### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IQSEC1) # 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}}" "IQSEC1" "IQ motif and Sec7 domain 1" "3" "p25.2" "unknown" "NC_000003.11" "UD_134753409247" "" "https://www.LOVD.nl/IQSEC1" "" "1" "29112" "9922" "610166" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/IQSEC1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-10-16 02:39:29" "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}}" "00025471" "IQSEC1" "transcript variant 1" "004" "NM_001134382.2" "" "NP_001127854.1" "" "" "" "-103" "7286" "3346" "13114617" "12938542" "00006" "2019-10-16 02:42:26" "" "" ## 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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06596" "IDDSSBA" "Intellectual developmental disorder with short stature and behavioral abnormalities" "AR" "618687" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "IQSEC1" "05611" "IQSEC1" "06596" ## 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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00266184" "" "" "" "4" "" "00006" "{PMID:Ansar 2019:31607425}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F" "" "Pakistan" "" "0" "" "" "" "F208PatIV2" "00266185" "" "" "00266184" "1" "" "00006" "{PMID:Ansar 2019:31607425}" "" "F" "" "Pakistan" "" "0" "" "" "" "F208PatIV6" "00266186" "" "" "" "4" "" "00006" "{PMID:Ansar 2019:31607425}" "5-generation family, 4 affected (4M), unaffected heterozygous carrier parents/relatives" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam2PatV-1" "00266187" "" "" "00266186" "1" "" "00006" "{PMID:Ansar 2019:31607425}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam2PatV-6" "00266188" "" "" "00266186" "1" "" "00006" "{PMID:Ansar 2019:31607425}" "" "M" "" "Saudi Arabia" "" "0" "" "" "" "Fam2PatV-8" "00314871" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "Trio34" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00266184" "05611" "00266185" "05611" "00266186" "05611" "00266187" "05611" "00266188" "05611" "00314871" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 05611, 06596 ## 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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000203961" "05611" "00266184" "00006" "Familial, autosomal recessive" "36y" "short stature (146cm), head circumference 51cm (<1 percentile); severe intellectual disability, developmental delay; aphasia; delayed motor milestones; no epilepsy; (mild) hypotonia; behaviour aggressive; low vision" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000203962" "05611" "00266185" "00006" "Familial, autosomal recessive" "23y" "short stature (150cm), head circumference 51cm (<1 percentile); severe intellectual disability, developmental delay; aphasia; delayed motor milestones; no epilepsy; (mild) hypotonia; behaviour aggressive; lower limbs weakness" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000203963" "05611" "00266186" "00006" "Familial, autosomal recessive" "6y" "short stature (120cm), head circumference 48cm (25th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour inattention and hyperactivity; MRI normal; multiple hyperpigmented café au lait spots in his lower back and upper thigh, truncal ataxia and ataxic gait with frequent falls" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000203964" "05611" "00266187" "00006" "Familial, autosomal recessive" "11y" "short stature (148cm), head circumference 53cm (50th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour aggressive, ADHD and hyperactivity; MRI normal; unsteady gait" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000203965" "05611" "00266188" "00006" "Familial, autosomal recessive" "6y" "short stature (119cm), head circumference 49cm (25th percentile); severe intellectual disability, developmental delay; speech few words; delayed motor milestones; (early on-set) epilepsy; hypotonia; behaviour inattention and hyperactivity; MRI normal; unsteady gait" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000238629" "00198" "00314871" "00006" "Unknown" "7y" "Overgrowth, dysmorphic features, mild developmental delays, and macrocephaly." "1y6m" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000267305" "00266184" "1" "00006" "00006" "2019-10-16 03:19:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267306" "00266185" "1" "00006" "00006" "2019-10-16 03:19:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000267307" "00266186" "1" "00006" "00006" "2019-10-16 03:19:26" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000267308" "00266187" "1" "00006" "00006" "2019-10-16 03:19:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000267309" "00266188" "1" "00006" "00006" "2019-10-16 03:19:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000316045" "00314871" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000267305" "IQSEC1" "0000267306" "IQSEC1" "0000267307" "IQSEC1" "0000267308" "IQSEC1" "0000267309" "IQSEC1" "0000316045" "ASXL2" "0000316045" "IQSEC1" ## 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}}" "0000003809" "3" "50" "3" "13047602" "13047602" "subst" "0" "00037" "chr3_000057" "g.13047602A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.13006102A>G" "" "VUS" "" "0000003810" "3" "50" "3" "13094397" "13094397" "subst" "0" "00037" "chr3_000058" "g.13094397T>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.13052897T>A" "" "VUS" "" "0000003811" "3" "50" "3" "13094806" "13094806" "subst" "0" "00037" "chr3_000059" "g.13094806A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.13053306A>G" "" "VUS" "" "0000289703" "0" "50" "3" "12942802" "12942802" "subst" "0" "01943" "IQSEC1_000002" "g.12942802C>T" "" "" "" "IQSEC1(NM_001134382.3):c.3026G>A (p.G1009D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12901303C>T" "" "VUS" "" "0000289704" "0" "10" "3" "12942577" "12942577" "subst" "0.00142723" "01943" "IQSEC1_000001" "g.12942577C>T" "" "" "" "IQSEC1(NM_001134382.3):c.3251G>A (p.G1084E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.12901078C>T" "" "benign" "" "0000598363" "3" "90" "3" "12977488" "12977488" "subst" "0" "00006" "IQSEC1_000003" "g.12977488G>A" "" "{PMID:Ansar 2019:31607425}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12935988G>A" "" "pathogenic (recessive)" "" "0000598364" "3" "90" "3" "12977488" "12977488" "subst" "0" "00006" "IQSEC1_000003" "g.12977488G>A" "" "{PMID:Ansar 2019:31607425}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12935988G>A" "" "pathogenic (recessive)" "" "0000598365" "3" "90" "3" "12977554" "12977554" "subst" "1.27426E-5" "00006" "IQSEC1_000004" "g.12977554C>T" "" "{PMID:Ansar 2019:31607425}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12936054C>T" "" "pathogenic (recessive)" "" "0000598366" "3" "90" "3" "12977554" "12977554" "subst" "1.27426E-5" "00006" "IQSEC1_000004" "g.12977554C>T" "" "{PMID:Ansar 2019:31607425}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12936054C>T" "" "pathogenic (recessive)" "" "0000598367" "3" "90" "3" "12977554" "12977554" "subst" "1.27426E-5" "00006" "IQSEC1_000004" "g.12977554C>T" "" "{PMID:Ansar 2019:31607425}" "" "" "" "Germline" "yes" "" "0" "" "" "g.12936054C>T" "" "pathogenic (recessive)" "" "0000621177" "0" "50" "3" "12983294" "12983294" "subst" "0.000133525" "01943" "IQSEC1_000005" "g.12983294G>A" "" "" "" "IQSEC1(NM_001134382.3):c.95C>T (p.P32L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12941794G>A" "" "VUS" "" "0000654801" "0" "30" "3" "12942698" "12942700" "dup" "0" "01804" "IQSEC1_000006" "g.12942698_12942700dup" "" "" "" "IQSEC1(NM_001134382.2):c.3143_3144insACC (p.(His1047dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12901199_12901201dup" "" "likely benign" "" "0000654802" "0" "50" "3" "12957095" "12957095" "subst" "0.000142205" "01804" "IQSEC1_000007" "g.12957095G>A" "" "" "" "IQSEC1(NM_001134382.2):c.2159C>T (p.(Pro720Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.12915595G>A" "" "VUS" "" "0000698171" "1" "70" "3" "12942760" "12942760" "subst" "0.00444839" "00006" "IQSEC1_000008" "g.12942760C>G" "" "{PMID:Zhu 2015:25590979}" "" "3068G>C" "" "Germline" "" "" "0" "" "" "g.12901261C>G" "" "likely pathogenic (recessive)" "" "0000698217" "2" "70" "3" "12942833" "12942833" "subst" "0.000826832" "00006" "IQSEC1_000009" "g.12942833C>T" "" "{PMID:Zhu 2015:25590979}" "" "2995G>A" "" "Germline" "" "" "0" "" "" "g.12901333C>T" "" "likely pathogenic (recessive)" "" "0000800977" "0" "50" "3" "12954948" "12954948" "subst" "0" "02325" "IQSEC1_000010" "g.12954948G>C" "" "" "" "IQSEC1(NM_014869.8):c.2338C>G (p.L780V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800979" "0" "50" "3" "12977855" "12977855" "subst" "0.000335893" "02325" "IQSEC1_000011" "g.12977855C>T" "" "" "" "IQSEC1(NM_014869.8):c.703G>A (p.A235T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928709" "0" "50" "3" "12954923" "12954923" "subst" "1.30657E-5" "02325" "IQSEC1_000012" "g.12954923C>T" "" "" "" "IQSEC1(NM_014869.8):c.2358+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928710" "0" "50" "3" "12977333" "12977333" "subst" "2.13191E-5" "02325" "IQSEC1_000013" "g.12977333G>A" "" "" "" "IQSEC1(NM_014869.8):c.1225C>T (p.R409C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975574" "0" "30" "3" "12942557" "12942557" "subst" "0" "01804" "IQSEC1_000014" "g.12942557G>A" "" "" "" "IQSEC1(NM_001134382.3):c.3270C>T (p.(His1090His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993288" "0" "30" "3" "12942501" "12942501" "subst" "0" "01804" "IQSEC1_000015" "g.12942501C>T" "" "" "" "IQSEC1(NM_001134382.2):c.3326G>A (p.(Arg1109Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993289" "0" "30" "3" "12961945" "12961945" "subst" "0.000410276" "01804" "IQSEC1_000016" "g.12961945T>C" "" "" "" "IQSEC1(NM_001134382.2):c.2005A>G (p.(Ile669Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993290" "0" "50" "3" "12977451" "12977451" "subst" "0.000391261" "01804" "IQSEC1_000017" "g.12977451C>G" "" "" "" "IQSEC1(NM_001134382.2):c.1065G>C (p.(Glu355Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993291" "0" "50" "3" "12977686" "12977686" "subst" "0.000432759" "01804" "IQSEC1_000018" "g.12977686C>T" "" "" "" "IQSEC1(NM_001134382.2):c.830G>A (p.(Arg277His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033676" "0" "50" "3" "12942692" "12942700" "del" "0" "01804" "IQSEC1_000019" "g.12942692_12942700del" "" "" "" "IQSEC1(NM_001134382.3):c.3134_3142del (p.(His1045_His1047del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033677" "0" "30" "3" "12976987" "12976987" "subst" "0.00121898" "01804" "IQSEC1_000020" "g.12976987C>T" "" "" "" "IQSEC1(NM_001134382.3):c.1529G>A (p.(Arg510His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033678" "0" "50" "3" "12977366" "12977366" "subst" "3.43784E-5" "01804" "IQSEC1_000021" "g.12977366G>A" "" "" "" "IQSEC1(NM_001134382.3):c.1150C>T (p.(Arg384Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033679" "0" "50" "3" "12977981" "12977981" "subst" "1.22221E-5" "01804" "IQSEC1_000022" "g.12977981C>T" "" "" "" "IQSEC1(NM_001134382.3):c.535G>A (p.(Glu179Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051225" "0" "50" "3" "12977185" "12977185" "subst" "0.000101933" "01804" "IQSEC1_000023" "g.12977185T>G" "" "" "" "IQSEC1(NM_001134382.3):c.1331A>C (p.(Gln444Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051226" "0" "50" "3" "13008886" "13008886" "subst" "0" "01804" "IQSEC1_000024" "g.13008886C>T" "" "" "" "IQSEC1(NM_014869.8):c.65+1G>A" "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 IQSEC1 ## 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}}" "0000003809" "00025471" "50" "24" "-64237" "24" "-64237" "c.24-64237T>C" "r.(=)" "p.(=)" "" "0000003810" "00025471" "50" "23" "20095" "23" "20095" "c.23+20095A>T" "r.(=)" "p.(=)" "" "0000003811" "00025471" "50" "23" "19686" "23" "19686" "c.23+19686T>C" "r.(=)" "p.(=)" "" "0000289703" "00025471" "50" "3025" "0" "3025" "0" "c.3025G>A" "r.(?)" "p.(Ala1009Thr)" "" "0000289704" "00025471" "10" "3250" "0" "3250" "0" "c.3250G>A" "r.(?)" "p.(Val1084Met)" "" "0000598363" "00025471" "90" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Thr343Met)" "" "0000598364" "00025471" "90" "1028" "0" "1028" "0" "c.1028C>T" "r.(?)" "p.(Thr343Met)" "" "0000598365" "00025471" "90" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321Gln)" "" "0000598366" "00025471" "90" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321Gln)" "" "0000598367" "00025471" "90" "962" "0" "962" "0" "c.962G>A" "r.(?)" "p.(Arg321Gln)" "" "0000621177" "00025471" "50" "95" "0" "95" "0" "c.95C>T" "r.(?)" "p.(Pro32Leu)" "" "0000654801" "00025471" "30" "3140" "0" "3142" "0" "c.3140_3142dup" "r.(?)" "p.(His1047dup)" "" "0000654802" "00025471" "50" "2159" "0" "2159" "0" "c.2159C>T" "r.(?)" "p.(Pro720Leu)" "" "0000698171" "00025471" "70" "3067" "0" "3067" "0" "c.3067C>G" "r.(?)" "p.(Ala1023Pro)" "" "0000698217" "00025471" "70" "2994" "0" "2994" "0" "c.2994G>A" "r.(?)" "p.(Gly999Ser)" "" "0000800977" "00025471" "50" "2296" "0" "2296" "0" "c.2296C>G" "r.(?)" "p.(Leu766Val)" "" "0000800979" "00025471" "50" "661" "0" "661" "0" "c.661G>A" "r.(?)" "p.(Ala221Thr)" "" "0000928709" "00025471" "50" "2316" "5" "2316" "5" "c.2316+5G>A" "r.spl?" "p.?" "" "0000928710" "00025471" "50" "1183" "0" "1183" "0" "c.1183C>T" "r.(?)" "p.?" "" "0000975574" "00025471" "30" "3271" "0" "3271" "0" "c.3271C>T" "r.(?)" "p.?" "" "0000993288" "00025471" "30" "3327" "0" "3327" "0" "c.3327G>A" "r.(?)" "p.?" "" "0000993289" "00025471" "30" "2005" "0" "2005" "0" "c.2005A>G" "r.(?)" "p.?" "" "0000993290" "00025471" "50" "1065" "0" "1065" "0" "c.1065G>C" "r.(?)" "p.?" "" "0000993291" "00025471" "50" "830" "0" "830" "0" "c.830G>A" "r.(?)" "p.?" "" "0001033676" "00025471" "50" "3135" "0" "3143" "0" "c.3135_3143del" "r.?" "p.?" "" "0001033677" "00025471" "30" "1529" "0" "1529" "0" "c.1529G>A" "r.(?)" "p.?" "" "0001033678" "00025471" "50" "1150" "0" "1150" "0" "c.1150C>T" "r.(?)" "p.?" "" "0001033679" "00025471" "50" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.?" "" "0001051225" "00025471" "50" "1331" "0" "1331" "0" "c.1331A>C" "r.(?)" "p.?" "" "0001051226" "00025471" "50" "24" "-25521" "24" "-25521" "c.24-25521G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000000209" "0000003809" "0000000209" "0000003810" "0000000209" "0000003811" "0000267305" "0000598363" "0000267306" "0000598364" "0000267307" "0000598365" "0000267308" "0000598366" "0000267309" "0000598367" "0000316045" "0000698171" "0000316045" "0000698217"