### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC9A7) # 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}}" "SLC9A7" "solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7" "X" "p11.3" "unknown" "NG_012622.2" "UD_134408461583" "" "https://www.LOVD.nl/SLC9A7" "" "1" "17123" "84679" "300368" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. 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/SLC9A7_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-03-06 00:00:00" "00006" "2020-05-18 10:36:53" "00000" "2025-05-05 21:14:00" ## 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}}" "00019083" "SLC9A7" "transcript variant 2" "001" "NM_032591.2" "" "NP_115980.1" "" "" "" "-143" "9879" "2178" "46618607" "46458686" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "05736" "MRX108" "mental retardation, X-linked, type 108 (MRX108)" "XLR" "301024" "" "" "" "00006" "2020-05-11 15:04:33" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC9A7" "00139" "SLC9A7" "05736" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00172944" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172945" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172946" "" "" "" "93" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172947" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00301509" "" "" "" "4" "" "03671" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "6-generation family, 4 affected (4M), unaffected carrier females" "M" "" "Australia" ">27y" "0" "" "" "white" "Fam1PatVI1" "00301510" "" "" "00301509" "1" "" "03671" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "M" "yes" "Australia" ">65y" "0" "" "" "White" "Fam1PatV1" "00301511" "" "" "00301509" "1" "" "03671" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "M" "yes" "Australia" ">58y" "0" "" "" "white" "Fam1PatV6" "00301512" "" "" "00301509" "1" "" "03671" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "M" "yes" "Australia" ">56y" "0" "" "" "white" "Fam1PatV7" "00301688" "" "" "" "2" "" "03671" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "4-generation family, 2 affected males, 2 unaffected heterozygous carrier females" "M" "yes" "United States" ">04y" "0" "" "" "White" "Fam2PatIV2" "00301689" "" "" "00301688" "1" "" "03671" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "M" "yes" "United States" ">36y" "0" "" "" "white" "Fam2PatIII5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00172944" "00187" "00172945" "00187" "00172946" "00187" "00172947" "00187" "00301509" "00139" "00301510" "00139" "00301511" "00139" "00301512" "00139" "00301688" "00139" "00301689" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 05736 ## Count = 10 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000137808" "00187" "00172944" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137809" "00187" "00172945" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137810" "00187" "00172946" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137811" "00187" "00172947" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000228638" "00139" "00301509" "03671" "Familial, X-linked recessive" "27y" "high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "MRX108" "intellectual disability" "0000228639" "00139" "00301510" "03671" "Familial, X-linked recessive" "65y" "high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "MRX108" "intellectual disability" "0000228640" "00139" "00301511" "03671" "Familial, X-linked recessive" "58y" "high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "MRX108" "intellectual disability" "0000228641" "00139" "00301512" "03671" "Familial, X-linked recessive" "56y" "high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "MRX108" "intellectual disability" "0000228788" "00139" "00301688" "03671" "Familial, X-linked recessive" "04y" "Hypotonia (HP:0001290); Motor delay (HP:0001270); high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "MRX108" "intellectual disability" "0000228789" "00139" "00301689" "03671" "Familial, X-linked recessive" "36y" "Hypotonia (HP:0001290); Motor delay (HP:0001270); high anterior hairline (HP:0009890); long face (HP:0000276); prominent nasolabial fold (HP:0005272); intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "MRX108" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000173827" "00172944" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173828" "00172945" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173829" "00172946" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173830" "00172947" "1" "00124" "00006" "2009-04-08 14:04:23" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000302630" "00301509" "1" "03671" "03671" "2020-05-16 13:37:52" "" "" "SEQ" "DNA" "" "" "0000302631" "00301510" "1" "03671" "03671" "2020-05-16 17:51:41" "" "" "SEQ" "DNA" "" "" "0000302632" "00301511" "1" "03671" "03671" "2020-05-16 17:58:53" "" "" "SEQ" "DNA" "" "" "0000302633" "00301512" "1" "03671" "03671" "2020-05-16 18:03:37" "" "" "SEQ" "DNA" "" "" "0000302813" "00301688" "1" "03671" "03671" "2020-05-20 17:11:00" "" "" "SEQ" "DNA" "" "" "0000302814" "00301689" "1" "03671" "03671" "2020-05-20 17:57:16" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000173827" "NXF5" "0000173828" "CDK16" "0000173829" "CCNB3" "0000173830" "CCNB3" "0000302630" "SLC9A7" "0000302631" "SLC9A7" "0000302632" "SLC9A7" "0000302633" "SLC9A7" "0000302813" "SLC9A7" "0000302814" "SLC9A7" ## 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 = 28 "{{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}}" "0000308534" "0" "50" "X" "46521972" "46521972" "subst" "0" "01943" "SLC9A7_000002" "g.46521972C>T" "" "" "" "SLC9A7(NM_001257291.2):c.899+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46662537C>T" "" "VUS" "" "0000333862" "0" "50" "X" "46480492" "46480492" "subst" "0.00136692" "01804" "SLC9A7_000001" "g.46480492G>A" "" "" "" "SLC9A7(NM_001257291.1):c.1743C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.46621057G>A" "" "VUS" "" "0000394066" "1" "50" "X" "46513096" "46513096" "subst" "3.92786E-5" "00124" "SLC9A7_000007" "g.46513096G>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.46653661G>C" "" "VUS" "" "0000394067" "1" "30" "X" "46480492" "46480492" "subst" "0.00136692" "00124" "SLC9A7_000001" "g.46480492G>A" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "D580D" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.46621057G>A" "" "likely benign" "" "0000394068" "1" "30" "X" "46472826" "46472826" "subst" "0.575293" "00124" "SLC9A7_000006" "g.46472826G>A" "93/208 cases" "{PMID:Tarpey 2009:19377476}" "" "Y608Y" "recurrent, found 93 times" "Germline" "" "" "0" "" "" "g.46613391G>A" "" "likely benign" "" "0000394069" "1" "50" "X" "46541841" "46541841" "subst" "3.92034E-5" "00124" "SLC9A7_000008" "g.46541841T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.46682406T>C" "" "VUS" "" "0000665972" "21" "90" "X" "46502741" "46502741" "subst" "0" "03671" "SLC9A7_000010" "g.46502741G>A" "" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46643306G>A" "" "pathogenic (recessive)" "" "0000665973" "21" "90" "X" "46502741" "46502741" "subst" "0" "03671" "SLC9A7_000010" "g.46502741G>A" "" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46643306G>A" "" "pathogenic (recessive)" "" "0000665974" "21" "90" "X" "46502741" "46502741" "subst" "0" "03671" "SLC9A7_000010" "g.46502741G>A" "" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46643306G>A" "" "pathogenic (recessive)" "" "0000665975" "21" "90" "X" "46502741" "46502741" "subst" "0" "03671" "SLC9A7_000010" "g.46502741G>A" "" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46643306G>A" "" "pathogenic (recessive)" "" "0000666170" "21" "90" "X" "46502741" "46502741" "subst" "0" "03671" "SLC9A7_000010" "g.46502741G>A" "" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46643306G>A" "" "pathogenic (recessive)" "" "0000666171" "21" "90" "X" "46502741" "46502741" "subst" "0" "03671" "SLC9A7_000010" "g.46502741G>A" "" "{PMID:Khayat 20219:30335141}, {DOI:Khayat 2019:10.1093/hmg/ddy371}" "" "" "" "Germline" "yes" "" "0" "" "" "g.46643306G>A" "" "pathogenic (recessive)" "" "0000693596" "0" "50" "X" "46466481" "46466481" "subst" "3.92278E-5" "01943" "SLC9A7_000011" "g.46466481G>A" "" "" "" "SLC9A7(NM_032591.2):c.2084C>T (p.S695L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693597" "0" "50" "X" "46513096" "46513096" "subst" "3.92786E-5" "01943" "SLC9A7_000007" "g.46513096G>C" "" "" "" "SLC9A7(NM_032591.2):c.1092C>G (p.F364L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728922" "0" "30" "X" "46508206" "46508206" "subst" "4.48315E-5" "02325" "SLC9A7_000012" "g.46508206C>T" "" "" "" "SLC9A7(NM_032591.3):c.1374G>A (p.A458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810404" "0" "30" "X" "46502684" "46502684" "subst" "0.000272667" "01943" "SLC9A7_000013" "g.46502684A>G" "" "" "" "SLC9A7(NM_032591.2):c.1600T>C (p.W534R), SLC9A7(NM_032591.3):c.1600T>C (p.W534R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810405" "0" "50" "X" "46529129" "46529129" "subst" "3.13954E-5" "01943" "SLC9A7_000014" "g.46529129G>A" "" "" "" "SLC9A7(NM_032591.2):c.706C>T (p.L236F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810406" "0" "30" "X" "46618319" "46618319" "subst" "9.88038E-5" "01943" "SLC9A7_000015" "g.46618319T>G" "" "" "" "SLC9A7(NM_032591.2):c.146A>C (p.E49A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810407" "0" "30" "X" "46618388" "46618402" "del" "0" "01943" "SLC9A7_000005" "g.46618388_46618402del" "" "" "" "SLC9A7(NM_032591.2):c.73_87delCTGCCGCTGCTGCTG (p.L25_L29del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856625" "0" "30" "X" "46510832" "46510832" "subst" "0.00274456" "01943" "SLC9A7_000016" "g.46510832T>C" "" "" "" "SLC9A7(NM_032591.2):c.1152A>G (p.V384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915715" "0" "50" "X" "46495034" "46495034" "subst" "0" "02327" "SLC9A7_000017" "g.46495034G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915716" "0" "50" "X" "46531989" "46531989" "subst" "1.13144E-5" "02325" "SLC9A7_000018" "g.46531989A>G" "" "" "" "SLC9A7(NM_032591.3):c.677T>C (p.I226T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931417" "0" "50" "X" "46480455" "46480455" "subst" "0" "02327" "SLC9A7_000019" "g.46480455C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951760" "0" "30" "X" "46502684" "46502684" "subst" "0.000272667" "02325" "SLC9A7_000013" "g.46502684A>G" "" "" "" "SLC9A7(NM_032591.2):c.1600T>C (p.W534R), SLC9A7(NM_032591.3):c.1600T>C (p.W534R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001016034" "0" "50" "X" "46472805" "46472805" "subst" "5.7925E-6" "02325" "SLC9A7_000020" "g.46472805G>T" "" "" "" "SLC9A7(NM_032591.3):c.1845C>A (p.H615Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027501" "0" "30" "X" "46618252" "46618252" "subst" "0" "02325" "SLC9A7_000021" "g.46618252G>A" "" "" "" "SLC9A7(NM_032591.3):c.213C>T (p.S71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044347" "0" "30" "X" "46493387" "46493387" "subst" "0" "01804" "SLC9A7_000022" "g.46493387G>A" "" "" "" "SLC9A7(NM_001257291.2):c.1676+1637C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044348" "0" "50" "X" "46618388" "46618393" "dup" "0" "01804" "SLC9A7_000023" "g.46618388_46618393dup" "" "" "" "SLC9A7(NM_001257291.2):c.77_82dup (p.(Pro26_Leu27dup))" "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 SLC9A7 ## Count = 28 "{{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}}" "0000308534" "00019083" "50" "899" "1" "899" "1" "c.899+1G>A" "r.spl?" "p.?" "" "0000333862" "00019083" "50" "1740" "0" "1740" "0" "c.1740C>T" "r.(?)" "p.(Asp580=)" "" "0000394066" "00019083" "50" "1092" "0" "1092" "0" "c.1092C>G" "r.(?)" "p.(Phe364Leu)" "" "0000394067" "00019083" "30" "1740" "0" "1740" "0" "c.1740C>T" "r.(=)" "p.(=)" "" "0000394068" "00019083" "30" "1824" "0" "1824" "0" "c.1824C>T" "r.(=)" "p.(=)" "" "0000394069" "00019083" "50" "455" "0" "455" "0" "c.455A>G" "r.(?)" "p.(Glu152Gly)" "" "0000665972" "00019083" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Leu515Phe)" "" "0000665973" "00019083" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Leu515Phe)" "" "0000665974" "00019083" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Leu515Phe)" "" "0000665975" "00019083" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Leu515Phe)" "" "0000666170" "00019083" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Leu515Phe)" "" "0000666171" "00019083" "90" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Leu515Phe)" "X" "0000693596" "00019083" "50" "2084" "0" "2084" "0" "c.2084C>T" "r.(?)" "p.(Ser695Leu)" "" "0000693597" "00019083" "50" "1092" "0" "1092" "0" "c.1092C>G" "r.(?)" "p.(Phe364Leu)" "" "0000728922" "00019083" "30" "1374" "0" "1374" "0" "c.1374G>A" "r.(?)" "p.(Ala458=)" "" "0000810404" "00019083" "30" "1600" "0" "1600" "0" "c.1600T>C" "r.(?)" "p.(Trp534Arg)" "" "0000810405" "00019083" "50" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Leu236Phe)" "" "0000810406" "00019083" "30" "146" "0" "146" "0" "c.146A>C" "r.(?)" "p.(Glu49Ala)" "" "0000810407" "00019083" "30" "73" "0" "87" "0" "c.73_87del" "r.(?)" "p.(Leu25_Leu29del)" "" "0000856625" "00019083" "30" "1152" "0" "1152" "0" "c.1152A>G" "r.(?)" "p.(Val384=)" "" "0000915715" "00019083" "50" "1663" "0" "1663" "0" "c.1663C>T" "r.(?)" "p.(Gln555*)" "" "0000915716" "00019083" "50" "677" "0" "677" "0" "c.677T>C" "r.(?)" "p.(Ile226Thr)" "" "0000931417" "00019083" "50" "1777" "0" "1777" "0" "c.1777G>T" "r.(?)" "p.(Glu593*)" "" "0000951760" "00019083" "30" "1600" "0" "1600" "0" "c.1600T>C" "r.(?)" "p.(Trp534Arg)" "" "0001016034" "00019083" "50" "1845" "0" "1845" "0" "c.1845C>A" "r.(?)" "p.(His615Gln)" "" "0001027501" "00019083" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(=)" "" "0001044347" "00019083" "30" "1673" "1637" "1673" "1637" "c.1673+1637C>T" "r.(=)" "p.(=)" "" "0001044348" "00019083" "50" "77" "0" "82" "0" "c.77_82dup" "r.(?)" "p.(Pro26_Leu27dup)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000173827" "0000394066" "0000173828" "0000394067" "0000173829" "0000394068" "0000173830" "0000394069" "0000302630" "0000665972" "0000302631" "0000665973" "0000302632" "0000665974" "0000302633" "0000665975" "0000302813" "0000666170" "0000302814" "0000666171"