### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AFF2) # 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}}" "AFF2" "AF4/FMR2 family, member 2" "X" "q28" "unknown" "NG_016313.1" "UD_132085234405" "" "https://www.LOVD.nl/AFF2" "" "1" "3776" "2334" "300806" "1" "1" "1" "1" "This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/AFF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2009-03-06 14:29:48" "00006" "2018-07-25 10:30:33" "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}}" "00025302" "AFF2" "transcript variant 1" "001" "NM_002025.3" "" "NP_002016.2" "" "" "" "-479" "13267" "3936" "147582139" "148082193" "00006" "2018-07-25 10:21:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "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" "00840" "XLID109" "intellectual developmental disorder, X-linked, type 109 (FRAXE type)" "XLR" "309548" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-10-24 11:23:59" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "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" "04281" "CDLS" "Cornelia de Lange syndrome (CDLS)" "" "" "" "" "" "00006" "2015-06-15 14:50:45" "" "" "05330" "TSC" "tuberous sclerosis" "" "" "" "" "" "00006" "2017-09-19 09:35:08" "00006" "2022-08-19 09:49:37" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05580" "MPS" "mucopolysaccharidosis (MPS)" "" "" "" "" "" "00006" "2019-03-01 09:43:46" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "AFF2" "00139" "AFF2" "00840" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00000019" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "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" "" "" "" "" "00168112" "" "" "" "1" "" "02537" "{PMID:Du 2018:30555518}" "" "M" "" "China" "" "0" "" "" "" "" "00172442" "" "" "" "7" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172443" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00172444" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00307712" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411410" "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" "00456114" "" "" "" "1" "" "04764" "" "" "M" "no" "Spain" "" "" "" "" "" "" "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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00000019" "00138" "00000019" "05330" "00000019" "05378" "00000208" "01157" "00000209" "01157" "00168112" "00138" "00172442" "00187" "00172443" "00187" "00172444" "00187" "00307712" "00139" "00455505" "05580" "00455506" "05580" "00456114" "04281" "00457145" "02247" "00458204" "05580" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00187, 00840, 01157, 02247, 04281, 05330, 05378, 05580 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Seizures}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "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" "" "" "" "" "" "" "" "" "" "" "0000135707" "00138" "00168112" "02537" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000137306" "00187" "00172442" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137307" "00187" "00172443" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000137308" "00187" "00172444" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000344059" "05580" "00455505" "00006" "Unknown" "16y" "see paper; ...," "" "" "" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" "0000344060" "05580" "00455506" "00006" "Unknown" "05y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "MPS2" "mucopolysaccharidosis" "0000344633" "04281" "00456114" "04764" "Familial, X-linked" "" "- Synophrys (HP:0000664), thick eyebrows (HP:0000574), long philtrum (HP:0000343), thin upper lip vermilion (HP:0000219) with downturned corners of the mouth (HP:0002714), microcephaly (HP:0000252), short fifth finger (HP:0009237).\r\n\r\n- Gastroesophageal reflux (HP:0002020).\r\n\r\n- Abnormal\theart\tmorphology (HP:0001627).\r\n\r\n- Absent speech (HP:0002300), hyperactivity (HP:0000752), short attention span (HP:0000736), self-injurious behavior (HP:0100716)." "" "" "" "" "" "" "" "" "" "" "" "" "" "Cornelia de Lange syndrome" "He was clinically diagnosed with Cornelia de Lange syndrome." "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" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000019" "00000019" "1" "00004" "" "2012-05-11 13:18:40" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000168984" "00168112" "1" "02537" "02537" "2018-07-20 08:50:37" "02537" "2018-07-20 09:13:27" "SEQ-NG" "DNA" "" "" "0000173325" "00172442" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:34:20" "SEQ" "DNA" "" "" "0000173326" "00172443" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000173327" "00172444" "1" "00124" "00006" "2009-04-08 13:58:13" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000308852" "00307712" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "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" "" "" "0000457731" "00456114" "1" "04764" "04764" "2024-10-23 19:19:25" "" "" "arrayCGH;SEQ-ON" "DNA;RNA" "Blood and fibroblast" "" "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" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000000019" "AFF2" "0000000019" "ALG12" "0000000019" "ALG6" "0000000019" "B3GLCT" "0000000019" "B4GALT1" "0000000019" "BBS12" "0000000019" "CDK5RAP2" "0000000019" "CENPJ" "0000000019" "CRBN" "0000000019" "DHCR7" "0000000019" "EP300" "0000000019" "IL1RAPL1" "0000000019" "KDM5C" "0000000019" "KRAS" "0000000019" "MCPH1" "0000000019" "MED12" "0000000019" "NSD1" "0000000019" "NUFIP1" "0000000019" "POMT1" "0000000019" "RAB3GAP2" "0000000019" "RAF1" "0000000019" "SATB2" "0000000019" "SCN8A" "0000000019" "SIL1" "0000000019" "TSC1" "0000168984" "AFF2" "0000173325" "AFF2" "0000173326" "AFF2" "0000173327" "AFF2" "0000308852" "AFF2" "0000457119" "IDS" "0000457120" "IDS" "0000457731" "AFF2" "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 = 131 "{{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}}" "0000001295" "3" "50" "X" "148049264" "148049264" "subst" "0.0847095" "00002" "AFF2_000089" "g.148049264T>G" "" "{PMID:Almomani 2011:21102627} {dbSNP:16994895}" "" "" "" "Germline" "" "" "" "" "" "g.148967734T>G" "" "VUS" "" "0000001296" "3" "50" "X" "148080095" "148080095" "subst" "0" "00002" "AFF2_000079" "g.148080095A>G" "" "{PMID:Almomani 2011:21102627} {dbSNP:6641482}" "" "" "" "Germline" "" "" "" "" "" "g.148998565A>G" "" "VUS" "" "0000002192" "20" "50" "X" "147919074" "147919078" "del" "0" "00037" "AFF2_000028" "g.147919074_147919078del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148837550_148837554del" "" "VUS" "" "0000002193" "0" "50" "X" "148081131" "148081132" "del" "0" "00037" "AFF2_000012" "g.148081131_148081132del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148999601_148999602del" "" "VUS" "" "0000003287" "20" "50" "X" "147733266" "147733266" "dup" "0" "00037" "AFF2_000062" "g.147733266dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148651745dup" "" "VUS" "" "0000003288" "20" "50" "X" "147919063" "147919067" "del" "0" "00037" "AFF2_000058" "g.147919063_147919067del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148837539_148837543del" "" "VUS" "" "0000003289" "0" "50" "X" "148081109" "148081110" "del" "0" "00037" "AFF2_000060" "g.148081109_148081110del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148999579_148999580del" "" "VUS" "" "0000007809" "20" "50" "X" "147891558" "147891558" "subst" "0" "00037" "AFF2_000055" "g.147891558T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148810034T>C" "" "VUS" "" "0000007810" "20" "50" "X" "147919535" "147919535" "subst" "0" "00037" "AFF2_000030" "g.147919535A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148838011A>G" "" "VUS" "" "0000007811" "20" "50" "X" "147967047" "147967047" "subst" "0" "00037" "AFF2_000034" "g.147967047C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148885517C>A" "" "VUS" "" "0000007812" "20" "50" "X" "147967717" "147967717" "subst" "0" "00037" "AFF2_000035" "g.147967717G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148886187G>A" "" "VUS" "" "0000007813" "20" "50" "X" "148036943" "148036943" "subst" "0" "00037" "AFF2_000038" "g.148036943A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148955413A>G" "" "VUS" "" "0000007814" "20" "50" "X" "148037055" "148037055" "subst" "0" "00037" "AFF2_000041" "g.148037055G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148955525G>C" "" "VUS" "" "0000007815" "20" "50" "X" "148038321" "148038321" "subst" "0" "00037" "AFF2_000044" "g.148038321A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148956791A>G" "" "VUS" "" "0000007816" "20" "50" "X" "148055144" "148055144" "subst" "0.986149" "00037" "AFF2_000088" "g.148055144A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148973614A>G" "" "VUS" "" "0000007817" "20" "50" "X" "148055378" "148055378" "subst" "0" "00037" "AFF2_000004" "g.148055378G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148973848G>A" "" "VUS" "" "0000007818" "20" "50" "X" "148055430" "148055430" "subst" "0" "00037" "AFF2_000005" "g.148055430G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148973900G>A" "" "VUS" "" "0000007819" "20" "50" "X" "148062377" "148062377" "subst" "0" "00037" "AFF2_000006" "g.148062377G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148980847G>A" "" "VUS" "" "0000007820" "20" "50" "X" "148062498" "148062498" "subst" "0" "00037" "AFF2_000007" "g.148062498C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148980968C>G" "" "VUS" "" "0000007821" "20" "50" "X" "148079639" "148079639" "subst" "0" "00037" "AFF2_000008" "g.148079639A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148998109A>C" "" "VUS" "" "0000007822" "20" "50" "X" "148079740" "148079740" "subst" "0" "00037" "AFF2_000009" "g.148079740A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148998210A>C" "" "VUS" "" "0000007823" "20" "50" "X" "148079877" "148079877" "subst" "0" "00037" "AFF2_000010" "g.148079877T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148998347T>C" "" "VUS" "" "0000007824" "20" "50" "X" "148081451" "148081451" "subst" "0" "00037" "AFF2_000013" "g.148081451A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148999921A>G" "" "VUS" "" "0000009966" "20" "50" "X" "147891558" "147891558" "subst" "0" "00037" "AFF2_000055" "g.147891558T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148810034T>C" "" "VUS" "" "0000009967" "20" "50" "X" "147919074" "147919078" "del" "0" "00037" "AFF2_000028" "g.147919074_147919078del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148837550_148837554del" "" "VUS" "" "0000009968" "20" "50" "X" "147919535" "147919535" "subst" "0" "00037" "AFF2_000030" "g.147919535A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148838011A>G" "" "VUS" "" "0000009969" "20" "50" "X" "147967717" "147967717" "subst" "0" "00037" "AFF2_000035" "g.147967717G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148886187G>A" "" "VUS" "" "0000009970" "20" "50" "X" "148036943" "148036943" "subst" "0" "00037" "AFF2_000038" "g.148036943A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148955413A>G" "" "VUS" "" "0000009971" "20" "50" "X" "148037055" "148037055" "subst" "0" "00037" "AFF2_000041" "g.148037055G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148955525G>C" "" "VUS" "" "0000009972" "20" "50" "X" "148038321" "148038321" "subst" "0" "00037" "AFF2_000044" "g.148038321A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148956791A>G" "" "VUS" "" "0000009973" "20" "50" "X" "148055144" "148055144" "subst" "0.986149" "00037" "AFF2_000088" "g.148055144A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148973614A>G" "" "VUS" "" "0000009974" "20" "50" "X" "148055378" "148055378" "subst" "0" "00037" "AFF2_000004" "g.148055378G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148973848G>A" "" "VUS" "" "0000009975" "20" "50" "X" "148062377" "148062377" "subst" "0" "00037" "AFF2_000006" "g.148062377G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148980847G>A" "" "VUS" "" "0000009976" "20" "50" "X" "148062498" "148062498" "subst" "0" "00037" "AFF2_000007" "g.148062498C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148980968C>G" "" "VUS" "" "0000009977" "20" "50" "X" "148079639" "148079639" "subst" "0" "00037" "AFF2_000008" "g.148079639A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148998109A>C" "" "VUS" "" "0000009978" "20" "50" "X" "148079740" "148079740" "subst" "0" "00037" "AFF2_000009" "g.148079740A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148998210A>C" "" "VUS" "" "0000009979" "20" "50" "X" "148079877" "148079877" "subst" "0" "00037" "AFF2_000010" "g.148079877T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148998347T>C" "" "VUS" "" "0000009980" "20" "50" "X" "148081140" "148081140" "subst" "0" "00037" "AFF2_000022" "g.148081140A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148999610A>G" "" "VUS" "" "0000009981" "20" "50" "X" "148081451" "148081451" "subst" "0" "00037" "AFF2_000013" "g.148081451A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148999921A>G" "" "VUS" "" "0000011274" "20" "50" "X" "147919063" "147919067" "del" "0" "00037" "AFF2_000058" "g.147919063_147919067del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148837539_148837543del" "" "VUS" "" "0000011275" "20" "50" "X" "148048207" "148048208" "del" "0" "00037" "AFF2_000061" "g.148048207_148048208del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148966677_148966678del" "" "VUS" "" "0000015781" "20" "50" "X" "147925353" "147925353" "subst" "0" "00037" "AFF2_000033" "g.147925353G>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148843829G>C" "" "VUS" "" "0000015788" "20" "50" "X" "148055430" "148055430" "subst" "0" "00037" "AFF2_000005" "g.148055430G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.148973900G>A" "" "VUS" "" "0000248811" "0" "10" "X" "147800748" "147800748" "subst" "0.211998" "02325" "AFF2_000068" "g.147800748A>G" "" "" "" "AFF2(NM_001170628.1):c.44A>G (p.K15R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148719227T>G" "" "benign" "" "0000254773" "0" "30" "X" "147743741" "147743741" "subst" "0.000251864" "01943" "AFF2_000065" "g.147743741A>G" "" "" "" "AFF2(NM_001169122.1):c.481A>G (p.(Asn161Asp)), AFF2(NM_002025.3):c.493A>G (p.N165D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148662220A>G" "" "likely benign" "" "0000256680" "0" "50" "X" "147733651" "147733651" "subst" "0" "01943" "AFF2_000063" "g.147733651A>G" "" "" "" "AFF2(NM_002025.3):c.179A>G (p.Y60C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148652130A>G" "" "VUS" "" "0000259435" "0" "30" "X" "147800737" "147800737" "subst" "0.00723309" "02325" "AFF2_000067" "g.147800737G>A" "" "" "" "AFF2(NM_001170628.1):c.33G>A (p.P11=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148719216C>A" "" "likely benign" "" "0000259635" "0" "50" "X" "148037361" "148037361" "subst" "0" "02325" "AFF2_000073" "g.148037361G>A" "" "" "" "AFF2(NM_002025.4):c.1786G>A (p.A596T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148955831G>A" "" "VUS" "" "0000260649" "0" "10" "X" "148039954" "148039954" "subst" "0.00114481" "02326" "AFF2_000003" "g.148039954C>G" "" "" "" "AFF2(NM_001169122.1):c.2557C>G (p.(Pro853Ala)), AFF2(NM_002025.3):c.2656C>G (p.P886A), AFF2(NM_002025.4):c.2656C>G (p.P886A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148958424C>G" "" "benign" "" "0000260650" "0" "10" "X" "148068966" "148068966" "subst" "0.000347425" "02326" "AFF2_000082" "g.148068966C>T" "" "" "" "AFF2(NM_002025.3):c.3693C>T (p.G1231=), AFF2(NM_002025.4):c.3693C>T (p.G1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148987436C>T" "" "benign" "" "0000262047" "0" "10" "X" "147919205" "147919205" "subst" "0.000882876" "01943" "AFF2_000069" "g.147919205C>A" "" "" "" "AFF2(NM_001169123.1):c.1109C>A (p.(Ser370Tyr)), AFF2(NM_002025.3):c.1121C>A (p.S374Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148837681C>A" "" "benign" "" "0000262048" "0" "10" "X" "148037363" "148037363" "subst" "0.000931167" "01943" "AFF2_000074" "g.148037363C>A" "" "" "" "AFF2(NM_002025.3):c.1788C>A (p.A596=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148955833C>A" "" "benign" "" "0000262049" "0" "10" "X" "148044334" "148044334" "subst" "0.00164755" "01943" "AFF2_000080" "g.148044334G>A" "" "" "" "AFF2(NM_001169122.1):c.2681G>A (p.(Arg894His)), AFF2(NM_002025.3):c.2780G>A (p.R927H), AFF2(NM_002025.4):c.2780G>A (p.R927H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148962804G>A" "" "benign" "" "0000262050" "0" "30" "X" "147743814" "147743814" "subst" "0" "01943" "AFF2_000066" "g.147743814C>G" "" "" "" "AFF2(NM_002025.3):c.566C>G (p.S189C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148662293C>G" "" "likely benign" "" "0000335817" "0" "50" "X" "147743505" "147743505" "subst" "0" "01804" "AFF2_000064" "g.147743505C>T" "" "" "" "AFF2(NM_001169122.1):c.245C>T (p.(Thr82Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148661984C>T" "" "VUS" "" "0000335818" "0" "30" "X" "147743741" "147743741" "subst" "0.000251864" "01804" "AFF2_000065" "g.147743741A>G" "" "" "" "AFF2(NM_001169122.1):c.481A>G (p.(Asn161Asp)), AFF2(NM_002025.3):c.493A>G (p.N165D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148662220A>G" "" "likely benign" "" "0000335819" "0" "30" "X" "147919205" "147919205" "subst" "0.000882876" "01804" "AFF2_000069" "g.147919205C>A" "" "" "" "AFF2(NM_001169123.1):c.1109C>A (p.(Ser370Tyr)), AFF2(NM_002025.3):c.1121C>A (p.S374Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148837681C>A" "" "likely benign" "" "0000335821" "0" "50" "X" "148035156" "148035156" "subst" "0" "01804" "AFF2_000071" "g.148035156G>A" "" "" "" "AFF2(NM_001169122.1):c.1345G>A (p.(Gly449Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148953626G>A" "" "VUS" "" "0000335822" "0" "50" "X" "148035179" "148035179" "subst" "0" "01804" "AFF2_000072" "g.148035179A>T" "" "" "" "AFF2(NM_002025.3):c.1467A>T (p.(Glu489Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148953649A>T" "" "VUS" "" "0000335825" "0" "50" "X" "148037779" "148037779" "subst" "1.12013E-5" "01804" "AFF2_000077" "g.148037779C>T" "" "" "" "AFF2(NM_002025.3):c.2204C>T (p.(Pro735Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148956249C>T" "" "VUS" "" "0000335826" "0" "30" "X" "148038133" "148038133" "subst" "1.73818E-5" "01804" "AFF2_000078" "g.148038133G>A" "" "" "" "AFF2(NM_001169122.1):c.2459G>A (p.(Arg820His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148956603G>A" "" "likely benign" "" "0000335827" "0" "50" "X" "148044334" "148044334" "subst" "0.00164755" "01804" "AFF2_000080" "g.148044334G>A" "" "" "" "AFF2(NM_001169122.1):c.2681G>A (p.(Arg894His)), AFF2(NM_002025.3):c.2780G>A (p.R927H), AFF2(NM_002025.4):c.2780G>A (p.R927H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148962804G>A" "" "VUS" "" "0000335829" "0" "30" "X" "148048313" "148048313" "subst" "0" "01804" "AFF2_000081" "g.148048313T>A" "" "" "" "AFF2(NM_002025.4):c.2914-7T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148966783T>A" "" "likely benign" "" "0000343487" "0" "30" "X" "148044334" "148044334" "subst" "0.00164755" "02327" "AFF2_000080" "g.148044334G>A" "" "" "" "AFF2(NM_001169122.1):c.2681G>A (p.(Arg894His)), AFF2(NM_002025.3):c.2780G>A (p.R927H), AFF2(NM_002025.4):c.2780G>A (p.R927H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148962804G>A" "" "likely benign" "" "0000346790" "0" "50" "X" "148037683" "148037683" "subst" "0" "02327" "AFF2_000084" "g.148037683T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148956153T>C" "" "VUS" "" "0000347899" "0" "50" "X" "148037926" "148037926" "subst" "0.00012308" "02327" "AFF2_000085" "g.148037926T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148956396T>G" "" "VUS" "" "0000348491" "0" "30" "X" "148037133" "148037133" "subst" "0" "02327" "AFF2_000083" "g.148037133C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.148955603C>T" "" "likely benign" "" "0000379122" "0" "90" "X" "148038084" "148038084" "subst" "3.36296E-5" "02537" "AFF2_000087" "g.148038084C>T" "" "{PMID:Du 2018:30555518}" "" "" "" "Germline" "" "" "0" "" "" "g.148956554C>T" "" "pathogenic" "" "0000393182" "1" "30" "X" "148035200" "148035200" "subst" "0.0638285" "00124" "AFF2_000090" "g.148035200G>A" "7/208 cases" "{PMID:Tarpey 2009:19377476}" "" "S496S" "recurrent, found 7 times" "Germline" "" "" "0" "" "" "g.148953670G>A" "" "likely benign" "" "0000393183" "1" "50" "X" "148037409" "148037409" "subst" "0.000212903" "00124" "AFF2_000091" "g.148037409C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.148955879C>G" "" "VUS" "" "0000393184" "1" "50" "X" "148039954" "148039954" "subst" "0.00114481" "00124" "AFF2_000003" "g.148039954C>G" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.148958424C>G" "" "VUS" "" "0000574015" "0" "50" "X" "147733650" "147733650" "subst" "0" "01943" "AFF2_000092" "g.147733650T>C" "" "" "" "AFF2(NM_002025.3):c.178T>C (p.Y60H), AFF2(NM_002025.4):c.178T>C (p.Y60H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148652129T>C" "" "VUS" "" "0000574017" "0" "30" "X" "147743744" "147743744" "subst" "0.000856332" "01943" "AFF2_000093" "g.147743744C>T" "" "" "" "AFF2(NM_002025.3):c.496C>T (p.P166S), AFF2(NM_002025.4):c.496C>T (p.(Pro166Ser), p.P166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148662223C>T" "" "likely benign" "" "0000574018" "0" "30" "X" "147743744" "147743744" "subst" "0.000856332" "02325" "AFF2_000093" "g.147743744C>T" "" "" "" "AFF2(NM_002025.3):c.496C>T (p.P166S), AFF2(NM_002025.4):c.496C>T (p.(Pro166Ser), p.P166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148662223C>T" "" "likely benign" "" "0000574020" "0" "30" "X" "147919246" "147919246" "subst" "0" "01804" "AFF2_000095" "g.147919246A>G" "" "" "" "AFF2(NM_001169123.1):c.1150A>G (p.(Ile384Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148837722A>G" "" "likely benign" "" "0000574021" "0" "70" "X" "148035156" "148035156" "subst" "0" "02327" "AFF2_000071" "g.148035156G>A" "" "" "" "AFF2(NM_001169122.1):c.1345G>A (p.(Gly449Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148953626G>A" "" "likely pathogenic" "" "0000574022" "0" "30" "X" "148037640" "148037640" "subst" "0.00242561" "01943" "AFF2_000096" "g.148037640C>T" "" "" "" "AFF2(NM_001169122.1):c.1966C>T (p.(Pro656Ser)), AFF2(NM_002025.3):c.2065C>T (p.P689S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148956110C>T" "" "likely benign" "" "0000574023" "0" "30" "X" "148037640" "148037640" "subst" "0.00242561" "01804" "AFF2_000096" "g.148037640C>T" "" "" "" "AFF2(NM_001169122.1):c.1966C>T (p.(Pro656Ser)), AFF2(NM_002025.3):c.2065C>T (p.P689S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148956110C>T" "" "likely benign" "" "0000574024" "0" "30" "X" "148037822" "148037822" "subst" "5.59798E-6" "01943" "AFF2_000097" "g.148037822C>G" "" "" "" "AFF2(NM_002025.3):c.2247C>G (p.I749M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148956292C>G" "" "likely benign" "" "0000574025" "0" "30" "X" "148038042" "148038042" "subst" "0" "01943" "AFF2_000098" "g.148038042C>G" "" "" "" "AFF2(NM_002025.3):c.2467C>G (p.P823A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148956512C>G" "" "likely benign" "" "0000574026" "0" "30" "X" "148039870" "148039870" "subst" "2.25121E-5" "01943" "AFF2_000099" "g.148039870A>G" "" "" "" "AFF2(NM_002025.3):c.2572A>G (p.I858V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148958340A>G" "" "likely benign" "" "0000574027" "0" "30" "X" "148039954" "148039954" "subst" "0.00114481" "01804" "AFF2_000003" "g.148039954C>G" "" "" "" "AFF2(NM_001169122.1):c.2557C>G (p.(Pro853Ala)), AFF2(NM_002025.3):c.2656C>G (p.P886A), AFF2(NM_002025.4):c.2656C>G (p.P886A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148958424C>G" "" "likely benign" "" "0000574028" "0" "30" "X" "148039954" "148039954" "subst" "0.00114481" "02325" "AFF2_000003" "g.148039954C>G" "" "" "" "AFF2(NM_001169122.1):c.2557C>G (p.(Pro853Ala)), AFF2(NM_002025.3):c.2656C>G (p.P886A), AFF2(NM_002025.4):c.2656C>G (p.P886A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148958424C>G" "" "likely benign" "" "0000574029" "0" "30" "X" "148044330" "148044330" "subst" "0" "01943" "AFF2_000100" "g.148044330C>T" "" "" "" "AFF2(NM_002025.3):c.2776C>T (p.R926C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148962800C>T" "" "likely benign" "" "0000574030" "0" "50" "X" "148044460" "148044460" "subst" "1.13134E-5" "02327" "AFF2_000101" "g.148044460C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148962930C>T" "" "VUS" "" "0000574031" "0" "30" "X" "148044462" "148044462" "subst" "0" "01943" "AFF2_000102" "g.148044462G>C" "" "" "" "AFF2(NM_002025.3):c.2908G>C (p.V970L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148962932G>C" "" "likely benign" "" "0000574032" "0" "70" "X" "148049217" "148049217" "subst" "0" "02327" "AFF2_000103" "g.148049217G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148967687G>A" "" "likely pathogenic" "" "0000574034" "0" "10" "X" "148055144" "148055144" "subst" "0.986149" "02325" "AFF2_000088" "g.148055144A>G" "" "" "" "AFF2(NM_002025.4):c.3404+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148973614A>G" "" "benign" "" "0000619097" "0" "90" "X" "147743861" "147743861" "subst" "0" "01943" "AFF2_000105" "g.147743861C>T" "" "" "" "AFF2(NM_002025.3):c.613C>T (p.Q205*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148662340C>T" "" "pathogenic" "" "0000619098" "0" "30" "X" "147743991" "147743991" "subst" "5.03575E-5" "01943" "AFF2_000106" "g.147743991C>T" "" "" "" "AFF2(NM_002025.3):c.743C>T (p.A248V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148662470C>T" "" "likely benign" "" "0000619099" "0" "30" "X" "147967478" "147967478" "subst" "0" "01943" "AFF2_000107" "g.147967478C>T" "" "" "" "AFF2(NM_002025.3):c.1322C>T (p.T441I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148885948C>T" "" "likely benign" "" "0000619100" "0" "30" "X" "148044334" "148044334" "subst" "0.00164755" "02326" "AFF2_000080" "g.148044334G>A" "" "" "" "AFF2(NM_001169122.1):c.2681G>A (p.(Arg894His)), AFF2(NM_002025.3):c.2780G>A (p.R927H), AFF2(NM_002025.4):c.2780G>A (p.R927H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148962804G>A" "" "likely benign" "" "0000619101" "0" "30" "X" "148059958" "148059958" "subst" "0.000146113" "01943" "AFF2_000110" "g.148059958C>T" "" "" "" "AFF2(NM_002025.3):c.3543C>T (p.Y1181=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148978428C>T" "" "likely benign" "" "0000624459" "0" "30" "X" "148037162" "148037162" "subst" "0" "01943" "AFF2_000108" "g.148037162A>G" "" "" "" "AFF2(NM_002025.3):c.1587A>G (p.Q529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148955632A>G" "" "likely benign" "" "0000624460" "0" "30" "X" "148048494" "148048494" "subst" "0.000951038" "01943" "AFF2_000109" "g.148048494A>C" "" "" "" "AFF2(NM_002025.3):c.3088A>C (p.I1030L, p.(Ile1030Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148966964A>C" "" "likely benign" "" "0000624461" "0" "30" "X" "148069011" "148069011" "subst" "0" "01943" "AFF2_000111" "g.148069011C>T" "" "" "" "AFF2(NM_002025.3):c.3738C>T (p.H1246=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148987481C>T" "" "likely benign" "" "0000659121" "0" "50" "X" "148038056" "148038056" "subst" "5.59948E-6" "02327" "AFF2_000112" "g.148038056C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.148956526C>A" "" "VUS" "" "0000682159" "0" "50" "X" "147733615" "147733615" "subst" "0" "01943" "AFF2_000114" "g.147733615T>G" "" "" "" "AFF2(NM_002025.3):c.143T>G (p.F48C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682160" "0" "50" "X" "147733650" "147733650" "subst" "0" "02325" "AFF2_000092" "g.147733650T>C" "" "" "" "AFF2(NM_002025.3):c.178T>C (p.Y60H), AFF2(NM_002025.4):c.178T>C (p.Y60H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682161" "0" "30" "X" "147919181" "147919181" "subst" "0.000249543" "01943" "AFF2_000115" "g.147919181A>G" "" "" "" "AFF2(NM_002025.3):c.1097A>G (p.H366R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682162" "0" "30" "X" "148037999" "148037999" "subst" "9.51257E-5" "01943" "AFF2_000116" "g.148037999C>T" "" "" "" "AFF2(NM_002025.3):c.2424C>T (p.D808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682163" "0" "30" "X" "148038047" "148038047" "subst" "5.60299E-6" "01943" "AFF2_000117" "g.148038047C>T" "" "" "" "AFF2(NM_002025.3):c.2472C>T (p.A824=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682164" "0" "50" "X" "148038102" "148038102" "subst" "0" "01804" "AFF2_000118" "g.148038102G>A" "" "" "" "AFF2(NM_001169122.1):c.2428G>A (p.(Ala810Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000682165" "0" "50" "X" "148044471" "148044471" "subst" "1.71625E-5" "01804" "AFF2_000119" "g.148044471A>C" "" "" "" "AFF2(NM_001169123.1):c.2883+4A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683286" "0" "70" "X" "148049184" "148049184" "subst" "0" "00006" "AFF2_000120" "g.148049184C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.148967654C>T" "" "likely pathogenic" "" "0000693404" "0" "30" "X" "147743749" "147743749" "subst" "0" "01943" "AFF2_000121" "g.147743749C>T" "" "" "" "AFF2(NM_002025.3):c.501C>T (p.S167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000693405" "0" "30" "X" "148037433" "148037433" "subst" "0.000145614" "01943" "AFF2_000122" "g.148037433A>G" "" "" "" "AFF2(NM_002025.3):c.1858A>G (p.T620A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728504" "0" "30" "X" "147582638" "147582638" "subst" "0" "01943" "AFF2_000123" "g.147582638C>T" "" "" "" "AFF2(NM_002025.3):c.21C>T (p.F7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728505" "0" "50" "X" "148044421" "148044421" "subst" "0" "01943" "AFF2_000124" "g.148044421G>T" "" "" "" "AFF2(NM_002025.3):c.2867G>T (p.R956I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000809985" "0" "30" "X" "147744112" "147744112" "subst" "4.4763E-5" "01943" "AFF2_000125" "g.147744112C>T" "" "" "" "AFF2(NM_002025.3):c.864C>T (p.Y288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809986" "0" "30" "X" "148037615" "148037615" "subst" "0" "01943" "AFF2_000126" "g.148037615T>C" "" "" "" "AFF2(NM_002025.3):c.2040T>C (p.P680=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809987" "0" "30" "X" "148048464" "148048464" "subst" "5.65928E-6" "01943" "AFF2_000127" "g.148048464A>G" "" "" "" "AFF2(NM_002025.3):c.3058A>G (p.T1020A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856392" "0" "30" "X" "147743467" "147743467" "subst" "1.13498E-5" "01943" "AFF2_000128" "g.147743467C>T" "" "" "" "AFF2(NM_002025.3):c.219C>T (p.N73=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856393" "0" "30" "X" "148037409" "148037409" "subst" "0.000212903" "01943" "AFF2_000091" "g.148037409C>G" "" "" "" "AFF2(NM_002025.3):c.1834C>G (p.H612D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856394" "0" "50" "X" "148039906" "148039906" "subst" "4.48727E-5" "02325" "AFF2_000129" "g.148039906C>T" "" "" "" "AFF2(NM_002025.4):c.2608C>T (p.R870C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856395" "0" "30" "X" "148068969" "148068969" "subst" "0.000246521" "01943" "AFF2_000132" "g.148068969A>T" "" "" "" "AFF2(NM_002025.3):c.3696A>T (p.P1232=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867120" "0" "30" "X" "147744282" "147744282" "subst" "2.35448E-5" "01943" "AFF2_000094" "g.147744282C>A" "" "" "" "AFF2(NM_002025.3):c.1034C>A (p.T345K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867121" "0" "30" "X" "148039954" "148039954" "subst" "0.00114481" "01943" "AFF2_000003" "g.148039954C>G" "" "" "" "AFF2(NM_001169122.1):c.2557C>G (p.(Pro853Ala)), AFF2(NM_002025.3):c.2656C>G (p.P886A), AFF2(NM_002025.4):c.2656C>G (p.P886A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867123" "0" "30" "X" "148062286" "148062286" "subst" "3.93601E-5" "01943" "AFF2_000131" "g.148062286G>A" "" "" "" "AFF2(NM_002025.3):c.3589G>A (p.A1197T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867124" "0" "30" "X" "148068966" "148068966" "subst" "0.000347425" "01943" "AFF2_000082" "g.148068966C>T" "" "" "" "AFF2(NM_002025.3):c.3693C>T (p.G1231=), AFF2(NM_002025.4):c.3693C>T (p.G1231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895963" "0" "50" "X" "147743437" "147743437" "subst" "0" "02329" "AFF2_000133" "g.147743437A>C" "" "" "" "AFF2(NM_002025.4):c.189A>C (p.K63N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895964" "0" "50" "X" "148037542" "148037542" "subst" "0" "02325" "AFF2_000134" "g.148037542A>G" "" "" "" "AFF2(NM_002025.4):c.1967A>G (p.K656R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895965" "0" "50" "X" "148048317" "148048317" "subst" "0" "02329" "AFF2_000135" "g.148048317C>G" "" "" "" "AFF2(NM_002025.4):c.2914-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984497" "0" "10" "X" "147743744" "147743744" "subst" "0.000856332" "01804" "AFF2_000093" "g.147743744C>T" "" "" "" "AFF2(NM_002025.3):c.496C>T (p.P166S), AFF2(NM_002025.4):c.496C>T (p.(Pro166Ser), p.P166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006484" "0" "30" "X" "148048494" "148048494" "subst" "0.000951038" "01804" "AFF2_000109" "g.148048494A>C" "" "" "" "AFF2(NM_002025.3):c.3088A>C (p.I1030L, p.(Ile1030Leu))" "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)" "" "0001012278" "21" "70" "X" "148016106" "148041570" "dup" "0" "04764" "AFF2_000137" "g.(?_148016106)_(148041570_?)dup" "" "" "" "Duplication [GRCh38 (chrX:148934576–148960040)]" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_148934576)_(148960040_?)dup" "" "pathogenic" "ACMG" "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)" "" "0001044150" "0" "30" "X" "147662794" "147662797" "del" "0" "01804" "AFF2_000138" "g.147662794_147662797del" "" "" "" "AFF2(NM_002025.4):c.48-70726_48-70723del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes AFF2 ## Count = 131 "{{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}}" "0000001295" "00025302" "00" "3267" "42" "3267" "42" "c.3267+42T>G" "r.(=)" "p.(=)" "" "0000001296" "00025302" "00" "11169" "0" "11169" "0" "c.*7233A>G" "r.(=)" "p.(=)" "" "0000002192" "00025302" "00" "1087" "-97" "1087" "-93" "c.1087-97_1087-93del" "r.(=)" "p.(=)" "" "0000002193" "00025302" "00" "12205" "0" "12206" "0" "c.*8269_*8270del" "r.(=)" "p.(=)" "" "0000003287" "00025302" "00" "48" "-254" "48" "-254" "c.48-254dup" "r.(=)" "p.(=)" "" "0000003288" "00025302" "00" "1087" "-108" "1087" "-104" "c.1087-108_1087-104del" "r.(=)" "p.(=)" "" "0000003289" "00025302" "00" "12183" "0" "12184" "0" "c.*8247_*8248del" "r.(=)" "p.(=)" "" "0000007809" "00025302" "00" "1086" "114" "1086" "114" "c.1086+114T>C" "r.(=)" "p.(=)" "" "0000007810" "00025302" "00" "1173" "278" "1173" "278" "c.1173+278A>G" "r.(=)" "p.(=)" "" "0000007811" "00025302" "00" "1263" "-372" "1263" "-372" "c.1263-372C>A" "r.(=)" "p.(=)" "" "0000007812" "00025302" "00" "1359" "202" "1359" "202" "c.1359+202G>A" "r.(=)" "p.(=)" "" "0000007813" "00025302" "00" "1558" "-190" "1558" "-190" "c.1558-190A>G" "r.(=)" "p.(=)" "" "0000007814" "00025302" "00" "1558" "-78" "1558" "-78" "c.1558-78G>C" "r.(=)" "p.(=)" "" "0000007815" "00025302" "00" "2568" "178" "2568" "178" "c.2568+178A>G" "r.(=)" "p.(=)" "" "0000007816" "00025302" "00" "3404" "7" "3404" "7" "c.3404+7A>G" "r.(=)" "p.(=)" "" "0000007817" "00025302" "00" "3404" "241" "3404" "241" "c.3404+241G>A" "r.(=)" "p.(=)" "" "0000007818" "00025302" "00" "3404" "293" "3404" "293" "c.3404+293G>A" "r.(=)" "p.(=)" "" "0000007819" "00025302" "00" "3623" "57" "3623" "57" "c.3623+57G>A" "r.(=)" "p.(=)" "" "0000007820" "00025302" "00" "3623" "178" "3623" "178" "c.3623+178C>G" "r.(=)" "p.(=)" "" "0000007821" "00025302" "00" "10713" "0" "10713" "0" "c.*6777A>C" "r.(=)" "p.(=)" "" "0000007822" "00025302" "00" "10814" "0" "10814" "0" "c.*6878A>C" "r.(=)" "p.(=)" "" "0000007823" "00025302" "00" "10951" "0" "10951" "0" "c.*7015T>C" "r.(=)" "p.(=)" "" "0000007824" "00025302" "00" "12525" "0" "12525" "0" "c.*8589A>G" "r.(=)" "p.(=)" "" "0000009966" "00025302" "00" "1086" "114" "1086" "114" "c.1086+114T>C" "r.(=)" "p.(=)" "" "0000009967" "00025302" "00" "1087" "-97" "1087" "-93" "c.1087-97_1087-93del" "r.(=)" "p.(=)" "" "0000009968" "00025302" "00" "1173" "278" "1173" "278" "c.1173+278A>G" "r.(=)" "p.(=)" "" "0000009969" "00025302" "00" "1359" "202" "1359" "202" "c.1359+202G>A" "r.(=)" "p.(=)" "" "0000009970" "00025302" "00" "1558" "-190" "1558" "-190" "c.1558-190A>G" "r.(=)" "p.(=)" "" "0000009971" "00025302" "00" "1558" "-78" "1558" "-78" "c.1558-78G>C" "r.(=)" "p.(=)" "" "0000009972" "00025302" "00" "2568" "178" "2568" "178" "c.2568+178A>G" "r.(=)" "p.(=)" "" "0000009973" "00025302" "00" "3404" "7" "3404" "7" "c.3404+7A>G" "r.(=)" "p.(=)" "" "0000009974" "00025302" "00" "3404" "241" "3404" "241" "c.3404+241G>A" "r.(=)" "p.(=)" "" "0000009975" "00025302" "00" "3623" "57" "3623" "57" "c.3623+57G>A" "r.(=)" "p.(=)" "" "0000009976" "00025302" "00" "3623" "178" "3623" "178" "c.3623+178C>G" "r.(=)" "p.(=)" "" "0000009977" "00025302" "00" "10713" "0" "10713" "0" "c.*6777A>C" "r.(=)" "p.(=)" "" "0000009978" "00025302" "00" "10814" "0" "10814" "0" "c.*6878A>C" "r.(=)" "p.(=)" "" "0000009979" "00025302" "00" "10951" "0" "10951" "0" "c.*7015T>C" "r.(=)" "p.(=)" "" "0000009980" "00025302" "00" "12214" "0" "12214" "0" "c.*8278A>G" "r.(=)" "p.(=)" "" "0000009981" "00025302" "00" "12525" "0" "12525" "0" "c.*8589A>G" "r.(=)" "p.(=)" "" "0000011274" "00025302" "00" "1087" "-108" "1087" "-104" "c.1087-108_1087-104del" "r.(=)" "p.(=)" "" "0000011275" "00025302" "00" "2914" "-113" "2914" "-112" "c.2914-113_2914-112del" "r.(=)" "p.(=)" "" "0000015781" "00025302" "00" "1262" "396" "1262" "396" "c.1262+396G>C" "r.(=)" "p.(=)" "" "0000015788" "00025302" "00" "3404" "293" "3404" "293" "c.3404+293G>A" "r.(=)" "p.(=)" "" "0000248811" "00025302" "10" "1041" "56459" "1041" "56459" "c.1041+56459A>G" "r.(=)" "p.(=)" "" "0000254773" "00025302" "30" "493" "0" "493" "0" "c.493A>G" "r.(?)" "p.(Asn165Asp)" "" "0000256680" "00025302" "50" "179" "0" "179" "0" "c.179A>G" "r.(?)" "p.(Tyr60Cys)" "" "0000259435" "00025302" "30" "1041" "56448" "1041" "56448" "c.1041+56448G>A" "r.(=)" "p.(=)" "" "0000259635" "00025302" "50" "1786" "0" "1786" "0" "c.1786G>A" "r.(?)" "p.(Ala596Thr)" "" "0000260649" "00025302" "10" "2656" "0" "2656" "0" "c.2656C>G" "r.(?)" "p.(Pro886Ala)" "" "0000260650" "00025302" "10" "3693" "0" "3693" "0" "c.3693C>T" "r.(?)" "p.(Gly1231=)" "" "0000262047" "00025302" "10" "1121" "0" "1121" "0" "c.1121C>A" "r.(?)" "p.(Ser374Tyr)" "" "0000262048" "00025302" "10" "1788" "0" "1788" "0" "c.1788C>A" "r.(?)" "p.(Ala596=)" "" "0000262049" "00025302" "10" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Arg927His)" "" "0000262050" "00025302" "30" "566" "0" "566" "0" "c.566C>G" "r.(?)" "p.(Ser189Cys)" "" "0000335817" "00025302" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Thr86Ile)" "" "0000335818" "00025302" "30" "493" "0" "493" "0" "c.493A>G" "r.(?)" "p.(Asn165Asp)" "" "0000335819" "00025302" "30" "1121" "0" "1121" "0" "c.1121C>A" "r.(?)" "p.(Ser374Tyr)" "" "0000335821" "00025302" "50" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Gly482Arg)" "" "0000335822" "00025302" "50" "1467" "0" "1467" "0" "c.1467A>T" "r.(?)" "p.(Glu489Asp)" "" "0000335825" "00025302" "50" "2204" "0" "2204" "0" "c.2204C>T" "r.(?)" "p.(Pro735Leu)" "" "0000335826" "00025302" "30" "2558" "0" "2558" "0" "c.2558G>A" "r.(?)" "p.(Arg853His)" "" "0000335827" "00025302" "50" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Arg927His)" "" "0000335829" "00025302" "30" "2914" "-7" "2914" "-7" "c.2914-7T>A" "r.(=)" "p.(=)" "" "0000343487" "00025302" "30" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Arg927His)" "" "0000346790" "00025302" "50" "2108" "0" "2108" "0" "c.2108T>C" "r.(?)" "p.(Ile703Thr)" "" "0000347899" "00025302" "50" "2351" "0" "2351" "0" "c.2351T>G" "r.(?)" "p.(Met784Arg)" "" "0000348491" "00025302" "30" "1558" "0" "1558" "0" "c.1558C>T" "r.(?)" "p.(Pro520Ser)" "" "0000379122" "00025302" "00" "2509" "0" "2509" "0" "c.2509C>T" "r.(2509c>u)" "p.(Arg837Cys)" "" "0000393182" "00025302" "30" "1488" "0" "1488" "0" "c.1488G>A" "r.(=)" "p.(=)" "" "0000393183" "00025302" "50" "1834" "0" "1834" "0" "c.1834C>G" "r.(?)" "p.(His612Asp)" "" "0000393184" "00025302" "50" "2656" "0" "2656" "0" "c.2656C>G" "r.(?)" "p.(Pro886Ala)" "" "0000574015" "00025302" "50" "178" "0" "178" "0" "c.178T>C" "r.(?)" "p.(Tyr60His)" "" "0000574017" "00025302" "30" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Pro166Ser)" "" "0000574018" "00025302" "30" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Pro166Ser)" "" "0000574020" "00025302" "30" "1162" "0" "1162" "0" "c.1162A>G" "r.(?)" "p.(Ile388Val)" "" "0000574021" "00025302" "70" "1444" "0" "1444" "0" "c.1444G>A" "r.(?)" "p.(Gly482Arg)" "" "0000574022" "00025302" "30" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Pro689Ser)" "" "0000574023" "00025302" "30" "2065" "0" "2065" "0" "c.2065C>T" "r.(?)" "p.(Pro689Ser)" "" "0000574024" "00025302" "30" "2247" "0" "2247" "0" "c.2247C>G" "r.(?)" "p.(Ile749Met)" "" "0000574025" "00025302" "30" "2467" "0" "2467" "0" "c.2467C>G" "r.(?)" "p.(Pro823Ala)" "" "0000574026" "00025302" "30" "2572" "0" "2572" "0" "c.2572A>G" "r.(?)" "p.(Ile858Val)" "" "0000574027" "00025302" "30" "2656" "0" "2656" "0" "c.2656C>G" "r.(?)" "p.(Pro886Ala)" "" "0000574028" "00025302" "30" "2656" "0" "2656" "0" "c.2656C>G" "r.(?)" "p.(Pro886Ala)" "" "0000574029" "00025302" "30" "2776" "0" "2776" "0" "c.2776C>T" "r.(?)" "p.(Arg926Cys)" "" "0000574030" "00025302" "50" "2906" "0" "2906" "0" "c.2906C>T" "r.(?)" "p.(Ser969Leu)" "" "0000574031" "00025302" "30" "2908" "0" "2908" "0" "c.2908G>C" "r.(?)" "p.(Val970Leu)" "" "0000574032" "00025302" "70" "3262" "0" "3262" "0" "c.3262G>A" "r.(?)" "p.(Ala1088Thr)" "" "0000574034" "00025302" "10" "3404" "7" "3404" "7" "c.3404+7A>G" "r.(=)" "p.(=)" "" "0000619097" "00025302" "90" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Gln205Ter)" "" "0000619098" "00025302" "30" "743" "0" "743" "0" "c.743C>T" "r.(?)" "p.(Ala248Val)" "" "0000619099" "00025302" "30" "1322" "0" "1322" "0" "c.1322C>T" "r.(?)" "p.(Thr441Ile)" "" "0000619100" "00025302" "30" "2780" "0" "2780" "0" "c.2780G>A" "r.(?)" "p.(Arg927His)" "" "0000619101" "00025302" "30" "3543" "0" "3543" "0" "c.3543C>T" "r.(?)" "p.(Tyr1181=)" "" "0000624459" "00025302" "30" "1587" "0" "1587" "0" "c.1587A>G" "r.(?)" "p.(Gln529=)" "" "0000624460" "00025302" "30" "3088" "0" "3088" "0" "c.3088A>C" "r.(?)" "p.(Ile1030Leu)" "" "0000624461" "00025302" "30" "3738" "0" "3738" "0" "c.3738C>T" "r.(?)" "p.(His1246=)" "" "0000659121" "00025302" "50" "2481" "0" "2481" "0" "c.2481C>A" "r.(?)" "p.(Asp827Glu)" "" "0000682159" "00025302" "50" "143" "0" "143" "0" "c.143T>G" "r.(?)" "p.(Phe48Cys)" "" "0000682160" "00025302" "50" "178" "0" "178" "0" "c.178T>C" "r.(?)" "p.(Tyr60His)" "" "0000682161" "00025302" "30" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(His366Arg)" "" "0000682162" "00025302" "30" "2424" "0" "2424" "0" "c.2424C>T" "r.(?)" "p.(Asp808=)" "" "0000682163" "00025302" "30" "2472" "0" "2472" "0" "c.2472C>T" "r.(?)" "p.(Ala824=)" "" "0000682164" "00025302" "50" "2527" "0" "2527" "0" "c.2527G>A" "r.(?)" "p.(Ala843Thr)" "" "0000682165" "00025302" "50" "2913" "4" "2913" "4" "c.2913+4A>C" "r.spl?" "p.?" "" "0000683286" "00025302" "70" "3229" "0" "3229" "0" "c.3229C>T" "r.(?)" "p.(Gln1077*)" "" "0000693404" "00025302" "30" "501" "0" "501" "0" "c.501C>T" "r.(?)" "p.(Ser167=)" "" "0000693405" "00025302" "30" "1858" "0" "1858" "0" "c.1858A>G" "r.(?)" "p.(Thr620Ala)" "" "0000728504" "00025302" "30" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(Phe7=)" "" "0000728505" "00025302" "50" "2867" "0" "2867" "0" "c.2867G>T" "r.(?)" "p.(Arg956Ile)" "" "0000809985" "00025302" "30" "864" "0" "864" "0" "c.864C>T" "r.(?)" "p.(Tyr288=)" "" "0000809986" "00025302" "30" "2040" "0" "2040" "0" "c.2040T>C" "r.(?)" "p.(Pro680=)" "" "0000809987" "00025302" "30" "3058" "0" "3058" "0" "c.3058A>G" "r.(?)" "p.(Thr1020Ala)" "" "0000856392" "00025302" "30" "219" "0" "219" "0" "c.219C>T" "r.(?)" "p.(Asn73=)" "" "0000856393" "00025302" "30" "1834" "0" "1834" "0" "c.1834C>G" "r.(?)" "p.(His612Asp)" "" "0000856394" "00025302" "50" "2608" "0" "2608" "0" "c.2608C>T" "r.(?)" "p.(Arg870Cys)" "" "0000856395" "00025302" "30" "3696" "0" "3696" "0" "c.3696A>T" "r.(?)" "p.(Pro1232=)" "" "0000867120" "00025302" "30" "1034" "0" "1034" "0" "c.1034C>A" "r.(?)" "p.(Thr345Lys)" "" "0000867121" "00025302" "30" "2656" "0" "2656" "0" "c.2656C>G" "r.(?)" "p.(Pro886Ala)" "" "0000867123" "00025302" "30" "3589" "0" "3589" "0" "c.3589G>A" "r.(?)" "p.(Ala1197Thr)" "" "0000867124" "00025302" "30" "3693" "0" "3693" "0" "c.3693C>T" "r.(?)" "p.(Gly1231=)" "" "0000895963" "00025302" "50" "189" "0" "189" "0" "c.189A>C" "r.(?)" "p.(Lys63Asn)" "" "0000895964" "00025302" "50" "1967" "0" "1967" "0" "c.1967A>G" "r.(?)" "p.(Lys656Arg)" "" "0000895965" "00025302" "50" "2914" "-3" "2914" "-3" "c.2914-3C>G" "r.spl?" "p.?" "" "0000984497" "00025302" "10" "496" "0" "496" "0" "c.496C>T" "r.(?)" "p.(Pro166Ser)" "" "0001006484" "00025302" "30" "3088" "0" "3088" "0" "c.3088A>C" "r.(?)" "p.(Ile1030Leu)" "" "0001011566" "00025302" "90" "-7592213" "0" "1335208" "0" "c.-7592213_*1331272del" "r.0" "p.0" "" "0001011567" "00025302" "90" "-2855868" "0" "554943" "0" "c.-2855868_*551007del" "r.0" "p.0" "" "0001012278" "00025302" "70" "1398" "-19004" "2690" "1582" "c.(?_1398-19004)_(2690+1582_?)dup" "r.1398_2690dup" "p.[Glu897Asp;Glu897_Asn898insPro467_Glu897]" "9i_12i" "0001016327" "00025302" "90" "-7168092" "0" "1614058" "0" "c.(?_-7168092)_(*1610122_?)del" "r.0" "p.0" "" "0001018761" "00025302" "90" "-1303247" "0" "1406569" "0" "c.(?_-1303247)_(*1402633_?)del" "r.0" "p.0" "" "0001044150" "00025302" "30" "48" "-70726" "48" "-70723" "c.48-70726_48-70723del" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 53 "{{screeningid}}" "{{variantid}}" "0000000019" "0000001295" "0000000019" "0000001296" "0000000209" "0000002192" "0000000209" "0000002193" "0000000209" "0000003287" "0000000209" "0000003288" "0000000209" "0000003289" "0000000209" "0000007809" "0000000209" "0000007810" "0000000209" "0000007811" "0000000209" "0000007812" "0000000209" "0000007813" "0000000209" "0000007814" "0000000209" "0000007815" "0000000209" "0000007816" "0000000209" "0000007817" "0000000209" "0000007818" "0000000209" "0000007819" "0000000209" "0000007820" "0000000209" "0000007821" "0000000209" "0000007822" "0000000209" "0000007823" "0000000209" "0000007824" "0000000210" "0000009966" "0000000210" "0000009967" "0000000210" "0000009968" "0000000210" "0000009969" "0000000210" "0000009970" "0000000210" "0000009971" "0000000210" "0000009972" "0000000210" "0000009973" "0000000210" "0000009974" "0000000210" "0000009975" "0000000210" "0000009976" "0000000210" "0000009977" "0000000210" "0000009978" "0000000210" "0000009979" "0000000210" "0000009980" "0000000210" "0000009981" "0000000210" "0000011274" "0000000210" "0000011275" "0000000210" "0000015781" "0000000210" "0000015788" "0000168984" "0000379122" "0000173325" "0000393182" "0000173326" "0000393183" "0000173327" "0000393184" "0000308852" "0000683286" "0000457119" "0001011566" "0000457120" "0001011567" "0000457731" "0001012278" "0000458763" "0001016327" "0000459825" "0001018761"