### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FMR1) # 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}}" "FMR1" "fragile X messenger ribonucleoprotein 1" "X" "q27.3" "unknown" "NG_007529.1" "UD_132118376649" "" "" "" "1" "3775" "2332" "309550" "1" "1" "1" "1" "Establishment of this LSDB was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/FMR1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2015-05-20 10:08:47" "00000" "2026-01-20 18:57:21" ## 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}}" "00000997" "FMR1" "transcript variant ISO1" "001" "NM_002024.5" "" "NP_002015.1" "" "" "" "-229" "4182" "1899" "146993469" "147032647" "00000" "2012-09-13 13:05:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{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" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00262" "FXS" "fragile-X syndrome (FXS)" "XLD" "300624" "" "" "X-linked dominant" "00006" "2013-10-31 12:41:24" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02172" "FXTAS" "Fragile X tremor/ataxia syndrome (FXTAS)" "XLD" "300623" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02247" "MPS2" "mucopolysaccharidosis, type II (MPS-2, Hunter syndrome)" "XLR" "309900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02257" "POF1" "ovarian failure, premature, type 1 (POF-1)" "XL" "311360" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "05580" "MPS" "mucopolysaccharidosis (MPS)" "" "" "" "" "" "00006" "2019-03-01 09:43:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "FMR1" "00262" "FMR1" "02172" "FMR1" "02257" ## Individuals ## Do not remove or alter this header ## ## Count = 62 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00003130" "" "" "" "1" "" "00548" "" "" "M" "no" "Germany;Poland" "" "0" "" "" "white" "" "00025860" "" "" "" "1" "" "01173" "" "" "M" "no" "Belgium" ">30y" "0" "" "" "white" "" "00038647" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377188-Pat?" "00038648" "" "" "" "21" "" "00124" "{PMID:Tarpey 2009:19377476}" "208 families with X-linked mental retardation" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377189-Pat?" "00038650" "" "" "" "1" "" "00006" "{PMID:Eichler 1995:8634688}, {DOI:Eichler 1995:10.1093/hmg/4.12.2199}" "analysis 406 random blood donor alleles" "?" "?" "" "" "0" "" "" "white" "" "00038651" "" "" "" "1" "" "00006" "{PMID:Eichler 1995:8634688}, {DOI:Eichler 1995:10.1093/hmg/4.12.2199}" "analysis 406 random blood donor alleles" "?" "?" "United States" "" "0" "" "" "African-American" "" "00081844" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "M" "?" "(Belgium)" "?" "0" "yes" "" "?" "" "00081845" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "M" "?" "(Belgium)" "?" "0" "yes" "" "" "" "00081846" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "M" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081847" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "M" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081848" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "M" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081849" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "M" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081850" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "M" "" "(Belgium)" "" "0" "yes" "" "" "" "00081851" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081852" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081853" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081854" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081855" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081856" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081857" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081858" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081859" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "" "(Belgium)" "" "0" "yes" "" "" "" "00081860" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081861" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081862" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081863" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081864" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081866" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "" "(Belgium)" "" "0" "yes" "" "" "" "00081867" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081868" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081869" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081870" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081871" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081872" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081873" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "" "(Belgium)" "" "0" "yes" "" "" "" "00081874" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081875" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081876" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081877" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "" "(Belgium)" "" "0" "yes" "" "" "" "00081878" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "" "(Belgium)" "" "0" "yes" "" "" "" "00081879" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081880" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "" "(Belgium)" "" "0" "yes" "" "" "" "00081881" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081882" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081883" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081884" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "?" "(Belgium)" "" "0" "yes" "" "" "" "00081885" "" "" "" "1" "" "01798" "{PMID:Ardui 2016:27883256}" "" "F" "" "(Belgium)" "" "0" "yes" "" "" "" "00295611" "" "" "" "1" "" "00067" "" "" "M" "no" "France" "04y03m" "0" "" "melatonine" "" "" "00296773" "" "" "" "3" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 3 affected brothers, unaffected carrier mother" "M" "" "France" "" "0" "" "" "" "APN-26" "00299866" "" "" "" "1" "" "03656" "" "" "M" "" "" "" "0" "" "" "" "" "00299867" "" "" "" "1" "" "03656" "" "" "" "" "" "" "0" "" "" "" "" "00324865" "" "" "" "3" "" "00006" "{PMID:Snow 1993:7902673}" "4-generation family" "M" "" "United States" "" "0" "" "" "" "FamInd9" "00324866" "" "" "00324865" "1" "" "00006" "{PMID:Snow 1993:7902673}" "mother of Ind9" "F" "" "United States" "" "0" "" "" "" "FamInd4" "00324867" "" "" "00324865" "1" "" "00006" "{PMID:Snow 1993:7902673}" "sister Ind9" "F" "" "United States" "" "0" "" "" "" "FamInd8" "00428033" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A236" "00455505" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat1;H18" "00455506" "" "" "" "1" "" "00006" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "M" "" "Brazil" "" "0" "" "" "" "Pat2;H19" "00457145" "" "" "" "1" "" "00006" "{PMID:Jezela-Stanek 2021:33290290}" "" "M" "" "Poland" "" "0" "" "" "" "Pat1" "00458204" "" "" "" "1" "" "00006" "{PMID:Burruss 2012:22190500}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "Honduras" "" "0" "" "" "" "patient" "00472119" "" "" "" "1" "" "00006" "{PMID:Ibarluzea 2020:31906484}" "" "M" "" "Spain" "" "0" "" "" "" "ID1125" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 60 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00003130" "00262" "00025860" "02172" "00038647" "00187" "00038648" "00187" "00038650" "00000" "00038651" "00000" "00081844" "00000" "00081845" "00000" "00081846" "00000" "00081847" "00000" "00081848" "00000" "00081849" "00000" "00081850" "00000" "00081851" "04187" "00081852" "04187" "00081853" "04187" "00081854" "04187" "00081855" "04187" "00081856" "00000" "00081857" "00000" "00081858" "00000" "00081859" "04187" "00081860" "00000" "00081861" "00000" "00081862" "04187" "00081863" "00000" "00081864" "00000" "00081866" "00000" "00081867" "00198" "00081868" "04187" "00081869" "00000" "00081870" "00000" "00081871" "00000" "00081872" "00000" "00081873" "00000" "00081874" "00000" "00081876" "04187" "00081877" "04187" "00081878" "04187" "00081879" "00000" "00081880" "04187" "00081881" "00000" "00081882" "04187" "00081883" "04187" "00081885" "04187" "00295611" "00262" "00296773" "00139" "00299866" "00262" "00299867" "00262" "00324865" "00139" "00324866" "00000" "00324867" "00000" "00428033" "00198" "00455505" "05580" "00455506" "05580" "00457145" "02247" "00458204" "05580" "00472119" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00187, 00198, 00262, 01157, 02172, 02247, 02257, 04187, 05580 ## Count = 15 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{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}}" "0000001948" "00125" "00003130" "00548" "Familial, X-linked recessive" "16y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000021972" "02172" "00025860" "01173" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000029045" "00187" "00038647" "00124" "Familial, X-linked recessive" "" "for details contact Lucy Raymond" "" "" "" "" "" "" "" "" "" "" "" "" "0000029046" "00187" "00038648" "00124" "Familial, X-linked recessive" "" "for details contact Lucy Raymond" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000223175" "00262" "00295611" "00067" "Isolated (sporadic)" "04y05m" "Intellectual disability, poor attention span, hyperactivities, stereotypies, anxiety and multiple dysmorphic features" "" "" "" "" "" "" "" "" "" "Fragile X syndrome" "ID" "" "0000224172" "00139" "00296773" "00006" "Familial, X-linked recessive" "" "see paper; ..., severe intellectual disability" "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000227187" "00262" "00299866" "03656" "Familial, X-linked recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000318979" "00198" "00428033" "00006" "Familial, X-linked dominant" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344059" "05580" "00455505" "00006" "Unknown" "16y" "see paper; ...," "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" "" "0000344060" "05580" "00455506" "00006" "Unknown" "05y" "see paper; ..." "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" "" "0000345644" "02247" "00457145" "00006" "Familial, X-linked recessive" "" "see paper ...(detailed)" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" "" "0000346640" "05580" "00458204" "00006" "Isolated (sporadic)" "00y27m" "see paper; ..., poor latch, weak suck required bottle feedings; no epilepsy; severe fine motor delay, gross motor delay, language delay, intellectual disability; coarse face, prominent forehead, large ears, clear corneas, wide-spaced teeth, short thick neck; height/weight/OFC >97th percentile; severe generalized hypotonia with normal muscle bulk/decreased strength, hyperactive reflexes all limbs, ankle clonus, spastic paraparesis" "" "" "" "" "" "" "" "" "" "MPS2" "severe global neurodevelopmental delay" "" "0000356928" "00139" "00472119" "00006" "Familial, X-linked" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 62 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000003047" "00003130" "1" "00548" "00548" "2013-10-30 13:58:05" "" "" "SEQ" "DNA" "" "" "0000025862" "00025860" "1" "01173" "01173" "2014-12-16 20:47:45" "" "" "SEQ" "DNA" "blood" "" "0000038883" "00038647" "1" "00124" "00006" "2015-05-20 10:39:47" "" "" "SEQ" "DNA" "" "" "0000038884" "00038648" "1" "00124" "00006" "2015-05-20 10:39:47" "" "" "SEQ" "DNA" "" "" "0000038886" "00038650" "1" "00006" "00006" "2015-05-20 12:36:25" "" "" "SEQ" "DNA" "" "" "0000038887" "00038651" "1" "00006" "00006" "2015-05-20 12:48:57" "" "" "SEQ" "DNA" "" "" "0000081981" "00081844" "1" "01798" "01798" "2016-10-31 15:42:44" "" "" "SEQ-PB" "DNA" "blood" "" "0000081982" "00081845" "1" "01798" "01798" "2016-10-31 16:08:44" "" "" "SEQ-PB" "DNA" "blood" "" "0000081983" "00081846" "1" "01798" "01798" "2016-10-31 16:13:34" "" "" "SEQ-PB" "DNA" "blood" "" "0000081984" "00081847" "1" "01798" "01798" "2016-10-31 16:16:16" "" "" "SEQ-PB" "DNA" "blood" "" "0000081985" "00081848" "1" "01798" "01798" "2016-10-31 16:18:47" "" "" "SEQ-PB" "DNA" "blood" "" "0000081986" "00081849" "1" "01798" "01798" "2016-10-31 16:28:26" "00006" "2016-11-12 11:13:07" "SEQ-PB" "DNA" "blood" "" "0000081987" "00081850" "1" "01798" "01798" "2016-10-31 16:31:30" "00006" "2016-11-12 11:13:26" "SEQ-PB" "DNA" "blood" "" "0000081988" "00081851" "1" "01798" "01798" "2016-10-31 16:42:11" "" "" "SEQ-PB" "DNA" "blood" "" "0000081989" "00081852" "1" "01798" "01798" "2016-10-31 16:51:04" "" "" "SEQ-PB" "DNA" "" "" "0000081990" "00081853" "1" "01798" "01798" "2016-10-31 16:52:49" "" "" "SEQ-PB" "DNA" "" "" "0000081991" "00081854" "1" "01798" "01798" "2016-10-31 16:55:15" "" "" "SEQ-PB" "DNA" "" "" "0000081992" "00081855" "1" "01798" "01798" "2016-10-31 16:57:06" "" "" "SEQ-PB" "DNA" "blood" "" "0000081993" "00081856" "1" "01798" "01798" "2016-10-31 16:59:36" "" "" "SEQ-PB" "DNA" "blood" "" "0000081994" "00081857" "1" "01798" "01798" "2016-10-31 17:01:27" "" "" "SEQ-PB" "DNA" "blood" "" "0000081995" "00081858" "1" "01798" "01798" "2016-10-31 17:04:36" "" "" "SEQ-PB" "DNA" "" "" "0000081996" "00081859" "1" "01798" "01798" "2016-10-31 17:06:04" "" "" "SEQ-PB" "DNA" "" "" "0000081997" "00081860" "1" "01798" "01798" "2016-10-31 17:07:39" "" "" "SEQ-PB" "DNA" "blood" "" "0000081998" "00081861" "1" "01798" "01798" "2016-10-31 17:09:11" "" "" "SEQ-PB" "DNA" "blood" "" "0000081999" "00081862" "1" "01798" "01798" "2016-10-31 17:10:43" "" "" "SEQ-PB" "DNA" "blood" "" "0000082000" "00081863" "1" "01798" "01798" "2016-10-31 17:13:24" "" "" "SEQ-PB" "DNA" "blood" "" "0000082001" "00081864" "1" "01798" "01798" "2016-10-31 17:14:56" "" "" "SEQ-PB" "DNA" "" "" "0000082003" "00081866" "1" "01798" "01798" "2016-10-31 17:19:46" "" "" "SEQ-PB" "DNA" "blood" "" "0000082004" "00081867" "1" "01798" "01798" "2016-10-31 18:02:12" "" "" "SEQ-PB" "DNA" "" "" "0000082005" "00081868" "1" "01798" "01798" "2016-10-31 18:04:00" "" "" "SEQ-PB" "DNA" "blood" "" "0000082006" "00081869" "1" "01798" "01798" "2016-10-31 18:05:58" "" "" "SEQ-PB" "DNA" "blood" "" "0000082007" "00081870" "1" "01798" "01798" "2016-10-31 18:07:42" "" "" "SEQ-PB" "DNA" "blood" "" "0000082008" "00081871" "1" "01798" "01798" "2016-10-31 18:09:57" "" "" "SEQ-PB" "DNA" "blood" "" "0000082009" "00081872" "1" "01798" "01798" "2016-10-31 18:14:52" "" "" "SEQ-PB" "DNA" "blood" "" "0000082010" "00081873" "1" "01798" "01798" "2016-10-31 18:18:11" "" "" "SEQ-PB" "DNA" "blood" "" "0000082011" "00081874" "1" "01798" "01798" "2016-10-31 18:20:03" "" "" "SEQ-PB" "DNA" "blood" "" "0000082012" "00081875" "1" "01798" "01798" "2016-10-31 18:22:42" "" "" "SEQ-PB" "DNA" "blood" "" "0000082013" "00081876" "1" "01798" "01798" "2016-10-31 18:25:56" "" "" "SEQ-PB" "DNA" "blood" "" "0000082014" "00081877" "1" "01798" "01798" "2016-10-31 18:27:25" "" "" "SEQ-PB" "DNA" "blood" "" "0000082015" "00081878" "1" "01798" "01798" "2016-10-31 18:29:22" "" "" "SEQ-PB" "DNA" "blood" "" "0000082016" "00081879" "1" "01798" "01798" "2016-10-31 18:31:23" "" "" "SEQ-PB" "DNA" "blood" "" "0000082017" "00081880" "1" "01798" "01798" "2016-10-31 18:33:11" "" "" "SEQ-PB" "DNA" "blood" "" "0000082018" "00081881" "1" "01798" "01798" "2016-10-31 18:34:47" "" "" "SEQ-PB" "DNA" "blood" "" "0000082019" "00081882" "1" "01798" "01798" "2016-10-31 18:49:25" "" "" "SEQ-PB" "DNA" "blood" "" "0000082020" "00081883" "1" "01798" "01798" "2016-10-31 18:51:46" "" "" "SEQ-PB" "DNA" "blood" "" "0000082021" "00081884" "1" "01798" "01798" "2016-10-31 18:53:14" "" "" "SEQ-PB" "DNA" "blood" "" "0000082022" "00081885" "1" "01798" "01798" "2016-10-31 18:54:41" "" "" "SEQ-PB" "DNA" "blood" "" "0000296782" "00295611" "1" "00067" "00067" "2020-03-19 12:40:54" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000297883" "00296773" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "228-gene ID panel" "0000300981" "00299866" "1" "03656" "03656" "2020-04-21 17:24:25" "00006" "2020-04-27 09:39:08" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES, Sanger sequencing" "0000300982" "00299867" "1" "03656" "03656" "2020-04-21 17:50:34" "" "" "SEQ-NG" "DNA" "" "Sanger sequencing" "0000326072" "00324865" "1" "00006" "00006" "2020-12-24 10:53:08" "" "" "PAGE;PCR" "DNA" "" "" "0000326073" "00324866" "1" "00006" "00006" "2020-12-24 12:11:30" "" "" "PAGE;PCR" "DNA" "" "" "0000326074" "00324867" "1" "00006" "00006" "2020-12-24 12:16:30" "" "" "PAGE;PCR" "DNA" "" "" "0000429446" "00428033" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "singleton WES" "0000457119" "00455505" "1" "00006" "00006" "2024-10-10 19:29:58" "" "" "arraySNP;PCR" "DNA" "" "" "0000457120" "00455506" "1" "00006" "00006" "2024-10-10 19:34:59" "" "" "arraySNP;PCR" "DNA" "" "" "0000458763" "00457145" "1" "00006" "00006" "2024-10-31 21:30:41" "" "" "arrayCGH;MAPH" "DNA" "" "" "0000459825" "00458204" "1" "00006" "00006" "2024-12-08 16:16:24" "" "" "arrayCGH" "DNA" "" "" "0000473789" "00472119" "1" "00006" "00006" "2026-01-08 11:09:10" "" "" "SEQ;SEQ-NG" "DNA" "" "82-gene panel ID" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 56 "{{screeningid}}" "{{geneid}}" "0000003047" "FMR1" "0000025862" "FMR1" "0000038883" "FMR1" "0000038884" "FMR1" "0000038886" "FMR1" "0000038887" "FMR1" "0000081981" "FMR1" "0000081982" "FMR1" "0000081983" "FMR1" "0000081984" "FMR1" "0000081985" "FMR1" "0000081986" "FMR1" "0000081987" "FMR1" "0000081988" "FMR1" "0000081989" "FMR1" "0000081990" "FMR1" "0000081991" "FMR1" "0000081992" "FMR1" "0000081993" "FMR1" "0000081994" "FMR1" "0000081995" "FMR1" "0000081996" "FMR1" "0000081997" "FMR1" "0000081998" "FMR1" "0000081999" "FMR1" "0000082000" "FMR1" "0000082001" "FMR1" "0000082003" "FMR1" "0000082004" "FMR1" "0000082005" "FMR1" "0000082006" "FMR1" "0000082007" "FMR1" "0000082008" "FMR1" "0000082009" "FMR1" "0000082010" "FMR1" "0000082011" "FMR1" "0000082012" "FMR1" "0000082013" "FMR1" "0000082014" "FMR1" "0000082015" "FMR1" "0000082016" "FMR1" "0000082017" "FMR1" "0000082018" "FMR1" "0000082019" "FMR1" "0000082020" "FMR1" "0000082021" "FMR1" "0000082022" "FMR1" "0000296782" "FMR1" "0000297883" "FMR1" "0000326072" "FMR1" "0000326073" "FMR1" "0000326074" "FMR1" "0000457119" "IDS" "0000457120" "IDS" "0000458763" "IDS" "0000459825" "IDS" ## 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 = 145 "{{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}}" "0000002189" "20" "30" "X" "147026333" "147026333" "del" "0" "00037" "FMR1_000003" "g.147026333del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147944813del" "" "likely benign" "" "0000003285" "20" "30" "X" "147026330" "147026330" "del" "0" "00037" "FMR1_000011" "g.147026330del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147944810del" "" "likely benign" "" "0000007803" "20" "30" "X" "147003564" "147003564" "subst" "0" "00037" "FMR1_000007" "g.147003564T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147922046=" "" "likely benign" "" "0000007804" "20" "30" "X" "147019192" "147019192" "subst" "0" "00037" "FMR1_000008" "g.147019192G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147937673G>A" "" "likely benign" "" "0000007805" "20" "30" "X" "147031538" "147031538" "subst" "0" "00037" "FMR1_000004" "g.147031538C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147950018C>T" "" "likely benign" "" "0000009960" "20" "30" "X" "147019192" "147019192" "subst" "0" "00037" "FMR1_000008" "g.147019192G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147937673G>A" "" "likely benign" "" "0000009961" "20" "30" "X" "147031538" "147031538" "subst" "0" "00037" "FMR1_000004" "g.147031538C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147950018C>T" "" "likely benign" "" "0000011272" "20" "30" "X" "147026330" "147026330" "del" "0" "00037" "FMR1_000011" "g.147026330del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147944810del" "" "likely benign" "" "0000021576" "21" "95" "X" "147014110" "147014110" "subst" "0" "00548" "FMR1_000013" "g.147014110G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.147932591G>A" "" "pathogenic" "" "0000048872" "0" "90" "X" "147026530" "147026530" "dup" "0" "01173" "FMR1_000009" "g.147026530dup" "" "" "" "" "fs within the RGG box" "Unknown" "?" "" "0" "" "" "g.147945010dup" "" "pathogenic" "" "0000066683" "1" "30" "X" "147030322" "147030322" "subst" "0.000990365" "00124" "FMR1_000001" "g.147030322C>T" "1/208 families" "{PMID:Tarpey 2009:19377476}" "" "D619D" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.147948802C>T" "" "likely benign" "" "0000066684" "1" "30" "X" "147010320" "147010320" "subst" "0.0814244" "00124" "FMR1_000002" "g.147010320G>A" "21/208 families" "{PMID:Tarpey 2009:19377476}" "" "R138R" "recurrent, found 21 times" "Germline" "" "" "0" "" "" "g.147928802G>A" "" "likely benign" "" "0000066687" "0" "11" "X" "146993570" "146993629" "" "0" "00006" "FMR1_000014" "g.146993570_146993629GGC[14]" "1/406 chromosomes" "{PMID:Eichler 1995:08634688}, {DOI:Eichler 1995:10.1093/hmg/4.12.2199}" "" "" "" "Germline" "-" "" "0" "" "" "" "" "benign" "" "0000066688" "0" "30" "X" "146993570" "146993629" "" "0" "00006" "FMR1_000015" "g.146993570_146993629GGC[8]GGA[1]GGC[8]GGA[1]GGC[8]GGA[1]GGC[9]" "1/406 chromosomes" "{PMID:Eichler 1995:08634688}, {DOI:Eichler 1995:10.1093/hmg/4.12.2199}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "likely benign" "" "0000134752" "20" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000032" "g.146993570_146993629GGC[45]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134753" "20" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000035" "g.146993570_146993629GGC[32]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134754" "20" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000039" "g.146993570_146993629GGC[40]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134755" "20" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000050" "g.146993570_146993629GGC[49]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134756" "20" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000052" "g.146993570_146993629GGC[68]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134757" "20" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000062" "g.146993570_146993629GGC[59]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134758" "20" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000063" "g.146993570_146993629GGC[73]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134759" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000005" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134760" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000023" "g.146993570_146993629GGC[9]GGA[1]GGC[12]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134761" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000027" "g.146993570_146993629GGC[20]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134762" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134763" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000005" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134764" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000010" "g.146993570_146993629GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134765" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134766" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000020" "g.146993570_146993629GGC[16]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134767" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000010" "g.146993570_146993629GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134768" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134769" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000005" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134770" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134771" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134772" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134773" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134774" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000018" "g.146993570_146993629GGC[9]GGA[1]GGC[13]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134775" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000025" "g.146993570_146993629GGC[25]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134776" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134777" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000019" "g.146993570_146993629GGC[9]GGA[1]GGC[14]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134778" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000022" "g.146993570_146993629GGC[9]GGA[1]GGC[11]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134779" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000010" "g.146993570_146993629GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134780" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134781" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000021" "g.146993570_146993629GGC[17]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134782" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134783" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000005" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134784" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000017" "g.146993570_146993629GGC[10]GGA[1]GGC[12]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134785" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000024" "g.146993570_146993629GGC[13]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134786" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000026" "g.146993570_146993629GGC[39]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134787" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000006" "g.146993570_146993629GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134788" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000016" "g.146993570_146993629GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134789" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000010" "g.146993570_146993629GGC[20]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134790" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000029" "g.146993570_146993629GGC[21]GGA[1]GGC[20]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134791" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000028" "g.146993570_146993629GGC[21]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000134792" "1" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000047" "g.146993570_146993629GGC[45]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140366" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000038" "g.146993570_146993629GGC[47]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140367" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000034" "g.146993570_146993629GGC[10]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140368" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000055" "g.146993570_146993629GGC[60]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140369" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000049" "g.146993570_146993629GGC[67]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140370" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000058" "g.146993570_146993629GGC[53]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140371" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000054" "g.146993570_146993629GGC[50]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140372" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000056" "g.146993570_146993629GGC[52]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140373" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000066" "g.146993570_146993629GGC[72]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140374" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000040" "g.146993570_146993629GGC[49]GGA[1]GGC[11]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140375" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000046" "g.146993570_146993629GGC[54]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140376" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000065" "g.146993570_146993629GGC[79]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140377" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000037" "g.146993570_146993629GGC[37]GGA[1]GGC[7]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140378" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000060" "g.146993570_146993629GGC[76]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140379" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000063" "g.146993570_146993629GGC[73]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140380" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000057" "g.146993570_146993629GGC[62]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140381" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000051" "g.146993570_146993629GGC[59]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140382" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000068" "g.146993570_146993629GGC[92]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140383" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000053" "g.146993570_146993629GGC[69]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140384" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000044" "g.146993570_146993629GGC[53]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140385" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000061" "g.146993570_146993629GGC[67]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140386" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000069" "g.146993570_146993629GGC[86]GGA[1]GGC[7]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140387" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000047" "g.146993570_146993629GGC[45]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140388" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000036" "g.146993570_146993629GGC[33]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140389" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000048" "g.146993570_146993629GGC[47]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140390" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000043" "g.146993570_146993629GGC[43]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140391" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000042" "g.146993570_146993629GGC[42]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140392" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000064" "g.146993570_146993629GGC[71]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140393" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000047" "g.146993570_146993629GGC[45]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140394" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000041" "g.146993570_146993629GGC[51]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140395" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000045" "g.146993570_146993629GGC[44]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140396" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000031" "g.146993570_146993629GGC[25]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140397" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000033" "g.146993570_146993629GGC[27]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140398" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000030" "g.146993570_146993629GGC[23]GGA[1]GGC[9]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000140399" "2" "50" "X" "146993570" "146993629" "" "0" "01798" "FMR1_000059" "g.146993570_146993629GGC[56]GGA[1]GGC[7]GGA[1]GGC[9]" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000248809" "0" "10" "X" "147010263" "147010263" "subst" "0" "02325" "FMR1_000070" "g.147010263A>C" "" "" "" "FMR1(NM_002024.6):c.357A>C (p.K119N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147928745A>C" "" "benign" "" "0000280848" "0" "10" "X" "147018146" "147018146" "subst" "0.158525" "02325" "FMR1_000077" "g.147018146C>T" "" "" "" "FMR1(NM_002024.5):c.990+14C>T, FMR1(NM_002024.6):c.990+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147936627C>T" "" "benign" "" "0000287817" "0" "30" "X" "147026489" "147026489" "subst" "0.000991889" "01943" "FMR1_000080" "g.147026489C>T" "" "" "" "FMR1(NM_001185075.1):c.1301C>T (p.(Ala434Val)), FMR1(NM_002024.5):c.1572C>T (p.S524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147944969C>T" "" "likely benign" "" "0000287818" "0" "50" "X" "147030241" "147030241" "subst" "0" "01943" "FMR1_000082" "g.147030241T>C" "" "" "" "FMR1(NM_001185075.1):c.1505T>C (p.L502P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147948721T>C" "" "VUS" "" "0000287819" "0" "30" "X" "147030322" "147030322" "subst" "0.000990365" "01943" "FMR1_000001" "g.147030322C>T" "" "" "" "FMR1(NM_001185075.1):c.1586C>T (p.T529I, p.(Thr529Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147948802C>T" "" "likely benign" "" "0000287820" "0" "30" "X" "147010281" "147010281" "subst" "0.000588367" "01943" "FMR1_000071" "g.147010281T>C" "" "" "" "FMR1(NM_002024.5):c.375T>C (p.T125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147928763T>C" "" "likely benign" "" "0000287821" "0" "50" "X" "147010319" "147010319" "subst" "0.000106524" "01943" "FMR1_000072" "g.147010319G>A" "" "" "" "FMR1(NM_002024.5):c.413G>A (p.R138Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147928801G>A" "" "VUS" "" "0000287822" "0" "30" "X" "147013964" "147013964" "subst" "0.000588512" "01943" "FMR1_000073" "g.147013964G>A" "" "" "" "FMR1(NM_002024.5):c.651G>A (p.S217=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147932445G>A" "" "likely benign" "" "0000287823" "0" "30" "X" "147018124" "147018124" "subst" "0" "01943" "FMR1_000076" "g.147018124C>G" "" "" "" "FMR1(NM_002024.5):c.982C>G (p.Q328E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147936605C>G" "" "likely benign" "" "0000287824" "0" "10" "X" "147018146" "147018146" "subst" "0.158525" "01943" "FMR1_000077" "g.147018146C>T" "" "" "" "FMR1(NM_002024.5):c.990+14C>T, FMR1(NM_002024.6):c.990+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147936627C>T" "" "benign" "" "0000335815" "0" "50" "X" "147024700" "147024700" "subst" "0" "01804" "FMR1_000078" "g.147024700G>A" "" "" "" "FMR1(NM_002024.5):c.1325G>A (p.(Arg442Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147943180G>A" "" "VUS" "" "0000335816" "0" "50" "X" "147030207" "147030218" "del" "0" "01804" "FMR1_000081" "g.147030207_147030218del" "" "" "" "FMR1(NM_002024.5):c.1740_1751del (p.(Arg581_Cys584del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.147948687_147948698del" "" "VUS" "" "0000574001" "0" "10" "X" "147010320" "147010320" "subst" "0.0814244" "01943" "FMR1_000002" "g.147010320G>A" "" "" "" "FMR1(NM_002024.5):c.414G>A (p.R138=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147928802G>A" "" "benign" "" "0000574002" "0" "30" "X" "147011459" "147011459" "subst" "1.85675E-5" "01804" "FMR1_000083" "g.147011459A>T" "" "" "" "FMR1(NM_001185075.1):c.420-8A>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147929940A>T" "" "likely benign" "" "0000574005" "0" "50" "X" "147011547" "147011547" "subst" "0" "02329" "FMR1_000086" "g.147011547A>C" "" "" "" "FMR1(NM_002024.6):c.500A>C (p.Q167P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147930028A>C" "" "VUS" "" "0000574006" "0" "50" "X" "147018983" "147018983" "subst" "0" "01943" "FMR1_000087" "g.147018983A>G" "" "" "" "FMR1(NM_002024.5):c.991-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147937464A>G" "" "VUS" "" "0000574007" "0" "50" "X" "147024736" "147024736" "subst" "0" "01943" "FMR1_000088" "g.147024736G>C" "" "" "" "FMR1(NM_002024.5):c.1361G>C (p.R454P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147943216G>C" "" "VUS" "" "0000574008" "0" "30" "X" "147026489" "147026489" "subst" "0.000991889" "01804" "FMR1_000080" "g.147026489C>T" "" "" "" "FMR1(NM_001185075.1):c.1301C>T (p.(Ala434Val)), FMR1(NM_002024.5):c.1572C>T (p.S524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147944969C>T" "" "likely benign" "" "0000574009" "0" "30" "X" "147027144" "147027144" "subst" "0.007156" "01804" "FMR1_000089" "g.147027144C>A" "" "" "" "FMR1(NM_001185075.1):c.1466+8C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147945624C>A" "" "likely benign" "" "0000574010" "0" "50" "X" "147030210" "147030210" "subst" "0" "02325" "FMR1_000090" "g.147030210T>C" "" "" "" "FMR1(NM_002024.6):c.1745T>C (p.V582A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147948690T>C" "" "VUS" "" "0000619094" "0" "30" "X" "146993733" "146993733" "subst" "0" "01943" "FMR1_000091" "g.146993733T>C" "" "" "" "FMR1(NM_002024.5):c.36T>C (p.N12=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147912215T>C" "" "likely benign" "" "0000619095" "0" "30" "X" "147019028" "147019028" "subst" "0.000106411" "01943" "FMR1_000092" "g.147019028T>C" "" "" "" "FMR1(NM_002024.5):c.1034T>C (p.V345A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147937509T>C" "" "likely benign" "" "0000653491" "0" "90" "X" "147014114" "147014114" "subst" "0" "00067" "FMR1_000093" "g.147014114G>A" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.147932595G>A" "" "likely pathogenic" "" "0000659118" "0" "30" "X" "147010331" "147010331" "subst" "0" "01943" "FMR1_000094" "g.147010331T>C" "" "" "" "FMR1(NM_002024.5):c.419+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147928813T>C" "" "likely benign" "" "0000659119" "0" "30" "X" "147014027" "147014027" "subst" "5.60284E-5" "01943" "FMR1_000095" "g.147014027T>C" "" "" "" "FMR1(NM_002024.5):c.714T>C (p.G238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147932508T>C" "" "likely benign" "" "0000659120" "0" "30" "X" "147030322" "147030322" "subst" "0.000990365" "01804" "FMR1_000001" "g.147030322C>T" "" "" "" "FMR1(NM_001185075.1):c.1586C>T (p.T529I, p.(Thr529Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.147948802C>T" "" "likely benign" "" "0000660583" "21" "90" "X" "147030202" "147030365" "del" "0" "00006" "FMR1_000096" "g.(147027137_147030202)_(147030365_?)del" "" "{PMID:Redin 2014:25167861}" "" "" "" "Germline" "yes" "" "0" "" "" "g.(147945617_147948682)_(147948845_?)del" "" "pathogenic (recessive)" "" "0000663877" "0" "90" "X" "147019015" "147019022" "delins" "0" "03656" "FMR1_000097" "g.147019015_147019022delinsTATTGG" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.147937496_147937503delinsTATTGG" "" "pathogenic (recessive)" "" "0000663878" "0" "70" "X" "147018022" "147018022" "subst" "0" "03656" "FMR1_000098" "g.147018022G>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.147936503G>T" "" "likely pathogenic (recessive)" "" "0000682156" "0" "70" "X" "147003504" "147003504" "subst" "0" "01804" "FMR1_000099" "g.147003504G>A" "" "" "" "FMR1(NM_002024.5):c.104+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000709345" "21" "70" "X" "146993554" "146993682" "" "0" "00006" "FMR1_000100" "g.(146993554_146993682)insN[93]" "" "{PMID:Snow 1993:7902673}" "" "" "" "Germline" "" "" "0" "" "" "g.(147912036_147912164)insN[93]" "" "likely pathogenic (recessive)" "" "0000709346" "11" "10" "X" "146993554" "146993682" "" "0" "00006" "FMR1_000101" "g.(146993554_146993682)=" "" "{PMID:Snow 1993:7902673}" "" "" "" "Germline" "" "" "0" "" "" "g.(147912036_147912164)=" "" "benign" "" "0000709347" "21" "70" "X" "146993554" "146993682" "" "0" "00006" "FMR1_000100" "g.(146993554_146993682)insN[93]" "" "{PMID:Snow 1993:7902673}" "" "" "" "Germline" "" "" "0" "" "" "g.(147912036_147912164)insN[93]" "" "likely pathogenic (recessive)" "" "0000709348" "21" "10" "X" "146993554" "146993682" "" "0" "00006" "FMR1_000101" "g.(146993554_146993682)=" "" "{PMID:Snow 1993:7902673}" "" "" "" "Germline" "" "" "0" "" "" "g.(147912036_147912164)=" "" "benign" "" "0000709349" "10" "10" "X" "146993554" "146993682" "" "0" "00006" "FMR1_000102" "g.(146993554_146993682)insN[9]" "" "{PMID:Snow 1993:7902673}" "" "" "" "Germline" "" "" "0" "" "" "g.(147912036_147912164)insN[9]" "" "benign" "" "0000728502" "0" "90" "X" "147024786" "147024786" "subst" "0" "02329" "FMR1_000079" "g.147024786C>T" "" "" "" "FMR1(NM_002024.6):c.1411C>T (p.R471*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000728503" "0" "50" "X" "147030346" "147030346" "subst" "0.000279766" "01943" "FMR1_000103" "g.147030346C>T" "" "" "" "FMR1(NM_001185075.1):c.1610C>T (p.S537L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809984" "0" "50" "X" "147030266" "147030266" "subst" "0" "02325" "FMR1_000104" "g.147030266G>A" "" "" "" "FMR1(NM_002024.6):c.1801G>A (p.E601K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867117" "0" "30" "X" "147010257" "147010257" "subst" "1.12172E-5" "01943" "FMR1_000105" "g.147010257C>T" "" "" "" "FMR1(NM_002024.5):c.351C>T (p.P117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867118" "0" "30" "X" "147014220" "147014220" "subst" "0.000291264" "02325" "FMR1_000075" "g.147014220A>G" "" "" "" "FMR1(NM_002024.6):c.818A>G (p.K273R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867119" "0" "50" "X" "147014246" "147014246" "subst" "0" "01943" "FMR1_000106" "g.147014246G>T" "" "" "" "FMR1(NM_002024.5):c.844G>T (p.A282S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895962" "0" "50" "X" "147019097" "147019097" "subst" "0" "02325" "FMR1_000107" "g.147019097C>T" "" "" "" "FMR1(NM_002024.6):c.1103C>T (p.P368L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000908919" "0" "90" "X" "147009911" "147009911" "subst" "0" "00006" "FMR1_000108" "g.147009911G>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.147928393G>A" "" "pathogenic (dominant)" "" "0000927605" "0" "50" "X" "147027072" "147027072" "subst" "2.24443E-5" "03779" "FMR1_000109" "g.147027072G>A" "" "" "" "" "" "Unknown" "" "rs372019441" "0" "" "" "" "" "VUS" "" "0000951693" "0" "70" "X" "147014040" "147014040" "subst" "0" "02326" "FMR1_000110" "g.147014040C>T" "" "" "" "FMR1(NM_002024.5):c.727C>T (p.Q243*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000984496" "0" "30" "X" "147011655" "147011655" "subst" "0.000246461" "01804" "FMR1_000111" "g.147011655T>A" "" "" "" "FMR1(NM_002024.6):c.522T>A (p.(Asn174Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001011566" "21" "90" "X" "139990405" "149404134" "del" "0" "00006" "IDS_000348" "g.(?_139990405)_(149404134_?)del" "" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "" "9.4 Mb deletion incl. FMR1, AFF2, IDS" "Germline" "" "" "0" "" "hg19 arr Xq27.1Xq28(139,990,405–149,404,134)x0" "g.(?_140908874)_(150322604_?)del" "" "pathogenic (recessive)" "" "0001011567" "0" "90" "X" "144726761" "148623869" "del" "0" "00006" "IDS_000349" "g.(?_144726761)_(148623869_?)del" "" "{PMID:Brusius-Facchin 2012:22492741}, {PMID:Brusius-Facchin 2014:24125893}" "" "" "3.9Mb deletion incl. FMR1, AFF2, IDS" "Germline/De novo (untested)" "" "" "0" "" "hg19 arr Xq27.3Xq28(144,726,761–148,623,869)x0" "g.(?_145645230)_(149542339_?)del" "" "pathogenic (recessive)" "" "0001016327" "0" "90" "X" "140414526" "149682984" "del" "0" "00006" "IDS_000668" "g.(?_140414526)_(149682984_?)del" "" "{PMID:Jezela-Stanek 2021:33290290}" "" "" "9.27 Mb deletion incl. AFF2, FMR1, IDS, MAMLD1" "Germline/De novo (untested)" "" "" "0" "" "hg19 Xq27.2q28(140414526_149682984)×0" "g.(?_141326740)_(150595198_?)del" "" "pathogenic (recessive)" "" "0001018761" "0" "90" "X" "146279382" "149475495" "del" "0" "00006" "IDS_000836" "g.(?_146279382)_(149475495_?)del" "" "{PMID:Burruss 2012:22190500}" "" "hg18 146087287-149283399del" "3.2Mb deletion including IDS, FMR1, AFF2" "De novo" "" "" "0" "" "" "g.(?_147197851)_(150393965_?)del" "" "pathogenic (recessive)" "" "0001044149" "0" "50" "X" "147030238" "147030238" "subst" "1.1189E-5" "01804" "FMR1_000112" "g.147030238C>G" "" "" "" "FMR1(NM_002024.6):c.1773C>G (p.(His591Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057421" "0" "50" "X" "147019672" "147019672" "subst" "0" "01804" "FMR1_000113" "g.147019672G>A" "" "" "" "FMR1(NM_002024.6):c.1180G>A (p.(Ala394Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057422" "0" "30" "X" "147026499" "147026499" "subst" "0" "01804" "FMR1_000114" "g.147026499A>G" "" "" "" "FMR1(NM_002024.6):c.1582A>G (p.(Arg528Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001062673" "21" "50" "X" "147030281" "147030281" "subst" "1.11921E-5" "00006" "FMR1_000115" "g.147030281C>T" "" "{PMID:Ibarluzea 2020:31906484}" "" "" "ACMG PM1, PM2" "Germline" "" "rs782778170" "0" "maternal X-inactivation 0.83" "" "g.147948761C>T" "" "VUS" "ACMG" "0001067800" "0" "30" "X" "147026383" "147026383" "subst" "1.7431E-5" "02325" "FMR1_000116" "g.147026383C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001067801" "0" "50" "X" "147030238" "147030238" "subst" "1.1189E-5" "02325" "FMR1_000112" "g.147030238C>G" "" "" "" "FMR1(NM_002024.6):c.1773C>G (p.(His591Gln))" "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 FMR1 ## Count = 145 "{{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}}" "{{VariantOnTranscript/Haplotype}}" "0000002189" "00000997" "30" "1472" "-56" "1472" "-56" "c.1472-56del" "r.(?)" "p.(=)" "14i" "" "0000003285" "00000997" "30" "1472" "-59" "1472" "-59" "c.1472-59del" "r.(?)" "p.(=)" "14i" "" "0000007803" "00000997" "30" "104" "61" "104" "61" "c.104+61T>C" "r.(?)" "p.(=)" "2i" "" "0000007804" "00000997" "30" "1125" "73" "1125" "73" "c.1125+73G>A" "r.(?)" "p.(=)" "11i" "" "0000007805" "00000997" "30" "3073" "0" "3073" "0" "c.*1174C>T" "r.(?)" "p.(=)" "17" "" "0000009960" "00000997" "30" "1125" "73" "1125" "73" "c.1125+73G>A" "r.(?)" "p.(=)" "11i" "" "0000009961" "00000997" "30" "3073" "0" "3073" "0" "c.*1174C>T" "r.(?)" "p.(=)" "17" "" "0000011272" "00000997" "30" "1472" "-59" "1472" "-59" "c.1472-59del" "r.(?)" "p.(=)" "14i" "" "0000021576" "00000997" "95" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Gly266Glu)" "8" "" "0000048872" "00000997" "90" "1613" "0" "1613" "0" "c.1613dup" "r.(?)" "p.(Arg539Lysfs*23)" "15" "" "0000066683" "00000997" "30" "1857" "0" "1857" "0" "c.1857C>T" "r.(?)" "p.(Asp619=)" "17" "" "0000066684" "00000997" "30" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Arg138=)" "5" "" "0000066687" "00000997" "11" "-128" "0" "-69" "0" "c.-128_-69GGC[14]" "r.(?)" "p.(=)" "1" "GGM[14]-14" "0000066688" "00000997" "30" "-128" "0" "-69" "0" "c.-128_-69GGC[8]GGA[1]GGC[8]GGA[1]GGC[8]GGA[1]GGC[9]" "r.(?)" "p.(=)" "1" "GGM[36]-8-1-8-1-8-1-9" "0000134752" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[45]" "r.(?)" "p.?" "1" "GGM[45]-45" "0000134753" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[32]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[52]-32-1-9-1-9" "0000134754" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[40]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[60]-40-1-9-1-9" "0000134755" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[49]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[69]-49-1-9-1-9" "0000134756" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[68]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[69]-68-1-9" "0000134757" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[59]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[78]-59-1-9-1-9" "0000134758" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[73]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[79]-73-1-9-1-9" "0000134759" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[29]-9-1-9-1-9" "0000134760" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[12]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[32]-9-1-12-1-9" "0000134761" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[20]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[40]-20-1-9-1-9" "0000134762" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134763" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[29]-9-1-9-1-9" "0000134764" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[31]-10-1-9-1-10" "0000134765" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134766" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[16]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[26]-16-1-9" "0000134767" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[31]-10-1-9-1-10" "0000134768" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134769" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[29]-9-1-9-1-9" "0000134770" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134771" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134772" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134773" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134774" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[13]" "r.(?)" "p.?" "1" "GGM[23]-9-1-13" "0000134775" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[25]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[36]-25-1-10" "0000134776" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134777" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[14]" "r.(?)" "p.?" "1" "GGM[24]-9-1-14" "0000134778" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[11]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[31]-9-1-11-1-9" "0000134779" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[31]-10-1-9-1-10" "0000134780" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134781" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[17]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[27]-17-1-9" "0000134782" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134783" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[29]-9-1-9-1-9" "0000134784" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[10]GGA[1]GGC[12]" "r.(?)" "p.?" "1" "GGM[23]-10-1-12" "0000134785" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[13]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[33]-13-1-9-1-9" "0000134786" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[39]" "r.(?)" "p.?" "1" "GGM[39]-39" "0000134787" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[30]-9-1-9-1-10" "0000134788" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[20]-9-1-10" "0000134789" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[20]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[31]-20-1-9-1-10" "0000134790" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[21]GGA[1]GGC[20]" "r.(?)" "p.?" "1" "GGM[42]-21-1-20" "0000134791" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[21]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[41]-21-1-9-1-9" "0000134792" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[45]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[65]-45-1-9-1-9" "0000140366" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[47]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[58]-47-1-10" "0000140367" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[10]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[9]GGA[1]GGC[10]" "r.(?)" "p.?" "1" "GGM[51]-10-1-9-1-9-1-9-1-10" "0000140368" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[60]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[70]-60-1-9" "0000140369" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[67]" "r.(?)" "p.?" "1" "GGM[67]-67" "0000140370" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[53]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[73]-53-1-9-1-9" "0000140371" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[50]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[70]-50-1-9-1-9" "0000140372" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[52]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[72]-52-1-9-1-9" "0000140373" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[72]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[92]-72-1-9-1-9" "0000140374" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[49]GGA[1]GGC[11]" "r.(?)" "p.?" "1" "GGM[61]-49-1-11" "0000140375" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[54]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[64]-54-1-9" "0000140376" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[79]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[89]-79-1-9" "0000140377" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[37]GGA[1]GGC[7]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[55]-37-1-7-1-9" "0000140378" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[76]" "r.(?)" "p.?" "1" "GGM[76]-76" "0000140379" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[73]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[93]-73-1-9-1-9" "0000140380" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[62]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[72]-62-1-9" "0000140381" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[59]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[69]-59-1-9" "0000140382" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[92]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[102]-92-1-9" "0000140383" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[69]" "r.(?)" "p.?" "1" "GGM[69]-69" "0000140384" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[53]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[63]-53-1-9" "0000140385" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[67]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[77]-67-1-9" "0000140386" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[86]GGA[1]GGC[7]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[104]-86-1-7-1-9" "0000140387" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[45]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[65]-45-1-9-1-9" "0000140388" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[33]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[53]-33-1-9-1-9" "0000140389" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[47]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[67]-47-1-9-1-9" "0000140390" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[43]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[63]-43-1-9-1-9" "0000140391" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[42]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[62]-42-1-9-1-9" "0000140392" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[71]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[81]-71-1-9" "0000140393" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[45]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[65]-45-1-9-1-9" "0000140394" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[51]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[61]-51-1-9" "0000140395" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[44]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[64]-44-1-9-1-9" "0000140396" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[25]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[45]-25-1-9-1-9" "0000140397" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[27]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[47]-27-1-9-1-9" "0000140398" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[23]GGA[1]GGC[9]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[43]-23-1-9-1-9" "0000140399" "00000997" "50" "-128" "0" "-69" "0" "c.-128_-69GGC[56]GGA[1]GGC[7]GGA[1]GGC[9]" "r.(?)" "p.?" "1" "GGM[74]-56-1-7-1-9" "0000248809" "00000997" "10" "357" "0" "357" "0" "c.357A>C" "r.(?)" "p.(Lys119Asn)" "" "" "0000280848" "00000997" "10" "990" "14" "990" "14" "c.990+14C>T" "r.(=)" "p.(=)" "" "" "0000287817" "00000997" "30" "1572" "0" "1572" "0" "c.1572C>T" "r.(?)" "p.(Ser524=)" "" "" "0000287818" "00000997" "50" "1776" "0" "1776" "0" "c.1776T>C" "r.(?)" "p.(Thr592=)" "" "" "0000287819" "00000997" "30" "1857" "0" "1857" "0" "c.1857C>T" "r.(?)" "p.(Asp619=)" "" "" "0000287820" "00000997" "30" "375" "0" "375" "0" "c.375T>C" "r.(?)" "p.(Thr125=)" "" "" "0000287821" "00000997" "50" "413" "0" "413" "0" "c.413G>A" "r.(?)" "p.(Arg138Gln)" "" "" "0000287822" "00000997" "30" "651" "0" "651" "0" "c.651G>A" "r.(?)" "p.(Ser217=)" "" "" "0000287823" "00000997" "30" "982" "0" "982" "0" "c.982C>G" "r.(?)" "p.(Gln328Glu)" "" "" "0000287824" "00000997" "10" "990" "14" "990" "14" "c.990+14C>T" "r.(=)" "p.(=)" "" "" "0000335815" "00000997" "50" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442Gln)" "" "" "0000335816" "00000997" "50" "1742" "0" "1753" "0" "c.1742_1753del" "r.(?)" "p.(Arg581_Cys584del)" "" "" "0000574001" "00000997" "10" "414" "0" "414" "0" "c.414G>A" "r.(?)" "p.(Arg138=)" "" "" "0000574002" "00000997" "30" "420" "-8" "420" "-8" "c.420-8A>T" "r.(=)" "p.(=)" "" "" "0000574005" "00000997" "50" "500" "0" "500" "0" "c.500A>C" "r.(?)" "p.(Gln167Pro)" "" "" "0000574006" "00000997" "50" "991" "-2" "991" "-2" "c.991-2A>G" "r.spl?" "p.?" "" "" "0000574007" "00000997" "50" "1361" "0" "1361" "0" "c.1361G>C" "r.(?)" "p.(Arg454Pro)" "" "" "0000574008" "00000997" "30" "1572" "0" "1572" "0" "c.1572C>T" "r.(?)" "p.(Ser524=)" "" "" "0000574009" "00000997" "30" "1737" "8" "1737" "8" "c.1737+8C>A" "r.(=)" "p.(=)" "" "" "0000574010" "00000997" "50" "1745" "0" "1745" "0" "c.1745T>C" "r.(?)" "p.(Val582Ala)" "" "" "0000619094" "00000997" "30" "36" "0" "36" "0" "c.36T>C" "r.(?)" "p.(Asn12=)" "" "" "0000619095" "00000997" "30" "1034" "0" "1034" "0" "c.1034T>C" "r.(?)" "p.(Val345Ala)" "" "" "0000653491" "00000997" "90" "801" "0" "801" "0" "c.801G>A" "r.spl?" "p.(Glu267=)" "8" "" "0000659118" "00000997" "30" "419" "6" "419" "6" "c.419+6T>C" "r.(=)" "p.(=)" "" "" "0000659119" "00000997" "30" "714" "0" "714" "0" "c.714T>C" "r.(?)" "p.(Gly238=)" "" "" "0000659120" "00000997" "30" "1857" "0" "1857" "0" "c.1857C>T" "r.(?)" "p.(Asp619=)" "" "" "0000660583" "00000997" "90" "1738" "-1" "1900" "0" "c.(1737+1_1738-1)_(*1_?)del" "r.?" "p.?" "16i_17_" "" "0000663877" "00000997" "90" "1021" "0" "1028" "0" "c.1021_1028delinsTATTGG" "r.1021-1028delinsuauugg" "p.Asn341Tyrfs*7" "" "" "0000663878" "00000997" "70" "881" "-1" "881" "-1" "c.881-1G>T" "r.spl" "p.?" "" "" "0000682156" "00000997" "70" "104" "1" "104" "1" "c.104+1G>A" "r.spl?" "p.?" "" "" "0000709345" "00000997" "70" "-144" "0" "-16" "0" "c.(-144_-16)ins(93)" "r.(?)" "p.(=)" "1" "GGM[51]" "0000709346" "00000997" "10" "-144" "0" "-16" "0" "c.(-144_-16)=" "r.(?)" "p.(=)" "" "GGM[20]" "0000709347" "00000997" "70" "-144" "0" "-16" "0" "c.(-144_-16)ins(93)" "r.(?)" "p.(=)" "" "GGM[51]" "0000709348" "00000997" "10" "-144" "0" "-16" "0" "c.(-144_-16)=" "r.(?)" "p.(=)" "" "GGM[20]" "0000709349" "00000997" "10" "-144" "0" "-16" "0" "c.(-144_-16)ins(9)" "r.(?)" "p.(=)" "" "GGM[23]" "0000728502" "00000997" "90" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Arg471Ter)" "" "" "0000728503" "00000997" "50" "1881" "0" "1881" "0" "c.1881C>T" "r.(?)" "p.(Leu627=)" "" "" "0000809984" "00000997" "50" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Glu601Lys)" "" "" "0000867117" "00000997" "30" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(Pro117=)" "" "" "0000867118" "00000997" "30" "818" "0" "818" "0" "c.818A>G" "r.(?)" "p.(Lys273Arg)" "" "" "0000867119" "00000997" "50" "844" "0" "844" "0" "c.844G>T" "r.(?)" "p.(Ala282Ser)" "" "" "0000895962" "00000997" "50" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Pro368Leu)" "" "" "0000908919" "00000997" "90" "270" "0" "270" "0" "c.270G>A" "r.199_270del" "p.Val67_Glu90del" "" "" "0000927605" "00000997" "50" "1673" "0" "1673" "0" "c.1673G>A" "r.(?)" "p.(Arg558Gln)" "" "" "0000951693" "00000997" "70" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Gln243*)" "" "" "0000984496" "00000997" "30" "522" "0" "522" "0" "c.522T>A" "r.(?)" "p.(Asn174Lys)" "" "" "0001011566" "00000997" "90" "-7003293" "0" "2375669" "0" "c.-7003293_*2373770del" "r.0" "p.0" "" "" "0001011567" "00000997" "90" "-2266950" "0" "1595394" "0" "c.-2266950_*1593495del" "r.0" "p.0" "" "" "0001016327" "00000997" "90" "-6579172" "0" "2654519" "0" "c.(?_-6579172)_(*2652620_?)del" "r.0" "p.0" "" "" "0001018761" "00000997" "90" "0" "0" "0" "0" "c.-(?_714329)_(*2445121_?)del" "r.0" "p.0" "" "" "0001044149" "00000997" "50" "1773" "0" "1773" "0" "c.1773C>G" "r.(?)" "p.(His591Gln)" "" "" "0001057421" "00000997" "50" "1180" "0" "1180" "0" "c.1180G>A" "r.(?)" "p.(Ala394Thr)" "" "" "0001057422" "00000997" "30" "1582" "0" "1582" "0" "c.1582A>G" "r.(?)" "p.(Arg528Gly)" "" "" "0001062673" "00000997" "50" "1816" "0" "1816" "0" "c.1816C>T" "r.(?)" "p.(Arg606Cys)" "" "" "0001067800" "00000997" "30" "1472" "-6" "1472" "-6" "c.1472-6C>T" "r.(=)" "p.(=)" "" "" "0001067801" "00000997" "50" "1773" "0" "1773" "0" "c.1773C>G" "r.(?)" "p.(His591Gln)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 104 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002189" "0000000209" "0000003285" "0000000209" "0000007803" "0000000209" "0000007804" "0000000209" "0000007805" "0000000210" "0000009960" "0000000210" "0000009961" "0000000210" "0000011272" "0000003047" "0000021576" "0000025862" "0000048872" "0000038883" "0000066683" "0000038884" "0000066684" "0000038886" "0000066687" "0000038887" "0000066688" "0000081981" "0000134752" "0000081982" "0000134753" "0000081983" "0000134754" "0000081984" "0000134755" "0000081985" "0000134756" "0000081986" "0000134757" "0000081987" "0000134758" "0000081988" "0000134759" "0000081988" "0000140366" "0000081989" "0000134760" "0000081989" "0000140367" "0000081990" "0000134761" "0000081990" "0000140368" "0000081991" "0000134762" "0000081991" "0000140369" "0000081992" "0000134763" "0000081992" "0000140370" "0000081993" "0000134764" "0000081993" "0000140371" "0000081994" "0000134765" "0000081994" "0000140372" "0000081995" "0000134766" "0000081995" "0000140373" "0000081996" "0000134767" "0000081996" "0000140374" "0000081997" "0000134768" "0000081997" "0000140375" "0000081998" "0000134769" "0000081998" "0000140376" "0000081999" "0000134770" "0000081999" "0000140377" "0000082000" "0000134771" "0000082000" "0000140378" "0000082001" "0000134772" "0000082001" "0000140379" "0000082003" "0000134773" "0000082003" "0000140380" "0000082004" "0000134774" "0000082004" "0000140381" "0000082005" "0000134775" "0000082005" "0000140382" "0000082006" "0000134776" "0000082006" "0000140383" "0000082007" "0000134777" "0000082007" "0000140384" "0000082008" "0000134778" "0000082008" "0000140385" "0000082009" "0000134779" "0000082009" "0000140386" "0000082010" "0000134780" "0000082010" "0000140387" "0000082011" "0000134781" "0000082011" "0000140388" "0000082012" "0000134782" "0000082012" "0000140389" "0000082013" "0000134783" "0000082013" "0000140390" "0000082014" "0000134784" "0000082014" "0000140391" "0000082015" "0000134785" "0000082015" "0000140392" "0000082016" "0000134786" "0000082016" "0000140393" "0000082017" "0000134787" "0000082017" "0000140394" "0000082018" "0000134788" "0000082018" "0000140395" "0000082019" "0000134789" "0000082019" "0000140396" "0000082020" "0000134790" "0000082020" "0000140397" "0000082021" "0000134791" "0000082021" "0000140398" "0000082022" "0000134792" "0000082022" "0000140399" "0000296782" "0000653491" "0000297883" "0000660583" "0000300981" "0000663877" "0000300982" "0000663878" "0000326072" "0000709345" "0000326073" "0000709346" "0000326073" "0000709347" "0000326074" "0000709348" "0000326074" "0000709349" "0000429446" "0000908919" "0000457119" "0001011566" "0000457120" "0001011567" "0000458763" "0001016327" "0000459825" "0001018761" "0000473789" "0001062673"