### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KMT2B) # 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}}" "KMT2B" "lysine methyltransferase 2B" "19" "q13.12" "unknown" "NG_052906.1" "UD_145627867414" "" "https://www.LOVD.nl/KMT2B" "" "1" "15840" "9757" "606834" "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/KMT2B_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2017-08-08 00:00:00" "00006" "2025-01-22 11:38:15" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00024655" "KMT2B" "lysine (K)-specific methyltransferase 2B" "001" "NM_014727.1" "" "NP_055542.1" "" "" "" "1" "8469" "8148" "36208921" "36229779" "00000" "2017-08-08 13:22:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00108" "DYT" "dystonia (DYT)" "" "" "" "" "" "00054" "2013-01-24 21:46:00" "00006" "2018-04-03 21:21:00" "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" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05849" "DYT28" "dystonia, type 28, childhood-onset (DYT28)" "AD" "617284" "" "" "" "00006" "2020-09-30 10:31:09" "" "" "07146" "MRD68" "intellectual developmental disorder, autosomal dominant, type 68" "AD" "619934" "" "" "" "00006" "2025-01-22 11:37:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "KMT2B" "00108" "KMT2B" "00139" "KMT2B" "05849" "KMT2B" "07146" ## 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}}" "00288203" "" "" "" "1" "" "00006" "{PMID:Lee 2019:31607746}" "" "" "" "United States" "" "0" "" "" "" "Pat13" "00296383" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00299703" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00306236" "" "" "" "1" "" "03670" "{PMID:Nakamura 2020:32877735}" "" "F" "no" "Japan" "" "0" "" "" "Japanese" "patient" "00311422" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "F" "" "" "" "0" "" "" "" "Pat1" "00311951" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311952" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311953" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311954" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311955" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311956" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311957" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311958" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311959" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311960" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311961" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311962" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311963" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311964" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311965" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311966" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00311967" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "" "00312030" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER326751" "00312031" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER285201" "00312032" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER326759" "00312033" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER326752" "00312034" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER257844" "00312035" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER339538" "00312036" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER285198" "00312037" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER295701" "00312038" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER280902" "00312039" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER285035" "00312040" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER326748" "00312041" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER285200" "00312042" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER285199" "00312043" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER326749" "00312044" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER295183" "00312045" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER326750" "00312046" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER317705" "00312047" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "DECIPHER3776" "00391790" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "171P" "00398354" "" "" "" "1" "cc_by-nc-nd_4.0;1" "04233" "" "" "M" "" "" "" "0" "" "" "" "" "00399242" "" "" "" "1" "" "00006" "{PMID:Martin 2017:29220673}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "" "Pat1" "00453423" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "0" "" "" "white" "" "00460229" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "313001" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 45 "{{individualid}}" "{{diseaseid}}" "00288203" "00198" "00296383" "00198" "00299703" "00198" "00306236" "00108" "00311422" "05611" "00311951" "00198" "00311952" "00198" "00311953" "00198" "00311954" "00198" "00311955" "00198" "00311956" "00198" "00311957" "00198" "00311958" "00198" "00311959" "00198" "00311960" "00198" "00311961" "00198" "00311962" "00198" "00311963" "00198" "00311964" "00198" "00311965" "00198" "00311966" "00198" "00311967" "00198" "00312030" "00198" "00312031" "00198" "00312032" "00198" "00312033" "00198" "00312034" "00198" "00312035" "00198" "00312036" "00198" "00312037" "00198" "00312038" "00198" "00312039" "00198" "00312040" "00198" "00312041" "00198" "00312042" "00198" "00312043" "00198" "00312044" "00198" "00312045" "00198" "00312046" "00198" "00312047" "00198" "00391790" "05849" "00398354" "05849" "00399242" "00139" "00453423" "00108" "00460229" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00108, 00139, 00198, 05611, 05849, 07146 ## Count = 27 "{{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}}" "0000221940" "00198" "00288203" "00006" "Isolated (sporadic)" "10y" "adenoidal hypertrophy, flexion contracture, muscle stiffness, spastic gait, dysphonia, dystonia, chorea, involuntary movements, scissor gait, bradykinesia, paroxysmal dyskinesia, precocious puberty" "" "" "" "" "" "" "" "" "" "" "" "0000223797" "00198" "00296383" "01164" "Unknown" "" "Generalized dystonia (HP:0007325); Abnormality of the face (HP:0000271); Abnormality of the peripheral nervous system (HP:0410008)" "" "" "" "" "" "" "" "" "" "" "" "0000227008" "00198" "00299703" "01807" "Unknown" "" "Dystonia (HP:0001332); Generalized dystonia (HP:0007325); Laryngeal dystonia (HP:0012049)" "" "" "" "" "" "" "" "" "" "" "" "0000236669" "05611" "00311422" "00006" "Isolated (sporadic)" "11y" "intra-uterine growth retardation, feeding difficulties; severe developmental delay/intellectual disability; abnormal gait, behavioral problems; patent ductus arteriosus, long hands, narrow hands, broad halluces; short stature (SD -2.7), low weight (SD -2.9), microcephaly (SD -3.34); craniofacial dysmorphisms; nystagmus, gastrostomy, urinary incontinence, constipation, growth hormone deficiency" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000237159" "00198" "00312030" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237160" "00198" "00312031" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237161" "00198" "00312032" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237162" "00198" "00312033" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237163" "00198" "00312034" "00006" "Unknown" "" "macrotia, adrenal hypoplasia, hypothyroidism, ptosis, downturned corners of mouth, long palpebral fissure, micrognathia, aplasia/hypoplasia skin, long eyelashes, intellectual disability, intra uterine growth retardation" "" "" "" "" "" "" "" "" "" "" "" "0000237164" "00198" "00312035" "00006" "Unknown" "" "growth delay, hyperactivity, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000237165" "00198" "00312036" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237166" "00198" "00312037" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237167" "00198" "00312038" "00006" "Unknown" "" "fine hair, dystonia" "" "" "" "" "" "" "" "" "" "" "" "0000237168" "00198" "00312039" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237169" "00198" "00312040" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237170" "00198" "00312041" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237171" "00198" "00312042" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237172" "00198" "00312043" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237173" "00198" "00312044" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237174" "00198" "00312045" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237175" "00198" "00312046" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000237176" "00198" "00312047" "00006" "Unknown" "" "feeding difficulties in infancy, hypospadias, short stature, microcephaly, aplasia cutis congenita of scalp, intellectual disability" "" "" "" "" "" "" "" "" "" "" "" "0000291475" "05849" "00398354" "04233" "Isolated (sporadic)" "21y" "craniofacial dystonia (HP:0012179)" "09y" "20y" "craniofacial dystonia (HP:0012179)" "" "" "" "" "" "DYT28" "dystonia" "" "0000292354" "00139" "00399242" "00006" "Isolated (sporadic)" "15y" "see paper; ..., prenatal period unremarkable pregnancy after IVF, birth 40w, weight 3,755 g (62P), length 53 cm (59P); neonatal stiffness (stiff baby syndrome), irritability, excessive startle reflex; no congenital anomalies; normal postnatal growth; mild to moderate developmental delay; speech with dysarthria; MRI brain normal; interaction with adults, reduced attention span, tension with irritability, anxiety; muscle hyperekplexia with exaggerated head-retraction reflex, stiffness, hypertonia; difficulties walking in straight line, stiff gait, ability to run; no seizures, but severe contraction burst in relation to trauma; large ears; EEG normal; sleeping problems in childhood" "" "" "" "" "" "" "" "" "NEDSGA" "intellectual disability" "" "0000342086" "00108" "00453423" "03544" "Isolated (sporadic)" "" "HP:0001332, HP:0002510" "" "" "" "" "" "" "" "" "" "dystonia" "" "0000346686" "00108" "00306236" "00006" "Isolated (sporadic)" "15y" "see paper; ..." "" "" "" "" "" "" "" "" "DYT28" "dystonia" "" "0000347958" "00139" "00460229" "01164" "Isolated (sporadic)" "04y" "Upslanted palpebral fissure, Neurodevelopmental delay, Delayed speech and language development, Atypical behavior, Short stature, Failure to thrive, Clinodactyly of the 5th finger" "" "" "" "" "" "" "" "" "MRD68" "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}}" "0000289372" "00288203" "1" "00006" "00006" "2020-02-16 14:03:09" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000297494" "00296383" "1" "01164" "01164" "2020-04-06 09:47:45" "" "" "SEQ-NG-S" "DNA" "" "" "0000300813" "00299703" "1" "01807" "01807" "2020-04-20 10:39:01" "" "" "SEQ" "DNA" "" "" "0000307372" "00306236" "1" "03670" "03670" "2020-07-12 07:45:15" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000312592" "00311422" "1" "00006" "00006" "2020-09-25 11:13:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000313123" "00311951" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313124" "00311952" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313125" "00311953" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313126" "00311954" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313127" "00311955" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313128" "00311956" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313129" "00311957" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313130" "00311958" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313131" "00311959" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313132" "00311960" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313133" "00311961" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313134" "00311962" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313135" "00311963" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313136" "00311964" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313137" "00311965" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313138" "00311966" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313139" "00311967" "1" "00006" "00006" "2020-09-30 10:22:10" "" "" "SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000313202" "00312030" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313203" "00312031" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313204" "00312032" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313205" "00312033" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313206" "00312034" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313207" "00312035" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313208" "00312036" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313209" "00312037" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313210" "00312038" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313211" "00312039" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313212" "00312040" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313213" "00312041" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313214" "00312042" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313215" "00312043" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313216" "00312044" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313217" "00312045" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313218" "00312046" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000313219" "00312047" "1" "00006" "00006" "2020-09-30 12:05:07" "" "" "arrayCGH" "DNA" "" "" "0000393033" "00391790" "1" "02494" "02494" "2021-11-19 10:57:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000399600" "00398354" "1" "04233" "04233" "2022-01-05 03:22:31" "" "" "SEQ-NG" "DNA" "" "Blueprint Genetics Dystonia (version 3) Panel Plus Analysis" "0000400486" "00399242" "1" "00006" "00006" "2022-01-17 18:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455034" "00453423" "1" "03544" "03544" "2024-08-25 13:48:56" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000461860" "00460229" "1" "01164" "01164" "2025-01-22 11:26:45" "" "" "SEQ-NG-H" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{geneid}}" "0000289372" "KMT2B" "0000307372" "KMT2B" "0000312592" "KMT2B" "0000313123" "KMT2B" "0000313124" "KMT2B" "0000313125" "KMT2B" "0000313126" "KMT2B" "0000313127" "KMT2B" "0000313128" "KMT2B" "0000313129" "KMT2B" "0000313130" "KMT2B" "0000313131" "KMT2B" "0000313132" "KMT2B" "0000313133" "KMT2B" "0000313134" "KMT2B" "0000313135" "KMT2B" "0000313136" "KMT2B" "0000313137" "KMT2B" "0000313138" "KMT2B" "0000313139" "KMT2B" "0000313202" "KMT2B" "0000313203" "KMT2B" "0000313204" "KMT2B" "0000313205" "KMT2B" "0000313206" "KMT2B" "0000313207" "KMT2B" "0000313208" "KMT2B" "0000313209" "KMT2B" "0000313210" "KMT2B" "0000313211" "KMT2B" "0000313212" "KMT2B" "0000313213" "KMT2B" "0000313214" "KMT2B" "0000313215" "KMT2B" "0000313216" "KMT2B" "0000313217" "KMT2B" "0000313218" "KMT2B" "0000313219" "KMT2B" "0000399600" "KMT2B" "0000461860" "KMT2B" ## 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 = 244 "{{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}}" "0000283500" "0" "50" "19" "36211815" "36211815" "subst" "0" "02329" "KMT2B_000003" "g.36211815G>C" "" "" "" "KMT2B(NM_014727.3):c.1566G>C (p.K522N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35720913G>C" "" "VUS" "" "0000290425" "0" "30" "19" "36209226" "36209226" "subst" "0" "01943" "KMT2B_000002" "g.36209226C>A" "" "" "" "KMT2B(NM_014727.2):c.306C>A (p.G102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35718324C>A" "" "likely benign" "" "0000290426" "0" "50" "19" "36214651" "36214651" "subst" "0" "01943" "KMT2B_000006" "g.36214651C>T" "" "" "" "KMT2B(NM_014727.2):c.3077C>T (p.T1026M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35723750C>T" "" "VUS" "" "0000290427" "0" "30" "19" "36223501" "36223501" "subst" "0.00052151" "01943" "KMT2B_000007" "g.36223501C>T" "" "" "" "KMT2B(NM_014727.2):c.6051C>T (p.H2017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35732600C>T" "" "likely benign" "" "0000297430" "0" "10" "19" "36236909" "36236909" "subst" "0.158825" "02325" "PSENEN_000003" "g.36236909G>C" "" "" "" "PSENEN(NM_001281532.3):c.61+17G>C, PSENEN(NM_172341.3):c.61+17G>C, PSENEN(NM_172341.4):c.61+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35746008G>C" "" "benign" "" "0000299167" "0" "10" "19" "36236909" "36236909" "subst" "0.158825" "02329" "PSENEN_000003" "g.36236909G>C" "" "" "" "PSENEN(NM_001281532.3):c.61+17G>C, PSENEN(NM_172341.3):c.61+17G>C, PSENEN(NM_172341.4):c.61+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35746008G>C" "" "benign" "" "0000306555" "0" "10" "19" "36236909" "36236909" "subst" "0.158825" "01943" "PSENEN_000003" "g.36236909G>C" "" "" "" "PSENEN(NM_001281532.3):c.61+17G>C, PSENEN(NM_172341.3):c.61+17G>C, PSENEN(NM_172341.4):c.61+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35746008G>C" "" "benign" "" "0000319191" "0" "50" "19" "36235225" "36235225" "subst" "4.06283E-6" "01943" "U2AF1L4_000001" "g.36235225T>C" "" "" "" "U2AF1L4(NM_001040425.3):c.230A>G (p.K77R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35744324T>C" "" "VUS" "" "0000339906" "0" "10" "19" "36223747" "36223747" "subst" "0.111963" "02327" "KMT2B_000010" "g.36223747A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35732846A>G" "" "benign" "" "0000341265" "0" "50" "19" "36223743" "36223743" "subst" "0" "02327" "KMT2B_000009" "g.36223743C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35732842C>A" "" "VUS" "" "0000342059" "0" "50" "19" "36221280" "36221280" "subst" "0" "02327" "KMT2B_000008" "g.36221280G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35730379G>A" "" "VUS" "" "0000350005" "0" "50" "19" "36228158" "36228158" "subst" "0" "02327" "KMT2B_000012" "g.36228158A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35737257A>G" "" "VUS" "" "0000566959" "0" "30" "19" "36210405" "36210405" "subst" "0.000357098" "01943" "ZBTB32_000002" "g.36210405C>T" "" "" "" "KMT2B(NM_014727.2):c.398C>T (p.A133V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35719503C>T" "" "likely benign" "" "0000566960" "0" "30" "19" "36210765" "36210765" "subst" "2.04078E-5" "01943" "ZBTB32_000003" "g.36210765C>A" "" "" "" "KMT2B(NM_014727.2):c.516C>A (p.T172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35719863C>A" "" "likely benign" "" "0000566961" "0" "30" "19" "36211008" "36211008" "subst" "0.00142346" "01943" "ZBTB32_000004" "g.36211008A>G" "" "" "" "KMT2B(NM_014727.2):c.759A>G (p.P253=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35720106A>G" "" "likely benign" "" "0000566962" "0" "30" "19" "36211134" "36211134" "subst" "0.00038674" "01943" "ZBTB32_000005" "g.36211134C>T" "" "" "" "KMT2B(NM_014727.2):c.885C>T (p.R295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35720232C>T" "" "likely benign" "" "0000566963" "0" "30" "19" "36211461" "36211461" "subst" "0.000285007" "01943" "ZBTB32_000006" "g.36211461G>A" "" "" "" "KMT2B(NM_014727.2):c.1212G>A (p.P404=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35720559G>A" "" "likely benign" "" "0000566965" "0" "50" "19" "36211521" "36211523" "del" "0" "01943" "ZBTB32_000008" "g.36211521_36211523del" "" "" "" "KMT2B(NM_014727.2):c.1272_1274delTCC (p.P427del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35720619_35720621del" "" "VUS" "" "0000566966" "0" "10" "19" "36211720" "36211720" "subst" "0.00114515" "01943" "ZBTB32_000009" "g.36211720G>A" "" "" "" "KMT2B(NM_014727.2):c.1471G>A (p.G491S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35720818G>A" "" "benign" "" "0000566967" "0" "30" "19" "36211753" "36211753" "subst" "0.000360105" "01943" "ZBTB32_000010" "g.36211753G>A" "" "" "" "KMT2B(NM_014727.2):c.1504G>A (p.A502T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35720851G>A" "" "likely benign" "" "0000566976" "0" "30" "19" "36212432" "36212432" "subst" "0.000327528" "02325" "KMT2B_000004" "g.36212432G>A" "" "" "" "KMT2B(NM_014727.3):c.2183G>A (p.S728N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35721530G>A" "" "likely benign" "" "0000566978" "0" "30" "19" "36212517" "36212528" "dup" "0" "01943" "ZBTB32_000019" "g.36212517_36212528dup" "" "" "" "KMT2B(NM_014727.2):c.2268_2279dupACAGCCACAGCT (p.Q759_P762dup), KMT2B(NM_014727.3):c.2268_2279dupACAGCCACAGCT (p.Q759_P762dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35721615_35721626dup" "" "likely benign" "" "0000566979" "0" "30" "19" "36213322" "36213322" "subst" "3.70581E-5" "01804" "KMT2B_000014" "g.36213322G>A" "" "" "" "KMT2B(NM_014727.1):c.2519G>A (p.(Gly840Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35722420G>A" "" "likely benign" "" "0000566980" "0" "30" "19" "36213368" "36213368" "subst" "0" "01943" "KMT2B_000015" "g.36213368G>A" "" "" "" "KMT2B(NM_014727.2):c.2565G>A (p.R855=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35722466G>A" "" "likely benign" "" "0000566982" "0" "10" "19" "36214630" "36214630" "subst" "0" "01943" "KMT2B_000017" "g.36214630G>A" "" "" "" "KMT2B(NM_014727.2):c.3059-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35723728G>A" "" "benign" "" "0000566983" "0" "30" "19" "36214897" "36214897" "subst" "2.25122E-5" "02325" "KMT2B_000018" "g.36214897C>T" "" "" "" "KMT2B(NM_014727.3):c.3323C>T (p.P1108L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35723996C>T" "" "likely benign" "" "0000566984" "0" "30" "19" "36215955" "36215955" "subst" "8.12367E-6" "01943" "KMT2B_000019" "g.36215955C>T" "" "" "" "KMT2B(NM_014727.2):c.3495C>T (p.P1165=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35725054C>T" "" "likely benign" "" "0000566985" "0" "30" "19" "36218439" "36218439" "subst" "1.71393E-5" "01804" "KMT2B_000020" "g.36218439C>T" "" "" "" "KMT2B(NM_014727.1):c.4218C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35727538C>T" "" "likely benign" "" "0000566988" "0" "30" "19" "36221611" "36221611" "subst" "3.65973E-5" "01943" "KMT2B_000023" "g.36221611C>T" "" "" "" "KMT2B(NM_014727.2):c.5280C>T (p.C1760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35730710C>T" "" "likely benign" "" "0000566989" "0" "30" "19" "36222833" "36222833" "subst" "8.13478E-6" "02327" "KMT2B_000024" "g.36222833C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35731932C>T" "" "likely benign" "" "0000566991" "0" "50" "19" "36223114" "36223114" "subst" "0" "02327" "KMT2B_000026" "g.36223114A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35732213A>G" "" "VUS" "" "0000566993" "0" "30" "19" "36223242" "36223242" "subst" "0.000187098" "02325" "KMT2B_000028" "g.36223242C>T" "" "" "" "KMT2B(NM_014727.2):c.5792C>T (p.P1931L), KMT2B(NM_014727.3):c.5792C>T (p.P1931L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35732341C>T" "" "likely benign" "" "0000566994" "0" "50" "19" "36223362" "36223362" "subst" "1.62702E-5" "01943" "KMT2B_000029" "g.36223362A>G" "" "" "" "KMT2B(NM_014727.2):c.5912A>G (p.E1971G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35732461A>G" "" "VUS" "" "0000566995" "0" "50" "19" "36223459" "36223459" "subst" "0" "02325" "KMT2B_000030" "g.36223459C>G" "" "" "" "KMT2B(NM_014727.3):c.6009C>G (p.F2003L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35732558C>G" "" "VUS" "" "0000566996" "0" "30" "19" "36223506" "36223506" "subst" "1.23814E-5" "01943" "KMT2B_000031" "g.36223506G>C" "" "" "" "KMT2B(NM_014727.2):c.6056G>C (p.G2019A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35732605G>C" "" "likely benign" "" "0000566997" "0" "50" "19" "36223734" "36223734" "subst" "2.199E-5" "01943" "KMT2B_000032" "g.36223734T>C" "" "" "" "KMT2B(NM_014727.2):c.6284T>C (p.V2095A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35732833T>C" "" "VUS" "" "0000566998" "0" "30" "19" "36223771" "36223771" "subst" "0.00326603" "01943" "KMT2B_000033" "g.36223771G>A" "" "" "" "KMT2B(NM_014727.2):c.6321G>A (p.E2107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35732870G>A" "" "likely benign" "" "0000566999" "0" "10" "19" "36223780" "36223780" "subst" "0.00149022" "01943" "KMT2B_000034" "g.36223780A>G" "" "" "" "KMT2B(NM_014727.2):c.6330A>G (p.P2110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35732879A>G" "" "benign" "" "0000567000" "0" "30" "19" "36223964" "36223964" "subst" "1.1042E-5" "01943" "KMT2B_000035" "g.36223964G>A" "" "" "" "KMT2B(NM_014727.2):c.6514G>A (p.V2172I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35733063G>A" "" "likely benign" "" "0000567001" "0" "30" "19" "36224674" "36224674" "subst" "0.000174985" "01943" "KMT2B_000036" "g.36224674G>A" "" "" "" "KMT2B(NM_014727.2):c.7060G>A (p.E2354K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35733773G>A" "" "likely benign" "" "0000567002" "0" "50" "19" "36224677" "36224677" "subst" "0.000366417" "01943" "KMT2B_000037" "g.36224677C>T" "" "" "" "KMT2B(NM_014727.2):c.7063C>T (p.R2355W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35733776C>T" "" "VUS" "" "0000567003" "0" "50" "19" "36224764" "36224764" "subst" "0" "02329" "IGFLR1_000001" "g.36224764C>T" "" "" "" "KMT2B(NM_014727.3):c.7150C>T (p.H2384Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35733863C>T" "" "VUS" "" "0000567004" "0" "30" "19" "36227616" "36227616" "subst" "0.000264112" "01943" "IGFLR1_000002" "g.36227616G>A" "" "" "" "KMT2B(NM_014727.2):c.7185G>A (p.E2395=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35736715G>A" "" "likely benign" "" "0000567005" "0" "50" "19" "36227707" "36227707" "subst" "4.06108E-6" "01943" "IGFLR1_000003" "g.36227707G>A" "" "" "" "KMT2B(NM_014727.2):c.7276G>A (p.V2426I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35736806G>A" "" "VUS" "" "0000567006" "0" "70" "19" "36228146" "36228146" "subst" "0" "02329" "IGFLR1_000004" "g.36228146G>A" "" "" "" "KMT2B(NM_014727.3):c.7532G>A (p.R2511Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35737245G>A" "" "likely pathogenic" "" "0000617542" "0" "30" "19" "36215600" "36215600" "subst" "2.27892E-5" "01943" "KMT2B_000042" "g.36215600T>G" "" "" "" "KMT2B(NM_014727.2):c.3397T>G (p.L1133V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35724699T>G" "" "likely benign" "" "0000617544" "0" "30" "19" "36216674" "36216674" "subst" "0" "01943" "KMT2B_000044" "g.36216674G>C" "" "" "" "KMT2B(NM_014727.2):c.3840G>C (p.L1280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35725773G>C" "" "likely benign" "" "0000617545" "0" "30" "19" "36218051" "36218051" "subst" "7.18555E-5" "01943" "KMT2B_000045" "g.36218051C>T" "" "" "" "KMT2B(NM_014727.2):c.4004-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35727150C>T" "" "likely benign" "" "0000617546" "0" "30" "19" "36218878" "36218878" "subst" "0.000801009" "02326" "KMT2B_000046" "g.36218878C>T" "" "" "" "KMT2B(NM_014727.2):c.4489C>T (p.L1497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35727977C>T" "" "likely benign" "" "0000617548" "0" "30" "19" "36220147" "36220147" "subst" "0" "02327" "KMT2B_000048" "g.36220147G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35729246G>A" "" "likely benign" "" "0000617549" "0" "30" "19" "36221030" "36221030" "subst" "0" "01804" "KMT2B_000049" "g.36221030G>A" "" "" "" "KMT2B(NM_014727.1):c.5076+4G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35730129G>A" "" "likely benign" "" "0000617550" "0" "30" "19" "36223477" "36223477" "subst" "9.4162E-5" "01943" "KMT2B_000050" "g.36223477C>T" "" "" "" "KMT2B(NM_014727.2):c.6027C>T (p.A2009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35732576C>T" "" "likely benign" "" "0000617551" "0" "30" "19" "36224135" "36224135" "subst" "0" "01804" "KMT2B_000051" "g.36224135C>T" "" "" "" "KMT2B(NM_014727.1):c.6685C>T (p.(Pro2229Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35733234C>T" "" "likely benign" "" "0000617552" "0" "30" "19" "36224210" "36224210" "subst" "5.07357E-5" "01943" "KMT2B_000052" "g.36224210C>A" "" "" "" "KMT2B(NM_014727.2):c.6760C>A (p.P2254T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35733309C>A" "" "likely benign" "" "0000617553" "0" "50" "19" "36227833" "36227833" "subst" "0" "02325" "IGFLR1_000006" "g.36227833G>A" "" "" "" "KMT2B(NM_014727.3):c.7318G>A (p.E2440K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35736932G>A" "" "VUS" "" "0000623977" "0" "30" "19" "36209141" "36209141" "subst" "0.000375235" "01943" "KMT2B_000001" "g.36209141G>A" "" "" "" "KMT2B(NM_014727.2):c.221G>A (p.R74H), KMT2B(NM_014727.3):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35718239G>A" "" "likely benign" "" "0000623978" "0" "30" "19" "36213292" "36213292" "subst" "0.000387482" "01943" "KMT2B_000038" "g.36213292C>A" "" "" "" "KMT2B(NM_014727.2):c.2489C>A (p.A830D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35722390C>A" "" "likely benign" "" "0000623979" "0" "50" "19" "36213614" "36213614" "subst" "2.21785E-5" "01943" "KMT2B_000039" "g.36213614A>C" "" "" "" "KMT2B(NM_014727.2):c.2716A>C (p.T906P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35722712A>C" "" "VUS" "" "0000623980" "0" "50" "19" "36213930" "36213930" "subst" "2.88546E-5" "01943" "KMT2B_000040" "g.36213930C>T" "" "" "" "KMT2B(NM_014727.2):c.2756C>T (p.P919L), KMT2B(NM_014727.3):c.2756C>T (p.(Pro919Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35723028C>T" "" "VUS" "" "0000623981" "0" "50" "19" "36214780" "36214780" "subst" "2.55689E-5" "01943" "KMT2B_000041" "g.36214780C>G" "" "" "" "KMT2B(NM_014727.2):c.3206C>G (p.S1069C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35723879C>G" "" "VUS" "" "0000645301" "0" "70" "19" "36220881" "36220881" "subst" "0" "00006" "KMT2B_000053" "g.36220881G>T" "" "{PMID:Lee 2019:31607746}" "" "" "" "De novo" "" "" "0" "" "" "g.35729980G>T" "{CV:000746656.2}" "likely pathogenic (dominant)" "" "0000658544" "0" "90" "19" "36211138" "36211138" "subst" "0" "01943" "ZBTB32_000021" "g.36211138C>T" "" "" "" "KMT2B(NM_014727.2):c.889C>T (p.R297*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35720236C>T" "" "pathogenic" "" "0000658545" "0" "30" "19" "36211418" "36211418" "subst" "0.00476651" "01804" "ZBTB32_000022" "g.36211418T>C" "" "" "" "KMT2B(NM_014727.1):c.1169T>C (p.(Met390Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35720516T>C" "" "likely benign" "" "0000658547" "0" "90" "19" "36219046" "36219046" "subst" "0" "02327" "KMT2B_000054" "g.36219046C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35728145C>A" "" "pathogenic" "" "0000660096" "0" "70" "19" "36224254" "36224255" "del" "0" "01164" "KMT2B_000055" "g.36224254_36224255del" "" "" "" "" "ACMG grading: PVS1,PM2" "Germline" "" "" "0" "" "" "g.35733353_35733354del" "" "likely pathogenic" "ACMG" "0000663712" "0" "90" "19" "36215603" "36215603" "subst" "0" "01807" "KMT2B_000056" "g.36215603C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.35724702C>T" "" "pathogenic" "" "0000673997" "0" "70" "19" "36229048" "36229048" "subst" "0" "03670" "KMT2B_000057" "g.36229048C>T" "" "{PMID:Nakamura 2020:32877735}" "" "" "" "De novo" "-" "" "0" "" "" "g.35738147C>T" "" "likely pathogenic (dominant)" "ACMG" "0000681374" "0" "50" "19" "36210835" "36210835" "subst" "8.54944E-5" "01943" "ZBTB32_000024" "g.36210835C>T" "" "" "" "KMT2B(NM_014727.2):c.586C>T (p.L196F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681375" "0" "50" "19" "36220064" "36220064" "subst" "4.07983E-6" "02327" "KMT2B_000058" "g.36220064C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681376" "0" "90" "19" "36221279" "36221279" "subst" "0" "02325" "KMT2B_000059" "g.36221279C>T" "" "" "" "KMT2B(NM_014727.3):c.5113C>T (p.R1705*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681377" "0" "30" "19" "36223209" "36223209" "subst" "0" "01943" "KMT2B_000060" "g.36223209C>T" "" "" "" "KMT2B(NM_014727.2):c.5759C>T (p.A1920V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681378" "0" "30" "19" "36223242" "36223242" "subst" "0.000187098" "01943" "KMT2B_000028" "g.36223242C>T" "" "" "" "KMT2B(NM_014727.2):c.5792C>T (p.P1931L), KMT2B(NM_014727.3):c.5792C>T (p.P1931L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681379" "0" "30" "19" "36223378" "36223378" "subst" "0" "01943" "KMT2B_000061" "g.36223378C>T" "" "" "" "KMT2B(NM_014727.2):c.5928C>T (p.D1976=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681380" "0" "30" "19" "36223624" "36223624" "subst" "8.47465E-6" "01943" "KMT2B_000062" "g.36223624T>C" "" "" "" "KMT2B(NM_014727.2):c.6174T>C (p.I2058=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681381" "0" "30" "19" "36224317" "36224317" "subst" "0.000530349" "01943" "KMT2B_000063" "g.36224317G>A" "" "" "" "KMT2B(NM_014727.2):c.6867G>A (p.P2289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681382" "0" "30" "19" "36224345" "36224345" "subst" "0" "01804" "KMT2B_000064" "g.36224345C>T" "" "" "" "KMT2B(NM_014727.1):c.6895C>T (p.(Arg2299Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681383" "0" "30" "19" "36227735" "36227735" "subst" "0.000523969" "01943" "IGFLR1_000007" "g.36227735G>T" "" "" "" "KMT2B(NM_014727.2):c.7297+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681384" "0" "90" "19" "36227872" "36227873" "ins" "0" "02325" "IGFLR1_000008" "g.36227872_36227873insGTCT" "" "" "" "KMT2B(NM_014727.3):c.7357_7358insGTCT (p.H2453Rfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000681385" "0" "30" "19" "36228975" "36228975" "subst" "2.03102E-5" "01943" "IGFLR1_000009" "g.36228975C>T" "" "" "" "KMT2B(NM_014727.2):c.7755C>T (p.H2585=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681386" "0" "30" "19" "36237625" "36237625" "subst" "0" "02326" "IGFLR1_000010" "g.36237625T>G" "" "" "" "PSENEN(NM_172341.4):c.183T>G (p.A61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692764" "0" "30" "19" "36210898" "36210898" "subst" "2.88834E-5" "02325" "ZBTB32_000025" "g.36210898C>T" "" "" "" "KMT2B(NM_014727.3):c.649C>T (p.R217W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692765" "0" "30" "19" "36211339" "36211339" "subst" "0" "01943" "ZBTB32_000026" "g.36211339G>A" "" "" "" "KMT2B(NM_014727.1):c.1090G>A (p.(Glu364Lys)), KMT2B(NM_014727.2):c.1090G>A (p.E364K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692766" "0" "30" "19" "36212005" "36212005" "subst" "8.30392E-6" "01943" "ZBTB32_000027" "g.36212005G>A" "" "" "" "KMT2B(NM_014727.2):c.1756G>A (p.A586T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692767" "0" "30" "19" "36214850" "36214850" "subst" "0.00161753" "01943" "KMT2B_000065" "g.36214850G>A" "" "" "" "KMT2B(NM_014727.2):c.3276G>A (p.S1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692768" "0" "30" "19" "36216484" "36216484" "subst" "3.28653E-5" "01943" "KMT2B_000066" "g.36216484C>T" "" "" "" "KMT2B(NM_014727.2):c.3747C>T (p.C1249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692769" "0" "30" "19" "36218440" "36218440" "subst" "0.000740316" "02325" "KMT2B_000067" "g.36218440G>A" "" "" "" "KMT2B(NM_014727.3):c.4219G>A (p.G1407R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692770" "0" "30" "19" "36220969" "36220969" "subst" "3.66656E-5" "01943" "KMT2B_000068" "g.36220969C>T" "" "" "" "KMT2B(NM_014727.2):c.5019C>T (p.I1673=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692771" "0" "30" "19" "36223699" "36223699" "subst" "0.000843352" "01943" "KMT2B_000069" "g.36223699G>T" "" "" "" "KMT2B(NM_014727.2):c.6249G>T (p.T2083=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000694193" "0" "70" "19" "36212057" "36212057" "dup" "0" "00006" "KMT2B_000070" "g.36212057dup" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.35721155dup" "" "likely pathogenic (dominant)" "" "0000694857" "11" "50" "19" "36210784" "36210784" "subst" "1.22211E-5" "00006" "KMT2B_000072" "g.36210784C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "Germline" "" "" "0" "" "" "g.35719882C>T" "" "VUS" "ACMG" "0000694858" "11" "50" "19" "36210889" "36210889" "subst" "8.21612E-5" "00006" "KMT2B_000073" "g.36210889T>C" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in CHD8" "Germline" "" "" "0" "" "" "g.35719987T>C" "" "VUS" "ACMG" "0000694859" "11" "50" "19" "36211393" "36211393" "subst" "6.55609E-6" "00006" "KMT2B_000074" "g.36211393G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in CHD4" "Germline" "" "" "0" "" "" "g.35720491G>A" "" "VUS" "ACMG" "0000694860" "11" "50" "19" "36212039" "36212039" "subst" "1.30423E-5" "00006" "KMT2B_000075" "g.36212039C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in NEM2" "Germline" "" "" "0" "" "" "g.35721137C>T" "" "VUS" "ACMG" "0000694861" "0" "90" "19" "36212059" "36212059" "dup" "0" "00006" "KMT2B_000076" "g.36212059dup" "" "{PMID:Faundes 2018:29276005}" "" "1808dupC" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.35721157dup" "" "pathogenic" "ACMG" "0000694862" "21" "50" "19" "36214891" "36214891" "subst" "0.000397321" "00006" "KMT2B_000077" "g.36214891G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "Germline" "" "" "0" "" "" "g.35723990G>A" "" "VUS" "ACMG" "0000694863" "0" "70" "19" "36216402" "36216402" "subst" "0" "00006" "KMT2B_000078" "g.36216402G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.35725501G>A" "" "likely pathogenic" "ACMG" "0000694864" "21" "50" "19" "36216691" "36216691" "subst" "2.93804E-5" "00006" "KMT2B_000079" "g.36216691C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in ARID1B" "Germline" "" "" "0" "" "" "g.35725790C>T" "" "VUS" "ACMG" "0000694865" "11" "10" "19" "36218440" "36218440" "subst" "0.000740316" "00006" "KMT2B_000067" "g.36218440G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in ARID1B" "Germline" "" "" "0" "" "" "g.35727539G>A" "" "benign" "ACMG" "0000694866" "21" "50" "19" "36218834" "36218834" "subst" "0" "00006" "KMT2B_000080" "g.36218834G>C" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in DYNC1H1" "Germline" "" "" "0" "" "" "g.35727933G>C" "" "VUS" "ACMG" "0000694867" "21" "50" "19" "36220064" "36220064" "subst" "4.07983E-6" "00006" "KMT2B_000058" "g.36220064C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "possible causative variant identified in SYNE1" "Germline" "" "" "0" "" "" "g.35729163C>T" "" "VUS" "ACMG" "0000694868" "0" "70" "19" "36221673" "36221673" "subst" "0" "00006" "KMT2B_000081" "g.36221673T>C" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.35730772T>C" "" "likely pathogenic" "ACMG" "0000694869" "0" "50" "19" "36222953" "36222953" "subst" "0.000153632" "00006" "KMT2B_000082" "g.36222953C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "De novo" "" "" "0" "" "" "g.35732052C>T" "" "VUS" "ACMG" "0000694870" "21" "30" "19" "36223859" "36223859" "subst" "1.33733E-5" "00006" "KMT2B_000083" "g.36223859C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in ARID1B" "Germline" "" "" "0" "" "" "g.35732958C>T" "" "likely benign" "ACMG" "0000694871" "11" "30" "19" "36224078" "36224078" "subst" "0.000159949" "00006" "KMT2B_000084" "g.36224078C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in ARID1B" "Germline" "" "" "0" "" "" "g.35733177C>T" "" "likely benign" "ACMG" "0000694872" "11" "50" "19" "36224232" "36224232" "subst" "2.13183E-5" "00006" "KMT2B_000085" "g.36224232C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "causative variant identified in Del8q" "Germline" "" "" "0" "" "" "g.35733331C>T" "" "VUS" "ACMG" "0000694873" "21" "50" "19" "36224327" "36224327" "subst" "0.000200127" "00006" "KMT2B_000086" "g.36224327C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "no possible causative variants identified in other genes" "Germline" "" "" "0" "" "" "g.35733426C>T" "" "VUS" "ACMG" "0000694936" "0" "90" "19" "36191100" "36376860" "del" "0" "00006" "KMT2B_000071" "g.(?_36191100)_(36376860_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694937" "0" "90" "19" "35608666" "36233508" "del" "0" "00006" "KMT2B_000071" "g.(?_35608666)_(36233508_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694938" "0" "90" "19" "35608666" "36233508" "del" "0" "00006" "KMT2B_000071" "g.(?_35608666)_(36233508_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694939" "0" "90" "19" "35017972" "36307788" "del" "0" "00006" "KMT2B_000071" "g.(?_35017972)_(36307788_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694940" "0" "90" "19" "34983674" "36361263" "del" "0" "00006" "KMT2B_000071" "g.(?_34983674)_(36361263_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene; individual carries other CNVs 8:131223855-134546311, 18:63038586-64746016" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694941" "0" "90" "19" "35096860" "36494247" "del" "0" "00006" "KMT2B_000071" "g.(?_35096860)_(36494247_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694942" "0" "90" "19" "34916872" "36661836" "del" "0" "00006" "KMT2B_000071" "g.(?_34916872)_(36661836_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694943" "0" "90" "19" "35967904" "37928373" "del" "0" "00006" "KMT2B_000071" "g.(?_35967904)_(37928373_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694944" "0" "90" "19" "35414997" "37579142" "del" "0" "00006" "KMT2B_000071" "g.(?_35414997)_(37579142_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694945" "0" "90" "19" "3757914" "35414997" "del" "0" "00006" "KMT2B_000071" "g.(?_35414997)_(3757914_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694946" "0" "90" "19" "34697740" "37084508" "del" "0" "00006" "KMT2B_000071" "g.(?_34697740)_(37084508_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694947" "0" "90" "19" "34317255" "36717258" "del" "0" "00006" "KMT2B_000071" "g.(?_34317255)_(36717258_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694948" "0" "90" "19" "35043615" "37903209" "del" "0" "00006" "KMT2B_000071" "g.(?_35043615)_(37903209_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694949" "0" "90" "19" "35197252" "38140100" "del" "0" "00006" "KMT2B_000071" "g.(?_35197252)_(38140100_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694950" "0" "90" "19" "35197252" "38140100" "del" "0" "00006" "KMT2B_000071" "g.(?_35197252)_(38140100_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene; individual carries other CNVs X:6452799-6755223, X:152012290-152018952" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694951" "0" "90" "19" "31725360" "36229548" "del" "0" "00006" "KMT2B_000071" "g.(?_31725360)_(36229548_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694952" "0" "90" "19" "31563657" "37241664" "del" "0" "00006" "KMT2B_000071" "g.(?_31563657)_(37241664_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "De novo" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000694953" "0" "90" "19" "30682288" "36367331" "del" "0" "00006" "KMT2B_000071" "g.(?_30682288)_(36367331_?)del" "" "{PMID:Faundes 2018:29276005}" "" "" "also affects SCN1B gene" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000727268" "0" "50" "19" "36209141" "36209141" "subst" "0.000375235" "02329" "KMT2B_000001" "g.36209141G>A" "" "" "" "KMT2B(NM_014727.2):c.221G>A (p.R74H), KMT2B(NM_014727.3):c.221G>A (p.R74H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727269" "0" "30" "19" "36210875" "36210875" "subst" "3.68493E-5" "01943" "ZBTB32_000028" "g.36210875G>A" "" "" "" "KMT2B(NM_014727.2):c.626G>A (p.R209Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727270" "0" "50" "19" "36210994" "36210994" "subst" "0" "02329" "ZBTB32_000029" "g.36210994A>G" "" "" "" "KMT2B(NM_014727.3):c.745A>G (p.K249E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727271" "0" "50" "19" "36211132" "36211132" "subst" "2.10636E-5" "02325" "ZBTB32_000030" "g.36211132C>T" "" "" "" "KMT2B(NM_014727.3):c.883C>T (p.R295C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727272" "0" "30" "19" "36211277" "36211277" "subst" "0.000191687" "01943" "ZBTB32_000031" "g.36211277G>A" "" "" "" "KMT2B(NM_014727.2):c.1028G>A (p.R343K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727273" "0" "30" "19" "36212517" "36212528" "dup" "0" "02325" "ZBTB32_000019" "g.36212517_36212528dup" "" "" "" "KMT2B(NM_014727.2):c.2268_2279dupACAGCCACAGCT (p.Q759_P762dup), KMT2B(NM_014727.3):c.2268_2279dupACAGCCACAGCT (p.Q759_P762dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727274" "0" "50" "19" "36214870" "36214870" "subst" "0" "01943" "KMT2B_000087" "g.36214870G>A" "" "" "" "KMT2B(NM_014727.2):c.3296G>A (p.G1099D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727275" "0" "30" "19" "36215624" "36215624" "subst" "0" "01943" "KMT2B_000088" "g.36215624C>T" "" "" "" "KMT2B(NM_014727.2):c.3421C>T (p.L1141=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727276" "0" "30" "19" "36216451" "36216451" "subst" "0.000139363" "01943" "KMT2B_000089" "g.36216451C>G" "" "" "" "KMT2B(NM_014727.2):c.3714C>G (p.P1238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727277" "0" "30" "19" "36218775" "36218775" "subst" "8.27027E-6" "01943" "KMT2B_000090" "g.36218775C>T" "" "" "" "KMT2B(NM_014727.2):c.4393-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727278" "0" "50" "19" "36219062" "36219062" "subst" "0" "02329" "KMT2B_000021" "g.36219062C>T" "" "" "" "KMT2B(NM_014727.2):c.4561C>T (p.R1521W), KMT2B(NM_014727.3):c.4561C>T (p.R1521W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727279" "0" "30" "19" "36220125" "36220125" "subst" "0" "01943" "KMT2B_000091" "g.36220125G>T" "" "" "" "KMT2B(NM_014727.2):c.4845G>T (p.S1615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727280" "0" "30" "19" "36220137" "36220137" "subst" "0.000110999" "01943" "KMT2B_000092" "g.36220137C>T" "" "" "" "KMT2B(NM_014727.2):c.4857C>T (p.F1619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727281" "0" "30" "19" "36221015" "36221015" "subst" "3.26302E-5" "01943" "KMT2B_000022" "g.36221015C>G" "" "" "" "KMT2B(NM_014727.2):c.5065C>G (p.L1689V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808821" "0" "50" "19" "36211458" "36211460" "del" "0" "02325" "ZBTB32_000032" "g.36211458_36211460del" "" "" "" "KMT2B(NM_014727.3):c.1209_1211delACC (p.P405del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808822" "0" "30" "19" "36211647" "36211647" "subst" "0.000451275" "01943" "ZBTB32_000033" "g.36211647C>T" "" "" "" "KMT2B(NM_014727.2):c.1398C>T (p.S466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808823" "0" "50" "19" "36215568" "36215568" "subst" "0" "02325" "KMT2B_000093" "g.36215568G>A" "" "" "" "KMT2B(NM_014727.3):c.3365G>A (p.S1122N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808824" "0" "30" "19" "36216448" "36216448" "subst" "0.000196797" "01943" "KMT2B_000043" "g.36216448G>A" "" "" "" "KMT2B(NM_014727.2):c.3711G>A (p.L1237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808825" "0" "30" "19" "36218843" "36218843" "subst" "0" "01943" "KMT2B_000094" "g.36218843C>T" "" "" "" "KMT2B(NM_014727.2):c.4454C>T (p.P1485L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808826" "0" "30" "19" "36219702" "36219702" "subst" "0.000186823" "01943" "KMT2B_000047" "g.36219702C>T" "" "" "" "KMT2B(NM_014727.2):c.4599C>T (p.P1533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808827" "0" "30" "19" "36224573" "36224573" "subst" "0" "01943" "KMT2B_000095" "g.36224573G>A" "" "" "" "KMT2B(NM_014727.2):c.7035G>A (p.G2345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808829" "0" "30" "19" "36236610" "36236610" "subst" "0" "01943" "IGFLR1_000011" "g.36236610G>A" "" "" "" "PSENEN(NM_172341.3):c.-97+9G>A, PSENEN(NM_172341.4):c.-97+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000823619" "0" "50" "19" "36220166" "36220171" "del" "0" "02494" "KMT2B_000096" "g.36220166_36220171del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.35729265_35729270del" "" "likely pathogenic (!)" "" "0000832183" "0" "90" "19" "36221023" "36221023" "subst" "0" "04233" "KMT2B_000097" "g.36221023C>T" "" "" "" "" "effect on splicing predicted from in vitro exon-trapping assay, caused a novel splice donor site and 5 bp deletion of KMT2B exon 23 in mature mRNA, causing a coding frameshift and premature stop codon (p.Lys1692AsnfsTer7)" "De novo" "yes" "" "0" "" "" "g.35730122C>T" "" "pathogenic (dominant)" "ACMG" "0000833383" "1" "50" "19" "36211409" "36211409" "subst" "5.93339E-5" "00006" "KMT2B_000098" "g.36211409C>T" "" "{PMID:Martin 2017:29220673}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833384" "2" "30" "19" "36216118" "36216118" "dup" "0" "00006" "KMT2B_000099" "g.36216118dup" "" "{PMID:Martin 2017:29220673}" "" "3529-8_3529-7insC" "" "Germline" "" "" "0" "" "" "g.35725217dup" "" "likely benign" "" "0000855528" "0" "30" "19" "36212514" "36212514" "subst" "0.000138005" "01943" "ZBTB32_000034" "g.36212514A>G" "" "" "" "KMT2B(NM_014727.2):c.2265A>G (p.P755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855529" "0" "30" "19" "36214891" "36214891" "subst" "0.000397321" "02325" "KMT2B_000077" "g.36214891G>A" "" "" "" "KMT2B(NM_014727.2):c.3317G>A (p.R1106Q), KMT2B(NM_014727.3):c.3317G>A (p.R1106Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855530" "0" "30" "19" "36217260" "36217260" "subst" "5.28735E-5" "01943" "KMT2B_000101" "g.36217260G>T" "" "" "" "KMT2B(NM_014727.2):c.4003+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855531" "0" "50" "19" "36219062" "36219062" "subst" "0" "01943" "KMT2B_000021" "g.36219062C>T" "" "" "" "KMT2B(NM_014727.2):c.4561C>T (p.R1521W), KMT2B(NM_014727.3):c.4561C>T (p.R1521W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855532" "0" "30" "19" "36228119" "36228119" "subst" "0.000203788" "01943" "IGFLR1_000012" "g.36228119C>T" "" "" "" "KMT2B(NM_014727.2):c.7505C>T (p.P2502L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866027" "0" "30" "19" "36212634" "36212634" "subst" "0" "01943" "ZBTB32_000035" "g.36212634C>T" "" "" "" "KMT2B(NM_014727.2):c.2385C>T (p.L795=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866028" "0" "50" "19" "36214639" "36214639" "subst" "0" "02325" "KMT2B_000100" "g.36214639C>T" "" "" "" "KMT2B(NM_014727.3):c.3065C>T (p.T1022M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866029" "0" "50" "19" "36214891" "36214891" "subst" "0.000397321" "01943" "KMT2B_000077" "g.36214891G>A" "" "" "" "KMT2B(NM_014727.2):c.3317G>A (p.R1106Q), KMT2B(NM_014727.3):c.3317G>A (p.R1106Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866030" "0" "50" "19" "36221765" "36221765" "subst" "0" "01943" "KMT2B_000102" "g.36221765T>C" "" "" "" "KMT2B(NM_014727.2):c.5434T>C (p.S1812P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866031" "0" "50" "19" "36221766" "36221766" "subst" "0" "01943" "KMT2B_000103" "g.36221766C>T" "" "" "" "KMT2B(NM_014727.2):c.5435C>T (p.S1812L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866032" "0" "30" "19" "36223478" "36223478" "subst" "0.000614407" "01943" "KMT2B_000104" "g.36223478G>T" "" "" "" "KMT2B(NM_014727.2):c.6028G>T (p.A2010S), KMT2B(NM_014727.3):c.6028G>T (p.A2010S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866033" "0" "50" "19" "36229326" "36229326" "subst" "0" "01943" "IGFLR1_000013" "g.36229326T>G" "" "" "" "KMT2B(NM_014727.2):c.8016T>G (p.I2672M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894930" "0" "50" "19" "36211237" "36211242" "del" "0" "02325" "ZBTB32_000036" "g.36211237_36211242del" "" "" "" "KMT2B(NM_014727.3):c.988_993delGGTCAA (p.G330_Q331del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894931" "0" "50" "19" "36212299" "36212299" "subst" "0" "02325" "ZBTB32_000037" "g.36212299G>A" "" "" "" "KMT2B(NM_014727.3):c.2050G>A (p.A684T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894932" "0" "90" "19" "36221471" "36221474" "del" "0" "02329" "KMT2B_000105" "g.36221471_36221474del" "" "" "" "KMT2B(NM_014727.3):c.5230_5233delTCTG (p.S1744Ifs*150)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894933" "0" "30" "19" "36223478" "36223478" "subst" "0.000614407" "02325" "KMT2B_000104" "g.36223478G>T" "" "" "" "KMT2B(NM_014727.2):c.6028G>T (p.A2010S), KMT2B(NM_014727.3):c.6028G>T (p.A2010S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894934" "0" "50" "19" "36223959" "36223959" "subst" "0" "02325" "KMT2B_000106" "g.36223959C>T" "" "" "" "KMT2B(NM_014727.3):c.6509C>T (p.P2170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894935" "0" "50" "19" "36227852" "36227852" "subst" "4.06445E-6" "02329" "IGFLR1_000014" "g.36227852G>A" "" "" "" "KMT2B(NM_014727.3):c.7337G>A (p.R2446Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915199" "0" "70" "19" "36210900" "36210903" "del" "0" "02327" "ZBTB32_000038" "g.36210900_36210903del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000915200" "0" "50" "19" "36211822" "36211822" "subst" "0" "02325" "ZBTB32_000039" "g.36211822C>T" "" "" "" "KMT2B(NM_014727.3):c.1573C>T (p.R525W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915201" "0" "30" "19" "36223178" "36223178" "subst" "9.63868E-5" "02325" "KMT2B_000107" "g.36223178C>G" "" "" "" "KMT2B(NM_014727.3):c.5728C>G (p.(Pro1910Ala), p.P1910A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915202" "0" "30" "19" "36236610" "36236610" "subst" "0" "02326" "IGFLR1_000011" "g.36236610G>A" "" "" "" "PSENEN(NM_172341.3):c.-97+9G>A, PSENEN(NM_172341.4):c.-97+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926875" "0" "50" "19" "36221273" "36221273" "subst" "0" "02325" "KMT2B_000108" "g.36221273C>T" "" "" "" "KMT2B(NM_014727.3):c.5107C>T (p.L1703F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926876" "0" "50" "19" "36223191" "36223191" "subst" "0" "02329" "KMT2B_000109" "g.36223191G>T" "" "" "" "KMT2B(NM_014727.3):c.5741G>T (p.R1914L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931041" "0" "50" "19" "36213294" "36213294" "subst" "1.23578E-5" "02325" "KMT2B_000110" "g.36213294G>A" "" "" "" "KMT2B(NM_014727.3):c.2491G>A (p.G831R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931042" "0" "30" "19" "36216665" "36216665" "subst" "6.3786E-5" "02326" "KMT2B_000111" "g.36216665G>A" "" "" "" "KMT2B(NM_014727.2):c.3831G>A (p.P1277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931043" "0" "50" "19" "36218650" "36218650" "subst" "0" "02325" "KMT2B_000112" "g.36218650G>A" "" "" "" "KMT2B(NM_014727.3):c.4354G>A (p.V1452M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931044" "0" "50" "19" "36218782" "36218782" "subst" "0" "02327" "KMT2B_000113" "g.36218782C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931045" "0" "30" "19" "36224078" "36224078" "subst" "0.000159949" "02325" "KMT2B_000084" "g.36224078C>T" "" "" "" "KMT2B(NM_014727.3):c.6628C>T (p.P2210S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931046" "0" "50" "19" "36224505" "36224505" "subst" "1.56229E-5" "02325" "KMT2B_000114" "g.36224505C>T" "" "" "" "KMT2B(NM_014727.3):c.6967C>T (p.R2323C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951275" "0" "30" "19" "36211375" "36211377" "del" "0" "02326" "ZBTB32_000040" "g.36211375_36211377del" "" "" "" "KMT2B(NM_014727.2):c.1126_1128delAAG (p.K376del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951276" "0" "50" "19" "36224544" "36224544" "subst" "0" "02325" "KMT2B_000115" "g.36224544G>T" "" "" "" "KMT2B(NM_014727.3):c.7006G>T (p.D2336Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969699" "0" "30" "19" "36223347" "36223347" "subst" "4.47693E-5" "02325" "KMT2B_000116" "g.36223347C>T" "" "" "" "KMT2B(NM_014727.3):c.5897C>T (p.S1966F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969700" "0" "70" "19" "36224183" "36224207" "dup" "0" "02325" "KMT2B_000117" "g.36224183_36224207dup" "" "" "" "KMT2B(NM_014727.3):c.6733_6757dupGTGGTCGGAGTGGTCCGCCCTGCCC (p.P2253Rfs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000983383" "0" "30" "19" "36210874" "36210874" "subst" "1.63705E-5" "01804" "ZBTB32_000043" "g.36210874C>T" "" "" "" "KMT2B(NM_014727.3):c.625C>T (p.(Arg209Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983384" "0" "50" "19" "36211220" "36211220" "subst" "6.15647E-5" "01804" "ZBTB32_000044" "g.36211220A>G" "" "" "" "KMT2B(NM_014727.3):c.971A>G (p.(Glu324Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983385" "0" "30" "19" "36212158" "36212158" "subst" "0" "01804" "ZBTB32_000045" "g.36212158C>T" "" "" "" "KMT2B(NM_014727.3):c.1909C>T (p.(Pro637Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983386" "0" "30" "19" "36213930" "36213930" "subst" "2.88546E-5" "01804" "KMT2B_000040" "g.36213930C>T" "" "" "" "KMT2B(NM_014727.2):c.2756C>T (p.P919L), KMT2B(NM_014727.3):c.2756C>T (p.(Pro919Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983387" "0" "50" "19" "36218405" "36218405" "subst" "0" "01804" "KMT2B_000118" "g.36218405G>A" "" "" "" "KMT2B(NM_014727.3):c.4184G>A (p.(Gly1395Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983388" "0" "30" "19" "36219471" "36219471" "subst" "0" "01804" "KMT2B_000119" "g.36219471G>A" "" "" "" "KMT2B(NM_014727.3):c.4572-204G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983389" "0" "90" "19" "36219711" "36219711" "subst" "0" "02327" "KMT2B_000120" "g.36219711G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000983390" "0" "30" "19" "36219983" "36219983" "subst" "0" "01804" "KMT2B_000121" "g.36219983G>T" "" "" "" "KMT2B(NM_014727.3):c.4779+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983391" "0" "30" "19" "36223178" "36223178" "subst" "9.63868E-5" "01804" "KMT2B_000107" "g.36223178C>G" "" "" "" "KMT2B(NM_014727.3):c.5728C>G (p.(Pro1910Ala), p.P1910A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983392" "0" "30" "19" "36223217" "36223217" "subst" "0" "01804" "KMT2B_000122" "g.36223217C>T" "" "" "" "KMT2B(NM_014727.3):c.5767C>T (p.(Pro1923Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983393" "0" "30" "19" "36227597" "36227597" "subst" "1.21997E-5" "01804" "IGFLR1_000015" "g.36227597C>T" "" "" "" "KMT2B(NM_014727.3):c.7166C>T (p.(Ala2389Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983394" "0" "10" "19" "36227810" "36227810" "subst" "0.00149474" "01804" "IGFLR1_000016" "g.36227810C>T" "" "" "" "KMT2B(NM_014727.3):c.7298-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000990009" "0" "70" "19" "36212310" "36212311" "del" "0" "03544" "KMT2B_000123" "g.36212310_36212311del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.35721408_35721409del" "{CV:3367163}" "likely pathogenic" "ACMG" "0001004629" "0" "30" "19" "36209050" "36209050" "subst" "0" "01804" "ZBTB32_000046" "g.36209050C>T" "" "" "" "KMT2B(NM_014727.1):c.130C>T (p.(Arg44Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004630" "0" "30" "19" "36209100" "36209100" "subst" "0" "01804" "ZBTB32_000047" "g.36209100G>C" "" "" "" "KMT2B(NM_014727.1):c.180G>C (p.(Glu60Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004631" "0" "30" "19" "36211339" "36211339" "subst" "0" "01804" "ZBTB32_000026" "g.36211339G>A" "" "" "" "KMT2B(NM_014727.1):c.1090G>A (p.(Glu364Lys)), KMT2B(NM_014727.2):c.1090G>A (p.E364K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004632" "0" "30" "19" "36211346" "36211346" "subst" "0" "01804" "ZBTB32_000048" "g.36211346A>G" "" "" "" "KMT2B(NM_014727.1):c.1097A>G (p.(Glu366Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004633" "0" "30" "19" "36211366" "36211368" "del" "0" "01804" "ZBTB32_000049" "g.36211366_36211368del" "" "" "" "KMT2B(NM_014727.1):c.1117_1119delGAA (p.(Glu373del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004634" "0" "30" "19" "36212107" "36212107" "subst" "0" "01804" "ZBTB32_000050" "g.36212107C>A" "" "" "" "KMT2B(NM_014727.1):c.1858C>A (p.(Pro620Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004635" "0" "50" "19" "36212107" "36212107" "subst" "0" "01804" "ZBTB32_000051" "g.36212107C>G" "" "" "" "KMT2B(NM_014727.1):c.1858C>G (p.(Pro620Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004636" "0" "30" "19" "36212201" "36212201" "subst" "0" "01804" "ZBTB32_000052" "g.36212201A>G" "" "" "" "KMT2B(NM_014727.1):c.1952A>G (p.(Gln651Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004637" "0" "30" "19" "36212302" "36212302" "subst" "3.76437E-5" "01804" "ZBTB32_000053" "g.36212302G>A" "" "" "" "KMT2B(NM_014727.1):c.2053G>A (p.(Asp685Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004638" "0" "30" "19" "36212327" "36212327" "subst" "0" "01804" "ZBTB32_000054" "g.36212327C>T" "" "" "" "KMT2B(NM_014727.1):c.2078C>T (p.(Pro693Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004639" "0" "30" "19" "36212587" "36212587" "subst" "3.78903E-5" "01804" "ZBTB32_000055" "g.36212587G>C" "" "" "" "KMT2B(NM_014727.1):c.2338G>C (p.(Val780Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004640" "0" "30" "19" "36212688" "36212688" "subst" "0" "01804" "ZBTB32_000056" "g.36212688G>C" "" "" "" "KMT2B(NM_014727.1):c.2439G>C (p.(Lys813Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004641" "0" "30" "19" "36213265" "36213265" "subst" "1.67378E-5" "01804" "KMT2B_000124" "g.36213265G>T" "" "" "" "KMT2B(NM_014727.1):c.2462G>T (p.(Ser821Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004642" "0" "30" "19" "36213278" "36213278" "subst" "0" "01804" "KMT2B_000125" "g.36213278G>T" "" "" "" "KMT2B(NM_014727.1):c.2475G>T (p.(Gln825His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004643" "0" "50" "19" "36213579" "36213579" "subst" "0" "01804" "KMT2B_000126" "g.36213579G>T" "" "" "" "KMT2B(NM_014727.1):c.2681G>T (p.(Ser894Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004644" "0" "50" "19" "36214061" "36214061" "subst" "4.066E-6" "01804" "KMT2B_000127" "g.36214061A>G" "" "" "" "KMT2B(NM_014727.1):c.2887A>G (p.(Met963Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004645" "0" "50" "19" "36214116" "36214116" "subst" "0" "02327" "KMT2B_000128" "g.36214116G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004646" "0" "30" "19" "36214675" "36214675" "subst" "0" "01804" "KMT2B_000129" "g.36214675A>C" "" "" "" "KMT2B(NM_014727.1):c.3101A>C (p.(Glu1034Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004647" "0" "50" "19" "36214737" "36214737" "subst" "0" "01804" "KMT2B_000130" "g.36214737C>T" "" "" "" "KMT2B(NM_014727.1):c.3163C>T (p.(Arg1055Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004648" "0" "50" "19" "36216453" "36216453" "subst" "4.09816E-6" "01804" "KMT2B_000131" "g.36216453A>G" "" "" "" "KMT2B(NM_014727.1):c.3716A>G (p.(Gln1239Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004649" "0" "50" "19" "36218356" "36218356" "subst" "0" "01804" "KMT2B_000132" "g.36218356C>T" "" "" "" "KMT2B(NM_014727.1):c.4135C>T (p.(Leu1379Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004650" "0" "30" "19" "36218381" "36218381" "subst" "0" "01804" "KMT2B_000133" "g.36218381T>C" "" "" "" "KMT2B(NM_014727.1):c.4160T>C (p.(Leu1387Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004651" "0" "50" "19" "36218507" "36218507" "subst" "0" "01804" "KMT2B_000134" "g.36218507T>C" "" "" "" "KMT2B(NM_014727.1):c.4286T>C (p.(Leu1429Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004652" "0" "50" "19" "36219063" "36219063" "subst" "0" "01804" "KMT2B_000135" "g.36219063G>A" "" "" "" "KMT2B(NM_014727.1):c.4562G>A (p.(Arg1521Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004653" "0" "50" "19" "36223529" "36223531" "del" "0" "01804" "KMT2B_000136" "g.36223529_36223531del" "" "" "" "KMT2B(NM_014727.1):c.6079_6081delGAG (p.(Glu2027del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004654" "0" "30" "19" "36223620" "36223620" "subst" "8.53119E-6" "01804" "KMT2B_000137" "g.36223620G>A" "" "" "" "KMT2B(NM_014727.1):c.6170G>A (p.(Arg2057His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004655" "0" "30" "19" "36223686" "36223686" "subst" "0" "01804" "KMT2B_000138" "g.36223686G>T" "" "" "" "KMT2B(NM_014727.1):c.6236G>T (p.(Arg2079Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004656" "0" "30" "19" "36223989" "36223989" "subst" "6.12933E-6" "01804" "KMT2B_000139" "g.36223989C>T" "" "" "" "KMT2B(NM_014727.1):c.6539C>T (p.(Ala2180Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004657" "0" "50" "19" "36224112" "36224112" "subst" "0" "01804" "KMT2B_000140" "g.36224112C>G" "" "" "" "KMT2B(NM_014727.1):c.6662C>G (p.(Pro2221Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004658" "0" "50" "19" "36224183" "36224183" "subst" "7.07774E-6" "01804" "KMT2B_000141" "g.36224183G>C" "" "" "" "KMT2B(NM_014727.1):c.6733G>C (p.(Val2245Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004659" "0" "30" "19" "36224309" "36224309" "subst" "2.02966E-5" "01804" "KMT2B_000142" "g.36224309C>T" "" "" "" "KMT2B(NM_014727.1):c.6859C>T (p.(Arg2287Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004660" "0" "30" "19" "36224340" "36224340" "subst" "0" "01804" "KMT2B_000143" "g.36224340C>A" "" "" "" "KMT2B(NM_014727.1):c.6890C>A (p.(Ala2297Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004661" "0" "30" "19" "36224532" "36224532" "subst" "0" "01804" "KMT2B_000144" "g.36224532C>T" "" "" "" "KMT2B(NM_014727.1):c.6994C>T (p.(Arg2332Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004662" "0" "50" "19" "36228099" "36228099" "subst" "0" "01804" "IGFLR1_000017" "g.36228099G>T" "" "" "" "KMT2B(NM_014727.1):c.7485G>T (p.(Gln2495His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015782" "0" "50" "19" "36212333" "36212333" "subst" "0" "02325" "ZBTB32_000057" "g.36212333C>T" "" "" "" "KMT2B(NM_014727.3):c.2084C>T (p.A695V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015783" "0" "50" "19" "36216154" "36216154" "subst" "0" "02329" "KMT2B_000145" "g.36216154G>A" "" "" "" "KMT2B(NM_014727.3):c.3562G>A (p.G1188R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015784" "0" "50" "19" "36222944" "36222944" "subst" "0" "02325" "KMT2B_000146" "g.36222944G>T" "" "" "" "KMT2B(NM_014727.3):c.5573G>T (p.R1858L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015785" "0" "30" "19" "36227600" "36227600" "subst" "4.0664E-5" "02325" "IGFLR1_000018" "g.36227600C>T" "" "" "" "KMT2B(NM_014727.3):c.7169C>T (p.S2390L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001021235" "0" "70" "19" "36210898" "36210898" "del" "0" "01164" "KMT2B_000147" "g.36210898del" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP" "De novo" "-" "" "0" "" "" "g.35719996del" "" "pathogenic (dominant)" "ACMG" "0001042868" "0" "50" "19" "36212581" "36212581" "subst" "0" "01804" "ZBTB32_000058" "g.36212581G>T" "" "" "" "KMT2B(NM_014727.3):c.2332G>T (p.(Ala778Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042869" "0" "50" "19" "36212696" "36212696" "subst" "0" "01804" "ZBTB32_000059" "g.36212696C>T" "" "" "" "KMT2B(NM_014727.3):c.2447C>T (p.(Ala816Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042870" "0" "30" "19" "36213909" "36213909" "subst" "0.000102583" "01804" "KMT2B_000148" "g.36213909C>T" "" "" "" "KMT2B(NM_014727.3):c.2735C>T (p.(Ala912Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042871" "0" "70" "19" "36218074" "36218074" "subst" "0" "02327" "KMT2B_000149" "g.36218074T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042872" "0" "30" "19" "36223242" "36223242" "subst" "0.000116416" "01804" "KMT2B_000150" "g.36223242C>A" "" "" "" "KMT2B(NM_014727.3):c.5792C>A (p.(Pro1931His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042873" "0" "30" "19" "36223698" "36223698" "subst" "1.34569E-5" "01804" "KMT2B_000151" "g.36223698C>T" "" "" "" "KMT2B(NM_014727.3):c.6248C>T (p.(Thr2083Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042874" "0" "30" "19" "36224351" "36224351" "subst" "0" "01804" "KMT2B_000152" "g.36224351G>C" "" "" "" "KMT2B(NM_014727.3):c.6901G>C (p.(Asp2301His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042875" "0" "70" "19" "36228809" "36228813" "del" "0" "01804" "IGFLR1_000019" "g.36228809_36228813del" "" "" "" "KMT2B(NM_014727.3):c.7708_7712del (p.(Lys2570Aspfs*21))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KMT2B ## Count = 244 "{{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}}" "0000283500" "00024655" "50" "1566" "0" "1566" "0" "c.1566G>C" "r.(?)" "p.(Lys522Asn)" "" "0000290425" "00024655" "30" "306" "0" "306" "0" "c.306C>A" "r.(?)" "p.(Gly102=)" "" "0000290426" "00024655" "50" "3077" "0" "3077" "0" "c.3077C>T" "r.(?)" "p.(Thr1026Met)" "" "0000290427" "00024655" "30" "6051" "0" "6051" "0" "c.6051C>T" "r.(?)" "p.(His2017=)" "" "0000297430" "00024655" "10" "15599" "0" "15599" "0" "c.*7451G>C" "r.(=)" "p.(=)" "" "0000299167" "00024655" "10" "15599" "0" "15599" "0" "c.*7451G>C" "r.(=)" "p.(=)" "" "0000306555" "00024655" "10" "15599" "0" "15599" "0" "c.*7451G>C" "r.(=)" "p.(=)" "" "0000319191" "00024655" "50" "13915" "0" "13915" "0" "c.*5767T>C" "r.(=)" "p.(=)" "" "0000339906" "00024655" "10" "6297" "0" "6297" "0" "c.6297A>G" "r.(?)" "p.(Ala2099=)" "" "0000341265" "00024655" "50" "6293" "0" "6293" "0" "c.6293C>A" "r.(?)" "p.(Ala2098Asp)" "" "0000342059" "00024655" "50" "5114" "0" "5114" "0" "c.5114G>A" "r.(?)" "p.(Arg1705Gln)" "" "0000350005" "00024655" "50" "7544" "0" "7544" "0" "c.7544A>G" "r.(?)" "p.(Tyr2515Cys)" "" "0000566959" "00024655" "30" "398" "0" "398" "0" "c.398C>T" "r.(?)" "p.(Ala133Val)" "" "0000566960" "00024655" "30" "516" "0" "516" "0" "c.516C>A" "r.(?)" "p.(Thr172=)" "" "0000566961" "00024655" "30" "759" "0" "759" "0" "c.759A>G" "r.(?)" "p.(Pro253=)" "" "0000566962" "00024655" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(Arg295=)" "" "0000566963" "00024655" "30" "1212" "0" "1212" "0" "c.1212G>A" "r.(?)" "p.(Pro404=)" "" "0000566965" "00024655" "50" "1272" "0" "1274" "0" "c.1272_1274del" "r.(?)" "p.(Pro427del)" "" "0000566966" "00024655" "10" "1471" "0" "1471" "0" "c.1471G>A" "r.(?)" "p.(Gly491Ser)" "" "0000566967" "00024655" "30" "1504" "0" "1504" "0" "c.1504G>A" "r.(?)" "p.(Ala502Thr)" "" "0000566976" "00024655" "30" "2183" "0" "2183" "0" "c.2183G>A" "r.(?)" "p.(Ser728Asn)" "" "0000566978" "00024655" "30" "2268" "0" "2279" "0" "c.2268_2279dup" "r.(?)" "p.(Gln759_Pro762dup)" "" "0000566979" "00024655" "30" "2519" "0" "2519" "0" "c.2519G>A" "r.(?)" "p.(Gly840Asp)" "" "0000566980" "00024655" "30" "2565" "0" "2565" "0" "c.2565G>A" "r.(?)" "p.(Arg855=)" "" "0000566982" "00024655" "10" "3059" "-3" "3059" "-3" "c.3059-3G>A" "r.spl?" "p.?" "" "0000566983" "00024655" "30" "3323" "0" "3323" "0" "c.3323C>T" "r.(?)" "p.(Pro1108Leu)" "" "0000566984" "00024655" "30" "3495" "0" "3495" "0" "c.3495C>T" "r.(?)" "p.(Pro1165=)" "" "0000566985" "00024655" "30" "4218" "0" "4218" "0" "c.4218C>T" "r.(?)" "p.(Ser1406=)" "" "0000566988" "00024655" "30" "5280" "0" "5280" "0" "c.5280C>T" "r.(?)" "p.(Cys1760=)" "" "0000566989" "00024655" "30" "5462" "0" "5462" "0" "c.5462C>T" "r.(?)" "p.(Pro1821Leu)" "" "0000566991" "00024655" "50" "5666" "-2" "5666" "-2" "c.5666-2A>G" "r.spl?" "p.?" "" "0000566993" "00024655" "30" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Pro1931Leu)" "" "0000566994" "00024655" "50" "5912" "0" "5912" "0" "c.5912A>G" "r.(?)" "p.(Glu1971Gly)" "" "0000566995" "00024655" "50" "6009" "0" "6009" "0" "c.6009C>G" "r.(?)" "p.(Phe2003Leu)" "" "0000566996" "00024655" "30" "6056" "0" "6056" "0" "c.6056G>C" "r.(?)" "p.(Gly2019Ala)" "" "0000566997" "00024655" "50" "6284" "0" "6284" "0" "c.6284T>C" "r.(?)" "p.(Val2095Ala)" "" "0000566998" "00024655" "30" "6321" "0" "6321" "0" "c.6321G>A" "r.(?)" "p.(Glu2107=)" "" "0000566999" "00024655" "10" "6330" "0" "6330" "0" "c.6330A>G" "r.(?)" "p.(Pro2110=)" "" "0000567000" "00024655" "30" "6514" "0" "6514" "0" "c.6514G>A" "r.(?)" "p.(Val2172Ile)" "" "0000567001" "00024655" "30" "7060" "0" "7060" "0" "c.7060G>A" "r.(?)" "p.(Glu2354Lys)" "" "0000567002" "00024655" "50" "7063" "0" "7063" "0" "c.7063C>T" "r.(?)" "p.(Arg2355Trp)" "" "0000567003" "00024655" "50" "7150" "0" "7150" "0" "c.7150C>T" "r.(?)" "p.(His2384Tyr)" "" "0000567004" "00024655" "30" "7185" "0" "7185" "0" "c.7185G>A" "r.(?)" "p.(Glu2395=)" "" "0000567005" "00024655" "50" "7276" "0" "7276" "0" "c.7276G>A" "r.(?)" "p.(Val2426Ile)" "" "0000567006" "00024655" "70" "7532" "0" "7532" "0" "c.7532G>A" "r.(?)" "p.(Arg2511Gln)" "" "0000617542" "00024655" "30" "3397" "0" "3397" "0" "c.3397T>G" "r.(?)" "p.(Leu1133Val)" "" "0000617544" "00024655" "30" "3840" "0" "3840" "0" "c.3840G>C" "r.(?)" "p.(Leu1280=)" "" "0000617545" "00024655" "30" "4004" "-6" "4004" "-6" "c.4004-6C>T" "r.(=)" "p.(=)" "" "0000617546" "00024655" "30" "4489" "0" "4489" "0" "c.4489C>T" "r.(?)" "p.(Leu1497=)" "" "0000617548" "00024655" "30" "4867" "0" "4867" "0" "c.4867G>A" "r.(?)" "p.(Asp1623Asn)" "" "0000617549" "00024655" "30" "5076" "4" "5076" "4" "c.5076+4G>A" "r.spl?" "p.?" "" "0000617550" "00024655" "30" "6027" "0" "6027" "0" "c.6027C>T" "r.(?)" "p.(Ala2009=)" "" "0000617551" "00024655" "30" "6685" "0" "6685" "0" "c.6685C>T" "r.(?)" "p.(Pro2229Ser)" "" "0000617552" "00024655" "30" "6760" "0" "6760" "0" "c.6760C>A" "r.(?)" "p.(Pro2254Thr)" "" "0000617553" "00024655" "50" "7318" "0" "7318" "0" "c.7318G>A" "r.(?)" "p.(Glu2440Lys)" "" "0000623977" "00024655" "30" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74His)" "" "0000623978" "00024655" "30" "2489" "0" "2489" "0" "c.2489C>A" "r.(?)" "p.(Ala830Asp)" "" "0000623979" "00024655" "50" "2716" "0" "2716" "0" "c.2716A>C" "r.(?)" "p.(Thr906Pro)" "" "0000623980" "00024655" "50" "2756" "0" "2756" "0" "c.2756C>T" "r.(?)" "p.(Pro919Leu)" "" "0000623981" "00024655" "50" "3206" "0" "3206" "0" "c.3206C>G" "r.(?)" "p.(Ser1069Cys)" "" "0000645301" "00024655" "70" "4931" "0" "4931" "0" "c.4931G>T" "r.4931g>u" "p.(Cys1644Phe)" "" "0000658544" "00024655" "90" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297Ter)" "" "0000658545" "00024655" "30" "1169" "0" "1169" "0" "c.1169T>C" "r.(?)" "p.(Met390Thr)" "" "0000658547" "00024655" "90" "4545" "0" "4545" "0" "c.4545C>A" "r.(?)" "p.(Tyr1515Ter)" "" "0000660096" "00024655" "70" "6804" "0" "6805" "0" "c.6804_6805del" "r.(?)" "p.(Ala2269Glnfs*33)" "" "0000663712" "00024655" "90" "3400" "0" "3400" "0" "c.3400C>T" "r.(?)" "p.(Gln1134Ter)" "" "0000673997" "00024655" "70" "7828" "0" "7828" "0" "c.7828C>T" "r.(?)" "p.(Arg2610Cys)" "36" "0000681374" "00024655" "50" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Leu196Phe)" "" "0000681375" "00024655" "50" "4784" "0" "4784" "0" "c.4784C>T" "r.(?)" "p.(Ala1595Val)" "" "0000681376" "00024655" "90" "5113" "0" "5113" "0" "c.5113C>T" "r.(?)" "p.(Arg1705Ter)" "" "0000681377" "00024655" "30" "5759" "0" "5759" "0" "c.5759C>T" "r.(?)" "p.(Ala1920Val)" "" "0000681378" "00024655" "30" "5792" "0" "5792" "0" "c.5792C>T" "r.(?)" "p.(Pro1931Leu)" "" "0000681379" "00024655" "30" "5928" "0" "5928" "0" "c.5928C>T" "r.(?)" "p.(Asp1976=)" "" "0000681380" "00024655" "30" "6174" "0" "6174" "0" "c.6174T>C" "r.(?)" "p.(Ile2058=)" "" "0000681381" "00024655" "30" "6867" "0" "6867" "0" "c.6867G>A" "r.(?)" "p.(Pro2289=)" "" "0000681382" "00024655" "30" "6895" "0" "6895" "0" "c.6895C>T" "r.(?)" "p.(Arg2299Trp)" "" "0000681383" "00024655" "30" "7297" "7" "7297" "7" "c.7297+7G>T" "r.(=)" "p.(=)" "" "0000681384" "00024655" "90" "7357" "0" "7358" "0" "c.7357_7358insGTCT" "r.(?)" "p.(His2453ArgfsTer6)" "" "0000681385" "00024655" "30" "7755" "0" "7755" "0" "c.7755C>T" "r.(?)" "p.(His2585=)" "" "0000681386" "00024655" "30" "16315" "0" "16315" "0" "c.*8167T>G" "r.(=)" "p.(=)" "" "0000692764" "00024655" "30" "649" "0" "649" "0" "c.649C>T" "r.(?)" "p.(Arg217Trp)" "" "0000692765" "00024655" "30" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Glu364Lys)" "" "0000692766" "00024655" "30" "1756" "0" "1756" "0" "c.1756G>A" "r.(?)" "p.(Ala586Thr)" "" "0000692767" "00024655" "30" "3276" "0" "3276" "0" "c.3276G>A" "r.(?)" "p.(Ser1092=)" "" "0000692768" "00024655" "30" "3747" "0" "3747" "0" "c.3747C>T" "r.(?)" "p.(Cys1249=)" "" "0000692769" "00024655" "30" "4219" "0" "4219" "0" "c.4219G>A" "r.(?)" "p.(Gly1407Arg)" "" "0000692770" "00024655" "30" "5019" "0" "5019" "0" "c.5019C>T" "r.(?)" "p.(Ile1673=)" "" "0000692771" "00024655" "30" "6249" "0" "6249" "0" "c.6249G>T" "r.(?)" "p.(Thr2083=)" "" "0000694193" "00024655" "70" "1808" "0" "1808" "0" "c.1808dup" "r.(?)" "p.(Leu604Profs*72)" "" "0000694857" "00024655" "50" "535" "0" "535" "0" "c.535C>T" "r.(?)" "p.(Arg179Trp)" "" "0000694858" "00024655" "50" "640" "0" "640" "0" "c.640T>C" "r.(?)" "p.(Ser214Pro)" "" "0000694859" "00024655" "50" "1144" "0" "1144" "0" "c.1144G>A" "r.(?)" "p.(Glu382Lys)" "" "0000694860" "00024655" "50" "1790" "0" "1790" "0" "c.1790C>T" "r.(?)" "p.(Pro597Leu)" "" "0000694861" "00024655" "90" "1810" "0" "1810" "0" "c.1810dup" "r.(?)" "p.(Leu604Profs*72)" "" "0000694862" "00024655" "50" "3317" "0" "3317" "0" "c.3317G>A" "r.(?)" "p.(Arg1106Gln)" "" "0000694863" "00024655" "70" "3665" "0" "3665" "0" "c.3665G>A" "r.(?)" "p.(Cys1222Tyr)" "" "0000694864" "00024655" "50" "3857" "0" "3857" "0" "c.3857C>T" "r.(?)" "p.(Thr1286Ile)" "" "0000694865" "00024655" "10" "4219" "0" "4219" "0" "c.4219G>A" "r.(?)" "p.(Gly1407Arg)" "" "0000694866" "00024655" "50" "4445" "0" "4445" "0" "c.4445G>C" "r.(?)" "p.(Gly1482Ala)" "" "0000694867" "00024655" "50" "4784" "0" "4784" "0" "c.4784C>T" "r.(?)" "p.(Ala1595Val)" "" "0000694868" "00024655" "70" "5342" "0" "5342" "0" "c.5342T>C" "r.(?)" "p.(Leu1781Pro)" "" "0000694869" "00024655" "50" "5582" "0" "5582" "0" "c.5582C>T" "r.(?)" "p.(Ser1861Leu)" "" "0000694870" "00024655" "30" "6409" "0" "6409" "0" "c.6409C>T" "r.(?)" "p.(Pro2137Ser)" "" "0000694871" "00024655" "30" "6628" "0" "6628" "0" "c.6628C>T" "r.(?)" "p.(Pro2210Ser)" "" "0000694872" "00024655" "50" "6782" "0" "6782" "0" "c.6782C>T" "r.(?)" "p.(Thr2261Met)" "" "0000694873" "00024655" "50" "6877" "0" "6877" "0" "c.6877C>T" "r.(?)" "p.(Pro2293Ser)" "" "0000694936" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694937" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694938" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694939" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694940" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694941" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694942" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694943" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694944" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694945" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694946" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694947" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694948" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694949" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694950" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694951" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694952" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000694953" "00024655" "90" "" "0" "" "0" "c.-16_*320{0}" "r.0" "p.0" "" "0000727268" "00024655" "50" "221" "0" "221" "0" "c.221G>A" "r.(?)" "p.(Arg74His)" "" "0000727269" "00024655" "30" "626" "0" "626" "0" "c.626G>A" "r.(?)" "p.(Arg209Gln)" "" "0000727270" "00024655" "50" "745" "0" "745" "0" "c.745A>G" "r.(?)" "p.(Lys249Glu)" "" "0000727271" "00024655" "50" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Cys)" "" "0000727272" "00024655" "30" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Lys)" "" "0000727273" "00024655" "30" "2268" "0" "2279" "0" "c.2268_2279dup" "r.(?)" "p.(Gln759_Pro762dup)" "" "0000727274" "00024655" "50" "3296" "0" "3296" "0" "c.3296G>A" "r.(?)" "p.(Gly1099Asp)" "" "0000727275" "00024655" "30" "3421" "0" "3421" "0" "c.3421C>T" "r.(?)" "p.(Leu1141=)" "" "0000727276" "00024655" "30" "3714" "0" "3714" "0" "c.3714C>G" "r.(?)" "p.(Pro1238=)" "" "0000727277" "00024655" "30" "4393" "-7" "4393" "-7" "c.4393-7C>T" "r.(=)" "p.(=)" "" "0000727278" "00024655" "50" "4561" "0" "4561" "0" "c.4561C>T" "r.(?)" "p.(Arg1521Trp)" "" "0000727279" "00024655" "30" "4845" "0" "4845" "0" "c.4845G>T" "r.(?)" "p.(Ser1615=)" "" "0000727280" "00024655" "30" "4857" "0" "4857" "0" "c.4857C>T" "r.(?)" "p.(Phe1619=)" "" "0000727281" "00024655" "30" "5065" "0" "5065" "0" "c.5065C>G" "r.(?)" "p.(Leu1689Val)" "" "0000808821" "00024655" "50" "1209" "0" "1211" "0" "c.1209_1211del" "r.(?)" "p.(Pro405del)" "" "0000808822" "00024655" "30" "1398" "0" "1398" "0" "c.1398C>T" "r.(?)" "p.(Ser466=)" "" "0000808823" "00024655" "50" "3365" "0" "3365" "0" "c.3365G>A" "r.(?)" "p.(Ser1122Asn)" "" "0000808824" "00024655" "30" "3711" "0" "3711" "0" "c.3711G>A" "r.(?)" "p.(Leu1237=)" "" "0000808825" "00024655" "30" "4454" "0" "4454" "0" "c.4454C>T" "r.(?)" "p.(Pro1485Leu)" "" "0000808826" "00024655" "30" "4599" "0" "4599" "0" "c.4599C>T" "r.(?)" "p.(Pro1533=)" "" "0000808827" "00024655" "30" "7035" "0" "7035" "0" "c.7035G>A" "r.(?)" "p.(Gly2345=)" "" "0000808829" "00024655" "30" "15300" "0" "15300" "0" "c.*7152G>A" "r.(=)" "p.(=)" "" "0000823619" "00024655" "50" "4886" "0" "4891" "0" "c.4886_4891del" "r.(?)" "p.(Val1629_His1630del)" "" "0000832183" "00024655" "90" "5073" "0" "5073" "0" "c.5073C>T" "r.(5072_5076del)" "p.(Lys1692AsnfsTer8)" "23" "0000833383" "00024655" "50" "1160" "0" "1160" "0" "c.1160C>T" "r.(?)" "p.(Ala387Val)" "" "0000833384" "00024655" "30" "3529" "-3" "3529" "-3" "c.3529-3dup" "r.(?)" "p.(=)" "" "0000855528" "00024655" "30" "2265" "0" "2265" "0" "c.2265A>G" "r.(?)" "p.(Pro755=)" "" "0000855529" "00024655" "30" "3317" "0" "3317" "0" "c.3317G>A" "r.(?)" "p.(Arg1106Gln)" "" "0000855530" "00024655" "30" "4003" "6" "4003" "6" "c.4003+6G>T" "r.(=)" "p.(=)" "" "0000855531" "00024655" "50" "4561" "0" "4561" "0" "c.4561C>T" "r.(?)" "p.(Arg1521Trp)" "" "0000855532" "00024655" "30" "7505" "0" "7505" "0" "c.7505C>T" "r.(?)" "p.(Pro2502Leu)" "" "0000866027" "00024655" "30" "2385" "0" "2385" "0" "c.2385C>T" "r.(?)" "p.(Leu795=)" "" "0000866028" "00024655" "50" "3065" "0" "3065" "0" "c.3065C>T" "r.(?)" "p.(Thr1022Met)" "" "0000866029" "00024655" "50" "3317" "0" "3317" "0" "c.3317G>A" "r.(?)" "p.(Arg1106Gln)" "" "0000866030" "00024655" "50" "5434" "0" "5434" "0" "c.5434T>C" "r.(?)" "p.(Ser1812Pro)" "" "0000866031" "00024655" "50" "5435" "0" "5435" "0" "c.5435C>T" "r.(?)" "p.(Ser1812Leu)" "" "0000866032" "00024655" "30" "6028" "0" "6028" "0" "c.6028G>T" "r.(?)" "p.(Ala2010Ser)" "" "0000866033" "00024655" "50" "8016" "0" "8016" "0" "c.8016T>G" "r.(?)" "p.(Ile2672Met)" "" "0000894930" "00024655" "50" "988" "0" "993" "0" "c.988_993del" "r.(?)" "p.(Gly330_Gln331del)" "" "0000894931" "00024655" "50" "2050" "0" "2050" "0" "c.2050G>A" "r.(?)" "p.(Ala684Thr)" "" "0000894932" "00024655" "90" "5230" "0" "5233" "0" "c.5230_5233del" "r.(?)" "p.(Ser1744Ilefs*150)" "" "0000894933" "00024655" "30" "6028" "0" "6028" "0" "c.6028G>T" "r.(?)" "p.(Ala2010Ser)" "" "0000894934" "00024655" "50" "6509" "0" "6509" "0" "c.6509C>T" "r.(?)" "p.(Pro2170Leu)" "" "0000894935" "00024655" "50" "7337" "0" "7337" "0" "c.7337G>A" "r.(?)" "p.(Arg2446Gln)" "" "0000915199" "00024655" "70" "651" "0" "654" "0" "c.651_654del" "r.(?)" "p.(Arg218Leufs*20)" "" "0000915200" "00024655" "50" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Arg525Trp)" "" "0000915201" "00024655" "30" "5728" "0" "5728" "0" "c.5728C>G" "r.(?)" "p.(Pro1910Ala)" "" "0000915202" "00024655" "30" "15300" "0" "15300" "0" "c.*7152G>A" "r.(=)" "p.(=)" "" "0000926875" "00024655" "50" "5107" "0" "5107" "0" "c.5107C>T" "r.(?)" "p.(Leu1703Phe)" "" "0000926876" "00024655" "50" "5741" "0" "5741" "0" "c.5741G>T" "r.(?)" "p.(Arg1914Leu)" "" "0000931041" "00024655" "50" "2491" "0" "2491" "0" "c.2491G>A" "r.(?)" "p.(Gly831Arg)" "" "0000931042" "00024655" "30" "3831" "0" "3831" "0" "c.3831G>A" "r.(?)" "p.(=)" "" "0000931043" "00024655" "50" "4354" "0" "4354" "0" "c.4354G>A" "r.(?)" "p.(Val1452Met)" "" "0000931044" "00024655" "50" "4393" "0" "4393" "0" "c.4393C>T" "r.(?)" "p.(His1465Tyr)" "" "0000931045" "00024655" "30" "6628" "0" "6628" "0" "c.6628C>T" "r.(?)" "p.(Pro2210Ser)" "" "0000931046" "00024655" "50" "6967" "0" "6967" "0" "c.6967C>T" "r.(?)" "p.(Arg2323Cys)" "" "0000951275" "00024655" "30" "1126" "0" "1128" "0" "c.1126_1128del" "r.(?)" "p.(Lys376del)" "" "0000951276" "00024655" "50" "7006" "0" "7006" "0" "c.7006G>T" "r.(?)" "p.(Asp2336Tyr)" "" "0000969699" "00024655" "30" "5897" "0" "5897" "0" "c.5897C>T" "r.(?)" "p.(Ser1966Phe)" "" "0000969700" "00024655" "70" "6733" "0" "6757" "0" "c.6733_6757dup" "r.(?)" "p.(Pro2253Argfs*58)" "" "0000983383" "00024655" "30" "625" "0" "625" "0" "c.625C>T" "r.(?)" "p.(Arg209Trp)" "" "0000983384" "00024655" "50" "971" "0" "971" "0" "c.971A>G" "r.(?)" "p.(Glu324Gly)" "" "0000983385" "00024655" "30" "1909" "0" "1909" "0" "c.1909C>T" "r.(?)" "p.(Pro637Ser)" "" "0000983386" "00024655" "30" "2756" "0" "2756" "0" "c.2756C>T" "r.(?)" "p.(Pro919Leu)" "" "0000983387" "00024655" "50" "4184" "0" "4184" "0" "c.4184G>A" "r.(?)" "p.(Gly1395Glu)" "" "0000983388" "00024655" "30" "4572" "-204" "4572" "-204" "c.4572-204G>A" "r.(=)" "p.(=)" "" "0000983389" "00024655" "90" "4608" "0" "4608" "0" "c.4608G>A" "r.(?)" "p.(=)" "" "0000983390" "00024655" "30" "4779" "6" "4779" "6" "c.4779+6G>T" "r.(=)" "p.(=)" "" "0000983391" "00024655" "30" "5728" "0" "5728" "0" "c.5728C>G" "r.(?)" "p.(Pro1910Ala)" "" "0000983392" "00024655" "30" "5767" "0" "5767" "0" "c.5767C>T" "r.(?)" "p.(Pro1923Ser)" "" "0000983393" "00024655" "30" "7166" "0" "7166" "0" "c.7166C>T" "r.(?)" "p.(Ala2389Val)" "" "0000983394" "00024655" "10" "7298" "-3" "7298" "-3" "c.7298-3C>T" "r.spl?" "p.?" "" "0000990009" "00024655" "70" "2061" "0" "2062" "0" "c.2061_2062del" "r.(?)" "p.(Pro688Serfs*2)" "3" "0001004629" "00024655" "30" "130" "0" "130" "0" "c.130C>T" "r.(?)" "p.(Arg44Trp)" "" "0001004630" "00024655" "30" "180" "0" "180" "0" "c.180G>C" "r.(?)" "p.(Glu60Asp)" "" "0001004631" "00024655" "30" "1090" "0" "1090" "0" "c.1090G>A" "r.(?)" "p.(Glu364Lys)" "" "0001004632" "00024655" "30" "1097" "0" "1097" "0" "c.1097A>G" "r.(?)" "p.(Glu366Gly)" "" "0001004633" "00024655" "30" "1117" "0" "1119" "0" "c.1117_1119del" "r.(?)" "p.(Glu373del)" "" "0001004634" "00024655" "30" "1858" "0" "1858" "0" "c.1858C>A" "r.(?)" "p.(Pro620Thr)" "" "0001004635" "00024655" "50" "1858" "0" "1858" "0" "c.1858C>G" "r.(?)" "p.(Pro620Ala)" "" "0001004636" "00024655" "30" "1952" "0" "1952" "0" "c.1952A>G" "r.(?)" "p.(Gln651Arg)" "" "0001004637" "00024655" "30" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Asp685Asn)" "" "0001004638" "00024655" "30" "2078" "0" "2078" "0" "c.2078C>T" "r.(?)" "p.(Pro693Leu)" "" "0001004639" "00024655" "30" "2338" "0" "2338" "0" "c.2338G>C" "r.(?)" "p.(Val780Leu)" "" "0001004640" "00024655" "30" "2439" "0" "2439" "0" "c.2439G>C" "r.(?)" "p.(Lys813Asn)" "" "0001004641" "00024655" "30" "2462" "0" "2462" "0" "c.2462G>T" "r.(?)" "p.(Ser821Ile)" "" "0001004642" "00024655" "30" "2475" "0" "2475" "0" "c.2475G>T" "r.(?)" "p.(Gln825His)" "" "0001004643" "00024655" "50" "2681" "0" "2681" "0" "c.2681G>T" "r.(?)" "p.(Ser894Ile)" "" "0001004644" "00024655" "50" "2887" "0" "2887" "0" "c.2887A>G" "r.(?)" "p.(Met963Val)" "" "0001004645" "00024655" "50" "2942" "0" "2942" "0" "c.2942G>A" "r.(?)" "p.(Cys981Tyr)" "" "0001004646" "00024655" "30" "3101" "0" "3101" "0" "c.3101A>C" "r.(?)" "p.(Glu1034Ala)" "" "0001004647" "00024655" "50" "3163" "0" "3163" "0" "c.3163C>T" "r.(?)" "p.(Arg1055Trp)" "" "0001004648" "00024655" "50" "3716" "0" "3716" "0" "c.3716A>G" "r.(?)" "p.(Gln1239Arg)" "" "0001004649" "00024655" "50" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Leu1379Phe)" "" "0001004650" "00024655" "30" "4160" "0" "4160" "0" "c.4160T>C" "r.(?)" "p.(Leu1387Pro)" "" "0001004651" "00024655" "50" "4286" "0" "4286" "0" "c.4286T>C" "r.(?)" "p.(Leu1429Pro)" "" "0001004652" "00024655" "50" "4562" "0" "4562" "0" "c.4562G>A" "r.(?)" "p.(Arg1521Gln)" "" "0001004653" "00024655" "50" "6079" "0" "6081" "0" "c.6079_6081del" "r.(?)" "p.(Glu2027del)" "" "0001004654" "00024655" "30" "6170" "0" "6170" "0" "c.6170G>A" "r.(?)" "p.(Arg2057His)" "" "0001004655" "00024655" "30" "6236" "0" "6236" "0" "c.6236G>T" "r.(?)" "p.(Arg2079Leu)" "" "0001004656" "00024655" "30" "6539" "0" "6539" "0" "c.6539C>T" "r.(?)" "p.(Ala2180Val)" "" "0001004657" "00024655" "50" "6662" "0" "6662" "0" "c.6662C>G" "r.(?)" "p.(Pro2221Arg)" "" "0001004658" "00024655" "50" "6733" "0" "6733" "0" "c.6733G>C" "r.(?)" "p.(Val2245Leu)" "" "0001004659" "00024655" "30" "6859" "0" "6859" "0" "c.6859C>T" "r.(?)" "p.(Arg2287Trp)" "" "0001004660" "00024655" "30" "6890" "0" "6890" "0" "c.6890C>A" "r.(?)" "p.(Ala2297Asp)" "" "0001004661" "00024655" "30" "6994" "0" "6994" "0" "c.6994C>T" "r.(?)" "p.(Arg2332Cys)" "" "0001004662" "00024655" "50" "7485" "0" "7485" "0" "c.7485G>T" "r.(?)" "p.(Gln2495His)" "" "0001015782" "00024655" "50" "2084" "0" "2084" "0" "c.2084C>T" "r.(?)" "p.(Ala695Val)" "" "0001015783" "00024655" "50" "3562" "0" "3562" "0" "c.3562G>A" "r.(?)" "p.(Gly1188Arg)" "" "0001015784" "00024655" "50" "5573" "0" "5573" "0" "c.5573G>T" "r.(?)" "p.(Arg1858Leu)" "" "0001015785" "00024655" "30" "7169" "0" "7169" "0" "c.7169C>T" "r.(?)" "p.(Ser2390Leu)" "" "0001021235" "00024655" "70" "649" "0" "649" "0" "c.649del" "r.(649del)" "p.(Arg217Glyfs*22)" "3" "0001042868" "00024655" "50" "2332" "0" "2332" "0" "c.2332G>T" "r.(?)" "p.(Ala778Ser)" "" "0001042869" "00024655" "50" "2447" "0" "2447" "0" "c.2447C>T" "r.(?)" "p.(Ala816Val)" "" "0001042870" "00024655" "30" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Ala912Val)" "" "0001042871" "00024655" "70" "4021" "0" "4021" "0" "c.4021T>A" "r.(?)" "p.(Cys1341Ser)" "" "0001042872" "00024655" "30" "5792" "0" "5792" "0" "c.5792C>A" "r.(?)" "p.(Pro1931His)" "" "0001042873" "00024655" "30" "6248" "0" "6248" "0" "c.6248C>T" "r.(?)" "p.(Thr2083Met)" "" "0001042874" "00024655" "30" "6901" "0" "6901" "0" "c.6901G>C" "r.(?)" "p.(Asp2301His)" "" "0001042875" "00024655" "70" "7708" "0" "7712" "0" "c.7708_7712del" "r.(?)" "p.(Lys2570Aspfs*21)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{variantid}}" "0000289372" "0000645301" "0000297494" "0000660096" "0000300813" "0000663712" "0000307372" "0000673997" "0000312592" "0000694193" "0000313123" "0000694857" "0000313124" "0000694858" "0000313125" "0000694859" "0000313126" "0000694860" "0000313127" "0000694861" "0000313128" "0000694862" "0000313129" "0000694863" "0000313130" "0000694864" "0000313131" "0000694865" "0000313132" "0000694866" "0000313133" "0000694867" "0000313134" "0000694868" "0000313135" "0000694869" "0000313136" "0000694870" "0000313137" "0000694871" "0000313138" "0000694872" "0000313139" "0000694873" "0000313202" "0000694936" "0000313203" "0000694937" "0000313204" "0000694938" "0000313205" "0000694939" "0000313206" "0000694940" "0000313207" "0000694941" "0000313208" "0000694942" "0000313209" "0000694943" "0000313210" "0000694944" "0000313211" "0000694945" "0000313212" "0000694946" "0000313213" "0000694947" "0000313214" "0000694948" "0000313215" "0000694949" "0000313216" "0000694950" "0000313217" "0000694951" "0000313218" "0000694952" "0000313219" "0000694953" "0000393033" "0000823619" "0000399600" "0000832183" "0000400486" "0000833383" "0000400486" "0000833384" "0000455034" "0000990009" "0000461860" "0001021235"