### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KIAA0753) # 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}}" "KIAA0753" "KIAA0753" "17" "p13.1" "unknown" "NC_000017.10" "UD_132378568458" "" "http://www.LOVD.nl/KIAA0753" "" "1" "29110" "9851" "617112" "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/KIAA0753_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-07-25 20:56:25" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00010503" "KIAA0753" "KIAA0753" "001" "NM_014804.2" "" "NP_055619.2" "" "" "" "-359" "4326" "2904" "6544247" "6481645" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05346" "SEMD" "dysplasia, spondyloepimetaphyseal (SEMD)" "" "" "" "" "" "00006" "2017-11-17 14:28:27" "" "" "06336" "OFD15" "?Orofaciodigital syndrome XV" "AR" "617127" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KIAA0753" "06336" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00078725" "" "" "" "1" "" "01581" "" "" "" "" "" "" "0" "" "" "" "" "00078726" "" "" "" "1" "" "01581" "" "" "" "" "" "" "0" "" "" "" "" "00359408" "" "" "" "1" "" "03149" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "M" "yes" "Brazil" "" "0" "" "" "" "Pat6" "00377692" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 79" "F" "" "United States" "" "0" "" "" "" "390" "00377693" "" "" "" "1" "" "00000" "{PMID:Brooks 2018:30055837}" "family 79" "M" "" "United States" "" "0" "" "" "" "389" "00388080" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "389" "00388081" "" "" "" "1" "" "00000" "{PMID:Summers 2017:28497568}" "" "" "" "United States" "" "0" "" "" "" "390" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00078725" "00198" "00078726" "00198" "00359408" "05346" "00377692" "04214" "00377693" "04214" "00388080" "04214" "00388081" "04214" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 04214, 05346, 06336 ## Count = 7 "{{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}}" "0000058482" "00198" "00078725" "01581" "Familial, autosomal recessive" "" "Orofacial digital syndrome type VI\r\nJoubert syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000058483" "00198" "00078726" "01581" "Familial, autosomal recessive" "" "Orofacial digital syndrome VI\r\nJoubert syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000272844" "04214" "00377692" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia, strabismus" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000272845" "04214" "00377693" "00000" "Familial, autosomal recessive" "" "oculomotor apraxia" "" "" "" "" "" "" "" "" "" "Joubert syndrome" "" "0000281674" "04214" "00388080" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000281675" "04214" "00388081" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Joubert syndrome (JBTS)" "" "0000350789" "05346" "00359408" "00006" "Familial, autosomal recessive" "02y" "see paper; ..." "" "" "" "" "" "" "" "" "OFD15" "spondylo-epi-(meta)-physeal dysplasia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000078913" "00078725" "1" "01581" "01581" "2016-07-22 20:17:02" "" "" "SEQ-NG" "DNA" "" "" "0000078914" "00078726" "1" "01581" "01581" "2016-07-22 20:27:39" "00006" "2016-07-27 08:45:05" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000360650" "00359408" "1" "03149" "03149" "2021-03-20 18:48:06" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000378896" "00377692" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000378897" "00377693" "1" "00000" "03840" "2021-08-02 11:30:27" "" "" "SEQ-NG" "DNA" "blood" "targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome" "0000389319" "00388080" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" "0000389320" "00388081" "1" "00000" "00008" "2021-11-02 00:52:48" "00008" "2021-11-04 08:55:19" "SEQ-NG" "DNA" "blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000078913" "KIAA0753" "0000078914" "KIAA0753" "0000378896" "KIAA0753" "0000378897" "KIAA0753" "0000389319" "KIAA0753" "0000389320" "KIAA0753" ## 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 = 34 "{{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}}" "0000126480" "1" "90" "17" "6528131" "6528131" "subst" "0" "01581" "KIAA0753_000001" "g.6528131T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.6624811T>C" "" "pathogenic" "" "0000126481" "2" "90" "17" "6498374" "6498374" "subst" "0" "01581" "KIAA0753_000002" "g.6498374C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.6595054C>G" "" "pathogenic" "" "0000562832" "0" "90" "17" "6528125" "6528125" "subst" "0" "02327" "KIAA0753_000003" "g.6528125G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6624805G>A" "" "pathogenic" "" "0000616773" "0" "30" "17" "6531919" "6531919" "subst" "0.00180036" "01943" "KIAA0753_000005" "g.6531919A>G" "" "" "" "KIAA0753(NM_014804.2):c.236T>C (p.V79A), KIAA0753(NM_014804.3):c.236T>C (p.V79A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6628599A>G" "" "likely benign" "" "0000623745" "0" "30" "17" "6499505" "6499505" "subst" "0.000695772" "01943" "KIAA0753_000004" "g.6499505G>A" "" "" "" "KIAA0753(NM_001351225.1):c.1434C>T (p.I478=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6596185G>A" "" "likely benign" "" "0000680987" "0" "50" "17" "6526218" "6526218" "subst" "0" "01943" "KIAA0753_000006" "g.6526218A>G" "" "" "" "KIAA0753(NM_001351225.1):c.191T>C (p.I64T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692445" "0" "30" "17" "6498302" "6498302" "subst" "0" "01943" "KIAA0753_000007" "g.6498302T>C" "" "" "" "KIAA0753(NM_001351225.1):c.1533A>G (p.E511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692446" "0" "30" "17" "6498313" "6498313" "subst" "0" "01943" "KIAA0753_000008" "g.6498313A>C" "" "" "" "KIAA0753(NM_001351225.1):c.1522T>G (p.W508G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726628" "0" "30" "17" "6515229" "6515229" "subst" "0.00104178" "01943" "KIAA0753_000009" "g.6515229G>A" "" "" "" "KIAA0753(NM_001351225.1):c.648+10C>T, KIAA0753(NM_014804.3):c.1545+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726629" "0" "30" "17" "6524121" "6524121" "subst" "0" "01943" "KIAA0753_000010" "g.6524121C>T" "" "" "" "KIAA0753(NM_001351225.1):c.405G>A (p.K135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000760710" "3" "70" "17" "6526336" "6526336" "subst" "1.62703E-5" "03149" "KIAA0753_000011" "g.6526336G>A" "" "{PMID:Silveira 2021:34529350}, {DOI:Silveira 2021:10.1002/ajmg.c.31937}" "" "" "ACMG PVS1, PP4, PM3, PM2, PP5" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000791802" "0" "70" "17" "6528131" "6528131" "subst" "0" "00000" "KIAA0753_000001" "g.6528131T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.769A>G; p.R257G" "" "Germline" "?" "" "0" "" "" "g.6624811T>C" "" "likely pathogenic" "" "0000791803" "0" "70" "17" "6528131" "6528131" "subst" "0" "00000" "KIAA0753_000001" "g.6528131T>C" "" "{PMID:Brooks 2018:30055837}" "" "c.769A>G; p.R257G" "" "Germline" "?" "" "0" "" "" "g.6624811T>C" "" "likely pathogenic" "" "0000791881" "0" "70" "17" "6498374" "6498374" "subst" "0" "00000" "KIAA0753_000002" "g.6498374C>G" "" "{PMID:Brooks 2018:30055837}" "" "c.2359-1G>C" "" "Germline" "?" "" "0" "" "" "g.6595054C>G" "" "likely pathogenic" "" "0000791882" "0" "70" "17" "6498374" "6498374" "subst" "0" "00000" "KIAA0753_000002" "g.6498374C>G" "" "{PMID:Brooks 2018:30055837}" "" "c.2359-1G>C" "" "Germline" "?" "" "0" "" "" "g.6595054C>G" "" "likely pathogenic" "" "0000808226" "0" "90" "17" "6493199" "6493199" "subst" "0.000593501" "01943" "KIAA0753_000012" "g.6493199G>A" "" "" "" "KIAA0753(NM_001351225.1):c.1789C>T (p.Q597*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000818275" "0" "90" "17" "6528131" "6528131" "subst" "0" "00000" "KIAA0753_000001" "g.6528131T>C" "" "{PMID:Summers 2017:28497568}" "" "c.769A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818276" "0" "90" "17" "6498374" "6498374" "subst" "0" "00000" "KIAA0753_000002" "g.6498374C>G" "" "{PMID:Summers 2017:28497568}" "" "c.2359-1G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818277" "0" "90" "17" "6528131" "6528131" "subst" "0" "00000" "KIAA0753_000001" "g.6528131T>C" "" "{PMID:Summers 2017:28497568}" "" "c.769A>G" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000818278" "0" "90" "17" "6498374" "6498374" "subst" "0" "00000" "KIAA0753_000002" "g.6498374C>G" "" "{PMID:Summers 2017:28497568}" "" "c.2359-1G>C" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000865467" "0" "30" "17" "6515229" "6515229" "subst" "0.00104178" "02326" "KIAA0753_000009" "g.6515229G>A" "" "" "" "KIAA0753(NM_001351225.1):c.648+10C>T, KIAA0753(NM_014804.3):c.1545+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865468" "0" "30" "17" "6528090" "6528090" "subst" "0" "01943" "KIAA0753_000013" "g.6528090G>A" "" "" "" "KIAA0753(NM_014804.2):c.810C>T (p.Y270=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894211" "0" "30" "17" "6515341" "6515341" "subst" "0.00218646" "02326" "KIAA0753_000014" "g.6515341G>A" "" "" "" "KIAA0753(NM_014804.3):c.1443C>T (p.D481=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894212" "0" "30" "17" "6515474" "6515474" "subst" "2.16403E-5" "02326" "KIAA0753_000015" "g.6515474T>G" "" "" "" "KIAA0753(NM_014804.3):c.1316-6A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914956" "0" "50" "17" "6526201" "6526201" "subst" "7.73181E-5" "02326" "KIAA0753_000016" "g.6526201C>T" "" "" "" "KIAA0753(NM_014804.3):c.1104+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914957" "0" "30" "17" "6531919" "6531919" "subst" "0.00180036" "02326" "KIAA0753_000005" "g.6531919A>G" "" "" "" "KIAA0753(NM_014804.2):c.236T>C (p.V79A), KIAA0753(NM_014804.3):c.236T>C (p.V79A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926631" "0" "30" "17" "6499498" "6499498" "subst" "0.00264219" "02326" "KIAA0753_000017" "g.6499498G>A" "" "" "" "KIAA0753(NM_014804.3):c.2338C>T (p.R780C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969188" "0" "30" "17" "6524149" "6524149" "subst" "0.000471277" "01804" "KIAA0753_000018" "g.6524149T>C" "" "" "" "KIAA0753(NM_014804.2):c.1274A>G (p.(Gln425Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003589" "0" "50" "17" "6511743" "6511743" "subst" "0" "01804" "KIAA0753_000019" "g.6511743G>A" "" "" "" "KIAA0753(NM_014804.2):c.1754C>T (p.(Thr585Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003590" "0" "50" "17" "6513369" "6513369" "subst" "4.87484E-5" "01804" "KIAA0753_000020" "g.6513369G>A" "" "" "" "KIAA0753(NM_014804.2):c.1657C>T (p.(Arg553Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055794" "0" "30" "17" "6498288" "6498290" "dup" "0" "01804" "KIAA0753_000021" "g.6498288_6498290dup" "" "" "" "KIAA0753(NM_014804.3):c.2440+2_2440+4dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055795" "0" "30" "17" "6499468" "6499468" "subst" "0" "01804" "KIAA0753_000022" "g.6499468C>A" "" "" "" "KIAA0753(NM_014804.3):c.2358+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055796" "0" "50" "17" "6526284" "6526284" "subst" "4.06663E-6" "01804" "KIAA0753_000023" "g.6526284C>T" "" "" "" "KIAA0753(NM_014804.3):c.1022G>A (p.(Arg341His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055797" "0" "50" "17" "6526292" "6526292" "subst" "0.000109796" "01804" "KIAA0753_000024" "g.6526292G>C" "" "" "" "KIAA0753(NM_014804.3):c.1014C>G (p.(Ser338Arg))" "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 KIAA0753 ## Count = 34 "{{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}}" "0000126480" "00010503" "90" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Arg257Gly)" "4" "0000126481" "00010503" "90" "2359" "-1" "2359" "-1" "c.2359-1G>C" "r.2359_2367del" "p.Lys787_Gln789del" "15i" "0000562832" "00010503" "90" "775" "0" "775" "0" "c.775C>T" "r.(?)" "p.(Gln259Ter)" "" "0000616773" "00010503" "30" "236" "0" "236" "0" "c.236T>C" "r.(?)" "p.(Val79Ala)" "" "0000623745" "00010503" "30" "2331" "0" "2331" "0" "c.2331C>T" "r.(?)" "p.(Ile777=)" "" "0000680987" "00010503" "50" "1088" "0" "1088" "0" "c.1088T>C" "r.(?)" "p.(Ile363Thr)" "" "0000692445" "00010503" "30" "2430" "0" "2430" "0" "c.2430A>G" "r.(?)" "p.(Glu810=)" "" "0000692446" "00010503" "30" "2419" "0" "2419" "0" "c.2419T>G" "r.(?)" "p.(Trp807Gly)" "" "0000726628" "00010503" "30" "1545" "10" "1545" "10" "c.1545+10C>T" "r.(=)" "p.(=)" "" "0000726629" "00010503" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Lys434=)" "" "0000760710" "00010503" "70" "970" "0" "970" "0" "c.970C>T" "r.(?)" "p.(Arg324*)" "" "0000791802" "00010503" "70" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Arg257Gly)" "" "0000791803" "00010503" "70" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Arg257Gly)" "" "0000791881" "00010503" "70" "2359" "-1" "2359" "-1" "c.2359-1G>C" "r.spl" "p.(?)" "" "0000791882" "00010503" "70" "2359" "-1" "2359" "-1" "c.2359-1G>C" "r.spl" "p.(?)" "" "0000808226" "00010503" "90" "2686" "0" "2686" "0" "c.2686C>T" "r.(?)" "p.(Gln896*)" "" "0000818275" "00010503" "90" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Arg257Gly)" "3" "0000818276" "00010503" "90" "2359" "-1" "2359" "-1" "c.2359-1G>C" "r.spl?" "p.?" "11i" "0000818277" "00010503" "90" "769" "0" "769" "0" "c.769A>G" "r.(?)" "p.(Arg257Gly)" "3" "0000818278" "00010503" "90" "2359" "-1" "2359" "-1" "c.2359-1G>C" "r.spl?" "p.?" "11i" "0000865467" "00010503" "30" "1545" "10" "1545" "10" "c.1545+10C>T" "r.(=)" "p.(=)" "" "0000865468" "00010503" "30" "810" "0" "810" "0" "c.810C>T" "r.(?)" "p.(Tyr270=)" "" "0000894211" "00010503" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(Asp481=)" "" "0000894212" "00010503" "30" "1316" "-6" "1316" "-6" "c.1316-6A>C" "r.(=)" "p.(=)" "" "0000914956" "00010503" "50" "1104" "1" "1104" "1" "c.1104+1G>A" "r.spl?" "p.?" "" "0000914957" "00010503" "30" "236" "0" "236" "0" "c.236T>C" "r.(?)" "p.(Val79Ala)" "" "0000926631" "00010503" "30" "2338" "0" "2338" "0" "c.2338C>T" "r.(?)" "p.(Arg780Cys)" "" "0000969188" "00010503" "30" "1274" "0" "1274" "0" "c.1274A>G" "r.(?)" "p.(Gln425Arg)" "" "0001003589" "00010503" "50" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Thr585Ile)" "" "0001003590" "00010503" "50" "1657" "0" "1657" "0" "c.1657C>T" "r.(?)" "p.(Arg553Cys)" "" "0001055794" "00010503" "30" "2440" "2" "2440" "4" "c.2440+2_2440+4dup" "r.spl?" "p.?" "" "0001055795" "00010503" "30" "2358" "10" "2358" "10" "c.2358+10G>T" "r.(=)" "p.(=)" "" "0001055796" "00010503" "50" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341His)" "" "0001055797" "00010503" "50" "1014" "0" "1014" "0" "c.1014C>G" "r.(?)" "p.(Ser338Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000078913" "0000126480" "0000078914" "0000126481" "0000360650" "0000760710" "0000378896" "0000791802" "0000378896" "0000791881" "0000378897" "0000791803" "0000378897" "0000791882" "0000389319" "0000818275" "0000389319" "0000818276" "0000389320" "0000818277" "0000389320" "0000818278"