### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KAT6A) # 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}}" "KAT6A" "K(lysine) acetyltransferase 6A" "8" "p11" "unknown" "NC_000008.10" "UD_132463730016" "" "https://www.LOVD.nl/KAT6A" "" "1" "13013" "7994" "601408" "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/KAT6A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-11-09 16:23:57" "00000" "2025-07-08 13:22:38" ## 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}}" "00010304" "KAT6A" "transcript variant 3" "001" "NM_006766.3" "" "NP_006757.2" "" "" "" "-412" "8741" "6015" "41909505" "41786997" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00156" "CSS" "Coffin-Siris syndrome (CSS)" "" "" "" "" "" "00001" "2013-06-27 15:22:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00841" "EIEE" "encephalopathy, epileptic, early infantile (EIEE)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2015-02-20 16:58:56" "02412" "SPCH" "speech-language disorder (SPCH)" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-02-14 16:20:22" "04535" "ARTHS;MRD32" "Arboleda-Tham (ARTHS, previouslyMRD32)" "AD" "616268" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "KAT6A" "04535" ## Individuals ## Do not remove or alter this header ## ## Count = 18 "{{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}}" "00081075" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00245890" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00269873" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00275870" "" "" "" "1" "" "00006" "{PMID:Eising 2018:29463886}" "analysis 19 individuals with childhood apraxia of speech" "M" "" "" "" "0" "" "" "" "Pat10" "00276038" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00276043" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00300313" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00301267" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "Italy" "" "" "" "" "" "" "00308026" "" "" "" "1" "" "00006" "{PMID:Mahler 2019:31056085}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "no" "Germany" "" "0" "" "" "" "Pat5" "00383156" "" "" "" "1" "" "03458" "" "" "F" "no" "Italy" "" "" "" "" "" "Case #1" "00383157" "" "" "" "1" "" "03458" "Case #2" "" "F" "no" "Italy" "" "" "" "" "" "" "00390056" "" "" "" "1" "" "00006" "{PMID:Kritioti 2021:34324503}" "" "F" "" "Cyprus" "" "0" "" "" "Greece" "Pat3" "00408111" "" "" "" "1" "" "01164" "" "" "M" "?" "Germany" "" "0" "" "" "" "194485" "00434647" "" "" "" "1" "" "00006" "{PMID:Yi 2022:35536477}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00438653" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0348" "00448179" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat17" "00448515" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "286848" "00452749" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 18 "{{individualid}}" "{{diseaseid}}" "00081075" "04535" "00245890" "00198" "00269873" "00198" "00275870" "02412" "00276038" "00198" "00276043" "00198" "00300313" "00198" "00301267" "00841" "00308026" "00198" "00383156" "04535" "00383157" "04535" "00390056" "00198" "00408111" "04535" "00434647" "00156" "00438653" "06906" "00448179" "00198" "00448515" "04535" "00452749" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00156, 00198, 00841, 02412, 04535, 06906 ## Count = 15 "{{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/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060644" "04535" "00081075" "01758" "Isolated (sporadic)" "" "Mental retardation, autosomal dominant 32 (OMIM:616268)" "" "" "" "" "" "" "" "" "" "" "" "" "0000185726" "00198" "00245890" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Patent ductus arteriosus (HP:0001643); Hashimoto thyroiditis (HP:0000872); Dysmenorrhea (HP:0100607); Hypogonadism (HP:0000135); Growth hormone deficiency (HP:0000824); Short stature (HP:0004322); Hypercholesterolemia (HP:0003124); Osteoporosis (HP:0000939); Increased body weight (HP:0004324)" "" "" "" "" "" "" "" "" "" "" "" "" "0000207669" "00198" "00269873" "01807" "Unknown" "" "Specific learning disability (HP:0001328)" "" "" "" "" "" "" "" "" "" "" "" "" "0000210470" "02412" "00275870" "00006" "Unknown" "11y" "childhood apraxia of speech; late onset language use; listening comprehension scales standard scores <85; IQ average; oral expression scales standard scores <85; no gross or fine motor impairment; oral nonverbal motor impairment; dysarthria" "" "" "" "" "" "" "" "" "" "" "childhood apraxia of speech" "" "0000210594" "00198" "00276038" "01807" "Unknown" "" "Microcephaly (HP:0000252); Global developmental delay (HP:0001263); Hyperopic astigmatism (HP:0000484); Broad nasal tip (HP:0000455)" "" "" "" "" "" "" "" "" "" "" "" "" "0000210599" "00198" "00276043" "01807" "Unknown" "" "Intellectual disability, mild (HP:0001256); Expressive language delay (HP:0002474); Strabismus (HP:0000486); Brachycephaly (HP:0000248)" "" "" "" "" "" "" "" "" "" "" "" "" "0000227623" "00198" "00300313" "01807" "Unknown" "" "Intellectual disability (HP:0001249); Global developmental delay (HP:0001263); Plagiocephaly (HP:0001357); Cognitive impairment (HP:0100543)" "" "" "" "" "" "" "" "" "" "" "" "" "0000228537" "00841" "00301267" "03512" "Unknown" "" "" "" "" "" "" "" "yes" "" "" "" "" "" "" "0000233452" "00198" "00308026" "00006" "Isolated (sporadic)" "" "severe global developmental delay, short stature, dysmorphism" "" "" "" "" "" "" "" "" "" "MRD32" "developmental delay" "" "0000283595" "00198" "00390056" "00006" "Isolated (sporadic)" "7y" "global developmental delay, failure to thrive, static leukoencephalopathy, microcephaly, pinched nose, bifid first molar, unilateral blepharoptosis" "" "" "" "" "" "" "" "" "" "" "" "" "0000324897" "00156" "00434647" "00006" "Isolated (sporadic)" "28y" "see paper; ..., feeding difficulty, dysphagia, vomiting, hypotonia, delayed mental development" "" "" "" "" "" "" "" "" "" "CSS8" "Coffin-Siris syndrome" "" "0000328556" "06906" "00438653" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000337389" "00198" "00448179" "00006" "Isolated (sporadic)" "15y" "intellectual disability; autism spectrum disorder; microcephaly; strabismus; gastroesophageal reflux; limb anomalies" "" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000337692" "04535" "00448515" "01164" "Isolated (sporadic)" "02y" "Global developmental delay, Delayed speech and language development, Esodeviation" "" "" "" "" "" "" "" "" "" "" "" "" "0000341329" "00198" "00452749" "03544" "Isolated (sporadic)" "" "HP:0004322, HP:0001956, HP:0002342, HP:0000589, HP:0000786, HP:0012521, HP:0000957" "" "" "" "" "" "" "" "" "" "ARTHS, NSLL" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 18 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081187" "00081075" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000247002" "00245890" "1" "01807" "01807" "2019-07-11 09:47:56" "" "" "SEQ" "DNA" "" "" "0000271026" "00269873" "1" "01807" "01807" "2019-12-10 12:31:11" "" "" "SEQ" "DNA" "" "" "0000277024" "00275870" "1" "00006" "00006" "2020-01-19 13:09:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000277185" "00276038" "1" "01807" "01807" "2020-01-24 11:02:36" "" "" "SEQ" "DNA" "" "" "0000277190" "00276043" "1" "01807" "01807" "2020-01-24 11:02:46" "" "" "SEQ" "DNA" "" "" "0000301434" "00300313" "1" "01807" "01807" "2020-04-30 13:30:01" "" "" "SEQ" "DNA" "" "" "0000302391" "00301267" "1" "03512" "03512" "2020-05-11 21:00:06" "" "" "SEQ-NG-I" "DNA" "" "" "0000309170" "00308026" "1" "00006" "00006" "2020-08-25 19:47:51" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000384380" "00383156" "1" "03458" "03458" "2021-09-23 09:12:46" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000384381" "00383157" "1" "03458" "03458" "2021-09-23 09:31:22" "" "" "SEQ-NG-I" "DNA" "blood" "WES" "0000391297" "00390056" "1" "00006" "00006" "2021-11-09 16:34:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000409366" "00408111" "1" "01164" "01164" "2022-04-14 09:18:14" "" "" "SEQ-NG-I" "DNA" "Blood" "WES" "0000436119" "00434647" "1" "00006" "00006" "2023-04-06 11:15:23" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440135" "00438653" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000449754" "00448179" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000450095" "00448515" "1" "01164" "01164" "2024-03-20 12:50:35" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000454351" "00452749" "1" "03544" "03544" "2024-07-22 13:07:16" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000081187" "KAT6A" "0000309170" "KAT6A" "0000409366" "KAT6A" "0000450095" "KAT6A" ## 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 = 140 "{{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}}" "0000130273" "0" "70" "8" "41792086" "41792086" "del" "0" "01758" "KAT6A_000001" "g.41792086del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.41934568del" "" "likely pathogenic" "ACMG" "0000252428" "0" "70" "8" "41791085" "41791085" "subst" "0" "02326" "KAT6A_000002" "g.41791085A>C" "" "" "" "KAT6A(NM_006766.5):c.4653T>G (p.S1551R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41933567A>C" "" "likely pathogenic" "" "0000283478" "0" "90" "8" "41806844" "41806845" "del" "0" "02329" "KAT6A_000009" "g.41806844_41806845del" "" "" "" "KAT6A(NM_006766.5):c.1639_1640delAT (p.M547Efs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41949326_41949327del" "" "pathogenic" "" "0000332111" "0" "30" "8" "41791231" "41791231" "subst" "2.4375E-5" "01804" "KAT6A_000003" "g.41791231G>A" "" "" "" "KAT6A(NM_001099412.1):c.4507C>T (p.(Pro1503Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41933713G>A" "" "likely benign" "" "0000332112" "0" "30" "8" "41791936" "41791936" "subst" "9.35247E-5" "01804" "KAT6A_000004" "g.41791936G>A" "" "" "" "KAT6A(NM_001099412.1):c.3802C>T (p.(Pro1268Ser)), KAT6A(NM_006766.4):c.3802C>T (p.P1268S), KAT6A(NM_006766.5):c.3802C>T (p.P1268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41934418G>A" "" "likely benign" "" "0000332114" "0" "50" "8" "41839377" "41839377" "subst" "0" "01804" "KAT6A_000012" "g.41839377G>A" "" "" "" "KAT6A(NM_006766.3):c.805C>T (p.(Arg269Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41981859G>A" "" "VUS" "" "0000332115" "0" "50" "8" "41906301" "41906304" "del" "0" "01804" "KAT6A_000013" "g.41906301_41906304del" "" "" "" "KAT6A(NM_006766.3):c.195_198del (p.(Asn65LysfsTer15))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42048783_42048786del" "" "VUS" "" "0000338059" "0" "90" "8" "41804203" "41804203" "subst" "0" "02327" "KAT6A_000018" "g.41804203C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41946685C>T" "" "pathogenic" "" "0000345105" "0" "90" "8" "41791879" "41791880" "del" "0" "02327" "KAT6A_000015" "g.41791879_41791880del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41934361_41934362del" "" "pathogenic" "" "0000348743" "0" "50" "8" "41791073" "41791073" "subst" "0" "02327" "KAT6A_000014" "g.41791073G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41933555G>C" "" "VUS" "" "0000351184" "0" "70" "8" "41798963" "41798963" "subst" "0" "02327" "KAT6A_000017" "g.41798963C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41941445C>T" "" "likely pathogenic" "" "0000499842" "0" "70" "8" "41798963" "41798963" "subst" "0" "01807" "KAT6A_000017" "g.41798963C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41941445C>T" "" "likely pathogenic" "" "0000534793" "0" "30" "8" "41789998" "41789998" "subst" "0.000207155" "01943" "KAT6A_000019" "g.41789998T>C" "" "" "" "KAT6A(NM_006766.4):c.5740A>G (p.M1914V), KAT6A(NM_006766.5):c.5740A>G (p.(Met1914Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41932480T>C" "" "likely benign" "" "0000534794" "0" "70" "8" "41790121" "41790121" "subst" "0" "02329" "KAT6A_000020" "g.41790121G>A" "" "" "" "KAT6A(NM_006766.5):c.5617C>T (p.Q1873*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41932603G>A" "" "likely pathogenic" "" "0000534795" "0" "30" "8" "41790648" "41790648" "subst" "0" "01804" "KAT6A_000021" "g.41790648T>G" "" "" "" "KAT6A(NM_001099412.1):c.5090A>C (p.(Gln1697Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41933130T>G" "" "likely benign" "" "0000534797" "0" "30" "8" "41790758" "41790772" "dup" "0" "02325" "KAT6A_000023" "g.41790758_41790772dup" "" "" "" "KAT6A(NM_006766.4):c.4968_4982dupACAGCAGCCACAGCC (p.Q1657_P1661dup), KAT6A(NM_006766.5):c.4968_4982dupACAGCAGCCACAGCC (p.Q1657_P1661dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41933240_41933254dup" "" "likely benign" "" "0000534798" "0" "30" "8" "41790786" "41790786" "subst" "0.00122943" "02326" "KAT6A_000024" "g.41790786G>A" "" "" "" "KAT6A(NM_006766.4):c.4952C>T (p.P1651L), KAT6A(NM_006766.5):c.4952C>T (p.P1651L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41933268G>A" "" "likely benign" "" "0000534799" "0" "50" "8" "41790917" "41790917" "subst" "0" "01943" "KAT6A_000025" "g.41790917C>G" "" "" "" "KAT6A(NM_006766.4):c.4821G>C (p.Q1607H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41933399C>G" "" "VUS" "" "0000534800" "0" "70" "8" "41791074" "41791074" "subst" "0" "02327" "KAT6A_000026" "g.41791074C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41933556C>G" "" "likely pathogenic" "" "0000534801" "0" "70" "8" "41791093" "41791093" "subst" "0" "02327" "KAT6A_000027" "g.41791093C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41933575C>T" "" "likely pathogenic" "" "0000534803" "0" "90" "8" "41791707" "41791708" "del" "0" "02327" "KAT6A_000029" "g.41791707_41791708del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934189_41934190del" "" "pathogenic" "" "0000534804" "0" "30" "8" "41791793" "41791793" "subst" "8.56122E-5" "01943" "KAT6A_000030" "g.41791793G>A" "" "" "" "KAT6A(NM_006766.4):c.3945C>T (p.D1315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934275G>A" "" "likely benign" "" "0000534805" "0" "30" "8" "41791936" "41791936" "subst" "9.35247E-5" "01943" "KAT6A_000004" "g.41791936G>A" "" "" "" "KAT6A(NM_001099412.1):c.3802C>T (p.(Pro1268Ser)), KAT6A(NM_006766.4):c.3802C>T (p.P1268S), KAT6A(NM_006766.5):c.3802C>T (p.P1268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934418G>A" "" "likely benign" "" "0000534806" "0" "50" "8" "41791978" "41791978" "subst" "0" "01943" "KAT6A_000031" "g.41791978G>T" "" "" "" "KAT6A(NM_006766.4):c.3760C>A (p.P1254T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934460G>T" "" "VUS" "" "0000534807" "0" "30" "8" "41792130" "41792130" "subst" "4.06058E-6" "01804" "KAT6A_000032" "g.41792130T>C" "" "" "" "KAT6A(NM_006766.3):c.3608A>G (p.(Lys1203Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934612T>C" "" "likely benign" "" "0000534808" "0" "90" "8" "41792293" "41792293" "dup" "0" "02325" "KAT6A_000033" "g.41792293dup" "" "" "" "KAT6A(NM_006766.5):c.3449dupA (p.W1152Mfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934775dup" "" "pathogenic" "" "0000534809" "0" "90" "8" "41792353" "41792353" "subst" "0" "01943" "KAT6A_000034" "g.41792353G>A" "" "" "" "KAT6A(NM_006766.4):c.3385C>T (p.R1129*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934835G>A" "" "pathogenic" "" "0000534810" "0" "90" "8" "41792353" "41792353" "subst" "0" "02327" "KAT6A_000034" "g.41792353G>A" "" "" "" "KAT6A(NM_006766.4):c.3385C>T (p.R1129*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934835G>A" "" "pathogenic" "" "0000534811" "0" "90" "8" "41795056" "41795056" "subst" "0" "01804" "KAT6A_000035" "g.41795056G>A" "" "" "" "KAT6A(NM_001099412.1):c.3070C>T (p.(Arg1024Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41937538G>A" "" "pathogenic" "" "0000534812" "0" "90" "8" "41798415" "41798415" "dup" "0" "02329" "KAT6A_000036" "g.41798415dup" "" "" "" "KAT6A(NM_006766.5):c.2986dupA (p.S996Kfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41940897dup" "" "pathogenic" "" "0000534814" "0" "30" "8" "41798772" "41798772" "subst" "0.000223348" "01804" "KAT6A_000038" "g.41798772T>G" "" "" "" "KAT6A(NM_001099412.1):c.2627A>C (p.(Gln876Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41941254T>G" "" "likely benign" "" "0000534815" "0" "70" "8" "41800394" "41800394" "del" "0" "02327" "KAT6A_000039" "g.41800394del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41942876del" "" "likely pathogenic" "" "0000534816" "0" "90" "8" "41812841" "41812841" "del" "0" "01943" "KAT6A_000040" "g.41812841del" "" "" "" "KAT6A(NM_006766.4):c.1572delC (p.S525Pfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41955323del" "" "pathogenic" "" "0000534817" "0" "30" "8" "41832227" "41832227" "subst" "0.00229544" "01943" "KAT6A_000041" "g.41832227G>A" "" "" "" "KAT6A(NM_006766.4):c.1477C>T (p.L493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41974709G>A" "" "likely benign" "" "0000534818" "0" "30" "8" "41834547" "41834547" "subst" "0.000147849" "02326" "KAT6A_000010" "g.41834547T>C" "" "" "" "KAT6A(NM_006766.5):c.1342A>G (p.S448G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41977029T>C" "" "likely benign" "" "0000534819" "0" "50" "8" "41839398" "41839398" "subst" "0" "02327" "KAT6A_000042" "g.41839398A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41981880A>C" "" "VUS" "" "0000611615" "0" "30" "8" "41791589" "41791589" "subst" "8.12374E-5" "02326" "KAT6A_000044" "g.41791589G>A" "" "" "" "KAT6A(NM_006766.5):c.4149C>T (p.S1383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934071G>A" "" "likely benign" "" "0000611616" "0" "90" "8" "41791983" "41791983" "del" "0" "02327" "KAT6A_000045" "g.41791983del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41934465del" "" "pathogenic" "" "0000622063" "0" "50" "8" "41790698" "41790709" "del" "0" "01943" "KAT6A_000043" "g.41790698_41790709del" "" "" "" "KAT6A(NM_006766.4):c.5040_5051delACAGCAGCCGCA (p.Q1681_Q1684del), KAT6A(NM_006766.5):c.5040_5051delACAGCAGCCGCA (p.Q1681_Q1684del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41933180_41933191del" "" "VUS" "" "0000624872" "0" "90" "8" "41832234" "41832240" "del" "0" "01807" "KAT6A_000046" "g.41832234_41832240del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41974716_41974722del" "" "pathogenic" "" "0000631929" "0" "90" "8" "41791765" "41791765" "subst" "0" "01807" "KAT6A_000047" "g.41791765C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41934247C>A" "" "pathogenic" "" "0000631934" "0" "90" "8" "41836254" "41836254" "subst" "0" "01807" "KAT6A_000011" "g.41836254G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41978736G>A" "" "pathogenic" "" "0000631976" "0" "90" "8" "41806860" "41806938" "del" "0" "00006" "KAT6A_000048" "g.41806860_41806938del" "" "{PMID:Eising 2018:29463886}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.41949342_41949420del" "" "pathogenic" "" "0000656093" "0" "50" "8" "41789821" "41789821" "subst" "0" "01943" "KAT6A_000049" "g.41789821G>A" "" "" "" "KAT6A(NM_006766.4):c.5917C>T (p.H1973Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41932303G>A" "" "VUS" "" "0000656094" "0" "70" "8" "41790361" "41790361" "subst" "0" "02329" "KAT6A_000050" "g.41790361G>A" "" "" "" "KAT6A(NM_006766.5):c.5377C>T (p.Q1793*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41932843G>A" "" "likely pathogenic" "" "0000656095" "0" "90" "8" "41795071" "41795071" "subst" "0" "01804" "KAT6A_000051" "g.41795071G>A" "" "" "" "KAT6A(NM_006766.3):c.3055C>T (p.(Arg1019*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41937553G>A" "" "pathogenic" "" "0000656096" "0" "90" "8" "41798919" "41798919" "dup" "0" "02327" "KAT6A_000052" "g.41798919dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41941401dup" "" "pathogenic" "" "0000656097" "0" "70" "8" "41800389" "41800389" "del" "0" "01804" "KAT6A_000053" "g.41800389del" "" "" "" "KAT6A(NM_006766.3):c.2358del (p.(Ser787Glnfs*23))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41942871del" "" "likely pathogenic" "" "0000664370" "0" "50" "8" "41791089" "41791089" "subst" "0" "01807" "KAT6A_000054" "g.41791089A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.41933571A>G" "" "likely pathogenic" "" "0000665624" "0" "50" "8" "41790114" "41790114" "subst" "0" "03512" "KAT6A_000055" "g.41790114T>C" "" "{PMID:Minardi 2020:32725632}" "" "" "mother wt" "Germline" "" "" "0" "" "" "g.41932596T>C" "" "VUS" "" "0000665625" "0" "50" "8" "41790114" "41790114" "subst" "0" "03512" "KAT6A_000055" "g.41790114T>C" "" "{PMID:Minardi 2020:32725632}" "" "" "mother wt" "Germline" "" "" "" "" "" "g.41932596T>C" "" "VUS" "" "0000683670" "0" "90" "8" "41834793" "41834793" "subst" "0" "00006" "KAT6A_000057" "g.41834793G>A" "" "{PMID:Mahler 2019:31056085}" "" "1096G>A" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000690266" "0" "90" "8" "41836272" "41836272" "subst" "0" "02327" "KAT6A_000058" "g.41836272G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690267" "0" "30" "8" "41839376" "41839376" "subst" "4.06785E-5" "02325" "KAT6A_000059" "g.41839376C>T" "" "" "" "KAT6A(NM_006766.5):c.806G>A (p.R269Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721983" "0" "30" "8" "41790770" "41790793" "del" "0" "02325" "KAT6A_000060" "g.41790770_41790793del" "" "" "" "KAT6A(NM_006766.5):c.4953_4976delGCCACCACCGCCTCCACAGCAGCC (p.P1652_P1659del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721984" "0" "90" "8" "41798491" "41798491" "dup" "0" "02329" "KAT6A_000037" "g.41798491dup" "" "" "" "KAT6A(NM_006766.5):c.2911dupC (p.R971Pfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721985" "0" "30" "8" "41834751" "41834751" "subst" "0.000276418" "01943" "KAT6A_000061" "g.41834751C>A" "" "" "" "KAT6A(NM_006766.4):c.1138G>T (p.E380*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721986" "0" "90" "8" "41836254" "41836254" "subst" "0" "02329" "KAT6A_000011" "g.41836254G>A" "" "" "" "KAT6A(NM_006766.5):c.949C>T (p.R317*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000721987" "0" "30" "8" "41905976" "41905976" "subst" "1.62442E-5" "01943" "KAT6A_000062" "g.41905976T>C" "" "" "" "KAT6A(NM_006766.4):c.520A>G (p.T174A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803642" "0" "50" "8" "41791126" "41791126" "subst" "4.06144E-6" "02325" "KAT6A_000063" "g.41791126C>T" "" "" "" "KAT6A(NM_006766.5):c.4612G>A (p.V1538I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803643" "0" "50" "8" "41791408" "41791408" "subst" "0" "01804" "KAT6A_000064" "g.41791408G>C" "" "" "" "KAT6A(NM_006766.3):c.4330C>G (p.(Gln1444Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803644" "0" "30" "8" "41791936" "41791936" "subst" "9.35247E-5" "02325" "KAT6A_000004" "g.41791936G>A" "" "" "" "KAT6A(NM_001099412.1):c.3802C>T (p.(Pro1268Ser)), KAT6A(NM_006766.4):c.3802C>T (p.P1268S), KAT6A(NM_006766.5):c.3802C>T (p.P1268S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803645" "0" "90" "8" "41798485" "41798485" "dup" "0" "01943" "KAT6A_000065" "g.41798485dup" "" "" "" "KAT6A(NM_006766.4):c.2914dupC (p.R972Pfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803646" "0" "30" "8" "41798918" "41798918" "subst" "2.08149E-5" "01943" "KAT6A_000066" "g.41798918A>G" "" "" "" "KAT6A(NM_006766.4):c.2481T>C (p.Y827=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803647" "0" "90" "8" "41800454" "41800454" "subst" "0" "02327" "KAT6A_000067" "g.41800454G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803648" "0" "90" "8" "41836263" "41836263" "del" "0" "02327" "KAT6A_000068" "g.41836263del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000811001" "0" "90" "8" "41791093" "41791093" "subst" "0" "03458" "KAT6A_000027" "g.41791093C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "g.41933575C>T" "VCV000419627.2" "likely pathogenic" "ACMG" "0000811002" "0" "90" "8" "41791894" "41791894" "subst" "0" "03458" "KAT6A_000069" "g.41791894C>A" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000821035" "0" "90" "8" "41798359" "41798359" "subst" "0" "00006" "KAT6A_000070" "g.41798359C>T" "" "{PMID:Kritioti 2021:34324503}" "" "" "ACMG PVS1, PS2, PM2, PP3, PP4" "De novo" "" "" "0" "" "" "g.41940841C>T" "" "pathogenic (dominant)" "ACMG" "0000846522" "0" "70" "8" "41836165" "41836166" "del" "0" "01164" "KAT6A_000071" "g.41836165_41836166del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "" "" "0" "" "" "g.41978647_41978648del" "" "likely pathogenic (dominant)" "ACMG" "0000851924" "0" "50" "8" "41790043" "41790043" "subst" "1.62558E-5" "02325" "KAT6A_000072" "g.41790043T>C" "" "" "" "KAT6A(NM_006766.5):c.5695A>G (p.M1899V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851925" "0" "30" "8" "41791234" "41791234" "subst" "6.09305E-5" "02325" "KAT6A_000074" "g.41791234C>T" "" "" "" "KAT6A(NM_006766.5):c.4504G>A (p.V1502M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861212" "0" "50" "8" "41790758" "41790772" "dup" "0" "01943" "KAT6A_000023" "g.41790758_41790772dup" "" "" "" "KAT6A(NM_006766.4):c.4968_4982dupACAGCAGCCACAGCC (p.Q1657_P1661dup), KAT6A(NM_006766.5):c.4968_4982dupACAGCAGCCACAGCC (p.Q1657_P1661dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861213" "0" "30" "8" "41790782" "41790782" "subst" "0.000516793" "01943" "KAT6A_000073" "g.41790782T>C" "" "" "" "KAT6A(NM_006766.4):c.4956A>G (p.P1652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861214" "0" "30" "8" "41790786" "41790786" "subst" "0.00122943" "01943" "KAT6A_000024" "g.41790786G>A" "" "" "" "KAT6A(NM_006766.4):c.4952C>T (p.P1651L), KAT6A(NM_006766.5):c.4952C>T (p.P1651L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861215" "0" "90" "8" "41845024" "41845024" "subst" "0" "02327" "KAT6A_000075" "g.41845024G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888349" "0" "50" "8" "41789836" "41789836" "subst" "1.21895E-5" "02325" "KAT6A_000076" "g.41789836T>C" "" "" "" "KAT6A(NM_006766.5):c.5902A>G (p.M1968V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888350" "0" "50" "8" "41790039" "41790039" "subst" "0" "02329" "KAT6A_000077" "g.41790039C>A" "" "" "" "KAT6A(NM_006766.5):c.5699G>T (p.G1900V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888351" "0" "90" "8" "41794987" "41794987" "subst" "0" "02327" "KAT6A_000078" "g.41794987C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888352" "0" "50" "8" "41804141" "41804141" "subst" "0" "02325" "KAT6A_000079" "g.41804141C>T" "" "" "" "KAT6A(NM_006766.5):c.1964G>A (p.R655H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888353" "0" "50" "8" "41834618" "41834618" "subst" "4.06372E-6" "02325" "KAT6A_000080" "g.41834618C>T" "" "" "" "KAT6A(NM_006766.5):c.1271G>A (p.R424Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888354" "0" "50" "8" "41906054" "41906054" "subst" "0" "02326" "KAT6A_000081" "g.41906054G>A" "" "" "" "KAT6A(NM_006766.5):c.442C>T (p.R148*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888355" "0" "70" "8" "41906495" "41906495" "subst" "0" "02327" "KAT6A_000082" "g.41906495T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000912953" "0" "30" "8" "41791876" "41791876" "subst" "0.000102468" "02325" "KAT6A_000083" "g.41791876C>T" "" "" "" "KAT6A(NM_006766.5):c.3862G>A (p.E1288K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000922464" "21" "50" "8" "41905985" "41905985" "subst" "0" "00006" "KAT6A_000084" "g.41905985T>G" "" "{PMID:Yi 2022:35536477}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000924874" "0" "90" "8" "41791609" "41791609" "subst" "0" "02329" "KAT6A_000085" "g.41791609G>A" "" "" "" "KAT6A(NM_006766.5):c.4129C>T (p.Q1377*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929446" "0" "30" "8" "41798355" "41798355" "subst" "2.51646E-5" "02325" "KAT6A_000086" "g.41798355G>C" "" "" "" "KAT6A(NM_006766.5):c.3039+5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929447" "0" "90" "8" "41834756" "41834756" "subst" "0" "02325" "KAT6A_000087" "g.41834756G>C" "" "" "" "KAT6A(NM_006766.5):c.1133C>G (p.S378*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000931665" "0" "90" "8" "41834793" "41834793" "subst" "0" "03779" "KAT6A_000057" "g.41834793G>A" "" "" "" "" "" "Unknown" "" "rs1564034820" "0" "" "" "" "" "pathogenic" "" "0000936293" "0" "50" "8" "41790224" "41790224" "subst" "0" "00006" "KAT6A_000088" "g.41790224G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_006766:c.C5514T (G1838G)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000949076" "0" "30" "8" "41790797" "41790799" "dup" "0" "02325" "KAT6A_000089" "g.41790797_41790799dup" "" "" "" "KAT6A(NM_006766.5):c.4949_4951dupAGC (p.Q1650dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949077" "0" "90" "8" "41798365" "41798365" "subst" "0" "02327" "KAT6A_000090" "g.41798365G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000960237" "0" "90" "8" "41792353" "41792353" "subst" "0" "00006" "KAT6A_000034" "g.41792353G>A" "" "{PMID:Poli 2024:38177409}" "" "" "" "De novo" "" "" "0" "" "" "g.41934835G>A" "180229" "pathogenic (dominant)" "" "0000972030" "0" "70" "8" "41791452" "41791453" "ins" "0" "01164" "KAT6A_000093" "g.41791452_41791453insCACT" "" "" "" "" "ACMG: PVS1_STR, PS2_MOD, PM2_SUP" "De novo" "-" "" "0" "" "" "g.41933934_41933935insCACT" "" "likely pathogenic (dominant)" "ACMG" "0000978204" "0" "30" "8" "41789998" "41789998" "subst" "0.000207155" "01804" "KAT6A_000019" "g.41789998T>C" "" "" "" "KAT6A(NM_006766.4):c.5740A>G (p.M1914V), KAT6A(NM_006766.5):c.5740A>G (p.(Met1914Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978205" "0" "30" "8" "41790055" "41790055" "subst" "3.65928E-5" "01804" "KAT6A_000094" "g.41790055G>A" "" "" "" "KAT6A(NM_006766.5):c.5683C>T (p.(Arg1895Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978206" "0" "30" "8" "41790244" "41790244" "subst" "7.7153E-5" "01804" "KAT6A_000095" "g.41790244T>C" "" "" "" "KAT6A(NM_006766.5):c.5494A>G (p.(Met1832Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978207" "0" "50" "8" "41790891" "41790908" "del" "0" "01804" "KAT6A_000096" "g.41790891_41790908del" "" "" "" "KAT6A(NM_006766.5):c.4837_4854del (p.(Gly1613_Met1618del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978208" "0" "30" "8" "41791770" "41791770" "subst" "1.22021E-5" "01804" "KAT6A_000097" "g.41791770T>C" "" "" "" "KAT6A(NM_006766.3):c.3968A>G (p.(His1323Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978209" "0" "30" "8" "41791883" "41791900" "del" "0" "01804" "KAT6A_000098" "g.41791883_41791900del" "" "" "" "KAT6A(NM_006766.5):c.3847_3864del (p.(Gln1283_Glu1288del)), KAT6A(NM_006766.5):c.3847_3864delCAGAGGCAGTCAGAGGAG (p.Q1283_E1288del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978210" "0" "50" "8" "41792095" "41792097" "del" "0" "01804" "KAT6A_000099" "g.41792095_41792097del" "" "" "" "KAT6A(NM_006766.5):c.3645_3647del (p.(Glu1215del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978211" "0" "50" "8" "41798485" "41798485" "subst" "4.06161E-6" "01804" "KAT6A_000100" "g.41798485G>A" "" "" "" "KAT6A(NM_006766.5):c.2914C>T (p.(Arg972Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978212" "0" "30" "8" "41804362" "41804362" "subst" "0" "01804" "KAT6A_000101" "g.41804362A>G" "" "" "" "KAT6A(NM_006766.5):c.1903-160T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978213" "0" "90" "8" "41812906" "41812906" "del" "0" "02329" "KAT6A_000102" "g.41812906del" "" "" "" "KAT6A(NM_006766.5):c.1506delT (p.D503Ifs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000978214" "0" "70" "8" "41834820" "41834820" "subst" "0" "01804" "KAT6A_000103" "g.41834820G>A" "" "" "" "KAT6A(NM_006766.5):c.1069C>T (p.(Arg357*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000989152" "0" "70" "8" "41839417" "41839417" "dup" "0" "03544" "KAT6A_000104" "g.41839417dup" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.41981899dup" "" "likely pathogenic" "ACMG" "0000997172" "0" "30" "8" "41789769" "41789769" "subst" "0" "01804" "KAT6A_000105" "g.41789769G>A" "" "" "" "KAT6A(NM_006766.3):c.5969C>T (p.(Ala1990Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997173" "0" "30" "8" "41789859" "41789859" "subst" "4.0627E-6" "01804" "KAT6A_000106" "g.41789859C>T" "" "" "" "KAT6A(NM_006766.3):c.5879G>A (p.(Ser1960Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997174" "0" "30" "8" "41790003" "41790003" "subst" "1.62468E-5" "01804" "KAT6A_000107" "g.41790003T>C" "" "" "" "KAT6A(NM_006766.3):c.5735A>G (p.(Asn1912Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997175" "0" "30" "8" "41790636" "41790636" "subst" "4.92918E-5" "01804" "KAT6A_000108" "g.41790636G>A" "" "" "" "KAT6A(NM_006766.3):c.5102C>T (p.(Pro1701Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997176" "0" "30" "8" "41790698" "41790709" "dup" "0" "01804" "KAT6A_000109" "g.41790698_41790709dup" "" "" "" "KAT6A(NM_006766.3):c.5039_5040insACAGCAGCCGCA (p.(Gln1680_Gln1681insGlnGlnProGln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997177" "0" "50" "8" "41790764" "41790772" "dup" "0" "01804" "KAT6A_000110" "g.41790764_41790772dup" "" "" "" "KAT6A(NM_006766.3):c.4973_4981dupAGCCACAGC (p.(Gln1658_Gln1660dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997178" "0" "30" "8" "41790868" "41790868" "subst" "2.6907E-5" "01804" "KAT6A_000111" "g.41790868C>T" "" "" "" "KAT6A(NM_006766.3):c.4870G>A (p.(Val1624Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997179" "0" "30" "8" "41790937" "41790937" "subst" "1.22869E-5" "01804" "KAT6A_000112" "g.41790937T>C" "" "" "" "KAT6A(NM_006766.3):c.4801A>G (p.(Ser1601Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997180" "0" "70" "8" "41791512" "41791512" "subst" "0" "01804" "KAT6A_000113" "g.41791512A>C" "" "" "" "KAT6A(NM_006766.3):c.4226T>G (p.(Leu1409*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997181" "0" "70" "8" "41791904" "41791904" "dup" "0" "01804" "KAT6A_000114" "g.41791904dup" "" "" "" "KAT6A(NM_006766.3):c.3834dupT (p.(Val1279fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997182" "0" "50" "8" "41792235" "41792235" "subst" "0" "01804" "KAT6A_000115" "g.41792235C>T" "" "" "" "KAT6A(NM_006766.3):c.3503G>A (p.(Gly1168Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997183" "0" "30" "8" "41794954" "41794954" "subst" "0" "01804" "KAT6A_000116" "g.41794954T>A" "" "" "" "KAT6A(NM_006766.3):c.3172A>T (p.(Met1058Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997184" "0" "30" "8" "41798484" "41798484" "subst" "2.84306E-5" "01804" "KAT6A_000117" "g.41798484C>T" "" "" "" "KAT6A(NM_006766.3):c.2915G>A (p.(Arg972His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997185" "0" "30" "8" "41798529" "41798529" "subst" "4.06134E-6" "01804" "KAT6A_000118" "g.41798529G>A" "" "" "" "KAT6A(NM_006766.3):c.2870C>T (p.(Ala957Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997186" "0" "30" "8" "41798613" "41798613" "subst" "8.12367E-6" "01804" "KAT6A_000119" "g.41798613T>G" "" "" "" "KAT6A(NM_006766.3):c.2786A>C (p.(Gln929Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997187" "0" "30" "8" "41798767" "41798767" "subst" "1.2183E-5" "01804" "KAT6A_000120" "g.41798767G>A" "" "" "" "KAT6A(NM_006766.3):c.2632C>T (p.(Arg878Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997188" "0" "30" "8" "41801365" "41801365" "subst" "0" "01804" "KAT6A_000121" "g.41801365T>C" "" "" "" "KAT6A(NM_006766.3):c.2129A>G (p.(Gln710Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997189" "0" "50" "8" "41805295" "41805295" "subst" "0" "01804" "KAT6A_000122" "g.41805295A>T" "" "" "" "KAT6A(NM_006766.3):c.1876T>A (p.(Cys626Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997190" "0" "50" "8" "41812811" "41812811" "subst" "0" "02327" "KAT6A_000123" "g.41812811T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997191" "0" "30" "8" "41832259" "41832259" "subst" "0.00137783" "01804" "KAT6A_000124" "g.41832259A>T" "" "" "" "KAT6A(NM_006766.3):c.1445T>A (p.(Met482Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997192" "0" "50" "8" "41834771" "41834771" "subst" "1.62606E-5" "01804" "KAT6A_000125" "g.41834771T>C" "" "" "" "KAT6A(NM_006766.3):c.1118A>G (p.(Gln373Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014445" "0" "30" "8" "41790698" "41790709" "del" "0" "02325" "KAT6A_000043" "g.41790698_41790709del" "" "" "" "KAT6A(NM_006766.4):c.5040_5051delACAGCAGCCGCA (p.Q1681_Q1684del), KAT6A(NM_006766.5):c.5040_5051delACAGCAGCCGCA (p.Q1681_Q1684del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014446" "0" "50" "8" "41806786" "41806786" "subst" "0" "02329" "KAT6A_000126" "g.41806786G>A" "" "" "" "KAT6A(NM_006766.5):c.1694C>T (p.P565L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025519" "0" "50" "8" "41791883" "41791900" "del" "0" "02325" "KAT6A_000098" "g.41791883_41791900del" "" "" "" "KAT6A(NM_006766.5):c.3847_3864del (p.(Gln1283_Glu1288del)), KAT6A(NM_006766.5):c.3847_3864delCAGAGGCAGTCAGAGGAG (p.Q1283_E1288del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025520" "0" "50" "8" "41798899" "41798899" "subst" "0" "02327" "KAT6A_000127" "g.41798899T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025521" "0" "30" "8" "41834732" "41834732" "subst" "0.000243807" "02325" "KAT6A_000128" "g.41834732C>T" "" "" "" "KAT6A(NM_006766.5):c.1157G>A (p.R386Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036966" "0" "50" "8" "41790408" "41790408" "subst" "4.06062E-6" "01804" "KAT6A_000129" "g.41790408A>G" "" "" "" "KAT6A(NM_006766.5):c.5330T>C (p.(Val1777Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036967" "0" "50" "8" "41792164" "41792164" "subst" "0" "01804" "KAT6A_000130" "g.41792164T>C" "" "" "" "KAT6A(NM_006766.5):c.3574A>G (p.(Ile1192Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036968" "0" "30" "8" "41794799" "41794799" "subst" "8.1369E-6" "01804" "KAT6A_000131" "g.41794799T>A" "" "" "" "KAT6A(NM_006766.5):c.3327A>T (p.(Glu1109Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036969" "0" "50" "8" "41798401" "41798401" "subst" "0" "01804" "KAT6A_000132" "g.41798401T>A" "" "" "" "KAT6A(NM_006766.5):c.2998A>T (p.(Ser1000Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036970" "0" "50" "8" "41798647" "41798647" "subst" "4.0619E-6" "01804" "KAT6A_000133" "g.41798647C>G" "" "" "" "KAT6A(NM_006766.5):c.2752G>C (p.(Glu918Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036971" "0" "70" "8" "41832341" "41832341" "subst" "0" "01804" "KAT6A_000134" "g.41832341C>A" "" "" "" "KAT6A(NM_006766.5):c.1364-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001036972" "0" "70" "8" "41832342" "41832342" "subst" "0" "01804" "KAT6A_000135" "g.41832342T>A" "" "" "" "KAT6A(NM_006766.5):c.1364-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001046163" "0" "50" "8" "41798432" "41798434" "del" "0" "02325" "KAT6A_000136" "g.41798432_41798434del" "" "" "" "KAT6A(NM_006766.5):c.2977_2979delGAG (p.E993del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes KAT6A ## Count = 140 "{{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}}" "0000130273" "00010304" "70" "3655" "0" "3655" "0" "c.3655del" "r.(?)" "p.(Leu1219Tyrfs*75)" "" "0000252428" "00010304" "70" "4653" "0" "4653" "0" "c.4653T>G" "r.(?)" "p.(Ser1551Arg)" "" "0000283478" "00010304" "90" "1639" "0" "1640" "0" "c.1639_1640del" "r.(?)" "p.(Met547GlufsTer3)" "" "0000332111" "00010304" "30" "4507" "0" "4507" "0" "c.4507C>T" "r.(?)" "p.(Pro1503Ser)" "" "0000332112" "00010304" "30" "3802" "0" "3802" "0" "c.3802C>T" "r.(?)" "p.(Pro1268Ser)" "" "0000332114" "00010304" "50" "805" "0" "805" "0" "c.805C>T" "r.(?)" "p.(Arg269Ter)" "" "0000332115" "00010304" "50" "195" "0" "198" "0" "c.195_198del" "r.(?)" "p.(Asn65LysfsTer15)" "" "0000338059" "00010304" "90" "1903" "-1" "1903" "-1" "c.1903-1G>A" "r.spl?" "p.?" "" "0000345105" "00010304" "90" "3860" "0" "3861" "0" "c.3860_3861del" "r.(?)" "p.(Glu1287GlyfsTer25)" "" "0000348743" "00010304" "50" "4665" "0" "4665" "0" "c.4665C>G" "r.(?)" "p.(Ser1555Arg)" "" "0000351184" "00010304" "70" "2437" "-1" "2437" "-1" "c.2437-1G>A" "r.spl?" "p.?" "" "0000499842" "00010304" "70" "2437" "-1" "2437" "-1" "c.2437-1G>A" "r.spl" "p.?" "" "0000534793" "00010304" "30" "5740" "0" "5740" "0" "c.5740A>G" "r.(?)" "p.(Met1914Val)" "" "0000534794" "00010304" "70" "5617" "0" "5617" "0" "c.5617C>T" "r.(?)" "p.(Gln1873Ter)" "" "0000534795" "00010304" "30" "5090" "0" "5090" "0" "c.5090A>C" "r.(?)" "p.(Gln1697Pro)" "" "0000534797" "00010304" "30" "4968" "0" "4982" "0" "c.4968_4982dup" "r.(?)" "p.(Gln1657_Pro1661dup)" "" "0000534798" "00010304" "30" "4952" "0" "4952" "0" "c.4952C>T" "r.(?)" "p.(Pro1651Leu)" "" "0000534799" "00010304" "50" "4821" "0" "4821" "0" "c.4821G>C" "r.(?)" "p.(Gln1607His)" "" "0000534800" "00010304" "70" "4664" "0" "4664" "0" "c.4664G>C" "r.(?)" "p.(Ser1555Thr)" "" "0000534801" "00010304" "70" "4645" "0" "4645" "0" "c.4645G>A" "r.(?)" "p.(Gly1549Ser)" "" "0000534803" "00010304" "90" "4031" "0" "4032" "0" "c.4031_4032del" "r.(?)" "p.(Glu1344AlafsTer11)" "" "0000534804" "00010304" "30" "3945" "0" "3945" "0" "c.3945C>T" "r.(?)" "p.(Asp1315=)" "" "0000534805" "00010304" "30" "3802" "0" "3802" "0" "c.3802C>T" "r.(?)" "p.(Pro1268Ser)" "" "0000534806" "00010304" "50" "3760" "0" "3760" "0" "c.3760C>A" "r.(?)" "p.(Pro1254Thr)" "" "0000534807" "00010304" "30" "3608" "0" "3608" "0" "c.3608A>G" "r.(?)" "p.(Lys1203Arg)" "" "0000534808" "00010304" "90" "3449" "0" "3449" "0" "c.3449dup" "r.(?)" "p.(Trp1152MetfsTer23)" "" "0000534809" "00010304" "90" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Ter)" "" "0000534810" "00010304" "90" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Ter)" "" "0000534811" "00010304" "90" "3070" "0" "3070" "0" "c.3070C>T" "r.(?)" "p.(Arg1024Ter)" "" "0000534812" "00010304" "90" "2986" "0" "2986" "0" "c.2986dup" "r.(?)" "p.(Ser996LysfsTer36)" "" "0000534814" "00010304" "30" "2627" "0" "2627" "0" "c.2627A>C" "r.(?)" "p.(Gln876Pro)" "" "0000534815" "00010304" "70" "2353" "0" "2353" "0" "c.2353del" "r.(?)" "p.(Val785TrpfsTer25)" "" "0000534816" "00010304" "90" "1572" "0" "1572" "0" "c.1572del" "r.(?)" "p.(Ser525ProfsTer20)" "" "0000534817" "00010304" "30" "1477" "0" "1477" "0" "c.1477C>T" "r.(?)" "p.(Leu493=)" "" "0000534818" "00010304" "30" "1342" "0" "1342" "0" "c.1342A>G" "r.(?)" "p.(Ser448Gly)" "" "0000534819" "00010304" "50" "784" "0" "784" "0" "c.784T>G" "r.(?)" "p.(Cys262Gly)" "" "0000611615" "00010304" "30" "4149" "0" "4149" "0" "c.4149C>T" "r.(?)" "p.(Ser1383=)" "" "0000611616" "00010304" "90" "3756" "0" "3756" "0" "c.3756del" "r.(?)" "p.(Ser1253LeufsTer41)" "" "0000622063" "00010304" "50" "5040" "0" "5051" "0" "c.5040_5051del" "r.(?)" "p.(Gln1681_Gln1684del)" "" "0000624872" "00010304" "90" "1465" "0" "1471" "0" "c.1465_1471del" "r.(?)" "p.(Gln489LysfsTer8)" "" "0000631929" "00010304" "90" "3973" "0" "3973" "0" "c.3973G>T" "r.(?)" "p.(Glu1325*)" "" "0000631934" "00010304" "90" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317*)" "" "0000631976" "00010304" "90" "1599" "-56" "1621" "0" "c.1599-56_1621del" "r.spl" "p.?" "" "0000656093" "00010304" "50" "5917" "0" "5917" "0" "c.5917C>T" "r.(?)" "p.(His1973Tyr)" "" "0000656094" "00010304" "70" "5377" "0" "5377" "0" "c.5377C>T" "r.(?)" "p.(Gln1793Ter)" "" "0000656095" "00010304" "90" "3055" "0" "3055" "0" "c.3055C>T" "r.(?)" "p.(Arg1019Ter)" "" "0000656096" "00010304" "90" "2480" "0" "2480" "0" "c.2480dup" "r.(?)" "p.(Tyr827Ter)" "" "0000656097" "00010304" "70" "2358" "0" "2358" "0" "c.2358del" "r.(?)" "p.(Ser787GlnfsTer23)" "" "0000664370" "00010304" "50" "4649" "0" "4649" "0" "c.4649T>C" "r.(?)" "p.(Phe1550Ser)" "" "0000665624" "00010304" "50" "5624" "0" "5624" "0" "c.5624A>G" "r.(?)" "p.(Tyr1875Cys)" "" "0000665625" "00010304" "50" "5624" "0" "5624" "0" "c.5624A>G" "r.(?)" "p.Tyr1875Cys" "" "0000683670" "00010304" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366*)" "" "0000690266" "00010304" "90" "931" "0" "931" "0" "c.931C>T" "r.(?)" "p.(Arg311Ter)" "" "0000690267" "00010304" "30" "806" "0" "806" "0" "c.806G>A" "r.(?)" "p.(Arg269Gln)" "" "0000721983" "00010304" "30" "4953" "0" "4976" "0" "c.4953_4976del" "r.(?)" "p.(Pro1652_Pro1659del)" "" "0000721984" "00010304" "90" "2911" "0" "2911" "0" "c.2911dup" "r.(?)" "p.(Arg971ProfsTer5)" "" "0000721985" "00010304" "30" "1138" "0" "1138" "0" "c.1138G>T" "r.(?)" "p.(Glu380*)" "" "0000721986" "00010304" "90" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317Ter)" "" "0000721987" "00010304" "30" "520" "0" "520" "0" "c.520A>G" "r.(?)" "p.(Thr174Ala)" "" "0000803642" "00010304" "50" "4612" "0" "4612" "0" "c.4612G>A" "r.(?)" "p.(Val1538Ile)" "" "0000803643" "00010304" "50" "4330" "0" "4330" "0" "c.4330C>G" "r.(?)" "p.(Gln1444Glu)" "" "0000803644" "00010304" "30" "3802" "0" "3802" "0" "c.3802C>T" "r.(?)" "p.(Pro1268Ser)" "" "0000803645" "00010304" "90" "2914" "0" "2914" "0" "c.2914dup" "r.(?)" "p.(Arg972Profs*4)" "" "0000803646" "00010304" "30" "2481" "0" "2481" "0" "c.2481T>C" "r.(?)" "p.(Tyr827=)" "" "0000803647" "00010304" "90" "2293" "0" "2293" "0" "c.2293C>T" "r.(?)" "p.(Arg765*)" "" "0000803648" "00010304" "90" "945" "0" "945" "0" "c.945del" "r.(?)" "p.(Gly316Aspfs*12)" "" "0000811001" "00010304" "90" "4645" "0" "4645" "0" "c.4645G>A" "r.(?)" "p.(Gly1549Ser)" "17" "0000811002" "00010304" "90" "3844" "0" "3844" "0" "c.3844G>T" "r.(?)" "p.(Glu1282*)" "17" "0000821035" "00010304" "90" "3039" "1" "3039" "1" "c.3039+1G>A" "r.3039_3040ins[a;3039+2_3039+19]" "p.Lys1014Ilefs*24" "15i" "0000846522" "00010304" "70" "1039" "0" "1040" "0" "c.1039_1040del" "r.(?)" "p.(Thr347Glyfs*17)" "" "0000851924" "00010304" "50" "5695" "0" "5695" "0" "c.5695A>G" "r.(?)" "p.(Met1899Val)" "" "0000851925" "00010304" "30" "4504" "0" "4504" "0" "c.4504G>A" "r.(?)" "p.(Val1502Met)" "" "0000861212" "00010304" "50" "4968" "0" "4982" "0" "c.4968_4982dup" "r.(?)" "p.(Gln1657_Pro1661dup)" "" "0000861213" "00010304" "30" "4956" "0" "4956" "0" "c.4956A>G" "r.(?)" "p.(Pro1652=)" "" "0000861214" "00010304" "30" "4952" "0" "4952" "0" "c.4952C>T" "r.(?)" "p.(Pro1651Leu)" "" "0000861215" "00010304" "90" "658" "0" "658" "0" "c.658C>T" "r.(?)" "p.(Arg220*)" "" "0000888349" "00010304" "50" "5902" "0" "5902" "0" "c.5902A>G" "r.(?)" "p.(Met1968Val)" "" "0000888350" "00010304" "50" "5699" "0" "5699" "0" "c.5699G>T" "r.(?)" "p.(Gly1900Val)" "" "0000888351" "00010304" "90" "3139" "0" "3139" "0" "c.3139G>T" "r.(?)" "p.(Glu1047*)" "" "0000888352" "00010304" "50" "1964" "0" "1964" "0" "c.1964G>A" "r.(?)" "p.(Arg655His)" "" "0000888353" "00010304" "50" "1271" "0" "1271" "0" "c.1271G>A" "r.(?)" "p.(Arg424Gln)" "" "0000888354" "00010304" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148*)" "" "0000888355" "00010304" "70" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000912953" "00010304" "30" "3862" "0" "3862" "0" "c.3862G>A" "r.(?)" "p.(Glu1288Lys)" "" "0000922464" "00010304" "50" "511" "0" "511" "0" "c.511A>C" "r.(?)" "p.(Thr171Pro)" "" "0000924874" "00010304" "90" "4129" "0" "4129" "0" "c.4129C>T" "r.(?)" "p.(Gln1377*)" "" "0000929446" "00010304" "30" "3039" "5" "3039" "5" "c.3039+5C>G" "r.spl?" "p.?" "" "0000929447" "00010304" "90" "1133" "0" "1133" "0" "c.1133C>G" "r.(?)" "p.(Ser378*)" "" "0000931665" "00010304" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Arg366Ter)" "" "0000936293" "00010304" "50" "5514" "0" "5514" "0" "c.5514C>T" "r.(=)" "p.(=)" "" "0000949076" "00010304" "30" "4949" "0" "4951" "0" "c.4949_4951dup" "r.(?)" "p.(Gln1650dup)" "" "0000949077" "00010304" "90" "3034" "0" "3034" "0" "c.3034C>T" "r.(?)" "p.(Arg1012*)" "" "0000960237" "00010304" "90" "3385" "0" "3385" "0" "c.3385C>T" "r.(?)" "p.(Arg1129Ter)" "" "0000972030" "00010304" "70" "4288" "0" "4289" "0" "c.4288_4289insGAGT" "r.(?)" "p.(Ser1430*)" "17" "0000978204" "00010304" "30" "5740" "0" "5740" "0" "c.5740A>G" "r.(?)" "p.(Met1914Val)" "" "0000978205" "00010304" "30" "5683" "0" "5683" "0" "c.5683C>T" "r.(?)" "p.(Arg1895Cys)" "" "0000978206" "00010304" "30" "5494" "0" "5494" "0" "c.5494A>G" "r.(?)" "p.(Met1832Val)" "" "0000978207" "00010304" "50" "4837" "0" "4854" "0" "c.4837_4854del" "r.(?)" "p.(Gly1613_Met1618del)" "" "0000978208" "00010304" "30" "3968" "0" "3968" "0" "c.3968A>G" "r.(?)" "p.(His1323Arg)" "" "0000978209" "00010304" "30" "3847" "0" "3864" "0" "c.3847_3864del" "r.(?)" "p.(Gln1283_Glu1288del)" "" "0000978210" "00010304" "50" "3645" "0" "3647" "0" "c.3645_3647del" "r.(?)" "p.(Glu1215del)" "" "0000978211" "00010304" "50" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972Cys)" "" "0000978212" "00010304" "30" "1903" "-160" "1903" "-160" "c.1903-160T>C" "r.(=)" "p.(=)" "" "0000978213" "00010304" "90" "1506" "0" "1506" "0" "c.1506del" "r.(?)" "p.(Asp503Ilefs*42)" "" "0000978214" "00010304" "70" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Arg357*)" "" "0000989152" "00010304" "70" "765" "0" "765" "0" "c.765dup" "r.(?)" "p.(Arg256Thrfs*8)" "4" "0000997172" "00010304" "30" "5969" "0" "5969" "0" "c.5969C>T" "r.(?)" "p.(Ala1990Val)" "" "0000997173" "00010304" "30" "5879" "0" "5879" "0" "c.5879G>A" "r.(?)" "p.(Ser1960Asn)" "" "0000997174" "00010304" "30" "5735" "0" "5735" "0" "c.5735A>G" "r.(?)" "p.(Asn1912Ser)" "" "0000997175" "00010304" "30" "5102" "0" "5102" "0" "c.5102C>T" "r.(?)" "p.(Pro1701Leu)" "" "0000997176" "00010304" "30" "5040" "0" "5051" "0" "c.5040_5051dup" "r.(?)" "p.(Gln1681_Gln1684dup)" "" "0000997177" "00010304" "50" "4973" "0" "4981" "0" "c.4973_4981dup" "r.(?)" "p.(Gln1658_Gln1660dup)" "" "0000997178" "00010304" "30" "4870" "0" "4870" "0" "c.4870G>A" "r.(?)" "p.(Val1624Ile)" "" "0000997179" "00010304" "30" "4801" "0" "4801" "0" "c.4801A>G" "r.(?)" "p.(Ser1601Gly)" "" "0000997180" "00010304" "70" "4226" "0" "4226" "0" "c.4226T>G" "r.(?)" "p.(Leu1409*)" "" "0000997181" "00010304" "70" "3834" "0" "3834" "0" "c.3834dup" "r.(?)" "p.(Val1279Cysfs*34)" "" "0000997182" "00010304" "50" "3503" "0" "3503" "0" "c.3503G>A" "r.(?)" "p.(Gly1168Asp)" "" "0000997183" "00010304" "30" "3172" "0" "3172" "0" "c.3172A>T" "r.(?)" "p.(Met1058Leu)" "" "0000997184" "00010304" "30" "2915" "0" "2915" "0" "c.2915G>A" "r.(?)" "p.(Arg972His)" "" "0000997185" "00010304" "30" "2870" "0" "2870" "0" "c.2870C>T" "r.(?)" "p.(Ala957Val)" "" "0000997186" "00010304" "30" "2786" "0" "2786" "0" "c.2786A>C" "r.(?)" "p.(Gln929Pro)" "" "0000997187" "00010304" "30" "2632" "0" "2632" "0" "c.2632C>T" "r.(?)" "p.(Arg878Cys)" "" "0000997188" "00010304" "30" "2129" "0" "2129" "0" "c.2129A>G" "r.(?)" "p.(Gln710Arg)" "" "0000997189" "00010304" "50" "1876" "0" "1876" "0" "c.1876T>A" "r.(?)" "p.(Cys626Ser)" "" "0000997190" "00010304" "50" "1598" "3" "1598" "3" "c.1598+3A>G" "r.spl?" "p.?" "" "0000997191" "00010304" "30" "1445" "0" "1445" "0" "c.1445T>A" "r.(?)" "p.(Met482Lys)" "" "0000997192" "00010304" "50" "1118" "0" "1118" "0" "c.1118A>G" "r.(?)" "p.(Gln373Arg)" "" "0001014445" "00010304" "30" "5040" "0" "5051" "0" "c.5040_5051del" "r.(?)" "p.(Gln1681_Gln1684del)" "" "0001014446" "00010304" "50" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Pro565Leu)" "" "0001025519" "00010304" "50" "3847" "0" "3864" "0" "c.3847_3864del" "r.(?)" "p.(Gln1283_Glu1288del)" "" "0001025520" "00010304" "50" "2500" "0" "2500" "0" "c.2500A>G" "r.(?)" "p.(Lys834Glu)" "" "0001025521" "00010304" "30" "1157" "0" "1157" "0" "c.1157G>A" "r.(?)" "p.(Arg386Gln)" "" "0001036966" "00010304" "50" "5330" "0" "5330" "0" "c.5330T>C" "r.(?)" "p.(Val1777Ala)" "" "0001036967" "00010304" "50" "3574" "0" "3574" "0" "c.3574A>G" "r.(?)" "p.(Ile1192Val)" "" "0001036968" "00010304" "30" "3327" "0" "3327" "0" "c.3327A>T" "r.(?)" "p.(Glu1109Asp)" "" "0001036969" "00010304" "50" "2998" "0" "2998" "0" "c.2998A>T" "r.(?)" "p.(Ser1000Cys)" "" "0001036970" "00010304" "50" "2752" "0" "2752" "0" "c.2752G>C" "r.(?)" "p.(Glu918Gln)" "" "0001036971" "00010304" "70" "1364" "-1" "1364" "-1" "c.1364-1G>T" "r.spl?" "p.?" "" "0001036972" "00010304" "70" "1364" "-2" "1364" "-2" "c.1364-2A>T" "r.spl?" "p.?" "" "0001046163" "00010304" "50" "2977" "0" "2979" "0" "c.2977_2979del" "r.(?)" "p.(Glu993del)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000081187" "0000130273" "0000247002" "0000499842" "0000271026" "0000624872" "0000277024" "0000631976" "0000277185" "0000631929" "0000277190" "0000631934" "0000301434" "0000664370" "0000302391" "0000665624" "0000302391" "0000665625" "0000309170" "0000683670" "0000384380" "0000811001" "0000384381" "0000811002" "0000391297" "0000821035" "0000409366" "0000846522" "0000436119" "0000922464" "0000440135" "0000936293" "0000449754" "0000960237" "0000450095" "0000972030" "0000454351" "0000989152"