### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SEC63) # 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}}" "SEC63" "SEC63 homolog (S. cerevisiae)" "6" "q21" "unknown" "NG_008270.1" "UD_132084408952" "" "https://www.LOVD.nl/SEC63" "" "1" "21082" "11231" "608648" "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/SEC63_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-04-07 09:52:06" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018621" "SEC63" "SEC63 homolog (S. cerevisiae)" "001" "NM_007214.4" "" "NP_009145.1" "" "" "" "-269" "6231" "2283" "108279482" "108188960" "" "0000-00-00 00:00:00" "" "" ## 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" "01512" "PCLD" "liver disease, polycystic (PCLD)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-11-15 21:40:51" "05343" "PCLD2" "liver disease, polycystic, type 2 (PCLD-2)" "" "617004" "" "" "autosomal dominant" "00006" "2017-11-15 21:39:11" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SEC63" "01512" "SEC63" "05343" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00293950" "" "" "" "9" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293951" "" "" "" "234" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00296389" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00305049" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00332981" "" "" "" "1" "" "01741" "" "" "" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00293950" "00198" "00293951" "00198" "00296389" "00198" "00305049" "00198" "00332981" "01512" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01512, 05343 ## Count = 1 "{{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}}" "0000223803" "00198" "00296389" "01164" "Unknown" "" "Renal cyst (HP:0000107); Abnormal renal morphology (HP:0012210); Abnormality of the liver (HP:0001392); Cystic liver disease (HP:0006706)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000295118" "00293950" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295119" "00293951" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297500" "00296389" "1" "01164" "01164" "2020-04-06 09:47:57" "" "" "SEQ-NG-S" "DNA" "" "" "0000306178" "00305049" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000334205" "00332981" "1" "01741" "01741" "2021-02-23 15:22:41" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000334205" "SEC63" ## 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 = 58 "{{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}}" "0000249077" "0" "10" "6" "108243120" "108243120" "subst" "0" "02325" "SEC63_000007" "g.108243120A>G" "" "" "" "SEC63(NM_007214.5):c.340-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107921916A>G" "" "benign" "" "0000298089" "0" "10" "6" "108243125" "108243126" "del" "0" "02325" "SEC63_000011" "g.108243125_108243126del" "" "" "" "SEC63(NM_007214.5):c.340-12_340-11delGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107921921_107921922del" "" "benign" "" "0000298090" "0" "10" "6" "108233929" "108233929" "subst" "0.858895" "02325" "SEC63_000006" "g.108233929G>A" "" "" "" "SEC63(NM_007214.4):c.564C>T (p.N188=), SEC63(NM_007214.5):c.564C>T (p.N188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107912725G>A" "" "benign" "" "0000302022" "0" "10" "6" "108279068" "108279068" "subst" "0.00500848" "02326" "SEC63_000012" "g.108279068G>A" "" "" "" "SEC63(NM_007214.5):c.124+22C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107957864G>A" "" "benign" "" "0000302023" "0" "10" "6" "108214694" "108214694" "subst" "0.0409727" "02326" "SEC63_000005" "g.108214694C>T" "" "" "" "SEC63(NM_007214.5):c.1666G>A (p.V556I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107893490C>T" "" "benign" "" "0000302024" "0" "30" "6" "108197874" "108197874" "subst" "0" "02326" "SEC63_000004" "g.108197874C>A" "" "" "" "SEC63(NM_007214.5):c.1936-10_1936-8delTTGinsTTT, SEC63(NM_007214.5):c.1936-8G>T, SEC63(NM_007214.5):c.1936-9_1936-8delTGinsTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107876670C>A" "" "likely benign" "" "0000302025" "0" "10" "6" "108197775" "108197775" "subst" "0.0174775" "02326" "SEC63_000001" "g.108197775G>A" "" "" "" "SEC63(NM_007214.5):c.2027C>T (p.T676I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107876571G>A" "" "benign" "" "0000302026" "0" "10" "6" "108243125" "108243129" "del" "0" "02326" "SEC63_000008" "g.108243125_108243129del" "" "" "" "SEC63(NM_007214.4):c.340-12_340-8delGTTTT, SEC63(NM_007214.5):c.340-12_340-8delGTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107921921_107921925del" "" "benign" "" "0000307869" "0" "10" "6" "108243125" "108243129" "del" "0" "01943" "SEC63_000008" "g.108243125_108243129del" "" "" "" "SEC63(NM_007214.4):c.340-12_340-8delGTTTT, SEC63(NM_007214.5):c.340-12_340-8delGTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107921921_107921925del" "" "benign" "" "0000347124" "0" "50" "6" "108224151" "108224151" "subst" "0" "02327" "SEC63_000016" "g.108224151A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107902947A>C" "" "VUS" "" "0000347271" "0" "90" "6" "108197814" "108197814" "subst" "0" "02327" "SEC63_000013" "g.108197814A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107876610A>C" "" "pathogenic" "" "0000348998" "0" "90" "6" "108222678" "108222678" "subst" "0" "02327" "SEC63_000015" "g.108222678G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.107901474G>C" "" "pathogenic" "" "0000526603" "0" "10" "6" "108197891" "108197893" "dup" "0" "02326" "SEC63_000020" "g.108197891_108197893dup" "" "" "" "SEC63(NM_007214.4):c.1936-11_1936-9dupTTT, SEC63(NM_007214.5):c.1936-12_1936-10dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107876687_107876689dup" "" "benign" "" "0000526604" "0" "10" "6" "108197891" "108197893" "dup" "0" "01943" "SEC63_000020" "g.108197891_108197893dup" "" "" "" "SEC63(NM_007214.4):c.1936-11_1936-9dupTTT, SEC63(NM_007214.5):c.1936-12_1936-10dupTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107876687_107876689dup" "" "benign" "" "0000526605" "0" "10" "6" "108197892" "108197893" "dup" "0" "01943" "SEC63_000021" "g.108197892_108197893dup" "" "" "" "SEC63(NM_007214.4):c.1936-10_1936-9dupTT, SEC63(NM_007214.5):c.1936-10_1936-9dupTT, SEC63(NM_007214.5):c.1936-11_1936-10dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107876688_107876689dup" "" "benign" "" "0000526607" "0" "30" "6" "108233922" "108233922" "subst" "1.63331E-5" "01943" "SEC63_000023" "g.108233922G>A" "" "" "" "SEC63(NM_007214.4):c.571C>T (p.L191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107912718G>A" "" "likely benign" "" "0000526608" "0" "10" "6" "108233929" "108233929" "subst" "0.858895" "02327" "SEC63_000006" "g.108233929G>A" "" "" "" "SEC63(NM_007214.4):c.564C>T (p.N188=), SEC63(NM_007214.5):c.564C>T (p.N188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107912725G>A" "" "benign" "" "0000526609" "0" "90" "6" "108243070" "108243070" "subst" "0" "02327" "SEC63_000024" "g.108243070G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921866G>C" "" "pathogenic" "" "0000526610" "0" "30" "6" "108243119" "108243120" "ins" "0" "02327" "SEC63_000025" "g.108243119_108243120insGGGAAAAAA" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921915_107921916insGGGAAAAAA" "" "likely benign" "" "0000526611" "0" "10" "6" "108243120" "108243120" "subst" "0" "02327" "SEC63_000007" "g.108243120A>G" "" "" "" "SEC63(NM_007214.5):c.340-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921916A>G" "" "benign" "" "0000526612" "0" "30" "6" "108243121" "108243121" "subst" "0" "02327" "SEC63_000026" "g.108243121A>G" "" "" "" "SEC63(NM_007214.5):c.340-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921917A>G" "" "likely benign" "" "0000526613" "0" "10" "6" "108243121" "108243121" "subst" "0" "02325" "SEC63_000026" "g.108243121A>G" "" "" "" "SEC63(NM_007214.5):c.340-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921917A>G" "" "benign" "" "0000526614" "0" "10" "6" "108243122" "108243122" "subst" "0" "02325" "SEC63_000027" "g.108243122A>G" "" "" "" "SEC63(NM_007214.5):c.340-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921918A>G" "" "benign" "" "0000526615" "0" "30" "6" "108243124" "108243124" "subst" "0" "02327" "SEC63_000028" "g.108243124A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921920A>G" "" "likely benign" "" "0000526616" "0" "10" "6" "108243125" "108243125" "subst" "0" "02327" "SEC63_000029" "g.108243125C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921921C>A" "" "benign" "" "0000526617" "0" "10" "6" "108243125" "108243126" "ins" "0" "02326" "SEC63_000030" "g.108243125_108243126insGGG" "" "" "" "SEC63(NM_007214.5):c.340-13_340-12insCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921921_107921922insGGG" "" "benign" "" "0000526618" "0" "10" "6" "108243125" "108243126" "ins" "0" "02326" "SEC63_000031" "g.108243125_108243126insGGGG" "" "" "" "SEC63(NM_007214.5):c.340-13_340-12insCCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921921_107921922insGGGG" "" "benign" "" "0000526620" "0" "30" "6" "108243126" "108243126" "subst" "0" "02327" "SEC63_000033" "g.108243126A>G" "" "" "" "SEC63(NM_007214.5):c.340-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107921922A>G" "" "likely benign" "" "0000526621" "0" "70" "6" "108279173" "108279173" "dup" "0" "02329" "SEC63_000034" "g.108279173dup" "" "" "" "SEC63(NM_007214.5):c.42dupC (p.F15Lfs*78)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107957969dup" "" "likely pathogenic" "" "0000526622" "0" "10" "6" "108279290" "108279290" "subst" "0" "02327" "SEC63_000035" "g.108279290G>A" "" "" "" "SEC63(NM_007214.4):c.-77C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107958086G>A" "" "benign" "" "0000609895" "0" "10" "6" "108197775" "108197775" "subst" "0.0174775" "02327" "SEC63_000001" "g.108197775G>A" "" "" "" "SEC63(NM_007214.5):c.2027C>T (p.T676I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107876571G>A" "" "benign" "" "0000609896" "0" "10" "6" "108233929" "108233929" "subst" "0.858895" "01943" "SEC63_000006" "g.108233929G>A" "" "" "" "SEC63(NM_007214.4):c.564C>T (p.N188=), SEC63(NM_007214.5):c.564C>T (p.N188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107912725G>A" "" "benign" "" "0000609897" "0" "10" "6" "108279290" "108279290" "subst" "0" "01943" "SEC63_000035" "g.108279290G>A" "" "" "" "SEC63(NM_007214.4):c.-77C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107958086G>A" "" "benign" "" "0000651807" "1" "30" "6" "108197775" "108197775" "subst" "0.0174775" "03575" "SEC63_000001" "g.108197775G>A" "9/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "9 heterozygous, no homozygous; {DB:CLININrs61733388}" "Germline" "" "rs61733388" "0" "" "" "g.107876571G>A" "" "likely benign" "" "0000651808" "1" "30" "6" "108214694" "108214694" "subst" "0.0409727" "03575" "SEC63_000005" "g.108214694C>T" "234/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "234 heterozygous; {DB:CLININrs17854547}" "Germline" "" "rs17854547" "0" "" "" "g.107893490C>T" "" "likely benign" "" "0000655445" "0" "30" "6" "108204327" "108204329" "del" "0" "02327" "SEC63_000036" "g.108204327_108204329del" "" "" "" "SEC63(NM_007214.5):c.1703_1705delAAG (p.E568del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107883123_107883125del" "" "likely benign" "" "0000655446" "0" "90" "6" "108222682" "108222682" "subst" "0" "02327" "SEC63_000037" "g.108222682C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.107901478C>A" "" "pathogenic" "" "0000660102" "0" "70" "6" "108214782" "108214782" "dup" "0" "01164" "SEC63_000038" "g.108214782dup" "" "" "" "" "" "Germline" "" "rs777766787" "0" "" "" "g.107893578dup" "" "likely pathogenic" "" "0000669866" "3" "30" "6" "108214694" "108214694" "subst" "0.0409727" "03575" "SEC63_000005" "g.108214694C>T" "7/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 homozygous; {DB:CLININrs17854547}" "Germline" "" "rs17854547" "0" "" "" "g.107893490C>T" "" "likely benign" "" "0000720617" "0" "30" "6" "108197892" "108197893" "dup" "0" "02326" "SEC63_000021" "g.108197892_108197893dup" "" "" "" "SEC63(NM_007214.4):c.1936-10_1936-9dupTT, SEC63(NM_007214.5):c.1936-10_1936-9dupTT, SEC63(NM_007214.5):c.1936-11_1936-10dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720618" "0" "30" "6" "108233996" "108233996" "subst" "0.000751087" "02326" "SEC63_000039" "g.108233996T>C" "" "" "" "SEC63(NM_007214.5):c.515-18A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000732023" "0" "90" "6" "108202424" "108202424" "subst" "0" "01741" "SEC63_000040" "g.108202424G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "pathogenic" "" "0000851027" "0" "30" "6" "108204327" "108204329" "del" "0" "02326" "SEC63_000036" "g.108204327_108204329del" "" "" "" "SEC63(NM_007214.5):c.1703_1705delAAG (p.E568del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851028" "0" "30" "6" "108204348" "108204348" "subst" "0" "01943" "SEC63_000042" "g.108204348T>C" "" "" "" "SEC63(NM_007214.4):c.1677A>G (p.E559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851029" "0" "10" "6" "108214686" "108214686" "subst" "0.000483933" "02326" "SEC63_000043" "g.108214686A>G" "" "" "" "SEC63(NM_007214.5):c.1674T>C (p.N558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000860061" "0" "30" "6" "108197786" "108197786" "subst" "0.000154573" "02326" "SEC63_000041" "g.108197786C>T" "" "" "" "SEC63(NM_007214.5):c.2016G>A (p.T672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000860062" "0" "10" "6" "108222653" "108222653" "subst" "0.00489423" "02326" "SEC63_000044" "g.108222653G>A" "" "" "" "SEC63(NM_007214.5):c.1278C>T (p.F426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000886977" "0" "30" "6" "108197893" "108197893" "dup" "0" "02326" "SEC63_000045" "g.108197893dup" "" "" "" "SEC63(NM_007214.5):c.1936-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886978" "0" "90" "6" "108230228" "108230228" "subst" "0" "02327" "SEC63_000046" "g.108230228C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912375" "0" "10" "6" "108243125" "108243130" "del" "0" "02326" "SEC63_000032" "g.108243125_108243130del" "" "" "" "SEC63(NM_007214.5):c.340-12_340-7delGTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912376" "0" "30" "6" "108243126" "108243126" "subst" "0" "02326" "SEC63_000033" "g.108243126A>G" "" "" "" "SEC63(NM_007214.5):c.340-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924402" "0" "10" "6" "108243125" "108243131" "del" "0" "02326" "SEC63_000047" "g.108243125_108243131del" "" "" "" "SEC63(NM_007214.5):c.340-13_340-7delTGTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929127" "0" "90" "6" "108243000" "108243000" "subst" "8.12526E-6" "02326" "SEC63_000018" "g.108243000C>T" "" "" "" "SEC63(NM_007214.5):c.452+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000948610" "0" "30" "6" "108232620" "108232620" "subst" "0.000217236" "02326" "SEC63_000048" "g.108232620G>C" "" "" "" "SEC63(NM_007214.5):c.574-20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963771" "0" "50" "6" "108214787" "108214787" "subst" "0" "02326" "SEC63_000049" "g.108214787T>G" "" "" "" "SEC63(NM_007214.5):c.1573A>C (p.K525Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000963773" "0" "50" "6" "108227936" "108227936" "subst" "1.21956E-5" "02325" "SEC63_000050" "g.108227936T>C" "" "" "" "SEC63(NM_007214.5):c.779A>G (p.Y260C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025149" "0" "30" "6" "108243119" "108243119" "subst" "0" "02325" "SEC63_000051" "g.108243119G>T" "" "" "" "SEC63(NM_007214.5):c.340-6C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035395" "0" "30" "6" "108243116" "108243119" "dup" "0" "02326" "SEC63_000052" "g.108243116_108243119dup" "" "" "" "SEC63(NM_007214.5):c.340-6_340-3dupCCCC" "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 SEC63 ## Count = 58 "{{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}}" "0000249077" "00018621" "10" "340" "-7" "340" "-7" "c.340-7T>C" "r.(=)" "p.(=)" "" "0000298089" "00018621" "10" "340" "-12" "340" "-11" "c.340-12_340-11del" "r.(=)" "p.(=)" "" "0000298090" "00018621" "10" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Asn188=)" "" "0000302022" "00018621" "10" "124" "22" "124" "22" "c.124+22C>T" "r.(=)" "p.(=)" "" "0000302023" "00018621" "10" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Val556Ile)" "" "0000302024" "00018621" "30" "1936" "-8" "1936" "-8" "c.1936-8G>T" "r.(=)" "p.(=)" "" "0000302025" "00018621" "10" "2027" "0" "2027" "0" "c.2027C>T" "r.(?)" "p.(Thr676Ile)" "" "0000302026" "00018621" "10" "340" "-12" "340" "-8" "c.340-12_340-8del" "r.(=)" "p.(=)" "" "0000307869" "00018621" "10" "340" "-12" "340" "-8" "c.340-12_340-8del" "r.(=)" "p.(=)" "" "0000347124" "00018621" "50" "1106" "0" "1106" "0" "c.1106T>G" "r.(?)" "p.(Leu369Arg)" "" "0000347271" "00018621" "90" "1988" "0" "1988" "0" "c.1988T>G" "r.(?)" "p.(Leu663Ter)" "" "0000348998" "00018621" "90" "1253" "0" "1253" "0" "c.1253C>G" "r.(?)" "p.(Ser418Ter)" "" "0000526603" "00018621" "10" "1936" "-11" "1936" "-9" "c.1936-11_1936-9dup" "r.(=)" "p.(=)" "" "0000526604" "00018621" "10" "1936" "-11" "1936" "-9" "c.1936-11_1936-9dup" "r.(=)" "p.(=)" "" "0000526605" "00018621" "10" "1936" "-10" "1936" "-9" "c.1936-10_1936-9dup" "r.(=)" "p.(=)" "" "0000526607" "00018621" "30" "571" "0" "571" "0" "c.571C>T" "r.(?)" "p.(Leu191=)" "" "0000526608" "00018621" "10" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Asn188=)" "" "0000526609" "00018621" "90" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Ser128Ter)" "" "0000526610" "00018621" "30" "340" "-7" "340" "-6" "c.340-7_340-6insTTTTTTCCC" "r.(=)" "p.(=)" "" "0000526611" "00018621" "10" "340" "-7" "340" "-7" "c.340-7T>C" "r.(=)" "p.(=)" "" "0000526612" "00018621" "30" "340" "-8" "340" "-8" "c.340-8T>C" "r.(=)" "p.(=)" "" "0000526613" "00018621" "10" "340" "-8" "340" "-8" "c.340-8T>C" "r.(=)" "p.(=)" "" "0000526614" "00018621" "10" "340" "-9" "340" "-9" "c.340-9T>C" "r.(=)" "p.(=)" "" "0000526615" "00018621" "30" "340" "-11" "340" "-11" "c.340-11T>C" "r.(=)" "p.(=)" "" "0000526616" "00018621" "10" "340" "-12" "340" "-12" "c.340-12G>T" "r.(=)" "p.(=)" "" "0000526617" "00018621" "10" "340" "-13" "340" "-12" "c.340-13_340-12insCCC" "r.(=)" "p.(=)" "" "0000526618" "00018621" "10" "340" "-13" "340" "-12" "c.340-13_340-12insCCCC" "r.(=)" "p.(=)" "" "0000526620" "00018621" "30" "340" "-13" "340" "-13" "c.340-13T>C" "r.(=)" "p.(=)" "" "0000526621" "00018621" "70" "42" "0" "42" "0" "c.42dup" "r.(?)" "p.(Phe15LeufsTer78)" "" "0000526622" "00018621" "10" "-77" "0" "-77" "0" "c.-77C>T" "r.(?)" "p.(=)" "" "0000609895" "00018621" "10" "2027" "0" "2027" "0" "c.2027C>T" "r.(?)" "p.(Thr676Ile)" "" "0000609896" "00018621" "10" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Asn188=)" "" "0000609897" "00018621" "10" "-77" "0" "-77" "0" "c.-77C>T" "r.(?)" "p.(=)" "" "0000651807" "00018621" "30" "2027" "0" "2027" "0" "c.2027C>T" "r.(?)" "p.(Thr676Ile)" "" "0000651808" "00018621" "30" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Val556Ile)" "" "0000655445" "00018621" "30" "1703" "0" "1705" "0" "c.1703_1705del" "r.(?)" "p.(Glu568del)" "" "0000655446" "00018621" "90" "1249" "0" "1249" "0" "c.1249G>T" "r.(?)" "p.(Glu417Ter)" "" "0000660102" "00018621" "70" "1586" "0" "1586" "0" "c.1586dup" "r.(?)" "p.(Lys530Glufs*30)" "" "0000669866" "00018621" "30" "1666" "0" "1666" "0" "c.1666G>A" "r.(?)" "p.(Val556Ile)" "" "0000720617" "00018621" "30" "1936" "-10" "1936" "-9" "c.1936-10_1936-9dup" "r.(=)" "p.(=)" "" "0000720618" "00018621" "30" "515" "-18" "515" "-18" "c.515-18A>G" "r.(=)" "p.(=)" "" "0000732023" "00018621" "90" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(Arg622*)" "" "0000851027" "00018621" "30" "1703" "0" "1705" "0" "c.1703_1705del" "r.(?)" "p.(Glu568del)" "" "0000851028" "00018621" "30" "1677" "0" "1677" "0" "c.1677A>G" "r.(?)" "p.(Glu559=)" "" "0000851029" "00018621" "10" "1674" "0" "1674" "0" "c.1674T>C" "r.(?)" "p.(Asn558=)" "" "0000860061" "00018621" "30" "2016" "0" "2016" "0" "c.2016G>A" "r.(?)" "p.(Thr672=)" "" "0000860062" "00018621" "10" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Phe426=)" "" "0000886977" "00018621" "30" "1936" "-9" "1936" "-9" "c.1936-9dup" "r.(=)" "p.(=)" "" "0000886978" "00018621" "90" "636" "0" "636" "0" "c.636G>A" "r.(?)" "p.(Trp212*)" "" "0000912375" "00018621" "10" "340" "-12" "340" "-7" "c.340-12_340-7del" "r.(=)" "p.(=)" "" "0000912376" "00018621" "30" "340" "-13" "340" "-13" "c.340-13T>C" "r.(=)" "p.(=)" "" "0000924402" "00018621" "10" "340" "-13" "340" "-7" "c.340-13_340-7del" "r.(=)" "p.(=)" "" "0000929127" "00018621" "90" "452" "1" "452" "1" "c.452+1G>A" "r.spl?" "p.?" "" "0000948610" "00018621" "30" "574" "-20" "574" "-20" "c.574-20C>G" "r.(=)" "p.(=)" "" "0000963771" "00018621" "50" "1573" "0" "1573" "0" "c.1573A>C" "r.(?)" "p.(Lys525Gln)" "" "0000963773" "00018621" "50" "779" "0" "779" "0" "c.779A>G" "r.(?)" "p.(Tyr260Cys)" "" "0001025149" "00018621" "30" "340" "-6" "340" "-6" "c.340-6C>A" "r.(=)" "p.(=)" "" "0001035395" "00018621" "30" "340" "-6" "340" "-3" "c.340-6_340-3dup" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{variantid}}" "0000295118" "0000651807" "0000295119" "0000651808" "0000297500" "0000660102" "0000306178" "0000669866" "0000334205" "0000732023"