### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC7A14) # 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}}" "SLC7A14" "solute carrier family 7 (orphan transporter), member 14" "3" "q26.2" "unknown" "NC_000003.11" "UD_136022573150" "" "https://www.LOVD.nl/SLC7A14" "" "1" "29326" "57709" "615720" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-06-25 15:26:20" "00000" "2024-02-26 20:06:56" ## 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}}" "00019070" "SLC7A14" "solute carrier family 7 (orphan transporter), member 14" "001" "NM_020949.2" "" "NP_066000.2" "" "" "" "-316" "9817" "2316" "170303863" "170177342" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "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" "04065" "RP68" "retinitis pigmentosa, type 68 (RP68)" "AR" "615725" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-06-25 15:26:44" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC7A14" "00112" "SLC7A14" "04065" ## Individuals ## Do not remove or alter this header ## ## Count = 51 "{{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}}" "00232464" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232465" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232466" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232467" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232468" "" "" "" "3" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232469" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232470" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232471" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232472" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232473" "" "" "" "24" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232474" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232475" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232476" "" "" "" "59" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232477" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232478" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232479" "" "" "" "4" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00232480" "" "" "" "2" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233661" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00233662" "" "" "" "1" "" "02591" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "analysis 1204 retinitis pigmentosa cases" "" "" "Japan" "" "0" "" "" "" "" "00293273" "" "" "" "10" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308701" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00376831" "" "" "" "1" "" "00000" "{PMID:Jin 2014:24670872}" "5-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "China" "" "0" "" "" "" "W60-1" "00376832" "" "" "" "1" "" "00000" "{PMID:Jin 2014:24670872}" "" "M" "" "China" "" "0" "" "" "" "F105-1" "00376833" "" "" "" "1" "" "00000" "{PMID:Jin 2014:24670872}" "" "F" "" "China" "" "0" "" "" "" "W41-1" "00376834" "" "" "" "1" "" "00000" "{PMID:Jin 2014:24670872}" "" "M" "" "China" "" "0" "" "" "" "W148-1" "00376835" "" "" "" "1" "" "00000" "{PMID:Jin 2014:24670872}" "" "F" "" "China" "" "0" "" "" "" "W201-1" "00383777" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18073541_A" "00383794" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184084_B" "00383811" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184155_B" "00383812" "" "" "" "1" "" "00000" "{PMID:Gao 2019:31054281}" "" "?" "" "China" "" "0" "" "" "" "RD18184157_B" "00386259" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-235, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-605" "00387382" "" "" "" "1" "" "00000" "{PMID:Sun 2020:32100970}" "" "F" "" "China" "" "0" "" "" "" "2" "00392571" "" "" "" "1" "" "00000" "{PMID:Ma 2021:33691693}" "" "?" "" "Korea" "" "0" "" "" "" "15" "00393679" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00393798" "" "" "" "1" "" "00000" "{PMID:Liu-2020:33090715}" "" "M" "" "" "" "0" "" "" "" "" "00413724" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00413725" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00413726" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "F" "" "Japan" "" "0" "" "" "Japanese" "" "00413727" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "M" "" "Japan" "" "0" "" "" "Japanese" "" "00413728" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413729" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413730" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413731" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413732" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413733" "" "" "" "13" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413734" "" "" "" "1" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413735" "" "" "" "23" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413736" "" "" "" "4" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413737" "" "" "" "3" "" "00000" "{PMID:Sugahara 2017:27028480}" "" "" "" "Japan" "" "0" "" "" "Japanese" "" "00413738" "" "" "" "1" "" "00000" "{PMID:Guo_2019:30924391}" "" "F" "" "China" "" "0" "" "" "Chinese" "" "00413739" "" "" "" "1" "" "00000" "{PMID:Guo_2019:30924391}" "" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00232464" "04214" "00232465" "04214" "00232466" "04214" "00232467" "04214" "00232468" "04214" "00232469" "04214" "00232470" "04214" "00232471" "04214" "00232472" "04214" "00232473" "04214" "00232474" "04214" "00232475" "04214" "00232476" "04214" "00232477" "04214" "00232478" "04214" "00232479" "04214" "00232480" "04214" "00233661" "04214" "00233662" "04214" "00293273" "00198" "00308701" "00000" "00376831" "04214" "00376832" "04214" "00376833" "04214" "00376834" "04214" "00376835" "04214" "00383777" "04214" "00383794" "04214" "00383811" "04214" "00383812" "04214" "00386259" "04214" "00387382" "04214" "00392571" "04214" "00393679" "04214" "00393798" "04214" "00413724" "04214" "00413725" "04214" "00413726" "04214" "00413727" "04214" "00413728" "04214" "00413729" "04214" "00413730" "04214" "00413731" "04214" "00413732" "04214" "00413733" "04214" "00413734" "04214" "00413735" "04214" "00413736" "04214" "00413737" "04214" "00413738" "04214" "00413739" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00112, 00198, 04065, 04214 ## Count = 30 "{{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}}" "0000272042" "04214" "00376831" "00000" "Familial, autosomal recessive" "35y" "see paper; ..." "10y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272043" "04214" "00376832" "00000" "Familial, autosomal recessive" "15y" "see paper; ..." "5y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272044" "04214" "00376833" "00000" "Familial, autosomal recessive" "53y" "see paper; ..." "18y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272045" "04214" "00376834" "00000" "Familial, autosomal recessive" "29y" "see paper; ..." "19y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272046" "04214" "00376835" "00000" "Familial, autosomal recessive" "42y" "see paper; ..." "20y" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000277562" "04214" "00383777" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277579" "04214" "00383794" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277596" "04214" "00383811" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000277597" "04214" "00383812" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000280062" "04214" "00386259" "00000" "Familial, autosomal recessive" "31y" "" "" "6y" "" "" "" "" "" "" "Leber congenital amaurosis" "" "" "0000280945" "04214" "00387382" "00000" "Familial, autosomal recessive" "55y" "posterior subcapsular cataract, peripheral choroidal atrophy, negative family history, BCVA OD/OS: 0.02/0.3" "4y" "" "" "" "" "" "" "" "Retinitis pigmentosa" "Retinitis pigmentosa" "" "0000285818" "04214" "00392571" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" "" "0000286885" "04214" "00393679" "00000" "Isolated (sporadic)" "23y" "" "" "" "" "" "" "" "" "" "" "Retinitis Pigmentosa (RP)" "" "0000287004" "04214" "00393798" "00000" "Isolated (sporadic)" "13y" "" "" "" "" "" "" "" "" "" "" "Cone-rod Dystrophy (CORD)" "" "0000305689" "04214" "00413724" "00000" "Unknown" "47y" "BCVA (OD/OS): 1.5/1.5" "37y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305690" "04214" "00413725" "00000" "Unknown" "20y" "BCVA (OD/OS): 0.2/0.4" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305691" "04214" "00413726" "00000" "Unknown" "71y" "BCVA (OD/OS): 0.8/0.6" "30y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305692" "04214" "00413727" "00000" "Unknown" "86y" "BCVA (OD/OS): 0.4/0.4" "40y" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305693" "04214" "00413728" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305694" "04214" "00413729" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305695" "04214" "00413730" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305696" "04214" "00413731" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305697" "04214" "00413732" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305698" "04214" "00413733" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305699" "04214" "00413734" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305700" "04214" "00413735" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305701" "04214" "00413736" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305702" "04214" "00413737" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305703" "04214" "00413738" "00000" "Isolated (sporadic)" "" "VA progressively decreased to 3/20 - 6/20; typical waxy pallor and intra-retinal bone spicule pigmentation" "" "" "night blindness that had first appeared during childhood" "" "" "" "" "" "" "retinitis pigmentosa (RP)" "" "0000305704" "04214" "00413739" "00000" "Isolated (sporadic)" "" "central macular pigment epithelial atrophy in both eyes and the degree of atrophy was lower in the right eye; mild macular atrophy, and a marked disruption of the foveal outer retinal structure was present in both eyes; prolonged pVEP latency and reduced amplitudes in both eyes." "" "" "" "" "" "" "" "" "" "simplex Leber congenital amaurosis (LCA)" "" ## Screenings ## Do not remove or alter this header ## ## Count = 51 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000233563" "00232464" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233564" "00232465" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233565" "00232466" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233566" "00232467" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233567" "00232468" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233568" "00232469" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233569" "00232470" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233570" "00232471" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233571" "00232472" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233572" "00232473" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233573" "00232474" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233574" "00232475" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233575" "00232476" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233576" "00232477" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233577" "00232478" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233578" "00232479" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000233579" "00232480" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234760" "00233661" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000234761" "00233662" "1" "02591" "02591" "2019-05-03 15:11:26" "" "" "SEQ-NG" "DNA" "" "" "0000294441" "00293273" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309846" "00308701" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000378035" "00376831" "1" "00000" "00006" "2021-06-25 16:00:48" "" "" "SEQ-NG" "DNA" "" "WES" "0000378036" "00376832" "1" "00000" "00006" "2021-06-25 16:00:48" "" "" "SEQ" "DNA" "" "" "0000378037" "00376833" "1" "00000" "00006" "2021-06-25 16:00:48" "" "" "SEQ" "DNA" "" "" "0000378038" "00376834" "1" "00000" "00006" "2021-06-25 16:00:48" "" "" "SEQ" "DNA" "" "" "0000378039" "00376835" "1" "00000" "00006" "2021-06-25 16:00:48" "" "" "SEQ" "DNA" "" "" "0000385002" "00383777" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385019" "00383794" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385036" "00383811" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000385037" "00383812" "1" "00000" "03840" "2021-09-29 12:39:39" "" "" "SEQ-NG" "DNA" "" "" "0000387488" "00386259" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000388608" "00387382" "1" "00000" "03840" "2021-10-29 09:42:54" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000393818" "00392571" "1" "00000" "03840" "2021-11-23 15:06:01" "" "" "SEQ-NG-I;SEQ" "DNA" "" "whole exome sequencing" "0000394927" "00393679" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000395046" "00393798" "1" "00000" "00008" "2021-11-30 07:46:38" "" "" "SEQ-NG" "DNA" "" "hereditary eye disease enrichment panel (HEDEP)" "0000415004" "00413724" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415005" "00413725" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415006" "00413726" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415007" "00413727" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415008" "00413728" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415009" "00413729" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415010" "00413730" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415011" "00413731" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415012" "00413732" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415013" "00413733" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415014" "00413734" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415015" "00413735" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415016" "00413736" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415017" "00413737" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ;MLPA" "DNA" "" "" "0000415018" "00413738" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" "0000415019" "00413739" "1" "00000" "00008" "2022-07-22 03:34:11" "" "" "SEQ-NG;SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{geneid}}" "0000233563" "SLC7A14" "0000233564" "SLC7A14" "0000233565" "SLC7A14" "0000233566" "SLC7A14" "0000233567" "SLC7A14" "0000233568" "SLC7A14" "0000233569" "SLC7A14" "0000233570" "SLC7A14" "0000233571" "SLC7A14" "0000233572" "SLC7A14" "0000233573" "SLC7A14" "0000233574" "SLC7A14" "0000233575" "SLC7A14" "0000233576" "SLC7A14" "0000233577" "SLC7A14" "0000233578" "SLC7A14" "0000233579" "SLC7A14" "0000234760" "SLC7A14" "0000234761" "SLC7A14" "0000309846" "SLC7A14" "0000378036" "SLC7A14" "0000378037" "SLC7A14" "0000378038" "SLC7A14" "0000378039" "SLC7A14" "0000385002" "SLC7A14" "0000385019" "SLC7A14" "0000385036" "SLC7A14" "0000385037" "SLC7A14" "0000387488" "RPE65" "0000393818" "SLC7A14" "0000394927" "SLC7A14" "0000395046" "SLC7A14" "0000415004" "SLC7A14" "0000415005" "SLC7A14" "0000415006" "SLC7A14" "0000415007" "SLC7A14" "0000415008" "SLC7A14" "0000415009" "SLC7A14" "0000415010" "SLC7A14" "0000415011" "SLC7A14" "0000415012" "SLC7A14" "0000415013" "SLC7A14" "0000415014" "SLC7A14" "0000415015" "SLC7A14" "0000415016" "SLC7A14" "0000415017" "SLC7A14" "0000415018" "SLC7A14" "0000415019" "SLC7A14" ## 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 = 103 "{{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}}" "0000246120" "0" "10" "3" "170198181" "170198181" "subst" "0.00177179" "02330" "SLC7A14_000013" "g.170198181A>C" "" "" "" "SLC7A14(NM_020949.2):c.1890T>G (p.P630=), SLC7A14(NM_020949.3):c.1890T>G (p.P630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170480392A>C" "" "benign" "" "0000246121" "0" "10" "3" "170198595" "170198595" "subst" "0" "02330" "SLC7A14_000003" "g.170198595A>G" "" "" "" "SLC7A14(NM_020949.3):c.1476T>C (p.N492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170480806A>G" "" "benign" "" "0000246122" "0" "10" "3" "170198835" "170198835" "subst" "0" "02330" "SLC7A14_000004" "g.170198835A>G" "" "" "" "SLC7A14(NM_020949.3):c.1236T>C (p.S412=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170481046A>G" "" "benign" "" "0000246123" "0" "10" "3" "170201135" "170201135" "subst" "0.000483272" "02330" "SLC7A14_000007" "g.170201135A>T" "" "" "" "SLC7A14(NM_020949.3):c.1083T>A (p.I361=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170483346A>T" "" "benign" "" "0000295956" "0" "30" "3" "170198903" "170198903" "subst" "0.000887209" "02330" "SLC7A14_000005" "g.170198903C>G" "" "" "" "SLC7A14(NM_020949.2):c.1168G>C (p.V390L), SLC7A14(NM_020949.3):c.1168G>C (p.V390L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170481114C>G" "" "likely benign" "" "0000295957" "0" "10" "3" "170184933" "170184933" "subst" "0.00590329" "02330" "SLC7A14_000001" "g.170184933C>T" "" "" "" "SLC7A14(NM_020949.2):c.2226G>A (p.R742=), SLC7A14(NM_020949.3):c.2226G>A (p.R742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170467145C>T" "" "benign" "" "0000295958" "0" "30" "3" "170244417" "170244417" "subst" "0.000673733" "02330" "SLC7A14_000012" "g.170244417C>T" "" "" "" "SLC7A14(NM_020949.3):c.304+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170526628C>T" "" "likely benign" "" "0000295959" "0" "50" "3" "170218996" "170218996" "subst" "8.12394E-6" "02330" "SLC7A14_000011" "g.170218996G>A" "" "" "" "SLC7A14(NM_020949.3):c.443C>T (p.A148V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170501207G>A" "" "VUS" "" "0000295960" "0" "30" "3" "170204096" "170204096" "subst" "0.00248928" "02330" "SLC7A14_000008" "g.170204096G>A" "" "" "" "SLC7A14(NM_020949.3):c.821C>T (p.T274I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170486307G>A" "" "likely benign" "" "0000308515" "0" "30" "3" "170198959" "170198959" "subst" "0.000383093" "01943" "SLC7A14_000006" "g.170198959G>C" "" "" "" "SLC7A14(NM_020949.2):c.1116-4C>G, SLC7A14(NM_020949.3):c.1116-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170481170G>C" "" "likely benign" "" "0000308516" "0" "30" "3" "170185071" "170185071" "subst" "2.03533E-5" "01943" "SLC7A14_000002" "g.170185071G>A" "" "" "" "SLC7A14(NM_020949.2):c.2088C>T (p.Y696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170467283G>A" "" "likely benign" "" "0000308517" "0" "30" "3" "170184933" "170184933" "subst" "0.00590329" "01943" "SLC7A14_000001" "g.170184933C>T" "" "" "" "SLC7A14(NM_020949.2):c.2226G>A (p.R742=), SLC7A14(NM_020949.3):c.2226G>A (p.R742=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170467145C>T" "" "likely benign" "" "0000308518" "0" "30" "3" "170216576" "170216576" "subst" "0.00013806" "01943" "SLC7A14_000010" "g.170216576G>T" "" "" "" "SLC7A14(NM_020949.2):c.639C>A (p.F213L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170498787G>T" "" "likely benign" "" "0000308519" "0" "30" "3" "170204128" "170204128" "subst" "0.000174635" "01943" "SLC7A14_000009" "g.170204128G>A" "" "" "" "SLC7A14(NM_020949.2):c.789C>T (p.Y263=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170486339G>A" "" "likely benign" "" "0000476271" "0" "50" "3" "170184877" "170184877" "subst" "2.85293E-5" "02591" "SLC7A14_000014" "g.170184877A>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs778261436" "0" "" "" "g.170467089A>G" "" "VUS" "" "0000476272" "0" "90" "3" "170185076" "170185076" "subst" "0.000207653" "02591" "SLC7A14_000015" "g.170185076G>A" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs181011740" "0" "" "" "g.170467288G>A" "" "pathogenic" "" "0000476273" "0" "50" "3" "170185112" "170185112" "subst" "2.87114E-5" "02591" "SLC7A14_000016" "g.170185112C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs777189956" "0" "" "" "g.170467324C>T" "" "VUS" "" "0000476274" "0" "50" "3" "170185119" "170185119" "subst" "8.19988E-6" "02591" "SLC7A14_000017" "g.170185119T>G" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs762466382" "0" "" "" "g.170467331T>G" "" "VUS" "" "0000476275" "0" "50" "3" "170198293" "170198293" "subst" "0" "02591" "SLC7A14_000018" "g.170198293T>C" "3/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.170480504T>C" "" "VUS" "" "0000476276" "0" "50" "3" "170198366" "170198366" "subst" "6.50634E-5" "02591" "SLC7A14_000019" "g.170198366C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147231592" "0" "" "" "g.170480577C>T" "" "VUS" "" "0000476277" "0" "50" "3" "170198389" "170198389" "subst" "0" "02591" "SLC7A14_000020" "g.170198389G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "" "0" "" "" "g.170480600G>A" "" "VUS" "" "0000476278" "0" "50" "3" "170198404" "170198404" "subst" "2.03264E-5" "02591" "SLC7A14_000021" "g.170198404C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs767484956" "0" "" "" "g.170480615C>T" "" "VUS" "" "0000476279" "0" "50" "3" "170198497" "170198497" "subst" "0" "02591" "SLC7A14_000022" "g.170198497G>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs752446863" "0" "" "" "g.170480708G>T" "" "VUS" "" "0000476280" "0" "50" "3" "170198680" "170198680" "subst" "0.00100328" "02591" "SLC7A14_000023" "g.170198680C>A" "24/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs79668755" "0" "" "" "g.170480891C>A" "" "VUS" "" "0000476281" "0" "50" "3" "170198827" "170198827" "subst" "2.84736E-5" "02591" "SLC7A14_000024" "g.170198827G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs200090294" "0" "" "" "g.170481038G>A" "" "VUS" "" "0000476282" "0" "50" "3" "170198942" "170198942" "subst" "0.00763311" "02591" "SLC7A14_000025" "g.170198942C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs114883808" "0" "" "" "g.170481153C>T" "" "VUS" "" "0000476283" "0" "50" "3" "170201230" "170201230" "subst" "0.00170574" "02591" "SLC7A14_000026" "g.170201230C>T" "59/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2276717" "0" "" "" "g.170483441C>T" "" "VUS" "" "0000476284" "0" "50" "3" "170201265" "170201265" "subst" "8.12282E-5" "02591" "SLC7A14_000027" "g.170201265G>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs149289989" "0" "" "" "g.170483476G>A" "" "VUS" "" "0000476285" "0" "50" "3" "170216490" "170216490" "subst" "1.21847E-5" "02591" "SLC7A14_000028" "g.170216490G>A" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs756436577" "0" "" "" "g.170498701G>A" "" "VUS" "" "0000476286" "0" "50" "3" "170216629" "170216629" "subst" "0.000146187" "02591" "SLC7A14_000029" "g.170216629C>T" "4/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs761119299" "0" "" "" "g.170498840C>T" "" "VUS" "" "0000476287" "0" "50" "3" "170218919" "170218919" "subst" "0.000113752" "02591" "SLC7A14_000030" "g.170218919C>T" "2/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs147696235" "0" "" "" "g.170501130C>T" "" "VUS" "" "0000477468" "3" "50" "3" "170198680" "170198680" "subst" "0.00100328" "02591" "SLC7A14_000023" "g.170198680C>A" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs79668755" "0" "" "" "g.170480891C>A" "" "VUS" "" "0000477469" "3" "50" "3" "170201230" "170201230" "subst" "0.00170574" "02591" "SLC7A14_000026" "g.170201230C>T" "1/1204 cases with retinitis pigmentosa" "{PMID:Koyanagi 2019:31213501}, {DOI:Koyanagi 2019:10.1136/jmedgenet-2018-105691}" "" "" "" "Germline" "" "rs2276717" "0" "" "" "g.170483441C>T" "" "VUS" "" "0000518466" "0" "50" "3" "170184862" "170184862" "subst" "0.000156015" "02330" "SLC7A14_000031" "g.170184862A>G" "" "" "" "SLC7A14(NM_020949.3):c.2297T>C (p.L766S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170467074A>G" "" "VUS" "" "0000518467" "0" "50" "3" "170184868" "170184868" "subst" "0" "01943" "SLC7A14_000032" "g.170184868T>A" "" "" "" "SLC7A14(NM_020949.2):c.2291A>T (p.D764V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170467080T>A" "" "VUS" "" "0000518468" "0" "10" "3" "170185174" "170185174" "subst" "0.000683033" "02330" "SLC7A14_000033" "g.170185174C>T" "" "" "" "SLC7A14(NM_020949.3):c.1994-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170467386C>T" "" "benign" "" "0000518469" "0" "30" "3" "170198181" "170198181" "subst" "0.00177179" "01943" "SLC7A14_000013" "g.170198181A>C" "" "" "" "SLC7A14(NM_020949.2):c.1890T>G (p.P630=), SLC7A14(NM_020949.3):c.1890T>G (p.P630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170480392A>C" "" "likely benign" "" "0000518470" "0" "30" "3" "170198367" "170198367" "subst" "0.000162651" "02330" "SLC7A14_000034" "g.170198367G>A" "" "" "" "SLC7A14(NM_020949.2):c.1704C>T (p.C568=), SLC7A14(NM_020949.3):c.1704C>T (p.C568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170480578G>A" "" "likely benign" "" "0000518471" "0" "30" "3" "170198367" "170198367" "subst" "0.000162651" "01943" "SLC7A14_000034" "g.170198367G>A" "" "" "" "SLC7A14(NM_020949.2):c.1704C>T (p.C568=), SLC7A14(NM_020949.3):c.1704C>T (p.C568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170480578G>A" "" "likely benign" "" "0000518472" "0" "10" "3" "170198538" "170198538" "subst" "0.00210352" "02330" "SLC7A14_000035" "g.170198538G>A" "" "" "" "SLC7A14(NM_020949.3):c.1533C>T (p.Y511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170480749G>A" "" "benign" "" "0000518473" "0" "30" "3" "170198680" "170198680" "subst" "0.00100328" "02330" "SLC7A14_000023" "g.170198680C>A" "" "" "" "SLC7A14(NM_020949.3):c.1391G>T (p.C464F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170480891C>A" "" "likely benign" "" "0000518474" "0" "50" "3" "170198899" "170198899" "subst" "0.000373456" "01943" "SLC7A14_000036" "g.170198899G>A" "" "" "" "SLC7A14(NM_020949.2):c.1172C>T (p.S391L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170481110G>A" "" "VUS" "" "0000518475" "0" "10" "3" "170198959" "170198959" "subst" "0.000383093" "02330" "SLC7A14_000006" "g.170198959G>C" "" "" "" "SLC7A14(NM_020949.2):c.1116-4C>G, SLC7A14(NM_020949.3):c.1116-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170481170G>C" "" "benign" "" "0000518476" "0" "50" "3" "170201265" "170201265" "subst" "8.12282E-5" "02330" "SLC7A14_000027" "g.170201265G>A" "" "" "" "SLC7A14(NM_020949.3):c.953C>T (p.T318M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170483476G>A" "" "VUS" "" "0000518477" "0" "10" "3" "170204062" "170204062" "subst" "0.00394772" "02330" "SLC7A14_000037" "g.170204062G>A" "" "" "" "SLC7A14(NM_020949.3):c.855C>T (p.I285=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170486273G>A" "" "benign" "" "0000518478" "0" "50" "3" "170216467" "170216467" "subst" "2.8449E-5" "02330" "SLC7A14_000038" "g.170216467C>T" "" "" "" "SLC7A14(NM_020949.3):c.748G>A (p.G250S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170498678C>T" "" "VUS" "" "0000518479" "0" "10" "3" "170216486" "170216486" "subst" "6.09246E-5" "02330" "SLC7A14_000039" "g.170216486C>T" "" "" "" "SLC7A14(NM_020949.3):c.729G>A (p.E243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170498697C>T" "" "benign" "" "0000518480" "0" "50" "3" "170216524" "170216524" "subst" "0.00026394" "01943" "SLC7A14_000040" "g.170216524C>T" "" "" "" "SLC7A14(NM_020949.2):c.691G>A (p.A231T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170498735C>T" "" "VUS" "" "0000518481" "0" "50" "3" "170218950" "170218950" "subst" "8.12209E-5" "02330" "SLC7A14_000041" "g.170218950G>T" "" "" "" "SLC7A14(NM_020949.3):c.489C>A (p.N163K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170501161G>T" "" "VUS" "" "0000518482" "0" "50" "3" "170244417" "170244417" "subst" "0.000673733" "02327" "SLC7A14_000012" "g.170244417C>T" "" "" "" "SLC7A14(NM_020949.3):c.304+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170526628C>T" "" "VUS" "" "0000518483" "0" "50" "3" "170244598" "170244598" "subst" "1.21877E-5" "02330" "SLC7A14_000042" "g.170244598G>A" "" "" "" "SLC7A14(NM_020949.3):c.128C>T (p.T43M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170526809G>A" "" "VUS" "" "0000608408" "0" "50" "3" "170218893" "170218893" "subst" "1.22114E-5" "02330" "SLC7A14_000044" "g.170218893C>T" "" "" "" "SLC7A14(NM_020949.3):c.541+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170501104C>T" "" "VUS" "" "0000621212" "0" "30" "3" "170201317" "170201317" "subst" "0.000463256" "02330" "SLC7A14_000043" "g.170201317A>G" "" "" "" "SLC7A14(NM_020949.3):c.907-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170483528A>G" "" "likely benign" "" "0000651130" "1" "90" "3" "170201230" "170201230" "subst" "0.00170574" "03575" "SLC7A14_000026" "g.170201230C>T" "10/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "10 heterozygous, no homozygous; {DB:CLININrs2276717}" "Germline" "" "rs2276717" "0" "" "" "g.170483441C>T" "" "pathogenic" "" "0000676877" "0" "30" "3" "170216583" "170216583" "subst" "0.000182728" "01943" "SLC7A14_000045" "g.170216583A>G" "" "" "" "SLC7A14(NM_020949.2):c.632T>C (p.I211T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676878" "0" "50" "3" "170244697" "170244697" "subst" "0" "01943" "SLC7A14_000046" "g.170244697G>C" "" "" "" "SLC7A14(NM_020949.2):c.29C>G (p.P10R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684748" "0" "30" "3" "170201230" "170201230" "subst" "0.00170574" "00004" "SLC7A14_000026" "g.170201230C>T" "frequency 0.018" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.170483441C>T" "" "likely benign" "" "0000719276" "0" "30" "3" "170185029" "170185029" "subst" "8.94738E-5" "01943" "SLC7A14_000047" "g.170185029G>A" "" "" "" "SLC7A14(NM_020949.2):c.2130C>T (p.Y710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719277" "0" "50" "3" "170198903" "170198903" "subst" "0.000887209" "01943" "SLC7A14_000005" "g.170198903C>G" "" "" "" "SLC7A14(NM_020949.2):c.1168G>C (p.V390L), SLC7A14(NM_020949.3):c.1168G>C (p.V390L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000790694" "3" "70" "3" "170201230" "170201230" "subst" "0.00170574" "00000" "SLC7A14_000026" "g.170201230C>T" "" "{PMID:Jin 2014:24670872}" "" "" "" "Germline" "" "" "0" "" "" "g.170483441C>T" "" "likely pathogenic (recessive)" "" "0000790695" "3" "70" "3" "170198680" "170198680" "subst" "0.00100328" "00000" "SLC7A14_000023" "g.170198680C>A" "" "{PMID:Jin 2014:24670872}" "" "" "" "Germline" "" "" "0" "" "" "g.170480891C>A" "" "likely pathogenic (recessive)" "" "0000790696" "1" "70" "3" "170201230" "170201230" "subst" "0.00170574" "00000" "SLC7A14_000026" "g.170201230C>T" "" "{PMID:Jin 2014:24670872}" "" "" "" "Germline" "" "" "0" "" "" "g.170483441C>T" "" "likely pathogenic (recessive)" "" "0000790697" "1" "70" "3" "170219044" "170219044" "subst" "0" "00000" "SLC7A14_000049" "g.170219044G>A" "" "{PMID:Jin 2014:24670872}" "" "" "" "Germline" "" "" "0" "" "" "g.170501255G>A" "" "likely pathogenic (recessive)" "" "0000790698" "1" "70" "3" "170201230" "170201230" "subst" "0.00170574" "00000" "SLC7A14_000026" "g.170201230C>T" "" "{PMID:Jin 2014:24670872}" "" "" "" "Germline" "" "" "0" "" "" "g.170483441C>T" "" "likely pathogenic (recessive)" "" "0000790699" "2" "70" "3" "170185037" "170185037" "subst" "0" "00000" "SLC7A14_000048" "g.170185037A>C" "" "{PMID:Jin 2014:24670872}" "" "" "" "Germline" "" "" "0" "" "" "g.170467249A>C" "" "likely pathogenic (recessive)" "" "0000790700" "2" "70" "3" "170198680" "170198680" "subst" "0.00100328" "00000" "SLC7A14_000023" "g.170198680C>A" "" "{PMID:Jin 2014:24670872}" "" "" "" "Germline" "" "" "0" "" "" "g.170480891C>A" "" "likely pathogenic (recessive)" "" "0000801073" "0" "50" "3" "170216451" "170216451" "subst" "4.06875E-6" "02330" "SLC7A14_000050" "g.170216451C>T" "" "" "" "SLC7A14(NM_020949.3):c.759+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801074" "0" "50" "3" "170216463" "170216463" "subst" "4.06517E-6" "02330" "SLC7A14_000051" "g.170216463C>G" "" "" "" "SLC7A14(NM_020949.3):c.752G>C (p.W251S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000811843" "0" "70" "1" "170185076" "170185076" "subst" "0" "00000" "SLC7A14_000015" "g.170185076G>A" "" "{PMID:Gao 2019:31054281}" "" "c.2083C>T, p.Arg695Cys" "heterozygous" "Germline" "?" "" "0" "" "" "g.170467288G>A" "" "likely pathogenic" "" "0000811860" "0" "70" "1" "170216505" "170216505" "subst" "0" "00000" "SLC7A14_000037" "g.170216505T>A" "" "{PMID:Gao 2019:31054281}" "" "c.710A>T, p.Asn237Ile" "heterozygous" "Germline" "?" "" "0" "" "" "g.170498716T>A" "" "likely pathogenic" "" "0000811877" "0" "70" "10" "170198899" "170198899" "subst" "0" "00000" "SLC7A14_000036" "g.170198899G>A" "" "{PMID:Gao 2019:31054281}" "" "c.1172C>T, p.Ser391Leu" "heterozygous" "Germline" "?" "" "0" "" "" "g.170481110G>A" "" "likely pathogenic" "" "0000811878" "0" "70" "1" "170198899" "170198899" "subst" "0" "00000" "SLC7A14_000036" "g.170198899G>A" "" "{PMID:Gao 2019:31054281}" "" "c.1172C>T, p.Ser391Leu" "heterozygous" "Germline" "?" "" "0" "" "" "g.170481110G>A" "" "likely pathogenic" "" "0000811885" "0" "70" "1" "170198899" "170198899" "subst" "0" "00000" "SLC7A14_000036" "g.170198899G>A" "" "{PMID:Gao 2019:31054281}" "" "c.1172C>T, p.Ser391Leu" "heterozygous" "Germline" "?" "" "0" "" "" "g.170481110G>A" "" "likely pathogenic" "" "0000815520" "0" "50" "3" "170198903" "170198903" "subst" "0.000887209" "00000" "SLC7A14_000005" "g.170198903C>G" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "SLC7A14:NM_020949 c.G1168C, p.V390L" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.170481114C>G" "" "VUS" "ACMG" "0000817306" "0" "90" "3" "170480891" "170480891" "subst" "0" "00000" "SLC7A14_000023" "g.170480891C>A" "" "{PMID:Sun 2020:32100970}" "" "SLC7A14 c.1391G > T, p.Cys464Phe, heterozygous" "" "Unknown" "?" "" "0" "" "" "g.170480891C>A" "" "pathogenic" "ACMG" "0000824640" "0" "50" "3" "170201230" "170201230" "subst" "0.00170574" "00000" "SLC7A14_000026" "g.170201230C>T" "" "{PMID:Ma 2021:33691693}" "" "SLC7A14 c.G988A, p.G330R" "marked as possibly causative, single heterozygous change in a recessive gene, heterozygous" "Unknown" "?" "" "0" "" "" "g.170483441C>T" "" "VUS" "ACMG" "0000826024" "0" "70" "3" "170198680" "170198680" "subst" "0.00100328" "00000" "SLC7A14_000023" "g.170198680C>A" "" "{PMID:Liu-2020:33090715}" "" "c.1391G>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826025" "0" "70" "3" "170201230" "170201230" "subst" "0.00170574" "00000" "SLC7A14_000026" "g.170201230C>T" "" "{PMID:Liu-2020:33090715}" "" "c.988G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000826212" "3" "70" "3" "170201230" "170201230" "subst" "0.00170574" "00000" "SLC7A14_000026" "g.170201230C>T" "" "{PMID:Liu-2020:33090715}" "" "c.988G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000858869" "0" "50" "3" "170216500" "170216500" "subst" "0" "01943" "SLC7A14_000052" "g.170216500T>G" "" "" "" "SLC7A14(NM_020949.2):c.715A>C (p.K239Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858870" "0" "30" "3" "170216501" "170216501" "subst" "0.000186804" "02330" "SLC7A14_000053" "g.170216501C>G" "" "" "" "SLC7A14(NM_020949.3):c.714G>C (p.G238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000872727" "0" "30" "3" "170216490" "170216490" "subst" "1.21847E-5" "00000" "SLC7A14_000028" "g.170216490G>A" "" "{PMID:Sugahara 2017:27028480}" "" "c.725C>T" "" "Germline" "no" "rs756436577" "0" "" "" "" "" "likely benign" "" "0000872728" "0" "30" "3" "170201230" "170201230" "subst" "0.00170574" "00000" "SLC7A14_000026" "g.170201230C>T" "" "{PMID:Sugahara 2017:27028480}" "" "c.988G>A" "" "Germline" "no" "rs2276717" "0" "" "" "" "" "likely benign" "" "0000872729" "0" "30" "3" "170198680" "170198680" "subst" "0.00100328" "00000" "SLC7A14_000023" "g.170198680C>A" "" "{PMID:Sugahara 2017:27028480}" "" "c.1391G>T" "" "Germline" "no" "rs79668755" "0" "" "" "" "" "likely benign" "" "0000872730" "0" "30" "3" "170185076" "170185076" "subst" "0.000207653" "00000" "SLC7A14_000015" "g.170185076G>A" "" "{PMID:Sugahara 2017:27028480}" "" "c.2083C>T" "" "Germline" "no" "rs181011740" "0" "" "" "" "" "likely benign" "" "0000872731" "0" "30" "3" "170244477" "170244477" "subst" "0" "00000" "SLC7A14_000063" "g.170244477T>C" "" "{PMID:Sugahara 2017:27028480}" "" "c.249A>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872732" "0" "30" "3" "170244468" "170244468" "subst" "0" "00000" "SLC7A14_000062" "g.170244468A>C" "" "{PMID:Sugahara 2017:27028480}" "" "c.258T>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872733" "0" "30" "3" "170219103" "170219103" "subst" "0" "00000" "SLC7A14_000061" "g.170219103G>T" "" "{PMID:Sugahara 2017:27028480}" "" "c.336C>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872734" "0" "30" "3" "170216633" "170216633" "subst" "3.65476E-5" "00000" "SLC7A14_000060" "g.170216633C>T" "" "{PMID:Sugahara 2017:27028480}" "" "c.582G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872735" "0" "30" "3" "170216579" "170216579" "subst" "0.000109639" "00000" "SLC7A14_000059" "g.170216579G>A" "" "{PMID:Sugahara 2017:27028480}" "" "c.636C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872736" "0" "30" "3" "170204122" "170204122" "subst" "0.00550276" "00000" "SLC7A14_000058" "g.170204122G>A" "" "{PMID:Sugahara 2017:27028480}" "" "c.795C>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872737" "0" "30" "3" "170201144" "170201144" "subst" "4.87337E-5" "00000" "SLC7A14_000057" "g.170201144C>T" "" "{PMID:Sugahara 2017:27028480}" "" "c.1074G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872738" "0" "30" "3" "170198898" "170198898" "subst" "0.244104" "00000" "SLC7A14_000056" "g.170198898C>T" "" "{PMID:Sugahara 2017:27028480}" "" "c.1173G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872739" "0" "30" "3" "170198769" "170198769" "subst" "0" "00000" "SLC7A14_000055" "g.170198769C>T" "" "{PMID:Sugahara 2017:27028480}" "" "c.1302G>A" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872740" "0" "30" "3" "170198181" "170198181" "subst" "0.00177179" "00000" "SLC7A14_000013" "g.170198181A>C" "" "{PMID:Sugahara 2017:27028480}" "" "c.1890T>G" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000872741" "1" "90" "3" "170201230" "170201230" "subst" "0.00170574" "00000" "SLC7A14_000026" "g.170201230C>T" "" "{PMID:Guo_2019:30924391}" "" "c.988G>A, p.G330R" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872742" "2" "90" "3" "170198101" "170198101" "subst" "1.03936E-5" "00000" "SLC7A14_000054" "g.170198101C>T" "" "{PMID:Guo_2019:30924391}" "" "c.1970G>A, p.R657Q" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000872743" "3" "90" "3" "170201230" "170201230" "subst" "0.00170574" "00000" "SLC7A14_000026" "g.170201230C>T" "" "{PMID:Guo_2019:30924391}" "" "c.988G>A,p.G330R" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000885623" "0" "50" "3" "170204159" "170204159" "subst" "0" "02330" "SLC7A14_000064" "g.170204159T>C" "" "" "" "SLC7A14(NM_020949.3):c.760-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923862" "0" "30" "3" "170198424" "170198424" "subst" "1.21945E-5" "02330" "SLC7A14_000065" "g.170198424G>A" "" "" "" "SLC7A14(NM_020949.3):c.1647C>T (p.G549=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948072" "0" "50" "3" "170198376" "170198376" "subst" "0" "02330" "SLC7A14_000066" "g.170198376C>T" "" "" "" "SLC7A14(NM_020949.3):c.1695G>A (p.V565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948073" "0" "50" "3" "170244628" "170244628" "subst" "0" "02330" "SLC7A14_000067" "g.170244628T>A" "" "" "" "SLC7A14(NM_020949.3):c.98A>T (p.E33V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962554" "0" "30" "3" "170216680" "170216680" "subst" "2.44029E-5" "02330" "SLC7A14_000068" "g.170216680A>G" "" "" "" "SLC7A14(NM_020949.3):c.542-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 SLC7A14 ## Count = 103 "{{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}}" "0000246120" "00019070" "10" "1890" "0" "1890" "0" "c.1890T>G" "r.(?)" "p.(Pro630=)" "" "0000246121" "00019070" "10" "1476" "0" "1476" "0" "c.1476T>C" "r.(?)" "p.(Asn492=)" "" "0000246122" "00019070" "10" "1236" "0" "1236" "0" "c.1236T>C" "r.(?)" "p.(Ser412=)" "" "0000246123" "00019070" "10" "1083" "0" "1083" "0" "c.1083T>A" "r.(?)" "p.(Ile361=)" "" "0000295956" "00019070" "30" "1168" "0" "1168" "0" "c.1168G>C" "r.(?)" "p.(Val390Leu)" "" "0000295957" "00019070" "10" "2226" "0" "2226" "0" "c.2226G>A" "r.(?)" "p.(Arg742=)" "" "0000295958" "00019070" "30" "304" "5" "304" "5" "c.304+5G>A" "r.spl?" "p.?" "" "0000295959" "00019070" "50" "443" "0" "443" "0" "c.443C>T" "r.(?)" "p.(Ala148Val)" "" "0000295960" "00019070" "30" "821" "0" "821" "0" "c.821C>T" "r.(?)" "p.(Thr274Ile)" "" "0000308515" "00019070" "30" "1116" "-4" "1116" "-4" "c.1116-4C>G" "r.spl?" "p.?" "" "0000308516" "00019070" "30" "2088" "0" "2088" "0" "c.2088C>T" "r.(?)" "p.(Tyr696=)" "" "0000308517" "00019070" "30" "2226" "0" "2226" "0" "c.2226G>A" "r.(?)" "p.(Arg742=)" "" "0000308518" "00019070" "30" "639" "0" "639" "0" "c.639C>A" "r.(?)" "p.(Phe213Leu)" "" "0000308519" "00019070" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Tyr263=)" "" "0000476271" "00019070" "50" "2282" "0" "2282" "0" "c.2282T>C" "r.(?)" "p.(Ile761Thr)" "" "0000476272" "00019070" "90" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "0000476273" "00019070" "50" "2047" "0" "2047" "0" "c.2047G>A" "r.(?)" "p.(Ala683Thr)" "" "0000476274" "00019070" "50" "2040" "0" "2040" "0" "c.2040A>C" "r.(?)" "p.(Glu680Asp)" "" "0000476275" "00019070" "50" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Gln593Arg)" "" "0000476276" "00019070" "50" "1705" "0" "1705" "0" "c.1705G>A" "r.(?)" "p.(Val569Met)" "" "0000476277" "00019070" "50" "1682" "0" "1682" "0" "c.1682C>T" "r.(?)" "p.(Thr561Met)" "" "0000476278" "00019070" "50" "1667" "0" "1667" "0" "c.1667G>A" "r.(?)" "p.(Arg556Gln)" "" "0000476279" "00019070" "50" "1574" "0" "1574" "0" "c.1574C>A" "r.(?)" "p.(Ser525Tyr)" "" "0000476280" "00019070" "50" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Cys464Phe)" "" "0000476281" "00019070" "50" "1244" "0" "1244" "0" "c.1244C>T" "r.(?)" "p.(Thr415Met)" "" "0000476282" "00019070" "50" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Val377Ile)" "" "0000476283" "00019070" "50" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "" "0000476284" "00019070" "50" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Thr318Met)" "" "0000476285" "00019070" "50" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Ala242Val)" "" "0000476286" "00019070" "50" "586" "0" "586" "0" "c.586G>A" "r.(?)" "p.(Ala196Thr)" "" "0000476287" "00019070" "50" "520" "0" "520" "0" "c.520G>A" "r.(?)" "p.(Val174Met)" "" "0000477468" "00019070" "50" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Cys464Phe)" "" "0000477469" "00019070" "50" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "" "0000518466" "00019070" "50" "2297" "0" "2297" "0" "c.2297T>C" "r.(?)" "p.(Leu766Ser)" "" "0000518467" "00019070" "50" "2291" "0" "2291" "0" "c.2291A>T" "r.(?)" "p.(Asp764Val)" "" "0000518468" "00019070" "10" "1994" "-9" "1994" "-9" "c.1994-9G>A" "r.(=)" "p.(=)" "" "0000518469" "00019070" "30" "1890" "0" "1890" "0" "c.1890T>G" "r.(?)" "p.(Pro630=)" "" "0000518470" "00019070" "30" "1704" "0" "1704" "0" "c.1704C>T" "r.(?)" "p.(Cys568=)" "" "0000518471" "00019070" "30" "1704" "0" "1704" "0" "c.1704C>T" "r.(?)" "p.(Cys568=)" "" "0000518472" "00019070" "10" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(Tyr511=)" "" "0000518473" "00019070" "30" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Cys464Phe)" "" "0000518474" "00019070" "50" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Ser391Leu)" "" "0000518475" "00019070" "10" "1116" "-4" "1116" "-4" "c.1116-4C>G" "r.spl?" "p.?" "" "0000518476" "00019070" "50" "953" "0" "953" "0" "c.953C>T" "r.(?)" "p.(Thr318Met)" "" "0000518477" "00019070" "10" "855" "0" "855" "0" "c.855C>T" "r.(?)" "p.(Ile285=)" "" "0000518478" "00019070" "50" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Gly250Ser)" "" "0000518479" "00019070" "10" "729" "0" "729" "0" "c.729G>A" "r.(?)" "p.(Glu243=)" "" "0000518480" "00019070" "50" "691" "0" "691" "0" "c.691G>A" "r.(?)" "p.(Ala231Thr)" "" "0000518481" "00019070" "50" "489" "0" "489" "0" "c.489C>A" "r.(?)" "p.(Asn163Lys)" "" "0000518482" "00019070" "50" "304" "5" "304" "5" "c.304+5G>A" "r.spl?" "p.?" "" "0000518483" "00019070" "50" "128" "0" "128" "0" "c.128C>T" "r.(?)" "p.(Thr43Met)" "" "0000608408" "00019070" "50" "541" "5" "541" "5" "c.541+5G>A" "r.spl?" "p.?" "" "0000621212" "00019070" "30" "907" "-6" "907" "-6" "c.907-6T>C" "r.(=)" "p.(=)" "" "0000651130" "00019070" "90" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "" "0000676877" "00019070" "30" "632" "0" "632" "0" "c.632T>C" "r.(?)" "p.(Ile211Thr)" "" "0000676878" "00019070" "50" "29" "0" "29" "0" "c.29C>G" "r.(?)" "p.(Pro10Arg)" "" "0000684748" "00019070" "30" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "" "0000719276" "00019070" "30" "2130" "0" "2130" "0" "c.2130C>T" "r.(?)" "p.(Tyr710=)" "" "0000719277" "00019070" "50" "1168" "0" "1168" "0" "c.1168G>C" "r.(?)" "p.(Val390Leu)" "" "0000790694" "00019070" "70" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "" "0000790695" "00019070" "70" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Cys464Phe)" "" "0000790696" "00019070" "70" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "" "0000790697" "00019070" "70" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ala132Val)" "" "0000790698" "00019070" "70" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "" "0000790699" "00019070" "70" "2122" "0" "2122" "0" "c.2122T>G" "r.(?)" "p.(Phe708Val)" "" "0000790700" "00019070" "70" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Cys464Phe)" "" "0000801073" "00019070" "50" "759" "5" "759" "5" "c.759+5G>A" "r.spl?" "p.?" "" "0000801074" "00019070" "50" "752" "0" "752" "0" "c.752G>C" "r.(?)" "p.(Trp251Ser)" "" "0000811843" "00019070" "70" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "" "0000811860" "00019070" "70" "710" "0" "710" "0" "c.710A>T" "r.(?)" "p.(Asn237Ile)" "" "0000811877" "00019070" "70" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Ser391Leu)" "" "0000811878" "00019070" "70" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Ser391Leu)" "" "0000811885" "00019070" "70" "1172" "0" "1172" "0" "c.1172C>T" "r.(?)" "p.(Ser391Leu)" "" "0000815520" "00019070" "50" "1168" "0" "1168" "0" "c.1168G>C" "r.(?)" "p.(Val390Leu)" "" "0000817306" "00019070" "90" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Cys464Phe)" "7" "0000824640" "00019070" "50" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "" "0000826024" "00019070" "70" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Cys464Phe)" "7" "0000826025" "00019070" "70" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "6" "0000826212" "00019070" "70" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "6" "0000858869" "00019070" "50" "715" "0" "715" "0" "c.715A>C" "r.(?)" "p.(Lys239Gln)" "" "0000858870" "00019070" "30" "714" "0" "714" "0" "c.714G>C" "r.(?)" "p.(Gly238=)" "" "0000872727" "00019070" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Ala242Val)" "4" "0000872728" "00019070" "30" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "6" "0000872729" "00019070" "30" "1391" "0" "1391" "0" "c.1391G>T" "r.(?)" "p.(Cys464Phe)" "7" "0000872730" "00019070" "30" "2083" "0" "2083" "0" "c.2083C>T" "r.(?)" "p.(Arg695Cys)" "8" "0000872731" "00019070" "30" "249" "0" "249" "0" "c.249A>G" "r.(=)" "p.(=)" "2" "0000872732" "00019070" "30" "258" "0" "258" "0" "c.258T>G" "r.(=)" "p.(=)" "2" "0000872733" "00019070" "30" "336" "0" "336" "0" "c.336C>A" "r.(=)" "p.(=)" "3" "0000872734" "00019070" "30" "582" "0" "582" "0" "c.582G>A" "r.(=)" "p.(=)" "4" "0000872735" "00019070" "30" "636" "0" "636" "0" "c.636C>T" "r.(=)" "p.(=)" "4" "0000872736" "00019070" "30" "795" "0" "795" "0" "c.795C>T" "r.(=)" "p.(=)" "5" "0000872737" "00019070" "30" "1074" "0" "1074" "0" "c.1074G>A" "r.(=)" "p.(=)" "6" "0000872738" "00019070" "30" "1173" "0" "1173" "0" "c.1173G>A" "r.(=)" "p.(=)" "7" "0000872739" "00019070" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(=)" "p.(=)" "7" "0000872740" "00019070" "30" "1890" "0" "1890" "0" "c.1890T>G" "r.(=)" "p.(=)" "7" "0000872741" "00019070" "90" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "6" "0000872742" "00019070" "90" "1970" "0" "1970" "0" "c.1970G>A" "r.(?)" "p.(Arg657Gln)" "7" "0000872743" "00019070" "90" "988" "0" "988" "0" "c.988G>A" "r.(?)" "p.(Gly330Arg)" "6" "0000885623" "00019070" "50" "760" "-2" "760" "-2" "c.760-2A>G" "r.spl?" "p.?" "" "0000923862" "00019070" "30" "1647" "0" "1647" "0" "c.1647C>T" "r.(?)" "p.(Gly549=)" "" "0000948072" "00019070" "50" "1695" "0" "1695" "0" "c.1695G>A" "r.(?)" "p.(=)" "" "0000948073" "00019070" "50" "98" "0" "98" "0" "c.98A>T" "r.(?)" "p.(Glu33Val)" "" "0000962554" "00019070" "30" "542" "-7" "542" "-7" "c.542-7T>C" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{variantid}}" "0000233563" "0000476271" "0000233564" "0000476272" "0000233565" "0000476273" "0000233566" "0000476274" "0000233567" "0000476275" "0000233568" "0000476276" "0000233569" "0000476277" "0000233570" "0000476278" "0000233571" "0000476279" "0000233572" "0000476280" "0000233573" "0000476281" "0000233574" "0000476282" "0000233575" "0000476283" "0000233576" "0000476284" "0000233577" "0000476285" "0000233578" "0000476286" "0000233579" "0000476287" "0000234760" "0000477468" "0000234761" "0000477469" "0000294441" "0000651130" "0000309846" "0000684748" "0000378035" "0000790694" "0000378036" "0000790695" "0000378037" "0000790696" "0000378037" "0000790699" "0000378038" "0000790697" "0000378038" "0000790700" "0000378039" "0000790698" "0000385002" "0000811843" "0000385002" "0000811885" "0000385019" "0000811860" "0000385036" "0000811877" "0000385037" "0000811878" "0000387488" "0000815520" "0000388608" "0000817306" "0000393818" "0000824640" "0000394927" "0000826024" "0000394927" "0000826025" "0000395046" "0000826212" "0000415004" "0000872727" "0000415005" "0000872728" "0000415006" "0000872729" "0000415007" "0000872730" "0000415008" "0000872731" "0000415009" "0000872732" "0000415010" "0000872733" "0000415011" "0000872734" "0000415012" "0000872735" "0000415013" "0000872736" "0000415014" "0000872737" "0000415015" "0000872738" "0000415016" "0000872739" "0000415017" "0000872740" "0000415018" "0000872741" "0000415018" "0000872742" "0000415019" "0000872743"