "1633367" "1633367" "del" "4.06468E-6" "00041" "IFT140_000001" "g.1633367del" "" "{PMID:Schmidts 2013:23418020}" "" "1380delG" "" "Germline" "" "" "0" "" "" "g.1583366del" "" "pathogenic (recessive)" "" "0000174269" "11" "70" "16" "1621495" "1621495" "subst" "0.000129975" "00041" "IFT140_000003" "g.1621495C>T" "" "{PMID:Schmidts 2013:23418020}" "" "" "" "Germline" "" "" "0" "" "" "g.1571494C>T" "" "likely pathogenic (recessive)" "" "0000174270" "0" "90" "16" "1608057" "1608057" "subst" "0" "00041" "IFT140_000005" "g.1608057G>A" "" "{PMID:Schmidts 2013:23418020}" "" "R759*" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.1558056G>A" "" "likely pathogenic (recessive)" "" "0000174271" "21" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "00041" "IFT140_000006" "g.1607935C>A" "" "{PMID:Schmidts 2013:23418020}" "" "" "" "Germline" "" "" "0" "" "" "g.1557934C>A" "" "pathogenic (recessive)" "" "0000174272" "11" "90" "16" "1568321" "1568321" "subst" "0" "00041" "IFT140_000007" "g.1568321A>G" "" "{PMID:Schmidts 2013:23418020}" "" "" "" "Germline" "" "" "0" "" "" "g.1518320A>G" "" "pathogenic (recessive)" "" "0000247970" "0" "10" "16" "1614097" "1614097" "subst" "0.388665" "02325" "IFT140_000040" "g.1614097A>G" "" "" "" "IFT140(NM_014714.3):c.1968T>C (p.S656=), IFT140(NM_014714.4):c.1968T>C (p.S656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1564096A>G" "" "benign" "" "0000248025" "0" "10" "16" "1573810" "1573810" "subst" "0.964365" "02325" "IFT140_000023" "g.1573810A>G" "" "" "" "IFT140(NM_014714.3):c.3270+19T>C, IFT140(NM_014714.4):c.3270+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523809A>G" "" "benign" "" "0000253231" "0" "10" "16" "1614097" "1614097" "subst" "0.388665" "01943" "IFT140_000040" "g.1614097A>G" "" "" "" "IFT140(NM_014714.3):c.1968T>C (p.S656=), IFT140(NM_014714.4):c.1968T>C (p.S656=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1564096A>G" "" "benign" "" "0000253286" "0" "10" "16" "1573810" "1573810" "subst" "0.964365" "01943" "IFT140_000023" "g.1573810A>G" "" "" "" "IFT140(NM_014714.3):c.3270+19T>C, IFT140(NM_014714.4):c.3270+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523809A>G" "" "benign" "" "0000253480" "0" "10" "16" "1608082" "1608082" "subst" "0.24784" "01943" "IFT140_000037" "g.1608082A>G" "" "" "" "IFT140(NM_014714.3):c.2253T>C (p.P751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1558081A>G" "" "benign" "" "0000254258" "0" "30" "16" "1616275" "1616275" "subst" "0.000617244" "01943" "IFT140_000043" "g.1616275A>G" "" "" "" "IFT140(NM_014714.3):c.1788T>C (p.D596=, p.(Asp596=)), IFT140(NM_014714.4):c.1788T>C (p.D596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1566274A>G" "" "likely benign" "" "0000255997" "0" "50" "16" "1570262" "1570262" "subst" "0.00475092" "01943" "IFT140_000016" "g.1570262A>G" "" "" "" "IFT140(NM_014714.3):c.3743T>C (p.I1248T, p.(Ile1248Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520261A>G" "" "VUS" "" "0000277851" "0" "10" "16" "1621518" "1621518" "subst" "0.00419494" "02330" "IFT140_000044" "g.1621518G>T" "" "" "" "IFT140(NM_014714.3):c.1542C>A (p.L514=, p.(Leu514=)), IFT140(NM_014714.4):c.1542C>A (p.L514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571517G>T" "" "benign" "" "0000277852" "0" "10" "16" "1616232" "1616232" "subst" "0.00079184" "02330" "IFT140_000042" "g.1616232C>T" "" "" "" "IFT140(NM_014714.3):c.1831G>A (p.V611I, p.(Val611Ile)), IFT140(NM_014714.4):c.1831G>A (p.V611I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1566231C>T" "" "benign" "" "0000277853" "0" "10" "16" "1613994" "1613994" "subst" "0.00011649" "02330" "IFT140_000039" "g.1613994G>A" "" "" "" "IFT140(NM_014714.3):c.2067+4C>T, IFT140(NM_014714.4):c.2067+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1563993G>A" "" "benign" "" "0000277854" "0" "10" "16" "1591962" "1591962" "subst" "0.228621" "02330" "IFT140_000034" "g.1591962G>A" "" "" "" "IFT140(NM_014714.4):c.2400-15165C>T, TMEM204(NM_024600.6):c.321G>A (p.T107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1541961G>A" "" "benign" "" "0000277855" "0" "10" "16" "1592087" "1592087" "subst" "0.230346" "02330" "IFT140_000035" "g.1592087T>C" "" "" "" "IFT140(NM_014714.4):c.2400-15290A>G, TMEM204(NM_024600.6):c.436+10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1542086T>C" "" "benign" "" "0000277856" "0" "10" "16" "1584294" "1584294" "subst" "0.00475846" "02330" "IFT140_000032" "g.1584294C>T" "" "" "" "IFT140(NM_014714.4):c.2400-7497G>A, TMEM204(NM_024600.6):c.18C>T (p.L6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1534293C>T" "" "benign" "" "0000277857" "0" "10" "16" "1575995" "1575995" "subst" "1.83889E-5" "02330" "IFT140_000030" "g.1575995C>T" "" "" "" "IFT140(NM_014714.3):c.2661G>A (p.E887=), IFT140(NM_014714.4):c.2661G>A (p.E887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1525994C>T" "" "benign" "" "0000277858" "0" "30" "16" "1575870" "1575870" "subst" "0.000981763" "02330" "IFT140_000028" "g.1575870C>T" "" "" "" "IFT140(NM_014714.4):c.2768+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1525869C>T" "" "likely benign" "" "0000277859" "0" "10" "16" "1574615" "1574615" "subst" "0.00383233" "02330" "IFT140_000026" "g.1574615C>T" "" "" "" "IFT140(NM_014714.3):c.3079G>A (p.G1027R), IFT140(NM_014714.4):c.3079G>A (p.G1027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524614C>T" "" "benign" "" "0000277860" "0" "10" "16" "1574590" "1574590" "subst" "7.84877E-5" "02330" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524589C>T" "" "benign" "" "0000277861" "0" "10" "16" "1573546" "1573546" "subst" "0.000200008" "02330" "IFT140_000022" "g.1573546C>T" "" "" "" "IFT140(NM_014714.3):c.3426G>A (p.A1142=), IFT140(NM_014714.4):c.3426G>A (p.A1142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523545C>T" "" "benign" "" "0000277862" "0" "10" "16" "1652388" "1652388" "subst" "2.0316E-5" "02330" "IFT140_000059" "g.1652388G>A" "" "" "" "IFT140(NM_014714.4):c.352C>T (p.L118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1602387G>A" "" "benign" "" "0000277863" "0" "50" "16" "1570721" "1570721" "subst" "0.000356944" "02330" "IFT140_000021" "g.1570721G>A" "" "" "" "IFT140(NM_014714.3):c.3542C>T (p.S1181L), IFT140(NM_014714.4):c.3542C>T (p.S1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520720G>A" "" "VUS" "" "0000277864" "0" "10" "16" "1570618" "1570618" "subst" "0" "02330" "IFT140_000020" "g.1570618G>A" "" "" "" "IFT140(NM_014714.4):c.3645C>T (p.A1215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520617G>A" "" "benign" "" "0000277865" "0" "10" "16" "1570589" "1570589" "subst" "0.000141789" "02330" "IFT140_000019" "g.1570589C>T" "" "" "" "IFT140(NM_014714.4):c.3660+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520588C>T" "" "benign" "" "0000277866" "0" "10" "16" "1652359" "1652359" "subst" "0.000382979" "02330" "IFT140_000058" "g.1652359G>A" "" "" "" "IFT140(NM_014714.4):c.369+12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1602358G>A" "" "benign" "" "0000277867" "0" "10" "16" "1570312" "1570312" "subst" "0.000312767" "02330" "IFT140_000018" "g.1570312C>T" "" "" "" "IFT140(NM_014714.3):c.3693G>A (p.T1231=, p.(Thr1231=)), IFT140(NM_014714.4):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520311C>T" "" "benign" "" "0000277868" "0" "10" "16" "1570294" "1570294" "subst" "0.00245689" "02330" "IFT140_000017" "g.1570294G>A" "" "" "" "IFT140(NM_014714.3):c.3711C>T (p.F1237=), IFT140(NM_014714.4):c.3711C>T (p.F1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520293G>A" "" "benign" "" "0000277869" "0" "30" "16" "1570059" "1570059" "subst" "0.00169344" "02330" "IFT140_000014" "g.1570059G>A" "" "" "" "IFT140(NM_014714.4):c.3874-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520058G>A" "" "likely benign" "" "0000277870" "0" "10" "16" "1569934" "1569934" "subst" "0.00134738" "02330" "IFT140_000012" "g.1569934C>T" "" "" "" "IFT140(NM_014714.3):c.3988G>A (p.(Ala1330Thr)), IFT140(NM_014714.4):c.3988G>A (p.A1330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1519933C>T" "" "benign" "" "0000277871" "0" "10" "16" "1569872" "1569872" "subst" "0.00399486" "02330" "IFT140_000011" "g.1569872G>A" "" "" "" "IFT140(NM_014714.3):c.4040+10C>T (p.(=)), IFT140(NM_014714.4):c.4040+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1519871G>A" "" "benign" "" "0000277872" "0" "10" "16" "1642339" "1642339" "subst" "0.000735641" "02330" "IFT140_000055" "g.1642339G>A" "" "" "" "IFT140(NM_014714.3):c.492-20C>T (p.(=)), IFT140(NM_014714.4):c.492-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1592338G>A" "" "benign" "" "0000277873" "0" "10" "16" "1642265" "1642265" "subst" "0.00179884" "02330" "IFT140_000054" "g.1642265G>A" "" "" "" "IFT140(NM_014714.4):c.546C>T (p.D182=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1592264G>A" "" "benign" "" "0000281486" "0" "10" "16" "1657284" "1657284" "subst" "0.401422" "02325" "IFT140_000060" "g.1657284C>G" "" "" "" "IFT140(NM_014714.3):c.-17G>C, IFT140(NM_014714.4):c.-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1607283C>G" "" "benign" "" "0000281487" "0" "10" "16" "1574863" "1574863" "subst" "0.194213" "02325" "IFT140_000027" "g.1574863G>A" "" "" "" "IFT140(NM_014714.3):c.2919C>T (p.A973=), IFT140(NM_014714.4):c.2919C>T (p.A973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524862G>A" "" "benign" "" "0000281488" "0" "10" "16" "1573890" "1573890" "subst" "0.0929127" "02325" "IFT140_000024" "g.1573890G>A" "" "" "" "IFT140(NM_014714.3):c.3209C>T (p.A1070V), IFT140(NM_014714.4):c.3209C>T (p.A1070V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523889G>A" "" "benign" "" "0000281489" "0" "10" "16" "1639793" "1639793" "subst" "0.168339" "02325" "IFT140_000052" "g.1639793C>G" "" "" "" "IFT140(NM_014714.3):c.635-12G>C, IFT140(NM_014714.4):c.635-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1589792C>G" "" "benign" "" "0000285168" "0" "10" "16" "1574615" "1574615" "subst" "0.00383233" "02326" "IFT140_000026" "g.1574615C>T" "" "" "" "IFT140(NM_014714.3):c.3079G>A (p.G1027R), IFT140(NM_014714.4):c.3079G>A (p.G1027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524614C>T" "" "benign" "" "0000285169" "0" "10" "16" "1638000" "1638000" "subst" "0.0506894" "02326" "IFT140_000050" "g.1638000C>G" "" "" "" "IFT140(NM_014714.3):c.836G>C (p.R279P, p.(Arg279Pro)), IFT140(NM_014714.4):c.836G>C (p.R279P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1587999C>G" "" "benign" "" "0000289449" "0" "10" "16" "1657284" "1657284" "subst" "0.401422" "01943" "IFT140_000060" "g.1657284C>G" "" "" "" "IFT140(NM_014714.3):c.-17G>C, IFT140(NM_014714.4):c.-17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1607283C>G" "" "benign" "" "0000289450" "0" "10" "16" "1634385" "1634385" "subst" "0.0658792" "01943" "IFT140_000049" "g.1634385C>T" "" "" "" "IFT140(NM_014714.3):c.1192G>A (p.V398I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1584384C>T" "" "benign" "" "0000289451" "0" "50" "16" "1634273" "1634273" "subst" "6.92385E-5" "01943" "IFT140_000048" "g.1634273C>T" "" "" "" "IFT140(NM_014714.3):c.1304G>A (p.G435E), IFT140(NM_014714.4):c.1304G>A (p.(Gly435Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1584272C>T" "" "VUS" "" "0000289452" "0" "50" "16" "1634241" "1634241" "subst" "0.00189981" "01943" "IFT140_000047" "g.1634241T>C" "" "" "" "IFT140(NM_014714.3):c.1336A>G (p.I446V, p.(Ile446Val)), IFT140(NM_014714.4):c.1336A>G (p.I446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1584240T>C" "" "VUS" "" "0000289453" "0" "50" "16" "1621518" "1621519" "delins" "0" "01943" "IFT140_000045" "g.1621518_1621519delinsTT" "" "" "" "IFT140(NM_014714.3):c.1541_1542delTCinsAA (p.L514Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571517_1571518delinsTT" "" "VUS" "" "0000289454" "0" "30" "16" "1621518" "1621518" "subst" "0.00419494" "01943" "IFT140_000044" "g.1621518G>T" "" "" "" "IFT140(NM_014714.3):c.1542C>A (p.L514=, p.(Leu514=)), IFT140(NM_014714.4):c.1542C>A (p.L514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571517G>T" "" "likely benign" "" "0000289455" "0" "10" "16" "1616201" "1616201" "subst" "0.0871907" "01943" "IFT140_000041" "g.1616201C>T" "" "" "" "IFT140(NM_014714.3):c.1862G>A (p.R621Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1566200C>T" "" "benign" "" "0000289456" "0" "30" "16" "1612052" "1612052" "subst" "4.08827E-6" "01943" "IFT140_000038" "g.1612052G>A" "" "" "" "IFT140(NM_014714.3):c.2133C>T (p.F711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1562051G>A" "" "likely benign" "" "0000289457" "0" "50" "16" "1576711" "1576711" "subst" "0" "01943" "IFT140_000031" "g.1576711T>C" "" "" "" "IFT140(NM_014714.3):c.2486A>G (p.H829R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1526710T>C" "" "VUS" "" "0000289458" "0" "30" "16" "1575995" "1575995" "subst" "1.83889E-5" "01943" "IFT140_000030" "g.1575995C>T" "" "" "" "IFT140(NM_014714.3):c.2661G>A (p.E887=), IFT140(NM_014714.4):c.2661G>A (p.E887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1525994C>T" "" "likely benign" "" "0000289459" "0" "10" "16" "1574863" "1574863" "subst" "0.194213" "01943" "IFT140_000027" "g.1574863G>A" "" "" "" "IFT140(NM_014714.3):c.2919C>T (p.A973=), IFT140(NM_014714.4):c.2919C>T (p.A973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1524862G>A" "" "benign" "" "0000289460" "0" "10" "16" "1573890" "1573890" "subst" "0.0929127" "01943" "IFT140_000024" "g.1573890G>A" "" "" "" "IFT140(NM_014714.3):c.3209C>T (p.A1070V), IFT140(NM_014714.4):c.3209C>T (p.A1070V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1523889G>A" "" "benign" "" "0000289462" "0" "30" "16" "1570312" "1570312" "subst" "0.000312767" "01943" "IFT140_000018" "g.1570312C>T" "" "" "" "IFT140(NM_014714.3):c.3693G>A (p.T1231=, p.(Thr1231=)), IFT140(NM_014714.4):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520311C>T" "" "likely benign" "" "0000289463" "0" "30" "16" "1570294" "1570294" "subst" "0.00245689" "01943" "IFT140_000017" "g.1570294G>A" "" "" "" "IFT140(NM_014714.3):c.3711C>T (p.F1237=), IFT140(NM_014714.4):c.3711C>T (p.F1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520293G>A" "" "likely benign" "" "0000289464" "0" "30" "16" "1570216" "1570216" "subst" "6.09097E-5" "01943" "IFT140_000015" "g.1570216C>T" "" "" "" "IFT140(NM_014714.3):c.3789G>A (p.P1263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520215C>T" "" "likely benign" "" "0000289465" "0" "50" "16" "1569975" "1569980" "del" "0" "01943" "IFT140_000013" "g.1569975_1569980del" "" "" "" "IFT140(NM_014714.3):c.3955_3960del (p.(Ala1319_Lys1320del)), IFT140(NM_014714.3):c.3955_3960delGCCAAG (p.A1319_K1320del), IFT140(NM_014714.4):c.395..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1519974_1519979del" "" "VUS" "" "0000289466" "0" "30" "16" "1642549" "1642549" "subst" "0.000264097" "01943" "IFT140_000056" "g.1642549C>T" "" "" "" "IFT140(NM_014714.3):c.410G>A (p.R137Q, p.(Arg137Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1592548C>T" "" "likely benign" "" "0000289467" "0" "50" "16" "1642207" "1642207" "subst" "4.06085E-6" "01943" "IFT140_000053" "g.1642207C>T" "" "" "" "IFT140(NM_014714.3):c.604G>A (p.G202R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1592206C>T" "" "VUS" "" "0000289468" "0" "10" "16" "1639793" "1639793" "subst" "0.168339" "01943" "IFT140_000052" "g.1639793C>G" "" "" "" "IFT140(NM_014714.3):c.635-12G>C, IFT140(NM_014714.4):c.635-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1589792C>G" "" "benign" "" "0000289469" "0" "30" "16" "1639721" "1639721" "subst" "2.84259E-5" "01943" "IFT140_000051" "g.1639721G>A" "" "" "" "IFT140(NM_014714.3):c.695C>T (p.T232M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1589720G>A" "" "likely benign" "" "0000289470" "0" "10" "16" "1638000" "1638000" "subst" "0.0506894" "01943" "IFT140_000050" "g.1638000C>G" "" "" "" "IFT140(NM_014714.3):c.836G>C (p.R279P, p.(Arg279Pro)), IFT140(NM_014714.4):c.836G>C (p.R279P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1587999C>G" "" "benign" "" "0000309214" "0" "10" "16" "1605044" "1605044" "subst" "0.0549184" "02330" "IFT140_000036" "g.1605044C>T" "" "" "" "IFT140(NM_014714.4):c.2399+2892G>A, TMEM204(NM_024600.6):c.*17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1555043C>T" "" "benign" "" "0000324424" "0" "50" "16" "1621519" "1621519" "subst" "0.00419191" "01804" "IFT140_000046" "g.1621519A>T" "" "" "" "IFT140(NM_014714.3):c.1541T>A (p.L514H, p.(Leu514His)), IFT140(NM_014714.4):c.1541T>A (p.L514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571518A>T" "" "VUS" "" "0000339506" "0" "10" "16" "1608082" "1608082" "subst" "0.24784" "02327" "IFT140_000037" "g.1608082A>G" "" "" "" "IFT140(NM_014714.3):c.2253T>C (p.P751=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1558081A>G" "" "benign" "" "0000341920" "0" "50" "16" "1561037" "1561037" "subst" "0.000828865" "02327" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1511036G>A" "" "VUS" "" "0000348170" "0" "50" "16" "1570217" "1570217" "subst" "8.12117E-6" "02327" "IFT140_000063" "g.1570217G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1520216G>A" "" "VUS" "" "0000348564" "0" "70" "16" "1652528" "1652528" "subst" "1.62537E-5" "02327" "IFT140_000068" "g.1652528G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1602527G>A" "" "likely pathogenic" "" "0000350216" "0" "70" "16" "1575889" "1575889" "subst" "0" "02327" "IFT140_000064" "g.1575889A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1525888A>C" "" "likely pathogenic" "" "0000350733" "0" "50" "16" "1621405" "1621405" "subst" "0" "02327" "IFT140_000065" "g.1621405T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1571404T>A" "" "VUS" "" "0000350734" "0" "90" "16" "1637198" "1637198" "subst" "0" "02327" "IFT140_000066" "g.1637198C>A" "" "" "" "IFT140(NM_014714.3):c.1009+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.1587197C>A" "" "pathogenic" "" "0000368952" "0" "70" "16" "1612119" "1612119" "subst" "4.62792E-6" "01807" "IFT140_000069" "g.1612119T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.1562118T>C" "" "likely pathogenic" "" "0000477108" "0" "50" "16" "1560995" "1560995" "subst" "8.30117E-6" "02591" "IFT140_000070" "g.1560995C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1510994C>A" "" "VUS" "" "0000477109" "0" "50" "16" "1561126" "1561128" "dup" "0" "02591" "IFT140_000071" "g.1561126_1561128dup" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs754312950" "0" "" "" "g.1511125_1511127dup" "" "VUS" "" "0000477110" "0" "50" "16" "1568267" "1568267" "subst" "4.06395E-6" "02591" "IFT140_000072" "g.1568267C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs750708238" "0" "" "" "g.1518266C>T" "" "VUS" "" "0000477111" "0" "50" "16" "1568326" "1568326" "subst" "1.221E-5" "02591" "IFT140_000073" "g.1568326T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs763363588" "0" "" "" "g.1518325T>C" "" "VUS" "" "0000477112" "0" "50" "16" "1569934" "1569934" "subst" "0.00134738" "02591" "IFT140_000012" "g.1569934C>T" "18/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200699325" "0" "" "" "g.1519933C>T" "" "VUS" "" "0000477113" "0" "50" "16" "1570617" "1570617" "subst" "0" "02591" "IFT140_000074" "g.1570617C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs754891717" "0" "" "" "g.1520616C>T" "" "VUS" "" "0000477114" "0" "50" "16" "1570661" "1570661" "subst" "6.53293E-5" "02591" "IFT140_000075" "g.1570661C>T" "24/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147292597" "0" "" "" "g.1520660C>T" "" "VUS" "" "0000477115" "0" "50" "16" "1573569" "1573569" "subst" "3.25608E-5" "02591" "IFT140_000076" "g.1573569C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs774170824" "0" "" "" "g.1523568C>T" "" "VUS" "" "0000477116" "0" "50" "16" "1573634" "1573634" "subst" "0" "02591" "IFT140_000077" "g.1573634A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1523633A>G" "" "VUS" "" "0000477117" "0" "90" "16" "1573703" "1573703" "subst" "0" "02591" "IFT140_000078" "g.1573703T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1523702T>G" "" "pathogenic" "" "0000477118" "0" "50" "16" "1573853" "1573853" "subst" "0" "02591" "IFT140_000079" "g.1573853G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1523852G>C" "" "VUS" "" "0000477119" "0" "50" "16" "1573884" "1573884" "subst" "4.48606E-5" "02591" "IFT140_000080" "g.1573884C>T" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201884886" "0" "" "" "g.1523883C>T" "" "VUS" "" "0000477120" "0" "90" "16" "1573885" "1573885" "subst" "0" "02591" "IFT140_000081" "g.1573885G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1523884G>A" "" "pathogenic" "" "0000477121" "0" "10" "16" "1573890" "1573890" "subst" "0.0929127" "02591" "IFT140_000024" "g.1573890G>A" "297/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2235638" "0" "" "" "g.1523889G>A" "" "benign" "" "0000477122" "0" "10" "16" "1574615" "1574615" "subst" "0.00383233" "02591" "IFT140_000026" "g.1574615C>T" "81/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs137995818" "0" "" "" "g.1524614C>T" "" "benign" "" "0000477123" "0" "90" "16" "1574675" "1574682" "del" "0" "02591" "IFT140_000082" "g.1574675_1574682del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1524674_1524681del" "" "pathogenic" "" "0000477124" "0" "50" "16" "1574782" "1574782" "subst" "0" "02591" "IFT140_000083" "g.1574782T>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1524781T>C" "" "VUS" "" "0000477125" "0" "50" "16" "1574837" "1574837" "subst" "1.62982E-5" "02591" "IFT140_000084" "g.1574837C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs766316995" "0" "" "" "g.1524836C>T" "" "VUS" "" "0000477126" "0" "50" "16" "1574847" "1574847" "subst" "0.00013445" "02591" "IFT140_000085" "g.1574847C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs146277966" "0" "" "" "g.1524846C>T" "" "VUS" "" "0000477127" "0" "50" "16" "1575310" "1575310" "subst" "4.0835E-5" "02591" "IFT140_000086" "g.1575310G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs757585192" "0" "" "" "g.1525309G>A" "" "VUS" "" "0000477128" "0" "90" "16" "1575324" "1575324" "subst" "0" "02591" "IFT140_000087" "g.1575324G>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1525323G>C" "" "pathogenic" "" "0000477129" "0" "90" "16" "1575885" "1575888" "subst" "0" "02591" "IFT140_000088" "g.1575885_1575888del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs769075694" "0" "" "" "g.1525884_1525887del" "" "pathogenic" "" "0000477130" "0" "50" "16" "1575901" "1575901" "subst" "0.000281303" "02591" "IFT140_000089" "g.1575901G>C" "9/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs548992623" "0" "" "" "g.1525900G>C" "" "VUS" "" "0000477131" "0" "50" "16" "1575922" "1575922" "subst" "0" "02591" "IFT140_000090" "g.1575922C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1525921C>T" "" "VUS" "" "0000477132" "0" "50" "16" "1575939" "1575939" "subst" "2.72851E-5" "02591" "IFT140_000091" "g.1575939C>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1525938C>A" "" "VUS" "" "0000477133" "0" "50" "16" "1575987" "1575987" "subst" "0" "02591" "IFT140_000092" "g.1575987T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1525986T>G" "" "VUS" "" "0000477134" "0" "50" "16" "1576011" "1576011" "subst" "0" "02591" "IFT140_000093" "g.1576011G>A" "12/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200394007" "0" "" "" "g.1526010G>A" "" "VUS" "" "0000477135" "0" "50" "16" "1576655" "1576655" "subst" "0.000272387" "02591" "IFT140_000094" "g.1576655G>A" "5/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201384469" "0" "" "" "g.1526654G>A" "" "VUS" "" "0000477136" "0" "50" "16" "1576669" "1576669" "subst" "0.000304744" "02591" "IFT140_000095" "g.1576669G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs774864079" "0" "" "" "g.1526668G>A" "" "VUS" "" "0000477137" "0" "50" "16" "1576751" "1576751" "subst" "0.000253942" "02591" "IFT140_000096" "g.1576751G>A" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs549813139" "0" "" "" "g.1526750G>A" "" "VUS" "" "0000477138" "0" "50" "16" "1608018" "1608018" "subst" "2.03029E-5" "02591" "IFT140_000097" "g.1608018G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs202236303" "0" "" "" "g.1558017G>A" "" "VUS" "" "0000477139" "0" "50" "16" "1608056" "1608056" "subst" "8.12123E-6" "02591" "IFT140_000098" "g.1608056C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs780086795" "0" "" "" "g.1558055C>T" "" "VUS" "" "0000477140" "0" "50" "16" "1612047" "1612047" "subst" "6.56028E-5" "02591" "IFT140_000099" "g.1612047C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200440483" "0" "" "" "g.1562046C>T" "" "VUS" "" "0000477141" "0" "50" "16" "1614014" "1614014" "subst" "0" "02591" "IFT140_000100" "g.1614014C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1564013C>T" "" "VUS" "" "0000477142" "3" "50" "16" "1614092" "1614092" "subst" "0" "02591" "IFT140_000101" "g.1614092G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1564091G>A" "" "VUS" "" "0000477143" "0" "10" "16" "1616201" "1616201" "subst" "0.0871907" "02591" "IFT140_000041" "g.1616201C>T" "262/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11648609" "0" "" "" "g.1566200C>T" "" "benign" "" "0000477144" "0" "90" "16" "1621535" "1621536" "subst" "0" "02591" "IFT140_000102" "g.1621535_1621536del" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1571534_1571535del" "" "pathogenic" "" "0000477145" "0" "50" "16" "1630770" "1630770" "subst" "4.06157E-6" "02591" "IFT140_000103" "g.1630770C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs867074389" "0" "" "" "g.1580769C>T" "" "VUS" "" "0000477146" "0" "50" "16" "1630828" "1630828" "subst" "1.21864E-5" "02591" "IFT140_000104" "g.1630828C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs748106804" "0" "" "" "g.1580827C>T" "" "VUS" "" "0000477147" "0" "50" "16" "1630839" "1630839" "subst" "0" "02591" "IFT140_000105" "g.1630839C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1580838C>T" "" "VUS" "" "0000477148" "0" "50" "16" "1633342" "1633342" "subst" "1.62577E-5" "02591" "IFT140_000106" "g.1633342G>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs190034269" "0" "" "" "g.1583341G>T" "" "VUS" "" "0000477149" "0" "10" "16" "1634385" "1634385" "subst" "0.0658792" "02591" "IFT140_000049" "g.1634385C>T" "110/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs34762152" "0" "" "" "g.1584384C>T" "" "benign" "" "0000477150" "0" "50" "16" "1637216" "1637216" "subst" "0" "02591" "IFT140_000107" "g.1637216C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1587215C>T" "" "VUS" "" "0000477151" "0" "50" "16" "1637950" "1637950" "subst" "3.71189E-5" "02591" "IFT140_000108" "g.1637950C>T" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs574450870" "0" "" "" "g.1587949C>T" "" "VUS" "" "0000477152" "0" "50" "16" "1639644" "1639644" "subst" "4.46708E-5" "02591" "IFT140_000109" "g.1639644T>A" "48/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs141254616" "0" "" "" "g.1589643T>A" "" "VUS" "" "0000477153" "0" "50" "16" "1639740" "1639740" "subst" "1.21831E-5" "02591" "IFT140_000110" "g.1639740C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs763180833" "0" "" "" "g.1589739C>A" "" "VUS" "" "0000477154" "0" "50" "16" "1639742" "1639742" "subst" "0" "02591" "IFT140_000111" "g.1639742T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1589741T>C" "" "VUS" "" "0000477155" "0" "50" "16" "1642285" "1642285" "subst" "2.03044E-5" "02591" "IFT140_000117" "g.1642285C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs201849591" "0" "" "" "g.1592284C>T" "" "VUS" "" "0000477156" "0" "50" "16" "1642464" "1642464" "subst" "0" "02591" "IFT140_000112" "g.1642464T>C" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1592463T>C" "" "VUS" "" "0000477157" "0" "50" "16" "1652381" "1652381" "subst" "0" "02591" "IFT140_000113" "g.1652381G>C" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1602380G>C" "" "VUS" "" "0000477158" "3" "50" "16" "1652525" "1652525" "subst" "4.87496E-5" "02591" "IFT140_000114" "g.1652525G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs774892063" "0" "" "" "g.1602524G>A" "" "VUS" "" "0000477159" "0" "50" "16" "1652553" "1652553" "subst" "3.65976E-5" "02591" "IFT140_000115" "g.1652553G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs377484899" "0" "" "" "g.1602552G>A" "" "VUS" "" "0000477160" "3" "50" "16" "1657185" "1657185" "subst" "0" "02591" "IFT140_000116" "g.1657185G>T" "1/1202 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.1607184G>T" "" "VUS" "" "0000477591" "3" "10" "16" "1573890" "1573890" "subst" "0.0929127" "02591" "IFT140_000024" "g.1573890G>A" "24/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2235638" "0" "" "" "g.1523889G>A" "" "benign" "" "0000477592" "3" "10" "16" "1616201" "1616201" "subst" "0.0871907" "02591" "IFT140_000041" "g.1616201C>T" "11/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs11648609" "0" "" "" "g.1566200C>T" "" "benign" "" "0000477593" "3" "10" "16" "1634385" "1634385" "subst" "0.0658792" "02591" "IFT140_000049" "g.1634385C>T" "6/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs34762152" "0" "" "" "g.1584384C>T" "" "benign" "" "0000477594" "3" "50" "16" "1639644" "1639644" "subst" "4.46708E-5" "02591" "IFT140_000109" "g.1639644T>A" "2/1203 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs141254616" "0" "" "" "g.1589643T>A" "" "VUS" "" "0000487563" "0" "90" "16" "1575310" "1575310" "del" "4.08327E-6" "03335" "IFT140_000119" "g.1575310del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1525309del" "" "pathogenic (recessive)" "" "0000487564" "3" "90" "16" "1561082" "1561082" "subst" "0" "03335" "IFT140_000118" "g.1561082G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1511081G>A" "" "pathogenic (recessive)" "" "0000556688" "0" "30" "16" "1550409" "1550409" "subst" "0.0113903" "01804" "IFT140_000121" "g.1550409C>T" "" "" "" "TELO2(NM_016111.3):c.1064C>T (p.(Pro355Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1500408C>T" "" "likely benign" "" "0000556689" "0" "50" "16" "1551445" "1551445" "subst" "8.22247E-6" "01943" "IFT140_000122" "g.1551445G>A" "" "" "" "TELO2(NM_016111.3):c.1306G>A (p.E436K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1501444G>A" "" "VUS" "" "0000556690" "0" "30" "16" "1561031" "1561031" "subst" "3.45411E-5" "01804" "IFT140_000123" "g.1561031C>T" "" "" "" "IFT140(NM_014714.3):c.4303G>A (p.(Val1435Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511030C>T" "" "likely benign" "" "0000556691" "0" "10" "16" "1561037" "1561037" "subst" "0.000828865" "02330" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511036G>A" "" "benign" "" "0000556692" "0" "30" "16" "1561037" "1561037" "subst" "0.000828865" "01943" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511036G>A" "" "likely benign" "" "0000556693" "0" "30" "16" "1561037" "1561037" "subst" "0.000828865" "01804" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511036G>A" "" "likely benign" "" "0000556694" "0" "10" "16" "1561171" "1561171" "subst" "2.66377E-5" "02330" "IFT140_000124" "g.1561171A>G" "" "" "" "IFT140(NM_014714.4):c.4183-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1511170A>G" "" "benign" "" "0000556695" "0" "30" "16" "1568268" "1568268" "subst" "2.03199E-5" "01943" "IFT140_000125" "g.1568268G>A" "" "" "" "IFT140(NM_014714.3):c.4131C>T (p.D1377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1518267G>A" "" "likely benign" "" "0000556696" "0" "30" "16" "1569872" "1569872" "subst" "0.00399486" "01943" "IFT140_000011" "g.1569872G>A" "" "" "" "IFT140(NM_014714.3):c.4040+10C>T (p.(=)), IFT140(NM_014714.4):c.4040+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1519871G>A" "" "likely benign" "" "0000556697" "0" "30" "16" "1569929" "1569929" "subst" "0.00216072" "02330" "IFT140_000126" "g.1569929C>G" "" "" "" "IFT140(NM_014714.3):c.3993G>C (p.Q1331H, p.(Gln1331His)), IFT140(NM_014714.4):c.3993G>C (p.Q1331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1519928C>G" "" "likely benign" "" "0000556698" "0" "50" "16" "1569975" "1569980" "del" "0" "02330" "IFT140_000013" "g.1569975_1569980del" "" "" "" "IFT140(NM_014714.3):c.3955_3960del (p.(Ala1319_Lys1320del)), IFT140(NM_014714.3):c.3955_3960delGCCAAG (p.A1319_K1320del), IFT140(NM_014714.4):c.395..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1519974_1519979del" "" "VUS" "" "0000556699" "0" "10" "16" "1570058" "1570058" "subst" "0.000107612" "02330" "IFT140_000127" "g.1570058T>G" "" "" "" "IFT140(NM_014714.3):c.3874-10A>C, IFT140(NM_014714.4):c.3874-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520057T>G" "" "benign" "" "0000556700" "0" "30" "16" "1570058" "1570058" "subst" "0.000107612" "01943" "IFT140_000127" "g.1570058T>G" "" "" "" "IFT140(NM_014714.3):c.3874-10A>C, IFT140(NM_014714.4):c.3874-10A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520057T>G" "" "likely benign" "" "0000556701" "0" "50" "16" "1570194" "1570194" "subst" "8.1213E-6" "02330" "IFT140_000128" "g.1570194C>A" "" "" "" "IFT140(NM_014714.4):c.3811G>T (p.G1271C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520193C>A" "" "VUS" "" "0000556702" "0" "50" "16" "1570287" "1570287" "subst" "7.30947E-5" "02330" "IFT140_000129" "g.1570287C>T" "" "" "" "IFT140(NM_014714.4):c.3718G>A (p.V1240M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520286C>T" "" "VUS" "" "0000556703" "0" "10" "16" "1570321" "1570321" "subst" "0.000150351" "02330" "IFT140_000130" "g.1570321G>A" "" "" "" "IFT140(NM_014714.4):c.3684C>T (p.S1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520320G>A" "" "benign" "" "0000556704" "0" "50" "16" "1570738" "1570738" "subst" "2.04879E-5" "02327" "IFT140_000131" "g.1570738G>C" "" "" "" "IFT140(NM_014714.3):c.3525C>G (p.(Thr1175=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520737G>C" "" "VUS" "" "0000556706" "0" "50" "16" "1573711" "1573711" "subst" "1.22933E-5" "02330" "IFT140_000132" "g.1573711C>T" "" "" "" "IFT140(NM_014714.4):c.3271-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1523710C>T" "" "VUS" "" "0000556707" "0" "50" "16" "1574608" "1574608" "subst" "4.15465E-5" "01943" "IFT140_000133" "g.1574608G>A" "" "" "" "IFT140(NM_014714.3):c.3086C>T (p.A1029V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524607G>A" "" "VUS" "" "0000556708" "0" "10" "16" "1574615" "1574615" "subst" "0.00383233" "01943" "IFT140_000026" "g.1574615C>T" "" "" "" "IFT140(NM_014714.3):c.3079G>A (p.G1027R), IFT140(NM_014714.4):c.3079G>A (p.G1027R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524614C>T" "" "benign" "" "0000556709" "0" "50" "16" "1574787" "1574787" "subst" "0" "02330" "IFT140_000134" "g.1574787T>G" "" "" "" "IFT140(NM_014714.4):c.2995A>C (p.K999Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524786T>G" "" "VUS" "" "0000556710" "0" "10" "16" "1574794" "1574794" "subst" "0.000636345" "02330" "IFT140_000135" "g.1574794A>G" "" "" "" "IFT140(NM_014714.3):c.2988T>C (p.N996=), IFT140(NM_014714.4):c.2988T>C (p.N996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524793A>G" "" "benign" "" "0000556712" "0" "30" "16" "1575309" "1575309" "subst" "0.000232746" "02330" "IFT140_000137" "g.1575309C>T" "" "" "" "IFT140(NM_014714.3):c.2787G>A (p.T929=), IFT140(NM_014714.4):c.2787G>A (p.T929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1525308C>T" "" "likely benign" "" "0000556713" "0" "30" "16" "1575309" "1575309" "subst" "0.000232746" "01943" "IFT140_000137" "g.1575309C>T" "" "" "" "IFT140(NM_014714.3):c.2787G>A (p.T929=), IFT140(NM_014714.4):c.2787G>A (p.T929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1525308C>T" "" "likely benign" "" "0000556714" "0" "30" "16" "1575901" "1575901" "subst" "0.000281303" "01943" "IFT140_000089" "g.1575901G>C" "" "" "" "IFT140(NM_014714.3):c.2755C>G (p.R919G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1525900G>C" "" "likely benign" "" "0000556715" "0" "50" "16" "1576020" "1576020" "subst" "0" "01943" "IFT140_000138" "g.1576020T>C" "" "" "" "IFT140(NM_014714.3):c.2636A>G (p.Y879C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526019T>C" "" "VUS" "" "0000556717" "0" "10" "16" "1576073" "1576073" "subst" "7.27931E-5" "02330" "IFT140_000140" "g.1576073G>A" "" "" "" "IFT140(NM_014714.3):c.2583C>T (p.D861=), IFT140(NM_014714.4):c.2583C>T (p.D861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526072G>A" "" "benign" "" "0000556718" "0" "10" "16" "1576628" "1576628" "subst" "0.00310376" "02330" "IFT140_000141" "g.1576628C>T" "" "" "" "IFT140(NM_014714.3):c.2569G>A (p.G857S, p.(Gly857Ser)), IFT140(NM_014714.4):c.2569G>A (p.G857S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526627C>T" "" "benign" "" "0000556719" "0" "50" "16" "1576628" "1576628" "subst" "0.00310376" "01943" "IFT140_000141" "g.1576628C>T" "" "" "" "IFT140(NM_014714.3):c.2569G>A (p.G857S, p.(Gly857Ser)), IFT140(NM_014714.4):c.2569G>A (p.G857S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526627C>T" "" "VUS" "" "0000556885" "0" "50" "16" "1612095" "1612095" "subst" "0" "02330" "IFT140_000142" "g.1612095A>G" "" "" "" "IFT140(NM_014714.4):c.2090T>C (p.F697S, p.(Phe697Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1562094A>G" "" "VUS" "" "0000556886" "0" "30" "16" "1613994" "1613994" "subst" "0.00011649" "01943" "IFT140_000039" "g.1613994G>A" "" "" "" "IFT140(NM_014714.3):c.2067+4C>T, IFT140(NM_014714.4):c.2067+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1563993G>A" "" "likely benign" "" "0000556887" "0" "30" "16" "1614057" "1614057" "subst" "0.00521859" "01804" "IFT140_000143" "g.1614057G>A" "" "" "" "IFT140(NM_014714.3):c.2008C>T (p.(Pro670Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1564056G>A" "" "likely benign" "" "0000556888" "0" "50" "16" "1614090" "1614090" "subst" "4.0848E-5" "01943" "IFT140_000144" "g.1614090G>A" "" "" "" "IFT140(NM_014714.3):c.1975C>T (p.R659W, p.(Arg659Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1564089G>A" "" "VUS" "" "0000556889" "0" "30" "16" "1614147" "1614147" "subst" "0.00544465" "01804" "IFT140_000145" "g.1614147C>T" "" "" "" "IFT140(NM_014714.3):c.1918G>A (p.(Asp640Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1564146C>T" "" "likely benign" "" "0000556890" "0" "30" "16" "1616232" "1616232" "subst" "0.00079184" "01943" "IFT140_000042" "g.1616232C>T" "" "" "" "IFT140(NM_014714.3):c.1831G>A (p.V611I, p.(Val611Ile)), IFT140(NM_014714.4):c.1831G>A (p.V611I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1566231C>T" "" "likely benign" "" "0000556891" "0" "30" "16" "1616239" "1616239" "subst" "0.000966443" "01943" "IFT140_000146" "g.1616239T>C" "" "" "" "IFT140(NM_014714.3):c.1824A>G (p.T608=), IFT140(NM_014714.4):c.1824A>G (p.T608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1566238T>C" "" "likely benign" "" "0000556892" "0" "50" "16" "1618247" "1618247" "subst" "0" "02327" "IFT140_000147" "g.1618247C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1568246C>T" "" "VUS" "" "0000556893" "0" "90" "16" "1621495" "1621495" "subst" "0.000129975" "01943" "IFT140_000003" "g.1621495C>T" "" "" "" "IFT140(NM_014714.3):c.1565G>A (p.G522E), IFT140(NM_014714.4):c.1565G>A (p.G522E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1571494C>T" "" "pathogenic" "" "0000556894" "0" "10" "16" "1621519" "1621519" "subst" "0.00419191" "02330" "IFT140_000046" "g.1621519A>T" "" "" "" "IFT140(NM_014714.3):c.1541T>A (p.L514H, p.(Leu514His)), IFT140(NM_014714.4):c.1541T>A (p.L514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1571518A>T" "" "benign" "" "0000556895" "0" "30" "16" "1621519" "1621519" "subst" "0.00419191" "01943" "IFT140_000046" "g.1621519A>T" "" "" "" "IFT140(NM_014714.3):c.1541T>A (p.L514H, p.(Leu514His)), IFT140(NM_014714.4):c.1541T>A (p.L514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1571518A>T" "" "likely benign" "" "0000556968" "0" "30" "16" "1630757" "1630757" "subst" "0.00128358" "01804" "IFT140_000148" "g.1630757T>C" "" "" "" "IFT140(NM_014714.3):c.1524+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1580756T>C" "" "likely benign" "" "0000556981" "0" "30" "16" "1634255" "1634255" "subst" "4.48189E-5" "01943" "IFT140_000149" "g.1634255C>T" "" "" "" "IFT140(NM_014714.3):c.1322G>A (p.R441H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584254C>T" "" "likely benign" "" "0000556982" "0" "30" "16" "1634267" "1634267" "subst" "4.48029E-5" "01943" "IFT140_000150" "g.1634267G>A" "" "" "" "IFT140(NM_014714.3):c.1310C>T (p.A437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584266G>A" "" "likely benign" "" "0000556983" "0" "50" "16" "1634361" "1634361" "subst" "1.23136E-5" "02327" "IFT140_000151" "g.1634361C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584360C>T" "" "VUS" "" "0000556984" "0" "30" "16" "1637200" "1637200" "subst" "0" "02330" "IFT140_000152" "g.1637200T>C" "" "" "" "IFT140(NM_014714.4):c.1008A>G (p.K336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1587199T>C" "" "likely benign" "" "0000556985" "0" "30" "16" "1637997" "1637997" "subst" "0.00541003" "01804" "IFT140_000153" "g.1637997C>T" "" "" "" "IFT140(NM_014714.3):c.839G>A (p.(Arg280Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1587996C>T" "" "likely benign" "" "0000556986" "0" "30" "16" "1638000" "1638000" "subst" "0.0506894" "01804" "IFT140_000050" "g.1638000C>G" "" "" "" "IFT140(NM_014714.3):c.836G>C (p.R279P, p.(Arg279Pro)), IFT140(NM_014714.4):c.836G>C (p.R279P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1587999C>G" "" "likely benign" "" "0000556987" "0" "70" "16" "1639619" "1639621" "del" "0" "01943" "IFT140_000154" "g.1639619_1639621del" "" "" "" "IFT140(NM_014714.3):c.800_802delAAG (p.E267del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1589618_1589620del" "" "likely pathogenic" "" "0000556988" "0" "30" "16" "1639732" "1639732" "subst" "0.000101522" "01943" "IFT140_000155" "g.1639732G>A" "" "" "" "IFT140(NM_014714.3):c.684C>T (p.S228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1589731G>A" "" "likely benign" "" "0000556989" "0" "30" "16" "1642461" "1642461" "subst" "0.000594211" "02330" "IFT140_000156" "g.1642461C>T" "" "" "" "IFT140(NM_014714.4):c.491+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592460C>T" "" "likely benign" "" "0000556990" "0" "50" "16" "1642478" "1642478" "subst" "5.69133E-5" "01943" "IFT140_000157" "g.1642478G>T" "" "" "" "IFT140(NM_014714.3):c.481C>A (p.P161T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592477G>T" "" "VUS" "" "0000556991" "0" "30" "16" "1651722" "1651722" "dup" "0" "01943" "IFT140_000158" "g.1651722dup" "" "" "" "IFT140(NM_014714.3):c.369+649dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1601721dup" "" "likely benign" "" "0000556992" "0" "30" "16" "1652418" "1652418" "subst" "0.00703281" "01804" "IFT140_000159" "g.1652418C>T" "" "" "" "IFT140(NM_014714.3):c.322G>A (p.(Val108Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1602417C>T" "" "likely benign" "" "0000556993" "0" "30" "16" "1652561" "1652561" "subst" "2.8475E-5" "02327" "IFT140_000160" "g.1652561C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1602560C>T" "" "likely benign" "" "0000556994" "0" "30" "16" "1652568" "1652568" "subst" "4.07173E-6" "02330" "IFT140_000161" "g.1652568C>T" "" "" "" "IFT140(NM_014714.4):c.172G>A (p.V58I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1602567C>T" "" "likely benign" "" "0000556995" "0" "10" "16" "1657271" "1657271" "subst" "0.0015217" "02330" "IFT140_000162" "g.1657271G>A" "" "" "" "IFT140(NM_014714.4):c.-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1607270G>A" "" "benign" "" "0000615713" "0" "30" "16" "1544448" "1544448" "subst" "4.06683E-6" "01804" "IFT140_000163" "g.1544448T>C" "" "" "" "TELO2(NM_016111.3):c.166T>C (p.(Ser56Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1494447T>C" "" "likely benign" "" "0000615715" "0" "30" "16" "1559822" "1559822" "subst" "0.00331621" "01943" "IFT140_000164" "g.1559822G>T" "" "" "" "TELO2(NM_016111.3):c.2408-9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1509821G>T" "" "likely benign" "" "0000615716" "0" "30" "16" "1560982" "1560982" "subst" "0" "01943" "IFT140_000165" "g.1560982T>C" "" "" "" "IFT140(NM_014714.3):c.4352A>G (p.D1451G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1510981T>C" "" "likely benign" "" "0000615717" "0" "90" "16" "1570009" "1570009" "dup" "0" "02327" "IFT140_000166" "g.1570009dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520008dup" "" "pathogenic" "" "0000615719" "0" "30" "16" "1570624" "1570624" "subst" "8.78247E-5" "01943" "IFT140_000167" "g.1570624C>T" "" "" "" "IFT140(NM_014714.3):c.3639G>A (p.T1213=), IFT140(NM_014714.4):c.3639G>A (p.T1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520623C>T" "" "likely benign" "" "0000615720" "0" "50" "16" "1570763" "1570763" "subst" "0" "02330" "IFT140_000168" "g.1570763G>A" "" "" "" "IFT140(NM_014714.4):c.3500C>T (p.T1167I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1520762G>A" "" "VUS" "" "0000615721" "0" "30" "16" "1573895" "1573895" "subst" "8.15474E-6" "01943" "IFT140_000169" "g.1573895G>A" "" "" "" "IFT140(NM_014714.3):c.3204C>T (p.I1068=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1523894G>A" "" "likely benign" "" "0000615722" "0" "30" "16" "1574590" "1574590" "subst" "7.84877E-5" "01943" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524589C>T" "" "likely benign" "" "0000615723" "0" "30" "16" "1574590" "1574590" "subst" "7.84877E-5" "01804" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1524589C>T" "" "likely benign" "" "0000615724" "0" "30" "16" "1576628" "1576628" "subst" "0.00310376" "01804" "IFT140_000141" "g.1576628C>T" "" "" "" "IFT140(NM_014714.3):c.2569G>A (p.G857S, p.(Gly857Ser)), IFT140(NM_014714.4):c.2569G>A (p.G857S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526627C>T" "" "likely benign" "" "0000615725" "0" "10" "16" "1576647" "1576647" "subst" "0.00132766" "02330" "IFT140_000170" "g.1576647G>A" "" "" "" "IFT140(NM_014714.4):c.2550C>T (p.A850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526646G>A" "" "benign" "" "0000615754" "0" "30" "16" "1612085" "1612085" "subst" "1.2309E-5" "01943" "IFT140_000171" "g.1612085G>A" "" "" "" "IFT140(NM_014714.3):c.2100C>T (p.S700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1562084G>A" "" "likely benign" "" "0000615755" "0" "30" "16" "1616275" "1616275" "subst" "0.000617244" "02330" "IFT140_000043" "g.1616275A>G" "" "" "" "IFT140(NM_014714.3):c.1788T>C (p.D596=, p.(Asp596=)), IFT140(NM_014714.4):c.1788T>C (p.D596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1566274A>G" "" "likely benign" "" "0000615799" "0" "10" "16" "1630746" "1630746" "subst" "0.000625767" "02330" "IFT140_000173" "g.1630746G>C" "" "" "" "IFT140(NM_014714.4):c.1524+14C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1580745G>C" "" "benign" "" "0000615802" "0" "30" "16" "1634241" "1634241" "subst" "0.00189981" "02327" "IFT140_000047" "g.1634241T>C" "" "" "" "IFT140(NM_014714.3):c.1336A>G (p.I446V, p.(Ile446Val)), IFT140(NM_014714.4):c.1336A>G (p.I446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584240T>C" "" "likely benign" "" "0000615803" "0" "30" "16" "1634293" "1634293" "subst" "0" "02330" "IFT140_000174" "g.1634293A>G" "" "" "" "IFT140(NM_014714.4):c.1284T>C (p.N428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1584292A>G" "" "likely benign" "" "0000615804" "0" "30" "16" "1636203" "1636203" "subst" "0.00201927" "02330" "IFT140_000175" "g.1636203G>A" "" "" "" "IFT140(NM_014714.4):c.1083C>T (p.P361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1586202G>A" "" "likely benign" "" "0000615805" "0" "50" "16" "1642227" "1642227" "subst" "4.06081E-6" "01943" "IFT140_000176" "g.1642227A>G" "" "" "" "IFT140(NM_014714.3):c.584T>C (p.L195P), IFT140(NM_014714.4):c.584T>C (p.(Leu195Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592226A>G" "" "VUS" "" "0000615806" "0" "30" "16" "1642536" "1642536" "subst" "3.65583E-5" "02330" "IFT140_000177" "g.1642536C>T" "" "" "" "IFT140(NM_014714.4):c.423G>A (p.T141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592535C>T" "" "likely benign" "" "0000615807" "0" "50" "16" "1642571" "1642571" "subst" "2.03222E-5" "01804" "IFT140_000178" "g.1642571A>G" "" "" "" "IFT140(NM_014714.3):c.388T>C (p.(Trp130Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1592570A>G" "" "VUS" "" "0000623383" "0" "50" "16" "1616256" "1616256" "subst" "1.2182E-5" "01943" "IFT140_000172" "g.1616256C>T" "" "" "" "IFT140(NM_014714.3):c.1807G>A (p.D603N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1566255C>T" "" "VUS" "" "0000649232" "1" "30" "16" "1570262" "1570262" "subst" "0.00475092" "03575" "IFT140_000016" "g.1570262A>G" "7/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs79494390}" "Germline" "" "rs79494390" "0" "" "" "g.1520261A>G" "" "likely benign" "" "0000649233" "1" "10" "16" "1573890" "1573890" "subst" "0.0929127" "03575" "IFT140_000024" "g.1573890G>A" "247/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "247 heterozygous; {DB:CLININrs2235638}" "Germline" "" "rs2235638" "0" "" "" "g.1523889G>A" "" "benign" "" "0000649241" "1" "10" "16" "1616201" "1616201" "subst" "0.0871907" "03575" "IFT140_000041" "g.1616201C>T" "186/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "186 heterozygous; {DB:CLININrs11648609}" "Germline" "" "rs11648609" "0" "" "" "g.1566200C>T" "" "benign" "" "0000649252" "1" "30" "16" "1636203" "1636203" "subst" "0.00201927" "03575" "IFT140_000175" "g.1636203G>A" "29/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous, no homozygous; {DB:CLININrs143014223}" "Germline" "" "rs143014223" "0" "" "" "g.1586202G>A" "" "likely benign" "" "0000657739" "0" "50" "16" "1573551" "1573551" "subst" "0" "02327" "IFT140_000179" "g.1573551T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1523550T>C" "" "VUS" "" "0000657740" "0" "50" "16" "1576615" "1576615" "subst" "0" "02327" "IFT140_000180" "g.1576615C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1526614C>T" "" "VUS" "" "0000657751" "0" "50" "16" "1612095" "1612095" "subst" "0" "02327" "IFT140_000142" "g.1612095A>G" "" "" "" "IFT140(NM_014714.4):c.2090T>C (p.F697S, p.(Phe697Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1562094A>G" "" "VUS" "" "0000657757" "0" "30" "16" "1660859" "1660859" "subst" "0" "01804" "CRAMP1L_000002" "g.1660859A>G" "" "" "" "IFT140(NM_014714.3):c.-221-5T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.1610858A>G" "" "likely benign" "" "0000663668" "21" "90" "16" "1561138" "1561138" "subst" "0" "00006" "IFT140_000181" "g.1561138A>G" "" "{PMID:Xu 2015:26216056}" "" "T4196C" "" "Germline" "" "" "0" "" "" "g.1511137A>G" "" "pathogenic (recessive)" "" "0000663669" "21" "90" "16" "1570179" "1570179" "subst" "0" "00006" "IFT140_000182" "g.1570179C>T" "" "{PMID:Xu 2015:26216056}" "" "G3826A" "" "Germline" "" "" "0" "" "" "g.1520178C>T" "" "pathogenic (recessive)" "" "0000663670" "21" "90" "16" "1639767" "1639768" "del" "0" "00006" "IFT140_000193" "g.1639767_1639768del" "" "{PMID:Xu 2015:26216056}" "" "650_651delTG" "" "Germline" "" "" "0" "" "" "g.1589766_1589767del" "" "pathogenic (recessive)" "" "0000663671" "2" "90" "16" "1576045" "1576045" "subst" "0" "00006" "IFT140_000184" "g.1576045G>A" "" "{PMID:Xu 2015:26216056}" "" "C2611T" "" "Germline" "" "" "0" "" "" "g.1526044G>A" "" "pathogenic (recessive)" "" "0000663672" "2" "90" "16" "1634325" "1634325" "subst" "1.22552E-5" "00006" "IFT140_000191" "g.1634325C>G" "" "{PMID:Xu 2015:26216056}" "" "G1252C" "" "Germline" "" "" "0" "" "" "g.1584324C>G" "" "pathogenic (recessive)" "" "0000663673" "21" "90" "16" "1630833" "1630833" "subst" "2.84384E-5" "00006" "IFT140_000189" "g.1630833G>A" "" "{PMID:Xu 2015:26216056}" "" "C1451T" "" "Germline" "" "" "0" "" "" "g.1580832G>A" "" "pathogenic (recessive)" "" "0000663674" "21" "90" "16" "1607967" "1607967" "subst" "2.03031E-5" "00006" "IFT140_000185" "g.1607967C>T" "" "{PMID:Xu 2015:26216056}" "" "G2368A" "" "Germline" "" "" "0" "" "" "g.1557966C>T" "" "pathogenic (recessive)" "" "0000663675" "11" "90" "16" "1616163" "1616166" "del" "0" "00006" "IFT140_000187" "g.1616163_1616166del" "" "{PMID:Xu 2015:26216056}" "" "1898_1901delATAA" "" "Germline" "" "" "0" "" "" "g.1566162_1566165del" "" "pathogenic (recessive)" "" "0000663676" "11" "90" "16" "1614076" "1614076" "subst" "0" "00006" "IFT140_000186" "g.1614076G>C" "" "{PMID:Xu 2015:26216056}" "" "C1989G" "" "Germline" "" "" "0" "" "" "g.1564075G>C" "" "pathogenic (recessive)" "" "0000663677" "11" "90" "16" "1652528" "1652528" "subst" "1.62537E-5" "00006" "IFT140_000068" "g.1652528G>A" "" "{PMID:Xu 2015:26216056}" "" "C212T" "" "Germline" "" "" "0" "" "" "g.1602527G>A" "" "pathogenic (recessive)" "" "0000663678" "1" "90" "16" "1633370" "1633370" "subst" "8.12883E-5" "00006" "IFT140_000190" "g.1633370C>T" "" "{PMID:Xu 2015:26216056}" "" "G1377A" "" "Germline" "" "" "0" "" "" "g.1583369C>T" "" "pathogenic (recessive)" "" "0000663679" "1" "90" "16" "1574861" "1574861" "subst" "8.1592E-6" "00006" "IFT140_000183" "g.1574861G>A" "" "{PMID:Xu 2015:26216056}" "" "C2921T" "" "Germline" "" "" "0" "" "" "g.1524860G>A" "" "pathogenic (recessive)" "" "0000663680" "11" "90" "16" "1637223" "1637223" "subst" "8.12341E-6" "00006" "IFT140_000192" "g.1637223A>G" "" "{PMID:Xu 2015:26216056}" "" "T985C" "" "Germline" "" "" "0" "" "" "g.1587222A>G" "" "pathogenic (recessive)" "" "0000663681" "11" "90" "16" "1618336" "1618337" "del" "0" "00006" "IFT140_000188" "g.1618336_1618337del" "" "{PMID:Xu 2015:26216056}" "" "1655_1656delAG" "" "Germline" "" "" "0" "" "" "g.1568335_1568336del" "" "pathogenic (recessive)" "" "0000663683" "3" "90" "16" "1630833" "1630833" "subst" "2.84384E-5" "00006" "IFT140_000189" "g.1630833G>A" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1580832G>A" "" "pathogenic (recessive)" "" "0000663684" "3" "90" "16" "1630833" "1630833" "subst" "2.84384E-5" "00006" "IFT140_000189" "g.1630833G>A" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1580832G>A" "" "pathogenic (recessive)" "" "0000663685" "3" "90" "16" "1630833" "1630833" "subst" "2.84384E-5" "00006" "IFT140_000189" "g.1630833G>A" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1580832G>A" "" "pathogenic (recessive)" "" "0000663686" "1" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "00006" "IFT140_000006" "g.1607935C>A" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1557934C>A" "" "pathogenic (recessive)" "" "0000663687" "3" "90" "16" "1637210" "1637210" "subst" "2.03148E-5" "00006" "IFT140_000197" "g.1637210C>T" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1587209C>T" "" "pathogenic (recessive)" "" "0000663688" "3" "90" "16" "1637210" "1637210" "subst" "2.03148E-5" "00006" "IFT140_000197" "g.1637210C>T" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1587209C>T" "" "pathogenic (recessive)" "" "0000663689" "3" "90" "16" "1637210" "1637210" "subst" "2.03148E-5" "00006" "IFT140_000197" "g.1637210C>T" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "" "" "0" "" "" "g.1587209C>T" "" "pathogenic (recessive)" "" "0000663690" "21" "90" "16" "1636265" "1636265" "subst" "7.3805E-5" "00006" "IFT140_000196" "g.1636265C>T" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1586264C>T" "" "pathogenic (recessive)" "" "0000663691" "2" "90" "16" "1575281" "1575281" "subst" "0" "00006" "IFT140_000194" "g.1575281A>G" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1525280A>G" "" "pathogenic (recessive)" "" "0000663692" "11" "90" "16" "1633325" "1633326" "ins" "0" "00006" "IFT140_000195" "g.1633325_1633326insTT" "" "{PMID:Hull 2016:26968735}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1583324_1583325insTT" "" "pathogenic (recessive)" "" "0000669312" "3" "10" "16" "1573890" "1573890" "subst" "0.0929127" "03575" "IFT140_000024" "g.1573890G>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 homozygous; {DB:CLININrs2235638}" "Germline" "" "rs2235638" "0" "" "" "g.1523889G>A" "" "benign" "" "0000669315" "3" "10" "16" "1616201" "1616201" "subst" "0.0871907" "03575" "IFT140_000041" "g.1616201C>T" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 homozygous; {DB:CLININrs11648609}" "Germline" "" "rs11648609" "0" "" "" "g.1566200C>T" "" "benign" "" "0000680392" "0" "30" "16" "1561056" "1561056" "subst" "4.2931E-6" "01943" "IFT140_000199" "g.1561056C>T" "" "" "" "IFT140(NM_014714.3):c.4278G>A (p.G1426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680393" "0" "50" "16" "1574590" "1574590" "subst" "7.84877E-5" "02325" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680411" "0" "50" "16" "1607963" "1607963" "subst" "1.62422E-5" "02325" "IFT140_000200" "g.1607963G>C" "" "" "" "IFT140(NM_014714.4):c.2372C>G (p.A791G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680414" "0" "30" "16" "1618306" "1618306" "subst" "0.00626451" "01804" "IFT140_000201" "g.1618306C>T" "" "" "" "IFT140(NM_014714.3):c.1682G>A (p.(Ser561Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680423" "0" "50" "16" "1630775" "1630775" "subst" "6.90406E-5" "01943" "IFT140_000202" "g.1630775T>C" "" "" "" "IFT140(NM_014714.3):c.1509A>G (p.Q503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680424" "0" "50" "16" "1630786" "1630786" "subst" "1.21838E-5" "01943" "IFT140_000203" "g.1630786T>C" "" "" "" "IFT140(NM_014714.3):c.1498A>G (p.N500D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000680428" "0" "30" "16" "1634225" "1634225" "subst" "0.00625292" "01804" "IFT140_000204" "g.1634225G>A" "" "" "" "IFT140(NM_014714.3):c.1352C>T (p.(Ala451Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680429" "0" "30" "16" "1634377" "1634377" "subst" "0.000127919" "01943" "IFT140_000205" "g.1634377G>A" "" "" "" "IFT140(NM_014714.3):c.1200C>T (p.S400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680430" "0" "30" "16" "1637998" "1637998" "subst" "0.0046429" "01804" "IFT140_000206" "g.1637998G>A" "" "" "" "IFT140(NM_014714.3):c.838C>T (p.(Arg280Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680431" "0" "50" "16" "1639733" "1639733" "subst" "6.09142E-5" "01943" "IFT140_000207" "g.1639733G>C" "" "" "" "IFT140(NM_014714.3):c.683C>G (p.S228C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683407" "3" "50" "16" "1569962" "1569967" "del" "0.00108977" "00006" "IFT140_000013" "g.1569962_1569967del" "" "{PMID:Al-Bdour 2020:32587456}" "" "c.3955_3960delGCCAAG" "" "Germline" "" "rs746697405" "0" "" "" "" "" "VUS" "ACMG" "0000685250" "0" "90" "16" "1630839" "1630839" "subst" "0" "00004" "IFT140_000105" "g.1630839C>T" "2/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000691940" "0" "50" "16" "1570725" "1570725" "subst" "0" "01943" "IFT140_000208" "g.1570725A>G" "" "" "" "IFT140(NM_014714.3):c.3538T>C (p.S1180P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691941" "0" "30" "16" "1574777" "1574777" "subst" "0.000110498" "01804" "IFT140_000209" "g.1574777G>C" "" "" "" "IFT140(NM_014714.3):c.2997+8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691953" "0" "30" "16" "1621443" "1621443" "subst" "0" "01943" "IFT140_000210" "g.1621443G>A" "" "" "" "IFT140(NM_014714.3):c.1617C>T (p.D539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691955" "0" "30" "16" "1639658" "1639658" "subst" "0.000893416" "02330" "IFT140_000211" "g.1639658C>T" "" "" "" "IFT140(NM_014714.3):c.758G>A (p.R253Q, p.(Arg253Gln)), IFT140(NM_014714.4):c.758G>A (p.R253Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000710230" "1" "90" "16" "1630833" "1630833" "subst" "2.84384E-5" "00006" "IFT140_000189" "g.1630833G>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.1580832G>A" "" "pathogenic" "" "0000710254" "3" "90" "16" "1561082" "1561082" "subst" "0" "00006" "IFT140_000118" "g.1561082G>A" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PVS1, PM2, PP1, PP4" "Germline" "" "" "0" "" "" "g.1511081G>A" "" "pathogenic" "ACMG" "0000710285" "1" "50" "16" "1573906" "1573906" "subst" "3.26464E-5" "00006" "IFT140_000213" "g.1573906C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM2, PP4, BP4" "Germline" "" "" "0" "" "" "g.1523905C>T" "" "VUS" "ACMG" "0000710319" "1" "90" "16" "1642573" "1642573" "subst" "8.12988E-5" "00006" "IFT140_000215" "g.1642573A>C" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.1592572A>C" "" "pathogenic" "" "0000710337" "2" "90" "16" "1575310" "1575310" "del" "4.08327E-6" "00006" "IFT140_000119" "g.1575310del" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "2786delC" "ACMG PVS1, PM2, PM3, PP4" "Germline" "" "" "0" "" "" "g.1525309del" "" "pathogenic" "ACMG" "0000710340" "1" "50" "16" "1570761" "1570761" "subst" "1.64891E-5" "00006" "IFT140_000212" "g.1570761C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.1520760C>T" "" "VUS" "" "0000710354" "2" "50" "16" "1613993" "1613993" "subst" "6.97393E-5" "00006" "IFT140_000214" "g.1613993C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "ACMG PM2, PP4, BP4" "Germline" "" "" "0" "" "" "g.1563992C>T" "" "VUS" "ACMG" "0000710363" "2" "90" "16" "1633370" "1633370" "subst" "8.12883E-5" "00006" "IFT140_000190" "g.1633370C>T" "1/143 cases" "{PMID:Zenteno 2020:31736247}" "" "" "" "Germline" "" "" "0" "" "" "g.1583369C>T" "" "pathogenic" "" "0000713636" "3" "90" "16" "1637210" "1637210" "subst" "2.03148E-5" "00000" "IFT140_000197" "g.1637210C>T" "" "{PMID:Carss 2017:28041643}" "" "16:1637210C>T ENST00000426508.2:c.998G>A (Cys333Tyr)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000725452" "0" "30" "16" "1545347" "1545347" "subst" "0.000102939" "01943" "IFT140_000216" "g.1545347C>A" "" "" "" "TELO2(NM_016111.3):c.336C>A (p.G112=), TELO2(NM_016111.4):c.336C>A (p.G112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725453" "0" "30" "16" "1545347" "1545347" "subst" "0.000102939" "02325" "IFT140_000216" "g.1545347C>A" "" "" "" "TELO2(NM_016111.3):c.336C>A (p.G112=), TELO2(NM_016111.4):c.336C>A (p.G112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725454" "0" "50" "16" "1545526" "1545526" "subst" "1.64406E-5" "02325" "IFT140_000217" "g.1545526A>T" "" "" "" "TELO2(NM_016111.4):c.515A>T (p.Q172L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725455" "0" "30" "16" "1555515" "1555515" "subst" "0.000159145" "01943" "IFT140_000218" "g.1555515C>T" "" "" "" "TELO2(NM_016111.3):c.1947C>T (p.A649=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725456" "0" "30" "16" "1573546" "1573546" "subst" "0.000200008" "01943" "IFT140_000022" "g.1573546C>T" "" "" "" "IFT140(NM_014714.3):c.3426G>A (p.A1142=), IFT140(NM_014714.4):c.3426G>A (p.A1142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725457" "0" "50" "16" "1573583" "1573583" "subst" "4.06712E-6" "01943" "IFT140_000219" "g.1573583G>C" "" "" "" "IFT140(NM_014714.3):c.3389C>G (p.S1130C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725458" "0" "50" "16" "1573613" "1573613" "subst" "1.21953E-5" "02325" "IFT140_000220" "g.1573613G>A" "" "" "" "IFT140(NM_014714.3):c.3359C>T (p.(Thr1120Met)), IFT140(NM_014714.4):c.3359C>T (p.T1120M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725459" "0" "70" "16" "1573885" "1573885" "subst" "0" "01804" "IFT140_000081" "g.1573885G>A" "" "" "" "IFT140(NM_014714.3):c.3214C>T (p.R1072*, p.(Arg1072Ter)), IFT140(NM_014714.4):c.3214C>T (p.R1072*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725460" "0" "30" "16" "1576073" "1576073" "subst" "7.27931E-5" "01943" "IFT140_000140" "g.1576073G>A" "" "" "" "IFT140(NM_014714.3):c.2583C>T (p.D861=), IFT140(NM_014714.4):c.2583C>T (p.D861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725476" "0" "30" "16" "1616232" "1616232" "subst" "0.00079184" "01804" "IFT140_000042" "g.1616232C>T" "" "" "" "IFT140(NM_014714.3):c.1831G>A (p.V611I, p.(Val611Ile)), IFT140(NM_014714.4):c.1831G>A (p.V611I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725479" "0" "30" "16" "1621518" "1621518" "subst" "0.00419494" "02326" "IFT140_000044" "g.1621518G>T" "" "" "" "IFT140(NM_014714.3):c.1542C>A (p.L514=, p.(Leu514=)), IFT140(NM_014714.4):c.1542C>A (p.L514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725480" "0" "30" "16" "1621519" "1621519" "subst" "0.00419191" "02326" "IFT140_000046" "g.1621519A>T" "" "" "" "IFT140(NM_014714.3):c.1541T>A (p.L514H, p.(Leu514His)), IFT140(NM_014714.4):c.1541T>A (p.L514H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725488" "0" "70" "16" "1636231" "1636231" "del" "0" "01943" "IFT140_000223" "g.1636231del" "" "" "" "IFT140(NM_014714.3):c.1056delG (p.V354Yfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000725489" "0" "90" "16" "1636247" "1636247" "subst" "4.07345E-6" "01943" "IFT140_000224" "g.1636247G>A" "" "" "" "IFT140(NM_014714.3):c.1039C>T (p.R347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725490" "0" "50" "16" "1636265" "1636265" "subst" "7.3805E-5" "01943" "IFT140_000196" "g.1636265C>T" "" "" "" "IFT140(NM_014714.3):c.1021G>A (p.A341T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725491" "0" "30" "16" "1642572" "1642572" "subst" "0" "01943" "IFT140_000225" "g.1642572C>T" "" "" "" "IFT140(NM_014714.3):c.387G>A (p.L129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729991" "1" "90" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_014714.3:c.1990G>A:(p.Glu664Lys)" "" "Germline" "" "" "0" "" "" "g.1564074C>T" "" "likely pathogenic (recessive)" "" "0000729992" "3" "90" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_014714.3:c.1990G>A:P.(Glu664Lys)" "" "Germline" "" "" "0" "" "" "g.1564074C>T" "" "pathogenic (recessive)" "" "0000730104" "2" "90" "16" "1621536" "1621536" "subst" "0" "00000" "IFT140_000222" "g.1621536C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_014714.3:c.1525-1G>A" "" "Germline" "" "" "0" "" "" "g.1571535C>T" "" "likely pathogenic (recessive)" "" "0000733071" "1" "70" "16" "1576765" "1576765" "subst" "0" "00000" "IFT140_000229" "g.1576765C>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.1526764C>A" "" "likely pathogenic" "" "0000733140" "1" "70" "16" "1576045" "1576045" "subst" "0" "00000" "IFT140_000184" "g.1576045G>A" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.1526044G>A" "" "likely pathogenic" "" "0000733332" "1" "70" "16" "1568360" "1568360" "subst" "0" "00000" "IFT140_000226" "g.1568360T>C" "" "{PMID:Stone 2017:28559085}" "" "IVS29-2A>G" "" "Germline" "" "" "0" "" "" "g.1518359T>C" "" "likely pathogenic" "" "0000733535" "2" "70" "16" "1576716" "1576716" "del" "0" "00000" "IFT140_000228" "g.1576716del" "" "{PMID:Stone 2017:28559085}" "" "2481delG" "" "Germline" "" "" "0" "" "" "g.1526715del" "" "likely pathogenic" "" "0000733588" "2" "70" "16" "1574634" "1574634" "subst" "4.24268E-6" "00000" "IFT140_000227" "g.1574634G>C" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.1524633G>C" "" "likely pathogenic" "" "0000733714" "2" "70" "16" "1642177" "1642177" "subst" "5.28069E-5" "00000" "IFT140_000231" "g.1642177C>T" "" "{PMID:Stone 2017:28559085}" "" "" "" "Germline" "" "" "0" "" "" "g.1592176C>T" "" "likely pathogenic" "" "0000734381" "1" "50" "16" "1570217" "1570217" "subst" "8.12117E-6" "00000" "IFT140_000063" "g.1570217G>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.1520216G>A" "" "VUS" "" "0000734404" "2" "50" "16" "1618261" "1618261" "subst" "0" "00000" "IFT140_000230" "g.1618261C>A" "" "{PMID:Huang 2017:28512305}" "" "" "" "Unknown" "" "" "0" "" "" "g.1568260C>A" "" "VUS" "" "0000736838" "0" "50" "16" "1569975" "1569980" "del" "0" "00000" "IFT140_000013" "g.1569975_1569980del" "1/486 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs746697405" "0" "" "" "g.1519974_1519979del" "" "VUS" "" "0000759855" "1" "70" "16" "1614123" "1614123" "subst" "0" "00000" "IFT140_000233" "g.1614123G>A" "" "{PMID:Wang 2016:27422788}" "" "c.C1942T p.P648S" "" "Germline" "" "" "0" "" "" "g.1564122G>A" "" "likely pathogenic" "" "0000759883" "2" "70" "16" "1642276" "1642276" "subst" "0" "00000" "IFT140_000234" "g.1642276T>A" "" "{PMID:Wang 2016:27422788}" "" "c.A535T p.K179X" "" "Germline" "" "" "0" "" "" "g.1592275T>A" "" "likely pathogenic" "" "0000760715" "11" "70" "16" "1576791" "1576798" "del" "0" "03149" "IFT140_000232" "g.1576791_1576798del" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "" "Germline" "" "" "0" "" "" "g.1526790_1526797del" "" "pathogenic (recessive)" "" "0000764906" "1" "70" "16" "1642487" "1642487" "subst" "1.62516E-5" "00000" "IFT140_000235" "g.1642487G>A" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.1592486G>A" "" "likely pathogenic (recessive)" "" "0000764933" "2" "70" "16" "1621495" "1621495" "subst" "0.000129975" "00000" "IFT140_000003" "g.1621495C>T" "" "{PMID:Weisschuh 2016:26766544}" "" "" "" "Germline" "" "" "0" "" "" "g.1571494C>T" "" "likely pathogenic (recessive)" "" "0000765657" "3" "90" "16" "1570178" "1570178" "subst" "4.06085E-6" "00000" "IFT140_000236" "g.1570178C>T" "" "{PMID:Beheshtian 2015:26497376}" "" "" "" "Germline" "yes" "" "0" "" "" "g.1520177C>T" "" "pathogenic (recessive)" "" "0000788429" "0" "50" "16" "1575310" "1575310" "subst" "4.0835E-5" "00000" "IFT140_000086" "g.1575310G>A" "" "{PMID:Katagiri 2014:25268133}" "" "C2786T" "" "Germline" "" "" "0" "" "" "g.1525309G>A" "" "VUS" "" "0000793905" "0" "90" "16" "1642177" "1642177" "subst" "5.28069E-5" "00000" "IFT140_000231" "g.1642177C>T" "" "{PMID:Foote-2019:10480356}" "" "c.634G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000793906" "0" "70" "16" "1633357" "1633357" "subst" "0" "00000" "IFT140_000237" "g.1633357C>A" "" "{PMID:Foote-2019:10480356}" "" "c.1390G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794739" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_014714.3:c.1990G>A;p.(Glu664Lys)" "" "Germline" "yes" "rs387907192" "0" "" "" "g.1564074C>T" "" "likely pathogenic (recessive)" "ACMG" "0000794750" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Patel 2018:30054919}" "" "NM_014714.3:c.1990G>A;p.(Glu664Lys)" "" "Germline" "yes" "rs387907192" "0" "" "" "g.1564074C>T" "" "likely pathogenic (recessive)" "ACMG" "0000807074" "0" "30" "16" "1561125" "1561125" "subst" "0" "01943" "IFT140_000239" "g.1561125C>A" "" "" "" "IFT140(NM_014714.3):c.4209G>T (p.R1403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807075" "0" "30" "16" "1568274" "1568274" "subst" "3.65756E-5" "01943" "IFT140_000240" "g.1568274G>A" "" "" "" "IFT140(NM_014714.3):c.4125C>T (p.I1375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807076" "0" "30" "16" "1569929" "1569929" "subst" "0.00216072" "01943" "IFT140_000126" "g.1569929C>G" "" "" "" "IFT140(NM_014714.3):c.3993G>C (p.Q1331H, p.(Gln1331His)), IFT140(NM_014714.4):c.3993G>C (p.Q1331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807077" "0" "10" "16" "1569934" "1569934" "subst" "0.00134738" "02326" "IFT140_000012" "g.1569934C>T" "" "" "" "IFT140(NM_014714.3):c.3988G>A (p.(Ala1330Thr)), IFT140(NM_014714.4):c.3988G>A (p.A1330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000807078" "0" "50" "16" "1569975" "1569980" "del" "0" "01804" "IFT140_000013" "g.1569975_1569980del" "" "" "" "IFT140(NM_014714.3):c.3955_3960del (p.(Ala1319_Lys1320del)), IFT140(NM_014714.3):c.3955_3960delGCCAAG (p.A1319_K1320del), IFT140(NM_014714.4):c.395..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807079" "0" "30" "16" "1574794" "1574794" "subst" "0.000636345" "01943" "IFT140_000135" "g.1574794A>G" "" "" "" "IFT140(NM_014714.3):c.2988T>C (p.N996=), IFT140(NM_014714.4):c.2988T>C (p.N996=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807080" "0" "30" "16" "1575932" "1575932" "subst" "9.50666E-5" "02326" "IFT140_000241" "g.1575932G>A" "" "" "" "IFT140(NM_014714.4):c.2724C>T (p.A908=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807116" "0" "30" "16" "1636152" "1636152" "subst" "4.06858E-6" "01943" "IFT140_000242" "g.1636152T>C" "" "" "" "IFT140(NM_014714.3):c.1134A>G (p.Q378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807117" "0" "90" "16" "1637198" "1637198" "subst" "0" "01943" "IFT140_000243" "g.1637198C>G" "" "" "" "IFT140(NM_014714.3):c.1009+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807118" "0" "50" "16" "1657140" "1657140" "subst" "6.9049E-5" "01943" "IFT140_000244" "g.1657140A>G" "" "" "" "IFT140(NM_014714.3):c.128T>C (p.V43A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811931" "0" "70" "16" "1575944" "1575944" "subst" "0" "00000" "IFT140_000246" "g.1575944G>C" "" "{PMID:Hariri 2018:31047384}" "" "p.Tyr904Ter:c.2712C/G,p.Leu129Trp:c.386T/G (alleles in trans)" "" "Germline" "?" "" "0" "" "" "g.1525943G>C" "" "likely pathogenic" "" "0000811932" "0" "70" "16" "1642573" "1642573" "subst" "8.12988E-5" "00000" "IFT140_000215" "g.1642573A>C" "" "{PMID:Hariri 2018:31047384}" "" "p.Tyr904Ter:c.2712C/G,p.Leu129Trp:c.386T/G (alleles in trans)" "" "Germline" "?" "" "0" "" "" "g.1592572A>C" "" "likely pathogenic" "" "0000812282" "0" "70" "16" "1614092" "1614092" "subst" "0" "00000" "IFT140_000101" "g.1614092G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "IFT140 Ex.17 c.1973C>T p.(Pro658Leu), Ex.23 c.2948del p.(Asp983Alafs*21)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1564091G>A" "" "likely pathogenic" "" "0000812283" "0" "70" "16" "1574834" "1574834" "del" "0" "00000" "IFT140_000245" "g.1574834del" "" "{PMID:Martin Merida 2019:30902645}" "" "IFT140 Ex.17 c.1973C>T p.(Pro658Leu), Ex.23 c.2948del p.(Asp983Alafs*21)" "compound heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1524833del" "" "likely pathogenic" "" "0000813725" "1" "70" "16" "1576045" "1576045" "subst" "0" "00000" "IFT140_000184" "g.1576045G>A" "" "{PMID:Xu 2020:31630094}" "" "IFT140 NM_014714: g.86067C>T, c.2611C>T, p.R871C" "" "Germline" "yes" "" "0" "" "" "g.1526044G>A" "" "likely pathogenic" "ACMG" "0000813786" "2" "90" "16" "1636247" "1636247" "subst" "4.07345E-6" "00000" "IFT140_000224" "g.1636247G>A" "" "{PMID:Xu 2020:31630094}" "" "IFT140 NM_014714: g.25865C>T, c.1039C>T, p.R347X" "" "Germline" "yes" "" "0" "" "" "g.1586246G>A" "" "pathogenic" "ACMG" "0000813892" "3" "70" "16" "1637210" "1637210" "subst" "2.03148E-5" "00000" "IFT140_000197" "g.1637210C>T" "" "{PMID:Jiman 2020:31836858}" "" "IFT140;NM_014714.3;c.[998G>A];[998G>A];p.[(Cys333Tyr)];[(Cys333Tyr)]" "homozygous" "Unknown" "?" "" "0" "" "" "g.1587209C>T" "" "likely pathogenic" "" "0000814267" "1" "70" "16" "1576655" "1576655" "subst" "0.000272387" "00000" "IFT140_000094" "g.1576655G>A" "" "{PMID:Chen 2020:31872526}" "" "IFT140:NM_014714:exon20:c.2542C>T:p.R848C" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.1526654G>A" "" "likely pathogenic" "" "0000814295" "2" "70" "16" "1569934" "1569934" "subst" "0.00134738" "00000" "IFT140_000012" "g.1569934C>T" "" "{PMID:Chen 2020:31872526}" "" "IFT140:NM_014714:exon29:c.3988G>A:p.A1330T" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.1519933C>T" "" "likely pathogenic" "" "0000816015" "0" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "00000" "IFT140_000006" "g.1607935C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "IFT140 c.2399+1G>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1557934C>A" "" "pathogenic" "" "0000816130" "0" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "00000" "IFT140_000006" "g.1607935C>A" "" "{PMID:Zampaglione 2020:32037395}" "" "IFT140 c.2399+1G>T" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1557934C>A" "" "pathogenic" "" "0000816187" "0" "50" "16" "1636153" "1636153" "subst" "4.06808E-6" "00000" "IFT140_000253" "g.1636153T>C" "" "{PMID:Zampaglione 2020:32037395}" "" "IFT140 c.1133A>G, p.Gln378Arg" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1586152T>C" "" "VUS" "" "0000816201" "0" "90" "16" "1576618" "1576618" "subst" "0" "00000" "IFT140_000250" "g.1576618A>C" "" "{PMID:Zampaglione 2020:32037395}" "" "IFT140 c.2577+2T>G" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1526617A>C" "" "pathogenic" "" "0000816251" "0" "50" "16" "1576618" "1576618" "subst" "0" "00000" "IFT140_000250" "g.1576618A>C" "" "{PMID:Zampaglione 2020:32037395}" "" "IFT140 c.2577+2T>G" "unsolved" "Unknown" "?" "" "0" "" "" "g.1526617A>C" "" "VUS" "" "0000816268" "0" "50" "16" "1576618" "1576618" "subst" "0" "00000" "IFT140_000250" "g.1576618A>C" "" "{PMID:Zampaglione 2020:32037395}" "" "IFT140 c.2577+2T>G" "unsolved" "Unknown" "?" "" "0" "" "" "g.1526617A>C" "" "VUS" "" "0000816288" "0" "50" "16" "1576618" "1576618" "subst" "0" "00000" "IFT140_000250" "g.1576618A>C" "" "{PMID:Zampaglione 2020:32037395}" "" "IFT140 c.2577+2T>G" "unsolved" "Unknown" "?" "" "0" "" "" "g.1526617A>C" "" "VUS" "" "0000816356" "0" "50" "16" "1570738" "1570738" "subst" "2.04879E-5" "00000" "IFT140_000131" "g.1570738G>C" "" "{PMID:Zampaglione 2020:32037395}" "" "c.3525C>G, p.Thr1175=" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1520737G>C" "" "VUS" "" "0000816357" "0" "70" "16" "1642172" "1642172" "subst" "8.12618E-6" "00000" "IFT140_000255" "g.1642172C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.634+5G>A" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1592171C>T" "" "likely pathogenic" "" "0000816358" "0" "70" "16" "1637847" "1637847" "subst" "0" "00000" "IFT140_000254" "g.1637847A>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.902+87T>C" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1587846A>G" "" "likely pathogenic" "" "0000816379" "0" "50" "16" "1634276" "1634276" "subst" "0" "00000" "IFT140_000252" "g.1634276G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.1301C>T, p.Thr434Met" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1584275G>A" "" "VUS" "" "0000816380" "0" "50" "16" "1574564" "1574564" "subst" "4.12821E-6" "00000" "IFT140_000247" "g.1574564G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "c.3130C>T, p.Arg1044Cys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1524563G>A" "" "VUS" "" "0000816445" "0" "50" "16" "1574886" "1574886" "subst" "0" "00000" "IFT140_000249" "g.1574886C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.2896G>A, p.Glu966Lys" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1524885C>T" "" "VUS" "" "0000816491" "0" "50" "16" "1574668" "1574668" "subst" "0" "00000" "IFT140_000248" "g.1574668T>G" "" "{PMID:Zampaglione 2020:32037395}" "" "c.3026A>C, p.Asn1009Thr" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1524667T>G" "" "VUS" "" "0000816501" "0" "50" "16" "1612047" "1612047" "subst" "6.56028E-5" "00000" "IFT140_000099" "g.1612047C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.2138G>A, p.Arg713Gln" "heterozygous" "Unknown" "?" "" "0" "" "" "g.1562046C>T" "" "VUS" "" "0000816539" "0" "50" "16" "1621102" "1621841" "del" "0" "00000" "IFT140_000251" "g.1621102_1621841del" "" "{PMID:Zampaglione 2020:32037395}" "" "IFT140 chr16:1621102_1621841del" "out of frame exon 5, unsolved" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000817470" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817471" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817472" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817473" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817474" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817475" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817476" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817477" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817478" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817479" "3" "70" "16" "1621518" "1621519" "delins" "0" "00000" "IFT140_000045" "g.1621518_1621519delinsTT" "" "{PMID:Bifari 2015:26359340}" "" "c.1541_1542delinsAA" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817482" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000817483" "3" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Bifari 2015:26359340}" "" "c.1990G>A; p.Glu664Lys" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000818811" "0" "90" "16" "1636277" "1636277" "subst" "3.70782E-5" "00000" "IFT140_000256" "g.1636277C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_014714.3:c.1010-1G>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818812" "0" "90" "16" "1642177" "1642177" "subst" "5.28069E-5" "00000" "IFT140_000231" "g.1642177C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_014714.3:c.634G>A" "Variant published before in Perrault 2012 with c.2399+1G>T or p.Glu664Lys" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818813" "0" "90" "16" "1570006" "1570006" "dup" "0" "00000" "IFT140_000166" "g.1570006dup" "" "{PMID:Zhang-2019:29068549}" "" "NM_014714.3:c.3916dup" "variant 2nd chromosome not mentioned; Variant published before in Perrault 2012 as Het" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818814" "0" "90" "16" "1657198" "1657198" "subst" "4.06065E-6" "00000" "IFT140_000257" "g.1657198G>A" "" "{PMID:Zhang-2019:29068549}" "" "NM_014714.3:c.70C>T" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000818815" "0" "90" "16" "1637962" "1637962" "subst" "4.09326E-6" "00000" "IFT140_000002" "g.1637962C>T" "" "{PMID:Zhang-2019:29068549}" "" "NM_014714.3:c.874G>A" "Variant published before in Schmidts 2013; Perrault 2012 with c.1380delG or p.G522E or" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000819046" "3" "90" "16" "1637962" "1637962" "subst" "4.09326E-6" "00000" "IFT140_000002" "g.1637962C>T" "" "{PMID:Dineiro 2020:32483926}" "" "IFT140 c.874G>A, p.(Val292Met)" "homozygous" "Germline" "?" "" "0" "" "" "g.1587961C>T" "" "pathogenic" "ACMG" "0000819049" "3" "90" "16" "1637962" "1637962" "subst" "4.09326E-6" "00000" "IFT140_000002" "g.1637962C>T" "" "{PMID:Dineiro 2020:32483926}" "" "IFT140 c.874G>A, p.(Val292Met)" "homozygous" "Germline" "?" "" "0" "" "" "g.1587961C>T" "" "pathogenic" "ACMG" "0000819885" "1" "70" "16" "1642487" "1642487" "subst" "1.62516E-5" "00000" "IFT140_000235" "g.1642487G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IFT140, variant 1: c.472C>T/p.R158W, variant 2: c.1565G>A/p.G522E" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.1592486G>A" "" "likely pathogenic" "" "0000819886" "1" "70" "16" "1642487" "1642487" "subst" "1.62516E-5" "00000" "IFT140_000235" "g.1642487G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IFT140, variant 1: c.472C>T/p.R158W, variant 2: c.1565G>A/p.G522E" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.1592486G>A" "" "likely pathogenic" "" "0000820534" "1" "70" "16" "1642487" "1642487" "subst" "1.62516E-5" "00000" "IFT140_000235" "g.1642487G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "IFT140, variant 1: c.472C>T/p.R158W, variant 2 :Duplication exon 25-28" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.1592486G>A" "" "likely pathogenic" "" "0000820748" "1" "70" "16" "1621495" "1621495" "subst" "0.000129975" "00000" "IFT140_000003" "g.1621495C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "IFT140, variant 1: c.472C>T/p.R158W, variant 2: c.1565G>A/p.G522E" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.1571494C>T" "" "likely pathogenic" "" "0000820749" "1" "70" "16" "1621495" "1621495" "subst" "0.000129975" "00000" "IFT140_000003" "g.1621495C>T" "" "{PMID:Weisschuh 2020:32531858}" "" "IFT140, variant 1: c.472C>T/p.R158W, variant 2: c.1565G>A/p.G522E" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.1571494C>T" "" "likely pathogenic" "" "0000820960" "1" "70" "16" "0" "0" "" "0" "00000" "CRYM_000000" "g.?" "" "{PMID:Weisschuh 2020:32531858}" "" "IFT140, variant 1: c.472C>T/p.R158W, variant 2 :Duplication exon 25-28" "possibly solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000821273" "3" "70" "16" "1637210" "1637210" "subst" "2.03148E-5" "00000" "IFT140_000197" "g.1637210C>T" "" "{PMID:Turro 2020:32581362}" "" "IFT140 c.998G>A, p.Cys333Tyr" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1587209C>T" "" "likely pathogenic" "" "0000827283" "3" "50" "16" "1657126" "1657126" "subst" "0" "00000" "IFT140_000258" "g.1657126C>T" "" "{PMID:Colombo-2020:33576794}" "" "c.142G>A" "" "Germline" "" "rs984306756" "0" "" "" "" "" "VUS" "" "0000828486" "0" "70" "16" "1569975" "1569980" "del" "0" "00000" "IFT140_000013" "g.1569975_1569980del" "" "{PMID:Perea-Romero 2021:34448047}" "" "IFT140, c.3955_3960delGCCAAG, p.Ala1319_Lys1320del, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.1519974_1519979del" "" "likely pathogenic" "ACMG" "0000828508" "0" "50" "16" "1570319" "1570319" "subst" "0" "00000" "IFT140_000259" "g.1570319C>A" "" "{PMID:Perea-Romero 2021:34448047}" "" "IFT140, c.3686G>T, p.Gly1229Val, compound heterozygous" "" "Unknown" "?" "" "0" "" "" "g.1520318C>A" "" "VUS" "ACMG" "0000828509" "0" "50" "16" "1570353" "1570353" "subst" "0" "00000" "IFT140_000260" "g.1570353A>C" "" "{PMID:Perea-Romero 2021:34448047}" "" "IFT140, c.3661-9T>G, p.?, compound heterozygous" "" "Unknown" "?" "" "0" "" "" "g.1520352A>C" "" "VUS" "ACMG" "0000828758" "0" "50" "16" "1633372" "1633372" "subst" "0" "00000" "IFT140_000261" "g.1633372A>C" "" "{PMID:Chen 2021:43360855}" "" "IFT140 c.1375T>G(;)1990G>A, V1: c.1375T>G, (p.Trp459Gly)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.1583371A>C" "" "VUS" "ACMG" "0000828963" "0" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "" "{PMID:Chen 2021:43360855}" "" "IFT140 c.1375T>G(;)1990G>A, V2: c.1990G>A, (p.Glu664Lys)" "alleles in cis or trans; heterozygous" "Unknown" "?" "" "0" "" "" "g.1564074C>T" "" "likely pathogenic" "ACMG" "0000829960" "0" "50" "16" "1576655" "1576655" "subst" "0.000272387" "00000" "IFT140_000094" "g.1576655G>A" "" "{PMID:Numa-2020:33247286}" "" "c.2542C>T:p.R848C" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000829961" "0" "50" "16" "1574675" "1574676" "del" "0" "00000" "IFT140_000262" "g.1574675_1574676del" "" "{PMID:Numa-2020:33247286}" "" "c.3018_3019del:p.1006_1007del" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000830152" "0" "70" "16" "1616163" "1616163" "del" "0" "04116" "IFT140_000263" "g.1616163del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.1566162del" "" "VUS" "" "0000834084" "11" "70" "16" "1642177" "1642177" "subst" "5.28069E-5" "00006" "IFT140_000231" "g.1642177C>T" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.634(exon6)G>A" "" "Germline" "" "rs201188361" "0" "" "" "g.1592176C>T" "" "likely pathogenic" "ACMG" "0000834144" "21" "50" "16" "1652384" "1652384" "subst" "0" "00006" "IFT140_000264" "g.1652384A>G" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.356(exon4)T>C" "" "Germline" "" "" "0" "" "" "g.1602383A>G" "" "VUS" "ACMG" "0000845390" "3" "90" "16" "1642177" "1642177" "subst" "5.28069E-5" "00000" "IFT140_000231" "g.1642177C>T" "" "{PMID:Helm 2017:28724397}" "" "c.634G>A (p.Gly212Arg)" "" "Uniparental disomy, maternal allele" "" "" "0" "" "" "" "" "pathogenic" "" "0000845391" "21" "90" "16" "1637215" "1637216" "dup" "0" "00000" "IFT140_000067" "g.1637215_1637216dup" "" "{PMID:Oud 2018:30479745}" "" "c.992_993dup" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000845392" "11" "90" "16" "1575889" "1575889" "subst" "0" "00000" "IFT140_000064" "g.1575889A>C" "" "{PMID:Oud 2018:30479745}" "" "c.2767T > G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000854283" "0" "50" "16" "1561126" "1561128" "dup" "0" "01943" "IFT140_000071" "g.1561126_1561128dup" "" "" "" "IFT140(NM_014714.3):c.4214_4216dupGGC (p.R1405dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854284" "0" "50" "16" "1570721" "1570721" "subst" "0.000356944" "01943" "IFT140_000021" "g.1570721G>A" "" "" "" "IFT140(NM_014714.3):c.3542C>T (p.S1181L), IFT140(NM_014714.4):c.3542C>T (p.S1181L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854285" "0" "50" "16" "1575940" "1575940" "subst" "2.72373E-5" "01943" "IFT140_000267" "g.1575940G>A" "" "" "" "IFT140(NM_014714.3):c.2716C>T (p.R906C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854297" "0" "30" "16" "1618339" "1618339" "subst" "6.93493E-5" "01943" "IFT140_000269" "g.1618339C>T" "" "" "" "IFT140(NM_014714.3):c.1653-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854303" "0" "90" "16" "1630771" "1630771" "subst" "2.03077E-5" "01943" "IFT140_000270" "g.1630771G>A" "" "" "" "IFT140(NM_014714.3):c.1513C>T (p.R505*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854304" "0" "30" "16" "1634386" "1634386" "subst" "0" "01943" "IFT140_000272" "g.1634386G>T" "" "" "" "IFT140(NM_014714.3):c.1191C>A (p.S397R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854305" "0" "50" "16" "1634417" "1634417" "subst" "2.21903E-5" "01943" "IFT140_000273" "g.1634417C>T" "" "" "" "IFT140(NM_014714.3):c.1160G>A (p.G387D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854306" "0" "50" "16" "1639688" "1639688" "subst" "0.000125888" "01943" "IFT140_000274" "g.1639688T>C" "" "" "" "IFT140(NM_014714.3):c.728A>G (p.E243G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864308" "0" "30" "16" "1568240" "1568240" "subst" "5.29113E-5" "01943" "IFT140_000265" "g.1568240C>T" "" "" "" "IFT140(NM_014714.3):c.4159G>A (p.V1387M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864309" "0" "30" "16" "1569929" "1569929" "subst" "0.00216072" "01804" "IFT140_000126" "g.1569929C>G" "" "" "" "IFT140(NM_014714.3):c.3993G>C (p.Q1331H, p.(Gln1331His)), IFT140(NM_014714.4):c.3993G>C (p.Q1331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864310" "0" "30" "16" "1570262" "1570262" "subst" "0.00475092" "01804" "IFT140_000016" "g.1570262A>G" "" "" "" "IFT140(NM_014714.3):c.3743T>C (p.I1248T, p.(Ile1248Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864311" "0" "50" "16" "1573634" "1573634" "subst" "0" "01804" "IFT140_000077" "g.1573634A>G" "" "" "" "IFT140(NM_014714.3):c.3338T>C (p.(Ile1113Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864312" "0" "90" "16" "1573885" "1573885" "subst" "0" "01943" "IFT140_000081" "g.1573885G>A" "" "" "" "IFT140(NM_014714.3):c.3214C>T (p.R1072*, p.(Arg1072Ter)), IFT140(NM_014714.4):c.3214C>T (p.R1072*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864313" "0" "50" "16" "1574783" "1574783" "subst" "0" "01804" "IFT140_000266" "g.1574783A>G" "" "" "" "IFT140(NM_014714.3):c.2997+2T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000864314" "0" "30" "16" "1576636" "1576636" "subst" "0.000793394" "02330" "IFT140_000268" "g.1576636G>A" "" "" "" "IFT140(NM_014714.4):c.2561C>T (p.T854M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864329" "0" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "01804" "IFT140_000006" "g.1607935C>A" "" "" "" "IFT140(NM_014714.3):c.2399+1G>T (p.?), IFT140(NM_014714.4):c.2399+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864337" "0" "90" "16" "1630833" "1630833" "subst" "2.84384E-5" "02330" "IFT140_000189" "g.1630833G>A" "" "" "" "IFT140(NM_014714.4):c.1451C>T (p.T484M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000864339" "0" "30" "16" "1634198" "1634198" "subst" "8.02148E-5" "02330" "IFT140_000271" "g.1634198C>T" "" "" "" "IFT140(NM_014714.4):c.1359+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864341" "0" "30" "16" "1639658" "1639658" "subst" "0.000893416" "01943" "IFT140_000211" "g.1639658C>T" "" "" "" "IFT140(NM_014714.3):c.758G>A (p.R253Q, p.(Arg253Gln)), IFT140(NM_014714.4):c.758G>A (p.R253Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864342" "0" "30" "16" "1642469" "1642469" "subst" "4.06722E-6" "01804" "IFT140_000275" "g.1642469C>T" "" "" "" "IFT140(NM_014714.3):c.490G>A (p.(Glu164Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000864343" "0" "30" "16" "1652546" "1652546" "subst" "8.1279E-5" "01943" "IFT140_000276" "g.1652546G>A" "" "" "" "IFT140(NM_014714.3):c.194C>T (p.A65V), IFT140(NM_014714.4):c.194C>T (p.(Ala65Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000873458" "0" "70" "16" "1634358" "1634358" "subst" "7.40101E-5" "00000" "IFT140_000277" "g.1634358G>A" "114" "{PMID:Sun 2018:30076350}" "" "IFT140 (NM_014714.3)):c.1219C>T(p.R407W)/c.2446C>T(p.R816W)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1584357G>A" "" "likely pathogenic" "" "0000873459" "0" "70" "16" "1576751" "1576751" "subst" "0.000253942" "00000" "IFT140_000096" "g.1576751G>A" "114" "{PMID:Sun 2018:30076350}" "" "IFT140 (NM_014714.3)):c.1219C>T(p.R407W)/c.2446C>T(p.R816W)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1526750G>A" "" "likely pathogenic" "" "0000892542" "0" "50" "16" "1568341" "1568341" "subst" "8.1491E-6" "01804" "IFT140_000278" "g.1568341G>C" "" "" "" "IFT140(NM_014714.3):c.4058C>G (p.(Pro1353Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892543" "0" "10" "16" "1570321" "1570321" "subst" "0.000150351" "02326" "IFT140_000130" "g.1570321G>A" "" "" "" "IFT140(NM_014714.4):c.3684C>T (p.S1228=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892544" "0" "90" "16" "1574796" "1574796" "del" "0" "02326" "IFT140_000279" "g.1574796del" "" "" "" "IFT140(NM_014714.3):c.2987del (p.(Asn996MetfsTer8)), IFT140(NM_014714.4):c.2987delA (p.N996Mfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892545" "0" "30" "16" "1576005" "1576005" "subst" "9.05592E-5" "01804" "IFT140_000280" "g.1576005C>T" "" "" "" "IFT140(NM_014714.3):c.2651G>A (p.(Arg884Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892546" "0" "30" "16" "1576628" "1576628" "subst" "0.00310376" "02326" "IFT140_000141" "g.1576628C>T" "" "" "" "IFT140(NM_014714.3):c.2569G>A (p.G857S, p.(Gly857Ser)), IFT140(NM_014714.4):c.2569G>A (p.G857S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892547" "0" "10" "16" "1576647" "1576647" "subst" "0.00132766" "02326" "IFT140_000170" "g.1576647G>A" "" "" "" "IFT140(NM_014714.4):c.2550C>T (p.A850=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892567" "0" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "02326" "IFT140_000006" "g.1607935C>A" "" "" "" "IFT140(NM_014714.3):c.2399+1G>T (p.?), IFT140(NM_014714.4):c.2399+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892568" "0" "30" "16" "1608088" "1608088" "subst" "0.000869" "02330" "IFT140_000281" "g.1608088G>A" "" "" "" "IFT140(NM_014714.4):c.2247C>T (p.H749=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892571" "0" "50" "16" "1613993" "1613993" "subst" "6.97393E-5" "01804" "IFT140_000214" "g.1613993C>T" "" "" "" "IFT140(NM_014714.3):c.2067+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892572" "0" "30" "16" "1614132" "1614132" "subst" "0.000320318" "02326" "IFT140_000282" "g.1614132T>C" "" "" "" "IFT140(NM_014714.4):c.1933A>G (p.N645D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892573" "0" "70" "16" "1614157" "1614157" "del" "0" "01804" "IFT140_000283" "g.1614157del" "" "" "" "IFT140(NM_014714.3):c.1909del (p.(Leu637Serfs*7))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892574" "0" "30" "16" "1616239" "1616239" "subst" "0.000966443" "02326" "IFT140_000146" "g.1616239T>C" "" "" "" "IFT140(NM_014714.3):c.1824A>G (p.T608=), IFT140(NM_014714.4):c.1824A>G (p.T608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892583" "0" "50" "16" "1630770" "1630770" "subst" "4.06157E-6" "01804" "IFT140_000103" "g.1630770C>T" "" "" "" "IFT140(NM_014714.3):c.1514G>A (p.(Arg505Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892585" "0" "50" "16" "1637271" "1637271" "subst" "1.62476E-5" "01804" "IFT140_000284" "g.1637271G>C" "" "" "" "IFT140(NM_014714.3):c.937C>G (p.(Leu313Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892586" "0" "70" "16" "1642172" "1642172" "subst" "8.12618E-6" "02327" "IFT140_000255" "g.1642172C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892587" "0" "70" "16" "1642177" "1642177" "subst" "5.28069E-5" "02327" "IFT140_000231" "g.1642177C>T" "" "" "" "IFT140(NM_014714.4):c.634G>A (p.G212R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000892588" "0" "30" "16" "1652427" "1652427" "subst" "4.06279E-6" "01804" "IFT140_000285" "g.1652427C>T" "" "" "" "IFT140(NM_014714.3):c.313G>A (p.(Asp105Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000896458" "0" "50" "16" "1633372" "1633372" "subst" "0" "00000" "IFT140_000261" "g.1633372A>C" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0" "{PMID:Chen 2021:33608557}" "" "IFT140 c.1375T>G(;)1990G>A; p.(Trp459Gly)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1583371A>C" "" "VUS" "" "0000896459" "0" "70" "16" "1614075" "1614075" "subst" "0" "00000" "IFT140_000221" "g.1614075C>T" "Taiwan Biobank: 0; GnomAD_exome_East: 0; GnomAD_All: 0.00000399" "{PMID:Chen 2021:33608557}" "" "IFT140 c.1375T>G(;)1990G>A; p.(Glu664Lys)" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.1564074C>T" "" "likely pathogenic" "" "0000914468" "0" "30" "16" "1561037" "1561037" "subst" "0.000828865" "02326" "IFT140_000062" "g.1561037G>A" "" "" "" "IFT140(NM_014714.3):c.4297C>T (p.R1433C, p.(Arg1433Cys)), IFT140(NM_014714.4):c.4297C>T (p.R1433C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914469" "0" "30" "16" "1570312" "1570312" "subst" "0.000312767" "02326" "IFT140_000018" "g.1570312C>T" "" "" "" "IFT140(NM_014714.3):c.3693G>A (p.T1231=, p.(Thr1231=)), IFT140(NM_014714.4):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914470" "0" "50" "16" "1573942" "1573942" "subst" "6.9723E-5" "01804" "IFT140_000286" "g.1573942C>T" "" "" "" "IFT140(NM_014714.3):c.3157G>A (p.(Asp1053Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914471" "0" "30" "16" "1574590" "1574590" "subst" "7.84877E-5" "02326" "IFT140_000025" "g.1574590C>T" "" "" "" "IFT140(NM_014714.3):c.3104G>A (p.R1035Q, p.(Arg1035Gln)), IFT140(NM_014714.4):c.3104G>A (p.R1035Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914472" "0" "50" "16" "1576669" "1576669" "subst" "0.000304744" "01804" "IFT140_000095" "g.1576669G>A" "" "" "" "IFT140(NM_014714.3):c.2528C>T (p.(Pro843Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914483" "0" "90" "16" "1618336" "1618337" "del" "0" "02326" "IFT140_000188" "g.1618336_1618337del" "" "" "" "IFT140(NM_014714.4):c.1655_1656delAG (p.E552Gfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000914492" "0" "30" "16" "1634241" "1634241" "subst" "0.00189981" "01804" "IFT140_000047" "g.1634241T>C" "" "" "" "IFT140(NM_014714.3):c.1336A>G (p.I446V, p.(Ile446Val)), IFT140(NM_014714.4):c.1336A>G (p.I446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914493" "0" "30" "16" "1634241" "1634241" "subst" "0.00189981" "02326" "IFT140_000047" "g.1634241T>C" "" "" "" "IFT140(NM_014714.3):c.1336A>G (p.I446V, p.(Ile446Val)), IFT140(NM_014714.4):c.1336A>G (p.I446V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000916145" "3" "50" "16" "1576739" "1576739" "subst" "0" "04436" "IFT140_000287" "g.1576739C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.2458G>A" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000916645" "3" "70" "16" "1614075" "1614075" "subst" "0" "04436" "IFT140_000221" "g.1614075C>T" "" "{PMID:Panneman 2023:36819107}" "" "c.1990G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000921488" "0" "70" "16" "1561037" "1561037" "subst" "0.000828865" "01985" "IFT140_000062" "g.1561037G>A" "" "in submission" "" "" "" "Germline" "" "rs141392067" "0" "" "" "g.1511036G>A" "" "likely pathogenic" "" "0000926132" "0" "30" "16" "1570621" "1570621" "subst" "0" "02330" "IFT140_000288" "g.1570621C>T" "" "" "" "IFT140(NM_014714.4):c.3642G>A (p.Q1214=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926133" "0" "90" "16" "1573885" "1573885" "subst" "0" "02326" "IFT140_000081" "g.1573885G>A" "" "" "" "IFT140(NM_014714.3):c.3214C>T (p.R1072*, p.(Arg1072Ter)), IFT140(NM_014714.4):c.3214C>T (p.R1072*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926134" "0" "30" "16" "1575995" "1575995" "subst" "0" "01804" "IFT140_000289" "g.1575995C>A" "" "" "" "IFT140(NM_014714.3):c.2661G>T (p.(Glu887Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926135" "0" "50" "16" "1576751" "1576751" "subst" "0.000253942" "01804" "IFT140_000096" "g.1576751G>A" "" "" "" "IFT140(NM_014714.3):c.2446C>T (p.(Arg816Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926148" "0" "30" "16" "1611967" "1611967" "subst" "5.29451E-5" "02330" "IFT140_000290" "g.1611967G>A" "" "" "" "IFT140(NM_014714.4):c.2199+19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926149" "0" "30" "16" "1616232" "1616232" "subst" "0.00079184" "02326" "IFT140_000042" "g.1616232C>T" "" "" "" "IFT140(NM_014714.3):c.1831G>A (p.V611I, p.(Val611Ile)), IFT140(NM_014714.4):c.1831G>A (p.V611I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926150" "0" "90" "16" "1621495" "1621495" "subst" "0.000129975" "02326" "IFT140_000003" "g.1621495C>T" "" "" "" "IFT140(NM_014714.3):c.1565G>A (p.G522E), IFT140(NM_014714.4):c.1565G>A (p.G522E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926152" "0" "30" "16" "1633330" "1633330" "subst" "0.000117877" "01804" "IFT140_000291" "g.1633330C>T" "" "" "" "IFT140(NM_014714.3):c.1417G>A (p.(Ala473Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926153" "0" "30" "16" "1634269" "1634269" "subst" "8.1485E-6" "02330" "IFT140_000292" "g.1634269G>A" "" "" "" "IFT140(NM_014714.4):c.1308C>T (p.V436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926154" "0" "50" "16" "1637198" "1637198" "subst" "0" "01804" "IFT140_000066" "g.1637198C>A" "" "" "" "IFT140(NM_014714.3):c.1009+1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930505" "0" "30" "16" "1569929" "1569929" "subst" "0.00216072" "02326" "IFT140_000126" "g.1569929C>G" "" "" "" "IFT140(NM_014714.3):c.3993G>C (p.Q1331H, p.(Gln1331His)), IFT140(NM_014714.4):c.3993G>C (p.Q1331H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930511" "0" "10" "16" "1608005" "1608005" "subst" "0.00277336" "02326" "IFT140_000293" "g.1608005A>C" "" "" "" "IFT140(NM_014714.3):c.2330T>G (p.(Leu777Arg)), IFT140(NM_014714.4):c.2330T>G (p.L777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930512" "0" "90" "16" "1614102" "1614102" "subst" "0" "02326" "IFT140_000294" "g.1614102G>A" "" "" "" "IFT140(NM_014714.4):c.1963C>T (p.Q655*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930513" "0" "90" "16" "1633370" "1633370" "subst" "8.12883E-5" "02327" "IFT140_000190" "g.1633370C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950511" "0" "70" "16" "1550445" "1550445" "subst" "0.000175433" "02329" "TELO2_000006" "g.1550445G>T" "" "" "" "TELO2(NM_016111.4):c.1100G>T (p.C367F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950512" "0" "70" "16" "1557606" "1557606" "subst" "0.000125895" "02329" "TELO2_000007" "g.1557606G>A" "" "" "" "TELO2(NM_016111.4):c.2296G>A (p.V766M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950513" "0" "30" "16" "1570624" "1570624" "subst" "8.78247E-5" "02330" "IFT140_000167" "g.1570624C>T" "" "" "" "IFT140(NM_014714.3):c.3639G>A (p.T1213=), IFT140(NM_014714.4):c.3639G>A (p.T1213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950526" "0" "30" "16" "1616275" "1616275" "subst" "0.000617244" "02326" "IFT140_000043" "g.1616275A>G" "" "" "" "IFT140(NM_014714.3):c.1788T>C (p.D596=, p.(Asp596=)), IFT140(NM_014714.4):c.1788T>C (p.D596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958409" "0" "50" "16" "1642505" "1642505" "subst" "4.06138E-6" "00006" "IFT140_000004" "g.1642505G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5" "Germline" "" "" "0" "" "" "g.1592504G>A" "" "VUS" "ACMG" "0000958447" "0" "70" "16" "1570686" "1570686" "subst" "0" "00006" "IFT140_000295" "g.1570686C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.1520685C>A" "" "likely pathogenic (recessive)" "ACMG" "0000958535" "0" "70" "16" "1621495" "1621495" "subst" "0.000129975" "00006" "IFT140_000003" "g.1621495C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.1571494C>T" "" "likely pathogenic (recessive)" "ACMG" "0000958687" "11" "70" "16" "1621495" "1621495" "subst" "0.000129975" "00006" "IFT140_000003" "g.1621495C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.1571494C>T" "97054" "likely pathogenic (recessive)" "ACMG" "0000958927" "0" "50" "16" "1652414" "1652414" "subst" "0" "00006" "IFT140_000296" "g.1652414A>G" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2" "Germline" "" "" "0" "" "" "g.1602413A>G" "" "VUS" "ACMG" "0000958934" "0" "90" "16" "1525990" "1709560" "del" "0" "00006" "IFT140_000251" "g.1525990_1709560del" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1_STRONG" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000958946" "11" "70" "16" "1621495" "1621495" "subst" "0.000129975" "00006" "IFT140_000003" "g.1621495C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.1571494C>T" "97054" "likely pathogenic (recessive)" "ACMG" "0000959104" "21" "70" "16" "1576045" "1576045" "subst" "0" "00006" "IFT140_000184" "g.1576045G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5_STRONG" "Germline" "" "" "0" "" "" "g.1526044G>A" "987304" "likely pathogenic (recessive)" "ACMG" "0000959367" "0" "50" "16" "1642172" "1642172" "subst" "8.12618E-6" "00006" "IFT140_000255" "g.1642172C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5" "Germline" "" "" "0" "" "" "g.1592171C>T" "" "VUS" "ACMG" "0000959372" "3" "50" "16" "1642172" "1642172" "subst" "8.12618E-6" "00006" "IFT140_000255" "g.1642172C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PP3, PM2, PP5" "Germline" "" "" "0" "" "" "g.1592171C>T" "" "VUS" "ACMG" "0000959385" "21" "50" "16" "1652528" "1652528" "subst" "1.62537E-5" "00006" "IFT140_000068" "g.1652528G>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PP5" "Germline" "" "" "0" "" "" "g.1602527G>A" "" "VUS" "ACMG" "0000959472" "0" "90" "16" "1607935" "1607935" "subst" "6.09102E-5" "00006" "IFT140_000006" "g.1607935C>A" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1, PP5; no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.1557934C>A" "" "pathogenic (recessive)" "ACMG" "0000968135" "0" "70" "16" "1642177" "1642177" "subst" "5.28069E-5" "02326" "IFT140_000231" "g.1642177C>T" "" "" "" "IFT140(NM_014714.4):c.634G>A (p.G212R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000972394" "1" "90" "16" "1616271" "1616271" "dup" "0" "00006" "IFT140_000305" "g.1616271dup" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "1795dupA" "ACMG PVS1, PM2, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.1566270dup" "" "pathogenic" "ACMG" "0000972395" "1" "90" "16" "1576697" "1576697" "subst" "0" "00006" "IFT140_000303" "g.1576697G>A" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "" "ACMG PVS1, PM2, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.1526696G>A" "" "pathogenic" "ACMG" "0000972400" "1" "90" "16" "1612119" "1612119" "subst" "4.62792E-6" "00006" "IFT140_000069" "g.1612119T>C" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "" "ACMG PVS1, PM3, PM2, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.1562118T>C" "" "pathogenic" "ACMG" "0000981613" "0" "30" "16" "1551781" "1551781" "subst" "0" "01804" "IFT140_000297" "g.1551781G>A" "" "" "" "TELO2(NM_016111.4):c.1472+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981614" "0" "50" "16" "1560953" "1560953" "subst" "0.000157454" "01804" "IFT140_000298" "g.1560953C>T" "" "" "" "IFT140(NM_014714.4):c.4381G>A (p.(Asp1461Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981615" "0" "30" "16" "1567852" "1567852" "subst" "0" "01804" "IFT140_000299" "g.1567852C>T" "" "" "" "IFT140(NM_014714.4):c.4182+365G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981616" "0" "50" "16" "1574553" "1574553" "subst" "0" "01804" "IFT140_000300" "g.1574553C>T" "" "" "" "IFT140(NM_014714.4):c.3141G>A (p.(Lys1047=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981617" "0" "50" "16" "1574651" "1574651" "subst" "4.35123E-6" "01804" "IFT140_000301" "g.1574651G>T" "" "" "" "IFT140(NM_014714.4):c.3043C>A (p.(His1015Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981618" "0" "70" "16" "1574796" "1574796" "del" "0" "01804" "IFT140_000279" "g.1574796del" "" "" "" "IFT140(NM_014714.3):c.2987del (p.(Asn996MetfsTer8)), IFT140(NM_014714.4):c.2987delA (p.N996Mfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981619" "0" "50" "16" "1575323" "1575323" "subst" "6.141E-5" "01804" "IFT140_000302" "g.1575323C>T" "" "" "" "IFT140(NM_014714.4):c.2773G>A (p.(Glu925Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981644" "0" "50" "16" "1607975" "1607975" "subst" "0.000207088" "01804" "IFT140_000304" "g.1607975T>C" "" "" "" "IFT140(NM_014714.4):c.2360A>G (p.(Asp787Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981645" "0" "50" "16" "1608018" "1608018" "subst" "2.03029E-5" "01804" "IFT140_000097" "g.1608018G>A" "" "" "" "IFT140(NM_014714.4):c.2317C>T (p.(Arg773Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981647" "0" "50" "16" "1621521" "1621521" "subst" "0" "01804" "IFT140_000306" "g.1621521T>G" "" "" "" "IFT140(NM_014714.4):c.1539A>C (p.(Gln513His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981659" "0" "70" "16" "1633325" "1633326" "ins" "0" "01804" "IFT140_000195" "g.1633325_1633326insTT" "" "" "" "IFT140(NM_014714.3):c.1422_1423insAA (p.(Arg475AsnfsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000981660" "0" "50" "16" "1634273" "1634273" "subst" "6.92385E-5" "01804" "IFT140_000048" "g.1634273C>T" "" "" "" "IFT140(NM_014714.3):c.1304G>A (p.G435E), IFT140(NM_014714.4):c.1304G>A (p.(Gly435Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981661" "0" "50" "16" "1652513" "1652513" "subst" "0" "01804" "IFT140_000307" "g.1652513A>G" "" "" "" "IFT140(NM_014714.4):c.227T>C (p.(Leu76Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001906" "0" "50" "16" "1545523" "1545523" "subst" "0" "02327" "IFT140_000308" "g.1545523T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001907" "0" "50" "16" "1560989" "1560989" "subst" "0" "01804" "IFT140_000309" "g.1560989C>T" "" "" "" "IFT140(NM_014714.3):c.4345G>A (p.(Glu1449Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001908" "0" "30" "16" "1569871" "1569871" "subst" "0.00532764" "01804" "IFT140_000310" "g.1569871C>T" "" "" "" "IFT140(NM_014714.3):c.4040+11G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001909" "0" "30" "16" "1569872" "1569872" "subst" "0.00399486" "01804" "IFT140_000011" "g.1569872G>A" "" "" "" "IFT140(NM_014714.3):c.4040+10C>T (p.(=)), IFT140(NM_014714.4):c.4040+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001910" "0" "50" "16" "1569942" "1569942" "subst" "4.20925E-6" "01804" "IFT140_000311" "g.1569942G>T" "" "" "" "IFT140(NM_014714.3):c.3980C>A (p.(Thr1327Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001911" "0" "50" "16" "1573613" "1573613" "subst" "1.21953E-5" "01804" "IFT140_000220" "g.1573613G>A" "" "" "" "IFT140(NM_014714.3):c.3359C>T (p.(Thr1120Met)), IFT140(NM_014714.4):c.3359C>T (p.T1120M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001943" "0" "50" "16" "1614090" "1614090" "subst" "4.0848E-5" "01804" "IFT140_000144" "g.1614090G>A" "" "" "" "IFT140(NM_014714.3):c.1975C>T (p.R659W, p.(Arg659Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001944" "0" "90" "16" "1614102" "1614102" "subst" "0" "02327" "IFT140_000294" "g.1614102G>A" "" "" "" "IFT140(NM_014714.4):c.1963C>T (p.Q655*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001973" "0" "70" "16" "1637198" "1637198" "subst" "0" "01804" "IFT140_000243" "g.1637198C>G" "" "" "" "IFT140(NM_014714.3):c.1009+1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001974" "0" "30" "16" "1637986" "1637986" "subst" "1.22227E-5" "01804" "IFT140_000312" "g.1637986C>T" "" "" "" "IFT140(NM_014714.3):c.850G>A (p.(Ala284Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001975" "0" "30" "16" "1642549" "1642549" "subst" "0.000264097" "01804" "IFT140_000056" "g.1642549C>T" "" "" "" "IFT140(NM_014714.3):c.410G>A (p.R137Q, p.(Arg137Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015292" "0" "10" "16" "1560954" "1560954" "subst" "0.00492433" "01804" "IFT140_000313" "g.1560954G>A" "" "" "" "IFT140(NM_014714.3):c.4380C>T (p.(Asp1460=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015293" "0" "30" "16" "1569932" "1569932" "subst" "0.00529356" "01804" "IFT140_000314" "g.1569932C>T" "" "" "" "IFT140(NM_014714.3):c.3990G>A (p.(Ala1330=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015294" "0" "50" "16" "1575310" "1575310" "subst" "4.0835E-5" "01804" "IFT140_000086" "g.1575310G>A" "" "" "" "IFT140(NM_014714.3):c.2786C>T (p.(Thr929Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015295" "0" "50" "16" "1576655" "1576655" "subst" "0.000272387" "02327" "IFT140_000094" "g.1576655G>A" "" "" "" "IFT140(NM_014714.4):c.2542C>T (p.(Arg848Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015296" "0" "30" "16" "1576743" "1576743" "subst" "0.00766267" "01804" "IFT140_000315" "g.1576743G>A" "" "" "" "IFT140(NM_014714.3):c.2454C>T (p.(Asp818=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015304" "0" "50" "16" "1618262" "1618262" "subst" "2.06415E-5" "01804" "IFT140_000316" "g.1618262G>A" "" "" "" "IFT140(NM_014714.3):c.1726C>T (p.(Arg576Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015307" "0" "10" "16" "1642333" "1642333" "subst" "0.00592873" "01804" "IFT140_000317" "g.1642333C>T" "" "" "" "IFT140(NM_014714.3):c.492-14G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001015308" "0" "30" "16" "1642339" "1642339" "subst" "0.000735641" "01804" "IFT140_000055" "g.1642339G>A" "" "" "" "IFT140(NM_014714.3):c.492-20C>T (p.(=)), IFT140(NM_014714.4):c.492-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026565" "0" "30" "16" "1570312" "1570312" "subst" "0.000312767" "01804" "IFT140_000018" "g.1570312C>T" "" "" "" "IFT140(NM_014714.3):c.3693G>A (p.T1231=, p.(Thr1231=)), IFT140(NM_014714.4):c.3693G>A (p.T1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001026577" "0" "30" "16" "1616275" "1616275" "subst" "0.000617244" "01804" "IFT140_000043" "g.1616275A>G" "" "" "" "IFT140(NM_014714.3):c.1788T>C (p.D596=, p.(Asp596=)), IFT140(NM_014714.4):c.1788T>C (p.D596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027772" "21" "70" "16" "1637962" "1637962" "subst" "4.09326E-6" "00006" "IFT140_000002" "g.1637962C>T" "" "{PMID:Schmidts 2013:23418020}" "" "874C>T" "" "Germline" "" "" "0" "" "" "g.1587961C>T" "" "likely pathogenic (recessive)" "" "0001027798" "11" "90" "16" "1621495" "1621495" "subst" "0.000129975" "00006" "IFT140_000003" "g.1621495C>T" "" "{PMID:Schmidts 2013:23418020}" "" "" "" "Germline" "" "" "0" "" "" "g.1571494C>T" "" "pathogenic (recessive)" "" "0001027799" "21" "90" "16" "1637962" "1637962" "subst" "4.09326E-6" "00006" "IFT140_000002" "g.1637962C>T" "" "{PMID:Schmidts 2013:23418020}" "" "874C>T" "" "Germline" "" "" "0" "" "" "g.1587961C>T" "" "pathogenic (recessive)" "" "0001030946" "21" "90" "16" "1637962" "1637962" "subst" "4.09326E-6" "00006" "IFT140_000002" "g.1637962C>T" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "" "Germline" "" "" "0" "" "" "g.1587961C>T" "" "pathogenic (recessive)" "ACMG" "0001040789" "0" "50" "16" "1544271" "1544271" "subst" "3.68825E-5" "01804" "IFT140_000318" "g.1544271C>A" "" "" "" "TELO2(NM_016111.4):c.-12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040790" "0" "50" "16" "1549311" "1549311" "subst" "0.00025596" "01804" "IFT140_000319" "g.1549311C>T" "" "" "" "TELO2(NM_016111.4):c.910C>T (p.(Leu304=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040791" "0" "50" "16" "1550374" "1550374" "subst" "0" "01804" "IFT140_000320" "g.1550374G>A" "" "" "" "TELO2(NM_016111.4):c.1029G>A (p.(Trp343*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040792" "0" "50" "16" "1550474" "1550474" "subst" "0.000131591" "01804" "IFT140_000321" "g.1550474C>T" "" "" "" "TELO2(NM_016111.4):c.1129C>T (p.(Arg377Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040793" "0" "50" "16" "1551424" "1551424" "subst" "5.3542E-5" "01804" "IFT140_000322" "g.1551424G>A" "" "" "" "TELO2(NM_016111.4):c.1285G>A (p.(Glu429Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040794" "0" "50" "16" "1556276" "1556276" "subst" "4.07461E-6" "01804" "IFT140_000323" "g.1556276G>A" "" "" "" "TELO2(NM_016111.4):c.2072G>A (p.(Arg691Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040795" "0" "70" "16" "1557372" "1557372" "subst" "4.11455E-6" "01804" "IFT140_000324" "g.1557372G>A" "" "" "" "TELO2(NM_016111.4):c.2291+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040796" "0" "30" "16" "1567109" "1567109" "subst" "0" "01804" "IFT140_000325" "g.1567109C>T" "" "" "" "IFT140(NM_014714.4):c.4182+1108G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040797" "0" "30" "16" "1569934" "1569934" "subst" "0.00134738" "01804" "IFT140_000012" "g.1569934C>T" "" "" "" "IFT140(NM_014714.3):c.3988G>A (p.(Ala1330Thr)), IFT140(NM_014714.4):c.3988G>A (p.A1330T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040798" "0" "70" "16" "1569942" "1569942" "del" "0" "01804" "IFT140_000326" "g.1569942del" "" "" "" "IFT140(NM_014714.4):c.3981del (p.(Arg1328Glyfs*12))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040799" "0" "50" "16" "1570616" "1570616" "subst" "0" "01804" "IFT140_000327" "g.1570616C>T" "" "" "" "IFT140(NM_014714.4):c.3647G>A (p.(Gly1216Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040800" "0" "50" "16" "1573645" "1573647" "dup" "0" "01804" "IFT140_000328" "g.1573645_1573647dup" "" "" "" "IFT140(NM_014714.4):c.3325_3327dup (p.(Ala1109dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040801" "0" "70" "16" "1574667" "1574667" "del" "0" "01804" "IFT140_000329" "g.1574667del" "" "" "" "IFT140(NM_014714.4):c.3028del (p.(Leu1010TrpfsTer47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040802" "0" "30" "16" "1574688" "1574688" "subst" "8.93471E-6" "01804" "IFT140_000330" "g.1574688T>C" "" "" "" "IFT140(NM_014714.4):c.3006A>G (p.(Gln1002=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040803" "0" "30" "16" "1574692" "1574692" "subst" "1.33972E-5" "01804" "IFT140_000331" "g.1574692G>A" "" "" "" "IFT140(NM_014714.3):c.3002C>T (p.(Ala1001Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040804" "0" "70" "16" "1575231" "1575231" "subst" "0" "01804" "IFT140_000332" "g.1575231C>T" "" "" "" "IFT140(NM_014714.3):c.2864+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040805" "0" "70" "16" "1575889" "1575892" "del" "0" "01804" "IFT140_000333" "g.1575889_1575892del" "" "" "" "IFT140(NM_014714.3):c.2767_2768+2del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001040807" "0" "50" "16" "1576655" "1576655" "subst" "0.000272387" "01804" "IFT140_000094" "g.1576655G>A" "" "" "" "IFT140(NM_014714.4):c.2542C>T (p.(Arg848Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040808" "0" "50" "16" "1576705" "1576705" "subst" "8.83712E-6" "01804" "IFT140_000334" "g.1576705C>T" "" "" "" "IFT140(NM_014714.4):c.2492G>A (p.(Arg831His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040809" "0" "50" "16" "1576771" "1576771" "subst" "2.10642E-5" "01804" "IFT140_000335" "g.1576771C>T" "" "" "" "IFT140(NM_014714.4):c.2426G>A (p.(Arg809His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040827" "0" "50" "16" "1614081" "1614081" "subst" "1.63256E-5" "01804" "IFT140_000336" "g.1614081C>T" "" "" "" "IFT140(NM_014714.4):c.1984G>A (p.(Val662Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040828" "0" "50" "16" "1621414" "1621414" "subst" "7.85793E-5" "01804" "IFT140_000337" "g.1621414G>A" "" "" "" "IFT140(NM_014714.4):c.1646C>T (p.(Ser549Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040829" "0" "50" "16" "1621518" "1621518" "subst" "0.00419494" "01804" "IFT140_000044" "g.1621518G>T" "" "" "" "IFT140(NM_014714.3):c.1542C>A (p.L514=, p.(Leu514=)), IFT140(NM_014714.4):c.1542C>A (p.L514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040842" "0" "30" "16" "1634209" "1634209" "subst" "8.26754E-6" "01804" "IFT140_000338" "g.1634209G>A" "" "" "" "IFT140(NM_014714.4):c.1359+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040843" "0" "50" "16" "1636187" "1636187" "subst" "8.12552E-6" "01804" "IFT140_000339" "g.1636187C>T" "" "" "" "IFT140(NM_014714.4):c.1099G>A (p.(Asp367Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040844" "0" "50" "16" "1636246" "1636246" "subst" "1.22185E-5" "01804" "IFT140_000340" "g.1636246C>T" "" "" "" "IFT140(NM_014714.4):c.1040G>A (p.(Arg347Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040845" "0" "90" "16" "1636277" "1636277" "subst" "3.70782E-5" "01804" "IFT140_000256" "g.1636277C>T" "" "" "" "IFT140(NM_014714.4):c.1010-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001040846" "0" "30" "16" "1638043" "1638043" "subst" "3.32491E-5" "02326" "IFT140_000341" "g.1638043C>T" "" "" "" "IFT140(NM_014714.4):c.811-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040847" "0" "30" "16" "1642178" "1642178" "subst" "2.84329E-5" "01804" "IFT140_000342" "g.1642178G>A" "" "" "" "IFT140(NM_014714.4):c.633C>T (p.(Asp211=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040848" "0" "50" "16" "1642227" "1642227" "subst" "4.06081E-6" "01804" "IFT140_000176" "g.1642227A>G" "" "" "" "IFT140(NM_014714.3):c.584T>C (p.L195P), IFT140(NM_014714.4):c.584T>C (p.(Leu195Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040849" "0" "30" "16" "1652546" "1652546" "subst" "8.1279E-5" "01804" "IFT140_000276" "g.1652546G>A" "" "" "" "IFT140(NM_014714.3):c.194C>T (p.A65V), IFT140(NM_014714.4):c.194C>T (p.(Ala65Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046534" "0" "90" "16" "1573885" "1573885" "subst" "0" "02327" "IFT140_000081" "g.1573885G>A" "" "" "" "IFT140(NM_014714.3):c.3214C>T (p.R1072*, p.(Arg1072Ter)), IFT140(NM_014714.4):c.3214C>T (p.R1072*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046536" "0" "50" "16" "1637288" "1637288" "subst" "6.09484E-5" "02325" "IFT140_000343" "g.1637288C>T" "" "" "" "IFT140(NM_014714.4):c.920G>A (p.R307Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049834" "1" "70" "16" "1630797" "1630797" "subst" "9.34109E-5" "00006" "chr16_007490" "g.1630797G>A" "" "{PMID:Hussain 2023:36833373}" "" "" "" "Germline" "" "" "0" "" "" "g.1580796G>A" "" "likely pathogenic (recessive)" "" "0001049839" "2" "70" "16" "1634306" "1634327" "dup" "0" "00006" "chr16_007491" "g.1634306_1634327dup" "" "{PMID:Hussain 2023:36833373}" "" "" "" "Germline" "" "" "0" "" "" "g.1584305_1584326dup" "" "likely pathogenic (recessive)" "" "0001055320" "0" "50" "16" "1556969" "1556969" "subst" "" "01804" "chr16_007523" "g.1556969G>C" "" "" "" "TELO2(NM_016111.4):c.2143G>C (p.(Asp715His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055321" "0" "50" "16" "1556983" "1556985" "del" "" "01804" "chr16_007524" "g.1556983_1556985del" "" "" "" "TELO2(NM_016111.4):c.2157_2159del (p.(Glu719del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055322" "0" "50" "16" "1570310" "1570310" "subst" "" "01804" "chr16_007525" "g.1570310T>G" "" "" "" "IFT140(NM_014714.4):c.3695A>C (p.(Glu1232Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055323" "0" "50" "16" "1570738" "1570738" "subst" "" "01804" "IFT140_000131" "g.1570738G>C" "" "" "" "IFT140(NM_014714.3):c.3525C>G (p.(Thr1175=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055324" "0" "50" "16" "1576628" "1576628" "subst" "" "01804" "chr16_007526" "g.1576628C>G" "" "" "" "IFT140(NM_014714.4):c.2569G>C (p.(Gly857Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055325" "0" "30" "16" "1608005" "1608005" "subst" "" "01804" "IFT140_000293" "g.1608005A>C" "" "" "" "IFT140(NM_014714.3):c.2330T>G (p.(Leu777Arg)), IFT140(NM_014714.4):c.2330T>G (p.L777R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055326" "0" "50" "16" "1612095" "1612095" "subst" "" "01804" "IFT140_000142" "g.1612095A>G" "" "" "" "IFT140(NM_014714.4):c.2090T>C (p.F697S, p.(Phe697Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055327" "0" "30" "16" "1639658" "1639658" "subst" "" "01804" "IFT140_000211" "g.1639658C>T" "" "" "" "IFT140(NM_014714.3):c.758G>A (p.R253Q, p.(Arg253Gln)), IFT140(NM_014714.4):c.758G>A (p.R253Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055328" "0" "50" "16" "1652553" "1652553" "subst" "" "01804" "IFT140_000115" "g.1652553G>A" "" "" "" "IFT140(NM_014714.4):c.187C>T (p.(Arg63Trp))" "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 IFT140 ## Count = 555 "{{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}}" "0000174263" "00009860" "50" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Gly140Arg)" "5" "0000174264" "00009860" "70" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Leu152Phe)" "5" "0000174265" "00009860" "90" "490" "0" "490" "0" "c.490G>T" "r.(?)" "p.(Glu164*)" "6" "0000174266" "00009860" "50" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Glu267Gly)" "7" "0000174267" "00009860" "70" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "8" "0000174268" "00009860" "90" "1380" "0" "1380" "0" "c.1380del" "r.(?)" "p.(Asn460Lysfs*28)" "12" "0000174269" "00009860" "70" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "14" "0000174270" "00009860" "90" "2278" "0" "2278" "0" "c.2278C>T" "r.(?)" "p.(Arg760*)" "19" "0000174271" "00009860" "90" "2399" "1" "2399" "1" "c.2399+1G>T" "r.spl" "p.?" "19i" "0000174272" "00009860" "90" "4078" "0" "4078" "0" "c.4078T>C" "r.(?)" "p.(Cys1360Arg)" "30" "0000247970" "00009860" "10" "1968" "0" "1968" "0" "c.1968T>C" "r.(?)" "p.(Ser656=)" "" "0000248025" "00009860" "10" "3270" "19" "3270" "19" "c.3270+19T>C" "r.(=)" "p.(=)" "" "0000253231" "00009860" "10" "1968" "0" "1968" "0" "c.1968T>C" "r.(?)" "p.(Ser656=)" "" "0000253286" "00009860" "10" "3270" "19" "3270" "19" "c.3270+19T>C" "r.(=)" "p.(=)" "" "0000253480" "00009860" "10" "2253" "0" "2253" "0" "c.2253T>C" "r.(?)" "p.(Pro751=)" "" "0000254258" "00009860" "30" "1788" "0" "1788" "0" "c.1788T>C" "r.(?)" "p.(Asp596=)" "" "0000255997" "00009860" "50" "3743" "0" "3743" "0" "c.3743T>C" "r.(?)" "p.(Ile1248Thr)" "" "0000277851" "00009860" "10" "1542" "0" "1542" "0" "c.1542C>A" "r.(?)" "p.(Leu514=)" "" "0000277852" "00009860" "10" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Val611Ile)" "" "0000277853" "00009860" "10" "2067" "4" "2067" "4" "c.2067+4C>T" "r.spl?" "p.?" "" "0000277854" "00009860" "10" "2400" "-15165" "2400" "-15165" "c.2400-15165C>T" "r.(=)" "p.(=)" "" "0000277855" "00009860" "10" "2400" "-15290" "2400" "-15290" "c.2400-15290A>G" "r.(=)" "p.(=)" "" "0000277856" "00009860" "10" "2400" "-7497" "2400" "-7497" "c.2400-7497G>A" "r.(=)" "p.(=)" "" "0000277857" "00009860" "10" "2661" "0" "2661" "0" "c.2661G>A" "r.(?)" "p.(Glu887=)" "" "0000277858" "00009860" "30" "2768" "18" "2768" "18" "c.2768+18G>A" "r.(=)" "p.(=)" "" "0000277859" "00009860" "10" "3079" "0" "3079" "0" "c.3079G>A" "r.(?)" "p.(Gly1027Arg)" "" "0000277860" "00009860" "10" "3104" "0" "3104" "0" "c.3104G>A" "r.(?)" "p.(Arg1035Gln)" "" "0000277861" "00009860" "10" "3426" "0" "3426" "0" "c.3426G>A" "r.(?)" "p.(Ala1142=)" "" "0000277862" "00009860" "10" "352" "0" "352" "0" "c.352C>T" "r.(?)" "p.(Leu118=)" "" "0000277863" "00009860" "50" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Leu)" "" "0000277864" "00009860" "10" "3645" "0" "3645" "0" "c.3645C>T" "r.(?)" "p.(Ala1215=)" "" "0000277865" "00009860" "10" "3660" "14" "3660" "14" "c.3660+14G>A" "r.(=)" "p.(=)" "" "0000277866" "00009860" "10" "369" "12" "369" "12" "c.369+12C>T" "r.(=)" "p.(=)" "" "0000277867" "00009860" "10" "3693" "0" "3693" "0" "c.3693G>A" "r.(?)" "p.(Thr1231=)" "" "0000277868" "00009860" "10" "3711" "0" "3711" "0" "c.3711C>T" "r.(?)" "p.(Phe1237=)" "" "0000277869" "00009860" "30" "3874" "-11" "3874" "-11" "c.3874-11C>T" "r.(=)" "p.(=)" "" "0000277870" "00009860" "10" "3988" "0" "3988" "0" "c.3988G>A" "r.(?)" "p.(Ala1330Thr)" "" "0000277871" "00009860" "10" "4040" "10" "4040" "10" "c.4040+10C>T" "r.(=)" "p.(=)" "" "0000277872" "00009860" "10" "492" "-20" "492" "-20" "c.492-20C>T" "r.(=)" "p.(=)" "" "0000277873" "00009860" "10" "546" "0" "546" "0" "c.546C>T" "r.(?)" "p.(Asp182=)" "" "0000281486" "00009860" "10" "-17" "0" "-17" "0" "c.-17G>C" "r.(?)" "p.(=)" "" "0000281487" "00009860" "10" "2919" "0" "2919" "0" "c.2919C>T" "r.(?)" "p.(Ala973=)" "" "0000281488" "00009860" "10" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Ala1070Val)" "" "0000281489" "00009860" "10" "635" "-12" "635" "-12" "c.635-12G>C" "r.(=)" "p.(=)" "" "0000285168" "00009860" "10" "3079" "0" "3079" "0" "c.3079G>A" "r.(?)" "p.(Gly1027Arg)" "" "0000285169" "00009860" "10" "836" "0" "836" "0" "c.836G>C" "r.(?)" "p.(Arg279Pro)" "" "0000289449" "00009860" "10" "-17" "0" "-17" "0" "c.-17G>C" "r.(?)" "p.(=)" "" "0000289450" "00009860" "10" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Val398Ile)" "" "0000289451" "00009860" "50" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Gly435Glu)" "" "0000289452" "00009860" "50" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Ile446Val)" "" "0000289453" "00009860" "50" "1541" "0" "1542" "0" "c.1541_1542delinsAA" "r.(?)" "p.(Leu514Gln)" "" "0000289454" "00009860" "30" "1542" "0" "1542" "0" "c.1542C>A" "r.(?)" "p.(Leu514=)" "" "0000289455" "00009860" "10" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621Gln)" "" "0000289456" "00009860" "30" "2133" "0" "2133" "0" "c.2133C>T" "r.(?)" "p.(Phe711=)" "" "0000289457" "00009860" "50" "2486" "0" "2486" "0" "c.2486A>G" "r.(?)" "p.(His829Arg)" "" "0000289458" "00009860" "30" "2661" "0" "2661" "0" "c.2661G>A" "r.(?)" "p.(Glu887=)" "" "0000289459" "00009860" "10" "2919" "0" "2919" "0" "c.2919C>T" "r.(?)" "p.(Ala973=)" "" "0000289460" "00009860" "10" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Ala1070Val)" "" "0000289462" "00009860" "30" "3693" "0" "3693" "0" "c.3693G>A" "r.(?)" "p.(Thr1231=)" "" "0000289463" "00009860" "30" "3711" "0" "3711" "0" "c.3711C>T" "r.(?)" "p.(Phe1237=)" "" "0000289464" "00009860" "30" "3789" "0" "3789" "0" "c.3789G>A" "r.(?)" "p.(Pro1263=)" "" "0000289465" "00009860" "50" "3955" "0" "3960" "0" "c.3955_3960del" "r.(?)" "p.(Ala1319_Lys1320del)" "" "0000289466" "00009860" "30" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137Gln)" "" "0000289467" "00009860" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Gly202Arg)" "" "0000289468" "00009860" "10" "635" "-12" "635" "-12" "c.635-12G>C" "r.(=)" "p.(=)" "" "0000289469" "00009860" "30" "695" "0" "695" "0" "c.695C>T" "r.(?)" "p.(Thr232Met)" "" "0000289470" "00009860" "10" "836" "0" "836" "0" "c.836G>C" "r.(?)" "p.(Arg279Pro)" "" "0000309214" "00009860" "10" "2399" "2892" "2399" "2892" "c.2399+2892G>A" "r.(=)" "p.(=)" "" "0000324424" "00009860" "50" "1541" "0" "1541" "0" "c.1541T>A" "r.(?)" "p.(Leu514His)" "" "0000339506" "00009860" "10" "2253" "0" "2253" "0" "c.2253T>C" "r.(?)" "p.(Pro751=)" "" "0000341920" "00009860" "50" "4297" "0" "4297" "0" "c.4297C>T" "r.(?)" "p.(Arg1433Cys)" "" "0000348170" "00009860" "50" "3788" "0" "3788" "0" "c.3788C>T" "r.(?)" "p.(Pro1263Leu)" "" "0000348564" "00009860" "70" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Pro71Leu)" "" "0000350216" "00009860" "70" "2767" "0" "2767" "0" "c.2767T>G" "r.(?)" "p.(Tyr923Asp)" "" "0000350733" "00009860" "50" "1652" "3" "1652" "3" "c.1652+3A>T" "r.spl?" "p.?" "" "0000350734" "00009860" "90" "1009" "1" "1009" "1" "c.1009+1G>T" "r.spl?" "p.?" "" "0000368952" "00009860" "70" "2068" "-2" "2068" "-2" "c.2068-2A>G" "r.spl" "p.?" "" "0000477108" "00009860" "50" "4339" "0" "4339" "0" "c.4339G>T" "r.(?)" "p.(Ala1447Ser)" "" "0000477109" "00009860" "50" "4214" "0" "4216" "0" "c.4214_4216dup" "r.(?)" "p.(Arg1405dup)" "" "0000477110" "00009860" "50" "4132" "0" "4132" "0" "c.4132G>A" "r.(?)" "p.(Val1378Ile)" "" "0000477111" "00009860" "50" "4073" "0" "4073" "0" "c.4073A>G" "r.(?)" "p.(Lys1358Arg)" "" "0000477112" "00009860" "50" "3988" "0" "3988" "0" "c.3988G>A" "r.(?)" "p.(Ala1330Thr)" "" "0000477113" "00009860" "50" "3646" "0" "3646" "0" "c.3646G>A" "r.(?)" "p.(Gly1216Ser)" "" "0000477114" "00009860" "50" "3602" "0" "3602" "0" "c.3602G>A" "r.(?)" "p.(Arg1201His)" "" "0000477115" "00009860" "50" "3403" "0" "3403" "0" "c.3403G>A" "r.(?)" "p.(Glu1135Lys)" "" "0000477116" "00009860" "50" "3338" "0" "3338" "0" "c.3338T>C" "r.(?)" "p.(Ile1113Thr)" "" "0000477117" "00009860" "90" "3271" "-2" "3271" "-2" "c.3271-2A>C" "r.spl?" "p.?" "" "0000477118" "00009860" "50" "3246" "0" "3246" "0" "c.3246C>G" "r.(?)" "p.(Asp1082Glu)" "" "0000477119" "00009860" "50" "3215" "0" "3215" "0" "c.3215G>A" "r.(?)" "p.(Arg1072Gln)" "" "0000477120" "00009860" "90" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072*)" "" "0000477121" "00009860" "10" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Ala1070Val)" "" "0000477122" "00009860" "10" "3079" "0" "3079" "0" "c.3079G>A" "r.(?)" "p.(Gly1027Arg)" "" "0000477123" "00009860" "90" "3014" "0" "3021" "0" "c.3014_3021del" "r.(?)" "p.(Asn1005Argfs*112)" "" "0000477124" "00009860" "50" "2997" "3" "2997" "3" "c.2997+3A>G" "r.spl?" "p.?" "" "0000477125" "00009860" "50" "2945" "0" "2945" "0" "c.2945G>A" "r.(?)" "p.(Arg982Gln)" "" "0000477126" "00009860" "50" "2935" "0" "2935" "0" "c.2935G>A" "r.(?)" "p.(Glu979Lys)" "" "0000477127" "00009860" "50" "2786" "0" "2786" "0" "c.2786C>T" "r.(?)" "p.(Thr929Met)" "" "0000477128" "00009860" "90" "2772" "0" "2772" "0" "c.2772C>G" "r.(?)" "p.(Tyr924*)" "" "0000477129" "00009860" "90" "2768" "4" "2768" "7" "c.2768+4_2768+7del" "r.spl?" "p.?" "" "0000477130" "00009860" "50" "2755" "0" "2755" "0" "c.2755C>G" "r.(?)" "p.(Arg919Gly)" "" "0000477131" "00009860" "50" "2734" "0" "2734" "0" "c.2734G>A" "r.(?)" "p.(Glu912Lys)" "" "0000477132" "00009860" "50" "2717" "0" "2717" "0" "c.2717G>T" "r.(?)" "p.(Arg906Leu)" "" "0000477133" "00009860" "50" "2669" "0" "2669" "0" "c.2669A>C" "r.(?)" "p.(Gln890Pro)" "" "0000477134" "00009860" "50" "2645" "0" "2645" "0" "c.2645C>T" "r.(?)" "p.(Ala882Val)" "" "0000477135" "00009860" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Cys)" "" "0000477136" "00009860" "50" "2528" "0" "2528" "0" "c.2528C>T" "r.(?)" "p.(Pro843Leu)" "" "0000477137" "00009860" "50" "2446" "0" "2446" "0" "c.2446C>T" "r.(?)" "p.(Arg816Trp)" "" "0000477138" "00009860" "50" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Trp)" "" "0000477139" "00009860" "50" "2279" "0" "2279" "0" "c.2279G>A" "r.(?)" "p.(Arg760Gln)" "" "0000477140" "00009860" "50" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000477141" "00009860" "50" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Gly684Glu)" "" "0000477142" "00009860" "50" "1973" "0" "1973" "0" "c.1973C>T" "r.(?)" "p.(Pro658Leu)" "" "0000477143" "00009860" "10" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621Gln)" "" "0000477144" "00009860" "90" "1526" "0" "1527" "0" "c.1526_1527del" "r.(?)" "p.(Gly509AspfsTer12)" "" "0000477145" "00009860" "50" "1514" "0" "1514" "0" "c.1514G>A" "r.(?)" "p.(Arg505Gln)" "" "0000477146" "00009860" "50" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Val486Met)" "" "0000477147" "00009860" "50" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Cys482Tyr)" "" "0000477148" "00009860" "50" "1405" "0" "1405" "0" "c.1405C>A" "r.(?)" "p.(Leu469Ile)" "" "0000477149" "00009860" "10" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Val398Ile)" "" "0000477150" "00009860" "50" "992" "0" "992" "0" "c.992G>A" "r.(?)" "p.(Cys331Tyr)" "" "0000477151" "00009860" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Gly296Arg)" "" "0000477152" "00009860" "50" "772" "0" "772" "0" "c.772A>T" "r.(?)" "p.(Thr258Ser)" "" "0000477153" "00009860" "50" "676" "0" "676" "0" "c.676G>T" "r.(?)" "p.(Val226Leu)" "" "0000477154" "00009860" "50" "674" "0" "674" "0" "c.674A>G" "r.(?)" "p.(Gln225Arg)" "" "0000477155" "00009860" "50" "526" "0" "526" "0" "c.526G>A" "r.(?)" "p.(Gly176Ser)" "" "0000477156" "00009860" "50" "491" "4" "491" "4" "c.491+4A>G" "r.spl?" "p.?" "" "0000477157" "00009860" "50" "359" "0" "359" "0" "c.359C>G" "r.(?)" "p.(Ser120Cys)" "" "0000477158" "00009860" "50" "215" "0" "215" "0" "c.215C>T" "r.(?)" "p.(Thr72Met)" "" "0000477159" "00009860" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Trp)" "" "0000477160" "00009860" "50" "83" "0" "83" "0" "c.83C>A" "r.(?)" "p.(Pro28Gln)" "" "0000477591" "00009860" "10" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Ala1070Val)" "" "0000477592" "00009860" "10" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621Gln)" "" "0000477593" "00009860" "10" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Val398Ile)" "" "0000477594" "00009860" "50" "772" "0" "772" "0" "c.772A>T" "r.(?)" "p.(Thr258Ser)" "" "0000487563" "00009860" "90" "2786" "0" "2786" "0" "c.2786del" "r.(?)" "p.(Thr929Serfs*21)" "22" "0000487564" "00009860" "90" "4252" "0" "4252" "0" "c.4252C>T" "r.(?)" "p.(Gln1418*)" "31" "0000556688" "00009860" "30" "14925" "0" "14925" "0" "c.*10536G>A" "r.(=)" "p.(=)" "" "0000556689" "00009860" "50" "13889" "0" "13889" "0" "c.*9500C>T" "r.(=)" "p.(=)" "" "0000556690" "00009860" "30" "4303" "0" "4303" "0" "c.4303G>A" "r.(?)" "p.(Val1435Ile)" "" "0000556691" "00009860" "10" "4297" "0" "4297" "0" "c.4297C>T" "r.(?)" "p.(Arg1433Cys)" "" "0000556692" "00009860" "30" "4297" "0" "4297" "0" "c.4297C>T" "r.(?)" "p.(Arg1433Cys)" "" "0000556693" "00009860" "30" "4297" "0" "4297" "0" "c.4297C>T" "r.(?)" "p.(Arg1433Cys)" "" "0000556694" "00009860" "10" "4183" "-20" "4183" "-20" "c.4183-20T>C" "r.(=)" "p.(=)" "" "0000556695" "00009860" "30" "4131" "0" "4131" "0" "c.4131C>T" "r.(?)" "p.(Asp1377=)" "" "0000556696" "00009860" "30" "4040" "10" "4040" "10" "c.4040+10C>T" "r.(=)" "p.(=)" "" "0000556697" "00009860" "30" "3993" "0" "3993" "0" "c.3993G>C" "r.(?)" "p.(Gln1331His)" "" "0000556698" "00009860" "50" "3955" "0" "3960" "0" "c.3955_3960del" "r.(?)" "p.(Ala1319_Lys1320del)" "" "0000556699" "00009860" "10" "3874" "-10" "3874" "-10" "c.3874-10A>C" "r.(=)" "p.(=)" "" "0000556700" "00009860" "30" "3874" "-10" "3874" "-10" "c.3874-10A>C" "r.(=)" "p.(=)" "" "0000556701" "00009860" "50" "3811" "0" "3811" "0" "c.3811G>T" "r.(?)" "p.(Gly1271Cys)" "" "0000556702" "00009860" "50" "3718" "0" "3718" "0" "c.3718G>A" "r.(?)" "p.(Val1240Met)" "" "0000556703" "00009860" "10" "3684" "0" "3684" "0" "c.3684C>T" "r.(?)" "p.(Ser1228=)" "" "0000556704" "00009860" "50" "3525" "0" "3525" "0" "c.3525C>G" "r.(?)" "p.(Thr1175=)" "" "0000556706" "00009860" "50" "3271" "-10" "3271" "-10" "c.3271-10G>A" "r.(=)" "p.(=)" "" "0000556707" "00009860" "50" "3086" "0" "3086" "0" "c.3086C>T" "r.(?)" "p.(Ala1029Val)" "" "0000556708" "00009860" "10" "3079" "0" "3079" "0" "c.3079G>A" "r.(?)" "p.(Gly1027Arg)" "" "0000556709" "00009860" "50" "2995" "0" "2995" "0" "c.2995A>C" "r.(?)" "p.(Lys999Gln)" "" "0000556710" "00009860" "10" "2988" "0" "2988" "0" "c.2988T>C" "r.(?)" "p.(Asn996=)" "" "0000556712" "00009860" "30" "2787" "0" "2787" "0" "c.2787G>A" "r.(?)" "p.(Thr929=)" "" "0000556713" "00009860" "30" "2787" "0" "2787" "0" "c.2787G>A" "r.(?)" "p.(Thr929=)" "" "0000556714" "00009860" "30" "2755" "0" "2755" "0" "c.2755C>G" "r.(?)" "p.(Arg919Gly)" "" "0000556715" "00009860" "50" "2636" "0" "2636" "0" "c.2636A>G" "r.(?)" "p.(Tyr879Cys)" "" "0000556717" "00009860" "10" "2583" "0" "2583" "0" "c.2583C>T" "r.(?)" "p.(Asp861=)" "" "0000556718" "00009860" "10" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Ser)" "" "0000556719" "00009860" "50" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Ser)" "" "0000556885" "00009860" "50" "2090" "0" "2090" "0" "c.2090T>C" "r.(?)" "p.(Phe697Ser)" "" "0000556886" "00009860" "30" "2067" "4" "2067" "4" "c.2067+4C>T" "r.spl?" "p.?" "" "0000556887" "00009860" "30" "2008" "0" "2008" "0" "c.2008C>T" "r.(?)" "p.(Pro670Ser)" "" "0000556888" "00009860" "50" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659Trp)" "" "0000556889" "00009860" "30" "1918" "0" "1918" "0" "c.1918G>A" "r.(?)" "p.(Asp640Asn)" "" "0000556890" "00009860" "30" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Val611Ile)" "" "0000556891" "00009860" "30" "1824" "0" "1824" "0" "c.1824A>G" "r.(?)" "p.(Thr608=)" "" "0000556892" "00009860" "50" "1741" "0" "1741" "0" "c.1741G>A" "r.(?)" "p.(Gly581Arg)" "" "0000556893" "00009860" "90" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "" "0000556894" "00009860" "10" "1541" "0" "1541" "0" "c.1541T>A" "r.(?)" "p.(Leu514His)" "" "0000556895" "00009860" "30" "1541" "0" "1541" "0" "c.1541T>A" "r.(?)" "p.(Leu514His)" "" "0000556968" "00009860" "30" "1524" "3" "1524" "3" "c.1524+3A>G" "r.spl?" "p.?" "" "0000556981" "00009860" "30" "1322" "0" "1322" "0" "c.1322G>A" "r.(?)" "p.(Arg441His)" "" "0000556982" "00009860" "30" "1310" "0" "1310" "0" "c.1310C>T" "r.(?)" "p.(Ala437Val)" "" "0000556983" "00009860" "50" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Glu406Lys)" "" "0000556984" "00009860" "30" "1008" "0" "1008" "0" "c.1008A>G" "r.(?)" "p.(Lys336=)" "" "0000556985" "00009860" "30" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Arg280Gln)" "" "0000556986" "00009860" "30" "836" "0" "836" "0" "c.836G>C" "r.(?)" "p.(Arg279Pro)" "" "0000556987" "00009860" "70" "800" "0" "802" "0" "c.800_802del" "r.(?)" "p.(Glu267del)" "" "0000556988" "00009860" "30" "684" "0" "684" "0" "c.684C>T" "r.(?)" "p.(Ser228=)" "" "0000556989" "00009860" "30" "491" "7" "491" "7" "c.491+7G>A" "r.(=)" "p.(=)" "" "0000556990" "00009860" "50" "481" "0" "481" "0" "c.481C>A" "r.(?)" "p.(Pro161Thr)" "" "0000556991" "00009860" "30" "369" "649" "369" "649" "c.369+649dup" "r.(=)" "p.(=)" "" "0000556992" "00009860" "30" "322" "0" "322" "0" "c.322G>A" "r.(?)" "p.(Val108Met)" "" "0000556993" "00009860" "30" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Arg60Lys)" "" "0000556994" "00009860" "30" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Val58Ile)" "" "0000556995" "00009860" "10" "-4" "0" "-4" "0" "c.-4C>T" "r.(?)" "p.(=)" "" "0000615713" "00009860" "30" "20886" "0" "20886" "0" "c.*16497A>G" "r.(=)" "p.(=)" "" "0000615715" "00009860" "30" "5512" "0" "5512" "0" "c.*1123C>A" "r.(=)" "p.(=)" "" "0000615716" "00009860" "30" "4352" "0" "4352" "0" "c.4352A>G" "r.(?)" "p.(Asp1451Gly)" "" "0000615717" "00009860" "90" "3916" "0" "3916" "0" "c.3916dup" "r.(?)" "p.(Ala1306GlyfsTer56)" "" "0000615719" "00009860" "30" "3639" "0" "3639" "0" "c.3639G>A" "r.(?)" "p.(Thr1213=)" "" "0000615720" "00009860" "50" "3500" "0" "3500" "0" "c.3500C>T" "r.(?)" "p.(Thr1167Ile)" "" "0000615721" "00009860" "30" "3204" "0" "3204" "0" "c.3204C>T" "r.(?)" "p.(Ile1068=)" "" "0000615722" "00009860" "30" "3104" "0" "3104" "0" "c.3104G>A" "r.(?)" "p.(Arg1035Gln)" "" "0000615723" "00009860" "30" "3104" "0" "3104" "0" "c.3104G>A" "r.(?)" "p.(Arg1035Gln)" "" "0000615724" "00009860" "30" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Ser)" "" "0000615725" "00009860" "10" "2550" "0" "2550" "0" "c.2550C>T" "r.(?)" "p.(Ala850=)" "" "0000615754" "00009860" "30" "2100" "0" "2100" "0" "c.2100C>T" "r.(?)" "p.(Ser700=)" "" "0000615755" "00009860" "30" "1788" "0" "1788" "0" "c.1788T>C" "r.(?)" "p.(Asp596=)" "" "0000615799" "00009860" "10" "1524" "14" "1524" "14" "c.1524+14C>G" "r.(=)" "p.(=)" "" "0000615802" "00009860" "30" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Ile446Val)" "" "0000615803" "00009860" "30" "1284" "0" "1284" "0" "c.1284T>C" "r.(?)" "p.(Asn428=)" "" "0000615804" "00009860" "30" "1083" "0" "1083" "0" "c.1083C>T" "r.(?)" "p.(Pro361=)" "" "0000615805" "00009860" "50" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Leu195Pro)" "" "0000615806" "00009860" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Thr141=)" "" "0000615807" "00009860" "50" "388" "0" "388" "0" "c.388T>C" "r.(?)" "p.(Trp130Arg)" "" "0000623383" "00009860" "50" "1807" "0" "1807" "0" "c.1807G>A" "r.(?)" "p.(Asp603Asn)" "" "0000649232" "00009860" "30" "3743" "0" "3743" "0" "c.3743T>C" "r.(?)" "p.(Ile1248Thr)" "" "0000649233" "00009860" "10" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Ala1070Val)" "" "0000649241" "00009860" "10" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621Gln)" "" "0000649252" "00009860" "30" "1083" "0" "1083" "0" "c.1083C>T" "r.(=)" "p.(=)" "" "0000657739" "00009860" "50" "3421" "0" "3421" "0" "c.3421A>G" "r.(?)" "p.(Arg1141Gly)" "" "0000657740" "00009860" "50" "2577" "5" "2577" "5" "c.2577+5G>A" "r.spl?" "p.?" "" "0000657751" "00009860" "50" "2090" "0" "2090" "0" "c.2090T>C" "r.(?)" "p.(Phe697Ser)" "" "0000657757" "00009860" "30" "-221" "-5" "-221" "-5" "c.-221-5T>C" "r.spl?" "p.?" "" "0000663668" "00009860" "90" "4196" "0" "4196" "0" "c.4196T>C" "r.(?)" "p.(Leu1399Pro)" "" "0000663669" "00009860" "90" "3826" "0" "3826" "0" "c.3826G>A" "r.(?)" "p.(Gly1276Arg)" "" "0000663670" "00009860" "90" "650" "0" "651" "0" "c.650_651del" "r.(?)" "p.(Val217Glyfs*2)" "" "0000663671" "00009860" "90" "2611" "0" "2611" "0" "c.2611C>T" "r.(?)" "p.(Arg871Cys)" "" "0000663672" "00009860" "90" "1252" "0" "1252" "0" "c.1252G>C" "r.(?)" "p.(Ala418Pro)" "" "0000663673" "00009860" "90" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Thr484Met)" "" "0000663674" "00009860" "90" "2368" "0" "2368" "0" "c.2368G>A" "r.(?)" "p.(Glu790Lys)" "" "0000663675" "00009860" "90" "1898" "0" "1901" "0" "c.1898_1901del" "r.(?)" "p.(Asn633Argfs*10)" "" "0000663676" "00009860" "90" "1989" "0" "1989" "0" "c.1989C>G" "r.(?)" "p.(Cys663Trp)" "" "0000663677" "00009860" "90" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Pro71Leu)" "" "0000663678" "00009860" "90" "1377" "0" "1377" "0" "c.1377G>A" "r.(?)" "p.(Trp459*)" "" "0000663679" "00009860" "90" "2921" "0" "2921" "0" "c.2921C>T" "r.(?)" "p.(Ala974Val)" "" "0000663680" "00009860" "90" "985" "0" "985" "0" "c.985T>C" "r.(?)" "p.(Cys329Arg)" "" "0000663681" "00009860" "90" "1655" "0" "1656" "0" "c.1655_1656del" "r.(?)" "p.(Glu552Glyfs*6)" "" "0000663683" "00009860" "90" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Thr484Met)" "" "0000663684" "00009860" "90" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Thr484Met)" "" "0000663685" "00009860" "90" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Thr484Met)" "" "0000663686" "00009860" "90" "2399" "1" "2399" "1" "c.2399+1G>T" "r.spl" "p.?" "" "0000663687" "00009860" "90" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "" "0000663688" "00009860" "90" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "" "0000663689" "00009860" "90" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "" "0000663690" "00009860" "90" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Ala341Thr)" "" "0000663691" "00009860" "90" "2815" "0" "2815" "0" "c.2815T>C" "r.(?)" "p.(Ser939Pro)" "" "0000663692" "00009860" "90" "1422" "0" "1423" "0" "c.1422_1423insAA" "r.(?)" "p.(Arg475Asnfs*14)" "" "0000669312" "00009860" "10" "3209" "0" "3209" "0" "c.3209C>T" "r.(?)" "p.(Ala1070Val)" "" "0000669315" "00009860" "10" "1862" "0" "1862" "0" "c.1862G>A" "r.(?)" "p.(Arg621Gln)" "" "0000680392" "00009860" "30" "4278" "0" "4278" "0" "c.4278G>A" "r.(?)" "p.(Gly1426=)" "" "0000680393" "00009860" "50" "3104" "0" "3104" "0" "c.3104G>A" "r.(?)" "p.(Arg1035Gln)" "" "0000680411" "00009860" "50" "2372" "0" "2372" "0" "c.2372C>G" "r.(?)" "p.(Ala791Gly)" "" "0000680414" "00009860" "30" "1682" "0" "1682" "0" "c.1682G>A" "r.(?)" "p.(Ser561Asn)" "" "0000680423" "00009860" "50" "1509" "0" "1509" "0" "c.1509A>G" "r.(?)" "p.(Gln503=)" "" "0000680424" "00009860" "50" "1498" "0" "1498" "0" "c.1498A>G" "r.(?)" "p.(Asn500Asp)" "" "0000680428" "00009860" "30" "1352" "0" "1352" "0" "c.1352C>T" "r.(?)" "p.(Ala451Val)" "" "0000680429" "00009860" "30" "1200" "0" "1200" "0" "c.1200C>T" "r.(?)" "p.(Ser400=)" "" "0000680430" "00009860" "30" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Arg280Trp)" "" "0000680431" "00009860" "50" "683" "0" "683" "0" "c.683C>G" "r.(?)" "p.(Ser228Cys)" "" "0000683407" "00009860" "50" "3955" "0" "3960" "0" "c.3955_3960del" "r.(?)" "p.(Ala1319_Lys1320del)" "" "0000685250" "00009860" "90" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Cys482Tyr)" "" "0000691940" "00009860" "50" "3538" "0" "3538" "0" "c.3538T>C" "r.(?)" "p.(Ser1180Pro)" "" "0000691941" "00009860" "30" "2997" "8" "2997" "8" "c.2997+8C>G" "r.(=)" "p.(=)" "" "0000691953" "00009860" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Asp539=)" "" "0000691955" "00009860" "30" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Arg253Gln)" "" "0000710230" "00009860" "90" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Thr484Met)" "" "0000710254" "00009860" "90" "4252" "0" "4252" "0" "c.4252C>T" "r.(?)" "p.(Gln1418*)" "" "0000710285" "00009860" "50" "3193" "0" "3193" "0" "c.3193G>A" "r.(?)" "p.(Glu1065Lys)" "" "0000710319" "00009860" "90" "386" "0" "386" "0" "c.386T>G" "r.(?)" "p.(Leu129Trp)" "" "0000710337" "00009860" "90" "2786" "0" "2786" "0" "c.2786del" "r.(?)" "p.(Thr929Serfs*21)" "" "0000710340" "00009860" "50" "3502" "0" "3502" "0" "c.3502G>A" "r.(?)" "p.(Glu1168Lys)" "" "0000710354" "00009860" "50" "2067" "5" "2067" "5" "c.2067+5G>A" "r.spl" "p.?" "" "0000710363" "00009860" "90" "1377" "0" "1377" "0" "c.1377G>A" "r.(?)" "p.(Trp459*)" "" "0000713636" "00009860" "90" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "" "0000725452" "00009860" "30" "19987" "0" "19987" "0" "c.*15598G>T" "r.(=)" "p.(=)" "" "0000725453" "00009860" "30" "19987" "0" "19987" "0" "c.*15598G>T" "r.(=)" "p.(=)" "" "0000725454" "00009860" "50" "19808" "0" "19808" "0" "c.*15419T>A" "r.(=)" "p.(=)" "" "0000725455" "00009860" "30" "9819" "0" "9819" "0" "c.*5430G>A" "r.(=)" "p.(=)" "" "0000725456" "00009860" "30" "3426" "0" "3426" "0" "c.3426G>A" "r.(?)" "p.(Ala1142=)" "" "0000725457" "00009860" "50" "3389" "0" "3389" "0" "c.3389C>G" "r.(?)" "p.(Ser1130Cys)" "" "0000725458" "00009860" "50" "3359" "0" "3359" "0" "c.3359C>T" "r.(?)" "p.(Thr1120Met)" "" "0000725459" "00009860" "70" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072*)" "" "0000725460" "00009860" "30" "2583" "0" "2583" "0" "c.2583C>T" "r.(?)" "p.(Asp861=)" "" "0000725476" "00009860" "30" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Val611Ile)" "" "0000725479" "00009860" "30" "1542" "0" "1542" "0" "c.1542C>A" "r.(?)" "p.(Leu514=)" "" "0000725480" "00009860" "30" "1541" "0" "1541" "0" "c.1541T>A" "r.(?)" "p.(Leu514His)" "" "0000725488" "00009860" "70" "1056" "0" "1056" "0" "c.1056del" "r.(?)" "p.(Val354Tyrfs*42)" "" "0000725489" "00009860" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347*)" "" "0000725490" "00009860" "50" "1021" "0" "1021" "0" "c.1021G>A" "r.(?)" "p.(Ala341Thr)" "" "0000725491" "00009860" "30" "387" "0" "387" "0" "c.387G>A" "r.(?)" "p.(Leu129=)" "" "0000729991" "00009860" "90" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "" "0000729992" "00009860" "90" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "" "0000730104" "00009860" "90" "1525" "-1" "1525" "-1" "c.1525-1G>A" "r.spl?" "p.?" "" "0000733071" "00009860" "70" "2432" "0" "2432" "0" "c.2432G>T" "r.(?)" "p.(Cys811Phe)" "" "0000733140" "00009860" "70" "2611" "0" "2611" "0" "c.2611C>T" "r.(?)" "p.(Arg871Cys)" "" "0000733332" "00009860" "70" "4041" "-2" "4041" "-2" "c.4041-2A>G" "r.spl" "p.?" "" "0000733535" "00009860" "70" "2483" "0" "2483" "0" "c.2483del" "r.(?)" "p.(Gly828Alafs*18)" "" "0000733588" "00009860" "70" "3060" "0" "3060" "0" "c.3060C>G" "r.(?)" "p.(Tyr1020*)" "" "0000733714" "00009860" "70" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Arg)" "" "0000734381" "00009860" "50" "3788" "0" "3788" "0" "c.3788C>T" "r.(?)" "p.(Pro1263Leu)" "" "0000734404" "00009860" "50" "1727" "0" "1727" "0" "c.1727G>T" "r.(?)" "p.(Arg576Leu)" "" "0000736838" "00009860" "50" "3955" "0" "3960" "0" "c.3955_3960del" "r.(?)" "p.(Ala1319_Lys1320del)" "" "0000759855" "00009860" "70" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Pro648Ser)" "" "0000759883" "00009860" "70" "535" "0" "535" "0" "c.535A>T" "r.(?)" "p.(Lys179Ter)" "" "0000760715" "00009860" "70" "2401" "0" "2408" "0" "c.2401_2408del" "r.(?)" "p.(Glu801Leufs*35)" "" "0000764906" "00009860" "70" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000764933" "00009860" "70" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "" "0000765657" "00009860" "90" "3827" "0" "3827" "0" "c.3827G>A" "r.(?)" "p.(Gly1276Glu)" "28" "0000788429" "00009860" "50" "2786" "0" "2786" "0" "c.2786C>T" "r.(?)" "p.(Thr929Met)" "22" "0000793905" "00009860" "90" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Arg)" "6" "0000793906" "00009860" "70" "1390" "0" "1390" "0" "c.1390G>T" "r.(?)" "p.(Val464Leu)" "12" "0000794739" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "" "0000794750" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "" "0000807074" "00009860" "30" "4209" "0" "4209" "0" "c.4209G>T" "r.(?)" "p.(Arg1403=)" "" "0000807075" "00009860" "30" "4125" "0" "4125" "0" "c.4125C>T" "r.(?)" "p.(Ile1375=)" "" "0000807076" "00009860" "30" "3993" "0" "3993" "0" "c.3993G>C" "r.(?)" "p.(Gln1331His)" "" "0000807077" "00009860" "10" "3988" "0" "3988" "0" "c.3988G>A" "r.(?)" "p.(Ala1330Thr)" "" "0000807078" "00009860" "50" "3955" "0" "3960" "0" "c.3955_3960del" "r.(?)" "p.(Ala1319_Lys1320del)" "" "0000807079" "00009860" "30" "2988" "0" "2988" "0" "c.2988T>C" "r.(?)" "p.(Asn996=)" "" "0000807080" "00009860" "30" "2724" "0" "2724" "0" "c.2724C>T" "r.(?)" "p.(Ala908=)" "" "0000807116" "00009860" "30" "1134" "0" "1134" "0" "c.1134A>G" "r.(?)" "p.(Gln378=)" "" "0000807117" "00009860" "90" "1009" "1" "1009" "1" "c.1009+1G>C" "r.spl?" "p.?" "" "0000807118" "00009860" "50" "128" "0" "128" "0" "c.128T>C" "r.(?)" "p.(Val43Ala)" "" "0000811931" "00009860" "70" "2712" "0" "2712" "0" "c.2712C>G" "r.(?)" "p.(Tyr904*)" "" "0000811932" "00009860" "70" "386" "0" "386" "0" "c.386T>G" "r.(?)" "p.(Leu129Trp)" "" "0000812282" "00009860" "70" "1973" "0" "1973" "0" "c.1973C>T" "r.(?)" "p.(Pro658Leu)" "17" "0000812283" "00009860" "70" "2948" "0" "2948" "0" "c.2948del" "r.(?)" "p.(Asp983Alafs*21)" "23" "0000813725" "00009860" "70" "2611" "0" "2611" "0" "c.2611C>T" "r.(?)" "p.(Arg871Cys)" "" "0000813786" "00009860" "90" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347*)" "" "0000813892" "00009860" "70" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "" "0000814267" "00009860" "70" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Cys)" "20" "0000814295" "00009860" "70" "3988" "0" "3988" "0" "c.3988G>A" "r.(?)" "p.(Ala1330Thr)" "29" "0000816015" "00009860" "90" "2399" "1" "2399" "1" "c.2399+1G>T" "r.spl" "p.(?)" "" "0000816130" "00009860" "90" "2399" "1" "2399" "1" "c.2399+1G>T" "r.spl" "p.(?)" "" "0000816187" "00009860" "50" "1133" "0" "1133" "0" "c.1133A>G" "r.(?)" "p.(Gln378Arg)" "" "0000816201" "00009860" "90" "2577" "2" "2577" "2" "c.2577+2T>G" "r.spl" "p.(?)" "" "0000816251" "00009860" "50" "2577" "2" "2577" "2" "c.2577+2T>G" "r.spl" "p.(?)" "" "0000816268" "00009860" "50" "2577" "2" "2577" "2" "c.2577+2T>G" "r.spl" "p.(?)" "" "0000816288" "00009860" "50" "2577" "2" "2577" "2" "c.2577+2T>G" "r.spl" "p.(?)" "" "0000816356" "00009860" "50" "3525" "0" "3525" "0" "c.3525C>G" "r.(?)" "p.(Thr1175=)" "" "0000816357" "00009860" "70" "634" "5" "634" "5" "c.634+5G>A" "r.spl?" "p.(?)" "" "0000816358" "00009860" "70" "902" "87" "902" "87" "c.902+87T>C" "r.spl?" "p.(?)" "" "0000816379" "00009860" "50" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Thr434Met)" "" "0000816380" "00009860" "50" "3130" "0" "3130" "0" "c.3130C>T" "r.(?)" "p.(Arg1044Cys)" "" "0000816445" "00009860" "50" "2896" "0" "2896" "0" "c.2896G>A" "r.(?)" "p.(Glu966Lys)" "" "0000816491" "00009860" "50" "3026" "0" "3026" "0" "c.3026A>C" "r.(?)" "p.(Asn1009Thr)" "" "0000816501" "00009860" "50" "2138" "0" "2138" "0" "c.2138G>A" "r.(?)" "p.(Arg713Gln)" "" "0000816539" "00009860" "50" "0" "0" "0" "0" "c.?" "r.spl" "p.(?)" "" "0000817470" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817471" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817472" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817473" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817474" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817475" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817476" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817477" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817478" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817479" "00009860" "70" "1541" "0" "1542" "0" "c.1541_1542delinsAA" "r.(?)" "p.(Leu514Gln)" "14" "0000817482" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000817483" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000818811" "00009860" "90" "1010" "-1" "1010" "-1" "c.1010-1G>A" "r.spl?" "p.?" "9i" "0000818812" "00009860" "90" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Arg)" "6" "0000818813" "00009860" "90" "3916" "0" "3916" "0" "c.3916dup" "r.(?)" "p.(Ala1306Glyfs*56)" "29" "0000818814" "00009860" "90" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(His24Tyr)" "3" "0000818815" "00009860" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "8" "0000819046" "00009860" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "" "0000819049" "00009860" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "" "0000819885" "00009860" "70" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000819886" "00009860" "70" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000820534" "00009860" "70" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000820748" "00009860" "70" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "" "0000820749" "00009860" "70" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "" "0000820960" "00009860" "70" "3142" "-1" "3873" "1" "c.(3141+1_3142-1)_(3873+1_3874-1)dup" "r.spl" "p.(?)" "" "0000821273" "00009860" "70" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Cys333Tyr)" "" "0000827283" "00009860" "50" "142" "0" "142" "0" "c.142G>A" "r.(?)" "p.(Glu48Lys)" "3" "0000828486" "00009860" "70" "3955" "0" "3960" "0" "c.3955_3960del" "r.(?)" "p.(Ala1319_Lys1320del)" "" "0000828508" "00009860" "50" "3686" "0" "3686" "0" "c.3686G>T" "r.(?)" "p.(Gly1229Val)" "" "0000828509" "00009860" "50" "3661" "-9" "3661" "-9" "c.3661-9T>G" "r.spl" "p.(?)" "" "0000828758" "00009860" "50" "1375" "0" "1375" "0" "c.1375T>G" "r.(?)" "p.(Trp459Gly)" "" "0000828963" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "" "0000829960" "00009860" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Cys)" "20" "0000829961" "00009860" "50" "3018" "0" "3019" "0" "c.3018_3019del" "r.(?)" "p.(Glu1006Aspfs*113)" "24" "0000830152" "00009860" "70" "1901" "0" "1901" "0" "c.1901del" "r.(?)" "p.(Lys634ArgfsTer10)" "" "0000834084" "00009860" "70" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Arg)" "6" "0000834144" "00009860" "50" "356" "0" "356" "0" "c.356T>C" "r.(?)" "p.(Leu119Pro)" "4" "0000845390" "00009860" "90" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Arg)" "6" "0000845391" "00009860" "90" "992" "0" "993" "0" "c.992_993dup" "r.(?)" "p.(Tyr332Valfs*18)" "9" "0000845392" "00009860" "90" "2767" "0" "2767" "0" "c.2767T>G" "r.(?)" "p.(Tyr923Asp)" "21" "0000854283" "00009860" "50" "4214" "0" "4216" "0" "c.4214_4216dup" "r.(?)" "p.(Arg1405dup)" "" "0000854284" "00009860" "50" "3542" "0" "3542" "0" "c.3542C>T" "r.(?)" "p.(Ser1181Leu)" "" "0000854285" "00009860" "50" "2716" "0" "2716" "0" "c.2716C>T" "r.(?)" "p.(Arg906Cys)" "" "0000854297" "00009860" "30" "1653" "-4" "1653" "-4" "c.1653-4G>A" "r.spl?" "p.?" "" "0000854303" "00009860" "90" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505*)" "" "0000854304" "00009860" "30" "1191" "0" "1191" "0" "c.1191C>A" "r.(?)" "p.(Ser397Arg)" "" "0000854305" "00009860" "50" "1160" "0" "1160" "0" "c.1160G>A" "r.(?)" "p.(Gly387Asp)" "" "0000854306" "00009860" "50" "728" "0" "728" "0" "c.728A>G" "r.(?)" "p.(Glu243Gly)" "" "0000864308" "00009860" "30" "4159" "0" "4159" "0" "c.4159G>A" "r.(?)" "p.(Val1387Met)" "" "0000864309" "00009860" "30" "3993" "0" "3993" "0" "c.3993G>C" "r.(?)" "p.(Gln1331His)" "" "0000864310" "00009860" "30" "3743" "0" "3743" "0" "c.3743T>C" "r.(?)" "p.(Ile1248Thr)" "" "0000864311" "00009860" "50" "3338" "0" "3338" "0" "c.3338T>C" "r.(?)" "p.(Ile1113Thr)" "" "0000864312" "00009860" "90" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072*)" "" "0000864313" "00009860" "50" "2997" "2" "2997" "2" "c.2997+2T>C" "r.spl?" "p.?" "" "0000864314" "00009860" "30" "2561" "0" "2561" "0" "c.2561C>T" "r.(?)" "p.(Thr854Met)" "" "0000864329" "00009860" "90" "2399" "1" "2399" "1" "c.2399+1G>T" "r.spl?" "p.?" "" "0000864337" "00009860" "90" "1451" "0" "1451" "0" "c.1451C>T" "r.(?)" "p.(Thr484Met)" "" "0000864339" "00009860" "30" "1359" "20" "1359" "20" "c.1359+20G>A" "r.(=)" "p.(=)" "" "0000864341" "00009860" "30" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Arg253Gln)" "" "0000864342" "00009860" "30" "490" "0" "490" "0" "c.490G>A" "r.(?)" "p.(Glu164Lys)" "" "0000864343" "00009860" "30" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Ala65Val)" "" "0000873458" "00009860" "70" "1219" "0" "1219" "0" "c.1219C>T" "r.(?)" "p.(Arg407Trp)" "" "0000873459" "00009860" "70" "2446" "0" "2446" "0" "c.2446C>T" "r.(?)" "p.(Arg816Trp)" "" "0000892542" "00009860" "50" "4058" "0" "4058" "0" "c.4058C>G" "r.(?)" "p.(Pro1353Arg)" "" "0000892543" "00009860" "10" "3684" "0" "3684" "0" "c.3684C>T" "r.(?)" "p.(Ser1228=)" "" "0000892544" "00009860" "90" "2987" "0" "2987" "0" "c.2987del" "r.(?)" "p.(Asn996Metfs*8)" "" "0000892545" "00009860" "30" "2651" "0" "2651" "0" "c.2651G>A" "r.(?)" "p.(Arg884Gln)" "" "0000892546" "00009860" "30" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Ser)" "" "0000892547" "00009860" "10" "2550" "0" "2550" "0" "c.2550C>T" "r.(?)" "p.(Ala850=)" "" "0000892567" "00009860" "90" "2399" "1" "2399" "1" "c.2399+1G>T" "r.spl?" "p.?" "" "0000892568" "00009860" "30" "2247" "0" "2247" "0" "c.2247C>T" "r.(?)" "p.(His749=)" "" "0000892571" "00009860" "50" "2067" "5" "2067" "5" "c.2067+5G>A" "r.spl?" "p.?" "" "0000892572" "00009860" "30" "1933" "0" "1933" "0" "c.1933A>G" "r.(?)" "p.(Asn645Asp)" "" "0000892573" "00009860" "70" "1909" "0" "1909" "0" "c.1909del" "r.(?)" "p.(Leu637Serfs*7)" "" "0000892574" "00009860" "30" "1824" "0" "1824" "0" "c.1824A>G" "r.(?)" "p.(Thr608=)" "" "0000892583" "00009860" "50" "1514" "0" "1514" "0" "c.1514G>A" "r.(?)" "p.(Arg505Gln)" "" "0000892585" "00009860" "50" "937" "0" "937" "0" "c.937C>G" "r.(?)" "p.(Leu313Val)" "" "0000892586" "00009860" "70" "634" "5" "634" "5" "c.634+5G>A" "r.spl?" "p.?" "" "0000892587" "00009860" "70" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Arg)" "" "0000892588" "00009860" "30" "313" "0" "313" "0" "c.313G>A" "r.(?)" "p.(Asp105Asn)" "" "0000896458" "00009860" "50" "1375" "0" "1375" "0" "c.1375T>G" "r.(?)" "p.(Trp459Gly)" "" "0000896459" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "" "0000914468" "00009860" "30" "4297" "0" "4297" "0" "c.4297C>T" "r.(?)" "p.(Arg1433Cys)" "" "0000914469" "00009860" "30" "3693" "0" "3693" "0" "c.3693G>A" "r.(?)" "p.(Thr1231=)" "" "0000914470" "00009860" "50" "3157" "0" "3157" "0" "c.3157G>A" "r.(?)" "p.(Asp1053Asn)" "" "0000914471" "00009860" "30" "3104" "0" "3104" "0" "c.3104G>A" "r.(?)" "p.(Arg1035Gln)" "" "0000914472" "00009860" "50" "2528" "0" "2528" "0" "c.2528C>T" "r.(?)" "p.(Pro843Leu)" "" "0000914483" "00009860" "90" "1655" "0" "1656" "0" "c.1655_1656del" "r.(?)" "p.(Glu552Glyfs*6)" "" "0000914492" "00009860" "30" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Ile446Val)" "" "0000914493" "00009860" "30" "1336" "0" "1336" "0" "c.1336A>G" "r.(?)" "p.(Ile446Val)" "" "0000916145" "00009860" "50" "2458" "0" "2458" "0" "c.2458G>A" "r.(?)" "p.(Ala820Thr)" "20" "0000916645" "00009860" "70" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "17" "0000921488" "00009860" "70" "4297" "0" "4297" "0" "c.4297C>T" "r.(?)" "p.(Arg1433Cys)" "" "0000926132" "00009860" "30" "3642" "0" "3642" "0" "c.3642G>A" "r.(?)" "p.(Gln1214=)" "" "0000926133" "00009860" "90" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072*)" "" "0000926134" "00009860" "30" "2661" "0" "2661" "0" "c.2661G>T" "r.(?)" "p.(Glu887Asp)" "" "0000926135" "00009860" "50" "2446" "0" "2446" "0" "c.2446C>T" "r.(?)" "p.(Arg816Trp)" "" "0000926148" "00009860" "30" "2199" "19" "2199" "19" "c.2199+19C>T" "r.(=)" "p.(=)" "" "0000926149" "00009860" "30" "1831" "0" "1831" "0" "c.1831G>A" "r.(?)" "p.(Val611Ile)" "" "0000926150" "00009860" "90" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "" "0000926152" "00009860" "30" "1417" "0" "1417" "0" "c.1417G>A" "r.(?)" "p.(Ala473Thr)" "" "0000926153" "00009860" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(Val436=)" "" "0000926154" "00009860" "50" "1009" "1" "1009" "1" "c.1009+1G>T" "r.spl?" "p.?" "" "0000930505" "00009860" "30" "3993" "0" "3993" "0" "c.3993G>C" "r.(?)" "p.(Gln1331His)" "" "0000930511" "00009860" "10" "2330" "0" "2330" "0" "c.2330T>G" "r.(?)" "p.(Leu777Arg)" "" "0000930512" "00009860" "90" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Gln655*)" "" "0000930513" "00009860" "90" "1377" "0" "1377" "0" "c.1377G>A" "r.(?)" "p.(Trp459*)" "" "0000950511" "00009860" "70" "14889" "0" "14889" "0" "c.*10500C>A" "r.(=)" "p.(=)" "" "0000950512" "00009860" "70" "7728" "0" "7728" "0" "c.*3339C>T" "r.(=)" "p.(=)" "" "0000950513" "00009860" "30" "3639" "0" "3639" "0" "c.3639G>A" "r.(?)" "p.(Thr1213=)" "" "0000950526" "00009860" "30" "1788" "0" "1788" "0" "c.1788T>C" "r.(?)" "p.(Asp596=)" "" "0000958409" "00009860" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Leu152Phe)" "" "0000958447" "00009860" "70" "3577" "0" "3577" "0" "c.3577G>T" "r.(?)" "p.(Glu1193Ter)" "" "0000958535" "00009860" "70" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "" "0000958687" "00009860" "70" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "" "0000958927" "00009860" "50" "326" "0" "326" "0" "c.326T>C" "r.(?)" "p.(Leu109Pro)" "" "0000958934" "00009860" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000958946" "00009860" "70" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "" "0000959104" "00009860" "70" "2611" "0" "2611" "0" "c.2611C>T" "r.(?)" "p.(Arg871Cys)" "" "0000959367" "00009860" "50" "634" "5" "634" "5" "c.634+5G>A" "r.spl?" "p.?" "" "0000959372" "00009860" "50" "634" "5" "634" "5" "c.634+5G>A" "r.spl?" "p.?" "" "0000959385" "00009860" "50" "212" "0" "212" "0" "c.212C>T" "r.(?)" "p.(Pro71Leu)" "" "0000959472" "00009860" "90" "2399" "1" "2399" "1" "c.2399+1G>T" "r.spl" "p.?" "" "0000968135" "00009860" "70" "634" "0" "634" "0" "c.634G>A" "r.(?)" "p.(Gly212Arg)" "" "0000972394" "00009860" "90" "1795" "0" "1795" "0" "c.1795dup" "r.(?)" "p.(Ile599AsnfsTer7)" "" "0000972395" "00009860" "90" "2500" "0" "2500" "0" "c.2500C>T" "r.(?)" "p.(Arg834Ter)" "" "0000972400" "00009860" "90" "2068" "-2" "2068" "-2" "c.2068-2A>G" "r.spl" "p.?" "" "0000981613" "00009860" "30" "13553" "0" "13553" "0" "c.*9164C>T" "r.(=)" "p.(=)" "" "0000981614" "00009860" "50" "4381" "0" "4381" "0" "c.4381G>A" "r.(?)" "p.(Asp1461Asn)" "" "0000981615" "00009860" "30" "4182" "365" "4182" "365" "c.4182+365G>A" "r.(=)" "p.(=)" "" "0000981616" "00009860" "50" "3141" "0" "3141" "0" "c.3141G>A" "r.(?)" "p.(=)" "" "0000981617" "00009860" "50" "3043" "0" "3043" "0" "c.3043C>A" "r.(?)" "p.(His1015Asn)" "" "0000981618" "00009860" "70" "2987" "0" "2987" "0" "c.2987del" "r.(?)" "p.(Asn996Metfs*8)" "" "0000981619" "00009860" "50" "2773" "0" "2773" "0" "c.2773G>A" "r.(?)" "p.(Glu925Lys)" "" "0000981644" "00009860" "50" "2360" "0" "2360" "0" "c.2360A>G" "r.(?)" "p.(Asp787Gly)" "" "0000981645" "00009860" "50" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Arg773Trp)" "" "0000981647" "00009860" "50" "1539" "0" "1539" "0" "c.1539A>C" "r.(?)" "p.(Gln513His)" "" "0000981659" "00009860" "70" "1422" "0" "1423" "0" "c.1422_1423insAA" "r.(?)" "p.(Arg475Asnfs*14)" "" "0000981660" "00009860" "50" "1304" "0" "1304" "0" "c.1304G>A" "r.(?)" "p.(Gly435Glu)" "" "0000981661" "00009860" "50" "227" "0" "227" "0" "c.227T>C" "r.(?)" "p.(Leu76Pro)" "" "0001001906" "00009860" "50" "19811" "0" "19811" "0" "c.*15422A>T" "r.(=)" "p.(=)" "" "0001001907" "00009860" "50" "4345" "0" "4345" "0" "c.4345G>A" "r.(?)" "p.(Glu1449Lys)" "" "0001001908" "00009860" "30" "4040" "11" "4040" "11" "c.4040+11G>A" "r.(=)" "p.(=)" "" "0001001909" "00009860" "30" "4040" "10" "4040" "10" "c.4040+10C>T" "r.(=)" "p.(=)" "" "0001001910" "00009860" "50" "3980" "0" "3980" "0" "c.3980C>A" "r.(?)" "p.(Thr1327Asn)" "" "0001001911" "00009860" "50" "3359" "0" "3359" "0" "c.3359C>T" "r.(?)" "p.(Thr1120Met)" "" "0001001943" "00009860" "50" "1975" "0" "1975" "0" "c.1975C>T" "r.(?)" "p.(Arg659Trp)" "" "0001001944" "00009860" "90" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Gln655*)" "" "0001001973" "00009860" "70" "1009" "1" "1009" "1" "c.1009+1G>C" "r.spl?" "p.?" "" "0001001974" "00009860" "30" "850" "0" "850" "0" "c.850G>A" "r.(?)" "p.(Ala284Thr)" "" "0001001975" "00009860" "30" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137Gln)" "" "0001015292" "00009860" "10" "4380" "0" "4380" "0" "c.4380C>T" "r.(?)" "p.(=)" "" "0001015293" "00009860" "30" "3990" "0" "3990" "0" "c.3990G>A" "r.(?)" "p.(=)" "" "0001015294" "00009860" "50" "2786" "0" "2786" "0" "c.2786C>T" "r.(?)" "p.(Thr929Met)" "" "0001015295" "00009860" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Cys)" "" "0001015296" "00009860" "30" "2454" "0" "2454" "0" "c.2454C>T" "r.(?)" "p.(=)" "" "0001015304" "00009860" "50" "1726" "0" "1726" "0" "c.1726C>T" "r.(?)" "p.(Arg576Trp)" "" "0001015307" "00009860" "10" "492" "-14" "492" "-14" "c.492-14G>A" "r.(=)" "p.(=)" "" "0001015308" "00009860" "30" "492" "-20" "492" "-20" "c.492-20C>T" "r.(=)" "p.(=)" "" "0001026565" "00009860" "30" "3693" "0" "3693" "0" "c.3693G>A" "r.(?)" "p.(Thr1231=)" "" "0001026577" "00009860" "30" "1788" "0" "1788" "0" "c.1788T>C" "r.(?)" "p.(Asp596=)" "" "0001027772" "00009860" "70" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "" "0001027798" "00009860" "90" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Gly522Glu)" "" "0001027799" "00009860" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "" "0001030946" "00009860" "90" "874" "0" "874" "0" "c.874G>A" "r.(?)" "p.(Val292Met)" "" "0001040789" "00009860" "50" "21063" "0" "21063" "0" "c.*16674G>T" "r.(=)" "p.(=)" "" "0001040790" "00009860" "50" "16023" "0" "16023" "0" "c.*11634G>A" "r.(=)" "p.(=)" "" "0001040791" "00009860" "50" "14960" "0" "14960" "0" "c.*10571C>T" "r.(=)" "p.(=)" "" "0001040792" "00009860" "50" "14860" "0" "14860" "0" "c.*10471G>A" "r.(=)" "p.(=)" "" "0001040793" "00009860" "50" "13910" "0" "13910" "0" "c.*9521C>T" "r.(=)" "p.(=)" "" "0001040794" "00009860" "50" "9058" "0" "9058" "0" "c.*4669C>T" "r.(=)" "p.(=)" "" "0001040795" "00009860" "70" "7962" "0" "7962" "0" "c.*3573C>T" "r.(=)" "p.(=)" "" "0001040796" "00009860" "30" "4182" "1108" "4182" "1108" "c.4182+1108G>A" "r.(=)" "p.(=)" "" "0001040797" "00009860" "30" "3988" "0" "3988" "0" "c.3988G>A" "r.(?)" "p.(Ala1330Thr)" "" "0001040798" "00009860" "70" "3981" "0" "3981" "0" "c.3981del" "r.(?)" "p.(Arg1328Glyfs*12)" "" "0001040799" "00009860" "50" "3647" "0" "3647" "0" "c.3647G>A" "r.(?)" "p.(Gly1216Asp)" "" "0001040800" "00009860" "50" "3325" "0" "3327" "0" "c.3325_3327dup" "r.(?)" "p.(Ala1109dup)" "" "0001040801" "00009860" "70" "3028" "0" "3028" "0" "c.3028del" "r.(?)" "p.(Leu1010Trpfs*47)" "" "0001040802" "00009860" "30" "3006" "0" "3006" "0" "c.3006A>G" "r.(?)" "p.(=)" "" "0001040803" "00009860" "30" "3002" "0" "3002" "0" "c.3002C>T" "r.(?)" "p.(Ala1001Val)" "" "0001040804" "00009860" "70" "2864" "1" "2864" "1" "c.2864+1G>A" "r.spl?" "p.?" "" "0001040805" "00009860" "70" "2767" "0" "2768" "2" "c.2767_2768+2del" "r.(?)" "p.(Ser922Thrfs*27)" "" "0001040807" "00009860" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Arg848Cys)" "" "0001040808" "00009860" "50" "2492" "0" "2492" "0" "c.2492G>A" "r.(?)" "p.(Arg831His)" "" "0001040809" "00009860" "50" "2426" "0" "2426" "0" "c.2426G>A" "r.(?)" "p.(Arg809His)" "" "0001040827" "00009860" "50" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Val662Ile)" "" "0001040828" "00009860" "50" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Ser549Phe)" "" "0001040829" "00009860" "50" "1542" "0" "1542" "0" "c.1542C>A" "r.(?)" "p.(Leu514=)" "" "0001040842" "00009860" "30" "1359" "9" "1359" "9" "c.1359+9C>T" "r.(=)" "p.(=)" "" "0001040843" "00009860" "50" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Asp367Asn)" "" "0001040844" "00009860" "50" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Arg347Gln)" "" "0001040845" "00009860" "90" "1010" "-1" "1010" "-1" "c.1010-1G>A" "r.spl?" "p.?" "" "0001040846" "00009860" "30" "811" "-18" "811" "-18" "c.811-18G>A" "r.(=)" "p.(=)" "" "0001040847" "00009860" "30" "633" "0" "633" "0" "c.633C>T" "r.(?)" "p.(=)" "" "0001040848" "00009860" "50" "584" "0" "584" "0" "c.584T>C" "r.(?)" "p.(Leu195Pro)" "" "0001040849" "00009860" "30" "194" "0" "194" "0" "c.194C>T" "r.(?)" "p.(Ala65Val)" "" "0001046534" "00009860" "90" "3214" "0" "3214" "0" "c.3214C>T" "r.(?)" "p.(Arg1072*)" "" "0001046536" "00009860" "50" "920" "0" "920" "0" "c.920G>A" "r.(?)" "p.(Arg307Gln)" "" "0001049834" "00009860" "70" "1487" "0" "1487" "0" "c.1487C>T" "r.(?)" "p.(Thr496Met)" "" "0001049839" "00009860" "70" "1250" "0" "1271" "0" "c.1250_1271dup" "r.spl" "p.(Ser425GlyfsTer66)" "" "0001055320" "00009860" "50" "8365" "0" "8365" "0" "c.*3976C>G" "r.(=)" "p.(=)" "" "0001055321" "00009860" "50" "8352" "0" "8354" "0" "c.*3963_*3965del" "r.(=)" "p.(=)" "" "0001055322" "00009860" "50" "3695" "0" "3695" "0" "c.3695A>C" "r.(?)" "p.(Glu1232Ala)" "" "0001055323" "00009860" "50" "3525" "0" "3525" "0" "c.3525C>G" "r.(?)" "p.(Thr1175=)" "" "0001055324" "00009860" "50" "2569" "0" "2569" "0" "c.2569G>C" "r.(?)" "p.(Gly857Arg)" "" "0001055325" "00009860" "30" "2330" "0" "2330" "0" "c.2330T>G" "r.(?)" "p.(Leu777Arg)" "" "0001055326" "00009860" "50" "2090" "0" "2090" "0" "c.2090T>C" "r.(?)" "p.(Phe697Ser)" "" "0001055327" "00009860" "30" "758" "0" "758" "0" "c.758G>A" "r.(?)" "p.(Arg253Gln)" "" "0001055328" "00009860" "50" "187" "0" "187" "0" "c.187C>T" "r.(?)" "p.(Arg63Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 227 "{{screeningid}}" "{{variantid}}" "0000108342" "0000174263" "0000108342" "0000174265" "0000108342" "0000174266" "0000108343" "0000174264" "0000108344" "0000174267" "0000108344" "0000174268" "0000108345" "0000174269" "0000108345" "0001027772" "0000108346" "0000174270" "0000108347" "0000174271" "0000108347" "0000174272" "0000165293" "0000368952" "0000234400" "0000477108" "0000234401" "0000477109" "0000234402" "0000477110" "0000234403" "0000477111" "0000234404" "0000477112" "0000234405" "0000477113" "0000234406" "0000477114" "0000234407" "0000477115" "0000234408" "0000477116" "0000234409" "0000477117" "0000234410" "0000477118" "0000234411" "0000477119" "0000234412" "0000477120" "0000234413" "0000477121" "0000234414" "0000477122" "0000234415" "0000477123" "0000234416" "0000477124" "0000234417" "0000477125" "0000234418" "0000477126" "0000234419" "0000477127" "0000234420" "0000477128" 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