### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMC6) # 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}}" "TMC6" "transmembrane channel-like 6" "17" "q25.3" "unknown" "LRG_118" "UD_132118786573" "" "https://www.LOVD.nl/TMC6" "" "1" "18021" "11322" "605828" "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/TMC6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-09-16 16:57:12" "00000" "2024-04-19 20:27:30" ## 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}}" "00025464" "TMC6" "transcript variant 2" "001" "NM_007267.6" "" "NP_009198.4" "" "" "" "-141" "2648" "2418" "76128488" "76108999" "00006" "2019-09-16 16:56:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01772" "EV" "epidermodysplasia verruciformis, susceptibiity to (EV)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-09-16 16:48:32" "05653" "EV1" "epidermodysplasia verruciformis, susceptibiity to 1 (EV-1)" "AR" "226400" "" "" "autosomal recessive" "00006" "2019-09-16 16:49:16" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TMC6" "01772" "TMC6" "05653" ## 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}}" "00264005" "" "" "" "1" "" "02484" "" "" "F" "yes" "Japan" "57y" "0" "" "" "Unknown" "" "00264006" "" "" "" "1" "" "02484" "" "" "M" "yes" "Algeria" "37y" "0" "" "" "Unknown" "" "00264008" "" "" "" "1" "" "02484" "" "" "M" "yes" "Colombia" "38y" "0" "" "" "Unknown" "" "00264010" "" "" "" "1" "" "02484" "" "" "F" "no" "Japan" "65y" "0" "" "" "Unknown" "" "00264011" "" "" "" "2" "" "02484" "{PMID:Youssefian 2019:30036492}" "family, 2 affected" "?" "?" "" "10y" "0" "" "" "" "Fam3Pat" "00264012" "" "" "" "1" "" "02484" "" "" "F" "no" "Japan" "66y" "0" "" "" "Unknown" "" "00264014" "" "" "" "1" "" "02484" "" "" "F" "yes" "Pakistan" "34y" "0" "" "" "Unknown" "" "00264015" "" "" "" "1" "" "02484" "" "" "M" "yes" "Mongolia" "43y" "0" "" "" "Unknown" "" "00291862" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291863" "" "" "" "23" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00264005" "01772" "00264006" "01772" "00264008" "01772" "00264010" "01772" "00264011" "01772" "00264012" "01772" "00264014" "01772" "00264015" "01772" "00291862" "00198" "00291863" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01772, 05653 ## Count = 8 "{{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}}" "0000201863" "01772" "00264006" "02484" "Familial, autosomal recessive" "" "Persistent flat wart-like lesions and pityriasis versicolor-like lesions disseminated. BCC." "" "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "" "0000201865" "01772" "00264008" "02484" "Familial, autosomal recessive" "" "Persistent flat wart-like lesions and pityriasis versicolor-like lesions disseminated." "" "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "" "0000201866" "01772" "00264010" "02484" "Familial, autosomal recessive" "" "Flat warts. SCC and Bowen disease" "" "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "" "0000201867" "01772" "00264011" "02484" "Familial, autosomal recessive" "" "Flat warts on the upper limbs and trunk, few papules in hands. Bowenoid cancer and SCC" "" "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "" "0000201868" "01772" "00264012" "02484" "Familial, autosomal recessive" "" "Flat warts. SCC and Bowen disease" "" "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "" "0000201870" "01772" "00264014" "02484" "Familial, autosomal recessive" "" "Brown and pink verrucous plaques resembling flatwarts, multiple pink and dark brown palmar hyperkeratotic plaques. Maybe atypical psoriasis." "" "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "" "0000201871" "01772" "00264015" "02484" "Familial, autosomal recessive" "" "Flat and brown patches; multiple flat-wart-like papules,sporadic brownish pityriasis versicolor-like lesions. SCC" "" "" "" "" "" "" "" "" "Epidermodysplasia verruciformis" "" "" "0000203059" "01772" "00264005" "02484" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "0000265117" "00264005" "1" "02484" "02484" "2019-09-05 15:46:40" "" "" "?" "protein" "" "" "0000265118" "00264006" "1" "02484" "02484" "2019-09-05 16:06:03" "" "" "PCR" "DNA" "" "" "0000265120" "00264008" "1" "02484" "02484" "2019-09-05 16:16:03" "" "" "PCR" "DNA" "" "" "0000265121" "00264010" "1" "02484" "02484" "2019-09-05 16:20:19" "" "" "PCR" "DNA" "" "" "0000265122" "00264011" "1" "02484" "02484" "2019-09-05 16:24:28" "" "" "PCR" "DNA" "" "" "0000265123" "00264012" "1" "02484" "02484" "2019-09-05 16:31:34" "" "" "PCR" "DNA" "" "" "0000265125" "00264014" "1" "02484" "02484" "2019-09-05 16:47:01" "" "" "PCR" "DNA" "" "" "0000265126" "00264015" "1" "02484" "02484" "2019-09-05 16:57:53" "" "" "TaqMan" "DNA" "" "" "0000293030" "00291862" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293031" "00291863" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000265117" "TMC6" "0000265118" "TMC6" "0000265120" "TMC6" "0000265121" "TMC6" "0000265122" "TMC6" "0000265123" "TMC6" "0000265125" "TMC6" "0000265126" "TMC6" ## 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 = 152 "{{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}}" "0000248863" "0" "10" "17" "76130575" "76130575" "subst" "0.51203" "02325" "TMC8_000003" "g.76130575A>T" "" "" "" "TMC8(NM_152468.5):c.917A>T (p.N306I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78134494A>T" "" "benign" "" "0000248947" "0" "10" "17" "76121864" "76121864" "subst" "0.237553" "02325" "TMC6_000015" "g.76121864A>G" "" "" "" "TMC6(NM_001127198.5):c.373T>C (p.W125R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78125783A>G" "" "benign" "" "0000249231" "0" "10" "17" "76120065" "76120065" "subst" "0.343263" "02325" "TMC6_000009" "g.76120065A>G" "" "" "" "TMC6(NM_001127198.5):c.1082+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78123984A>G" "" "benign" "" "0000311860" "0" "10" "17" "76118834" "76118834" "subst" "0.0924337" "02325" "TMC6_000008" "g.76118834G>C" "" "" "" "TMC6(NM_001127198.5):c.1083-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78122753G>C" "" "benign" "" "0000311861" "0" "10" "17" "76137198" "76137198" "subst" "0.995745" "02325" "TMC8_000016" "g.76137198T>G" "" "" "" "TMC8(NM_152468.5):c.*5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78141117T>G" "" "benign" "" "0000311862" "0" "10" "17" "76131070" "76131070" "subst" "0.536501" "02325" "TMC8_000006" "g.76131070G>A" "" "" "" "TMC8(NM_152468.5):c.1107G>A (p.E369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78134989G>A" "" "benign" "" "0000311863" "0" "10" "17" "76134828" "76134828" "subst" "0.580271" "02325" "TMC8_000013" "g.76134828C>A" "" "" "" "TMC8(NM_152468.5):c.1823+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78138747C>A" "" "benign" "" "0000311864" "0" "10" "17" "76129636" "76129636" "subst" "0.22751" "02325" "TMC8_000001" "g.76129636T>C" "" "" "" "TMC8(NM_152468.5):c.668+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78133555T>C" "" "benign" "" "0000314528" "0" "30" "17" "76117124" "76117124" "subst" "0.0085412" "02326" "TMC6_000006" "g.76117124G>A" "" "" "" "TMC6(NM_007267.6):c.1505C>T (p.P502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78121043G>A" "" "likely benign" "" "0000314529" "0" "30" "17" "76115479" "76115479" "del" "0.0879539" "02326" "TMC6_000004" "g.76115479del" "" "" "" "TMC6(NM_001127198.5):c.1716-6delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78119398del" "" "likely benign" "" "0000314530" "0" "50" "17" "76113739" "76113739" "subst" "0.00287875" "02326" "TMC6_000003" "g.76113739C>T" "" "" "" "TMC6(NM_001127198.5):c.2022-14G>A, TMC6(NM_007267.6):c.2022-14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78117658C>T" "" "VUS" "" "0000314531" "0" "10" "17" "76109296" "76109296" "subst" "0.0115247" "02326" "TMC6_000001" "g.76109296C>T" "" "" "" "TMC6(NM_001127198.5):c.2355-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78113215C>T" "" "benign" "" "0000314532" "0" "30" "17" "76121922" "76121922" "subst" "0.000947811" "02326" "TMC6_000016" "g.76121922C>T" "" "" "" "TMC6(NM_001127198.5):c.315G>A (p.(Thr105=)), TMC6(NM_007267.6):c.315G>A (p.T105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78125841C>T" "" "likely benign" "" "0000314533" "0" "30" "17" "76120993" "76120993" "subst" "0.00251951" "02326" "TMC6_000011" "g.76120993G>A" "" "" "" "TMC6(NM_001127198.2):c.610C>T (p.R204W), TMC6(NM_001127198.5):c.610C>T (p.R204W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78124912G>A" "" "likely benign" "" "0000314534" "0" "10" "17" "76130987" "76130987" "subst" "0.0245807" "02326" "TMC8_000005" "g.76130987G>T" "" "" "" "TMC8(NM_152468.4):c.1024G>T (p.G342W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78134906G>T" "" "benign" "" "0000314535" "0" "30" "17" "76133356" "76133356" "subst" "0.00101998" "02326" "TMC8_000007" "g.76133356G>A" "" "" "" "TMC8(NM_152468.4):c.1168G>A (p.V390I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78137275G>A" "" "likely benign" "" "0000314536" "0" "10" "17" "76134072" "76134072" "subst" "0.0366756" "02326" "TMC8_000008" "g.76134072T>G" "" "" "" "TMC8(NM_152468.4):c.1350-14T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78137991T>G" "" "benign" "" "0000314537" "0" "10" "17" "76134237" "76134237" "subst" "0.0378463" "02326" "TMC8_000009" "g.76134237G>A" "" "" "" "TMC8(NM_152468.4):c.1501G>A (p.V501I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78138156G>A" "" "benign" "" "0000314538" "0" "10" "17" "76134650" "76134650" "subst" "0.0376484" "02326" "TMC8_000011" "g.76134650G>T" "" "" "" "TMC8(NM_152468.4):c.1665-5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78138569G>T" "" "benign" "" "0000314539" "0" "10" "17" "76129930" "76129930" "subst" "0.0316868" "02326" "TMC8_000002" "g.76129930G>C" "" "" "" "TMC8(NM_152468.4):c.669-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78133849G>C" "" "benign" "" "0000314540" "0" "10" "17" "76127746" "76127746" "subst" "0.0324812" "02326" "TMC6_000018" "g.76127746T>C" "" "" "" "TMC8(NM_152468.4):c.77T>C (p.M26T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78131665T>C" "" "benign" "" "0000314541" "0" "10" "17" "76130947" "76130947" "subst" "0.000630584" "02326" "TMC8_000004" "g.76130947G>A" "" "" "" "TMC8(NM_152468.4):c.988-4G>A, TMC8(NM_152468.5):c.988-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78134866G>A" "" "benign" "" "0000316655" "0" "30" "17" "76120081" "76120081" "subst" "0.000174783" "01943" "TMC6_000010" "g.76120081G>A" "" "" "" "TMC6(NM_001127198.2):c.1071C>T (p.T357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78124000G>A" "" "likely benign" "" "0000316656" "0" "30" "17" "76122651" "76122651" "subst" "0.000207331" "01943" "TMC6_000017" "g.76122651C>T" "" "" "" "TMC6(NM_001127198.2):c.135G>A (p.T45=), TMC6(NM_007267.6):c.135G>A (p.T45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78126570C>T" "" "likely benign" "" "0000316657" "0" "30" "17" "76116917" "76116917" "subst" "0.00334572" "01943" "TMC6_000005" "g.76116917C>T" "" "" "" "TMC6(NM_001127198.2):c.1536-4G>A, TMC6(NM_007267.6):c.1536-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78120836C>T" "" "likely benign" "" "0000316658" "0" "10" "17" "76121844" "76121844" "subst" "0.000639676" "01943" "TMC6_000014" "g.76121844G>A" "" "" "" "TMC6(NM_001127198.2):c.393C>T (p.Y131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78125763G>A" "" "benign" "" "0000316659" "0" "10" "17" "76121318" "76121318" "subst" "0.133295" "01943" "TMC6_000013" "g.76121318G>A" "" "" "" "TMC6(NM_001127198.2):c.457C>T (p.L153F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78125237G>A" "" "benign" "" "0000316660" "0" "50" "17" "76121279" "76121279" "subst" "0" "01943" "TMC6_000012" "g.76121279G>A" "" "" "" "TMC6(NM_001127198.2):c.496C>T (p.R166C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78125198G>A" "" "VUS" "" "0000316661" "0" "30" "17" "76134467" "76134467" "subst" "0.00203493" "01943" "TMC8_000010" "g.76134467C>T" "" "" "" "TMC8(NM_152468.4):c.1571C>T (p.P524L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78138386C>T" "" "likely benign" "" "0000316662" "0" "30" "17" "76134715" "76134715" "subst" "0.00123932" "01943" "TMC8_000012" "g.76134715C>T" "" "" "" "TMC8(NM_152468.4):c.1725C>T (p.V575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78138634C>T" "" "likely benign" "" "0000316663" "0" "30" "17" "76136908" "76136910" "del" "0" "01943" "TMC8_000014" "g.76136908_76136910del" "" "" "" "TMC8(NM_152468.4):c.1903-7_1903-5delCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78140827_78140829del" "" "likely benign" "" "0000316664" "0" "30" "17" "76136926" "76136926" "subst" "1.28259E-5" "01943" "TMC8_000015" "g.76136926G>A" "" "" "" "TMC8(NM_152468.4):c.1914G>A (p.E638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78140845G>A" "" "likely benign" "" "0000325656" "0" "30" "17" "76117754" "76117754" "subst" "0" "01804" "TMC6_000007" "g.76117754C>G" "" "" "" "TMC6(NM_001127198.1):c.1266G>C (p.(Arg422Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78121673C>G" "" "likely benign" "" "0000338721" "0" "10" "17" "76115301" "76115301" "subst" "0" "02327" "TMC6_000020" "g.76115301G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78119220G>A" "" "benign" "" "0000338722" "0" "10" "17" "76115353" "76115353" "subst" "0.622194" "02327" "TMC6_000021" "g.76115353T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78119272T>C" "" "benign" "" "0000338723" "0" "10" "17" "76120065" "76120065" "subst" "0.343263" "02327" "TMC6_000009" "g.76120065A>G" "" "" "" "TMC6(NM_001127198.5):c.1082+5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78123984A>G" "" "benign" "" "0000338724" "0" "30" "17" "76120588" "76120588" "subst" "0.00351988" "02327" "TMC6_000022" "g.76120588T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78124507T>C" "" "likely benign" "" "0000338725" "0" "10" "17" "76129636" "76129636" "subst" "0.22751" "02327" "TMC8_000001" "g.76129636T>C" "" "" "" "TMC8(NM_152468.5):c.668+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78133555T>C" "" "benign" "" "0000338726" "0" "10" "17" "76130947" "76130947" "subst" "0.0783877" "02327" "TMC8_000017" "g.76130947G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78134866G>T" "" "benign" "" "0000338727" "0" "30" "17" "76134302" "76134302" "subst" "0.0010509" "02327" "TMC8_000018" "g.76134302G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78138221G>A" "" "likely benign" "" "0000338728" "0" "10" "17" "76134828" "76134828" "subst" "0.580271" "02327" "TMC8_000013" "g.76134828C>A" "" "" "" "TMC8(NM_152468.5):c.1823+15C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78138747C>A" "" "benign" "" "0000338729" "0" "10" "17" "76137198" "76137198" "subst" "0.995745" "02327" "TMC8_000016" "g.76137198T>G" "" "" "" "TMC8(NM_152468.5):c.*5T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78141117T>G" "" "benign" "" "0000340440" "0" "10" "17" "76131070" "76131070" "subst" "0.536501" "02327" "TMC8_000006" "g.76131070G>A" "" "" "" "TMC8(NM_152468.5):c.1107G>A (p.E369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78134989G>A" "" "benign" "" "0000343698" "0" "10" "17" "76130575" "76130575" "subst" "0.51203" "02327" "TMC8_000003" "g.76130575A>T" "" "" "" "TMC8(NM_152468.5):c.917A>T (p.N306I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78134494A>T" "" "benign" "" "0000563256" "0" "30" "17" "76109301" "76109301" "subst" "0.00029126" "01943" "TMC6_000023" "g.76109301A>G" "" "" "" "TMC6(NM_001127198.2):c.2355-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78113220A>G" "" "likely benign" "" "0000563257" "0" "10" "17" "76113838" "76113838" "subst" "0.00195773" "02327" "TMC6_000025" "g.76113838C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78117757C>A" "" "benign" "" "0000563258" "0" "10" "17" "76113954" "76113954" "subst" "0.137905" "02327" "TMC6_000026" "g.76113954G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78117873G>A" "" "benign" "" "0000563259" "0" "30" "17" "76115094" "76115094" "subst" "2.64644E-5" "01943" "TMC6_000027" "g.76115094G>A" "" "" "" "TMC6(NM_001127198.2):c.1845C>T (p.A615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78119013G>A" "" "likely benign" "" "0000563260" "0" "10" "17" "76115181" "76115181" "subst" "0" "02327" "TMC6_000028" "g.76115181A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78119100A>T" "" "benign" "" "0000563261" "0" "10" "17" "76117001" "76117001" "subst" "0" "02327" "TMC6_000029" "g.76117001C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78120920C>T" "" "benign" "" "0000563262" "0" "30" "17" "76117201" "76117201" "subst" "8.4151E-6" "01943" "TMC6_000030" "g.76117201G>A" "" "" "" "TMC6(NM_001127198.2):c.1428C>T (p.P476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78121120G>A" "" "likely benign" "" "0000563263" "0" "30" "17" "76117727" "76117727" "subst" "1.34261E-5" "01943" "TMC6_000031" "g.76117727C>A" "" "" "" "TMC6(NM_001127198.2):c.1293G>T (p.A431=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78121646C>A" "" "likely benign" "" "0000563264" "0" "10" "17" "76117744" "76117744" "subst" "0.0010435" "01943" "TMC6_000032" "g.76117744C>T" "" "" "" "TMC6(NM_001127198.2):c.1276G>A (p.G426R), TMC6(NM_001127198.5):c.1276G>A (p.G426R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78121663C>T" "" "benign" "" "0000563265" "0" "30" "17" "76120166" "76120166" "subst" "0.000252242" "01943" "TMC6_000033" "g.76120166G>A" "" "" "" "TMC6(NM_001127198.2):c.986C>T (p.T329I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78124085G>A" "" "likely benign" "" "0000563266" "0" "10" "17" "76120637" "76120637" "subst" "0.00371749" "02327" "TMC6_000034" "g.76120637C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78124556C>T" "" "benign" "" "0000563267" "0" "10" "17" "76120993" "76120993" "subst" "0.00251951" "01943" "TMC6_000011" "g.76120993G>A" "" "" "" "TMC6(NM_001127198.2):c.610C>T (p.R204W), TMC6(NM_001127198.5):c.610C>T (p.R204W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78124912G>A" "" "benign" "" "0000563268" "0" "30" "17" "76121018" "76121018" "subst" "0" "01943" "TMC6_000035" "g.76121018G>A" "" "" "" "TMC6(NM_001127198.2):c.585C>T (p.S195=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78124937G>A" "" "likely benign" "" "0000563269" "0" "50" "17" "76121843" "76121843" "subst" "0" "01943" "TMC6_000036" "g.76121843C>T" "" "" "" "TMC6(NM_001127198.2):c.394G>A (p.D132N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78125762C>T" "" "VUS" "" "0000563270" "0" "10" "17" "76121864" "76121864" "subst" "0.237553" "02327" "TMC6_000015" "g.76121864A>G" "" "" "" "TMC6(NM_001127198.5):c.373T>C (p.W125R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78125783A>G" "" "benign" "" "0000563271" "0" "30" "17" "76121883" "76121883" "subst" "1.87338E-5" "01943" "TMC6_000037" "g.76121883C>T" "" "" "" "TMC6(NM_001127198.2):c.354G>A (p.G118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78125802C>T" "" "likely benign" "" "0000563272" "0" "50" "17" "76128039" "76128039" "subst" "0.000266662" "01943" "TMC6_000038" "g.76128039C>T" "" "" "" "TMC8(NM_152468.4):c.226C>T (p.R76C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78131958C>T" "" "VUS" "" "0000563274" "0" "30" "17" "76128069" "76128069" "subst" "0.000161776" "01943" "TMC6_000040" "g.76128069C>G" "" "" "" "TMC8(NM_152468.4):c.256C>G (p.R86G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78131988C>G" "" "likely benign" "" "0000563275" "0" "10" "17" "76128092" "76128092" "subst" "0.00133515" "01943" "TMC6_000041" "g.76128092G>A" "" "" "" "TMC8(NM_152468.4):c.279G>A (p.G93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78132011G>A" "" "benign" "" "0000563276" "0" "30" "17" "76128900" "76128900" "subst" "0.000272099" "01943" "TMC6_000042" "g.76128900G>A" "" "" "" "TMC8(NM_152468.4):c.480G>A (p.P160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78132819G>A" "" "likely benign" "" "0000563277" "0" "50" "17" "76129619" "76129619" "subst" "0.00188775" "01943" "TMC6_000043" "g.76129619C>T" "" "" "" "TMC8(NM_152468.4):c.664C>T (p.R222W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78133538C>T" "" "VUS" "" "0000563278" "0" "30" "17" "76129985" "76129985" "subst" "8.13584E-5" "01943" "TMC6_000044" "g.76129985G>A" "" "" "" "TMC8(NM_152468.4):c.720G>A (p.A240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78133904G>A" "" "likely benign" "" "0000563279" "0" "30" "17" "76130091" "76130091" "subst" "0.000101733" "01943" "TMC6_000045" "g.76130091C>T" "" "" "" "TMC8(NM_152468.4):c.816+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78134010C>T" "" "likely benign" "" "0000563280" "0" "10" "17" "76133908" "76133908" "subst" "0.113072" "02327" "TMC8_000019" "g.76133908G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78137827G>A" "" "benign" "" "0000563281" "0" "30" "17" "76134100" "76134100" "subst" "0.00123705" "01943" "TMC8_000020" "g.76134100G>A" "" "" "" "TMC8(NM_152468.4):c.1364G>A (p.R455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78138019G>A" "" "likely benign" "" "0000563282" "0" "10" "17" "76134525" "76134525" "subst" "0.00151066" "01943" "TMC8_000021" "g.76134525T>C" "" "" "" "TMC8(NM_152468.4):c.1629T>C (p.L543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78138444T>C" "" "benign" "" "0000563283" "0" "50" "17" "76135305" "76135305" "subst" "4.48127E-5" "01943" "TMC8_000022" "g.76135305G>T" "" "" "" "TMC8(NM_152468.4):c.1886G>T (p.R629L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78139224G>T" "" "VUS" "" "0000563284" "0" "30" "17" "76136994" "76136994" "subst" "0.00341064" "01943" "TMC8_000023" "g.76136994C>T" "" "" "" "TMC8(NM_152468.4):c.1982C>T (p.P661L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78140913C>T" "" "likely benign" "" "0000595697" "3" "90" "17" "76122409" "76122409" "subst" "0" "02484" "TMC6_000047" "g.76122409G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.78126328G>A" "" "pathogenic (recessive)" "" "0000595698" "3" "90" "17" "76121957" "76121957" "subst" "2.6936E-5" "02484" "TMC6_000048" "g.76121957G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.78125876G>A" "" "pathogenic (recessive)" "" "0000595699" "3" "90" "17" "76115463" "76115463" "subst" "0" "02484" "TMC6_000053" "g.76115463C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.78119382C>A" "" "pathogenic (recessive)" "" "0000595700" "3" "90" "17" "76120752" "76120752" "subst" "1.27063E-5" "02484" "TMC6_000050" "g.76120752G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.78124671G>T" "" "pathogenic (recessive)" "" "0000595701" "3" "90" "17" "76118803" "76118803" "subst" "1.24457E-5" "02484" "TMC6_000052" "g.76118803G>C" "" "{PMID:Youssefian 2019:30036492}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78122722G>C" "" "pathogenic (recessive)" "" "0000595703" "3" "90" "17" "76120262" "76120262" "subst" "0" "02484" "TMC6_000054" "g.76120262T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.78124181T>A" "" "pathogenic (recessive)" "" "0000595704" "3" "90" "17" "76120184" "76120184" "del" "0" "02484" "TMC6_000051" "g.76120184del" "" "" "" "968_969delT" "" "Germline" "" "" "0" "" "" "g.78124103del" "" "pathogenic (recessive)" "" "0000595705" "3" "90" "17" "76120235" "76120236" "delins" "0" "02484" "TMC6_000049" "g.76120235_76120236delinsACATG" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.78124154_78124155delinsACATG" "" "pathogenic (recessive)" "" "0000616850" "0" "50" "17" "76116758" "76116758" "subst" "3.24884E-5" "01943" "TMC8_000034" "g.76116758G>A" "" "" "" "TMC6(NM_001127198.2):c.1691C>T (p.T564M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78120677G>A" "" "VUS" "" "0000616851" "0" "30" "17" "76122886" "76122886" "subst" "1.63201E-5" "01943" "TMC8_000037" "g.76122886C>T" "" "" "" "TMC6(NM_001127198.2):c.28G>A (p.D10N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78126805C>T" "" "likely benign" "" "0000616852" "0" "10" "17" "76127857" "76127857" "dup" "0" "02327" "TMC8_000038" "g.76127857dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78131776dup" "" "benign" "" "0000616853" "0" "50" "17" "76128420" "76128420" "subst" "0" "01943" "TMC8_000039" "g.76128420A>T" "" "" "" "TMC6(NM_007267.6):c.-75+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78132339A>T" "" "VUS" "" "0000616854" "0" "30" "17" "76130576" "76130576" "subst" "0.00112948" "01943" "TMC8_000040" "g.76130576C>T" "" "" "" "TMC8(NM_152468.4):c.918C>T (p.N306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78134495C>T" "" "likely benign" "" "0000616855" "0" "30" "17" "76133356" "76133356" "subst" "0.00101998" "01943" "TMC8_000007" "g.76133356G>A" "" "" "" "TMC8(NM_152468.4):c.1168G>A (p.V390I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78137275G>A" "" "likely benign" "" "0000616856" "0" "50" "17" "76134096" "76134096" "subst" "6.10496E-5" "02325" "TMC8_000041" "g.76134096G>T" "" "" "" "TMC8(NM_152468.5):c.1360G>T (p.D454Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78138015G>T" "" "VUS" "" "0000616857" "0" "30" "17" "76137137" "76137137" "subst" "1.32357E-5" "01943" "TMC8_000042" "g.76137137C>T" "" "" "" "TMC8(NM_152468.4):c.2125C>T (p.H709Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78141056C>T" "" "likely benign" "" "0000623771" "0" "30" "17" "76113639" "76113639" "subst" "0" "01943" "TMC8_000033" "g.76113639G>A" "" "" "" "TMC6(NM_001127198.2):c.2108C>T (p.A703V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78117558G>A" "" "likely benign" "" "0000623772" "0" "30" "17" "76120954" "76120954" "subst" "0.0014146" "02326" "TMC8_000035" "g.76120954G>A" "" "" "" "TMC6(NM_007267.6):c.633+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78124873G>A" "" "likely benign" "" "0000623773" "0" "30" "17" "76122599" "76122599" "subst" "0.000712605" "02326" "TMC8_000036" "g.76122599G>A" "" "" "" "TMC6(NM_007267.6):c.181+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78126518G>A" "" "likely benign" "" "0000649719" "1" "10" "17" "76117124" "76117124" "subst" "0.0085412" "03575" "TMC6_000006" "g.76117124G>A" "6/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs75400929}" "Germline" "" "rs75400929" "0" "" "" "g.78121043G>A" "" "benign" "" "0000649720" "1" "10" "17" "76120792" "76120792" "subst" "0.00490971" "03575" "TMC6_000055" "g.76120792T>C" "23/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "23 heterozygous, no homozygous; {DB:CLININrs80354176}" "Germline" "" "rs80354176" "0" "" "" "g.78124711T>C" "" "benign" "" "0000658268" "0" "30" "17" "76116917" "76116917" "subst" "0.00334572" "02326" "TMC6_000005" "g.76116917C>T" "" "" "" "TMC6(NM_001127198.2):c.1536-4G>A, TMC6(NM_007267.6):c.1536-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78120836C>T" "" "likely benign" "" "0000658269" "0" "30" "17" "76130947" "76130947" "subst" "0.000630584" "02325" "TMC8_000004" "g.76130947G>A" "" "" "" "TMC8(NM_152468.4):c.988-4G>A, TMC8(NM_152468.5):c.988-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78134866G>A" "" "likely benign" "" "0000658270" "0" "30" "17" "76134467" "76134467" "subst" "0.00203493" "02326" "TMC8_000010" "g.76134467C>T" "" "" "" "TMC8(NM_152468.4):c.1571C>T (p.P524L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78138386C>T" "" "likely benign" "" "0000658271" "0" "30" "17" "76134495" "76134495" "subst" "0" "02326" "TMC8_000043" "g.76134495C>T" "" "" "" "TMC8(NM_152468.4):c.1599C>T (p.F533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78138414C>T" "" "likely benign" "" "0000658272" "0" "30" "17" "76135295" "76135295" "subst" "1.62807E-5" "01943" "TMC8_000044" "g.76135295C>T" "" "" "" "TMC8(NM_152468.4):c.1876C>T (p.H626Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78139214C>T" "" "likely benign" "" "0000681041" "0" "70" "17" "76113548" "76113548" "subst" "0" "02325" "TMC8_000045" "g.76113548C>T" "" "" "" "TMC6(NM_001127198.5):c.2198+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000681042" "0" "30" "17" "76115441" "76115441" "subst" "0.000499476" "02326" "TMC8_000046" "g.76115441C>T" "" "" "" "TMC6(NM_007267.6):c.1748G>A (p.R583Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681043" "0" "50" "17" "76120790" "76120790" "subst" "4.30317E-5" "02325" "TMC8_000047" "g.76120790G>A" "" "" "" "TMC6(NM_001127198.5):c.706C>T (p.R236C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681044" "0" "50" "17" "76129514" "76129514" "subst" "8.12585E-6" "02325" "TMC8_000048" "g.76129514G>A" "" "" "" "TMC8(NM_152468.5):c.559G>A (p.G187S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692482" "0" "30" "17" "76114034" "76114034" "subst" "4.98688E-5" "02326" "TMC8_000049" "g.76114034G>A" "" "" "" "TMC6(NM_007267.6):c.1888-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692483" "0" "50" "17" "76116837" "76116837" "subst" "0" "01943" "TMC8_000050" "g.76116837C>A" "" "" "" "TMC6(NM_001127198.2):c.1612G>T (p.G538C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692484" "0" "50" "17" "76120069" "76120069" "subst" "0" "01943" "TMC8_000051" "g.76120069C>T" "" "" "" "TMC6(NM_001127198.2):c.1082+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692485" "0" "30" "17" "76129534" "76129534" "subst" "5.28193E-5" "01943" "TMC8_000052" "g.76129534G>A" "" "" "" "TMC8(NM_152468.4):c.579G>A (p.P193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692486" "0" "50" "17" "76130484" "76130484" "subst" "0" "01943" "TMC8_000053" "g.76130484G>A" "" "" "" "TMC8(NM_152468.4):c.826G>A (p.E276K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692487" "0" "50" "17" "76137063" "76137063" "subst" "0" "01943" "TMC8_000054" "g.76137063C>A" "" "" "" "TMC8(NM_152468.4):c.2051C>A (p.P684Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726705" "0" "30" "17" "76113942" "76113942" "subst" "0" "02325" "TMC8_000055" "g.76113942C>T" "" "" "" "TMC6(NM_007267.7):c.1962G>A (p.T654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726706" "0" "30" "17" "76117744" "76117744" "subst" "0.0010435" "02326" "TMC6_000032" "g.76117744C>T" "" "" "" "TMC6(NM_001127198.2):c.1276G>A (p.G426R), TMC6(NM_001127198.5):c.1276G>A (p.G426R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726707" "0" "30" "17" "76117751" "76117751" "subst" "2.92352E-5" "01943" "TMC8_000056" "g.76117751G>A" "" "" "" "TMC6(NM_001127198.2):c.1269C>T (p.S423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726708" "0" "30" "17" "76128092" "76128092" "subst" "0.00133515" "02326" "TMC6_000041" "g.76128092G>A" "" "" "" "TMC8(NM_152468.4):c.279G>A (p.G93=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808281" "0" "30" "17" "76109263" "76109263" "subst" "0.000316436" "01943" "TMC8_000057" "g.76109263G>A" "" "" "" "TMC6(NM_001127198.2):c.2384C>T (p.P795L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808282" "0" "50" "17" "76115394" "76115394" "subst" "0.000129948" "01943" "TMC8_000058" "g.76115394C>A" "" "" "" "TMC6(NM_001127198.2):c.1795G>T (p.G599W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808283" "0" "50" "17" "76117783" "76117783" "subst" "0.0007095" "02325" "TMC8_000059" "g.76117783C>G" "" "" "" "TMC6(NM_007267.6):c.1237G>C (p.A413P), TMC6(NM_007267.7):c.1237G>C (p.A413P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808284" "0" "30" "17" "76129615" "76129615" "subst" "0.000754609" "01943" "TMC8_000060" "g.76129615T>C" "" "" "" "TMC8(NM_152468.4):c.660T>C (p.T220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855121" "0" "30" "17" "76116924" "76116924" "subst" "0.000245539" "02326" "TMC8_000061" "g.76116924C>T" "" "" "" "TMC6(NM_007267.6):c.1536-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855122" "0" "30" "17" "76120614" "76120614" "subst" "0" "01943" "TMC8_000062" "g.76120614G>A" "" "" "" "TMC6(NM_001127198.2):c.882C>T (p.L294=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855123" "0" "50" "17" "76121860" "76121860" "subst" "0" "02325" "TMC8_000065" "g.76121860G>A" "" "" "" "TMC6(NM_007267.7):c.377C>T (p.P126L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855124" "0" "50" "17" "76121897" "76121897" "subst" "0.000251162" "02325" "TMC8_000066" "g.76121897G>A" "" "" "" "TMC6(NM_007267.7):c.340C>T (p.R114W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855125" "0" "30" "17" "76129615" "76129615" "subst" "0.000754609" "02326" "TMC8_000060" "g.76129615T>C" "" "" "" "TMC8(NM_152468.4):c.660T>C (p.T220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855126" "0" "30" "17" "76134100" "76134100" "subst" "0.00123705" "02326" "TMC8_000020" "g.76134100G>A" "" "" "" "TMC8(NM_152468.4):c.1364G>A (p.R455Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855127" "0" "30" "17" "76134198" "76134198" "subst" "0.00115" "01943" "TMC8_000071" "g.76134198G>A" "" "" "" "TMC8(NM_152468.4):c.1462G>A (p.G488S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855128" "0" "30" "17" "76134636" "76134636" "subst" "0.000427124" "02326" "TMC8_000072" "g.76134636C>T" "" "" "" "TMC8(NM_152468.4):c.1665-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865519" "0" "50" "17" "76120673" "76120673" "subst" "7.06309E-5" "01943" "TMC8_000063" "g.76120673C>A" "" "" "" "TMC6(NM_001127198.2):c.823G>T (p.V275F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865520" "0" "50" "17" "76121249" "76121249" "subst" "0.000336912" "01943" "TMC8_000064" "g.76121249G>A" "" "" "" "TMC6(NM_001127198.2):c.526C>T (p.R176C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865521" "0" "30" "17" "76127956" "76127956" "subst" "0" "02326" "TMC8_000067" "g.76127956C>T" "" "" "" "TMC8(NM_152468.4):c.150-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865522" "0" "30" "17" "76130475" "76130475" "subst" "0" "01943" "TMC8_000068" "g.76130475G>A" "" "" "" "TMC8(NM_152468.4):c.817G>A (p.V273M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865523" "0" "30" "17" "76130534" "76130534" "subst" "0.00010171" "01943" "TMC8_000069" "g.76130534G>A" "" "" "" "TMC8(NM_152468.4):c.876G>A (p.T292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865524" "0" "30" "17" "76134078" "76134078" "subst" "0.00116938" "02326" "TMC8_000070" "g.76134078C>T" "" "" "" "TMC8(NM_152468.4):c.1350-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894312" "0" "50" "17" "76109657" "76109657" "subst" "2.03074E-5" "02325" "TMC8_000073" "g.76109657C>T" "" "" "" "TMC6(NM_007267.7):c.2326G>A (p.E776K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894313" "0" "30" "17" "76113452" "76113463" "del" "0" "02326" "TMC8_000074" "g.76113452_76113463del" "" "" "" "TMC6(NM_007267.6):c.2199-31_2199-20delTGGGCCCTGCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894314" "0" "30" "17" "76113654" "76113654" "subst" "6.58428E-5" "02326" "TMC8_000075" "g.76113654A>G" "" "" "" "TMC6(NM_007267.6):c.2093T>C (p.V698A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894315" "0" "30" "17" "76121868" "76121868" "subst" "0.000845816" "02326" "TMC8_000076" "g.76121868G>A" "" "" "" "TMC6(NM_007267.6):c.369C>T (p.S123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894316" "0" "30" "17" "76122351" "76122351" "subst" "0.000286902" "02326" "TMC8_000077" "g.76122351C>T" "" "" "" "TMC6(NM_007267.6):c.271+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894317" "0" "30" "17" "76130091" "76130091" "subst" "0.000101733" "02326" "TMC6_000045" "g.76130091C>T" "" "" "" "TMC8(NM_152468.4):c.816+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894318" "0" "50" "17" "76134666" "76134666" "subst" "1.21939E-5" "02327" "TMC8_000078" "g.76134666C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914984" "0" "30" "17" "76113352" "76113352" "subst" "4.88138E-5" "02326" "TMC8_000079" "g.76113352T>C" "" "" "" "TMC6(NM_007267.6):c.2275A>G (p.N759D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926647" "0" "30" "17" "76120809" "76120809" "subst" "0.000256728" "02326" "TMC8_000080" "g.76120809C>T" "" "" "" "TMC6(NM_007267.6):c.687G>A (p.P229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926648" "0" "30" "17" "76121981" "76121981" "subst" "0.000646259" "02326" "TMC8_000081" "g.76121981G>C" "" "" "" "TMC6(NM_007267.6):c.272-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926649" "0" "30" "17" "76130576" "76130576" "subst" "0.00112948" "02326" "TMC8_000040" "g.76130576C>T" "" "" "" "TMC8(NM_152468.4):c.918C>T (p.N306=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926650" "0" "10" "17" "76133397" "76133397" "subst" "0.00127141" "02326" "TMC8_000082" "g.76133397G>A" "" "" "" "TMC8(NM_152468.4):c.1209G>A (p.K403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000930893" "0" "30" "17" "76116882" "76116882" "subst" "0" "02326" "TMC8_000083" "g.76116882T>C" "" "" "" "TMC6(NM_007267.6):c.1567A>G (p.T523A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930894" "0" "30" "17" "76117783" "76117783" "subst" "0.0007095" "02326" "TMC8_000059" "g.76117783C>G" "" "" "" "TMC6(NM_007267.6):c.1237G>C (p.A413P), TMC6(NM_007267.7):c.1237G>C (p.A413P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930895" "0" "30" "17" "76121885" "76121885" "subst" "0" "02326" "TMC8_000084" "g.76121885C>T" "" "" "" "TMC6(NM_007267.6):c.352G>A (p.G118R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930896" "0" "50" "17" "76133406" "76133406" "subst" "6.49878E-5" "02325" "TMC8_000085" "g.76133406T>G" "" "" "" "TMC8(NM_152468.5):c.1218T>G (p.C406W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930897" "0" "30" "17" "76134525" "76134525" "subst" "0.00151066" "02326" "TMC8_000021" "g.76134525T>C" "" "" "" "TMC8(NM_152468.4):c.1629T>C (p.L543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930898" "0" "30" "17" "76136989" "76136989" "subst" "7.44974E-5" "02326" "TMC8_000086" "g.76136989G>A" "" "" "" "TMC8(NM_152468.4):c.1977G>A (p.P659=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951050" "0" "30" "17" "76122651" "76122651" "subst" "0.000207331" "02326" "TMC6_000017" "g.76122651C>T" "" "" "" "TMC6(NM_001127198.2):c.135G>A (p.T45=), TMC6(NM_007267.6):c.135G>A (p.T45=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969243" "0" "10" "17" "76120792" "76120792" "subst" "0.00490971" "02326" "TMC6_000055" "g.76120792T>C" "" "" "" "TMC6(NM_007267.6):c.704A>G (p.K235R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982825" "0" "10" "17" "76117158" "76117158" "subst" "0.00116273" "02326" "TMC8_000087" "g.76117158G>A" "" "" "" "TMC6(NM_007267.6):c.1471C>T (p.R491C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982826" "0" "30" "17" "76121922" "76121922" "subst" "0.000947811" "01804" "TMC6_000016" "g.76121922C>T" "" "" "" "TMC6(NM_001127198.5):c.315G>A (p.(Thr105=)), TMC6(NM_007267.6):c.315G>A (p.T105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 TMC6 ## Count = 152 "{{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}}" "0000248863" "00025464" "10" "-2228" "0" "-2228" "0" "c.-2228T>A" "r.(?)" "p.(=)" "" "0000248947" "00025464" "10" "373" "0" "373" "0" "c.373T>C" "r.(?)" "p.(Trp125Arg)" "" "0000249231" "00025464" "10" "1082" "5" "1082" "5" "c.1082+5T>C" "r.spl?" "p.?" "" "0000311860" "00025464" "10" "1083" "-4" "1083" "-4" "c.1083-4C>G" "r.spl?" "p.?" "" "0000311861" "00025464" "10" "-8851" "0" "-8851" "0" "c.-8851A>C" "r.(?)" "p.(=)" "" "0000311862" "00025464" "10" "-2723" "0" "-2723" "0" "c.-2723C>T" "r.(?)" "p.(=)" "" "0000311863" "00025464" "10" "-6481" "0" "-6481" "0" "c.-6481G>T" "r.(?)" "p.(=)" "" "0000311864" "00025464" "10" "-1289" "0" "-1289" "0" "c.-1289A>G" "r.(?)" "p.(=)" "" "0000314528" "00025464" "30" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Pro502Leu)" "" "0000314529" "00025464" "30" "1716" "-6" "1716" "-6" "c.1716-6del" "r.(=)" "p.(=)" "" "0000314530" "00025464" "50" "2022" "-14" "2022" "-14" "c.2022-14G>A" "r.(=)" "p.(=)" "" "0000314531" "00025464" "10" "2355" "-4" "2355" "-4" "c.2355-4G>A" "r.spl?" "p.?" "" "0000314532" "00025464" "30" "315" "0" "315" "0" "c.315G>A" "r.(?)" "p.(Thr105=)" "" "0000314533" "00025464" "30" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Trp)" "" "0000314534" "00025464" "10" "-2640" "0" "-2640" "0" "c.-2640C>A" "r.(?)" "p.(=)" "" "0000314535" "00025464" "30" "-5009" "0" "-5009" "0" "c.-5009C>T" "r.(?)" "p.(=)" "" "0000314536" "00025464" "10" "-5725" "0" "-5725" "0" "c.-5725A>C" "r.(?)" "p.(=)" "" "0000314537" "00025464" "10" "-5890" "0" "-5890" "0" "c.-5890C>T" "r.(?)" "p.(=)" "" "0000314538" "00025464" "10" "-6303" "0" "-6303" "0" "c.-6303C>A" "r.(?)" "p.(=)" "" "0000314539" "00025464" "10" "-1583" "0" "-1583" "0" "c.-1583C>G" "r.(?)" "p.(=)" "" "0000314540" "00025464" "10" "-75" "676" "-75" "676" "c.-75+676A>G" "r.(=)" "p.(=)" "" "0000314541" "00025464" "10" "-2600" "0" "-2600" "0" "c.-2600C>T" "r.(?)" "p.(=)" "" "0000316655" "00025464" "30" "1071" "0" "1071" "0" "c.1071C>T" "r.(?)" "p.(Thr357=)" "" "0000316656" "00025464" "30" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Thr45=)" "" "0000316657" "00025464" "30" "1536" "-4" "1536" "-4" "c.1536-4G>A" "r.spl?" "p.?" "" "0000316658" "00025464" "10" "393" "0" "393" "0" "c.393C>T" "r.(?)" "p.(Tyr131=)" "" "0000316659" "00025464" "10" "457" "0" "457" "0" "c.457C>T" "r.(?)" "p.(Leu153Phe)" "" "0000316660" "00025464" "50" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Arg166Cys)" "" "0000316661" "00025464" "30" "-6120" "0" "-6120" "0" "c.-6120G>A" "r.(?)" "p.(=)" "" "0000316662" "00025464" "30" "-6368" "0" "-6368" "0" "c.-6368G>A" "r.(?)" "p.(=)" "" "0000316663" "00025464" "30" "-8560" "0" "-8558" "0" "c.-8560_-8558del" "r.(?)" "p.(=)" "" "0000316664" "00025464" "30" "-8579" "0" "-8579" "0" "c.-8579C>T" "r.(?)" "p.(=)" "" "0000325656" "00025464" "30" "1266" "0" "1266" "0" "c.1266G>C" "r.(?)" "p.(Arg422Ser)" "" "0000338721" "00025464" "10" "1811" "77" "1811" "77" "c.1811+77C>T" "r.(=)" "p.(=)" "" "0000338722" "00025464" "10" "1811" "25" "1811" "25" "c.1811+25A>G" "r.(=)" "p.(=)" "" "0000338723" "00025464" "10" "1082" "5" "1082" "5" "c.1082+5T>C" "r.spl?" "p.?" "" "0000338724" "00025464" "30" "891" "17" "891" "17" "c.891+17A>G" "r.(=)" "p.(=)" "" "0000338725" "00025464" "10" "-1289" "0" "-1289" "0" "c.-1289A>G" "r.(?)" "p.(=)" "" "0000338726" "00025464" "10" "-2600" "0" "-2600" "0" "c.-2600C>A" "r.(?)" "p.(=)" "" "0000338727" "00025464" "30" "-5955" "0" "-5955" "0" "c.-5955C>T" "r.(?)" "p.(=)" "" "0000338728" "00025464" "10" "-6481" "0" "-6481" "0" "c.-6481G>T" "r.(?)" "p.(=)" "" "0000338729" "00025464" "10" "-8851" "0" "-8851" "0" "c.-8851A>C" "r.(?)" "p.(=)" "" "0000340440" "00025464" "10" "-2723" "0" "-2723" "0" "c.-2723C>T" "r.(?)" "p.(=)" "" "0000343698" "00025464" "10" "-2228" "0" "-2228" "0" "c.-2228T>A" "r.(?)" "p.(=)" "" "0000563256" "00025464" "30" "2355" "-9" "2355" "-9" "c.2355-9T>C" "r.(=)" "p.(=)" "" "0000563257" "00025464" "10" "2021" "45" "2021" "45" "c.2021+45G>T" "r.(=)" "p.(=)" "" "0000563258" "00025464" "10" "1950" "0" "1950" "0" "c.1950C>T" "r.(?)" "p.(Thr650=)" "" "0000563259" "00025464" "30" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(Ala615=)" "" "0000563260" "00025464" "10" "1812" "-54" "1812" "-54" "c.1812-54T>A" "r.(=)" "p.(=)" "" "0000563261" "00025464" "10" "1536" "-88" "1536" "-88" "c.1536-88G>A" "r.(=)" "p.(=)" "" "0000563262" "00025464" "30" "1428" "0" "1428" "0" "c.1428C>T" "r.(?)" "p.(Pro476=)" "" "0000563263" "00025464" "30" "1293" "0" "1293" "0" "c.1293G>T" "r.(?)" "p.(Ala431=)" "" "0000563264" "00025464" "10" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Arg)" "" "0000563265" "00025464" "30" "986" "0" "986" "0" "c.986C>T" "r.(?)" "p.(Thr329Ile)" "" "0000563266" "00025464" "10" "859" "0" "859" "0" "c.859G>A" "r.(?)" "p.(Val287Ile)" "" "0000563267" "00025464" "10" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Arg204Trp)" "" "0000563268" "00025464" "30" "585" "0" "585" "0" "c.585C>T" "r.(?)" "p.(Ser195=)" "" "0000563269" "00025464" "50" "394" "0" "394" "0" "c.394G>A" "r.(?)" "p.(Asp132Asn)" "" "0000563270" "00025464" "10" "373" "0" "373" "0" "c.373T>C" "r.(?)" "p.(Trp125Arg)" "" "0000563271" "00025464" "30" "354" "0" "354" "0" "c.354G>A" "r.(?)" "p.(Gly118=)" "" "0000563272" "00025464" "50" "-75" "383" "-75" "383" "c.-75+383G>A" "r.(=)" "p.(=)" "" "0000563274" "00025464" "30" "-75" "353" "-75" "353" "c.-75+353G>C" "r.(=)" "p.(=)" "" "0000563275" "00025464" "10" "-75" "330" "-75" "330" "c.-75+330C>T" "r.(=)" "p.(=)" "" "0000563276" "00025464" "30" "-553" "0" "-553" "0" "c.-553C>T" "r.(?)" "p.(=)" "" "0000563277" "00025464" "50" "-1272" "0" "-1272" "0" "c.-1272G>A" "r.(?)" "p.(=)" "" "0000563278" "00025464" "30" "-1638" "0" "-1638" "0" "c.-1638C>T" "r.(?)" "p.(=)" "" "0000563279" "00025464" "30" "-1744" "0" "-1744" "0" "c.-1744G>A" "r.(?)" "p.(=)" "" "0000563280" "00025464" "10" "-5561" "0" "-5561" "0" "c.-5561C>T" "r.(?)" "p.(=)" "" "0000563281" "00025464" "30" "-5753" "0" "-5753" "0" "c.-5753C>T" "r.(?)" "p.(=)" "" "0000563282" "00025464" "10" "-6178" "0" "-6178" "0" "c.-6178A>G" "r.(?)" "p.(=)" "" "0000563283" "00025464" "50" "-6958" "0" "-6958" "0" "c.-6958C>A" "r.(?)" "p.(=)" "" "0000563284" "00025464" "30" "-8647" "0" "-8647" "0" "c.-8647G>A" "r.(?)" "p.(=)" "" "0000595697" "00025464" "90" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Gln74*)" "4" "0000595698" "00025464" "90" "280" "0" "280" "0" "c.280C>T" "r.(?)" "p.(Arg94*)" "5" "0000595699" "00025464" "90" "1726" "0" "1726" "0" "c.1726G>T" "r.(?)" "p.(Glu576*)" "14" "0000595700" "00025464" "90" "744" "0" "744" "0" "c.744C>A" "r.(?)" "p.(Tyr248*)" "8" "0000595701" "00025464" "90" "1110" "0" "1110" "0" "c.1110C>G" "r.(?)" "p.(Tyr370*)" "10" "0000595703" "00025464" "90" "892" "-2" "892" "-2" "c.892-2A>T" "r.spl" "p.?" "" "0000595704" "00025464" "90" "968" "0" "968" "0" "c.968del" "r.(?)" "p.(Leu323Argfs*27)" "9" "0000595705" "00025464" "00" "916" "0" "917" "0" "c.916_917delinsCATGT" "r.(?)" "p.(Tyr306delinsHisVal)" "" "0000616850" "00025464" "50" "1691" "0" "1691" "0" "c.1691C>T" "r.(?)" "p.(Thr564Met)" "" "0000616851" "00025464" "30" "28" "0" "28" "0" "c.28G>A" "r.(?)" "p.(Asp10Asn)" "" "0000616852" "00025464" "10" "-75" "572" "-75" "572" "c.-75+572dup" "r.(=)" "p.(=)" "" "0000616853" "00025464" "50" "-75" "2" "-75" "2" "c.-75+2T>A" "r.spl?" "p.?" "" "0000616854" "00025464" "30" "-2229" "0" "-2229" "0" "c.-2229G>A" "r.(?)" "p.(=)" "" "0000616855" "00025464" "30" "-5009" "0" "-5009" "0" "c.-5009C>T" "r.(?)" "p.(=)" "" "0000616856" "00025464" "50" "-5749" "0" "-5749" "0" "c.-5749C>A" "r.(?)" "p.(=)" "" "0000616857" "00025464" "30" "-8790" "0" "-8790" "0" "c.-8790G>A" "r.(?)" "p.(=)" "" "0000623771" "00025464" "30" "2108" "0" "2108" "0" "c.2108C>T" "r.(?)" "p.(Ala703Val)" "" "0000623772" "00025464" "30" "633" "16" "633" "16" "c.633+16C>T" "r.(=)" "p.(=)" "" "0000623773" "00025464" "30" "181" "6" "181" "6" "c.181+6C>T" "r.(=)" "p.(=)" "" "0000649719" "00025464" "10" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Pro502Leu)" "" "0000649720" "00025464" "10" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.(Lys235Arg)" "" "0000658268" "00025464" "30" "1536" "-4" "1536" "-4" "c.1536-4G>A" "r.spl?" "p.?" "" "0000658269" "00025464" "30" "-2600" "0" "-2600" "0" "c.-2600C>T" "r.(?)" "p.(=)" "" "0000658270" "00025464" "30" "-6120" "0" "-6120" "0" "c.-6120G>A" "r.(?)" "p.(=)" "" "0000658271" "00025464" "30" "-6148" "0" "-6148" "0" "c.-6148G>A" "r.(?)" "p.(=)" "" "0000658272" "00025464" "30" "-6948" "0" "-6948" "0" "c.-6948G>A" "r.(?)" "p.(=)" "" "0000681041" "00025464" "70" "2198" "1" "2198" "1" "c.2198+1G>A" "r.spl?" "p.?" "" "0000681042" "00025464" "30" "1748" "0" "1748" "0" "c.1748G>A" "r.(?)" "p.(Arg583Gln)" "" "0000681043" "00025464" "50" "706" "0" "706" "0" "c.706C>T" "r.(?)" "p.(Arg236Cys)" "" "0000681044" "00025464" "50" "-1167" "0" "-1167" "0" "c.-1167C>T" "r.(?)" "p.(=)" "" "0000692482" "00025464" "30" "1888" "-18" "1888" "-18" "c.1888-18C>T" "r.(=)" "p.(=)" "" "0000692483" "00025464" "50" "1612" "0" "1612" "0" "c.1612G>T" "r.(?)" "p.(Gly538Cys)" "" "0000692484" "00025464" "50" "1082" "1" "1082" "1" "c.1082+1G>A" "r.spl?" "p.?" "" "0000692485" "00025464" "30" "-1187" "0" "-1187" "0" "c.-1187C>T" "r.(?)" "p.(=)" "" "0000692486" "00025464" "50" "-2137" "0" "-2137" "0" "c.-2137C>T" "r.(?)" "p.(=)" "" "0000692487" "00025464" "50" "-8716" "0" "-8716" "0" "c.-8716G>T" "r.(?)" "p.(=)" "" "0000726705" "00025464" "30" "1962" "0" "1962" "0" "c.1962G>A" "r.(?)" "p.(Thr654=)" "" "0000726706" "00025464" "30" "1276" "0" "1276" "0" "c.1276G>A" "r.(?)" "p.(Gly426Arg)" "" "0000726707" "00025464" "30" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Ser423=)" "" "0000726708" "00025464" "30" "-75" "330" "-75" "330" "c.-75+330C>T" "r.(=)" "p.(=)" "" "0000808281" "00025464" "30" "2384" "0" "2384" "0" "c.2384C>T" "r.(?)" "p.(Pro795Leu)" "" "0000808282" "00025464" "50" "1795" "0" "1795" "0" "c.1795G>T" "r.(?)" "p.(Gly599Trp)" "" "0000808283" "00025464" "50" "1237" "0" "1237" "0" "c.1237G>C" "r.(?)" "p.(Ala413Pro)" "" "0000808284" "00025464" "30" "-1268" "0" "-1268" "0" "c.-1268A>G" "r.(?)" "p.(=)" "" "0000855121" "00025464" "30" "1536" "-11" "1536" "-11" "c.1536-11G>A" "r.(=)" "p.(=)" "" "0000855122" "00025464" "30" "882" "0" "882" "0" "c.882C>T" "r.(?)" "p.(Leu294=)" "" "0000855123" "00025464" "50" "377" "0" "377" "0" "c.377C>T" "r.(?)" "p.(Pro126Leu)" "" "0000855124" "00025464" "50" "340" "0" "340" "0" "c.340C>T" "r.(?)" "p.(Arg114Trp)" "" "0000855125" "00025464" "30" "-1268" "0" "-1268" "0" "c.-1268A>G" "r.(?)" "p.(=)" "" "0000855126" "00025464" "30" "-5753" "0" "-5753" "0" "c.-5753C>T" "r.(?)" "p.(=)" "" "0000855127" "00025464" "30" "-5851" "0" "-5851" "0" "c.-5851C>T" "r.(?)" "p.(=)" "" "0000855128" "00025464" "30" "-6289" "0" "-6289" "0" "c.-6289G>A" "r.(?)" "p.(=)" "" "0000865519" "00025464" "50" "823" "0" "823" "0" "c.823G>T" "r.(?)" "p.(Val275Phe)" "" "0000865520" "00025464" "50" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Cys)" "" "0000865521" "00025464" "30" "-75" "466" "-75" "466" "c.-75+466G>A" "r.(=)" "p.(=)" "" "0000865522" "00025464" "30" "-2128" "0" "-2128" "0" "c.-2128C>T" "r.(?)" "p.(=)" "" "0000865523" "00025464" "30" "-2187" "0" "-2187" "0" "c.-2187C>T" "r.(?)" "p.(=)" "" "0000865524" "00025464" "30" "-5731" "0" "-5731" "0" "c.-5731G>A" "r.(?)" "p.(=)" "" "0000894312" "00025464" "50" "2326" "0" "2326" "0" "c.2326G>A" "r.(?)" "p.(Glu776Lys)" "" "0000894313" "00025464" "30" "2199" "-31" "2199" "-20" "c.2199-31_2199-20del" "r.(=)" "p.(=)" "" "0000894314" "00025464" "30" "2093" "0" "2093" "0" "c.2093T>C" "r.(?)" "p.(Val698Ala)" "" "0000894315" "00025464" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Ser123=)" "" "0000894316" "00025464" "30" "271" "7" "271" "7" "c.271+7G>A" "r.(=)" "p.(=)" "" "0000894317" "00025464" "30" "-1744" "0" "-1744" "0" "c.-1744G>A" "r.(?)" "p.(=)" "" "0000894318" "00025464" "50" "-6319" "0" "-6319" "0" "c.-6319G>A" "r.(?)" "p.(=)" "" "0000914984" "00025464" "30" "2275" "0" "2275" "0" "c.2275A>G" "r.(?)" "p.(Asn759Asp)" "" "0000926647" "00025464" "30" "687" "0" "687" "0" "c.687G>A" "r.(?)" "p.(Pro229=)" "" "0000926648" "00025464" "30" "272" "-16" "272" "-16" "c.272-16C>G" "r.(=)" "p.(=)" "" "0000926649" "00025464" "30" "-2229" "0" "-2229" "0" "c.-2229G>A" "r.(?)" "p.(=)" "" "0000926650" "00025464" "10" "-5050" "0" "-5050" "0" "c.-5050C>T" "r.(?)" "p.(=)" "" "0000930893" "00025464" "30" "1567" "0" "1567" "0" "c.1567A>G" "r.(?)" "p.(Thr523Ala)" "" "0000930894" "00025464" "30" "1237" "0" "1237" "0" "c.1237G>C" "r.(?)" "p.(Ala413Pro)" "" "0000930895" "00025464" "30" "352" "0" "352" "0" "c.352G>A" "r.(?)" "p.(Gly118Arg)" "" "0000930896" "00025464" "50" "-5059" "0" "-5059" "0" "c.-5059A>C" "r.(?)" "p.(=)" "" "0000930897" "00025464" "30" "-6178" "0" "-6178" "0" "c.-6178A>G" "r.(?)" "p.(=)" "" "0000930898" "00025464" "30" "-8642" "0" "-8642" "0" "c.-8642C>T" "r.(?)" "p.(=)" "" "0000951050" "00025464" "30" "135" "0" "135" "0" "c.135G>A" "r.(?)" "p.(Thr45=)" "" "0000969243" "00025464" "10" "704" "0" "704" "0" "c.704A>G" "r.(?)" "p.(Lys235Arg)" "" "0000982825" "00025464" "10" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491Cys)" "" "0000982826" "00025464" "30" "315" "0" "315" "0" "c.315G>A" "r.(?)" "p.(Thr105=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000265117" "0000595697" "0000265118" "0000595698" "0000265120" "0000595699" "0000265121" "0000595700" "0000265122" "0000595701" "0000265123" "0000595703" "0000265125" "0000595704" "0000265126" "0000595705" "0000293030" "0000649719" "0000293031" "0000649720"