### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SERPINB6) # 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}}" "SERPINB6" "serpin peptidase inhibitor, clade B (ovalbumin), member 6" "6" "p25.2" "unknown" "NC_000006.11" "UD_132084516011" "" "https://www.LOVD.nl/SERPINB6" "" "1" "8950" "5269" "173321" "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/SERPINB6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-11-07 21:08:34" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00018715" "SERPINB6" "transcript variant 2" "002" "NM_001195291.1" "" "NP_001182220.1" "" "" "" "-778" "1270" "1131" "2972399" "2948393" "" "0000-00-00 00:00:00" "" "" "00025342" "SERPINB6" "transcript variant 1" "001" "NM_004568.5" "" "NP_004559.4" "" "" "" "-643" "1270" "1131" "2972399" "2948393" "00008" "2018-11-19 23:56:35" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03337" "DFNB91" "deafness, autosomal recessive, type 91 (DFNB-91)" "AR" "613453" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04294" "SNHL" "hearing loss, sensorineural (SNHL)" "" "" "" "" "" "00006" "2015-06-22 12:14:54" "00006" "2015-10-23 11:42:37" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SERPINB6" "03337" "SERPINB6" "05400" ## Individuals ## Do not remove or alter this header ## ## Count = 20 "{{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}}" "00207332" "" "" "" "2" "" "00000" "" "2 patients from 2 unrelated patients" "" "" "" "" "0" "" "" "" "" "00207333" "" "" "" "1" "" "00000" "" "heterozygous patient" "" "" "" "" "0" "" "" "" "" "00207334" "" "" "" "3" "" "00000" "" "3 patients from 2 unrelated patients" "" "" "" "" "0" "" "" "" "" "00207335" "" "" "" "1" "" "00000" "" "heterozygous patient" "" "" "" "" "0" "" "" "" "" "00207336" "" "" "" "1" "" "00000" "" "heterozygous patient" "" "" "" "" "0" "" "" "" "" "00207337" "" "" "" "8" "" "00000" "" "8 patients from 8 unrelated patients" "" "" "" "" "0" "" "" "" "" "00207338" "" "" "" "1" "" "00000" "" "affected sister non-carrier" "" "" "Turkey" "" "0" "" "" "" "" "00207339" "" "" "" "5" "" "00000" "" "5-generation family, 5 affecteds" "" "yes" "Turkey" "" "0" "" "" "" "" "00283400" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283401" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283402" "" "" "" "1" "" "00004" "{PMID:Sirmaci 2010:20451170}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283403" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283404" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283405" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283406" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283407" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283408" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283409" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283410" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00441468" "" "" "" "1" "" "00006" "{PMID:Mahmood 2021:33997018}" "6-generation family, 2 affected (2M), unaffected heterozygous parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "Punjab" "LUHL01" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00207332" "04294" "00207333" "04294" "00207334" "04294" "00207335" "04294" "00207336" "04294" "00207337" "04294" "00207338" "04294" "00207339" "04294" "00441468" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03337, 04294, 05086, 05400 ## Count = 9 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000155114" "04294" "00207332" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000155115" "04294" "00207333" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000155116" "04294" "00207334" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000155117" "04294" "00207335" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000155118" "04294" "00207336" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000155119" "04294" "00207337" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000155120" "04294" "00207338" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000155121" "04294" "00207339" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000330908" "05086" "00441468" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "congenital hearing loss" ## Screenings ## Do not remove or alter this header ## ## Count = 20 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000208368" "00207332" "1" "00000" "00115" "2010-06-10 23:12:36" "" "" "SEQ" "DNA" "" "" "0000208369" "00207333" "1" "00000" "00115" "2010-06-10 23:12:36" "" "" "SEQ" "DNA" "" "" "0000208370" "00207334" "1" "00000" "00115" "2010-06-10 23:12:36" "" "" "SEQ" "DNA" "" "" "0000208371" "00207335" "1" "00000" "00115" "2010-06-10 23:12:36" "" "" "SEQ" "DNA" "" "" "0000208372" "00207336" "1" "00000" "00115" "2010-06-10 23:12:36" "" "" "SEQ" "DNA" "" "" "0000208373" "00207337" "1" "00000" "00115" "2010-06-10 23:12:36" "" "" "SEQ" "DNA" "" "" "0000208374" "00207338" "1" "00000" "00115" "2010-06-10 23:12:36" "" "" "SEQ" "DNA" "" "" "0000208375" "00207339" "1" "00000" "00115" "2010-06-10 23:12:36" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000284550" "00283400" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284551" "00283401" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284552" "00283402" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284553" "00283403" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284554" "00283404" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284555" "00283405" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284556" "00283406" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284557" "00283407" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284558" "00283408" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284559" "00283409" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284560" "00283410" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000442954" "00441468" "1" "00006" "00006" "2023-11-07 21:00:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000208368" "SERPINB6" "0000208369" "SERPINB6" "0000208370" "SERPINB6" "0000208371" "SERPINB6" "0000208372" "SERPINB6" "0000208373" "SERPINB6" "0000208374" "SERPINB6" "0000208375" "SERPINB6" "0000284550" "SERPINB6" "0000284551" "SERPINB6" "0000284552" "SERPINB6" "0000284553" "SERPINB6" "0000284554" "SERPINB6" "0000284555" "SERPINB6" "0000284556" "SERPINB6" "0000284557" "SERPINB6" "0000284558" "SERPINB6" "0000284559" "SERPINB6" "0000284560" "SERPINB6" ## 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 = 36 "{{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}}" "0000298118" "0" "10" "6" "2959513" "2959513" "subst" "0.348496" "02325" "SERPINB6_000016" "g.2959513C>T" "" "" "" "SERPINB6(NM_001195291.3):c.66G>A (p.T22=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2959279C>T" "" "benign" "" "0000307910" "0" "30" "6" "2948627" "2948627" "subst" "0.000889651" "01943" "SERPINB6_000012" "g.2948627C>T" "" "" "" "SERPINB6(NM_001195291.2):c.1048G>A (p.V350I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2948393C>T" "" "likely benign" "" "0000307911" "0" "30" "6" "2948553" "2948553" "subst" "6.09528E-5" "01943" "SERPINB6_000011" "g.2948553G>A" "" "" "" "SERPINB6(NM_001297699.1):c.1110C>T (p.C370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2948319G>A" "" "likely benign" "" "0000307912" "0" "50" "6" "2955883" "2955883" "subst" "4.46835E-5" "01943" "SERPINB6_000015" "g.2955883C>T" "" "" "" "SERPINB6(NM_001297699.1):c.187G>A (p.G63S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2955649C>T" "" "VUS" "" "0000307913" "0" "50" "6" "2954942" "2954942" "subst" "0.000446897" "01943" "SERPINB6_000014" "g.2954942G>T" "" "" "" "SERPINB6(NM_001195291.2):c.326C>A (p.S109Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2954708G>T" "" "VUS" "" "0000307914" "0" "30" "6" "2953410" "2953410" "subst" "8.12183E-5" "01943" "SERPINB6_000013" "g.2953410C>T" "" "" "" "SERPINB6(NM_001195291.2):c.453G>A (p.A151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2953176C>T" "" "likely benign" "" "0000344952" "0" "50" "6" "2955853" "2955853" "subst" "8.1217E-6" "02327" "SERPINB6_000017" "g.2955853G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.2955619G>A" "" "VUS" "" "0000438202" "11" "35" "6" "0" "0" "subst" "0" "00000" "SERPINB6_000002" "g.?" "" "{PMID:Sirmaci 2010:20451170}" "" "c.68G>A (p.(Cys23Tyr))" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000438203" "21" "35" "6" "0" "0" "subst" "0" "00000" "SERPINB6_000002" "g.?" "" "{PMID:Sirmaci 2010:20451170}" "" "c.68G>A (p.(Cys23Tyr))" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000438204" "1" "35" "6" "2971719" "2971719" "subst" "0" "00000" "SERPINB6_000008" "g.2971719A>T" "" "{PMID:Sirmaci 2010:20451170}" "" "IVS1+6T>A" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000438205" "1" "35" "6" "2959446" "2959446" "subst" "0.000475084" "00000" "SERPINB6_000003" "g.2959446C>T" "" "{PMID:Sirmaci 2010:20451170}" "" "" "" "Germline" "" "" "0" "" "" "g.2959212C>T" "" "likely benign" "" "0000438206" "1" "35" "6" "2954948" "2954948" "subst" "0" "00000" "SERPINB6_000007" "g.2954948C>G" "" "{PMID:Sirmaci 2010:20451170}" "" "IVS3-5G>C (c.312-5G>C)" "Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000438207" "1" "35" "6" "2953391" "2953391" "subst" "0" "00000" "SERPINB6_000004" "g.2953391A>G" "" "{PMID:Sirmaci 2010:20451170}" "" "" "" "Germline" "" "" "0" "" "" "g.2953157A>G" "" "likely benign" "" "0000438208" "1" "35" "6" "2949164" "2949164" "subst" "0" "00000" "SERPINB6_000005" "g.2949164G>T" "" "{PMID:Sirmaci 2010:20451170}" "" "" "" "Germline" "" "" "0" "" "" "g.2948930G>T" "" "likely benign" "" "0000438209" "1" "35" "6" "2949152" "2949152" "subst" "0.000649704" "00000" "SERPINB6_000006" "g.2949152C>T" "" "{PMID:Sirmaci 2010:20451170}" "" "" "" "Germline" "" "" "0" "" "" "g.2948918C>T" "" "likely benign" "" "0000438210" "11" "95" "6" "2948930" "2948930" "subst" "0" "00000" "SERPINB6_000001" "g.2948930C>A" "" "{PMID:Sirmaci 2010:20451170}" "BslI" "" "homozygosity mapping; not in 600 control chromosomes; NMD of mRNA" "Unknown" "" "" "0" "" "" "g.2948696C>A" "" "pathogenic" "" "0000438211" "21" "95" "6" "2948930" "2948930" "subst" "0" "00000" "SERPINB6_000001" "g.2948930C>A" "" "{PMID:Sirmaci 2010:20451170}" "BslI" "" "homozygosity mapping; not in 600 control chromosomes; NMD of mRNA" "Unknown" "" "" "0" "" "" "g.2948696C>A" "" "pathogenic" "" "0000528158" "0" "50" "6" "2948717" "2948717" "subst" "8.5284E-5" "01943" "SERPINB6_000018" "g.2948717C>T" "" "" "" "SERPINB6(NM_001297699.1):c.946G>A (p.V316M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.2948483C>T" "" "VUS" "" "0000640292" "1" "33" "6" "2948535" "2948535" "subst" "2.03164E-5" "00004" "SERPINB6_000019" "g.2948535C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2948301C>T" "" "likely benign" "" "0000640293" "1" "33" "6" "2948568" "2948568" "subst" "0.00143397" "00004" "SERPINB6_000020" "g.2948568G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2948334G>A" "" "likely benign" "" "0000640294" "1" "33" "6" "2953391" "2953391" "subst" "1.21824E-5" "00004" "SERPINB6_000021" "g.2953391A>C" "" "{DB:DVD}, {PMID:Sirmaci 2010:20451170}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2953157A>C" "" "likely benign" "" "0000640295" "1" "55" "6" "2953432" "2953432" "subst" "3.65536E-5" "00004" "SERPINB6_000022" "g.2953432A>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2953198A>C" "" "VUS" "" "0000640296" "1" "33" "6" "2954823" "2954823" "subst" "0.000467221" "00004" "SERPINB6_000023" "g.2954823C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2954589C>T" "" "likely benign" "" "0000640297" "1" "33" "6" "2954877" "2954877" "subst" "0.000186816" "00004" "SERPINB6_000024" "g.2954877C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2954643C>T" "" "likely benign" "" "0000640298" "1" "33" "6" "2954913" "2954913" "subst" "0" "00004" "SERPINB6_000025" "g.2954913G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2954679G>C" "" "likely benign" "" "0000640299" "1" "33" "6" "2955883" "2955883" "subst" "4.46835E-5" "00004" "SERPINB6_000015" "g.2955883C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2955649C>T" "" "likely benign" "" "0000640300" "1" "33" "6" "2959442" "2959442" "subst" "6.09088E-5" "00004" "SERPINB6_000026" "g.2959442T>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2959208T>G" "" "likely benign" "" "0000640301" "1" "55" "6" "2959446" "2959446" "subst" "0.000475084" "00004" "SERPINB6_000003" "g.2959446C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2959212C>T" "" "VUS" "" "0000640302" "1" "33" "6" "2959549" "2959549" "subst" "3.24889E-5" "00004" "SERPINB6_000027" "g.2959549T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.2959315T>C" "" "likely benign" "" "0000689692" "0" "50" "6" "2949209" "2949209" "subst" "0" "01943" "SERPINB6_000028" "g.2949209T>G" "" "" "" "SERPINB6(NM_001297699.1):c.668A>C (p.Y223S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802464" "0" "30" "6" "2948568" "2948568" "subst" "0.00143397" "01943" "SERPINB6_000020" "g.2948568G>A" "" "" "" "SERPINB6(NM_001297699.1):c.1095C>T (p.N365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802465" "0" "50" "6" "2959446" "2959446" "subst" "0.000475084" "01943" "SERPINB6_000003" "g.2959446C>T" "" "" "" "SERPINB6(NM_001297699.1):c.121G>A (p.V41I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860265" "0" "50" "6" "2949149" "2949149" "subst" "3.65461E-5" "01943" "SERPINB6_000029" "g.2949149G>A" "" "" "" "SERPINB6(NM_001297699.1):c.728C>T (p.T243M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887137" "0" "10" "6" "2969045" "2969045" "subst" "0" "02327" "SERPINB6_000030" "g.2969045T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000944307" "3" "90" "6" "2948641" "2948641" "subst" "2.84329E-5" "00006" "SERPINB6_000031" "g.2948641C>T" "" "{PMID:Mahmood 2021:33997018}" "" "1079G>A (Arg360Gln)" "" "Germline" "" "" "0" "" "" "g.2948407C>T" "" "pathogenic (recessive)" "" "0001035653" "0" "50" "6" "2954904" "2954904" "subst" "1.21834E-5" "01804" "SERPINB6_000032" "g.2954904T>C" "" "" "" "SERPINB6(NM_004568.6):c.352A>G (p.(Met118Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SERPINB6 ## Count = 50 "{{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}}" "0000298118" "00018715" "10" "54" "0" "54" "0" "c.54G>A" "r.(?)" "p.(Thr18=)" "" "0000298118" "00025342" "10" "54" "0" "54" "0" "c.54G>A" "r.(?)" "p.(Thr18=)" "" "0000307910" "00018715" "30" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Val346Ile)" "" "0000307910" "00025342" "30" "1036" "0" "1036" "0" "c.1036G>A" "r.(?)" "p.(Val346Ile)" "" "0000307911" "00018715" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Cys370=)" "" "0000307911" "00025342" "30" "1110" "0" "1110" "0" "c.1110C>T" "r.(?)" "p.(Cys370=)" "" "0000307912" "00018715" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Ser)" "" "0000307912" "00025342" "50" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Ser)" "" "0000307913" "00018715" "50" "314" "0" "314" "0" "c.314C>A" "r.(?)" "p.(Ser105Tyr)" "" "0000307913" "00025342" "50" "314" "0" "314" "0" "c.314C>A" "r.(?)" "p.(Ser105Tyr)" "" "0000307914" "00018715" "30" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Ala147=)" "" "0000307914" "00025342" "30" "441" "0" "441" "0" "c.441G>A" "r.(?)" "p.(Ala147=)" "" "0000344952" "00018715" "50" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Gln73Ter)" "" "0000344952" "00025342" "50" "217" "0" "217" "0" "c.217C>T" "r.(?)" "p.(Gln73Ter)" "" "0000438202" "00025342" "35" "0" "0" "0" "0" "c.?" "r.(?)" "p.?" "1" "0000438203" "00025342" "35" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Cys23Tyr)" "1" "0000438204" "00025342" "35" "-11" "6" "-11" "6" "c.-11+6T>A" "r.(=)" "p.(=)" "1i" "0000438205" "00025342" "35" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Val41Ile)" "2" "0000438206" "00025342" "35" "313" "-5" "313" "-5" "c.313-5C" "r.(=)" "p.(=)" "3i" "0000438207" "00025342" "35" "460" "0" "460" "0" "c.460T>C" "r.(?)" "p.(Ser154Pro)" "5" "0000438208" "00025342" "35" "713" "0" "713" "0" "c.713C>A" "r.(?)" "p.(Thr238Asn)" "6" "0000438209" "00025342" "35" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242Lys)" "6" "0000438210" "00025342" "95" "733" "0" "733" "0" "c.733G>T" "r.733g>u" "p.Glu245*" "7" "0000438211" "00025342" "95" "733" "0" "733" "0" "c.733G>T" "r.733g>u" "p.Glu245*" "7" "0000528158" "00018715" "50" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Met)" "" "0000528158" "00025342" "50" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Val316Met)" "" "0000640292" "00018715" "33" "1128" "0" "1128" "0" "c.1128G>A" "r.(?)" "p.(=)" "8" "0000640293" "00018715" "33" "1095" "0" "1095" "0" "c.1095C>T" "r.(=)" "p.(=)" "8" "0000640294" "00018715" "33" "460" "0" "460" "0" "c.460T>G" "r.(?)" "p.(Ser154Ala)" "6" "0000640295" "00018715" "55" "431" "-12" "431" "-12" "c.431-12T>G" "r.spl?" "p.(=)" "4i" "0000640296" "00018715" "33" "430" "3" "430" "3" "c.430+3G>A" "r.spl?" "p.?" "5i" "0000640297" "00018715" "33" "379" "0" "379" "0" "c.379G>A" "r.(?)" "p.(Val127Ile)" "5" "0000640298" "00018715" "33" "343" "0" "343" "0" "c.343C>G" "r.(?)" "p.(Gln115Glu)" "5" "0000640299" "00018715" "33" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Gly63Ser)" "4" "0000640300" "00018715" "33" "125" "0" "125" "0" "c.125A>C" "r.(?)" "p.(Tyr42Ser)" "3" "0000640301" "00018715" "55" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Ala41Thr)" "3" "0000640302" "00018715" "33" "18" "0" "18" "0" "c.18A>G" "r.(?)" "p.(=)" "3" "0000689692" "00018715" "50" "668" "0" "668" "0" "c.668A>C" "r.(?)" "p.(Tyr223Ser)" "" "0000689692" "00025342" "50" "668" "0" "668" "0" "c.668A>C" "r.(?)" "p.(Tyr223Ser)" "" "0000802464" "00018715" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(Asn365=)" "" "0000802464" "00025342" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(Asn365=)" "" "0000802465" "00018715" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Val41Ile)" "" "0000802465" "00025342" "50" "121" "0" "121" "0" "c.121G>A" "r.(?)" "p.(Val41Ile)" "" "0000860265" "00018715" "50" "728" "0" "728" "0" "c.728C>T" "r.(?)" "p.(Thr243Met)" "" "0000860265" "00025342" "50" "728" "0" "728" "0" "c.728C>T" "r.(?)" "p.(Thr243Met)" "" "0000887137" "00018715" "10" "-43" "0" "-43" "0" "c.-43A>G" "r.(?)" "p.(=)" "" "0000887137" "00025342" "10" "-11" "2722" "-11" "2722" "c.-11+2722A>G" "r.(=)" "p.(=)" "" "0000944307" "00018715" "90" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341Gln)" "" "0000944307" "00025342" "90" "1022" "0" "1022" "0" "c.1022G>A" "r.(?)" "p.(Arg341Gln)" "" "0001035653" "00025342" "50" "352" "0" "352" "0" "c.352A>G" "r.(?)" "p.(Met118Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000208368" "0000438205" "0000208369" "0000438207" "0000208370" "0000438208" "0000208371" "0000438209" "0000208372" "0000438206" "0000208373" "0000438204" "0000208374" "0000438202" "0000208374" "0000438203" "0000208375" "0000438210" "0000208375" "0000438211" "0000284550" "0000640292" "0000284551" "0000640293" "0000284552" "0000640294" "0000284553" "0000640295" "0000284554" "0000640296" "0000284555" "0000640297" "0000284556" "0000640298" "0000284557" "0000640299" "0000284558" "0000640300" "0000284559" "0000640301" "0000284560" "0000640302" "0000442954" "0000944307"