### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KPTN) # 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}}" "KPTN" "kaptin (actin binding protein)" "19" "q13.3" "unknown" "NC_000019.9" "UD_136019823807" "" "http://www.LOVD.nl/KPTN" "" "1" "6404" "11133" "615620" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/KPTN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-03-20 22:11:15" "00006" "2025-11-13 13:04:16" ## 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}}" "00010746" "KPTN" "kaptin (actin binding protein)" "001" "NM_007059.2" "" "NP_008990.2" "" "" "" "-104" "1584" "1311" "47987521" "47978400" "" "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" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "04040" "MRT41" "mental retardation, autosomal recessive, type 41 (MRT-41)" "AR" "615637" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "KPTN" "00139" "KPTN" "04040" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00034387" "" "" "" "2" "" "01261" "Pajusalu Submitted" "Brother and sister with shared phenotype and genotype." "" "" "Estonia" "" "0" "yes" "" "Estonian" "" "00034505" "" "" "" "4" "" "00006" "{PMID:Baple 2014:24239382}, {DOI:Baple 2014:10.1016/j.ajhg.2013.10.001}" "2 nuclear families from extensive 11-generation pedigree with 4 affecteds (4M)" "M" "yes" "United States" "" "0" "" "" "Amish (Ohio)" "" "00034506" "" "" "" "5" "" "00006" "{PMID:Baple 2014:24239382}, {DOI:Baple 2014:10.1016/j.ajhg.2013.10.001}" "2 nuclear families from extensive 11-generation pedigree with 5 affecteds (3F, 2M)" "" "" "United States" "" "0" "" "" "Amish (Ohio)" "" "00464292" "" "" "" "1" "" "04409" "" "" "F" "no" "China" "" "" "" "" "Chinese" "R003" "00469053" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" "00469054" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00034387" "04040" "00034505" "00139" "00034506" "00139" "00464292" "00139" "00469053" "00198" "00469054" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04040 ## Count = 6 "{{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}}" "0000027783" "04040" "00034387" "01261" "Familial, autosomal recessive" "32y" "Macrocephaly\r\nIntellectual disability, moderate\r\nBehavioral abnormality\r\nSeizures" "" "" "" "" "" "" "" "" "" "" "" "0000027908" "00139" "00034505" "00006" "Familial, autosomal recessive" "" "see paper; neurodevelopmental delay, global developmental delay, macrocephaly with frontal bossing,\r\nhigh levels of anxiety, seizures, craniosynostosis, recurrent pneumonia, sple-nomegally" "" "" "" "" "" "" "" "" "" "" "" "0000027909" "00139" "00034506" "00006" "Familial, autosomal recessive" "" "see paper; neurodevelopmental delay, global developmental delay, macrocephaly with frontal bossing, high levels of anxiety, seizures, craniosynostosis, recurrent pneumonia, sple-nomegally" "" "" "" "" "" "" "" "" "" "" "" "0000350355" "00139" "00464292" "04409" "Familial, autosomal recessive" "05y02m" "mental retardation, speech delay, and diabetes mellitus type 1" "" "" "" "" "" "" "" "" "mental retardation" "mental retardation" "" "0000354206" "00198" "00469053" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" "0000354207" "00198" "00469054" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034454" "00034387" "1" "01261" "01261" "2015-03-17 09:35:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000034576" "00034505" "1" "00006" "00006" "2015-03-20 22:22:19" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034577" "00034506" "1" "00006" "00006" "2015-03-20 22:33:57" "" "" "SEQ" "DNA" "" "" "0000465923" "00464292" "1" "04409" "04409" "2025-02-28 15:58:51" "" "" "SEQ-NG-RNA" "RNA" "whole blood" "" "0000470721" "00469053" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000470722" "00469054" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000034454" "KPTN" "0000034576" "KPTN" "0000034577" "KPTN" "0000465923" "KPTN" ## 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 = 31 "{{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}}" "0000061468" "3" "70" "19" "47983599" "47983599" "dup" "0" "01261" "KPTN_000001" "g.47983599dup" "" "Pajusalu et al., submitted" "" "" "" "Germline" "yes" "" "0" "" "" "g.47480342dup" "" "likely pathogenic" "" "0000061669" "3" "90" "19" "47983131" "47983131" "subst" "4.89149E-5" "00006" "KPTN_000002" "g.47983131G>T" "" "{PMID:Baple 2014:24239382}, {DOI:Baple 2014:10.1016/j.ajhg.2013.10.001}, {OMIM615620:0001}" "" "" "homozygosity mapping, whole exome sequencing" "Germline" "yes" "rs374298314" "0" "" "" "g.47479874G>T" "" "pathogenic" "" "0000061670" "1" "90" "19" "47983131" "47983131" "subst" "4.89149E-5" "00006" "KPTN_000002" "g.47983131G>T" "" "{PMID:Baple 2014:24239382}, {DOI:Baple 2014:10.1016/j.ajhg.2013.10.001}, {OMIM615620:0001}" "" "" "" "Germline" "yes" "rs374298314" "0" "" "" "g.47479874G>T" "" "pathogenic" "" "0000061671" "2" "90" "19" "47983179" "47983196" "dup" "0" "00006" "KPTN_000003" "g.47983179_47983196dup" "" "{PMID:Baple 2014:24239382}, {DOI:Baple 2014:10.1016/j.ajhg.2013.10.001}, {OMIM615620:0002}" "" "" "" "Germline" "yes" "rs587777148" "0" "" "" "g.47479922_47479939dup" "" "pathogenic" "" "0000290503" "0" "50" "19" "47983590" "47983590" "subst" "0" "01943" "KPTN_000007" "g.47983590T>C" "" "" "" "KPTN(NM_007059.3):c.674A>G (p.Y225C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47480333T>C" "" "VUS" "" "0000290504" "0" "30" "19" "47980182" "47980182" "subst" "3.84084E-5" "01943" "KPTN_000004" "g.47980182G>A" "" "" "" "KPTN(NM_007059.3):c.877C>T (p.R293W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47476925G>A" "" "likely benign" "" "0000326668" "0" "50" "19" "47983179" "47983196" "dup" "0" "01804" "KPTN_000005" "g.47983179_47983196dup" "" "" "" "KPTN(NM_007059.2):c.714_731dupTCTGCAGATGTGGTCGGT (p.(Leu239_Val244dup)), KPTN(NM_007059.3):c.714_731dupTCTGCAGATGTGGTCGGT (p.M241_Q246dup), KPTN(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47479922_47479939dup" "" "VUS" "" "0000326670" "0" "50" "19" "47983579" "47983579" "subst" "0" "01804" "KPTN_000006" "g.47983579C>A" "" "" "" "KPTN(NM_007059.2):c.685G>T (p.(Ala229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47480322C>A" "" "VUS" "" "0000341379" "0" "50" "19" "47980074" "47980074" "subst" "3.53818E-5" "02327" "KPTN_000010" "g.47980074C>G" "" "" "" "KPTN(NM_007059.4):c.985G>C (p.A329P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47476817C>G" "" "VUS" "" "0000341447" "0" "30" "19" "47987291" "47987291" "subst" "0" "02327" "KPTN_000011" "g.47987291C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47484034C>A" "" "likely benign" "" "0000567850" "0" "30" "19" "47978716" "47978716" "subst" "4.0791E-5" "01804" "KPTN_000012" "g.47978716T>C" "" "" "" "KPTN(NM_007059.2):c.1268A>G (p.(Glu423Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47475459T>C" "" "likely benign" "" "0000567851" "0" "30" "19" "47978735" "47978735" "subst" "0.000105977" "01943" "KPTN_000013" "g.47978735G>A" "" "" "" "KPTN(NM_007059.3):c.1249C>T (p.R417C), KPTN(NM_007059.4):c.1249C>T (p.R417C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47475478G>A" "" "likely benign" "" "0000567852" "0" "50" "19" "47978735" "47978735" "subst" "0.000105977" "02325" "KPTN_000013" "g.47978735G>A" "" "" "" "KPTN(NM_007059.3):c.1249C>T (p.R417C), KPTN(NM_007059.4):c.1249C>T (p.R417C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47475478G>A" "" "VUS" "" "0000567853" "0" "30" "19" "47979936" "47979936" "subst" "0.000516409" "01943" "KPTN_000014" "g.47979936C>T" "" "" "" "KPTN(NM_007059.3):c.1035G>A (p.S345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47476679C>T" "" "likely benign" "" "0000567854" "0" "30" "19" "47980152" "47980152" "subst" "0" "01943" "KPTN_000015" "g.47980152C>T" "" "" "" "KPTN(NM_007059.3):c.907G>A (p.G303S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47476895C>T" "" "likely benign" "" "0000567855" "0" "50" "19" "47981003" "47981003" "subst" "6.90378E-5" "01943" "KPTN_000016" "g.47981003C>T" "" "" "" "KPTN(NM_007059.3):c.823G>A (p.V275M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47477746C>T" "" "VUS" "" "0000567857" "0" "50" "19" "47987230" "47987230" "subst" "0.00135923" "01943" "KPTN_000018" "g.47987230C>T" "" "" "" "KPTN(NM_007059.3):c.188G>A (p.R63Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47483973C>T" "" "VUS" "" "0000617726" "0" "70" "19" "47980964" "47980964" "dup" "0" "02327" "KPTN_000020" "g.47980964dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47477707dup" "" "likely pathogenic" "" "0000617727" "0" "70" "19" "47983179" "47983196" "dup" "0" "01943" "KPTN_000005" "g.47983179_47983196dup" "" "" "" "KPTN(NM_007059.2):c.714_731dupTCTGCAGATGTGGTCGGT (p.(Leu239_Val244dup)), KPTN(NM_007059.3):c.714_731dupTCTGCAGATGTGGTCGGT (p.M241_Q246dup), KPTN(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47479922_47479939dup" "" "likely pathogenic" "" "0000658616" "0" "30" "19" "47979846" "47979846" "subst" "5.72185E-5" "01943" "KPTN_000021" "g.47979846G>A" "" "" "" "KPTN(NM_007059.3):c.1125C>T (p.T375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47476589G>A" "" "likely benign" "" "0000681465" "0" "30" "19" "47979803" "47979803" "subst" "1.23276E-5" "01943" "KPTN_000022" "g.47979803C>G" "" "" "" "KPTN(NM_007059.3):c.1168G>C (p.V390L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681466" "0" "90" "19" "47983179" "47983196" "dup" "0" "02325" "KPTN_000003" "g.47983179_47983196dup" "" "" "" "KPTN(NM_007059.2):c.714_731dupTCTGCAGATGTGGTCGGT (p.(Leu239_Val244dup)), KPTN(NM_007059.3):c.714_731dupTCTGCAGATGTGGTCGGT (p.M241_Q246dup), KPTN(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681467" "0" "90" "19" "47983600" "47983600" "subst" "0" "02325" "KPTN_000023" "g.47983600G>A" "" "" "" "KPTN(NM_007059.4):c.664C>T (p.Q222*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926917" "0" "50" "19" "47980074" "47980074" "subst" "3.53818E-5" "02326" "KPTN_000010" "g.47980074C>G" "" "" "" "KPTN(NM_007059.4):c.985G>C (p.A329P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926918" "0" "90" "19" "47983179" "47983196" "dup" "0" "02326" "KPTN_000003" "g.47983179_47983196dup" "" "" "" "KPTN(NM_007059.2):c.714_731dupTCTGCAGATGTGGTCGGT (p.(Leu239_Val244dup)), KPTN(NM_007059.3):c.714_731dupTCTGCAGATGTGGTCGGT (p.M241_Q246dup), KPTN(N...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000969821" "0" "50" "19" "47979845" "47979845" "subst" "0.000134894" "02325" "KPTN_000024" "g.47979845C>T" "" "" "" "KPTN(NM_007059.4):c.1126G>A (p.G376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969822" "0" "50" "19" "47987412" "47987412" "subst" "7.48674E-5" "02325" "KPTN_000025" "g.47987412C>T" "" "" "" "KPTN(NM_007059.4):c.6G>A (p.M2I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001029709" "3" "70" "19" "47980963" "47980963" "subst" "0" "04409" "KPTN_000026" "g.47980963G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0001043070" "0" "30" "19" "47979779" "47979779" "subst" "0" "01804" "KPTN_000027" "g.47979779C>T" "" "" "" "KPTN(NM_007059.4):c.1182+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058843" "0" "90" "19" "47984018" "47984019" "dup" "0" "00006" "KPTN_000028" "g.47984018_47984019dup" "" "{PMID:Retterer 2016:26633542}" "" "597_598dupTA" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.47480761_47480762dup" "" "pathogenic" "" "0001058844" "0" "90" "19" "47986551" "47986551" "subst" "6.90602E-5" "00006" "KPTN_000029" "g.47986551C>T" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.47483294C>T" "" "pathogenic" "" ## 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 KPTN ## Count = 31 "{{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}}" "0000061468" "00010746" "70" "665" "0" "665" "0" "c.665dup" "r.(?)" "p.(Ser223GlufsTer50)" "7" "0000061669" "00010746" "90" "776" "0" "776" "0" "c.776C>A" "r.(?)" "p.(Ser259*)" "8" "0000061670" "00010746" "90" "776" "0" "776" "0" "c.776C>A" "r.(?)" "p.(Ser259*)" "8" "0000061671" "00010746" "90" "714" "0" "731" "0" "c.714_731dup" "r.(?)" "p.(Glu240_Leu245dup)" "8" "0000290503" "00010746" "50" "674" "0" "674" "0" "c.674A>G" "r.(?)" "p.(Tyr225Cys)" "" "0000290504" "00010746" "30" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293Trp)" "" "0000326668" "00010746" "50" "714" "0" "731" "0" "c.714_731dup" "r.(?)" "p.(Met241_Gln246dup)" "" "0000326670" "00010746" "50" "685" "0" "685" "0" "c.685G>T" "r.(?)" "p.(Ala229Ser)" "" "0000341379" "00010746" "50" "985" "0" "985" "0" "c.985G>C" "r.(?)" "p.(Ala329Pro)" "" "0000341447" "00010746" "30" "127" "0" "127" "0" "c.127G>T" "r.(?)" "p.(Ala43Ser)" "" "0000567850" "00010746" "30" "1268" "0" "1268" "0" "c.1268A>G" "r.(?)" "p.(Glu423Gly)" "" "0000567851" "00010746" "30" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Cys)" "" "0000567852" "00010746" "50" "1249" "0" "1249" "0" "c.1249C>T" "r.(?)" "p.(Arg417Cys)" "" "0000567853" "00010746" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(Ser345=)" "" "0000567854" "00010746" "30" "907" "0" "907" "0" "c.907G>A" "r.(?)" "p.(Gly303Ser)" "" "0000567855" "00010746" "50" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Val275Met)" "" "0000567857" "00010746" "50" "188" "0" "188" "0" "c.188G>A" "r.(?)" "p.(Arg63Gln)" "" "0000617726" "00010746" "70" "862" "0" "862" "0" "c.862dup" "r.(?)" "p.(Arg288ProfsTer9)" "" "0000617727" "00010746" "70" "714" "0" "731" "0" "c.714_731dup" "r.(?)" "p.(Met241_Gln246dup)" "" "0000658616" "00010746" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Thr375=)" "" "0000681465" "00010746" "30" "1168" "0" "1168" "0" "c.1168G>C" "r.(?)" "p.(Val390Leu)" "" "0000681466" "00010746" "90" "714" "0" "731" "0" "c.714_731dup" "r.(?)" "p.(Met241_Gln246dup)" "" "0000681467" "00010746" "90" "664" "0" "664" "0" "c.664C>T" "r.(?)" "p.(Gln222Ter)" "" "0000926917" "00010746" "50" "985" "0" "985" "0" "c.985G>C" "r.(?)" "p.(Ala329Pro)" "" "0000926918" "00010746" "90" "714" "0" "731" "0" "c.714_731dup" "r.(?)" "p.(Met241_Gln246dup)" "" "0000969821" "00010746" "50" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Gly376Arg)" "" "0000969822" "00010746" "50" "6" "0" "6" "0" "c.6G>A" "r.(?)" "p.(Met2Ile)" "" "0001029709" "00010746" "70" "863" "0" "863" "0" "c.863G>A" "r.[863G>A;863_864ins863+1_864-1]" "p.[Arg288Gln;Arg288Glnfs*2]" "9" "0001043070" "00010746" "30" "1182" "10" "1182" "10" "c.1182+10G>A" "r.(=)" "p.(=)" "" "0001058843" "00010746" "90" "597" "0" "598" "0" "c.597_598dup" "r.(?)" "p.(Ser200IlefsTer55)" "" "0001058844" "00010746" "90" "394" "1" "394" "1" "c.394+1G>A" "r.spl" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000034454" "0000061468" "0000034576" "0000061669" "0000034577" "0000061670" "0000034577" "0000061671" "0000465923" "0001029709" "0000470721" "0001058843" "0000470722" "0001058844"