### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SIX5) # 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}}" "SIX5" "SIX homeobox 5" "19" "q13.32" "unknown" "NG_012745.1" "UD_132118238175" "" "https://www.LOVD.nl/SIX5" "" "1" "10891" "147912" "600963" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/SIX5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-11-11 21:23:39" "00006" "2025-05-19 19:24:39" ## 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}}" "00018957" "SIX5" "SIX homeobox 5" "001" "NM_175875.4" "" "NP_787071.2" "" "" "" "-395" "2936" "2220" "46272497" "46268043" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01023" "BOR2" "branchiootorenal syndrome, type 2 (BOR-2)" "" "610896" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SIX5" "00139" "SIX5" "01023" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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}}" "00132985" "" "" "" "2" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "2-genertion family, heterozygous carrier mother" "M" "" "" "" "0" "" "" "" "29100090-FamDC7" "00285358" "" "" "" "1" "" "00004" "{PMID:Hwang 2014:24429398}" "" "" "" "" "" "0" "" "" "" "" "00285359" "" "" "" "1" "" "00004" "{PMID:Hoskins 2007:17357085}, {PMID:Smith 1993:20301554}, {PMID:Krug 2011:21280147}, {PMID:Hwang 2014:24429398}" "" "" "" "" "" "0" "" "" "" "" "00285360" "" "" "" "1" "" "00004" "{PMID:Hoskins 2007:17357085}, {PMID:Smith 1993:20301554}" "" "" "" "" "" "0" "" "" "" "" "00285361" "" "" "" "1" "" "00004" "{PMID:Hoskins 2007:17357085}, {PMID:Smith 1993:20301554}" "" "" "" "" "" "0" "" "" "" "" "00285362" "" "" "" "1" "" "00004" "{PMID:Hoskins 2007:17357085}, {PMID:Smith 1993:20301554}" "" "" "" "" "" "0" "" "" "" "" "00316147" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "fetus" "" "" "France" "" "0" "" "" "" "K29" "00324401" "" "" "" "1" "" "00006" "{PMID:Barrie 2019:31171569}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "" "Pat2" "00384520" "" "" "" "1" "" "01867" "" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "" "00465470" "" "" "" "1" "" "00006" "{PMID:Wu 2019:31581539}" "analysis 1291 cases hearing loss" "" "" "Taiwan" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00132985" "05342" "00285358" "00198" "00285359" "00198" "00285360" "00198" "00285361" "00198" "00285362" "00198" "00316147" "05342" "00324401" "00198" "00384520" "05103" "00465470" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 01023, 05086, 05103, 05342 ## Count = 10 "{{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}}" "0000105746" "05342" "00132985" "00006" "Unknown" "" "CAKUT, renal dysplasia left" "" "" "" "" "" "" "" "" "" "" "" "0000217219" "00198" "00285358" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Congenital anomalies of the kidney and urinary tract" "" "0000217220" "00198" "00285359" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000217221" "00198" "00285360" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000217222" "00198" "00285361" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000217223" "00198" "00285362" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000239894" "05342" "00316147" "00006" "Unknown" "" "bilateral kidney agenesis" "" "" "" "" "" "" "" "" "" "bilateral kidney agenesis" "" "0000242943" "00198" "00324401" "00006" "Isolated (sporadic)" "00y18m" "see paper; ..., typical facial features, microcephaly, wide nasal bridge; intrauterine/postnatal growth retardation; intellectual disability/developmental delay; hypotonia; no seizures and/or distinctive EEG abnormalities; feeding difficulties; skin changes (hemangioma; marble/dry skin); no antibody deficiency; genitourinary tract anomalies; no structural brain anomalies" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000278304" "05103" "00384520" "01867" "Familial, autosomal recessive" "" "nonsyndromic deafness" "" "" "" "" "" "" "" "" "" "nonsyndromic deafness" "" "0000351018" "05086" "00465470" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Branchio-oto-renal syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133819" "00132985" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000286508" "00285358" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286509" "00285359" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286510" "00285360" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286511" "00285361" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286512" "00285362" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000317329" "00316147" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000325591" "00324401" "1" "00006" "00006" "2020-12-11 14:09:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000385745" "00384520" "1" "01867" "00006" "2021-09-29 17:33:27" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000467119" "00465470" "1" "00006" "00006" "2025-05-19 19:24:16" "" "" "SEQ;SEQ-NG" "DNA" "" "213-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000133819" "SIX5" "0000286508" "SIX5" "0000286509" "SIX5" "0000286510" "SIX5" "0000286511" "SIX5" "0000286512" "SIX5" "0000317329" "SIX5" "0000325591" "WHSC1" "0000385745" "SIX5" ## 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 = 89 "{{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}}" "0000223247" "21" "90" "19" "46271428" "46271428" "subst" "0" "00006" "SIX5_000001" "g.46271428G>T" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.45768170G>T" "" "pathogenic" "" "0000265369" "0" "10" "19" "46275976" "46275976" "subst" "0.138262" "02330" "DMPK_000005" "g.46275976G>C" "" "" "" "DMPK(NM_001081563.2):c.1297C>G (p.L433V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45772718G>C" "" "benign" "" "0000267424" "0" "50" "19" "46275071" "46275071" "subst" "0.000794839" "02325" "DMPK_000004" "g.46275071C>A" "" "" "" "DMPK(NM_001081563.2):c.1490G>T (p.R497L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45771813C>A" "" "VUS" "" "0000267425" "0" "30" "19" "46273788" "46273788" "subst" "0.0006385" "02325" "DMPK_000002" "g.46273788G>A" "" "" "" "DMPK(NM_001081562.3):c.1829C>T (p.S610L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45770530G>A" "" "likely benign" "" "0000298215" "0" "10" "19" "46269313" "46269313" "subst" "0.852591" "02325" "SIX5_000007" "g.46269313G>C" "" "" "" "SIX5(NM_175875.5):c.1666C>G (p.L556V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766055G>C" "" "benign" "" "0000298216" "0" "10" "19" "46268902" "46268902" "subst" "0.3189" "02325" "SIX5_000003" "g.46268902C>T" "" "" "" "SIX5(NM_175875.4):c.2077G>A (p.V693M), SIX5(NM_175875.5):c.2077G>A (p.V693M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765644C>T" "" "benign" "" "0000302116" "0" "10" "19" "46269000" "46269000" "subst" "0.000640541" "02326" "SIX5_000005" "g.46269000G>T" "" "" "" "SIX5(NM_175875.4):c.1979C>A (p.A660E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765742G>T" "" "benign" "" "0000302117" "0" "10" "19" "46268902" "46268902" "subst" "0.3189" "02326" "SIX5_000003" "g.46268902C>T" "" "" "" "SIX5(NM_175875.4):c.2077G>A (p.V693M), SIX5(NM_175875.5):c.2077G>A (p.V693M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765644C>T" "" "benign" "" "0000308162" "0" "30" "19" "46269323" "46269323" "subst" "0.000669406" "01943" "SIX5_000008" "g.46269323C>T" "" "" "" "SIX5(NM_175875.4):c.1656G>A (p.T552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766065C>T" "" "likely benign" "" "0000308163" "0" "30" "19" "46269206" "46269206" "subst" "0.00085385" "01943" "SIX5_000006" "g.46269206C>A" "" "" "" "SIX5(NM_175875.4):c.1773G>T (p.T591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765948C>A" "" "likely benign" "" "0000308164" "0" "50" "19" "46268964" "46268964" "subst" "2.03688E-5" "01943" "SIX5_000004" "g.46268964C>T" "" "" "" "SIX5(NM_175875.4):c.2015G>A (p.S672N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765706C>T" "" "VUS" "" "0000308165" "0" "30" "19" "46268891" "46268891" "subst" "2.03611E-5" "01943" "SIX5_000002" "g.46268891C>T" "" "" "" "SIX5(NM_175875.4):c.2088G>A (p.L696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765633C>T" "" "likely benign" "" "0000308166" "0" "30" "19" "46272022" "46272022" "subst" "8.3894E-6" "01943" "SIX5_000010" "g.46272022C>T" "" "" "" "SIX5(NM_175875.4):c.81G>A (p.E27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45768764C>T" "" "likely benign" "" "0000326618" "0" "50" "19" "46270126" "46270126" "subst" "0.00013676" "01804" "SIX5_000009" "g.46270126C>A" "" "" "" "SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766868C>A" "" "VUS" "" "0000326620" "0" "50" "19" "46272060" "46272060" "subst" "1.66157E-5" "01804" "SIX5_000011" "g.46272060C>A" "" "" "" "SIX5(NM_175875.4):c.43G>T (p.(Gly15Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45768802C>A" "" "VUS" "" "0000340122" "0" "10" "19" "46271371" "46271371" "subst" "0.00312069" "02327" "SIX5_000017" "g.46271371C>T" "" "" "" "SIX5(NM_175875.4):c.732G>A (p.Q244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45768113C>T" "" "benign" "" "0000341349" "0" "30" "19" "46270331" "46270331" "subst" "5.54693E-5" "02327" "SIX5_000016" "g.46270331C>T" "" "" "" "SIX5(NM_175875.4):c.886G>A (p.A296T, p.(Ala296Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45767073C>T" "" "likely benign" "" "0000348475" "0" "30" "19" "46269739" "46269739" "subst" "0" "02327" "SIX5_000015" "g.46269739G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766481G>A" "" "likely benign" "" "0000348530" "0" "10" "19" "46269076" "46269076" "subst" "0.505771" "02327" "SIX5_000012" "g.46269076G>A" "" "" "" "SIX5(NM_175875.4):c.1903C>T (p.P635S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765818G>A" "" "benign" "" "0000349564" "0" "30" "19" "46269324" "46269324" "subst" "0.000263631" "02327" "SIX5_000014" "g.46269324G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45766066G>A" "" "likely benign" "" "0000350635" "0" "10" "19" "46268902" "46268902" "subst" "0.3189" "02327" "SIX5_000003" "g.46268902C>T" "" "" "" "SIX5(NM_175875.4):c.2077G>A (p.V693M), SIX5(NM_175875.5):c.2077G>A (p.V693M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.45765644C>T" "" "benign" "" "0000567757" "0" "30" "19" "46268996" "46268996" "subst" "4.5133E-5" "01943" "DMPK_000014" "g.46268996G>A" "" "" "" "SIX5(NM_175875.4):c.1983C>T (p.A661=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45765738G>A" "" "likely benign" "" "0000567758" "0" "30" "19" "46269001" "46269001" "subst" "0.000644976" "01943" "DMPK_000015" "g.46269001C>T" "" "" "" "SIX5(NM_175875.4):c.1978G>A (p.A660T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45765743C>T" "" "likely benign" "" "0000567759" "0" "10" "19" "46269016" "46269016" "subst" "0.00081405" "01943" "DMPK_000016" "g.46269016G>A" "" "" "" "SIX5(NM_175875.4):c.1963C>T (p.L655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45765758G>A" "" "benign" "" "0000567760" "0" "10" "19" "46269076" "46269076" "subst" "0.505771" "02326" "SIX5_000012" "g.46269076G>A" "" "" "" "SIX5(NM_175875.4):c.1903C>T (p.P635S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45765818G>A" "" "benign" "" "0000567761" "0" "30" "19" "46269294" "46269294" "subst" "0" "02327" "DMPK_000017" "g.46269294A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766036A>G" "" "likely benign" "" "0000567762" "0" "30" "19" "46269362" "46269362" "subst" "0.000552295" "01943" "DMPK_000018" "g.46269362G>A" "" "" "" "SIX5(NM_175875.4):c.1617C>T (p.F539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766104G>A" "" "likely benign" "" "0000567763" "0" "30" "19" "46269719" "46269719" "subst" "6.01839E-5" "02327" "DMPK_000019" "g.46269719C>T" "" "" "" "SIX5(NM_175875.4):c.1498G>A (p.G500R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766461C>T" "" "likely benign" "" "0000567765" "0" "50" "19" "46269791" "46269791" "subst" "0" "01943" "DMPK_000021" "g.46269791G>A" "" "" "" "SIX5(NM_175875.4):c.1426C>T (p.P476S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766533G>A" "" "VUS" "" "0000567766" "0" "50" "19" "46270270" "46270270" "subst" "3.06048E-5" "01943" "DMPK_000022" "g.46270270G>C" "" "" "" "SIX5(NM_175875.4):c.947C>G (p.P316R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45767012G>C" "" "VUS" "" "0000567767" "0" "30" "19" "46270331" "46270331" "subst" "5.54693E-5" "01943" "SIX5_000016" "g.46270331C>T" "" "" "" "SIX5(NM_175875.4):c.886G>A (p.A296T, p.(Ala296Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45767073C>T" "" "likely benign" "" "0000567768" "0" "30" "19" "46271371" "46271371" "subst" "0.00312069" "01943" "SIX5_000017" "g.46271371C>T" "" "" "" "SIX5(NM_175875.4):c.732G>A (p.Q244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768113C>T" "" "likely benign" "" "0000567769" "0" "30" "19" "46271890" "46271890" "subst" "0" "01943" "DMPK_000023" "g.46271890C>A" "" "" "" "SIX5(NM_175875.4):c.213G>T (p.G71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768632C>A" "" "likely benign" "" "0000567770" "0" "30" "19" "46273821" "46273821" "subst" "0" "01804" "DMPK_000024" "g.46273821G>C" "" "" "" "DMPK(NM_001081560.1):c.1800C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45770563G>C" "" "likely benign" "" "0000567772" "0" "30" "19" "46274661" "46274661" "subst" "0" "02325" "DMPK_000026" "g.46274661G>A" "" "" "" "DMPK(NM_001081563.2):c.1631-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45771403G>A" "" "likely benign" "" "0000567773" "0" "30" "19" "46274887" "46274887" "subst" "0.000101621" "01943" "DMPK_000027" "g.46274887T>G" "" "" "" "DMPK(NM_001081563.2):c.1569A>C (p.L523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45771629T>G" "" "likely benign" "" "0000567774" "0" "30" "19" "46274916" "46274916" "subst" "1.2202E-5" "01804" "DMPK_000028" "g.46274916G>A" "" "" "" "DMPK(NM_004409.3):c.1510C>T (p.(Arg504Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45771658G>A" "" "likely benign" "" "0000567775" "0" "50" "19" "46275054" "46275054" "subst" "0.000681239" "01943" "DMPK_000029" "g.46275054G>A" "" "" "" "DMPK(NM_001081563.2):c.1507C>T (p.R503C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45771796G>A" "" "VUS" "" "0000617701" "0" "30" "19" "46270126" "46270126" "subst" "0.00013676" "01943" "SIX5_000009" "g.46270126C>A" "" "" "" "SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766868C>A" "" "likely benign" "" "0000617702" "0" "30" "19" "46271877" "46271877" "subst" "0" "01943" "DMPK_000041" "g.46271877C>G" "" "" "" "SIX5(NM_175875.4):c.226G>C (p.A76P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768619C>G" "" "likely benign" "" "0000617703" "0" "30" "19" "46271879" "46271879" "subst" "0" "01943" "DMPK_000042" "g.46271879T>G" "" "" "" "SIX5(NM_175875.4):c.224A>C (p.E75A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768621T>G" "" "likely benign" "" "0000617704" "0" "30" "19" "46272060" "46272060" "subst" "2.49236E-5" "01804" "DMPK_000043" "g.46272060C>T" "" "" "" "SIX5(NM_175875.4):c.43G>A (p.(Gly15Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45768802C>T" "" "likely benign" "" "0000624039" "0" "30" "19" "46269792" "46269792" "subst" "0" "01943" "DMPK_000038" "g.46269792C>A" "" "" "" "SIX5(NM_175875.4):c.1425G>T (p.L475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766534C>A" "" "likely benign" "" "0000624040" "0" "90" "19" "46270031" "46270031" "subst" "0" "01943" "DMPK_000039" "g.46270031C>A" "" "" "" "SIX5(NM_175875.4):c.1186G>T (p.E396*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766773C>A" "" "pathogenic" "" "0000624041" "0" "30" "19" "46270203" "46270203" "subst" "0.000193483" "01943" "DMPK_000040" "g.46270203G>T" "" "" "" "SIX5(NM_175875.4):c.1014C>A (p.L338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.45766945G>T" "" "likely benign" "" "0000642250" "1" "99" "19" "46269162" "46269162" "subst" "4.78602E-6" "00004" "SIX5_000018" "g.46269162G>A" "" "{DB:DVD}, {PMID:Hwang 2014:24429398}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45765904G>A" "" "pathogenic" "" "0000642251" "1" "99" "19" "46269324" "46269324" "subst" "0.000263631" "00004" "SIX5_000014" "g.46269324G>A" "" "{DB:DVD}, {PMID:Hoskins 2007:17357085}, {PMID:Smith 1993:20301554}, {PMID:Krug 2011:21280147}, {PMID:Hwang 2014:24429398}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45766066G>A" "" "pathogenic" "" "0000642252" "1" "99" "19" "46270124" "46270124" "subst" "0" "00004" "SIX5_000019" "g.46270124C>T" "" "{DB:DVD}, {PMID:Hoskins 2007:17357085}, {PMID:Smith 1993:20301554}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45766866C>T" "" "pathogenic" "" "0000642253" "1" "99" "19" "46270331" "46270331" "subst" "5.54693E-5" "00004" "SIX5_000016" "g.46270331C>T" "" "{DB:DVD}, {PMID:Hoskins 2007:17357085}, {PMID:Smith 1993:20301554}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45767073C>T" "" "pathogenic" "" "0000642254" "1" "99" "19" "46271631" "46271631" "subst" "0.000111295" "00004" "SIX5_000020" "g.46271631C>T" "" "{DB:DVD}, {PMID:Hoskins 2007:17357085}, {PMID:Smith 1993:20301554}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.45768373C>T" "" "pathogenic" "" "0000681452" "0" "30" "19" "46269298" "46269298" "subst" "8.34996E-6" "01804" "DMPK_000049" "g.46269298T>C" "" "" "" "SIX5(NM_175875.4):c.1681A>G (p.(Ile561Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681453" "0" "30" "19" "46270126" "46270126" "subst" "0.00013676" "02326" "SIX5_000009" "g.46270126C>A" "" "" "" "SIX5(NM_175875.4):c.1091G>T (p.G364V, p.(Gly364Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681454" "0" "50" "19" "46271520" "46271520" "subst" "0" "01943" "DMPK_000050" "g.46271520G>A" "" "" "" "SIX5(NM_175875.4):c.583C>T (p.P195S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681455" "0" "50" "19" "46274288" "46274288" "subst" "0" "01943" "DMPK_000051" "g.46274288G>A" "" "" "" "DMPK(NM_001081563.2):c.1708C>T (p.Q570*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692842" "0" "10" "19" "46271951" "46271956" "dup" "0" "01943" "DMPK_000054" "g.46271951_46271956dup" "" "" "" "SIX5(NM_175875.4):c.156_161dupCGGGGC (p.G55_A56dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000699853" "0" "70" "19" "46268790" "46268790" "subst" "6.90832E-5" "00006" "SIX5_000021" "g.46268790G>A" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.45765532G>A" "" "VUS" "" "0000727446" "0" "30" "19" "46269035" "46269035" "subst" "0.000133783" "01943" "DMPK_000057" "g.46269035C>T" "" "" "" "SIX5(NM_175875.4):c.1944G>A (p.P648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727447" "0" "30" "19" "46269719" "46269719" "subst" "6.01839E-5" "02326" "DMPK_000019" "g.46269719C>T" "" "" "" "SIX5(NM_175875.4):c.1498G>A (p.G500R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727448" "0" "30" "19" "46270406" "46270406" "subst" "0.000445786" "01943" "DMPK_000058" "g.46270406C>T" "" "" "" "SIX5(NM_175875.4):c.811G>A (p.D271N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727449" "0" "30" "19" "46271467" "46271467" "subst" "5.36618E-5" "02326" "DMPK_000059" "g.46271467G>A" "" "" "" "SIX5(NM_175875.4):c.636C>T (p.S212=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727450" "0" "30" "19" "46274243" "46274243" "subst" "0" "01943" "DMPK_000060" "g.46274243G>A" "" "" "" "DMPK(NM_001081563.2):c.1753C>T (p.L585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808947" "0" "10" "19" "46269016" "46269016" "subst" "0.00081405" "02326" "DMPK_000016" "g.46269016G>A" "" "" "" "SIX5(NM_175875.4):c.1963C>T (p.L655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808948" "0" "30" "19" "46269206" "46269206" "subst" "0.00085385" "02326" "SIX5_000006" "g.46269206C>A" "" "" "" "SIX5(NM_175875.4):c.1773G>T (p.T591=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808949" "0" "50" "19" "46270033" "46270033" "subst" "0" "01943" "DMPK_000062" "g.46270033A>G" "" "" "" "SIX5(NM_175875.4):c.1184T>C (p.L395P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808950" "0" "10" "19" "46271951" "46271956" "dup" "0" "02326" "DMPK_000054" "g.46271951_46271956dup" "" "" "" "SIX5(NM_175875.4):c.156_161dupCGGGGC (p.G55_A56dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000808951" "0" "50" "19" "46275054" "46275054" "subst" "0.000681239" "02325" "DMPK_000029" "g.46275054G>A" "" "" "" "DMPK(NM_001081563.2):c.1507C>T (p.R503C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000812863" "3" "90" "19" "46272059" "46272059" "subst" "8.29917E-6" "01867" "SIX5_000022" "g.46272059C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000855633" "0" "30" "19" "46271728" "46271728" "subst" "0.00113052" "02326" "DMPK_000068" "g.46271728C>G" "" "" "" "SIX5(NM_175875.4):c.375G>C (p.P125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866187" "0" "30" "19" "46269127" "46269127" "subst" "0" "01943" "DMPK_000067" "g.46269127A>G" "" "" "" "SIX5(NM_175875.4):c.1852T>C (p.S618P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000876099" "11" "70" "19" "46271987" "46271987" "subst" "0" "00006" "SIX5_000023" "g.46271987A>G" "" "{PMID:Barrie 2019:31171569}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000895058" "0" "30" "19" "46269350" "46269350" "subst" "2.9327E-5" "02326" "DMPK_000072" "g.46269350G>A" "" "" "" "SIX5(NM_175875.4):c.1629C>T (p.N543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895059" "0" "30" "19" "46270338" "46270338" "subst" "8.51557E-6" "02326" "DMPK_000073" "g.46270338T>C" "" "" "" "SIX5(NM_175875.4):c.879A>G (p.P293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895060" "0" "30" "19" "46271727" "46271727" "subst" "0" "02326" "DMPK_000074" "g.46271727C>T" "" "" "" "SIX5(NM_175875.4):c.376G>A (p.V126M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915256" "0" "30" "19" "46270203" "46270203" "subst" "0.000193483" "02326" "DMPK_000040" "g.46270203G>T" "" "" "" "SIX5(NM_175875.4):c.1014C>A (p.L338=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931076" "0" "50" "19" "46273828" "46273828" "subst" "0" "02325" "DMPK_000078" "g.46273828G>A" "" "" "" "DMPK(NM_001081563.2):c.1838C>T (p.A613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983535" "0" "30" "19" "46268790" "46268790" "subst" "6.90832E-5" "01804" "SIX5_000021" "g.46268790G>A" "" "" "" "SIX5(NM_175875.5):c.2189C>T (p.(Ser730Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983536" "0" "30" "19" "46269362" "46269362" "subst" "0.000552295" "02326" "DMPK_000018" "g.46269362G>A" "" "" "" "SIX5(NM_175875.4):c.1617C>T (p.F539=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983537" "0" "30" "19" "46269851" "46269851" "subst" "0.000525399" "02326" "DMPK_000081" "g.46269851G>A" "" "" "" "SIX5(NM_175875.4):c.1366C>T (p.L456F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983538" "0" "50" "19" "46270423" "46270423" "subst" "4.35749E-6" "01804" "DMPK_000082" "g.46270423G>A" "" "" "" "SIX5(NM_175875.5):c.804-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004892" "0" "30" "19" "46269235" "46269235" "subst" "0" "01804" "DMPK_000084" "g.46269235C>T" "" "" "" "SIX5(NM_175875.4):c.1744G>A (p.(Gly582Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004893" "0" "50" "19" "46269622" "46269622" "subst" "0" "01804" "DMPK_000085" "g.46269622G>A" "" "" "" "SIX5(NM_175875.4):c.1595C>T (p.(Ser532Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004894" "0" "50" "19" "46270331" "46270331" "subst" "5.54693E-5" "01804" "SIX5_000016" "g.46270331C>T" "" "" "" "SIX5(NM_175875.4):c.886G>A (p.A296T, p.(Ala296Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004895" "0" "50" "19" "46271375" "46271375" "subst" "0" "01804" "DMPK_000086" "g.46271375G>A" "" "" "" "SIX5(NM_175875.4):c.728C>T (p.(Thr243Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004896" "0" "50" "19" "46271966" "46271968" "dup" "0" "01804" "DMPK_000087" "g.46271966_46271968dup" "" "" "" "SIX5(NM_175875.4):c.147_149dupGGC (p.(Ala50dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043045" "0" "50" "19" "46269745" "46269745" "subst" "0" "01804" "DMPK_000098" "g.46269745A>C" "" "" "" "SIX5(NM_175875.5):c.1472T>G (p.(Val491Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043046" "0" "30" "19" "46269827" "46269827" "subst" "0.000118245" "02326" "DMPK_000099" "g.46269827T>A" "" "" "" "SIX5(NM_175875.4):c.1390A>T (p.T464S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043047" "0" "50" "19" "46270383" "46270383" "subst" "5.54234E-5" "01804" "DMPK_000100" "g.46270383G>T" "" "" "" "SIX5(NM_175875.5):c.834C>A (p.(Asp278Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043048" "0" "10" "19" "46271371" "46271371" "subst" "0.00312069" "02326" "SIX5_000017" "g.46271371C>T" "" "" "" "SIX5(NM_175875.4):c.732G>A (p.Q244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001044888" "1" "90" "19" "46269112" "46269112" "dup" "0" "00006" "SIX5_000024" "g.46269112dup" "1/1291 cases hearing loss" "{PMID:Wu 2019:31581539}" "" "1872dupC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.45765854dup" "" "pathogenic (dominant)" "" ## 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 SIX5 ## Count = 89 "{{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}}" "0000223247" "00018957" "90" "675" "0" "675" "0" "c.675C>A" "r.(?)" "p.(Tyr225*)" "" "0000265369" "00018957" "10" "-3874" "0" "-3874" "0" "c.-3874C>G" "r.(?)" "p.(=)" "" "0000267424" "00018957" "50" "-2969" "0" "-2969" "0" "c.-2969G>T" "r.(?)" "p.(=)" "" "0000267425" "00018957" "30" "-1686" "0" "-1686" "0" "c.-1686C>T" "r.(?)" "p.(=)" "" "0000298215" "00018957" "10" "1666" "0" "1666" "0" "c.1666=" "r.(=)" "p.(Val556=)" "" "0000298216" "00018957" "10" "2077" "0" "2077" "0" "c.2077G>A" "r.(?)" "p.(Val693Met)" "" "0000302116" "00018957" "10" "1979" "0" "1979" "0" "c.1979C>A" "r.(?)" "p.(Ala660Glu)" "" "0000302117" "00018957" "10" "2077" "0" "2077" "0" "c.2077G>A" "r.(?)" "p.(Val693Met)" "" "0000308162" "00018957" "30" "1656" "0" "1656" "0" "c.1656G>A" "r.(?)" "p.(Thr552=)" "" "0000308163" "00018957" "30" "1773" "0" "1773" "0" "c.1773G>T" "r.(?)" "p.(Thr591=)" "" "0000308164" "00018957" "50" "2015" "0" "2015" "0" "c.2015G>A" "r.(?)" "p.(Ser672Asn)" "" "0000308165" "00018957" "30" "2088" "0" "2088" "0" "c.2088G>A" "r.(?)" "p.(Leu696=)" "" "0000308166" "00018957" "30" "81" "0" "81" "0" "c.81G>A" "r.(?)" "p.(Glu27=)" "" "0000326618" "00018957" "50" "1091" "0" "1091" "0" "c.1091G>T" "r.(?)" "p.(Gly364Val)" "" "0000326620" "00018957" "50" "43" "0" "43" "0" "c.43G>T" "r.(?)" "p.(Gly15Trp)" "" "0000340122" "00018957" "10" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Gln244=)" "" "0000341349" "00018957" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Ala296Thr)" "" "0000348475" "00018957" "30" "1478" "0" "1478" "0" "c.1478C>T" "r.(?)" "p.(Pro493Leu)" "" "0000348530" "00018957" "10" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Pro635Ser)" "" "0000349564" "00018957" "30" "1655" "0" "1655" "0" "c.1655C>T" "r.(?)" "p.(Thr552Met)" "" "0000350635" "00018957" "10" "2077" "0" "2077" "0" "c.2077G>A" "r.(?)" "p.(Val693Met)" "" "0000567757" "00018957" "30" "1983" "0" "1983" "0" "c.1983C>T" "r.(?)" "p.(Ala661=)" "" "0000567758" "00018957" "30" "1978" "0" "1978" "0" "c.1978G>A" "r.(?)" "p.(Ala660Thr)" "" "0000567759" "00018957" "10" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Leu655=)" "" "0000567760" "00018957" "10" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Pro635Ser)" "" "0000567761" "00018957" "30" "1685" "0" "1685" "0" "c.1685T>C" "r.(?)" "p.(Ile562Thr)" "" "0000567762" "00018957" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Phe539=)" "" "0000567763" "00018957" "30" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Gly500Arg)" "" "0000567765" "00018957" "50" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Pro476Ser)" "" "0000567766" "00018957" "50" "947" "0" "947" "0" "c.947C>G" "r.(?)" "p.(Pro316Arg)" "" "0000567767" "00018957" "30" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Ala296Thr)" "" "0000567768" "00018957" "30" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Gln244=)" "" "0000567769" "00018957" "30" "213" "0" "213" "0" "c.213G>T" "r.(?)" "p.(Gly71=)" "" "0000567770" "00018957" "30" "-1719" "0" "-1719" "0" "c.-1719C>G" "r.(?)" "p.(=)" "" "0000567772" "00018957" "30" "-2559" "0" "-2559" "0" "c.-2559C>T" "r.(?)" "p.(=)" "" "0000567773" "00018957" "30" "-2785" "0" "-2785" "0" "c.-2785A>C" "r.(?)" "p.(=)" "" "0000567774" "00018957" "30" "-2814" "0" "-2814" "0" "c.-2814C>T" "r.(?)" "p.(=)" "" "0000567775" "00018957" "50" "-2952" "0" "-2952" "0" "c.-2952C>T" "r.(?)" "p.(=)" "" "0000617701" "00018957" "30" "1091" "0" "1091" "0" "c.1091G>T" "r.(?)" "p.(Gly364Val)" "" "0000617702" "00018957" "30" "226" "0" "226" "0" "c.226G>C" "r.(?)" "p.(Ala76Pro)" "" "0000617703" "00018957" "30" "224" "0" "224" "0" "c.224A>C" "r.(?)" "p.(Glu75Ala)" "" "0000617704" "00018957" "30" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Gly15Arg)" "" "0000624039" "00018957" "30" "1425" "0" "1425" "0" "c.1425G>T" "r.(?)" "p.(Leu475=)" "" "0000624040" "00018957" "90" "1186" "0" "1186" "0" "c.1186G>T" "r.(?)" "p.(Glu396Ter)" "" "0000624041" "00018957" "30" "1014" "0" "1014" "0" "c.1014C>A" "r.(?)" "p.(Leu338=)" "" "0000642250" "00018957" "99" "1817" "0" "1817" "0" "c.1817C>T" "r.(?)" "p.(Pro606Leu)" "3" "0000642251" "00018957" "99" "1655" "0" "1655" "0" "c.1655C>T" "r.(?)" "p.(Thr552Met)" "3" "0000642252" "00018957" "99" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Gly365Arg)" "2" "0000642253" "00018957" "99" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Ala296Thr)" "2" "0000642254" "00018957" "99" "472" "0" "472" "0" "c.472G>A" "r.(?)" "p.(Ala158Thr)" "1" "0000681452" "00018957" "30" "1681" "0" "1681" "0" "c.1681A>G" "r.(?)" "p.(Ile561Val)" "" "0000681453" "00018957" "30" "1091" "0" "1091" "0" "c.1091G>T" "r.(?)" "p.(Gly364Val)" "" "0000681454" "00018957" "50" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Pro195Ser)" "" "0000681455" "00018957" "50" "-2186" "0" "-2186" "0" "c.-2186C>T" "r.(?)" "p.(=)" "" "0000692842" "00018957" "10" "156" "0" "161" "0" "c.156_161dup" "r.(?)" "p.(Gly55_Ala56dup)" "" "0000699853" "00018957" "70" "2189" "0" "2189" "0" "c.2189C>T" "r.(?)" "p.(Ser730Leu)" "" "0000727446" "00018957" "30" "1944" "0" "1944" "0" "c.1944G>A" "r.(?)" "p.(Pro648=)" "" "0000727447" "00018957" "30" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Gly500Arg)" "" "0000727448" "00018957" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Asp271Asn)" "" "0000727449" "00018957" "30" "636" "0" "636" "0" "c.636C>T" "r.(?)" "p.(Ser212=)" "" "0000727450" "00018957" "30" "-2141" "0" "-2141" "0" "c.-2141C>T" "r.(?)" "p.(=)" "" "0000808947" "00018957" "10" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Leu655=)" "" "0000808948" "00018957" "30" "1773" "0" "1773" "0" "c.1773G>T" "r.(?)" "p.(Thr591=)" "" "0000808949" "00018957" "50" "1184" "0" "1184" "0" "c.1184T>C" "r.(?)" "p.(Leu395Pro)" "" "0000808950" "00018957" "10" "156" "0" "161" "0" "c.156_161dup" "r.(?)" "p.(Gly55_Ala56dup)" "" "0000808951" "00018957" "50" "-2952" "0" "-2952" "0" "c.-2952C>T" "r.(?)" "p.(=)" "" "0000812863" "00018957" "90" "44" "0" "44" "0" "c.44G>C" "r.(?)" "p.(Gly15Ala)" "1" "0000855633" "00018957" "30" "375" "0" "375" "0" "c.375G>C" "r.(?)" "p.(Pro125=)" "" "0000866187" "00018957" "30" "1852" "0" "1852" "0" "c.1852T>C" "r.(?)" "p.(Ser618Pro)" "" "0000876099" "00018957" "70" "116" "0" "116" "0" "c.116T>C" "r.(?)" "p.(Leu39Ser)" "" "0000895058" "00018957" "30" "1629" "0" "1629" "0" "c.1629C>T" "r.(?)" "p.(Asn543=)" "" "0000895059" "00018957" "30" "879" "0" "879" "0" "c.879A>G" "r.(?)" "p.(Pro293=)" "" "0000895060" "00018957" "30" "376" "0" "376" "0" "c.376G>A" "r.(?)" "p.(Val126Met)" "" "0000915256" "00018957" "30" "1014" "0" "1014" "0" "c.1014C>A" "r.(?)" "p.(Leu338=)" "" "0000931076" "00018957" "50" "-1726" "0" "-1726" "0" "c.-1726C>T" "r.(?)" "p.(=)" "" "0000983535" "00018957" "30" "2189" "0" "2189" "0" "c.2189C>T" "r.(?)" "p.(Ser730Leu)" "" "0000983536" "00018957" "30" "1617" "0" "1617" "0" "c.1617C>T" "r.(?)" "p.(Phe539=)" "" "0000983537" "00018957" "30" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Leu456Phe)" "" "0000983538" "00018957" "50" "804" "-10" "804" "-10" "c.804-10C>T" "r.(=)" "p.(=)" "" "0001004892" "00018957" "30" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Gly582Ser)" "" "0001004893" "00018957" "50" "1595" "0" "1595" "0" "c.1595C>T" "r.(?)" "p.(Ser532Leu)" "" "0001004894" "00018957" "50" "886" "0" "886" "0" "c.886G>A" "r.(?)" "p.(Ala296Thr)" "" "0001004895" "00018957" "50" "728" "0" "728" "0" "c.728C>T" "r.(?)" "p.(Thr243Met)" "" "0001004896" "00018957" "50" "147" "0" "149" "0" "c.147_149dup" "r.(?)" "p.(Ala50dup)" "" "0001043045" "00018957" "50" "1472" "0" "1472" "0" "c.1472T>G" "r.(?)" "p.(Val491Gly)" "" "0001043046" "00018957" "30" "1390" "0" "1390" "0" "c.1390A>T" "r.(?)" "p.(Thr464Ser)" "" "0001043047" "00018957" "50" "834" "0" "834" "0" "c.834C>A" "r.(?)" "p.(Asp278Glu)" "" "0001043048" "00018957" "10" "732" "0" "732" "0" "c.732G>A" "r.(?)" "p.(Gln244=)" "" "0001044888" "00018957" "90" "1872" "0" "1872" "0" "c.1872dup" "r,(?)" "p.(Ala625ArgfsTer15)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000133819" "0000223247" "0000286508" "0000642250" "0000286509" "0000642251" "0000286510" "0000642252" "0000286511" "0000642253" "0000286512" "0000642254" "0000317329" "0000699853" "0000325591" "0000876099" "0000385745" "0000812863" "0000467119" "0001044888"