### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = VPS33B) # 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}}" "VPS33B" "vacuolar protein sorting 33 homolog B (yeast)" "15" "q26.1" "unknown" "NG_012162.1" "UD_132084415002" "" "https://www.LOVD.nl/VPS33B" "" "1" "12712" "26276" "608552" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/VPS33B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-11-29 15:28:13" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00022646" "VPS33B" "vacuolar protein sorting 33 homolog B (yeast)" "001" "NM_018668.3" "" "NP_061138.3" "" "" "" "-354" "2285" "1854" "91565833" "91541774" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00014" "SCP" "palsy, cerebral, spastic (SCP)" "" "" "" "" "" "00006" "2012-07-12 11:37:07" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01665" "ARCS1" "arthrogryposis, renal dysfunction, cholestasis, type 1 (ARCS-1)" "AR" "208085" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03327" "ARCS2" "arthrogryposis, renal dysfunction, and cholestasis 2 (ARCS-2)" "AR" "613404" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "VPS33B" "01665" ## Individuals ## Do not remove or alter this header ## ## Count = 67 "{{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}}" "00000010" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000056" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000057" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000161" "" "" "" "45" "" "00014" "{PMID:Hollegaard 2013:22837141}" "association study, analysis 197 cases" "" "" "Denmark" "" "0" "" "" "" "Cases" "00269420" "" "" "" "1" "" "03506" "" "" "F" "no" "Greece" "00y03m" "0" "" "" "" "" "00288900" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Hispanic" "" "00288901" "" "" "" "1" "" "03401" "" "Milder phenotype" "" "" "" "" "0" "" "" "South American" "" "00288902" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "" "" "00288903" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288904" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "" "" "00288905" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "French" "" "00288906" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Italian" "" "00288907" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Turkish" "" "00288908" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288909" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288910" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288911" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "" "" "00288912" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Native South American" "" "00288913" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "" "" "00288914" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Scottish" "" "00288915" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Arab (Saudi Arabia)" "" "00288916" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Turkish" "" "00288917" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Arab (Israel)" "" "00288918" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288919" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288920" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288921" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288922" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288923" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288924" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288925" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288926" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288927" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288928" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288929" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Swedish" "" "00288930" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Italian" "" "00288931" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Arab (Saudi Arabia)" "" "00288932" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Druze (Israel)" "" "00288933" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288934" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Korean" "" "00288935" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Turkish" "" "00288936" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Portuguese" "" "00288937" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "French" "" "00288938" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "" "" "00288939" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "" "" "00288940" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288941" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Arab (Saudi Arabia)" "" "00288942" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Tahitian" "" "00288943" "" "" "" "1" "" "03401" "" "Milder phenotype" "" "" "" "" "0" "" "" "South American" "" "00288944" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Polish" "" "00288945" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Polish" "" "00288946" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288947" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288948" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288949" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288950" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288951" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288952" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288953" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Arab (Saudi Arabia)" "" "00288954" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Turkish" "" "00288955" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Hispanic" "" "00288956" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Portuguese" "" "00288957" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Portuguese" "" "00288958" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Polish" "" "00288959" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Pakistani" "" "00288960" "" "" "" "1" "" "03401" "" "" "" "" "" "" "0" "" "" "Italian" "" "00291347" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 64 "{{individualid}}" "{{diseaseid}}" "00000161" "00014" "00269420" "01665" "00288900" "03327" "00288901" "03327" "00288902" "03327" "00288903" "03327" "00288904" "03327" "00288905" "03327" "00288906" "03327" "00288907" "03327" "00288908" "03327" "00288909" "03327" "00288910" "03327" "00288911" "03327" "00288912" "03327" "00288913" "03327" "00288914" "03327" "00288915" "03327" "00288916" "03327" "00288917" "03327" "00288918" "03327" "00288919" "03327" "00288920" "03327" "00288921" "03327" "00288922" "03327" "00288923" "03327" "00288924" "03327" "00288925" "03327" "00288926" "03327" "00288927" "03327" "00288928" "03327" "00288929" "03327" "00288930" "03327" "00288931" "03327" "00288932" "03327" "00288933" "03327" "00288934" "03327" "00288935" "03327" "00288936" "03327" "00288937" "03327" "00288938" "03327" "00288939" "03327" "00288940" "03327" "00288941" "03327" "00288942" "03327" "00288943" "03327" "00288944" "03327" "00288945" "03327" "00288946" "03327" "00288947" "03327" "00288948" "03327" "00288949" "03327" "00288950" "03327" "00288951" "03327" "00288952" "03327" "00288953" "03327" "00288954" "03327" "00288955" "03327" "00288956" "03327" "00288957" "03327" "00288958" "03327" "00288959" "03327" "00288960" "03327" "00291347" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00014, 00198, 01665, 03327 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 67 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000010" "00000010" "1" "00004" "" "2012-05-11 13:18:38" "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" "" "" "0000000057" "00000057" "1" "00004" "" "2012-05-11 13:18:52" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000150" "00000161" "1" "00014" "00008" "2012-07-11 16:40:24" "00006" "2019-10-27 12:50:02" "arraySNP" "DNA" "" "" "0000270564" "00269420" "1" "03506" "03506" "2019-11-25 19:38:39" "" "" "SEQ-NG" "DNA" "" "WES" "0000290068" "00288900" "1" "03401" "03401" "2011-11-23 14:52:41" "" "" "?" "?" "" "" "0000290069" "00288901" "1" "03401" "03401" "2011-10-21 13:20:36" "" "" "SEQ" "DNA" "" "" "0000290070" "00288902" "1" "03401" "03401" "2011-10-14 16:51:45" "" "" "?" "?" "" "" "0000290071" "00288903" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 14:51:31" "?" "?" "" "" "0000290072" "00288904" "1" "03401" "03401" "2011-10-14 16:54:15" "" "" "?" "?" "" "" "0000290073" "00288905" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:10:30" "?" "?" "" "" "0000290074" "00288906" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:04:40" "?" "?" "" "" "0000290075" "00288907" "1" "03401" "03401" "2011-10-21 11:02:39" "" "" "?" "?" "" "" "0000290076" "00288908" "1" "03401" "03401" "2011-10-14 16:57:34" "03401" "2011-10-17 15:47:26" "?" "?" "" "" "0000290077" "00288909" "1" "03401" "03401" "2011-10-14 16:58:30" "03401" "2011-10-17 15:47:45" "?" "?" "" "" "0000290078" "00288910" "1" "03401" "03401" "2011-10-14 16:59:11" "03401" "2011-10-17 15:47:56" "?" "?" "" "" "0000290079" "00288911" "1" "03401" "03401" "2011-11-23 11:25:16" "" "" "SEQ" "DNA" "" "" "0000290080" "00288912" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:13:03" "?" "?" "" "" "0000290081" "00288913" "1" "03401" "03401" "2011-10-14 17:00:17" "" "" "?" "?" "" "" "0000290082" "00288914" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:00:18" "?" "?" "" "" "0000290083" "00288915" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:09:44" "?" "?" "" "" "0000290084" "00288916" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:38:18" "?" "?" "" "" "0000290085" "00288917" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:06:49" "?" "?" "" "" "0000290086" "00288918" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:21:18" "?" "?" "" "" "0000290087" "00288919" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:33:20" "?" "?" "" "" "0000290088" "00288920" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:29:57" "?" "?" "" "" "0000290089" "00288921" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:28:38" "?" "?" "" "" "0000290090" "00288922" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:33:54" "?" "?" "" "" "0000290091" "00288923" "1" "03401" "03401" "2011-10-12 11:26:36" "03401" "2011-10-17 15:19:59" "?" "?" "" "" "0000290092" "00288924" "1" "03401" "03401" "2011-10-12 12:21:23" "03401" "2011-10-17 15:21:07" "?" "?" "" "" "0000290093" "00288925" "1" "03401" "03401" "2011-10-12 12:56:34" "03401" "2011-10-17 15:21:28" "?" "?" "" "" "0000290094" "00288926" "1" "03401" "03401" "2011-10-12 13:34:43" "03401" "2011-10-17 15:33:44" "?" "?" "" "" "0000290095" "00288927" "1" "03401" "03401" "2011-10-12 13:35:43" "03401" "2011-10-17 15:33:35" "?" "?" "" "" "0000290096" "00288928" "1" "03401" "03401" "2011-10-13 12:57:46" "03401" "2011-10-17 15:30:31" "?" "?" "" "" "0000290097" "00288929" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:08:14" "?" "?" "" "" "0000290098" "00288930" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:03:22" "?" "?" "" "" "0000290099" "00288931" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:23:30" "?" "?" "" "" "0000290100" "00288932" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:41:53" "?" "?" "" "" "0000290101" "00288933" "1" "03401" "03401" "2011-10-14 17:03:54" "03401" "2011-10-17 15:50:00" "?" "?" "" "" "0000290102" "00288934" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:29:19" "?" "?" "" "" "0000290103" "00288935" "1" "03401" "03401" "2011-10-14 17:05:15" "03401" "2011-11-23 12:16:13" "?" "?" "" "" "0000290104" "00288936" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 14:56:11" "?" "?" "" "" "0000290105" "00288937" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:05:53" "?" "?" "" "" "0000290106" "00288938" "1" "03401" "03401" "2011-10-14 17:13:29" "" "" "?" "?" "" "" "0000290107" "00288939" "1" "03401" "03401" "2011-10-14 17:14:41" "" "" "?" "?" "" "" "0000290108" "00288940" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:26:10" "?" "?" "" "" "0000290109" "00288941" "1" "03401" "03401" "2011-10-17 11:06:05" "03401" "2011-10-17 15:51:39" "?" "?" "" "" "0000290110" "00288942" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:11:20" "?" "?" "" "" "0000290111" "00288943" "1" "03401" "03401" "2011-10-20 12:19:58" "03401" "2011-10-20 12:20:49" "?" "?" "" "" "0000290112" "00288944" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:35:29" "?" "?" "" "" "0000290113" "00288945" "1" "03401" "03401" "2011-10-18 11:10:33" "" "" "?" "?" "" "" "0000290114" "00288946" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 14:47:22" "?" "?" "" "" "0000290115" "00288947" "1" "03401" "03401" "2011-10-12 15:15:14" "03401" "2011-10-17 14:48:55" "?" "?" "" "" "0000290116" "00288948" "1" "03401" "03401" "2011-10-12 15:16:13" "03401" "2011-10-17 14:49:13" "?" "?" "" "" "0000290117" "00288949" "1" "03401" "03401" "2011-10-12 15:17:12" "03401" "2011-10-17 14:49:31" "?" "?" "" "" "0000290118" "00288950" "1" "03401" "03401" "2011-10-12 15:18:10" "03401" "2011-10-17 14:49:50" "?" "?" "" "" "0000290119" "00288951" "1" "03401" "03401" "2011-10-12 15:18:59" "03401" "2011-10-17 14:50:09" "?" "?" "" "" "0000290120" "00288952" "1" "03401" "03401" "2011-10-12 15:19:43" "03401" "2011-10-17 14:50:26" "?" "?" "" "" "0000290121" "00288953" "1" "03401" "03401" "2011-10-13 11:15:27" "03401" "2011-10-17 15:07:32" "?" "?" "" "" "0000290122" "00288954" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:08:52" "?" "?" "" "" "0000290123" "00288955" "1" "03401" "03401" "2011-10-17 11:08:22" "03401" "2011-10-17 15:53:01" "?" "?" "" "" "0000290124" "00288956" "1" "03401" "03401" "2011-10-13 11:25:49" "03401" "2011-10-17 15:44:42" "?" "?" "" "" "0000290125" "00288957" "1" "03401" "03401" "2011-10-13 16:25:20" "03401" "2011-10-17 15:24:26" "?" "?" "" "" "0000290126" "00288958" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 15:36:01" "?" "?" "" "" "0000290127" "00288959" "1" "03401" "03401" "2011-08-22 11:16:39" "03401" "2011-10-17 14:45:45" "?" "?" "" "" "0000290128" "00288960" "1" "03401" "03401" "2011-11-23 11:33:38" "" "" "SEQ" "DNA" "" "" "0000292515" "00291347" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 99 "{{screeningid}}" "{{geneid}}" "0000000010" "ACADM" "0000000010" "ATP7B" "0000000010" "BTD" "0000000010" "CLN3" "0000000010" "CPT1A" "0000000010" "DGUOK" "0000000010" "ERCC6" "0000000010" "ETFB" "0000000010" "NHLRC1" "0000000010" "PAH" "0000000056" "ACADL" "0000000056" "ADA" "0000000056" "ASPA" "0000000056" "ATP7B" "0000000056" "BTD" "0000000056" "CYP27A1" "0000000056" "DPYD" "0000000056" "ETFB" "0000000056" "GLB1" "0000000056" "HEXB" "0000000056" "IGHMBP2" "0000000056" "NPHS1" "0000000056" "SERPINA1" "0000000056" "SLC26A2" "0000000057" "ALDOB" "0000000057" "ATM" "0000000057" "ATP7B" "0000000057" "DPYD" "0000000057" "ERCC6" "0000000057" "ETFB" "0000000057" "GAA" "0000000057" "IGHMBP2" "0000000057" "LAMA2" "0000000057" "NHLRC1" "0000000057" "NPHS1" "0000000057" "SERPINA1" "0000000150" "IL8" "0000270564" "VPS33B" "0000290068" "VPS33B" "0000290069" "VPS33B" "0000290070" "VPS33B" "0000290071" "VPS33B" "0000290072" "VPS33B" "0000290073" "VPS33B" "0000290074" "VPS33B" "0000290075" "VPS33B" "0000290076" "VPS33B" "0000290077" "VPS33B" "0000290078" "VPS33B" "0000290079" "VPS33B" "0000290080" "VPS33B" "0000290081" "VPS33B" "0000290082" "VPS33B" "0000290083" "VPS33B" "0000290084" "VPS33B" "0000290085" "VPS33B" "0000290086" "VPS33B" "0000290087" "VPS33B" "0000290088" "VPS33B" "0000290089" "VPS33B" "0000290090" "VPS33B" "0000290091" "VPS33B" "0000290092" "VPS33B" "0000290093" "VPS33B" "0000290094" "VPS33B" "0000290095" "VPS33B" "0000290096" "VPS33B" "0000290097" "VPS33B" "0000290098" "VPS33B" "0000290099" "VPS33B" "0000290100" "VPS33B" "0000290101" "VPS33B" "0000290102" "VPS33B" "0000290103" "VPS33B" "0000290104" "VPS33B" "0000290105" "VPS33B" "0000290106" "VPS33B" "0000290107" "VPS33B" "0000290108" "VPS33B" "0000290109" "VPS33B" "0000290110" "VPS33B" "0000290111" "VPS33B" "0000290112" "VPS33B" "0000290113" "VPS33B" "0000290114" "VPS33B" "0000290115" "VPS33B" "0000290116" "VPS33B" "0000290117" "VPS33B" "0000290118" "VPS33B" "0000290119" "VPS33B" "0000290120" "VPS33B" "0000290121" "VPS33B" "0000290122" "VPS33B" "0000290123" "VPS33B" "0000290124" "VPS33B" "0000290125" "VPS33B" "0000290126" "VPS33B" "0000290127" "VPS33B" "0000290128" "VPS33B" ## 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 = 298 "{{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}}" "0000313033" "0" "10" "15" "91548601" "91548601" "subst" "0.186714" "02325" "VPS33B_000195" "g.91548601G>A" "" "" "" "VPS33B(NM_018668.5):c.1105+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91005371G>A" "" "benign" "" "0000313034" "0" "30" "15" "91561061" "91561061" "subst" "0.0849585" "02325" "VPS33B_000035" "g.91561061G>T" "" "" "" "VPS33B(NM_018668.4):c.151C>A (p.R51=), VPS33B(NM_018668.5):c.151C>A (p.R51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91017831G>T" "" "likely benign" "" "0000313035" "0" "10" "15" "91543761" "91543761" "subst" "0.562329" "02325" "VPS33B_000075" "g.91543761C>T" "" "" "" "VPS33B(NM_018668.5):c.1540G>A (p.G514S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91000531C>T" "" "benign" "" "0000313036" "0" "10" "15" "91557676" "91557677" "del" "0" "02325" "VPS33B_000239" "g.91557676_91557677del" "" "" "" "VPS33B(NM_018668.4):c.240-13_240-12delTT, VPS33B(NM_018668.5):c.240-13_240-12delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91014446_91014447del" "" "benign" "" "0000319743" "0" "70" "15" "91546352" "91546352" "subst" "2.84308E-5" "01943" "VPS33B_000237" "g.91546352G>C" "" "" "" "VPS33B(NM_018668.4):c.1235C>G (p.P412R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91003122G>C" "" "likely pathogenic" "" "0000319744" "0" "70" "15" "91546354" "91546354" "del" "0" "01943" "VPS33B_000236" "g.91546354del" "" "" "" "VPS33B(NM_018668.4):c.1236delC (p.K413Rfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91003124del" "" "likely pathogenic" "" "0000324325" "0" "50" "15" "91548280" "91548280" "subst" "0.000995239" "01804" "VPS33B_000238" "g.91548280C>T" "" "" "" "VPS33B(NM_018668.3):c.1170+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91005050C>T" "" "VUS" "" "0000338905" "0" "10" "15" "91565804" "91565804" "subst" "0" "02327" "VPS33B_000213" "g.91565804A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91022574A>G" "" "benign" "" "0000346134" "0" "10" "15" "91543761" "91543761" "subst" "0.562329" "02327" "VPS33B_000075" "g.91543761C>T" "" "" "" "VPS33B(NM_018668.5):c.1540G>A (p.G514S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91000531C>T" "" "benign" "" "0000351441" "0" "90" "15" "91544693" "91544693" "subst" "0" "02327" "VPS33B_000220" "g.91544693C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.91001463C>G" "" "pathogenic" "" "0000556256" "0" "30" "15" "91543009" "91543009" "subst" "0" "01804" "VPS33B_000240" "g.91543009C>G" "" "" "" "VPS33B(NM_018668.3):c.1672G>C (p.(Asp558His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90999779C>G" "" "likely benign" "" "0000556258" "0" "30" "15" "91545411" "91545411" "subst" "0.00127599" "01804" "VPS33B_000063" "g.91545411C>T" "" "" "" "VPS33B(NM_018668.3):c.1274G>A (p.(Ser425Asn)), VPS33B(NM_018668.4):c.1274G>A (p.S425N), VPS33B(NM_018668.5):c.1274G>A (p.S425N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91002181C>T" "" "likely benign" "" "0000556261" "0" "30" "15" "91557034" "91557034" "subst" "0.00206283" "01804" "VPS33B_000039" "g.91557034C>T" "" "" "" "VPS33B(NM_001289148.1):c.276G>A (p.(Lys92=)), VPS33B(NM_018668.4):c.357G>A (p.K119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91013804C>T" "" "likely benign" "" "0000556262" "0" "30" "15" "91557034" "91557034" "subst" "0.00206283" "02326" "VPS33B_000039" "g.91557034C>T" "" "" "" "VPS33B(NM_001289148.1):c.276G>A (p.(Lys92=)), VPS33B(NM_018668.4):c.357G>A (p.K119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91013804C>T" "" "likely benign" "" "0000556265" "0" "10" "15" "91557676" "91557677" "del" "0" "02326" "VPS33B_000239" "g.91557676_91557677del" "" "" "" "VPS33B(NM_018668.4):c.240-13_240-12delTT, VPS33B(NM_018668.5):c.240-13_240-12delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91014446_91014447del" "" "benign" "" "0000556267" "0" "30" "15" "91561076" "91561076" "subst" "0.000129943" "01804" "VPS33B_000242" "g.91561076T>A" "" "" "" "VPS33B(NM_018668.3):c.136A>T (p.(Met46Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91017846T>A" "" "likely benign" "" "0000556268" "0" "30" "15" "91561079" "91561079" "subst" "0.000129943" "01804" "VPS33B_000243" "g.91561079G>T" "" "" "" "VPS33B(NM_018668.3):c.133C>A (p.(Leu45Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.91017849G>T" "" "likely benign" "" "0000604331" "3" "70" "15" "91548616" "91548617" "del" "8.13392E-6" "03506" "VPS33B_000244" "g.91548616_91548617del" "" "" "" "1098_1099delTG" "" "Germline" "no" "" "0" "" "" "g.91005386_91005387del" "" "likely pathogenic" "" "0000646492" "0" "55" "15" "91567582" "91567582" "dup" "0" "03401" "VPS33B_000105" "g.91567582dup" "" "" "" "c.-354-u1749dup" "" "Unknown" "" "rs36039192" "0" "" "" "g.91024352dup" "" "VUS" "" "0000646493" "0" "55" "15" "91565804" "91565804" "subst" "0" "03401" "VPS33B_000213" "g.91565804A>G" "0.348" "" "" "" "" "Unknown" "" "rs11073967" "0" "" "" "g.91022574A>G" "" "VUS" "" "0000646494" "0" "55" "15" "91565486" "91565486" "subst" "0" "03401" "VPS33B_000212" "g.91565486G>A" "0.0053" "" "" "" "" "Unknown" "" "rs11542639" "0" "" "" "g.91022256G>A" "" "VUS" "" "0000646495" "0" "99" "15" "91541647" "91565833" "" "0" "03401" "VPS33B_000235" "g.(?_91541647)_(91565833_?)del" "" "" "" "c.(?_-354)_(*431+d127_?)del" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000646496" "0" "99" "15" "91557258" "91558241" "del" "0" "03401" "VPS33B_000232" "g.91557258_91558241del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91014028_91015011del" "" "pathogenic" "" "0000646497" "0" "55" "15" "91542080" "91542080" "subst" "0" "03401" "VPS33B_000211" "g.91542080G>A" "0.00918" "" "" "" "" "Unknown" "" "rs76401688" "0" "" "" "g.90998850G>A" "" "VUS" "" "0000646498" "0" "55" "15" "91541648" "91541648" "subst" "0" "03401" "VPS33B_000209" "g.91541648A>G" "0.0995" "" "" "c.*431+d126T>C" "" "Unknown" "" "rs12907381" "0" "" "" "g.90998418A>G" "" "VUS" "" "0000646499" "0" "55" "15" "91541583" "91541583" "dup" "0" "03401" "VPS33B_000107" "g.91541583dup" "" "" "" "c.*431+d193dup" "" "Unknown" "" "rs35383972" "0" "" "" "g.90998353dup" "" "VUS" "" "0000646500" "0" "55" "15" "91541735" "91541735" "subst" "0" "03401" "VPS33B_000210" "g.91541735A>T" "0.143" "" "" "c.*431+d39T>A" "" "Unknown" "" "rs876874" "0" "" "" "g.90998505A>T" "" "VUS" "" "0000646501" "0" "33" "15" "91565459" "91565459" "subst" "0" "03401" "VPS33B_000214" "g.91565459C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91022229C>T" "" "likely benign" "" "0000646502" "0" "99" "15" "91565413" "91565413" "subst" "0" "03401" "VPS33B_000221" "g.91565413G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91022183G>A" "" "pathogenic" "" "0000646503" "3" "99" "15" "91565391" "91565391" "subst" "0" "03401" "VPS33B_000001" "g.91565391A>G" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91022161A>G" "" "pathogenic" "" "0000646504" "0" "55" "15" "91564808" "91564808" "subst" "0" "03401" "VPS33B_000186" "g.91564808T>A" "0.106" "" "" "" "" "Unknown" "" "rs7177975" "0" "" "" "g.91021578T>A" "" "VUS" "" "0000646505" "0" "55" "15" "91564756" "91564756" "subst" "0" "03401" "VPS33B_000150" "g.91564756C>T" "0.205" "" "" "" "" "Unknown" "" "rs28478359" "0" "" "" "g.91021526C>T" "" "VUS" "" "0000646506" "0" "55" "15" "91564257" "91564257" "subst" "0" "03401" "VPS33B_000187" "g.91564257G>A" "" "" "" "" "" "Unknown" "" "rs7176746" "0" "" "" "g.91021027G>A" "" "VUS" "" "0000646507" "0" "55" "15" "91564068" "91564068" "subst" "0" "03401" "VPS33B_000205" "g.91564068G>A" "" "" "" "" "" "Unknown" "" "rs1867224" "0" "" "" "g.91020838G>A" "" "VUS" "" "0000646508" "0" "55" "15" "91563829" "91563829" "subst" "0" "03401" "VPS33B_000204" "g.91563829A>G" "0.342" "" "" "" "" "Unknown" "" "rs1867225" "0" "" "" "g.91020599A>G" "" "VUS" "" "0000646509" "0" "55" "15" "91563771" "91563771" "dup" "0" "03401" "VPS33B_000092" "g.91563771dup" "" "" "" "c.96+1612_96+1613insA" "" "Unknown" "" "rs57978676" "0" "" "" "g.91020541dup" "" "VUS" "" "0000646510" "0" "55" "15" "91563771" "91563771" "dup" "0" "03401" "VPS33B_000112" "g.91563771dup" "" "" "" "c.96+1614_96+1615insA" "" "Unknown" "" "rs34407460" "0" "" "" "g.91020541dup" "" "VUS" "" "0000646511" "0" "55" "15" "91563513" "91563513" "subst" "0" "03401" "VPS33B_000159" "g.91563513T>C" "0.337" "" "" "" "" "Unknown" "" "rs12595616" "0" "" "" "g.91020283T>C" "" "VUS" "" "0000646512" "0" "55" "15" "91563052" "91563052" "dup" "0" "03401" "VPS33B_000087" "g.91563052dup" "" "" "" "c.97-1938_97-1937insA" "" "Unknown" "" "rs60712254" "0" "" "" "g.91019822dup" "" "VUS" "" "0000646513" "0" "55" "15" "91563052" "91563052" "dup" "0" "03401" "VPS33B_000122" "g.91563052dup" "" "" "" "c.97-1933_97-1932insA" "" "Unknown" "" "rs5814457" "0" "" "" "g.91019822dup" "" "VUS" "" "0000646514" "0" "55" "15" "91563052" "91563052" "dup" "0" "03401" "VPS33B_000108" "g.91563052dup" "" "" "" "c.97-1925_97-1924insA" "" "Unknown" "" "rs34753911" "0" "" "" "g.91019822dup" "" "VUS" "" "0000646515" "0" "55" "15" "91562937" "91562937" "subst" "0" "03401" "VPS33B_000206" "g.91562937C>A" "0.176" "" "" "" "" "Unknown" "" "rs1108351" "0" "" "" "g.91019707C>A" "" "VUS" "" "0000646516" "0" "55" "15" "91562502" "91562502" "dup" "0" "03401" "VPS33B_000101" "g.91562502dup" "" "" "" "c.97-1386_97-1385insG" "" "Unknown" "" "rs35259252" "0" "" "" "g.91019272dup" "" "VUS" "" "0000646517" "0" "55" "15" "91562367" "91562369" "dup" "0" "03401" "VPS33B_000103" "g.91562367_91562369dup" "" "" "" "" "" "Unknown" "" "rs60709933" "0" "" "" "g.91019137_91019139dup" "" "VUS" "" "0000646518" "0" "55" "15" "91562369" "91562369" "del" "0" "03401" "VPS33B_000121" "g.91562369del" "" "" "" "" "" "Unknown" "" "rs7171019" "0" "" "" "g.91019139del" "" "VUS" "" "0000646519" "0" "55" "15" "91562279" "91562279" "subst" "0" "03401" "VPS33B_000174" "g.91562279A>G" "0.36" "" "" "" "" "Unknown" "" "rs11073966" "0" "" "" "g.91019049A>G" "" "VUS" "" "0000646520" "0" "55" "15" "91562005" "91562005" "subst" "0" "03401" "VPS33B_000181" "g.91562005A>G" "0.338" "" "" "" "" "Unknown" "" "rs8026678" "0" "" "" "g.91018775A>G" "" "VUS" "" "0000646521" "0" "55" "15" "91561586" "91561586" "subst" "0" "03401" "VPS33B_000163" "g.91561586C>T" "0.187" "" "" "" "" "Unknown" "" "rs12161921" "0" "" "" "g.91018356C>T" "" "VUS" "" "0000646522" "0" "55" "15" "91561451" "91561451" "subst" "0" "03401" "VPS33B_000184" "g.91561451A>G" "" "" "" "" "" "Unknown" "" "rs7182400" "0" "" "" "g.91018221A>G" "" "VUS" "" "0000646523" "0" "55" "15" "91561446" "91561446" "subst" "0" "03401" "VPS33B_000190" "g.91561446T>C" "0.339" "" "" "" "" "Unknown" "" "rs7164916" "0" "" "" "g.91018216T>C" "" "VUS" "" "0000646524" "0" "55" "15" "91561182" "91561182" "subst" "0" "03401" "VPS33B_000201" "g.91561182C>T" "0.111" "" "" "" "" "Unknown" "" "rs3743445" "0" "" "" "g.91017952C>T" "" "VUS" "" "0000646525" "3" "99" "15" "91561117" "91561117" "subst" "0" "03401" "VPS33B_000223" "g.91561117T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91017887T>G" "" "pathogenic" "" "0000646526" "0" "55" "15" "91546358" "91561116" "dup" "0" "03401" "VPS33B_000113" "g.91546358_91561116dup" "" "" "" "" "" "Unknown" "" "rs34071618" "0" "" "" "g.91003128_91017886dup" "" "VUS" "" "0000646527" "0" "55" "15" "91561065" "91561065" "subst" "8.12156E-6" "03401" "VPS33B_000034" "g.91561065C>T" "" "" "" "" "" "Unknown" "" "rs143087354" "0" "" "" "g.91017835C>T" "" "VUS" "" "0000646528" "0" "55" "15" "91561061" "91561061" "subst" "0.0849585" "03401" "VPS33B_000035" "g.91561061G>T" "0.082" "" "" "" "" "Unknown" "" "rs11542638" "0" "" "" "g.91017831G>T" "" "VUS" "" "0000646529" "0" "99" "15" "91561061" "91561061" "subst" "0" "03401" "VPS33B_000002" "g.91561061G>A" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91017831G>A" "" "pathogenic" "" "0000646530" "0" "55" "15" "91561047" "91561047" "subst" "4.06075E-6" "03401" "VPS33B_000036" "g.91561047G>A" "" "" "" "" "" "Unknown" "" "rs146446468" "0" "" "" "g.91017817G>A" "" "VUS" "" "0000646531" "0" "55" "15" "91561038" "91561038" "subst" "4.06075E-6" "03401" "VPS33B_000037" "g.91561038C>T" "" "" "" "" "" "Unknown" "" "rs145292016" "0" "" "" "g.91017808C>T" "" "VUS" "" "0000646532" "3" "99" "15" "91561034" "91561034" "subst" "1.21826E-5" "03401" "VPS33B_000011" "g.91561034C>T" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91017804C>T" "" "pathogenic" "" "0000646533" "0" "55" "15" "91560860" "91560860" "subst" "0" "03401" "VPS33B_000185" "g.91560860G>C" "0.106" "" "" "" "" "Unknown" "" "rs7179329" "0" "" "" "g.91017630G>C" "" "VUS" "" "0000646534" "0" "55" "15" "91560709" "91560709" "dup" "0" "03401" "VPS33B_000123" "g.91560709dup" "" "" "" "c.177+325_177+326insG" "" "Unknown" "" "rs5814456" "0" "" "" "g.91017479dup" "" "VUS" "" "0000646535" "0" "55" "15" "91560653" "91560654" "ins" "0" "03401" "VPS33B_000125" "g.91560653_91560654insATATA" "" "" "" "" "" "Unknown" "" "rs3080463" "0" "" "" "g.91017423_91017424insATATA" "" "VUS" "" "0000646536" "0" "55" "15" "91560629" "91560629" "del" "0" "03401" "VPS33B_000089" "g.91560629del" "" "" "" "" "" "Unknown" "" "rs58767763" "0" "" "" "g.91017399del" "" "VUS" "" "0000646537" "0" "55" "15" "91560627" "91560627" "del" "0" "03401" "VPS33B_000093" "g.91560627del" "" "" "" "" "" "Unknown" "" "rs57840208" "0" "" "" "g.91017397del" "" "VUS" "" "0000646538" "0" "55" "15" "91560607" "91560607" "del" "0" "03401" "VPS33B_000119" "g.91560607del" "" "" "" "" "" "Unknown" "" "rs11314057" "0" "" "" "g.91017377del" "" "VUS" "" "0000646539" "0" "55" "15" "91560606" "91560606" "subst" "0" "03401" "VPS33B_000149" "g.91560606A>T" "" "" "" "" "" "Unknown" "" "rs28526303" "0" "" "" "g.91017376A>T" "" "VUS" "" "0000646540" "0" "55" "15" "91560648" "91560653" "dup" "0" "03401" "VPS33B_000104" "g.91560648_91560653dup" "" "" "" "" "" "Unknown" "" "rs36212263" "0" "" "" "g.91017418_91017423dup" "" "VUS" "" "0000646541" "0" "55" "15" "91560595" "91560595" "subst" "0" "03401" "VPS33B_000152" "g.91560595T>A" "" "" "" "" "" "Unknown" "" "rs28464480" "0" "" "" "g.91017365T>A" "" "VUS" "" "0000646542" "0" "55" "15" "91560367" "91560367" "subst" "0" "03401" "VPS33B_000170" "g.91560367G>T" "0.0197" "" "" "" "" "Unknown" "" "rs11857433" "0" "" "" "g.91017137G>T" "" "VUS" "" "0000646543" "3" "99" "15" "91560256" "91560256" "subst" "0" "03401" "VPS33B_000231" "g.91560256T>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91017026T>G" "" "pathogenic" "" "0000646544" "3" "99" "15" "91560255" "91560255" "subst" "0" "03401" "VPS33B_000224" "g.91560255C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91017025C>G" "" "pathogenic" "" "0000646545" "3" "99" "15" "91560255" "91560255" "subst" "0" "03401" "VPS33B_000224" "g.91560255C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91017025C>G" "" "pathogenic" "" "0000646546" "3" "99" "15" "91560255" "91560255" "subst" "0" "03401" "VPS33B_000224" "g.91560255C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91017025C>G" "" "pathogenic" "" "0000646547" "0" "33" "15" "91560249" "91560249" "subst" "0" "03401" "VPS33B_000217" "g.91560249G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91017019G>T" "" "likely benign" "" "0000646548" "0" "33" "15" "91560188" "91560188" "subst" "1.62425E-5" "03401" "VPS33B_000216" "g.91560188C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91016958C>T" "" "likely benign" "" "0000646549" "0" "55" "15" "91560178" "91560178" "subst" "0" "03401" "VPS33B_000167" "g.91560178C>T" "" "" "" "" "" "Unknown" "" "rs12102085" "0" "" "" "g.91016948C>T" "" "VUS" "" "0000646550" "0" "55" "15" "91560108" "91560108" "subst" "0" "03401" "VPS33B_000168" "g.91560108C>T" "" "" "" "" "" "Unknown" "" "rs12102082" "0" "" "" "g.91016878C>T" "" "VUS" "" "0000646551" "0" "55" "15" "91560078" "91560078" "subst" "0" "03401" "VPS33B_000207" "g.91560078T>C" "0.0424" "" "" "" "" "Unknown" "" "rs873130" "0" "" "" "g.91016848T>C" "" "VUS" "" "0000646552" "0" "55" "15" "91559921" "91559921" "subst" "0" "03401" "VPS33B_000202" "g.91559921A>G" "" "" "" "" "" "Unknown" "" "rs2892068" "0" "" "" "g.91016691A>G" "" "VUS" "" "0000646553" "0" "55" "15" "91559800" "91559800" "subst" "0" "03401" "VPS33B_000156" "g.91559800G>A" "" "" "" "" "" "Unknown" "" "rs12907802" "0" "" "" "g.91016570G>A" "" "VUS" "" "0000646554" "0" "55" "15" "91559606" "91559606" "subst" "0" "03401" "VPS33B_000143" "g.91559606T>C" "" "" "" "" "" "Unknown" "" "rs35584309" "0" "" "" "g.91016376T>C" "" "VUS" "" "0000646555" "0" "55" "15" "91558819" "91558819" "subst" "0" "03401" "VPS33B_000188" "g.91558819T>C" "" "" "" "" "" "Unknown" "" "rs7173457" "0" "" "" "g.91015589T>C" "" "VUS" "" "0000646556" "0" "55" "15" "91558570" "91558570" "subst" "0" "03401" "VPS33B_000162" "g.91558570A>T" "0.0671" "" "" "" "" "Unknown" "" "rs12438273" "0" "" "" "g.91015340A>T" "" "VUS" "" "0000646557" "0" "55" "15" "91558457" "91558457" "subst" "0" "03401" "VPS33B_000183" "g.91558457G>A" "0.159" "" "" "" "" "Unknown" "" "rs7183740" "0" "" "" "g.91015227G>A" "" "VUS" "" "0000646558" "0" "55" "15" "91558280" "91558280" "subst" "0" "03401" "VPS33B_000182" "g.91558280C>A" "0.0989" "" "" "" "" "Unknown" "" "rs8023961" "0" "" "" "g.91015050C>A" "" "VUS" "" "0000646559" "3" "99" "15" "91557664" "91557664" "subst" "4.06841E-6" "03401" "VPS33B_000233" "g.91557664C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91014434C>G" "" "pathogenic" "" "0000646560" "0" "99" "15" "91557626" "91557626" "subst" "2.43657E-5" "03401" "VPS33B_000003" "g.91557626G>A" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91014396G>A" "" "pathogenic" "" "0000646561" "3" "99" "15" "91557626" "91557626" "subst" "2.43657E-5" "03401" "VPS33B_000003" "g.91557626G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91014396G>A" "" "pathogenic" "" "0000646562" "0" "55" "15" "91557468" "91557472" "del" "0" "03401" "VPS33B_000085" "g.91557468_91557472del" "" "" "" "c.289+142_289+146del" "" "Unknown" "" "rs61232231" "0" "" "" "g.91014238_91014242del" "" "VUS" "" "0000646563" "0" "55" "15" "91557314" "91557314" "subst" "0" "03401" "VPS33B_000172" "g.91557314T>G" "" "" "" "" "" "Unknown" "" "rs11639488" "0" "" "" "g.91014084T>G" "" "VUS" "" "0000646564" "0" "55" "15" "91557294" "91557294" "subst" "0" "03401" "VPS33B_000133" "g.91557294A>C" "" "" "" "" "" "Unknown" "" "rs58556244" "0" "" "" "g.91014064A>C" "" "VUS" "" "0000646565" "0" "55" "15" "91557186" "91557186" "subst" "0" "03401" "VPS33B_000203" "g.91557186C>T" "0.193" "" "" "" "" "Unknown" "" "rs1972926" "0" "" "" "g.91013956C>T" "" "VUS" "" "0000646566" "0" "55" "15" "91557100" "91557100" "subst" "4.06091E-6" "03401" "VPS33B_000038" "g.91557100A>T" "" "" "" "" "" "Unknown" "" "rs140229088" "0" "" "" "g.91013870A>T" "" "VUS" "" "0000646567" "0" "99" "15" "91557072" "91557072" "subst" "0" "03401" "VPS33B_000004" "g.91557072G>A" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91013842G>A" "" "pathogenic" "" "0000646568" "3" "99" "15" "91557043" "91557043" "del" "0" "03401" "VPS33B_000023" "g.91557043del" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91013813del" "" "pathogenic" "" "0000646569" "3" "99" "15" "91557039" "91557039" "subst" "0" "03401" "VPS33B_000005" "g.91557039G>A" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91013809G>A" "" "pathogenic" "" "0000646570" "0" "55" "15" "91557034" "91557034" "subst" "0.00206283" "03401" "VPS33B_000039" "g.91557034C>T" "" "" "" "" "" "Unknown" "" "rs146758743" "0" "" "" "g.91013804C>T" "" "VUS" "" "0000646571" "0" "55" "15" "91556940" "91556940" "del" "0" "03401" "VPS33B_000086" "g.91556940del" "" "" "" "" "" "Unknown" "" "rs61015089" "0" "" "" "g.91013710del" "" "VUS" "" "0000646572" "0" "55" "15" "91556650" "91556650" "dup" "0" "03401" "VPS33B_000097" "g.91556650dup" "" "" "" "c.357+386_357+387insC" "" "Unknown" "" "rs35635346" "0" "" "" "g.91013420dup" "" "VUS" "" "0000646573" "0" "55" "15" "91556628" "91556628" "del" "0" "03401" "VPS33B_000111" "g.91556628del" "" "" "" "" "" "Unknown" "" "rs34467714" "0" "" "" "g.91013398del" "" "VUS" "" "0000646574" "0" "55" "15" "91555908" "91555908" "subst" "0" "03401" "VPS33B_000130" "g.91555908G>A" "" "" "" "" "" "Unknown" "" "rs59435770" "0" "" "" "g.91012678G>A" "" "VUS" "" "0000646575" "0" "55" "15" "91555333" "91555333" "subst" "0" "03401" "VPS33B_000135" "g.91555333A>C" "" "" "" "" "" "Unknown" "" "rs57967757" "0" "" "" "g.91012103A>C" "" "VUS" "" "0000646576" "0" "55" "15" "91555320" "91555320" "ins" "0" "03401" "VPS33B_000098" "g.91555320dup" "" "" "" "c.357+1714_357+1715insA" "" "Unknown" "" "rs35595021" "0" "" "" "g.91012090dup" "" "VUS" "" "0000646577" "0" "55" "15" "91555318" "91555318" "dup" "0" "03401" "VPS33B_000117" "g.91555318dup" "" "" "" "c.357+1715_357+1716insA" "" "Unknown" "" "rs11430036" "0" "" "" "g.91012088dup" "" "VUS" "" "0000646578" "0" "55" "15" "91555318" "91555318" "dup" "0" "03401" "VPS33B_000095" "g.91555318dup" "" "" "" "c.357+1718_357+1719insA" "" "Unknown" "" "rs35947082" "0" "" "" "g.91012088dup" "" "VUS" "" "0000646579" "0" "55" "15" "91555287" "91555287" "subst" "0" "03401" "VPS33B_000165" "g.91555287A>G" "0.0952" "" "" "" "" "Unknown" "" "rs12148592" "0" "" "" "g.91012057A>G" "" "VUS" "" "0000646580" "0" "55" "15" "91555248" "91555252" "del" "0" "03401" "VPS33B_000090" "g.91555248_91555252del" "" "" "" "c.357+1782_357+1786del" "" "Unknown" "" "rs58411752" "0" "" "" "g.91012018_91012022del" "" "VUS" "" "0000646581" "0" "55" "15" "91555248" "91555252" "dup" "0" "03401" "VPS33B_000091" "g.91555248_91555252dup" "" "" "" "" "" "Unknown" "" "rs58230462" "0" "" "" "g.91012018_91012022dup" "" "VUS" "" "0000646582" "0" "55" "15" "91554854" "91554854" "subst" "0" "03401" "VPS33B_000148" "g.91554854T>C" "0.0917" "" "" "" "" "Unknown" "" "rs34734460" "0" "" "" "g.91011624T>C" "" "VUS" "" "0000646583" "0" "55" "15" "91554528" "91554528" "subst" "0" "03401" "VPS33B_000128" "g.91554528T>C" "" "" "" "" "" "Unknown" "" "rs60112465" "0" "" "" "g.91011298T>C" "" "VUS" "" "0000646584" "0" "55" "15" "91554472" "91554472" "subst" "0" "03401" "VPS33B_000132" "g.91554472T>A" "" "" "" "" "" "Unknown" "" "rs61497411" "0" "" "" "g.91011242T>A" "" "VUS" "" "0000646585" "0" "55" "15" "91554425" "91554425" "subst" "0" "03401" "VPS33B_000176" "g.91554425T>G" "0.35" "" "" "" "" "Unknown" "" "rs10775251" "0" "" "" "g.91011195T>G" "" "VUS" "" "0000646586" "0" "55" "15" "91554198" "91554198" "subst" "0" "03401" "VPS33B_000164" "g.91554198C>A" "0.103" "" "" "" "" "Unknown" "" "rs12148648" "0" "" "" "g.91010968C>A" "" "VUS" "" "0000646587" "0" "55" "15" "91553954" "91553954" "subst" "0" "03401" "VPS33B_000139" "g.91553954T>C" "0.0548" "" "" "" "" "Unknown" "" "rs56838761" "0" "" "" "g.91010724T>C" "" "VUS" "" "0000646588" "0" "55" "15" "91553814" "91553814" "subst" "0" "03401" "VPS33B_000134" "g.91553814G>A" "0.00177" "" "" "" "" "Unknown" "" "rs58511719" "0" "" "" "g.91010584G>A" "" "VUS" "" "0000646589" "0" "55" "15" "91553612" "91553612" "subst" "0" "03401" "VPS33B_000138" "g.91553612C>T" "0.0544" "" "" "" "" "Unknown" "" "rs57486507" "0" "" "" "g.91010382C>T" "" "VUS" "" "0000646590" "0" "55" "15" "91553382" "91553382" "subst" "0" "03401" "VPS33B_000166" "g.91553382G>C" "0.109" "" "" "" "" "Unknown" "" "rs12148524" "0" "" "" "g.91010152G>C" "" "VUS" "" "0000646591" "0" "55" "15" "91553071" "91553071" "subst" "0.00419939" "03401" "VPS33B_000040" "g.91553071A>G" "" "" "" "" "" "Unknown" "" "rs149733667" "0" "" "" "g.91009841A>G" "" "VUS" "" "0000646592" "0" "99" "15" "91553067" "91553068" "del" "0" "03401" "VPS33B_000024" "g.91553067_91553068del" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009837_91009838del" "" "pathogenic" "" "0000646593" "3" "99" "15" "91553030" "91553030" "subst" "0" "03401" "VPS33B_000012" "g.91553030C>T" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009800C>T" "" "pathogenic" "" "0000646594" "0" "99" "15" "91553030" "91553030" "subst" "0" "03401" "VPS33B_000013" "g.91553030C>A" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009800C>A" "" "pathogenic" "" "0000646595" "0" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Jang 2009:19274792}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646596" "0" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646597" "3" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646598" "0" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646599" "0" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646600" "0" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Jang 2009:19274792}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646601" "0" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Jang 2009:19274792}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646602" "3" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Jang 2009:19274792}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646603" "3" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646604" "3" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646605" "0" "99" "15" "91553029" "91553029" "subst" "2.03054E-5" "03401" "VPS33B_000014" "g.91553029A>T" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91009799A>T" "" "pathogenic" "" "0000646606" "0" "55" "15" "91552959" "91552959" "subst" "0" "03401" "VPS33B_000147" "g.91552959G>A" "" "" "" "" "" "Unknown" "" "rs34965984" "0" "" "" "g.91009729G>A" "" "VUS" "" "0000646607" "0" "55" "15" "91552679" "91552679" "subst" "0" "03401" "VPS33B_000144" "g.91552679A>G" "0.0813" "" "" "" "" "Unknown" "" "rs35441561" "0" "" "" "g.91009449A>G" "" "VUS" "" "0000646608" "0" "55" "15" "91552543" "91552543" "subst" "0" "03401" "VPS33B_000151" "g.91552543C>T" "0.0389" "" "" "" "" "Unknown" "" "rs28472341" "0" "" "" "g.91009313C>T" "" "VUS" "" "0000646609" "0" "55" "15" "91552539" "91552542" "dup" "0" "03401" "VPS33B_000124" "g.91552539_91552542dup" "" "" "" "" "" "Unknown" "" "rs3837745" "0" "" "" "g.91009309_91009312dup" "" "VUS" "" "0000646610" "0" "55" "15" "91552531" "91552532" "ins" "0" "03401" "VPS33B_000084" "g.91552531_91552532insTT" "" "" "" "c.403+499_403+500insAA" "" "Unknown" "" "rs61558334" "0" "" "" "g.91009301_91009302insTT" "" "VUS" "" "0000646611" "0" "55" "15" "91552532" "91552533" "dup" "0" "03401" "VPS33B_000099" "g.91552532_91552533dup" "" "" "" "" "" "Unknown" "" "rs35501255" "0" "" "" "g.91009302_91009303dup" "" "VUS" "" "0000646612" "0" "55" "15" "91552003" "91552003" "subst" "0" "03401" "VPS33B_000191" "g.91552003C>T" "0.184" "" "" "" "" "Unknown" "" "rs6496749" "0" "" "" "g.91008773C>T" "" "VUS" "" "0000646613" "0" "55" "15" "91551714" "91551714" "subst" "0" "03401" "VPS33B_000161" "g.91551714C>G" "0.0538" "" "" "" "" "Unknown" "" "rs12439788" "0" "" "" "g.91008484C>G" "" "VUS" "" "0000646614" "0" "55" "15" "91551415" "91551415" "subst" "0" "03401" "VPS33B_000127" "g.91551415C>T" "" "" "" "" "" "Unknown" "" "rs61025684" "0" "" "" "g.91008185C>T" "" "VUS" "" "0000646615" "0" "99" "15" "91551156" "91551165" "del" "0" "03401" "VPS33B_000025" "g.91551156_91551165del" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91007926_91007935del" "" "pathogenic" "" "0000646616" "0" "99" "15" "91551099" "91551099" "subst" "2.84495E-5" "03401" "VPS33B_000015" "g.91551099C>T" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91007869C>T" "" "pathogenic" "" "0000646617" "0" "55" "15" "91550983" "91550983" "subst" "0" "03401" "VPS33B_000137" "g.91550983T>C" "" "" "" "" "" "Unknown" "" "rs57941827" "0" "" "" "g.91007753T>C" "" "VUS" "" "0000646618" "0" "55" "15" "91550953" "91550953" "subst" "0" "03401" "VPS33B_000200" "g.91550953C>G" "0.152" "" "" "" "" "Unknown" "" "rs3743447" "0" "" "" "g.91007723C>G" "" "VUS" "" "0000646619" "0" "55" "15" "91550794" "91550794" "subst" "1.22007E-5" "03401" "VPS33B_000041" "g.91550794G>T" "" "" "" "" "" "Unknown" "" "rs139582205" "0" "" "" "g.91007564G>T" "" "VUS" "" "0000646620" "3" "99" "15" "91550747" "91550748" "del" "0" "03401" "VPS33B_000026" "g.91550747_91550748del" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91007517_91007518del" "" "pathogenic" "" "0000646621" "0" "55" "15" "91550705" "91550705" "subst" "0.0041515" "03401" "VPS33B_000042" "g.91550705G>A" "" "" "" "" "" "Unknown" "" "rs60198611" "0" "" "" "g.91007475G>A" "" "VUS" "" "0000646622" "0" "55" "15" "91550704" "91550704" "subst" "4.46809E-5" "03401" "VPS33B_000043" "g.91550704C>T" "" "" "" "" "" "Unknown" "" "rs142610315" "0" "" "" "g.91007474C>T" "" "VUS" "" "0000646623" "0" "55" "15" "91550664" "91550664" "subst" "0.00416819" "03401" "VPS33B_000131" "g.91550664G>A" "" "" "" "" "" "Unknown" "" "rs59111238" "0" "" "" "g.91007434G>A" "" "VUS" "" "0000646624" "0" "55" "15" "91550449" "91550449" "subst" "0" "03401" "VPS33B_000136" "g.91550449T>C" "" "" "" "" "" "Unknown" "" "rs57942791" "0" "" "" "g.91007219T>C" "" "VUS" "" "0000646625" "0" "55" "15" "91550271" "91550271" "subst" "0.00654858" "03401" "VPS33B_000044" "g.91550271T>C" "" "" "" "" "" "Unknown" "" "rs76867988" "0" "" "" "g.91007041T>C" "" "VUS" "" "0000646626" "0" "55" "15" "91550238" "91550238" "subst" "1.23455E-5" "03401" "VPS33B_000045" "g.91550238C>T" "" "" "" "" "" "Unknown" "" "rs147271815" "0" "" "" "g.91007008C>T" "" "VUS" "" "0000646627" "0" "55" "15" "91550232" "91550232" "subst" "0.0052667" "03401" "VPS33B_000046" "g.91550232G>A" "0.00177" "" "" "" "" "Unknown" "" "rs59648701" "0" "" "" "g.91007002G>A" "" "VUS" "" "0000646628" "0" "99" "15" "91550219" "91550219" "subst" "0" "03401" "VPS33B_000006" "g.91550219G>A" "" "{PMID:Jang 2009:19274792}" "" "" "" "Unknown" "" "" "0" "" "" "g.91006989G>A" "" "pathogenic" "" "0000646629" "0" "99" "15" "91550179" "91550179" "subst" "0" "03401" "VPS33B_000017" "g.91550179C>T" "" "{PMID:Taha 2007:17994566}" "" "" "" "Unknown" "" "" "0" "" "" "g.91006949C>T" "" "pathogenic" "" "0000646630" "0" "55" "15" "91550097" "91550097" "subst" "0" "03401" "VPS33B_000141" "g.91550097G>C" "" "" "" "" "" "Unknown" "" "rs56133045" "0" "" "" "g.91006867G>C" "" "VUS" "" "0000646631" "3" "99" "15" "91549960" "91549960" "subst" "0" "03401" "VPS33B_000016" "g.91549960C>G" "" "{PMID:Hershkovitz 2008:18347289}" "" "" "" "Unknown" "" "" "0" "" "" "g.91006730C>G" "" "pathogenic" "" "0000646632" "0" "99" "15" "91549951" "91549951" "del" "0" "03401" "VPS33B_000225" "g.91549951del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91006721del" "" "pathogenic" "" "0000646633" "0" "99" "15" "91549932" "91549932" "subst" "4.06131E-6" "03401" "VPS33B_000007" "g.91549932G>A" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "rs139829189" "0" "" "" "g.91006702G>A" "" "pathogenic" "" "0000646634" "0" "55" "15" "91549932" "91549932" "subst" "4.06131E-6" "03401" "VPS33B_000047" "g.91549932G>A" "" "" "" "" "" "Unknown" "" "rs139829189" "0" "" "" "g.91006702G>A" "" "VUS" "" "0000646635" "0" "99" "15" "91549920" "91549921" "del" "0" "03401" "VPS33B_000027" "g.91549920_91549921del" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91006690_91006691del" "" "pathogenic" "" "0000646636" "0" "55" "15" "91549899" "91549899" "subst" "4.06144E-6" "03401" "VPS33B_000048" "g.91549899G>C" "" "" "" "" "" "Unknown" "" "rs144850957" "0" "" "" "g.91006669G>C" "" "VUS" "" "0000646637" "0" "55" "15" "91549822" "91549822" "subst" "0" "03401" "VPS33B_000196" "g.91549822G>C" "0.052" "" "" "" "" "Unknown" "" "rs3826032" "0" "" "" "g.91006592G>C" "" "VUS" "" "0000646638" "0" "55" "15" "91549636" "91549636" "subst" "4.06204E-6" "03401" "VPS33B_000049" "g.91549636T>C" "" "" "" "" "" "Unknown" "" "rs149421285" "0" "" "" "g.91006406T>C" "" "VUS" "" "0000646639" "0" "55" "15" "91549612" "91549612" "subst" "0.000499667" "03401" "VPS33B_000050" "g.91549612G>C" "" "" "" "" "" "Unknown" "" "rs115308854" "0" "" "" "g.91006382G>C" "" "VUS" "" "0000646640" "0" "55" "15" "91549537" "91549561" "del" "0" "03401" "VPS33B_000088" "g.91549537_91549561del" "" "" "" "c.852+41_852+65del" "" "Unknown" "" "rs59910084" "0" "" "" "g.91006307_91006331del" "" "VUS" "" "0000646641" "3" "99" "15" "91549292" "91549292" "subst" "0" "03401" "VPS33B_000226" "g.91549292G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91006062G>C" "" "pathogenic" "" "0000646642" "0" "99" "15" "91549291" "91549291" "subst" "0" "03401" "VPS33B_000019" "g.91549291T>C" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91006061T>C" "" "pathogenic" "" "0000646643" "0" "55" "15" "91549268" "91549268" "subst" "4.47267E-5" "03401" "VPS33B_000051" "g.91549268C>T" "" "" "" "" "" "Unknown" "" "rs150252392" "0" "" "" "g.91006038C>T" "" "VUS" "" "0000646644" "0" "55" "15" "91549229" "91549229" "subst" "8.1367E-6" "03401" "VPS33B_000052" "g.91549229C>A" "0.013" "" "" "" "" "Unknown" "" "rs78921701" "0" "" "" "g.91005999C>A" "" "VUS" "" "0000646645" "0" "55" "15" "91549226" "91549226" "subst" "4.06977E-6" "03401" "VPS33B_000053" "g.91549226G>A" "" "" "" "" "" "Unknown" "" "rs142949901" "0" "" "" "g.91005996G>A" "" "VUS" "" "0000646646" "0" "33" "15" "91549180" "91549180" "subst" "0" "03401" "VPS33B_000215" "g.91549180A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91005950A>T" "" "likely benign" "" "0000646647" "0" "99" "15" "91549015" "91549015" "subst" "0" "03401" "VPS33B_000018" "g.91549015C>T" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91005785C>T" "" "pathogenic" "" "0000646648" "0" "99" "15" "91549015" "91549015" "subst" "0" "03401" "VPS33B_000018" "g.91549015C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91005785C>T" "" "pathogenic" "" "0000646649" "0" "99" "15" "91549015" "91549015" "subst" "0" "03401" "VPS33B_000018" "g.91549015C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91005785C>T" "" "pathogenic" "" "0000646650" "0" "55" "15" "91549011" "91549011" "subst" "8.13087E-6" "03401" "VPS33B_000054" "g.91549011G>A" "" "" "" "" "" "Unknown" "" "rs137958887" "0" "" "" "g.91005781G>A" "" "VUS" "" "0000646651" "0" "55" "15" "91549010" "91549010" "subst" "0.00116247" "03401" "VPS33B_000055" "g.91549010C>T" "" "" "" "" "" "Unknown" "" "rs145303578" "0" "" "" "g.91005780C>T" "" "VUS" "" "0000646652" "3" "99" "15" "91548984" "91548984" "del" "0" "03401" "VPS33B_000028" "g.91548984del" "" "{PMID:Bull 2006:16492441}" "" "" "" "Unknown" "" "" "0" "" "" "g.91005754del" "" "pathogenic" "" "0000646653" "0" "55" "15" "91548939" "91548939" "subst" "3.24973E-5" "03401" "VPS33B_000056" "g.91548939G>C" "" "" "" "" "" "Unknown" "" "rs140237411" "0" "" "" "g.91005709G>C" "" "VUS" "" "0000646654" "0" "55" "15" "91548938" "91548938" "subst" "1.62479E-5" "03401" "VPS33B_000057" "g.91548938C>T" "" "" "" "" "" "Unknown" "" "rs151136143" "0" "" "" "g.91005708C>T" "" "VUS" "" "0000646655" "0" "55" "15" "91548924" "91548924" "subst" "0" "03401" "VPS33B_000222" "g.91548924G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91005694G>C" "" "VUS" "" "0000646656" "3" "99" "15" "91548919" "91548919" "subst" "0" "03401" "VPS33B_000227" "g.91548919C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91005689C>A" "" "pathogenic" "" "0000646657" "0" "55" "15" "91548638" "91548638" "subst" "0" "03401" "VPS33B_000058" "g.91548638A>G" "" "" "" "" "" "Unknown" "" "rs143194822" "0" "" "" "g.91005408A>G" "" "VUS" "" "0000646658" "0" "55" "15" "91548601" "91548601" "subst" "0.186714" "03401" "VPS33B_000195" "g.91548601G>A" "0.122" "" "" "" "" "Unknown" "" "rs3826033" "0" "" "" "g.91005371G>A" "" "VUS" "" "0000646659" "0" "55" "15" "91548307" "91548307" "subst" "0.00138937" "03401" "VPS33B_000059" "g.91548307A>G" "" "" "" "" "" "Unknown" "" "rs149121639" "0" "" "" "g.91005077A>G" "" "VUS" "" "0000646660" "0" "55" "15" "91548289" "91548289" "subst" "0.00212061" "03401" "VPS33B_000060" "g.91548289C>T" "" "" "" "" "" "Unknown" "" "rs145070485" "0" "" "" "g.91005059C>T" "" "VUS" "" "0000646661" "0" "55" "15" "91548134" "91548134" "subst" "8.12189E-5" "03401" "VPS33B_000061" "g.91548134T>C" "" "" "" "" "" "Unknown" "" "rs149943529" "0" "" "" "g.91004904T>C" "" "VUS" "" "0000646662" "0" "55" "15" "91548125" "91548125" "subst" "0.000134019" "03401" "VPS33B_000062" "g.91548125A>G" "" "" "" "" "" "Unknown" "" "rs139655526" "0" "" "" "g.91004895A>G" "" "VUS" "" "0000646663" "0" "99" "15" "91548127" "91548127" "del" "0" "03401" "VPS33B_000029" "g.91548127del" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91004897del" "" "pathogenic" "" "0000646664" "0" "99" "15" "91548102" "91548102" "subst" "2.0307E-5" "03401" "VPS33B_000230" "g.91548102C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91004872C>G" "" "pathogenic" "" "0000646665" "20" "99" "15" "91548102" "91548102" "subst" "2.0307E-5" "03401" "VPS33B_000230" "g.91548102C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91004872C>G" "" "pathogenic" "" "0000646666" "0" "55" "15" "91547969" "91547969" "subst" "0" "03401" "VPS33B_000153" "g.91547969A>C" "" "" "" "" "" "Unknown" "" "rs28429241" "0" "" "" "g.91004739A>C" "" "VUS" "" "0000646667" "0" "55" "15" "91547849" "91547849" "dup" "0" "03401" "VPS33B_000110" "g.91547849dup" "" "" "" "c.1225+259_1225+260insG" "" "Unknown" "" "rs34472409" "0" "" "" "g.91004619dup" "" "VUS" "" "0000646668" "0" "55" "15" "91547576" "91547576" "subst" "0" "03401" "VPS33B_000140" "g.91547576T>A" "0.011" "" "" "" "" "Unknown" "" "rs56336349" "0" "" "" "g.91004346T>A" "" "VUS" "" "0000646669" "0" "55" "15" "91547497" "91547497" "subst" "0" "03401" "VPS33B_000146" "g.91547497G>A" "0.0933" "" "" "" "" "Unknown" "" "rs35096138" "0" "" "" "g.91004267G>A" "" "VUS" "" "0000646670" "0" "55" "15" "91547466" "91547467" "ins" "0" "03401" "VPS33B_000094" "g.91547466_91547467insAAG" "" "" "" "" "" "Unknown" "" "rs57109473" "0" "" "" "g.91004236_91004237insAAG" "" "VUS" "" "0000646671" "0" "55" "15" "91547270" "91547270" "subst" "0" "03401" "VPS33B_000177" "g.91547270A>G" "" "" "" "" "" "Unknown" "" "rs8032368" "0" "" "" "g.91004040A>G" "" "VUS" "" "0000646672" "0" "55" "15" "91547183" "91547183" "subst" "0" "03401" "VPS33B_000179" "g.91547183G>A" "" "" "" "" "" "Unknown" "" "rs8030462" "0" "" "" "g.91003953G>A" "" "VUS" "" "0000646673" "0" "55" "15" "91547152" "91547152" "subst" "0" "03401" "VPS33B_000129" "g.91547152C>A" "" "" "" "" "" "Unknown" "" "rs59719728" "0" "" "" "g.91003922C>A" "" "VUS" "" "0000646674" "0" "55" "15" "91546936" "91546936" "subst" "0" "03401" "VPS33B_000192" "g.91546936A>G" "" "" "" "" "" "Unknown" "" "rs6496748" "0" "" "" "g.91003706A>G" "" "VUS" "" "0000646675" "0" "55" "15" "91546925" "91546925" "subst" "0" "03401" "VPS33B_000157" "g.91546925C>T" "" "" "" "" "" "Unknown" "" "rs12905685" "0" "" "" "g.91003695C>T" "" "VUS" "" "0000646676" "0" "55" "15" "91546870" "91546870" "subst" "0" "03401" "VPS33B_000178" "g.91546870A>G" "" "" "" "" "" "Unknown" "" "rs8031686" "0" "" "" "g.91003640A>G" "" "VUS" "" "0000646677" "0" "55" "15" "91546856" "91546856" "subst" "0" "03401" "VPS33B_000180" "g.91546856G>C" "" "" "" "" "" "Unknown" "" "rs8029769" "0" "" "" "g.91003626G>C" "" "VUS" "" "0000646678" "0" "55" "15" "91546755" "91546755" "subst" "0" "03401" "VPS33B_000189" "g.91546755C>T" "0.0417" "" "" "" "" "Unknown" "" "rs7170130" "0" "" "" "g.91003525C>T" "" "VUS" "" "0000646679" "0" "55" "15" "91546751" "91546751" "subst" "0" "03401" "VPS33B_000142" "g.91546751C>A" "0.0919" "" "" "" "" "Unknown" "" "rs35949207" "0" "" "" "g.91003521C>A" "" "VUS" "" "0000646680" "0" "55" "15" "91546711" "91546711" "subst" "0" "03401" "VPS33B_000193" "g.91546711T>C" "0.415" "" "" "" "" "Unknown" "" "rs4522397" "0" "" "" "g.91003481T>C" "" "VUS" "" "0000646681" "0" "55" "15" "91546694" "91546694" "dup" "0" "03401" "VPS33B_000109" "g.91546694dup" "" "" "" "c.1226-332_1226-331insC" "" "Unknown" "" "rs34746298" "0" "" "" "g.91003464dup" "" "VUS" "" "0000646682" "0" "55" "15" "91546613" "91546613" "subst" "0" "03401" "VPS33B_000126" "g.91546613G>A" "0.00177" "" "" "" "" "Unknown" "" "rs61647447" "0" "" "" "g.91003383G>A" "" "VUS" "" "0000646683" "0" "55" "15" "91546497" "91546497" "subst" "0" "03401" "VPS33B_000194" "g.91546497T>G" "0.35" "" "" "" "" "Unknown" "" "rs4244883" "0" "" "" "g.91003267T>G" "" "VUS" "" "0000646684" "0" "55" "15" "91546467" "91546467" "subst" "0" "03401" "VPS33B_000171" "g.91546467T>A" "" "" "" "" "" "Unknown" "" "rs11853600" "0" "" "" "g.91003237T>A" "" "VUS" "" "0000646685" "3" "99" "15" "91546351" "91546352" "delins" "0" "03401" "VPS33B_000033" "g.91546351_91546352delinsC" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91003121_91003122delinsC" "" "pathogenic" "" "0000646686" "3" "99" "15" "91546351" "91546352" "delins" "0" "03401" "VPS33B_000033" "g.91546351_91546352delinsC" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91003121_91003122delinsC" "" "pathogenic" "" "0000646687" "0" "99" "15" "91546328" "91546329" "del" "0" "03401" "VPS33B_000229" "g.91546328_91546329del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91003098_91003099del" "" "pathogenic" "" "0000646688" "0" "55" "15" "91546112" "91546112" "subst" "0" "03401" "VPS33B_000154" "g.91546112G>A" "" "" "" "" "" "Unknown" "" "rs16945159" "0" "" "" "g.91002882G>A" "" "VUS" "" "0000646689" "0" "55" "15" "91546089" "91546089" "dup" "0" "03401" "VPS33B_000118" "g.91546089dup" "" "" "" "c.1272+225_1272+226insT" "" "Unknown" "" "rs11371850" "0" "" "" "g.91002859dup" "" "VUS" "" "0000646690" "0" "55" "15" "91546089" "91546089" "dup" "0" "03401" "VPS33B_000116" "g.91546089dup" "" "" "" "c.1272+227_1272+228insT" "" "Unknown" "" "rs11437266" "0" "" "" "g.91002859dup" "" "VUS" "" "0000646691" "0" "55" "15" "91545904" "91545904" "subst" "0" "03401" "VPS33B_000197" "g.91545904A>T" "0.0523" "" "" "" "" "Unknown" "" "rs3784776" "0" "" "" "g.91002674A>T" "" "VUS" "" "0000646692" "0" "55" "15" "91545881" "91545881" "dup" "0" "03401" "VPS33B_000115" "g.91545881dup" "" "" "" "c.1272+433_1272+434insT" "" "Unknown" "" "rs11437267" "0" "" "" "g.91002651dup" "" "VUS" "" "0000646693" "0" "55" "15" "91545705" "91545705" "subst" "0" "03401" "VPS33B_000173" "g.91545705A>G" "" "" "" "" "" "Unknown" "" "rs11630068" "0" "" "" "g.91002475A>G" "" "VUS" "" "0000646694" "0" "55" "15" "91545411" "91545411" "subst" "0.00127599" "03401" "VPS33B_000063" "g.91545411C>T" "" "" "" "" "" "Unknown" "" "rs139709507" "0" "" "" "g.91002181C>T" "" "VUS" "" "0000646695" "0" "55" "15" "91545378" "91545378" "subst" "5.68754E-5" "03401" "VPS33B_000064" "g.91545378T>C" "" "" "" "" "" "Unknown" "" "rs145418676" "0" "" "" "g.91002148T>C" "" "VUS" "" "0000646696" "3" "99" "15" "91545373" "91545373" "subst" "1.21881E-5" "03401" "VPS33B_000008" "g.91545373G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91002143G>A" "" "pathogenic" "" "0000646697" "0" "99" "15" "91545373" "91545373" "subst" "1.21881E-5" "03401" "VPS33B_000008" "g.91545373G>A" "" "{PMID:Taha 2007:17994566}" "" "" "" "Unknown" "" "" "0" "" "" "g.91002143G>A" "" "pathogenic" "" "0000646698" "3" "99" "15" "91545373" "91545373" "subst" "1.21881E-5" "03401" "VPS33B_000008" "g.91545373G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91002143G>A" "" "pathogenic" "" "0000646699" "3" "99" "15" "91545373" "91545373" "subst" "1.21881E-5" "03401" "VPS33B_000008" "g.91545373G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91002143G>A" "" "pathogenic" "" "0000646700" "3" "99" "15" "91545373" "91545373" "subst" "1.21881E-5" "03401" "VPS33B_000008" "g.91545373G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91002143G>A" "" "pathogenic" "" "0000646701" "3" "99" "15" "91545373" "91545373" "subst" "1.21881E-5" "03401" "VPS33B_000008" "g.91545373G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91002143G>A" "" "pathogenic" "" "0000646702" "3" "99" "15" "91545373" "91545373" "subst" "1.21881E-5" "03401" "VPS33B_000008" "g.91545373G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91002143G>A" "" "pathogenic" "" "0000646703" "3" "99" "15" "91545373" "91545373" "subst" "1.21881E-5" "03401" "VPS33B_000008" "g.91545373G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91002143G>A" "" "pathogenic" "" "0000646704" "0" "99" "15" "91545373" "91545373" "subst" "1.21881E-5" "03401" "VPS33B_000008" "g.91545373G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91002143G>A" "" "pathogenic" "" "0000646705" "0" "55" "15" "91545353" "91545353" "subst" "0.00105215" "03401" "VPS33B_000065" "g.91545353C>T" "" "" "" "" "" "Unknown" "" "rs147407982" "0" "" "" "g.91002123C>T" "" "VUS" "" "0000646706" "0" "55" "15" "91545335" "91545335" "subst" "0" "03401" "VPS33B_000066" "g.91545335G>T" "" "" "" "" "" "Unknown" "" "rs142261328" "0" "" "" "g.91002105G>T" "" "VUS" "" "0000646707" "0" "55" "15" "91545334" "91545334" "subst" "4.8742E-5" "03401" "VPS33B_000067" "g.91545334T>C" "" "" "" "" "" "Unknown" "" "rs148809175" "0" "" "" "g.91002104T>C" "" "VUS" "" "0000646708" "0" "55" "15" "91545329" "91545329" "subst" "0" "03401" "VPS33B_000068" "g.91545329G>T" "" "" "" "" "" "Unknown" "" "rs144383698" "0" "" "" "g.91002099G>T" "" "VUS" "" "0000646709" "0" "55" "15" "91545323" "91545323" "subst" "0.000199048" "03401" "VPS33B_000069" "g.91545323G>A" "" "" "" "" "" "Unknown" "" "rs142964161" "0" "" "" "g.91002093G>A" "" "VUS" "" "0000646710" "0" "55" "15" "91545301" "91545301" "subst" "1.62473E-5" "03401" "VPS33B_000070" "g.91545301G>A" "" "" "" "" "" "Unknown" "" "rs138372388" "0" "" "" "g.91002071G>A" "" "VUS" "" "0000646711" "0" "55" "15" "91545293" "91545293" "subst" "0.000930153" "03401" "VPS33B_000071" "g.91545293G>A" "" "" "" "" "" "Unknown" "" "rs142845101" "0" "" "" "g.91002063G>A" "" "VUS" "" "0000646712" "0" "55" "15" "91545211" "91545211" "subst" "0" "03401" "VPS33B_000199" "g.91545211C>T" "0.0513" "" "" "" "" "Unknown" "" "rs3743448" "0" "" "" "g.91001981C>T" "" "VUS" "" "0000646713" "0" "55" "15" "91544900" "91544900" "subst" "0" "03401" "VPS33B_000145" "g.91544900C>T" "0.1" "" "" "" "" "Unknown" "" "rs35290216" "0" "" "" "g.91001670C>T" "" "VUS" "" "0000646714" "0" "55" "15" "91544879" "91544879" "dup" "0" "03401" "VPS33B_000102" "g.91544879dup" "" "" "" "c.1406-183_1406-182insG" "" "Unknown" "" "rs35159416" "0" "" "" "g.91001649dup" "" "VUS" "" "0000646715" "0" "55" "15" "91544845" "91544845" "subst" "0" "03401" "VPS33B_000175" "g.91544845C>T" "0.0517" "" "" "" "" "Unknown" "" "rs11073965" "0" "" "" "g.91001615C>T" "" "VUS" "" "0000646716" "0" "55" "15" "91544831" "91544831" "subst" "0" "03401" "VPS33B_000160" "g.91544831C>T" "0.0578" "" "" "" "" "Unknown" "" "rs12439887" "0" "" "" "g.91001601C>T" "" "VUS" "" "0000646717" "3" "99" "15" "91544694" "91544694" "subst" "0" "03401" "VPS33B_000219" "g.91544694T>C" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91001464T>C" "" "pathogenic" "" "0000646718" "3" "99" "15" "91544693" "91544693" "subst" "0" "03401" "VPS33B_000220" "g.91544693C>G" "" "{PMID:Gissen 2006:16896922}" "" "" "" "Unknown" "" "" "0" "" "" "g.91001463C>G" "" "pathogenic" "" "0000646719" "0" "55" "15" "91544644" "91544644" "subst" "4.06058E-6" "03401" "VPS33B_000072" "g.91544644C>T" "" "" "" "" "" "Unknown" "" "rs141601851" "0" "" "" "g.91001414C>T" "" "VUS" "" "0000646720" "0" "55" "15" "91544557" "91544557" "del" "0" "03401" "VPS33B_000100" "g.91544557del" "" "" "" "" "" "Unknown" "" "rs35353020" "0" "" "" "g.91001327del" "" "VUS" "" "0000646721" "0" "55" "15" "91544185" "91544185" "subst" "0" "03401" "VPS33B_000155" "g.91544185A>G" "0.0779" "" "" "" "" "Unknown" "" "rs16945157" "0" "" "" "g.91000955A>G" "" "VUS" "" "0000646722" "0" "55" "15" "91544076" "91544076" "subst" "0" "03401" "VPS33B_000158" "g.91544076A>G" "0.275" "" "" "" "" "Unknown" "" "rs12899811" "0" "" "" "g.91000846A>G" "" "VUS" "" "0000646723" "0" "55" "15" "91543808" "91543808" "subst" "0" "03401" "VPS33B_000073" "g.91543808T>A" "" "" "" "" "" "Unknown" "" "rs138436850" "0" "" "" "g.91000578T>A" "" "VUS" "" "0000646724" "3" "99" "15" "91543803" "91543803" "subst" "6.09484E-5" "03401" "VPS33B_000228" "g.91543803C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91000573C>A" "" "pathogenic" "" "0000646725" "0" "99" "15" "91543792" "91543792" "dup" "0" "03401" "VPS33B_000030" "g.91543792dup" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91000562dup" "" "pathogenic" "" "0000646726" "0" "99" "15" "91543792" "91543792" "dup" "0" "03401" "VPS33B_000030" "g.91543792dup" "" "{PMID:Jang 2009:19274792}" "" "" "" "Unknown" "" "" "0" "" "" "g.91000562dup" "" "pathogenic" "" "0000646727" "0" "99" "15" "91543782" "91543782" "subst" "4.06207E-6" "03401" "VPS33B_000009" "g.91543782G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91000552G>A" "" "pathogenic" "" "0000646728" "0" "99" "15" "91543782" "91543782" "subst" "4.06207E-6" "03401" "VPS33B_000218" "g.91543782G>A" "" "{PMID:Jang 2009:19274792}" "" "" "" "Unknown" "" "" "0" "" "" "g.91000552G>A" "" "pathogenic" "" "0000646729" "3" "99" "15" "91543782" "91543782" "subst" "4.06207E-6" "03401" "VPS33B_000009" "g.91543782G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.91000552G>A" "" "pathogenic" "" "0000646730" "3" "99" "15" "91543782" "91543782" "subst" "4.06207E-6" "03401" "VPS33B_000009" "g.91543782G>A" "" "{PMID:Sanseverino 2006:16758438}" "" "" "" "Unknown" "" "" "0" "" "" "g.91000552G>A" "" "pathogenic" "" "0000646731" "0" "99" "15" "91543782" "91543782" "subst" "4.06207E-6" "03401" "VPS33B_000009" "g.91543782G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91000552G>A" "" "pathogenic" "" "0000646732" "0" "99" "15" "91543782" "91543782" "subst" "4.06207E-6" "03401" "VPS33B_000009" "g.91543782G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91000552G>A" "" "pathogenic" "" "0000646733" "0" "99" "15" "91543782" "91543782" "subst" "4.06207E-6" "03401" "VPS33B_000009" "g.91543782G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.91000552G>A" "" "pathogenic" "" "0000646734" "0" "55" "15" "91543763" "91543763" "subst" "0" "03401" "VPS33B_000074" "g.91543763A>G" "" "" "" "" "" "Unknown" "" "rs3177428" "0" "" "" "g.91000533A>G" "" "VUS" "" "0000646735" "0" "55" "15" "91543761" "91543761" "subst" "0.562329" "03401" "VPS33B_000075" "g.91543761C>T" "0.35" "" "" "" "" "Unknown" "" "rs11073964" "0" "" "" "g.91000531C>T" "" "VUS" "" "0000646736" "3" "99" "15" "91543724" "91543725" "ins" "0" "03401" "VPS33B_000031" "g.91543724_91543725insA" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.91000494_91000495insA" "" "pathogenic" "" "0000646737" "0" "55" "15" "91543407" "91543407" "subst" "0" "03401" "VPS33B_000169" "g.91543407C>T" "0.0442" "" "" "" "" "Unknown" "" "rs11858306" "0" "" "" "g.91000177C>T" "" "VUS" "" "0000646738" "0" "55" "15" "91543282" "91543283" "delins" "0" "03401" "VPS33B_000106" "g.91543282_91543283delinsGT" "" "" "" "" "" "Unknown" "" "rs35582587" "0" "" "" "g.91000052_91000053delinsGT" "" "VUS" "" "0000646739" "3" "99" "15" "91543193" "91543193" "subst" "0" "03401" "VPS33B_000010" "g.91543193G>A" "" "{PMID:Gissen 2004:15052268}" "" "" "" "Unknown" "" "" "0" "" "" "g.90999963G>A" "" "pathogenic" "" "0000646740" "0" "55" "15" "91543131" "91543131" "subst" "0.0138924" "03401" "VPS33B_000076" "g.91543131T>A" "" "" "" "" "" "Unknown" "" "rs16945153" "0" "" "" "g.90999901T>A" "" "VUS" "" "0000646741" "3" "99" "15" "91543129" "91543129" "subst" "8.12183E-6" "03401" "VPS33B_000234" "g.91543129C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.90999899C>T" "" "pathogenic" "" "0000646742" "0" "55" "15" "91543010" "91543010" "subst" "0.0147971" "03401" "VPS33B_000077" "g.91543010T>C" "" "" "" "" "" "Unknown" "" "rs148071246" "0" "" "" "g.90999780T>C" "" "VUS" "" "0000646743" "0" "55" "15" "91542980" "91542980" "subst" "0.000328923" "03401" "VPS33B_000078" "g.91542980G>A" "" "" "" "" "" "Unknown" "" "rs146999653" "0" "" "" "g.90999750G>A" "" "VUS" "" "0000646744" "0" "55" "15" "91542967" "91542967" "subst" "0.000207097" "03401" "VPS33B_000079" "g.91542967A>C" "" "" "" "" "" "Unknown" "" "rs145092724" "0" "" "" "g.90999737A>C" "" "VUS" "" "0000646745" "0" "55" "15" "91542927" "91542927" "subst" "8.52736E-5" "03401" "VPS33B_000080" "g.91542927C>T" "" "" "" "" "" "Unknown" "" "rs147814686" "0" "" "" "g.90999697C>T" "" "VUS" "" "0000646746" "0" "55" "15" "91542560" "91542560" "del" "0" "03401" "VPS33B_000114" "g.91542560del" "" "" "" "" "" "Unknown" "" "rs34013300" "0" "" "" "g.90999330del" "" "VUS" "" "0000646747" "0" "55" "15" "91542337" "91542337" "subst" "0" "03401" "VPS33B_000198" "g.91542337C>T" "0.0431" "" "" "" "" "Unknown" "" "rs3743449" "0" "" "" "g.90999107C>T" "" "VUS" "" "0000646748" "0" "55" "15" "91542324" "91542325" "ins" "0" "03401" "VPS33B_000096" "g.91542324_91542325insG" "" "" "" "" "" "Unknown" "" "rs35919890" "0" "" "" "g.90999094_90999095insG" "" "VUS" "" "0000646749" "0" "55" "15" "91542278" "91542278" "subst" "4.06851E-6" "03401" "VPS33B_000081" "g.91542278C>T" "" "" "" "" "" "Unknown" "" "rs144391886" "0" "" "" "g.90999048C>T" "" "VUS" "" "0000646750" "0" "55" "15" "91542257" "91542257" "subst" "8.12737E-6" "03401" "VPS33B_000082" "g.91542257G>A" "" "" "" "" "" "Unknown" "" "rs148962215" "0" "" "" "g.90999027G>A" "" "VUS" "" "0000646751" "0" "99" "15" "91542256" "91542256" "dup" "0" "03401" "VPS33B_000032" "g.91542256dup" "" "{PMID:Cullinane 2009:18853461}" "" "" "" "Unknown" "" "" "0" "" "" "g.90999026dup" "" "pathogenic" "" "0000646752" "0" "55" "15" "91542208" "91542208" "subst" "4.06332E-6" "03401" "VPS33B_000083" "g.91542208G>A" "" "" "" "" "" "Unknown" "" "rs145759754" "0" "" "" "g.90998978G>A" "" "VUS" "" "0000649204" "1" "50" "15" "91548307" "91548307" "subst" "0.00138937" "03575" "VPS33B_000059" "g.91548307A>G" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs149121639}" "Germline" "" "rs149121639" "0" "" "" "g.91005077A>G" "" "VUS" "" "0000680345" "0" "30" "15" "91548289" "91548289" "subst" "0.00212061" "02325" "VPS33B_000060" "g.91548289C>T" "" "" "" "VPS33B(NM_018668.4):c.1166G>A (p.R389Q), VPS33B(NM_018668.5):c.1166G>A (p.R389Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691916" "0" "30" "15" "91544712" "91544712" "subst" "0.000544176" "02326" "VPS33B_000245" "g.91544712C>G" "" "" "" "VPS33B(NM_018668.4):c.1406-20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725389" "0" "30" "15" "91548289" "91548289" "subst" "0.00212061" "02326" "VPS33B_000060" "g.91548289C>T" "" "" "" "VPS33B(NM_018668.4):c.1166G>A (p.R389Q), VPS33B(NM_018668.5):c.1166G>A (p.R389Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000725390" "0" "30" "15" "91553071" "91553071" "subst" "0.00419939" "02326" "VPS33B_000040" "g.91553071A>G" "" "" "" "VPS33B(NM_018668.4):c.363T>C (p.Y121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807022" "0" "30" "15" "91548307" "91548307" "subst" "0.00138937" "02326" "VPS33B_000059" "g.91548307A>G" "" "" "" "VPS33B(NM_018668.4):c.1148T>C (p.I383T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000854253" "0" "10" "15" "91561061" "91561061" "subst" "0.0849585" "02326" "VPS33B_000035" "g.91561061G>T" "" "" "" "VPS33B(NM_018668.4):c.151C>A (p.R51=), VPS33B(NM_018668.5):c.151C>A (p.R51=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892444" "0" "30" "15" "91548600" "91548600" "subst" "8.13074E-5" "02326" "VPS33B_000246" "g.91548600C>T" "" "" "" "VPS33B(NM_018668.4):c.1105+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892445" "0" "30" "15" "91549612" "91549612" "subst" "0.000499667" "02326" "VPS33B_000050" "g.91549612G>C" "" "" "" "VPS33B(NM_018668.4):c.842C>G (p.A281G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000892446" "0" "30" "15" "91557687" "91557687" "dup" "0" "02326" "VPS33B_000247" "g.91557687dup" "" "" "" "VPS33B(NM_018668.4):c.240-16dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914431" "0" "30" "15" "91545293" "91545293" "subst" "0.000930153" "02326" "VPS33B_000071" "g.91545293G>A" "" "" "" "VPS33B(NM_018668.4):c.1392C>T (p.T464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930479" "0" "30" "15" "91549589" "91549589" "subst" "0.000292569" "02326" "VPS33B_000248" "g.91549589C>T" "" "" "" "VPS33B(NM_018668.4):c.852+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950492" "0" "30" "15" "91545411" "91545411" "subst" "0.00127599" "02326" "VPS33B_000063" "g.91545411C>T" "" "" "" "VPS33B(NM_018668.3):c.1274G>A (p.(Ser425Asn)), VPS33B(NM_018668.4):c.1274G>A (p.S425N), VPS33B(NM_018668.5):c.1274G>A (p.S425N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000968055" "0" "30" "15" "91545411" "91545411" "subst" "0.00127599" "02325" "VPS33B_000063" "g.91545411C>T" "" "" "" "VPS33B(NM_018668.3):c.1274G>A (p.(Ser425Asn)), VPS33B(NM_018668.4):c.1274G>A (p.S425N), VPS33B(NM_018668.5):c.1274G>A (p.S425N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981535" "0" "50" "15" "91545372" "91545372" "subst" "2.84386E-5" "01804" "VPS33B_000249" "g.91545372C>T" "" "" "" "VPS33B(NM_018668.5):c.1313G>A (p.(Arg438Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040703" "0" "50" "15" "91542249" "91542249" "subst" "4.06227E-6" "01804" "PRC1_000001" "g.91542249T>C" "" "" "" "VPS33B(NM_018668.5):c.1810A>G (p.(Asn604Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040704" "0" "50" "15" "91542967" "91542967" "subst" "0.000207097" "01804" "VPS33B_000079" "g.91542967A>C" "" "" "" "VPS33B(NM_018668.5):c.1714T>G (p.(Phe572Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040705" "0" "30" "15" "91550281" "91550281" "subst" "0" "01804" "VPS33B_000250" "g.91550281C>G" "" "" "" "VPS33B(NM_018668.5):c.604-5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001055263" "0" "90" "15" "91549622" "91549622" "dup" "0" "01804" "VPS33B_000251" "g.91549622dup" "" "" "" "VPS33B(NM_018668.5):c.832dup (p.(Leu278Profs*10))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 VPS33B ## Count = 298 "{{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}}" "0000313033" "00022646" "10" "1105" "9" "1105" "9" "c.1105+9C>T" "r.(=)" "p.(=)" "" "0000313034" "00022646" "30" "151" "0" "151" "0" "c.151C>A" "r.(?)" "p.(Arg51=)" "" "0000313035" "00022646" "10" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Gly514Ser)" "" "0000313036" "00022646" "10" "240" "-13" "240" "-12" "c.240-13_240-12del" "r.(=)" "p.(=)" "" "0000319743" "00022646" "70" "1235" "0" "1235" "0" "c.1235C>G" "r.(?)" "p.(Pro412Arg)" "" "0000319744" "00022646" "70" "1236" "0" "1236" "0" "c.1236del" "r.(?)" "p.(Lys413ArgfsTer6)" "" "0000324325" "00022646" "50" "1170" "5" "1170" "5" "c.1170+5G>A" "r.spl?" "p.?" "" "0000338905" "00022646" "10" "-325" "0" "-325" "0" "c.-325T>C" "r.(?)" "p.(=)" "" "0000346134" "00022646" "10" "1540" "0" "1540" "0" "c.1540G>A" "r.(?)" "p.(Gly514Ser)" "" "0000351441" "00022646" "90" "1406" "-1" "1406" "-1" "c.1406-1G>C" "r.spl?" "p.?" "" "0000556256" "00022646" "30" "1672" "0" "1672" "0" "c.1672G>C" "r.(?)" "p.(Asp558His)" "" "0000556258" "00022646" "30" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Ser425Asn)" "" "0000556261" "00022646" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(Lys119=)" "" "0000556262" "00022646" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(Lys119=)" "" "0000556265" "00022646" "10" "240" "-13" "240" "-12" "c.240-13_240-12del" "r.(=)" "p.(=)" "" "0000556267" "00022646" "30" "136" "0" "136" "0" "c.136A>T" "r.(?)" "p.(Met46Leu)" "" "0000556268" "00022646" "30" "133" "0" "133" "0" "c.133C>A" "r.(?)" "p.(Leu45Ile)" "" "0000604331" "00022646" "70" "1098" "0" "1099" "0" "c.1098_1099del" "r.(?)" "p.(Glu367Alafs*17)" "14" "0000646492" "00022646" "55" "-354" "-1749" "-354" "-1749" "c.-354-1749dup" "r.?" "p.?" "?" "0000646493" "00022646" "55" "-325" "0" "-325" "0" "c.-325T>C" "r.(?)" "p.(=)" "?" "0000646494" "00022646" "55" "-7" "0" "-7" "0" "c.-7C>T" "r.(?)" "p.(=)" "?" "0000646495" "00022646" "99" "-354" "0" "2285" "127" "c.(?_-354)_(*431+127_?)del" "r.?" "p.(0?)" "?" "0000646496" "00022646" "99" "240" "-577" "290" "-156" "c.240-577_290-156del" "r.?" "p.(Leu81Serfs*5)" "?" "0000646497" "00022646" "55" "1979" "0" "1979" "0" "c.*125C>T" "r.(=)" "p.(=)" "?" "0000646498" "00022646" "55" "2285" "126" "2285" "126" "c.*431+126T>C" "r.?" "p.?" "?" "0000646499" "00022646" "55" "2285" "193" "2285" "193" "c.*431+193dup" "r.?" "p.?" "?" "0000646500" "00022646" "55" "2285" "39" "2285" "39" "c.*431+39T>A" "r.?" "p.?" "?" "0000646501" "00022646" "33" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(=)" "1" "0000646502" "00022646" "99" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "1" "0000646503" "00022646" "99" "89" "0" "89" "0" "c.89T>C" "r.(?)" "p.(Leu30Pro)" "1" "0000646504" "00022646" "55" "96" "576" "96" "576" "c.96+576A>T" "r.(=)" "p.(=)" "1i" "0000646505" "00022646" "55" "96" "628" "96" "628" "c.96+628G>A" "r.(=)" "p.(=)" "1i" "0000646506" "00022646" "55" "96" "1127" "96" "1127" "c.96+1127C>T" "r.(=)" "p.(=)" "1i" "0000646507" "00022646" "55" "96" "1316" "96" "1316" "c.96+1316C>T" "r.(=)" "p.(=)" "1i" "0000646508" "00022646" "55" "96" "1555" "96" "1555" "c.96+1555T>C" "r.(=)" "p.(=)" "1i" "0000646509" "00022646" "55" "96" "1614" "96" "1614" "c.96+1614dup" "r.(=)" "p.(=)" "1i" "0000646510" "00022646" "55" "96" "1614" "96" "1614" "c.96+1614dup" "r.(=)" "p.(=)" "1i" "0000646511" "00022646" "55" "96" "1871" "96" "1871" "c.96+1871A>G" "r.(=)" "p.(=)" "1i" "0000646512" "00022646" "55" "97" "-1925" "97" "-1925" "c.97-1925dup" "r.(=)" "p.(=)" "1i" "0000646513" "00022646" "55" "97" "-1925" "97" "-1925" "c.97-1925dup" "r.(=)" "p.(=)" "1i" "0000646514" "00022646" "55" "97" "-1925" "97" "-1925" "c.97-1925dup" "r.(=)" "p.(=)" "1i" "0000646515" "00022646" "55" "97" "-1822" "97" "-1822" "c.97-1822G>T" "r.(=)" "p.(=)" "1i" "0000646516" "00022646" "55" "97" "-1386" "97" "-1386" "c.97-1386dup" "r.(=)" "p.(=)" "1i" "0000646517" "00022646" "55" "97" "-1232" "97" "-1230" "c.97-1232_97-1230dup" "r.(=)" "p.(=)" "1i" "0000646518" "00022646" "55" "97" "-1230" "97" "-1230" "c.97-1230del" "r.(=)" "p.(=)" "1i" "0000646519" "00022646" "55" "97" "-1164" "97" "-1164" "c.97-1164T>C" "r.(=)" "p.(=)" "1i" "0000646520" "00022646" "55" "97" "-890" "97" "-890" "c.97-890T>C" "r.(=)" "p.(=)" "1i" "0000646521" "00022646" "55" "97" "-471" "97" "-471" "c.97-471G>A" "r.(=)" "p.(=)" "1i" "0000646522" "00022646" "55" "97" "-336" "97" "-336" "c.97-336T>C" "r.(=)" "p.(=)" "1i" "0000646523" "00022646" "55" "97" "-331" "97" "-331" "c.97-331A>G" "r.(=)" "p.(=)" "1i" "0000646524" "00022646" "55" "97" "-67" "97" "-67" "c.97-67G>A" "r.(=)" "p.(=)" "1i" "0000646525" "00022646" "99" "97" "-2" "97" "-2" "c.97-2A>C" "r.spl?" 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"p.(Asp450Glu)" "18" "0000646707" "00022646" "55" "1351" "0" "1351" "0" "c.1351A>G" "r.(?)" "p.(Thr451Ala)" "18" "0000646708" "00022646" "55" "1356" "0" "1356" "0" "c.1356C>A" "r.(?)" "p.(=)" "18" "0000646709" "00022646" "55" "1362" "0" "1362" "0" "c.1362C>T" "r.(?)" "p.(=)" "18" "0000646710" "00022646" "55" "1384" "0" "1384" "0" "c.1384C>T" "r.(?)" "p.(=)" "18" "0000646711" "00022646" "55" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(=)" "18" "0000646712" "00022646" "55" "1405" "69" "1405" "69" "c.1405+69G>A" "r.(=)" "p.(=)" "18i" "0000646713" "00022646" "55" "1406" "-208" "1406" "-208" "c.1406-208G>A" "r.(=)" "p.(=)" "18i" "0000646714" "00022646" "55" "1406" "-183" "1406" "-183" "c.1406-183dup" "r.(=)" "p.(=)" "18i" "0000646715" "00022646" "55" "1406" "-153" "1406" "-153" "c.1406-153G>A" "r.(=)" "p.(=)" "18i" "0000646716" "00022646" "55" "1406" "-139" "1406" "-139" "c.1406-139G>A" "r.(=)" "p.(=)" "18i" "0000646717" "00022646" "99" "1406" "-2" "1406" "-2" "c.1406-2A>G" "r.spl?" 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"p.(Arg585Gln)" "22" "0000646746" "00022646" "55" "1775" "-265" "1775" "-265" "c.1775-265del" "r.(=)" "p.(=)" "22i" "0000646747" "00022646" "55" "1775" "-53" "1775" "-53" "c.1775-53G>A" "r.(=)" "p.(=)" "22i" "0000646748" "00022646" "55" "1775" "-41" "1775" "-40" "c.1775-41_1775-40insC" "r.(=)" "p.(=)" "22i" "0000646749" "00022646" "55" "1781" "0" "1781" "0" "c.1781G>A" "r.(?)" "p.(Arg594Lys)" "23" "0000646750" "00022646" "55" "1802" "0" "1802" "0" "c.1802C>T" "r.(?)" "p.(Ala601Val)" "23" "0000646751" "00022646" "99" "1803" "0" "1803" "0" "c.1803dup" "r.(?)" "p.(Val602Serfs*13)" "23" "0000646752" "00022646" "55" "1851" "0" "1851" "0" "c.1851C>T" "r.(?)" "p.(=)" "23" "0000649204" "00022646" "50" "1148" "0" "1148" "0" "c.1148T>C" "r.(?)" "p.(Ile383Thr)" "" "0000680345" "00022646" "30" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Arg389Gln)" "" "0000691916" "00022646" "30" "1406" "-20" "1406" "-20" "c.1406-20G>C" "r.(=)" "p.(=)" "" "0000725389" "00022646" "30" "1166" "0" "1166" "0" "c.1166G>A" "r.(?)" "p.(Arg389Gln)" "" "0000725390" "00022646" "30" "363" "0" "363" "0" "c.363T>C" "r.(?)" "p.(Tyr121=)" "" "0000807022" "00022646" "30" "1148" "0" "1148" "0" "c.1148T>C" "r.(?)" "p.(Ile383Thr)" "" "0000854253" "00022646" "10" "151" "0" "151" "0" "c.151C>A" "r.(?)" "p.(Arg51=)" "" "0000892444" "00022646" "30" "1105" "10" "1105" "10" "c.1105+10G>A" "r.(=)" "p.(=)" "" "0000892445" "00022646" "30" "842" "0" "842" "0" "c.842C>G" "r.(?)" "p.(Ala281Gly)" "" "0000892446" "00022646" "30" "240" "-16" "240" "-16" "c.240-16dup" "r.(=)" "p.(=)" "" "0000914431" "00022646" "30" "1392" "0" "1392" "0" "c.1392C>T" "r.(?)" "p.(Thr464=)" "" "0000930479" "00022646" "30" "852" "13" "852" "13" "c.852+13G>A" "r.(=)" "p.(=)" "" "0000950492" "00022646" "30" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Ser425Asn)" "" "0000968055" "00022646" "30" "1274" "0" "1274" "0" "c.1274G>A" "r.(?)" "p.(Ser425Asn)" "" "0000981535" "00022646" "50" "1313" "0" "1313" "0" "c.1313G>A" "r.(?)" "p.(Arg438Gln)" "" "0001040703" "00022646" "50" "1810" "0" "1810" "0" "c.1810A>G" "r.(?)" "p.(Asn604Asp)" "" "0001040704" "00022646" "50" "1714" "0" "1714" "0" "c.1714T>G" "r.(?)" "p.(Phe572Val)" "" "0001040705" "00022646" "30" "604" "-5" "604" "-5" "c.604-5G>C" "r.spl?" "p.?" "" "0001055263" "00022646" "90" "832" "0" "832" "0" "c.832dup" "r.(?)" "p.(Leu278Profs*10)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 85 "{{screeningid}}" "{{variantid}}" "0000000010" "0000646501" "0000000056" "0000646547" "0000000057" "0000646548" "0000000150" "0000646646" "0000270564" "0000604331" "0000290068" "0000646495" "0000290068" "0000646733" "0000290069" "0000646496" "0000290069" "0000646665" "0000290070" "0000646502" "0000290070" "0000646655" "0000290071" "0000646503" "0000290072" "0000646525" "0000290073" "0000646529" "0000290073" "0000646615" "0000290074" "0000646532" "0000290075" "0000646543" "0000290076" "0000646544" "0000290077" "0000646545" "0000290078" "0000646546" "0000290079" "0000646559" "0000290080" "0000646560" "0000290080" "0000646592" "0000290081" "0000646561" "0000290082" "0000646567" "0000290082" "0000646594" "0000290083" "0000646568" "0000290084" "0000646569" "0000290085" "0000646593" "0000290086" "0000646595" "0000290086" "0000646628" "0000290087" "0000646596" "0000290087" "0000646633" "0000290088" "0000646597" "0000290089" "0000646598" "0000290089" "0000646725" "0000290090" "0000646599" "0000290090" "0000646751" "0000290091" "0000646600" "0000290091" "0000646728" "0000290092" "0000646601" "0000290092" "0000646726" "0000290093" "0000646602" "0000290094" "0000646603" "0000290095" "0000646604" "0000290096" "0000646605" "0000290097" "0000646616" "0000290098" "0000646620" "0000290099" "0000646629" "0000290099" "0000646697" "0000290100" "0000646631" "0000290101" "0000646632" "0000290101" "0000646704" "0000290102" "0000646635" "0000290103" "0000646641" "0000290104" "0000646642" "0000290104" "0000646727" "0000290105" "0000646647" "0000290106" "0000646648" "0000290106" "0000646731" "0000290107" "0000646649" "0000290107" "0000646732" "0000290108" "0000646652" "0000290109" "0000646656" "0000290110" "0000646663" "0000290111" "0000646664" "0000290111" "0000646687" "0000290112" "0000646685" "0000290113" "0000646686" "0000290114" "0000646696" "0000290115" "0000646698" "0000290116" "0000646699" "0000290117" "0000646700" "0000290118" "0000646701" "0000290119" "0000646702" "0000290120" "0000646703" "0000290121" "0000646717" "0000290122" "0000646718" "0000290123" "0000646724" "0000290124" "0000646729" "0000290125" "0000646730" "0000290126" "0000646736" "0000290127" "0000646739" "0000290128" "0000646741" "0000292515" "0000649204"