### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = GRM6) # 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}}" "GRM6" "glutamate receptor, metabotropic 6" "5" "q35" "unknown" "NG_008105.1" "UD_132118704027" "" "https://www.LOVD.nl/GRM6" "" "1" "4598" "2916" "604096" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GRM6_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00000" "2012-07-06 00:00:00" "00006" "2017-02-04 22:00:32" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001597" "GRM6" "glutamate receptor, metabotropic 6" "001" "NM_000843.3" "" "NP_000834.2" "" "" "" "-179" "5964" "2634" "178405328" "178422124" "00000" "2012-09-13 13:41:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01976" "CSNB1B" "blindness, night, stationary, congenital, type 1B (CSNB-1B)" "AR" "257270" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05130" "CSNB" "blindness, night, stationary, congenital (CSNB)" "" "" "" "" "" "00006" "2016-02-03 23:24:36" "" "" "05321" "MYP2" "myopia, autosomal dominant, type 2 (MYP-2)" "" "160700" "" "" "" "00006" "2017-09-01 15:05:47" "00006" "2021-12-10 21:51:32" "05412" "maculopathy" "maculopathy" "" "" "" "" "" "00006" "2018-03-23 12:21:26" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "GRM6" "01976" ## Individuals ## Do not remove or alter this header ## ## Count = 90 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00059923" "" "" "" "1" "" "00243" "" "1 familie" "M" "yes" "India" "" "0" "" "" "Indian" "" "00100090" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "F" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61155" "00100095" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61170" "00100096" "" "" "" "1" "" "01769" "{PMID:Li 2017:28418496}" "" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "61172" "00144156" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" "" "00293824" "" "" "" "162" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293825" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293826" "" "" "" "120" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293827" "" "" "" "68" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305026" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305027" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305028" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00308708" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00327461" "" "" "" "1" "" "03980" "Doucette 2021, submitted" "Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted." "M" "" "Canada" "" "" "Yes" "" "" "M68 II-1" "00328055" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G001436" "00328294" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-South" "W000165" "00328474" "" "" "" "1" "" "00000" "{PMID:Taylor 2017:28341476}" "no family history retinal disease" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "15020397" "00333353" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat9" "00333364" "" "" "" "1" "" "00000" "{PMID:Costa 2017:28912962}" "" "F" "" "Brazil" "" "0" "" "" "" "Pat4" "00334966" "" "" "" "1" "" "00000" "{PMID:Jin 2017:28373534}" "" "" "" "China" "" "0" "" "" "" "H33" "00358958" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case71471" "00358971" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case70946" "00358972" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "M" "" "Switzerland" "" "0" "" "" "" "Case70559" "00362232" "" "" "" "1" "" "04043" "{PMID:Fadaie 2021:34795310}" "" "F" "" "Netherlands" "" "0" "" "" "" "Pat14" "00363458" "" "" "" "1" "" "00000" "{PMID:Ge 2015:26667666}" "simplex case" "" "" "United States" "" "0" "" "" "" "UFC+7.74" "00375386" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "Belgium" "" "0" "" "" "" "" "00375387" "" "" "" "1" "" "00000" "{PMID:Zeitz 2015:25307992}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00376554" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376598" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "SNP or modifier" "" "" "Switzerland" "" "0" "" "" "" "" "00376637" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00376638" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00376639" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376640" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376641" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "SNP or modifier" "" "" "Germany" "" "0" "" "" "" "" "00376642" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germany" "" "0" "" "" "" "" "00376643" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "Netherlands" "" "0" "" "" "" "" "00376644" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376645" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "F" "" "Germany" "" "0" "" "" "" "" "00376646" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376647" "" "" "" "1" "" "00000" "{PMID:Zeitz-2009:19578023}" "" "" "" "" "" "0" "" "" "" "" "00376853" "" "" "" "1" "" "00000" "{PMID:Malaichamy 2014:24715752}" "see paper" "" "" "India" "" "0" "" "" "" "Pat8" "00379599" "" "" "" "1" "" "00000" "{PMID:Wang-2012:22735794}" "" "F" "" "China" "" "0" "" "" "" "" "00379600" "" "" "" "1" "" "00000" "{PMID:Wang-2012:22735794}" "" "F" "" "China" "" "0" "" "" "" "" "00379630" "" "" "" "1" "" "00000" "{PMID:Godara-2012:22959359}" "" "F" "" "" "" "0" "" "" "" "" "00379631" "" "" "" "1" "" "00000" "{PMID:Godara-2012:22959359}" "" "F" "" "" "" "0" "" "" "" "" "00379632" "" "" "" "1" "" "00000" "{PMID:Godara-2012:22959359}" "" "F" "" "" "" "0" "" "" "" "" "00381254" "" "" "" "2" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "F" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381255" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00381256" "" "" "" "1" "" "00008" "{PMID:Bijveld-2013:23714322}" "" "M" "" "Netherlands" "" "0" "" "" "Dutch" "" "00382310" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "139" "00382550" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "412" "00384145" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2633" "00384234" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "12110" "00384287" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "M" "" "China" "" "0" "" "" "" "13427" "00384384" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31106028}" "" "F" "" "China" "" "0" "" "" "" "14128" "00386875" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "121-056" "00386907" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI678_001361" "00388497" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14016318" "00389067" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 118, congenital stationary night blindness, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "351" "00390273" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "G001436" "00390274" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "W000165" "00415086" "" "" "" "1" "" "04364" "" "3 generation family, parents unaffected heterozygous carriers" "F" "yes" "India" ">18y" "0" "yes" "none" "Asian" "" "00415087" "" "" "" "1" "" "04364" "" "" "F" "no" "India" ">05y" "" "yes" "none" "Asian" "" "00415564" "" "" "" "1" "" "00000" "{PMID:Dryja 2005:15781871}" "" "M" "" "(United States)" "" "0" "" "" "" "274-011" "00415565" "" "" "" "1" "" "00000" "{PMID:Dryja 2005:15781871}" "" "M" "" "(United States)" "" "0" "" "" "" "063-007" "00415566" "" "" "" "1" "" "00000" "{PMID:Dryja 2005:15781871}" "" "F" "" "(United States)" "" "0" "" "" "" "274-021" "00415567" "" "" "" "1" "" "00000" "{PMID:O\'Connor 2006:16622103}" "" "F" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00415568" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2012:22008250}" "" "M" "" "" "" "0" "" "" "" "Subject 1" "00415569" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2012:22008250}" "" "F" "" "" "" "0" "" "" "" "Subject 2" "00415570" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2012:22008250}" "" "F" "" "" "" "0" "" "" "" "Subject 3" "00415571" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2012:22008250}" "" "F" "" "" "" "0" "" "" "" "Subject 4" "00415572" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2012:22008250}" "" "F" "" "" "" "0" "" "" "" "Subject 5" "00415573" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2012:22008250}" "" "F" "" "" "" "0" "" "" "" "Subject 6" "00415574" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2012:22008250}" "" "F" "" "" "" "0" "" "" "" "Subject 7" "00415575" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2012:22008250}" "" "M" "" "" "" "0" "" "" "" "Subject 8" "00415576" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2012:22008250}" "" "F" "" "" "" "0" "" "" "" "Subject 9" "00415577" "" "" "" "1" "" "00000" "{PMID:Naeem-2015:26628857}" "" "M" "yes" "" "" "0" "" "" "pakistani" "14" "00415578" "" "" "" "1" "" "00000" "{PMID:Naeem-2015:26628857}" "" "M" "yes" "" "" "0" "" "" "pakistani" "16" "00415579" "" "" "" "1" "" "00000" "{PMID:Naeem-2015:26628857}" "" "M" "yes" "" "" "0" "" "" "pakistani" "14" "00415580" "" "" "" "1" "" "00000" "{PMID:Naeem-2015:26628857}" "" "F" "yes" "" "" "0" "" "" "pakistani" "18" "00415581" "" "" "" "1" "" "00000" "{PMID:Naeem-2015:26628857}" "" "F" "yes" "" "" "0" "" "" "pakistani" "19" "00415582" "" "" "" "1" "" "00000" "{PMID:Naeem-2015:26628857}" "" "F" "yes" "" "" "0" "" "" "pakistani" "10" "00415583" "" "" "" "1" "" "00000" "{PMID:Naeem-2015:26628857}" "" "M" "yes" "" "" "0" "" "" "pakistani" "15" "00415584" "" "" "" "1" "" "00000" "{PMID:Tourville-2019:31063016}" "" "F" "yes" "" "" "0" "" "" "" "II-2" "00415585" "" "" "" "1" "" "00000" "{PMID:Tourville-2019:31063016}" "" "M" "yes" "" "" "0" "" "" "" "II-1" "00415586" "" "" "" "1" "" "00000" "{PMID:Liu-2019:31677249}" "" "M" "" "" "" "0" "" "" "" "II3" "00415587" "" "" "" "1" "" "00000" "{PMID:Liu-2019:31677249}" "" "F" "" "" "" "0" "" "" "" "III3" "00415588" "" "" "" "1" "" "00000" "{PMID:Liu-2019:31677249}" "" "M" "" "" "" "0" "" "" "" "III4" "00435099" "" "" "" "1" "" "04364" "" "Heterozygous carrier parents" "M" "no" "India" ">30y" "" "Yes" "" "Asian" "Fam_17_GRM6" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 90 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00059923" "01976" "00100090" "05130" "00100095" "05130" "00100096" "05130" "00144156" "04214" "00293824" "00198" "00293825" "00198" "00293826" "00198" "00293827" "00198" "00305026" "00198" "00305027" "00198" "00305028" "00198" "00308708" "00000" "00327461" "05412" "00328055" "04214" "00328294" "04214" "00328474" "04214" "00333353" "04214" "00333364" "04214" "00334966" "00198" "00358958" "04214" "00358971" "04214" "00358972" "04214" "00362232" "04214" "00363458" "04214" "00375386" "04214" "00375387" "04214" "00376554" "04214" "00376598" "04214" "00376637" "04214" "00376638" "04214" "00376639" "04214" "00376640" "04214" "00376641" "04214" "00376642" "04214" "00376643" "04214" "00376644" "04214" "00376645" "04214" "00376646" "04214" "00376647" "04214" "00376853" "04214" "00379599" "04214" "00379600" "04214" "00379630" "04214" "00379631" "04214" "00379632" "04214" "00381254" "04214" "00381255" "04214" "00381256" "04214" "00382310" "04214" "00382550" "04214" "00384145" "04214" "00384234" "04214" "00384287" "05321" "00384384" "04214" "00386875" "04214" "00386907" "04214" "00388497" "04214" "00389067" "04214" "00390273" "04214" "00390274" "04214" "00415086" "05130" "00415087" "05130" "00415564" "04214" "00415565" "04214" "00415566" "04214" "00415567" "04214" "00415568" "04214" "00415569" "04214" "00415570" "04214" "00415571" "04214" "00415572" "04214" "00415573" "04214" "00415574" "04214" "00415575" "04214" "00415576" "04214" "00415577" "04214" "00415578" "04214" "00415579" "04214" "00415580" "04214" "00415581" "04214" "00415582" "04214" "00415583" "04214" "00415584" "04214" "00415585" "04214" "00415586" "04214" "00415587" "04214" "00415588" "04214" "00435099" "05130" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 01157, 01976, 04214, 05130, 05321, 05412 ## Count = 82 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000046415" "01976" "00059923" "00243" "Familial, autosomal recessive" "" "" "0m" "40y" "" "" "" "" "" "" "" "" "" "0000078329" "05130" "00100090" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078334" "05130" "00100095" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000078335" "05130" "00100096" "01769" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000116934" "04214" "00144156" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000245750" "05412" "00327461" "03980" "Familial, autosomal recessive" "15y" "Fundus: No specific findings\r\n\r\nOCT: Normal\r\n\r\nERG:Central loss on multi-focal electroretinogram (abnormal ERG HP:0000512)\r\n\r\n- Reduced Visual Acuity 20/40 OU (HP:0007663)" "" "" "" "" "" "" "" "" "" "" "" "0000246282" "04214" "00328055" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246521" "04214" "00328294" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000246700" "04214" "00328474" "00000" "Familial, autosomal recessive" "15y" "congenital stationary night blindness (HP:0007642)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000251540" "04214" "00333353" "00000" "Familial, autosomal dominant" "27y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000251551" "04214" "00333364" "00000" "Unknown" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000252713" "00198" "00334966" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "high myopia, early-onset" "" "0000254256" "04214" "00358958" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000254269" "04214" "00358971" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000254270" "04214" "00358972" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Best macular dystrophy" "" "0000257646" "04214" "00362232" "04043" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Oguchin disease" "" "0000258819" "04214" "00363458" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270600" "04214" "00375386" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000270601" "04214" "00375387" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000271761" "04214" "00376554" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271805" "04214" "00376598" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271844" "04214" "00376637" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271845" "04214" "00376638" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271846" "04214" "00376639" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271847" "04214" "00376640" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271848" "04214" "00376641" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271849" "04214" "00376642" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271850" "04214" "00376643" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271851" "04214" "00376644" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271852" "04214" "00376645" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271853" "04214" "00376646" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000271854" "04214" "00376647" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000272062" "04214" "00376853" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital stationary night blindness" "" "0000273453" "04214" "00379599" "00008" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000273454" "04214" "00379600" "00008" "Isolated (sporadic)" "2y" "" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000273474" "04214" "00379630" "00008" "Unknown" "30y" "" "" "" "" "" "" "" "" "" "" "Complete congenital stationary night blindness" "" "0000273475" "04214" "00379631" "00008" "Unknown" "13y" "" "" "" "" "" "" "" "" "" "" "Complete congenital stationary night blindness" "" "0000273476" "04214" "00379632" "00008" "Unknown" "32y" "" "" "" "" "" "" "" "" "" "" "Complete congenital stationary night blindness" "" "0000275105" "04214" "00381254" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275106" "04214" "00381255" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000275107" "04214" "00381256" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "Congenital Stationary Night Blindness" "" "0000276159" "04214" "00382310" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000276399" "04214" "00382550" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000277930" "04214" "00384145" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness" "" "0000278019" "04214" "00384234" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "high myopia" "" "0000278072" "05321" "00384287" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "high myopia?" "" "0000278169" "04214" "00384384" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000280675" "04214" "00386875" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000280707" "04214" "00386907" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000282049" "04214" "00388497" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000282608" "04214" "00389067" "00000" "Familial, autosomal recessive" "21y" "age at genetic diagnosis mentioned" "" "15y" "" "" "" "" "" "" "congenital stationary night blindness" "" "" "0000283811" "04214" "00390273" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000283812" "04214" "00390274" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000306887" "05130" "00415086" "04364" "Familial, autosomal recessive" "09y" "" "" "09y" "" "" "" "" "" "" "CSNB" "?CSNB ?Oguchi" "" "0000306888" "05130" "00415087" "04364" "Familial, autosomal recessive" "05y" "" "" "05y" "" "" "" "" "" "" "CSNB" "CSNB" "" "0000307344" "04214" "00415564" "00000" "Unknown" "37y" "Refractive error -0.25; VA(OD;OS): 20/20;20/20" "" "" "" "" "" "" "" "" "" "congenital night blindness" "" "0000307345" "04214" "00415565" "00000" "Unknown" "31y" "Refractive error -4.62; VA(OD;OS): 20/40;20/40" "" "" "" "" "" "" "" "" "" "congenital night blindness" "" "0000307346" "04214" "00415566" "00000" "Unknown" "14y" "Refractive error -5.38; VA(OD;OS): 20/25;20/30" "" "" "" "" "" "" "" "" "" "congenital night blindness" "" "0000307347" "04214" "00415567" "00000" "Unknown" "7y" "poor night vision and horizontal nystagmus since early infancy; myopic astigmatism" "" "" "" "" "" "" "" "" "" "Congenital stationary night blindness (CSNB)" "" "0000307348" "04214" "00415568" "00000" "Familial, autosomal recessive" "75y" "Refractive error: OD(-16.50?-1.00x110) - OS(-17); VA: OD(0.36) - OS(3); nystagmus" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307349" "04214" "00415569" "00000" "Familial, autosomal recessive" "58y" "Refractive error: OD(-12.00?-2.00x7) - OS(-11.00?-2.00x150); VA: OD(1.78*) - OS(0.80*); nystagmus" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307350" "04214" "00415570" "00000" "Familial, autosomal recessive" "30y" "Refractive error: OD(-1.00?-1.25x105) - OS(-0.50?-2.50x50); VA: OD(0.18*) - OS(0.18*)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307351" "04214" "00415571" "00000" "Familial, autosomal recessive" "11y" "Refractive error: OD(-0.50?-1.00x80) - OS(-0.50?-1.50x105); VA: OD(0.2) - OS(0); nystagmus" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307352" "04214" "00415572" "00000" "Familial, autosomal recessive" "10y" "Refractive error: OD(-7.00?-3.50x10) - OS(-7.00?-1.75x175); VA: OD(0.20*) - OS(0.18*)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307353" "04214" "00415573" "00000" "Familial, autosomal recessive" "7y" "Refractive error: OD(-4.50?-2.75x20) - OS(-6.00?-2.00x180); VA: OD(0.08) - OS(0.14)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307354" "04214" "00415574" "00000" "Familial, autosomal recessive" "9y" "Refractive error: OD(-3.50?-3.50x180) - OS(-3.50?-4.00x180); VA: OD(0.58) - OS(0.28); nystagmus" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307355" "04214" "00415575" "00000" "Familial, autosomal recessive" "8y" "Refractive error: OD(-4.25?-1.50x175) - OS(-2.50?-1.00x180); VA: OD(0.54) - OS(0.2)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307356" "04214" "00415576" "00000" "Familial, autosomal recessive" "7y" "Refractive error: OD(+0.25?-0.75x25) - OS(+0.25?-1.50x160); VA: OD(0.22) - OS(0.2); nystagmus" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307357" "04214" "00415577" "00000" "Familial, autosomal recessive" "65y" "VA: 6/60OD -6/60OS" "" "" "night blindness" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307358" "04214" "00415578" "00000" "Familial, autosomal recessive" "35y" "VA: 6/6OD - 6/6OS; astigmatism/ hyperopia" "" "" "night blindness" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307359" "04214" "00415579" "00000" "Familial, autosomal recessive" "40y" "VA: 6/9OD - 6/12OS; astigmatism/ hyperopia" "" "" "night blindness" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307360" "04214" "00415580" "00000" "Familial, autosomal recessive" "25y" "VA: counting fingers" "" "" "night blindness" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307361" "04214" "00415581" "00000" "Familial, autosomal recessive" "22y" "VA: counting fingers" "" "" "night blindness" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307362" "04214" "00415582" "00000" "Familial, autosomal recessive" "32y" "VA: 6/36OD - counting fingers OS" "" "" "night blindness" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307363" "04214" "00415583" "00000" "Familial, autosomal recessive" "23y" "VA: 6/6OD - 6/6OS; hyperopia" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307364" "04214" "00415584" "00000" "Familial, autosomal recessive" "" "Her visual acuity reached 9/10 for the right eye with -1.75(-1.75 at 155°) and 10/10 for the left eye with -2.75(-1.5 at 20°). (see paper)" "" "" "" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307365" "04214" "00415585" "00000" "Familial, autosomal recessive" "" "myopia and astigmatism but also a small angle esotropia with a moderate left eye amblyopia at 3/10. The cycloplegic refraction was ?1.75 (?1.75 at 155°) for the right eye and ?2.75 (?1.50 et 20°) for the left eye" "10y" "" "night blindness" "" "" "" "" "" "" "congenital stationary night blindness (CSNB)" "" "0000307366" "04214" "00415586" "00000" "Familial, autosomal dominant" "" "Pseudodominant inheritance; mild myopia (?1.0 to ?2.0 D) with mild astigmatism; nystagmus and strabismus" "" "" "" "" "" "" "" "" "" "autosomal recessive congenital stationary night blindness (CSNB)" "" "0000307367" "04214" "00415587" "00000" "Familial, autosomal dominant" "" "Pseudodominant inheritance; mild myopia (?1.0 to ?2.0 D) with mild astigmatism; amblyopia" "" "" "" "" "" "" "" "" "" "autosomal recessive congenital stationary night blindness (CSNB)" "" "0000307368" "04214" "00415588" "00000" "Familial, autosomal dominant" "" "Pseudodominant inheritance; mild myopia (?1.0 to ?2.0 D) with mild astigmatism; amblyopia" "" "" "" "" "" "" "" "" "" "autosomal recessive congenital stationary night blindness (CSNB)" "" "0000325337" "05130" "00435099" "04364" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CSNB" "CSNB" "" ## Screenings ## Do not remove or alter this header ## ## Count = 90 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000059910" "00059923" "1" "00243" "00243" "2013-07-16 12:51:24" "" "" "SEQ" "DNA" "" "" "0000100493" "00100090" "1" "01769" "01769" "2017-01-30 18:13:33" "" "" "SEQ" "DNA" "WBC" "" "0000100498" "00100095" "1" "01769" "01769" "2017-01-30 18:37:33" "" "" "SEQ" "DNA" "WBC" "" "0000100499" "00100096" "1" "01769" "01769" "2017-01-30 18:41:42" "" "" "SEQ" "DNA" "WBC" "" "0000145015" "00144156" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" "" "0000294992" "00293824" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294993" "00293825" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294994" "00293826" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294995" "00293827" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306155" "00305026" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306156" "00305027" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306157" "00305028" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000309853" "00308708" "1" "00004" "00006" "2020-08-27 15:56:29" "" "" "SEQ;SEQ-NG" "DNA" "" "105 WGS/200 WES" "0000328674" "00327461" "1" "03980" "03980" "2021-01-21 20:49:01" "" "" "SEQ-NG" "DNA" "" "" "0000329270" "00328055" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329509" "00328294" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS" "0000329689" "00328474" "1" "00000" "00006" "2021-01-28 09:35:56" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000334578" "00333353" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000334589" "00333364" "1" "00000" "00006" "2021-02-25 10:13:46" "" "" "SEQ-NG" "DNA" "" "132-gene panel" "0000336197" "00334966" "1" "00000" "00006" "2021-03-02 16:14:24" "" "" "SEQ-NG" "DNA" "" "WES" "0000360195" "00358958" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360208" "00358971" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000360209" "00358972" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES" "0000363461" "00362232" "1" "04043" "00006" "2021-04-16 13:26:31" "" "" "SEQ-NG" "DNA" "" "" "0000364686" "00363458" "1" "00000" "00006" "2021-04-27 10:42:53" "" "" "SEQ-NG" "DNA" "" "195-gene panel" "0000376583" "00375386" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000376584" "00375387" "1" "00000" "00006" "2021-06-03 10:21:34" "" "" "SEQ" "DNA" "" "" "0000377759" "00376554" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377803" "00376598" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377842" "00376637" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377843" "00376638" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377844" "00376639" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377845" "00376640" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377846" "00376641" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377847" "00376642" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377848" "00376643" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377849" "00376644" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377850" "00376645" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "SEQ; arraySEQ" "DNA" "" "" "0000377851" "00376646" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000377852" "00376647" "1" "00000" "00008" "2021-06-25 02:22:54" "" "" "arraySEQ" "DNA" "" "" "0000378058" "00376853" "1" "00000" "00006" "2021-06-25 16:50:55" "" "" "SEQ" "DNA" "" "5-gene panel" "0000380798" "00379599" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000380799" "00379600" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000380829" "00379630" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000380830" "00379631" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000380831" "00379632" "1" "00000" "00008" "2021-08-06 03:44:17" "" "" "SEQ" "DNA" "blood" "" "0000382469" "00381254" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382470" "00381255" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000382471" "00381256" "1" "00009" "00008" "2021-08-27 03:00:16" "" "" "PCR;SEQ" "DNA" "blood" "" "0000383524" "00382310" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000383764" "00382550" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data" "0000385370" "00384145" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000385459" "00384234" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385512" "00384287" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000385609" "00384384" "1" "00000" "03840" "2021-09-29 13:19:55" "" "" "SEQ-NG" "DNA" "blood" "panel of 126 genes" "0000388103" "00386875" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000388135" "00386907" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000389738" "00388497" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing" "0000390310" "00389067" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET5 targeted sequencing panel - see paper" "0000391514" "00390273" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000391515" "00390274" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing" "0000416367" "00415086" "1" "04364" "04364" "2022-08-08 08:55:12" "" "" "SEQ-NG" "DNA" "" "" "0000416368" "00415087" "1" "04364" "04364" "2022-08-08 09:33:25" "" "" "SEQ-NG" "DNA" "" "" "0000429280" "00415564" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "?" "DNA" "" "" "0000429281" "00415565" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "?" "DNA" "" "" "0000429282" "00415566" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "?" "DNA" "" "" "0000429283" "00415567" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "?" "DNA" "" "" "0000429284" "00415568" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "arraySNP" "DNA" "blood" "" "0000429285" "00415569" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "arraySNP" "DNA" "blood" "" "0000429286" "00415570" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "arraySNP" "DNA" "blood" "" "0000429287" "00415571" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "arraySNP" "DNA" "blood" "" "0000429288" "00415572" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "arraySNP" "DNA" "blood" "" "0000429289" "00415573" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "arraySNP" "DNA" "blood" "" "0000429290" "00415574" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "arraySNP" "DNA" "blood" "" "0000429291" "00415575" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "arraySNP" "DNA" "blood" "" "0000429292" "00415576" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "arraySNP" "DNA" "blood" "" "0000429293" "00415577" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ" "DNA" "blood" "bidirectional sequence" "0000429294" "00415578" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ" "DNA" "blood" "bidirectional sequence" "0000429295" "00415579" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ" "DNA" "blood" "bidirectional sequence" "0000429296" "00415580" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ" "DNA" "blood" "bidirectional sequence" "0000429297" "00415581" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ" "DNA" "blood" "bidirectional sequence" "0000429298" "00415582" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ" "DNA" "blood" "bidirectional sequence" "0000429299" "00415583" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ" "DNA" "blood" "bidirectional sequence" "0000429300" "00415584" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "?" "DNA" "" "" "0000429301" "00415585" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "?" "DNA" "" "" "0000429302" "00415586" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG" "DNA" "" "" "0000429303" "00415587" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG" "DNA" "" "" "0000429304" "00415588" "1" "00000" "00008" "2022-08-15 15:41:08" "" "" "SEQ-NG" "DNA" "" "" "0000436571" "00435099" "1" "04364" "04364" "2023-05-09 19:09:26" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 85 "{{screeningid}}" "{{geneid}}" "0000059910" "GRM6" "0000100493" "GRM6" "0000100498" "GRM6" "0000100499" "GRM6" "0000145015" "EYS" "0000309853" "GRM6" "0000329270" "GRM6" "0000329509" "GRM6" "0000329689" "GRM6" "0000334578" "ROM1" "0000336197" "GRM6" "0000336197" "TPSG1" "0000363461" "GRM6" "0000364686" "GRM6" "0000376583" "GRM6" "0000376584" "GRM6" "0000377759" "GRM6" "0000377759" "NYX" "0000377803" "CACNA1F" "0000377803" "GRM6" "0000377842" "GRM6" "0000377843" "GRM6" "0000377844" "GRM6" "0000377845" "GRM6" "0000377846" "GRM6" "0000377847" "GRM6" "0000377848" "GRM6" "0000377849" "GRM6" "0000377850" "GRM6" "0000377851" "GRM6" "0000377852" "GRM6" "0000378058" "GRM6" "0000380798" "CACNA1F" "0000380798" "GRM6" "0000380798" "NYX" "0000380798" "TRPM1" "0000380799" "CACNA1F" "0000380799" "GRM6" "0000380799" "NYX" "0000380799" "TRPM1" "0000380829" "GRM6" "0000380830" "GRM6" "0000380831" "GRM6" "0000382469" "GRM6" "0000382470" "GRM6" "0000382471" "GRM6" "0000383524" "GRM6" "0000383764" "GRM6" "0000385370" "GRM6" "0000385459" "TSPAN12" "0000385512" "FBN1" "0000385609" "GRM6" "0000388103" "GPR98" "0000388135" "CABP4" "0000389738" "GRM6" "0000390310" "GRM6" "0000391514" "GRM6" "0000391515" "GRM6" "0000416367" "GRM6" "0000416368" "GRM6" "0000429280" "GRM6" "0000429281" "GRM6" "0000429282" "GRM6" "0000429283" "GRM6" "0000429284" "GRM6" "0000429285" "GRM6" "0000429286" "GRM6" "0000429287" "GRM6" "0000429288" "GRM6" "0000429289" "GRM6" "0000429290" "GRM6" "0000429291" "GRM6" "0000429292" "GRM6" "0000429293" "GRM6" "0000429294" "GRM6" "0000429295" "GRM6" "0000429296" "GRM6" "0000429297" "GRM6" "0000429298" "GRM6" "0000429299" "GRM6" "0000429300" "GRM6" "0000429301" "GRM6" "0000429302" "GRM6" "0000429303" "GRM6" "0000429304" "GRM6" ## 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 = 267 "{{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}}" "0000012242" "3" "30" "5" "178416288" "178416288" "subst" "0.722546" "00037" "GRM6_000002" "g.178416288G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.178989287G>A" "" "likely benign" "" "0000091161" "3" "90" "5" "178410080" "178410080" "subst" "5.27962E-5" "00243" "GRM6_000001" "g.178410080C>T" "2/228" "" "" "" "" "Germline" "" "" "0" "" "" "g.178983079C>T" "" "pathogenic" "" "0000162792" "3" "90" "5" "178418458" "178418458" "subst" "2.03041E-5" "01769" "GRM6_000003" "g.178418458C>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.178991457C>T" "" "pathogenic" "" "0000162797" "3" "90" "5" "178415954" "178415954" "subst" "1.64247E-5" "01769" "GRM6_000004" "g.178415954G>A" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.178988953G>A" "" "pathogenic" "" "0000162798" "3" "90" "5" "178410080" "178410080" "subst" "5.27962E-5" "01769" "GRM6_000001" "g.178410080C>T" "" "{PMID:Li 2017:28418496}" "" "" "" "Germline" "yes" "" "0" "" "" "g.178983079C>T" "" "pathogenic" "" "0000246401" "0" "50" "5" "178408807" "178408807" "subst" "0.000171314" "02330" "GRM6_000034" "g.178408807A>C" "" "" "" "GRM6(NM_000843.4):c.2485T>G (p.S829A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178981806A>C" "" "VUS" "" "0000246403" "0" "50" "5" "178418946" "178418946" "subst" "8.94214E-5" "02330" "GRM6_000046" "g.178418946A>G" "" "" "" "GRM6(NM_000843.4):c.643T>C (p.Y215H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178991945A>G" "" "VUS" "" "0000248551" "0" "10" "5" "178415937" "178415937" "subst" "0.531829" "02325" "GRM6_000018" "g.178415937A>G" "" "" "" "GRM6(NM_000843.4):c.1353T>C (p.N451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178988936A>G" "" "benign" "" "0000248552" "0" "10" "5" "178415982" "178415982" "subst" "0.996401" "02325" "GRM6_000020" "g.178415982A>G" "" "" "" "GRM6(NM_000843.4):c.1308T>C (p.T436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178988981A>G" "" "benign" "" "0000256109" "0" "50" "5" "178413222" "178413222" "subst" "0" "01943" "GRM6_000008" "g.178413222A>T" "" "" "" "GRM6(NM_000843.4):c.2033T>A (p.I678N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986221A>T" "" "VUS" "" "0000256624" "0" "50" "5" "178408827" "178408827" "subst" "0" "01943" "GRM6_000035" "g.178408827A>G" "" "" "" "GRM6(NM_000843.4):c.2465T>C (p.V822A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178981826A>G" "" "VUS" "" "0000277497" "0" "10" "5" "178416118" "178416118" "subst" "0.00126243" "02330" "GRM6_000023" "g.178416118C>T" "" "" "" "GRM6(NM_000843.4):c.1172G>A (p.R391Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178989117C>T" "" "benign" "" "0000277498" "0" "10" "5" "178415983" "178415983" "subst" "0.00772594" "02330" "GRM6_000021" "g.178415983G>A" "" "" "" "GRM6(NM_000843.4):c.1307C>T (p.T436I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178988982G>A" "" "benign" "" "0000277499" "0" "30" "5" "178415974" "178415974" "subst" "0.000147343" "02330" "GRM6_000019" "g.178415974C>T" "" "" "" "GRM6(NM_000843.4):c.1316G>A (p.R439Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178988973C>T" "" "likely benign" "" "0000277500" "0" "30" "5" "178413731" "178413731" "subst" "0.000531528" "02330" "GRM6_000015" "g.178413731G>A" "" "" "" "GRM6(NM_000843.4):c.1524C>T (p.G508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986730G>A" "" "likely benign" "" "0000277501" "0" "30" "5" "178413722" "178413722" "subst" "0.00246504" "02330" "GRM6_000014" "g.178413722G>A" "" "" "" "GRM6(NM_000843.4):c.1533C>T (p.H511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986721G>A" "" "likely benign" "" "0000277502" "0" "50" "5" "178413549" "178413549" "subst" "0.000452933" "02330" "GRM6_000013" "g.178413549G>A" "" "" "" "GRM6(NM_000843.4):c.1706C>T (p.T569M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986548G>A" "" "VUS" "" "0000277503" "0" "50" "5" "178413541" "178413541" "subst" "0.000437125" "02330" "GRM6_000012" "g.178413541G>A" "" "" "" "GRM6(NM_000843.4):c.1714C>T (p.R572C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986540G>A" "" "VUS" "" "0000277504" "0" "30" "5" "178413431" "178413431" "subst" "0" "02330" "GRM6_000011" "g.178413431C>G" "" "" "" "GRM6(NM_000843.4):c.1824G>C (p.V608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986430C>G" "" "likely benign" "" "0000277505" "0" "50" "5" "178413430" "178413430" "subst" "0.000323135" "02330" "GRM6_000044" "g.178413430G>A" "" "" "" "GRM6(NM_000843.4):c.1825C>T (p.R609W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986429G>A" "" "VUS" "" "0000277506" "0" "10" "5" "178413380" "178413380" "subst" "0.0030735" "02330" "GRM6_000010" "g.178413380G>A" "" "" "" "GRM6(NM_000843.4):c.1875C>T (p.Y625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986379G>A" "" "benign" "" "0000277507" "0" "30" "5" "178413349" "178413349" "subst" "1.22136E-5" "02330" "GRM6_000043" "g.178413349C>T" "" "" "" "GRM6(NM_000843.4):c.1906G>A (p.A636T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986348C>T" "" "likely benign" "" "0000277508" "0" "50" "5" "178413298" "178413298" "subst" "0.000359348" "02330" "GRM6_000042" "g.178413298G>A" "" "" "" "GRM6(NM_000843.4):c.1957C>T (p.R653C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986297G>A" "" "VUS" "" "0000277509" "0" "10" "5" "178413224" "178413224" "subst" "3.66133E-5" "02330" "GRM6_000040" "g.178413224G>A" "" "" "" "GRM6(NM_000843.4):c.2031C>T (p.R677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986223G>A" "" "benign" "" "0000277510" "0" "10" "5" "178413163" "178413163" "subst" "0.0047966" "02330" "GRM6_000039" "g.178413163G>C" "" "" "" "GRM6(NM_000843.3):c.2092C>G (p.(Leu698Val)), GRM6(NM_000843.4):c.2092C>G (p.L698V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986162G>C" "" "benign" "" "0000277511" "0" "30" "5" "178408685" "178408685" "subst" "0" "02330" "GRM6_000005" "g.178408685C>T" "" "" "" "GRM6(NM_000843.4):c.2607G>A (p.K869=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178981684C>T" "" "likely benign" "" "0000277512" "0" "10" "5" "178421432" "178421432" "subst" "0.000385378" "02330" "GRM6_000049" "g.178421432C>A" "" "" "" "GRM6(NM_000843.4):c.504+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178994431C>A" "" "benign" "" "0000277513" "0" "10" "5" "178418856" "178418856" "subst" "0.000537842" "02330" "GRM6_000027" "g.178418856C>A" "" "" "" "GRM6(NM_000843.4):c.721+12G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178991855C>A" "" "benign" "" "0000277514" "0" "10" "5" "178418549" "178418549" "subst" "0.00383784" "02330" "GRM6_000026" "g.178418549T>C" "" "" "" "GRM6(NM_000843.4):c.733A>G (p.I245V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178991548T>C" "" "benign" "" "0000281181" "0" "10" "5" "178416288" "178416288" "subst" "0.722546" "02325" "GRM6_000002" "g.178416288G>A" "" "" "" "GRM6(NM_000843.4):c.1131C>T (p.D377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178989287G>A" "" "benign" "" "0000281182" "0" "10" "5" "178416063" "178416063" "subst" "0.528505" "02325" "GRM6_000022" "g.178416063G>A" "" "" "" "GRM6(NM_000843.4):c.1227C>T (p.Y409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178989062G>A" "" "benign" "" "0000281183" "0" "10" "5" "178413816" "178413816" "subst" "0.609305" "02325" "GRM6_000016" "g.178413816T>C" "" "" "" "GRM6(NM_000843.4):c.1500+23A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986815T>C" "" "benign" "" "0000281184" "0" "10" "5" "178421770" "178421770" "subst" "0.549814" "02325" "GRM6_000033" "g.178421770T>G" "" "" "" "GRM6(NM_000843.4):c.176A>C (p.Q59P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178994769T>G" "" "benign" "" "0000281185" "0" "10" "5" "178412273" "178412273" "subst" "0" "02325" "GRM6_000038" "g.178412273T>C" "" "" "" "GRM6(NM_000843.4):c.2124+858A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178985272T>C" "" "benign" "" "0000281186" "0" "10" "5" "178410151" "178410151" "subst" "0.201482" "02325" "GRM6_000006" "g.178410151C>T" "" "" "" "GRM6(NM_000843.4):c.2196G>A (p.T732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178983150C>T" "" "benign" "" "0000281188" "0" "10" "5" "178419288" "178419288" "subst" "0" "02325" "GRM6_000048" "g.178419288C>T" "" "" "" "GRM6(NM_000843.4):c.505-204G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178992287C>T" "" "benign" "" "0000281189" "0" "10" "5" "178419401" "178419401" "dup" "0" "02325" "GRM6_000028" "g.178419401dup" "" "" "" "GRM6(NM_000843.4):c.505-313dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178992400dup" "" "benign" "" "0000288831" "0" "30" "5" "178417597" "178417597" "subst" "3.28912E-5" "01943" "GRM6_000024" "g.178417597G>A" "" "" "" "GRM6(NM_000843.4):c.1008C>T (p.I336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178990596G>A" "" "likely benign" "" "0000288832" "0" "30" "5" "178415983" "178415983" "subst" "0.00772594" "01943" "GRM6_000021" "g.178415983G>A" "" "" "" "GRM6(NM_000843.4):c.1307C>T (p.T436I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178988982G>A" "" "likely benign" "" "0000288833" "0" "50" "5" "178413884" "178413884" "subst" "0.000345576" "01943" "GRM6_000017" "g.178413884G>A" "" "" "" "GRM6(NM_000843.4):c.1455C>T (p.G485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986883G>A" "" "VUS" "" "0000288834" "0" "10" "5" "178413722" "178413722" "subst" "0.00246504" "01943" "GRM6_000014" "g.178413722G>A" "" "" "" "GRM6(NM_000843.4):c.1533C>T (p.H511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986721G>A" "" "benign" "" "0000288835" "0" "30" "5" "178413467" "178413467" "subst" "0" "01943" "GRM6_000045" "g.178413467G>A" "" "" "" "GRM6(NM_000843.4):c.1788C>T (p.G596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986466G>A" "" "likely benign" "" "0000288836" "0" "30" "5" "178413380" "178413380" "subst" "0.0030735" "01943" "GRM6_000010" "g.178413380G>A" "" "" "" "GRM6(NM_000843.4):c.1875C>T (p.Y625=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986379G>A" "" "likely benign" "" "0000288837" "0" "30" "5" "178413311" "178413311" "subst" "0.00100884" "01943" "GRM6_000009" "g.178413311C>A" "" "" "" "GRM6(NM_000843.4):c.1944G>T (p.A648=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986310C>A" "" "likely benign" "" "0000288838" "0" "50" "5" "178413241" "178413241" "subst" "0" "01943" "GRM6_000041" "g.178413241T>A" "" "" "" "GRM6(NM_000843.4):c.2014A>T (p.T672S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986240T>A" "" "VUS" "" "0000288839" "0" "30" "5" "178413122" "178413122" "subst" "0.00147781" "01943" "GRM6_000007" "g.178413122C>T" "" "" "" "GRM6(NM_000843.4):c.2124+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986121C>T" "" "likely benign" "" "0000288840" "0" "30" "5" "178410192" "178410192" "subst" "1.63267E-5" "01943" "GRM6_000037" "g.178410192G>A" "" "" "" "GRM6(NM_000843.4):c.2155C>T (p.R719W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178983191G>A" "" "likely benign" "" "0000288841" "0" "50" "5" "178408840" "178408840" "subst" "0" "01943" "GRM6_000036" "g.178408840T>A" "" "" "" "GRM6(NM_000843.4):c.2452A>T (p.T818S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178981839T>A" "" "VUS" "" "0000288842" "0" "50" "5" "178421686" "178421686" "subst" "0" "01943" "GRM6_000050" "g.178421686G>A" "" "" "" "GRM6(NM_000843.4):c.260C>T (p.P87L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178994685G>A" "" "VUS" "" "0000339558" "0" "10" "5" "178415937" "178415937" "subst" "0.531829" "02327" "GRM6_000018" "g.178415937A>G" "" "" "" "GRM6(NM_000843.4):c.1353T>C (p.N451=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178988936A>G" "" "benign" "" "0000339559" "0" "10" "5" "178415982" "178415982" "subst" "0.996401" "02327" "GRM6_000020" "g.178415982A>G" "" "" "" "GRM6(NM_000843.4):c.1308T>C (p.T436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178988981A>G" "" "benign" "" "0000339560" "0" "10" "5" "178416063" "178416063" "subst" "0.528505" "02327" "GRM6_000022" "g.178416063G>A" "" "" "" "GRM6(NM_000843.4):c.1227C>T (p.Y409=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178989062G>A" "" "benign" "" "0000339561" "0" "10" "5" "178416288" "178416288" "subst" "0.722546" "02327" "GRM6_000002" "g.178416288G>A" "" "" "" "GRM6(NM_000843.4):c.1131C>T (p.D377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178989287G>A" "" "benign" "" "0000344912" "0" "10" "5" "178421770" "178421770" "subst" "0.549814" "02327" "GRM6_000033" "g.178421770T>G" "" "" "" "GRM6(NM_000843.4):c.176A>C (p.Q59P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178994769T>G" "" "benign" "" "0000346108" "0" "50" "5" "178413883" "178413883" "subst" "2.43934E-5" "02327" "GRM6_000031" "g.178413883C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986882C>T" "" "VUS" "" "0000346292" "0" "50" "5" "178408795" "178408795" "subst" "8.15335E-6" "02327" "GRM6_000029" "g.178408795C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178981794C>T" "" "VUS" "" "0000349824" "0" "90" "5" "178413642" "178413642" "subst" "0" "02327" "GRM6_000030" "g.178413642C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178986641C>T" "" "pathogenic" "" "0000350074" "0" "90" "5" "178416105" "178416105" "subst" "4.07894E-6" "02327" "GRM6_000032" "g.178416105G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.178989104G>T" "" "pathogenic" "" "0000525346" "0" "30" "5" "178408702" "178408702" "subst" "0" "01804" "GRM6_000051" "g.178408702C>T" "" "" "" "GRM6(NM_000843.3):c.2590G>A (p.(Val864Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178981701C>T" "" "likely benign" "" "0000525347" "0" "10" "5" "178409992" "178409992" "subst" "0.00012996" "02330" "GRM6_000052" "g.178409992G>A" "" "" "" "GRM6(NM_000843.4):c.2355C>T (p.I785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178982991G>A" "" "benign" "" "0000525348" "0" "10" "5" "178409995" "178409995" "subst" "5.27979E-5" "02330" "GRM6_000053" "g.178409995G>A" "" "" "" "GRM6(NM_000843.4):c.2352C>T (p.P784=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178982994G>A" "" "benign" "" "0000525349" "0" "10" "5" "178413122" "178413122" "subst" "0.00147781" "02330" "GRM6_000007" "g.178413122C>T" "" "" "" "GRM6(NM_000843.4):c.2124+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986121C>T" "" "benign" "" "0000525350" "0" "30" "5" "178413123" "178413123" "subst" "0.000168712" "01943" "GRM6_000054" "g.178413123G>A" "" "" "" "GRM6(NM_000843.4):c.2124+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986122G>A" "" "likely benign" "" "0000525351" "0" "30" "5" "178413163" "178413163" "subst" "0.0047966" "01804" "GRM6_000039" "g.178413163G>C" "" "" "" "GRM6(NM_000843.3):c.2092C>G (p.(Leu698Val)), GRM6(NM_000843.4):c.2092C>G (p.L698V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986162G>C" "" "likely benign" "" "0000525352" "0" "50" "5" "178413201" "178413201" "subst" "0.00012618" "02330" "GRM6_000056" "g.178413201G>A" "" "" "" "GRM6(NM_000843.4):c.2054C>T (p.S685L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986200G>A" "" "VUS" "" "0000525353" "0" "50" "5" "178413255" "178413255" "subst" "4.07262E-6" "01943" "GRM6_000058" "g.178413255G>A" "" "" "" "GRM6(NM_000843.4):c.2000C>T (p.A667V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986254G>A" "" "VUS" "" "0000525354" "0" "10" "5" "178413476" "178413476" "subst" "0.000823546" "02330" "GRM6_000059" "g.178413476G>A" "" "" "" "GRM6(NM_000843.4):c.1779C>T (p.A593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986475G>A" "" "benign" "" "0000525356" "0" "50" "5" "178413523" "178413523" "subst" "0.00201431" "01943" "GRM6_000060" "g.178413523G>A" "" "" "" "GRM6(NM_000843.4):c.1732C>T (p.R578C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986522G>A" "" "VUS" "" "0000525357" "0" "50" "5" "178413684" "178413684" "subst" "0.000603849" "01943" "GRM6_000061" "g.178413684G>A" "" "" "" "GRM6(NM_000843.3):c.1571C>T (p.(Pro524Leu)), GRM6(NM_000843.4):c.1571C>T (p.P524L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986683G>A" "" "VUS" "" "0000525358" "0" "10" "5" "178413689" "178413689" "subst" "0.00190745" "02330" "GRM6_000062" "g.178413689G>A" "" "" "" "GRM6(NM_000843.4):c.1566C>T (p.C522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986688G>A" "" "benign" "" "0000525359" "0" "30" "5" "178413723" "178413723" "subst" "0.000561459" "01943" "GRM6_000063" "g.178413723T>C" "" "" "" "GRM6(NM_000843.4):c.1532A>G (p.H511R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986722T>C" "" "likely benign" "" "0000525360" "0" "30" "5" "178413761" "178413761" "subst" "0.000182169" "01943" "GRM6_000064" "g.178413761C>T" "" "" "" "GRM6(NM_000843.4):c.1501-7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986760C>T" "" "likely benign" "" "0000525361" "0" "30" "5" "178413909" "178413909" "subst" "8.53679E-5" "01943" "GRM6_000065" "g.178413909G>A" "" "" "" "GRM6(NM_000843.4):c.1430C>T (p.A477V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986908G>A" "" "likely benign" "" "0000525362" "0" "10" "5" "178413947" "178413947" "subst" "0.600464" "02325" "GRM6_000066" "g.178413947T>C" "" "" "" "GRM6(NM_000843.4):c.1392A>G (p.G464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986946T>C" "" "benign" "" "0000525363" "0" "30" "5" "178413950" "178413950" "subst" "0.000207712" "01943" "GRM6_000067" "g.178413950G>A" "" "" "" "GRM6(NM_000843.4):c.1389C>T (p.N463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986949G>A" "" "likely benign" "" "0000525364" "0" "50" "5" "178415953" "178415953" "subst" "8.21416E-6" "02330" "GRM6_000068" "g.178415953C>T" "" "" "" "GRM6(NM_000843.4):c.1337G>A (p.R446Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178988952C>T" "" "VUS" "" "0000525365" "0" "50" "5" "178415987" "178415987" "subst" "2.45108E-5" "01943" "GRM6_000069" "g.178415987G>A" "" "" "" "GRM6(NM_000843.4):c.1303C>T (p.P435S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178988986G>A" "" "VUS" "" "0000525366" "0" "50" "5" "178416388" "178416388" "subst" "8.12189E-6" "01943" "GRM6_000070" "g.178416388A>G" "" "" "" "GRM6(NM_000843.4):c.1031T>C (p.M344T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178989387A>G" "" "VUS" "" "0000525367" "0" "30" "5" "178417711" "178417711" "subst" "0" "01943" "GRM6_000071" "g.178417711G>A" "" "" "" "GRM6(NM_000843.4):c.894C>T (p.T298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178990710G>A" "" "likely benign" "" "0000525368" "0" "30" "5" "178418555" "178418555" "subst" "0.00500158" "02330" "GRM6_000072" "g.178418555C>A" "" "" "" "GRM6(NM_000843.4):c.727G>T (p.V243F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178991554C>A" "" "likely benign" "" "0000525369" "0" "50" "5" "178418555" "178418555" "subst" "0.00500158" "01943" "GRM6_000072" "g.178418555C>A" "" "" "" "GRM6(NM_000843.4):c.727G>T (p.V243F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178991554C>A" "" "VUS" "" "0000525370" "0" "10" "5" "178419280" "178419281" "ins" "0" "02325" "GRM6_000073" "g.178419280_178419281insGCAAGGTCTG" "" "" "" "GRM6(NM_000843.4):c.505-197_505-196insCAGACCTTGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178992279_178992280insGCAAGGTCTG" "" "benign" "" "0000525371" "0" "30" "5" "178421631" "178421631" "subst" "0" "01943" "GRM6_000074" "g.178421631C>T" "" "" "" "GRM6(NM_000843.4):c.315G>A (p.A105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178994630C>T" "" "likely benign" "" "0000525372" "0" "30" "5" "178421808" "178421808" "subst" "0.000737527" "01943" "GRM6_000075" "g.178421808C>T" "" "" "" "GRM6(NM_000843.4):c.138G>A (p.P46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178994807C>T" "" "likely benign" "" "0000525373" "0" "10" "5" "178421927" "178421927" "subst" "0.00986667" "02330" "GRM6_000076" "g.178421927C>T" "" "" "" "GRM6(NM_000843.4):c.19G>A (p.A7T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178994926C>T" "" "benign" "" "0000525374" "0" "30" "5" "178421927" "178421927" "subst" "0.00986667" "01943" "GRM6_000076" "g.178421927C>T" "" "" "" "GRM6(NM_000843.4):c.19G>A (p.A7T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178994926C>T" "" "likely benign" "" "0000609654" "0" "30" "5" "178413407" "178413407" "subst" "0.000758428" "01943" "GRM6_000079" "g.178413407G>A" "" "" "" "GRM6(NM_000843.4):c.1848C>T (p.V616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986406G>A" "" "likely benign" "" "0000609655" "0" "10" "5" "178413929" "178413929" "subst" "0.00124906" "02330" "GRM6_000080" "g.178413929G>A" "" "" "" "GRM6(NM_000843.4):c.1410C>T (p.Y470=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986928G>A" "" "benign" "" "0000621539" "0" "50" "5" "178408753" "178408753" "subst" "0" "01943" "GRM6_000077" "g.178408753G>C" "" "" "" "GRM6(NM_000843.4):c.2539C>G (p.P847A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178981752G>C" "" "VUS" "" "0000621540" "0" "30" "5" "178413248" "178413248" "subst" "2.03568E-5" "01943" "GRM6_000078" "g.178413248G>A" "" "" "" "GRM6(NM_000843.4):c.2007C>T (p.L669=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986247G>A" "" "likely benign" "" "0000621541" "0" "50" "5" "178413255" "178413255" "subst" "4.07262E-6" "02330" "GRM6_000058" "g.178413255G>A" "" "" "" "GRM6(NM_000843.4):c.2000C>T (p.A667V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986254G>A" "" "VUS" "" "0000621542" "0" "90" "5" "178418561" "178418561" "dup" "0" "02330" "GRM6_000081" "g.178418561dup" "" "" "" "GRM6(NM_000843.4):c.727dupG (p.V243Gfs*40)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178991560dup" "" "pathogenic" "" "0000621543" "0" "50" "5" "178418946" "178418946" "subst" "8.94214E-5" "01943" "GRM6_000046" "g.178418946A>G" "" "" "" "GRM6(NM_000843.4):c.643T>C (p.Y215H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178991945A>G" "" "VUS" "" "0000621544" "0" "50" "5" "178421531" "178421531" "subst" "4.39599E-5" "01943" "GRM6_000082" "g.178421531G>T" "" "" "" "GRM6(NM_000843.4):c.415C>A (p.P139T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178994530G>T" "" "VUS" "" "0000621545" "0" "30" "5" "178421724" "178421724" "subst" "0" "01943" "GRM6_000083" "g.178421724G>A" "" "" "" "GRM6(NM_000843.4):c.222C>T (p.Y74=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178994723G>A" "" "likely benign" "" "0000651681" "1" "50" "5" "178409927" "178409927" "subst" "0.0701671" "03575" "GRM6_000084" "g.178409927G>A" "162/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 162 heterozygous; {DB:CLININrs17078874}" "Germline" "" "rs17078874" "0" "" "" "g.178982926G>A" "" "VUS" "" "0000651682" "1" "50" "5" "178413616" "178413616" "subst" "0.000202793" "03575" "GRM6_000085" "g.178413616G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs182751201}" "Germline" "" "rs182751201" "0" "" "" "g.178986615G>A" "" "VUS" "" "0000651683" "1" "50" "5" "178418549" "178418549" "subst" "0.00383784" "03575" "GRM6_000026" "g.178418549T>C" "120/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 120 heterozygous; {DB:CLININrs62638207}" "Germline" "" "rs62638207" "0" "" "" "g.178991548T>C" "" "VUS" "" "0000651684" "1" "30" "5" "178418555" "178418555" "subst" "0.00500158" "03575" "GRM6_000072" "g.178418555C>A" "68/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "68 heterozygous; {DB:CLININrs17078894}" "Germline" "" "rs17078894" "0" "" "" "g.178991554C>A" "" "likely benign" "" "0000655359" "0" "50" "5" "178413690" "178413690" "subst" "2.52885E-5" "02327" "GRM6_000086" "g.178413690C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986689C>T" "" "VUS" "" "0000655360" "0" "50" "5" "178413934" "178413934" "subst" "0.000260408" "01943" "GRM6_000087" "g.178413934G>A" "" "" "" "GRM6(NM_000843.4):c.1405C>T (p.R469W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178986933G>A" "" "VUS" "" "0000655361" "0" "10" "5" "178421422" "178421422" "subst" "0.000342754" "02330" "GRM6_000088" "g.178421422C>G" "" "" "" "GRM6(NM_000843.4):c.504+20G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.178994421C>G" "" "benign" "" "0000669843" "3" "50" "5" "178409927" "178409927" "subst" "0.0701671" "03575" "GRM6_000084" "g.178409927G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 2 homozygous; {DB:CLININrs17078874}" "Germline" "" "rs17078874" "0" "" "" "g.178982926G>A" "" "VUS" "" "0000669844" "3" "50" "5" "178418549" "178418549" "subst" "0.00383784" "03575" "GRM6_000026" "g.178418549T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 1 homozygous; {DB:CLININrs62638207}" "Germline" "" "rs62638207" "0" "" "" "g.178991548T>C" "" "VUS" "" "0000669845" "3" "30" "5" "178418555" "178418555" "subst" "0.00500158" "03575" "GRM6_000072" "g.178418555C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs17078894}" "Germline" "" "rs17078894" "0" "" "" "g.178991554C>A" "" "likely benign" "" "0000677486" "0" "50" "5" "178408726" "178408726" "subst" "3.65833E-5" "01943" "GRM6_000089" "g.178408726G>A" "" "" "" "GRM6(NM_000843.4):c.2566C>T (p.R856W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677487" "0" "50" "5" "178410144" "178410144" "subst" "2.43756E-5" "01943" "GRM6_000090" "g.178410144G>T" "" "" "" "GRM6(NM_000843.4):c.2203C>A (p.P735T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677488" "0" "30" "5" "178413350" "178413350" "subst" "0.000309406" "01943" "GRM6_000091" "g.178413350G>A" "" "" "" "GRM6(NM_000843.4):c.1905C>T (p.Y635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677489" "0" "50" "5" "178413561" "178413561" "subst" "0.000238984" "01943" "GRM6_000092" "g.178413561G>A" "" "" "" "GRM6(NM_000843.4):c.1694C>T (p.T565M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000684755" "0" "30" "5" "178413718" "178413718" "subst" "0.000381606" "00004" "GRM6_000093" "g.178413718C>T" "frequency 0.014" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.178986717C>T" "" "likely benign" "" "0000689493" "0" "30" "5" "178413434" "178413434" "subst" "0.000306859" "01943" "GRM6_000094" "g.178413434G>A" "" "" "" "GRM6(NM_000843.4):c.1821C>T (p.F607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000712644" "0" "70" "5" "178413163" "178413163" "subst" "0.0047966" "03980" "GRM6_000039" "g.178413163G>C" "" "Doucette 2021, submitted" "" "" "In our manuscript we hypothesize that this variant may be pathogenic when inherited with a variant in TRPM1 c.3958G>A." "Germline" "yes" "rs62638623" "0" "" "" "" "likely benign {CV:99641}" "VUS" "" "0000713393" "0" "90" "5" "178421809" "178421809" "subst" "0" "00000" "GRM6_000096" "g.178421809G>A" "" "{PMID:Carss 2017:28041643}" "" "5:178421809G>A ENST00000231188.5:c.137C>T (Pro46Leu)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713632" "3" "90" "5" "178419012" "178419012" "del" "2.43875E-5" "00000" "GRM6_000095" "g.178419012del" "" "{PMID:Carss 2017:28041643}" "" "5:178419011AC>A ENST00000231188.5:c.577delG (Val193TrpfsTer16)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000713752" "0" "90" "5" "178421814" "178421828" "del" "0" "00000" "GRM6_000097" "g.178421814_178421828del" "" "{PMID:Carss 2017:28041643}" "" "5:178421813ACAGGCCGCCCAGCGT>A ENST00000231188.5:c.118_132delACGCTGGGCGGCCTG (Thr40_Leu44del)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000714046" "3" "70" "5" "178421878" "178421892" "del" "0" "00000" "GRM6_000098" "g.178421878_178421892del" "" "{PMID:Taylor 2017:28341476}" "" "" "" "Germline" "" "" "0" "" "" "g.178994877_178994891del" "" "likely pathogenic (recessive)" "" "0000720370" "0" "30" "5" "178408668" "178408668" "subst" "0.000256594" "01943" "GRM6_000099" "g.178408668G>T" "" "" "" "GRM6(NM_000843.4):c.2624C>A (p.A875D, p.(Ala875Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720371" "0" "30" "5" "178408685" "178408685" "subst" "0" "01943" "GRM6_000005" "g.178408685C>T" "" "" "" "GRM6(NM_000843.4):c.2607G>A (p.K869=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720372" "0" "50" "5" "178408714" "178408714" "subst" "1.21945E-5" "01943" "GRM6_000100" "g.178408714C>A" "" "" "" "GRM6(NM_000843.4):c.2578G>T (p.A860S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720373" "0" "50" "5" "178413201" "178413201" "subst" "0.00012618" "01943" "GRM6_000056" "g.178413201G>A" "" "" "" "GRM6(NM_000843.4):c.2054C>T (p.S685L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720374" "0" "50" "5" "178413273" "178413273" "subst" "6.93148E-5" "01943" "GRM6_000101" "g.178413273G>A" "" "" "" "GRM6(NM_000843.4):c.1982C>T (p.T661M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720375" "0" "50" "5" "178413616" "178413616" "subst" "0.000202793" "02325" "GRM6_000085" "g.178413616G>A" "" "" "" "GRM6(NM_000843.4):c.1639C>T (p.R547C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720376" "0" "50" "5" "178416125" "178416125" "subst" "0" "01943" "GRM6_000102" "g.178416125T>C" "" "" "" "GRM6(NM_000843.4):c.1165A>G (p.I389V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720377" "0" "50" "5" "178418473" "178418473" "subst" "8.52743E-5" "02325" "GRM6_000103" "g.178418473G>A" "" "" "" "GRM6(NM_000843.4):c.809C>T (p.T270M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000720378" "0" "30" "5" "178418564" "178418564" "subst" "0.000422524" "01943" "GRM6_000104" "g.178418564G>A" "" "" "" "GRM6(NM_000843.4):c.722-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720379" "0" "50" "5" "178419000" "178419000" "subst" "5.28374E-5" "01943" "GRM6_000105" "g.178419000C>T" "" "" "" "GRM6(NM_000843.4):c.589G>A (p.D197N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000732453" "0" "50" "5" "178413464" "178413464" "subst" "0.000849457" "00000" "GRM6_000106" "g.178413464G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.178986463G>A" "" "VUS" "" "0000732505" "0" "90" "5" "178413549" "178413549" "subst" "0.000452933" "00000" "GRM6_000013" "g.178413549G>A" "" "{PMID:Costa 2017:28912962}" "" "" "" "Germline" "" "" "0" "" "" "g.178986548G>A" "" "pathogenic" "" "0000735360" "3" "70" "5" "178413131" "178413131" "subst" "8.19477E-5" "00000" "GRM6_000107" "g.178413131C>A" "" "{PMID:Jin 2017:28373534}" "" "" "" "Germline" "" "" "0" "" "" "g.178986130C>A" "" "likely pathogenic" "" "0000760010" "0" "50" "5" "178416128" "178416128" "subst" "1.22744E-5" "00000" "GRM6_000109" "g.178416128G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.178989127G>A" "" "VUS" "" "0000760059" "0" "50" "5" "178415998" "178415998" "subst" "0.000236785" "00000" "GRM6_000108" "g.178415998G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.178988997G>A" "" "VUS" "" "0000760063" "0" "50" "5" "178413523" "178413523" "subst" "0.00201431" "00000" "GRM6_000060" "g.178413523G>A" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.178986522G>A" "" "VUS" "" "0000764116" "1" "90" "5" "178413523" "178413523" "subst" "0.00201431" "04043" "GRM6_000060" "g.178413523G>A" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "no" "" "0" "" "" "g.178986522G>A" "" "pathogenic (recessive)" "" "0000764150" "2" "90" "5" "178414571" "178414571" "dup" "0" "04043" "GRM6_000110" "g.178414571dup" "" "{PMID:Fadaie 2021:34795310}" "" "" "" "Germline" "no" "" "0" "" "" "g.178987570dup" "" "pathogenic (recessive)" "" "0000765561" "1" "90" "5" "178418555" "178418555" "subst" "0.00500158" "00000" "GRM6_000072" "g.178418555C>A" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.178991554C>A" "" "pathogenic" "" "0000765598" "2" "90" "5" "178410107" "178410107" "subst" "6.09152E-5" "00000" "GRM6_000111" "g.178410107G>A" "" "{PMID:Ge 2015:26667666}" "" "" "" "Germline" "" "" "0" "" "" "g.178983106G>A" "" "pathogenic" "" "0000788218" "1" "70" "5" "178421943" "178421943" "subst" "0" "00000" "GRM6_000113" "g.178421943C>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.178994942C>A" "" "likely pathogenic" "" "0000788219" "1" "70" "5" "178415954" "178415954" "subst" "1.64247E-5" "00000" "GRM6_000004" "g.178415954G>A" "" "{PMID:Zeitz 2015:25307992}" "" "" "no genotype reported" "Germline" "" "" "0" "" "" "g.178988953G>A" "" "likely pathogenic" "" "0000788322" "0" "50" "5" "178410178" "178410178" "subst" "0" "00000" "GRM6_000112" "g.178410178G>T" "" "{PMID:Katagiri 2014:25268133}" "" "C2169A" "" "Germline" "" "" "0" "" "" "g.178983177G>T" "" "VUS" "" "0000790186" "0" "30" "5" "178418555" "178418555" "subst" "0.00500158" "00000" "GRM6_000072" "g.178418555C>A" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000790231" "3" "90" "5" "178416076" "178416076" "subst" "3.25836E-5" "00000" "GRM6_000118" "g.178416076A>G" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000790270" "0" "50" "5" "178421809" "178421809" "subst" "0" "00000" "GRM6_000096" "g.178421809G>A" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790271" "0" "50" "5" "178421774" "178421774" "subst" "0" "00000" "GRM6_000121" "g.178421774C>G" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790272" "0" "50" "5" "178421498" "178421498" "subst" "0" "00000" "GRM6_000120" "g.178421498C>T" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790273" "0" "50" "5" "178418868" "178418869" "ins" "0" "00000" "GRM6_000119" "g.178418868_178418869insC" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790274" "0" "70" "5" "178418555" "178418555" "subst" "0.00500158" "00000" "GRM6_000072" "g.178418555C>A" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000790275" "0" "50" "5" "178418458" "178418458" "subst" "2.03041E-5" "00000" "GRM6_000003" "g.178418458C>T" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790276" "0" "50" "5" "178413690" "178413690" "subst" "2.52885E-5" "00000" "GRM6_000086" "g.178413690C>T" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790277" "0" "50" "5" "178413394" "178413394" "subst" "0.000154823" "00000" "GRM6_000117" "g.178413394G>A" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790278" "0" "50" "5" "178413165" "178413165" "subst" "0" "00000" "GRM6_000116" "g.178413165T>A" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790279" "0" "50" "5" "178413133" "178413133" "subst" "7.36799E-5" "00000" "GRM6_000115" "g.178413133G>A" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790280" "0" "50" "5" "178410006" "178410006" "subst" "8.12341E-5" "00000" "GRM6_000114" "g.178410006C>T" "" "{PMID:Zeitz-2009:19578023}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000790725" "3" "70" "5" "178410080" "178410080" "subst" "5.27962E-5" "00000" "GRM6_000001" "g.178410080C>T" "" "{PMID:Malaichamy 2014:24715752}" "" "" "" "Germline" "" "" "0" "" "" "g.178983079C>T" "" "likely pathogenic" "" "0000793996" "0" "70" "5" "178416023" "178416023" "subst" "0" "00000" "GRM6_000123" "g.178416023A>G" "0/96 controls" "{PMID:Wang-2012:22735794}" "" "c.1267T>C" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000793997" "0" "70" "5" "178413718" "178413718" "subst" "0.000381606" "00000" "GRM6_000093" "g.178413718C>T" "0/96 controls" "{PMID:Wang-2012:22735794}" "" "c.1537G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794029" "1" "70" "5" "178421774" "178421774" "subst" "0" "00000" "GRM6_000125" "g.178421774C>T" "" "{PMID:Godara-2012:22959359}" "" "172G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794030" "2" "70" "5" "178418561" "178418561" "subst" "0" "00000" "GRM6_000124" "g.178418561C>A" "" "{PMID:Godara-2012:22959359}" "" "IVS2-1G>T(c.722-1G>T)" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794031" "1" "70" "5" "178410080" "178410080" "subst" "5.27962E-5" "00000" "GRM6_000001" "g.178410080C>T" "" "{PMID:Godara-2012:22959359}" "" "2267G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794032" "2" "70" "5" "178410080" "178410080" "subst" "5.27962E-5" "00000" "GRM6_000001" "g.178410080C>T" "" "{PMID:Godara-2012:22959359}" "" "c.2267G>A" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794033" "1" "70" "5" "178413226" "178413226" "subst" "0.000195338" "00000" "GRM6_000122" "g.178413226G>A" "" "{PMID:Godara-2012:22959359}" "" "2029C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000794034" "2" "70" "5" "178413226" "178413226" "subst" "0.000195338" "00000" "GRM6_000122" "g.178413226G>A" "" "{PMID:Godara-2012:22959359}" "" "c.2029C>T" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000796294" "0" "90" "5" "178421871" "178421889" "dup" "0" "00000" "GRM6_000126" "g.178421871_178421889dup" "" "{PMID:Bijveld 2013:23714322}" "" "c.57_75dupl19" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796295" "0" "90" "5" "178421774" "178421774" "subst" "0" "00000" "GRM6_000121" "g.178421774C>G" "" "{PMID:Bijveld 2013:23714322}" "" "c.172G>C" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796296" "0" "90" "5" "178421809" "178421809" "subst" "0" "00000" "GRM6_000096" "g.178421809G>A" "" "{PMID:Bijveld 2013:23714322}" "" "c.137C>T;" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796297" "0" "90" "5" "178418868" "178418869" "ins" "0" "00000" "GRM6_000119" "g.178418868_178418869insC" "" "{PMID:Bijveld 2013:23714322}" "" "c.720_721insG" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000796298" "3" "90" "5" "178413690" "178413690" "subst" "2.52885E-5" "00000" "GRM6_000086" "g.178413690C>T" "" "{PMID:Bijveld 2013:23714322}" "" "c.1565G>A" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000797671" "0" "90" "5" "0" "0" "" "0" "00000" "RAD50_000000" "g.?" "" "{PMID:Jespersgaar 2019:30718709}" "" "GRM6 c.1861C>T, p.(Arg621*) c.(1354+1_1355-1) _(2436+1_2437-1)del" "" "Germline" "?" "" "0" "" "" "g.?" "" "pathogenic" "ACMG" "0000797672" "0" "90" "5" "178413394" "178413394" "subst" "0.000154823" "00000" "GRM6_000117" "g.178413394G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "GRM6 c.1861C>T, p.(Arg621*), c.(1354+1_1355-1), _(2436+1_2437-1), del" "" "Germline" "?" "" "0" "" "" "g.178986393G>A" "" "pathogenic" "ACMG" "0000798012" "0" "50" "5" "178419062" "178419062" "subst" "0" "00000" "GRM6_000128" "g.178419062G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "GRM6 c.527C>T, p.(Ser176Phe), c.2003T>C, p.(Leu668Pro)" "" "Germline" "?" "" "0" "" "" "g.178992061G>A" "" "VUS" "ACMG" "0000798013" "0" "50" "5" "178413252" "178413252" "subst" "4.07183E-6" "00000" "GRM6_000127" "g.178413252A>G" "" "{PMID:Jespersgaar 2019:30718709}" "" "GRM6 c.527C>T, p.(Ser176Phe), c.2003T>C, p.(Leu668Pro)" "" "Germline" "?" "" "0" "" "" "g.178986251A>G" "" "VUS" "ACMG" "0000802049" "0" "30" "5" "178410177" "178410177" "subst" "0.00107021" "01943" "GRM6_000129" "g.178410177C>T" "" "" "" "GRM6(NM_000843.4):c.2170G>A (p.V724M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802050" "0" "30" "5" "178413410" "178413410" "subst" "4.48621E-5" "01943" "GRM6_000130" "g.178413410G>A" "" "" "" "GRM6(NM_000843.4):c.1845C>T (p.I615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802051" "0" "30" "5" "178418550" "178418550" "subst" "3.65518E-5" "01943" "GRM6_000131" "g.178418550A>G" "" "" "" "GRM6(NM_000843.4):c.732T>C (p.C244=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000812396" "0" "70" "5" "178415954" "178415954" "subst" "1.64247E-5" "00000" "GRM6_000004" "g.178415954G>A" "" "{PMID:Martin Merida 2019:30902645}" "" "GRM6 Ex.6 c.1336C>T p.(Arg446*), IVS8 c.2124+1G>A p.(?)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.178988953G>A" "" "likely pathogenic" "" "0000812397" "0" "70" "5" "178413130" "178413130" "subst" "8.19464E-6" "00000" "GRM6_000132" "g.178413130C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "GRM6 Ex.6 c.1336C>T p.(Arg446*), IVS8 c.2124+1G>A p.(?)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.178986129C>T" "" "likely pathogenic" "" "0000812516" "0" "50" "5" "178413366" "178413366" "subst" "2.4426E-5" "00000" "GRM6_000133" "g.178413366C>A" "" "{PMID:Wang 2019:31106028}" "" "c.1889G>T, p.(Gly630Val)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.178986365C>A" "" "VUS" "" "0000812517" "0" "70" "5" "178413394" "178413394" "subst" "0.000154823" "00000" "GRM6_000117" "g.178413394G>A" "" "{PMID:Wang 2019:31106028}" "" "c.1861C>T, p.(Arg621*)" "compound heterozygous" "Germline" "?" "" "0" "" "" "g.178986393G>A" "" "likely pathogenic" "" "0000812588" "0" "70" "5" "178413718" "178413718" "subst" "0.000381606" "00000" "GRM6_000093" "g.178413718C>T" "" "{PMID:Wang 2019:31106028}" "" "c.1537G>A, p.(Val513Met)" "heterozygous" "Germline" "yes" "" "0" "" "" "g.178986717C>T" "" "likely pathogenic" "" "0000812703" "3" "70" "5" "178419014" "178419014" "subst" "8.13087E-5" "00000" "GRM6_000134" "g.178419014C>T" "" "{PMID:Wang 2019:31106028}" "" "c.575G>A, p.(Arg192Gln)" "Homozygous" "Germline" "yes" "" "0" "" "" "g.178992013C>T" "" "likely pathogenic" "" "0000816538" "0" "50" "5" "178421176" "178422393" "del" "0" "00000" "GRM6_000136" "g.178421176_178422393del" "" "{PMID:Zampaglione 2020:32037395}" "" "GRM6 chr5:178421176_178422393del" "ex1 del, unsolved" "Unknown" "?" "" "0" "" "" "" "" "VUS" "" "0000816544" "0" "50" "5" "178418877" "178418877" "subst" "0.000126706" "00000" "GRM6_000135" "g.178418877G>A" "" "{PMID:Zampaglione 2020:32037395}" "" "GRM6 c.712C>T, p.Arg238Ter" "unsolved" "Unknown" "?" "" "0" "" "" "g.178991876G>A" "" "VUS" "" "0000818972" "0" "70" "5" "178413130" "178413755" "del" "0" "00000" "GRM6_000137" "g.(178410223_178413130)_(178413755_178413838)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr5:178413126–178413759" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000819655" "1" "70" "5" "178421809" "178421809" "subst" "0" "00000" "GRM6_000096" "g.178421809G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "GRM6, variant 1: c.137C>T/p.P46L, variant 2: c.1054C>T/p.R352C" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.178994808G>A" "" "likely pathogenic" "" "0000820690" "1" "70" "5" "178416365" "178416365" "subst" "1.62427E-5" "00000" "GRM6_000138" "g.178416365G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "GRM6, variant 1: c.137C>T/p.P46L, variant 2: c.1054C>T/p.R352C" "solved, compound heterozygous" "Germline" "yes" "" "0" "" "" "g.178989364G>A" "" "likely pathogenic" "" "0000821263" "0" "70" "5" "178421824" "178421838" "del" "0" "00000" "GRM6_000097" "g.178421824_178421838del" "" "{PMID:Turro 2020:32581362}" "" "GRM6 c.118_132delACGCTGGGCGGCCTG, p.Thr40_Leu44del" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.178994823_178994837del" "" "likely pathogenic" "" "0000821264" "3" "90" "5" "178419014" "178419014" "del" "0" "00000" "GRM6_000095" "g.178419014del" "" "{PMID:Turro 2020:32581362}" "" "GRM6 c.577delG, p.Val193TrpfsTer16" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.178992013del" "" "pathogenic" "" "0000821560" "0" "70" "5" "178421809" "178421809" "subst" "0" "00000" "GRM6_000096" "g.178421809G>A" "" "{PMID:Turro 2020:32581362}" "" "GRM6 c.137C>T, p.Pro46Leu" "heterozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.178994808G>A" "" "likely pathogenic" "" "0000859895" "0" "50" "5" "178408704" "178408704" "subst" "0.000386261" "01943" "GRM6_000139" "g.178408704G>A" "" "" "" "GRM6(NM_000843.4):c.2588C>T (p.T863M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859896" "0" "30" "5" "178413684" "178413684" "subst" "0.000603849" "01804" "GRM6_000061" "g.178413684G>A" "" "" "" "GRM6(NM_000843.3):c.1571C>T (p.(Pro524Leu)), GRM6(NM_000843.4):c.1571C>T (p.P524L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874412" "3" "50" "5" "178419048" "178419048" "subst" "0" "04364" "GRM6_000140" "g.178419048G>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000874416" "3" "70" "5" "178410080" "178410080" "subst" "5.27962E-5" "04364" "GRM6_000001" "g.178410080C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000876299" "0" "70" "5" "178416063" "178416063" "subst" "0" "00000" "GRM6_000150" "g.178416063G>T" "" "{PMID:O\'Connor 2006:16622103}" "" "Y409X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000876300" "0" "50" "5" "178421874" "178421874" "subst" "0.021982" "00000" "GRM6_000155" "g.178421874C>T" "1/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.72G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000876301" "0" "70" "5" "178421961" "178421961" "delins" "0" "00000" "GRM6_000156" "g.178421961delinsA" "1/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.67-82delCAGGCGGGCCTGGCGCinsT" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000876302" "0" "30" "5" "178421770" "178421770" "subst" "0.549814" "00000" "GRM6_000033" "g.178421770T>G" "76/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.176A>C" "" "Germline" "" "rs2645329" "0" "" "" "" "" "likely benign" "" "0000876303" "0" "50" "5" "178421432" "178421432" "subst" "0.000385378" "00000" "GRM6_000049" "g.178421432C>A" "1/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.504+10g>t" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000876304" "0" "50" "5" "178418606" "178418606" "subst" "0" "00000" "GRM6_000153" "g.178418606C>G" "1/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.726-50g>c" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000876305" "0" "70" "5" "178417752" "178417752" "subst" "0.000137617" "00000" "GRM6_000151" "g.178417752T>C" "1/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.858-5a>g" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000876306" "0" "30" "5" "178416288" "178416288" "subst" "0.722546" "00000" "GRM6_000002" "g.178416288G>A" "87/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.1131C>T" "" "Germline" "" "rs2071246" "0" "" "" "" "" "likely benign" "" "0000876307" "0" "50" "5" "178416118" "178416118" "subst" "0.00126243" "00000" "GRM6_000023" "g.178416118C>T" "2/96 patients with high myopia; 4/96 controls" "{PMID:Xu 2009:19862333}" "" "c.1172G>A" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000876308" "0" "30" "5" "178416063" "178416063" "subst" "0.528505" "00000" "GRM6_000022" "g.178416063G>A" "84/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.1227C>T" "" "Germline" "" "rs2645339" "0" "" "" "" "" "likely benign" "" "0000876309" "0" "30" "5" "178415982" "178415982" "subst" "0.996401" "00000" "GRM6_000020" "g.178415982A>G" "96/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.1308T>C" "" "Germline" "" "rs4701014" "0" "" "" "" "" "likely benign" "" "0000876310" "0" "30" "5" "178415937" "178415937" "subst" "0.531829" "00000" "GRM6_000018" "g.178415937A>G" "84/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.1353T>C" "" "Germline" "" "rs2067011" "0" "" "" "" "" "likely benign" "" "0000876311" "0" "50" "5" "178413980" "178413980" "subst" "0.000578039" "00000" "GRM6_000149" "g.178413980G>A" "2/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.1359C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000876312" "0" "50" "5" "178413956" "178413956" "subst" "0.000391185" "00000" "GRM6_000148" "g.178413956G>A" "1/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.1383C>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000876313" "0" "30" "5" "178413947" "178413947" "subst" "0.600464" "00000" "GRM6_000066" "g.178413947T>C" "75/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.1392A>G" "" "Germline" "" "rs11746675" "0" "" "" "" "" "likely benign" "" "0000876314" "0" "70" "5" "178413718" "178413718" "subst" "0.000381606" "00000" "GRM6_000093" "g.178413718C>T" "3/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.1537G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000876315" "0" "30" "5" "178410151" "178410151" "subst" "0.201482" "00000" "GRM6_000006" "g.178410151C>T" "52/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.2196G>A" "" "Germline" "" "rs2071247" "0" "" "" "" "" "likely benign" "" "0000876316" "0" "50" "5" "178408861" "178408861" "subst" "0.049555" "00000" "GRM6_000143" "g.178408861C>T" "19/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.2437-6g>a" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000876317" "0" "30" "5" "178408835" "178408835" "subst" "0.0169046" "00000" "GRM6_000142" "g.178408835C>T" "19/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.2457G>A" "" "Germline" "" "rs2071249" "0" "" "" "" "" "likely benign" "" "0000876318" "0" "30" "5" "178408602" "178408602" "subst" "0" "00000" "GRM6_000141" "g.178408602T>A" "19/96 patients with high myopia" "{PMID:Xu 2009:19862333}" "" "c.2634+56a>t" "" "Germline" "" "rs17078853" "0" "" "" "" "" "likely benign" "" "0000886780" "0" "30" "5" "178409965" "178409965" "subst" "8.1215E-6" "02330" "GRM6_000157" "g.178409965G>A" "" "" "" "GRM6(NM_000843.4):c.2382C>T (p.I794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886781" "0" "30" "5" "178410090" "178410090" "subst" "0.000462937" "02330" "GRM6_000158" "g.178410090C>T" "" "" "" "GRM6(NM_000843.4):c.2257G>A (p.G753S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000886782" "0" "30" "5" "178418935" "178418935" "subst" "8.54249E-5" "02330" "GRM6_000159" "g.178418935C>T" "" "" "" "GRM6(NM_000843.4):c.654G>A (p.T218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908727" "3" "70" "5" "178413394" "178413394" "subst" "0.000154823" "00000" "GRM6_000117" "g.178413394G>A" "" "{PMID:Dryja 2005:15781871}" "" "Arg-6213End (c.1861C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908728" "1" "70" "5" "178413133" "178413133" "subst" "7.36799E-5" "00000" "GRM6_000115" "g.178413133G>A" "" "{PMID:Dryja 2005:15781871}" "" "Gln-7083End (c.2122C>T;CAG to TAG)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908729" "2" "70" "5" "178421498" "178421498" "subst" "0" "00000" "GRM6_000120" "g.178421498C>T" "" "{PMID:Dryja 2005:15781871}" "" "Gly-1503Ser (c.448G>A;GGC to AGC)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908730" "3" "70" "5" "178410006" "178410006" "subst" "8.12341E-5" "00000" "GRM6_000114" "g.178410006C>T" "" "{PMID:Dryja 2005:15781871}" "" "Glu-7813Lys (c.2341G>A;GAGtoAAG)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908731" "0" "70" "5" "178418877" "178418877" "subst" "0.000126706" "00000" "GRM6_000135" "g.178418877G>A" "" "{PMID:O\'Connor 2006:16622103}" "" "R238X" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908732" "0" "70" "5" "178416365" "178416365" "subst" "1.62427E-5" "00000" "GRM6_000138" "g.178416365G>A" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Arg352Cys (+) Gln708X]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908733" "0" "70" "5" "178413133" "178413133" "subst" "7.36799E-5" "00000" "GRM6_000115" "g.178413133G>A" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Arg352Cys (+) Gln708X]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908734" "0" "70" "5" "178416365" "178416365" "subst" "1.62427E-5" "00000" "GRM6_000138" "g.178416365G>A" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Arg352Cys(+) Gln708X]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908735" "0" "70" "5" "178413133" "178413133" "subst" "7.36799E-5" "00000" "GRM6_000115" "g.178413133G>A" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Arg352Cys(+) Gln708X]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908736" "3" "70" "5" "178413226" "178413226" "subst" "0.000195338" "00000" "GRM6_000122" "g.178413226G>A" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Arg677Cys (+) Arg677Cys]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908737" "3" "70" "5" "178410080" "178410080" "subst" "5.27962E-5" "00000" "GRM6_000001" "g.178410080C>T" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Gly756Asp (+) Gly756Asp]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908738" "3" "70" "5" "178419012" "178419012" "del" "2.43875E-5" "00000" "GRM6_000095" "g.178419012del" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Val193fsX15 (+) Val193fsX15]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908739" "3" "70" "5" "178419012" "178419012" "del" "2.43875E-5" "00000" "GRM6_000095" "g.178419012del" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Val193fsX15 (+) Val193fsX15]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908740" "0" "70" "5" "178418877" "178418877" "subst" "0.000126706" "00000" "GRM6_000135" "g.178418877G>A" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Arg238X (+) Arg677Cys]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908741" "0" "70" "5" "178413226" "178413226" "subst" "0.000195338" "00000" "GRM6_000122" "g.178413226G>A" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Arg238X (+) Arg677Cys]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908742" "3" "70" "5" "178413225" "178413225" "subst" "6.92019E-5" "00000" "GRM6_000145" "g.178413225C>T" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Arg677His (+) Arg677His]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908743" "0" "70" "5" "178418459" "178418459" "subst" "8.12163E-6" "00000" "GRM6_000152" "g.178418459C>T" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Gly275Asp (+) Pro689fsX24]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908744" "0" "70" "5" "178413189" "178413189" "del" "7.73534E-5" "00000" "GRM6_000144" "g.178413189del" "" "{PMID:Sergouniotis 2012:22008250}" "" "p.[Gly275Asp (+) Pro689fsX24]" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000908745" "3" "90" "5" "178415954" "178415954" "subst" "1.64247E-5" "00000" "GRM6_000004" "g.178415954G>A" "" "{PMID:Naeem-2015:26628857}" "" "c.1336C>T (p.R446X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000908746" "3" "90" "5" "178415954" "178415954" "subst" "1.64247E-5" "00000" "GRM6_000004" "g.178415954G>A" "" "{PMID:Naeem-2015:26628857}" "" "c.1336C>T (p.R446X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000908747" "3" "90" "5" "178410080" "178410080" "subst" "5.27962E-5" "00000" "GRM6_000001" "g.178410080C>T" "" "{PMID:Naeem-2015:26628857}" "" "c.2267G>A (p.G756D)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000908748" "3" "90" "5" "178410080" "178410080" "subst" "5.27962E-5" "00000" "GRM6_000001" "g.178410080C>T" "" "{PMID:Naeem-2015:26628857}" "" "c.2267G>A (p.G756D)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000908749" "3" "90" "5" "178410080" "178410080" "subst" "5.27962E-5" "00000" "GRM6_000001" "g.178410080C>T" "" "{PMID:Naeem-2015:26628857}" "" "c.2267G>A (p.G756D)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000908750" "3" "90" "5" "178410080" "178410080" "subst" "5.27962E-5" "00000" "GRM6_000001" "g.178410080C>T" "" "{PMID:Naeem-2015:26628857}" "" "c.2267G>A (p.G756D)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000908751" "3" "90" "5" "178410080" "178410080" "subst" "5.27962E-5" "00000" "GRM6_000001" "g.178410080C>T" "" "{PMID:Naeem-2015:26628857}" "" "c.2267G>A (p.G756D)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000908752" "3" "70" "5" "178413457" "178413457" "subst" "0" "00000" "GRM6_000146" "g.178413457T>G" "" "{PMID:Tourville-2019:31063016}" "" "c.1798A>C p.(Thr600Pro)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000908753" "3" "70" "5" "178413457" "178413457" "subst" "0" "00000" "GRM6_000146" "g.178413457T>G" "" "{PMID:Tourville-2019:31063016}" "" "c.1798A>C p.(Thr600Pro)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000908754" "1" "70" "5" "178413394" "178413394" "subst" "0.000154823" "00000" "GRM6_000117" "g.178413394G>A" "" "{PMID:Liu-2019:31677249}" "" "p.Arg621Ter (c.1861C>T)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000908755" "2" "70" "5" "178421794" "178421794" "subst" "0" "00000" "GRM6_000154" "g.178421794C>A" "" "{PMID:Liu-2019:31677249}" "" "p.Gly51Val (c.152G>T)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000908756" "21" "70" "5" "178413949" "178413949" "subst" "0" "00000" "GRM6_000147" "g.178413949C>T" "" "{PMID:Liu-2019:31677249}" "" "p.Gly464Arg (c.1390G>A)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000908757" "11" "70" "5" "178413394" "178413394" "subst" "0.000154823" "00000" "GRM6_000117" "g.178413394G>A" "" "{PMID:Liu-2019:31677249}" "" "p.Arg621Ter (c.1861C>T)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000908758" "0" "10" "5" "178413947" "178413947" "subst" "0.600464" "00000" "GRM6_000066" "g.178413947T>C" "" "{PMID:Liu-2019:31677249}" "" "c.1392A>G" "" "Germline" "" "rs11746675" "0" "" "" "" "" "benign" "" "0000908759" "21" "70" "5" "178413949" "178413949" "subst" "0" "00000" "GRM6_000147" "g.178413949C>T" "" "{PMID:Liu-2019:31677249}" "" "p.Gly464Arg (c.1390G>A)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000908760" "11" "70" "5" "178413394" "178413394" "subst" "0.000154823" "00000" "GRM6_000117" "g.178413394G>A" "" "{PMID:Liu-2019:31677249}" "" "p.Arg621Ter (c.1861C>T)" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000908761" "0" "10" "5" "178413947" "178413947" "subst" "0.600464" "00000" "GRM6_000066" "g.178413947T>C" "" "{PMID:Liu-2019:31677249}" "" "c.1392A>G" "" "Germline" "yes" "rs11746675" "0" "" "" "" "" "benign" "" "0000924320" "0" "50" "5" "178413933" "178413933" "subst" "2.84831E-5" "02325" "GRM6_000160" "g.178413933C>T" "" "" "" "GRM6(NM_000843.4):c.1406G>A (p.R469Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927592" "3" "70" "5" "178408795" "178408795" "subst" "0" "04364" "GRM6_000161" "g.178408795C>G" "" "" "" "g.14413G>C" "not in 200 chromosome tested" "Germline" "yes" "" "0" "" "" "g.178981794C>G" "" "likely pathogenic (recessive)" "ACMG" "0000948537" "0" "30" "5" "178413368" "178413368" "subst" "0.000232007" "02330" "GRM6_000162" "g.178413368G>A" "" "" "" "GRM6(NM_000843.4):c.1887C>T (p.T629=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948538" "0" "30" "5" "178413941" "178413941" "subst" "0.000187226" "02330" "GRM6_000163" "g.178413941C>T" "" "" "" "GRM6(NM_000843.4):c.1398G>A (p.A466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963575" "0" "30" "5" "178408703" "178408703" "subst" "1.62652E-5" "02330" "GRM6_000164" "g.178408703C>T" "" "" "" "GRM6(NM_000843.4):c.2589G>A (p.T863=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963576" "0" "30" "5" "178413350" "178413350" "subst" "0.000309406" "02330" "GRM6_000091" "g.178413350G>A" "" "" "" "GRM6(NM_000843.4):c.1905C>T (p.Y635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963578" "0" "70" "5" "178416365" "178416365" "subst" "1.62427E-5" "02327" "GRM6_000138" "g.178416365G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976746" "0" "50" "5" "178410107" "178410107" "subst" "6.09152E-5" "01804" "GRM6_000111" "g.178410107G>A" "" "" "" "GRM6(NM_000843.4):c.2240C>T (p.(Ser747Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976747" "0" "50" "5" "178413235" "178413235" "subst" "0.000227859" "01804" "GRM6_000165" "g.178413235G>A" "" "" "" "GRM6(NM_000843.3):c.2020C>T (p.(Arg674Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976748" "0" "50" "5" "178418945" "178418945" "subst" "0" "01804" "GRM6_000166" "g.178418945T>C" "" "" "" "GRM6(NM_000843.4):c.644A>G (p.(Tyr215Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025080" "0" "70" "5" "178408732" "178408732" "subst" "8.12902E-6" "01943" "GRM6_000167" "g.178408732G>A" "" "" "" "GRM6(NM_000843.4):c.2560C>T (p.R854*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001035133" "0" "30" "5" "178408668" "178408668" "subst" "0.000256594" "01804" "GRM6_000099" "g.178408668G>T" "" "" "" "GRM6(NM_000843.4):c.2624C>A (p.A875D, p.(Ala875Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035134" "0" "50" "5" "178408731" "178408731" "subst" "2.84537E-5" "01804" "GRM6_000168" "g.178408731C>T" "" "" "" "GRM6(NM_000843.4):c.2561G>A (p.(Arg854Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035135" "0" "50" "5" "178413297" "178413297" "subst" "0.000220723" "01804" "GRM6_000169" "g.178413297C>T" "" "" "" "GRM6(NM_000843.4):c.1958G>A (p.(Arg653His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035136" "0" "50" "5" "178413417" "178413417" "subst" "0.000440654" "01804" "GRM6_000170" "g.178413417G>A" "" "" "" "GRM6(NM_000843.4):c.1838C>T (p.(Thr613Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035137" "0" "50" "5" "178413590" "178413590" "subst" "0" "01804" "GRM6_000171" "g.178413590G>T" "" "" "" "GRM6(NM_000843.4):c.1665C>A (p.(Cys555*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035138" "0" "50" "5" "178417652" "178417652" "subst" "2.08415E-5" "01804" "GRM6_000172" "g.178417652C>A" "" "" "" "GRM6(NM_000843.4):c.953G>T (p.(Ser318Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035139" "0" "50" "5" "178419015" "178419015" "subst" "8.13001E-6" "01804" "GRM6_000173" "g.178419015G>A" "" "" "" "GRM6(NM_000843.4):c.574C>T (p.(Arg192Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes GRM6 ## Count = 267 "{{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}}" "0000012242" "00001597" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(=)" "5" "0000091161" "00001597" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000162792" "00001597" "90" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Gly275Asp)" "3" "0000162797" "00001597" "90" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446*)" "6" "0000162798" "00001597" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000246401" "00001597" "50" "2485" "0" "2485" "0" "c.2485T>G" "r.(?)" "p.(Ser829Ala)" "" "0000246403" "00001597" "50" "643" "0" "643" "0" "c.643T>C" "r.(?)" "p.(Tyr215His)" "" "0000248551" "00001597" "10" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(Asn451=)" "" "0000248552" "00001597" "10" "1308" "0" "1308" "0" "c.1308T>C" "r.(?)" "p.(Thr436=)" "" "0000256109" "00001597" "50" "2033" "0" "2033" "0" "c.2033T>A" "r.(?)" "p.(Ile678Asn)" "" "0000256624" "00001597" "50" "2465" "0" "2465" "0" "c.2465T>C" "r.(?)" "p.(Val822Ala)" "" "0000277497" "00001597" "10" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391Gln)" "" "0000277498" "00001597" "10" "1307" "0" "1307" "0" "c.1307C>T" "r.(?)" "p.(Thr436Ile)" "" "0000277499" "00001597" "30" "1316" "0" "1316" "0" "c.1316G>A" "r.(?)" "p.(Arg439Gln)" "" "0000277500" "00001597" "30" "1524" "0" "1524" "0" "c.1524C>T" "r.(?)" "p.(Gly508=)" "" "0000277501" "00001597" "30" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(His511=)" "" "0000277502" "00001597" "50" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Thr569Met)" "" "0000277503" "00001597" "50" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Cys)" "" "0000277504" "00001597" "30" "1824" "0" "1824" "0" "c.1824G>C" "r.(?)" "p.(Val608=)" "" "0000277505" "00001597" "50" "1825" "0" "1825" "0" "c.1825C>T" "r.(?)" "p.(Arg609Trp)" "" "0000277506" "00001597" "10" "1875" "0" "1875" "0" "c.1875C>T" "r.(?)" "p.(Tyr625=)" "" "0000277507" "00001597" "30" "1906" "0" "1906" "0" "c.1906G>A" "r.(?)" "p.(Ala636Thr)" "" "0000277508" "00001597" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Cys)" "" "0000277509" "00001597" "10" "2031" "0" "2031" "0" "c.2031C>T" "r.(?)" "p.(Arg677=)" "" "0000277510" "00001597" "10" "2092" "0" "2092" "0" "c.2092C>G" "r.(?)" "p.(Leu698Val)" "" "0000277511" "00001597" "30" "2607" "0" "2607" "0" "c.2607G>A" "r.(?)" "p.(Lys869=)" "" "0000277512" "00001597" "10" "504" "10" "504" "10" "c.504+10G>T" "r.(=)" "p.(=)" "" "0000277513" "00001597" "10" "721" "12" "721" "12" "c.721+12G>T" "r.(=)" "p.(=)" "" "0000277514" "00001597" "10" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Ile245Val)" "" "0000281181" "00001597" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Asp377=)" "" "0000281182" "00001597" "10" "1227" "0" "1227" "0" "c.1227C>T" "r.(?)" "p.(Tyr409=)" "" "0000281183" "00001597" "10" "1500" "23" "1500" "23" "c.1500+23A>G" "r.(=)" "p.(=)" "" "0000281184" "00001597" "10" "176" "0" "176" "0" "c.176A>C" "r.(?)" "p.(Gln59Pro)" "" "0000281185" "00001597" "10" "2124" "858" "2124" "858" "c.2124+858A>G" "r.(=)" "p.(=)" "" "0000281186" "00001597" "10" "2196" "0" "2196" "0" "c.2196G>A" "r.(?)" "p.(Thr732=)" "" "0000281188" "00001597" "10" "505" "-204" "505" "-204" "c.505-204G>A" "r.(=)" "p.(=)" "" "0000281189" "00001597" "10" "505" "-313" "505" "-313" "c.505-313dup" "r.(=)" "p.(=)" "" "0000288831" "00001597" "30" "1008" "0" "1008" "0" "c.1008C>T" "r.(?)" "p.(Ile336=)" "" "0000288832" "00001597" "30" "1307" "0" "1307" "0" "c.1307C>T" "r.(?)" "p.(Thr436Ile)" "" "0000288833" "00001597" "50" "1455" "0" "1455" "0" "c.1455C>T" "r.(?)" "p.(Gly485=)" "" "0000288834" "00001597" "10" "1533" "0" "1533" "0" "c.1533C>T" "r.(?)" "p.(His511=)" "" "0000288835" "00001597" "30" "1788" "0" "1788" "0" "c.1788C>T" "r.(?)" "p.(Gly596=)" "" "0000288836" "00001597" "30" "1875" "0" "1875" "0" "c.1875C>T" "r.(?)" "p.(Tyr625=)" "" "0000288837" "00001597" "30" "1944" "0" "1944" "0" "c.1944G>T" "r.(?)" "p.(Ala648=)" "" "0000288838" "00001597" "50" "2014" "0" "2014" "0" "c.2014A>T" "r.(?)" "p.(Thr672Ser)" "" "0000288839" "00001597" "30" "2124" "9" "2124" "9" "c.2124+9G>A" "r.(=)" "p.(=)" "" "0000288840" "00001597" "30" "2155" "0" "2155" "0" "c.2155C>T" "r.(?)" "p.(Arg719Trp)" "" "0000288841" "00001597" "50" "2452" "0" "2452" "0" "c.2452A>T" "r.(?)" "p.(Thr818Ser)" "" "0000288842" "00001597" "50" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Pro87Leu)" "" "0000339558" "00001597" "10" "1353" "0" "1353" "0" "c.1353T>C" "r.(?)" "p.(Asn451=)" "" "0000339559" "00001597" "10" "1308" "0" "1308" "0" "c.1308T>C" "r.(?)" "p.(Thr436=)" "" "0000339560" "00001597" "10" "1227" "0" "1227" "0" "c.1227C>T" "r.(?)" "p.(Tyr409=)" "" "0000339561" "00001597" "10" "1131" "0" "1131" "0" "c.1131C>T" "r.(?)" "p.(Asp377=)" "" "0000344912" "00001597" "10" "176" "0" "176" "0" "c.176A>C" "r.(?)" "p.(Gln59Pro)" "" "0000346108" "00001597" "50" "1456" "0" "1456" "0" "c.1456G>A" "r.(?)" "p.(Gly486Arg)" "" "0000346292" "00001597" "50" "2497" "0" "2497" "0" "c.2497G>A" "r.(?)" "p.(Gly833Ser)" "" "0000349824" "00001597" "90" "1613" "0" "1613" "0" "c.1613G>A" "r.(?)" "p.(Trp538Ter)" "" "0000350074" "00001597" "90" "1185" "0" "1185" "0" "c.1185C>A" "r.(?)" "p.(Tyr395Ter)" "" "0000525346" "00001597" "30" "2590" "0" "2590" "0" "c.2590G>A" "r.(?)" "p.(Val864Met)" "" "0000525347" "00001597" "10" "2355" "0" "2355" "0" "c.2355C>T" "r.(?)" "p.(Ile785=)" "" "0000525348" "00001597" "10" "2352" "0" "2352" "0" "c.2352C>T" "r.(?)" "p.(Pro784=)" "" "0000525349" "00001597" "10" "2124" "9" "2124" "9" "c.2124+9G>A" "r.(=)" "p.(=)" "" "0000525350" "00001597" "30" "2124" "8" "2124" "8" "c.2124+8C>T" "r.(=)" "p.(=)" "" "0000525351" "00001597" "30" "2092" "0" "2092" "0" "c.2092C>G" "r.(?)" "p.(Leu698Val)" "" "0000525352" "00001597" "50" "2054" "0" "2054" "0" "c.2054C>T" "r.(?)" "p.(Ser685Leu)" "" "0000525353" "00001597" "50" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Ala667Val)" "" "0000525354" "00001597" "10" "1779" "0" "1779" "0" "c.1779C>T" "r.(?)" "p.(Ala593=)" "" "0000525356" "00001597" "50" "1732" "0" "1732" "0" "c.1732C>T" "r.(?)" "p.(Arg578Cys)" "" "0000525357" "00001597" "50" "1571" "0" "1571" "0" "c.1571C>T" "r.(?)" "p.(Pro524Leu)" "" "0000525358" "00001597" "10" "1566" "0" "1566" "0" "c.1566C>T" "r.(?)" "p.(Cys522=)" "" "0000525359" "00001597" "30" "1532" "0" "1532" "0" "c.1532A>G" "r.(?)" "p.(His511Arg)" "" "0000525360" "00001597" "30" "1501" "-7" "1501" "-7" "c.1501-7G>A" "r.(=)" "p.(=)" "" "0000525361" "00001597" "30" "1430" "0" "1430" "0" "c.1430C>T" "r.(?)" "p.(Ala477Val)" "" "0000525362" "00001597" "10" "1392" "0" "1392" "0" "c.1392A>G" "r.(?)" "p.(Gly464=)" "" "0000525363" "00001597" "30" "1389" "0" "1389" "0" "c.1389C>T" "r.(?)" "p.(Asn463=)" "" "0000525364" "00001597" "50" "1337" "0" "1337" "0" "c.1337G>A" "r.(?)" "p.(Arg446Gln)" "" "0000525365" "00001597" "50" "1303" "0" "1303" "0" "c.1303C>T" "r.(?)" "p.(Pro435Ser)" "" "0000525366" "00001597" "50" "1031" "0" "1031" "0" "c.1031T>C" "r.(?)" "p.(Met344Thr)" "" "0000525367" "00001597" "30" "894" "0" "894" "0" "c.894C>T" "r.(?)" "p.(Thr298=)" "" "0000525368" "00001597" "30" "727" "0" "727" "0" "c.727G>T" "r.(?)" "p.(Val243Phe)" "" "0000525369" "00001597" "50" "727" "0" "727" "0" "c.727G>T" "r.(?)" "p.(Val243Phe)" "" "0000525370" "00001597" "10" "505" "-196" "505" "-195" "c.505-196_505-195insAGACCTTGCC" "r.(=)" "p.(=)" "" "0000525371" "00001597" "30" "315" "0" "315" "0" "c.315G>A" "r.(?)" "p.(Ala105=)" "" "0000525372" "00001597" "30" "138" "0" "138" "0" "c.138G>A" "r.(?)" "p.(Pro46=)" "" "0000525373" "00001597" "10" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Ala7Thr)" "" "0000525374" "00001597" "30" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Ala7Thr)" "" "0000609654" "00001597" "30" "1848" "0" "1848" "0" "c.1848C>T" "r.(?)" "p.(Val616=)" "" "0000609655" "00001597" "10" "1410" "0" "1410" "0" "c.1410C>T" "r.(?)" "p.(Tyr470=)" "" "0000621539" "00001597" "50" "2539" "0" "2539" "0" "c.2539C>G" "r.(?)" "p.(Pro847Ala)" "" "0000621540" "00001597" "30" "2007" "0" "2007" "0" "c.2007C>T" "r.(?)" "p.(Leu669=)" "" "0000621541" "00001597" "50" "2000" "0" "2000" "0" "c.2000C>T" "r.(?)" "p.(Ala667Val)" "" "0000621542" "00001597" "90" "727" "0" "727" "0" "c.727dup" "r.(?)" "p.(Val243GlyfsTer40)" "" "0000621543" "00001597" "50" "643" "0" "643" "0" "c.643T>C" "r.(?)" "p.(Tyr215His)" "" "0000621544" "00001597" "50" "415" "0" "415" "0" "c.415C>A" "r.(?)" "p.(Pro139Thr)" "" "0000621545" "00001597" "30" "222" "0" "222" "0" "c.222C>T" "r.(?)" "p.(Tyr74=)" "" "0000651681" "00001597" "50" "2420" "0" "2420" "0" "c.2420C>T" "r.(?)" "p.(Ala807Val)" "" "0000651682" "00001597" "50" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Arg547Cys)" "" "0000651683" "00001597" "50" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Ile245Val)" "" "0000651684" "00001597" "30" "727" "0" "727" "0" "c.727G>T" "r.(?)" "p.(Val243Phe)" "" "0000655359" "00001597" "50" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Cys522Tyr)" "" "0000655360" "00001597" "50" "1405" "0" "1405" "0" "c.1405C>T" "r.(?)" "p.(Arg469Trp)" "" "0000655361" "00001597" "10" "504" "20" "504" "20" "c.504+20G>C" "r.(=)" "p.(=)" "" "0000669843" "00001597" "50" "2420" "0" "2420" "0" "c.2420C>T" "r.(?)" "p.(Ala807Val)" "" "0000669844" "00001597" "50" "733" "0" "733" "0" "c.733A>G" "r.(?)" "p.(Ile245Val)" "" "0000669845" "00001597" "30" "727" "0" "727" "0" "c.727G>T" "r.(?)" "p.(Val243Phe)" "" "0000677486" "00001597" "50" "2566" "0" "2566" "0" "c.2566C>T" "r.(?)" "p.(Arg856Trp)" "" "0000677487" "00001597" "50" "2203" "0" "2203" "0" "c.2203C>A" "r.(?)" "p.(Pro735Thr)" "" "0000677488" "00001597" "30" "1905" "0" "1905" "0" "c.1905C>T" "r.(?)" "p.(Tyr635=)" "" "0000677489" "00001597" "50" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Thr565Met)" "" "0000684755" "00001597" "30" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Val513Met)" "" "0000689493" "00001597" "30" "1821" "0" "1821" "0" "c.1821C>T" "r.(?)" "p.(Phe607=)" "" "0000712644" "00001597" "70" "2092" "0" "2092" "0" "c.2092C>G" "r.(?)" "p.(Leu698Val)" "" "0000713393" "00001597" "90" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Pro46Leu)" "" "0000713632" "00001597" "90" "577" "0" "577" "0" "c.577del" "r.(?)" "p.(Val193Trpfs*16)" "" "0000713752" "00001597" "90" "118" "0" "132" "0" "c.118_132del" "r.(?)" "p.(Thr40_Leu44del)" "" "0000714046" "00001597" "70" "58" "0" "72" "0" "c.58_72del" "r.(?)" "p.(Trp20_Ala24del)" "" "0000720370" "00001597" "30" "2624" "0" "2624" "0" "c.2624C>A" "r.(?)" "p.(Ala875Asp)" "" "0000720371" "00001597" "30" "2607" "0" "2607" "0" "c.2607G>A" "r.(?)" "p.(Lys869=)" "" "0000720372" "00001597" "50" "2578" "0" "2578" "0" "c.2578G>T" "r.(?)" "p.(Ala860Ser)" "" "0000720373" "00001597" "50" "2054" "0" "2054" "0" "c.2054C>T" "r.(?)" "p.(Ser685Leu)" "" "0000720374" "00001597" "50" "1982" "0" "1982" "0" "c.1982C>T" "r.(?)" "p.(Thr661Met)" "" "0000720375" "00001597" "50" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Arg547Cys)" "" "0000720376" "00001597" "50" "1165" "0" "1165" "0" "c.1165A>G" "r.(?)" "p.(Ile389Val)" "" "0000720377" "00001597" "50" "809" "0" "809" "0" "c.809C>T" "r.(?)" "p.(Thr270Met)" "" "0000720378" "00001597" "30" "722" "-4" "722" "-4" "c.722-4C>T" "r.spl?" "p.?" "" "0000720379" "00001597" "50" "589" "0" "589" "0" "c.589G>A" "r.(?)" "p.(Asp197Asn)" "" "0000732453" "00001597" "50" "1791" "0" "1791" "0" "c.1791C>T" "r.(?)" "p.(Ile597=)" "" "0000732505" "00001597" "90" "1706" "0" "1706" "0" "c.1706C>T" "r.(?)" "p.(Thr569Met)" "" "0000735360" "00001597" "70" "2124" "0" "2124" "0" "c.2124G>T" "r.(?)" "p.(Gln708His)" "" "0000760010" "00001597" "50" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Cys)" "" "0000760059" "00001597" "50" "1292" "0" "1292" "0" "c.1292C>T" "r.(?)" "p.(Pro431Leu)" "" "0000760063" "00001597" "50" "1732" "0" "1732" "0" "c.1732C>T" "r.(?)" "p.(Arg578Cys)" "" "0000764116" "00001597" "90" "1732" "0" "1732" "0" "c.1732C>T" "r.1732c>u" "p.(Arg578Cys)" "9" "0000764150" "00001597" "90" "1355" "-587" "1355" "-587" "c.1355-587dup" "r.1354_1355ins[1355-664_1355-590],1154_1250del" "p.[Asn451_Ala452ins25,Gly385Alafs*42,=]" "6i" "0000765561" "00001597" "90" "727" "0" "727" "0" "c.727G>T" "r.(?)" "p.(Val243Phe)" "" "0000765598" "00001597" "90" "2240" "0" "2240" "0" "c.2240C>T" "r.(?)" "p.(Ser747Leu)" "" "0000788218" "00001597" "70" "3" "0" "3" "0" "c.3G>T" "r.(?)" "p.(Met1?)" "" "0000788219" "00001597" "70" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446Ter)" "" "0000788322" "00001597" "50" "2169" "0" "2169" "0" "c.2169C>A" "r.(?)" "p.(Ser723Arg)" "9" "0000790186" "00001597" "30" "727" "0" "727" "0" "c.727G>T" "r.(?)" "p.(Val243Phe)" "3" "0000790231" "00001597" "90" "1214" "0" "1214" "0" "c.1214T>C" "r.(?)" "p.(Ile405Thr)" "6" "0000790270" "00001597" "50" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Pro46Leu)" "1" "0000790271" "00001597" "50" "172" "0" "172" "0" "c.172G>C" "r.(?)" "p.(Gly58Arg)" "1" "0000790272" "00001597" "50" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Gly150Ser)" "1" "0000790273" "00001597" "50" "720" "0" "721" "0" "c.720_721insG" "r.spl?" "p.(Val243Glyfs*40)" "2" "0000790274" "00001597" "70" "727" "0" "727" "0" "c.727G>T" "r.(?)" "p.(Val243Phe)" "3" "0000790275" "00001597" "50" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Gly275Asp)" "3" "0000790276" "00001597" "50" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Cys522Tyr)" "8" "0000790277" "00001597" "50" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621*)" "8" "0000790278" "00001597" "50" "2090" "0" "2090" "0" "c.2090A>T" "r.(?)" "p.(Gln697Leu)" "8" "0000790279" "00001597" "50" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Gln708*)" "8" "0000790280" "00001597" "50" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Glu781Lys)" "9" "0000790725" "00001597" "70" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "" "0000793996" "00001597" "70" "1267" "0" "1267" "0" "c.1267T>C" "r.(?)" "p.(Cys423Arg)" "6" "0000793997" "00001597" "70" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Val513Met)" "8" "0000794029" "00001597" "70" "172" "0" "172" "0" "c.172G>A" "r.(?)" "p.(Gly58Arg)" "1" "0000794030" "00001597" "70" "722" "-1" "722" "-1" "c.722-1G>T" "r.spl?" "p.?" "2i" "0000794031" "00001597" "70" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000794032" "00001597" "70" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000794033" "00001597" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Cys)" "8" "0000794034" "00001597" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Cys)" "8" "0000796294" "00001597" "90" "57" "0" "75" "0" "c.57_75dup" "r.(?)" "p.(Leu26Valfs*169)" "1" "0000796295" "00001597" "90" "172" "0" "172" "0" "c.172G>C" "r.(?)" "p.(Gly58Arg)" "1" "0000796296" "00001597" "90" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Pro46Leu)" "1" "0000796297" "00001597" "90" "720" "0" "721" "0" "c.720_721insG" "r.spl?" "p.?" "2" "0000796298" "00001597" "90" "1565" "0" "1565" "0" "c.1565G>A" "r.(?)" "p.(Cys522Tyr)" "8" "0000797671" "00001597" "90" "1355" "-1" "2436" "1" "c.(1354+1_1355-1)_(2436+1_2437-1)del" "r.(?)" "p.(?)" "" "0000797672" "00001597" "90" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621*)" "" "0000798012" "00001597" "50" "527" "0" "527" "0" "c.527C>T" "r.(?)" "p.(Ser176Phe)" "" "0000798013" "00001597" "50" "2003" "0" "2003" "0" "c.2003T>C" "r.(?)" "p.(Leu668Pro)" "" "0000802049" "00001597" "30" "2170" "0" "2170" "0" "c.2170G>A" "r.(?)" "p.(Val724Met)" "" "0000802050" "00001597" "30" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(Ile615=)" "" "0000802051" "00001597" "30" "732" "0" "732" "0" "c.732T>C" "r.(?)" "p.(Cys244=)" "" "0000812396" "00001597" "70" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446*)" "6" "0000812397" "00001597" "70" "2124" "1" "2124" "1" "c.2124+1G>A" "r.(?)" "p.(?)" "8i" "0000812516" "00001597" "50" "1889" "0" "1889" "0" "c.1889G>T" "r.(?)" "p.(Gly630Val)" "" "0000812517" "00001597" "70" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621*)" "" "0000812588" "00001597" "70" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Val513Met)" "" "0000812703" "00001597" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192Gln)" "" "0000816538" "00001597" "50" "0" "0" "0" "0" "c.?" "r.spl" "p.(?)" "" "0000816544" "00001597" "50" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238*)" "" "0000818972" "00001597" "70" "1501" "-1" "2124" "1" "c.(1500+1_1501-1)_(2124+1_2125-1)del" "r.spl?" "p.?" "7i_8i" "0000819655" "00001597" "70" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Pro46Leu)" "" "0000820690" "00001597" "70" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Cys)" "" "0000821263" "00001597" "70" "118" "0" "132" "0" "c.118_132del" "r.(?)" "p.(Thr40_Leu44del)" "" "0000821264" "00001597" "90" "577" "0" "577" "0" "c.577del" "r.(?)" "p.(Val193Trpfs*16)" "" "0000821560" "00001597" "70" "137" "0" "137" "0" "c.137C>T" "r.(?)" "p.(Pro46Leu)" "" "0000859895" "00001597" "50" "2588" "0" "2588" "0" "c.2588C>T" "r.(?)" "p.(Thr863Met)" "" "0000859896" "00001597" "30" "1571" "0" "1571" "0" "c.1571C>T" "r.(?)" "p.(Pro524Leu)" "" "0000874412" "00001597" "50" "541" "0" "541" "0" "c.541C>A" "r.(?)" "p.(Leu181Ile)" "" "0000874416" "00001597" "70" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "10" "0000876299" "00001597" "70" "1227" "0" "1227" "0" "c.1227C>A" "r.(?)" "p.(Tyr409*)" "6" "0000876300" "00001597" "50" "72" "0" "72" "0" "c.72G>A" "r.(=)" "p.(=)" "1" "0000876301" "00001597" "70" "67" "-82" "67" "-82" "c.67-82delCAGGCGGGCCTGGCGCinsT" "r.spl?" "p.?" "1" "0000876302" "00001597" "30" "176" "0" "176" "0" "c.176A>C" "r.(?)" "p.(Gln59Pro)" "1" "0000876303" "00001597" "50" "504" "10" "504" "10" "c.504+10G>T" "r.(=)" "p.(=)" "1i" "0000876304" "00001597" "50" "726" "-50" "726" "-50" "c.726-50G>C" "r.spl?" "p.?" "2i" "0000876305" "00001597" "70" "858" "-5" "858" "-5" "c.858-5A>G" "r.spl?" "p.?" "3i" "0000876306" "00001597" "30" "1131" "0" "1131" "0" "c.1131C>T" "r.(=)" "p.(=)" "5" "0000876307" "00001597" "50" "1172" "0" "1172" "0" "c.1172G>A" "r.(?)" "p.(Arg391Gln)" "6" "0000876308" "00001597" "30" "1227" "0" "1227" "0" "c.1227C>T" "r.(=)" "p.(=)" "6" "0000876309" "00001597" "30" "1308" "0" "1308" "0" "c.1308T>C" "r.(=)" "p.(=)" "6" "0000876310" "00001597" "30" "1353" "0" "1353" "0" "c.1353T>C" "r.(=)" "p.(=)" "6" "0000876311" "00001597" "50" "1359" "0" "1359" "0" "c.1359C>T" "r.(=)" "p.(=)" "7" "0000876312" "00001597" "50" "1383" "0" "1383" "0" "c.1383C>T" "r.(=)" "p.(=)" "7" "0000876313" "00001597" "30" "1392" "0" "1392" "0" "c.1392A>G" "r.(=)" "p.(=)" "7" "0000876314" "00001597" "70" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Val513Met)" "8" "0000876315" "00001597" "30" "2196" "0" "2196" "0" "c.2196G>A" "r.(=)" "p.(=)" "9" "0000876316" "00001597" "50" "2437" "-6" "2437" "-6" "c.2437-6G>A" "r.(=)" "p.(=)" "9i" "0000876317" "00001597" "30" "2457" "0" "2457" "0" "c.2457G>A" "r.(=)" "p.(=)" "10" "0000876318" "00001597" "30" "2634" "56" "2634" "56" "c.2634+56A>T" "r.spl?" "p.?" "10" "0000886780" "00001597" "30" "2382" "0" "2382" "0" "c.2382C>T" "r.(?)" "p.(Ile794=)" "" "0000886781" "00001597" "30" "2257" "0" "2257" "0" "c.2257G>A" "r.(?)" "p.(Gly753Ser)" "" "0000886782" "00001597" "30" "654" "0" "654" "0" "c.654G>A" "r.(?)" "p.(Thr218=)" "" "0000908727" "00001597" "70" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621*)" "8" "0000908728" "00001597" "70" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Gln708*)" "8" "0000908729" "00001597" "70" "448" "0" "448" "0" "c.448G>A" "r.(?)" "p.(Gly150Ser)" "1" "0000908730" "00001597" "70" "2341" "0" "2341" "0" "c.2341G>A" "r.(?)" "p.(Glu781Lys)" "9" "0000908731" "00001597" "70" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238*)" "2" "0000908732" "00001597" "70" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Cys)" "5" "0000908733" "00001597" "70" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Gln708*)" "8" "0000908734" "00001597" "70" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Cys)" "5" "0000908735" "00001597" "70" "2122" "0" "2122" "0" "c.2122C>T" "r.(?)" "p.(Gln708*)" "8" "0000908736" "00001597" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Cys)" "8" "0000908737" "00001597" "70" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000908738" "00001597" "70" "577" "0" "577" "0" "c.577del" "r.(?)" "p.(Val193Trpfs*16)" "2" "0000908739" "00001597" "70" "577" "0" "577" "0" "c.577del" "r.(?)" "p.(Val193Trpfs*16)" "2" "0000908740" "00001597" "70" "712" "0" "712" "0" "c.712C>T" "r.(?)" "p.(Arg238*)" "2" "0000908741" "00001597" "70" "2029" "0" "2029" "0" "c.2029C>T" "r.(?)" "p.(Arg677Cys)" "8" "0000908742" "00001597" "70" "2030" "0" "2030" "0" "c.2030G>A" "r.(?)" "p.(Arg677His)" "8" "0000908743" "00001597" "70" "823" "0" "823" "0" "c.823G>A" "r.(?)" "p.(Gly275Ser)" "3" "0000908744" "00001597" "70" "2066" "0" "2066" "0" "c.2066del" "r.(?)" "p.(Pro689Leufs*24)" "8" "0000908745" "00001597" "90" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446*)" "6" "0000908746" "00001597" "90" "1336" "0" "1336" "0" "c.1336C>T" "r.(?)" "p.(Arg446*)" "6" "0000908747" "00001597" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000908748" "00001597" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000908749" "00001597" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000908750" "00001597" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000908751" "00001597" "90" "2267" "0" "2267" "0" "c.2267G>A" "r.(?)" "p.(Gly756Asp)" "9" "0000908752" "00001597" "70" "1798" "0" "1798" "0" "c.1798A>C" "r.(?)" "p.(Thr600Pro)" "8" "0000908753" "00001597" "70" "1798" "0" "1798" "0" "c.1798A>C" "r.(?)" "p.(Thr600Pro)" "8" "0000908754" "00001597" "70" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621*)" "8" "0000908755" "00001597" "70" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Gly51Val)" "1" "0000908756" "00001597" "70" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Gly464Arg)" "7" "0000908757" "00001597" "70" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621*)" "8" "0000908758" "00001597" "10" "1392" "0" "1392" "0" "c.1392A>G" "r.(=)" "p.(=)" "7" "0000908759" "00001597" "70" "1390" "0" "1390" "0" "c.1390G>A" "r.(?)" "p.(Gly464Arg)" "7" "0000908760" "00001597" "70" "1861" "0" "1861" "0" "c.1861C>T" "r.(?)" "p.(Arg621*)" "8" "0000908761" "00001597" "10" "1392" "0" "1392" "0" "c.1392A>G" "r.(=)" "p.(=)" "7" "0000924320" "00001597" "50" "1406" "0" "1406" "0" "c.1406G>A" "r.(?)" "p.(Arg469Gln)" "" "0000927592" "00001597" "70" "2497" "0" "2497" "0" "c.2497G>C" "r.(?)" "p.(Gly833Arg)" "11" "0000948537" "00001597" "30" "1887" "0" "1887" "0" "c.1887C>T" "r.(?)" "p.(=)" "" "0000948538" "00001597" "30" "1398" "0" "1398" "0" "c.1398G>A" "r.(?)" "p.(=)" "" "0000963575" "00001597" "30" "2589" "0" "2589" "0" "c.2589G>A" "r.(?)" "p.(=)" "" "0000963576" "00001597" "30" "1905" "0" "1905" "0" "c.1905C>T" "r.(?)" "p.(Tyr635=)" "" "0000963578" "00001597" "70" "1054" "0" "1054" "0" "c.1054C>T" "r.(?)" "p.(Arg352Cys)" "" "0000976746" "00001597" "50" "2240" "0" "2240" "0" "c.2240C>T" "r.(?)" "p.(Ser747Leu)" "" "0000976747" "00001597" "50" "2020" "0" "2020" "0" "c.2020C>T" "r.(?)" "p.(Arg674Cys)" "" "0000976748" "00001597" "50" "644" "0" "644" "0" "c.644A>G" "r.(?)" "p.(Tyr215Cys)" "" "0001025080" "00001597" "70" "2560" "0" "2560" "0" "c.2560C>T" "r.(?)" "p.(Arg854*)" "" "0001035133" "00001597" "30" "2624" "0" "2624" "0" "c.2624C>A" "r.(?)" "p.(Ala875Asp)" "" "0001035134" "00001597" "50" "2561" "0" "2561" "0" "c.2561G>A" "r.(?)" "p.(Arg854Gln)" "" "0001035135" "00001597" "50" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653His)" "" "0001035136" "00001597" "50" "1838" "0" "1838" "0" "c.1838C>T" "r.(?)" "p.(Thr613Met)" "" "0001035137" "00001597" "50" "1665" "0" "1665" "0" "c.1665C>A" "r.(?)" "p.(Cys555*)" "" "0001035138" "00001597" "50" "953" "0" "953" "0" "c.953G>T" "r.(?)" "p.(Ser318Ile)" "" "0001035139" "00001597" "50" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 114 "{{screeningid}}" "{{variantid}}" "0000000210" "0000012242" "0000059910" "0000091161" "0000100493" "0000162792" "0000100498" "0000162797" "0000100499" "0000162798" "0000145015" "0000788322" "0000294992" "0000651681" "0000294993" "0000651682" "0000294994" "0000651683" "0000294995" "0000651684" "0000306155" "0000669843" "0000306156" "0000669844" "0000306157" "0000669845" "0000309853" "0000684755" "0000328674" "0000712644" "0000329270" "0000713393" "0000329270" "0000713752" "0000329509" "0000713632" "0000329689" "0000714046" "0000334578" "0000732453" "0000334589" "0000732505" "0000336197" "0000735360" "0000360195" "0000760010" "0000360208" "0000760059" "0000360209" "0000760063" "0000363461" "0000764116" "0000363461" "0000764150" "0000364686" "0000765561" "0000364686" "0000765598" "0000376583" "0000788218" "0000376584" "0000788219" "0000377759" "0000790186" "0000377803" "0000790231" "0000377842" "0000790270" "0000377843" "0000790271" "0000377844" "0000790272" "0000377845" "0000790273" "0000377846" "0000790274" "0000377847" "0000790275" "0000377848" "0000790276" "0000377849" "0000790277" "0000377850" "0000790278" "0000377851" "0000790279" "0000377852" "0000790280" "0000378058" "0000790725" "0000380798" "0000793996" "0000380799" "0000793997" "0000380829" "0000794029" "0000380829" "0000794030" "0000380830" "0000794031" "0000380830" "0000794032" "0000380831" "0000794033" "0000380831" "0000794034" "0000382469" "0000796294" "0000382469" "0000796295" "0000382470" "0000796296" "0000382470" "0000796297" "0000382471" "0000796298" "0000383524" "0000797671" "0000383524" "0000797672" "0000383764" "0000798012" "0000383764" "0000798013" "0000385370" "0000812396" "0000385370" "0000812397" "0000385459" "0000812516" "0000385459" "0000812517" "0000385512" "0000812588" "0000385609" "0000812703" "0000388103" "0000816538" "0000388135" "0000816544" "0000389738" "0000818972" "0000390310" "0000819655" "0000390310" "0000820690" "0000391514" "0000821263" "0000391514" "0000821560" "0000391515" "0000821264" "0000416367" "0000874412" "0000416368" "0000874416" "0000429280" "0000908727" "0000429281" "0000908728" "0000429281" "0000908729" "0000429282" "0000908730" "0000429283" "0000908731" "0000429284" "0000908732" "0000429284" "0000908733" "0000429285" "0000908734" "0000429285" "0000908735" "0000429286" "0000908736" "0000429287" "0000908737" "0000429288" "0000908738" "0000429289" "0000908739" "0000429290" "0000908740" "0000429290" "0000908741" "0000429291" "0000908742" "0000429292" "0000908743" "0000429292" "0000908744" "0000429293" "0000908745" "0000429294" "0000908746" "0000429295" "0000908747" "0000429296" "0000908748" "0000429297" "0000908749" "0000429298" "0000908750" "0000429299" "0000908751" "0000429300" "0000908752" "0000429301" "0000908753" "0000429302" "0000908754" "0000429302" "0000908755" "0000429303" "0000908756" "0000429303" "0000908757" "0000429303" "0000908758" "0000429304" "0000908759" "0000429304" "0000908760" "0000429304" "0000908761" "0000436571" "0000927592"