### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GLB1) # 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}}" "GLB1" "galactosidase, beta 1" "3" "p22.3" "unknown" "NG_009005.1" "UD_132084495229" "" "https://www.LOVD.nl/GLB1" "" "1" "4298" "2720" "611458" "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." "" "g" "https://databases.lovd.nl/shared/refseq/GLB1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2018-01-26 17:15:14" "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}}" "00000171" "GLB1" "galactosidase, beta 1, transcript variant 1" "002" "NM_000404.2" "" "NP_000395.2" "" "" "" "-117" "2471" "2034" "33138694" "33038100" "00002" "2012-05-11 13:12:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00114" "GA1" "glutaricaciduria, type 1 (GA-1)" "AR" "231670" "" "autosomal recessive" "" "00008" "2013-03-06 12:48:45" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01617" "ABL" "abetalipoproteinaemia (ABL)" "AR" "200100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01802" "GM1G1" "gangliosidosis, GM1, type I" "AR" "230500" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-03-17 08:50:34" "01803" "GM1G2" "gangliosidosis, GM1, type II" "AR" "230600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-03-17 08:51:02" "01804" "GM1G3" "gangliosidosis, GM1 type III" "AR" "230650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-03-17 08:51:38" "01938" "MPS4B" "mucopolysaccharidosis, type IVB (MPS4B)" "AR" "253010" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-07-20 08:58:10" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05427" "ADPKD" "kidney, polycystic, disease, autosomal dominant (ADPKD)" "" "" "" "" "" "00006" "2018-05-08 22:37:08" "" "" "05580" "MPS" "mucopolysaccharidosis (MPS)" "" "" "" "" "" "00006" "2019-03-01 09:43:46" "" "" "05801" "GM1G" "gangliosidosis" "" "" "" "" "" "00006" "2020-07-30 12:18:49" "00006" "2022-03-17 08:51:54" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "GLB1" "01802" "GLB1" "01803" "GLB1" "01804" "GLB1" "01938" "GLB1" "05801" ## Individuals ## Do not remove or alter this header ## ## Count = 129 "{{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}}" "00000005" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000009" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000011" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "M" "" "" "" "0" "" "" "" "NA04364" "00000014" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000015" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000016" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000017" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000018" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000020" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000021" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000022" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000023" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000025" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000026" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000028" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000031" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000034" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000035" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000036" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000038" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000039" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000040" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000042" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000044" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00000046" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000048" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000049" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000050" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000051" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000053" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "JPT/HAN‐HapMap sample" "F" "" "" "" "0" "" "" "" "" "00000054" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000055" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000056" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000059" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000060" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000061" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000062" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000063" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000064" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000065" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000069" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000072" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000073" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000074" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000076" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000077" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000078" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000081" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000082" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000084" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000086" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000087" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000088" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000089" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000090" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000092" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000093" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000094" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00000095" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000096" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000097" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000098" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000101" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000107" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00146556" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" "" "00245719" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245720" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245721" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "" "" "00245722" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245723" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Russian" "" "00245724" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "British" "" "00245725" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Belgian" "" "00245726" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Estonian" "" "00245727" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245728" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "" "" "00245729" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245730" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245731" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "United Arab Emirates" "" "00245732" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Indian" "" "00245733" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Turkish" "" "00245734" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Turkish" "" "00245735" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Turkish" "" "00245736" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Turkish" "" "00245737" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "" "" "00245738" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245739" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Estonian" "" "00245740" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Belgian" "" "00245741" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245742" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245743" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00245744" "" "" "" "1" "" "00000" "{PMID:Higaki et al 2011:21520340}" "" "" "" "" "" "0" "" "" "Japanese" "" "00264105" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00293318" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293319" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293320" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293321" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293322" "" "" "" "17" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293323" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306727" "" "" "" "1" "" "03696" "" "" "F" "no" "" "" "0" "" "" "" "" "00306728" "" "" "" "1" "" "03696" "" "" "M" "no" "" "" "0" "" "" "" "" "00306729" "" "" "" "1" "" "03696" "" "" "F" "no" "" "" "0" "" "" "" "" "00306847" "" "" "" "1" "" "03696" "" "" "M" "yes" "" "" "" "" "" "" "" "00306913" "" "" "" "1" "" "03696" "" "" "F" "no" "" "" "" "" "" "" "" "00306914" "" "" "" "1" "" "03696" "" "" "F" "yes" "" "00y00m" "" "" "" "" "" "00306915" "" "" "" "1" "" "03696" "" "" "F" "yes" "" "" "" "" "" "" "" "00306916" "" "" "" "1" "" "03696" "" "" "F" "no" "" "" "" "" "" "" "" "00307037" "" "" "" "1" "" "03696" "" "" "M" "no" "" "" "" "" "" "" "" "00307107" "" "" "" "1" "" "03696" "" "" "F" "yes" "" "" "" "" "" "" "" "00307108" "" "" "" "1" "" "03696" "" "" "F" "no" "" "" "" "" "" "" "" "00307109" "" "" "" "1" "" "03696" "" "" "F" "no" "" "" "" "" "" "" "" "00307112" "" "" "" "1" "" "03696" "" "" "M" "yes" "" "" "" "" "" "" "" "00307573" "" "" "" "1" "" "03696" "" "" "M" "yes" "" "" "0" "" "" "" "" "00307574" "" "" "" "1" "" "03696" "" "" "F" "no" "" "" "" "" "" "" "" "00307575" "" "" "" "1" "" "03696" "" "" "M" "no" "" "" "" "" "" "" "" "00373717" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "" "" "" "" "Chinese" "iw104" "00374330" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4159" "00374745" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2660" "00405119" "" "" "" "1" "" "01164" "" "" "F" "no" "" "" "0" "" "" "" "188725" "00414704" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01210" "00414705" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01899" "00414706" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA03575" "00456229" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat7" "00456232" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat10" "00456237" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat15" "00456242" "" "" "" "1" "" "00006" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "M" "" "Spain" "" "0" "" "" "" "Pat20" "00456553" "" "" "" "1" "" "00006" "{PMID:Fang 2022:34813777}" "" "M" "" "China" "" "0" "" "" "" "Pat43" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 84 "{{individualid}}" "{{diseaseid}}" "00000011" "00198" "00000014" "00138" "00000014" "05378" "00000015" "00138" "00000015" "05378" "00000016" "00138" "00000016" "05378" "00000017" "00138" "00000017" "05378" "00000018" "00138" "00000018" "05378" "00000021" "05378" "00000022" "05378" "00000023" "05378" "00000025" "05378" "00000038" "04270" "00000039" "05427" "00000044" "00114" "00000054" "01617" "00000094" "00114" "00000101" "04214" "00000208" "01157" "00000209" "01157" "00146556" "00198" "00245719" "01802" "00245720" "01802" "00245721" "01802" "00245722" "01802" "00245723" "01802" "00245724" "01802" "00245725" "01802" "00245726" "01802" "00245727" "01804" "00245728" "01804" "00245729" "01802" "00245730" "01802" "00245731" "01802" "00245732" "01802" "00245733" "01802" "00245734" "01802" "00245735" "01802" "00245736" "01802" "00245737" "01804" "00245738" "01804" "00245739" "01802" "00245740" "01804" "00245741" "01802" "00245742" "01802" "00245743" "01802" "00245744" "01802" "00293318" "00198" "00293319" "00198" "00293320" "00198" "00293321" "00198" "00293322" "00198" "00293323" "00198" "00306727" "01802" "00306728" "01804" "00306729" "01938" "00306847" "01802" "00306913" "01802" "00306914" "01802" "00306915" "01802" "00306916" "01803" "00307037" "01803" "00307107" "01938" "00307108" "01938" "00307109" "01802" "00307112" "01802" "00307573" "01802" "00307574" "01802" "00307575" "01802" "00373717" "01803" "00374330" "00198" "00374745" "00198" "00405119" "01938" "00414704" "04214" "00414705" "04214" "00414706" "04214" "00456229" "00198" "00456232" "00198" "00456237" "00198" "00456242" "00198" "00456553" "05580" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00114, 00138, 00198, 01157, 01617, 01802, 01803, 01804, 01938, 04214, 04270, 05378, 05427, 05580, 05801 ## Count = 34 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{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}}" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000119297" "00198" "00146556" "01807" "Unknown" "" "HP:0001789 (Hydrops fetalis)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154673" "01617" "00000054" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000201948" "00198" "00264105" "01164" "Unknown" "" "Neurodegeneration (HP:0002180)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232561" "01802" "00306727" "03696" "Unknown" "" "HP:0010729 Cherry red spot of the macula\r\nHP:0001290 Generalized hypotonia\r\nHP:0001263\tGlobal developmental delay \r\nHP:0001789\tHydrops fetalis \r\nHP:0000817\tPoor eye contact \r\nHP:0000505\tVisual impairment" "" "" "00y04m" "01y" "" "" "" "" "" "" "" "" "" "0000232562" "01804" "00306728" "03696" "Familial, autosomal recessive" "" "HP:0007256 Abnormal pyramidal sign\r\nHP:0001290\tGeneralized hypotonia \r\nHP:0001263\tGlobal developmental delay \r\nHP:0001249\tIntellectual disability \r\nHP:0007153 Progressive extrapyramidal movement disorder" "" "" "05y" "06y" "" "" "" "" "" "" "" "" "" "0000232563" "01938" "00306729" "03696" "Familial, autosomal recessive" "" "HP:0003330 Abnormal bone structure \r\nHP:0001999 Abnormal facial shape\r\nHP:0000943 Dysostosis multiplex \r\nHP:000320 Skeletal muscle atrophy" "" "" "13y" "13y" "" "" "" "" "" "" "" "" "" "0000232677" "01802" "00306847" "03696" "Familial, autosomal recessive" "" "HP:0003330 Abnormal bone structure \r\nHP:0007256 Abnormal pyramidal sign\r\nHP:0002086 Abnormality of the respiratory system \r\nHP:0002015 Dysphagia \r\nHP:0001508 Failure to thrive \r\nHP:0001290 Generalized hypotonia \r\nHP:0001263 Global developmental delay \r\nHP:0002240 Hepatomegaly \r\nHP:0002509 Limb hypertonia\r\nHP:0000817 Poor eye contact \r\nHP:0007153 Progressive extrapyramidal movement disorder \r\nHP:0002344 Progressive neurologic deterioration\r\nHP:0001250 Seizures \r\nHP:0001744 Splenomegaly \r\nHP:0000505 Visual impairment" "" "" "00y04m" "00y07m" "" "" "" "" "" "" "" "" "" "0000232736" "01802" "00306913" "03696" "Familial, autosomal recessive" "" "HP:0007256 Abnormal pyramidal sign\r\nHP:0002086 Abnormality of the respiratory system \r\nHP:0002015 Dysphagia \r\nHP:0001508 Failure to thrive \r\nHP:0001290 Generalized hypotonia \r\nHP:0001263 Global developmental delay \r\nHP:0002509 Limb hypertonia\r\nHP:0000817 Poor eye contact \r\nHP:0007153 Progressive extrapyramidal movement disorder \r\nHP:0002344 Progressive neurologic deterioration\r\nHP:0001250 Seizures \r\nHP:000320 Skeletal muscle atrophy" "" "" "00y10m" "00y10m" "" "" "" "" "" "" "" "" "" "0000232737" "01802" "00306914" "03696" "Unknown" "" "HP:0001789 Hydrops fetalis" "" "" "00y00m" "00y00m" "HP:0001789" "" "" "" "" "" "" "" "" "0000232738" "01802" "00306915" "03696" "Familial, autosomal recessive" "" "HP:0001789 Hydrops fetalis" "" "" "00y00m" "00y00m" "HP:0001789" "" "" "" "" "" "" "" "" "0000232739" "01802" "00306916" "03696" "Familial, autosomal recessive" "" "HP:0001263 Global developmental delay \r\nHP:0002344 Progressive neurologic deterioration\r\nHP:0001249 Intellectual disability \r\nHP:0002808 Kyphosis \r\nHP:0002650 Scoliosis \r\nHP:0000505 Visual impairment" "" "" "01y06m" "01y06m" "" "" "" "" "" "" "" "" "" "0000232862" "01803" "00307037" "03696" "Familial, autosomal recessive" "" "HP:0000708 Behavioral abnormality \r\nHP:0001288 Gait disturbance \r\nHP:0001263 Global developmental delay \r\nHP:0001249 Intellectual disability \r\nHP:0002344 Progressive neurologic deterioration" "" "" "03y" "04y" "" "" "" "" "" "" "" "" "" "0000232913" "01804" "00307107" "03696" "Familial, autosomal recessive" "" "" "" "" "04y" "04y" "" "" "" "" "" "" "" "" "" "0000232914" "01938" "00307108" "03696" "Familial, autosomal recessive" "" "HP:0001999 Abnormal facial shape\r\nHP:0000943 Dysostosis multiplex" "" "" "07y" "07y" "" "" "" "" "" "" "" "" "" "0000232915" "01802" "00307109" "03696" "Familial, autosomal recessive" "" "HP:0007256 Abnormal pyramidal sign\r\nHP:0002086 Abnormality of the respiratory system \r\nHP:0002015 Dysphagia \r\nHP:0001508 Failure to thrive \r\nHP:0001290 Generalized hypotonia \r\nHP:0001263 Global developmental delay \r\nHP:0002808 Kyphosis \r\nHP:0002509 Limb hypertonia\r\nHP:0000639 Nystagmus \r\nHP:0007153 Progressive extrapyramidal movement disorder \r\nHP:0002344 Progressive neurologic deterioration\r\nHP:0002650 Scoliosis \r\nHP:0001250 Seizures" "" "" "00y05m" "00y09m" "" "" "" "" "" "" "" "" "" "0000232918" "01802" "00307112" "03696" "Familial, autosomal recessive" "" "HP:0010729 Cherry red spot of the macula \r\nHP:0002910 Elevated hepatic transaminase \r\nHP:0001508 Failure to thrive \r\nHP:0001290 Generalized hypotonia \r\nHP:0001263 Global developmental delay \r\nHP:0002240 Hepatomegaly \r\nHP:0001744 Splenomegaly" "" "" "02y" "02y" "" "" "" "" "" "" "" "" "" "0000233176" "01802" "00307573" "03696" "Familial, autosomal recessive" "" "HP:0001789 Hydrops fetalis" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000233177" "01802" "00307574" "03696" "Familial, autosomal recessive" "" "" "" "" "00y05m" "00y06m" "" "" "" "" "" "" "" "" "" "0000233178" "01802" "00307575" "03696" "Familial, autosomal recessive" "" "HP:0003330 Abnormal bone structure \r\nHP:0001999 Abnormal facial shape\r\nHP:0002086 Abnormality of the respiratory system \r\nHP:0010729 Cherry red spot of the macula \r\nHP:0002015 Dysphagia \r\nHP:0001290 Generalized hypotonia \r\nHP:0001263 Global developmental delay \r\nHP:0002240 Hepatomegaly \r\nHP:0002344 Progressive neurologic deterioration\r\nHP:000320\tSkeletal muscle atrophy \r\nHP:0000505 Visual impairment" "" "" "00y03m" "00y04m" "" "" "" "" "" "" "" "" "" "0000268942" "01803" "00373717" "01864" "Familial, autosomal recessive" "" "HP:0001249; HP:0012751; HP:0001263; HP:0000750; HP:0002194; HP:0010862" "" "" "" "" "" "" "" "" "" "" "GM1-gangliosidosis, type II (OMIM 230500)" "" "" "0000269540" "00198" "00374330" "00006" "Familial, autosomal recessive" "" "Dystonia and developmental delay" "" "" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000269955" "00198" "00374745" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000278359" "04214" "00000101" "00000" "Familial, autosomal dominant" "64y" "diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization" "" "" "55y" "" "" "" "" "" "" "" "" "Sorsby fundus dystrophy" "" "0000297668" "01938" "00405119" "01164" "Familial, autosomal recessive" "00y04m" "Motor delay, Elevated serum acid phosphatase, Elevated circulating alkaline phosphatase concentration, Ganglioside accumulation, Elevated alkaline phosphatase of bone origin, Beta-galactosidase deficiency" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000306499" "04214" "00414704" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "galactosemia" "" "" "0000306500" "04214" "00414705" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Lesch-Nyhan syndrome" "" "" "0000306501" "04214" "00414706" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Tay-Sachs disease" "" "" "0000344748" "00198" "00456229" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "" "" "1y" "" "" "" "" "" "" "" "GM1G" "lysosomal storage disorder" "" "0000344751" "00198" "00456232" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "" "" "3y" "" "" "" "" "" "" "" "GM1G" "lysosomal storage disorder" "" "0000344756" "00198" "00456237" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "" "" "0m" "" "" "" "" "" "" "" "GM1G" "lysosomal storage disorder" "" "0000344761" "00198" "00456242" "00006" "Familial, autosomal recessive" "" "see paper; ... (detailed)" "" "" "10m" "" "" "" "" "" "" "" "GM1G" "lysosomal storage disorder" "" "0000345061" "05580" "00456553" "00006" "Familial, X-linked recessive" "" "severe" "" "" "3y" "3y" "" "" "" "" "" "" "MPS4B" "mucopolysaccharidosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 129 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000005" "00000005" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000009" "00000009" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000011" "00000011" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2021-10-11 11:49:29" "SEQ-NG" "DNA" "" "" "0000000014" "00000014" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000015" "00000015" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000016" "00000016" "1" "00004" "" "2012-05-11 13:18:39" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000017" "00000017" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000018" "00000018" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000020" "00000020" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000021" "00000021" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000022" "00000022" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000023" "00000023" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000025" "00000025" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000026" "00000026" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000028" "00000028" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000031" "00000031" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000034" "00000034" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000035" "00000035" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000036" "00000036" "1" "00004" "" "2012-05-11 13:18:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000038" "00000038" "1" "00004" "" "2012-05-11 13:18:45" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000039" "00000039" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000040" "00000040" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000042" "00000042" "1" "00004" "" "2012-05-11 13:18:46" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000044" "00000044" "1" "00004" "" "2012-05-11 13:18:47" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000046" "00000046" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000048" "00000048" "1" "00004" "" "2012-05-11 13:18:48" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000049" "00000049" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000050" "00000050" "1" "00004" "" "2012-05-11 13:18:49" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000051" "00000051" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000053" "00000053" "1" "00004" "" "2012-05-11 13:18:50" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000054" "00000054" "1" "00004" "" "2012-05-11 13:18:51" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000055" "00000055" "1" "00004" "" "2012-05-11 13:18:51" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000056" "00000056" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000059" "00000059" "1" "00004" "" "2012-05-11 13:18:53" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000060" "00000060" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000061" "00000061" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000062" "00000062" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000063" "00000063" "1" "00004" "" "2012-05-11 13:18:54" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000064" "00000064" "1" "00004" "" "2012-05-11 13:18:55" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000065" "00000065" "1" "00004" "" "2012-05-11 13:18:56" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000067" "00000067" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000069" "00000069" "1" "00004" "" "2012-05-11 13:18:57" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000072" "00000072" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000073" "00000073" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000074" "00000074" "1" "00004" "" "2012-05-11 13:18:59" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000076" "00000076" "1" "00004" "" "2012-05-11 13:19:02" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000077" "00000077" "1" "00004" "" "2012-05-11 13:19:03" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000078" "00000078" "1" "00004" "" "2012-05-11 13:19:04" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000081" "00000081" "1" "00004" "" "2012-05-11 13:19:05" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000082" "00000082" "1" "00004" "" "2012-05-11 13:19:08" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000084" "00000084" "1" "00004" "" "2012-05-11 13:19:09" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000086" "00000086" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000087" "00000087" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000088" "00000088" "1" "00004" "" "2012-05-11 13:19:14" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000089" "00000089" "1" "00004" "" "2012-05-11 13:19:15" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000090" "00000090" "1" "00004" "" "2012-05-11 13:19:16" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000092" "00000092" "1" "00004" "" "2012-05-11 13:19:17" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000093" "00000093" "1" "00004" "" "2012-05-11 13:19:20" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000094" "00000094" "1" "00004" "" "2012-05-11 13:19:21" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000095" "00000095" "1" "00004" "" "2012-05-11 13:19:24" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000096" "00000096" "1" "00004" "" "2012-05-11 13:19:25" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000097" "00000097" "1" "00004" "" "2012-05-11 13:19:28" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000098" "00000098" "1" "00004" "" "2012-05-11 13:19:34" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000101" "00000101" "1" "00004" "" "2012-05-11 13:19:44" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000107" "00000107" "1" "00004" "" "2012-05-11 13:19:58" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000147411" "00146556" "0" "01807" "01807" "2017-12-29 11:25:41" "" "" "SEQ" "DNA" "" "" "0000246831" "00245719" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246832" "00245720" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246833" "00245721" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246834" "00245722" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246835" "00245723" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246836" "00245724" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246837" "00245725" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246838" "00245726" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246839" "00245727" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246840" "00245728" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246841" "00245729" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246842" "00245730" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246843" "00245731" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246844" "00245732" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246845" "00245733" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246846" "00245734" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246847" "00245735" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246848" "00245736" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246849" "00245737" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246850" "00245738" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246851" "00245739" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246852" "00245740" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246853" "00245741" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246854" "00245742" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246855" "00245743" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000246856" "00245744" "1" "00000" "00002" "2011-07-12 13:27:20" "" "" "SEQ" "DNA" "" "" "0000265227" "00264105" "1" "01164" "01164" "2019-09-11 18:04:28" "" "" "SEQ-NG-S" "DNA" "" "" "0000294486" "00293318" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294487" "00293319" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294488" "00293320" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294489" "00293321" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294490" "00293322" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294491" "00293323" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307860" "00306727" "1" "03696" "03696" "2020-07-16 14:17:13" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000307861" "00306728" "1" "03696" "03696" "2020-07-16 14:41:40" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000307862" "00306729" "1" "03696" "03696" "2020-07-16 16:34:42" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000307986" "00306847" "1" "03696" "03696" "2020-07-21 12:00:20" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000308050" "00306913" "1" "03696" "03696" "2020-07-23 13:22:41" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000308051" "00306914" "1" "03696" "03696" "2020-07-23 13:32:08" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000308052" "00306915" "1" "03696" "03696" "2020-07-23 13:37:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000308053" "00306916" "1" "03696" "03696" "2020-07-23 13:55:30" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000308178" "00307037" "1" "03696" "03696" "2020-07-28 17:18:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000308249" "00307107" "1" "03696" "03696" "2020-07-31 15:00:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000308250" "00307108" "1" "03696" "03696" "2020-07-31 15:06:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000308251" "00307109" "1" "03696" "03696" "2020-07-31 15:21:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000308254" "00307112" "1" "03696" "03696" "2020-07-31 17:05:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000308713" "00307573" "1" "03696" "03696" "2020-08-14 16:35:41" "" "" "SEQ-NG-I" "DNA" "" "" "0000308714" "00307574" "1" "03696" "03696" "2020-08-14 16:41:39" "" "" "SEQ-NG-I" "DNA" "" "" "0000308715" "00307575" "1" "03696" "03696" "2020-08-14 16:50:01" "" "" "SEQ-NG-I" "DNA" "" "" "0000374950" "00373717" "1" "01864" "01864" "2021-05-19 05:36:33" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000375524" "00374330" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375939" "00374745" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000406361" "00405119" "1" "01164" "01164" "2022-03-16 11:27:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000415985" "00414704" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000415986" "00414705" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000415987" "00414706" "1" "00000" "03840" "2022-08-02 11:28:48" "" "" "SEQ-NG" "DNA;RNA" "blood" "" "0000457846" "00456229" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457849" "00456232" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457854" "00456237" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000457859" "00456242" "1" "00006" "00006" "2024-10-24 08:52:57" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000458170" "00456553" "1" "00006" "00006" "2024-10-28 14:01:06" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 784 "{{screeningid}}" "{{geneid}}" "0000000005" "ACADM" "0000000005" "ATP7B" "0000000005" "CFTR" "0000000005" "ETFB" "0000000005" "GLB1" "0000000005" "MEFV" "0000000005" "NHLRC1" "0000000005" "PKHD1" "0000000005" "RAPSN" "0000000005" "SERPINA1" "0000000005" "SLC26A2" "0000000005" "USH2A" "0000000009" "ACADM" "0000000009" "ARSB" "0000000009" "ATP7B" "0000000009" "CFTR" "0000000009" "CLN3" "0000000009" "ETFB" "0000000009" "GAN" "0000000009" "GLB1" "0000000009" "HEXB" "0000000009" "IGHMBP2" "0000000009" "MEFV" "0000000009" "NHLRC1" "0000000009" "NPHS1" "0000000009" "NTRK1" "0000000009" "PMP22" "0000000009" "SERPINA1" "0000000009" "WNT10A" "0000000011" "ACADM" "0000000011" "ADA" "0000000011" "ATP7B" "0000000011" "ATR" "0000000011" "CFTR" "0000000011" 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"0000000076" "SERPINA1" "0000000076" "SLC26A2" "0000000077" "AGXT" "0000000077" "ATP7B" "0000000077" "ETFB" "0000000077" "GLB1" "0000000077" "MYO5A" "0000000077" "NPHS1" "0000000077" "SERPINA1" "0000000077" "SLC26A2" "0000000077" "USH2A" "0000000078" "ATP7B" "0000000078" "CDH23" "0000000078" "CFTR" "0000000078" "ETFB" "0000000078" "GLB1" "0000000078" "IGHMBP2" "0000000078" "NPHS1" "0000000078" "PMM2" "0000000078" "POLG" "0000000078" "RAG1" "0000000078" "SERPINA1" "0000000078" "SLC26A2" "0000000081" "ADAMTS13" "0000000081" "ATP7B" "0000000081" "CDH23" "0000000081" "ETFB" "0000000081" "FKTN" "0000000081" "GLB1" "0000000081" "HEXB" "0000000081" "NPHS1" "0000000081" "SERPINA1" "0000000081" "SMPD1" "0000000082" "ATP7B" "0000000082" "CPT1A" "0000000082" "CYP21A2" "0000000082" "ETFB" "0000000082" "FAH" "0000000082" "GLB1" "0000000082" "MCOLN1" "0000000082" "MYO5A" "0000000082" "NHLRC1" "0000000082" "NPC2" "0000000084" "ADA" "0000000084" "CPT1A" "0000000084" "FKRP" "0000000084" "GAA" "0000000084" "GLB1" "0000000084" "MYO5A" "0000000084" "NHLRC1" "0000000084" "NPHS1" "0000000084" "RAG1" "0000000084" "SERPINA1" "0000000084" "SMPD1" "0000000086" "ARSB" "0000000086" "ATP7B" "0000000086" "BTD" "0000000086" "ETFB" "0000000086" "GLB1" "0000000086" "HEXB" "0000000086" "HPRT1" "0000000086" "IGHMBP2" "0000000086" "NHLRC1" "0000000086" "POLG" "0000000086" "SERPINA1" "0000000086" "SLC26A2" "0000000087" "AHI1" "0000000087" "ATP7B" "0000000087" "BTD" "0000000087" "CYP21A2" "0000000087" "ETFB" "0000000087" "FRAS1" "0000000087" "GLB1" "0000000087" "IGHMBP2" "0000000087" "NHLRC1" "0000000087" "SERPINA1" "0000000087" "SLC26A2" "0000000088" "ATP7B" "0000000088" "CFTR" "0000000088" "ETFB" "0000000088" "FKRP" "0000000088" "GALC" "0000000088" "GLB1" "0000000088" "HEXB" "0000000088" "IGHMBP2" "0000000088" "NHLRC1" "0000000088" "NPHS1" "0000000088" "POLG" "0000000088" "SBDS" "0000000088" "SERPINA1" "0000000089" "ATP7B" "0000000089" "BTD" "0000000089" "CFTR" "0000000089" "ETFB" "0000000089" "GALC" "0000000089" "GLB1" "0000000089" "IGHMBP2" "0000000089" "SMPD1" "0000000090" "CYP21A2" "0000000090" "ERCC4" "0000000090" "GLB1" "0000000090" "HEXB" "0000000090" "IGHMBP2" "0000000090" "LAMA2" "0000000090" "NHLRC1" "0000000090" "NPHS1" "0000000092" "ATP8B1" "0000000092" "ETFB" "0000000092" "GLB1" "0000000092" "IGHMBP2" "0000000092" "LAMA2" "0000000092" "MYO5A" "0000000092" "NPHS1" "0000000092" "SMPD1" "0000000093" "ATP7A" "0000000093" "ATP7B" "0000000093" "GLB1" "0000000093" "HBA1" "0000000093" "SERPINA1" "0000000093" "SMPD1" "0000000094" "AHI1" "0000000094" "ARSB" "0000000094" "ATP7B" "0000000094" "BTD" "0000000094" "ENPP1" "0000000094" "ETFB" "0000000094" "GCDH" "0000000094" "GLB1" "0000000094" "INVS" "0000000094" "MYO5A" "0000000094" "NPHS1" "0000000094" "SERPINA1" "0000000094" "SMPD1" "0000000095" "ATP7B" "0000000095" "CFTR" "0000000095" "GLB1" "0000000095" "HEXB" "0000000095" "NHLRC1" "0000000095" "NPHS1" "0000000095" "SMPD1" "0000000096" "AHI1" "0000000096" "ATP7B" "0000000096" "BTD" "0000000096" "COQ2" "0000000096" "ETFB" "0000000096" "GLB1" "0000000096" "HEXB" "0000000096" "NHLRC1" "0000000096" "SERPINA1" "0000000096" "USH1C" "0000000097" "ETFB" "0000000097" "FKTN" "0000000097" "GLB1" "0000000097" "PAH" "0000000097" "SERPINA1" "0000000098" "ATP7B" "0000000098" "GLB1" "0000000098" "NHLRC1" "0000000098" "SERPINA1" "0000000101" "ATP7B" "0000000101" "ETFB" "0000000101" "GLB1" "0000000101" "NPHS1" "0000000101" "SERPINA1" "0000000107" "ADA" "0000000107" "BTD" "0000000107" "CLN3" "0000000107" "CLRN1" "0000000107" "CYP21A2" "0000000107" "GLB1" "0000000107" "MEFV" "0000000107" "MYO5A" "0000000107" "NHLRC1" "0000000107" "NPHS1" "0000000107" "SERPINA1" "0000000107" "SLC26A2" "0000000107" "WNT10A" "0000246831" "GLB1" "0000246832" "GLB1" "0000246833" "GLB1" "0000246834" "GLB1" "0000246835" "GLB1" "0000246836" "GLB1" "0000246837" "GLB1" "0000246838" "GLB1" "0000246839" "GLB1" "0000246840" "GLB1" "0000246841" "GLB1" "0000246842" "GLB1" "0000246843" "GLB1" "0000246844" "GLB1" "0000246845" "GLB1" "0000246846" "GLB1" "0000246847" "GLB1" "0000246848" "GLB1" "0000246849" "GLB1" "0000246850" "GLB1" "0000246851" "GLB1" "0000246852" "GLB1" "0000246853" "GLB1" "0000246854" "GLB1" "0000246855" "GLB1" "0000246856" "GLB1" "0000307860" "GLB1" "0000307861" "GLB1" "0000307862" "GLB1" "0000307986" "GLB1" "0000308050" "GLB1" "0000308051" "GLB1" "0000308052" "GLB1" "0000308053" "GLB1" "0000308178" "GLB1" "0000308249" "GLB1" "0000308250" "GLB1" "0000308251" "GLB1" "0000308254" "GLB1" "0000308713" "GLB1" "0000308714" "GLB1" "0000308715" "GLB1" "0000374950" "GLB1" "0000375524" "GLB1" "0000375939" "GLB1" "0000406361" "GLB1" "0000415985" "GALT" "0000415986" "HPRT1" "0000415987" "HEXA" "0000458170" "GLB1" ## 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 = 253 "{{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}}" "0000000923" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000924" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000926" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000927" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000928" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000929" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000931" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000932" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000933" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000934" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000935" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000936" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000937" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000938" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000939" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000940" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000942" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000943" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000945" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000946" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000947" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000948" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000949" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000950" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000951" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000952" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000953" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000954" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000955" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000956" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000957" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000958" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000959" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000960" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000961" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000962" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000963" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000964" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000965" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000966" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000967" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000968" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000969" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000970" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000971" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000972" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000973" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000974" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000975" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000976" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000977" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000978" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000979" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000980" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000981" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000982" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000983" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000984" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000985" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000986" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000987" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000988" "0" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000989" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000990" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000000991" "3" "50" "3" "33138549" "33138549" "subst" "0.56764" "00002" "GLB1_000061" "g.33138549G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33097057G>A" "" "VUS" "" "0000002325" "0" "50" "3" "33119187" "33119187" "dup" "0" "00037" "GLB1_000038" "g.33119187dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33077695dup" "" "VUS" "" "0000002326" "0" "50" "3" "33119351" "33119351" "dup" "0" "00037" "GLB1_000043" "g.33119351dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33077859dup" "" "VUS" "" "0000003837" "3" "50" "3" "33119046" "33119046" "subst" "0" "00037" "GLB1_000042" "g.33119046A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33077554A>T" "" "VUS" "" "0000010369" "3" "50" "3" "33119187" "33119187" "dup" "0" "00037" "GLB1_000038" "g.33119187dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33077695dup" "" "VUS" "" "0000011819" "3" "50" "3" "33119046" "33119046" "subst" "0" "00037" "GLB1_000042" "g.33119046A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33077554A>T" "" "VUS" "" "0000011820" "3" "50" "3" "33119593" "33119593" "subst" "0" "00037" "GLB1_000037" "g.33119593T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33078101T>C" "" "VUS" "" "0000240206" "0" "90" "3" "33093481" "33093481" "subst" "1.62528E-5" "01807" "GLB1_000018" "g.33093481A>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.33051989A>C" "" "pathogenic" "" "0000240207" "0" "90" "3" "33099615" "33099615" "del" "0" "01807" "GLB1_000044" "g.33099615del" "" "" "" "699delG" "" "Unknown" "" "" "0" "" "" "g.33058123del" "" "pathogenic" "" "0000247945" "0" "10" "3" "33138544" "33138544" "subst" "0.908488" "02325" "GLB1_000059" "g.33138544A>G" "" "" "" "GLB1(NM_000404.3):c.34T>C (p.L12=), GLB1(NM_000404.4):c.34T>C (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33097052A>G" "" "benign" "" "0000248209" "0" "10" "3" "33055721" "33055721" "subst" "0.983075" "02325" "GLB1_000047" "g.33055721A>G" "" "" "" "GLB1(NM_000404.3):c.1561T>C (p.C521R), GLB1(NM_000404.4):c.1561T>C (p.C521R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33014229A>G" "" "benign" "" "0000250912" "0" "10" "3" "33055721" "33055721" "subst" "0.983075" "02326" "GLB1_000047" "g.33055721A>G" "" "" "" "GLB1(NM_000404.3):c.1561T>C (p.C521R), GLB1(NM_000404.4):c.1561T>C (p.C521R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33014229A>G" "" "benign" "" "0000253206" "0" "10" "3" "33138544" "33138544" "subst" "0.908488" "01943" "GLB1_000059" "g.33138544A>G" "" "" "" "GLB1(NM_000404.3):c.34T>C (p.L12=), GLB1(NM_000404.4):c.34T>C (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33097052A>G" "" "benign" "" "0000253774" "0" "10" "3" "33063050" "33063050" "subst" "0.194617" "01943" "GLB1_000052" "g.33063050A>G" "" "" "" "GLB1(NM_000404.3):c.1233+8T>C, GLB1(NM_000404.4):c.1233+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33021558A>G" "" "benign" "" "0000281053" "0" "90" "3" "33059966" "33059966" "subst" "1.21833E-5" "02325" "GLB1_000050" "g.33059966C>T" "" "" "" "GLB1(NM_000404.4):c.1321G>A (p.D441N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33018474C>T" "" "pathogenic" "" "0000281054" "0" "10" "3" "33055688" "33055688" "subst" "0.046907" "02325" "GLB1_000039" "g.33055688T>C" "" "" "" "GLB1(NM_000404.2):c.1594A>G (p.(Ser532Gly)), GLB1(NM_000404.3):c.1594A>G (p.S532G), GLB1(NM_000404.4):c.1594A>G (p.S532G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33014196T>C" "" "benign" "" "0000281055" "0" "90" "3" "33114105" "33114105" "subst" "3.65666E-5" "02325" "GLB1_000005" "g.33114105C>T" "" "" "" "GLB1(NM_000404.4):c.176G>A (p.R59H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33072613C>T" "" "pathogenic" "" "0000281056" "0" "10" "3" "33138549" "33138549" "subst" "0.56764" "02325" "GLB1_000001" "g.33138549G>A" "" "" "" "GLB1(NM_000404.3):c.29C>T (p.P10L), GLB1(NM_000404.4):c.29C>T (p.P10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33097057G>A" "" "benign" "" "0000281057" "0" "90" "3" "33099712" "33099712" "subst" "6.51285E-5" "02325" "GLB1_000022" "g.33099712C>T" "" "" "" "GLB1(NM_000404.4):c.602G>A (p.R201H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33058220C>T" "" "pathogenic" "" "0000281058" "0" "30" "3" "33099597" "33099597" "subst" "2.03321E-5" "02325" "GLB1_000055" "g.33099597C>T" "" "" "" "GLB1(NM_000404.4):c.717G>A (p.T239=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33058105C>T" "" "likely benign" "" "0000281059" "0" "10" "3" "33118631" "33118631" "subst" "0.127393" "02325" "GLB1_000057" "g.33118631G>A" "" "" "" "GLB1(NM_000404.4):c.76-4426C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33077139G>A" "" "benign" "" "0000284660" "0" "10" "3" "33059981" "33059981" "subst" "0.0114274" "02326" "GLB1_000051" "g.33059981G>A" "" "" "" "GLB1(NM_000404.2):c.1306C>T (p.(Leu436Phe)), GLB1(NM_000404.3):c.1306C>T (p.L436F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33018489G>A" "" "benign" "" "0000284661" "0" "10" "3" "33110383" "33110383" "subst" "0.0178339" "02326" "GLB1_000056" "g.33110383G>A" "" "" "" "GLB1(NM_000404.3):c.325C>T (p.R109W), GLB1(NM_000404.4):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33068891G>A" "" "benign" "" "0000288392" "0" "30" "3" "33055752" "33055752" "subst" "0.000155869" "01943" "GLB1_000048" "g.33055752C>T" "" "" "" "GLB1(NM_000404.3):c.1530G>A (p.T510=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33014260C>T" "" "likely benign" "" "0000288393" "0" "30" "3" "33058254" "33058254" "subst" "0.000560429" "01943" "GLB1_000049" "g.33058254G>A" "" "" "" "GLB1(NM_001317040.1):c.1570C>T (p.L524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33016762G>A" "" "likely benign" "" "0000288394" "0" "30" "3" "33055710" "33055710" "subst" "4.09182E-6" "01943" "GLB1_000046" "g.33055710C>G" "" "" "" "GLB1(NM_000404.3):c.1572G>C (p.L524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33014218C>G" "" "likely benign" "" "0000288395" "0" "10" "3" "33055688" "33055688" "subst" "0.046907" "01943" "GLB1_000039" "g.33055688T>C" "" "" "" "GLB1(NM_000404.2):c.1594A>G (p.(Ser532Gly)), GLB1(NM_000404.3):c.1594A>G (p.S532G), GLB1(NM_000404.4):c.1594A>G (p.S532G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33014196T>C" "" "benign" "" "0000288397" "0" "90" "3" "33114035" "33114035" "subst" "4.0662E-6" "01943" "GLB1_000041" "g.33114035C>T" "" "" "" "GLB1(NM_000404.3):c.245+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33072543C>T" "" "pathogenic" "" "0000288398" "0" "10" "3" "33138549" "33138549" "subst" "0.56764" "01943" "GLB1_000061" "g.33138549G>A" "" "" "" "GLB1(NM_000404.3):c.29C>T (p.P10L), GLB1(NM_000404.4):c.29C>T (p.P10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33097057G>A" "" "benign" "" "0000288399" "0" "90" "3" "33109743" "33109745" "del" "0" "01943" "GLB1_000022" "g.33109743_33109745del" "" "" "" "GLB1(NM_000404.3):c.438_440delTCT (p.L147del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33068251_33068253del" "" "pathogenic" "" "0000288400" "0" "90" "3" "33099713" "33099713" "subst" "4.47781E-5" "01943" "GLB1_000010" "g.33099713G>A" "" "" "" "GLB1(NM_000404.3):c.601C>T (p.R201C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33058221G>A" "" "pathogenic" "" "0000288402" "0" "90" "3" "33094988" "33094988" "subst" "0" "01943" "GLB1_000054" "g.33094988G>A" "" "" "" "GLB1(NM_000404.3):c.787C>T (p.P263S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33053496G>A" "" "pathogenic" "" "0000329301" "0" "30" "3" "33059981" "33059981" "subst" "0.0114274" "01804" "GLB1_000051" "g.33059981G>A" "" "" "" "GLB1(NM_000404.2):c.1306C>T (p.(Leu436Phe)), GLB1(NM_000404.3):c.1306C>T (p.L436F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33018489G>A" "" "likely benign" "" "0000337795" "0" "10" "3" "33063050" "33063050" "subst" "0.194617" "02327" "GLB1_000052" "g.33063050A>G" "" "" "" "GLB1(NM_000404.3):c.1233+8T>C, GLB1(NM_000404.4):c.1233+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33021558A>G" "" "benign" "" "0000337796" "0" "10" "3" "33107060" "33107060" "subst" "0.0870067" "02327" "GLB1_000036" "g.33107060A>G" "" "" "" "GLB1(NM_000404.3):c.458-11T>C, GLB1(NM_000404.4):c.458-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33065568A>G" "" "benign" "" "0000339887" "0" "10" "3" "33138544" "33138544" "subst" "0.908488" "02327" "GLB1_000059" "g.33138544A>G" "" "" "" "GLB1(NM_000404.3):c.34T>C (p.L12=), GLB1(NM_000404.4):c.34T>C (p.L12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33097052A>G" "" "benign" "" "0000342193" "0" "90" "3" "33099713" "33099713" "subst" "4.47781E-5" "02327" "GLB1_000010" "g.33099713G>A" "" "" "" "GLB1(NM_000404.3):c.601C>T (p.R201C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33058221G>A" "" "pathogenic" "" "0000342973" "0" "50" "3" "33058235" "33058235" "subst" "1.21827E-5" "02327" "GLB1_000002" "g.33058235C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33016743C>T" "" "VUS" "" "0000343156" "0" "90" "3" "33114105" "33114105" "subst" "3.65666E-5" "02327" "GLB1_000005" "g.33114105C>T" "" "" "" "GLB1(NM_000404.4):c.176G>A (p.R59H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33072613C>T" "" "pathogenic" "" "0000344415" "0" "10" "3" "33055721" "33055721" "subst" "0.983075" "02327" "GLB1_000047" "g.33055721A>G" "" "" "" "GLB1(NM_000404.3):c.1561T>C (p.C521R), GLB1(NM_000404.4):c.1561T>C (p.C521R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33014229A>G" "" "benign" "" "0000346438" "0" "90" "3" "33093448" "33093448" "subst" "8.12499E-6" "02327" "GLB1_000026" "g.33093448G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33051956G>A" "" "pathogenic" "" "0000346989" "0" "50" "3" "33099682" "33099682" "subst" "0" "02327" "GLB1_000035" "g.33099682A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33058190A>C" "" "VUS" "" "0000348132" "0" "10" "3" "33138549" "33138549" "subst" "0.56764" "02327" "GLB1_000061" "g.33138549G>A" "" "" "" "GLB1(NM_000404.3):c.29C>T (p.P10L), GLB1(NM_000404.4):c.29C>T (p.P10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33097057G>A" "" "benign" "" "0000350018" "0" "50" "3" "33093480" "33093480" "subst" "1.62518E-5" "02327" "GLB1_000034" "g.33093480T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33051988T>C" "" "VUS" "" "0000499627" "3" "95" "3" "33138501" "33138501" "dup" "0" "00000" "GLB1_000025" "g.33138501dup" "" "{PMID:Chakraborty et al 1994:8198123}" "" "c.75+3_3insT" "" "Unknown" "" "" "0" "" "" "g.33097009dup" "" "pathogenic (recessive)" "" "0000499628" "1" "95" "3" "33114136" "33114136" "subst" "1.62481E-5" "00000" "GLB1_000016" "g.33114136G>A" "" "{PMID:Nishimoto et al 1991:1909089}" "" "p.R49C" "" "Unknown" "" "" "0" "" "" "g.33072644G>A" "" "pathogenic (recessive)" "" "0000499629" "1" "95" "3" "33114129" "33114129" "subst" "0" "00000" "GLB1_000027" "g.33114129A>G" "" "{PMID:Oshima et al 1991:1928092}" "" "p.I51T" "" "Unknown" "" "" "0" "" "" "g.33072637A>G" "" "pathogenic (recessive)" "" "0000499630" "0" "95" "3" "33114120" "33114120" "subst" "0" "00000" "GLB1_000012" "g.33114120C>A" "" "{PMID:Higaki et al 2011:21520340}" "" "p.S54I" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.33072628C>A" "" "pathogenic (recessive)" "" "0000499631" "1" "95" "3" "33114106" "33114106" "subst" "4.87551E-5" "00000" "GLB1_000013" "g.33114106G>A" "" "{PMID:Caciotti et al 2005:16314480}" "" "p.R59C" "" "Unknown" "" "" "0" "" "" "g.33072614G>A" "" "pathogenic (recessive)" "" "0000499632" "1" "95" "3" "33114105" "33114105" "subst" "3.65666E-5" "00000" "GLB1_000005" "g.33114105C>T" "" "{PMID:Silva et al 1999:10338095}" "" "p.R59H" "" "Unknown" "" "" "0" "" "" "g.33072613C>T" "" "pathogenic (recessive)" "" "0000499633" "1" "95" "3" "33114105" "33114105" "subst" "3.65666E-5" "00000" "GLB1_000005" "g.33114105C>T" "" "{PMID:Silva et al 1999:10338095}" "" "p.R59H" "" "Unknown" "" "" "0" "" "" "g.33072613C>T" "" "pathogenic (recessive)" "" "0000499634" "3" "95" "3" "33114105" "33114105" "subst" "3.65666E-5" "00000" "GLB1_000005" "g.33114105C>T" "" "{PMID:Silva et al 1999:10338095}" "" "p.R59H" "" "Unknown" "" "" "0" "" "" "g.33072613C>T" "" "pathogenic (recessive)" "" "0000499635" "2" "95" "3" "33114036" "33114036" "subst" "4.47253E-5" "00000" "GLB1_000014" "g.33114036G>A" "" "{PMID:Chakraborty et al 1994:8198123}" "" "p.T82M" "" "Unknown" "" "" "0" "" "" "g.33072544G>A" "" "pathogenic (recessive)" "" "0000499636" "0" "95" "3" "33110433" "33110433" "dup" "0" "00000" "GLB1_000008" "g.33110433dup" "" "{PMID:Higaki et al 2011:21520340}" "" "c.276-277insG; p.P93AfsX7" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.33068941dup" "" "pathogenic (recessive)" "" "0000499637" "3" "95" "3" "33110432" "33110432" "subst" "1.62529E-5" "00000" "GLB1_000024" "g.33110432C>T" "" "{PMID:Higaki et al 2011:21520340}" "" "p.W92X" "" "Unknown" "" "" "0" "" "" "g.33068940C>T" "" "pathogenic (recessive)" "" "0000499638" "2" "95" "3" "33110317" "33110317" "subst" "0" "00000" "GLB1_000017" "g.33110317C>T" "" "{PMID:Higaki et al 2011:21520340}" "" "p.E131K" "" "Unknown" "" "" "0" "" "" "g.33068825C>T" "" "pathogenic (recessive)" "" "0000499639" "0" "95" "3" "33109751" "33109751" "dup" "0" "00000" "GLB1_000029" "g.33109751dup" "" "{PMID:Higaki et al 2011:21520340}" "" "c.428_429insA; p.S144VfsX42" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.33068259dup" "" "pathogenic (recessive)" "" "0000499640" "0" "95" "3" "33109743" "33109745" "del" "0" "00000" "GLB1_000022" "g.33109743_33109745del" "" "{PMID:Higaki et al 2011:21520340}" "" "c.436_438delCTT; p.L146del" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.33068251_33068253del" "" "pathogenic (recessive)" "" "0000499641" "0" "95" "3" "33109737" "33109737" "subst" "4.06633E-5" "00000" "GLB1_000003" "g.33109737G>A" "" "{PMID:Nishimoto et al 1991:1909089}" "" "p.R148C" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.33068245G>A" "" "pathogenic (recessive)" "" "0000499642" "3" "95" "3" "33106965" "33106965" "subst" "0" "00000" "GLB1_000009" "g.33106965A>T" "" "{PMID:Hofer et al 2010:20175788}" "" "p.I81K" "" "Unknown" "" "" "0" "" "" "g.33065473A>T" "" "pathogenic (recessive)" "" "0000499643" "3" "95" "3" "33099745" "33099745" "subst" "1.22428E-5" "00000" "GLB1_000023" "g.33099745C>T" "" "{PMID:Hofer et al 2009:19472408}" "" "p.G190D" "" "Unknown" "" "" "0" "" "" "g.33058253C>T" "" "pathogenic (recessive)" "" "0000499644" "3" "95" "3" "33099745" "33099745" "subst" "1.22428E-5" "00000" "GLB1_000023" "g.33099745C>T" "" "{PMID:Hofer et al 2009:19472408}" "" "p.G190D" "" "Unknown" "" "" "0" "" "" "g.33058253C>T" "" "pathogenic (recessive)" "" "0000499645" "3" "95" "3" "33099745" "33099745" "subst" "1.22428E-5" "00000" "GLB1_000023" "g.33099745C>T" "" "{PMID:Hofer et al 2009:19472408}" "" "p.G190D" "" "Unknown" "" "" "0" "" "" "g.33058253C>T" "" "pathogenic (recessive)" "" "0000499646" "1" "95" "3" "33099713" "33099713" "subst" "4.47781E-5" "00000" "GLB1_000010" "g.33099713G>A" "" "{PMID:Oshima et al 1991:1928092}" "" "p.R201C" "" "Unknown" "" "" "0" "" "" "g.33058221G>A" "" "pathogenic (recessive)" "" "0000499647" "1" "95" "3" "33099713" "33099713" "subst" "4.47781E-5" "00000" "GLB1_000010" "g.33099713G>A" "" "{PMID:Oshima et al 1991:1928092}" "" "p.R201C" "" "Unknown" "" "" "0" "" "" "g.33058221G>A" "" "pathogenic (recessive)" "" "0000499648" "1" "95" "3" "33099713" "33099713" "subst" "4.47781E-5" "00000" "GLB1_000010" "g.33099713G>A" "" "{PMID:Oshima et al 1991:1928092}" "" "p.R201C" "" "Unknown" "" "" "0" "" "" "g.33058221G>A" "" "pathogenic (recessive)" "" "0000499649" "2" "95" "3" "33099712" "33099712" "subst" "6.51285E-5" "00000" "GLB1_000011" "g.33099712C>T" "" "" "" "p.R201H" "" "Unknown" "" "" "0" "" "" "g.33058220C>T" "" "pathogenic (recessive)" "" "0000499650" "1" "95" "3" "33099712" "33099712" "subst" "6.51285E-5" "00000" "GLB1_000011" "g.33099712C>T" "" "" "" "p.R201H" "" "Unknown" "" "" "0" "" "" "g.33058220C>T" "" "pathogenic (recessive)" "" "0000499651" "3" "95" "3" "33099692" "33099692" "subst" "4.06865E-5" "00000" "GLB1_000004" "g.33099692G>A" "" "{PMID:Boustany et al 1993:8213816}" "" "p.R208C" "" "Unknown" "" "" "0" "" "" "g.33058200G>A" "" "pathogenic (recessive)" "" "0000499652" "2" "95" "3" "33093481" "33093481" "subst" "1.62528E-5" "00000" "GLB1_000018" "g.33093481A>C" "" "{PMID:Paschke et al 2001:11511921}" "" "p.Y270D" "" "Unknown" "" "" "0" "" "" "g.33051989A>C" "" "pathogenic (recessive)" "" "0000499653" "0" "95" "3" "33093448" "33093448" "subst" "8.12499E-6" "00000" "GLB1_000026" "g.33093448G>A" "" "{PMID:Paschke et al 2001:11511921}" "" "p.H281Y" "unknown variant 2nd chromosome" "Unknown" "" "" "0" "" "" "g.33051956G>A" "" "pathogenic (recessive)" "" "0000499654" "2" "95" "3" "33093258" "33093258" "subst" "0" "00000" "GLB1_000028" "g.33093258T>C" "" "{PMID:Oshima et al 1991:1928092}" "" "p.Y316C" "" "Unknown" "" "" "0" "" "" "g.33051766T>C" "" "pathogenic (recessive)" "" "0000499655" "2" "95" "3" "33087684" "33087684" "subst" "0" "00000" "GLB1_000006" "g.33087684G>C" "" "{PMID:Hofer et al 2009:19472408}" "" "p.D332E" "" "Unknown" "" "" "0" "" "" "g.33046192G>C" "" "pathogenic (recessive)" "" "0000499656" "2" "95" "3" "33060028" "33060028" "subst" "0" "00000" "GLB1_000015" "g.33060028G>T" "" "{PMID:Santamaria et al 2006:16941474}" "" "p.T420K" "" "Unknown" "" "" "0" "" "" "g.33018536G>T" "" "pathogenic (recessive)" "" "0000499657" "1" "95" "3" "33059944" "33059944" "subst" "1.62442E-5" "00000" "GLB1_000019" "g.33059944T>A" "" "{PMID:Hofer et al 2010:20175788}" "" "p.D448V" "" "Unknown" "" "" "0" "" "" "g.33018452T>A" "" "pathogenic (recessive)" "" "0000499658" "1" "95" "3" "33058242" "33058242" "subst" "8.1217E-6" "00000" "GLB1_000001" "g.33058242T>C" "" "{PMID:Higaki et al 2011:21520340}" "" "p.M480V" "" "Unknown" "" "" "0" "" "" "g.33016750T>C" "" "pathogenic (recessive)" "" "0000499659" "2" "95" "3" "33058239" "33058239" "subst" "0" "00000" "GLB1_000030" "g.33058239C>A" "" "{PMID:Santamaria et al 2006:16941474}" "" "p.G481X" "" "Unknown" "" "" "0" "" "" "g.33016747C>A" "" "pathogenic (recessive)" "" "0000499660" "2" "95" "3" "33058235" "33058235" "subst" "1.21827E-5" "00000" "GLB1_000002" "g.33058235C>T" "" "{PMID:Mosna et al 1992:1487238}" "" "p.R482H" "" "Unknown" "" "" "0" "" "" "g.33016743C>T" "" "pathogenic (recessive)" "" "0000499661" "1" "95" "3" "33058235" "33058235" "subst" "1.21827E-5" "00000" "GLB1_000002" "g.33058235C>T" "" "{PMID:Mosna et al 1992:1487238}" "" "p.R482H" "" "Unknown" "" "" "0" "" "" "g.33016743C>T" "" "pathogenic (recessive)" "" "0000499662" "2" "95" "3" "33055636" "33055636" "subst" "2.44439E-5" "00000" "GLB1_000007" "g.33055636G>A" "" "{PMID:Santamaria et al 2007:17309651}" "" "p.P549L" "" "Unknown" "" "" "0" "" "" "g.33014144G>A" "" "pathogenic (recessive)" "" "0000499663" "2" "95" "3" "33038825" "33038825" "subst" "4.0866E-6" "00000" "GLB1_000020" "g.33038825C>T" "" "{PMID:Higaki et al 2011:21520340}" "" "p.W582X" "" "Unknown" "" "" "0" "" "" "g.32997333C>T" "" "pathogenic (recessive)" "" "0000499664" "2" "95" "3" "33038751" "33038751" "subst" "0" "00000" "GLB1_000021" "g.33038751A>G" "" "{PMID:Higaki et al 2011:21520340}" "" "p.L608P; this position is not correct for the described nucleotide change" "" "Unknown" "" "" "0" "" "" "g.32997259A>G" "" "pathogenic (recessive)" "" "0000519021" "0" "30" "3" "33038850" "33038851" "dup" "0" "01943" "GLB1_000062" "g.33038850_33038851dup" "" "" "" "GLB1(NM_000404.3):c.1735-5_1735-4dupTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32997358_32997359dup" "" "likely benign" "" "0000519022" "0" "70" "3" "33055549" "33055549" "subst" "3.68683E-5" "02327" "GLB1_000063" "g.33055549T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33014057T>C" "" "likely pathogenic" "" "0000519023" "0" "30" "3" "33055603" "33055603" "subst" "8.15814E-6" "01943" "GLB1_000064" "g.33055603C>T" "" "" "" "GLB1(NM_000404.3):c.1679G>A (p.S560N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33014111C>T" "" "likely benign" "" "0000519024" "0" "30" "3" "33055607" "33055607" "subst" "0" "01943" "GLB1_000065" "g.33055607G>A" "" "" "" "GLB1(NM_001317040.1):c.1819C>T (p.P607S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33014115G>A" "" "likely benign" "" "0000519025" "0" "30" "3" "33055688" "33055688" "subst" "0.046907" "01804" "GLB1_000039" "g.33055688T>C" "" "" "" "GLB1(NM_000404.2):c.1594A>G (p.(Ser532Gly)), GLB1(NM_000404.3):c.1594A>G (p.S532G), GLB1(NM_000404.4):c.1594A>G (p.S532G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33014196T>C" "" "likely benign" "" "0000519026" "0" "90" "3" "33058333" "33058333" "subst" "0" "01943" "GLB1_000066" "g.33058333C>G" "" "" "" "GLB1(NM_001317040.1):c.1492-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33016841C>G" "" "pathogenic" "" "0000519027" "0" "50" "3" "33060002" "33060002" "subst" "0.000243659" "01943" "GLB1_000067" "g.33060002G>A" "" "" "" "GLB1(NM_001317040.1):c.1429C>T (p.P477S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33018510G>A" "" "VUS" "" "0000519028" "0" "30" "3" "33065791" "33065791" "subst" "0.000208396" "01943" "GLB1_000068" "g.33065791G>A" "" "" "" "GLB1(NM_001317040.1):c.1239C>T (p.I413=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33024299G>A" "" "likely benign" "" "0000519029" "0" "30" "3" "33087648" "33087648" "subst" "0.00188877" "01943" "GLB1_000069" "g.33087648A>G" "" "" "" "GLB1(NM_001317040.1):c.1176T>C (p.T392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33046156A>G" "" "likely benign" "" "0000519030" "0" "30" "3" "33094973" "33094973" "subst" "7.31339E-5" "01943" "GLB1_000070" "g.33094973C>T" "" "" "" "GLB1(NM_001317040.1):c.936+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33053481C>T" "" "likely benign" "" "0000519031" "0" "30" "3" "33099691" "33099691" "subst" "0.00111884" "01943" "GLB1_000071" "g.33099691C>T" "" "" "" "GLB1(NM_000404.2):c.623G>A (p.(Arg208His)), GLB1(NM_001317040.1):c.767G>A (p.R256H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33058199C>T" "" "likely benign" "" "0000519032" "0" "30" "3" "33099691" "33099691" "subst" "0.00111884" "01804" "GLB1_000071" "g.33099691C>T" "" "" "" "GLB1(NM_000404.2):c.623G>A (p.(Arg208His)), GLB1(NM_001317040.1):c.767G>A (p.R256H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33058199C>T" "" "likely benign" "" "0000519033" "0" "10" "3" "33107060" "33107060" "subst" "0.0870067" "01943" "GLB1_000036" "g.33107060A>G" "" "" "" "GLB1(NM_000404.3):c.458-11T>C, GLB1(NM_000404.4):c.458-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33065568A>G" "" "benign" "" "0000519034" "0" "90" "3" "33109737" "33109737" "subst" "4.06633E-5" "01804" "GLB1_000003" "g.33109737G>A" "" "" "" "GLB1(NM_000404.4):c.442C>T (p.(Arg148Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33068245G>A" "" "pathogenic" "" "0000519035" "0" "90" "3" "33109737" "33109737" "subst" "4.06633E-5" "01943" "GLB1_000072" "g.33109737G>T" "" "" "" "GLB1(NM_000404.3):c.442C>A (p.R148S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33068245G>T" "" "pathogenic" "" "0000519036" "0" "70" "3" "33114036" "33114036" "subst" "4.47253E-5" "02327" "GLB1_000014" "g.33114036G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33072544G>A" "" "likely pathogenic" "" "0000519037" "0" "50" "3" "33114046" "33114046" "subst" "5.69147E-5" "01804" "GLB1_000073" "g.33114046C>T" "" "" "" "GLB1(NM_000404.2):c.235G>A (p.(Ala79Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33072554C>T" "" "VUS" "" "0000519038" "0" "30" "3" "33114063" "33114063" "subst" "4.06388E-6" "01804" "GLB1_000074" "g.33114063T>C" "" "" "" "GLB1(NM_000404.2):c.218A>G (p.(Lys73Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33072571T>C" "" "likely benign" "" "0000519039" "0" "50" "3" "33114075" "33114075" "subst" "0" "02327" "GLB1_000075" "g.33114075A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33072583A>G" "" "VUS" "" "0000519040" "0" "90" "3" "33114106" "33114106" "subst" "4.87551E-5" "01804" "GLB1_000013" "g.33114106G>A" "" "" "" "GLB1(NM_000404.2):c.175C>T (p.(Arg59Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33072614G>A" "" "pathogenic" "" "0000519041" "0" "90" "3" "33114106" "33114106" "subst" "4.87551E-5" "02327" "GLB1_000013" "g.33114106G>A" "" "" "" "GLB1(NM_000404.2):c.175C>T (p.(Arg59Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33072614G>A" "" "pathogenic" "" "0000519042" "0" "50" "3" "33114135" "33114135" "subst" "2.03097E-5" "01943" "GLB1_000076" "g.33114135C>T" "" "" "" "GLB1(NM_001317040.1):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33072643C>T" "" "VUS" "" "0000519043" "0" "50" "3" "33118596" "33118596" "subst" "0.000237852" "01943" "GLB1_000077" "g.33118596C>T" "" "" "" "GLB1(NM_001317040.1):c.209G>A (p.R70Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33077104C>T" "" "VUS" "" "0000519044" "0" "70" "3" "33138501" "33138501" "dup" "0" "01943" "GLB1_000078" "g.33138501dup" "" "" "" "GLB1(NM_001317040.1):c.75+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33097009dup" "" "likely pathogenic" "" "0000519045" "0" "30" "3" "33138570" "33138570" "subst" "8.23493E-6" "01804" "GLB1_000079" "g.33138570C>A" "" "" "" "GLB1(NM_000404.2):c.8G>T (p.(Gly3Val)), GLB1(NM_000404.4):c.8G>T (p.G3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33097078C>A" "" "likely benign" "" "0000519046" "0" "50" "3" "33138570" "33138570" "subst" "8.23493E-6" "02325" "GLB1_000079" "g.33138570C>A" "" "" "" "GLB1(NM_000404.2):c.8G>T (p.(Gly3Val)), GLB1(NM_000404.4):c.8G>T (p.G3V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33097078C>A" "" "VUS" "" "0000595815" "0" "90" "3" "33099692" "33099692" "subst" "4.06865E-5" "01164" "GLB1_000004" "g.33099692G>A" "" "" "" "" "ACMG grading: PM3,PP3,PS4,PM2,PP1; reported in Boustany 1993. Am J Hum Genet 53: 881; Caciotti 2005. Hum Mutat 25: 285" "Germline" "" "rs72555366" "0" "" "" "g.33058200G>A" "" "pathogenic" "ACMG" "0000595816" "0" "70" "3" "33107026" "33107026" "subst" "5.11598E-6" "01164" "GLB1_000080" "g.33107026A>C" "" "" "" "" "ACMG grading: PM3,PP3,PS4,PM2; PS3_moderate; reported in Caciotti 2011. Biochim Biophys Acta 7: 782; Higaki 2011. Hum Mutat 32: 843; Kwak 2015. Biochem Biophys Res Commun 457: 554" "Germline" "" "rs398123355" "0" "" "" "g.33065534A>C" "" "likely pathogenic" "ACMG" "0000608494" "0" "30" "3" "33055638" "33055638" "subst" "0" "01943" "GLB1_000081" "g.33055638G>C" "" "" "" "GLB1(NM_001317040.1):c.1788C>G (p.L596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33014146G>C" "" "likely benign" "" "0000608495" "0" "10" "3" "33055688" "33055688" "subst" "0.046907" "02327" "GLB1_000039" "g.33055688T>C" "" "" "" "GLB1(NM_000404.2):c.1594A>G (p.(Ser532Gly)), GLB1(NM_000404.3):c.1594A>G (p.S532G), GLB1(NM_000404.4):c.1594A>G (p.S532G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33014196T>C" "" "benign" "" "0000608496" "0" "50" "3" "33109755" "33109755" "subst" "0" "02327" "GLB1_000083" "g.33109755T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33068263T>C" "" "VUS" "" "0000608497" "0" "30" "3" "33118742" "33118742" "subst" "0" "02327" "GLB1_000084" "g.33118742A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33077250A>G" "" "likely benign" "" "0000621242" "0" "50" "3" "33087628" "33087628" "subst" "8.12532E-6" "02325" "GLB1_000082" "g.33087628C>T" "" "" "" "GLB1(NM_001317040.2):c.1196G>A (p.R399Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33046136C>T" "" "VUS" "" "0000651175" "1" "50" "3" "33038802" "33038802" "subst" "1.22051E-5" "03575" "GLB1_000085" "g.33038802C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs398123351}" "Germline" "" "rs398123351" "0" "" "" "g.32997310C>T" "" "VUS" "" "0000651176" "1" "30" "3" "33059977" "33059977" "subst" "0.000710671" "03575" "GLB1_000086" "g.33059977T>C" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs202237232}" "Germline" "" "rs202237232" "0" "" "" "g.33018485T>C" "" "likely benign" "" "0000651177" "1" "30" "3" "33059981" "33059981" "subst" "0.0114274" "03575" "GLB1_000051" "g.33059981G>A" "19/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs34421970}" "Germline" "" "rs34421970" "0" "" "" "g.33018489G>A" "" "likely benign" "" "0000651178" "1" "90" "3" "33093471" "33093471" "subst" "5.28172E-5" "03575" "GLB1_000087" "g.33093471C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs72555362}" "Germline" "" "rs72555362" "0" "" "" "g.33051979C>A" "" "pathogenic" "" "0000651179" "1" "30" "3" "33110383" "33110383" "subst" "0.0178339" "03575" "GLB1_000056" "g.33110383G>A" "17/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "17 heterozygous, no homozygous; {DB:CLININrs35289681}" "Germline" "" "rs35289681" "0" "" "" "g.33068891G>A" "" "likely benign" "" "0000651180" "1" "50" "3" "33114078" "33114078" "subst" "8.12711E-6" "03575" "GLB1_000088" "g.33114078C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs572237881}" "Germline" "" "rs572237881" "0" "" "" "g.33072586C>T" "" "VUS" "" "0000654875" "0" "70" "3" "33038825" "33038825" "subst" "0" "02327" "GLB1_000089" "g.33038825C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.32997333C>A" "" "likely pathogenic" "" "0000674669" "0" "50" "3" "33087656" "33087656" "subst" "0" "03696" "GLB1_000093" "g.33087656C>T" "" "Tebani et al. 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000674670" "0" "50" "3" "33099598" "33099598" "subst" "1.6267E-5" "03696" "GLB1_000094" "g.33099598G>A" "" "Caciotti et al. 2005" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000674671" "0" "50" "3" "33058250" "33058250" "subst" "0" "03696" "GLB1_000092" "g.33058250A>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000674672" "0" "50" "3" "33038670" "33038670" "subst" "0" "03696" "GLB1_000090" "g.33038670C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000674673" "0" "50" "3" "33058226" "33058226" "subst" "0" "03696" "GLB1_000091" "g.33058226T>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000674674" "0" "50" "3" "33099692" "33099692" "subst" "4.06865E-5" "03696" "GLB1_000004" "g.33099692G>A" "" "Boustany et al. 1993" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000674804" "3" "70" "3" "33058224" "33058224" "subst" "4.06088E-6" "03696" "GLB1_000098" "g.33058224C>T" "" "Tebani et al. 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000674890" "0" "70" "3" "33114132" "33114132" "subst" "4.06187E-6" "03696" "GLB1_000099" "g.33114132T>C" "" "Tebani et al. 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000674891" "0" "50" "3" "33055549" "33055549" "subst" "3.68683E-5" "03696" "GLB1_000063" "g.33055549T>C" "" "Boustany et al. 1993" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000674892" "3" "50" "3" "33055705" "33055705" "subst" "0.00119452" "03696" "GLB1_000097" "g.33055705C>T" "" "Tebani et al. 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000674893" "3" "70" "3" "33038743" "33038746" "del" "0" "03696" "GLB1_000095" "g.33038743_33038746del" "" "Tebani et al. 2020, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000674894" "0" "50" "3" "33138501" "33138501" "dup" "0" "03696" "GLB1_000025" "g.33138501dup" "" "Chakraborty et al. 1994" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000674895" "0" "50" "3" "33038761" "33038761" "subst" "0" "03696" "GLB1_000096" "g.33038761G>A" "" "Tebani et al. 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000675025" "0" "50" "3" "33114065" "33114065" "subst" "0" "03696" "GLB1_000100" "g.33114065C>T" "" "Tebani et al. 2020, submitted" "" "33114065C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33072573C>T" "" "VUS" "" "0000675027" "0" "50" "3" "33099712" "33099712" "subst" "6.51285E-5" "03696" "GLB1_000011" "g.33099712C>T" "" "Kaye et al. 1997" "" "33114065C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.33058220C>T" "" "VUS" "" "0000675144" "3" "50" "3" "33138576" "33138576" "subst" "0" "03696" "GLB1_000104" "g.33138576A>G" "" "Tebani et al. 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000675145" "0" "50" "3" "33110385" "33110385" "subst" "0" "03696" "GLB1_000103" "g.33110385A>G" "" "Tebani et al. 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000675146" "0" "50" "3" "33093471" "33093472" "delins" "0" "03696" "GLB1_000053" "g.33093471_33093472delinsAG" "" "Oshima et al. 1991" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000675147" "0" "70" "3" "33114035" "33114035" "subst" "4.0662E-6" "03696" "GLB1_000041" "g.33114035C>T" "" "Georgiou et al. 2004" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000675148" "0" "50" "3" "33109740" "33109740" "subst" "0" "03696" "GLB1_000102" "g.33109740G>A" "" "Tebani et al. 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000675151" "3" "70" "3" "33107022" "33107022" "del" "0" "03696" "GLB1_000101" "g.33107022del" "" "Tebani et al. 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000683123" "3" "50" "3" "33099691" "33099691" "subst" "0" "03696" "GLB1_000107" "g.33099691C>G" "" "Tebani et al. 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000683124" "0" "50" "3" "33093460" "33093460" "subst" "0" "03696" "GLB1_000106" "g.33093460A>G" "" "Tebani et al. 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000683125" "0" "50" "3" "33099692" "33099692" "subst" "4.06865E-5" "03696" "GLB1_000004" "g.33099692G>A" "" "Boustany et al. 1993" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000683126" "0" "50" "3" "33093427" "33093433" "del" "0" "03696" "GLB1_000105" "g.33093427_33093433del" "" "Tebani et al. 2020, submitted" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000683127" "0" "50" "3" "33114106" "33114106" "subst" "4.87551E-5" "03696" "GLB1_000013" "g.33114106G>A" "" "Caciotti et al. 2005" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000719349" "0" "30" "3" "33055694" "33055694" "subst" "0.000188045" "01804" "GLB1_000108" "g.33055694G>A" "" "" "" "GLB1(NM_000404.2):c.1588C>T (p.(Arg530Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000785862" "3" "90" "3" "33106987" "33106987" "subst" "0" "01864" "GLB1_000109" "g.33106987A>G" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000786875" "0" "90" "3" "33114136" "33114136" "subst" "1.62481E-5" "00006" "GLB1_000016" "g.33114136G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.33072644G>A" "" "pathogenic" "" "0000787290" "3" "50" "3" "33093390" "33093390" "subst" "0" "00006" "GLB1_000111" "g.33093390C>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.33051898C>A" "" "VUS" "" "0000787481" "0" "70" "3" "33059962" "33059962" "subst" "5.2794E-5" "00000" "GLB1_000110" "g.33059962C>T" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.33018470C>T" "" "likely pathogenic" "" "0000801157" "0" "30" "3" "33138547" "33138547" "subst" "0.000279884" "01943" "GLB1_000112" "g.33138547G>C" "" "" "" "GLB1(NM_001317040.1):c.31C>G (p.L11V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000842683" "0" "70" "3" "33093481" "33093481" "subst" "1.62528E-5" "01164" "GLB1_000018" "g.33093481A>C" "" "PMID: 21520340, 21520340, 19472408, 11511921" "" "" "ACMG: PS3_MOD, PS4_MOD, PM5, PM2_SUP, PP3 / PMID: 21520340, 19472408, 11511921, Invitae: observed in several individuals affected with GLB1-related conditions \r\nPMID: 21520340, 19472408: most pronounced variant effect results in <10% of normal activity" "Germline" "?" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000842684" "0" "50" "3" "33058209" "33058209" "subst" "1.62442E-5" "01164" "GLB1_000113" "g.33058209C>T" "" "" "" "" "ACMG: PM3, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000873903" "0" "10" "3" "33138549" "33138549" "subst" "0.56764" "00000" "GLB1_000001" "g.33138549G>A" "" "{PMID:Bell 2011:21228398}" "" "GLB1 3:33113553 (hg18) het CM055955 70.2%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.33097057G>A" "" "benign" "" "0000873914" "0" "10" "3" "33138549" "33138549" "subst" "0.56764" "00000" "GLB1_000001" "g.33138549G>A" "" "{PMID:Bell 2011:21228398}" "" "GLB1 3:33113553 (hg18) het CM055955 70.2%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.33097057G>A" "" "benign" "" "0000873930" "0" "10" "3" "33138549" "33138549" "subst" "0.56764" "00000" "GLB1_000001" "g.33138549G>A" "" "{PMID:Bell 2011:21228398}" "" "GLB1 3:33113553 (hg18) het CM055955 70.2%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.33097057G>A" "" "benign" "" "0000911890" "0" "70" "3" "33038802" "33038802" "subst" "1.22051E-5" "02327" "GLB1_000085" "g.33038802C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911891" "0" "10" "3" "33063050" "33063050" "subst" "0.194617" "02325" "GLB1_000052" "g.33063050A>G" "" "" "" "GLB1(NM_000404.3):c.1233+8T>C, GLB1(NM_000404.4):c.1233+8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911892" "0" "10" "3" "33093515" "33093515" "subst" "0.00159949" "02325" "GLB1_000114" "g.33093515G>A" "" "" "" "GLB1(NM_000404.4):c.793-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911893" "0" "10" "3" "33107060" "33107060" "subst" "0.0870067" "02325" "GLB1_000036" "g.33107060A>G" "" "" "" "GLB1(NM_000404.3):c.458-11T>C, GLB1(NM_000404.4):c.458-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000923905" "0" "30" "3" "33055642" "33055642" "subst" "8.96196E-5" "01804" "GLB1_000115" "g.33055642G>A" "" "" "" "GLB1(NM_000404.2):c.1640C>T (p.(Thr547Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923906" "0" "30" "3" "33110383" "33110383" "subst" "0.0178339" "02325" "GLB1_000056" "g.33110383G>A" "" "" "" "GLB1(NM_000404.3):c.325C>T (p.R109W), GLB1(NM_000404.4):c.325C>T (p.R109W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000932928" "0" "90" "3" "33114105" "33114105" "subst" "3.65666E-5" "03779" "GLB1_000005" "g.33114105C>T" "" "" "" "" "" "Unknown" "" "rs72555392" "0" "" "" "" "" "pathogenic" "" "0000948115" "0" "30" "3" "33059977" "33059977" "subst" "0.000710671" "01804" "GLB1_000086" "g.33059977T>C" "" "" "" "GLB1(NM_000404.2):c.1310A>G (p.(Asn437Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975750" "0" "50" "3" "33060031" "33060031" "subst" "3.65488E-5" "01804" "GLB1_000118" "g.33060031C>T" "" "" "" "GLB1(NM_000404.4):c.1256G>A (p.(Arg419Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975751" "0" "50" "3" "33087662" "33087662" "subst" "0" "01804" "GLB1_000119" "g.33087662C>T" "" "" "" "GLB1(NM_000404.4):c.1018G>A (p.(Ala340Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975752" "0" "50" "3" "33110373" "33110373" "subst" "1.62487E-5" "01804" "GLB1_000120" "g.33110373T>C" "" "" "" "GLB1(NM_000404.4):c.335A>G (p.(His112Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975753" "0" "50" "3" "33114153" "33114153" "subst" "0" "01804" "GLB1_000121" "g.33114153T>C" "" "" "" "GLB1(NM_000404.4):c.128A>G (p.(Lys43Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975754" "0" "50" "3" "33118640" "33118641" "ins" "2.09389E-5" "01804" "GLB1_000122" "g.33118640_33118641insTT" "" "" "" "GLB1(NM_001317040.2):c.164_165insAA (p.(Asn56Argfs*64))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975755" "0" "50" "3" "33118643" "33118644" "ins" "0" "01804" "GLB1_000123" "g.33118643_33118644insACCTCTTTT" "" "" "" "GLB1(NM_001317040.2):c.162_163insAAAGAGGTA (p.(Ala54_Pro55insLysGluVal))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993580" "0" "50" "3" "33055615" "33055615" "subst" "0" "01804" "GLB1_000124" "g.33055615A>G" "" "" "" "GLB1(NM_000404.2):c.1667T>C (p.(Phe556Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001012393" "3" "90" "3" "33093283" "33093283" "subst" "0" "00006" "GLB1_000126" "g.33093283A>G" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.33051791A>G" "" "pathogenic (recessive)" "" "0001012396" "1" "90" "3" "33099712" "33099712" "subst" "6.51285E-5" "00006" "GLB1_000011" "g.33099712C>T" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.33058220C>T" "" "pathogenic (recessive)" "" "0001012401" "3" "90" "3" "33099642" "33099643" "del" "0" "00006" "GLB1_000127" "g.33099642_33099643del" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "671_672delAT" "" "Germline" "" "" "0" "" "" "g.33058150_33058151del" "" "pathogenic (recessive)" "" "0001012406" "1" "90" "3" "33093258" "33093258" "subst" "0" "00006" "GLB1_000028" "g.33093258T>C" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "" "" "Germline" "" "" "0" "" "" "g.33051766T>C" "" "pathogenic (recessive)" "" "0001012437" "2" "90" "3" "33063105" "33063105" "dup" "0" "00006" "GLB1_000125" "g.33063105dup" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "1188_1188dupG" "" "Germline" "" "" "0" "" "" "g.33021613dup" "" "pathogenic (recessive)" "" "0001012442" "2" "90" "3" "33105932" "33107460" "del" "0" "00006" "GLB1_000128" "g.33105932_33107460del" "" "{PMID:Fernandez-Marmiesse 2014:24767253}" "" "458-401_552+1033del1529" "" "Germline" "" "" "0" "" "" "g.33064440_33065968del" "" "pathogenic (recessive)" "" "0001012779" "1" "90" "3" "33110337" "33110337" "subst" "0" "00006" "GLB1_000130" "g.33110337G>C" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.33068845G>C" "" "pathogenic (recessive)" "" "0001012799" "2" "90" "3" "33055636" "33055636" "subst" "2.44439E-5" "00006" "GLB1_000007" "g.33055636G>A" "" "{PMID:Fang 2022:34813777}" "" "" "" "Germline" "" "" "0" "" "" "g.33014144G>A" "" "pathogenic (recessive)" "" "0001013859" "0" "90" "3" "33093471" "33093472" "inv" "0" "01943" "GLB1_000129" "g.33093471_33093472inv" "" "" "" "GLB1(NM_000404.3):c.817_818delTGinsCT (p.W273L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033901" "0" "50" "3" "33038574" "33038574" "subst" "8.12427E-6" "01804" "GLB1_000131" "g.33038574G>C" "" "" "" "GLB1(NM_000404.4):c.1997C>G (p.(Pro666Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033902" "0" "50" "3" "33038721" "33038721" "subst" "0" "01804" "GLB1_000132" "g.33038721G>C" "" "" "" "GLB1(NM_000404.4):c.1850C>G (p.(Thr617Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033903" "0" "50" "3" "33063053" "33063053" "subst" "0" "01804" "GLB1_000133" "g.33063053C>T" "" "" "" "GLB1(NM_000404.4):c.1233+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033904" "0" "30" "3" "33087608" "33087608" "subst" "0" "01804" "GLB1_000134" "g.33087608C>T" "" "" "" "GLB1(NM_000404.4):c.1068+4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033905" "0" "50" "3" "33109752" "33109752" "subst" "0" "01804" "GLB1_000135" "g.33109752C>T" "" "" "" "GLB1(NM_000404.4):c.427G>A (p.(Glu143Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033906" "0" "50" "3" "33118737" "33118737" "subst" "0.000385933" "01804" "GLB1_000136" "g.33118737C>A" "" "" "" "GLB1(NM_001317040.2):c.76-8G>T" "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 GLB1 ## Count = 253 "{{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}}" "0000000923" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000924" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000926" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000927" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000928" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000929" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000931" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000932" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000933" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000934" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000935" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000936" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000937" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000938" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000939" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000940" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000942" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000943" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000945" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000946" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000947" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000948" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000949" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000950" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000951" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000952" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000953" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000954" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000955" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000956" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000957" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000958" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000959" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000960" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000961" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000962" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000963" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000964" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000965" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000966" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000967" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000968" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000969" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000970" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000971" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000972" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000973" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000974" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000975" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000976" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000977" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000978" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000979" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000980" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000981" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000982" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000983" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000984" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000985" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000986" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000987" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000988" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000989" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000990" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000000991" "00000171" "50" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000002325" "00000171" "50" "76" "-4971" "76" "-4971" "c.76-4971dup" "r.(=)" "p.(=)" "" "0000002326" "00000171" "50" "76" "-5137" "76" "-5137" "c.76-5137dup" "r.(=)" "p.(=)" "" "0000003837" "00000171" "50" "76" "-4841" "76" "-4841" "c.76-4841T>A" "r.(=)" "p.(=)" "" "0000010369" "00000171" "50" "76" "-4971" "76" "-4971" "c.76-4971dup" "r.(=)" "p.(=)" "" "0000011819" "00000171" "50" "76" "-4841" "76" "-4841" "c.76-4841T>A" "r.(=)" "p.(=)" "" "0000011820" "00000171" "50" "76" "-5388" "76" "-5388" "c.76-5388A>G" "r.(=)" "p.(=)" "" "0000240206" "00000171" "90" "808" "0" "808" "0" "c.808T>G" "r.(?)" "p.(Tyr270Asp)" "" "0000240207" "00000171" "90" "699" "0" "699" "0" "c.699del" "r.(?)" "p.(Gln234Argfs*20)" "" "0000247945" "00000171" "10" "34" "0" "34" "0" "c.34T>C" "r.(?)" "p.(Leu12=)" "" "0000248209" "00000171" "10" "1561" "0" "1561" "0" "c.1561=" "r.(=)" "p.(Arg521=)" "" "0000250912" "00000171" "10" "1561" "0" "1561" "0" "c.1561=" "r.(=)" "p.(Arg521=)" "" "0000253206" "00000171" "10" "34" "0" "34" "0" "c.34T>C" "r.(?)" "p.(Leu12=)" "" "0000253774" "00000171" "10" "1233" "8" "1233" "8" "c.1233+8T>C" "r.(=)" "p.(=)" "" "0000281053" "00000171" "90" "1321" "0" "1321" "0" "c.1321G>A" "r.(?)" "p.(Asp441Asn)" "" "0000281054" "00000171" "10" "1594" "0" "1594" "0" "c.1594A>G" "r.(?)" "p.(Ser532Gly)" "" "0000281055" "00000171" "90" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" "" "0000281056" "00000171" "10" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000281057" "00000171" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201His)" "" "0000281058" "00000171" "30" "717" "0" "717" "0" "c.717G>A" "r.(?)" "p.(Thr239=)" "" "0000281059" "00000171" "10" "76" "-4426" "76" "-4426" "c.76-4426C>T" "r.(=)" "p.(=)" "" "0000284660" "00000171" "10" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Leu436Phe)" "" "0000284661" "00000171" "10" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "0000288392" "00000171" "30" "1530" "0" "1530" "0" "c.1530G>A" "r.(?)" "p.(Thr510=)" "" "0000288393" "00000171" "30" "1426" "0" "1426" "0" "c.1426C>T" "r.(?)" "p.(Leu476=)" "" "0000288394" "00000171" "30" "1572" "0" "1572" "0" "c.1572G>C" "r.(?)" "p.(Leu524=)" "" "0000288395" "00000171" "10" "1594" "0" "1594" "0" "c.1594A>G" "r.(?)" "p.(Ser532Gly)" "" "0000288397" "00000171" "90" "245" "1" "245" "1" "c.245+1G>A" "r.spl?" "p.?" "" "0000288398" "00000171" "10" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000288399" "00000171" "90" "438" "0" "440" "0" "c.438_440del" "r.(?)" "p.(Leu147del)" "" "0000288400" "00000171" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Cys)" "" "0000288402" "00000171" "90" "787" "0" "787" "0" "c.787C>T" "r.(?)" "p.(Pro263Ser)" "" "0000329301" "00000171" "30" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Leu436Phe)" "" "0000337795" "00000171" "10" "1233" "8" "1233" "8" "c.1233+8T>C" "r.(=)" "p.(=)" "" "0000337796" "00000171" "10" "458" "-11" "458" "-11" "c.458-11T>C" "r.(=)" "p.(=)" "" "0000339887" "00000171" "10" "34" "0" "34" "0" "c.34T>C" "r.(?)" "p.(Leu12=)" "" "0000342193" "00000171" "90" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Cys)" "" "0000342973" "00000171" "50" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Arg482His)" "" "0000343156" "00000171" "90" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" "" "0000344415" "00000171" "10" "1561" "0" "1561" "0" "c.1561=" "r.(=)" "p.(Arg521=)" "" "0000346438" "00000171" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(His281Tyr)" "" "0000346989" "00000171" "50" "632" "0" "632" "0" "c.632T>G" "r.(?)" "p.(Leu211Arg)" "" "0000348132" "00000171" "10" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000350018" "00000171" "50" "809" "0" "809" "0" "c.809A>G" "r.(?)" "p.(Tyr270Cys)" "" "0000499627" "00000171" "95" "75" "2" "75" "2" "c.75+2dup" "r.spl?" "p.?" "1i" "0000499628" "00000171" "95" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Cys)" "2" "0000499629" "00000171" "95" "152" "0" "152" "0" "c.152T>C" "r.(?)" "p.(Ile51Thr)" "2" "0000499630" "00000171" "95" "161" "0" "161" "0" "c.161G>T" "r.(?)" "p.(Ser54Ile)" "2" "0000499631" "00000171" "95" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Arg59Cys)" "2" "0000499632" "00000171" "95" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" "2" "0000499633" "00000171" "95" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" "2" "0000499634" "00000171" "95" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" "2" "0000499635" "00000171" "95" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Thr82Met)" "2" "0000499636" "00000171" "95" "276" "0" "276" "0" "c.276dup" "r.(?)" "p.(Pro93Alafs*8)" "3" "0000499637" "00000171" "95" "276" "0" "276" "0" "c.276G>A" "r.(?)" "p.(Trp92*)" "3" "0000499638" "00000171" "95" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Glu131Lys)" "3" "0000499639" "00000171" "95" "428" "0" "428" "0" "c.428dup" "r.(?)" "p.(Ser144Valfs*43)" "4" "0000499640" "00000171" "95" "438" "0" "440" "0" "c.438_440del" "r.(?)" "p.(Leu147del)" "4" "0000499641" "00000171" "95" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Cys)" "4" "0000499642" "00000171" "95" "542" "0" "542" "0" "c.542T>A" "r.(?)" "p.(Ile181Lys)" "5" "0000499643" "00000171" "95" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Gly190Asp)" "6" "0000499644" "00000171" "95" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Gly190Asp)" "6" "0000499645" "00000171" "95" "569" "0" "569" "0" "c.569G>A" "r.(?)" "p.(Gly190Asp)" "6" "0000499646" "00000171" "95" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Cys)" "6" "0000499647" "00000171" "95" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Cys)" "6" "0000499648" "00000171" "95" "601" "0" "601" "0" "c.601C>T" "r.(?)" "p.(Arg201Cys)" "6" "0000499649" "00000171" "95" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201His)" "6" "0000499650" "00000171" "95" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201His)" "6" "0000499651" "00000171" "95" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Cys)" "6" "0000499652" "00000171" "95" "808" "0" "808" "0" "c.808T>G" "r.(?)" "p.(Tyr270Asp)" "8" "0000499653" "00000171" "95" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(His281Tyr)" "8" "0000499654" "00000171" "95" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Tyr316Cys)" "9" "0000499655" "00000171" "95" "996" "0" "996" "0" "c.996C>G" "r.(?)" "p.(Asp332Glu)" "10" "0000499656" "00000171" "95" "1259" "0" "1259" "0" "c.1259C>A" "r.(?)" "p.(Thr420Lys)" "13" "0000499657" "00000171" "95" "1343" "0" "1343" "0" "c.1343A>T" "r.(?)" "p.(Asp448Val)" "13" "0000499658" "00000171" "95" "1438" "0" "1438" "0" "c.1438A>G" "r.(?)" "p.(Met480Val)" "14" "0000499659" "00000171" "95" "1441" "0" "1441" "0" "c.1441G>T" "r.(?)" "p.(Gly481*)" "14" "0000499660" "00000171" "95" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Arg482His)" "14" "0000499661" "00000171" "95" "1445" "0" "1445" "0" "c.1445G>A" "r.(?)" "p.(Arg482His)" "14" "0000499662" "00000171" "95" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Pro549Leu)" "15" "0000499663" "00000171" "95" "1746" "0" "1746" "0" "c.1746G>A" "r.(?)" "p.(Trp582*)" "16" "0000499664" "00000171" "95" "1820" "0" "1820" "0" "c.1820T>C" "r.(?)" "p.(Ile607Thr)" "16" "0000519021" "00000171" "30" "1735" "-5" "1735" "-4" "c.1735-5_1735-4dup" "r.spl?" "p.?" "" "0000519022" "00000171" "70" "1733" "0" "1733" "0" "c.1733A>G" "r.(?)" "p.(Lys578Arg)" "" "0000519023" "00000171" "30" "1679" "0" "1679" "0" "c.1679G>A" "r.(?)" "p.(Ser560Asn)" "" "0000519024" "00000171" "30" "1675" "0" "1675" "0" "c.1675C>T" "r.(?)" "p.(Pro559Ser)" "" "0000519025" "00000171" "30" "1594" "0" "1594" "0" "c.1594A>G" "r.(?)" "p.(Ser532Gly)" "" "0000519026" "00000171" "90" "1348" "-1" "1348" "-1" "c.1348-1G>C" "r.spl?" "p.?" "" "0000519027" "00000171" "50" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Pro429Ser)" "" "0000519028" "00000171" "30" "1095" "0" "1095" "0" "c.1095C>T" "r.(?)" "p.(Ile365=)" "" "0000519029" "00000171" "30" "1032" "0" "1032" "0" "c.1032T>C" "r.(?)" "p.(Thr344=)" "" "0000519030" "00000171" "30" "792" "10" "792" "10" "c.792+10G>A" "r.(=)" "p.(=)" "" "0000519031" "00000171" "30" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Arg208His)" "" "0000519032" "00000171" "30" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Arg208His)" "" "0000519033" "00000171" "10" "458" "-11" "458" "-11" "c.458-11T>C" "r.(=)" "p.(=)" "" "0000519034" "00000171" "90" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Cys)" "" "0000519035" "00000171" "90" "442" "0" "442" "0" "c.442C>A" "r.(?)" "p.(Arg148Ser)" "" "0000519036" "00000171" "70" "245" "0" "245" "0" "c.245C>T" "r.(?)" "p.(Thr82Met)" "" "0000519037" "00000171" "50" "235" "0" "235" "0" "c.235G>A" "r.(?)" "p.(Ala79Thr)" "" "0000519038" "00000171" "30" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Lys73Arg)" "" "0000519039" "00000171" "50" "206" "0" "206" "0" "c.206T>C" "r.(?)" "p.(Leu69Pro)" "" "0000519040" "00000171" "90" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Arg59Cys)" "" "0000519041" "00000171" "90" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Arg59Cys)" "" "0000519042" "00000171" "50" "146" "0" "146" "0" "c.146G>A" "r.(?)" "p.(Arg49His)" "" "0000519043" "00000171" "50" "76" "-4391" "76" "-4391" "c.76-4391G>A" "r.(=)" "p.(=)" "" "0000519044" "00000171" "70" "75" "2" "75" "2" "c.75+2dup" "r.spl?" "p.?" "" "0000519045" "00000171" "30" "8" "0" "8" "0" "c.8G>T" "r.(?)" "p.(Gly3Val)" "" "0000519046" "00000171" "50" "8" "0" "8" "0" "c.8G>T" "r.(?)" "p.(Gly3Val)" "" "0000595815" "00000171" "90" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Cys)" "" "0000595816" "00000171" "70" "481" "0" "481" "0" "c.481T>G" "r.(?)" "p.(Trp161Gly)" "" "0000608494" "00000171" "30" "1644" "0" "1644" "0" "c.1644C>G" "r.(?)" "p.(Leu548=)" "" "0000608495" "00000171" "10" "1594" "0" "1594" "0" "c.1594A>G" "r.(?)" "p.(Ser532Gly)" "" "0000608496" "00000171" "50" "424" "0" "424" "0" "c.424A>G" "r.(?)" "p.(Lys142Glu)" "" "0000608497" "00000171" "30" "76" "-4537" "76" "-4537" "c.76-4537T>C" "r.(=)" "p.(=)" "" "0000621242" "00000171" "50" "1052" "0" "1052" "0" "c.1052G>A" "r.(?)" "p.(Arg351Gln)" "" "0000651175" "00000171" "50" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590His)" "" "0000651176" "00000171" "30" "1310" "0" "1310" "0" "c.1310A>G" "r.(?)" "p.(Asn437Ser)" "" "0000651177" "00000171" "30" "1306" "0" "1306" "0" "c.1306C>T" "r.(?)" "p.(Leu436Phe)" "" "0000651178" "00000171" "90" "818" "0" "818" "0" "c.818G>T" "r.(?)" "p.(Trp273Leu)" "" "0000651179" "00000171" "30" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "0000651180" "00000171" "50" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Arg68Gln)" "" "0000654875" "00000171" "70" "1746" "0" "1746" "0" "c.1746G>T" "r.(?)" "p.(Trp582Cys)" "" "0000674669" "00000171" "50" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Asp342Asn)" "10" "0000674670" "00000171" "50" "716" "0" "716" "0" "c.716C>T" "r.(?)" "p.(Thr239Met)" "6" "0000674671" "00000171" "50" "1430" "0" "1430" "0" "c.1430T>G" "r.(?)" "p.(Val477Gly)" "14" "0000674672" "00000171" "50" "1901" "0" "1901" "0" "c.1901G>A" "r.(?)" "p.(Cys634Tyr)" "16" "0000674673" "00000171" "50" "1454" "0" "1454" "0" "c.1454A>C" "r.(?)" "p.(Tyr485Ser)" "14" "0000674674" "00000171" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Cys)" "6" "0000674804" "00000171" "70" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Gly486Ser)" "14" "0000674890" "00000171" "70" "149" "0" "149" "0" "c.149A>G" "r.(?)" "p.(Tyr50Cys)" "2" "0000674891" "00000171" "50" "1733" "0" "1733" "0" "c.1733A>G" "r.(?)" "p.(Lys578Arg)" "15" "0000674892" "00000171" "50" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Gly526Asp)" "15" "0000674893" "00000171" "70" "1825" "0" "1828" "0" "c.1825_1828del" "r.(?)" "p.(Met609Profs*27)" "16" "0000674894" "00000171" "50" "75" "2" "75" "2" "c.75+2dup" "r.spl?" "p.?" "1" "0000674895" "00000171" "50" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Pro604Ser)" "16" "0000675025" "00000171" "50" "216" "0" "216" "0" "c.216G>A" "r.(?)" "p.(Met72Ile)" "2" "0000675027" "00000171" "50" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201His)" "6" "0000675144" "00000171" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.0?" "1" "0000675145" "00000171" "50" "323" "0" "323" "0" "c.323T>C" "r.(?)" "p.(Leu108Pro)" "3" "0000675146" "00000171" "50" "817" "0" "818" "0" "c.817_818delinsCT" "r.(?)" "p.(Trp273Leu)" "8" "0000675147" "00000171" "70" "245" "1" "245" "1" "c.245+1G>A" "r.spl" "p.?" "2" "0000675148" "00000171" "50" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Leu147Phe)" "4" "0000675151" "00000171" "70" "485" "0" "485" "0" "c.485del" "r.(?)" "p.(Leu162Trpfs*8)" "5" "0000683123" "00000171" "50" "623" "0" "623" "0" "c.623G>C" "r.(?)" "p.(Arg208Pro)" "6" "0000683124" "00000171" "50" "829" "0" "829" "0" "c.829T>C" "r.(?)" "p.(Trp277Arg)" "8" "0000683125" "00000171" "50" "622" "0" "622" "0" "c.622C>T" "r.(?)" "p.(Arg208Cys)" "6" "0000683126" "00000171" "50" "856" "0" "862" "0" "c.856_862del" "r.(?)" "p.(Thr286Glnfs*16)" "8" "0000683127" "00000171" "50" "175" "0" "175" "0" "c.175C>T" "r.(?)" "p.(Arg59Cys)" "2" "0000719349" "00000171" "30" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Arg530Cys)" "" "0000785862" "00000171" "90" "520" "0" "520" "0" "c.520T>C" "r.(?)" "p.(Tyr174His)" "1" "0000786875" "00000171" "90" "145" "0" "145" "0" "c.145C>T" "r.(?)" "p.(Arg49Cys)" "2" "0000787290" "00000171" "50" "899" "0" "899" "0" "c.899G>T" "r.(?)" "p.(Gly300Val)" "8" "0000787481" "00000171" "70" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442Gln)" "13" "0000801157" "00000171" "30" "31" "0" "31" "0" "c.31C>G" "r.(?)" "p.(Leu11Val)" "" "0000842683" "00000171" "70" "808" "0" "808" "0" "c.808T>G" "r.(?)" "p.(Tyr270Asp)" "" "0000842684" "00000171" "50" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Asp491Asn)" "" "0000873903" "00000171" "10" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000873914" "00000171" "10" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000873930" "00000171" "10" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Pro10Leu)" "" "0000911890" "00000171" "70" "1769" "0" "1769" "0" "c.1769G>A" "r.(?)" "p.(Arg590His)" "" "0000911891" "00000171" "10" "1233" "8" "1233" "8" "c.1233+8T>C" "r.(=)" "p.(=)" "" "0000911892" "00000171" "10" "793" "-19" "793" "-19" "c.793-19C>T" "r.(=)" "p.(=)" "" "0000911893" "00000171" "10" "458" "-11" "458" "-11" "c.458-11T>C" "r.(=)" "p.(=)" "" "0000923905" "00000171" "30" "1640" "0" "1640" "0" "c.1640C>T" "r.(?)" "p.(Thr547Met)" "" "0000923906" "00000171" "30" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109Trp)" "" "0000932928" "00000171" "90" "176" "0" "176" "0" "c.176G>A" "r.(?)" "p.(Arg59His)" "" "0000948115" "00000171" "30" "1310" "0" "1310" "0" "c.1310A>G" "r.(?)" "p.(Asn437Ser)" "" "0000975750" "00000171" "50" "1256" "0" "1256" "0" "c.1256G>A" "r.(?)" "p.(Arg419Gln)" "" "0000975751" "00000171" "50" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Ala340Thr)" "" "0000975752" "00000171" "50" "335" "0" "335" "0" "c.335A>G" "r.(?)" "p.(His112Arg)" "" "0000975753" "00000171" "50" "128" "0" "128" "0" "c.128A>G" "r.(?)" "p.(Lys43Arg)" "" "0000975754" "00000171" "50" "76" "-4436" "76" "-4435" "c.76-4436_76-4435insAA" "r.(=)" "p.(=)" "" "0000975755" "00000171" "50" "76" "-4438" "76" "-4437" "c.76-4438_76-4437insAAAGAGGTA" "r.(=)" "p.(=)" "" "0000993580" "00000171" "50" "1667" "0" "1667" "0" "c.1667T>C" "r.(?)" "p.(Phe556Ser)" "" "0001012393" "00000171" "90" "922" "0" "922" "0" "c.922T>C" "r.(?)" "p.(Phe308Leu)" "" "0001012396" "00000171" "90" "602" "0" "602" "0" "c.602G>A" "r.(?)" "p.(Arg201His)" "" "0001012401" "00000171" "90" "672" "0" "673" "0" "c.672_673del" "r.(?)" "p.(His224GlnfsTer35)" "" "0001012406" "00000171" "90" "947" "0" "947" "0" "c.947A>G" "r.(?)" "p.(Tyr316Cys)" "" "0001012437" "00000171" "90" "1188" "0" "1188" "0" "c.1188dup" "r.(?)" "p.(Pro397AlafsTer60)" "" "0001012442" "00000171" "90" "458" "-401" "552" "1033" "c.458-401_552+1033del" "r.?" "p.?" "" "0001012779" "00000171" "90" "371" "0" "371" "0" "c.371C>G" "p.(Arg124Arg)" "p.(Pro124Arg)" "3" "0001012799" "00000171" "90" "1646" "0" "1646" "0" "c.1646C>T" "r.(?)" "p.(Pro549Leu)" "15" "0001013859" "00000171" "90" "817" "0" "818" "0" "c.817_818inv" "r.(?)" "p.(Trp273Gln)" "" "0001033901" "00000171" "50" "1997" "0" "1997" "0" "c.1997C>G" "r.(?)" "p.(Pro666Arg)" "" "0001033902" "00000171" "50" "1850" "0" "1850" "0" "c.1850C>G" "r.(?)" "p.(Thr617Ser)" "" "0001033903" "00000171" "50" "1233" "5" "1233" "5" "c.1233+5G>A" "r.spl?" "p.?" "" "0001033904" "00000171" "30" "1068" "4" "1068" "4" "c.1068+4G>A" "r.spl?" "p.?" "" "0001033905" "00000171" "50" "427" "0" "427" "0" "c.427G>A" "r.(?)" "p.(Glu143Lys)" "" "0001033906" "00000171" "50" "76" "-4532" "76" "-4532" "c.76-4532G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 162 "{{screeningid}}" "{{variantid}}" "0000000005" "0000000964" "0000000009" "0000000986" "0000000011" "0000000943" "0000000014" "0000000937" "0000000015" "0000000946" "0000000016" "0000000959" "0000000017" "0000000990" "0000000018" "0000000991" "0000000020" "0000000967" "0000000021" "0000000938" "0000000022" "0000000970" "0000000023" "0000000973" "0000000025" "0000000950" "0000000026" "0000000974" "0000000028" "0000000988" "0000000031" "0000000927" "0000000034" "0000000932" "0000000035" "0000000936" "0000000036" "0000000940" "0000000038" "0000000958" "0000000039" "0000000961" "0000000040" "0000000966" "0000000042" "0000000971" "0000000044" "0000000975" "0000000046" "0000000980" "0000000048" "0000000926" "0000000049" "0000000929" "0000000050" "0000000934" "0000000051" "0000000963" "0000000053" "0000000978" "0000000054" "0000000947" "0000000055" "0000000951" "0000000056" "0000000981" "0000000059" "0000000953" "0000000060" "0000000924" "0000000061" "0000000962" "0000000062" "0000000987" "0000000063" "0000000933" "0000000064" "0000000939" "0000000065" "0000000989" "0000000067" "0000000923" "0000000069" "0000000954" "0000000072" "0000000972" "0000000073" "0000000976" "0000000074" "0000000979" "0000000076" "0000000984" "0000000077" "0000000955" "0000000078" "0000000969" "0000000081" "0000000948" "0000000082" "0000000935" "0000000084" "0000000960" "0000000086" "0000000949" "0000000087" "0000000956" "0000000088" "0000000957" "0000000089" "0000000965" "0000000090" "0000000968" "0000000092" "0000000983" "0000000093" "0000000931" "0000000094" "0000000945" "0000000095" "0000000982" "0000000096" "0000000952" "0000000097" "0000000928" "0000000098" "0000000942" "0000000101" "0000000977" "0000000107" "0000000985" "0000000209" "0000002325" "0000000209" "0000002326" "0000000209" "0000003837" "0000000210" "0000010369" "0000000210" "0000011819" "0000000210" "0000011820" "0000147411" "0000240206" "0000147411" "0000240207" "0000246831" "0000499641" "0000246832" "0000499636" "0000246833" "0000499630" "0000246834" "0000499640" "0000246835" "0000499653" "0000246836" "0000499639" "0000246837" "0000499627" "0000246838" "0000499628" "0000246838" "0000499638" "0000246839" "0000499629" "0000246839" "0000499654" "0000246840" "0000499631" "0000246840" "0000499635" "0000246841" "0000499632" "0000246841" "0000499655" "0000246842" "0000499633" "0000246842" "0000499664" "0000246843" "0000499634" "0000246844" "0000499637" "0000246845" "0000499642" "0000246846" "0000499643" "0000246847" "0000499644" "0000246848" "0000499645" "0000246849" "0000499646" "0000246849" "0000499649" "0000246850" "0000499647" "0000246850" "0000499656" "0000246851" "0000499648" "0000246851" "0000499652" "0000246852" "0000499650" "0000246852" "0000499659" "0000246853" "0000499651" "0000246854" "0000499657" "0000246854" "0000499663" "0000246855" "0000499658" "0000246855" "0000499660" "0000246856" "0000499661" "0000246856" "0000499662" "0000265227" "0000595815" "0000265227" "0000595816" "0000294486" "0000651175" "0000294487" "0000651176" "0000294488" "0000651177" "0000294489" "0000651178" "0000294490" "0000651179" "0000294491" "0000651180" "0000307860" "0000674669" "0000307860" "0000674670" "0000307861" "0000674671" "0000307861" "0000674672" "0000307862" "0000674673" "0000307862" "0000674674" "0000307986" "0000674804" "0000308050" "0000674890" "0000308050" "0000674891" "0000308051" "0000674892" "0000308052" "0000674893" "0000308053" "0000674894" "0000308053" "0000674895" "0000308178" "0000675025" "0000308178" "0000675027" "0000308249" "0000675144" "0000308250" "0000675145" "0000308250" "0000675146" "0000308251" "0000675147" "0000308251" "0000675148" "0000308254" "0000675151" "0000308713" "0000683123" "0000308714" "0000683124" "0000308714" "0000683125" "0000308715" "0000683126" "0000308715" "0000683127" "0000374950" "0000785862" "0000375524" "0000786875" "0000375524" "0000787481" "0000375939" "0000787290" "0000406361" "0000842683" "0000406361" "0000842684" "0000415985" "0000873903" "0000415986" "0000873914" "0000415987" "0000873930" "0000457846" "0001012393" "0000457849" "0001012396" "0000457849" "0001012437" "0000457854" "0001012401" "0000457859" "0001012406" "0000457859" "0001012442" "0000458170" "0001012779" "0000458170" "0001012799"