### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC17A8) # 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}}" "SLC17A8" "solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8" "12" "q23.1" "unknown" "NG_021175.1" "UD_132084435696" "" "http://www.LOVD.nl/SLC17A8" "" "1" "20151" "246213" "607557" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/SLC17A8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-04-30 16:17:16" "00006" "2023-11-08 15:20:51" ## 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}}" "00019140" "SLC17A8" "transcript variant 1" "001" "NM_139319.2" "" "NP_647480.1" "" "" "" "-313" "3670" "1770" "100750857" "100815837" "" "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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "02555" "DFNA25" "deafness, autosomal dominant, type 25 (DFNA-25)" "AD" "605583" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC17A8" "02555" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00059166" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00284950" "" "" "" "1" "" "00004" "{PMID:Gonzalez-Garay 2013:24082139}" "" "" "" "" "" "0" "" "" "" "" "00284951" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284952" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284953" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284954" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284955" "" "" "" "1" "" "00004" "{PMID:Ruel 2008:18674745}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00284956" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284957" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284958" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00290567" "" "" "" "18" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304326" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00441542" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "6442" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00059166" "00531" "00284950" "05103" "00284955" "05103" "00290567" "00198" "00304326" "00198" "00441542" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00531, 02555, 05086, 05103 ## Count = 3 "{{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}}" "0000218571" "05103" "00284950" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000218572" "05103" "00284955" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 25" "deafness, non-syndromic, sensorineural" "" "0000330980" "05086" "00441542" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "simplex autosomal recessive hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059145" "00059166" "1" "01551" "01551" "2016-02-29 12:45:02" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000286100" "00284950" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286101" "00284951" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286102" "00284952" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286103" "00284953" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286104" "00284954" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286105" "00284955" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286106" "00284956" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286107" "00284957" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286108" "00284958" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000291735" "00290567" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305455" "00304326" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000443028" "00441542" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000059145" "SLC17A8" "0000286100" "SLC17A8" "0000286101" "SLC17A8" "0000286102" "SLC17A8" "0000286103" "SLC17A8" "0000286104" "SLC17A8" "0000286105" "SLC17A8" "0000286106" "SLC17A8" "0000286107" "SLC17A8" "0000286108" "SLC17A8" ## 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 = 30 "{{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}}" "0000089955" "0" "70" "12" "100774600" "100774600" "subst" "3.65488E-5" "01551" "SLC17A8_000001" "g.100774600C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.100380822C>T" "" "likely pathogenic" "" "0000308244" "0" "30" "12" "100751192" "100751192" "subst" "0.00147415" "01943" "SLC17A8_000002" "g.100751192C>T" "" "" "" "SLC17A8(NM_139319.2):c.23C>T (p.T8I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100357414C>T" "" "likely benign" "" "0000308245" "0" "30" "12" "100774713" "100774713" "subst" "0.00281063" "01943" "SLC17A8_000003" "g.100774713T>C" "" "" "" "SLC17A8(NM_139319.2):c.336T>C (p.D112=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100380935T>C" "" "likely benign" "" "0000308246" "0" "10" "12" "100784775" "100784775" "subst" "0.00335625" "01943" "SLC17A8_000004" "g.100784775C>A" "" "" "" "SLC17A8(NM_139319.2):c.355-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100390997C>A" "" "benign" "" "0000347843" "0" "30" "12" "100811894" "100811894" "subst" "0" "02327" "SLC17A8_000005" "g.100811894T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.100418116T>C" "" "likely benign" "" "0000546184" "0" "30" "12" "100774664" "100774664" "subst" "4.06068E-6" "02327" "SLC17A8_000006" "g.100774664T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100380886T>C" "" "likely benign" "" "0000546185" "0" "50" "12" "100790128" "100790128" "subst" "0" "02327" "SLC17A8_000007" "g.100790128C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100396350C>G" "" "VUS" "" "0000546186" "0" "50" "12" "100813812" "100813812" "subst" "0.000252158" "01943" "SLC17A8_000008" "g.100813812G>A" "" "" "" "SLC17A8(NM_139319.2):c.1645G>A (p.G549R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100420034G>A" "" "VUS" "" "0000613798" "0" "30" "12" "100790110" "100790110" "subst" "0" "01943" "SLC17A8_000009" "g.100790110T>C" "" "" "" "SLC17A8(NM_139319.2):c.591T>C (p.G197=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100396332T>C" "" "likely benign" "" "0000622761" "0" "50" "12" "100796485" "100796485" "subst" "0.000138511" "01943" "SLC17A8_000010" "g.100796485G>A" "" "" "" "SLC17A8(NM_139319.2):c.1015G>A (p.A339T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100402707G>A" "" "VUS" "" "0000622762" "0" "50" "12" "100796486" "100796486" "subst" "0.000138492" "01943" "SLC17A8_000011" "g.100796486C>A" "" "" "" "SLC17A8(NM_139319.2):c.1016C>A (p.A339D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.100402708C>A" "" "VUS" "" "0000641842" "1" "99" "12" "100774600" "100774600" "subst" "3.65488E-5" "00004" "SLC17A8_000001" "g.100774600C>T" "" "{DB:DVD}, {PMID:Gonzalez-Garay 2013:24082139}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100380822C>T" "" "pathogenic" "" "0000641843" "1" "55" "12" "100774687" "100774687" "subst" "5.685E-5" "00004" "SLC17A8_000012" "g.100774687G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100380909G>A" "" "VUS" "" "0000641844" "1" "11" "12" "100774713" "100774713" "subst" "0.00281063" "00004" "SLC17A8_000003" "g.100774713T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100380935T>C" "" "benign" "" "0000641845" "1" "55" "12" "100774735" "100774735" "subst" "2.43867E-5" "00004" "SLC17A8_000013" "g.100774735G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100380957G>C" "" "VUS" "" "0000641846" "1" "55" "12" "100787220" "100787220" "subst" "4.46835E-5" "00004" "SLC17A8_000014" "g.100787220G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100393442G>A" "" "VUS" "" "0000641847" "1" "99" "12" "100790151" "100790151" "subst" "0" "00004" "SLC17A8_000015" "g.100790151C>T" "" "{DB:DVD}, {PMID:Ruel 2008:18674745}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100396373C>T" "" "pathogenic" "" "0000641848" "1" "55" "12" "100795583" "100795583" "subst" "4.06507E-6" "00004" "SLC17A8_000016" "g.100795583G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100401805G>A" "" "VUS" "" "0000641849" "1" "55" "12" "100796208" "100796208" "subst" "1.62909E-5" "00004" "SLC17A8_000017" "g.100796208C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100402430C>T" "" "VUS" "" "0000641850" "1" "55" "12" "100811905" "100811905" "subst" "0.000142238" "00004" "SLC17A8_000018" "g.100811905C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.100418127C>A" "" "VUS" "" "0000648424" "1" "50" "12" "100797882" "100797882" "subst" "0.00125545" "03575" "SLC17A8_000019" "g.100797882G>T" "18/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "18 heterozygous; {DB:CLININrs138307707}" "Germline" "" "rs138307707" "0" "" "" "g.100404104G>T" "" "VUS" "" "0000669143" "3" "50" "12" "100797882" "100797882" "subst" "0.00125545" "03575" "SLC17A8_000019" "g.100797882G>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs138307707}" "Germline" "" "rs138307707" "0" "" "" "g.100404104G>T" "" "VUS" "" "0000679376" "0" "30" "12" "100797879" "100797879" "subst" "5.68787E-5" "01943" "SLC17A8_000020" "g.100797879T>C" "" "" "" "SLC17A8(NM_139319.2):c.1117T>C (p.L373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691225" "0" "30" "12" "100774550" "100774550" "subst" "8.12321E-6" "01943" "SLC17A8_000021" "g.100774550C>T" "" "" "" "SLC17A8(NM_139319.2):c.173C>T (p.S58F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723783" "0" "30" "12" "100784826" "100784826" "subst" "2.84389E-5" "01943" "SLC17A8_000022" "g.100784826A>T" "" "" "" "SLC17A8(NM_139319.2):c.402A>T (p.G134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723784" "0" "50" "12" "100811842" "100811842" "subst" "0" "02327" "SLC17A8_000023" "g.100811842T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853223" "0" "30" "12" "100796512" "100796512" "subst" "0" "02327" "SLC17A8_000024" "g.100796512G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853224" "0" "30" "12" "100813812" "100813812" "subst" "0.000252158" "02327" "SLC17A8_000008" "g.100813812G>A" "" "" "" "SLC17A8(NM_139319.2):c.1645G>A (p.G549R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913728" "0" "50" "12" "100813860" "100813860" "subst" "4.06736E-6" "02327" "SLC17A8_000025" "g.100813860C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944387" "0" "90" "12" "100813812" "100813812" "subst" "0.000252158" "00006" "SLC17A8_000008" "g.100813812G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.100420034G>A" "" "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 SLC17A8 ## Count = 30 "{{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}}" "0000089955" "00019140" "70" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Cys)" "2" "0000308244" "00019140" "30" "23" "0" "23" "0" "c.23C>T" "r.(?)" "p.(Thr8Ile)" "" "0000308245" "00019140" "30" "336" "0" "336" "0" "c.336T>C" "r.(?)" "p.(Asp112=)" "" "0000308246" "00019140" "10" "355" "-4" "355" "-4" "c.355-4C>A" "r.spl?" "p.?" "" "0000347843" "00019140" "30" "1385" "0" "1385" "0" "c.1385T>C" "r.(?)" "p.(Met462Thr)" "" "0000546184" "00019140" "30" "287" "0" "287" "0" "c.287T>C" "r.(?)" "p.(Leu96Pro)" "" "0000546185" "00019140" "50" "609" "0" "609" "0" "c.609C>G" "r.(?)" "p.(Cys203Trp)" "" "0000546186" "00019140" "50" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Gly549Arg)" "" "0000613798" "00019140" "30" "591" "0" "591" "0" "c.591T>C" "r.(?)" "p.(Gly197=)" "" "0000622761" "00019140" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "" "0000622762" "00019140" "50" "1016" "0" "1016" "0" "c.1016C>A" "r.(?)" "p.(Ala339Asp)" "" "0000641842" "00019140" "99" "223" "0" "223" "0" "c.223C>T" "r.(?)" "p.(Arg75Cys)" "2" "0000641843" "00019140" "55" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Val104Ile)" "2" "0000641844" "00019140" "11" "336" "0" "336" "0" "c.336T>C" "r.(=)" "p.(=)" "2" "0000641845" "00019140" "55" "354" "4" "354" "4" "c.354+4G>C" "r.spl?" "p.?" "2i" "0000641846" "00019140" "55" "547" "0" "547" "0" "c.547G>A" "r.(?)" "p.(Gly183Arg)" "4" "0000641847" "00019140" "99" "632" "0" "632" "0" "c.632C>T" "r.(?)" "p.(Ala211Val)" "5" "0000641848" "00019140" "55" "705" "0" "705" "0" "c.705G>A" "r.(?)" "p.(Met235Ile)" "6" "0000641849" "00019140" "55" "854" "0" "854" "0" "c.854C>T" "r.(?)" "p.(Thr285Ile)" "7" "0000641850" "00019140" "55" "1396" "0" "1396" "0" "c.1396C>A" "r.(?)" "p.(Leu466Ile)" "11" "0000648424" "00019140" "50" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Ala374Ser)" "" "0000669143" "00019140" "50" "1120" "0" "1120" "0" "c.1120G>T" "r.(?)" "p.(Ala374Ser)" "" "0000679376" "00019140" "30" "1117" "0" "1117" "0" "c.1117T>C" "r.(?)" "p.(Leu373=)" "" "0000691225" "00019140" "30" "173" "0" "173" "0" "c.173C>T" "r.(?)" "p.(Ser58Phe)" "" "0000723783" "00019140" "30" "402" "0" "402" "0" "c.402A>T" "r.(?)" "p.(Gly134=)" "" "0000723784" "00019140" "50" "1333" "0" "1333" "0" "c.1333T>C" "r.(?)" "p.(Tyr445His)" "" "0000853223" "00019140" "30" "1042" "0" "1042" "0" "c.1042G>C" "r.(?)" "p.(Ala348Pro)" "" "0000853224" "00019140" "30" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Gly549Arg)" "" "0000913728" "00019140" "50" "1693" "0" "1693" "0" "c.1693C>T" "r.(?)" "p.(Gln565*)" "" "0000944387" "00019140" "90" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Gly549Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000059145" "0000089955" "0000286100" "0000641842" "0000286101" "0000641843" "0000286102" "0000641844" "0000286103" "0000641845" "0000286104" "0000641846" "0000286105" "0000641847" "0000286106" "0000641848" "0000286107" "0000641849" "0000286108" "0000641850" "0000291735" "0000648424" "0000305455" "0000669143" "0000443028" "0000944387"