### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BRWD3) # 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}}" "BRWD3" "bromodomain and WD repeat domain containing 3" "X" "q21.1" "unknown" "NG_021349.1" "UD_132118393830" "" "https://www.LOVD.nl/BRWD3" "" "1" "17342" "254065" "300553" "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/BRWD3_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2020-05-11 17:04:35" "00006" "2025-08-26 16:10:05" ## 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}}" "00000408" "BRWD3" "bromodomain and WD repeat domain containing 3" "001" "NM_153252.4" "" "NP_694984.4" "" "" "" "-263" "12530" "5409" "79924987" "80065233" "00000" "2012-09-13 12:12:29" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "00826" "XLID93;MRX93" "intellectual developmental disorder, X-linked type 93 (MRX93)" "AR" "300659" "" "intellectual disability (HP:0001249) 19/19; motor delay (HP:0001270) 18/19; speech articulation difficulties (HP:0009088) 18/19; macrocephaly at birth (HP:0004488) 12/14; behavioral disturbances (HP:0000708) 15/18; frontal bossing (HP:0002007) 14/19; large forehead (HP:0002003) 14/19; macrocephaly (HP:0000256) 14/19; large ears (HP:0000400) 11/15; neonatal hypotonia (HP:0001319) 13/19; pointed chin (HP:0000307) 13/19; protruding ear (HP:0000411) 12/19; low-set ears (HP:0000369) 9/15; shyness (HP:0100962) 8/14; cupped ears (HP:0000378) 7/16; deep set eyes (HP:0000490) 6/14; wide eyebrows (HP:0011229) 6/14; obesity (HP:0001513) 5/14; overweight (HP:0025502) 5/14; tall stature (HP:0000098) 5/14; long face (HP:0000276) 6/18; high palate (HP:0000218) 3/14; large hands (HP:0001176) 3/14; hyperactivity (HP:0000752) 4/19; absent speech (HP:0001344) 3/19; cryptorchidism (HP:0000028) 3/19; anteverted nares (HP:0000463) 2/14; cubitus valgus (HP:0002967) 2/14; falls (HP:0002527) 2/14; kyphosis (HP:0002808) 2/14; large birth weight-macrosomia (HP:0001520) 2/14; overgrowth (HP:0001548) 2/14; short finger (HP:0009381) 2/14; increased length at birth (HP:0003517) 2/16; downturned corner of the mouth (HP:0002714) 1/9; short palpebral fissures (HP:0012745) 1/9; wide nose (HP:0000445) 1/9; delayed puberty (HP:0000823) 1/14; hearing impairment (HP:0000365) 1/14; hypertelorism (HP:0000316) 1/14; ptosis (HP:0000508) 1/14; scoliosis (HP:0002650) 1/14; short stature (HP:0004322) 1/14; cleft palate (HP:0000175) 1/19" "" "00006" "2014-09-25 23:29:40" "00006" "2024-05-16 16:31:09" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "BRWD3" "00139" "BRWD3" "00826" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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" "" "" "" "" "00173546" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173628" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00289312" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00295944" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00307725" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410888" "00307726" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410935" "00440469" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2065.1" "00449829" "" "" "" "2" "" "00006" "{PMID:Field 2007:17668385}, {DOI:Field 2007:10.1086/520677}" "3-generation family, 2 affected (male, uncle)" "M" "" "Australia" "" "0" "" "" "" "Fam322" "00449830" "" "" "" "5" "" "00006" "{PMID:Field 2007:17668385}, {DOI:Field 2007:10.1086/520677}" "3-generation family, 5 affected males, 3 unaffected carrier females" "M" "" "Australia" "" "0" "" "" "" "Fam336" "00449831" "" "" "" "5" "" "00006" "{PMID:Gedeon 1994:7943039}, {PMID:Field 2007:17668385}, {DOI:Field 2007:10.1086/520677}" "3-generation family, 5 affected (3 brothers, cousin, uncle)" "M" "" "Australia" "" "0" "" "" "" "FamE;Fam328" "00449832" "" "" "" "1" "" "00006" "{PMID:Tenorio 2019:30628072}, {DOI:Tenorio 2019:10.1111/cge.13504}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Spain" "" "0" "" "" "" "Pat1" "00449833" "" "" "" "1" "" "00006" "{PMID:Tenorio 2019:30628072}, {DOI:Tenorio 2019:10.1111/cge.13504}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "Spain" "" "0" "" "" "" "Pat2" "00449834" "" "" "" "2" "" "00006" "{PMID:Tenorio 2019:30628072}, {DOI:Tenorio 2019:10.1111/cge.13504}" "2-generation family, 2 affected brothers, unaffected non-carrier parents" "M" "" "Spain" "" "0" "" "" "" "FamPat3/4" "00449835" "" "" "" "1" "" "00006" "{PMID:Tenorio 2019:30628072}, {DOI:Tenorio 2019:10.1111/cge.13504}" "2-generation family, 1 affected, unaffected parents" "M" "" "Spain" "" "0" "" "" "" "Pat5" "00449836" "" "" "" "1" "" "00006" "{PMID:Grotto 2014:24462886}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "France" "" "0" "" "" "" "Fam15709Pat1" "00449837" "" "" "" "4" "" "00006" "{PMID:Grotto 2014:24462886}" "3-generation family, 3 affected brothers/1 half-brother, 3 carrier females" "M" "" "Estonia" "" "0" "" "" "" "FamW090806PatIII1" "00449838" "" "" "00449837" "1" "" "00006" "{PMID:Grotto 2014:24462886}" "half-brother" "M" "" "Estonia" "" "0" "" "" "" "FamW090806PatIII2" "00449839" "" "" "00449837" "1" "" "00006" "{PMID:Grotto 2014:24462886}" "half-brother" "M" "" "Estonia" "" "0" "" "" "" "FamW090806PatIII3" "00449840" "" "" "00449837" "1" "" "00006" "{PMID:Grotto 2014:24462886}" "half-brother" "M" "" "Estonia" "" "0" "" "" "" "FamW090806PatIII5" "00450276" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0222" "00450277" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1291" "00450278" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1785" "00450279" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0055" "00450280" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0091" "00450281" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG0800" "00450282" "" "" "" "1" "" "00006" "{PMID:Tatton-Brown 2017:28475857}" "patient" "" "" "United States" "" "0" "" "" "" "COG1976" "00458837" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 29 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00173546" "00187" "00173628" "00187" "00289312" "00198" "00295944" "00198" "00307725" "00139" "00307726" "00139" "00440469" "00198" "00449829" "00139" "00449830" "00139" "00449831" "00139" "00449832" "00139" "00449833" "00139" "00449834" "00139" "00449835" "00139" "00449836" "00198" "00449837" "00139" "00449838" "00139" "00449839" "00139" "00449840" "00139" "00450276" "00198" "00450277" "00198" "00450278" "00198" "00450279" "00198" "00450280" "00198" "00450281" "00198" "00450282" "00198" "00458837" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 00198, 00826, 01157, 05611 ## Count = 27 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000138410" "00187" "00173546" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000138492" "00187" "00173628" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "MRX" "" "0000222943" "00198" "00289312" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750); Toe walking (HP:0040083); Genu valgum (HP:0002857); Large fleshy ears (HP:0002265); Prominent forehead (HP:0011220); High palate (HP:0000218); Broad-based gait (HP:0002136); Macrocephaly (HP:0000256)" "" "" "" "" "" "" "" "" "" "" "" "" "0000223420" "00198" "00295944" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Abnormality of nervous system physiology (HP:0012638); Macrocephaly (HP:0000256); Abnormality of the skull (HP:0000929)" "" "" "" "" "" "" "" "" "" "" "" "" "0000330379" "00198" "00440469" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "X-linked mental retardation 93 (MIM #300659)" "" "" "0000338976" "00139" "00449829" "00006" "Familial, X-linked recessive" "" "see paper; ..., macrocephaly,prominent forehead, large cupped ears, mild-to-moderate intellectual disability; aunt mild cognitive difficulties during early childhood" "" "" "" "" "" "" "" "" "" "XLID93" "nonsyndromic X-linked intellectual disability" "" "0000338977" "00139" "00449830" "00006" "Familial, X-linked recessive" "" "see paper; ..., macrocephaly,prominent forehead, large cupped ears, mild-to-moderate intellectual disability" "" "" "" "" "" "" "" "" "" "XLID93" "nonsyndromic X-linked intellectual disability" "" "0000338978" "00139" "00449831" "00006" "Familial, X-linked recessive" "" "see paper; ..., borderline-to-mild intellectual disability, speech delay, no macrocephaly, no tall stature in childhood; large, prominent ears (ear length >2 SD), triangular face, pointed chin" "" "" "" "" "" "" "" "" "" "XLID93" "nonsyndromic X-linked intellectual disability" "" "0000338979" "00139" "00449832" "00006" "Familial, X-linked recessive" "" "see paper; ..., X-linked intellectual disability, overgrowth" "" "" "" "" "" "" "" "" "" "XLID93" "X-linked intellectual disability, overgrowth" "" "0000338980" "00139" "00449833" "00006" "Familial, autosomal recessive" "18y" "see paper; ..., X-linked intellectual disability, overgrowth" "" "" "" "" "" "" "" "" "" "XLID93" "X-linked intellectual disability, overgrowth" "" "0000338981" "00139" "00449834" "00006" "Familial, X-linked recessive" "" "see paper; ..., X-linked intellectual disability, overgrowth" "" "" "" "" "" "" "" "" "" "XLID93" "X-linked intellectual disability, overgrowth" "" "0000338982" "00139" "00449835" "00006" "Familial, X-linked recessive" "" "see paper; ..., X-linked intellectual disability, overgrowth" "" "" "" "" "" "" "" "" "" "XLID93" "X-linked intellectual disability, overgrowth" "" "0000338983" "00198" "00449836" "00006" "Isolated (sporadic)" "20y" "see paper; ..., birth weight >97th, height 97th, OFC >97th, walk-18m; overweight (BMI 43.3), height >99th, OFC >99th; speech delay; intellectual disability; shyness, quick-tempered behavior; high forehead, deep-set eyes, hypertelorism, short palpebral fissures, anteverted nares, downturned corners of the mouth, pointed chin, underfolded helix; broad hands/feet; delayed puberty; muscular hypotonia; joint laxity, genu valgum, pes planus, scoliosis" "" "" "" "" "" "" "" "" "" "XLID93" "overgrowth" "" "0000338984" "00139" "00449837" "00006" "Familial, X-linked recessive" "27y" "see paper; ..., birth weight 3-97th, height 3-97th, walk-12m; overweight (BMI 28.7), height 50-90th, OFC >99th; speech delay; intellectual disability; shy and reserved with strangers; high and prominent forehead, wide eyebrows, high nasal bridge, upturned nose, high palate; wide tips fingers/toes; no muscular hypotonia; mild kyphosis" "" "" "" "" "" "" "" "" "" "XLID93" "intellectual disability" "" "0000338985" "00139" "00449838" "00006" "Familial, X-linked recessive" "25y" "see paper; ..., birth weight 3-97th, height 3-97th, walk-18m; weight normal, height 50th, OFC 90-95th; speech delay; intellectual disability; shy and reserved with strangers; high forehead, deep-set eyes, broad and thick eyebrows, synophrysis, bear shape nose, high palate, prominent chin, dysplastic ears; large hands/feet; no muscular hypotonia; cubitus valgus" "" "" "" "" "" "" "" "" "" "XLID93" "intellectual disability" "" "0000338986" "00139" "00449839" "00006" "Familial, X-linked recessive" "24y" "see paper; ..., birth weight 3-97th, height 3-97th, walk-12m; mild overweight (BMI 26.1), height 50-90th, OFC 99th; speech delay; intellectual disability; no behavioral disturbance; high forehead, deep-set eyes, broad and thick eyebrows, synophrysis, high nasal bridge, bear shape nose, high palate, anteverted prominent ears; large hands/feet, wide tips fingers/toes; no muscular hypotonia; cubitus valgus" "" "" "" "" "" "" "" "" "" "XLID93" "intellectual disability" "" "0000338987" "00139" "00449840" "00006" "Familial, X-linked recessive" "19y" "see paper; ..., birth weight 3-97th, height 3-97th, walk-18m; weight normal, height 50th, OFC 50th; speech delay; intellectual disability; shy and reserved with strangers; high forehead, broad and thick eyebrows, deep-set eyes, wide nasal bridge, prominent chin; wide first toe; no muscular hypotonia; scoliosis" "" "" "" "" "" "" "" "" "" "XLID93" "intellectual disability" "" "0000339336" "00198" "00450276" "00006" "Unknown" "35y" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339337" "00198" "00450277" "00006" "Unknown" "7y" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339338" "00198" "00450278" "00006" "Unknown" "15y" "overgrowth head, overgrowth height; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339339" "00198" "00450279" "00006" "Unknown" "6y9m" "overgrowth head; mild intellectual disability;" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339340" "00198" "00450280" "00006" "Unknown" "6y9m" "overgrowth; Intellectual disability;" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339341" "00198" "00450281" "00006" "Unknown" "16y" "overgrowth height; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000339342" "00198" "00450282" "00006" "Unknown" "4y" "overgrowth head; moderate intellectual disability;" "" "" "" "" "" "" "" "" "" "" "overgrowth" "" "0000347267" "05611" "00458837" "03544" "Isolated (sporadic)" "" "HP:0002342, HP:0001382, HP:0000098" "" "" "" "" "" "" "" "" "" "XLID93" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{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" "" "" "0000174429" "00173546" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174511" "00173628" "1" "00124" "00006" "2009-05-08 12:40:34" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000290482" "00289312" "1" "01807" "01807" "2020-03-02 12:47:20" "" "" "SEQ" "DNA" "" "" "0000297116" "00295944" "1" "01164" "01164" "2020-03-30 10:44:55" "" "" "SEQ-NG-S" "DNA" "" "" "0000308865" "00307725" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308866" "00307726" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000441954" "00440469" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451425" "00449829" "1" "00006" "00006" "2024-05-16 15:37:52" "00006" "2024-05-16 15:43:08" "RT-PCR;SEQ" "DNA;RNA" "" "gene panel" "0000451426" "00449830" "1" "00006" "00006" "2024-05-16 15:48:01" "" "" "SEQ" "DNA" "" "" "0000451427" "00449831" "1" "00006" "00006" "2024-05-16 15:56:08" "" "" "SEQ" "DNA" "" "" "0000451428" "00449832" "1" "00006" "00006" "2024-05-16 16:08:58" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000451429" "00449833" "1" "00006" "00006" "2024-05-16 16:12:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000451430" "00449834" "1" "00006" "00006" "2024-05-16 16:16:33" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000451431" "00449835" "1" "00006" "00006" "2024-05-16 16:22:15" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000451432" "00449836" "1" "00006" "00006" "2024-05-16 17:02:51" "" "" "arrayCGH" "DNA" "" "" "0000451433" "00449837" "1" "00006" "00006" "2024-05-16 17:11:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451434" "00449838" "1" "00006" "00006" "2024-05-16 17:11:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451435" "00449839" "1" "00006" "00006" "2024-05-16 17:11:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451436" "00449840" "1" "00006" "00006" "2024-05-16 17:11:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451872" "00450276" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451873" "00450277" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451874" "00450278" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451875" "00450279" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451876" "00450280" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451877" "00450281" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000451878" "00450282" "1" "00006" "00006" "2024-05-24 16:57:38" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000460458" "00458837" "1" "03544" "03544" "2024-12-21 09:50:36" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{geneid}}" "0000174429" "ATP11C" "0000174511" "SEPT6" "0000308865" "BRWD3" "0000308866" "BRWD3" "0000451425" "BRWD3" "0000451426" "BRWD3" "0000451427" "BRWD3" ## 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 = 152 "{{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}}" "0000002035" "0" "50" "X" "79942621" "79942622" "del" "0" "00037" "BRWD3_000014" "g.79942621_79942622del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80687122_80687123del" "" "VUS" "" "0000002036" "20" "50" "X" "79999797" "79999799" "dup" "0" "00037" "BRWD3_000031" "g.79999797_79999799dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80744298_80744300dup" "" "VUS" "" "0000003071" "20" "50" "X" "79999797" "79999799" "dup" "0" "00037" "BRWD3_000039" "g.79999797_79999799dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80744298_80744300dup" "" "VUS" "" "0000003072" "0" "50" "X" "80064259" "80064259" "del" "0" "00037" "BRWD3_000033" "g.80064259del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80808760del" "" "VUS" "" "0000003073" "0" "50" "X" "80064259" "80064260" "del" "0" "00037" "BRWD3_000035" "g.80064259_80064260del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80808760_80808761del" "" "VUS" "" "0000007213" "20" "50" "X" "79928258" "79928258" "subst" "0" "00037" "BRWD3_000008" "g.79928258C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80672759C>G" "" "VUS" "" "0000007214" "20" "50" "X" "79943569" "79943569" "=" "0" "00037" "BRWD3_000015" "g.79943569=" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.80688070=" "" "VUS" "" "0000007215" "20" "50" "X" "79947186" "79947186" "subst" "0" "00037" "BRWD3_000018" "g.79947186C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80691687C>A" "" "VUS" "" "0000007216" "20" "50" "X" "79979027" "79979027" "subst" "0" "00037" "BRWD3_000021" "g.79979027T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80723528T>C" "" "VUS" "" "0000007217" "20" "50" "X" "79985671" "79985671" "subst" "0" "00037" "BRWD3_000024" "g.79985671A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80730172A>C" "" "VUS" "" "0000007218" "20" "50" "X" "79989018" "79989018" "subst" "0.4811" "00037" "BRWD3_000025" "g.79989018C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80733519C>G" "" "VUS" "" "0000007219" "20" "50" "X" "79991754" "79991754" "subst" "0" "00037" "BRWD3_000029" "g.79991754C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80736255C>T" "" "VUS" "" "0000007220" "20" "50" "X" "80048998" "80048998" "subst" "0" "00037" "BRWD3_000001" "g.80048998C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80793499C>T" "" "VUS" "" "0000009313" "20" "50" "X" "79928258" "79928258" "subst" "0" "00037" "BRWD3_000008" "g.79928258C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80672759C>G" "" "VUS" "" "0000009314" "0" "50" "X" "79942619" "79942622" "del" "0" "00037" "BRWD3_000013" "g.79942619_79942622del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80687120_80687123del" "" "VUS" "" "0000009315" "20" "50" "X" "79943569" "79943569" "=" "0" "00037" "BRWD3_000015" "g.79943569=" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.80688070=" "" "VUS" "" "0000009316" "20" "50" "X" "79947186" "79947186" "subst" "0" "00037" "BRWD3_000018" "g.79947186C>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80691687C>A" "" "VUS" "" "0000009317" "20" "50" "X" "79979027" "79979027" "subst" "0" "00037" "BRWD3_000021" "g.79979027T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80723528T>C" "" "VUS" "" "0000009318" "20" "50" "X" "79989018" "79989018" "subst" "0.4811" "00037" "BRWD3_000025" "g.79989018C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80733519C>G" "" "VUS" "" "0000009319" "0" "50" "X" "79989108" "79989108" "dup" "0" "00037" "BRWD3_000028" "g.79989108dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80733609dup" "" "VUS" "" "0000009320" "20" "50" "X" "79999797" "79999799" "dup" "0" "00037" "BRWD3_000031" "g.79999797_79999799dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80744298_80744300dup" "" "VUS" "" "0000009321" "20" "50" "X" "80048998" "80048998" "subst" "0" "00037" "BRWD3_000001" "g.80048998C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80793499C>T" "" "VUS" "" "0000011054" "0" "50" "X" "79942599" "79942600" "del" "0" "00037" "BRWD3_000037" "g.79942599_79942600del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80687100_80687101del" "" "VUS" "" "0000011055" "0" "50" "X" "79942599" "79942604" "del" "0" "00037" "BRWD3_000038" "g.79942599_79942604del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80687100_80687105del" "" "VUS" "" "0000011056" "20" "50" "X" "79999797" "79999799" "dup" "0" "00037" "BRWD3_000039" "g.79999797_79999799dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80744298_80744300dup" "" "VUS" "" "0000011057" "0" "50" "X" "80064259" "80064259" "del" "0" "00037" "BRWD3_000033" "g.80064259del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80808760del" "" "VUS" "" "0000011058" "0" "50" "X" "80064259" "80064260" "del" "0" "00037" "BRWD3_000035" "g.80064259_80064260del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80808760_80808761del" "" "VUS" "" "0000015193" "20" "50" "X" "79991754" "79991754" "subst" "0" "00037" "BRWD3_000029" "g.79991754C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.80736255C>T" "" "VUS" "" "0000266336" "0" "10" "X" "79943569" "79943569" "subst" "0.997861" "02325" "BRWD3_000015" "g.79943569T>C" "" "" "" "BRWD3(NM_153252.5):c.3863A>G (p.K1288R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80688070T>C" "" "benign" "" "0000266337" "0" "30" "X" "79932416" "79932416" "subst" "0.000390411" "02325" "BRWD3_000040" "g.79932416C>T" "" "" "" "BRWD3(NM_153252.4):c.5101G>A (p.G1701R), BRWD3(NM_153252.5):c.5101G>A (p.G1701R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80676917C>T" "" "likely benign" "" "0000266338" "0" "30" "X" "80001086" "80001086" "subst" "0.000171302" "02325" "BRWD3_000050" "g.80001086G>A" "" "" "" "BRWD3(NM_153252.5):c.573C>T (p.S191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80745587G>A" "" "likely benign" "" "0000268008" "0" "50" "X" "79980453" "79980453" "subst" "0" "02329" "BRWD3_000047" "g.79980453T>G" "" "" "" "BRWD3(NM_153252.5):c.1500A>C (p.K500N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80724954T>G" "" "VUS" "" "0000268009" "0" "70" "X" "79936909" "79936909" "subst" "0" "02329" "BRWD3_000041" "g.79936909G>A" "" "" "" "BRWD3(NM_153252.5):c.4585C>T (p.R1529*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80681410G>A" "" "likely pathogenic" "" "0000269384" "0" "30" "X" "79971651" "79971651" "subst" "0.00620202" "02326" "BRWD3_000046" "g.79971651C>T" "" "" "" "BRWD3(NM_153252.4):c.2325+5G>A (p.?), BRWD3(NM_153252.5):c.2325+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80716152C>T" "" "likely benign" "" "0000272166" "0" "50" "X" "79989618" "79989618" "subst" "3.35796E-5" "01943" "BRWD3_000049" "g.79989618G>A" "" "" "" "BRWD3(NM_153252.4):c.1085C>T (p.T362M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80734119G>A" "" "VUS" "" "0000272167" "0" "30" "X" "79988964" "79988964" "subst" "5.68492E-6" "01943" "BRWD3_000048" "g.79988964T>C" "" "" "" "BRWD3(NM_153252.4):c.1118A>G (p.N373S, p.(Asn373Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80733465T>C" "" "likely benign" "" "0000272168" "0" "30" "X" "80064957" "80064957" "subst" "0.000562083" "01943" "BRWD3_000053" "g.80064957G>C" "" "" "" "BRWD3(NM_153252.4):c.14C>G (p.P5R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80809458G>C" "" "likely benign" "" "0000272169" "0" "30" "X" "80064802" "80064802" "subst" "0.0035242" "01943" "BRWD3_000052" "g.80064802C>T" "" "" "" "BRWD3(NM_153252.4):c.33G>A (p.E11=, p.(Glu11=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80809303C>T" "" "likely benign" "" "0000272170" "0" "50" "X" "79937967" "79937967" "subst" "0" "01943" "BRWD3_000043" "g.79937967G>C" "" "" "" "BRWD3(NM_153252.4):c.4394C>G (p.P1465R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80682468G>C" "" "VUS" "" "0000272171" "0" "30" "X" "79937520" "79937520" "subst" "5.60689E-6" "01943" "BRWD3_000042" "g.79937520T>C" "" "" "" "BRWD3(NM_153252.4):c.4471A>G (p.T1491A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80682021T>C" "" "likely benign" "" "0000272172" "0" "30" "X" "79932416" "79932416" "subst" "0.000390411" "01943" "BRWD3_000040" "g.79932416C>T" "" "" "" "BRWD3(NM_153252.4):c.5101G>A (p.G1701R), BRWD3(NM_153252.5):c.5101G>A (p.G1701R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80676917C>T" "" "likely benign" "" "0000334782" "0" "50" "X" "79959085" "79959085" "subst" "0.000968886" "01804" "BRWD3_000045" "g.79959085C>G" "" "" "" "BRWD3(NM_153252.4):c.2729G>C (p.(Gly910Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80703586C>G" "" "VUS" "" "0000338780" "0" "70" "X" "80001067" "80001067" "subst" "0" "02327" "BRWD3_000060" "g.80001067C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80745568C>T" "" "likely pathogenic" "" "0000341931" "0" "50" "X" "79938022" "79938022" "subst" "2.24205E-5" "02327" "BRWD3_000055" "g.79938022G>A" "" "" "" "BRWD3(NM_153252.4):c.4339C>T (p.R1447W), BRWD3(NM_153252.5):c.4339C>T (p.R1447W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80682523G>A" "" "VUS" "" "0000342069" "0" "50" "X" "79932343" "79932343" "subst" "0" "02327" "BRWD3_000054" "g.79932343C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80676844C>T" "" "VUS" "" "0000343496" "0" "70" "X" "79959014" "79959014" "subst" "0" "02327" "BRWD3_000058" "g.79959014G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80703515G>A" "" "likely pathogenic" "" "0000343732" "0" "50" "X" "79988964" "79988964" "subst" "5.68492E-6" "02327" "BRWD3_000048" "g.79988964T>C" "" "" "" "BRWD3(NM_153252.4):c.1118A>G (p.N373S, p.(Asn373Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80733465T>C" "" "VUS" "" "0000345901" "0" "50" "X" "80064768" "80064768" "subst" "0" "02327" "BRWD3_000062" "g.80064768C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80809269C>G" "" "VUS" "" "0000347046" "0" "50" "X" "79999566" "79999566" "subst" "0" "02327" "BRWD3_000059" "g.79999566G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80744067G>T" "" "VUS" "" "0000347941" "0" "50" "X" "79945536" "79945536" "subst" "0" "02327" "BRWD3_000056" "g.79945536A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80690037A>G" "" "VUS" "" "0000351380" "0" "70" "X" "80001091" "80001091" "subst" "0" "02327" "BRWD3_000061" "g.80001091G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.80745592G>A" "" "likely pathogenic" "" "0000401003" "1" "50" "X" "79932731" "79932731" "subst" "0" "00124" "BRWD3_000063" "g.79932731T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "K1596E" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.80677232T>C" "" "VUS" "" "0000401038" "1" "50" "X" "79990665" "79990665" "dup" "0" "00124" "BRWD3_000064" "g.79990665dup" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "R316Kfs*22" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.80735166dup" "" "VUS" "" "0000577617" "0" "50" "X" "79932269" "79932269" "subst" "0" "02327" "BRWD3_000065" "g.79932269T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80676770T>A" "" "VUS" "" "0000577618" "0" "50" "X" "79932344" "79932344" "subst" "0" "02327" "BRWD3_000066" "g.79932344G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80676845G>A" "" "VUS" "" "0000577619" "0" "30" "X" "79932387" "79932387" "subst" "0.000833972" "01943" "BRWD3_000067" "g.79932387C>A" "" "" "" "BRWD3(NM_153252.4):c.5130G>T (p.G1710=, p.(Gly1710=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80676888C>A" "" "likely benign" "" "0000577620" "0" "30" "X" "79937984" "79937984" "subst" "0.000252157" "01943" "BRWD3_000068" "g.79937984T>C" "" "" "" "BRWD3(NM_153252.4):c.4377A>G (p.L1459=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80682485T>C" "" "likely benign" "" "0000577621" "0" "30" "X" "79946676" "79946676" "subst" "6.79432E-5" "02326" "BRWD3_000069" "g.79946676C>G" "" "" "" "BRWD3(NM_153252.5):c.3482-4G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80691177C>G" "" "likely benign" "" "0000577622" "0" "50" "X" "79947334" "79947334" "subst" "0" "01804" "BRWD3_000070" "g.79947334G>A" "" "" "" "BRWD3(NM_153252.4):c.3469C>T (p.(Leu1157Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80691835G>A" "" "VUS" "" "0000577624" "0" "50" "X" "79947370" "79947370" "subst" "1.11984E-5" "01943" "BRWD3_000071" "g.79947370C>T" "" "" "" "BRWD3(NM_153252.4):c.3433G>A (p.E1145K, p.(Glu1145Lys)), BRWD3(NM_153252.5):c.3433G>A (p.E1145K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80691871C>T" "" "VUS" "" "0000577625" "0" "50" "X" "79947370" "79947370" "subst" "1.11984E-5" "02325" "BRWD3_000071" "g.79947370C>T" "" "" "" "BRWD3(NM_153252.4):c.3433G>A (p.E1145K, p.(Glu1145Lys)), BRWD3(NM_153252.5):c.3433G>A (p.E1145K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80691871C>T" "" "VUS" "" "0000577626" "0" "90" "X" "79947606" "79947606" "subst" "0" "01943" "BRWD3_000072" "g.79947606C>A" "" "" "" "BRWD3(NM_153252.4):c.3307G>T (p.E1103*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80692107C>A" "" "pathogenic" "" "0000577627" "0" "30" "X" "79973207" "79973207" "subst" "2.79968E-5" "01804" "BRWD3_000073" "g.79973207C>T" "" "" "" "BRWD3(NM_153252.4):c.2096G>A (p.R699Q, p.(Arg699Gln)), BRWD3(NM_153252.5):c.2096G>A (p.R699Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80717708C>T" "" "likely benign" "" "0000577628" "0" "50" "X" "79990694" "79990694" "subst" "0" "02327" "BRWD3_000074" "g.79990694T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80735195T>C" "" "VUS" "" "0000577629" "0" "30" "X" "79999747" "79999747" "subst" "0.00489966" "02325" "BRWD3_000075" "g.79999747T>G" "" "" "" "BRWD3(NM_153252.5):c.597A>C (p.S199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80744248T>G" "" "likely benign" "" "0000577631" "0" "30" "X" "80064802" "80064802" "subst" "0.0035242" "01804" "BRWD3_000052" "g.80064802C>T" "" "" "" "BRWD3(NM_153252.4):c.33G>A (p.E11=, p.(Glu11=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80809303C>T" "" "likely benign" "" "0000619924" "0" "30" "X" "79932416" "79932416" "subst" "0.000390411" "02326" "BRWD3_000040" "g.79932416C>T" "" "" "" "BRWD3(NM_153252.4):c.5101G>A (p.G1701R), BRWD3(NM_153252.5):c.5101G>A (p.G1701R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80676917C>T" "" "likely benign" "" "0000619925" "0" "50" "X" "79938022" "79938022" "subst" "2.24205E-5" "02325" "BRWD3_000055" "g.79938022G>A" "" "" "" "BRWD3(NM_153252.4):c.4339C>T (p.R1447W), BRWD3(NM_153252.5):c.4339C>T (p.R1447W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80682523G>A" "" "VUS" "" "0000619926" "0" "50" "X" "79947370" "79947370" "subst" "1.11984E-5" "01804" "BRWD3_000071" "g.79947370C>T" "" "" "" "BRWD3(NM_153252.4):c.3433G>A (p.E1145K, p.(Glu1145Lys)), BRWD3(NM_153252.5):c.3433G>A (p.E1145K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80691871C>T" "" "VUS" "" "0000619927" "0" "30" "X" "79959030" "79959030" "subst" "0.000133451" "01943" "BRWD3_000078" "g.79959030G>T" "" "" "" "BRWD3(NM_153252.4):c.2784C>A (p.I928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80703531G>T" "" "likely benign" "" "0000619928" "0" "50" "X" "79959041" "79959041" "subst" "1.16029E-5" "02327" "BRWD3_000079" "g.79959041G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80703542G>A" "" "VUS" "" "0000619929" "0" "30" "X" "79971651" "79971651" "subst" "0.00620202" "01804" "BRWD3_000046" "g.79971651C>T" "" "" "" "BRWD3(NM_153252.4):c.2325+5G>A (p.?), BRWD3(NM_153252.5):c.2325+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80716152C>T" "" "likely benign" "" "0000619930" "0" "30" "X" "79973152" "79973152" "subst" "5.5997E-6" "01943" "BRWD3_000080" "g.79973152C>T" "" "" "" "BRWD3(NM_153252.4):c.2151G>A (p.R717=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80717653C>T" "" "likely benign" "" "0000619931" "0" "50" "X" "80001214" "80001214" "subst" "0" "01943" "BRWD3_000082" "g.80001214C>T" "" "" "" "BRWD3(NM_153252.4):c.445G>A (p.A149T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80745715C>T" "" "VUS" "" "0000624735" "0" "30" "X" "79932225" "79932225" "subst" "0" "01943" "BRWD3_000077" "g.79932225A>T" "" "" "" "BRWD3(NM_153252.4):c.5292T>A (p.D1764E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80676726A>T" "" "likely benign" "" "0000624736" "0" "10" "X" "79991603" "79991603" "dup" "0" "02330" "BRWD3_000081" "g.79991603dup" "" "" "" "BRWD3(NM_153252.4):c.814-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80736104dup" "" "benign" "" "0000647154" "3" "70" "X" "80064532" "80064532" "subst" "0" "01807" "BRWD3_000083" "g.80064532G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.80809033G>A" "" "likely pathogenic" "" "0000659467" "0" "50" "X" "79978252" "79978252" "subst" "0" "02327" "BRWD3_000085" "g.79978252C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80722753C>T" "" "VUS" "" "0000659468" "0" "50" "X" "79988980" "79988980" "subst" "0" "02325" "BRWD3_000086" "g.79988980C>G" "" "" "" "BRWD3(NM_153252.5):c.1102G>C (p.V368L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80733481C>G" "" "VUS" "" "0000659469" "0" "50" "X" "80001199" "80001199" "subst" "0" "02325" "BRWD3_000087" "g.80001199C>T" "" "" "" "BRWD3(NM_153252.5):c.460G>A (p.G154S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.80745700C>T" "" "VUS" "" "0000659732" "0" "70" "X" "79947367" "79947367" "subst" "0" "01164" "BRWD3_000088" "g.79947367C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.80691868C>A" "" "likely pathogenic" "ACMG" "0000682673" "0" "70" "X" "79932863" "79932863" "subst" "0" "02327" "BRWD3_000089" "g.79932863C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000682674" "0" "30" "X" "79984330" "79984330" "subst" "0" "01943" "BRWD3_000090" "g.79984330G>A" "" "" "" "BRWD3(NM_153252.4):c.1307C>T (p.T436I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682675" "0" "30" "X" "80064538" "80064538" "subst" "0" "01943" "BRWD3_000091" "g.80064538G>A" "" "" "" "BRWD3(NM_153252.4):c.94C>T (p.L32=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683299" "0" "70" "X" "79999648" "79999648" "subst" "0" "00006" "BRWD3_000093" "g.79999648A>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80744149A>T" "" "likely pathogenic" "" "0000683300" "0" "70" "X" "79945283" "79945283" "del" "0" "00006" "BRWD3_000092" "g.79945283del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80689784del" "" "likely pathogenic" "" "0000693762" "0" "50" "X" "79938022" "79938022" "subst" "2.24205E-5" "01943" "BRWD3_000055" "g.79938022G>A" "" "" "" "BRWD3(NM_153252.4):c.4339C>T (p.R1447W), BRWD3(NM_153252.5):c.4339C>T (p.R1447W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693763" "0" "50" "X" "79973138" "79973138" "subst" "5.59854E-6" "02327" "BRWD3_000094" "g.79973138G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729228" "0" "90" "X" "79940974" "79940974" "subst" "0" "02329" "BRWD3_000044" "g.79940974G>T" "" "" "" "BRWD3(NM_153252.5):c.4067C>A (p.S1356*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000729229" "0" "50" "X" "79947370" "79947370" "subst" "1.11984E-5" "02329" "BRWD3_000071" "g.79947370C>T" "" "" "" "BRWD3(NM_153252.4):c.3433G>A (p.E1145K, p.(Glu1145Lys)), BRWD3(NM_153252.5):c.3433G>A (p.E1145K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729230" "0" "30" "X" "79947374" "79947374" "subst" "0" "01943" "BRWD3_000095" "g.79947374T>C" "" "" "" "BRWD3(NM_153252.4):c.3429A>G (p.R1143=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729231" "0" "30" "X" "79978179" "79978179" "subst" "0.000111872" "01943" "BRWD3_000096" "g.79978179A>T" "" "" "" "BRWD3(NM_153252.4):c.1758T>A (p.P586=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000729232" "0" "50" "X" "79988964" "79988964" "subst" "5.68492E-6" "01804" "BRWD3_000048" "g.79988964T>C" "" "" "" "BRWD3(NM_153252.4):c.1118A>G (p.N373S, p.(Asn373Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000729233" "0" "30" "X" "79990696" "79990696" "subst" "7.29284E-5" "02325" "BRWD3_000097" "g.79990696T>C" "" "" "" "BRWD3(NM_153252.5):c.915A>G (p.R305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810692" "0" "30" "X" "79932254" "79932254" "subst" "0" "01943" "BRWD3_000098" "g.79932254T>G" "" "" "" "BRWD3(NM_153252.4):c.5263A>C (p.R1755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810693" "0" "30" "X" "79960294" "79960294" "subst" "0" "01943" "BRWD3_000099" "g.79960294T>C" "" "" "" "BRWD3(NM_153252.4):c.2604A>G (p.L868=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810694" "0" "90" "X" "79973116" "79973116" "subst" "0" "02325" "BRWD3_000100" "g.79973116C>T" "" "" "" "BRWD3(NM_153252.5):c.2187G>A (p.W729*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810695" "0" "50" "X" "79974984" "79974987" "del" "0" "02329" "BRWD3_000101" "g.79974984_79974987del" "" "" "" "BRWD3(NM_153252.5):c.2044+4_2044+7delAGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810696" "0" "30" "X" "79985516" "79985516" "subst" "2.8244E-5" "01943" "BRWD3_000102" "g.79985516T>C" "" "" "" "BRWD3(NM_153252.4):c.1131A>G (p.L377=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000810697" "0" "30" "X" "80047435" "80047435" "subst" "2.37501E-5" "01943" "BRWD3_000103" "g.80047435T>C" "" "" "" "BRWD3(NM_153252.4):c.348A>G (p.L116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856815" "0" "50" "X" "79932337" "79932337" "subst" "5.61388E-6" "01943" "BRWD3_000104" "g.79932337C>T" "" "" "" "BRWD3(NM_153252.4):c.5180G>A (p.R1727H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856816" "0" "30" "X" "79947437" "79947437" "subst" "0" "01943" "BRWD3_000106" "g.79947437G>A" "" "" "" "BRWD3(NM_153252.4):c.3366C>T (p.S1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856817" "0" "30" "X" "79962936" "79962936" "subst" "6.75524E-5" "01943" "BRWD3_000107" "g.79962936T>C" "" "" "" "BRWD3(NM_153252.4):c.2542A>G (p.S848G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856818" "0" "50" "X" "79973207" "79973207" "subst" "2.79968E-5" "01943" "BRWD3_000073" "g.79973207C>T" "" "" "" "BRWD3(NM_153252.4):c.2096G>A (p.R699Q, p.(Arg699Gln)), BRWD3(NM_153252.5):c.2096G>A (p.R699Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856819" "0" "70" "X" "79989617" "79989617" "subst" "0" "02327" "BRWD3_000108" "g.79989617C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000856820" "0" "30" "X" "79999575" "79999575" "subst" "0.000386559" "01943" "BRWD3_000109" "g.79999575C>T" "" "" "" "BRWD3(NM_153252.4):c.769G>A (p.V257I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867586" "0" "30" "X" "79932387" "79932387" "subst" "0.000833972" "01804" "BRWD3_000067" "g.79932387C>A" "" "" "" "BRWD3(NM_153252.4):c.5130G>T (p.G1710=, p.(Gly1710=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867587" "0" "50" "X" "79938015" "79938015" "subst" "0" "01943" "BRWD3_000105" "g.79938015C>A" "" "" "" "BRWD3(NM_153252.4):c.4346G>T (p.R1449I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000867588" "0" "50" "X" "79973207" "79973207" "subst" "2.79968E-5" "02325" "BRWD3_000073" "g.79973207C>T" "" "" "" "BRWD3(NM_153252.4):c.2096G>A (p.R699Q, p.(Arg699Gln)), BRWD3(NM_153252.5):c.2096G>A (p.R699Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000896380" "0" "30" "X" "79947378" "79947378" "subst" "5.60158E-6" "02327" "BRWD3_000110" "g.79947378G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915769" "0" "50" "X" "79947619" "79947619" "subst" "0" "02327" "BRWD3_000111" "g.79947619G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915770" "0" "50" "X" "79973157" "79973157" "subst" "0" "02325" "BRWD3_000112" "g.79973157G>A" "" "" "" "BRWD3(NM_153252.5):c.2146C>T (p.P716S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000927427" "0" "50" "X" "79990674" "79990674" "subst" "0" "02329" "BRWD3_000114" "g.79990674C>T" "" "" "" "BRWD3(NM_153252.5):c.937G>A (p.E313K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931469" "0" "70" "X" "79945267" "79945267" "subst" "0" "02327" "BRWD3_000115" "g.79945267C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000931470" "0" "50" "X" "79971748" "79971748" "subst" "0" "02325" "BRWD3_000116" "g.79971748C>T" "" "" "" "BRWD3(NM_153252.5):c.2233G>A (p.V745I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000939896" "0" "70" "X" "79959013" "79959013" "subst" "0" "00006" "BRWD3_000117" "g.79959013C>G" "" "{PMID:Nambot 2018:29095811}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80703514C>G" "" "likely pathogenic (dominant)" "" "0000971365" "0" "10" "X" "79991603" "79991603" "dup" "0" "02329" "BRWD3_000081" "g.79991603dup" "" "" "" "BRWD3(NM_153252.5):c.814-4dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000984872" "0" "90" "X" "79943571" "79943571" "del" "0" "02329" "BRWD3_000118" "g.79943571del" "" "" "" "BRWD3(NM_153252.5):c.3863delA (p.K1288Rfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000984873" "0" "50" "X" "79979308" "79979308" "subst" "0" "01804" "BRWD3_000119" "g.79979308C>A" "" "" "" "BRWD3(NM_153252.5):c.1589G>T (p.(Cys530Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984874" "0" "30" "X" "79999521" "79999521" "subst" "0.0194404" "01804" "BRWD3_000120" "g.79999521C>G" "" "" "" "BRWD3(NM_153252.5):c.813+10G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984875" "0" "50" "X" "79999707" "79999707" "subst" "1.1203E-5" "01804" "BRWD3_000121" "g.79999707G>A" "" "" "" "BRWD3(NM_153252.5):c.637C>T (p.(Arg213Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985305" "21" "90" "X" "79947587" "79947587" "subst" "0" "00006" "BRWD3_000122" "g.79947587C>A" "" "{PMID:Field 2007:17668385}, {DOI:Field 2007:10.1086/520677}" "" "" "" "Germline" "yes" "" "0" "X-inactivation 96:4, 100:0, 86:14 of variant allele in 3 carrier females" "" "g.80692088C>A" "" "pathogenic (recessive)" "" "0000985306" "20" "90" "X" "79990665" "79990665" "dup" "0" "00006" "BRWD3_000064" "g.79990665dup" "" "{PMID:Field 2007:17668385}, {DOI:Field 2007:10.1086/520677}" "" "946-947insA" "" "Germline" "yes" "" "0" "" "" "g.80735166dup" "" "pathogenic (recessive)" "" "0000985307" "20" "70" "X" "79932731" "79932731" "subst" "0" "00006" "BRWD3_000063" "g.79932731T>C" "" "{PMID:Gedeon 1994:7943039}, {PMID:Field 2007:17668385}, {DOI:Field 2007:10.1086/520677}" "" "K1596E" "" "Germline" "yes" "" "0" "" "" "g.80677232T>C" "" "likely pathogenic (recessive)" "" "0000985308" "21" "90" "X" "79942391" "79942391" "subst" "0" "00006" "BRWD3_000123" "g.79942391G>A" "" "{PMID:Tenorio 2019:30628072}, {DOI:Tenorio 2019:10.1111/cge.13504}" "" "" "ACMG PVS1, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.80686892G>A" "" "pathogenic (recessive)" "ACMG" "0000985309" "21" "70" "X" "79947390" "79947390" "subst" "0" "00006" "BRWD3_000124" "g.79947390C>A" "" "{PMID:Tenorio 2019:30628072}, {DOI:Tenorio 2019:10.1111/cge.13504}" "" "" "ACMG PM1, PM2, PP3, PP4" "Germline" "" "" "0" "" "" "g.80691891C>A" "" "likely pathogenic (recessive)" "" "0000985310" "21" "90" "X" "79988954" "79988954" "subst" "0" "00006" "BRWD3_000125" "g.79988954C>T" "" "{PMID:Tenorio 2019:30628072}, {DOI:Tenorio 2019:10.1111/cge.13504}" "" "" "ACMG PVS1, PM2, PP3, PP4" "Germline" "yes" "" "0" "" "" "g.80733455C>T" "" "pathogenic" "ACMG" "0000985311" "0" "90" "X" "79932437" "79932437" "subst" "0" "00006" "BRWD3_000126" "g.79932437G>A" "" "{PMID:Tenorio 2019:30628072}, {DOI:Tenorio 2019:10.1111/cge.13504}" "" "" "ACMG PVS1, PM2, PP3, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.80676938G>A" "" "pathogenic (recessive)" "ACMG" "0000985315" "0" "90" "X" "79915277" "79989789" "del" "0" "00006" "BRWD3_000127" "g.(?_79915277)_(79989789_?)del" "" "{PMID:Grotto 2014:24462886}" "" "chrX:79915277-79989789del" "" "De novo" "" "" "0" "" "" "g.(?_80659778)_(80734290_?)del" "" "pathogenic" "" "0000985316" "21" "90" "X" "79947410" "79947410" "subst" "0" "00006" "BRWD3_000128" "g.79947410G>C" "" "{PMID:Grotto 2014:24462886}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80691911G>C" "" "pathogenic (recessive)" "" "0000985319" "21" "90" "X" "79947410" "79947410" "subst" "0" "00006" "BRWD3_000128" "g.79947410G>C" "" "{PMID:Grotto 2014:24462886}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80691911G>C" "" "pathogenic (recessive)" "" "0000985321" "21" "90" "X" "79947410" "79947410" "subst" "0" "00006" "BRWD3_000128" "g.79947410G>C" "" "{PMID:Grotto 2014:24462886}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80691911G>C" "" "pathogenic (recessive)" "" "0000985323" "21" "90" "X" "79947410" "79947410" "subst" "0" "00006" "BRWD3_000128" "g.79947410G>C" "" "{PMID:Grotto 2014:24462886}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80691911G>C" "" "pathogenic (recessive)" "" "0000985789" "0" "90" "X" "80001091" "80001091" "subst" "0" "00006" "BRWD3_000061" "g.80001091G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "mother unaffected" "Germline/De novo (untested)" "" "" "0" "" "" "g.80745592G>A" "" "pathogenic (dominant)" "" "0000985790" "0" "90" "X" "79999648" "79999648" "subst" "0" "00006" "BRWD3_000093" "g.79999648A>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "mother unaffected" "Germline/De novo (untested)" "" "" "0" "" "" "g.80744149A>T" "" "pathogenic (dominant)" "" "0000985791" "0" "70" "X" "80001210" "80001214" "del" "0" "00006" "BRWD3_000133" "g.80001210_80001214del" "" "{PMID:Tatton-Brown 2017:28475857}" "" "447_451del5" "mother unaffected" "Germline/De novo (untested)" "" "" "0" "" "" "g.80745711_80745715del" "" "likely pathogenic (dominant)" "" "0000985792" "0" "70" "X" "79973239" "79973241" "delins" "0" "00006" "BRWD3_000131" "g.79973239_79973241delinsATGG" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80717740_80717742delinsATGG" "" "likely pathogenic (dominant)" "" "0000985793" "0" "90" "X" "79971669" "79971669" "dup" "0" "00006" "BRWD3_000130" "g.79971669dup" "" "{PMID:Tatton-Brown 2017:28475857}" "" "2312dupA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80716170dup" "" "pathogenic (dominant)" "" "0000985794" "0" "90" "X" "79946551" "79946551" "subst" "0" "00006" "BRWD3_000129" "g.79946551C>T" "" "{PMID:Tatton-Brown 2017:28475857}" "" "3601+1G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80691052C>T" "" "pathogenic (dominant)" "" "0000985795" "0" "90" "X" "80001208" "80001208" "subst" "0" "00006" "BRWD3_000132" "g.80001208G>A" "" "{PMID:Tatton-Brown 2017:28475857}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80745709G>A" "" "pathogenic (dominant)" "" "0001006986" "0" "50" "X" "79937971" "79937971" "subst" "1.12105E-5" "01804" "BRWD3_000134" "g.79937971C>T" "" "" "" "BRWD3(NM_153252.4):c.4390G>A (p.(Ala1464Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006987" "0" "70" "X" "79959010" "79959013" "dup" "0" "01804" "BRWD3_000135" "g.79959010_79959013dup" "" "" "" "BRWD3(NM_153252.4):c.2801_2804dupGACG (p.(Ser936fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001006988" "0" "50" "X" "80064750" "80064750" "subst" "0" "01804" "BRWD3_000136" "g.80064750C>A" "" "" "" "BRWD3(NM_153252.4):c.85G>T (p.(Ala29Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011368" "0" "50" "X" "79947390" "79947390" "subst" "0" "03779" "BRWD3_000137" "g.79947390C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001019464" "20" "70" "X" "79939557" "79939557" "del" "0" "03544" "BRWD3_000138" "g.79939557del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.80684058del" "{CV:3393443}" "likely pathogenic" "ACMG" "0001027536" "0" "50" "X" "79938009" "79938009" "subst" "1.12084E-5" "02325" "BRWD3_000139" "g.79938009C>T" "" "" "" "BRWD3(NM_153252.5):c.4352G>A (p.R1451H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027537" "0" "50" "X" "79960177" "79960177" "subst" "0" "02329" "BRWD3_000140" "g.79960177C>A" "" "" "" "BRWD3(NM_153252.5):c.2721G>T (p.K907N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027538" "0" "90" "X" "79984364" "79984364" "subst" "0" "02325" "BRWD3_000141" "g.79984364T>A" "" "" "" "BRWD3(NM_153252.5):c.1273A>T (p.K425*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001029999" "0" "70" "X" "79947390" "79947390" "subst" "0" "03779" "BRWD3_000137" "g.79947390C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001044525" "0" "50" "X" "79942375" "79942377" "del" "0" "01804" "BRWD3_000142" "g.79942375_79942377del" "" "" "" "BRWD3(NM_153252.5):c.3994_3996del (p.(Leu1332del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044526" "0" "30" "X" "79946563" "79946563" "subst" "1.68632E-5" "01804" "BRWD3_000143" "g.79946563A>T" "" "" "" "BRWD3(NM_153252.5):c.3591T>A (p.(Asn1197Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044527" "0" "50" "X" "79962963" "79962963" "subst" "0" "02329" "BRWD3_000144" "g.79962963C>A" "" "" "" "BRWD3(NM_153252.5):c.2515G>T (p.D839Y)" "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 BRWD3 ## Count = 152 "{{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}}" "0000002035" "00000408" "50" "3865" "-99" "3865" "-98" "c.3865-99_3865-98del" "r.(=)" "p.(=)" "" "0000002036" "00000408" "50" "592" "-47" "592" "-45" "c.592-47_592-45dup" "r.(=)" "p.(=)" "" "0000003071" "00000408" "50" "592" "-47" "592" "-45" "c.592-47_592-45dup" "r.(=)" "p.(=)" "" "0000003072" "00000408" "50" "121" "-162" "121" "-162" "c.121-162del" "r.(=)" "p.(=)" "" "0000003073" "00000408" "50" "121" "-163" "121" "-162" "c.121-163_121-162del" "r.(=)" "p.(=)" "" "0000007213" "00000408" "50" "9259" "0" "9259" "0" "c.*3850G>C" "r.(=)" "p.(=)" "" "0000007214" "00000408" "50" "3863" "0" "3863" "0" "c.3863A>G" "r.(?)" "p.(Lys1288Arg)" "" "0000007215" "00000408" "50" "3481" "136" "3481" "136" "c.3481+136G>T" "r.(=)" "p.(=)" "" "0000007216" "00000408" "50" "1650" "220" "1650" "220" "c.1650+220A>G" "r.(=)" "p.(=)" "" "0000007217" "00000408" "50" "1128" "-152" "1128" "-152" "c.1128-152T>G" "r.(=)" "p.(=)" "" "0000007218" "00000408" "50" "1087" "-23" "1087" "-23" "c.1087-23G>C" "r.(=)" "p.(=)" "" "0000007219" "00000408" "50" "814" "-167" "814" "-167" "c.814-167G>A" "r.(=)" "p.(=)" "" "0000007220" "00000408" "50" "331" "123" "331" "123" "c.331+123G>A" "r.(=)" "p.(=)" "" "0000009313" "00000408" "50" "9259" "0" "9259" "0" "c.*3850G>C" "r.(=)" "p.(=)" "" "0000009314" "00000408" "50" "3865" "-101" "3865" "-98" "c.3865-101_3865-98del" "r.(=)" "p.(=)" "" "0000009315" "00000408" "50" "3863" "0" "3863" "0" "c.3863A>G" "r.(?)" "p.(Lys1288Arg)" "" "0000009316" "00000408" "50" "3481" "136" "3481" "136" "c.3481+136G>T" "r.(=)" "p.(=)" "" "0000009317" "00000408" "50" "1650" "220" "1650" "220" "c.1650+220A>G" "r.(=)" "p.(=)" "" "0000009318" "00000408" "50" "1087" "-23" "1087" "-23" "c.1087-23G>C" "r.(=)" "p.(=)" "" "0000009319" "00000408" "50" "1087" "-100" "1087" "-100" "c.1087-100dup" "r.(=)" "p.(=)" "" "0000009320" "00000408" "50" "592" "-47" "592" "-45" "c.592-47_592-45dup" "r.(=)" "p.(=)" "" "0000009321" "00000408" "50" "331" "123" "331" "123" "c.331+123G>A" "r.(=)" "p.(=)" "" "0000011054" "00000408" "50" "3865" "-93" "3865" "-92" "c.3865-93_3865-92del" "r.(=)" "p.(=)" "" "0000011055" "00000408" "50" "3865" "-101" "3865" "-96" "c.3865-101_3865-96del" "r.(=)" "p.(=)" "" "0000011056" "00000408" "50" "592" "-47" "592" "-45" "c.592-47_592-45dup" "r.(=)" "p.(=)" "" "0000011057" "00000408" "50" "121" "-162" "121" "-162" "c.121-162del" "r.(=)" "p.(=)" "" "0000011058" "00000408" "50" "121" "-163" "121" "-162" "c.121-163_121-162del" "r.(=)" "p.(=)" "" "0000015193" "00000408" "50" "814" "-167" "814" "-167" "c.814-167G>A" "r.(=)" "p.(=)" "" "0000266336" "00000408" "10" "3863" "0" "3863" "0" "c.3863=" "r.(=)" "p.(Arg1288=)" "" "0000266337" "00000408" "30" "5101" "0" "5101" "0" "c.5101G>A" "r.(?)" "p.(Gly1701Arg)" "" "0000266338" "00000408" "30" "573" "0" "573" "0" "c.573C>T" "r.(?)" "p.(Ser191=)" "" "0000268008" "00000408" "50" "1500" "0" "1500" "0" "c.1500A>C" "r.(?)" "p.(Lys500Asn)" "" "0000268009" "00000408" "70" "4585" "0" "4585" "0" "c.4585C>T" "r.(?)" "p.(Arg1529Ter)" "" "0000269384" "00000408" "30" "2325" "5" "2325" "5" "c.2325+5G>A" "r.spl?" "p.?" "" "0000272166" "00000408" "50" "1085" "0" "1085" "0" "c.1085C>T" "r.(?)" "p.(Thr362Met)" "" "0000272167" "00000408" "30" "1118" "0" "1118" "0" "c.1118A>G" "r.(?)" "p.(Asn373Ser)" "" "0000272168" "00000408" "30" "14" "0" "14" "0" "c.14C>G" "r.(?)" "p.(Pro5Arg)" "" "0000272169" "00000408" "30" "33" "0" "33" "0" "c.33G>A" "r.(?)" "p.(Glu11=)" "" "0000272170" "00000408" "50" "4394" "0" "4394" "0" "c.4394C>G" "r.(?)" "p.(Pro1465Arg)" "" "0000272171" "00000408" "30" "4471" "0" "4471" "0" "c.4471A>G" "r.(?)" "p.(Thr1491Ala)" "" "0000272172" "00000408" "30" "5101" "0" "5101" "0" "c.5101G>A" "r.(?)" "p.(Gly1701Arg)" "" "0000334782" "00000408" "50" "2729" "0" "2729" "0" "c.2729G>C" "r.(?)" "p.(Gly910Ala)" "" "0000338780" "00000408" "70" "591" "1" "591" "1" "c.591+1G>A" "r.spl?" "p.?" "" "0000341931" "00000408" "50" "4339" "0" "4339" "0" "c.4339C>T" "r.(?)" "p.(Arg1447Trp)" "" "0000342069" "00000408" "50" "5174" "0" "5174" "0" "c.5174G>A" "r.(?)" "p.(Arg1725Gln)" "" "0000343496" "00000408" "70" "2800" "0" "2800" "0" "c.2800C>T" "r.(?)" "p.(Arg934Ter)" "" "0000343732" "00000408" "50" "1118" "0" "1118" "0" "c.1118A>G" "r.(?)" "p.(Asn373Ser)" "" "0000345901" "00000408" "50" "67" "0" "67" "0" "c.67G>C" "r.(?)" "p.(Gly23Arg)" "" "0000347046" "00000408" "50" "778" "0" "778" "0" "c.778C>A" "r.(?)" "p.(Leu260Ile)" "" "0000347941" "00000408" "50" "3658" "0" "3658" "0" "c.3658T>C" "r.(?)" "p.(Phe1220Leu)" "" "0000351380" "00000408" "70" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Ter)" "" "0000401003" "00000408" "50" "4786" "0" "4786" "0" "c.4786A>G" "r.(?)" "p.(Lys1596Glu)" "41" "0000401038" "00000408" "50" "946" "0" "946" "0" "c.946dup" "r.(?)" "p.(Arg316Lysfs*22)" "10" "0000577617" "00000408" "50" "5248" "0" "5248" "0" "c.5248A>T" "r.(?)" "p.(Arg1750Ter)" "" "0000577618" "00000408" "50" "5173" "0" "5173" "0" "c.5173C>T" "r.(?)" "p.(Arg1725Ter)" "" "0000577619" "00000408" "30" "5130" "0" "5130" "0" "c.5130G>T" "r.(?)" "p.(Gly1710=)" "" "0000577620" "00000408" "30" "4377" "0" "4377" "0" "c.4377A>G" "r.(?)" "p.(Leu1459=)" "" "0000577621" "00000408" "30" "3482" "-4" "3482" "-4" "c.3482-4G>C" "r.spl?" "p.?" "" "0000577622" "00000408" "50" "3469" "0" "3469" "0" "c.3469C>T" "r.(?)" "p.(Leu1157Phe)" "" "0000577624" "00000408" "50" "3433" "0" "3433" "0" "c.3433G>A" "r.(?)" "p.(Glu1145Lys)" "" "0000577625" "00000408" "50" "3433" "0" "3433" "0" "c.3433G>A" "r.(?)" "p.(Glu1145Lys)" "" "0000577626" "00000408" "90" "3307" "0" "3307" "0" "c.3307G>T" "r.(?)" "p.(Glu1103Ter)" "" "0000577627" "00000408" "30" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Arg699Gln)" "" "0000577628" "00000408" "50" "917" "0" "917" "0" "c.917A>G" "r.(?)" "p.(Asp306Gly)" "" "0000577629" "00000408" "30" "597" "0" "597" "0" "c.597A>C" "r.(?)" "p.(Ser199=)" "" "0000577631" "00000408" "30" "33" "0" "33" "0" "c.33G>A" "r.(?)" "p.(Glu11=)" "" "0000619924" "00000408" "30" "5101" "0" "5101" "0" "c.5101G>A" "r.(?)" "p.(Gly1701Arg)" "" "0000619925" "00000408" "50" "4339" "0" "4339" "0" "c.4339C>T" "r.(?)" "p.(Arg1447Trp)" "" "0000619926" "00000408" "50" "3433" "0" "3433" "0" "c.3433G>A" "r.(?)" "p.(Glu1145Lys)" "" "0000619927" "00000408" "30" "2784" "0" "2784" "0" "c.2784C>A" "r.(?)" "p.(Ile928=)" "" "0000619928" "00000408" "50" "2773" "0" "2773" "0" "c.2773C>T" "r.(?)" "p.(Pro925Ser)" "" "0000619929" "00000408" "30" "2325" "5" "2325" "5" "c.2325+5G>A" "r.spl?" "p.?" "" "0000619930" "00000408" "30" "2151" "0" "2151" "0" "c.2151G>A" "r.(?)" "p.(Arg717=)" "" "0000619931" "00000408" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Ala149Thr)" "" "0000624735" "00000408" "30" "5292" "0" "5292" "0" "c.5292T>A" "r.(?)" "p.(Asp1764Glu)" "" "0000624736" "00000408" "10" "814" "-4" "814" "-4" "c.814-4dup" "r.spl?" "p.?" "" "0000647154" "00000408" "70" "100" "0" "100" "0" "c.100C>T" "r.(?)" "p.(Gln34*)" "" "0000659467" "00000408" "50" "1685" "0" "1685" "0" "c.1685G>A" "r.(?)" "p.(Arg562His)" "" "0000659468" "00000408" "50" "1102" "0" "1102" "0" "c.1102G>C" "r.(?)" "p.(Val368Leu)" "" "0000659469" "00000408" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Gly154Ser)" "" "0000659732" "00000408" "70" "3436" "0" "3436" "0" "c.3436G>T" "r.(?)" "p.(Glu1146*)" "" "0000682673" "00000408" "70" "4655" "-1" "4655" "-1" "c.4655-1G>T" "r.spl?" "p.?" "" "0000682674" "00000408" "30" "1307" "0" "1307" "0" "c.1307C>T" "r.(?)" "p.(Thr436Ile)" "" "0000682675" "00000408" "30" "94" "0" "94" "0" "c.94C>T" "r.(?)" "p.(Leu32=)" "" "0000683299" "00000408" "70" "696" "0" "696" "0" "c.696T>A" "r.(?)" "p.(Tyr232*)" "" "0000683300" "00000408" "70" "3791" "0" "3791" "0" "c.3791del" "r.(?)" "p.(Ser1264Ilefs*13)" "" "0000693762" "00000408" "50" "4339" "0" "4339" "0" "c.4339C>T" "r.(?)" "p.(Arg1447Trp)" "" "0000693763" "00000408" "50" "2165" "0" "2165" "0" "c.2165C>A" "r.(?)" "p.(Thr722Asn)" "" "0000729228" "00000408" "90" "4067" "0" "4067" "0" "c.4067C>A" "r.(?)" "p.(Ser1356Ter)" "" "0000729229" "00000408" "50" "3433" "0" "3433" "0" "c.3433G>A" "r.(?)" "p.(Glu1145Lys)" "" "0000729230" "00000408" "30" "3429" "0" "3429" "0" "c.3429A>G" "r.(?)" "p.(Arg1143=)" "" "0000729231" "00000408" "30" "1758" "0" "1758" "0" "c.1758T>A" "r.(?)" "p.(Pro586=)" "" "0000729232" "00000408" "50" "1118" "0" "1118" "0" "c.1118A>G" "r.(?)" "p.(Asn373Ser)" "" "0000729233" "00000408" "30" "915" "0" "915" "0" "c.915A>G" "r.(?)" "p.(Arg305=)" "" "0000810692" "00000408" "30" "5263" "0" "5263" "0" "c.5263A>C" "r.(?)" "p.(Arg1755=)" "" "0000810693" "00000408" "30" "2604" "0" "2604" "0" "c.2604A>G" "r.(?)" "p.(Leu868=)" "" "0000810694" "00000408" "90" "2187" "0" "2187" "0" "c.2187G>A" "r.(?)" "p.(Trp729*)" "" "0000810695" "00000408" "50" "2044" "4" "2044" "7" "c.2044+4_2044+7del" "r.spl?" "p.?" "" "0000810696" "00000408" "30" "1131" "0" "1131" "0" "c.1131A>G" "r.(?)" "p.(Leu377=)" "" "0000810697" "00000408" "30" "348" "0" "348" "0" "c.348A>G" "r.(?)" "p.(Leu116=)" "" "0000856815" "00000408" "50" "5180" "0" "5180" "0" "c.5180G>A" "r.(?)" "p.(Arg1727His)" "" "0000856816" "00000408" "30" "3366" "0" "3366" "0" "c.3366C>T" "r.(?)" "p.(Ser1122=)" "" "0000856817" "00000408" "30" "2542" "0" "2542" "0" "c.2542A>G" "r.(?)" "p.(Ser848Gly)" "" "0000856818" "00000408" "50" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Arg699Gln)" "" "0000856819" "00000408" "70" "1086" "0" "1086" "0" "c.1086G>C" "r.(?)" "p.(Thr362=)" "" "0000856820" "00000408" "30" "769" "0" "769" "0" "c.769G>A" "r.(?)" "p.(Val257Ile)" "" "0000867586" "00000408" "30" "5130" "0" "5130" "0" "c.5130G>T" "r.(?)" "p.(Gly1710=)" "" "0000867587" "00000408" "50" "4346" "0" "4346" "0" "c.4346G>T" "r.(?)" "p.(Arg1449Ile)" "" "0000867588" "00000408" "50" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Arg699Gln)" "" "0000896380" "00000408" "30" "3425" "0" "3425" "0" "c.3425C>T" "r.(?)" "p.(Ser1142Phe)" "" "0000915769" "00000408" "50" "3294" "0" "3294" "0" "c.3294C>G" "r.(?)" "p.(Ser1098Arg)" "" "0000915770" "00000408" "50" "2146" "0" "2146" "0" "c.2146C>T" "r.(?)" "p.(Pro716Ser)" "" "0000927427" "00000408" "50" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Glu313Lys)" "" "0000931469" "00000408" "70" "3807" "0" "3807" "0" "c.3807G>T" "r.(?)" "p.(Glu1269Asp)" "" "0000931470" "00000408" "50" "2233" "0" "2233" "0" "c.2233G>A" "r.(?)" "p.(Val745Ile)" "" "0000939896" "00000408" "70" "2801" "0" "2801" "0" "c.2801G>C" "r.(?)" "p.(Arg934Pro)" "24" "0000971365" "00000408" "10" "814" "-4" "814" "-4" "c.814-4dup" "r.spl?" "p.?" "" "0000984872" "00000408" "90" "3863" "0" "3863" "0" "c.3863del" "r.(?)" "p.(Lys1288Argfs*11)" "" "0000984873" "00000408" "50" "1589" "0" "1589" "0" "c.1589G>T" "r.(?)" "p.(Cys530Phe)" "" "0000984874" "00000408" "30" "813" "10" "813" "10" "c.813+10G>C" "r.(=)" "p.(=)" "" "0000984875" "00000408" "50" "637" "0" "637" "0" "c.637C>T" "r.(?)" "p.(Arg213Cys)" "" "0000985305" "00000408" "90" "3325" "1" "3325" "1" "c.3325+1G>T" "r.3264_3325del" "p.Trp1089Cysfs*5" "29i" "0000985306" "00000408" "90" "946" "0" "946" "0" "c.946dup" "r.(?)" "p.(Arg316Lysfs*22)" "" "0000985307" "00000408" "70" "4786" "0" "4786" "0" "c.4786A>G" "r.(?)" "p.(Lys1596Glu)" "" "0000985308" "00000408" "90" "3976" "0" "3976" "0" "c.3976C>T" "r.(?)" "p.(Arg1326*)" "" "0000985309" "00000408" "70" "3413" "0" "3413" "0" "c.3413G>T" "r.(?)" "p.(Trp1138Leu)" "" "0000985310" "00000408" "90" "1127" "1" "1127" "1" "c.1127+1G>A" "r.spl" "p.?" "11i" "0000985311" "00000408" "90" "5080" "0" "5080" "0" "c.5080C>T" "r.(?)" "p.(Arg1694*)" "" "0000985315" "00000408" "90" "0" "0" "0" "0" "c.986-72_*7121{0}" "r.?" "p.?" "10i_41_" "0000985316" "00000408" "90" "3393" "0" "3393" "0" "c.3393C>G" "r.(?)" "p.(Tyr1131*)" "" "0000985319" "00000408" "90" "3393" "0" "3393" "0" "c.3393C>G" "r.(?)" "p.(Tyr1131*)" "" "0000985321" "00000408" "90" "3393" "0" "3393" "0" "c.3393C>G" "r.(?)" "p.(Tyr1131*)" "" "0000985323" "00000408" "90" "3393" "0" "3393" "0" "c.3393C>G" "r.(?)" "p.(Tyr1131*)" "" "0000985789" "00000408" "90" "568" "0" "568" "0" "c.568C>T" "r.(?)" "p.(Arg190Ter)" "" "0000985790" "00000408" "90" "696" "0" "696" "0" "c.696T>A" "r.(?)" "p.(Tyr232Ter)" "" "0000985791" "00000408" "70" "447" "0" "451" "0" "c.447_451del" "r.(?)" "p.(Arg150IlefsTer5)" "" "0000985792" "00000408" "70" "2062" "0" "2064" "0" "c.2062_2064delinsCCAT" "r.(?)" "p.(Met688ProfsTer2)" "" "0000985793" "00000408" "90" "2312" "0" "2312" "0" "c.2312dup" "r.(?)" "p.(Tyr771Ter)" "" "0000985794" "00000408" "90" "3602" "1" "3602" "1" "c.3602+1G>A" "r.spl" "p.?" "" "0000985795" "00000408" "90" "451" "0" "451" "0" "c.451C>T" "r.(?)" "p.(Gln151Ter)" "" "0001006986" "00000408" "50" "4390" "0" "4390" "0" "c.4390G>A" "r.(?)" "p.(Ala1464Thr)" "" "0001006987" "00000408" "70" "2801" "0" "2804" "0" "c.2801_2804dup" "r.(?)" "p.(Ser936Thrfs*11)" "" "0001006988" "00000408" "50" "85" "0" "85" "0" "c.85G>T" "r.(?)" "p.(Ala29Ser)" "" "0001011368" "00000408" "50" "3413" "0" "3413" "0" "c.3413G>C" "r.(?)" "p.(Trp1138Ser)" "" "0001019464" "00000408" "70" "4186" "0" "4186" "0" "c.4186del" "r.?" "p.(Gln1396Lysfs*20)" "37" "0001027536" "00000408" "50" "4352" "0" "4352" "0" "c.4352G>A" "r.(?)" "p.(Arg1451His)" "" "0001027537" "00000408" "50" "2721" "0" "2721" "0" "c.2721G>T" "r.(?)" "p.(Lys907Asn)" "" "0001027538" "00000408" "90" "1273" "0" "1273" "0" "c.1273A>T" "r.(?)" "p.(Lys425*)" "" "0001029999" "00000408" "70" "3413" "0" "3413" "0" "c.3413G>C" "r.(?)" "p.(Trp1138Ser)" "" "0001044525" "00000408" "50" "3994" "0" "3996" "0" "c.3994_3996del" "r.(?)" "p.(Leu1332del)" "" "0001044526" "00000408" "30" "3591" "0" "3591" "0" "c.3591T>A" "r.(?)" "p.(Asn1197Lys)" "" "0001044527" "00000408" "50" "2515" "0" "2515" "0" "c.2515G>T" "r.(?)" "p.(Asp839Tyr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 55 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002035" "0000000209" "0000002036" "0000000209" "0000003071" "0000000209" "0000003072" "0000000209" "0000003073" "0000000209" "0000007213" "0000000209" "0000007214" "0000000209" "0000007215" "0000000209" "0000007216" "0000000209" "0000007217" "0000000209" "0000007218" "0000000209" "0000007219" "0000000209" "0000007220" "0000000210" "0000009313" "0000000210" "0000009314" "0000000210" "0000009315" "0000000210" "0000009316" "0000000210" "0000009317" "0000000210" "0000009318" "0000000210" "0000009319" "0000000210" "0000009320" "0000000210" "0000009321" "0000000210" "0000011054" "0000000210" "0000011055" "0000000210" "0000011056" "0000000210" "0000011057" "0000000210" "0000011058" "0000000210" "0000015193" "0000174429" "0000401003" "0000174511" "0000401038" "0000290482" "0000647154" "0000297116" "0000659732" "0000308865" "0000683299" "0000308866" "0000683300" "0000441954" "0000939896" "0000451425" "0000985305" "0000451426" "0000985306" "0000451427" "0000985307" "0000451428" "0000985308" "0000451429" "0000985309" "0000451430" "0000985310" "0000451431" "0000985311" "0000451432" "0000985315" "0000451433" "0000985316" "0000451434" "0000985319" "0000451435" "0000985321" "0000451436" "0000985323" "0000451872" "0000985789" "0000451873" "0000985790" "0000451874" "0000985791" "0000451875" "0000985792" "0000451876" "0000985793" "0000451877" "0000985794" "0000451878" "0000985795" "0000460458" "0001019464"