### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SIX1) # 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}}" "SIX1" "SIX homeobox 1" "14" "q23.1" "unknown" "NG_008231.1" "UD_132119032464" "" "https://www.LOVD.nl/SIX1" "" "1" "10887" "6495" "601205" "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/SIX1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-23 13:57:05" "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}}" "00018952" "SIX1" "SIX homeobox 1" "001" "NM_005982.3" "" "NP_005973.1" "" "" "" "-248" "2439" "855" "61116155" "61111417" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00655" "BOR1" "branchiootorenal syndrome, with/without cataract, type 1 (BOR-1)" "AD" "113650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00949" "craniosynost." "craniosynostosis, nonspecific" "AR" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00989" "BOS3" "branchiootic syndrome, type 3" "AD" "608389" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-23 14:00:37" "00990" "DFNA23" "deafness, autosomal dominant, type 23 (DFNA-23)" "AD" "605192" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05862" "kidney disease" "kidney disease" "" "" "" "" "" "00006" "2020-10-25 09:21:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "SIX1" "00655" "SIX1" "00989" "SIX1" "00990" ## Individuals ## Do not remove or alter this header ## ## Count = 26 "{{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}}" "00285085" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "France" "" "0" "" "" "" "162" "00285086" "" "" "" "2" "" "00004" "{PMID:Weber 2006:16971658}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier mother" "" "" "" "" "0" "" "" "" "GDA3/4" "00285087" "" "" "" "1" "" "00004" "{PMID:Krug 2011:21280147}" "" "" "" "France" "" "0" "" "" "" "1226" "00285088" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}" "" "" "" "" "" "0" "" "" "" "" "00285089" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301554}, {PMID:Salam 2000:10777717}, {PMID:Ruf 2004:15141091}, {PMID:Patrick 2009:19497856}" "" "" "" "" "" "0" "" "" "" "" "00285090" "" "" "" "1" "" "00004" "{PMID:Ruf 2003:12843324}, {PMID:Smith 1993:20301554}, {PMID:Ruf 2004:15141091}, {PMID:Patrick 2009:19497856}" "" "" "" "" "" "0" "" "" "" "" "00285091" "" "" "" "1" "" "00004" "{PMID:Shearer 1993:20301607}, {PMID:Mosrati 2011:21700001}" "" "" "" "" "" "0" "" "" "" "" "00285092" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Sanggaard 2007:17637804}" "" "" "" "" "" "0" "" "" "" "" "00285093" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Kochhar 2008:18330911}, {PMID:Patrick 2009:19497856}" "" "" "" "" "" "0" "" "" "" "" "00285094" "" "" "" "1" "" "00004" "{PMID:Kochhar 2008:18330911}" "" "" "" "" "" "0" "" "" "" "" "00285095" "" "" "" "1" "" "00004" "{PMID:Iglesias 2014:24901346}" "" "" "" "" "" "0" "" "" "" "" "00285096" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Ruf 2004:15141091}, {PMID:Patrick 2009:19497856}" "" "" "" "" "" "0" "" "" "" "" "00285097" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Kochhar 2008:18330911}, {PMID:Patrick 2009:19497856}" "" "" "" "" "" "0" "" "" "" "" "00285098" "" "" "" "1" "" "00004" "{PMID:Kochhar 2008:18330911}" "" "" "" "" "" "0" "" "" "" "" "00285099" "" "" "" "1" "" "00004" "{PMID:Smith 1993:20301554}, {PMID:Kochhar 2008:18330911}, {PMID:Patrick 2009:19497856}" "" "" "" "" "" "0" "" "" "" "" "00316074" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "BO5" "00387676" "" "" "" "1" "" "00000" "{PMID:Zanolli 2020:32141364}" "individual ID not present in paper, consecutive numbers given" "?" "" "Chile" "" "0" "" "" "" "75" "00399853" "" "" "" "1" "" "00006" "{PMID:Calpena 2022:33436522}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "Fam1Pat7081" "00399854" "" "" "" "1" "" "00006" "{PMID:Calpena 2022:33436522}" "2-generation family, 1 affected, unaffected heterozygous carrier father" "M" "" "" "" "0" "" "" "" "Fam2Pat163567" "00399855" "" "" "" "6" "" "00006" "{PMID:Calpena 2022:33436522}" "4-generation family, 6 affected (2F, 4M), affected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam3PatF8566-1 (twin 1)" "00399856" "" "" "00399855" "1" "" "00006" "{PMID:Calpena 2022:33436522}" "twin brother" "M" "" "" "" "0" "" "" "" "Fam3PatF8552-1 (twin 2)" "00399857" "" "" "" "4" "" "00006" "{PMID:Calpena 2022:33436522}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "Fam4PatL112-1" "00399858" "" "" "" "1" "" "00006" "{PMID:Calpena 2022:33436522}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "F" "" "" "" "0" "" "" "Asia" "Fam5Pat5692" "00399859" "" "" "" "1" "" "00006" "{PMID:Calpena 2022:33436522}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "Fam6Pat1140" "00399860" "" "" "" "1" "" "00006" "{PMID:Calpena 2022:33436522}" "2-generation family, affected son/father" "M" "" "" "" "0" "" "" "" "Fam7Pat4531" "00399861" "" "" "" "2" "" "00006" "{PMID:Krug 2011:21280147}" "2-generation family, affected father/son" "M" "" "France" "" "0" "" "" "" "714/715" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00285085" "00198" "00285086" "00198" "00285087" "00198" "00285088" "00198" "00285089" "00198" "00285090" "00198" "00285091" "00198" "00285092" "00198" "00285093" "00198" "00285094" "00198" "00285095" "00198" "00285096" "00198" "00285097" "00198" "00285098" "00198" "00285099" "00198" "00316074" "05862" "00387676" "04214" "00399853" "00949" "00399854" "00949" "00399855" "00949" "00399856" "00949" "00399857" "00949" "00399858" "00949" "00399859" "00949" "00399860" "00949" "00399861" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00655, 00949, 00989, 00990, 04214, 05862 ## Count = 26 "{{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}}" "0000217173" "00198" "00285085" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "branchio-otic syndrome, renal" "" "0000217174" "00198" "00285086" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "renal hypodysplasia" "" "0000217175" "00198" "00285087" "00008" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "atypical branchio-otic syndrome, renal" "" "0000217176" "00198" "00285088" "00008" "Unknown" "" "hearing loss; microtia; branchial cysts; CNS; orofacial malformations including celft lip and palate; micrognathia; vesicoureteric reflux; growth retardation; developmental delay; mild-moderate hearing loss; ear pits" "" "" "" "" "" "" "" "" "type 3" "Branchio-otic syndrome" "" "0000217177" "00198" "00285089" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome" "" "0000217178" "00198" "00285090" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome" "" "0000217179" "00198" "00285091" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing impairment" "" "0000217180" "00198" "00285092" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000217181" "00198" "00285093" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000217182" "00198" "00285094" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000217183" "00198" "00285095" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000217184" "00198" "00285096" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome" "" "0000217185" "00198" "00285097" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000217186" "00198" "00285098" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000217187" "00198" "00285099" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000239821" "05862" "00316074" "00006" "Unknown" "" "branchial defect, deafness" "" "" "" "" "" "" "" "" "" "" "" "0000281239" "04214" "00387676" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "Microphthalmia anophthalmia coloboma spectrum" "Microphthalmia anophthalmia coloboma spectrum" "" "0000292893" "00949" "00399853" "00006" "Isolated (sporadic)" "" "see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); speech/language delay, ear pits/tags, unilateral neck sinus, sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000292894" "00949" "00399854" "00006" "Familial" "" "see paper; ..., craniosynostosis; no branchio-otic syndrome; affected sutures sgittal; borderline short stature, mild anteverted nares" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000292895" "00949" "00399855" "00006" "Familial" "" "see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); branchial fistula" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000292896" "00949" "00399856" "00006" "Familial" "" "see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures coronal (left, right), sagittal; branchial fistula, restricted growth, posterior urethral valves" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000292897" "00949" "00399857" "00006" "Familial" "" "see paper; ..., craniosynostosis; severe branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right); mild conductive hearing loss, unilateral branchial cyst/fistula" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000292898" "00949" "00399858" "00006" "Familial" "" "see paper; ..., craniosynostosis; no branchio-otic syndrome; affected sutures sgittal, lambdoid (left, right)" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000292899" "00949" "00399859" "00006" "Isolated (sporadic)" "" "see paper; ..., craniosynostosis; mild branchio-otic syndrome; affected sutures sgittal; preauricular pits" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000292900" "00949" "00399860" "00006" "Familial" "" "see paper; ..., craniosynostosis; mild branchio-otic syndrome; affected sutures sgittal; occult bilateral branchial cysts" "" "" "" "" "" "" "" "" "" "craniosynostosis" "" "0000292901" "00198" "00399861" "00006" "Familial" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "branchio-otic syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 26 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000286235" "00285085" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286236" "00285086" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286237" "00285087" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2022-01-23 15:00:23" "SEQ" "DNA" "" "" "0000286238" "00285088" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286239" "00285089" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286240" "00285090" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286241" "00285091" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286242" "00285092" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286243" "00285093" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286244" "00285094" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286245" "00285095" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286246" "00285096" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286247" "00285097" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286248" "00285098" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286249" "00285099" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000317256" "00316074" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000388902" "00387676" "1" "00000" "03840" "2021-10-29 23:13:01" "" "" "SEQ-NG" "DNA" "blood" "targeted sequencing" "0000401096" "00399853" "1" "00006" "00006" "2022-01-23 14:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401097" "00399854" "1" "00006" "00006" "2022-01-23 14:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401098" "00399855" "1" "00006" "00006" "2022-01-23 14:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401099" "00399856" "1" "00006" "00006" "2022-01-23 14:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401100" "00399857" "1" "00006" "00006" "2022-01-23 14:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401101" "00399858" "1" "00006" "00006" "2022-01-23 14:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401102" "00399859" "1" "00006" "00006" "2022-01-23 14:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401103" "00399860" "1" "00006" "00006" "2022-01-23 14:40:45" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000401104" "00399861" "1" "00006" "00006" "2022-01-23 14:56:01" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000286235" "SIX1" "0000286236" "SIX1" "0000286237" "SIX1" "0000286238" "SIX1" "0000286239" "SIX1" "0000286240" "SIX1" "0000286241" "SIX1" "0000286242" "SIX1" "0000286243" "SIX1" "0000286244" "SIX1" "0000286245" "SIX1" "0000286246" "SIX1" "0000286247" "SIX1" "0000286248" "SIX1" "0000286249" "SIX1" "0000317256" "FAT1" "0000317256" "SCRIB" "0000317256" "SIX1" "0000388902" "SIX1" "0000401104" "SIX1" ## 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 = 56 "{{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}}" "0000308159" "0" "30" "14" "61113278" "61113278" "subst" "0.000356344" "01943" "SIX1_000001" "g.61113278T>A" "" "" "" "SIX1(NM_005982.3):c.578A>T (p.N193I, p.(Asn193Ile)), SIX1(NM_005982.4):c.578A>T (p.N193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60646560T>A" "" "likely benign" "" "0000308160" "0" "90" "14" "61115844" "61115844" "subst" "0" "01943" "SIX1_000002" "g.61115844G>A" "" "" "" "SIX1(NM_005982.3):c.64C>T (p.Q22*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60649126G>A" "" "pathogenic" "" "0000341738" "0" "70" "14" "61115574" "61115574" "subst" "0" "02327" "SIX1_000005" "g.61115574G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60648856G>C" "" "likely pathogenic" "" "0000343639" "0" "30" "14" "61113278" "61113278" "subst" "0.000356344" "02327" "SIX1_000001" "g.61113278T>A" "" "" "" "SIX1(NM_005982.3):c.578A>T (p.N193I, p.(Asn193Ile)), SIX1(NM_005982.4):c.578A>T (p.N193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60646560T>A" "" "likely benign" "" "0000345098" "0" "70" "14" "61115534" "61115534" "subst" "0" "02327" "SIX1_000004" "g.61115534T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60648816T>A" "" "likely pathogenic" "" "0000348517" "0" "50" "14" "61115895" "61115895" "subst" "8.47666E-6" "02327" "SIX1_000008" "g.61115895G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60649177G>C" "" "VUS" "" "0000350390" "0" "30" "14" "61115850" "61115850" "subst" "0" "02327" "SIX1_000007" "g.61115850C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60649132C>G" "" "likely benign" "" "0000350714" "0" "50" "14" "61115401" "61115401" "subst" "0" "02327" "SIX1_000003" "g.61115401G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60648683G>A" "" "VUS" "" "0000552752" "0" "90" "14" "61115522" "61115522" "subst" "4.06124E-6" "01943" "SIX1_000010" "g.61115522T>C" "" "" "" "SIX1(NM_005982.3):c.386A>G (p.Y129C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60648804T>C" "" "pathogenic" "" "0000552753" "0" "90" "14" "61115522" "61115522" "subst" "4.06124E-6" "02327" "SIX1_000010" "g.61115522T>C" "" "" "" "SIX1(NM_005982.3):c.386A>G (p.Y129C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60648804T>C" "" "pathogenic" "" "0000552754" "0" "30" "14" "61115746" "61115746" "subst" "0.000313079" "01943" "SIX1_000011" "g.61115746C>T" "" "" "" "SIX1(NM_005982.3):c.162G>A (p.A54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60649028C>T" "" "likely benign" "" "0000552755" "0" "50" "14" "61115753" "61115753" "subst" "0" "01943" "SIX1_000012" "g.61115753G>A" "" "" "" "SIX1(NM_005982.3):c.155C>T (p.A52V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60649035G>A" "" "VUS" "" "0000552756" "0" "50" "14" "61115754" "61115754" "subst" "0" "01943" "SIX1_000013" "g.61115754C>A" "" "" "" "SIX1(NM_005982.3):c.154G>T (p.A52S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60649036C>A" "" "VUS" "" "0000614984" "0" "70" "14" "61115511" "61115513" "del" "0" "02327" "SIX1_000014" "g.61115511_61115513del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60648793_60648795del" "" "likely pathogenic" "" "0000641977" "0" "50" "14" "61113110" "61113110" "subst" "0.000150388" "00004" "SIX1_000015" "g.61113110G>A" "" "{PMID:Krug 2011:21280147}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60646392G>A" "" "likely benign" "" "0000641978" "21" "59" "14" "61113177" "61113177" "subst" "0.000110511" "00004" "SIX1_000016" "g.61113177C>A" "" "{PMID:Weber 2006:16971658}" "" "" "" "Germline" "" "" "0" "" "" "g.60646459C>A" "" "likely benign" "" "0000641979" "1" "70" "14" "61115345" "61115345" "subst" "0" "00004" "SIX1_000017" "g.61115345T>A" "" "{PMID:Krug 2011:21280147}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60648627T>A" "" "likely pathogenic" "" "0000641980" "1" "77" "14" "61115347" "61115347" "subst" "0" "00004" "SIX1_000018" "g.61115347C>G" "" "{DB:DVD}, {PMID:Smith 1993:20301554}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648629C>G" "" "likely pathogenic" "" "0000641981" "1" "99" "14" "61115511" "61115513" "del" "0" "00004" "SIX1_000014" "g.61115511_61115513del" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Smith 1993:20301554}, {PMID:Salam 2000:10777717}, {PMID:Ruf 2004:15141091}, {PMID:Patrick 2009:19497856}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648793_60648795del" "" "pathogenic" "" "0000641982" "1" "99" "14" "61115522" "61115522" "subst" "4.06124E-6" "00004" "SIX1_000010" "g.61115522T>C" "" "{DB:DVD}, {PMID:Ruf 2003:12843324}, {PMID:Smith 1993:20301554}, {PMID:Ruf 2004:15141091}, {PMID:Patrick 2009:19497856}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648804T>C" "" "pathogenic" "" "0000641983" "1" "99" "14" "61115535" "61115535" "subst" "0" "00004" "SIX1_000019" "g.61115535C>T" "" "{DB:DVD}, {PMID:Shearer 1993:20301607}, {PMID:Mosrati 2011:21700001}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648817C>T" "" "pathogenic" "" "0000641984" "1" "99" "14" "61115544" "61115544" "subst" "0" "00004" "SIX1_000020" "g.61115544A>T" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Sanggaard 2007:17637804}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648826A>T" "" "pathogenic" "" "0000641985" "1" "99" "14" "61115574" "61115574" "subst" "0" "00004" "SIX1_000021" "g.61115574G>A" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Kochhar 2008:18330911}, {PMID:Patrick 2009:19497856}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648856G>A" "" "pathogenic" "" "0000641986" "1" "99" "14" "61115579" "61115579" "subst" "0" "00004" "SIX1_000022" "g.61115579C>T" "" "{DB:DVD}, {PMID:Kochhar 2008:18330911}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648861C>T" "" "pathogenic" "" "0000641987" "1" "99" "14" "61115580" "61115580" "subst" "0" "00004" "SIX1_000023" "g.61115580G>C" "" "{DB:DVD}, {PMID:Iglesias 2014:24901346}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648862G>C" "" "pathogenic" "" "0000641988" "1" "99" "14" "61115580" "61115580" "subst" "0" "00004" "SIX1_000024" "g.61115580G>A" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Ruf 2004:15141091}, {PMID:Patrick 2009:19497856}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648862G>A" "" "pathogenic" "" "0000641989" "1" "99" "14" "61115591" "61115591" "subst" "0" "00004" "SIX1_000025" "g.61115591A>C" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Kochhar 2008:18330911}, {PMID:Patrick 2009:19497856}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648873A>C" "" "pathogenic" "" "0000641990" "1" "99" "14" "61115690" "61115690" "subst" "0" "00004" "SIX1_000026" "g.61115690T>G" "" "{DB:DVD}, {PMID:Kochhar 2008:18330911}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60648972T>G" "" "pathogenic" "" "0000641991" "1" "99" "14" "61115858" "61115858" "subst" "0" "00004" "SIX1_000027" "g.61115858A>T" "" "{DB:DVD}, {PMID:Smith 1993:20301554}, {PMID:Kochhar 2008:18330911}, {PMID:Patrick 2009:19497856}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.60649140A>T" "" "pathogenic" "" "0000691682" "0" "50" "14" "61115390" "61115390" "subst" "0" "01943" "SIX1_000028" "g.61115390T>G" "" "" "" "SIX1(NM_005982.3):c.518A>C (p.K173T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691683" "0" "30" "14" "61115728" "61115728" "subst" "0.000329167" "01943" "SIX1_000029" "g.61115728G>C" "" "" "" "SIX1(NM_005982.3):c.180C>G (p.R60=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000699780" "0" "90" "14" "61115634" "61115635" "ins" "0" "00006" "SIX1_000030" "g.61115634_61115635insG" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.60648916_60648917insG" "" "pathogenic" "" "0000724815" "0" "50" "14" "61115542" "61115542" "subst" "0" "02327" "SIX1_000032" "g.61115542C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724816" "0" "50" "14" "61115631" "61115631" "subst" "0" "01943" "SIX1_000033" "g.61115631C>T" "" "" "" "SIX1(NM_005982.3):c.277G>A (p.V93M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806441" "0" "70" "14" "61115592" "61115592" "subst" "0" "02327" "SIX1_000034" "g.61115592C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000817700" "0" "70" "14" "0" "0" "" "0" "00000" "SERPINA1_000009" "g.?" "" "{PMID:Zanolli 2020:32141364}" "" "SIX1 arr[hg19] 14q22.2q23.2(54331256-63789238)x1 (including SIX1, OTX2)" "no protein change given, heterozygous" "Unknown" "?" "" "0" "" "" "g.?" "" "likely pathogenic" "" "0000834180" "0" "70" "14" "61115580" "61115580" "subst" "0" "00006" "SIX1_000024" "g.61115580G>A" "" "{PMID:Calpena 2022:33436522}" "" "" "" "De novo" "" "" "0" "" "" "g.60648862G>A" "" "likely pathogenic" "" "0000834181" "11" "70" "14" "61115456" "61115456" "subst" "0" "00006" "SIX1_000036" "g.61115456G>A" "" "{PMID:Calpena 2022:33436522}" "" "" "" "Germline" "" "" "0" "" "" "g.60648738G>A" "" "likely pathogenic" "" "0000834182" "21" "70" "14" "61115877" "61115877" "subst" "0" "00006" "SIX1_000039" "g.61115877G>A" "" "{PMID:Calpena 2022:33436522}" "" "" "" "Germline" "" "" "0" "" "" "g.60649159G>A" "" "likely pathogenic" "" "0000834183" "21" "70" "14" "61115877" "61115877" "subst" "0" "00006" "SIX1_000039" "g.61115877G>A" "" "{PMID:Calpena 2022:33436522}" "" "" "" "Germline" "" "" "0" "" "" "g.60649159G>A" "" "likely pathogenic" "" "0000834184" "21" "70" "14" "61115844" "61115844" "subst" "0" "00006" "SIX1_000002" "g.61115844G>A" "" "{PMID:Calpena 2022:33436522}" "" "" "" "Germline" "" "" "0" "" "" "g.60649126G>A" "" "likely pathogenic" "" "0000834185" "21" "70" "14" "61115535" "61115535" "subst" "0" "00006" "SIX1_000037" "g.61115535C>A" "" "{PMID:Calpena 2022:33436522}" "" "" "" "Germline" "" "" "0" "" "" "g.60648817C>A" "" "likely pathogenic" "" "0000834186" "0" "70" "14" "61115868" "61115868" "subst" "0" "00006" "SIX1_000038" "g.61115868C>G" "" "{PMID:Calpena 2022:33436522}" "" "" "" "De novo" "" "" "0" "" "" "g.60649150C>G" "" "likely pathogenic" "" "0000834187" "11" "70" "14" "61115395" "61115395" "subst" "0" "00006" "SIX1_000035" "g.61115395C>T" "" "{PMID:Calpena 2022:33436522}" "" "" "" "Germline" "" "" "0" "" "" "g.60648677C>T" "" "likely pathogenic" "" "0000834188" "11" "90" "14" "61115522" "61115522" "subst" "4.06124E-6" "00006" "SIX1_000010" "g.61115522T>C" "" "{PMID:Krug 2011:21280147}" "" "" "" "Germline" "" "" "0" "" "" "g.60648804T>C" "" "pathogenic (dominant)" "" "0000863598" "0" "30" "14" "61113241" "61113241" "subst" "8.61185E-5" "02326" "SIX1_000040" "g.61113241A>C" "" "" "" "SIX1(NM_005982.4):c.615T>G (p.P205=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891829" "0" "50" "14" "61115375" "61115375" "subst" "0" "02327" "SIX1_000041" "g.61115375C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000891830" "0" "30" "14" "61115700" "61115700" "subst" "4.06131E-6" "02327" "SIX1_000042" "g.61115700G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914204" "0" "30" "14" "61113278" "61113278" "subst" "0.000356344" "02326" "SIX1_000001" "g.61113278T>A" "" "" "" "SIX1(NM_005982.3):c.578A>T (p.N193I, p.(Asn193Ile)), SIX1(NM_005982.4):c.578A>T (p.N193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914205" "0" "70" "14" "61115540" "61115540" "subst" "0" "02327" "SIX1_000043" "g.61115540T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000914206" "0" "50" "14" "61115711" "61115711" "subst" "0" "02327" "SIX1_000044" "g.61115711A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925892" "0" "70" "14" "61115555" "61115555" "subst" "0" "02327" "SIX1_000045" "g.61115555G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967506" "0" "70" "14" "61115385" "61115385" "subst" "0" "02327" "SIX1_000046" "g.61115385G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000980943" "0" "30" "14" "61113278" "61113278" "subst" "0.000356344" "01804" "SIX1_000001" "g.61113278T>A" "" "" "" "SIX1(NM_005982.3):c.578A>T (p.N193I, p.(Asn193Ile)), SIX1(NM_005982.4):c.578A>T (p.N193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001030000" "0" "90" "14" "61115580" "61115580" "subst" "0" "03779" "SIX1_000024" "g.61115580G>A" "" "" "" "" "" "Unknown" "" "rs80356459" "0" "" "" "" "" "pathogenic" "" "0001040020" "0" "50" "14" "61113177" "61113177" "subst" "0.000110511" "02327" "SIX1_000016" "g.61113177C>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 SIX1 ## Count = 56 "{{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}}" "0000308159" "00018952" "30" "578" "0" "578" "0" "c.578A>T" "r.(?)" "p.(Asn193Ile)" "" "0000308160" "00018952" "90" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Gln22Ter)" "" "0000341738" "00018952" "70" "334" "0" "334" "0" "c.334C>G" "r.(?)" "p.(Arg112Gly)" "" "0000343639" "00018952" "30" "578" "0" "578" "0" "c.578A>T" "r.(?)" "p.(Asn193Ile)" "" "0000345098" "00018952" "70" "374" "0" "374" "0" "c.374A>T" "r.(?)" "p.(Glu125Val)" "" "0000348517" "00018952" "50" "13" "0" "13" "0" "c.13C>G" "r.(?)" "p.(Pro5Ala)" "" "0000350390" "00018952" "30" "58" "0" "58" "0" "c.58G>C" "r.(?)" "p.(Val20Leu)" "" "0000350714" "00018952" "50" "507" "0" "507" "0" "c.507C>T" "r.(?)" "p.(Ser169=)" "" "0000552752" "00018952" "90" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Tyr129Cys)" "" "0000552753" "00018952" "90" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Tyr129Cys)" "" "0000552754" "00018952" "30" "162" "0" "162" "0" "c.162G>A" "r.(?)" "p.(Ala54=)" "" "0000552755" "00018952" "50" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ala52Val)" "" "0000552756" "00018952" "50" "154" "0" "154" "0" "c.154G>T" "r.(?)" "p.(Ala52Ser)" "" "0000614984" "00018952" "70" "397" "0" "399" "0" "c.397_399del" "r.(?)" "p.(Glu133del)" "" "0000641977" "00018952" "50" "746" "0" "746" "0" "c.746C>T" "r.(?)" "p.(Pro249Leu)" "2" "0000641978" "00018952" "59" "679" "0" "679" "0" "c.679G>T" "r.(?)" "p.(Asp227Tyr)" "2" "0000641979" "00018952" "70" "560" "3" "560" "3" "c.560+3A>T" "r.spl?" "p.?" "1i" "0000641980" "00018952" "77" "560" "1" "560" "1" "c.560+1G>C" "r.spl?" "p.?" "1i" "0000641981" "00018952" "99" "397" "0" "399" "0" "c.397_399del" "r.(?)" "p.(Glu133del)" "1" "0000641982" "00018952" "99" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Tyr129Cys)" "1" "0000641983" "00018952" "99" "373" "0" "373" "0" "c.373G>A" "r.(?)" "p.(Glu125Lys)" "1" "0000641984" "00018952" "99" "364" "0" "364" "0" "c.364T>A" "r.(?)" "p.(Trp122Arg)" "1" "0000641985" "00018952" "99" "334" "0" "334" "0" "c.334C>T" "r.(?)" "p.(Arg112Cys)" "1" "0000641986" "00018952" "99" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110Gln)" "1" "0000641987" "00018952" "99" "328" "0" "328" "0" "c.328C>G" "r.(?)" "p.(Arg110Gly)" "1" "0000641988" "00018952" "99" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Trp)" "1" "0000641989" "00018952" "99" "317" "0" "317" "0" "c.317T>G" "r.(?)" "p.(Val106Gly)" "1" "0000641990" "00018952" "99" "218" "0" "218" "0" "c.218A>C" "r.(?)" "p.(His73Pro)" "1" "0000641991" "00018952" "99" "50" "0" "50" "0" "c.50T>A" "r.(?)" "p.(Val17Glu)" "1" "0000691682" "00018952" "50" "518" "0" "518" "0" "c.518A>C" "r.(?)" "p.(Lys173Thr)" "" "0000691683" "00018952" "30" "180" "0" "180" "0" "c.180C>G" "r.(?)" "p.(Arg60=)" "" "0000699780" "00018952" "90" "273" "0" "274" "0" "c.273_274insC" "r.(?)" "p.(Tyr92Leufs*62)" "" "0000724815" "00018952" "50" "366" "0" "366" "0" "c.366G>C" "r.(?)" "p.(Trp122Cys)" "" "0000724816" "00018952" "50" "277" "0" "277" "0" "c.277G>A" "r.(?)" "p.(Val93Met)" "" "0000806441" "00018952" "70" "316" "0" "316" "0" "c.316G>A" "r.(?)" "p.(Val106Met)" "" "0000817700" "00018952" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(?)" "" "0000834180" "00018952" "70" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Trp)" "" "0000834181" "00018952" "70" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Pro151Leu)" "" "0000834182" "00018952" "70" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Gln11Ter)" "" "0000834183" "00018952" "70" "31" "0" "31" "0" "c.31C>T" "r.(?)" "p.(Gln11Ter)" "" "0000834184" "00018952" "70" "64" "0" "64" "0" "c.64C>T" "r.(?)" "p.(Gln22Ter)" "" "0000834185" "00018952" "70" "373" "0" "373" "0" "c.373G>T" "r.(?)" "p.(Glu125Ter)" "" "0000834186" "00018952" "70" "40" "0" "40" "0" "c.40G>C" "r.(?)" "p.(Val14Leu)" "" "0000834187" "00018952" "70" "513" "0" "513" "0" "c.513G>A" "r.(?)" "p.(Trp171Ter)" "" "0000834188" "00018952" "90" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Tyr129Cys)" "1" "0000863598" "00018952" "30" "615" "0" "615" "0" "c.615T>G" "r.(?)" "p.(Pro205=)" "" "0000891829" "00018952" "50" "533" "0" "533" "0" "c.533G>A" "r.(?)" "p.(Arg178Lys)" "" "0000891830" "00018952" "30" "208" "0" "208" "0" "c.208C>T" "r.(?)" "p.(Leu70=)" "" "0000914204" "00018952" "30" "578" "0" "578" "0" "c.578A>T" "r.(?)" "p.(Asn193Ile)" "" "0000914205" "00018952" "70" "368" "0" "368" "0" "c.368A>G" "r.(?)" "p.(Asp123Gly)" "" "0000914206" "00018952" "50" "197" "0" "197" "0" "c.197T>G" "r.(?)" "p.(Leu66Arg)" "" "0000925892" "00018952" "70" "353" "0" "353" "0" "c.353C>T" "r.(?)" "p.(Pro118Leu)" "" "0000967506" "00018952" "70" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Arg175Trp)" "" "0000980943" "00018952" "30" "578" "0" "578" "0" "c.578A>T" "r.(?)" "p.(Asn193Ile)" "" "0001030000" "00018952" "90" "328" "0" "328" "0" "c.328C>T" "r.(?)" "p.(Arg110Trp)" "" "0001040020" "00018952" "50" "679" "0" "679" "0" "c.679G>T" "r.(?)" "p.(Asp227Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 26 "{{screeningid}}" "{{variantid}}" "0000286235" "0000641977" "0000286236" "0000641978" "0000286237" "0000641979" "0000286238" "0000641980" "0000286239" "0000641981" "0000286240" "0000641982" "0000286241" "0000641983" "0000286242" "0000641984" "0000286243" "0000641985" "0000286244" "0000641986" "0000286245" "0000641987" "0000286246" "0000641988" "0000286247" "0000641989" "0000286248" "0000641990" "0000286249" "0000641991" "0000317256" "0000699780" "0000388902" "0000817700" "0000401096" "0000834180" "0000401097" "0000834181" "0000401098" "0000834182" "0000401099" "0000834183" "0000401100" "0000834184" "0000401101" "0000834185" "0000401102" "0000834186" "0000401103" "0000834187" "0000401104" "0000834188"