### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DONSON) # 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}}" "DONSON" "downstream neighbor of SON" "21" "q22.1" "unknown" "NC_000021.8" "UD_136086641586" "" "https://www.LOVD.nl/DONSON" "" "1" "2993" "29980" "611428" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/DONSON_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-03-06 19:56:47" "00000" "2024-10-29 21:08:56" ## 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}}" "00006635" "DONSON" "downstream neighbor of SON" "001" "NM_017613.3" "" "NP_060083.1" "" "" "" "-67" "2457" "1701" "34961014" "34949857" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05347" "MISSLA" "microcephaly, short stature, limb abnormalities (MISSLA)" "AR" "617604" "" "" "autosomal recessive" "00006" "2017-11-17 14:46:08" "00006" "2021-12-10 21:51:32" "05348" "MIMIS" "microcephaly-micromelia syndrome (MIMIS)" "AR" "251230" "" "" "autosomal recessive" "00006" "2017-11-17 14:47:27" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DONSON" "05347" "DONSON" "05348" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{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}}" "00100641" "" "" "" "2" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 2 affecteds (2F), unaffected heterozygous carrier parents (father not available)" "F" "no" "Italy" "" "0" "" "" "European" "28191891-P1-1" "00100643" "" "" "00100641" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "F" "no" "Italy" "" "0" "" "" "European" "28191891-P1-2" "00100659" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1M), unaffected heterozygous carrier parents" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "European" "28191891-P2" "00100660" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1F), unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "European" "28191891-P3" "00100780" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "1 affected, no parental samples available" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "European" "28191891-P4" "00100781" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1F), unaffected heterozygous carrier parents" "F" "no" "Somalia" "" "0" "" "" "Somali" "28191891-P5" "00100782" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1M), unaffected heterozygous carrier parents" "M" "no" "United States" "" "0" "" "" "European" "28191891-P6" "00100933" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United States" "" "0" "" "" "European" "28191891-P7" "00100934" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1F), unaffected heterozygous carrier parents" "F" "no" "Italy" "" "0" "" "" "" "28191891-P8" "00100935" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1M), unaffected heterozygous carrier parents (father not available)" "M" "no" "Turkey" "" "0" "" "" "" "28191891-P9" "00100936" "" "" "" "2" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 2 affecteds (F, M), unaffected heterozygous carrier parents" "F" "no" "India" "" "0" "" "" "" "28191891-P10-1" "00100937" "" "" "00100936" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "M" "no" "India" "" "0" "" "" "" "28191891-P10-2" "00100938" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1M), unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Middle eastern (Saudi)" "28191891-P11" "00100939" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1F), unaffected heterozygous carrier parents (no parental samples available)" "F" "yes" "Saudi Arabia" "" "0" "" "" "Middle eastern (Saudi)" "28191891-P12" "00101211" "" "" "" "3" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents" "F" "yes" "Palestine" "" "0" "" "" "Middle eastern (Palestinian)" "28191891-P13-1" "00101212" "" "" "00101211" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "F" "yes" "Palestine" "" "0" "" "" "Middle eastern (Palestinian)" "28191891-P13-2" "00101213" "" "" "00101211" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "M" "yes" "Palestine" "" "0" "" "" "Middle eastern (Palestinian)" "28191891-P13-3" "00101214" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1M), unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Middle eastern (Saudi)" "28191891-P14" "00101215" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1M), unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Middle eastern (Saudi)" "28191891-P15" "00101216" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1M), unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Middle eastern (Saudi)" "28191891-P16" "00101217" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1M), unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "" "0" "" "" "Middle eastern (Saudi)" "28191891-P17" "00101218" "" "" "" "3" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents" "F" "yes" "Saudi Arabia" "" "0" "" "" "Middle eastern (Saudi)" "28191891-P18-1" "00101219" "" "" "00101218" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "M" "yes" "Saudi Arabia" "" "0" "" "" "Middle eastern (Saudi)" "28191891-P18-2" "00101220" "" "" "00101218" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "F" "yes" "Saudi Arabia" "" "0" "" "" "Middle eastern (Saudi)" "28191891-P18-3" "00101221" "" "" "" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 1 affected (1M), unaffected heterozygous carrier parents" "M" "no" "Turkey" "" "0" "" "" "Turkish" "28191891-P19" "00101222" "" "" "" "2" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "2 generation family, 2 affecteds (2M), unaffected heterozygous carrier parents" "M" "no" "South Africa" "" "0" "" "" "" "28191891-P20-1" "00101223" "" "" "00100322" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "M" "no" "South Africa" "" "0" "" "" "" "28191891-P20-2" "00101224" "" "" "" "3" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "4 generation family, 3 affecteds (2F, 1M), unaffected heterozygous carrier parents" "M" "yes" "Saudi Arabia" "00y00m00d" "0" "" "" "Middle eastern (Saudi)" "28191891-P21-1" "00101225" "" "" "00101224" "1" "" "01924" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "F" "yes" "Saudi Arabia" "00y00m00d" "0" "" "" "Middle eastern (Saudi)" "28191891-P21-2" "00133271" "" "" "" "2" "" "02313" "" "2 generation family, 2 affecteds (2F), 4 unaffecteds (3M, 1F)" "F" "no" "Germany" "" "0" "" "" "European" "" "00134048" "" "" "00133271" "1" "" "02313" "" "2 generation family, 2 affecteds (2F), 4 unaffecteds (3M, 1F)" "F" "no" "Germany" "" "0" "" "" "European" "" "00207473" "" "" "" "2" "" "02313" "" "" "F" "no" "Germany" "" "0" "" "" "" "" "00433154" "" "" "" "1" "" "01164" "" "" "F" "?" "Syria" "" "0" "" "" "" "199808" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 33 "{{individualid}}" "{{diseaseid}}" "00100641" "00198" "00100643" "00198" "00100659" "00198" "00100660" "00198" "00100780" "00198" "00100781" "00198" "00100782" "00198" "00100933" "00198" "00100934" "00198" "00100935" "00198" "00100936" "00198" "00100937" "00198" "00100938" "00198" "00100939" "00198" "00101211" "00198" "00101212" "00198" "00101213" "00198" "00101214" "00198" "00101215" "00198" "00101216" "00198" "00101217" "00198" "00101218" "00198" "00101219" "00198" "00101220" "00198" "00101221" "00198" "00101222" "00198" "00101223" "00198" "00101224" "00198" "00101225" "00198" "00133271" "05348" "00134048" "05347" "00207473" "05347" "00433154" "05347" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05347, 05348 ## Count = 31 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000078871" "00198" "00100641" "01924" "Familial, autosomal recessive" "00y18m" "microcephalic primordial dwarfism; birth 36w, weight 2000g (-1.6), length 43cm (-2.2), OFC 29 cm (-2.5); 18m length 73cm (-2.4), OFC 38.5 cm (-7.8), mild language delay (HP:0000750), early closure of metopic suture (HP:0005556), mild bilateral blepharophymosis (HP:0000581), mild aneurysm of atrial septum (HP:0011995), patent foramen ovale (HP:0001655)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000078883" "00198" "00100643" "01924" "Familial, autosomal recessive" "15y" "microcephalic primordial dwarfism; birth 40w, weight 2300g (-2.6), length 47cm (-1.7), OFC 30 cm (-3.7); 15y length 155cm (-1.2), OFC 47.5 cm (-5.6); delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209) & brachydactyly (HP:0009237), short middle phalanx (HP:0004220)" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000078884" "04086" "00100659" "01924" "Familial, autosomal recessive" "07y02m" "microcephalic primordial dwarfism; birth 40w, weight 2700g (-1.8), OFC 0.4th centile; 7y2m, weight 14.24kg (-4.6), length 105.6cm (-3.3), OFC 42.4 cm (-6.5).\r\n\r\nMild to moderate developmental delay (HP:0001263), Delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209) & brachydactyly (HP:0009237) No active movement in 1st Interphalangeal Joints (IPJ), Tremor (HP:0001337), (1.6Mb Xp22.31 dup on arrayCGH), blepharophymosis, broad nasal bridge (HP:0000431), cupped ears (HP:0000378), tall forehead(HP:0000348), short tapering fingers (HP:0001182)" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000078885" "00198" "00100660" "01924" "Familial, autosomal recessive" "11y01m" "microcephalic primordial dwarfism; birth 40w, weight 2330g (-2.49), length 43cm (-2.2), OFC 29 cm (-2.5); 11y1m length 120.3cm (-3.5), weight 21.4kg.\r\n\r\nMild developmental delay (HP:0001263), Delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209), 2/3 toe syndactyly (HP:0004691), ANA+ve arthritis" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000078997" "00198" "00100780" "01924" "Familial, autosomal recessive" "05y01m" "microcephalic primordial dwarfism; birth 37w, weight 3210g (-1.1), length 48cm (-2.0), OFC 27.5cm (-4.2); 5y1m weight 18.4kg (0.0), length 101.5cm (-1.7), OFC 43.5 cm (-6.9), mild to moderate developmental delay (HP:0001263), ADHD (HP:0007018)" "" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079153" "00198" "00100933" "01924" "Familial, autosomal recessive" "03y03m" "microcephalic primordial dwarfism: \r\nbirth NA, weight 3710g (-5.0), OFC 31.75cm (-9.0), Length 55.88cm (-3.5); 3y3m weight 8.6kg (-5.1), OFC 38.9cm (-9.7), Length 82cm (-3.9).\r\n\r\nMesomelia(HP:0003027)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079154" "00198" "00100935" "01924" "Familial, autosomal recessive" "12y06m" "Microcephalic Primordial Dwarfism; birth Term, weight NA, OFC NA, length “short”; 12y6m, weight 27.5kg (-2.5), OFC 46.5cm (-5.4), length 130cm (-2.8).\r\n\r\nNormal development, 5th finger clinodactyly (HP:0004209), 5th toe brachydactyly (HP:0011917) and broad, bilateral hypoplastic patellae with subluxation (HP:0010499).\r\nBilateral oedema on eyelids (HP:0100540), hypoplastic ear lobule (HP:0008551), thin eyebrows (HP:0000535) , broad nasal bridge (HP:0000431), pointed chin (HP:0000307); MRI asymmetric right lateral ventricle (HP:0100960)." "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079155" "00198" "00100936" "01924" "Familial, autosomal recessive" "08y" "Microcephalic Primordial Dwarfism; birth 32w, weight 1800g (0.2), OFC NA, length NA; 8y weight NA, OFC 43cm (-8.2), length 110.5cm (-2.9).\r\n\r\nMild development (HP:0011342), Delayed bone age (HP:0002750), 5th finger clinodactyly (HP:0004209), genu valgum (HP:0002857), Hypoplastic teeth(HP:0000685)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079156" "00198" "00100937" "01924" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079160" "00198" "00100781" "01924" "Familial, autosomal recessive" "09y09m" "microcephalic primordial dwarfism; birth 40w, weight 2380g (-2.4), length 47cm (-1.7), OFC 31 (-2.9); 9y9m length 126.5 (-1.7),weight 23.8kg (-1.7), OFC 43.5 (-8.1), \r\nMild speech delay (HP:0011346), Delayed bone age (HP:0002750), marked posterior lateral subluxation of L elbow, 5th finger camptodactyly (HP:0004209), short middle phalanx (HP:0004220), GORD (HP:0002020), lumbar lordosis (HP:0002938), pes planus (HP:0001763), simplified gyral pattern (MRI) (HP:0009879)" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000079161" "00198" "00100782" "01924" "Familial, autosomal recessive" "11y" "microcephalic primordial dwarfism; birth 39w, weight 2580g (-1.7), OFC 22.86cm (-9.2), Length 45.72cm (-2.3); 11y OFC 42.9cm (-7.4), Length 127.7cm (-2.4).\r\n\r\nMild (HP:0011342), Mesomelia(HP:0003027), Seizures (HP:0001250) in early childhood, laryngotracheomalacia(HP:0008755) & aspiration(HP:0002835) as infant, dental crowding(HP:0000678), astigmatism(HP:0000483), GORD(HP:0002020)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079457" "00198" "00100934" "01924" "Familial, autosomal recessive" "02y10m" "microcephalic primordial dwarfism; birth 39w, weight 2350g (-2.21), OFC 29.5cm (-4.0), Length 45cm (-2.6); 2y10m weight 9.3kg (-4.1), OFC 42cm (-6.7), length 87cm (-2.0).\r\n\r\nMild developmental delay (HP:0011342)\r\n\r\nMild" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079458" "00198" "00100938" "01924" "Familial, autosomal recessive" "00y10m" "Microcephalic Primordial Dwarfism; birth NA, weight 3200g (-0.7), OFC NA, length NA; 10m weight NA, OFC 36cm (-9.2), length 67cm (-2.5).\r\n\r\nCleft palate (HP:0000175)" "00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000079459" "00198" "00100939" "01924" "Familial, autosomal recessive" "13y06m" "Microcephalic Primordial Dwarfism; birth NA, weight NA, OFC NA, length NA; 13y6m weight 25.9kg (-4.0), OFC 40.5cm (-10.7), length 130.5 (-4.0).\r\n\r\nModerate development (HP:0011343), Absent patella (HP:0006443), R radial head and humerus synostosis (HP:0002974), 5th finger brachydactyly (HP:0001156), short middle phalanx (HP:0004220), carpal bones synostosis (HP:0005048) and hypoplasia (HP:0006502)." "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079460" "00198" "00101211" "01924" "Familial, autosomal recessive" "07y11m" "Microcephalic Primordial Dwarfism; birth 40w, weight 3000-3200g (-0.9 to -0.5), OFC 32cm (-1.4), length 50cm (-1.0); 7y11m weight NA, OFC 48cm (-4.1), length 113cm (-2.5).\r\n\r\nNormal development, Elbow dysplasia (HP:0009811), hypoplastic proximal ulna (HP:0010601), radial head dislocation(HP:0003083), dysplastic thumbs(HP:0009601), Hypopigmented ‘rain drop’ rash(HP:0001053). No haematological abnormalities. FA testing negative (DEB/MMC)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079461" "00198" "00101212" "01924" "Familial, autosomal recessive" "05y05m" "Microcephalic Primordial Dwarfism; birth 40w, weight 3000-3200g (-0.9 to -0.5), OFC 32cm (-2.1), length 46cm (-2.3); 5y5m weight NA, OFC 46cm (-4.9), length 93cm (-4.0).\r\n\r\nNormal development, Elbow dysplasia(HP:0009811), radial head dislocation(HP:0003083), hypoplasia of 1st metacarpal & phalanges(HP:0006070), No haematological abnormalities. FA testing negative" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079462" "00198" "00101213" "01924" "Familial, autosomal recessive" "01y07m" "Microcephalic Primordial Dwarfism; birth 40w, weight 3000-3200g (-1.2 to -0.7), OFC 50th centile, length 3rd centile; 1y7m weight NA, OFC 46cm (-2.7), length 78cm (-1.6).\r\n\r\nNormal development, Genu vara(HP:0002970), Hypopigmented ‘rain drop’ rash (HP:0001053). Iron deficiency anemia (HP:0001891), normal FA testing." "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079463" "00198" "00101214" "01924" "Familial, autosomal recessive" "02y11m" "Microcephalic Primordial Dwarfism; birth 40w, weight NA, OFC NA, length NA; 2y11m weight 8kg (-5.8), OFC 38cm (-9.6), length 84.5cm (-2.9).\r\n\r\nModerate development, hyperactive (HP:0000752) short attention span (HP:0000736), aggressive (HP:0000718), frequent tantrums(HP:0025161).Ridge skull sutures(HP:0001363), Closed anterior fontanelle (HP:0005458), hooked nose(HP:0000444), narrow palpebral fissure(HP:0000581), bilateral epicanthic folds(HP:0000286), cleft palate(HP:0000175), mild hypotonia(HP:0001290)." "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079464" "00198" "00101215" "01924" "Familial, autosomal recessive" "02y07m" "Microcephalic Primordial Dwarfism; birth Na, weight 1590g (-4.4), OFC 27cm (-6.4), length 40cm (-5.5); 2y7m weight 8.35 kg(-4.8), OFC 36.5cm (-10.6), length 75cm (-5.0).\r\n\r\nID, ADHD(HP:0000752)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079465" "00198" "00101216" "01924" "Familial, autosomal recessive" "00y08m" "Microcephalic Primordial Dwarfism; birth NA, weight NA, OFC NA, length NA; 8m weight 4.3kg(-6.5), OFC 32cm (-11.8), length 51cm (-8.4).\r\n\r\nHigh pitched voice(HP:0001620)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079466" "00198" "00101217" "01924" "Familial, autosomal recessive" "" "Microcephalic Primordial Dwarfism; birth NA, weight 1900g (-3.6), OFC 27cm (-6.4), length 46cm (-2.5).\r\n\r\n11 pairs of ribs (HP:0000878), delayed bone age(HP:0002750), elbow flexion contracture(HP:0002987), fifth finger clinodactyly(HP:0004209), Small anterior fontanelle(HP:0000237), sloping forehead(HP:0000340), micrognathia(HP:0000347), low-set (HP:0000369)and malformed ears(HP:0000377), prominent and beaked nose(HP:0003683), pes planus(HP:0001763), abnormal finger flexion creases(HP:0006143)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079467" "00198" "00101218" "01924" "Familial, autosomal recessive" "15y" "Microcephalic Primordial Dwarfism; birth NA, weight 2050g (-3.2), OFC 27.5cm (-5.7), length 44cm (-3.3); 15y weight 27.55kg (5.0), OFC 43.5cm (-8.6), length 134.6 cm(-4.4).\r\n\r\nMild development(HP:0011342), Beaked nose(HP:0000444), upslanting palpebral fissures(HP:0000582), epicanthic folds(HP:0000286), posteriorly rotated ears(HP:0000358), bushy eyebrows(HP:0000574), growth hormone has increased height (5cm in 18 months)." "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079468" "00198" "00101219" "01924" "Familial, autosomal recessive" "11y" "Microcephalic Primordial Dwarfism; birth NA, weight 2430g (-2.4), OFC 29cm(-4.9), length 43cm (-4.0); 11y weight 16.85kg (-6.2), OFC 41.5cm (-8.2), length 122.5 cm(-3.1).\r\n\r\nMild development(HP:0011342), Beaked nose(HP:0000444), upslanting palpebral fissures(HP:0000582), epicanthic folds(HP:0000286), posteriorly rotated ears(HP:0000358), nephrotic syndrome(HP:0000100), growth hormone has increased height (3cm in 5 months)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079469" "00198" "00101220" "01924" "Familial, autosomal recessive" "08y" "Microcephalic Primordial Dwarfism; birth NA, weight 2245g (-2.7), OFC 29cm (-4.5), length 47cm (-1.7); 8y weight 13.85kg (-5.0), OFC 40.5cm (-10.3), length 110.8 cm(-3.0).\r\n\r\nMild development(HP:0011342), Beaked nose(HP:0000444), upslanting palpebral fissures(HP:0000582), epicanthic folds(HP:0000286), posteriorly rotated ears(HP:0000358), nephrotic syndrome(HP:0000100), retrognathia (HP:0000278)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079470" "00198" "00101221" "01924" "Familial, autosomal recessive" "08y04m" "Microcephalic Primordial Dwarfism; birth 36w, weight 2200g (-1.3), OFC 32cm (-0.6), length 44cm (-1.9); 8y4m weight 25.5kg (-0.2), OFC 50.2cm (-2.4), 111cm (-3.3).\r\n\r\nNormal development, delayed early speech (HP:0002474), Bilateral hypoplasia of radius and thumb, bilateral symphalangism PIPII and IV(HP:0009773), and pronounced brachymesophalangia II and V, left proximal radio-ulnar synostosis(HP:0003938), Neutropenia(HP:0001875), FA testing negative, Mild genital hypoplasia (HP:0003241), Small external ears (HP:0008551)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079471" "00198" "00101222" "01924" "Familial, autosomal recessive" "14y08m" "Microcephalic Primordial Dwarfism; birt 40w, weight 1900g (-3.6), OFC 27.5cm (-6.1), length NA; 14y8m weight 22kg (-5.5), OFC 43.7cm (-7.4), length 132cm (-4.2).\r\n\r\nID, Short 5th metacarpal(HP:0005914), clinodactyly(HP:0004209), 2-3 toe syndactyly(HP:0001233), absent patella (HP:0006443), joint laxity(HP:0001388), Flat nasal bridge(HP:0005280), microtia(HP:0008551) with absent lobules, micrognathia(HP:0000347), pigmented palmar creases(HP:0010490), cryptorchidism(HP:0000028)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079472" "00198" "00101224" "01924" "Familial, autosomal recessive" "00y00m00d" "Microcephalic Primordial Dwarfism; birth 30w, weight 800g (-2.8), OFC 17.49cm (-8.5), length NA.\r\n\r\nNarrow chest(HP:0000774), absent ulna(HP:0003982) and radius(HP:0003974), hypoplastic femur(HP:0011428) and tibia(HP:0005772), severe talipes(HP:0001883), Intrauterine fetal death, oligohydramnios(HP:0001562), severe cystic hygroma(HP:0000476), dilated ventricles(HP:0002119), severe micrognathia(HP:0000347), low-set ears(HP:0000369), microphthalmia(HP:0000568)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000079473" "00198" "00101225" "01924" "Familial, autosomal recessive" "00y00m00d" "Microcephalic Primordial Dwarfism; birth 20w, weight NA, OFC 9.81cm (-7.8), length NA.\r\n\r\nNarrow chest(HP:0000774), upper limbs replaced with stubs(HP:0001467) with no clear digits, hypoplastic femur(HP:0011428) and tibia(HP:0005772), severe talipes(HP:0001883), Intrauterine fetal death, oligohydramnios(HP:0001562), severe cystic hygroma(HP:0000476), dilated ventricles(HP:0002119), severe micrognathia(HP:0000347), low-set ears(HP:0000369), microphthalmia(HP:0000568)" "00y00m00d" "" "" "" "" "" "" "" "" "microcephalic primordial dwarfism" "" "0000106786" "00198" "00133271" "02313" "Familial, autosomal recessive" "" "microcephaly\r\nradial aplasia" "" "" "" "" "" "" "" "" "MISSLA" "Fanconi Anaemia" "" "0000155251" "05347" "00207473" "02313" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000323700" "05347" "00433154" "01164" "Unknown" "11y" "Microcephaly, Neurodevelopmental abnormality, Migraine without aura, Abnormal cortical gyration, Hypotonia, Decreased body mass index, Subcortical heterotopia, Intellectual disability, Delayed speech and language development" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000101057" "00100641" "1" "01924" "01924" "2017-03-07 13:41:23" "01924" "2017-03-14 09:52:36" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101083" "00100659" "1" "01924" "01924" "2017-03-09 15:04:02" "01924" "2017-03-14 15:32:22" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101084" "00100660" "1" "01924" "01924" "2017-03-09 16:12:02" "00006" "2017-03-21 21:01:48" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101204" "00100780" "1" "01924" "01924" "2017-03-09 16:25:11" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood, Saliva samples" "" "0000101205" "00100781" "1" "01924" "01924" "2017-03-09 16:34:17" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood, Saliva samples" "" "0000101206" "00100782" "1" "01924" "01924" "2017-03-09 16:47:00" "01924" "2017-03-16 15:22:58" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101355" "00100643" "1" "01924" "01924" "2017-03-13 14:24:50" "01924" "2017-03-14 13:44:59" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101356" "00100933" "1" "01924" "01924" "2017-03-13 14:54:22" "01924" "2017-03-17 11:08:32" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101358" "00100934" "1" "01924" "01924" "2017-03-13 15:51:49" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood, Saliva samples" "" "0000101359" "00100935" "1" "01924" "01924" "2017-03-13 16:04:10" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood, Saliva samples" "" "0000101360" "00100936" "1" "01924" "01924" "2017-03-13 16:37:50" "" "" "SEQ;SEQ-NG" "DNA" "Peripheral Blood, Saliva samples" "" "0000101361" "00100937" "1" "01924" "01924" "2017-03-13 16:45:21" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000101634" "00100938" "1" "01924" "01924" "2017-03-20 15:20:08" "00006" "2017-03-21 16:30:11" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101635" "00100939" "1" "01924" "01924" "2017-03-20 16:34:51" "00006" "2017-03-21 16:34:29" "RT-PCR;SEQ" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101636" "00101211" "1" "01924" "01924" "2017-03-20 17:04:29" "00006" "2017-03-21 16:30:11" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101637" "00101212" "1" "01924" "01924" "2017-03-20 18:35:45" "00006" "2017-03-21 16:30:11" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101638" "00101213" "1" "01924" "01924" "2017-03-20 18:58:54" "00006" "2017-03-21 16:30:11" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101639" "00101214" "1" "01924" "01924" "2017-03-20 20:11:09" "00006" "2017-03-21 16:30:11" "SBE" "DNA" "Peripheral Blood, Saliva samples" "" "0000101640" "00101215" "1" "01924" "01924" "2017-03-20 20:55:11" "00006" "2017-03-21 16:30:11" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101641" "00101216" "1" "01924" "01924" "2017-03-20 23:19:48" "00006" "2017-03-21 16:30:11" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101642" "00101217" "1" "01924" "01924" "2017-03-20 23:31:36" "00006" "2017-03-21 16:30:11" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101643" "00101218" "1" "01924" "01924" "2017-03-20 23:57:55" "00006" "2017-03-21 16:30:11" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101644" "00101219" "1" "01924" "01924" "2017-03-21 00:10:57" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101645" "00101220" "1" "01924" "01924" "2017-03-21 00:22:14" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101646" "00101221" "1" "01924" "01924" "2017-03-21 00:32:41" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101647" "00101222" "1" "01924" "01924" "2017-03-21 10:53:50" "00006" "2017-03-21 16:52:01" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101648" "00101223" "1" "01924" "01924" "2017-03-21 12:02:00" "00006" "2017-03-21 16:53:22" "SEQ" "DNA" "Peripheral Blood, Saliva samples" "" "0000101649" "00101224" "1" "01924" "01924" "2017-03-21 12:16:11" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000101650" "00101225" "1" "01924" "01924" "2017-03-21 12:40:58" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "Peripheral Blood, Saliva samples" "" "0000134108" "00133271" "1" "02313" "02313" "2017-11-15 15:25:01" "" "" "SEQ-NG-I" "DNA" "Lymphocyte DNA" "WES" "0000134888" "00134048" "1" "02313" "02313" "2017-11-20 16:49:41" "" "" "SEQ" "DNA" "Lymphocyte DNA" "" "0000208510" "00207473" "1" "02313" "02313" "2018-11-23 12:11:54" "" "" "SEQ" "DNA" "blood lymphocyte" "specific gene test (only DONSON)" "0000434605" "00433154" "1" "01164" "01164" "2023-03-01 17:14:46" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000101057" "DONSON" "0000101083" "DONSON" "0000101084" "DONSON" "0000101204" "DONSON" "0000101205" "DONSON" "0000101206" "DONSON" "0000101355" "DONSON" "0000101356" "DONSON" "0000101358" "DONSON" "0000101359" "DONSON" "0000101360" "DONSON" "0000101361" "DONSON" "0000101634" "DONSON" "0000101635" "DONSON" "0000101636" "DONSON" "0000101637" "DONSON" "0000101638" "DONSON" "0000101639" "DONSON" "0000101640" "DONSON" "0000101641" "DONSON" "0000101642" "DONSON" "0000101643" "DONSON" "0000101644" "DONSON" "0000101645" "DONSON" "0000101646" "DONSON" "0000101647" "DONSON" "0000101648" "DONSON" "0000101649" "DONSON" "0000101650" "DONSON" "0000134888" "DONSON" "0000208510" "DONSON" "0000434605" "DONSON" ## 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 = 100 "{{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}}" "0000163507" "21" "90" "21" "34953705" "34953710" "del" "0" "01924" "DONSON_000001" "g.34953705_34953710del" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "1251_1256delCTCTAA" "" "Germline" "yes" "" "0" "" "" "g.33581399_33581404del" "" "pathogenic" "" "0000163587" "21" "90" "21" "34955881" "34955881" "subst" "1.62443E-5" "01924" "DONSON_000020" "g.34955881G>A" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "c.877C>T" "" "Germline" "yes" "" "0" "" "" "g.33583575G>A" "" "pathogenic" "" "0000163588" "21" "90" "21" "34953704" "34953704" "dup" "0" "01924" "DONSON_000014" "g.34953704dup" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "c.1254dupT" "" "Germline" "yes" "" "0" "" "" "g.33581398dup" "" "pathogenic" "" "0000163708" "1" "90" "21" "34950628" "34950628" "dup" "0" "01924" "DONSON_000015" "g.34950628dup" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "" "" "0" "" "" "g.33578322dup" "" "pathogenic" "" "0000163709" "21" "50" "21" "34955926" "34955926" "subst" "0" "01924" "DONSON_000016" "g.34955926A>G" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "c.832T>C and/or c.845A>G" "" "Germline" "yes" "" "0" "" "" "g.33583620A>G" "" "VUS" "" "0000163710" "21" "90" "21" "34955913" "34955913" "subst" "0" "01924" "DONSON_000006" "g.34955913T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "c.832T>C and/or c.845A>G" "" "Germline" "yes" "" "0" "" "" "g.33583607T>C" "" "pathogenic" "" "0000163711" "1" "90" "21" "34953676" "34953676" "subst" "1.62444E-5" "01924" "DONSON_000017" "g.34953676G>A" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "" "" "0" "" "" "g.33581370G>A" "" "pathogenic" "" "0000163879" "21" "90" "21" "34953705" "34953710" "del" "0" "01924" "DONSON_000001" "g.34953705_34953710del" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "1251_1256delCTCTAA" "" "Germline" "yes" "" "0" "" "" "g.33581399_33581404del" "" "pathogenic" "" "0000163881" "21" "90" "21" "34951746" "34951747" "del" "0" "01924" "DONSON_000018" "g.34951746_34951747del" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "1474_1475delCA" "" "Germline" "" "" "0" "" "" "g.33579440_33579441del" "" "pathogenic" "" "0000163882" "11" "95" "21" "34955979" "34955979" "subst" "7.18843E-5" "01924" "DONSON_000019" "g.34955979A>G" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "c.786-7T>C" "" "Germline" "" "" "0" "" "" "g.33583673A>G" "" "pathogenic" "" "0000163883" "21" "90" "21" "34955882" "34955882" "subst" "4.06101E-6" "01924" "DONSON_000007" "g.34955882G>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583576G>C" "" "pathogenic" "" "0000163884" "10" "90" "21" "34954370" "34954370" "subst" "4.87448E-5" "01924" "DONSON_000010" "g.34954370T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "c.1047-9A>G (SS)" "" "Germline" "yes" "" "0" "" "" "g.33582064T>C" "" "pathogenic" "" "0000163885" "1" "90" "21" "34953676" "34953676" "subst" "1.62444E-5" "01924" "DONSON_000017" "g.34953676G>A" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "" "" "0" "" "" "g.33581370G>A" "" "pathogenic" "" "0000163886" "21" "90" "21" "34950684" "34950686" "dup" "0" "01924" "DONSON_000008" "g.34950684_34950686dup" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "1628_1630dupAAA" "" "Germline" "yes" "" "0" "" "" "g.33578378_33578380dup" "" "pathogenic" "" "0000163887" "11" "90" "21" "34954485" "34954485" "subst" "1.21859E-5" "01924" "DONSON_000009" "g.34954485G>A" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33582179G>A" "" "pathogenic" "" "0000163888" "21" "90" "21" "34950684" "34950686" "dup" "0" "01924" "DONSON_000008" "g.34950684_34950686dup" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "1628_1630dupAAA" "" "Germline" "yes" "" "0" "" "" "g.33578378_33578380dup" "" "pathogenic" "" "0000163889" "11" "90" "21" "34954485" "34954485" "subst" "1.21859E-5" "01924" "DONSON_000009" "g.34954485G>A" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33582179G>A" "" "pathogenic" "" "0000163890" "2" "30" "21" "34960864" "34960866" "" "0" "01924" "DONSON_000004" "g.(34960864_34960866?)" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "S28R" "variant not described on DNA level, one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000163891" "10" "10" "21" "34956005" "34956005" "subst" "0.000507932" "01924" "DONSON_000002" "g.34956005T>C" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33583699T>C" "" "benign" "" "0000163892" "10" "90" "21" "34951753" "34951753" "subst" "0.000998968" "01924" "DONSON_000003" "g.34951753T>G" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "K489T" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33579447T>G" "" "pathogenic" "" "0000163893" "10" "30" "21" "34960864" "34960866" "" "0" "01924" "DONSON_000004" "g.(34960864_34960866?)" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "S28R" "variant not described on DNA level; one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000163895" "10" "30" "21" "34960864" "34960866" "" "0" "01924" "DONSON_000004" "g.(34960864_34960866?)" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "S28R" "variant not described on DNA level,\r\none of three co-segregating variants" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000163896" "10" "90" "21" "34951753" "34951753" "subst" "0.000998968" "01924" "DONSON_000003" "g.34951753T>G" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "K489T" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33579447T>G" "" "pathogenic" "" "0000163897" "10" "10" "21" "34956005" "34956005" "subst" "0.000507932" "01924" "DONSON_000002" "g.34956005T>C" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33583699T>C" "" "benign" "" "0000163898" "11" "30" "21" "34960864" "34960866" "" "0" "01924" "DONSON_000004" "g.(34960864_34960866?)" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "S28R" "variant not described on DNA level,\r\none of three co-segregating variants" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000163903" "11" "90" "21" "34951753" "34951753" "subst" "0.000998968" "01924" "DONSON_000003" "g.34951753T>G" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "K489T" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33579447T>G" "" "pathogenic" "" "0000163904" "11" "10" "21" "34956005" "34956005" "subst" "0.000507932" "01924" "DONSON_000002" "g.34956005T>C" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33583699T>C" "" "benign" "" "0000163905" "11" "30" "21" "34960864" "34960866" "" "0" "01924" "DONSON_000004" "g.(34960864_34960866?)" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "S28R" "variant not described on DNA level,\r\none of three co-segregating variants" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000163906" "11" "90" "21" "34951753" "34951753" "subst" "0.000998968" "01924" "DONSON_000003" "g.34951753T>G" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "K489T" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33579447T>G" "" "pathogenic" "" "0000163907" "11" "10" "21" "34956005" "34956005" "subst" "0.000507932" "01924" "DONSON_000002" "g.34956005T>C" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33583699T>C" "" "benign" "" "0000163913" "11" "30" "21" "34960864" "34960866" "" "0" "01924" "DONSON_000004" "g.(34960864_34960866?)" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "S28R" "variant not described on DNA level,\r\none of three co-segregating variants" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000163914" "11" "90" "21" "34951753" "34951753" "subst" "0.000998968" "01924" "DONSON_000003" "g.34951753T>G" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "K489T" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33579447T>G" "" "pathogenic" "" "0000163915" "11" "10" "21" "34956005" "34956005" "subst" "0.000507932" "01924" "DONSON_000002" "g.34956005T>C" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33583699T>C" "" "benign" "" "0000163916" "2" "10" "21" "34956005" "34956005" "subst" "0.000507932" "01924" "DONSON_000002" "g.34956005T>C" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33583699T>C" "" "benign" "" "0000163917" "2" "90" "21" "34951753" "34951753" "subst" "0.000998968" "01924" "DONSON_000003" "g.34951753T>G" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "K489T" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33579447T>G" "" "pathogenic" "" "0000163920" "2" "30" "21" "34960864" "34960866" "" "0" "01924" "DONSON_000004" "g.(34960864_34960866?)" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "S28R" "variant not described on DNA level,\r\none of three co-segregating variants" "Germline" "yes" "" "0" "" "" "" "" "likely benign" "" "0000163921" "2" "90" "21" "34951753" "34951753" "subst" "0.000998968" "01924" "DONSON_000003" "g.34951753T>G" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "K489T" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33579447T>G" "" "pathogenic" "" "0000163922" "2" "10" "21" "34956005" "34956005" "subst" "0.000507932" "01924" "DONSON_000002" "g.34956005T>C" "1/21 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "one of three co-segregating variants" "Germline" "yes" "" "0" "" "" "g.33583699T>C" "" "benign" "" "0000163944" "0" "30" "21" "34960864" "34960866" "" "0" "00006" "DONSON_000004" "g.(34960864_34960866?)" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "S28R" "expression cloning shows normal protein levels, normal subcellular localization (0.9) and complemented loss of endogenous DONSON by rescuing spontaneous fork stalling after DONSON depletion" "In vitro (cloned)" "-" "" "0" "" "" "" "" "NA" "" "0000163945" "0" "90" "21" "34951753" "34951753" "subst" "0.000998968" "00006" "DONSON_000003" "g.34951753T>G" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "K489T" "expression cloning showed reduced protein levels, normal subcellular localization (0.9) and did not complement loss of endogenous DONSON by rescuing spontaneous fork stalling after DONSON depletion" "In vitro (cloned)" "-" "" "0" "" "" "g.33579447T>G" "" "NA" "" "0000163946" "0" "90" "21" "34953621" "34953621" "subst" "0" "00006" "DONSON_000005" "g.34953621A>G" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "M446T" "expression cloning showed substantially reduced protein levels, disrupted subcellular localization (0.3) and did not complement loss of endogenous DONSON by rescuing spontaneous fork stalling after DONSON depletion" "In vitro (cloned)" "-" "" "0" "" "" "g.33581315A>G" "" "NA" "" "0000163947" "0" "90" "21" "34955913" "34955913" "subst" "0" "00006" "DONSON_000006" "g.34955913T>C" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "Y282C" "expression cloning showed disrupted subcellular localization (0.05)" "In vitro (cloned)" "-" "" "0" "" "" "g.33583607T>C" "" "NA" "" "0000163948" "0" "90" "21" "34955882" "34955882" "subst" "4.06101E-6" "00006" "DONSON_000007" "g.34955882G>C" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "expression cloning showed disrupted subcellular localization (0.1)" "In vitro (cloned)" "" "" "0" "" "" "g.33583576G>C" "" "NA" "" "0000163949" "0" "90" "21" "34953705" "34953710" "del" "0" "00006" "DONSON_000001" "g.34953705_34953710del" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "expression cloning showed disrupted subcellular localization (0.35)" "In vitro (cloned)" "-" "" "0" "" "" "g.33581399_33581404del" "" "NA" "" "0000163950" "0" "90" "21" "34950684" "34950686" "dup" "0" "00006" "DONSON_000008" "g.34950684_34950686dup" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "Q543_I544insK" "expression cloning showed disrupted subcellular localization (0.3)" "In vitro (cloned)" "-" "" "0" "" "" "g.33578378_33578380dup" "" "NA" "" "0000164234" "3" "90" "21" "34955994" "34955994" "subst" "0" "01924" "DONSON_000011" "g.34955994T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583688T>C" "" "pathogenic" "" "0000164238" "3" "90" "21" "34955994" "34955994" "subst" "0" "01924" "DONSON_000011" "g.34955994T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583688T>C" "" "pathogenic" "" "0000164244" "3" "90" "21" "34953621" "34953621" "subst" "0" "01924" "DONSON_000005" "g.34953621A>G" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33581315A>G" "" "pathogenic" "" "0000164246" "3" "90" "21" "34953621" "34953621" "subst" "0" "01924" "DONSON_000005" "g.34953621A>G" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33581315A>G" "" "pathogenic" "" "0000164247" "3" "90" "21" "34953621" "34953621" "subst" "0" "01924" "DONSON_000005" "g.34953621A>G" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33581315A>G" "" "pathogenic" "" "0000164248" "3" "90" "21" "34955994" "34955994" "subst" "0" "01924" "DONSON_000011" "g.34955994T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583688T>C" "" "pathogenic" "" "0000164249" "3" "90" "21" "34955994" "34955994" "subst" "0" "01924" "DONSON_000011" "g.34955994T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583688T>C" "" "pathogenic" "" "0000164250" "3" "90" "21" "34955994" "34955994" "subst" "0" "01924" "DONSON_000011" "g.34955994T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583688T>C" "" "pathogenic" "" "0000164251" "3" "90" "21" "34955994" "34955994" "subst" "0" "01924" "DONSON_000011" "g.34955994T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583688T>C" "" "pathogenic" "" "0000164252" "3" "90" "21" "34955994" "34955994" "subst" "0" "01924" "DONSON_000011" "g.34955994T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583688T>C" "" "pathogenic" "" "0000164253" "3" "90" "21" "34955994" "34955994" "subst" "0" "01924" "DONSON_000011" "g.34955994T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583688T>C" "" "pathogenic" "" "0000164254" "3" "90" "21" "34955994" "34955994" "subst" "0" "01924" "DONSON_000011" "g.34955994T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33583688T>C" "" "pathogenic" "" "0000164255" "3" "90" "21" "34953661" "34953661" "subst" "0" "01924" "DONSON_000012" "g.34953661G>A" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33581355G>A" "" "pathogenic" "" "0000164265" "21" "90" "21" "34953704" "34953704" "dup" "0" "01924" "DONSON_000014" "g.34953704dup" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33581398dup" "" "pathogenic" "" "0000164270" "11" "90" "21" "34951709" "34951709" "subst" "1.62816E-5" "01924" "DONSON_000013" "g.34951709C>T" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33579403C>T" "" "pathogenic" "" "0000164271" "11" "90" "21" "34951709" "34951709" "subst" "1.62816E-5" "01924" "DONSON_000013" "g.34951709C>T" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33579403C>T" "" "pathogenic" "" "0000164272" "21" "90" "21" "34953704" "34953704" "dup" "0" "01924" "DONSON_000014" "g.34953704dup" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33581398dup" "" "pathogenic" "" "0000164273" "3" "90" "21" "34954370" "34954370" "subst" "4.87448E-5" "01924" "DONSON_000010" "g.34954370T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33582064T>C" "" "pathogenic" "" "0000164274" "3" "90" "21" "34954370" "34954370" "subst" "4.87448E-5" "01924" "DONSON_000010" "g.34954370T>C" "1/256 cases" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33582064T>C" "" "pathogenic" "" "0000164278" "2" "90" "21" "34951753" "34951753" "subst" "0.000998968" "00006" "DONSON_000003" "g.34951753T>G" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "one of three co-segregating variants" "Germline" "" "" "0" "" "" "g.33579447T>G" "" "pathogenic" "" "0000164279" "2" "30" "21" "34960864" "34960866" "" "0" "00006" "DONSON_000004" "g.(34960864_34960866?)" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "S28R" "variant not described on DNA level; one of three co-segregating variants" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000164280" "2" "10" "21" "34956005" "34956005" "subst" "0.000507932" "00006" "DONSON_000002" "g.34956005T>C" "" "{PMID:Reynolds 2017:28191891}, {DOI:Reynolds 2017:10.1038/ng.3790}" "" "" "one of three co-segregating variants" "Germline" "" "" "0" "" "" "g.33583699T>C" "" "benign" "" "0000223796" "0" "90" "21" "34951786" "34951786" "subst" "2.03036E-5" "02313" "DONSON_000021" "g.34951786G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.33579480G>A" "" "pathogenic" "" "0000225080" "11" "90" "21" "34954363" "34954363" "subst" "0" "02313" "DONSON_000022" "g.34954363T>C" "" "" "" "" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.33582057T>C" "" "pathogenic" "" "0000225081" "0" "90" "21" "34951786" "34951786" "subst" "2.03036E-5" "02313" "DONSON_000021" "g.34951786G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33579480G>A" "" "pathogenic" "" "0000225082" "0" "90" "21" "34954363" "34954363" "subst" "0" "02313" "DONSON_000022" "g.34954363T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.33582057T>C" "" "pathogenic" "" "0000438382" "21" "90" "21" "34957020" "34957020" "subst" "0" "02313" "DONSON_000023" "g.34957020A>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.33584714A>G" "" "pathogenic" "" "0000438395" "2" "90" "21" "34951786" "34951786" "subst" "2.03036E-5" "02313" "DONSON_000021" "g.34951786G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33579480G>A" "" "pathogenic" "" "0000570572" "0" "30" "21" "34939585" "34939585" "subst" "0.00188427" "02326" "DONSON_000025" "g.34939585T>G" "" "" "" "SON(NM_138927.2):c.6768+12T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33567279T>G" "" "likely benign" "" "0000570573" "0" "30" "21" "34945779" "34945779" "subst" "0.000453028" "02326" "DONSON_000026" "g.34945779G>A" "" "" "" "SON(NM_138927.2):c.7033+18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33573473G>A" "" "likely benign" "" "0000570574" "0" "30" "21" "34947942" "34947942" "subst" "0.00148837" "02326" "DONSON_000027" "g.34947942G>A" "" "" "" "SON(NM_138927.2):c.7074G>A (p.G2358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33575636G>A" "" "likely benign" "" "0000570575" "0" "30" "21" "34948068" "34948068" "subst" "0.00280126" "02326" "DONSON_000028" "g.34948068T>C" "" "" "" "SON(NM_138927.2):c.7106-16T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33575762T>C" "" "likely benign" "" "0000570576" "0" "10" "21" "34948697" "34948697" "del" "0.999498" "01943" "DONSON_000029" "g.34948697del" "" "" "" "SON(NM_138927.2):c.7248delA (p.R2416Sfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33576391del" "" "benign" "" "0000570577" "0" "50" "21" "34950681" "34950681" "subst" "2.84306E-5" "01804" "DONSON_000030" "g.34950681G>A" "" "" "" "DONSON(NM_017613.3):c.1633C>T (p.(Pro545Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33578375G>A" "" "VUS" "" "0000570578" "0" "30" "21" "34950728" "34950728" "subst" "0.00291057" "01804" "DONSON_000031" "g.34950728G>A" "" "" "" "DONSON(NM_017613.3):c.1586C>T (p.(Thr529Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33578422G>A" "" "likely benign" "" "0000570580" "0" "30" "21" "34960634" "34960634" "subst" "0.0230091" "01804" "CRYZL1_000002" "g.34960634G>C" "" "" "" "DONSON(NM_017613.3):c.314C>G (p.(Pro105Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33588328G>C" "" "likely benign" "" "0000618338" "0" "30" "21" "34948130" "34948130" "subst" "0.00218154" "02326" "DONSON_000032" "g.34948130G>A" "" "" "" "SON(NM_138927.2):c.7152G>A (p.R2384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33575824G>A" "" "likely benign" "" "0000658829" "0" "30" "21" "34947983" "34947983" "subst" "0.00111485" "02326" "DONSON_000033" "g.34947983C>T" "" "" "" "SON(NM_138927.2):c.7105+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33575677C>T" "" "likely benign" "" "0000658830" "0" "30" "21" "34960874" "34960874" "subst" "0" "01804" "CRYZL1_000003" "g.34960874C>T" "" "" "" "DONSON(NM_017613.3):c.74G>A (p.(Arg25Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33588568C>T" "" "likely benign" "" "0000727900" "0" "50" "21" "34950642" "34950643" "del" "0" "01943" "DONSON_000034" "g.34950642_34950643del" "" "" "" "DONSON(NM_017613.4):c.1675_1676delGA (p.D559Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727901" "0" "30" "21" "34960703" "34960703" "subst" "0" "01943" "CRYZL1_000005" "g.34960703C>T" "" "" "" "DONSON(NM_017613.4):c.245G>A (p.R82H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000809380" "0" "30" "21" "34947983" "34947983" "subst" "0.00111485" "01943" "DONSON_000033" "g.34947983C>T" "" "" "" "SON(NM_138927.2):c.7105+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895462" "0" "70" "21" "34953704" "34953704" "dup" "0" "02329" "DONSON_000014" "g.34953704dup" "" "" "" "DONSON(NM_017613.4):c.1254dupT (p.K419*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895463" "0" "70" "21" "34960866" "34960866" "subst" "0.00172117" "02329" "CRYZL1_000006" "g.34960866T>G" "" "" "" "DONSON(NM_017613.4):c.82A>C (p.S28R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915448" "0" "50" "21" "34939496" "34939496" "subst" "0" "02325" "DONSON_000035" "g.34939496G>T" "" "" "" "SON(NM_138927.4):c.6691G>T (p.A2231S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920408" "11" "90" "21" "34955881" "34955881" "subst" "1.62443E-5" "01164" "DONSON_000020" "g.34955881G>A" "" "PMID: 28191891, 35298084" "" "" "PVS1, PM3, PM2_SUP" "Germline" "-" "" "" "" "" "" "VCV001687665.2" "pathogenic (recessive)" "ACMG" "0000920409" "21" "70" "21" "34960866" "34960866" "subst" "0.00172117" "01164" "CRYZL1_000006" "g.34960866T>G" "" "PMID: 28191891" "" "c.[82A>C;1466A>C] (p.[S28R;K489T]) haplotype" "ACMG: PM3_VSTR, PM2_SUP; haplotype including p.S28R, p.K489T, and c.786-33A>G was detected in the heterozygous state in trans with truncating variants in five unrelated patients with microcephalic dwarfism" "Germline" "-" "" "" "" "" "" "VCV000431446.12" "likely pathogenic (recessive)" "ACMG" "0000927070" "0" "50" "21" "34948114" "34948114" "subst" "0" "02325" "DONSON_000036" "g.34948114T>G" "" "" "" "SON(NM_138927.4):c.7136T>G (p.I2379S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931215" "0" "90" "21" "34954370" "34954370" "subst" "4.87448E-5" "02326" "DONSON_000010" "g.34954370T>C" "" "" "" "DONSON(NM_017613.4):c.1047-9A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000970292" "0" "30" "21" "34948982" "34948982" "subst" "0" "01804" "DONSON_000037" "g.34948982A>C" "" "" "" "SON(NM_138927.1):c.*252A>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005698" "0" "30" "21" "34932410" "34932410" "subst" "3.66898E-5" "01804" "DONSON_000038" "g.34932410G>T" "" "" "" "SON(NM_032195.2):c.6885G>T (p.(Arg2295Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005699" "0" "50" "21" "34948838" "34948838" "subst" "0" "01804" "DONSON_000039" "g.34948838C>T" "" "" "" "SON(NM_138927.2):c.*108C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005700" "0" "30" "21" "34951868" "34951868" "subst" "0" "01804" "DONSON_000040" "g.34951868C>A" "" "" "" "DONSON(NM_017613.3):c.1351G>T (p.(Ala451Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005701" "0" "50" "21" "34953631" "34953631" "subst" "0" "01804" "DONSON_000041" "g.34953631C>T" "" "" "" "DONSON(NM_017613.3):c.1327G>A (p.(Gly443Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005702" "0" "90" "21" "34957011" "34957011" "subst" "0" "01804" "CRYZL1_000007" "g.34957011G>A" "" "" "" "DONSON(NM_017613.3):c.670C>T (p.(Pro224Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 DONSON ## Count = 100 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Haplotype}}" "0000163507" "00006635" "90" "1251" "0" "1256" "0" "c.1251_1256del" "r.(1251_1256del)" "p.(Asn417_Ser418del)" "8" "" "0000163587" "00006635" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "" "" "0000163588" "00006635" "90" "1254" "0" "1254" "0" "c.1254dup" "r.(1254dup)" "p.(Lys419*)" "8" "" "0000163708" "00006635" "90" "1686" "0" "1686" "0" "c.1686dup" "r.(?)" "p.(Asn563*)" "10" "" "0000163709" "00006635" "50" "832" "0" "832" "0" "c.832T>C" "r.(?)" "p.(Cys278Arg)" "5" "" "0000163710" "00006635" "50" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.(Tyr282Cys)" "5" "" "0000163711" "00006635" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Gln428*)" "10" "" "0000163879" "00006635" "90" "1251" "0" "1256" "0" "c.1251_1256del" "r.(?)" "p.(Asn417_Ser418del)" "8" "" "0000163881" "00006635" "90" "1474" "0" "1475" "0" "c.1474_1475del" "r.(1474_1475del)" "p.(Gln492Glufs*18)" "9" "" "0000163882" "00006635" "95" "786" "-7" "786" "-7" "c.786-7T>C" "r.(=)" "p.(=)" "5i" "" "0000163883" "00006635" "90" "876" "0" "876" "0" "c.876C>G" "r.(?)" "p.(Phe292Leu)" "6" "" "0000163884" "00006635" "90" "1047" "-9" "1047" "-9" "c.1047-9A>G" "r.spl" "p.(=)" "6i" "" "0000163885" "00006635" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(1282c>u)" "p.(Gln428*)" "10" "" "0000163886" "00006635" "90" "1628" "0" "1630" "0" "c.1628_1630dup" "r.(1628_1630dup)" "p.(Gln543_Ile544insLys)" "10" "" "0000163887" "00006635" "90" "1032" "0" "1032" "0" "c.1032C>T" "r.(1023c>u)" "p.(Ser344Ser)" "6" "" "0000163888" "00006635" "90" "1628" "0" "1630" "0" "c.1628_1630dup" "r.(1628_1630dup)" "p.(Gln543_Ile544insLys)" "10" "" "0000163889" "00006635" "90" "1032" "0" "1032" "0" "c.1032C>T" "r.(1023c>u)" "p.(Ser344Ser)" "6" "" "0000163890" "00006635" "30" "82" "0" "82" "0" "c.82A>Cˆ84C>R" "r.(?)" "p.Ser28Arg" "1" "" "0000163891" "00006635" "10" "786" "-33" "786" "-33" "c.786-33A>G" "r.=" "p.=" "4i" "" "0000163892" "00006635" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.1466a>c" "p.Lys489Thr" "9" "" "0000163893" "00006635" "30" "82" "0" "82" "0" "c.82A>Cˆ84C>R" "r.82a>cˆ84c>r" "p.Ser28Arg" "1" "" "0000163895" "00006635" "30" "82" "0" "82" "0" "c.82A>Cˆ84C>R" "r.82a>cˆ84c>r" "p.Ser28Arg" "1" "" "0000163896" "00006635" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.(1466a>c)" "p.(Lys489Thr)" "9" "" "0000163897" "00006635" "10" "786" "-33" "786" "-33" "c.786-33A>G" "r.(=)" "p.(=)" "4i" "" "0000163898" "00006635" "30" "82" "0" "82" "0" "c.82A>Cˆ84C>R" "r.(?)" "p.(Ser28Arg)" "1" "" "0000163903" "00006635" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.(1466a>c)" "p.(Lys489Thr)" "9" "" "0000163904" "00006635" "10" "786" "-33" "786" "-33" "c.786-33A>G" "r.(=)" "p.(=)" "4i" "" "0000163905" "00006635" "30" "82" "0" "82" "0" "c.82A>Cˆ84C>R" "r.(?)" "p.Ser28Arg" "1" "" "0000163906" "00006635" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.(1466a>c)" "p.(Lys489Thr)" "9" "" "0000163907" "00006635" "10" "786" "-33" "786" "-33" "c.786-33A>G" "r.(=)" "p.(=)" "4i" "" "0000163913" "00006635" "30" "82" "0" "82" "0" "c.82A>Cˆ84C>R" "r.(?)" "p.Ser28Arg" "1" "" "0000163914" "00006635" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.(1466a>c)" "p.(Lys489Thr)" "9" "" "0000163915" "00006635" "10" "786" "-33" "786" "-33" "c.786-33A>G" "r.(=)" "p.(=)" "4i" "" "0000163916" "00006635" "10" "786" "-33" "786" "-33" "c.786-33A>G" "r.(=)" "p.(=)" "4i" "" "0000163917" "00006635" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.(1466a>c)" "p.(Lys489Thr)" "9" "" "0000163920" "00006635" "30" "82" "0" "82" "0" "c.82A>Cˆ84C>R" "r.(?)" "p.Ser28Arg" "1" "" "0000163921" "00006635" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.(1466a>c)" "p.(Lys489Thr)" "9" "" "0000163922" "00006635" "10" "786" "-33" "786" "-33" "c.786-33A>G" "r.(=)" "p.(=)" "4i" "" "0000163944" "00006635" "30" "82" "0" "82" "0" "c.82A>Cˆ84C>R" "-" "p.Ser28Arg" "1" "" "0000163945" "00006635" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.(?)" "p.Lys489Thr" "9" "" "0000163946" "00006635" "90" "1337" "0" "1337" "0" "c.1337T>C" "r.(?)" "p.Met446Thr" "8" "" "0000163947" "00006635" "90" "845" "0" "845" "0" "c.845A>G" "r.(?)" "p.Tyr282Cys" "5" "" "0000163948" "00006635" "90" "876" "0" "876" "0" "c.876C>G" "r.(?)" "p.Phe292Leu" "5" "" "0000163949" "00006635" "90" "1251" "0" "1256" "0" "c.1251_1256del" "r.(?)" "p.Asn417_Ser418del" "8" "" "0000163950" "00006635" "90" "1628" "0" "1630" "0" "c.1628_1630dup" "r.(?)" "p.Gln543_Ile544insLys" "10" "" "0000164234" "00006635" "90" "786" "-22" "786" "-22" "c.786-22A>G" "r.spl" "p.(=)" "4i" "" "0000164238" "00006635" "90" "786" "-22" "786" "-22" "c.786-22A>G" "r.786_964del" "p.Ser263Tyrfs*2" "4i" "" "0000164244" "00006635" "90" "1337" "0" "1337" "0" "c.1337T>C" "r.(1337u>c)" "p.(Met446Thr)" "8" "" "0000164246" "00006635" "90" "1337" "0" "1337" "0" "c.1337T>C" "r.(?)" "p.(Met446Thr)" "8" "" "0000164247" "00006635" "90" "1337" "0" "1337" "0" "c.1337T>C" "r.(1337u>c)" "p.(Met446Thr)" "8" "" "0000164248" "00006635" "90" "786" "-22" "786" "-22" "c.786-22A>G" "r.spl" "p.(=)" "4i" "" "0000164249" "00006635" "90" "786" "-22" "786" "-22" "c.786-22A>G" "r.spl" "p.(=)" "4i" "" "0000164250" "00006635" "90" "786" "-22" "786" "-22" "c.786-22A>G" "r.spl" "p.(=)" "4i" "" "0000164251" "00006635" "90" "786" "-22" "786" "-22" "c.786-22A>G" "r.spl" "p.(=)" "4i" "" "0000164252" "00006635" "90" "786" "-22" "786" "-22" "c.786-22A>G" "r.spl" "p.(=)" "4i" "" "0000164253" "00006635" "90" "786" "-22" "786" "-22" "c.786-22A>G" "r.spl" "p.(=)" "4i" "" "0000164254" "00006635" "90" "786" "-22" "786" "-22" "c.786-22A>G" "r.spl" "p.(=)" "4i" "" "0000164255" "00006635" "90" "1297" "0" "1297" "0" "c.1297C>T" "r.(1297c>u)" "p.(Pro433Ser)" "8" "" "0000164265" "00006635" "90" "1254" "0" "1254" "0" "c.1254dup" "r.(1254dup)" "p.(Lys419*)" "8" "" "0000164270" "00006635" "90" "1510" "0" "1510" "0" "c.1510G>A" "r.(1510g>a)" "p.(Glu504Lys)" "9" "" "0000164271" "00006635" "90" "1510" "0" "1510" "0" "c.1510G>A" "r.(1510g>a)" "p.(Glu504Lys)" "9" "" "0000164272" "00006635" "90" "1254" "0" "1254" "0" "c.1254dup" "r.(1254dup)" "p.(Lys419*)" "8" "" "0000164273" "00006635" "90" "1047" "-9" "1047" "-9" "c.1047-9A>G" "r.[?, 1046_1047ins1046+1_1047-10insgins1047-8_1047-1, =]" "p.(=)" "6i" "" "0000164274" "00006635" "90" "1047" "-9" "1047" "-9" "c.1047-9A>G" "r.[?, 1046_1047ins1046+1_1047-10insgins1047-8_1047-1, =]" "p.(=)" "6i" "" "0000164278" "00006635" "90" "1466" "0" "1466" "0" "c.1466A>C" "r.(?)" "p.(Lys489Thr)" "9" "" "0000164279" "00006635" "30" "82" "0" "82" "0" "c.82A>Cˆ84C>R" "r.(?)" "p.(Ser28Arg)" "1" "" "0000164280" "00006635" "10" "786" "-33" "786" "-33" "c.786-33A>G" "r.(=)" "p.(=)" "4i" "" "0000223796" "00006635" "90" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Pro478Leu)" "9" "" "0000225080" "00006635" "90" "1047" "-2" "1047" "-2" "c.1047-2A>G" "r.spl" "p.?" "6i" "" "0000225081" "00006635" "90" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Pro478Leu)" "9" "" "0000225082" "00006635" "90" "1047" "-2" "1047" "-2" "c.1047-2A>G" "r.spl" "p.?" "6i" "" "0000438382" "00006635" "90" "661" "0" "661" "0" "c.661T>C" "r.(?)" "p.(Trp221Arg)" "4" "pathogenic, recessive" "0000438395" "00006635" "90" "1433" "0" "1433" "0" "c.1433C>T" "r.(?)" "p.(Pro478Leu)" "" "" "0000570572" "00006635" "30" "12729" "0" "12729" "0" "c.*11028A>C" "r.(=)" "p.(=)" "" "" "0000570573" "00006635" "30" "6535" "0" "6535" "0" "c.*4834C>T" "r.(=)" "p.(=)" "" "" "0000570574" "00006635" "30" "4372" "0" "4372" "0" "c.*2671C>T" "r.(=)" "p.(=)" "" "" "0000570575" "00006635" "30" "4246" "0" "4246" "0" "c.*2545A>G" "r.(=)" "p.(=)" "" "" "0000570576" "00006635" "10" "3617" "0" "3617" "0" "c.*1916del" "r.(?)" "p.(=)" "" "" "0000570577" "00006635" "50" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Pro545Ser)" "" "" "0000570578" "00006635" "30" "1586" "0" "1586" "0" "c.1586C>T" "r.(?)" "p.(Thr529Ile)" "" "" "0000570580" "00006635" "30" "314" "0" "314" "0" "c.314C>G" "r.(?)" "p.(Pro105Arg)" "" "" "0000618338" "00006635" "30" "4184" "0" "4184" "0" "c.*2483C>T" "r.(=)" "p.(=)" "" "" "0000658829" "00006635" "30" "4331" "0" "4331" "0" "c.*2630G>A" "r.(=)" "p.(=)" "" "" "0000658830" "00006635" "30" "74" "0" "74" "0" "c.74G>A" "r.(?)" "p.(Arg25Lys)" "" "" "0000727900" "00006635" "50" "1675" "0" "1676" "0" "c.1675_1676del" "r.(?)" "p.(Asp559Leufs*4)" "" "" "0000727901" "00006635" "30" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Arg82His)" "" "" "0000809380" "00006635" "30" "4331" "0" "4331" "0" "c.*2630G>A" "r.(=)" "p.(=)" "" "" "0000895462" "00006635" "70" "1254" "0" "1254" "0" "c.1254dup" "r.(?)" "p.(Lys419*)" "" "" "0000895463" "00006635" "70" "82" "0" "82" "0" "c.82A>C" "r.(?)" "p.(Ser28Arg)" "" "" "0000915448" "00006635" "50" "12818" "0" "12818" "0" "c.*11117C>A" "r.(=)" "p.(=)" "" "" "0000920408" "00006635" "90" "877" "0" "877" "0" "c.877C>T" "r.(?)" "p.(Arg293*)" "" "" "0000920409" "00006635" "70" "82" "0" "82" "0" "c.82A>C" "r.(?)" "p.(Ser28Arg)" "" "" "0000927070" "00006635" "50" "4200" "0" "4200" "0" "c.*2499A>C" "r.(=)" "p.(=)" "" "" "0000931215" "00006635" "90" "1047" "-9" "1047" "-9" "c.1047-9A>G" "r.(=)" "p.(=)" "" "" "0000970292" "00006635" "30" "3332" "0" "3332" "0" "c.*1631T>G" "r.(=)" "p.(=)" "" "" "0001005698" "00006635" "30" "19904" "0" "19904" "0" "c.*18203C>A" "r.(=)" "p.(=)" "" "" "0001005699" "00006635" "50" "3476" "0" "3476" "0" "c.*1775G>A" "r.(=)" "p.(=)" "" "" "0001005700" "00006635" "30" "1351" "0" "1351" "0" "c.1351G>T" "r.(?)" "p.(Ala451Ser)" "" "" "0001005701" "00006635" "50" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Gly443Ser)" "" "" "0001005702" "00006635" "90" "670" "0" "670" "0" "c.670C>T" "r.(?)" "p.(Pro224Ser)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 68 "{{screeningid}}" "{{variantid}}" "0000101057" "0000163507" "0000101057" "0000163891" "0000101057" "0000163892" "0000101057" "0000163893" "0000101083" "0000163587" "0000101083" "0000163898" "0000101083" "0000163903" "0000101083" "0000163904" "0000101084" "0000163588" "0000101084" "0000163905" "0000101084" "0000163906" "0000101084" "0000163907" "0000101204" "0000163708" "0000101204" "0000164278" "0000101204" "0000164279" "0000101204" "0000164280" "0000101205" "0000163709" "0000101205" "0000163710" "0000101205" "0000163913" "0000101205" "0000163914" "0000101205" "0000163915" "0000101206" "0000163711" "0000101206" "0000163890" "0000101206" "0000163916" "0000101206" "0000163917" "0000101355" "0000163879" "0000101355" "0000163895" "0000101355" "0000163896" "0000101355" "0000163897" "0000101356" "0000163885" "0000101356" "0000163920" "0000101356" "0000163921" "0000101356" "0000163922" "0000101358" "0000163881" "0000101358" "0000163882" "0000101359" "0000163883" "0000101359" "0000163884" "0000101360" "0000163886" "0000101360" "0000163887" "0000101361" "0000163888" "0000101361" "0000163889" "0000101634" "0000164234" "0000101635" "0000164238" "0000101636" "0000164244" "0000101637" "0000164246" "0000101638" "0000164247" "0000101639" "0000164248" "0000101640" "0000164249" "0000101641" "0000164250" "0000101642" "0000164251" "0000101643" "0000164252" "0000101644" "0000164253" "0000101645" "0000164254" "0000101646" "0000164255" "0000101647" "0000164265" "0000101647" "0000164270" "0000101648" "0000164271" "0000101648" "0000164272" "0000101649" "0000164273" "0000101650" "0000164274" "0000134108" "0000223796" "0000134108" "0000225080" "0000134888" "0000225081" "0000134888" "0000225082" "0000208510" "0000438382" "0000208510" "0000438395" "0000434605" "0000920408" "0000434605" "0000920409"