### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = HGF) # 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}}" "HGF" "hepatocyte growth factor (hepapoietin A; scatter factor)" "7" "q21.1" "unknown" "NC_000007.13" "UD_132118257848" "" "https://www.LOVD.nl/HGF" "" "1" "4893" "3082" "142409" "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/HGF_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-12-31 16:00:00" "00000" "2024-08-28 13:16:32" ## 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}}" "00009300" "HGF" "transcript variant 1" "002" "NM_000601.4" "" "NP_000592.3" "" "" "" "-165" "2640" "2187" "81399452" "81331444" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "02748" "DFNB39" "deafness, autosomal recessive, type 39 (DFNB-39)" "AR" "608265" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "HGF" "02748" "HGF" "05400" ## Individuals ## Do not remove or alter this header ## ## Count = 87 "{{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}}" "00283428" "" "" "" "1" "" "00004" "{PMID:Finegold 2008:18564920}" "" "" "" "" "" "0" "" "" "" "" "00283429" "" "" "" "1" "" "00004" "{PMID:Finegold 2008:18564920}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283430" "" "" "" "1" "" "00004" "{PMID:Finegold 2008:18564920}" "" "" "" "" "" "0" "" "" "" "" "00283431" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283432" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283433" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283434" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283435" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283436" "" "" "" "1" "" "00004" "{PMID:Finegold 2008:18564920}" "" "" "" "" "" "0" "" "" "" "" "00283437" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283438" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283439" "" "" "" "1" "" "00004" "{PMID:Schultz 2009:19576567}, {PMID:Shearer 1993:20301607}" "" "" "" "" "" "0" "" "" "" "" "00294503" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294504" "" "" "" "59" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00401635" "" "" "" "17" "" "00000" "{PMID:Mei 2021:33976695}" "6-generation family, 22 affected (8F, 14M), unaffected heterozygous carrier parents; family seggregates different pathogenic variant in 5 males" "F" "yes" "Pakistan" "" "0" "" "" "Okara" "PK-DB-OKA-01PatIV24" "00401636" "" "" "" "5" "" "00000" "{PMID:Mei 2021:33976695}" "5 males seggregating POU3F4 variant" "M" "yes" "Pakistan" "" "0" "" "" "Okara" "PK-DB-OKA-01PatIII10/IV5/6" "00428328" "" "" "" "5" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Pakistan" "" "0" "" "" "" "PKDF002" "00428329" "" "" "" "6" "" "00006" "{PMID:Schultz 2009:19576567}" "6-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Pakistan" "" "0" "" "" "" "PKDF084" "00428330" "" "" "" "5" "" "00006" "{PMID:Schultz 2009:19576567}" "9-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF121" "00428331" "" "" "" "5" "" "00006" "{PMID:Schultz 2009:19576567}" "6-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF157" "00428332" "" "" "" "20" "" "00006" "{PMID:Schultz 2009:19576567}" "7-generation family, 20 affected (6F, 14M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF204" "00428333" "" "" "" "6" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF239" "00428334" "" "" "" "4" "" "00006" "{PMID:Schultz 2009:19576567}" "7-generation family, 4 affected (4F), unaffected heterozygous carrier parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF351" "00428335" "" "" "" "4" "" "00006" "{PMID:Schultz 2009:19576567}" "6-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF352" "00428336" "" "" "" "5" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF402" "00428337" "" "" "" "6" "" "00006" "{PMID:Schultz 2009:19576567}" "7-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Pakistan" "" "0" "" "" "" "PKDF711" "00428338" "" "" "" "6" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF841" "00428339" "" "" "" "3" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF847" "00428340" "" "" "" "4" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF879" "00428341" "" "" "" "13" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 13 affected (4F, 9M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKDF1113" "00428342" "" "" "" "2" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 2 affected brothers (2M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "PKSR36" "00428343" "" "" "" "3" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKSR53" "00428344" "" "" "" "5" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "PKSR2" "00428345" "" "" "" "4" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "India" "" "0" "" "" "" "IDM13" "00428346" "" "" "" "3" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "India" "" "0" "" "" "" "Kla2" "00428347" "" "" "" "1" "" "00006" "{PMID:Schultz 2009:19576567}" "family" "" "" "Pakistan" "" "0" "" "" "" "DEM4011" "00428348" "" "" "" "3" "" "00006" "{PMID:Schultz 2009:19576567}" "6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4017A" "00428349" "" "" "" "7" "" "00006" "{PMID:Schultz 2009:19576567}" "6-generation family, 7 affected (2F, 5M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4018" "00428350" "" "" "" "3" "" "00006" "{PMID:Schultz 2009:19576567}" "6-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4048" "00428351" "" "" "" "4" "" "00006" "{PMID:Schultz 2009:19576567}" "2-generation family, 4 affected sibs (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "Pakistan" "" "0" "" "" "" "DEM4050" "00428352" "" "" "" "6" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4058" "00428353" "" "" "" "13" "" "00006" "{PMID:Schultz 2009:19576567}" "7-generation family, 13 affected (8F, 5M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4071" "00428354" "" "" "" "6" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 6 affected (3F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4142" "00428355" "" "" "" "6" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 6 affected (F, 5M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4174" "00428356" "" "" "" "6" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 6 affected (2F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4199" "00428357" "" "" "" "5" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4201" "00428358" "" "" "" "4" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4212" "00428359" "" "" "" "2" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "DEM4320" "00428360" "" "" "" "2" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4332" "00428361" "" "" "" "1" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "DEM4333A" "00428362" "" "" "" "2" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Pakistan" "" "0" "" "" "" "DEM4333B" "00428363" "" "" "" "4" "" "00006" "{PMID:Schultz 2009:19576567}" "6-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4434" "00428364" "" "" "" "4" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4443" "00428365" "" "" "" "4" "" "00006" "{PMID:Schultz 2009:19576567}" "4-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4467" "00428366" "" "" "" "5" "" "00006" "{PMID:Schultz 2009:19576567}" "6-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "DEM4472" "00428367" "" "" "" "5" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 5 affected (1F, 4M), unaffected heterozygous carrier parents/relatives" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF601" "00428368" "" "" "" "3" "" "00006" "{PMID:Schultz 2009:19576567}" "5-generation family, 3 affected (1F, 4M), unaffected heterozygous carrier parents/relatives2" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF210" "00428369" "" "" "" "2" "" "00006" "{PMID:Schultz 2009:19576567}" "analysis 429 controls" "" "" "Pakistan" "" "0" "" "" "" "controls" "00441250" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4494" "00441251" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4521" "00441252" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4522" "00441253" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4562" "00441254" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4564" "00441255" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4586" "00441256" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4622" "00441257" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4628" "00441258" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4642" "00441259" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4665" "00441260" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4701" "00441261" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4865" "00441262" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4861" "00441263" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4880" "00441264" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4925" "00441265" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4943" "00441266" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF970a" "00441267" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1017" "00441268" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1331" "00441269" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1579" "00441270" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1604" "00441271" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1637" "00441272" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1668" "00441273" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1754" "00441274" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1787" "00441275" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1791" "00441276" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1775" "00441650" "" "" "" "2" "" "00006" "{PMID:Schultz 2009:19576567}, {PMID:Naz 2017:27573290}" "family, 2 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLAI-18" "00448500" "" "" "" "1" "" "04656" "" "" "" "yes" "Pakistan" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 79 "{{individualid}}" "{{diseaseid}}" "00283428" "00198" "00283430" "00198" "00283436" "00198" "00283439" "05086" "00294503" "00198" "00294504" "00198" "00401635" "05103" "00401636" "05103" "00428328" "05400" "00428329" "05400" "00428330" "05400" "00428331" "05400" "00428332" "05400" "00428333" "05400" "00428334" "05400" "00428335" "05400" "00428336" "05400" "00428337" "05400" "00428338" "05400" "00428339" "05400" "00428340" "05400" "00428341" "05400" "00428342" "05400" "00428343" "05400" "00428344" "05400" "00428345" "05400" "00428346" "05400" "00428347" "05400" "00428348" "05400" "00428349" "05400" "00428350" "05400" "00428351" "05400" "00428352" "05400" "00428353" "05400" "00428354" "05400" "00428355" "05400" "00428356" "05400" "00428357" "05400" "00428358" "05400" "00428359" "05400" "00428360" "05400" "00428361" "05400" "00428362" "05400" "00428363" "05400" "00428364" "05400" "00428365" "05400" "00428366" "05400" "00428367" "05400" "00428368" "05400" "00428369" "00000" "00441250" "05086" "00441251" "05086" "00441252" "05086" "00441253" "05086" "00441254" "05086" "00441255" "05086" "00441256" "05086" "00441257" "05086" "00441258" "05086" "00441259" "05086" "00441260" "05086" "00441261" "05086" "00441262" "05086" "00441263" "05086" "00441264" "05086" "00441265" "05086" "00441266" "05086" "00441267" "05086" "00441268" "05086" "00441269" "05086" "00441270" "05086" "00441271" "05086" "00441272" "05086" "00441273" "05086" "00441274" "05086" "00441275" "05086" "00441276" "05086" "00441650" "05086" "00448500" "02748" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02748, 05086, 05103, 05400 ## Count = 76 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000216692" "00198" "00283428" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Lymphoedema" "" "0000216693" "00198" "00283430" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Lymphoedema" "" "0000216694" "00198" "00283436" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Lymphoedema" "" "0000218209" "05086" "00283439" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic" "" "0000319230" "05103" "00401635" "00006" "Familial, autosomal recessive" "" "bilateral profound hearing loss" "" "" "" "" "" "" "" "" "DFNB39" "hearing loss" "" "0000319231" "05103" "00401636" "00006" "Familial, autosomal recessive" "" "hearing loss" "" "" "" "" "" "" "" "" "DFNX2" "hearing loss" "" "0000319236" "05400" "00428328" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319237" "05400" "00428329" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319238" "05400" "00428330" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319239" "05400" "00428331" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319240" "05400" "00428332" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319241" "05400" "00428333" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319242" "05400" "00428334" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319243" "05400" "00428335" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319244" "05400" "00428336" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319245" "05400" "00428337" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319246" "05400" "00428338" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319247" "05400" "00428339" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319248" "05400" "00428340" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319249" "05400" "00428341" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319250" "05400" "00428342" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319251" "05400" "00428343" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319252" "05400" "00428344" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319253" "05400" "00428345" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319254" "05400" "00428346" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319255" "05400" "00428347" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319256" "05400" "00428348" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319257" "05400" "00428349" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319258" "05400" "00428350" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319259" "05400" "00428351" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319260" "05400" "00428352" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319261" "05400" "00428353" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319262" "05400" "00428354" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319263" "05400" "00428355" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319264" "05400" "00428356" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319265" "05400" "00428357" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319266" "05400" "00428358" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319267" "05400" "00428359" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319268" "05400" "00428360" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319269" "05400" "00428361" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319270" "05400" "00428362" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319271" "05400" "00428363" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319272" "05400" "00428364" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319273" "05400" "00428365" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319274" "05400" "00428366" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319275" "05400" "00428367" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000319276" "05400" "00428368" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "DFNB39" "nonsyndromic hearing loss" "" "0000330690" "05086" "00441250" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330691" "05086" "00441251" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330692" "05086" "00441252" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330693" "05086" "00441253" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330694" "05086" "00441254" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330695" "05086" "00441255" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330696" "05086" "00441256" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330697" "05086" "00441257" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330698" "05086" "00441258" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330699" "05086" "00441259" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330700" "05086" "00441260" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330701" "05086" "00441261" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330702" "05086" "00441262" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330703" "05086" "00441263" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330704" "05086" "00441264" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330705" "05086" "00441265" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330706" "05086" "00441266" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330707" "05086" "00441267" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330708" "05086" "00441268" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330709" "05086" "00441269" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330710" "05086" "00441270" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330711" "05086" "00441271" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330712" "05086" "00441272" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330713" "05086" "00441273" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330714" "05086" "00441274" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330715" "05086" "00441275" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330716" "05086" "00441276" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331059" "05086" "00441650" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000337683" "02748" "00448500" "04656" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Severe Hearing loss, Asymmetric" "" ## Screenings ## Do not remove or alter this header ## ## Count = 87 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000284578" "00283428" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284579" "00283429" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284580" "00283430" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284581" "00283431" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284582" "00283432" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284583" "00283433" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284584" "00283434" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284585" "00283435" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284586" "00283436" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284587" "00283437" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284588" "00283438" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284589" "00283439" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000295671" "00294503" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295672" "00294504" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000402878" "00401635" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA" "blood" "" "0000402879" "00401636" "1" "00000" "00008" "2022-02-01 10:38:45" "" "" "SEQ;PCR;SEQ-NG" "DNA" "blood" "" "0000429740" "00428328" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429741" "00428329" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429742" "00428330" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429743" "00428331" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429744" "00428332" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429745" "00428333" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429746" "00428334" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429747" "00428335" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429748" "00428336" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429749" "00428337" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429750" "00428338" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429751" "00428339" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429752" "00428340" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429753" "00428341" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429754" "00428342" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429755" "00428343" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429756" "00428344" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429757" "00428345" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429758" "00428346" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429759" "00428347" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429760" "00428348" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429761" "00428349" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429762" "00428350" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429763" "00428351" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429764" "00428352" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429765" "00428353" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429766" "00428354" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429767" "00428355" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429768" "00428356" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429769" "00428357" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429770" "00428358" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429771" "00428359" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429772" "00428360" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429773" "00428361" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429774" "00428362" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429775" "00428363" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429776" "00428364" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429777" "00428365" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429778" "00428366" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429779" "00428367" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "SEQ" "DNA" "" "" "0000429780" "00428368" "1" "00006" "00006" "2023-01-01 11:36:45" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000429781" "00428369" "1" "00006" "00006" "2023-01-01 11:38:45" "" "" "SEQ" "DNA" "" "" "0000442736" "00441250" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442737" "00441251" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442738" "00441252" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442739" "00441253" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442740" "00441254" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442741" "00441255" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442742" "00441256" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442743" "00441257" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442744" "00441258" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442745" "00441259" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442746" "00441260" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442747" "00441261" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442748" "00441262" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442749" "00441263" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442750" "00441264" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442751" "00441265" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442752" "00441266" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442753" "00441267" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442754" "00441268" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442755" "00441269" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442756" "00441270" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442757" "00441271" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442758" "00441272" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442759" "00441273" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442760" "00441274" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442761" "00441275" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442762" "00441276" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443136" "00441650" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000450080" "00448500" "1" "04656" "04656" "2024-03-18 07:05:58" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{geneid}}" "0000284578" "HGF" "0000284579" "HGF" "0000284580" "HGF" "0000284581" "HGF" "0000284582" "HGF" "0000284583" "HGF" "0000284584" "HGF" "0000284585" "HGF" "0000284586" "HGF" "0000284587" "HGF" "0000284588" "HGF" "0000284589" "HGF" "0000402878" "HGF" "0000402878" "MYO7A" "0000402878" "TECTA" "0000402879" "POU3F4" "0000429740" "HGF" "0000429741" "HGF" "0000429742" "HGF" "0000429743" "HGF" "0000429744" "HGF" "0000429745" "HGF" "0000429746" "HGF" "0000429747" "HGF" "0000429748" "HGF" "0000429749" "HGF" "0000429750" "HGF" "0000429751" "HGF" "0000429752" "HGF" "0000429753" "HGF" "0000429754" "HGF" "0000429755" "HGF" "0000429756" "HGF" "0000429757" "HGF" "0000429758" "HGF" "0000429759" "HGF" "0000429760" "HGF" "0000429761" "HGF" "0000429762" "HGF" "0000429763" "HGF" "0000429764" "HGF" "0000429765" "HGF" "0000429766" "HGF" "0000429767" "HGF" "0000429768" "HGF" "0000429769" "HGF" "0000429770" "HGF" "0000429771" "HGF" "0000429772" "HGF" "0000429773" "HGF" "0000429774" "HGF" "0000429775" "HGF" "0000429776" "HGF" "0000429777" "HGF" "0000429778" "HGF" "0000429779" "HGF" "0000429780" "HGF" "0000429781" "HGF" "0000450080" "HGF" ## 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 = 115 "{{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}}" "0000246583" "0" "10" "7" "81374351" "81374351" "subst" "0.00267901" "02330" "HGF_000008" "g.81374351A>G" "" "" "" "HGF(NM_000601.6):c.711T>C (p.H237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81745035A>G" "" "benign" "" "0000246637" "0" "30" "7" "81374380" "81374380" "subst" "0.000162615" "02330" "HGF_000006" "g.81374380A>C" "" "" "" "HGF(NM_000601.6):c.682T>G (p.S228A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81745064A>C" "" "likely benign" "" "0000256676" "0" "50" "7" "81339467" "81339467" "subst" "4.06679E-6" "01943" "HGF_000002" "g.81339467A>G" "" "" "" "HGF(NM_000601.5):c.1537T>C (p.Y513H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81710151A>G" "" "VUS" "" "0000277630" "0" "10" "7" "81358953" "81358953" "subst" "0.00170994" "02330" "HGF_000004" "g.81358953C>T" "" "" "" "HGF(NM_000601.5):c.1008G>A (p.E336=), HGF(NM_000601.6):c.1008G>A (p.E336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81729637C>T" "" "benign" "" "0000277631" "0" "10" "7" "81346685" "81346685" "subst" "0.812207" "02330" "HGF_000003" "g.81346685T>C" "" "" "" "HGF(NM_000601.6):c.1272-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81717369T>C" "" "benign" "" "0000277632" "0" "50" "7" "81334828" "81334828" "subst" "8.15541E-6" "02330" "HGF_000001" "g.81334828G>A" "" "" "" "HGF(NM_000601.6):c.1888C>T (p.R630*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81705512G>A" "" "VUS" "" "0000277633" "0" "10" "7" "81388042" "81388042" "subst" "0.035635" "02330" "HGF_000009" "g.81388042T>C" "" "" "" "HGF(NM_000601.6):c.333A>G (p.E111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81758726T>C" "" "benign" "" "0000277634" "0" "50" "7" "81399249" "81399288" "del" "0" "02330" "HGF_000007" "g.81399249_81399288del" "" "" "" "HGF(NM_000601.6):c.5_44del (p.W2Sfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81769933_81769972del" "" "VUS" "" "0000277635" "0" "10" "7" "81359051" "81359051" "subst" "0.0458608" "02330" "HGF_000005" "g.81359051C>T" "" "" "" "HGF(NM_000601.6):c.910G>A (p.E304K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81729735C>T" "" "benign" "" "0000285106" "0" "10" "7" "81346685" "81346685" "subst" "0.812207" "02326" "HGF_000003" "g.81346685T>C" "" "" "" "HGF(NM_000601.6):c.1272-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81717369T>C" "" "benign" "" "0000289047" "0" "30" "7" "81358953" "81358953" "subst" "0.00170994" "01943" "HGF_000004" "g.81358953C>T" "" "" "" "HGF(NM_000601.5):c.1008G>A (p.E336=), HGF(NM_000601.6):c.1008G>A (p.E336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81729637C>T" "" "likely benign" "" "0000338807" "0" "10" "7" "81346685" "81346685" "subst" "0.812207" "02327" "HGF_000003" "g.81346685T>C" "" "" "" "HGF(NM_000601.6):c.1272-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.81717369T>C" "" "benign" "" "0000532715" "0" "30" "7" "81334825" "81334825" "subst" "0.000587156" "02330" "HGF_000010" "g.81334825C>T" "" "" "" "HGF(NM_000601.6):c.1891G>A (p.V631M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81705509C>T" "" "likely benign" "" "0000532716" "0" "50" "7" "81346640" "81346640" "subst" "0" "02330" "HGF_000011" "g.81346640T>A" "" "" "" "HGF(NM_000601.6):c.1313A>T (p.N438I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81717324T>A" "" "VUS" "" "0000532717" "0" "50" "7" "81374362" "81374362" "subst" "4.06643E-6" "02330" "HGF_000012" "g.81374362G>A" "" "" "" "HGF(NM_000601.6):c.700C>T (p.R234C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81745046G>A" "" "VUS" "" "0000532718" "0" "50" "7" "81381564" "81381564" "subst" "8.17227E-6" "01943" "HGF_000013" "g.81381564C>T" "" "" "" "HGF(NM_000601.5):c.497G>A (p.S166N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81752248C>T" "" "VUS" "" "0000532719" "0" "30" "7" "81386630" "81386630" "subst" "8.15282E-5" "02330" "HGF_000014" "g.81386630A>G" "" "" "" "HGF(NM_000601.6):c.368-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81757314A>G" "" "likely benign" "" "0000532720" "0" "30" "7" "81392140" "81392140" "subst" "0.00176748" "02330" "HGF_000015" "g.81392140G>A" "" "" "" "HGF(NM_000601.4):c.137C>T (p.(Ala46Val)), HGF(NM_000601.5):c.137C>T (p.A46V), HGF(NM_000601.6):c.137C>T (p.A46V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81762824G>A" "" "likely benign" "" "0000532721" "0" "50" "7" "81392140" "81392140" "subst" "0.00176748" "01943" "HGF_000015" "g.81392140G>A" "" "" "" "HGF(NM_000601.4):c.137C>T (p.(Ala46Val)), HGF(NM_000601.5):c.137C>T (p.A46V), HGF(NM_000601.6):c.137C>T (p.A46V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81762824G>A" "" "VUS" "" "0000532722" "0" "50" "7" "81399282" "81399282" "subst" "0.000240478" "01943" "HGF_000016" "g.81399282C>A" "" "" "" "HGF(NM_000601.5):c.6G>T (p.W2C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81769966C>A" "" "VUS" "" "0000611208" "0" "30" "7" "81359076" "81359076" "subst" "0.0001544" "02330" "HGF_000017" "g.81359076G>A" "" "" "" "HGF(NM_000601.5):c.885C>T (p.D295=), HGF(NM_000601.6):c.885C>T (p.D295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.81729760G>A" "" "likely benign" "" "0000640320" "1" "99" "7" "81334816" "81334816" "subst" "0" "00004" "HGF_000018" "g.81334816G>A" "" "{DB:DVD}, {PMID:Finegold 2008:18564920}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81705500G>A" "" "pathogenic" "" "0000640321" "1" "55" "7" "81334825" "81334825" "subst" "0.000587156" "00004" "HGF_000010" "g.81334825C>T" "" "{DB:DVD}, {PMID:Finegold 2008:18564920}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81705509C>T" "" "VUS" "" "0000640322" "1" "99" "7" "81334828" "81334828" "subst" "8.15541E-6" "00004" "HGF_000001" "g.81334828G>A" "" "{DB:DVD}, {PMID:Finegold 2008:18564920}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81705512G>A" "" "pathogenic" "" "0000640323" "1" "55" "7" "81339550" "81339550" "subst" "0" "00004" "HGF_000019" "g.81339550A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81710234A>G" "" "VUS" "" "0000640324" "1" "33" "7" "81355345" "81355345" "subst" "0.000300569" "00004" "HGF_000020" "g.81355345A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81726029A>G" "" "likely benign" "" "0000640325" "1" "11" "7" "81358953" "81358953" "subst" "0.00170994" "00004" "HGF_000004" "g.81358953C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81729637C>T" "" "benign" "" "0000640326" "1" "55" "7" "81358978" "81358978" "subst" "0" "00004" "HGF_000021" "g.81358978C>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81729662C>A" "" "VUS" "" "0000640327" "1" "55" "7" "81372256" "81372256" "dup" "0" "00004" "HGF_000022" "g.81372256dup" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81742940dup" "" "VUS" "" "0000640328" "1" "99" "7" "81372670" "81372670" "subst" "0" "00004" "HGF_000023" "g.81372670G>T" "" "{DB:DVD}, {PMID:Finegold 2008:18564920}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81743354G>T" "" "pathogenic" "" "0000640329" "1" "55" "7" "81374380" "81374380" "subst" "0.000162615" "00004" "HGF_000006" "g.81374380A>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81745064A>C" "" "VUS" "" "0000640330" "1" "55" "7" "81374403" "81374403" "subst" "4.87896E-5" "00004" "HGF_000024" "g.81374403C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81745087C>T" "" "VUS" "" "0000640331" "1" "99" "7" "81381566" "81381566" "subst" "4.08707E-6" "00004" "HGF_000025" "g.81381566C>T" "" "{DB:DVD}, {PMID:Schultz 2009:19576567}, {PMID:Shearer 1993:20301607}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.81752250C>T" "" "pathogenic" "" "0000652360" "1" "50" "7" "81334825" "81334825" "subst" "0.000587156" "03575" "HGF_000010" "g.81334825C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs145494248}" "Germline" "" "rs145494248" "0" "" "" "g.81705509C>T" "" "VUS" "" "0000652361" "1" "30" "7" "81359051" "81359051" "subst" "0.0458608" "03575" "HGF_000005" "g.81359051C>T" "59/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "59 heterozygous, no homozygous; {DB:CLININrs5745687}" "Germline" "" "rs5745687" "0" "" "" "g.81729735C>T" "" "likely benign" "" "0000690077" "0" "50" "7" "81334962" "81334962" "subst" "0" "01804" "HGF_000026" "g.81334962C>T" "" "" "" "HGF(NM_000601.4):c.1864+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000837157" "3" "70" "7" "81384522" "81384524" "del" "0" "00000" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Mei 2021:33976695}" "" "482+1986_1988del" "" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "likely pathogenic (recessive)" "ACMG" "0000860915" "0" "30" "7" "81359076" "81359076" "subst" "0.0001544" "01943" "HGF_000017" "g.81359076G>A" "" "" "" "HGF(NM_000601.5):c.885C>T (p.D295=), HGF(NM_000601.6):c.885C>T (p.D295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000887984" "0" "30" "7" "81339571" "81339571" "subst" "0" "02330" "HGF_000028" "g.81339571C>T" "" "" "" "HGF(NM_000601.6):c.1445-12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000909350" "1" "70" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Mei 2021:33976695}" "" "482+1986-1988del" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "likely pathogenic (recessive)" "ACMG" "0000909356" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909357" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909358" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909359" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909360" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909361" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909362" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909363" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909364" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909365" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909366" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909367" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909368" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909369" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909370" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909371" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909372" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909373" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909374" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909375" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909376" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909377" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909378" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909379" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909380" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909381" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909382" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909383" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909384" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909385" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909386" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909387" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909388" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909389" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909390" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909391" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909392" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909393" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "not in 830 white, Indian or Human Diversity Panel control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909394" "3" "90" "7" "81384519" "81384528" "del" "0" "00006" "HGF_000031" "g.81384519_81384528del" "" "{PMID:Schultz 2009:19576567}" "" "482+1991_2000delGATGATGAAA" "not in 1688 control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755203_81755212del" "" "pathogenic (recessive)" "" "0000909395" "3" "90" "7" "81384519" "81384528" "del" "0" "00006" "HGF_000031" "g.81384519_81384528del" "" "{PMID:Schultz 2009:19576567}" "" "482+1991_2000delGATGATGAAA" "not in 1688 control chromosomes; variant suggested to dysregulate HGF expression" "Germline" "yes" "" "0" "" "" "g.81755203_81755212del" "" "pathogenic (recessive)" "" "0000909396" "3" "90" "7" "81381566" "81381566" "subst" "4.08707E-6" "00006" "HGF_000025" "g.81381566C>T" "" "{PMID:Schultz 2009:19576567}" "" "S165S, NM_001010932:c.483-3G>A" "not in 1040 control chromosomes; causes shift in balance altrnatively spliced transcripts" "Germline" "yes" "" "0" "" "" "g.81752250C>T" "" "pathogenic (recessive)" "" "0000909397" "1" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "2/858 control chromosomes Pakistan" "{PMID:Schultz 2009:19576567}" "" "482+1986_1988delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000909398" "3" "10" "7" "81355449" "81355449" "subst" "0" "00006" "HGF_000029" "g.81355449T>A" "" "{PMID:Schultz 2009:19576567}" "" "" "shared haplotype" "Germline" "" "rs2286194" "0" "" "" "g.81726133T>A" "" "benign" "" "0000909399" "3" "10" "7" "81335460" "81335460" "subst" "0" "00006" "HGF_000030" "g.81335460C>G" "" "{PMID:Schultz 2009:19576567}" "" "" "shared haplotype" "Germline" "" "rs5745752" "0" "" "" "g.81706144C>G" "" "benign" "" "0000944063" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944064" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944065" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944066" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944067" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944068" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944069" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944070" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944071" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944072" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944073" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944074" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944075" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944076" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944077" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944078" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944079" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944080" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944081" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944082" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944083" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944084" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944085" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944086" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944087" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944088" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Richard 2019: 30303587}" "" "482+1986_88delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000944089" "3" "90" "7" "81384519" "81384528" "del" "0" "00006" "HGF_000031" "g.81384519_81384528del" "" "{PMID:Richard 2019: 30303587}" "" "482 +1991_2000delGATGATGAAA" "" "Germline" "" "" "0" "" "" "g.81755203_81755212del" "" "pathogenic (recessive)" "" "0000944518" "3" "90" "7" "81384522" "81384524" "del" "0" "00006" "HGF_000027" "g.81384522_81384524del" "" "{PMID:Schultz 2009:19576567}, {PMID:Naz 2017:27573290}" "" "482+1986_1988delTGA" "" "Germline" "" "" "0" "" "" "g.81755206_81755208del" "" "pathogenic (recessive)" "" "0000972011" "3" "50" "7" "81332048" "81332048" "subst" "0" "04656" "HGF_000032" "g.81332048C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.81702732C>T" "" "VUS" "" "0000996669" "0" "50" "7" "81372705" "81372705" "subst" "0" "01804" "HGF_000033" "g.81372705G>A" "" "" "" "HGF(NM_000601.4):c.829C>T (p.(His277Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000996670" "0" "30" "7" "81392140" "81392140" "subst" "0.00176748" "01804" "HGF_000015" "g.81392140G>A" "" "" "" "HGF(NM_000601.4):c.137C>T (p.(Ala46Val)), HGF(NM_000601.5):c.137C>T (p.A46V), HGF(NM_000601.6):c.137C>T (p.A46V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes HGF ## Count = 115 "{{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}}" "0000246583" "00009300" "10" "711" "0" "711" "0" "c.711T>C" "r.(?)" "p.(His237=)" "" "0000246637" "00009300" "30" "682" "0" "682" "0" "c.682T>G" "r.(?)" "p.(Ser228Ala)" "" "0000256676" "00009300" "50" "1537" "0" "1537" "0" "c.1537T>C" "r.(?)" "p.(Tyr513His)" "" "0000277630" "00009300" "10" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Glu336=)" "" "0000277631" "00009300" "10" "1272" "-4" "1272" "-4" "c.1272-4A>G" "r.spl?" "p.?" "" "0000277632" "00009300" "50" "1888" "0" "1888" "0" "c.1888C>T" "r.(?)" "p.(Arg630Ter)" "" "0000277633" "00009300" "10" "333" "0" "333" "0" "c.333A>G" "r.(?)" "p.(Glu111=)" "" "0000277634" "00009300" "50" "5" "0" "44" "0" "c.5_44del" "r.(?)" "p.(Trp2SerfsTer36)" "" "0000277635" "00009300" "10" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Glu304Lys)" "" "0000285106" "00009300" "10" "1272" "-4" "1272" "-4" "c.1272-4A>G" "r.spl?" "p.?" "" "0000289047" "00009300" "30" "1008" "0" "1008" "0" "c.1008G>A" "r.(?)" "p.(Glu336=)" "" "0000338807" "00009300" "10" "1272" "-4" "1272" "-4" "c.1272-4A>G" "r.spl?" "p.?" "" "0000532715" "00009300" "30" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Val631Met)" "" "0000532716" "00009300" "50" "1313" "0" "1313" "0" "c.1313A>T" "r.(?)" "p.(Asn438Ile)" "" "0000532717" "00009300" "50" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Arg234Cys)" "" "0000532718" "00009300" "50" "497" "0" "497" "0" "c.497G>A" "r.(?)" "p.(Ser166Asn)" "" "0000532719" "00009300" "30" "368" "-11" "368" "-11" "c.368-11T>C" "r.(=)" "p.(=)" "" "0000532720" "00009300" "30" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Ala46Val)" "" "0000532721" "00009300" "50" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Ala46Val)" "" "0000532722" "00009300" "50" "6" "0" "6" "0" "c.6G>T" "r.(?)" "p.(Trp2Cys)" "" "0000611208" "00009300" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Asp295=)" "" "0000640320" "00009300" "99" "1900" "0" "1900" "0" "c.1900C>T" "r.(?)" "p.(Leu634Phe)" "17" "0000640321" "00009300" "55" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Val631Met)" "17" "0000640322" "00009300" "99" "1888" "0" "1888" "0" "c.1888C>T" "r.(?)" "p.(Arg630*)" "17" "0000640323" "00009300" "55" "1454" "0" "1454" "0" "c.1454T>C" "r.(?)" "p.(Ile485Thr)" "13" "0000640324" "00009300" "33" "1041" "-12" "1041" "-12" "c.1041-12T>C" "r.(=)" "p.(=)" "8i" "0000640325" "00009300" "11" "1008" "0" "1008" "0" "c.1008G>A" "r.(=)" "p.(=)" "8" "0000640326" "00009300" "55" "983" "0" "983" "0" "c.983G>T" "r.(?)" "p.(Arg328Leu)" "8" "0000640327" "00009300" "55" "865" "413" "865" "413" "c.865+413dup" "r.(=)" "p.(=)" "7i" "0000640328" "00009300" "99" "864" "0" "864" "0" "c.864C>A" "r.(?)" "p.(Cys288*)" "7" "0000640329" "00009300" "55" "682" "0" "682" "0" "c.682T>G" "r.(?)" "p.(Ser228Ala)" "6" "0000640330" "00009300" "55" "659" "0" "659" "0" "c.659G>A" "r.(?)" "p.(Arg220Gln)" "6" "0000640331" "00009300" "99" "495" "0" "495" "0" "c.495G>A" "r.(=)" "p.(=)" "5" "0000652360" "00009300" "50" "1891" "0" "1891" "0" "c.1891G>A" "r.(?)" "p.(Val631Met)" "" "0000652361" "00009300" "30" "910" "0" "910" "0" "c.910G>A" "r.(?)" "p.(Glu304Lys)" "" "0000690077" "00009300" "50" "1864" "1" "1864" "1" "c.1864+1G>A" "r.spl?" "p.?" "" "0000837157" "00009300" "70" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000860915" "00009300" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Asp295=)" "" "0000887984" "00009300" "30" "1445" "-12" "1445" "-12" "c.1445-12G>A" "r.(=)" "p.(=)" "" "0000909350" "00009300" "70" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000909356" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909357" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909358" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909359" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909360" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909361" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909362" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909363" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909364" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909365" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909366" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909367" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909368" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909369" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909370" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909371" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909372" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909373" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909374" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909375" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909376" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909377" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909378" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909379" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909380" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909381" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909382" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909383" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909384" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909385" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909386" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909387" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909388" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909389" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909390" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909391" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909392" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909393" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909394" "00009300" "90" "482" "1991" "482" "2000" "c.482+1991_482+2000del" "r.?" "p.?" "4i" "0000909395" "00009300" "90" "482" "1991" "482" "2000" "c.482+1991_482+2000del" "r.?" "p.?" "4i" "0000909396" "00009300" "90" "495" "0" "495" "0" "c.495G>A" "r.483_497del" "p.Phe162_Ser166del" "5" "0000909397" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "4i" "0000909398" "00009300" "10" "1041" "-116" "1041" "-116" "c.1041-116A>T" "r.(?)" "p.(=)" "" "0000909399" "00009300" "10" "1757" "143" "1757" "143" "c.1757+143G>C" "r.(?)" "p.(=)" "" "0000944063" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944064" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944065" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944066" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944067" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944068" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944069" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944070" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944071" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944072" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944073" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944074" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944075" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944076" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944077" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944078" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944079" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944080" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944081" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944082" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944083" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944084" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944085" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944086" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944087" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944088" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.?" "p.?" "" "0000944089" "00009300" "90" "482" "1991" "482" "2000" "c.482+1991_482+2000del" "r.?" "p.?" "" "0000944518" "00009300" "90" "482" "1986" "482" "1988" "c.482+1986_482+1988del" "r.spl" "p.?" "" "0000972011" "00009300" "50" "2036" "0" "2036" "0" "c.2036G>A" "r.(?)" "p.(Cys679Tyr)" "18" "0000996669" "00009300" "50" "829" "0" "829" "0" "c.829C>T" "r.(?)" "p.(His277Tyr)" "" "0000996670" "00009300" "30" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Ala46Val)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 89 "{{screeningid}}" "{{variantid}}" "0000284578" "0000640320" "0000284579" "0000640321" "0000284580" "0000640322" "0000284581" "0000640323" "0000284582" "0000640324" "0000284583" "0000640325" "0000284584" "0000640326" "0000284585" "0000640327" "0000284586" "0000640328" "0000284587" "0000640329" "0000284588" "0000640330" "0000284589" "0000640331" "0000295671" "0000652360" "0000295672" "0000652361" "0000402878" "0000837157" "0000402879" "0000909350" "0000429740" "0000909356" "0000429741" "0000909357" "0000429742" "0000909358" "0000429743" "0000909359" "0000429744" "0000909360" "0000429745" "0000909361" "0000429746" "0000909362" "0000429747" "0000909363" "0000429748" "0000909364" "0000429749" "0000909365" "0000429750" "0000909366" "0000429751" "0000909367" "0000429752" "0000909368" "0000429753" "0000909369" "0000429754" "0000909370" "0000429754" "0000909398" "0000429754" "0000909399" "0000429755" "0000909371" "0000429756" "0000909372" "0000429757" "0000909373" "0000429758" "0000909374" "0000429759" "0000909375" "0000429760" "0000909376" "0000429761" "0000909377" "0000429762" "0000909378" "0000429763" "0000909379" "0000429764" "0000909380" "0000429765" "0000909381" "0000429766" "0000909382" "0000429767" "0000909383" "0000429768" "0000909384" "0000429769" "0000909385" "0000429770" "0000909386" "0000429771" "0000909387" "0000429772" "0000909388" "0000429773" "0000909389" "0000429774" "0000909390" "0000429775" "0000909391" "0000429776" "0000909392" "0000429777" "0000909393" "0000429778" "0000909394" "0000429779" "0000909395" "0000429780" "0000909396" "0000429781" "0000909397" "0000442736" "0000944063" "0000442737" "0000944064" "0000442738" "0000944065" "0000442739" "0000944066" "0000442740" "0000944067" "0000442741" "0000944068" "0000442742" "0000944069" "0000442743" "0000944070" "0000442744" "0000944071" "0000442745" "0000944072" "0000442746" "0000944073" "0000442747" "0000944074" "0000442748" "0000944075" "0000442749" "0000944076" "0000442750" "0000944077" "0000442751" "0000944078" "0000442752" "0000944079" "0000442753" "0000944080" "0000442754" "0000944081" "0000442755" "0000944082" "0000442756" "0000944083" "0000442757" "0000944084" "0000442758" "0000944085" "0000442759" "0000944086" "0000442760" "0000944087" "0000442761" "0000944088" "0000442762" "0000944089" "0000443136" "0000944518" "0000450080" "0000972011"