### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = UBE3A) # 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}}" "UBE3A" "ubiquitin protein ligase E3A" "15" "q11.2" "paternal" "NC_000015.9" "UD_132119023014" "" "https://www.LOVD.nl/UBE3A" "" "1" "12496" "7337" "601623" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/UBE3A_NM_130839.2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-21 22:08:34" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00022268" "UBE3A" "transcript variant 2" "002" "NM_000462.3" "" "NP_000453.2" "" "" "" "-760" "4516" "2628" "25684175" "25582396" "" "0000-00-00 00:00:00" "" "" "00025775" "UBE3A" "transcript variant 3" "006" "NM_130839.2" "" "NP_570854.1" "" "" "" "-704" "4507" "2619" "25684175" "25582396" "00006" "2022-12-18 12:35:31" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{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" "00230" "AS" "Angelman syndrome (AS)" "AD" "105830" "" "" "" "00006" "2013-10-09 19:24:15" "00006" "2021-12-10 21:51:32" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "UBE3A" "00139" "UBE3A" "00230" ## Individuals ## Do not remove or alter this header ## ## Count = 45 "{{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}}" "00016331" "" "" "" "1" "" "00681" "" "" "?" "" "" "" "0" "" "" "" "" "00037313" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037314" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037315" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037316" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037317" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037318" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037319" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037320" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037321" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037322" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037323" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037324" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037325" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00037326" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00080999" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00132969" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00164714" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00180157" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat09" "00180158" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat10" "00183663" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat08" "00229578" "" "" "" "1" "" "01261" "{PMID:Yakoreva 2019:31186545}, {DOI:Yakoreva 2019:10.1038/s41431-019-0446-x}" "" "M" "" "Estonia" "" "0" "" "" "" "" "00276058" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00295359" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295715" "" "" "" "1" "" "01164" "" "" "M" "?" "Finland" "" "0" "" "" "" "115522" "00303052" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat97" "00303141" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "2-generation family, 2 affected sibs, inherited from unaffected mother" "F" "" "" "" "0" "" "" "" "T23859" "00303162" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "" "" "" "" "" "0" "" "" "" "T2596" "00307782" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411225" "00307980" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:28940097}" "familial" "M" "" "" "" "0" "" "" "" "14DG0647" "00308022" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat1" "00325401" "" "" "" "1" "" "00006" "{PMID:Hong 2020:33333793}" "" "M" "" "Taiwan" "" "0" "" "" "" "Pat14" "00373658" "" "" "" "1" "" "01864" "" "" "F" "no" "China" "" "" "" "" "Chinese" "iw036" "00374531" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3161" "00374532" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1732" "00375656" "" "" "" "1" "" "00006" "{PMID:Srivastava 2014:25131622}" "" "" "" "United States" "" "0" "" "" "" "Pat51" "00380167" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "182023" "00390055" "" "" "" "1" "" "00006" "{PMID:Kritioti 2021:34324503}" "" "M" "" "Cyprus" "" "0" "" "" "Greece" "Pat2" "00427984" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A054" "00438312" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat30" "00438722" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "" "" "HSC0041" "00440383" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2642.1" "00460918" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00461306" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00464066" "" "" "" "1" "" "01164" "" "" "M" "?" "Somalia" "" "0" "" "" "" "321280" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 33 "{{individualid}}" "{{diseaseid}}" "00016331" "00000" "00037319" "00198" "00037320" "00198" "00080999" "00230" "00132969" "00198" "00164714" "00198" "00180157" "00198" "00180158" "00198" "00183663" "00139" "00229578" "00230" "00276058" "00198" "00295359" "00198" "00295715" "00230" "00303052" "05521" "00303141" "00344" "00303162" "00344" "00307782" "00139" "00307980" "00139" "00308022" "00198" "00325401" "00198" "00373658" "00230" "00374531" "00198" "00374532" "00198" "00375656" "00198" "00380167" "00230" "00390055" "00198" "00427984" "00198" "00438312" "04270" "00438722" "06906" "00440383" "00198" "00460918" "00198" "00461306" "05611" "00464066" "00230" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00230, 00344, 04270, 05521, 05611, 06906 ## Count = 28 "{{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}}" "0000060568" "00230" "00080999" "01758" "Isolated (sporadic)" "" "Angelman syndrome (OMIM:105830)" "" "" "" "" "" "" "" "" "" "" "" "0000105730" "00198" "00132969" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Intention tremor (HP:0002080)" "" "" "" "" "" "" "" "" "" "" "" "0000129753" "00198" "00164714" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Severe expressive language delay (HP:0006863)" "" "" "" "" "" "" "" "" "" "" "" "0000142611" "00198" "00180157" "00006" "Familial, autosomal dominant" "" "Epilepsy (HP:0001250), atypical absence seizures (HP:0007270), severe intellectual disability (HP:0010864), attention deficit hyperactivity disorder (HP:0007018), growth delay (HP:0001510)." "" "" "" "" "" "" "" "" "Angelman syndrome" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000142612" "00198" "00180158" "00006" "Familial, autosomal dominant" "" "Epilepsy (HP:0001250), global developmental delay (HP:0001263), EEG abnormality (HP:0002353), expressive language delay (HP:0002474), abnormality of corpus callosum (HP:0001273)" "" "" "" "" "" "" "" "" "Angelman syndrome" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000144349" "00139" "00183663" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "AS" "intellectual disability" "" "0000156880" "00198" "00037319" "01164" "Unknown" "" "suspected Angelman syndrome" "" "" "" "" "" "" "" "" "" "Angelman syndrome?" "" "0000156881" "00198" "00037320" "01164" "Unknown" "" "severe developmental delay, microcephaly" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000210614" "00198" "00276058" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Absent speech (HP:0001344); Seizures (HP:0001250); Intellectual disability (HP:0001249); Behavioral abnormality (HP:0000708); Sleep disturbance (HP:0002360); Intermittent hyperventilation (HP:0004879)" "" "" "" "" "" "" "" "" "" "" "" "0000223255" "00230" "00295715" "01164" "Unknown" "" "4 year old boy with delayed speech and language development, Muscular hypotonia, Clumsiness, Sleep disturbance. Methylation and MLPA negative, FraX and VPS13B Seq + MLPA also negative" "" "" "" "" "" "" "" "" "" "3y" "" "0000230135" "05521" "00303052" "00006" "Isolated (sporadic)" "" "Epileptic Encephalopathy, Infantile Onset/Angelman syndrome; age onset infantile" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230225" "00344" "00303141" "00006" "Familial" "" "epileptic encephalopathy – features suggestive of Angelman syndrome" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000230246" "00344" "00303162" "00006" "Unknown" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000233403" "00139" "00307980" "00006" "Isolated (sporadic)" "12y" "see paper; ..., Intellectual disability, Microcephaly, seizures, Hearing impairment" "" "" "" "" "" "" "" "" "" "intellectual diability" "" "0000233448" "00198" "00308022" "00006" "Isolated (sporadic)" "" "severe global developmental delay, regression, dysmorphism" "" "" "" "" "" "" "" "" "AS" "developmental delay" "" "0000243888" "00198" "00325401" "00006" "Familial, autosomal dominant" "" "11m-onset seizures; general tonic seizures; profound intellectual disability" "" "14m" "" "" "" "" "" "" "" "regressive encephalopathy" "" "0000268930" "00230" "00373658" "01864" "Familial, autosomal dominant" "" "HP:0012768; HP:0000750; HP:0002194; HP:0010862; HP:0000736; HP:0001249" "" "" "" "" "" "" "" "" "Angelman syndrome (OMIM 105830)" "" "" "0000269741" "00198" "00374531" "00006" "Familial, autosomal dominant" "" "Delayed motor development, microcephaly, hypotonia, abnormal gait, ataxia and abnormal ECG" "" "" "" "" "" "" "" "" "" "ataxia, microcephaly" "" "0000269742" "00198" "00374532" "00006" "Familial, autosomal dominant" "" "Attention deficiency, delayed motor development, cognitive deficit, delayed speech, global developmental delay and autistic features" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000270869" "00198" "00375656" "00006" "Isolated (sporadic)" "" "intellectual disability/developmental delay; spastic diplegia; spastic diplegia, hypotonia, dystonia; hyper-reflexia; MRI brain delayed meylination" "" "7y" "" "" "" "" "" "" "" "" "" "0000274022" "00230" "00380167" "01164" "Isolated (sporadic)" "19y" "Delayed speech and language development, Intellectual disability, Global developmental delay, Myoclonus, Absent speech, Involuntary movements, Severe global developmental delay, Abnormality of higher mental function, Neurodevelopmental delay, Neurodevelopmental abnormality" "" "" "" "" "" "" "" "" "" "" "" "0000283594" "00198" "00390055" "00006" "Isolated (sporadic)" "4y" "global developmental delay, hypotonia, glossoptosis, tapering fingers, plagiocephaly, over-folded ear helices, myopia" "" "" "" "" "" "" "" "" "" "" "" "0000318930" "00198" "00427984" "00006" "Familial, autosomal dominant" "7y" "" "" "" "" "" "" "" "" "" "Angelman syndrome" "" "" "0000328216" "04270" "00438312" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0000750 delayed speech and language development; HP:0002333 motor deterioration" "8y" "" "" "" "" "" "" "" "" "epilepsy" "" "0000328625" "06906" "00438722" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000330293" "00198" "00440383" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Angelman syndrome (MIM #105830)" "" "" "0000348806" "05611" "00461306" "03544" "Isolated (sporadic)" "" "HP:0000252, HP:0000750, HP:0001250, HP:0001252, HP:0001347, HP:0002136, HP:0010864, HP:0032794" "" "" "" "" "" "" "" "" "AS" "complex neurodevelopmental disorder" "" "0000350127" "00230" "00464066" "01164" "Unknown" "02y" "Neurodevelopmental delay, Delayed speech and language development, Risky behavior, Intellectual disability" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 45 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000016260" "00016331" "1" "00681" "00681" "2014-03-13 11:48:54" "00006" "2014-03-14 16:58:22" "SEQ-NG-I" "DNA" "" "" "0000037383" "00037313" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037384" "00037314" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037385" "00037315" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037386" "00037316" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037387" "00037317" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037388" "00037318" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037389" "00037319" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037390" "00037320" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037391" "00037321" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037392" "00037322" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037393" "00037323" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037394" "00037324" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037395" "00037325" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000037396" "00037326" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000081111" "00080999" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000133803" "00132969" "0" "01807" "01807" "2017-11-10 16:51:23" "" "" "SEQ" "DNA" "" "" "0000165581" "00164714" "1" "01807" "01807" "2018-06-05 19:09:02" "" "" "SEQ" "DNA" "" "" "0000181060" "00180157" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000181061" "00180158" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000184631" "00183663" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel" "0000230670" "00229578" "1" "01261" "01261" "2019-03-30 16:34:37" "" "" "SEQ-NG-I" "DNA" "blood" "TruSight One panel (4813 genes)" "0000277205" "00276058" "1" "01807" "01807" "2020-01-24 11:03:14" "" "" "SEQ" "DNA" "" "" "0000296527" "00295359" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296888" "00295715" "1" "01164" "01164" "2020-03-24 22:18:42" "" "" "SEQ-NG-I" "DNA" "Germline" "" "0000304177" "00303052" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304266" "00303141" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000304287" "00303162" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000308922" "00307782" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000309124" "00307980" "1" "00006" "00006" "2020-08-23 13:31:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000309166" "00308022" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000326612" "00325401" "1" "00006" "00006" "2021-01-02 12:18:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000374891" "00373658" "1" "01864" "01864" "2021-05-18 10:25:21" "" "" "SEQ-NG" "DNA" "blood" "WGS" "0000375725" "00374531" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375726" "00374532" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000376853" "00375656" "1" "00006" "00006" "2021-06-14 20:30:20" "" "" "SEQ-NG" "DNA" "" "WES" "0000381369" "00380167" "1" "01164" "01164" "2021-08-10 15:01:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000391296" "00390055" "1" "00006" "00006" "2021-11-09 16:34:00" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000429397" "00427984" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood, peripheral blood mononuclear cells" "duo WES" "0000439794" "00438312" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440204" "00438722" "1" "00006" "00006" "2023-10-21 22:02:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000441868" "00440383" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462550" "00460918" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "mRNA splicing analysis on tissue" "0000462938" "00461306" "1" "03544" "03544" "2025-01-31 14:16:43" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000465697" "00464066" "1" "01164" "01164" "2025-02-19 14:13:12" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{geneid}}" "0000016260" "SCN1B" "0000016260" "UBE3A" "0000037383" "UBE3A" "0000037384" "UBE3A" "0000037385" "UBE3A" "0000037386" "UBE3A" "0000037387" "UBE3A" "0000037388" "UBE3A" "0000037389" "UBE3A" "0000037390" "UBE3A" "0000037391" "UBE3A" "0000037392" "UBE3A" "0000037393" "UBE3A" "0000037394" "UBE3A" "0000037395" "UBE3A" "0000037396" "UBE3A" "0000081111" "UBE3A" "0000181060" "UBE3A" "0000181061" "UBE3A" "0000184631" "UBE3A" "0000296888" "UBE3A" "0000304177" "UBE3A" "0000304266" "UBE3A" "0000304287" "UBE3A" "0000308922" "UBE3A" "0000309124" "UBE3A" "0000326612" "UBE3A" "0000374891" "UBE3A" "0000375725" "UBE3A" "0000375726" "UBE3A" "0000381369" "UBE3A" "0000462550" "UBE3A" "0000465697" "UBE3A" ## 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 = 154 "{{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}}" "0000036007" "0" "55" "15" "25605557" "25605557" "subst" "0" "00681" "UBE3A_001001" "g.25605557C>T" "" "{PMID:Della Mina et al 2014:Submitted}" "" "" "" "Unknown" "" "" "0" "" "" "g.25360410C>T" "" "VUS" "" "0000064508" "1" "10" "15" "25616729" "25616729" "subst" "0.0117041" "01164" "UBE3A_001005" "g.25616729C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.25371582C>T" "" "benign" "" "0000064509" "1" "50" "15" "25650763" "25650763" "subst" "0" "01164" "UBE3A_001003" "g.25650763C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.25405616C>G" "" "VUS" "" "0000064510" "1" "90" "15" "25615916" "25615917" "del" "0" "01164" "UBE3A_001012" "g.25615916_25615917del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.25370769_25370770del" "" "pathogenic" "" "0000064511" "1" "50" "15" "25584221" "25584221" "subst" "0" "01164" "UBE3A_001014" "g.25584221A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.25339074A>G" "" "VUS" "" "0000064512" "1" "10" "15" "25620980" "25620982" "del" "0" "01164" "UBE3A_001006" "g.25620980_25620982del" "" "" "" "" "[c.72-72_72-70del TGA] in MutSur.c.72-68_72-66del GAT" "Germline" "" "rs112518737" "0" "" "" "g.25375833_25375835del" "" "benign" "" "0000064513" "1" "10" "15" "25650704" "25650704" "dup" "0" "01164" "UBE3A_001002" "g.25650704dup" "" "" "" "" "" "Germline" "" "rs35086186" "0" "" "" "g.25405557dup" "" "benign" "" "0000064514" "1" "90" "15" "25615882" "25615882" "dup" "0" "01164" "UBE3A_001011" "g.25615882dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.25370735dup" "" "pathogenic" "" "0000064515" "1" "50" "15" "25605596" "25605596" "subst" "0" "01164" "UBE3A_001010" "g.25605596C>A" "" "" "" "" "PolyPhen-2: :probably damaging (PSIC: 0,997)" "Germline" "" "" "0" "" "" "g.25360449C>A" "" "VUS" "" "0000064516" "1" "10" "15" "25599615" "25599617" "del" "0" "01164" "UBE3A_001007" "g.25599615_25599617del" "" "" "" "" "" "Germline" "" "rs2066728" "0" "" "" "g.25354468_25354470del" "" "benign" "" "0000064517" "1" "10" "15" "25602101" "25602101" "subst" "0" "01164" "UBE3A_001009" "g.25602101A>C" "" "" "" "" "" "Germline" "" "rs10519485" "0" "" "" "g.25356954A>C" "" "benign" "" "0000064518" "1" "10" "15" "25602024" "25602024" "subst" "0.0060309" "01164" "UBE3A_001008" "g.25602024T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.25356877T>C" "" "benign" "" "0000064519" "1" "50" "15" "25620981" "25620983" "del" "0" "01164" "UBE3A_001004" "g.25620981_25620983del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.25375834_25375836del" "" "VUS" "" "0000064520" "1" "50" "15" "25616450" "25616450" "subst" "0" "01164" "UBE3A_001013" "g.25616450T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.25371303T>C" "" "VUS" "" "0000064521" "1" "90" "15" "25584336" "25584337" "del" "0" "01164" "UBE3A_001015" "g.25584336_25584337del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.25339189_25339190del" "" "pathogenic" "" "0000130197" "0" "90" "15" "25584338" "25584341" "dup" "0" "01758" "UBE3A_001016" "g.25584338_25584341dup" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.25339191_25339194dup" "" "pathogenic" "ACMG" "0000223231" "0" "70" "15" "25584272" "25584286" "del" "0" "01807" "UBE3A_001017" "g.25584272_25584286del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.25339125_25339139del" "" "likely pathogenic" "" "0000250714" "0" "10" "15" "25601030" "25601030" "subst" "0.0045476" "02326" "UBE3A_001031" "g.25601030A>G" "" "" "" "UBE3A(NM_000462.5):c.2133+9T>C, UBE3A(NM_001354543.1):c.2064+9T>C, UBE3A(NM_130838.1):c.2064+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25355883A>G" "" "benign" "" "0000251574" "0" "10" "15" "25602101" "25602101" "subst" "0" "02326" "UBE3A_001009" "g.25602101A>C" "" "" "" "UBE3A(NM_000462.5):c.1763-58T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25356954A>C" "" "benign" "" "0000251575" "0" "10" "15" "25605726" "25605726" "subst" "0" "02326" "UBE3A_001071" "g.25605726A>G" "" "" "" "UBE3A(NM_000462.5):c.1618-52T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25360579A>G" "" "benign" "" "0000251576" "0" "10" "15" "25615646" "25615646" "subst" "0" "02326" "UBE3A_001042" "g.25615646A>T" "" "" "" "UBE3A(NM_000462.5):c.1617+67T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370499A>T" "" "benign" "" "0000253066" "0" "30" "15" "25601030" "25601030" "subst" "0.0045476" "01943" "UBE3A_001031" "g.25601030A>G" "" "" "" "UBE3A(NM_000462.5):c.2133+9T>C, UBE3A(NM_001354543.1):c.2064+9T>C, UBE3A(NM_130838.1):c.2064+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25355883A>G" "" "likely benign" "" "0000253476" "0" "10" "15" "25616948" "25616948" "subst" "0.00563787" "01943" "UBE3A_001061" "g.25616948A>G" "" "" "" "UBE3A(NM_130838.1):c.313T>C (p.L105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371801A>G" "" "benign" "" "0000254470" "0" "30" "15" "25585354" "25585354" "subst" "0" "01943" "UBE3A_001023" "g.25585354A>G" "" "" "" "UBE3A(NM_000462.5):c.2385T>C (p.H795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25340207A>G" "" "likely benign" "" "0000254814" "0" "30" "15" "25615839" "25615839" "subst" "4.06438E-6" "01943" "UBE3A_001045" "g.25615839A>G" "" "" "" "UBE3A(NM_000462.5):c.1491T>C (p.N497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370692A>G" "" "likely benign" "" "0000255119" "0" "30" "15" "25616862" "25616862" "subst" "0" "01943" "UBE3A_001059" "g.25616862A>G" "" "" "" "UBE3A(NM_000462.5):c.468T>C (p.V156=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371715A>G" "" "likely benign" "" "0000312928" "0" "10" "15" "25584285" "25584285" "subst" "0.00309309" "02325" "UBE3A_001018" "g.25584285T>C" "" "" "" "UBE3A(NM_000462.5):c.2627A>G (p.*876=), UBE3A(NM_130838.1):c.2558A>G (p.*853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25339138T>C" "" "benign" "" "0000315172" "0" "10" "15" "25657995" "25657995" "subst" "0" "02326" "UBE3A_001066" "g.25657995T>C" "" "" "" "UBE3A(NM_000462.5):c.-220-877A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25412848T>C" "" "benign" "" "0000315173" "0" "10" "15" "25658104" "25658104" "subst" "0" "02326" "UBE3A_001067" "g.25658104T>C" "" "" "" "UBE3A(NM_000462.5):c.-220-986A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25412957T>C" "" "benign" "" "0000315174" "0" "30" "15" "25684129" "25684129" "subst" "0" "02326" "UBE3A_001068" "g.25684129G>T" "" "" "" "UBE3A(NM_000462.5):c.-714C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25438982G>T" "" "likely benign" "" "0000315175" "0" "30" "15" "25616052" "25616052" "subst" "0.00109453" "02326" "UBE3A_001048" "g.25616052G>A" "" "" "" "UBE3A(NM_000462.5):c.1278C>T (p.D426=), UBE3A(NM_001354543.1):c.1209C>T (p.D403=), UBE3A(NM_130838.1):c.1209C>T (p.D403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370905G>A" "" "likely benign" "" "0000315176" "0" "70" "15" "25615744" "25615744" "subst" "0" "02326" "UBE3A_001043" "g.25615744C>T" "" "" "" "UBE3A(NM_000462.5):c.1586G>A (p.R529H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370597C>T" "" "likely pathogenic" "" "0000315177" "0" "10" "15" "25615631" "25615631" "subst" "0" "02326" "UBE3A_001041" "g.25615631T>C" "" "" "" "UBE3A(NM_000462.5):c.1617+82A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370484T>C" "" "benign" "" "0000315179" "0" "10" "15" "25602024" "25602024" "subst" "0.0060309" "02326" "UBE3A_001008" "g.25602024T>C" "" "" "" "UBE3A(NM_130838.1):c.1713A>G (p.E571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25356877T>C" "" "benign" "" "0000315180" "0" "10" "15" "25600941" "25600941" "del" "0" "02326" "UBE3A_001029" "g.25600941del" "" "" "" "UBE3A(NM_000462.5):c.2133+107delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25355794del" "" "benign" "" "0000315181" "0" "10" "15" "25600943" "25600943" "subst" "0" "02326" "UBE3A_001030" "g.25600943T>C" "" "" "" "UBE3A(NM_000462.5):c.2133+96A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25355796T>C" "" "benign" "" "0000315182" "0" "90" "15" "25599831" "25599831" "subst" "0" "02326" "UBE3A_001027" "g.25599831C>T" "" "" "" "UBE3A(NM_000462.5):c.2134-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25354684C>T" "" "pathogenic" "" "0000315183" "0" "10" "15" "25585496" "25585496" "subst" "0" "02326" "UBE3A_001025" "g.25585496T>C" "" "" "" "UBE3A(NM_000462.5):c.2364-121A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25340349T>C" "" "benign" "" "0000315184" "0" "30" "15" "25584285" "25584285" "subst" "0.00309309" "02326" "UBE3A_001018" "g.25584285T>C" "" "" "" "UBE3A(NM_000462.5):c.2627A>G (p.*876=), UBE3A(NM_130838.1):c.2558A>G (p.*853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25339138T>C" "" "likely benign" "" "0000315185" "0" "10" "15" "25650694" "25650694" "subst" "0" "02326" "UBE3A_001064" "g.25650694C>T" "" "" "" "UBE3A(NM_000462.5):c.30-45G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25405547C>T" "" "benign" "" "0000315186" "0" "10" "15" "25616729" "25616729" "subst" "0.0117041" "02326" "UBE3A_001005" "g.25616729C>T" "" "" "" "UBE3A(NM_000462.3):c.601G>A (p.(Ala201Thr)), UBE3A(NM_000462.5):c.601G>A (p.A201T), UBE3A(NM_130838.1):c.532G>A (p.A178T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371582C>T" "" "benign" "" "0000319199" "0" "90" "15" "25616150" "25616153" "del" "0" "01943" "UBE3A_001051" "g.25616150_25616153del" "" "" "" "UBE3A(NM_130838.1):c.1110_1113delTGAA (p.N370Kfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371003_25371006del" "" "pathogenic" "" "0000319200" "0" "50" "15" "25616108" "25616108" "subst" "0" "01943" "UBE3A_001049" "g.25616108T>A" "" "" "" "UBE3A(NM_130838.1):c.1153A>T (p.T385S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370961T>A" "" "VUS" "" "0000319201" "0" "30" "15" "25616136" "25616136" "subst" "0.00137749" "01943" "UBE3A_001050" "g.25616136T>C" "" "" "" "UBE3A(NM_000462.5):c.1194A>G (p.E398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370989T>C" "" "likely benign" "" "0000319202" "0" "90" "15" "25615914" "25615917" "del" "0" "01943" "UBE3A_001047" "g.25615914_25615917del" "" "" "" "UBE3A(NM_130838.1):c.1345_1348delGAGA (p.E449Tfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370767_25370770del" "" "pathogenic" "" "0000319203" "0" "90" "15" "25615850" "25615854" "del" "0" "01943" "UBE3A_001046" "g.25615850_25615854del" "" "" "" "UBE3A(NM_130838.1):c.1412_1416delATTAT (p.Y471*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370703_25370707del" "" "pathogenic" "" "0000319204" "0" "90" "15" "25615781" "25615781" "subst" "0" "01943" "UBE3A_001044" "g.25615781G>A" "" "" "" "UBE3A(NM_130838.1):c.1480C>T (p.Q494*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25370634G>A" "" "pathogenic" "" "0000319205" "0" "30" "15" "25602030" "25602030" "subst" "0.000760156" "01943" "UBE3A_001039" "g.25602030G>A" "" "" "" "UBE3A(NM_000462.5):c.1776C>T (p.Y592=), UBE3A(NM_001354543.1):c.1707C>T (p.Y569=), UBE3A(NM_130838.1):c.1707C>T (p.Y569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25356883G>A" "" "likely benign" "" "0000319206" "0" "90" "15" "25602010" "25602014" "del" "0" "01943" "UBE3A_001038" "g.25602010_25602014del" "" "" "" "UBE3A(NM_130838.1):c.1726_1730delTTTTG (p.F576Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25356863_25356867del" "" "pathogenic" "" "0000319207" "0" "90" "15" "25602006" "25602006" "subst" "0" "01943" "UBE3A_001037" "g.25602006C>T" "" "" "" "UBE3A(NM_130838.1):c.1731G>A (p.W577*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25356859C>T" "" "pathogenic" "" "0000319209" "0" "90" "15" "25601211" "25601217" "del" "0" "01943" "UBE3A_001035" "g.25601211_25601217del" "" "" "" "UBE3A(NM_130838.1):c.1900-12_1900-6delTCTGGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25356064_25356070del" "" "pathogenic" "" "0000319210" "0" "90" "15" "25601122" "25601122" "subst" "0" "01943" "UBE3A_001034" "g.25601122G>A" "" "" "" "UBE3A(NM_130838.1):c.1981C>T (p.Q661*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25355975G>A" "" "pathogenic" "" "0000319211" "0" "30" "15" "25601098" "25601098" "subst" "1.62532E-5" "01943" "UBE3A_001033" "g.25601098T>C" "" "" "" "UBE3A(NM_130838.1):c.2005A>G (p.M669V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25355951T>C" "" "likely benign" "" "0000319212" "0" "90" "15" "25601050" "25601050" "subst" "0" "01943" "UBE3A_001032" "g.25601050C>A" "" "" "" "UBE3A(NM_130838.1):c.2053G>T (p.E685*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25355903C>A" "" "pathogenic" "" "0000319213" "0" "10" "15" "25599928" "25599930" "del" "0" "01943" "UBE3A_001028" "g.25599928_25599930del" "" "" "" "UBE3A(NM_130838.1):c.2065-96_2065-94delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25354781_25354783del" "" "benign" "" "0000319214" "0" "90" "15" "25599713" "25599713" "subst" "0" "01943" "UBE3A_001026" "g.25599713T>A" "" "" "" "UBE3A(NM_130838.1):c.2182A>T (p.R728*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25354566T>A" "" "pathogenic" "" "0000319215" "0" "10" "15" "25599615" "25599617" "del" "0" "01943" "UBE3A_001007" "g.25599615_25599617del" "" "" "" "UBE3A(NM_130838.1):c.2221-40_2221-38delGTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25354468_25354470del" "" "benign" "" "0000319216" "0" "90" "15" "25585358" "25585361" "del" "0" "01943" "UBE3A_001024" "g.25585358_25585361del" "" "" "" "UBE3A(NM_130838.1):c.2311_2314delGTTC (p.V771Ifs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25340211_25340214del" "" "pathogenic" "" "0000319217" "0" "10" "15" "25584438" "25584438" "del" "0.00210702" "01943" "UBE3A_001022" "g.25584438del" "" "" "" "UBE3A(NM_130838.1):c.2439-34delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25339291del" "" "benign" "" "0000319220" "0" "90" "15" "25584338" "25584343" "del" "0" "01943" "UBE3A_001020" "g.25584338_25584343del" "" "" "" "UBE3A(NM_130838.1):c.2503_2508delCTTAAA (p.L835_K836del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25339191_25339196del" "" "pathogenic" "" "0000319221" "0" "10" "15" "25584285" "25584285" "subst" "0.00309309" "01943" "UBE3A_001018" "g.25584285T>C" "" "" "" "UBE3A(NM_000462.5):c.2627A>G (p.*876=), UBE3A(NM_130838.1):c.2558A>G (p.*853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25339138T>C" "" "benign" "" "0000319222" "0" "10" "15" "25617158" "25617158" "del" "0" "01943" "UBE3A_001062" "g.25617158del" "" "" "" "UBE3A(NM_130838.1):c.302-198delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25372011del" "" "benign" "" "0000319223" "0" "90" "15" "25616902" "25616903" "del" "0" "01943" "UBE3A_001060" "g.25616902_25616903del" "" "" "" "UBE3A(NM_130838.1):c.362_363delAG (p.E121Gfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371755_25371756del" "" "pathogenic" "" "0000319224" "0" "10" "15" "25616844" "25616844" "subst" "0.00746244" "01943" "UBE3A_001058" "g.25616844T>A" "" "" "" "UBE3A(NM_130838.1):c.417A>T (p.A139=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371697T>A" "" "benign" "" "0000319225" "0" "30" "15" "25616747" "25616747" "subst" "4.06246E-6" "01943" "UBE3A_001057" "g.25616747T>C" "" "" "" "UBE3A(NM_130838.1):c.514A>G (p.K172E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371600T>C" "" "likely benign" "" "0000319226" "0" "10" "15" "25616729" "25616729" "subst" "0.0117041" "01943" "UBE3A_001005" "g.25616729C>T" "" "" "" "UBE3A(NM_000462.3):c.601G>A (p.(Ala201Thr)), UBE3A(NM_000462.5):c.601G>A (p.A201T), UBE3A(NM_130838.1):c.532G>A (p.A178T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371582C>T" "" "benign" "" "0000319227" "0" "30" "15" "25616732" "25616732" "subst" "4.06266E-6" "01943" "UBE3A_001056" "g.25616732C>A" "" "" "" "UBE3A(NM_000462.5):c.598G>T (p.A200S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371585C>A" "" "likely benign" "" "0000319228" "0" "30" "15" "25616532" "25616532" "subst" "4.06237E-6" "01943" "UBE3A_001055" "g.25616532G>A" "" "" "" "UBE3A(NM_000462.5):c.798C>T (p.N266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371385G>A" "" "likely benign" "" "0000319229" "0" "50" "15" "25616506" "25616506" "subst" "0.000105643" "01943" "UBE3A_001054" "g.25616506T>C" "" "" "" "UBE3A(NM_000462.5):c.824A>G (p.N275S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371359T>C" "" "VUS" "" "0000319231" "0" "50" "15" "25653788" "25653788" "subst" "4.06534E-6" "01943" "UBE3A_001065" "g.25653788T>C" "" "" "" "UBE3A(NM_000462.3):c.8A>G (p.(Lys3Arg)), UBE3A(NM_000462.5):c.8A>G (p.K3R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25408641T>C" "" "VUS" "" "0000319232" "0" "90" "15" "25616289" "25616295" "del" "0" "01943" "UBE3A_001052" "g.25616289_25616295del" "" "" "" "UBE3A(NM_130838.1):c.972_978delTACTTAT (p.T325Kfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371142_25371148del" "" "pathogenic" "" "0000323938" "0" "10" "15" "25616729" "25616729" "subst" "0.0117041" "01804" "UBE3A_001005" "g.25616729C>T" "" "" "" "UBE3A(NM_000462.3):c.601G>A (p.(Ala201Thr)), UBE3A(NM_000462.5):c.601G>A (p.A201T), UBE3A(NM_130838.1):c.532G>A (p.A178T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25371582C>T" "" "benign" "" "0000323940" "0" "50" "15" "25653788" "25653788" "subst" "4.06534E-6" "01804" "UBE3A_001065" "g.25653788T>C" "" "" "" "UBE3A(NM_000462.3):c.8A>G (p.(Lys3Arg)), UBE3A(NM_000462.5):c.8A>G (p.K3R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25408641T>C" "" "VUS" "" "0000337631" "0" "10" "15" "25601030" "25601030" "subst" "0.0045476" "02327" "UBE3A_001031" "g.25601030A>G" "" "" "" "UBE3A(NM_000462.5):c.2133+9T>C, UBE3A(NM_001354543.1):c.2064+9T>C, UBE3A(NM_130838.1):c.2064+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25355883A>G" "" "benign" "" "0000339766" "0" "10" "15" "25584285" "25584285" "subst" "0.00309309" "02327" "UBE3A_001018" "g.25584285T>C" "" "" "" "UBE3A(NM_000462.5):c.2627A>G (p.*876=), UBE3A(NM_130838.1):c.2558A>G (p.*853=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25339138T>C" "" "benign" "" "0000339767" "0" "10" "15" "25602030" "25602030" "subst" "0.000760156" "02327" "UBE3A_001039" "g.25602030G>A" "" "" "" "UBE3A(NM_000462.5):c.1776C>T (p.Y592=), UBE3A(NM_001354543.1):c.1707C>T (p.Y569=), UBE3A(NM_130838.1):c.1707C>T (p.Y569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25356883G>A" "" "benign" "" "0000346192" "0" "50" "15" "25601959" "25601959" "subst" "0" "02327" "UBE3A_001069" "g.25601959C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.25356812C>A" "" "VUS" "" "0000369306" "0" "90" "15" "25601194" "25601194" "subst" "0" "01807" "UBE3A_001072" "g.25601194G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.25356047G>A" "" "pathogenic" "" "0000404696" "0" "70" "15" "25584390" "25584402" "dup" "0" "00006" "UBE3A_001073" "g.25584390_25584402dup" "" "{PMID:Tumienė 2018:29286531}" "" "2513_2525dupCTACATCTCATAC" "" "De novo" "" "" "0" "" "" "g.25339243_25339255dup" "" "likely pathogenic" "ACMG" "0000404697" "0" "90" "15" "25599683" "25599683" "subst" "0" "00006" "UBE3A_001074" "g.25599683C>T" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "De novo" "" "" "0" "" "" "g.25354536C>T" "" "pathogenic" "ACMG" "0000408754" "0" "90" "15" "25584294" "25584294" "subst" "0" "00006" "UBE3A_001075" "g.25584294C>T" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "NM_000462.2:c.2618G>A" "Germline mosaicism" "De novo" "" "" "0" "" "" "g.25339147C>T" "" "pathogenic (dominant)" "" "0000472245" "21" "90" "15" "25620701" "25620701" "subst" "0" "01261" "UBE3A_001076" "g.25620701G>C" "" "{PMID:Yakoreva 2019:31186545}, {DOI:Yakoreva 2019:10.1038/s41431-019-0446-x}" "" "" "" "Germline" "" "" "0" "" "" "g.25375554G>C" "" "pathogenic" "" "0000553718" "0" "90" "15" "25584338" "25584341" "dup" "0" "01943" "UBE3A_001016" "g.25584338_25584341dup" "" "" "" "UBE3A(NM_130838.1):c.2503_2506dupCTTA (p.K836Tfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25339191_25339194dup" "" "pathogenic" "" "0000553719" "0" "90" "15" "25584354" "25584357" "dup" "0" "01943" "UBE3A_001077" "g.25584354_25584357dup" "" "" "" "UBE3A(NM_130838.1):c.2487_2490dupCTCA (p.S831Lfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25339207_25339210dup" "" "pathogenic" "" "0000553720" "0" "30" "15" "25585315" "25585315" "subst" "2.84315E-5" "01943" "UBE3A_001078" "g.25585315A>G" "" "" "" "UBE3A(NM_000462.5):c.2424T>C (p.F808=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25340168A>G" "" "likely benign" "" "0000553721" "0" "90" "15" "25601120" "25601123" "dup" "0" "01943" "UBE3A_001079" "g.25601120_25601123dup" "" "" "" "UBE3A(NM_130838.1):c.1985_1988dupCAGA (p.L664Rfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25355973_25355976dup" "" "pathogenic" "" "0000553722" "0" "90" "15" "25601994" "25601998" "dup" "0" "01943" "UBE3A_001080" "g.25601994_25601998dup" "" "" "" "UBE3A(NM_130838.1):c.1739_1743dupCATCT (p.S582Hfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25356847_25356851dup" "" "pathogenic" "" "0000553723" "0" "30" "15" "25602030" "25602030" "subst" "0.000760156" "02326" "UBE3A_001039" "g.25602030G>A" "" "" "" "UBE3A(NM_000462.5):c.1776C>T (p.Y592=), UBE3A(NM_001354543.1):c.1707C>T (p.Y569=), UBE3A(NM_130838.1):c.1707C>T (p.Y569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25356883G>A" "" "likely benign" "" "0000553724" "0" "10" "15" "25605482" "25605485" "del" "0" "01943" "UBE3A_001081" "g.25605482_25605485del" "" "" "" "UBE3A(NM_130838.1):c.1693+50_1693+53delGTTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25360335_25360338del" "" "benign" "" "0000553725" "0" "50" "15" "25605676" "25605676" "subst" "0" "01943" "UBE3A_001082" "g.25605676T>G" "" "" "" "UBE3A(NM_000462.5):c.1618-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25360529T>G" "" "VUS" "" "0000553726" "0" "10" "15" "25605731" "25605731" "dup" "0" "02326" "UBE3A_001083" "g.25605731dup" "" "" "" "UBE3A(NM_000462.5):c.1618-51dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25360584dup" "" "benign" "" "0000553727" "0" "10" "15" "25615917" "25615917" "subst" "0.00127001" "01943" "UBE3A_001084" "g.25615917T>C" "" "" "" "UBE3A(NM_000462.5):c.1413A>G (p.T471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25370770T>C" "" "benign" "" "0000553729" "0" "30" "15" "25616335" "25616335" "subst" "2.03155E-5" "01804" "UBE3A_001085" "g.25616335T>C" "" "" "" "UBE3A(NM_000462.3):c.995A>G (p.(Asn332Ser)), UBE3A(NM_001354543.1):c.926A>G (p.N309S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25371188T>C" "" "likely benign" "" "0000553730" "0" "90" "15" "25616383" "25616383" "dup" "0" "01943" "UBE3A_001086" "g.25616383dup" "" "" "" "UBE3A(NM_130838.1):c.878dupT (p.P294Tfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25371236dup" "" "pathogenic" "" "0000553731" "0" "70" "15" "25616926" "25616926" "del" "0" "01804" "UBE3A_001087" "g.25616926del" "" "" "" "UBE3A(NM_130838.1):c.337delA (p.(Ile113PhefsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25371779del" "" "likely pathogenic" "" "0000553732" "0" "90" "15" "25616951" "25616954" "del" "0" "01943" "UBE3A_001088" "g.25616951_25616954del" "" "" "" "UBE3A(NM_130838.1):c.312_315delCTTA (p.Y104*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25371804_25371807del" "" "pathogenic" "" "0000553733" "0" "30" "15" "25653772" "25653772" "subst" "0.000231634" "02325" "UBE3A_001089" "g.25653772A>G" "" "" "" "UBE3A(NM_000462.5):c.24T>C (p.Y8=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25408625A>G" "" "likely benign" "" "0000553734" "0" "50" "15" "25653833" "25653833" "subst" "0" "01804" "UBE3A_001090" "g.25653833T>C" "" "" "" "UBE3A(NM_000462.3):c.-36-2A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25408686T>C" "" "VUS" "" "0000615194" "0" "70" "15" "25584334" "25584337" "del" "0" "02327" "UBE3A_001091" "g.25584334_25584337del" "" "" "" "UBE3A(NM_001354543.2):c.2507_2510delAAGA (p.K836Rfs*4), UBE3A(NM_130839.2):c.2567_2570delAAGA (p.(Lys856fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25339187_25339190del" "" "likely pathogenic" "" "0000615195" "0" "90" "15" "25584334" "25584337" "del" "0" "02325" "UBE3A_001091" "g.25584334_25584337del" "" "" "" "UBE3A(NM_001354543.2):c.2507_2510delAAGA (p.K836Rfs*4), UBE3A(NM_130839.2):c.2567_2570delAAGA (p.(Lys856fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25339187_25339190del" "" "pathogenic" "" "0000615196" "0" "50" "15" "25585310" "25585310" "subst" "4.062E-6" "01943" "UBE3A_001092" "g.25585310G>A" "" "" "" "UBE3A(NM_000462.5):c.2429C>T (p.T810M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25340163G>A" "" "VUS" "" "0000615197" "0" "30" "15" "25615983" "25615983" "subst" "6.51423E-5" "01943" "UBE3A_001093" "g.25615983A>G" "" "" "" "UBE3A(NM_000462.5):c.1347T>C (p.F449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25370836A>G" "" "likely benign" "" "0000623195" "0" "30" "15" "25616335" "25616335" "subst" "2.03155E-5" "01943" "UBE3A_001085" "g.25616335T>C" "" "" "" "UBE3A(NM_000462.3):c.995A>G (p.(Asn332Ser)), UBE3A(NM_001354543.1):c.926A>G (p.N309S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25371188T>C" "" "likely benign" "" "0000631949" "0" "90" "15" "25616786" "25616786" "subst" "0" "01807" "UBE3A_001094" "g.25616786G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.25371639G>A" "" "pathogenic" "" "0000653216" "1" "90" "15" "25650606" "25650607" "ins" "0" "03575" "UBE3A_001095" "g.25650606_25650607insTT" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797046084}" "Germline" "" "rs797046084" "0" "" "" "g.25405459_25405460insTT" "" "pathogenic" "" "0000657535" "0" "30" "15" "25616394" "25616394" "subst" "6.91226E-5" "01943" "UBE3A_001097" "g.25616394C>T" "" "" "" "UBE3A(NM_001354543.1):c.867G>A (p.A289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.25371247C>T" "" "likely benign" "" "0000659537" "0" "70" "15" "25620876" "25620876" "subst" "0" "01164" "UBE3A_001096" "g.25620876A>C" "" "" "" "" "ACMG PM2, PP3; corresponds to NM_130838:c.37T>G:p.Tyr13Asp; methylation and MLPA negative, FraX and VPS13B Seq + MLPA also negative" "Germline" "?" "" "0" "methylation negative" "" "g.25375729A>C" "" "VUS" "ACMG" "0000667575" "0" "90" "15" "25601926" "25601927" "del" "0" "00006" "UBE3A_001099" "g.25601926_25601927del" "" "{PMID:Helbig 2016:26795593}" "" "NM_130838:1811_1812delGT (C604Yfs*23)" "" "De novo" "" "" "0" "" "" "g.25356779_25356780del" "" "pathogenic (dominant)" "ACMG" "0000667694" "21" "90" "15" "25615745" "25615745" "subst" "0" "00006" "UBE3A_001100" "g.25615745G>A" "" "{PMID:Carvill 2013:23708187}" "" "c.1585G>A" "inherited from unaffected mother, affected sib also positive" "Germline" "" "" "0" "" "" "g.25370598G>A" "" "pathogenic (maternal)" "" "0000667715" "0" "50" "15" "25601062" "25601062" "subst" "0" "00006" "UBE3A_001098" "g.25601062G>C" "" "{PMID:Carvill 2013:23708187}" "" "c.2110G>C" "parents unavailable" "Germline/De novo (untested)" "" "" "0" "" "" "g.25355915G>C" "" "VUS" "" "0000680116" "0" "50" "15" "25654340" "25654340" "subst" "0" "02325" "UBE3A_001101" "g.25654340G>A" "" "" "" "UBE3A(NM_001354543.2):c.-357C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000683356" "0" "70" "15" "25601177" "25601177" "del" "0" "00006" "UBE3A_001102" "g.25601177del" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.25356030del" "" "likely pathogenic (dominant)" "" "0000683587" "0" "90" "15" "25616826" "25616826" "del" "0" "00006" "UBE3A_001103" "g.25616826del" "" "{PMID:Anazi 2017:28940097}" "" "" "ACMG PVS1,PP1,PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.25371679del" "" "pathogenic (dominant)" "ACMG" "0000683666" "0" "90" "15" "23684690" "28544611" "del" "0" "00006" "UBE3A_001104" "g.(?_23684690)_(28544611_?)del" "" "{PMID:Mahler 2019:31056085}" "" "del 15q11q13 chr.15:23,684,690-28,544,611x1" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000710197" "21" "90" "15" "25620763" "25620763" "subst" "0" "00006" "UBE3A_001105" "g.25620763G>T" "" "{PMID:Hong 2020:33333793}" "" "NM_130838:219C>A" "ACMG PVS1, PM2, PP3" "Germline" "" "" "0" "" "" "g.25375616G>T" "" "pathogenic (maternal)" "" "0000725004" "0" "90" "15" "25620906" "25620906" "subst" "0" "02327" "UBE3A_001106" "g.25620906G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725005" "0" "30" "15" "25650627" "25650627" "subst" "2.44125E-5" "01943" "UBE3A_001107" "g.25650627C>T" "" "" "" "UBE3A(NM_000462.5):c.52G>A (p.D18N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000785803" "11" "90" "15" "22921610" "33453987" "del" "0" "01864" "UBE3A_001104" "g.22921610_33453987del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "ACMG" "0000787076" "0" "70" "15" "0" "0" "" "0" "00006" "IGF1R_000000" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1480_1481delCA (Gln494AlafsTer11)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000787077" "0" "90" "15" "0" "0" "" "0" "00006" "IGF1R_000000" "g.?" "" "{PMID:Ganapathy 2019:31069529}" "" "c.1811_1812delGT (Cys604TyrfsTer23)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000788908" "0" "70" "15" "25616951" "25616954" "del" "0" "00006" "UBE3A_001088" "g.25616951_25616954del" "" "{PMID:Srivastava 2014:25131622}" "" "NM_130839.1:c.372_375delCTTA" "" "De novo" "" "" "0" "" "" "g.25371804_25371807del" "" "likely pathogenic" "" "0000794785" "0" "70" "15" "25585376" "25585376" "subst" "0" "01164" "UBE3A_001108" "g.25585376C>T" "" "" "" "" "ACMG: PVS1, PS2, PM2_SUP" "De novo" "yes" "" "" "" "" "" "" "likely pathogenic (maternal)" "ACMG" "0000806603" "0" "30" "15" "25601198" "25601198" "subst" "1.62707E-5" "01943" "UBE3A_001109" "g.25601198T>C" "" "" "" "UBE3A(NM_001354543.1):c.1905A>G (p.L635=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806604" "0" "30" "15" "25615920" "25615920" "subst" "1.22128E-5" "01943" "UBE3A_001110" "g.25615920T>C" "" "" "" "UBE3A(NM_001354543.1):c.1341A>G (p.E447=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806605" "0" "30" "15" "25616093" "25616093" "subst" "1.62664E-5" "02326" "UBE3A_001111" "g.25616093A>G" "" "" "" "UBE3A(NM_130838.1):c.1168T>C (p.L390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806606" "0" "30" "15" "25616915" "25616915" "subst" "0" "01943" "UBE3A_001112" "g.25616915A>G" "" "" "" "UBE3A(NM_001354543.1):c.346T>C (p.L116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821034" "0" "90" "15" "25585320" "25585320" "subst" "0" "00006" "UBE3A_001113" "g.25585320G>A" "" "{PMID:Kritioti 2021:34324503}" "" "NM_130839.4:c.2410C>T" "ACMG PVS1, PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.25340173G>A" "" "pathogenic (dominant)" "ACMG" "0000853959" "0" "30" "15" "25605663" "25605663" "subst" "0" "01943" "UBE3A_001115" "g.25605663G>A" "" "" "" "UBE3A(NM_001354543.1):c.1560C>T (p.I520=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863768" "0" "30" "15" "25584289" "25584289" "subst" "0" "01943" "UBE3A_001114" "g.25584289G>A" "" "" "" "UBE3A(NM_001354543.1):c.2554C>T (p.L852=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000891976" "0" "90" "15" "25615817" "25615817" "subst" "0" "02327" "UBE3A_001116" "g.25615817G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000908870" "0" "90" "15" "25601897" "25601897" "subst" "0" "00006" "UBE3A_001117" "g.25601897C>G" "" "{PMID:Bournazos 2022:34906502}" "" "" "cryptic splice acceptor; transcripts cycloheximide sensitive" "Germline" "" "" "0" "" "" "g.25356750C>G" "" "pathogenic (dominant)" "" "0000925938" "0" "50" "15" "25599760" "25599760" "subst" "0" "02329" "UBE3A_001118" "g.25599760C>T" "" "" "" "UBE3A(NM_001354543.2):c.2135G>A (p.R712K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930363" "0" "50" "15" "25584272" "25584272" "subst" "0" "02325" "UBE3A_001119" "g.25584272T>C" "" "" "" "UBE3A(NM_130838.4):c.*12A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930364" "0" "70" "15" "25605532" "25605532" "subst" "0" "02327" "UBE3A_001120" "g.25605532A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000935923" "0" "90" "15" "25584336" "25584337" "del" "0" "00006" "UBE3A_001015" "g.25584336_25584337del" "" "{PMID:Chuan 2022:35571021}" "" "2576_2577delTT" "ACMG PVS1,PM2,PM4" "Germline/De novo (untested)" "" "" "0" "" "" "g.25339189_25339190del" "" "pathogenic (dominant)" "ACMG" "0000936511" "0" "70" "15" "23595001" "28835000" "dup" "0" "00006" "UBE3A_001121" "g.23595001_28835000dup" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000939810" "0" "90" "15" "25615850" "25615854" "del" "0" "00006" "UBE3A_001046" "g.25615850_25615854del" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.25370703_25370707del" "" "pathogenic (dominant)" "" "0000950318" "0" "90" "15" "25615850" "25615854" "del" "0" "02326" "UBE3A_001046" "g.25615850_25615854del" "" "" "" "UBE3A(NM_130838.1):c.1412_1416delATTAT (p.Y471*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967666" "0" "50" "15" "25601173" "25601173" "subst" "0" "02325" "UBE3A_001122" "g.25601173C>T" "" "" "" "UBE3A(NM_130838.4):c.1930G>A (p.E644K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967668" "0" "50" "15" "25615730" "25615730" "subst" "0" "02327" "UBE3A_001123" "g.25615730C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000967670" "0" "30" "15" "25616052" "25616052" "subst" "0.00109453" "01943" "UBE3A_001048" "g.25616052G>A" "" "" "" "UBE3A(NM_000462.5):c.1278C>T (p.D426=), UBE3A(NM_001354543.1):c.1209C>T (p.D403=), UBE3A(NM_130838.1):c.1209C>T (p.D403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981119" "0" "30" "15" "25585225" "25585225" "subst" "4.06184E-6" "01804" "UBE3A_001124" "g.25585225T>C" "" "" "" "UBE3A(NM_130839.5):c.2498+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000981120" "0" "50" "15" "25616152" "25616152" "subst" "4.06309E-6" "01804" "UBE3A_001125" "g.25616152T>C" "" "" "" "UBE3A(NM_130839.5):c.1169A>G (p.(Asn390Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984936" "0" "70" "15" "25616279" "25616279" "dup" "0" "03779" "UBE3A_001126" "g.25616279dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001001253" "0" "90" "15" "25584334" "25584337" "del" "0" "01804" "UBE3A_001091" "g.25584334_25584337del" "" "" "" "UBE3A(NM_001354543.2):c.2507_2510delAAGA (p.K836Rfs*4), UBE3A(NM_130839.2):c.2567_2570delAAGA (p.(Lys856fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001001254" "0" "70" "15" "25601086" "25601086" "subst" "0" "02329" "UBE3A_001127" "g.25601086G>C" "" "" "" "UBE3A(NM_001354543.2):c.2017C>G (p.L673V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001001255" "0" "30" "15" "25616531" "25616531" "subst" "2.0313E-5" "01804" "UBE3A_001128" "g.25616531C>T" "" "" "" "UBE3A(NM_130839.2):c.790G>A (p.(Val264Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001256" "0" "30" "15" "25616719" "25616719" "subst" "4.062E-6" "01804" "UBE3A_001129" "g.25616719T>C" "" "" "" "UBE3A(NM_130838.1):c.542A>G (p.(Glu181Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001001257" "0" "30" "15" "25620677" "25620677" "subst" "4.0625E-6" "01804" "UBE3A_001130" "g.25620677C>T" "" "" "" "UBE3A(NM_130838.1):c.236G>A (p.(Gly79Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001022077" "0" "70" "15" "25605676" "25605676" "subst" "0" "04796" "UBE3A_001082" "g.25605676T>G" "" "" "" "" "effect on RNA exclusion of exon" "Germline/De novo (untested)" "" "" "0" "" "" "g.25360529T>G" "" "likely pathogenic" "" "0001022591" "0" "90" "15" "25599723" "25599727" "dup" "0" "03544" "UBE3A_001131" "g.25599723_25599727dup" "" "" "" "" "" "Germline" "?" "rs587781216" "0" "" "" "g.25354576_25354580dup" "{CV:155967}" "pathogenic" "ACMG" "0001029392" "0" "70" "15" "25599801" "25599804" "del" "0" "01164" "UBE3A_001132" "g.25599801_25599804del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.25354654_25354657del" "" "likely pathogenic (dominant)" "ACMG" "0001040233" "0" "30" "15" "25620679" "25620679" "subst" "0" "01804" "UBE3A_001133" "g.25620679T>A" "" "" "" "UBE3A(NM_130839.5):c.294A>T (p.(Lys98Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040234" "0" "30" "15" "25665801" "25665801" "subst" "0" "01804" "UBE3A_001134" "g.25665801A>C" "" "" "" "UBE3A(NM_001354540.2):c.-554+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes UBE3A ## Count = 267 "{{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}}" "0000036007" "00022268" "55" "1735" "0" "1735" "0" "c.1735G>A" "r.(?)" "p.(Val579Met)" "7" "0000064508" "00022268" "10" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Ala201Thr)" "" "0000064509" "00022268" "50" "30" "-114" "30" "-114" "c.30-114G>C" "r.(=)" "p.(=)" "" "0000064510" "00022268" "90" "1416" "0" "1417" "0" "c.1416_1417del" "r.(?)" "p.(Asn473Glnfs*23)" "" "0000064511" "00022268" "50" "2691" "0" "2691" "0" "c.*63T>C" "r.(=)" "p.(=)" "" "0000064512" "00022268" "10" "72" "-68" "72" "-66" "c.72-68_72-66del" "r.(=)" "p.(=)" "" "0000064513" "00022268" "10" "30" "-47" "30" "-47" "c.30-47dup" "r.(=)" "p.(=)" "" "0000064514" "00022268" "90" "1448" "0" "1448" "0" "c.1448dup" "r.(?)" "p.(Leu484Ilefs*13)" "" "0000064515" "00022268" "50" "1696" "0" "1696" "0" "c.1696G>T" "r.(?)" "p.(Asp566Tyr)" "" "0000064516" "00022268" "10" "2290" "-40" "2290" "-38" "c.2290-40_2290-38del" "r.(=)" "p.(=)" "" "0000064517" "00022268" "10" "1763" "-58" "1763" "-58" "c.1763-58T>G" "r.(=)" "p.(=)" "" "0000064518" "00022268" "10" "1782" "0" "1782" "0" "c.1782A>G" "r.(=)" "p.(=)" "" "0000064519" "00022268" "50" "72" "-73" "72" "-71" "c.72-73_72-71del" "r.(=)" "p.(=)" "" "0000064520" "00022268" "50" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Arg294Gly)" "" "0000064521" "00022268" "90" "2576" "0" "2577" "0" "c.2576_2577del" "r.(?)" "p.(Lys859Argfs*24)" "" "0000130197" "00025775" "90" "2562" "0" "2565" "0" "c.2562_2565dup" "r.(?)" "p.(Lys856Thrfs*2)" "" "0000130197" "00022268" "90" "2572" "0" "2575" "0" "c.2572_2575dup" "r.(?)" "p.(Lys859Thrfs*2)" "" "0000223231" "00022268" "70" "2626" "0" "2640" "0" "c.2626_*12del" "r.(?)" "p.(*876Glnext*39)" "" "0000250714" "00025775" "10" "2124" "9" "2124" "9" "c.2124+9T>C" "r.(=)" "p.(=)" "" "0000250714" "00022268" "10" "2133" "9" "2133" "9" "c.2133+9T>C" "r.(=)" "p.(=)" "" "0000251574" "00025775" "10" "1754" "-58" "1754" "-58" "c.1754-58T>G" "r.(=)" "p.(=)" "" "0000251574" "00022268" "10" "1763" "-58" "1763" "-58" "c.1763-58T>G" "r.(=)" "p.(=)" "" "0000251575" "00025775" "10" "1609" "-52" "1609" "-52" "c.1609-52T>C" "r.(=)" "p.(=)" "" "0000251575" "00022268" "10" "1618" "-52" "1618" "-52" "c.1618-52T>C" "r.(=)" "p.(=)" "" "0000251576" "00025775" "10" "1608" "67" "1608" "67" "c.1608+67T>A" "r.(=)" "p.(=)" "" "0000251576" "00022268" "10" "1617" "67" "1617" "67" "c.1617+67T>A" "r.(=)" "p.(=)" "" "0000253066" "00025775" "30" "2124" "9" "2124" "9" "c.2124+9T>C" "r.(=)" "p.(=)" "" "0000253066" "00022268" "30" "2133" "9" "2133" "9" "c.2133+9T>C" "r.(=)" "p.(=)" "" "0000253476" "00025775" "10" "373" "0" "373" "0" "c.373T>C" "r.(?)" "p.(Leu125=)" "" "0000253476" "00022268" "10" "382" "0" "382" "0" "c.382T>C" "r.(?)" "p.(Leu128=)" "" "0000254470" "00025775" "30" "2376" "0" "2376" "0" "c.2376T>C" "r.(?)" "p.(His792=)" "" "0000254470" "00022268" "30" "2385" "0" "2385" "0" "c.2385T>C" "r.(?)" "p.(His795=)" "" "0000254814" "00025775" "30" "1482" "0" "1482" "0" "c.1482T>C" "r.(?)" "p.(Asn494=)" "" "0000254814" "00022268" "30" "1491" "0" "1491" "0" "c.1491T>C" "r.(?)" "p.(Asn497=)" "" "0000255119" "00025775" "30" "459" "0" "459" "0" "c.459T>C" "r.(?)" "p.(Val153=)" "" "0000255119" "00022268" "30" "468" "0" "468" "0" "c.468T>C" "r.(?)" "p.(Val156=)" "" "0000312928" "00025775" "10" "2618" "0" "2618" "0" "c.2618A>G" "r.(?)" "p.(Ter873=)" "" "0000312928" "00022268" "10" "2627" "0" "2627" "0" "c.2627A>G" "r.(?)" "p.(Ter876=)" "" "0000315172" "00025775" "10" "-164" "-877" "-164" "-877" "c.-164-877A>G" "r.(=)" "p.(=)" "" "0000315172" "00022268" "10" "-220" "-877" "-220" "-877" "c.-220-877A>G" "r.(=)" "p.(=)" "" "0000315173" "00025775" "10" "-164" "-986" "-164" "-986" "c.-164-986A>G" "r.(=)" "p.(=)" "" "0000315173" "00022268" "10" "-220" "-986" "-220" "-986" "c.-220-986A>G" "r.(=)" "p.(=)" "" "0000315174" "00025775" "30" "-658" "0" "-658" "0" "c.-658C>A" "r.(?)" "p.(=)" "" "0000315174" "00022268" "30" "-714" "0" "-714" "0" "c.-714C>A" "r.(?)" "p.(=)" "" "0000315175" "00025775" "30" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Asp423=)" "" "0000315175" "00022268" "30" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Asp426=)" "" "0000315176" "00025775" "70" "1577" "0" "1577" "0" "c.1577G>A" "r.(?)" "p.(Arg526His)" "" "0000315176" "00022268" "70" "1586" "0" "1586" "0" "c.1586G>A" "r.(?)" "p.(Arg529His)" "" "0000315177" "00025775" "10" "1608" "82" "1608" "82" "c.1608+82A>G" "r.(=)" "p.(=)" "" "0000315177" "00022268" "10" "1617" "82" "1617" "82" "c.1617+82A>G" "r.(=)" "p.(=)" "" "0000315179" "00025775" "10" "1773" "0" "1773" "0" "c.1773A>G" "r.(?)" "p.(Glu591=)" "" "0000315179" "00022268" "10" "1782" "0" "1782" "0" "c.1782A>G" "r.(?)" "p.(Glu594=)" "" "0000315180" "00025775" "10" "2124" "107" "2124" "107" "c.2124+107del" "r.(=)" "p.(=)" "" "0000315180" "00022268" "10" "2133" "107" "2133" "107" "c.2133+107del" "r.(=)" "p.(=)" "" "0000315181" "00025775" "10" "2124" "96" "2124" "96" "c.2124+96A>G" "r.(=)" "p.(=)" "" "0000315181" "00022268" "10" "2133" "96" "2133" "96" "c.2133+96A>G" "r.(=)" "p.(=)" "" "0000315182" "00025775" "90" "2125" "-1" "2125" "-1" "c.2125-1G>A" "r.spl?" "p.?" "" "0000315182" "00022268" "90" "2134" "-1" "2134" "-1" "c.2134-1G>A" "r.spl?" "p.?" "" "0000315183" "00025775" "10" "2355" "-121" "2355" "-121" "c.2355-121A>G" "r.(=)" "p.(=)" "" "0000315183" "00022268" "10" "2364" "-121" "2364" "-121" "c.2364-121A>G" "r.(=)" "p.(=)" "" "0000315184" "00025775" "30" "2618" "0" "2618" "0" "c.2618A>G" "r.(?)" "p.(Ter873=)" "" "0000315184" "00022268" "30" "2627" "0" "2627" "0" "c.2627A>G" "r.(?)" "p.(Ter876=)" "" "0000315185" "00025775" "10" "21" "-45" "21" "-45" "c.21-45G>A" "r.(=)" "p.(=)" "" "0000315185" "00022268" "10" "30" "-45" "30" "-45" "c.30-45G>A" "r.(=)" "p.(=)" "" "0000315186" "00025775" "10" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Ala198Thr)" "" "0000315186" "00022268" "10" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Ala201Thr)" "" "0000319199" "00025775" "90" "1170" "0" "1173" "0" "c.1170_1173del" "r.(?)" "p.(Asn390LysfsTer14)" "" "0000319199" "00022268" "90" "1179" "0" "1182" "0" "c.1179_1182del" "r.(?)" "p.(Asn393LysfsTer14)" "" "0000319200" "00025775" "50" "1213" "0" "1213" "0" "c.1213A>T" "r.(?)" "p.(Thr405Ser)" "" "0000319200" "00022268" "50" "1222" "0" "1222" "0" "c.1222A>T" "r.(?)" "p.(Thr408Ser)" "" "0000319201" "00025775" "30" "1185" "0" "1185" "0" "c.1185A>G" "r.(?)" "p.(Glu395=)" "" "0000319201" "00022268" "30" "1194" "0" "1194" "0" "c.1194A>G" "r.(?)" "p.(Glu398=)" "" "0000319202" "00025775" "90" "1405" "0" "1408" "0" "c.1405_1408del" "r.(?)" "p.(Glu469ThrfsTer6)" "" "0000319202" "00022268" "90" "1414" "0" "1417" "0" "c.1414_1417del" "r.(?)" "p.(Glu472ThrfsTer6)" "" "0000319203" "00025775" "90" "1472" "0" "1476" "0" "c.1472_1476del" "r.(?)" "p.(Tyr491Ter)" "" "0000319203" "00022268" "90" "1481" "0" "1485" "0" "c.1481_1485del" "r.(?)" "p.(Tyr494Ter)" "" "0000319204" "00025775" "90" "1540" "0" "1540" "0" "c.1540C>T" "r.(?)" "p.(Gln514Ter)" "" "0000319204" "00022268" "90" "1549" "0" "1549" "0" "c.1549C>T" "r.(?)" "p.(Gln517Ter)" "" "0000319205" "00025775" "30" "1767" "0" "1767" "0" "c.1767C>T" "r.(?)" "p.(Tyr589=)" "" "0000319205" "00022268" "30" "1776" "0" "1776" "0" "c.1776C>T" "r.(?)" "p.(Tyr592=)" "" "0000319206" "00025775" "90" "1786" "0" "1790" "0" "c.1786_1790del" "r.(?)" "p.(Phe596ValfsTer2)" "" "0000319206" "00022268" "90" "1795" "0" "1799" "0" "c.1795_1799del" "r.(?)" "p.(Phe599ValfsTer2)" "" "0000319207" "00025775" "90" "1791" "0" "1791" "0" "c.1791G>A" "r.(?)" "p.(Trp597Ter)" "" "0000319207" "00022268" "90" "1800" "0" "1800" "0" "c.1800G>A" "r.(?)" "p.(Trp600Ter)" "" "0000319209" "00025775" "90" "1960" "-12" "1960" "-6" "c.1960-12_1960-6del" "r.(=)" "p.(=)" "" "0000319209" "00022268" "90" "1969" "-12" "1969" "-6" "c.1969-12_1969-6del" "r.(=)" "p.(=)" "" "0000319210" "00025775" "90" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Gln681Ter)" "" "0000319210" "00022268" "90" "2050" "0" "2050" "0" "c.2050C>T" "r.(?)" "p.(Gln684Ter)" "" "0000319211" "00025775" "30" "2065" "0" "2065" "0" "c.2065A>G" "r.(?)" "p.(Met689Val)" "" "0000319211" "00022268" "30" "2074" "0" "2074" "0" "c.2074A>G" "r.(?)" "p.(Met692Val)" "" "0000319212" "00025775" "90" "2113" "0" "2113" "0" "c.2113G>T" "r.(?)" "p.(Glu705Ter)" "" "0000319212" "00022268" "90" "2122" "0" "2122" "0" "c.2122G>T" "r.(?)" "p.(Glu708Ter)" "" "0000319213" "00025775" "10" "2125" "-96" "2125" "-94" "c.2125-96_2125-94del" "r.(=)" "p.(=)" "" "0000319213" "00022268" "10" "2134" "-96" "2134" "-94" "c.2134-96_2134-94del" "r.(=)" "p.(=)" "" "0000319214" "00025775" "90" "2242" "0" "2242" "0" "c.2242A>T" "r.(?)" "p.(Arg748Ter)" "" "0000319214" "00022268" "90" "2251" "0" "2251" "0" "c.2251A>T" "r.(?)" "p.(Arg751Ter)" "" "0000319215" "00025775" "10" "2281" "-40" "2281" "-38" "c.2281-40_2281-38del" "r.(=)" "p.(=)" "" "0000319215" "00022268" "10" "2290" "-40" "2290" "-38" "c.2290-40_2290-38del" "r.(=)" "p.(=)" "" "0000319216" "00025775" "90" "2371" "0" "2374" "0" "c.2371_2374del" "r.(?)" "p.(Val791IlefsTer26)" "" "0000319216" "00022268" "90" "2380" "0" "2383" "0" "c.2380_2383del" "r.(?)" "p.(Val794IlefsTer26)" "" "0000319217" "00025775" "10" "2499" "-34" "2499" "-34" "c.2499-34del" "r.(=)" "p.(=)" "" "0000319217" "00022268" "10" "2508" "-34" "2508" "-34" "c.2508-34del" "r.(=)" "p.(=)" "" "0000319220" "00025775" "90" "2563" "0" "2568" "0" "c.2563_2568del" "r.(?)" "p.(Leu855_Lys856del)" "" "0000319220" "00022268" "90" "2572" "0" "2577" "0" "c.2572_2577del" "r.(?)" "p.(Leu858_Lys859del)" "" "0000319221" "00025775" "10" "2618" "0" "2618" "0" "c.2618A>G" "r.(?)" "p.(Ter873=)" "" "0000319221" "00022268" "10" "2627" "0" "2627" "0" "c.2627A>G" "r.(?)" "p.(Ter876=)" "" "0000319222" "00025775" "10" "362" "-198" "362" "-198" "c.362-198del" "r.(=)" "p.(=)" "" "0000319222" "00022268" "10" "371" "-198" "371" "-198" "c.371-198del" "r.(=)" "p.(=)" "" "0000319223" "00025775" "90" "422" "0" "423" "0" "c.422_423del" "r.(?)" "p.(Glu141GlyfsTer15)" "" "0000319223" "00022268" "90" "431" "0" "432" "0" "c.431_432del" "r.(?)" "p.(Glu144GlyfsTer15)" "" "0000319224" "00025775" "10" "477" "0" "477" "0" "c.477A>T" "r.(?)" "p.(Ala159=)" "" "0000319224" "00022268" "10" "486" "0" "486" "0" "c.486A>T" "r.(?)" "p.(Ala162=)" "" "0000319225" "00025775" "30" "574" "0" "574" "0" "c.574A>G" "r.(?)" "p.(Lys192Glu)" "" "0000319225" "00022268" "30" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Lys195Glu)" "" "0000319226" "00025775" "10" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Ala198Thr)" "" "0000319226" "00022268" "10" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Ala201Thr)" "" "0000319227" "00025775" "30" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Ala197Ser)" "" "0000319227" "00022268" "30" "598" "0" "598" "0" "c.598G>T" "r.(?)" "p.(Ala200Ser)" "" "0000319228" "00025775" "30" "789" "0" "789" "0" "c.789C>T" "r.(?)" "p.(Asn263=)" "" "0000319228" "00022268" "30" "798" "0" "798" "0" "c.798C>T" "r.(?)" "p.(Asn266=)" "" "0000319229" "00025775" "50" "815" "0" "815" "0" "c.815A>G" "r.(?)" "p.(Asn272Ser)" "" "0000319229" "00022268" "50" "824" "0" "824" "0" "c.824A>G" "r.(?)" "p.(Asn275Ser)" "" "0000319231" "00025775" "50" "20" "447" "20" "447" "c.20+447A>G" "r.(=)" "p.(=)" "" "0000319231" "00022268" "50" "8" "0" "8" "0" "c.8A>G" "r.(?)" "p.(Lys3Arg)" "" "0000319232" "00025775" "90" "1032" "0" "1038" "0" "c.1032_1038del" "r.(?)" "p.(Thr345LysfsTer3)" "" "0000319232" "00022268" "90" "1041" "0" "1047" "0" "c.1041_1047del" "r.(?)" "p.(Thr348LysfsTer3)" "" "0000323938" "00025775" "10" "592" "0" "592" "0" "c.592G>A" "r.(?)" "p.(Ala198Thr)" "" "0000323938" "00022268" "10" "601" "0" "601" "0" "c.601G>A" "r.(?)" "p.(Ala201Thr)" "" "0000323940" "00025775" "50" "20" "447" "20" "447" "c.20+447A>G" "r.(=)" "p.(=)" "" "0000323940" "00022268" "50" "8" "0" "8" "0" "c.8A>G" "r.(?)" "p.(Lys3Arg)" "" "0000337631" "00025775" "10" "2124" "9" "2124" "9" "c.2124+9T>C" "r.(=)" "p.(=)" "" "0000337631" "00022268" "10" "2133" "9" "2133" "9" "c.2133+9T>C" "r.(=)" "p.(=)" "" "0000339766" "00025775" "10" "2618" "0" "2618" "0" "c.2618A>G" "r.(?)" "p.(Ter873=)" "" "0000339766" "00022268" "10" "2627" "0" "2627" "0" "c.2627A>G" "r.(?)" "p.(Ter876=)" "" "0000339767" "00025775" "10" "1767" "0" "1767" "0" "c.1767C>T" "r.(?)" "p.(Tyr589=)" "" "0000339767" "00022268" "10" "1776" "0" "1776" "0" "c.1776C>T" "r.(?)" "p.(Tyr592=)" "" "0000346192" "00025775" "50" "1838" "0" "1838" "0" "c.1838G>T" "r.(?)" "p.(Gly613Val)" "" "0000346192" "00022268" "50" "1847" "0" "1847" "0" "c.1847G>T" "r.(?)" "p.(Gly616Val)" "" "0000369306" "00022268" "90" "1978" "0" "1978" "0" "c.1978C>T" "r.(?)" "p.(Gln660*)" "" "0000404696" "00022268" "70" "2513" "0" "2525" "0" "c.2513_2525dup" "r.(?)" "p.(Cys843Tyrfs*7)" "14" "0000404697" "00022268" "90" "2281" "0" "2281" "0" "c.2281G>A" "r.(?)" "p.(Gly761Arg)" "12" "0000408754" "00022268" "90" "2618" "0" "2618" "0" "c.2618G>A" "r.(?)" "p.(Gly873Asp)" "14" "0000472245" "00022268" "90" "281" "0" "281" "0" "c.281C>G" "r.(?)" "p.(Ser94*)" "" "0000553718" "00025775" "90" "2563" "0" "2566" "0" "c.2563_2566dup" "r.(?)" "p.(Lys856ThrfsTer2)" "" "0000553718" "00022268" "90" "2572" "0" "2575" "0" "c.2572_2575dup" "r.(?)" "p.(Lys859ThrfsTer2)" "" "0000553719" "00025775" "90" "2547" "0" "2550" "0" "c.2547_2550dup" "r.(?)" "p.(Ser851LeufsTer7)" "" "0000553719" "00022268" "90" "2556" "0" "2559" "0" "c.2556_2559dup" "r.(?)" "p.(Ser854LeufsTer7)" "" "0000553720" "00025775" "30" "2415" "0" "2415" "0" "c.2415T>C" "r.(?)" "p.(Phe805=)" "" "0000553720" "00022268" "30" "2424" "0" "2424" "0" "c.2424T>C" "r.(?)" "p.(Phe808=)" "" "0000553721" "00025775" "90" "2045" "0" "2048" "0" "c.2045_2048dup" "r.(?)" "p.(Leu684ArgfsTer5)" "" "0000553721" "00022268" "90" "2054" "0" "2057" "0" "c.2054_2057dup" "r.(?)" "p.(Leu687ArgfsTer5)" "" "0000553722" "00025775" "90" "1799" "0" "1803" "0" "c.1799_1803dup" "r.(?)" "p.(Ser602HisfsTer12)" "" "0000553722" "00022268" "90" "1808" "0" "1812" "0" "c.1808_1812dup" "r.(?)" "p.(Ser605HisfsTer12)" "" "0000553723" "00025775" "30" "1767" "0" "1767" "0" "c.1767C>T" "r.(?)" "p.(Tyr589=)" "" "0000553723" "00022268" "30" "1776" "0" "1776" "0" "c.1776C>T" "r.(?)" "p.(Tyr592=)" "" "0000553724" "00025775" "10" "1753" "50" "1753" "53" "c.1753+50_1753+53del" "r.(=)" "p.(=)" "" "0000553724" "00022268" "10" "1762" "50" "1762" "53" "c.1762+50_1762+53del" "r.(=)" "p.(=)" "" "0000553725" "00025775" "50" "1609" "-2" "1609" "-2" "c.1609-2A>C" "r.spl?" "p.?" "" "0000553725" "00022268" "50" "1618" "-2" "1618" "-2" "c.1618-2A>C" "r.spl?" "p.?" "" "0000553726" "00025775" "10" "1609" "-51" "1609" "-51" "c.1609-51dup" "r.(=)" "p.(=)" "" "0000553726" "00022268" "10" "1618" "-51" "1618" "-51" "c.1618-51dup" "r.(=)" "p.(=)" "" "0000553727" "00025775" "10" "1404" "0" "1404" "0" "c.1404A>G" "r.(?)" "p.(Thr468=)" "" "0000553727" "00022268" "10" "1413" "0" "1413" "0" "c.1413A>G" "r.(?)" "p.(Thr471=)" "" "0000553729" "00025775" "30" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Asn329Ser)" "" "0000553729" "00022268" "30" "995" "0" "995" "0" "c.995A>G" "r.(?)" "p.(Asn332Ser)" "" "0000553730" "00025775" "90" "938" "0" "938" "0" "c.938dup" "r.(?)" "p.(Pro314ThrfsTer14)" "" "0000553730" "00022268" "90" "947" "0" "947" "0" "c.947dup" "r.(?)" "p.(Pro317ThrfsTer14)" "" "0000553731" "00025775" "70" "397" "0" "397" "0" "c.397del" "r.(?)" "p.(Ile133PhefsTer14)" "" "0000553731" "00022268" "70" "406" "0" "406" "0" "c.406del" "r.(?)" "p.(Ile136PhefsTer14)" "" "0000553732" "00025775" "90" "372" "0" "375" "0" "c.372_375del" "r.(?)" "p.(Tyr124Ter)" "" "0000553732" "00022268" "90" "381" "0" "384" "0" "c.381_384del" "r.(?)" "p.(Tyr127Ter)" "" "0000553733" "00025775" "30" "20" "463" "20" "463" "c.20+463T>C" "r.(=)" "p.(=)" "" "0000553733" "00022268" "30" "24" "0" "24" "0" "c.24T>C" "r.(?)" "p.(Tyr8=)" "" "0000553734" "00025775" "50" "20" "402" "20" "402" "c.20+402A>G" "r.(=)" "p.(=)" "" "0000553734" "00022268" "50" "-36" "-2" "-36" "-2" "c.-36-2A>G" "r.spl?" "p.?" "" "0000615194" "00025775" "70" "2567" "0" "2570" "0" "c.2567_2570del" "r.(?)" "p.(Lys856ArgfsTer4)" "" "0000615194" "00022268" "70" "2576" "0" "2579" "0" "c.2576_2579del" "r.(?)" "p.(Lys859ArgfsTer4)" "" "0000615195" "00025775" "90" "2567" "0" "2570" "0" "c.2567_2570del" "r.(?)" "p.(Lys856ArgfsTer4)" "" "0000615195" "00022268" "90" "2576" "0" "2579" "0" "c.2576_2579del" "r.(?)" "p.(Lys859ArgfsTer4)" "" "0000615196" "00025775" "50" "2420" "0" "2420" "0" "c.2420C>T" "r.(?)" "p.(Thr807Met)" "" "0000615196" "00022268" "50" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Thr810Met)" "" "0000615197" "00025775" "30" "1338" "0" "1338" "0" "c.1338T>C" "r.(?)" "p.(Phe446=)" "" "0000615197" "00022268" "30" "1347" "0" "1347" "0" "c.1347T>C" "r.(?)" "p.(Phe449=)" "" "0000623195" "00025775" "30" "986" "0" "986" "0" "c.986A>G" "r.(?)" "p.(Asn329Ser)" "" "0000623195" "00022268" "30" "995" "0" "995" "0" "c.995A>G" "r.(?)" "p.(Asn332Ser)" "" "0000631949" "00022268" "90" "544" "0" "544" "0" "c.544C>T" "r.(?)" "p.(Gln182*)" "" "0000653216" "00025775" "90" "62" "1" "62" "2" "c.62+1_62+2insAA" "r.spl?" "p.?" "" "0000653216" "00022268" "90" "71" "1" "71" "2" "c.71+1_71+2insAA" "r.spl?" "p.?" "" "0000657535" "00025775" "30" "927" "0" "927" "0" "c.927G>A" "r.(?)" "p.(Ala309=)" "" "0000657535" "00022268" "30" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Ala312=)" "" "0000659537" "00022268" "70" "106" "0" "106" "0" "c.106T>G" "r.(?)" "p.(Tyr36Asp)" "" "0000667575" "00022268" "90" "1880" "0" "1881" "0" "c.1880_1881del" "r.(?)" "p.(Cys627Tyrfs*23)" "" "0000667694" "00022268" "90" "1585" "0" "1585" "0" "c.1585C>T" "r.(?)" "p.(Arg529Cys)" "" "0000667715" "00022268" "50" "2110" "0" "2110" "0" "c.2110C>G" "r.(?)" "p.(Pro704Ala)" "" "0000680116" "00025775" "50" "-86" "0" "-86" "0" "c.-86C>T" "r.(?)" "p.(=)" "" "0000680116" "00022268" "50" "-142" "0" "-142" "0" "c.-142C>T" "r.(?)" "p.(=)" "" "0000683356" "00022268" "70" "1995" "0" "1995" "0" "c.1995del" "r.(?)" "p.(Leu665Phefs*12)" "" "0000683587" "00022268" "90" "504" "0" "504" "0" "c.504del" "r.(?)" "p.(Val170Leufs*9)" "" "0000683666" "00022268" "90" "0" "0" "0" "0" "c.-760_*1888{0}" "r.0" "p.0" "_1_14_" "0000710197" "00022268" "90" "288" "0" "288" "0" "c.288C>A" "r.(?)" "p.(Tyr96*)" "" "0000725004" "00025775" "90" "67" "0" "67" "0" "c.67C>T" "r.(?)" "p.(Arg23*)" "" "0000725004" "00022268" "90" "76" "0" "76" "0" "c.76C>T" "r.(?)" "p.(Arg26*)" "" "0000725005" "00025775" "30" "43" "0" "43" "0" "c.43G>A" "r.(?)" "p.(Asp15Asn)" "" "0000725005" "00022268" "30" "52" "0" "52" "0" "c.52G>A" "r.(?)" "p.(Asp18Asn)" "" "0000785803" "00022268" "90" "0" "0" "0" "0" "c.-760_*1888{0}" "r.0" "p.0" "_1_14_" "0000787076" "00022268" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "3" "0000787077" "00022268" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "5" "0000788908" "00022268" "70" "381" "0" "384" "0" "c.381_384del" "r.(?)" "p.(Tyr127Ter)" "" "0000794785" "00022268" "70" "2364" "-1" "2364" "-1" "c.2364-1G>A" "r.spl?" "p.?" "" "0000806603" "00025775" "30" "1965" "0" "1965" "0" "c.1965A>G" "r.(?)" "p.(Leu655=)" "" "0000806603" "00022268" "30" "1974" "0" "1974" "0" "c.1974A>G" "r.(?)" "p.(Leu658=)" "" "0000806604" "00025775" "30" "1401" "0" "1401" "0" "c.1401A>G" "r.(?)" "p.(Glu467=)" "" "0000806604" "00022268" "30" "1410" "0" "1410" "0" "c.1410A>G" "r.(?)" "p.(Glu470=)" "" "0000806605" "00025775" "30" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Leu410=)" "" "0000806605" "00022268" "30" "1237" "0" "1237" "0" "c.1237T>C" "r.(?)" "p.(Leu413=)" "" "0000806606" "00025775" "30" "406" "0" "406" "0" "c.406T>C" "r.(?)" "p.(Leu136=)" "" "0000806606" "00022268" "30" "415" "0" "415" "0" "c.415T>C" "r.(?)" "p.(Leu139=)" "" "0000821034" "00022268" "90" "2419" "0" "2419" "0" "c.2419C>T" "r.(?)" "p.(Gln807Ter)" "12" "0000853959" "00025775" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Ile540=)" "" "0000853959" "00022268" "30" "1629" "0" "1629" "0" "c.1629C>T" "r.(?)" "p.(Ile543=)" "" "0000863768" "00025775" "30" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Leu872=)" "" "0000863768" "00022268" "30" "2623" "0" "2623" "0" "c.2623C>T" "r.(?)" "p.(Leu875=)" "" "0000891976" "00025775" "90" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Arg502*)" "" "0000891976" "00022268" "90" "1513" "0" "1513" "0" "c.1513C>T" "r.(?)" "p.(Arg505*)" "" "0000908870" "00025775" "90" "1900" "0" "1900" "0" "c.1900G>C" "r.1900delins[1900-38_1900-1;c]" "p.Val634Phefs*19" "" "0000925938" "00025775" "50" "2195" "0" "2195" "0" "c.2195G>A" "r.(?)" "p.(Arg732Lys)" "" "0000925938" "00022268" "50" "2204" "0" "2204" "0" "c.2204G>A" "r.(?)" "p.(Arg735Lys)" "" "0000930363" "00025775" "50" "2631" "0" "2631" "0" "c.*12A>G" "r.(=)" "p.(=)" "" "0000930363" "00022268" "50" "2640" "0" "2640" "0" "c.*12A>G" "r.(=)" "p.(=)" "" "0000930364" "00025775" "70" "1751" "0" "1751" "0" "c.1751T>C" "r.(?)" "p.(Ile584Thr)" "" "0000930364" "00022268" "70" "1760" "0" "1760" "0" "c.1760T>C" "r.(?)" "p.(Ile587Thr)" "" "0000935923" "00025775" "90" "2566" "0" "2567" "0" "c.2566_2567del" "r.(?)" "p.(Lys856Argfs*24)" "" "0000935923" "00022268" "90" "2575" "0" "2576" "0" "c.2575_2576del" "r.(?)" "p.(Lys859Argfs*24)" "" "0000936511" "00025775" "70" "0" "0" "0" "0" "c.-704_*1888{2}" "r.?" "p.?" "_1_13_" "0000936511" "00022268" "70" "0" "0" "0" "0" "c.-760_*1888{2}" "r.?" "p.?" "_1_14_" "0000939810" "00022268" "90" "1481" "0" "1485" "0" "c.1481_1485del" "r.(?)" "p.(Tyr494Ter)" "7" "0000950318" "00025775" "90" "1472" "0" "1476" "0" "c.1472_1476del" "r.(?)" "p.(Tyr491Ter)" "" "0000950318" "00022268" "90" "1481" "0" "1485" "0" "c.1481_1485del" "r.(?)" "p.(Tyr494Ter)" "" "0000967666" "00025775" "50" "1990" "0" "1990" "0" "c.1990G>A" "r.(?)" "p.(Glu664Lys)" "" "0000967666" "00022268" "50" "1999" "0" "1999" "0" "c.1999G>A" "r.(?)" "p.(Glu667Lys)" "" "0000967668" "00025775" "50" "1591" "0" "1591" "0" "c.1591G>A" "r.(?)" "p.(Asp531Asn)" "" "0000967668" "00022268" "50" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Asp534Asn)" "" "0000967670" "00025775" "30" "1269" "0" "1269" "0" "c.1269C>T" "r.(?)" "p.(Asp423=)" "" "0000967670" "00022268" "30" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Asp426=)" "" "0000981119" "00025775" "30" "2498" "7" "2498" "7" "c.2498+7A>G" "r.(=)" "p.(=)" "" "0000981119" "00022268" "30" "2507" "7" "2507" "7" "c.2507+7A>G" "r.(=)" "p.(=)" "" "0000981120" "00025775" "50" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Asn390Ser)" "" "0000981120" "00022268" "50" "1178" "0" "1178" "0" "c.1178A>G" "r.(?)" "p.(Asn393Ser)" "" "0000984936" "00025775" "70" "1042" "0" "1042" "0" "c.1042dup" "r.(?)" "p.(Val348GlyfsTer5)" "" "0001001253" "00025775" "90" "2567" "0" "2570" "0" "c.2567_2570del" "r.(?)" "p.(Lys856ArgfsTer4)" "" "0001001253" "00022268" "90" "2576" "0" "2579" "0" "c.2576_2579del" "r.(?)" "p.(Lys859ArgfsTer4)" "" "0001001254" "00025775" "70" "2077" "0" "2077" "0" "c.2077C>G" "r.(?)" "p.(Leu693Val)" "" "0001001254" "00022268" "70" "2086" "0" "2086" "0" "c.2086C>G" "r.(?)" "p.(Leu696Val)" "" "0001001255" "00025775" "30" "790" "0" "790" "0" "c.790G>A" "r.(?)" "p.(Val264Met)" "" "0001001255" "00022268" "30" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Val267Met)" "" "0001001256" "00025775" "30" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(Glu201Gly)" "" "0001001256" "00022268" "30" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Glu204Gly)" "" "0001001257" "00025775" "30" "296" "0" "296" "0" "c.296G>A" "r.(?)" "p.(Gly99Asp)" "" "0001001257" "00022268" "30" "305" "0" "305" "0" "c.305G>A" "r.(?)" "p.(Gly102Asp)" "" "0001022077" "00022268" "70" "1618" "-2" "1618" "-2" "c.1618-2A>C" "r.[1618_1621del,=]" "p.[Leu540ArgfsTer2,=]" "6i" "0001022591" "00025775" "90" "2230" "0" "2234" "0" "c.2230_2234dup" "r.(?)" "p.(Tyr745*)" "10" "0001029392" "00025775" "70" "2152" "0" "2155" "0" "c.2152_2155del" "r.(?)" "p.(Ile718Serfs*5)" "" "0001029392" "00022268" "70" "2161" "0" "2164" "0" "c.2161_2164del" "r.(?)" "p.(Ile721Serfs*5)" "10" "0001040233" "00025775" "30" "294" "0" "294" "0" "c.294A>T" "r.(?)" "p.(Lys98Asn)" "" "0001040233" "00022268" "30" "303" "0" "303" "0" "c.303A>T" "r.(?)" "p.(Lys101Asn)" "" "0001040234" "00025775" "30" "-164" "-8683" "-164" "-8683" "c.-164-8683T>G" "r.(=)" "p.(=)" "" "0001040234" "00022268" "30" "-220" "-8683" "-220" "-8683" "c.-220-8683T>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000016260" "0000036007" "0000037383" "0000064508" "0000037384" "0000064509" "0000037385" "0000064510" "0000037386" "0000064511" "0000037387" "0000064512" "0000037388" "0000064513" "0000037389" "0000064514" "0000037390" "0000064515" "0000037391" "0000064516" "0000037392" "0000064517" "0000037393" "0000064518" "0000037394" "0000064519" "0000037395" "0000064520" "0000037396" "0000064521" "0000081111" "0000130197" "0000133803" "0000223231" "0000165581" "0000369306" "0000181060" "0000404696" "0000181061" "0000404697" "0000184631" "0000408754" "0000230670" "0000472245" "0000277205" "0000631949" "0000296527" "0000653216" "0000296888" "0000659537" "0000304177" "0000667575" "0000304266" "0000667694" "0000304287" "0000667715" "0000308922" "0000683356" "0000309124" "0000683587" "0000309166" "0000683666" "0000326612" "0000710197" "0000374891" "0000785803" "0000375725" "0000787076" "0000375726" "0000787077" "0000376853" "0000788908" "0000381369" "0000794785" "0000391296" "0000821034" "0000429397" "0000908870" "0000439794" "0000935923" "0000440204" "0000936511" "0000441868" "0000939810" "0000462550" "0001022077" "0000462938" "0001022591" "0000465697" "0001029392"