### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AGA) # 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}}" "AGA" "aspartylglucosaminidase" "4" "q34.3" "unknown" "NG_011845.2" "UD_132118886327" "{PMID: Ikonen et al. 1991:1703489}" "" "Finnish Disease Database (FinDis) \r\nOMIM#208400 Aspartylglucosaminuria " "1" "318" "175" "613228" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of Juha Muilu acting as curator until 2015." "" "g" "http://databases.lovd.nl/shared/refseq/AGA_codingDNA.html" "1" "" "
" "-1" "" "0" "00002" "2011-04-05 00:00:00" "00006" "2019-07-21 20:17:03" "00000" "2025-11-01 13:22:20" ## 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}}" "00000003" "AGA" "aspartylglucosaminidase, transcript variant 1" "003" "NM_000027.3" "" "NP_000018.2" "" "" "" "-128" "1975" "1041" "178363657" "178351928" "00002" "2012-05-11 13:11:48" "" "" ## 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}}" "00055" "AGU" "aspartylglucosaminuria (AGU)" "AR" "208400" "" "" "" "00001" "2012-08-31 14:22:30" "00006" "2021-12-10 21:51:32" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AGA" "00055" "AGA" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00000024" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00293583" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293584" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293585" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293586" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307713" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411606" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00000024" "05378" "00293583" "00198" "00293584" "00198" "00293585" "00198" "00293586" "00198" "00307713" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00055, 00139, 00198, 05378 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000024" "00000024" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000294751" "00293583" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294752" "00293584" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294753" "00293585" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294754" "00293586" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308853" "00307713" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000000024" "AGA" "0000000024" "AMPD1" "0000000024" "ATP7B" "0000000024" "CBS" "0000000024" "CPT1A" "0000000024" "CYP21A2" "0000000024" "DPYD" "0000000024" "ETFB" "0000000024" "MEFV" "0000000024" "NPHP4" "0000000024" "NPHS1" "0000000024" "SERPINA1" "0000308853" "AGA" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 89 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000001002" "3" "50" "4" "178359924" "178359924" "subst" "0.000865755" "00002" "AGA_000001" "g.178359924C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177438770C>T" "" "VUS" "" "0000001003" "3" "50" "4" "178359918" "178359918" "subst" "0.000837521" "00002" "AGA_000002" "g.178359918C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.177438764C>G" "" "VUS" "" "0000001496" "0" "77" "4" "178363422" "178363428" "del" "0" "00015" "AGA_000003" "g.178363422_178363428del" "" "{PMID:Ikonen et al. 1991:1722323}, {PMID:Park et al. 1993:8457202}" "" "7-bp deletion (nt 102-108)" "1 English AGU patient (het) + 2 English sibs (het) with AGU" "SUMMARY record" "yes" "" "" "" "" "g.177442268_177442274del" "" "likely pathogenic" "" "0000001522" "0" "99" "4" "178363402" "178363403" "ins" "0" "00015" "AGA_000004" "g.178363402_178363403insCCGCAT" "" "{PMID:Ikonen et al. 1991:1722323}" "" "ins 6 bp after G127" "1 Tunisian AGU patient; Inserted ATGCGG sequence is not found in normal intron 01, changes in intron 01 leading to this insertion are unknown" "SUMMARY record" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000001523" "0" "99" "4" "178361529" "178361529" "subst" "0" "00015" "AGA_000005" "g.178361529C>T" "" "{PMID:Ikonen et al. 1991:1722323}" "" "" "1 German AGU patient" "SUMMARY record" "yes" "rs121964907" "" "" "" "g.177440375C>T" "" "pathogenic" "" "0000001524" "3" "99" "4" "178361516" "178361516" "subst" "0" "00015" "AGA_000006" "g.178361516A>T" "" "{PMID:Peltola et al. 1994:7881426}" "" "" "1 Puerto Rican AGU family" "SUMMARY record" "yes" "" "" "" "" "g.177440362A>T" "" "pathogenic" "" "0000001525" "3" "99" "4" "178361514" "178361515" "del" "0" "00015" "AGA_000007" "g.178361514_178361515del" "" "{PMID:Isoniemi et al. 1995:7627186}" "" "c.199_200delGA" "7 Finnish AGU families" "SUMMARY record" "yes" "" "" "" "" "g.177440360_177440361del" "" "pathogenic" "" "0000001526" "3" "99" "4" "178361494" "178361494" "subst" "0" "00015" "AGA_000008" "g.178361494A>G" "" "{PMID:Peltola et al. 1996:8776587}" "" "" "4 Arab AGU families" "SUMMARY record" "yes" "rs121964909" "" "" "" "g.177440340A>G" "" "pathogenic" "" "0000001527" "1" "99" "4" "178360825" "178360825" "subst" "4.0625E-6" "00015" "AGA_000009" "g.178360825C>T" "" "{PMID: Laitinen et al. 1997:9137882}" "" "" "2 Canadian sibs" "SUMMARY record" "yes" "" "" "" "" "g.177439671C>T" "" "pathogenic" "" "0000001528" "0" "99" "4" "178360822" "178360822" "subst" "4.06233E-6" "00015" "AGA_000010" "g.178360822G>A" "" "{PMID:Ikonen et al. 1991:1722323}, {PMID:Park et al. 1993:8457202}" "" "" "1 Italian (hom) and 1 English (com-het) AGU patient" "SUMMARY record" "yes" "rs121964908" "" "" "" "g.177439668G>A" "" "pathogenic" "" "0000001529" "3" "99" "4" "178360789" "178360789" "del" "0" "00015" "AGA_000011" "g.178360789del" "" "{PMID:Ikonen et al. 1991:1722323}" "" "" "1 Dutch AGU patient" "SUMMARY record" "yes" "" "" "" "" "g.177439635del" "" "pathogenic" "" "0000001530" "0" "99" "4" "178363496" "178363496" "subst" "0.0143353" "00015" "AGA_000012" "g.178363496C>A" "" "{PMID:Saarela et al. 2001:11309371}" "" "c.34G>T" "1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear" "SUMMARY record" "yes" "rs74626221" "" "" "" "g.177442342C>A" "" "pathogenic" "" "0000001531" "0" "99" "4" "178360751" "178360755" "del" "0" "00015" "AGA_000013" "g.178360751_178360755del" "" "{PMID:Park et al. 1993:8457202}, {PMID:Saarela et al. 2001:11309371}" "" "5 bp deletion (ACACA) nt 367-371, 367_371del: T123fsX142" "1 American AGU patient" "SUMMARY record" "yes" "" "" "" "" "g.177439597_177439601del" "" "pathogenic" "" "0000001532" "3" "99" "4" "178360754" "178360757" "del" "0" "00015" "AGA_000014" "g.178360754_178360757del" "" "{PMID:Saarela et al. 2001:11309371}" "" "372_375del" "1 Pakistani AGU patient" "SUMMARY record" "yes" "" "" "" "" "g.177439600_177439603del" "" "pathogenic" "" "0000001533" "0" "99" "4" "178360002" "178360002" "subst" "0" "00015" "AGA_000015" "g.178360002A>G" "" "{PMID: Laitinen et al. 1997:9137882}" "" "" "2 Canadian sibs (com-het) with AGU" "SUMMARY record" "yes" "" "" "" "" "g.177438848A>G" "" "pathogenic" "" "0000001534" "11" "99" "4" "178363486" "178363486" "subst" "0" "00015" "AGA_000016" "g.178363486A>C" "" "{PMID:Saarela et al. 2004:15365992}" "" "" "1 Finnish AGU patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.177442332A>C" "" "pathogenic" "" "0000001535" "3" "99" "4" "178359918" "178359918" "subst" "0.000837521" "00015" "AGA_000002" "g.178359918C>G" "" "{PMID: Ikonen et al. 1991:1703489}, {PMID: Syvänen et al. 1992:1559710}, {PMID:Saarela et al. 2001:11309371}" "" "AGU FIN" "Finnish Major AGU mutation, in 98% of Finnish AGU patients; Finnish Major AGU mutation. On the same haplotype with c.482G>A (p.Arg161Gln)" "SUMMARY record" "yes" "rs121964904" "" "" "" "g.177438764C>G" "" "pathogenic" "" "0000001536" "0" "99" "4" "178359903" "178359903" "subst" "1.62808E-5" "00015" "AGA_000018" "g.178359903C>T" "" "{PMID:Saarela et al. 2001:11309371}" "" "" "1 British AGU patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.177438749C>T" "" "pathogenic" "" "0000001537" "3" "99" "4" "178357451" "178357451" "subst" "8.12684E-6" "00015" "AGA_000019" "g.178357451C>T" "" "{PMID:Coulter-Mackie et al. 1999:10399108}" "" "G677→A and exon 6 skipping" "2 Canadian AGU patients (hom)" "SUMMARY record" "yes" "" "0" "" "" "g.177436297C>T" "" "pathogenic" "" "0000001538" "3" "99" "4" "178355588" "178355588" "subst" "0" "00015" "AGA_000020" "g.178355588C>G" "" "{PMID:Saarela et al. 2001:11309371}" "" "" "1 Italian AGU patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.177434434C>G" "" "pathogenic" "" "0000001539" "0" "99" "4" "178355587" "178355587" "subst" "4.06085E-6" "00015" "AGA_000021" "g.178355587C>T" "" "{PMID:Saarela et al. 2001:11309371}" "" "" "1 Finnish AGU patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.177434433C>T" "" "pathogenic" "" "0000001540" "0" "99" "4" "178355572" "178355572" "subst" "8.1215E-6" "00015" "AGA_000022" "g.178355572G>A" "" "{PMID:Saarela et al. 2001:11309371}" "" "" "1 Finnish AGU patient (com-het)" "SUMMARY record" "yes" "" "" "" "" "g.177434418G>A" "" "pathogenic" "" "0000001541" "3" "99" "4" "178355555" "178355555" "del" "0" "00015" "AGA_000023" "g.178355555del" "" "{PMID:Park et al. 1996:8830180}" "" "delta T788" "1 Mauritanian AGU patient (hom)" "SUMMARY record" "yes" "" "" "" "" "g.177434401del" "" "pathogenic" "" "0000001542" "3" "99" "4" "178355542" "178355542" "dup" "0" "00015" "AGA_000024" "g.178355542dup" "" "{PMID:Ikonen et al. 1991:1722323}" "" "ins T after T800" "1 Spanish-American AGU patient" "SUMMARY record" "yes" "" "" "" "" "g.177434388dup" "" "pathogenic" "" "0000001543" "3" "99" "4" "178354404" "178354404" "subst" "0" "00015" "AGA_000025" "g.178354404C>T" "" "{PMID:Ikonen et al. 1991:1722323}" "" "" "1 Turkish AGU patient (hom)" "SUMMARY record" "yes" "rs121964905" "" "" "" "g.177433250C>T" "" "pathogenic" "" "0000001544" "3" "99" "4" "178354392" "178354392" "subst" "4.06164E-6" "00015" "AGA_000026" "g.178354392A>G" "" "{PMID:Ikonen et al. 1991:1722323}" "" "" "1 American AGU patient (hom)" "SUMMARY record" "yes" "rs121964906" "" "" "" "g.177433238A>G" "" "pathogenic" "" "0000001545" "3" "99" "4" "178354367" "178354367" "subst" "8.12466E-6" "00015" "AGA_000027" "g.178354367C>A" "" "{PMID:Fisher et al. 1991:8830180}" "" "GT-to-TT transversion at the splice donor site of intron 8" "1 African-American AGU patient (hom); Mutation almost completely eliminate splicing at the exon 8/intron 8 border and causes exon 8 skipping." "SUMMARY record" "yes" "" "" "" "" "g.177433213C>A" "" "pathogenic" "" "0000001546" "0" "99" "4" "178350942" "178353110" "del" "0" "00015" "AGA_000028" "g.178350942_178353110del" "" "{PMID:Jalanko et al. 1995:7795599}" "" "" "1 North American AGU patient" "SUMMARY record" "yes" "" "" "" "" "g.177429788_177431956del" "" "pathogenic" "" "0000001547" "3" "99" "4" "178360019" "178360019" "subst" "8.15521E-6" "00015" "AGA_000029" "g.178360019T>C" "" "{PMID: Yoshida et al. 1991:1756604}, {PMID:Saarela et al. 2001:11309371}" "" "" "1 Japanese AGU patient" "SUMMARY record" "yes" "" "0" "" "" "g.177438865T>C" "" "pathogenic" "" "0000016582" "0" "55" "4" "178359924" "178359924" "subst" "0.000865755" "00015" "AGA_000001" "g.178359924C>T" "" "{PMID: Ikonen et al. 1991:1703489}, {PMID: Syvänen et al. 1992:1559710}, {PMID:Saarela et al. 2001:11309371}" "" "" "Finnish variant; On the same haplotype with Finnish Major mutation." "SUMMARY record" "yes" "rs192195150" "" "" "" "g.177438770C>T" "" "VUS" "" "0000016971" "3" "97" "4" "178359967" "178359967" "subst" "4.0623E-6" "00015" "AGA_000030" "g.178359967A>G" "" "{PMID:Opladen et al. 2014:23271757}" "" "" "2 Qatari siblings (hom) with AGU" "SUMMARY record" "yes" "" "0" "" "" "g.177438813A>G" "" "pathogenic" "" "0000016972" "0" "97" "4" "178360778" "178360778" "subst" "4.06154E-6" "00015" "AGA_000031" "g.178360778G>A" "" "{PMID:Opladen et al. 2014:23271757}" "" "" "3 Turkish siblings (hom) with AGU" "SUMMARY record" "yes" "" "0" "" "" "g.177439624G>A" "" "pathogenic" "" "0000017960" "0" "77" "4" "178352903" "178352903" "subst" "0" "00015" "AGA_000032" "g.178352903C>A" "" "{PMID:Saarela et al. 2001:11309371}" "" "" "1 Italian AGU patient (het); Double mutation c.34G>T + c.1000G>T in one allele, which one is causative is unclear" "SUMMARY record" "yes" "" "" "" "" "g.177431749C>A" "" "likely pathogenic" "" "0000040507" "11" "70" "4" "178360732" "178360732" "subst" "0" "00015" "AGA_000033" "g.178360732G>A" "" "{PMID:Liu et al. 2014:25190167}" "" "" "1 Chinese patient with AGU (het)" "SUMMARY record" "yes" "" "0" "" "" "g.177439578G>A" "" "likely pathogenic" "" "0000248013" "0" "10" "4" "178361414" "178361414" "subst" "0.193873" "02325" "AGA_000038" "g.178361414A>C" "" "" "" "AGA(NM_000027.3):c.281+13T>G, AGA(NM_000027.4):c.281+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177440260A>C" "" "benign" "" "0000248138" "0" "70" "4" "178360789" "178360789" "del" "0" "02325" "AGA_000011" "g.178360789del" "" "" "" "AGA(NM_000027.3):c.336delT (p.I112Mfs*16), AGA(NM_000027.4):c.336delT (p.I112Mfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177439635del" "" "likely pathogenic" "" "0000249532" "0" "30" "4" "178358546" "178358546" "subst" "0.00988054" "02325" "AGA_000036" "g.178358546A>G" "" "" "" "AGA(NM_000027.4):c.622+13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177437392A>G" "" "likely benign" "" "0000253274" "0" "10" "4" "178361414" "178361414" "subst" "0.193873" "01943" "AGA_000038" "g.178361414A>C" "" "" "" "AGA(NM_000027.3):c.281+13T>G, AGA(NM_000027.4):c.281+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177440260A>C" "" "benign" "" "0000255396" "0" "90" "4" "178360789" "178360789" "del" "0" "01943" "AGA_000011" "g.178360789del" "" "" "" "AGA(NM_000027.3):c.336delT (p.I112Mfs*16), AGA(NM_000027.4):c.336delT (p.I112Mfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177439635del" "" "pathogenic" "" "0000258986" "0" "10" "4" "178359960" "178359960" "subst" "0.982768" "02325" "AGA_000037" "g.178359960G>C" "" "" "" "AGA(NM_000027.3):c.446C>G (p.T149S), AGA(NM_000027.4):c.446C>G (p.T149S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177438806G>C" "" "benign" "" "0000259720" "0" "70" "4" "178361529" "178361529" "subst" "0" "02325" "AGA_000005" "g.178361529C>T" "" "" "" "AGA(NM_000027.4):c.179G>A (p.G60D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177440375C>T" "" "likely pathogenic" "" "0000259721" "0" "70" "4" "178360822" "178360822" "subst" "4.06233E-6" "02325" "AGA_000010" "g.178360822G>A" "" "" "" "AGA(NM_000027.4):c.302C>T (p.A101V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177439668G>A" "" "likely pathogenic" "" "0000259739" "0" "30" "4" "178359924" "178359924" "subst" "0.000865755" "02325" "AGA_000001" "g.178359924C>T" "" "" "" "AGA(NM_000027.4):c.482G>A (p.R161Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177438770C>T" "" "likely benign" "" "0000259740" "0" "90" "4" "178359918" "178359918" "subst" "0.000837521" "02325" "AGA_000002" "g.178359918C>G" "" "" "" "AGA(NM_000027.4):c.488G>C (p.C163S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177438764C>G" "" "pathogenic" "" "0000260662" "0" "30" "4" "178357483" "178357483" "subst" "3.25203E-5" "02326" "AGA_000035" "g.178357483T>C" "" "" "" "AGA(NM_000027.3):c.645A>G (p.T215=), AGA(NM_000027.4):c.645A>G (p.T215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177436329T>C" "" "likely benign" "" "0000262059" "0" "10" "4" "178363378" "178363378" "subst" "0.648956" "01943" "AGA_000039" "g.178363378G>A" "" "" "" "AGA(NM_000027.3):c.127+25C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177442224G>A" "" "benign" "" "0000262060" "0" "90" "4" "178361514" "178361515" "del" "0" "01943" "AGA_000007" "g.178361514_178361515del" "" "" "" "AGA(NM_000027.3):c.200_201delAG (p.E67Afs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177440360_177440361del" "" "pathogenic" "" "0000262061" "0" "10" "4" "178359960" "178359960" "subst" "0.982768" "01943" "AGA_000037" "g.178359960G>C" "" "" "" "AGA(NM_000027.3):c.446C>G (p.T149S), AGA(NM_000027.4):c.446C>G (p.T149S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177438806G>C" "" "benign" "" "0000262062" "0" "10" "4" "178355668" "178355668" "subst" "0.997474" "01943" "AGA_000034" "g.178355668C>G" "" "" "" "AGA(NM_000027.3):c.699-25G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177434514C>G" "" "benign" "" "0000330191" "0" "50" "4" "178363512" "178363512" "subst" "0" "01804" "AGA_000040" "g.178363512G>T" "" "" "" "AGA(NM_000027.3):c.18C>A (p.(Asn6Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.177442358G>T" "" "VUS" "" "0000522056" "0" "30" "4" "178352880" "178352880" "subst" "0.00959616" "01804" "AGA_000041" "g.178352880T>C" "" "" "" "AGA(NM_000027.3):c.1023A>G (p.(Glu341=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177431726T>C" "" "likely benign" "" "0000522057" "0" "50" "4" "178355548" "178355548" "subst" "0.000227398" "01943" "AGA_000042" "g.178355548C>T" "" "" "" "AGA(NM_000027.3):c.794G>A (p.R265H), AGA(NM_000027.4):c.794G>A (p.(Arg265His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177434394C>T" "" "VUS" "" "0000522058" "0" "30" "4" "178355580" "178355580" "subst" "0.000958376" "01943" "AGA_000043" "g.178355580G>A" "" "" "" "AGA(NM_000027.3):c.762C>T (p.A254=), AGA(NM_000027.4):c.762C>T (p.A254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177434426G>A" "" "likely benign" "" "0000522059" "0" "30" "4" "178355580" "178355580" "subst" "0.000958376" "02326" "AGA_000043" "g.178355580G>A" "" "" "" "AGA(NM_000027.3):c.762C>T (p.A254=), AGA(NM_000027.4):c.762C>T (p.A254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177434426G>A" "" "likely benign" "" "0000522060" "0" "30" "4" "178357512" "178357512" "subst" "0" "01943" "AGA_000044" "g.178357512G>A" "" "" "" "AGA(NM_000027.3):c.623-7C>T (p.(=)), AGA(NM_000027.4):c.623-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177436358G>A" "" "likely benign" "" "0000522061" "0" "30" "4" "178357512" "178357512" "subst" "0" "01804" "AGA_000044" "g.178357512G>A" "" "" "" "AGA(NM_000027.3):c.623-7C>T (p.(=)), AGA(NM_000027.4):c.623-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177436358G>A" "" "likely benign" "" "0000522062" "0" "30" "4" "178360748" "178360748" "subst" "0.000353377" "01804" "AGA_000045" "g.178360748G>C" "" "" "" "AGA(NM_000027.3):c.376C>G (p.L126V, p.(Leu126Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177439594G>C" "" "likely benign" "" "0000522063" "0" "30" "4" "178360821" "178360821" "subst" "0.000345251" "01943" "AGA_000046" "g.178360821T>A" "" "" "" "AGA(NM_000027.3):c.303A>T (p.A101=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177439667T>A" "" "likely benign" "" "0000522064" "0" "30" "4" "178361511" "178361511" "subst" "4.06105E-6" "01804" "AGA_000047" "g.178361511C>G" "" "" "" "AGA(NM_000027.3):c.197G>C (p.(Arg66Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177440357C>G" "" "likely benign" "" "0000609120" "0" "30" "4" "178357483" "178357483" "subst" "3.25203E-5" "01943" "AGA_000035" "g.178357483T>C" "" "" "" "AGA(NM_000027.3):c.645A>G (p.T215=), AGA(NM_000027.4):c.645A>G (p.T215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177436329T>C" "" "likely benign" "" "0000609121" "0" "90" "4" "178360805" "178360805" "subst" "1.21846E-5" "02327" "AGA_000049" "g.178360805G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177439651G>A" "" "pathogenic" "" "0000609122" "0" "30" "4" "178360811" "178360811" "subst" "0.00985362" "01804" "AGA_000050" "g.178360811G>T" "" "" "" "AGA(NM_000027.3):c.313C>A (p.(Leu105Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.177439657G>T" "" "likely benign" "" "0000651440" "1" "50" "4" "178359970" "178359970" "subst" "0.000991145" "03575" "AGA_000051" "g.178359970A>C" "3/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs146381591}" "Germline" "" "rs146381591" "0" "" "" "g.177438816A>C" "" "VUS" "" "0000651441" "1" "10" "4" "178360811" "178360811" "subst" "0.00985362" "03575" "AGA_000050" "g.178360811G>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs76491548}" "Germline" "" "rs76491548" "0" "" "" "g.177439657G>T" "" "benign" "" "0000651442" "1" "70" "4" "178360822" "178360822" "subst" "4.06233E-6" "03575" "AGA_000010" "g.178360822G>A" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs121964908}" "Germline" "" "rs121964908" "0" "" "" "g.177439668G>A" "" "likely pathogenic" "" "0000651443" "1" "30" "4" "178363496" "178363496" "subst" "0.0143353" "03575" "AGA_000012" "g.178363496C>A" "11/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs74626221}" "Germline" "" "rs74626221" "0" "" "" "g.177442342C>A" "" "likely benign" "" "0000683287" "3" "70" "4" "178359903" "178359903" "subst" "1.62808E-5" "00006" "AGA_000018" "g.178359903C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.177438749C>T" "" "likely pathogenic (recessive)" "" "0000689261" "0" "30" "4" "178363506" "178363506" "subst" "4.06448E-5" "02326" "AGA_000053" "g.178363506A>G" "" "" "" "AGA(NM_000027.4):c.24T>C (p.P8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719831" "0" "30" "4" "178352903" "178352903" "subst" "2.03259E-5" "01943" "AGA_000054" "g.178352903C>T" "" "" "" "AGA(NM_000027.3):c.1000G>A (p.E334K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719832" "0" "30" "4" "178359925" "178359925" "subst" "0.000109735" "02326" "AGA_000055" "g.178359925G>A" "" "" "" "AGA(NM_000027.3):c.481C>T (p.(Arg161Trp)), AGA(NM_000027.4):c.481C>T (p.R161W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719833" "0" "30" "4" "178359978" "178359978" "subst" "4.87448E-5" "01943" "AGA_000056" "g.178359978T>C" "" "" "" "AGA(NM_000027.3):c.428A>G (p.N143S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719834" "0" "50" "4" "178360748" "178360748" "subst" "0.000353377" "01943" "AGA_000045" "g.178360748G>C" "" "" "" "AGA(NM_000027.3):c.376C>G (p.L126V, p.(Leu126Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719835" "0" "30" "4" "178363520" "178363520" "subst" "0.000280497" "02326" "AGA_000057" "g.178363520T>G" "" "" "" "AGA(NM_000027.4):c.10A>C (p.K4Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000801582" "0" "50" "4" "178359970" "178359970" "subst" "0.000991145" "01943" "AGA_000051" "g.178359970A>C" "" "" "" "AGA(NM_000027.3):c.436T>G (p.L146V, p.(Leu146Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801583" "0" "50" "4" "178359970" "178359970" "subst" "0.000991145" "01804" "AGA_000051" "g.178359970A>C" "" "" "" "AGA(NM_000027.3):c.436T>G (p.L146V, p.(Leu146Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801584" "0" "50" "4" "178361432" "178361432" "subst" "0.0002396" "01943" "AGA_000058" "g.178361432C>T" "" "" "" "AGA(NM_000027.3):c.276G>A (p.M92I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859298" "0" "30" "4" "178363492" "178363492" "subst" "0" "01804" "AGA_000059" "g.178363492G>C" "" "" "" "AGA(NM_000027.3):c.38C>G (p.(Pro13Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886188" "0" "30" "4" "178354406" "178354406" "subst" "0.00103574" "02326" "AGA_000060" "g.178354406A>G" "" "" "" "AGA(NM_000027.4):c.902T>C (p.F301S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912083" "0" "30" "4" "178363475" "178363475" "subst" "0" "01804" "AGA_000061" "g.178363475C>A" "" "" "" "AGA(NM_000027.3):c.55G>T (p.(Ala19Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924085" "0" "30" "4" "178357526" "178357526" "dup" "0" "02326" "AGA_000062" "g.178357526dup" "" "" "" "AGA(NM_000027.4):c.623-10dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928885" "0" "30" "4" "178357512" "178357512" "subst" "0" "02326" "AGA_000044" "g.178357512G>A" "" "" "" "AGA(NM_000027.3):c.623-7C>T (p.(=)), AGA(NM_000027.4):c.623-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928886" "0" "30" "4" "178363470" "178363470" "subst" "0.00139425" "01804" "AGA_000063" "g.178363470T>C" "" "" "" "AGA(NM_000027.3):c.60A>G (p.(Leu20=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976219" "0" "50" "4" "178355549" "178355549" "subst" "0.000129944" "01804" "AGA_000064" "g.178355549G>A" "" "" "" "AGA(NM_000027.4):c.793C>T (p.(Arg265Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994197" "0" "30" "4" "178354385" "178354385" "subst" "0.000125912" "01804" "AGA_000065" "g.178354385T>C" "" "" "" "AGA(NM_000027.3):c.923A>G (p.(Asn308Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000994198" "0" "30" "4" "178359925" "178359925" "subst" "0.000109735" "01804" "AGA_000055" "g.178359925G>A" "" "" "" "AGA(NM_000027.3):c.481C>T (p.(Arg161Trp)), AGA(NM_000027.4):c.481C>T (p.R161W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034442" "0" "50" "4" "178355566" "178355566" "subst" "8.12143E-6" "01804" "AGA_000066" "g.178355566T>C" "" "" "" "AGA(NM_000027.4):c.776A>G (p.(Asn259Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045090" "0" "70" "4" "178355617" "178355617" "subst" "0" "03779" "AGA_000067" "g.178355617C>T" "" "" "" "" "" "Unknown" "" "rs1736737120" "0" "" "" "" "" "likely pathogenic" "" "0001045091" "0" "50" "4" "178358646" "178358646" "subst" "0" "03779" "AGA_000068" "g.178358646A>G" "" "" "" "" "" "Unknown" "" "rs1187962299" "0" "" "" "" "" "VUS" "" "0001051883" "0" "50" "4" "178355548" "178355548" "subst" "0.000227398" "01804" "AGA_000042" "g.178355548C>T" "" "" "" "AGA(NM_000027.3):c.794G>A (p.R265H), AGA(NM_000027.4):c.794G>A (p.(Arg265His))" "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 AGA ## Count = 89 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000001002" "00000003" "50" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161Gln)" "" "0000001003" "00000003" "50" "488" "0" "488" "0" "c.488G>C" "r.(?)" "p.(Cys163Ser)" "" "0000001496" "00000003" "99" "102" "0" "108" "0" "c.102_108del" "r.102_108delgcccuuu" "p.Trp34*" "1" "0000001522" "00000003" "99" "127" "0" "127" "1" "c.127_127+1insATGCGG" "r.spl" "p.?" "1i" "0000001523" "00000003" "99" "179" "0" "179" "0" "c.179G>A" "r.179g>a" "p.Gly60Asp" "2" "0000001524" "00000003" "99" "192" "0" "192" "0" "c.192T>A" "r.192u>a" "p.Cys64*" "2" "0000001525" "00000003" "99" "200" "0" "201" "0" "c.200_201del" "r.200_201delag" "p.Glu67Alafs*3" "2" "0000001526" "00000003" "99" "214" "0" "214" "0" "c.214T>C" "r.214u>c" "p.Ser72Pro" "2" "0000001527" "00000003" "99" "299" "0" "299" "0" "c.299G>A" "r.(299g>a)" "p.(Gly100Glu)" "3" "0000001528" "00000003" "99" "302" "0" "302" "0" "c.302C>T" "r.302c>u" "p.Ala101Val" "3" "0000001529" "00000003" "99" "336" "0" "336" "0" "c.336del" "r.336del" "p.Ile112Metfs*16" "3" "0000001530" "00000003" "99" "34" "0" "34" "0" "c.34G>T" "r.(34g>u)" "p.(Val12Leu)" "1" "0000001531" "00000003" "99" "369" "0" "373" "0" "c.369_373del" "r.369_373del" "p.His124Thrfs*19" "3" "0000001532" "00000003" "99" "373" "0" "376" "0" "c.373_376del" "r.(373_376del)" "p.(Thr125Phefs*2)" "3" "0000001533" "00000003" "99" "404" "0" "404" "0" "c.404T>C" "r.(404u>c)" "p.(Phe135Ser)" "4" "0000001534" "00000003" "99" "44" "0" "44" "0" "c.44T>G" "r.(44u>g)" "p.(Leu15Arg)" "1" "0000001535" "00000003" "99" "488" "0" "488" "0" "c.488G>C" "r.488g>c" "p.Cys163Ser" "4" "0000001536" "00000003" "99" "503" "0" "503" "0" "c.503G>A" "r.(503g>a)" "p.(Trp168*)" "4" "0000001537" "00000003" "99" "677" "0" "677" "0" "c.677G>A" "r.[677g>a,751_826del]" "p.[Gly226Asp,Ala251*]" "6" "0000001538" "00000003" "99" "754" "0" "754" "0" "c.754G>C" "r.(754g>c)" "p.(Gly252Arg)" "7" "0000001539" "00000003" "99" "755" "0" "755" "0" "c.755G>A" "r.(755g>a)" "p.(Gly252Glu)" "7" "0000001540" "00000003" "99" "770" "0" "770" "0" "c.770C>T" "r.(770c>u)" "p.(Thr257Ile)" "7" "0000001541" "00000003" "99" "788" "0" "788" "0" "c.788del" "r.788delu" "p.Leu263*" "7" "0000001542" "00000003" "99" "800" "0" "800" "0" "c.800dup" "r.800dupu" "p.Pro268Alafs*52" "7" "0000001543" "00000003" "99" "904" "0" "904" "0" "c.904G>A" "r.904g>a" "p.Gly302Arg" "8" "0000001544" "00000003" "99" "916" "0" "916" "0" "c.916T>C" "r.916u>c" "p.Cys306Arg" "8" "0000001545" "00000003" "99" "940" "1" "940" "1" "c.940+1G>T" "r.[=, 935_1068del]" "p.[=, 935_*27del]" "8i" "0000001546" "00000003" "99" "941" "-148" "2961" "0" "c.941-148_*1920del" "r.spl" "p.?" "8i" "0000001547" "00000003" "99" "395" "-8" "395" "-8" "c.395-8A>G" "r.394_395insucuccag" "p.(Ala132ValfsTer15)" "3i" "0000016582" "00000003" "55" "482" "0" "482" "0" "c.482G>A" "r.482g>a" "p.Arg161Gln" "4" "0000016971" "00000003" "97" "439" "0" "439" "0" "c.439T>C" "r.(439u>c)" "p.(Ser147Pro)" "4" "0000016972" "00000003" "97" "346" "0" "346" "0" "c.346C>T" "r.(346c>u)" "p.(Arg116Trp)" "3" "0000017960" "00000003" "77" "1000" "0" "1000" "0" "c.1000G>T" "r.(1000g>u)" "p.(Glu334*)" "9" "0000040507" "00000003" "70" "392" "0" "392" "0" "c.392C>T" "r.(?)" "p.(Ser131Leu)" "3" "0000248013" "00000003" "10" "281" "13" "281" "13" "c.281+13T>G" "r.(=)" "p.(=)" "" "0000248138" "00000003" "70" "336" "0" "336" "0" "c.336del" "r.(?)" "p.(Ile112MetfsTer16)" "" "0000249532" "00000003" "30" "622" "13" "622" "13" "c.622+13T>C" "r.(=)" "p.(=)" "" "0000253274" "00000003" "10" "281" "13" "281" "13" "c.281+13T>G" "r.(=)" "p.(=)" "" "0000255396" "00000003" "90" "336" "0" "336" "0" "c.336del" "r.(?)" "p.(Ile112MetfsTer16)" "" "0000258986" "00000003" "10" "446" "0" "446" "0" "c.446C>G" "r.(?)" "p.(Thr149Ser)" "" "0000259720" "00000003" "70" "179" "0" "179" "0" "c.179G>A" "r.(?)" "p.(Gly60Asp)" "" "0000259721" "00000003" "70" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Ala101Val)" "" "0000259739" "00000003" "30" "482" "0" "482" "0" "c.482G>A" "r.(?)" "p.(Arg161Gln)" "" "0000259740" "00000003" "90" "488" "0" "488" "0" "c.488G>C" "r.(?)" "p.(Cys163Ser)" "" "0000260662" "00000003" "30" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Thr215=)" "" "0000262059" "00000003" "10" "127" "25" "127" "25" "c.127+25C>T" "r.(=)" "p.(=)" "" "0000262060" "00000003" "90" "200" "0" "201" "0" "c.200_201del" "r.(?)" "p.(Glu67AlafsTer3)" "" "0000262061" "00000003" "10" "446" "0" "446" "0" "c.446C>G" "r.(?)" "p.(Thr149Ser)" "" "0000262062" "00000003" "10" "699" "-25" "699" "-25" "c.699-25G>C" "r.(=)" "p.(=)" "" "0000330191" "00000003" "50" "18" "0" "18" "0" "c.18C>A" "r.(?)" "p.(Asn6Lys)" "" "0000522056" "00000003" "30" "1023" "0" "1023" "0" "c.1023A>G" "r.(?)" "p.(Glu341=)" "" "0000522057" "00000003" "50" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "" "0000522058" "00000003" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Ala254=)" "" "0000522059" "00000003" "30" "762" "0" "762" "0" "c.762C>T" "r.(?)" "p.(Ala254=)" "" "0000522060" "00000003" "30" "623" "-7" "623" "-7" "c.623-7C>T" "r.(=)" "p.(=)" "" "0000522061" "00000003" "30" "623" "-7" "623" "-7" "c.623-7C>T" "r.(=)" "p.(=)" "" "0000522062" "00000003" "30" "376" "0" "376" "0" "c.376C>G" "r.(?)" "p.(Leu126Val)" "" "0000522063" "00000003" "30" "303" "0" "303" "0" "c.303A>T" "r.(?)" "p.(Ala101=)" "" "0000522064" "00000003" "30" "197" "0" "197" "0" "c.197G>C" "r.(?)" "p.(Arg66Thr)" "" "0000609120" "00000003" "30" "645" "0" "645" "0" "c.645A>G" "r.(?)" "p.(Thr215=)" "" "0000609121" "00000003" "90" "319" "0" "319" "0" "c.319C>T" "r.(?)" "p.(Arg107Ter)" "" "0000609122" "00000003" "30" "313" "0" "313" "0" "c.313C>A" "r.(?)" "p.(Leu105Ile)" "" "0000651440" "00000003" "50" "436" "0" "436" "0" "c.436T>G" "r.(?)" "p.(Leu146Val)" "" "0000651441" "00000003" "10" "313" "0" "313" "0" "c.313C>A" "r.(?)" "p.(Leu105Ile)" "" "0000651442" "00000003" "70" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Ala101Val)" "" "0000651443" "00000003" "30" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Val12Leu)" "" "0000683287" "00000003" "70" "503" "0" "503" "0" "c.503G>A" "r.(?)" "p.(Trp168*)" "" "0000689261" "00000003" "30" "24" "0" "24" "0" "c.24T>C" "r.(?)" "p.(Pro8=)" "" "0000719831" "00000003" "30" "1000" "0" "1000" "0" "c.1000G>A" "r.(?)" "p.(Glu334Lys)" "" "0000719832" "00000003" "30" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161Trp)" "" "0000719833" "00000003" "30" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(Asn143Ser)" "" "0000719834" "00000003" "50" "376" "0" "376" "0" "c.376C>G" "r.(?)" "p.(Leu126Val)" "" "0000719835" "00000003" "30" "10" "0" "10" "0" "c.10A>C" "r.(?)" "p.(Lys4Gln)" "" "0000801582" "00000003" "50" "436" "0" "436" "0" "c.436T>G" "r.(?)" "p.(Leu146Val)" "" "0000801583" "00000003" "50" "436" "0" "436" "0" "c.436T>G" "r.(?)" "p.(Leu146Val)" "" "0000801584" "00000003" "50" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Met92Ile)" "" "0000859298" "00000003" "30" "38" "0" "38" "0" "c.38C>G" "r.(?)" "p.(Pro13Arg)" "" "0000886188" "00000003" "30" "902" "0" "902" "0" "c.902T>C" "r.(?)" "p.(Phe301Ser)" "" "0000912083" "00000003" "30" "55" "0" "55" "0" "c.55G>T" "r.(?)" "p.(Ala19Ser)" "" "0000924085" "00000003" "30" "623" "-10" "623" "-10" "c.623-10dup" "r.(=)" "p.(=)" "" "0000928885" "00000003" "30" "623" "-7" "623" "-7" "c.623-7C>T" "r.(=)" "p.(=)" "" "0000928886" "00000003" "30" "60" "0" "60" "0" "c.60A>G" "r.(?)" "p.(=)" "" "0000976219" "00000003" "50" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" "" "0000994197" "00000003" "30" "923" "0" "923" "0" "c.923A>G" "r.(?)" "p.(Asn308Ser)" "" "0000994198" "00000003" "30" "481" "0" "481" "0" "c.481C>T" "r.(?)" "p.(Arg161Trp)" "" "0001034442" "00000003" "50" "776" "0" "776" "0" "c.776A>G" "r.(?)" "p.(Asn259Ser)" "" "0001045090" "00000003" "70" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Gly242Glu)" "" "0001045091" "00000003" "50" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Cys179Arg)" "" "0001051883" "00000003" "50" "794" "0" "794" "0" "c.794G>A" "r.(?)" "p.(Arg265His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000000024" "0000001002" "0000000024" "0000001003" "0000294751" "0000651440" "0000294752" "0000651441" "0000294753" "0000651442" "0000294754" "0000651443" "0000308853" "0000683287"