### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RAI1) # 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}}" "RAI1" "retinoic acid induced 1" "17" "p11.2" "unknown" "NG_007101.2" "UD_132084547873" "" "http://www.LOVD.nl/RAI1" "" "1" "9834" "10743" "607642" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/RAI1_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2012-05-01 00:00:00" "00006" "2015-09-22 16:51:25" "00006" "2025-08-26 16:14:57" ## 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}}" "00000081" "RAI1" "retinoic acid induced 1" "001" "NM_030665.3" "" "NP_109590.3" "" "" "" "-469" "7193" "5721" "17584787" "17714767" "00002" "2012-05-11 13:12:02" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 10 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01004" "SMS" "Smith-Magenis syndrome (SMS)" "AD;IC" "182290" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02012" "PCKDC" "deficiency, phosphoenolpyruvate carboxykinase, cytosolic (PCKDC)" "AR" "261680" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-12-13 10:38:21" "02087" "SIDS" "death, sudden, syndrome, infant (SIDS)" "AR" "272120" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02990" "VUR2" "reflux, vesicoureteral, type 2 (VUR-2)" "AD" "610878" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04187" "POF" "ovarian failure, premature (POF)" "" "" "" "" "" "00006" "2015-02-14 15:50:12" "00006" "2015-12-08 23:53:05" "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}}" "RAI1" "00139" "RAI1" "01004" ## Individuals ## Do not remove or alter this header ## ## Count = 34 "{{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}}" "00000029" "" "" "" "1" "" "00004" "{PMID:Almomani 2011:21102627}" "" "" "" "" "" "0" "" "" "" "" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00019869" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00024244" "" "" "" "1" "" "00006" "{PMID:Gilissen 2014:24896178}" "" "" "" "" "" "0" "" "" "" "" "00036635" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036636" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036637" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036638" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036639" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036640" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036641" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036642" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036643" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00050103" "" "" "" "1" "" "00006" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}" "" "M" "" "" ">18y" "0" "" "" "" "" "00174869" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00218413" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00289311" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00291650" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291651" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295667" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00296766" "" "" "" "1" "" "00006" "{PMID:Redin 2014:25167861}" "analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "APN-46" "00307309" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" "" "00315012" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1410" "00359459" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00361615" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "F" "no" "Saudi Arabia" "" "0" "" "" "" "09DG-00001" "00403108" "" "" "" "2" "" "00006" "{PMID:Wang 2014:24597873}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "family" "00409864" "" "" "" "1" "" "01164" "" "" "M" "?" "Turkey" "" "0" "" "" "" "196579" "00431213" "" "" "00310676" "1" "" "00006" "{PMID:Adams 2014:24863970}" "sister" "F" "" "" "" "0" "" "" "Jew-Ashkenazi" "FamPatII2" "00431876" "" "" "" "1" "" "01602" "" "" "M" "" "Switzerland" "00y04m" "" "" "" "Europe" "SIDS066" "00433658" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00434050" "" "" "" "1" "" "03544" "" "" "" "" "" "" "" "" "" "" "" "00435356" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "264393" "00462132" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 26 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00019869" "00139" "00024244" "00000" "00036642" "00198" "00050103" "02990" "00174869" "00198" "00218413" "00198" "00289311" "00198" "00291650" "00198" "00291651" "00198" "00295667" "00198" "00296766" "00139" "00307309" "00198" "00315012" "00198" "00359459" "00198" "00361615" "00139" "00403108" "04187" "00409864" "01004" "00431213" "01004" "00431213" "02012" "00431876" "02087" "00433658" "01004" "00434050" "01004" "00435356" "01004" "00462132" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01004, 01157, 02012, 02087, 02990, 04187, 05611 ## Count = 23 "{{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}}" "0000017599" "00139" "00019869" "00705" "Unknown" "?" "neonatal feeding problems and hypotonia, severe ID, macrocephaly, large cysterna magna, hydrocephalus, myelination delay and wide sulci. Seizures, self-mutilation and sleep disturbances. Facial dysmorphisms included hypertelorism, broad coarse face, low-set ears, macrostomia and mild retromicrognathia. She had small hands and feet, contractures and scoliosis." "" "" "" "" "" "" "" "" "" "" "" "0000036717" "02990" "00050103" "00006" "Isolated (sporadic)" "" "see paper; bilateral high-grade VUR, right\r\nmegaureter at UVJ; 9y-required ureteral reimplantation surgery; wide-open right/left ureteral orifices due to bilateral absence of intravesical ureteral\r\nsegments, ..." "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000139694" "00198" "00174869" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Obesity (HP:0001513)" "" "" "" "" "" "" "" "" "" "" "" "0000156611" "00198" "00036642" "01164" "Unknown" "" "behavioral disorder" "" "" "" "" "" "" "" "" "" "behavioral disorder" "" "0000166897" "00198" "00218413" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Sleep disturbance (HP:0002360); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "0000222942" "00198" "00289311" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Truncal obesity (HP:0001956); Behavioral abnormality (HP:0000708); Brachydactyly (HP:0001156); Short neck (HP:0000470); Telecanthus (HP:0000506); Thin upper lip vermilion (HP:0000219)" "" "" "" "" "" "" "" "" "" "" "" "0000223231" "00198" "00295667" "01164" "Unknown" "" "Lower limb asymmetry (HP:0100559); Intellectual disability, mild (HP:0001256); Global developmental delay (HP:0001263); Talipes valgus (HP:0004684); Obsessive-compulsive behavior (HP:0000722); Dry skin (HP:0000958)" "" "" "" "" "" "" "" "" "" "" "" "0000224165" "00139" "00296766" "00006" "Familial, autosomal dominant" "" "moderate intellectual disability" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000233109" "00198" "00307309" "01164" "Unknown" "" "Global developmental delay (HP:0001263); Intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000238764" "00198" "00315012" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Smith Magenis syndrome" "chromatinopathy" "" "0000254701" "00198" "00359459" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Prominent nasal tip (HP:0005274); Attention deficit hyperactivity disorder (HP:0007018)" "" "" "" "" "" "" "" "" "" "" "" "0000257020" "00139" "00361615" "00006" "Isolated (sporadic)" "13y" "syndromic; intellectual disability, dysmorphism and short stature" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000295855" "04187" "00403108" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "POF9" "premature ovarian failure" "" "0000301980" "01004" "00409864" "01164" "Isolated (sporadic)" "09y" "Autism, Autistic behavior, Attention deficit hyperactivity disorder, Myopia, Hypertension, Obesity, Synophrys, Sensorineural hearing impairment, Delayed speech and language development, Abnormality of pain sensation, Abnormal aggressive, impulsive or violent behavior, Self-injurious behavior, Short toe, Sleep disturbance, Brachydactyly" "" "" "" "" "" "" "" "" "" "" "" "0000321818" "02012" "00431213" "00006" "Familial, autosomal recessive" "" "episodic fasting hypoglycemia, lactic acidemia" "" "" "" "" "" "" "" "" "PCKDC" "" "" "0000321819" "01004" "00431213" "00006" "Isolated (sporadic)" "" "see paper; ..., obesity, brachydactyly, developmental delay, cognitive impairment, behavioral outbursts, sleep disruption, facial appearance" "" "" "" "" "" "" "" "" "Smith-Magenis syndrome" "" "" "0000322444" "02087" "00431876" "01602" "Unknown" "" "SIDS" "" "" "" "" "" "" "" "" "" "" "" "0000324081" "01004" "00433658" "03544" "Isolated (sporadic)" "" "ID, behavioural abnormalities, obesity, visual and hearing defect" "" "" "" "" "" "" "" "" "" "" "" "0000324429" "01004" "00434050" "03544" "Isolated (sporadic)" "" "growth restriction, microcephaly, developmental delay, hearing defect, ichtyosis vulgaris" "" "" "" "" "" "" "" "" "" "" "" "0000325550" "01004" "00435356" "01164" "Isolated (sporadic)" "08y" "Neurodevelopmental delay, Short attention span, Hyperactivity" "" "" "" "" "" "" "" "" "" "" "" "0000349632" "05611" "00462132" "03544" "Isolated (sporadic)" "" "HP:0001256, HP:0000717, HP:0000729, HP:0000736, HP:0000271" "" "" "" "" "" "" "" "" "SMS" "complex neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000029" "00000029" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000019863" "00019869" "1" "00705" "00705" "2014-09-10 09:20:28" "00006" "2014-11-07 22:29:50" "SEQ" "DNA" "" "" "0000024238" "00024244" "1" "00006" "00006" "2014-11-08 17:22:12" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000036705" "00036635" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036706" "00036636" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036707" "00036637" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036708" "00036638" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036709" "00036639" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036710" "00036640" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036711" "00036641" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036712" "00036642" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036713" "00036643" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000050045" "00050103" "1" "00006" "00006" "2015-09-21 21:26:29" "00006" "2015-09-22 16:08:11" "FISH;PCR;RT-PCR;SEQ" "DNA;RNA" "" "" "0000175760" "00174869" "1" "01807" "01807" "2018-08-14 11:05:33" "" "" "SEQ" "DNA" "" "" "0000219484" "00218413" "1" "01807" "01807" "2019-01-29 15:03:14" "" "" "SEQ" "DNA" "" "" "0000290481" "00289311" "1" "01807" "01807" "2020-03-02 12:47:18" "" "" "SEQ" "DNA" "" "" "0000292818" "00291650" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292819" "00291651" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296839" "00295667" "1" "01164" "01164" "2020-03-22 12:44:08" "" "" "SEQ-NG-S" "DNA" "" "" "0000297876" "00296766" "1" "00006" "00006" "2020-04-13 12:27:32" "" "" "SEQ;SEQ-NG" "DNA" "" "221-gene ID panel" "0000308451" "00307309" "1" "01164" "01164" "2020-08-10 12:20:01" "" "" "SEQ-NG-S" "DNA" "" "" "0000316188" "00315012" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000360689" "00359459" "1" "01807" "01807" "2021-03-22 12:32:01" "" "" "SEQ" "DNA" "" "" "0000362843" "00361615" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel" "0000404349" "00403108" "1" "00006" "00006" "2022-02-16 21:21:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000411128" "00409864" "1" "01164" "01164" "2022-05-12 15:53:04" "" "" "SEQ-NG-I" "DNA" "" "" "0000432627" "00431213" "1" "00006" "00006" "2023-02-03 10:55:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000433316" "00431876" "1" "01602" "01602" "2023-02-17 14:55:11" "" "" "SEQ-NG" "DNA" "" "" "0000435116" "00433658" "1" "03544" "03544" "2023-03-12 19:01:25" "" "" "SEQ-NG-I" "DNA" "" "" "0000435513" "00434050" "1" "03544" "03544" "2023-03-18 06:58:02" "" "" "SEQ-NG-I" "DNA" "" "" "0000436836" "00435356" "1" "01164" "01164" "2023-07-19 12:04:11" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000463764" "00462132" "1" "03544" "03544" "2025-01-31 14:26:20" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 51 "{{screeningid}}" "{{geneid}}" "0000000029" "ALG9" "0000000029" "ASPM" "0000000029" "B3GLCT" "0000000029" "BBS1" "0000000029" "CBS" "0000000029" "CC2D1A" "0000000029" "CDK5RAP2" "0000000029" "DLG3" "0000000029" "DNMT3B" "0000000029" "DPM1" "0000000029" "DPP3" "0000000029" "GLI3" "0000000029" "JAG1" "0000000029" "KRAS" "0000000029" "MECP2" "0000000029" "MPDU1" "0000000029" "NLGN4X" "0000000029" "NSD1" "0000000029" "PHF8" "0000000029" "PMM2" "0000000029" "RAI1" "0000000029" "REST" "0000000029" "SATB2" "0000000029" "SCN8A" "0000000029" "SHANK3" "0000000029" "SLC35C1" "0000000029" "TCF4" "0000000029" "TSC1" "0000000029" "UPF3B" "0000000029" "ZEB2" "0000000029" "ZNF41" "0000019863" "CBLB" "0000019863" "KRT32" "0000019863" "RAI1" "0000024238" "RAI1" "0000036705" "RAI1" "0000036706" "RAI1" "0000036707" "RAI1" "0000036708" "RAI1" "0000036709" "RAI1" "0000036710" "RAI1" "0000036711" "RAI1" "0000036712" "RAI1" "0000036713" "RAI1" "0000050045" "PCDH11Y" "0000050045" "ROBO2" "0000297876" "RAI1" "0000316188" "RAI1" "0000362843" "RAI1" "0000411128" "RAI1" "0000436836" "RAI1" ## 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 = 264 "{{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}}" "0000000669" "1" "50" "17" "17696755" "17696755" "subst" "0.441971" "00002" "RAI1_000001" "g.17696755C>A" "" "{PMID:Almomani 2011:21102627}" "" "" "" "Germline" "" "rs11649804" "0" "" "" "g.17793441C>A" "" "VUS" "" "0000005675" "3" "50" "17" "17696531" "17696531" "subst" "0.478532" "00037" "RAI1_000002" "g.17696531G>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17793217G>C" "" "VUS" "" "0000013646" "3" "50" "17" "17654542" "17654542" "subst" "0" "00037" "RAI1_000003" "g.17654542C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.17751228C>G" "" "VUS" "" "0000040325" "0" "90" "17" "17696524" "17696524" "subst" "0" "00705" "RAI1_000004" "g.17696524C>T" "" "{PMID:Gilissen 2014:24896178}" "" "" "associated with ID phenotype" "De novo" "" "" "0" "" "" "g.17793210C>T" "" "pathogenic" "" "0000046796" "0" "30" "17" "17697260" "17697261" "ins" "0" "00006" "RAI1_000005" "g.17697260_17697261insAGT" "" "{PMID:Gilissen 2014:24896178}" "" "17697260insAGT" "" "De novo" "" "" "0" "" "" "g.17793946_17793947insAGT" "" "likely benign" "" "0000063830" "1" "10" "17" "17707105" "17707105" "subst" "0.424956" "01164" "RAI1_000012" "g.17707105T>C" "" "" "" "" "" "Germline" "" "rs3818717" "0" "" "" "g.17803791T>C" "" "benign" "" "0000063831" "1" "10" "17" "17698254" "17698254" "subst" "0.502746" "01164" "RAI1_000009" "g.17698254G>A" "" "" "" "" "" "Germline" "" "rs8067439" "0" "" "" "g.17794940G>A" "" "benign" "" "0000063832" "1" "10" "17" "17697099" "17697099" "subst" "0" "01164" "RAI1_000007" "g.17697099G>A" "" "" "" "" "" "Germline" "" "rs11078398" "0" "" "" "g.17793785G>A" "" "benign" "" "0000063833" "1" "10" "17" "17696755" "17696755" "subst" "0.441971" "01164" "RAI1_000001" "g.17696755C>A" "" "" "" "" "also found in wild type" "Germline" "" "rs11649804" "0" "" "" "g.17793441C>A" "" "benign" "" "0000063834" "1" "10" "17" "17700792" "17700792" "subst" "0.0552108" "01164" "RAI1_000011" "g.17700792C>T" "" "" "" "" "" "Germline" "" "rs35686634" "0" "" "" "g.17797478C>T" "" "benign" "" "0000063835" "1" "10" "17" "17700573" "17700573" "subst" "0.0601892" "01164" "RAI1_000010" "g.17700573T>C" "" "" "" "" "" "Germline" "" "rs4925112" "0" "" "" "g.17797259T>C" "" "benign" "" "0000063836" "1" "10" "17" "17696531" "17696531" "subst" "0.478532" "01164" "RAI1_000002" "g.17696531G>C" "" "" "" "" "also found in wild type" "Germline" "" "rs3803763" "0" "" "" "g.17793217G>C" "" "benign" "" "0000063837" "1" "10" "17" "17696449" "17696449" "subst" "0.000151073" "01164" "RAI1_000006" "g.17696449G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.17793135G>A" "" "benign" "" "0000063838" "1" "10" "17" "17697132" "17697134" "del" "0" "01164" "RAI1_000008" "g.17697132_17697134del" "" "" "" "" "" "Germline" "" "rs71944489" "0" "" "" "g.17793818_17793820del" "" "benign" "" "0000079015" "0" "70" "17" "16000001" "22200000" "del" "0" "00006" "RAI1_000000" "g.(16000001_22200000)del" "" "{PMID:Lu 2007:17357069}, {DOI:Lu 2007:10.1086/512735}" "" "del(17)(p11.2)" "3.4 Mb deletion incl. RAI1 may contribute to some\r\naspects of the sleep/behavioral/cognitive deficits (similar phenotypes in Smith-Magenis syndrome patients)" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000249471" "0" "30" "17" "17697132" "17697134" "dup" "0" "02325" "RAI1_000084" "g.17697132_17697134dup" "" "" "" "RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820dup" "" "likely benign" "" "0000254582" "0" "30" "17" "17699038" "17699038" "subst" "0" "01943" "RAI1_000055" "g.17699038A>G" "" "" "" "RAI1(NM_030665.3):c.2776A>G (p.I926V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795724A>G" "" "likely benign" "" "0000297541" "0" "30" "17" "17698203" "17698203" "subst" "0.0002564" "02325" "RAI1_000050" "g.17698203C>T" "" "" "" "RAI1(NM_030665.3):c.1941C>T (p.S647=), RAI1(NM_030665.4):c.1941C>T (p.S647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794889C>T" "" "likely benign" "" "0000297542" "0" "10" "17" "17698254" "17698254" "subst" "0.502746" "02325" "RAI1_000009" "g.17698254G>A" "" "" "" "RAI1(NM_030665.4):c.1992G>A (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794940G>A" "" "benign" "" "0000297543" "0" "50" "17" "17698312" "17698312" "subst" "8.12295E-6" "02325" "RAI1_000051" "g.17698312C>T" "" "" "" "RAI1(NM_030665.4):c.2050C>T (p.P684S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794998C>T" "" "VUS" "" "0000297544" "0" "10" "17" "17696531" "17696531" "subst" "0.478532" "02325" "RAI1_000002" "g.17696531G>C" "" "" "" "RAI1(NM_030665.4):c.269G>C (p.G90A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793217G>C" "" "benign" "" "0000297545" "0" "50" "17" "17699170" "17699170" "subst" "4.08E-6" "02325" "RAI1_000057" "g.17699170G>A" "" "" "" "RAI1(NM_030665.4):c.2908G>A (p.A970T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795856G>A" "" "VUS" "" "0000297547" "0" "30" "17" "17700043" "17700045" "del" "0" "02325" "RAI1_000065" "g.17700043_17700045del" "" "" "" "RAI1(NM_030665.3):c.3781_3783delGAG (p.(Glu1261del)), RAI1(NM_030665.3):c.3781_3783delGAG (p.E1261del), RAI1(NM_030665.4):c.3781_3783delGAG (p.E12...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796729_17796731del" "" "likely benign" "" "0000297548" "0" "10" "17" "17700774" "17700774" "subst" "0.00576479" "02325" "RAI1_000067" "g.17700774G>T" "" "" "" "RAI1(NM_030665.3):c.4512G>T (p.L1504=), RAI1(NM_030665.4):c.4512G>T (p.L1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797460G>T" "" "benign" "" "0000297549" "0" "50" "17" "17700853" "17700853" "subst" "0" "02325" "RAI1_000068" "g.17700853T>C" "" "" "" "RAI1(NM_030665.4):c.4591T>C (p.Y1531H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797539T>C" "" "VUS" "" "0000297550" "0" "10" "17" "17696755" "17696755" "subst" "0.441971" "02325" "RAI1_000001" "g.17696755C>A" "" "" "" "RAI1(NM_030665.4):c.493C>A (p.P165T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793441C>A" "" "benign" "" "0000297551" "0" "10" "17" "17707105" "17707105" "subst" "0.424956" "02325" "RAI1_000012" "g.17707105T>C" "" "" "" "RAI1(NM_030665.4):c.5601T>C (p.I1867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17803791T>C" "" "benign" "" "0000297552" "0" "30" "17" "17696872" "17696872" "subst" "0.00270848" "02325" "RAI1_000014" "g.17696872C>T" "" "" "" "RAI1(NM_030665.3):c.610C>T (p.P204S, p.(Pro204Ser)), RAI1(NM_030665.4):c.610C>T (p.P204S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793558C>T" "" "likely benign" "" "0000297553" "0" "10" "17" "17697099" "17697100" "del" "0" "02325" "RAI1_000029" "g.17697099_17697100del" "" "" "" "RAI1(NM_030665.3):c.837_838delGC (p.(Gln280fs)), RAI1(NM_030665.4):c.837_838delGC (p.Q280Afs*108)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793785_17793786del" "" "benign" "" "0000297554" "0" "10" "17" "17697099" "17697099" "subst" "0" "02325" "RAI1_000007" "g.17697099G>A" "" "" "" "RAI1(NM_030665.4):c.837G>A (p.(Gln279=)), RAI1(NM_030665.4):c.837_838delGCinsAC (p.Q279_Q280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793785G>A" "" "benign" "" "0000297555" "0" "10" "17" "17697102" "17697102" "del" "0" "02325" "RAI1_000033" "g.17697102del" "" "" "" "RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793788del" "" "benign" "" "0000297556" "0" "10" "17" "17697123" "17697134" "del" "0" "02325" "RAI1_000040" "g.17697123_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793809_17793820del" "" "benign" "" "0000297557" "0" "10" "17" "17697126" "17697134" "del" "0" "02325" "RAI1_000041" "g.17697126_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793812_17793820del" "" "benign" "" "0000297558" "0" "10" "17" "17697132" "17697134" "del" "0" "02325" "RAI1_000008" "g.17697132_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820del" "" "benign" "" "0000299243" "0" "50" "17" "17698072" "17698072" "subst" "0" "02329" "RAI1_000049" "g.17698072C>T" "" "" "" "RAI1(NM_030665.4):c.1810C>T (p.Q604*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794758C>T" "" "VUS" "" "0000299244" "0" "90" "17" "17698723" "17698723" "del" "0" "02329" "RAI1_000054" "g.17698723del" "" "" "" "RAI1(NM_030665.4):c.2461delG (p.E821Rfs*129)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795409del" "" "pathogenic" "" "0000301350" "0" "90" "17" "17697685" "17697685" "subst" "0" "02326" "RAI1_000047" "g.17697685C>T" "" "" "" "RAI1(NM_030665.4):c.1423C>T (p.Q475*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794371C>T" "" "pathogenic" "" "0000301351" "0" "30" "17" "17699912" "17699912" "subst" "0.000610136" "02326" "RAI1_000063" "g.17699912G>A" "" "" "" "RAI1(NM_030665.3):c.3650G>A (p.R1217Q, p.(Arg1217Gln)), RAI1(NM_030665.4):c.3650G>A (p.R1217Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796598G>A" "" "likely benign" "" "0000301352" "0" "30" "17" "17697123" "17697134" "del" "0" "02326" "RAI1_000023" "g.17697123_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793809_17793820del" "" "likely benign" "" "0000301353" "0" "30" "17" "17697132" "17697134" "del" "0" "02326" "RAI1_000019" "g.17697132_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820del" "" "likely benign" "" "0000306736" "0" "30" "17" "17696363" "17696363" "subst" "7.3144E-5" "01943" "RAI1_000013" "g.17696363G>A" "" "" "" "RAI1(NM_030665.3):c.101G>A (p.S34N), RAI1(NM_030665.4):c.101G>A (p.S34N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793049G>A" "" "likely benign" "" "0000306737" "0" "30" "17" "17697412" "17697412" "subst" "2.84507E-5" "01943" "RAI1_000044" "g.17697412G>A" "" "" "" "RAI1(NM_030665.3):c.1150G>A (p.A384T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794098G>A" "" "likely benign" "" "0000306738" "0" "30" "17" "17697541" "17697541" "subst" "0.000974563" "01943" "RAI1_000045" "g.17697541C>T" "" "" "" "RAI1(NM_030665.3):c.1279C>T (p.L427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794227C>T" "" "likely benign" "" "0000306739" "0" "10" "17" "17697588" "17697588" "subst" "0.00105626" "01943" "RAI1_000046" "g.17697588G>A" "" "" "" "RAI1(NM_030665.3):c.1326G>A (p.V442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794274G>A" "" "benign" "" "0000306740" "0" "10" "17" "17697762" "17697762" "subst" "0.00141224" "01943" "RAI1_000048" "g.17697762G>A" "" "" "" "RAI1(NM_030665.3):c.1500G>A (p.P500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794448G>A" "" "benign" "" "0000306741" "0" "10" "17" "17699169" "17699169" "subst" "0.00164747" "01943" "RAI1_000056" "g.17699169C>T" "" "" "" "RAI1(NM_030665.3):c.2907C>T (p.D969=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795855C>T" "" "benign" "" "0000306742" "0" "30" "17" "17699619" "17699619" "subst" "0.000725133" "01943" "RAI1_000061" "g.17699619C>T" "" "" "" "RAI1(NM_030665.3):c.3357C>T (p.S1119=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796305C>T" "" "likely benign" "" "0000306743" "0" "50" "17" "17700313" "17700313" "subst" "2.03201E-5" "01943" "RAI1_000066" "g.17700313G>T" "" "" "" "RAI1(NM_030665.3):c.4051G>T (p.A1351S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796999G>T" "" "VUS" "" "0000306744" "0" "10" "17" "17700774" "17700774" "subst" "0.00576479" "01943" "RAI1_000067" "g.17700774G>T" "" "" "" "RAI1(NM_030665.3):c.4512G>T (p.L1504=), RAI1(NM_030665.4):c.4512G>T (p.L1504=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797460G>T" "" "benign" "" "0000306745" "0" "50" "17" "17701117" "17701117" "subst" "4.06408E-6" "01943" "RAI1_000070" "g.17701117G>T" "" "" "" "RAI1(NM_030665.3):c.4855G>T (p.D1619Y, p.(Asp1619Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797803G>T" "" "VUS" "" "0000306746" "0" "30" "17" "17701298" "17701298" "subst" "0.000580805" "01943" "RAI1_000071" "g.17701298C>T" "" "" "" "RAI1(NM_030665.3):c.5036C>T (p.A1679V), RAI1(NM_030665.4):c.5036C>T (p.A1679V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797984C>T" "" "likely benign" "" "0000306747" "0" "30" "17" "17707106" "17707106" "subst" "0" "01943" "RAI1_000072" "g.17707106G>A" "" "" "" "RAI1(NM_030665.3):c.5602G>A (p.G1868R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17803792G>A" "" "likely benign" "" "0000306748" "0" "30" "17" "17696987" "17696987" "subst" "0.00298216" "01943" "RAI1_000015" "g.17696987C>T" "" "" "" "RAI1(NM_030665.3):c.725C>T (p.P242L, p.(Pro242Leu)), RAI1(NM_030665.4):c.725C>T (p.P242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793673C>T" "" "likely benign" "" "0000306749" "0" "10" "17" "17697102" "17697111" "del" "0" "01943" "RAI1_000035" "g.17697102_17697111del" "" "" "" "RAI1(NM_030665.3):c.840_849delGCAGCAGCAG (p.Q280Hfs*81), RAI1(NM_030665.4):c.840_849delGCAGCAGCAG (p.Q280Hfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793788_17793797del" "" "benign" "" "0000306750" "0" "10" "17" "17697102" "17697102" "subst" "0" "01943" "RAI1_000034" "g.17697102G>A" "" "" "" "RAI1(NM_030665.3):c.840G>A (p.Q280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793788G>A" "" "benign" "" "0000306751" "0" "30" "17" "17697123" "17697134" "del" "0" "01943" "RAI1_000023" "g.17697123_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793809_17793820del" "" "likely benign" "" "0000306752" "0" "10" "17" "17697132" "17697134" "del" "0" "01943" "RAI1_000019" "g.17697132_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820del" "" "benign" "" "0000325234" "0" "30" "17" "17696872" "17696872" "subst" "0.00270848" "01804" "RAI1_000014" "g.17696872C>T" "" "" "" "RAI1(NM_030665.3):c.610C>T (p.P204S, p.(Pro204Ser)), RAI1(NM_030665.4):c.610C>T (p.P204S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793558C>T" "" "likely benign" "" "0000325235" "0" "50" "17" "17697129" "17697134" "dup" "0" "01804" "RAI1_000016" "g.17697129_17697134dup" "" "" "" "RAI1(NM_030665.3):c.831_832insCAGCAG (p.(Asp277_Gln278insGlnGln)), RAI1(NM_030665.4):c.867_872dupGCAGCA (p.Q290_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793815_17793820dup" "" "VUS" "" "0000325236" "0" "50" "17" "17697123" "17697134" "dup" "0" "01804" "RAI1_000017" "g.17697123_17697134dup" "" "" "" "RAI1(NM_030665.3):c.831_832insCAGCAGCAGCAG (p.(Asp277_Gln278insGlnGlnGlnGln)), RAI1(NM_030665.4):c.861_872dupGCAGCAGCAGCA (p.Q288_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793809_17793820dup" "" "VUS" "" "0000325239" "0" "50" "17" "17697132" "17697134" "dup" "0" "01804" "RAI1_000020" "g.17697132_17697134dup" "" "" "" "RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820dup" "" "VUS" "" "0000325242" "0" "50" "17" "17697129" "17697134" "del" "0" "01804" "RAI1_000021" "g.17697129_17697134del" "" "" "" "RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793815_17793820del" "" "VUS" "" "0000325244" "0" "50" "17" "17697126" "17697134" "del" "0" "01804" "RAI1_000022" "g.17697126_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793812_17793820del" "" "VUS" "" "0000325245" "0" "50" "17" "17697114" "17697134" "del" "0" "01804" "RAI1_000024" "g.17697114_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_852del (p.(Gln285_Gln291del)), RAI1(NM_030665.3):c.852_872delGCAGCAGCAGCAGCAGCAGCA (p.Q285_Q291del), RAI1(NM_030665.4):c.85..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793800_17793820del" "" "VUS" "" "0000325250" "0" "50" "17" "17697132" "17697134" "del" "0" "01804" "RAI1_000027" "g.17697132_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_837del (p.(Gln281del)), RAI1(NM_030665.3):c.870_872delGCA (p.Q291del), RAI1(NM_030665.4):c.870_872delGCA (p.Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793818_17793820del" "" "VUS" "" "0000325262" "0" "50" "17" "17698544" "17698544" "subst" "2.43744E-5" "01804" "RAI1_000053" "g.17698544A>C" "" "" "" "RAI1(NM_030665.3):c.2282A>C (p.(His761Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17795230A>C" "" "VUS" "" "0000325264" "0" "50" "17" "17699515" "17699515" "subst" "0" "01804" "RAI1_000060" "g.17699515G>C" "" "" "" "RAI1(NM_030665.3):c.3253G>C (p.(Gly1085Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796201G>C" "" "VUS" "" "0000325265" "0" "50" "17" "17699771" "17699771" "subst" "1.22921E-5" "01804" "RAI1_000062" "g.17699771A>G" "" "" "" "RAI1(NM_030665.3):c.3509A>G (p.(Asn1170Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796457A>G" "" "VUS" "" "0000325266" "0" "30" "17" "17700043" "17700045" "del" "0" "01804" "RAI1_000064" "g.17700043_17700045del" "" "" "" "RAI1(NM_030665.3):c.3781_3783delGAG (p.(Glu1261del)), RAI1(NM_030665.3):c.3781_3783delGAG (p.E1261del), RAI1(NM_030665.4):c.3781_3783delGAG (p.E12...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796729_17796731del" "" "likely benign" "" "0000325268" "0" "50" "17" "17700914" "17700914" "subst" "0.000324955" "01804" "RAI1_000069" "g.17700914C>T" "" "" "" "RAI1(NM_030665.3):c.4652C>T (p.(Ser1551Leu)), RAI1(NM_030665.4):c.4652C>T (p.S1551L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797600C>T" "" "VUS" "" "0000325269" "0" "50" "17" "17701117" "17701117" "subst" "4.06408E-6" "01804" "RAI1_000070" "g.17701117G>T" "" "" "" "RAI1(NM_030665.3):c.4855G>T (p.D1619Y, p.(Asp1619Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797803G>T" "" "VUS" "" "0000325270" "0" "50" "17" "17707127" "17707127" "subst" "8.12876E-6" "01804" "RAI1_000073" "g.17707127C>T" "" "" "" "RAI1(NM_030665.3):c.5623C>T (p.(Leu1875Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17803813C>T" "" "VUS" "" "0000325271" "0" "50" "17" "17713293" "17713293" "subst" "0" "01804" "RAI1_000074" "g.17713293T>C" "" "" "" "RAI1(NM_030665.3):c.5719T>C (p.(Ter1907GlnextTer1)), RAI1(NM_030665.4):c.5719T>C (p.*1907Qext*1)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17809979T>C" "" "VUS" "" "0000325272" "0" "50" "17" "17718146" "17718146" "subst" "0.00921255" "01804" "SREBF1_000001" "g.17718146C>A" "" "" "" "SREBF1(NM_001005291.2):c.2692+3G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17814832C>A" "" "VUS" "" "0000337359" "0" "30" "17" "17585040" "17585040" "subst" "0" "02327" "RAI1_000075" "g.17585040A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17681726A>C" "" "likely benign" "" "0000339555" "0" "10" "17" "17697099" "17697099" "subst" "0" "02327" "RAI1_000007" "g.17697099G>A" "" "" "" "RAI1(NM_030665.4):c.837G>A (p.(Gln279=)), RAI1(NM_030665.4):c.837_838delGCinsAC (p.Q279_Q280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793785G>A" "" "benign" "" "0000339556" "0" "10" "17" "17698254" "17698254" "subst" "0.502746" "02327" "RAI1_000009" "g.17698254G>A" "" "" "" "RAI1(NM_030665.4):c.1992G>A (p.P664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794940G>A" "" "benign" "" "0000339557" "0" "10" "17" "17707105" "17707105" "subst" "0.424956" "02327" "RAI1_000012" "g.17707105T>C" "" "" "" "RAI1(NM_030665.4):c.5601T>C (p.I1867=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17803791T>C" "" "benign" "" "0000341117" "0" "50" "17" "17699603" "17699603" "subst" "0" "02327" "RAI1_000080" "g.17699603C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17796289C>T" "" "VUS" "" "0000341193" "0" "50" "17" "17700973" "17700973" "subst" "6.09796E-5" "02327" "RAI1_000081" "g.17700973G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797659G>A" "" "VUS" "" "0000341416" "0" "10" "17" "17697404" "17697404" "subst" "0.00376291" "02327" "RAI1_000078" "g.17697404C>T" "" "" "" "RAI1(NM_030665.3):c.1142C>T (p.A381V, p.(Ala381Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17794090C>T" "" "benign" "" "0000342012" "0" "70" "17" "17701072" "17701072" "subst" "0" "02327" "RAI1_000082" "g.17701072C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17797758C>T" "" "likely pathogenic" "" "0000346320" "0" "10" "17" "17696531" "17696531" "subst" "0.478532" "02327" "RAI1_000002" "g.17696531G>C" "" "" "" "RAI1(NM_030665.4):c.269G>C (p.G90A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793217G>C" "" "benign" "" "0000348231" "0" "10" "17" "17696755" "17696755" "subst" "0.441971" "02327" "RAI1_000001" "g.17696755C>A" "" "" "" "RAI1(NM_030665.4):c.493C>A (p.P165T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793441C>A" "" "benign" "" "0000349678" "0" "70" "17" "17696624" "17696624" "subst" "0" "02327" "RAI1_000077" "g.17696624G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17793310G>A" "" "likely pathogenic" "" "0000398630" "0" "70" "17" "17696875" "17696875" "del" "0" "01807" "RAI1_000085" "g.17696875del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17793561del" "" "likely pathogenic" "" "0000454353" "0" "70" "17" "17698658" "17698658" "del" "0" "01807" "RAI1_000086" "g.17698658del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17795344del" "" "likely pathogenic" "" "0000560471" "0" "30" "17" "17696401" "17696401" "subst" "0.000541478" "01804" "RAI1_000087" "g.17696401G>A" "" "" "" "RAI1(NM_030665.3):c.139G>A (p.(Ala47Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793087G>A" "" "likely benign" "" "0000560473" "0" "50" "17" "17696546" "17696546" "subst" "0.000104809" "01943" "RAI1_000089" "g.17696546C>T" "" "" "" "RAI1(NM_030665.3):c.284C>T (p.P95L), RAI1(NM_030665.4):c.284C>T (p.P95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793232C>T" "" "VUS" "" "0000560474" "0" "30" "17" "17696872" "17696872" "subst" "0.00270848" "01943" "RAI1_000014" "g.17696872C>T" "" "" "" "RAI1(NM_030665.3):c.610C>T (p.P204S, p.(Pro204Ser)), RAI1(NM_030665.4):c.610C>T (p.P204S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793558C>T" "" "likely benign" "" "0000560475" "0" "30" "17" "17696950" "17696950" "subst" "1.22818E-5" "01804" "RAI1_000090" "g.17696950G>A" "" "" "" "RAI1(NM_030665.3):c.688G>A (p.(Gly230Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793636G>A" "" "likely benign" "" "0000560476" "0" "30" "17" "17696987" "17696987" "subst" "0.00298216" "01804" "RAI1_000015" "g.17696987C>T" "" "" "" "RAI1(NM_030665.3):c.725C>T (p.P242L, p.(Pro242Leu)), RAI1(NM_030665.4):c.725C>T (p.P242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793673C>T" "" "likely benign" "" "0000560477" "0" "30" "17" "17696987" "17696987" "subst" "0.00298216" "02325" "RAI1_000015" "g.17696987C>T" "" "" "" "RAI1(NM_030665.3):c.725C>T (p.P242L, p.(Pro242Leu)), RAI1(NM_030665.4):c.725C>T (p.P242L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793673C>T" "" "likely benign" "" "0000560483" "0" "30" "17" "17697099" "17697100" "del" "0" "01804" "RAI1_000029" "g.17697099_17697100del" "" "" "" "RAI1(NM_030665.3):c.837_838delGC (p.(Gln280fs)), RAI1(NM_030665.4):c.837_838delGC (p.Q280Afs*108)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793785_17793786del" "" "likely benign" "" "0000560484" "0" "30" "17" "17697102" "17697105" "del" "0" "01804" "RAI1_000096" "g.17697102_17697105del" "" "" "" "RAI1(NM_030665.3):c.840_843del (p.(Gln280HisfsTer83)), RAI1(NM_030665.4):c.840_843delGCAG (p.Q280Hfs*83)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788_17793791del" "" "likely benign" "" "0000560486" "0" "10" "17" "17697102" "17697111" "del" "0" "02325" "RAI1_000035" "g.17697102_17697111del" "" "" "" "RAI1(NM_030665.3):c.840_849delGCAGCAGCAG (p.Q280Hfs*81), RAI1(NM_030665.4):c.840_849delGCAGCAGCAG (p.Q280Hfs*81)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788_17793797del" "" "benign" "" "0000560487" "0" "10" "17" "17697102" "17697102" "del" "0" "02326" "RAI1_000033" "g.17697102del" "" "" "" "RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788del" "" "benign" "" "0000560489" "0" "10" "17" "17697102" "17697102" "del" "0" "01943" "RAI1_000033" "g.17697102del" "" "" "" "RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788del" "" "benign" "" "0000560490" "0" "30" "17" "17697102" "17697102" "del" "0" "01804" "RAI1_000033" "g.17697102del" "" "" "" "RAI1(NM_030665.3):c.840del (p.(Gln280HisfsTer84)), RAI1(NM_030665.3):c.840delG (p.Q280Hfs*84), RAI1(NM_030665.4):c.840_843delGCAGinsCAG (p.Q280Hfs...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793788del" "" "likely benign" "" "0000560491" "0" "30" "17" "17697114" "17697134" "del" "0" "01943" "RAI1_000024" "g.17697114_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_852del (p.(Gln285_Gln291del)), RAI1(NM_030665.3):c.852_872delGCAGCAGCAGCAGCAGCAGCA (p.Q285_Q291del), RAI1(NM_030665.4):c.85..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793800_17793820del" "" "likely benign" "" "0000560492" "0" "30" "17" "17697120" "17697134" "del" "0" "01804" "RAI1_000097" "g.17697120_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_846del (p.(Gln283_Gln287del)), RAI1(NM_030665.4):c.858_872delGCAGCAGCAGCAGCA (p.Q287_Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793806_17793820del" "" "likely benign" "" "0000560493" "0" "30" "17" "17697123" "17697134" "del" "0" "01804" "RAI1_000023" "g.17697123_17697134del" "" "" "" "RAI1(NM_030665.3):c.835_846del (p.(Gln283_Gln286del)), RAI1(NM_030665.3):c.861_872delGCAGCAGCAGCA (p.Q288_Q291del), RAI1(NM_030665.4):c.861_872delG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793809_17793820del" "" "likely benign" "" "0000560495" "0" "10" "17" "17697126" "17697134" "del" "0" "01943" "RAI1_000041" "g.17697126_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793812_17793820del" "" "benign" "" "0000560496" "0" "10" "17" "17697129" "17697134" "del" "0" "01943" "RAI1_000021" "g.17697129_17697134del" "" "" "" "RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793815_17793820del" "" "benign" "" "0000560498" "0" "30" "17" "17697132" "17697134" "dup" "0" "02326" "RAI1_000084" "g.17697132_17697134dup" "" "" "" "RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793818_17793820dup" "" "likely benign" "" "0000560499" "0" "10" "17" "17697132" "17697134" "dup" "0" "01943" "RAI1_000084" "g.17697132_17697134dup" "" "" "" "RAI1(NM_030665.3):c.832_834dup (p.?), RAI1(NM_030665.3):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665.4):c.870_872dupGCA (p.Q291dup), RAI1(NM_030665...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793818_17793820dup" "" "benign" "" "0000560500" "0" "90" "17" "17697214" "17697229" "dup" "0" "02325" "RAI1_000098" "g.17697214_17697229dup" "" "" "" "RAI1(NM_030665.4):c.952_967dupGGCCAGGGCTACTGCC (p.Q323Rfs*71)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793900_17793915dup" "" "pathogenic" "" "0000560501" "0" "30" "17" "17697234" "17697234" "subst" "0.00023306" "01943" "RAI1_000099" "g.17697234G>A" "" "" "" "RAI1(NM_030665.3):c.972G>A (p.P324=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793920G>A" "" "likely benign" "" "0000560502" "0" "30" "17" "17697344" "17697344" "subst" "1.6255E-5" "02325" "RAI1_000100" "g.17697344C>T" "" "" "" "RAI1(NM_030665.3):c.1082C>T (p.S361L), RAI1(NM_030665.4):c.1082C>T (p.S361L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794030C>T" "" "likely benign" "" "0000560503" "0" "10" "17" "17697404" "17697404" "subst" "0.00376291" "01943" "RAI1_000078" "g.17697404C>T" "" "" "" "RAI1(NM_030665.3):c.1142C>T (p.A381V, p.(Ala381Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794090C>T" "" "benign" "" "0000560504" "0" "50" "17" "17697464" "17697464" "subst" "2.03262E-5" "01943" "RAI1_000101" "g.17697464C>T" "" "" "" "RAI1(NM_030665.3):c.1202C>T (p.T401M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794150C>T" "" "VUS" "" "0000560505" "0" "30" "17" "17697800" "17697800" "subst" "0.000701868" "01804" "RAI1_000102" "g.17697800A>G" "" "" "" "RAI1(NM_030665.3):c.1538A>G (p.(Gln513Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794486A>G" "" "likely benign" "" "0000560506" "0" "50" "17" "17697850" "17697850" "subst" "1.63441E-5" "01943" "RAI1_000103" "g.17697850C>T" "" "" "" "RAI1(NM_030665.3):c.1588C>T (p.L530F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794536C>T" "" "VUS" "" "0000560508" "0" "30" "17" "17698006" "17698006" "subst" "4.90585E-5" "01804" "RAI1_000105" "g.17698006G>A" "" "" "" "RAI1(NM_030665.4):c.1744G>A (p.(Asp582Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794692G>A" "" "likely benign" "" "0000560509" "0" "30" "17" "17698188" "17698188" "subst" "4.4781E-5" "01943" "RAI1_000106" "g.17698188G>A" "" "" "" "RAI1(NM_030665.3):c.1926G>A (p.S642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794874G>A" "" "likely benign" "" "0000560510" "0" "30" "17" "17698203" "17698203" "subst" "0.0002564" "02326" "RAI1_000050" "g.17698203C>T" "" "" "" "RAI1(NM_030665.3):c.1941C>T (p.S647=), RAI1(NM_030665.4):c.1941C>T (p.S647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794889C>T" "" "likely benign" "" "0000560511" "0" "30" "17" "17698263" "17698263" "subst" "9.75808E-5" "02326" "RAI1_000107" "g.17698263G>A" "" "" "" "RAI1(NM_030665.4):c.2001G>A (p.L667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794949G>A" "" "likely benign" "" "0000560512" "0" "90" "17" "17698800" "17698800" "del" "0" "01943" "RAI1_000108" "g.17698800del" "" "" "" "RAI1(NM_030665.3):c.2538delC (p.T847Pfs*103)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795486del" "" "pathogenic" "" "0000560513" "0" "30" "17" "17698931" "17698931" "subst" "8.58615E-5" "01804" "RAI1_000109" "g.17698931C>T" "" "" "" "RAI1(NM_030665.3):c.2669C>T (p.(Pro890Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795617C>T" "" "likely benign" "" "0000560514" "0" "30" "17" "17699065" "17699065" "subst" "2.44097E-5" "01943" "RAI1_000110" "g.17699065G>A" "" "" "" "RAI1(NM_030665.3):c.2803G>A (p.E935K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795751G>A" "" "likely benign" "" "0000560517" "0" "30" "17" "17699359" "17699359" "subst" "7.07514E-5" "01943" "RAI1_000112" "g.17699359C>G" "" "" "" "RAI1(NM_030665.3):c.3097C>G (p.P1033A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796045C>G" "" "likely benign" "" "0000560518" "0" "90" "17" "17699365" "17699365" "dup" "0" "02325" "RAI1_000113" "g.17699365dup" "" "" "" "RAI1(NM_030665.4):c.3103dupC (p.Q1035Pfs*31)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796051dup" "" "pathogenic" "" "0000560519" "0" "30" "17" "17700013" "17700013" "subst" "3.66312E-5" "01943" "RAI1_000114" "g.17700013G>A" "" "" "" "RAI1(NM_030665.3):c.3751G>A (p.A1251T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796699G>A" "" "likely benign" "" "0000560520" "0" "30" "17" "17700043" "17700045" "del" "0" "01943" "RAI1_000065" "g.17700043_17700045del" "" "" "" "RAI1(NM_030665.3):c.3781_3783delGAG (p.(Glu1261del)), RAI1(NM_030665.3):c.3781_3783delGAG (p.E1261del), RAI1(NM_030665.4):c.3781_3783delGAG (p.E12...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796729_17796731del" "" "likely benign" "" "0000560521" "0" "10" "17" "17700053" "17700053" "subst" "0.00169531" "01943" "RAI1_000115" "g.17700053A>G" "" "" "" "RAI1(NM_030665.3):c.3791A>G (p.E1264G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796739A>G" "" "benign" "" "0000560522" "0" "70" "17" "17700099" "17700099" "del" "0" "01943" "RAI1_000116" "g.17700099del" "" "" "" "RAI1(NM_030665.3):c.3837delC (p.K1280Sfs*35)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796785del" "" "likely pathogenic" "" "0000560523" "0" "30" "17" "17700111" "17700111" "subst" "9.80192E-5" "02326" "RAI1_000117" "g.17700111G>A" "" "" "" "RAI1(NM_030665.4):c.3849G>A (p.K1283=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796797G>A" "" "likely benign" "" "0000560524" "0" "30" "17" "17700147" "17700147" "subst" "0.000151295" "01943" "RAI1_000118" "g.17700147G>T" "" "" "" "RAI1(NM_030665.3):c.3885G>T (p.P1295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796833G>T" "" "likely benign" "" "0000560525" "0" "30" "17" "17700295" "17700295" "subst" "1.62516E-5" "01943" "RAI1_000119" "g.17700295G>T" "" "" "" "RAI1(NM_030665.3):c.4033G>T (p.A1345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796981G>T" "" "likely benign" "" "0000560526" "0" "30" "17" "17700305" "17700305" "subst" "0.000195016" "01804" "RAI1_000120" "g.17700305C>T" "" "" "" "RAI1(NM_030665.3):c.4043C>T (p.A1348V, p.(Ala1348Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796991C>T" "" "likely benign" "" "0000560527" "0" "30" "17" "17700535" "17700535" "subst" "1.22061E-5" "01943" "RAI1_000121" "g.17700535A>G" "" "" "" "RAI1(NM_030665.3):c.4273A>G (p.K1425E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797221A>G" "" "likely benign" "" "0000560528" "0" "30" "17" "17700607" "17700607" "subst" "2.87753E-5" "01804" "RAI1_000122" "g.17700607C>T" "" "" "" "RAI1(NM_030665.3):c.4345C>T (p.(Arg1449Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797293C>T" "" "likely benign" "" "0000560529" "0" "30" "17" "17700628" "17700628" "subst" "0" "01943" "RAI1_000123" "g.17700628C>A" "" "" "" "RAI1(NM_030665.3):c.4366C>A (p.H1456N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797314C>A" "" "likely benign" "" "0000560531" "0" "50" "17" "17700700" "17700700" "subst" "0.000716696" "01943" "RAI1_000125" "g.17700700A>G" "" "" "" "RAI1(NM_030665.3):c.4438A>G (p.R1480G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797386A>G" "" "VUS" "" "0000560534" "0" "30" "17" "17700893" "17700893" "subst" "0" "01943" "RAI1_000126" "g.17700893G>A" "" "" "" "RAI1(NM_030665.3):c.4631G>A (p.R1544Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797579G>A" "" "likely benign" "" "0000560535" "0" "30" "17" "17700938" "17700938" "subst" "0.000515971" "02325" "RAI1_000127" "g.17700938G>A" "" "" "" "RAI1(NM_030665.4):c.4676G>A (p.R1559Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797624G>A" "" "likely benign" "" "0000560536" "0" "30" "17" "17700955" "17700955" "subst" "0.000219398" "01804" "RAI1_000128" "g.17700955G>A" "" "" "" "RAI1(NM_030665.3):c.4693G>A (p.(Val1565Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797641G>A" "" "likely benign" "" "0000560537" "0" "30" "17" "17701079" "17701079" "subst" "2.43756E-5" "01804" "RAI1_000129" "g.17701079C>T" "" "" "" "RAI1(NM_030665.3):c.4817C>T (p.(Ala1606Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797765C>T" "" "likely benign" "" "0000560539" "0" "30" "17" "17701285" "17701285" "subst" "0.000779778" "01943" "RAI1_000131" "g.17701285G>C" "" "" "" "RAI1(NM_030665.3):c.5023G>C (p.V1675L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797971G>C" "" "likely benign" "" "0000560540" "0" "30" "17" "17701466" "17701466" "subst" "4.08463E-5" "01943" "RAI1_000132" "g.17701466C>T" "" "" "" "RAI1(NM_030665.3):c.5204C>T (p.P1735L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17798152C>T" "" "likely benign" "" "0000560546" "0" "30" "17" "17719179" "17719179" "subst" "0.000110789" "01804" "RAI1_000138" "g.17719179T>C" "" "" "" "SREBF1(NM_001005291.2):c.2468A>G (p.(Asn823Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17815865T>C" "" "likely benign" "" "0000616371" "0" "30" "17" "17696981" "17696981" "subst" "2.47027E-5" "01943" "RAI1_000142" "g.17696981C>T" "" "" "" "RAI1(NM_030665.3):c.719C>T (p.T240I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793667C>T" "" "likely benign" "" "0000616372" "0" "30" "17" "17697117" "17697134" "del" "0" "02325" "RAI1_000143" "g.17697117_17697134del" "" "" "" "RAI1(NM_030665.4):c.855_872delGCAGCAGCAGCAGCAGCA (p.Q286_Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793803_17793820del" "" "likely benign" "" "0000616373" "0" "30" "17" "17697912" "17697912" "subst" "3.66984E-5" "01943" "RAI1_000144" "g.17697912C>T" "" "" "" "RAI1(NM_030665.3):c.1650C>T (p.P550=), RAI1(NM_030665.4):c.1650C>T (p.P550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17794598C>T" "" "likely benign" "" "0000616375" "0" "30" "17" "17699943" "17699943" "subst" "8.1704E-6" "01943" "RAI1_000148" "g.17699943C>G" "" "" "" "RAI1(NM_030665.3):c.3681C>G (p.A1227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796629C>G" "" "likely benign" "" "0000616376" "0" "50" "17" "17700557" "17700557" "subst" "0.000448226" "01943" "RAI1_000150" "g.17700557C>T" "" "" "" "RAI1(NM_030665.3):c.4295C>T (p.P1432L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797243C>T" "" "VUS" "" "0000616377" "0" "30" "17" "17701442" "17701442" "subst" "0" "01804" "RAI1_000151" "g.17701442G>A" "" "" "" "RAI1(NM_030665.3):c.5180G>A (p.(Gly1727Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17798128G>A" "" "likely benign" "" "0000616379" "0" "30" "17" "17707167" "17707167" "subst" "1.62843E-5" "01943" "RAI1_000152" "g.17707167C>T" "" "" "" "RAI1(NM_030665.3):c.5659+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17803853C>T" "" "likely benign" "" "0000616380" "0" "30" "17" "17723587" "17723587" "subst" "8.13233E-6" "01943" "RAI1_000153" "g.17723587G>A" "" "" "" "SREBF1(NM_001005291.2):c.430C>T (p.P144S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17820273G>A" "" "likely benign" "" "0000623630" "0" "30" "17" "17698709" "17698709" "subst" "7.54128E-5" "02326" "RAI1_000145" "g.17698709G>T" "" "" "" "RAI1(NM_030665.4):c.2447G>T (p.G816V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795395G>T" "" "likely benign" "" "0000623631" "0" "30" "17" "17699166" "17699166" "subst" "4.89261E-5" "02326" "RAI1_000146" "g.17699166G>A" "" "" "" "RAI1(NM_030665.4):c.2904G>A (p.S968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17795852G>A" "" "likely benign" "" "0000623632" "0" "30" "17" "17699669" "17699669" "subst" "3.25661E-5" "01943" "RAI1_000147" "g.17699669C>T" "" "" "" "RAI1(NM_030665.3):c.3407C>T (p.T1136M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17796355C>T" "" "likely benign" "" "0000623633" "0" "30" "17" "17700381" "17700381" "subst" "0" "01943" "RAI1_000149" "g.17700381C>T" "" "" "" "RAI1(NM_030665.3):c.4119C>T (p.G1373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17797067C>T" "" "likely benign" "" "0000647153" "0" "90" "17" "17696624" "17696625" "ins" "0" "01807" "RAI1_000154" "g.17696624_17696625insT" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17793310_17793311insT" "" "pathogenic" "" "0000649507" "1" "50" "17" "17696371" "17696371" "subst" "8.94353E-5" "03575" "RAI1_000155" "g.17696371G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs201393598}" "Germline" "" "rs201393598" "0" "" "" "g.17793057G>A" "" "VUS" "" "0000649508" "1" "10" "17" "17697404" "17697404" "subst" "0.00376291" "03575" "RAI1_000078" "g.17697404C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs113208290}" "Germline" "" "rs113208290" "0" "" "" "g.17794090C>T" "" "benign" "" "0000653560" "0" "70" "17" "17698523" "17698526" "del" "0" "01164" "RAI1_000156" "g.17698523_17698526del" "" "" "" "" "ACMG: PVS1,PM2" "Germline" "" "" "0" "" "" "g.17795209_17795212del" "" "likely pathogenic" "ACMG" "0000658052" "0" "10" "17" "17697129" "17697134" "del" "0" "02326" "RAI1_000021" "g.17697129_17697134del" "" "" "" "RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17793815_17793820del" "" "benign" "" "0000660576" "0" "90" "17" "17698594" "17698598" "del" "0" "00006" "RAI1_000158" "g.17698594_17698598del" "" "{PMID:Redin 2014:25167861}" "" "" "" "De novo" "" "" "0" "" "" "g.17795280_17795284del" "" "pathogenic (dominant)" "" "0000680796" "0" "30" "17" "17697396" "17697396" "subst" "6.90782E-5" "02326" "RAI1_000159" "g.17697396C>T" "" "" "" "RAI1(NM_030665.4):c.1134C>T (p.S378=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680797" "0" "30" "17" "17697918" "17697918" "subst" "0.00150051" "01943" "RAI1_000160" "g.17697918C>T" "" "" "" "RAI1(NM_030665.3):c.1656C>T (p.S552=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000680798" "0" "90" "17" "17699964" "17699964" "del" "0" "02325" "RAI1_000161" "g.17699964del" "" "" "" "RAI1(NM_030665.4):c.3702delC (p.K1235Rfs*80)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000680799" "0" "30" "17" "17700029" "17700029" "subst" "1.62702E-5" "01943" "RAI1_000162" "g.17700029G>T" "" "" "" "RAI1(NM_030665.3):c.3767G>T (p.G1256V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682858" "0" "70" "17" "17696893" "17696893" "subst" "0" "01164" "RAI1_000163" "g.17696893C>T" "" "" "" "" "ACMG grading: PVS1,PM2\r\nadditinal phenotypes: Motor delay, Neurodevelopmental delay, Cognitive impairment,Abnormal aggressive, impulsive or violent behavior, Self-injurious behavior, Abnormal social behavior" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000692273" "0" "30" "17" "17696593" "17696593" "subst" "4.19104E-6" "02327" "RAI1_000164" "g.17696593C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692274" "0" "10" "17" "17697129" "17697134" "del" "0" "02325" "RAI1_000021" "g.17697129_17697134del" "" "" "" "RAI1(NM_030665.3):c.838_843del (p.(Gln282_Gln283del)), RAI1(NM_030665.3):c.867_872delGCAGCA (p.Q290_Q291del), RAI1(NM_030665.4):c.867_872delGCAGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000692275" "0" "50" "17" "17698711" "17698711" "subst" "0" "01943" "RAI1_000165" "g.17698711G>A" "" "" "" "RAI1(NM_030665.3):c.2449G>A (p.G817R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692276" "0" "30" "17" "17699912" "17699912" "subst" "0.000610136" "01943" "RAI1_000063" "g.17699912G>A" "" "" "" "RAI1(NM_030665.3):c.3650G>A (p.R1217Q, p.(Arg1217Gln)), RAI1(NM_030665.4):c.3650G>A (p.R1217Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698338" "0" "70" "17" "17700165" "17700165" "subst" "0" "00006" "RAI1_000166" "g.17700165C>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.17796851C>A" "" "likely pathogenic" "ACMG" "0000726208" "0" "90" "17" "17696625" "17696625" "subst" "0" "02329" "RAI1_000141" "g.17696625G>A" "" "" "" "RAI1(NM_030665.4):c.363G>A (p.W121*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726209" "0" "10" "17" "17697102" "17697105" "del" "0" "02325" "RAI1_000096" "g.17697102_17697105del" "" "" "" "RAI1(NM_030665.3):c.840_843del (p.(Gln280HisfsTer83)), RAI1(NM_030665.4):c.840_843delGCAG (p.Q280Hfs*83)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000726210" "0" "30" "17" "17697344" "17697344" "subst" "1.6255E-5" "01943" "RAI1_000100" "g.17697344C>T" "" "" "" "RAI1(NM_030665.3):c.1082C>T (p.S361L), RAI1(NM_030665.4):c.1082C>T (p.S361L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726211" "0" "30" "17" "17697912" "17697912" "subst" "3.66984E-5" "02326" "RAI1_000144" "g.17697912C>T" "" "" "" "RAI1(NM_030665.3):c.1650C>T (p.P550=), RAI1(NM_030665.4):c.1650C>T (p.P550=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726212" "0" "50" "17" "17697970" "17697970" "subst" "0" "02329" "RAI1_000104" "g.17697970G>C" "" "" "" "RAI1(NM_030665.4):c.1708G>C (p.D570H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726213" "0" "90" "17" "17698519" "17698519" "del" "0" "02329" "RAI1_000157" "g.17698519del" "" "" "" "RAI1(NM_030665.4):c.2257delG (p.D753Mfs*66)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726214" "0" "30" "17" "17700301" "17700301" "subst" "0.000487496" "01943" "RAI1_000167" "g.17700301A>G" "" "" "" "RAI1(NM_030665.3):c.4039A>G (p.K1347E), RAI1(NM_030665.4):c.4039A>G (p.K1347E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726215" "0" "30" "17" "17700301" "17700301" "subst" "0.000487496" "02325" "RAI1_000167" "g.17700301A>G" "" "" "" "RAI1(NM_030665.3):c.4039A>G (p.K1347E), RAI1(NM_030665.4):c.4039A>G (p.K1347E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726216" "0" "30" "17" "17700305" "17700305" "subst" "0.000195016" "01943" "RAI1_000120" "g.17700305C>T" "" "" "" "RAI1(NM_030665.3):c.4043C>T (p.A1348V, p.(Ala1348Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726217" "0" "30" "17" "17700788" "17700788" "subst" "0.00113801" "01943" "RAI1_000168" "g.17700788A>G" "" "" "" "RAI1(NM_030665.3):c.4526A>G (p.Q1509R), RAI1(NM_030665.4):c.4526A>G (p.(Gln1509Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726218" "0" "30" "17" "17701298" "17701298" "subst" "0.000580805" "02325" "RAI1_000071" "g.17701298C>T" "" "" "" "RAI1(NM_030665.3):c.5036C>T (p.A1679V), RAI1(NM_030665.4):c.5036C>T (p.A1679V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726219" "0" "30" "17" "17707156" "17707156" "subst" "0.000187117" "01943" "RAI1_000169" "g.17707156C>T" "" "" "" "RAI1(NM_030665.3):c.5652C>T (p.S1884=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000760763" "0" "90" "17" "17697130" "17697130" "subst" "0" "01807" "RAI1_000170" "g.17697130C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000763217" "1" "70" "17" "17701711" "17701711" "subst" "6.84158E-5" "00006" "RAI1_000171" "g.17701711G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PS2, PM2, PP3" "De novo" "" "" "0" "" "" "g.17798397G>A" "" "likely pathogenic" "ACMG" "0000807828" "0" "30" "17" "17697120" "17697134" "del" "0" "02325" "RAI1_000097" "g.17697120_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_846del (p.(Gln283_Gln287del)), RAI1(NM_030665.4):c.858_872delGCAGCAGCAGCAGCA (p.Q287_Q291del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807829" "0" "30" "17" "17697129" "17697134" "dup" "0" "02325" "RAI1_000016" "g.17697129_17697134dup" "" "" "" "RAI1(NM_030665.3):c.831_832insCAGCAG (p.(Asp277_Gln278insGlnGln)), RAI1(NM_030665.4):c.867_872dupGCAGCA (p.Q290_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807830" "0" "30" "17" "17698203" "17698203" "subst" "0.0002564" "01943" "RAI1_000050" "g.17698203C>T" "" "" "" "RAI1(NM_030665.3):c.1941C>T (p.S647=), RAI1(NM_030665.4):c.1941C>T (p.S647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807831" "0" "30" "17" "17698569" "17698569" "subst" "2.03145E-5" "01943" "RAI1_000172" "g.17698569G>A" "" "" "" "RAI1(NM_030665.3):c.2307G>A (p.L769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807832" "0" "30" "17" "17699777" "17699777" "subst" "8.20964E-6" "01943" "RAI1_000173" "g.17699777G>A" "" "" "" "RAI1(NM_030665.3):c.3515G>A (p.R1172H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807833" "0" "50" "17" "17700005" "17700010" "del" "0" "01943" "RAI1_000174" "g.17700005_17700010del" "" "" "" "RAI1(NM_030665.3):c.3743_3748delGCAGCA (p.S1248_S1249del), RAI1(NM_030665.4):c.3743_3748del (p.(Ser1248_Ser1249del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807834" "0" "30" "17" "17700914" "17700914" "subst" "0.000324955" "02326" "RAI1_000069" "g.17700914C>T" "" "" "" "RAI1(NM_030665.3):c.4652C>T (p.(Ser1551Leu)), RAI1(NM_030665.4):c.4652C>T (p.S1551L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807835" "0" "90" "17" "17701078" "17701088" "del" "0" "02325" "RAI1_000175" "g.17701078_17701088del" "" "" "" "RAI1(NM_030665.4):c.4816_4826delGCGTTCACCAC (p.A1606Hfs*100)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000807836" "0" "30" "17" "17701592" "17701592" "subst" "4.60507E-6" "01943" "RAI1_000133" "g.17701592C>A" "" "" "" "RAI1(NM_030665.3):c.5330C>A (p.S1777Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807837" "0" "30" "17" "17701670" "17701670" "subst" "7.03507E-5" "01943" "RAI1_000176" "g.17701670G>A" "" "" "" "RAI1(NM_030665.3):c.5408G>A (p.R1803H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000840028" "11" "70" "17" "17698166" "17698166" "subst" "0.000228095" "00006" "RAI1_000177" "g.17698166A>T" "" "{PMID:Wang 214:24597873}" "" "" "" "Germline" "yes" "rs200517965" "0" "" "" "" "" "likely pathogenic" "" "0000840029" "21" "50" "17" "17700557" "17700557" "subst" "0.000448226" "00006" "RAI1_000150" "g.17700557C>T" "" "{PMID:Wang 214:24597873}" "" "" "" "Germline" "yes" "rs201405375" "0" "" "" "" "" "VUS" "" "0000865100" "0" "70" "17" "17697211" "17697211" "subst" "0" "02326" "RAI1_000178" "g.17697211C>T" "" "" "" "RAI1(NM_030665.4):c.949C>T (p.Q317*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000865101" "0" "30" "17" "17698740" "17698740" "subst" "9.34894E-6" "01943" "RAI1_000180" "g.17698740G>A" "" "" "" "RAI1(NM_030665.3):c.2478G>A (p.L826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865102" "0" "50" "17" "17699380" "17699380" "subst" "0" "01943" "RAI1_000181" "g.17699380G>A" "" "" "" "RAI1(NM_030665.3):c.3118G>A (p.G1040R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865103" "0" "30" "17" "17699952" "17699952" "subst" "8.1714E-6" "01943" "RAI1_000182" "g.17699952G>A" "" "" "" "RAI1(NM_030665.3):c.3690G>A (p.A1230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865104" "0" "30" "17" "17701461" "17701461" "subst" "0.000538872" "01943" "RAI1_000183" "g.17701461G>A" "" "" "" "RAI1(NM_030665.3):c.5199G>A (p.S1733=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000868158" "0" "90" "17" "17698047" "17698047" "dup" "0" "01164" "RAI1_000179" "g.17698047dup" "" "" "" "" "ACMG: PVS1, PS2, PM2_SUP" "De novo" "-" "" "0" "" "" "g.17794733dup" "" "pathogenic (dominant)" "ACMG" "0000893373" "0" "30" "17" "17696363" "17696363" "subst" "7.3144E-5" "02325" "RAI1_000013" "g.17696363G>A" "" "" "" "RAI1(NM_030665.3):c.101G>A (p.S34N), RAI1(NM_030665.4):c.101G>A (p.S34N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893374" "0" "30" "17" "17697123" "17697134" "dup" "0" "02325" "RAI1_000017" "g.17697123_17697134dup" "" "" "" "RAI1(NM_030665.3):c.831_832insCAGCAGCAGCAG (p.(Asp277_Gln278insGlnGlnGlnGln)), RAI1(NM_030665.4):c.861_872dupGCAGCAGCAGCA (p.Q288_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893375" "0" "50" "17" "17699012" "17699012" "subst" "1.22277E-5" "02325" "RAI1_000184" "g.17699012C>T" "" "" "" "RAI1(NM_030665.4):c.2750C>T (p.P917L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893376" "0" "50" "17" "17700814" "17700814" "subst" "8.14213E-6" "02325" "RAI1_000185" "g.17700814C>T" "" "" "" "RAI1(NM_030665.4):c.4552C>T (p.P1518S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000893377" "0" "90" "17" "17700937" "17700937" "subst" "0" "02326" "RAI1_000186" "g.17700937C>T" "" "" "" "RAI1(NM_030665.4):c.4675C>T (p.R1559*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000893378" "0" "90" "17" "17701687" "17701687" "subst" "0" "02325" "RAI1_000187" "g.17701687A>T" "" "" "" "RAI1(NM_030665.4):c.5425A>T (p.K1809*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000918172" "0" "90" "17" "17698535" "17698535" "subst" "0" "00006" "RAI1_000188" "g.17698535G>A" "" "{PMID:Adams 2014:24863970}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000918962" "0" "90" "17" "17697107" "17697119" "del" "0" "01602" "RAI1_000189" "g.17697107_17697119del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.17793793_17793805del" "" "pathogenic" "ACMG" "0000921053" "0" "90" "17" "17698788" "17698807" "del" "0" "03544" "RAI1_000190" "g.17698788_17698807del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.17795474_17795493del" "" "pathogenic (dominant)" "ACMG" "0000921526" "0" "90" "17" "17696275" "17696275" "subst" "0" "03544" "RAI1_000191" "g.17696275C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "1679394" "pathogenic (dominant)" "ACMG" "0000926403" "0" "50" "17" "17699242" "17699242" "subst" "0" "02325" "RAI1_000192" "g.17699242C>T" "" "" "" "RAI1(NM_030665.4):c.2980C>T (p.R994W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930702" "0" "50" "17" "17713293" "17713293" "subst" "0" "02325" "RAI1_000074" "g.17713293T>C" "" "" "" "RAI1(NM_030665.3):c.5719T>C (p.(Ter1907GlnextTer1)), RAI1(NM_030665.4):c.5719T>C (p.*1907Qext*1)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931503" "0" "70" "17" "17699546" "17699546" "del" "0" "01164" "RAI1_000193" "g.17699546del" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP" "De novo" "-" "" "" "" "" "g.17796232del" "" "pathogenic (dominant)" "ACMG" "0000931672" "0" "50" "17" "17699287" "17699287" "subst" "0" "03779" "RAI1_000194" "g.17699287G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000944810" "0" "50" "17" "17701662" "17701662" "subst" "0" "03779" "RAI1_000195" "g.17701662C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000950806" "0" "70" "17" "17696749" "17696749" "subst" "0" "02329" "RAI1_000196" "g.17696749C>T" "" "" "" "RAI1(NM_030665.4):c.487C>T (p.Q163*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950807" "0" "50" "17" "17697098" "17697099" "ins" "0" "02325" "RAI1_000197" "g.17697098_17697099insACAGCAGCA" "" "" "" "RAI1(NM_030665.4):c.836_837insACAGCAGCA (p.Q289_Q291dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950808" "0" "50" "17" "17697389" "17697389" "subst" "1.21905E-5" "02325" "RAI1_000198" "g.17697389C>T" "" "" "" "RAI1(NM_030665.4):c.1127C>T (p.P376L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950809" "0" "50" "17" "17700278" "17700278" "subst" "0" "02329" "RAI1_000199" "g.17700278C>G" "" "" "" "RAI1(NM_030665.4):c.4016C>G (p.P1339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968710" "0" "30" "17" "17697126" "17697134" "del" "0" "02326" "RAI1_000022" "g.17697126_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_840del (p.(Gln281_Gln283del)), RAI1(NM_030665.3):c.864_872delGCAGCAGCA (p.Q289_Q291del), RAI1(NM_030665.4):c.864_872delGCAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982344" "0" "50" "17" "17697667" "17697667" "subst" "0" "01804" "RAI1_000201" "g.17697667G>C" "" "" "" "RAI1(NM_030665.4):c.1405G>C (p.(Val469Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982345" "0" "30" "17" "17699912" "17699912" "subst" "0.000610136" "01804" "RAI1_000063" "g.17699912G>A" "" "" "" "RAI1(NM_030665.3):c.3650G>A (p.R1217Q, p.(Arg1217Gln)), RAI1(NM_030665.4):c.3650G>A (p.R1217Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982346" "0" "50" "17" "17700089" "17700089" "subst" "0" "02325" "RAI1_000202" "g.17700089C>T" "" "" "" "RAI1(NM_030665.4):c.3827C>T (p.P1276L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982347" "0" "70" "17" "17700199" "17700199" "del" "0" "01804" "RAI1_000203" "g.17700199del" "" "" "" "RAI1(NM_030665.3):c.3937delG (p.(Ala1313fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982348" "0" "30" "17" "17700944" "17700944" "subst" "1.21887E-5" "01804" "RAI1_000204" "g.17700944G>A" "" "" "" "RAI1(NM_030665.4):c.4682G>A (p.(Arg1561Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002983" "0" "30" "17" "17696485" "17696485" "subst" "0.00119557" "01804" "RAI1_000205" "g.17696485G>T" "" "" "" "RAI1(NM_030665.3):c.223G>T (p.(Ala75Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002984" "0" "30" "17" "17696566" "17696566" "subst" "2.10745E-5" "01804" "RAI1_000206" "g.17696566G>A" "" "" "" "RAI1(NM_030665.3):c.304G>A (p.(Val102Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002985" "0" "30" "17" "17696977" "17696977" "subst" "0" "01804" "RAI1_000208" "g.17696977T>A" "" "" "" "RAI1(NM_030665.3):c.715T>A (p.(Cys239Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002986" "0" "30" "17" "17696992" "17696992" "subst" "0" "01804" "RAI1_000209" "g.17696992G>A" "" "" "" "RAI1(NM_030665.3):c.730G>A (p.(Ala244Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002987" "0" "30" "17" "17697023" "17697023" "subst" "0" "01804" "RAI1_000210" "g.17697023G>T" "" "" "" "RAI1(NM_030665.3):c.761G>T (p.(Ser254Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002988" "0" "30" "17" "17697058" "17697058" "subst" "3.32325E-5" "01804" "RAI1_000211" "g.17697058C>T" "" "" "" "RAI1(NM_030665.3):c.796C>T (p.(Leu266Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002989" "0" "30" "17" "17697304" "17697304" "subst" "1.62693E-5" "01804" "RAI1_000212" "g.17697304C>T" "" "" "" "RAI1(NM_030665.3):c.1042C>T (p.(Arg348Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002990" "0" "30" "17" "17697394" "17697394" "subst" "8.12645E-6" "01804" "RAI1_000213" "g.17697394A>G" "" "" "" "RAI1(NM_030665.3):c.1132A>G (p.(Ser378Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002991" "0" "30" "17" "17697395" "17697395" "subst" "3.25084E-5" "01804" "RAI1_000214" "g.17697395G>C" "" "" "" "RAI1(NM_030665.3):c.1133G>C (p.(Ser378Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002992" "0" "30" "17" "17697404" "17697404" "subst" "0.00376291" "01804" "RAI1_000078" "g.17697404C>T" "" "" "" "RAI1(NM_030665.3):c.1142C>T (p.A381V, p.(Ala381Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002993" "0" "30" "17" "17698117" "17698117" "subst" "1.63321E-5" "01804" "RAI1_000215" "g.17698117G>A" "" "" "" "RAI1(NM_030665.3):c.1855G>A (p.(Gly619Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002994" "0" "30" "17" "17698207" "17698207" "subst" "0" "01804" "RAI1_000216" "g.17698207T>A" "" "" "" "RAI1(NM_030665.3):c.1945T>A (p.(Cys649Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002995" "0" "30" "17" "17698750" "17698750" "subst" "2.85744E-5" "01804" "RAI1_000217" "g.17698750G>A" "" "" "" "RAI1(NM_030665.3):c.2488G>A (p.(Glu830Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002996" "0" "30" "17" "17698852" "17698852" "subst" "8.8795E-6" "01804" "RAI1_000218" "g.17698852G>A" "" "" "" "RAI1(NM_030665.3):c.2590G>A (p.(Asp864Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002997" "0" "50" "17" "17699081" "17699081" "subst" "0" "01804" "RAI1_000219" "g.17699081G>A" "" "" "" "RAI1(NM_030665.3):c.2819G>A (p.(Ser940Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002998" "0" "50" "17" "17699351" "17699351" "subst" "0" "01804" "RAI1_000220" "g.17699351G>A" "" "" "" "RAI1(NM_030665.3):c.3089G>A (p.(Cys1030Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002999" "0" "30" "17" "17699404" "17699404" "subst" "0" "01804" "RAI1_000221" "g.17699404G>A" "" "" "" "RAI1(NM_030665.3):c.3142G>A (p.(Ala1048Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003000" "0" "30" "17" "17700157" "17700157" "subst" "3.26627E-5" "01804" "RAI1_000222" "g.17700157G>A" "" "" "" "RAI1(NM_030665.3):c.3895G>A (p.(Asp1299Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003001" "0" "30" "17" "17700373" "17700373" "subst" "4.06375E-6" "01804" "RAI1_000223" "g.17700373G>A" "" "" "" "RAI1(NM_030665.3):c.4111G>A (p.(Ala1371Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003002" "0" "30" "17" "17700629" "17700629" "subst" "0" "01804" "RAI1_000224" "g.17700629A>C" "" "" "" "RAI1(NM_030665.3):c.4367A>C (p.(His1456Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003003" "0" "30" "17" "17700739" "17700739" "subst" "0" "01804" "RAI1_000225" "g.17700739G>A" "" "" "" "RAI1(NM_030665.3):c.4477G>A (p.(Gly1493Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003004" "0" "30" "17" "17707167" "17707167" "subst" "1.62843E-5" "01804" "RAI1_000152" "g.17707167C>T" "" "" "" "RAI1(NM_030665.3):c.5659+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003005" "0" "30" "17" "17712761" "17712761" "subst" "0" "01804" "RAI1_000226" "g.17712761A>G" "" "" "" "RAI1(NM_030665.3):c.5709+8A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003006" "0" "30" "17" "17720642" "17720642" "subst" "0" "01804" "RAI1_000227" "g.17720642G>C" "" "" "" "SREBF1(NM_004176.4):c.1534C>G (p.(Leu512Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007050" "0" "90" "17" "17696629" "17696629" "dup" "0" "03779" "RAI1_000207" "g.17696629dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0001015477" "0" "50" "17" "17696546" "17696546" "subst" "0.000104809" "02325" "RAI1_000089" "g.17696546C>T" "" "" "" "RAI1(NM_030665.3):c.284C>T (p.P95L), RAI1(NM_030665.4):c.284C>T (p.P95L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001023417" "0" "70" "17" "17697622" "17697637" "dup" "0" "03544" "RAI1_000228" "g.17697622_17697637dup" "" "" "" "" "" "De novo" "?" "" "0" "" "" "g.17794308_17794323dup" "{CV:3912068}" "likely pathogenic" "ACMG" "0001026823" "0" "50" "17" "17697849" "17697849" "subst" "4.08637E-6" "02325" "RAI1_000229" "g.17697849C>G" "" "" "" "RAI1(NM_030665.4):c.1587C>G (p.F529L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026824" "0" "30" "17" "17701711" "17701711" "subst" "6.84158E-5" "02325" "RAI1_000171" "g.17701711G>A" "" "" "" "RAI1(NM_030665.4):c.5449G>A (p.G1817R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041657" "0" "30" "17" "17697099" "17697099" "subst" "0" "01804" "RAI1_000007" "g.17697099G>A" "" "" "" "RAI1(NM_030665.4):c.837G>A (p.(Gln279=)), RAI1(NM_030665.4):c.837_838delGCinsAC (p.Q279_Q280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041658" "0" "50" "17" "17697108" "17697134" "del" "0" "01804" "RAI1_000230" "g.17697108_17697134del" "" "" "" "RAI1(NM_030665.4):c.846_872del (p.(Gln283_Gln291del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041659" "0" "30" "17" "17698375" "17698375" "subst" "0" "01804" "RAI1_000231" "g.17698375C>T" "" "" "" "RAI1(NM_030665.4):c.2113C>T (p.(Pro705Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041660" "0" "30" "17" "17699220" "17699220" "subst" "8.26932E-6" "01804" "RAI1_000232" "g.17699220C>T" "" "" "" "RAI1(NM_030665.4):c.2958C>T (p.(Ile986=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041661" "0" "10" "17" "17700005" "17700010" "del" "0" "01804" "RAI1_000174" "g.17700005_17700010del" "" "" "" "RAI1(NM_030665.3):c.3743_3748delGCAGCA (p.S1248_S1249del), RAI1(NM_030665.4):c.3743_3748del (p.(Ser1248_Ser1249del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001041662" "0" "30" "17" "17700788" "17700788" "subst" "0.00113801" "01804" "RAI1_000168" "g.17700788A>G" "" "" "" "RAI1(NM_030665.3):c.4526A>G (p.Q1509R), RAI1(NM_030665.4):c.4526A>G (p.(Gln1509Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041663" "0" "30" "17" "17717013" "17717013" "subst" "0.00196176" "01804" "RAI1_000233" "g.17717013G>A" "" "" "" "SREBF1(NM_004176.5):c.2972C>T (p.(Pro991Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041664" "0" "50" "17" "17740083" "17740083" "subst" "0" "01804" "RAI1_000234" "g.17740083C>A" "" "" "" "SREBF1(NM_004176.5):c.49G>T (p.(Glu17Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046597" "0" "50" "17" "17697114" "17697134" "del" "0" "02325" "RAI1_000024" "g.17697114_17697134del" "" "" "" "RAI1(NM_030665.3):c.832_852del (p.(Gln285_Gln291del)), RAI1(NM_030665.3):c.852_872delGCAGCAGCAGCAGCAGCAGCA (p.Q285_Q291del), RAI1(NM_030665.4):c.85..." "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 RAI1 ## Count = 264 "{{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}}" "0000000669" "00000081" "50" "493" "0" "493" "0" "c.493C>A" "r.(?)" "p.(Pro165Thr)" "3" "0000005675" "00000081" "50" "269" "0" "269" "0" "c.269G>C" "r.(?)" "p.(Gly90Ala)" "3" "0000013646" "00000081" "50" "-17" "27069" "-17" "27069" "c.-17+27069C>G" "r.(=)" "p.(=)" "" "0000040325" "00000081" "90" "262" "0" "262" "0" "c.262C>T" "r.(?)" "p.(Gln88*)" "1" "0000046796" "00000081" "30" "998" "0" "999" "0" "c.998_999insAGT" "r.(?)" "p.(Gln333_Tyr334insVal)" "3" "0000063830" "00000081" "10" "5601" "0" "5601" "0" "c.5601T>C" "r.(?)" "p.(=)" "4" "0000063831" "00000081" "10" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(=)" "3" "0000063832" "00000081" "10" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(=)" "3" "0000063833" "00000081" "10" "493" "0" "493" "0" "c.493C>A" "r.(?)" "p.(Pro165Thr)" "3" "0000063834" "00000081" "10" "4530" "0" "4530" "0" "c.4530C>T" "r.(?)" "p.(=)" "3" "0000063835" "00000081" "10" "4311" "0" "4311" "0" "c.4311T>C" "r.(?)" "p.(=)" "3" "0000063836" "00000081" "10" "269" "0" "269" "0" "c.269G>C" "r.(?)" "p.(Gly90Ala)" "3" "0000063837" "00000081" "10" "187" "0" "187" "0" "c.187G>A" "r.(?)" "p.(Ala63Thr)" "3" "0000063838" "00000081" "10" "870" "0" "872" "0" "c.870_872del" "r.(?)" "p.(Gln291del)" "3" "0000079015" "00000081" "70" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_6_" "0000249471" "00000081" "30" "870" "0" "872" "0" "c.870_872dup" "r.(?)" "p.(Gln291dup)" "" "0000254582" "00000081" "30" "2776" "0" "2776" "0" "c.2776A>G" "r.(?)" "p.(Ile926Val)" "" "0000297541" "00000081" "30" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Ser647=)" "" "0000297542" "00000081" "10" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Pro664=)" "" "0000297543" "00000081" "50" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Pro684Ser)" "" "0000297544" "00000081" "10" "269" "0" "269" "0" "c.269G>C" "r.(?)" "p.(Gly90Ala)" "" "0000297545" "00000081" "50" "2908" "0" "2908" "0" "c.2908G>A" "r.(?)" "p.(Ala970Thr)" "" "0000297547" "00000081" "30" "3781" "0" "3783" "0" "c.3781_3783del" "r.(?)" "p.(Glu1261del)" "" "0000297548" "00000081" "10" "4512" "0" "4512" "0" "c.4512G>T" "r.(?)" "p.(Leu1504=)" "" "0000297549" "00000081" "50" "4591" "0" "4591" "0" "c.4591T>C" "r.(?)" "p.(Tyr1531His)" "" "0000297550" "00000081" "10" "493" "0" "493" "0" "c.493C>A" "r.(?)" "p.(Pro165Thr)" "" "0000297551" "00000081" "10" "5601" "0" "5601" "0" "c.5601T>C" "r.(?)" "p.(Ile1867=)" "" "0000297552" "00000081" "30" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Pro204Ser)" "" "0000297553" "00000081" "10" "837" "0" "838" "0" "c.837_838del" "r.(?)" "p.(Gln280AlafsTer108)" "" "0000297554" "00000081" "10" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Gln279=)" "" "0000297555" "00000081" "10" "840" "0" "840" "0" "c.840del" "r.(?)" "p.(Gln280HisfsTer84)" "" "0000297556" "00000081" "10" "861" "0" "872" "0" "c.861_872del" "r.(?)" "p.(Gln288_Gln291del)" "" "0000297557" "00000081" "10" "864" "0" "872" "0" "c.864_872del" "r.(?)" "p.(Gln289_Gln291del)" "" "0000297558" "00000081" "10" "870" "0" "872" "0" "c.870_872del" "r.(?)" "p.(Gln291del)" "" "0000299243" "00000081" "50" "1810" "0" "1810" "0" "c.1810C>T" "r.(?)" "p.(Gln604Ter)" "" "0000299244" "00000081" "90" "2461" "0" "2461" "0" "c.2461del" "r.(?)" "p.(Glu821ArgfsTer129)" "" "0000301350" "00000081" "90" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Gln475Ter)" "" "0000301351" "00000081" "30" "3650" "0" "3650" "0" "c.3650G>A" "r.(?)" "p.(Arg1217Gln)" "" "0000301352" "00000081" "30" "861" "0" "872" "0" "c.861_872del" "r.(?)" "p.(Gln288_Gln291del)" "" "0000301353" "00000081" "30" "870" "0" "872" "0" "c.870_872del" "r.(?)" "p.(Gln291del)" "" "0000306736" "00000081" "30" "101" "0" "101" "0" "c.101G>A" "r.(?)" "p.(Ser34Asn)" "" "0000306737" "00000081" "30" "1150" "0" "1150" "0" "c.1150G>A" "r.(?)" "p.(Ala384Thr)" "" "0000306738" "00000081" "30" "1279" "0" "1279" "0" "c.1279C>T" "r.(?)" "p.(Leu427=)" "" "0000306739" "00000081" "10" "1326" "0" "1326" "0" "c.1326G>A" "r.(?)" "p.(Val442=)" "" "0000306740" "00000081" "10" "1500" "0" "1500" "0" "c.1500G>A" "r.(?)" "p.(Pro500=)" "" "0000306741" "00000081" "10" "2907" "0" "2907" "0" "c.2907C>T" "r.(?)" "p.(Asp969=)" "" "0000306742" "00000081" "30" "3357" "0" "3357" "0" "c.3357C>T" "r.(?)" "p.(Ser1119=)" "" "0000306743" "00000081" "50" "4051" "0" "4051" "0" "c.4051G>T" "r.(?)" "p.(Ala1351Ser)" "" "0000306744" "00000081" "10" "4512" "0" "4512" "0" "c.4512G>T" "r.(?)" "p.(Leu1504=)" "" "0000306745" "00000081" "50" "4855" "0" "4855" "0" "c.4855G>T" "r.(?)" "p.(Asp1619Tyr)" "" "0000306746" "00000081" "30" "5036" "0" "5036" "0" "c.5036C>T" "r.(?)" "p.(Ala1679Val)" "" "0000306747" "00000081" "30" "5602" "0" "5602" "0" "c.5602G>A" "r.(?)" "p.(Gly1868Arg)" "" "0000306748" "00000081" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Pro242Leu)" "" "0000306749" "00000081" "10" "840" "0" "849" "0" "c.840_849del" "r.(?)" "p.(Gln280HisfsTer81)" "" "0000306750" "00000081" "10" "840" "0" "840" "0" "c.840G>A" "r.(?)" "p.(Gln280=)" "" "0000306751" "00000081" "30" "861" "0" "872" "0" "c.861_872del" "r.(?)" "p.(Gln288_Gln291del)" "" "0000306752" "00000081" "10" "870" "0" "872" "0" "c.870_872del" "r.(?)" "p.(Gln291del)" "" "0000325234" "00000081" "30" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Pro204Ser)" "" "0000325235" "00000081" "50" "867" "0" "872" "0" "c.867_872dup" "r.(?)" "p.(Gln290_Gln291dup)" "" "0000325236" "00000081" "50" "861" "0" "872" "0" "c.861_872dup" "r.(?)" "p.(Gln288_Gln291dup)" "" "0000325239" "00000081" "50" "870" "0" "872" "0" "c.870_872dup" "r.(?)" "p.(Gln291dup)" "" "0000325242" "00000081" "50" "867" "0" "872" "0" "c.867_872del" "r.(?)" "p.(Gln290_Gln291del)" "" "0000325244" "00000081" "50" "864" "0" "872" "0" "c.864_872del" "r.(?)" "p.(Gln289_Gln291del)" "" "0000325245" "00000081" "50" "852" "0" "872" "0" "c.852_872del" "r.(?)" "p.(Gln285_Gln291del)" "" "0000325250" "00000081" "50" "870" "0" "872" "0" "c.870_872del" "r.(?)" "p.(Gln291del)" "" "0000325262" "00000081" "50" "2282" "0" "2282" "0" "c.2282A>C" "r.(?)" "p.(His761Pro)" "" "0000325264" "00000081" "50" "3253" "0" "3253" "0" "c.3253G>C" "r.(?)" "p.(Gly1085Arg)" "" "0000325265" "00000081" "50" "3509" "0" "3509" "0" "c.3509A>G" "r.(?)" "p.(Asn1170Ser)" "" "0000325266" "00000081" "30" "3781" "0" "3783" "0" "c.3781_3783del" "r.(?)" "p.(Glu1261del)" "" "0000325268" "00000081" "50" "4652" "0" "4652" "0" "c.4652C>T" "r.(?)" "p.(Ser1551Leu)" "" "0000325269" "00000081" "50" "4855" "0" "4855" "0" "c.4855G>T" "r.(?)" "p.(Asp1619Tyr)" "" "0000325270" "00000081" "50" "5623" "0" "5623" "0" "c.5623C>T" "r.(?)" "p.(Leu1875Phe)" "" "0000325271" "00000081" "50" "5719" "0" "5719" "0" "c.5719T>C" "r.(?)" "p.(Ter1907GlnextTer1)" "" "0000325272" "00000081" "50" "10572" "0" "10572" "0" "c.*4851C>A" "r.(=)" "p.(=)" "" "0000337359" "00000081" "30" "-216" "0" "-216" "0" "c.-216A>C" "r.(?)" "p.(=)" "" "0000339555" "00000081" "10" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Gln279=)" "" "0000339556" "00000081" "10" "1992" "0" "1992" "0" "c.1992G>A" "r.(?)" "p.(Pro664=)" "" "0000339557" "00000081" "10" "5601" "0" "5601" "0" "c.5601T>C" "r.(?)" "p.(Ile1867=)" "" "0000341117" "00000081" "50" "3341" "0" "3341" "0" "c.3341C>T" "r.(?)" "p.(Ala1114Val)" "" "0000341193" "00000081" "50" "4711" "0" "4711" "0" "c.4711G>A" "r.(?)" "p.(Ala1571Thr)" "" "0000341416" "00000081" "10" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Ala381Val)" "" "0000342012" "00000081" "70" "4810" "0" "4810" "0" "c.4810C>T" "r.(?)" "p.(Arg1604Ter)" "" "0000346320" "00000081" "10" "269" "0" "269" "0" "c.269G>C" "r.(?)" "p.(Gly90Ala)" "" "0000348231" "00000081" "10" "493" "0" "493" "0" "c.493C>A" "r.(?)" "p.(Pro165Thr)" "" "0000349678" "00000081" "70" "362" "0" "362" "0" "c.362G>A" "r.(?)" "p.(Trp121Ter)" "" "0000398630" "00000081" "70" "613" "0" "613" "0" "c.613del" "r.(?)" "p.(Gln205Argfs*47)" "" "0000454353" "00000081" "70" "2396" "0" "2396" "0" "c.2396del" "r.(?)" "p.(Pro799Leufs*20)" "" "0000560471" "00000081" "30" "139" "0" "139" "0" "c.139G>A" "r.(?)" "p.(Ala47Thr)" "" "0000560473" "00000081" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "" "0000560474" "00000081" "30" "610" "0" "610" "0" "c.610C>T" "r.(?)" "p.(Pro204Ser)" "" "0000560475" "00000081" "30" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Gly230Arg)" "" "0000560476" "00000081" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Pro242Leu)" "" "0000560477" "00000081" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Pro242Leu)" "" "0000560483" "00000081" "30" "837" "0" "838" "0" "c.837_838del" "r.(?)" "p.(Gln280AlafsTer108)" "" "0000560484" "00000081" "30" "840" "0" "843" "0" "c.840_843del" "r.(?)" "p.(Gln280HisfsTer83)" "" "0000560486" "00000081" "10" "840" "0" "849" "0" "c.840_849del" "r.(?)" "p.(Gln280HisfsTer81)" "" "0000560487" "00000081" "10" "840" "0" "840" "0" "c.840del" "r.(?)" "p.(Gln280HisfsTer84)" "" "0000560489" "00000081" "10" "840" "0" "840" "0" "c.840del" "r.(?)" "p.(Gln280HisfsTer84)" "" "0000560490" "00000081" "30" "840" "0" "840" "0" "c.840del" "r.(?)" "p.(Gln280HisfsTer84)" "" "0000560491" "00000081" "30" "852" "0" "872" "0" "c.852_872del" "r.(?)" "p.(Gln285_Gln291del)" "" "0000560492" "00000081" "30" "858" "0" "872" "0" "c.858_872del" "r.(?)" "p.(Gln287_Gln291del)" "" "0000560493" "00000081" "30" "861" "0" "872" "0" "c.861_872del" "r.(?)" "p.(Gln288_Gln291del)" "" "0000560495" "00000081" "10" "864" "0" "872" "0" "c.864_872del" "r.(?)" "p.(Gln289_Gln291del)" "" "0000560496" "00000081" "10" "867" "0" "872" "0" "c.867_872del" "r.(?)" "p.(Gln290_Gln291del)" "" "0000560498" "00000081" "30" "870" "0" "872" "0" "c.870_872dup" "r.(?)" "p.(Gln291dup)" "" "0000560499" "00000081" "10" "870" "0" "872" "0" "c.870_872dup" "r.(?)" "p.(Gln291dup)" "" "0000560500" "00000081" "90" "952" "0" "967" "0" "c.952_967dup" "r.(?)" "p.(Gln323ArgfsTer71)" "" "0000560501" "00000081" "30" "972" "0" "972" "0" "c.972G>A" "r.(?)" "p.(Pro324=)" "" "0000560502" "00000081" "30" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Ser361Leu)" "" "0000560503" "00000081" "10" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Ala381Val)" "" "0000560504" "00000081" "50" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Thr401Met)" "" "0000560505" "00000081" "30" "1538" "0" "1538" "0" "c.1538A>G" "r.(?)" "p.(Gln513Arg)" "" "0000560506" "00000081" "50" "1588" "0" "1588" "0" "c.1588C>T" "r.(?)" "p.(Leu530Phe)" "" "0000560508" "00000081" "30" "1744" "0" "1744" "0" "c.1744G>A" "r.(?)" "p.(Asp582Asn)" "" "0000560509" "00000081" "30" "1926" "0" "1926" "0" "c.1926G>A" "r.(?)" "p.(Ser642=)" "" "0000560510" "00000081" "30" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Ser647=)" "" "0000560511" "00000081" "30" "2001" "0" "2001" "0" "c.2001G>A" "r.(?)" "p.(Leu667=)" "" "0000560512" "00000081" "90" "2538" "0" "2538" "0" "c.2538del" "r.(?)" "p.(Thr847ProfsTer103)" "" "0000560513" "00000081" "30" "2669" "0" "2669" "0" "c.2669C>T" "r.(?)" "p.(Pro890Leu)" "" "0000560514" "00000081" "30" "2803" "0" "2803" "0" "c.2803G>A" "r.(?)" "p.(Glu935Lys)" "" "0000560517" "00000081" "30" "3097" "0" "3097" "0" "c.3097C>G" "r.(?)" "p.(Pro1033Ala)" "" "0000560518" "00000081" "90" "3103" "0" "3103" "0" "c.3103dup" "r.(?)" "p.(Gln1035ProfsTer31)" "" "0000560519" "00000081" "30" "3751" "0" "3751" "0" "c.3751G>A" "r.(?)" "p.(Ala1251Thr)" "" "0000560520" "00000081" "30" "3781" "0" "3783" "0" "c.3781_3783del" "r.(?)" "p.(Glu1261del)" "" "0000560521" "00000081" "10" "3791" "0" "3791" "0" "c.3791A>G" "r.(?)" "p.(Glu1264Gly)" "" "0000560522" "00000081" "70" "3837" "0" "3837" "0" "c.3837del" "r.(?)" "p.(Lys1280SerfsTer35)" "" "0000560523" "00000081" "30" "3849" "0" "3849" "0" "c.3849G>A" "r.(?)" "p.(Lys1283=)" "" "0000560524" "00000081" "30" "3885" "0" "3885" "0" "c.3885G>T" "r.(?)" "p.(Pro1295=)" "" "0000560525" "00000081" "30" "4033" "0" "4033" "0" "c.4033G>T" "r.(?)" "p.(Ala1345Ser)" "" "0000560526" "00000081" "30" "4043" "0" "4043" "0" "c.4043C>T" "r.(?)" "p.(Ala1348Val)" "" "0000560527" "00000081" "30" "4273" "0" "4273" "0" "c.4273A>G" "r.(?)" "p.(Lys1425Glu)" "" "0000560528" "00000081" "30" "4345" "0" "4345" "0" "c.4345C>T" "r.(?)" "p.(Arg1449Trp)" "" "0000560529" "00000081" "30" "4366" "0" "4366" "0" "c.4366C>A" "r.(?)" "p.(His1456Asn)" "" "0000560531" "00000081" "50" "4438" "0" "4438" "0" "c.4438A>G" "r.(?)" "p.(Arg1480Gly)" "" "0000560534" "00000081" "30" "4631" "0" "4631" "0" "c.4631G>A" "r.(?)" "p.(Arg1544Gln)" "" "0000560535" "00000081" "30" "4676" "0" "4676" "0" "c.4676G>A" "r.(?)" "p.(Arg1559Gln)" "" "0000560536" "00000081" "30" "4693" "0" "4693" "0" "c.4693G>A" "r.(?)" "p.(Val1565Met)" "" "0000560537" "00000081" "30" "4817" "0" "4817" "0" "c.4817C>T" "r.(?)" "p.(Ala1606Val)" "" "0000560539" "00000081" "30" "5023" "0" "5023" "0" "c.5023G>C" "r.(?)" "p.(Val1675Leu)" "" "0000560540" "00000081" "30" "5204" "0" "5204" "0" "c.5204C>T" "r.(?)" "p.(Pro1735Leu)" "" "0000560546" "00000081" "30" "11605" "0" "11605" "0" "c.*5884T>C" "r.(=)" "p.(=)" "" "0000616371" "00000081" "30" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Thr240Ile)" "" "0000616372" "00000081" "30" "855" "0" "872" "0" "c.855_872del" "r.(?)" "p.(Gln286_Gln291del)" "" "0000616373" "00000081" "30" "1650" "0" "1650" "0" "c.1650C>T" "r.(?)" "p.(Pro550=)" "" "0000616375" "00000081" "30" "3681" "0" "3681" "0" "c.3681C>G" "r.(?)" "p.(Ala1227=)" "" "0000616376" "00000081" "50" "4295" "0" "4295" "0" "c.4295C>T" "r.(?)" "p.(Pro1432Leu)" "" "0000616377" "00000081" "30" "5180" "0" "5180" "0" "c.5180G>A" "r.(?)" "p.(Gly1727Asp)" "" "0000616379" "00000081" "30" "5659" "4" "5659" "4" "c.5659+4C>T" "r.spl?" "p.?" "" "0000616380" "00000081" "30" "16013" "0" "16013" "0" "c.*10292G>A" "r.(=)" "p.(=)" "" "0000623630" "00000081" "30" "2447" "0" "2447" "0" "c.2447G>T" "r.(?)" "p.(Gly816Val)" "" "0000623631" "00000081" "30" "2904" "0" "2904" "0" "c.2904G>A" "r.(?)" "p.(Ser968=)" "" "0000623632" "00000081" "30" "3407" "0" "3407" "0" "c.3407C>T" "r.(?)" "p.(Thr1136Met)" "" "0000623633" "00000081" "30" "4119" "0" "4119" "0" "c.4119C>T" "r.(?)" "p.(Gly1373=)" "" "0000647153" "00000081" "90" "362" "0" "363" "0" "c.362_363insT" "r.(?)" "p.(Trp121Cysfs*22)" "" "0000649507" "00000081" "50" "109" "0" "109" "0" "c.109G>A" "r.(?)" "p.(Gly37Arg)" "" "0000649508" "00000081" "10" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Ala381Val)" "" "0000653560" "00000081" "70" "2261" "0" "2264" "0" "c.2261_2264del" "r.(?)" "p.(Ala754ValfsTer64)" "" "0000658052" "00000081" "10" "867" "0" "872" "0" "c.867_872del" "r.(?)" "p.(Gln290_Gln291del)" "" "0000660576" "00000081" "90" "2332" "0" "2336" "0" "c.2332_2336del" "r.(?)" "p.(Gly778Glnfs*7)" "" "0000680796" "00000081" "30" "1134" "0" "1134" "0" "c.1134C>T" "r.(?)" "p.(Ser378=)" "" "0000680797" "00000081" "30" "1656" "0" "1656" "0" "c.1656C>T" "r.(?)" "p.(Ser552=)" "" "0000680798" "00000081" "90" "3702" "0" "3702" "0" "c.3702del" "r.(?)" "p.(Lys1235ArgfsTer80)" "" "0000680799" "00000081" "30" "3767" "0" "3767" "0" "c.3767G>T" "r.(?)" "p.(Gly1256Val)" "" "0000682858" "00000081" "70" "631" "0" "631" "0" "c.631C>T" "r.(?)" "p.(Gln211*)" "" "0000692273" "00000081" "30" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Cys)" "" "0000692274" "00000081" "10" "867" "0" "872" "0" "c.867_872del" "r.(?)" "p.(Gln290_Gln291del)" "" "0000692275" "00000081" "50" "2449" "0" "2449" "0" "c.2449G>A" "r.(?)" "p.(Gly817Arg)" "" "0000692276" "00000081" "30" "3650" "0" "3650" "0" "c.3650G>A" "r.(?)" "p.(Arg1217Gln)" "" "0000698338" "00000081" "70" "3903" "0" "3903" "0" "c.3903C>A" "r.(?)" "p.(Cys1301* )" "3" "0000726208" "00000081" "90" "363" "0" "363" "0" "c.363G>A" "r.(?)" "p.(Trp121Ter)" "" "0000726209" "00000081" "10" "840" "0" "843" "0" "c.840_843del" "r.(?)" "p.(Gln280HisfsTer83)" "" "0000726210" "00000081" "30" "1082" "0" "1082" "0" "c.1082C>T" "r.(?)" "p.(Ser361Leu)" "" "0000726211" "00000081" "30" "1650" "0" "1650" "0" "c.1650C>T" "r.(?)" "p.(Pro550=)" "" "0000726212" "00000081" "50" "1708" "0" "1708" "0" "c.1708G>C" "r.(?)" "p.(Asp570His)" "" "0000726213" "00000081" "90" "2257" "0" "2257" "0" "c.2257del" "r.(?)" "p.(Asp753MetfsTer66)" "" "0000726214" "00000081" "30" "4039" "0" "4039" "0" "c.4039A>G" "r.(?)" "p.(Lys1347Glu)" "" "0000726215" "00000081" "30" "4039" "0" "4039" "0" "c.4039A>G" "r.(?)" "p.(Lys1347Glu)" "" "0000726216" "00000081" "30" "4043" "0" "4043" "0" "c.4043C>T" "r.(?)" "p.(Ala1348Val)" "" "0000726217" "00000081" "30" "4526" "0" "4526" "0" "c.4526A>G" "r.(?)" "p.(Gln1509Arg)" "" "0000726218" "00000081" "30" "5036" "0" "5036" "0" "c.5036C>T" "r.(?)" "p.(Ala1679Val)" "" "0000726219" "00000081" "30" "5652" "0" "5652" "0" "c.5652C>T" "r.(?)" "p.(Ser1884=)" "" "0000760763" "00000081" "90" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Gln290Ter)" "" "0000763217" "00000081" "70" "5449" "0" "5449" "0" "c.5449G>A" "r.(?)" "p.(Gly1817Arg)" "" "0000807828" "00000081" "30" "858" "0" "872" "0" "c.858_872del" "r.(?)" "p.(Gln287_Gln291del)" "" "0000807829" "00000081" "30" "867" "0" "872" "0" "c.867_872dup" "r.(?)" "p.(Gln290_Gln291dup)" "" "0000807830" "00000081" "30" "1941" "0" "1941" "0" "c.1941C>T" "r.(?)" "p.(Ser647=)" "" "0000807831" "00000081" "30" "2307" "0" "2307" "0" "c.2307G>A" "r.(?)" "p.(Leu769=)" "" "0000807832" "00000081" "30" "3515" "0" "3515" "0" "c.3515G>A" "r.(?)" "p.(Arg1172His)" "" "0000807833" "00000081" "50" "3743" "0" "3748" "0" "c.3743_3748del" "r.(?)" "p.(Ser1248_Ser1249del)" "" "0000807834" "00000081" "30" "4652" "0" "4652" "0" "c.4652C>T" "r.(?)" "p.(Ser1551Leu)" "" "0000807835" "00000081" "90" "4816" "0" "4826" "0" "c.4816_4826del" "r.(?)" "p.(Ala1606Hisfs*100)" "" "0000807836" "00000081" "30" "5330" "0" "5330" "0" "c.5330C>A" "r.(?)" "p.(Ser1777Tyr)" "" "0000807837" "00000081" "30" "5408" "0" "5408" "0" "c.5408G>A" "r.(?)" "p.(Arg1803His)" "" "0000840028" "00000081" "70" "1904" "0" "1904" "0" "c.1904A>T" "r.(?)" "p.(Asp635Val)" "" "0000840029" "00000081" "50" "4295" "0" "4295" "0" "c.4295C>T" "r.(?)" "p.(Pro1432Leu)" "" "0000865100" "00000081" "70" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Gln317*)" "" "0000865101" "00000081" "30" "2478" "0" "2478" "0" "c.2478G>A" "r.(?)" "p.(Leu826=)" "" "0000865102" "00000081" "50" "3118" "0" "3118" "0" "c.3118G>A" "r.(?)" "p.(Gly1040Arg)" "" "0000865103" "00000081" "30" "3690" "0" "3690" "0" "c.3690G>A" "r.(?)" "p.(Ala1230=)" "" "0000865104" "00000081" "30" "5199" "0" "5199" "0" "c.5199G>A" "r.(?)" "p.(Ser1733=)" "" "0000868158" "00000081" "90" "1785" "0" "1785" "0" "c.1785dup" "r.(?)" "p.(Arg596Alafs*25)" "" "0000893373" "00000081" "30" "101" "0" "101" "0" "c.101G>A" "r.(?)" "p.(Ser34Asn)" "" "0000893374" "00000081" "30" "861" "0" "872" "0" "c.861_872dup" "r.(?)" "p.(Gln288_Gln291dup)" "" "0000893375" "00000081" "50" "2750" "0" "2750" "0" "c.2750C>T" "r.(?)" "p.(Pro917Leu)" "" "0000893376" "00000081" "50" "4552" "0" "4552" "0" "c.4552C>T" "r.(?)" "p.(Pro1518Ser)" "" "0000893377" "00000081" "90" "4675" "0" "4675" "0" "c.4675C>T" "r.(?)" "p.(Arg1559*)" "" "0000893378" "00000081" "90" "5425" "0" "5425" "0" "c.5425A>T" "r.(?)" "p.(Lys1809*)" "" "0000918172" "00000081" "90" "2273" "0" "2273" "0" "c.2273G>A" "r.(?)" "p.(Trp758*)" "" "0000918962" "00000081" "90" "845" "0" "857" "0" "c.845_857del" "r.(?)" "p.(Gln282Argfs*78)" "" "0000921053" "00000081" "90" "2526" "0" "2545" "0" "c.2526_2545del" "r.(?)" "p.(His843Leufs*19)" "" "0000921526" "00000081" "90" "13" "0" "13" "0" "c.13C>T" "r.(?)" "p.(Arg5*)" "" "0000926403" "00000081" "50" "2980" "0" "2980" "0" "c.2980C>T" "r.(?)" "p.(Arg994Trp)" "" "0000930702" "00000081" "50" "5719" "0" "5719" "0" "c.5719T>C" "r.(?)" "p.(Ter1907GlnextTer1)" "" "0000931503" "00000081" "70" "3284" "0" "3284" "0" "c.3284del" "r.(?)" "p.(Gly1095Alafs*50)" "" "0000931672" "00000081" "50" "3025" "0" "3025" "0" "c.3025G>A" "r.(?)" "p.(Glu1009Lys)" "" "0000944810" "00000081" "50" "5400" "0" "5400" "0" "c.5400C>G" "r.(?)" "p.(Asp1800Glu)" "" "0000950806" "00000081" "70" "487" "0" "487" "0" "c.487C>T" "r.(?)" "p.(Gln163*)" "" "0000950807" "00000081" "50" "836" "0" "837" "0" "c.836_837insACAGCAGCA" "r.(?)" "p.(Gln289_Gln291dup)" "" "0000950808" "00000081" "50" "1127" "0" "1127" "0" "c.1127C>T" "r.(?)" "p.(Pro376Leu)" "" "0000950809" "00000081" "50" "4016" "0" "4016" "0" "c.4016C>G" "r.(?)" "p.(Pro1339Arg)" "" "0000968710" "00000081" "30" "864" "0" "872" "0" "c.864_872del" "r.(?)" "p.(Gln289_Gln291del)" "" "0000982344" "00000081" "50" "1405" "0" "1405" "0" "c.1405G>C" "r.(?)" "p.(Val469Leu)" "" "0000982345" "00000081" "30" "3650" "0" "3650" "0" "c.3650G>A" "r.(?)" "p.(Arg1217Gln)" "" "0000982346" "00000081" "50" "3827" "0" "3827" "0" "c.3827C>T" "r.(?)" "p.(Pro1276Leu)" "" "0000982347" "00000081" "70" "3937" "0" "3937" "0" "c.3937del" "r.(?)" "p.(Ala1313Profs*2)" "" "0000982348" "00000081" "30" "4682" "0" "4682" "0" "c.4682G>A" "r.(?)" "p.(Arg1561Gln)" "" "0001002983" "00000081" "30" "223" "0" "223" "0" "c.223G>T" "r.(?)" "p.(Ala75Ser)" "" "0001002984" "00000081" "30" "304" "0" "304" "0" "c.304G>A" "r.(?)" "p.(Val102Ile)" "" "0001002985" "00000081" "30" "715" "0" "715" "0" "c.715T>A" "r.(?)" "p.(Cys239Ser)" "" "0001002986" "00000081" "30" "730" "0" "730" "0" "c.730G>A" "r.(?)" "p.(Ala244Thr)" "" "0001002987" "00000081" "30" "761" "0" "761" "0" "c.761G>T" "r.(?)" "p.(Ser254Ile)" "" "0001002988" "00000081" "30" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Leu266Phe)" "" "0001002989" "00000081" "30" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Cys)" "" "0001002990" "00000081" "30" "1132" "0" "1132" "0" "c.1132A>G" "r.(?)" "p.(Ser378Gly)" "" "0001002991" "00000081" "30" "1133" "0" "1133" "0" "c.1133G>C" "r.(?)" "p.(Ser378Thr)" "" "0001002992" "00000081" "30" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Ala381Val)" "" "0001002993" "00000081" "30" "1855" "0" "1855" "0" "c.1855G>A" "r.(?)" "p.(Gly619Ser)" "" "0001002994" "00000081" "30" "1945" "0" "1945" "0" "c.1945T>A" "r.(?)" "p.(Cys649Ser)" "" "0001002995" "00000081" "30" "2488" "0" "2488" "0" "c.2488G>A" "r.(?)" "p.(Glu830Lys)" "" "0001002996" "00000081" "30" "2590" "0" "2590" "0" "c.2590G>A" "r.(?)" "p.(Asp864Asn)" "" "0001002997" "00000081" "50" "2819" "0" "2819" "0" "c.2819G>A" "r.(?)" "p.(Ser940Asn)" "" "0001002998" "00000081" "50" "3089" "0" "3089" "0" "c.3089G>A" "r.(?)" "p.(Cys1030Tyr)" "" "0001002999" "00000081" "30" "3142" "0" "3142" "0" "c.3142G>A" "r.(?)" "p.(Ala1048Thr)" "" "0001003000" "00000081" "30" "3895" "0" "3895" "0" "c.3895G>A" "r.(?)" "p.(Asp1299Asn)" "" "0001003001" "00000081" "30" "4111" "0" "4111" "0" "c.4111G>A" "r.(?)" "p.(Ala1371Thr)" "" "0001003002" "00000081" "30" "4367" "0" "4367" "0" "c.4367A>C" "r.(?)" "p.(His1456Pro)" "" "0001003003" "00000081" "30" "4477" "0" "4477" "0" "c.4477G>A" "r.(?)" "p.(Gly1493Ser)" "" "0001003004" "00000081" "30" "5659" "4" "5659" "4" "c.5659+4C>T" "r.spl?" "p.?" "" "0001003005" "00000081" "30" "5709" "8" "5709" "8" "c.5709+8A>G" "r.(=)" "p.(=)" "" "0001003006" "00000081" "30" "13068" "0" "13068" "0" "c.*7347G>C" "r.(=)" "p.(=)" "" "0001007050" "00000081" "90" "367" "0" "367" "0" "c.367dup" "r.(?)" "p.(Ala123GlyfsTer20)" "" "0001015477" "00000081" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Pro95Leu)" "" "0001023417" "00000081" "70" "1360" "0" "1375" "0" "c.1360_1375dup" "r.(?)" "p.(Val459Alafs*24)" "3" "0001026823" "00000081" "50" "1587" "0" "1587" "0" "c.1587C>G" "r.(?)" "p.(Phe529Leu)" "" "0001026824" "00000081" "30" "5449" "0" "5449" "0" "c.5449G>A" "r.(?)" "p.(Gly1817Arg)" "" "0001041657" "00000081" "30" "837" "0" "837" "0" "c.837G>A" "r.(?)" "p.(Gln279=)" "" "0001041658" "00000081" "50" "846" "0" "872" "0" "c.846_872del" "r.(?)" "p.(Gln283_Gln291del)" "" "0001041659" "00000081" "30" "2113" "0" "2113" "0" "c.2113C>T" "r.(?)" "p.(Pro705Ser)" "" "0001041660" "00000081" "30" "2958" "0" "2958" "0" "c.2958C>T" "r.(?)" "p.(=)" "" "0001041661" "00000081" "10" "3743" "0" "3748" "0" "c.3743_3748del" "r.(?)" "p.(Ser1248_Ser1249del)" "" "0001041662" "00000081" "30" "4526" "0" "4526" "0" "c.4526A>G" "r.(?)" "p.(Gln1509Arg)" "" "0001041663" "00000081" "30" "9439" "0" "9439" "0" "c.*3718G>A" "r.(=)" "p.(=)" "" "0001041664" "00000081" "50" "32509" "0" "32509" "0" "c.*26788C>A" "r.(=)" "p.(=)" "" "0001046597" "00000081" "50" "852" "0" "872" "0" "c.852_872del" "r.(?)" "p.(Gln285_Gln291del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{variantid}}" "0000000029" "0000000669" "0000000209" "0000005675" "0000000210" "0000013646" "0000019863" "0000040325" "0000024238" "0000046796" "0000036705" "0000063830" "0000036706" "0000063831" "0000036707" "0000063832" "0000036708" "0000063833" "0000036709" "0000063834" "0000036710" "0000063835" "0000036711" "0000063836" "0000036712" "0000063837" "0000036713" "0000063838" "0000050045" "0000079015" "0000175760" "0000398630" "0000219484" "0000454353" "0000290481" "0000647153" "0000292818" "0000649507" "0000292819" "0000649508" "0000296839" "0000653560" "0000297876" "0000660576" "0000308451" "0000682858" "0000316188" "0000698338" "0000360689" "0000760763" "0000362843" "0000763217" "0000404349" "0000840028" "0000404349" "0000840029" "0000411128" "0000868158" "0000432627" "0000918172" "0000433316" "0000918962" "0000435116" "0000921053" "0000435513" "0000921526" "0000436836" "0000931503" "0000463764" "0001023417"