### LOVD-version 3000-220 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KAT6B) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "KAT6B" "K(lysine) acetyltransferase 6B" "10" "q22.2" "unknown" "NG_032048.1" "UD_134408563615" "" "http://www.LOVD.nl/KAT6B" "" "1" "1" "17582" "23522" "605880" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/KAT6B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00081" "2018-12-31 00:35:22" "00081" "2019-06-28 17:07:09" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00010305" "KAT6B" "transcript variant 1" "001" "NM_012330.3" "" "NP_036462.2" "" "" "" "-701" "7798" "6222" "76586171" "76792380" "" "0000-00-00 00:00:00" "" "" "00023816" "KAT6B" "transcript variant 2" "002" "NM_001256468.1" "" "NP_001243397.1" "" "" "" "-701" "7249" "5673" "76586171" "76792380" "00006" "2013-05-27 16:34:05" "" "" "00023817" "KAT6B" "transcript variant 3" "003" "NM_001256469.1" "" "NP_001243398.1" "" "" "" "-701" "6922" "5346" "76586171" "76792380" "00006" "2013-05-27 16:34:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00135" "GTPTS" "genitopatellar syndrome (GTPTS)" "" "606170" "" "" "" "00006" "2013-05-27 16:24:07" "00006" "2015-12-08 23:54:35" "00136" "SBBYSS" "Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, Ohdo syndrome)" "" "603736" "" "" "" "00006" "2013-05-27 16:25:40" "00006" "2015-12-08 23:54:35" "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" "2016-10-22 17:54:40" "00383" "NS" "syndrome, Noonan (NS)" "" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2018-06-20 14:57:22" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KAT6B" "00135" "KAT6B" "00136" "KAT6B" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 82 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{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}}" "00018483" "" "" "" "1" "00747" "" "Typical Say Barber Biesecker" "F" "" "" "" "0" "" "" "" "" "00018485" "" "" "" "1" "00747" "" "Say Barber Biesecker Study" "" "" "" "" "0" "" "" "" "" "00018486" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018488" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018491" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018492" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018493" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018494" "" "" "" "1" "00747" "" "" "M" "" "" "" "0" "" "" "" "" "00018495" "" "" "" "1" "00747" "" "" "M" "" "" "" "0" "" "" "" "" "00018496" "" "" "" "1" "00747" "" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00018497" "" "" "" "1" "00747" "" "" "F" "" "" "" "0" "" "" "" "" "00018498" "" "" "" "1" "00747" "" "" "F" "" "" "" "0" "" "" "" "" "00018499" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018500" "" "" "" "1" "00747" "" "" "M" "" "" "" "0" "" "" "" "" "00018501" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018502" "" "" "" "1" "00747" "" "" "F" "" "" "" "0" "" "" "" "" "00018504" "" "" "" "1" "00747" "" "" "F" "" "" "" "0" "" "" "" "" "00018505" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018506" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018507" "" "" "" "1" "00747" "" "Studied in Ulm" "" "" "" "" "0" "" "" "" "" "00018509" "" "" "" "1" "00747" "" "" "" "" "" "" "0" "" "" "" "" "00018512" "" "" "" "1" "00747" "" "" "F" "" "" "" "0" "" "" "" "" "00018513" "" "" "" "1" "00747" "" "" "M" "" "" "" "0" "" "" "" "" "00018514" "" "" "" "1" "00747" "" "" "M" "" "" "" "0" "" "" "" "" "00018515" "" "" "" "1" "00747" "" "" "M" "" "" "" "0" "" "" "" "" "00018516" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018517" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018518" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018519" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018520" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018521" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018522" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018523" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018524" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018525" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018526" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018527" "" "" "" "1" "00081" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018528" "" "" "" "1" "00081" "{PMID:Simpson et al.:22265017}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018529" "" "" "" "1" "00081" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018530" "" "" "" "1" "00081" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018531" "" "" "" "1" "00081" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018532" "" "" "" "1" "00081" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018533" "" "" "" "1" "00081" "{PMID:Kraft M et al.:21804188}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018534" "" "" "" "1" "00081" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018535" "" "" "" "1" "00081" "" "" "" "?" "? (unknown)" "" "0" "" "" "?" "" "00018536" "" "" "" "1" "00081" "Szakszon et al, AJMG 2013" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018537" "" "" "" "1" "00081" "Szakszon et al, AJMG 2013" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018538" "" "" "" "1" "00081" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018539" "" "" "" "1" "00081" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018540" "" "" "" "1" "00081" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018541" "" "" "" "1" "00081" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018542" "" "" "" "1" "00081" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018543" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018544" "" "" "" "1" "00081" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00050412" "" "" "" "1" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050507" "" "" "" "1" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050628" "" "" "" "2" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050641" "" "" "" "1" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected and affected2nd degree relatives" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080993" "" "" "" "1" "01758" "Trujillano et al., submitted" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00164738" "" "" "" "1" "02494" "" "" "M" "no" "Spain" "11y" "0" "" "" "White" "P1" "00164739" "" "" "" "1" "02494" "" "" "M" "no" "Spain" "06y" "0" "" "" "White" "P2" "00176986" "" "" "" "1" "00081" "{PMID:[Lonardo 2017]:28857140}" "GPS and SBBYSS features present" "M" "no" "" "" "0" "" "" "" "" "00176987" "" "" "" "1" "00081" "{PMID:[Lundsgaard 2017 ]:28232779 }" "" "F" "no" "" "" "0" "" "" "" "" "00176989" "" "" "" "1" "00081" "{PMID:[Okano 2018]:29899993 }" "Genitopatellar syndrome (GPS)" "F" "no" "Japan" "" "0" "" "" "" "" "00176990" "" "" "" "1" "00081" "{PMID:[Vlckova 2015]:26370006 }" "" "F" "no" "" "" "0" "" "" "" "" "00176993" "" "" "" "1" "00081" "{PMID:Li 2017:28426343}" "" "M" "yes" "" "" "0" "" "" "" "" "00176994" "" "" "" "1" "00081" "{PMID:Vlckova 2015:26370006 }" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00177093" "" "" "" "1" "00081" "{PMID:[Knight 2018]: 30084242}" "" "M" "" "" "" "0" "" "" "" "" "00177094" "" "" "" "1" "00081" "{PMID:[Niida 2017]:27696664 }" "" "M" "" "" "" "0" "" "" "" "" "00177095" "" "" "" "1" "00081" "{PMID:[Szakszon 2013]:23436491}" "" "M" "no" "" "" "0" "" "" "" "Patient 1 in report" "00177096" "" "" "" "1" "00081" "{PMID:[Szakszon 2013]:23436491 }" "" "F" "no" "" "" "0" "" "" "" "Patient 2 in report" "00177097" "" "" "" "1" "00081" "{PMID:[Kim 2017]:28758091 }" "" "F" "no" "" "" "0" "" "" "" "Daughter in report" "00177098" "" "" "" "1" "00081" "{PMID:[Kim 2017]:28758091 }" "" "M" "" "" "" "0" "" "" "" "Father in report" "00177099" "" "" "" "1" "00081" "{PMID:[Kim 2017]:28758091}" "" "M" "" "" "" "0" "" "" "" "Uncle in report" "00177100" "" "" "" "1" "00081" "{PMID:[Marangi 2017]:29226580}" "" "F" "" "" "" "0" "" "" "" "" "00177101" "" "" "" "1" "00081" "{PMID:[Radvanszky 2017]:27452416}" "" "F" "" "" "" "0" "" "" "" "" "00177102" "" "" "" "1" "00081" "{PMID:[1]:[2]}" "" "F" "no" "" "" "0" "" "" "" "Patient 1 in report" "00177103" "" "" "" "1" "00081" "{PMID:[Yilmaz 2015]:26334766}" "" "F" "yes" "" "" "0" "" "" "" "Patient 2 in report" "00177104" "" "" "" "1" "00081" "{PMID:[Yilmaz 2015]:26334766}" "" "F" "no" "" "" "0" "" "" "" "Patient 3 in report" "00177105" "" "" "" "1" "00081" "{PMID:[Bashir 2017]:28696035}" "" "M" "no" "" "" "0" "" "" "" "Patient 1 in report" "00177107" "" "" "" "1" "00081" "{PMID:[Bashir 2017]:28696035}" "" "M" "no" "" "" "0" "" "" "" "Patient 2 in report" "00218352" "" "" "" "1" "03185" "" "" "M" "no" "Argentina" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 67 "{{individualid}}" "{{diseaseid}}" "00018483" "00136" "00018485" "00136" "00018486" "00136" "00018488" "00136" "00018491" "00136" "00018492" "00136" "00018493" "00136" "00018494" "00136" "00018495" "00136" "00018496" "00136" "00018497" "00136" "00018498" "00136" "00018499" "00136" "00018500" "00136" "00018501" "00136" "00018502" "00136" "00018504" "00136" "00018505" "00136" "00018506" "00136" "00018507" "00136" "00018509" "00136" "00018512" "00135" "00018513" "00135" "00018514" "00135" "00018515" "00136" "00018516" "00136" "00018517" "00136" "00018518" "00136" "00018519" "00136" "00018520" "00136" "00018521" "00136" "00018522" "00136" "00018523" "00136" "00018524" "00136" "00018525" "00136" "00018526" "00136" "00018527" "00135" "00018528" "00135" "00018529" "00135" "00018530" "00135" "00018531" "00135" "00018532" "00135" "00018533" "00383" "00018534" "00135" "00018535" "00136" "00018536" "00136" "00018537" "00136" "00018538" "00135" "00018539" "00135" "00018540" "00135" "00018541" "00135" "00018542" "00135" "00018543" "00136" "00018544" "00136" "00050412" "00198" "00050507" "00198" "00050628" "00198" "00050641" "00198" "00080993" "00135" "00164738" "00136" "00164739" "00136" "00176986" "00136" "00176987" "00136" "00176990" "00135" "00176990" "00136" "00176993" "00136" "00218352" "00136" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00135, 00136, 00139, 00198, 00383 ## Count = 34 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Development/Speech/Delayed}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{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}}" "0000016869" "00136" "00018516" "00081" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cryptorchidism; Hypospadias; Height 50 pctile; Weight 25 pctile; OFC <3 pctile; ;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016870" "00136" "00018517" "00081" "Unknown" "" "Mask-like facial appearance; Birth weight 0.4 pctile; Hypotonia; Learning Disability; Feeding problems; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias; Height 25 pctile; Weight 25 pctile; OFC 2 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016871" "00136" "00018518" "00081" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Heart Defect; Cryptorchidism; Height 50 pctile; Weight 50 pctile; OFC 2 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016872" "00136" "00018519" "00081" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Lacrimal ductabn.; Thyroid abnormal; Heart Defect; Height 9 pctile; Weight 75 pctile; OFC 91 pctile" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016873" "00136" "00018520" "00081" "Unknown" "" "Mask-like facial appearance; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016874" "00136" "00018521" "00081" "Unknown" "" "Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016875" "00136" "00018522" "00081" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Lacrimal ductabn.; Cleft palate; Heart Defect; Height 2 pctile; Weight 9 pctile; OFC 2 to 9 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016876" "00136" "00018523" "00081" "Unknown" "" "Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Height 2 to 9 pctile; Weight 50 pctile; OFC 50-75 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016877" "00136" "00018524" "00081" "Unknown" "" "Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Cryptorchidism; Height 25-50 pctile; Weight 98 pctile; OFC 25-50 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016878" "00136" "00018525" "00081" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cleft palate; Height 50 pctile; Weight 75 pctile; OFC <50 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016879" "00136" "00018526" "00081" "Unknown" "" "Mask-like facial appearance; Hypotonia; Feeding problems; Dental anomalies; Thyroid abnormal; Height 25 pctile; Weight 25 pctile; OFC 25 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016880" "00135" "00018527" "00081" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Pelvic anomalies; Radioulnar synostosis; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Hearing loss; Anteriorly positioned anus; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Atrial septal defect; Tortuous ascending aorta; Facial dysmorphisms; Broad nasal bridge; Resp distress/apnea;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016881" "00135" "00018528" "00081" "Unknown" "" "Clitoral hypertrophy; Hypoplastic labia minora; Absent patellae; Hypoplastic patellae; Flexion contractures of the hips; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defects (ASD, VSD, PDA);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016882" "00135" "00018529" "00081" "Unknown" "" "Clitoral hypertrophy; Absent patellae; Flexion contractures of the hips; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Pelvic anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016883" "00135" "00018530" "00081" "Unknown" "" "Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defect (ASD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016884" "00135" "00018531" "00081" "Unknown" "" "Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Coarse face; Broad/bulbous nose; Hydronephrosis; Pelvic anomaly; Congenital heart defect (PDA);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016885" "00135" "00018532" "00081" "Unknown" "" "Clitoral hypertrophy; Hypoplastic labia minora; Absent patellae; Flexion contractures of the hips; Flexion contractures of the knees; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Pelvic anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016886" "00383" "00018533" "00081" "Unknown" "" "Noonan syndrome–like phenotype; microcephaly; ADHD, IQ 75-80; Normal MRI; Blepharophimosis; Ptosis ; High arched eyebrows ; Low-set ears with overfolded helix and fleshy lobe, ; Smooth philtrum; Retrognathia; High arched palate; Short stature; Retarded bone age; Ligamentous laxity;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016887" "00135" "00018534" "00081" "Unknown" "" "Oligohydramnios noted at 6 mo. Gestation; B wt 3.2 kg, term; Seizures from neonatal period; Failure to thrive; Global developmental delay; Microcephaly; Facial dysmorphism; Sparse hair- scalp, eye brow; Deficient abdominal wall muscles; Rudimentary scrotum, absent testes; Flexion contracure both hip and knee; Absent patellae both sides; CTEV on right side; Small patent ductus arteriosus; USG- Right PUJ obstruction with hydronephrosis, testes not imaged in inguinal canal or pelvis; EEG- bilateral epileptiform discharges; MRI- complete absence of corpus callosum; Left femoral head dislocated; MCU- dilatation of prostatic urethra, no VUR" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016888" "00136" "00018535" "00081" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016889" "00136" "00018536" "00081" "Unknown" "" "Small for gestational age, patent foramen ovale, gastrectasia, kidney lithiasis. developmental delay, severe hypotonia, feeding difficulties, urinary infections, and primary hypothyroidism. length <3rd centile, weight 3rd centile, and OFC 5th centile. Immobile face, a broad forehead with slight biparietal narrowing, sparse eyebrows and eyelashes, blepharophimosis, telecanthus, a broad and flat nasal bridge, a short nose with a bulbous nasal tip, a long philtrum, thin lip vermilion, and micrognathia. Ears posteriorly angulated, large, and apparently low-set. Broad and short neck. High palate. Fingers tapering with clinodactyly of the 5th fingers. The length of the middle finger was at the 25th centile while both thumbs appeared long. Bilateral cryptorchidism." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016890" "00136" "00018537" "00081" "Unknown" "" "failure to thrive, hypotonia, cleft palate, and developmental delay. Round face, bilateral blepharophimosis, ptosis, apparently low-set and short ears with overfolded helix, prominent crus helix and antihelix, stenotic external ear canals, hypertelorism, low nasal bridge, long philtrum, thin lip; vermilion, and dental anomalies. The proximal phalanx of the thumbs was long. No visceral malformation; was detected on ultrasound examinations. She had primary hypothyroidism. Hearing impairment found by auditory steady state responses (ASSR) was mild and she did not require hearing aids. Motor and intellectual; development was severely delayed. IQ 38, severe intellectual disability. Brain MRI revealed delayed myelination and disruption of tracts in the periventricular white matter [Szakszon et al., 2011]. At 4 years, the bony islands of the patellae have not yet appeared, consistent with delayed ossification." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016891" "00135" "00018538" "00081" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Optic atrophy/cortical visual impairment; Hearing loss; Scrotal hypoplasia; Cryptochidism; Hydronephrosis; Patent ductus arteriosus; Patent foramen ovale and; Facial dysmorphisms; Broad nasal bridge; Tracheo/laryngomalacia; Feeding difficulties; Resp distress/apnea;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016892" "00135" "00018539" "00081" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Brachydactyly; Short stature; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Optic atrophy/cortical visual impairment; Anteriorly positioned anus; Hypoplastic labia minora/majora; Underdeveloped clitoris; Hydronephrosis; Multicystic kidneys; Hypoplastic kidneys; Atrial septal defect; Facial dysmorphisms; Prominent nasal bridge; Teeth anomalies; sparse hair; Tracheo/laryngomalacia; Feeding difficulties; Small bowel malrotation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016893" "00135" "00018540" "00081" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Thoracolumbar kyphosis/scoliosis; Pelvic anomalies; ; Rib anomalies; Joint laxity; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Isolated seizure; Optic atrophy/cortical visual impairment; Anal atresia/stenosis; Scrotal hypoplasia; Hydronephrosis; Atrial septal defect; Ventricular septal defect; Facial dysmorphisms; Prominent nasal bridge; Retrognatia/micrognatia; full cheeks; ear anomalies; Teeth anomalies; sparse hair; Single palmar crease; Feeding difficulties; Skin laxity/redundance;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016894" "00135" "00018541" "00081" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Thoracolumbar kyphosis/scoliosis; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Subdural hemorrhage; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Facial dysmorphisms; Feeding difficulties; Hypothyroidism;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016895" "00135" "00018542" "00081" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Developmental delay or intellectual disability; Absent or thin corpus callosum; Pachygyria ; Subependymal periventricular nodular heterotopia; Anal atresia/stenosis; Rectal duplication; Scrotal hypoplasia; Cryptochidism; Multicystic kidneys; Atrial septal defect; ;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016896" "00136" "00018543" "00081" "Unknown" "" "Mask-like facial appearance; Birth weight 75 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016897" "00136" "00018544" "00081" "Unknown" "" "Birth weight 24 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Thyroid abnormal; Height 25 pctile; Weight 50 pctile; OFC 9 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037024" "00198" "00050412" "00006" "Isolated (sporadic)" "" "intrauterine growth retardation, delayed speech and language development, specific learning disability, telecanthus, blepharophimosis, microtia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037119" "00198" "00050507" "00006" "Isolated (sporadic)" "" "blepharophimosis, global developmental delay, congenital ptosis, generalized hypotonia, narrow forehead, bilateral single transverse palmar creases, abnormality of the face, small chin, epicanthus, low-set posteriorly rotated ears" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037240" "00198" "00050628" "00006" "Unknown" "" "cognitive impairment, microcephaly, gait ataxia, slender build, short stature" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037253" "00198" "00050641" "00006" "Unknown" "" "microcephaly, supernumerary nipples, pectus carinatum, global developmental delay, specific learning disability, delayed speech and language development, incomprehensible speech" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060562" "00135" "00080993" "01758" "Isolated (sporadic)" "" "Genitopatellar syndrome (OMIM:606170)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 82 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000018467" "00018483" "1" "00747" "00747" "2014-07-17 18:44:29" "" "" "SEQ" "DNA" "" "" "0000018469" "00018485" "1" "00747" "00747" "2014-07-17 22:16:11" "" "" "SEQ" "DNA" "" "" "0000018470" "00018486" "1" "00747" "00747" "2014-07-17 22:22:18" "" "" "SEQ" "DNA" "" "" "0000018472" "00018488" "1" "00747" "00747" "2014-07-17 22:32:44" "" "" "SEQ" "DNA" "" "" "0000018475" "00018491" "1" "00747" "00747" "2014-07-17 22:46:23" "" "" "SEQ" "DNA" "" "" "0000018476" "00018492" "1" "00747" "00747" "2014-07-17 22:51:08" "" "" "SEQ" "DNA" "" "" "0000018477" "00018493" "1" "00747" "00747" "2014-07-17 22:55:32" "" "" "SEQ" "DNA" "" "" "0000018478" "00018494" "1" "00747" "00747" "2014-07-17 23:00:59" "" "" "SEQ" "DNA" "" "" "0000018479" "00018495" "1" "00747" "00747" "2014-07-17 23:08:14" "" "" "SEQ" "DNA" "" "" "0000018480" "00018496" "1" "00747" "00747" "2014-07-17 23:16:41" "" "" "SEQ" "DNA" "" "" "0000018481" "00018497" "1" "00747" "00747" "2014-07-17 23:21:35" "" "" "SEQ" "DNA" "" "" "0000018482" "00018498" "1" "00747" "00747" "2014-07-17 23:26:38" "" "" "SEQ" "DNA" "" "" "0000018483" "00018499" "1" "00747" "00747" "2014-07-17 23:31:31" "" "" "SEQ" "DNA" "" "" "0000018484" "00018500" "1" "00747" "00747" "2014-07-17 23:36:39" "" "" "SEQ" "DNA" "" "" "0000018485" "00018501" "1" "00747" "00747" "2014-07-17 23:41:22" "" "" "SEQ" "DNA" "" "" "0000018486" "00018502" "1" "00747" "00747" "2014-07-17 23:45:41" "" "" "SEQ" "DNA" "" "" "0000018488" "00018504" "1" "00747" "00747" "2014-07-17 23:55:44" "" "" "SEQ" "DNA" "" "" "0000018489" "00018505" "1" "00747" "00747" "2014-07-18 00:00:24" "" "" "SEQ" "DNA" "" "" "0000018490" "00018506" "1" "00747" "00747" "2014-07-18 00:05:31" "" "" "SEQ" "DNA" "" "" "0000018491" "00018507" "1" "00747" "00747" "2014-07-18 00:10:15" "" "" "SEQ" "DNA" "" "" "0000018493" "00018509" "1" "00747" "00747" "2014-07-18 00:21:53" "" "" "SEQ" "DNA" "" "" "0000018496" "00018512" "1" "00747" "00747" "2014-07-18 00:34:50" "" "" "SEQ" "DNA" "" "" "0000018497" "00018513" "1" "00747" "00747" "2014-07-18 00:40:20" "" "" "SEQ" "DNA" "" "" "0000018498" "00018514" "1" "00747" "00747" "2014-07-18 00:45:17" "" "" "SEQ" "DNA" "" "" "0000018499" "00018515" "1" "00747" "00747" "2014-07-18 00:49:36" "" "" "SEQ" "DNA" "" "" "0000018500" "00018516" "1" "00081" "00081" "2012-01-10 18:41:36" "00081" "2012-01-24 18:36:37" "SEQ" "DNA" "" "" "0000018501" "00018517" "1" "00081" "00081" "2012-01-22 18:29:19" "00081" "2012-01-24 18:36:11" "SEQ" "DNA" "" "" "0000018502" "00018518" "1" "00081" "00081" "2012-01-22 18:30:19" "00081" "2012-01-24 18:37:00" "SEQ" "DNA" "" "" "0000018503" "00018519" "1" "00081" "00081" "2012-01-22 18:31:39" "00081" "2012-01-24 18:38:47" "SEQ" "DNA" "" "" "0000018504" "00018520" "1" "00081" "00081" "2012-01-22 18:32:34" "00081" "2012-01-24 18:37:31" "SEQ" "DNA" "" "" "0000018505" "00018521" "1" "00081" "00081" "2012-01-22 18:36:51" "00081" "2012-01-24 18:37:57" "SEQ" "DNA" "" "" "0000018506" "00018522" "1" "00081" "00081" "2012-01-22 18:37:44" "00081" "2012-01-24 18:37:57" "SEQ" "DNA" "" "" "0000018507" "00018523" "1" "00081" "00081" "2012-01-22 18:44:03" "00081" "2012-01-24 18:37:00" "SEQ" "DNA" "" "" "0000018508" "00018524" "1" "00081" "00081" "2012-01-22 18:46:15" "00081" "2012-01-24 18:35:29" "SEQ" "DNA" "" "" "0000018509" "00018525" "1" "00081" "00081" "2012-01-22 18:47:30" "00081" "2012-01-24 18:37:17" "SEQ" "DNA" "" "" "0000018510" "00018526" "1" "00081" "00081" "2012-01-22 18:48:32" "00081" "2012-01-24 18:38:30" "SEQ" "DNA" "" "" "0000018511" "00018527" "1" "00081" "00081" "2012-01-22 17:52:43" "00081" "2012-01-24 18:31:28" "SEQ" "DNA" "" "" "0000018512" "00018528" "1" "00081" "00081" "2012-01-22 18:52:57" "00081" "2012-01-24 18:32:05" "SEQ" "DNA" "" "" "0000018513" "00018529" "1" "00081" "00081" "2012-01-22 18:53:41" "00081" "2012-01-24 18:32:30" "SEQ" "DNA" "" "" "0000018514" "00018530" "1" "00081" "00081" "2012-01-22 18:54:33" "00081" "2012-01-24 18:32:48" "SEQ" "DNA" "" "" "0000018515" "00018531" "1" "00081" "00081" "2012-01-22 18:55:16" "00081" "2012-01-24 18:33:33" "SEQ" "DNA" "" "" "0000018516" "00018532" "1" "00081" "00081" "2012-01-22 18:56:04" "00081" "2012-01-24 18:33:07" "SEQ" "DNA" "" "" "0000018517" "00018533" "1" "00081" "00081" "2012-02-14 08:17:56" "00081" "2012-02-14 08:19:49" "SEQ" "DNA" "" "" "0000018518" "00018534" "1" "00081" "00081" "2012-11-27 05:02:04" "00081" "2012-11-27 05:07:58" "SEQ" "DNA" "" "" "0000018519" "00018535" "1" "00081" "00081" "2012-11-27 05:06:36" "00081" "2012-11-27 05:08:30" "SEQ" "DNA" "" "" "0000018520" "00018536" "1" "00081" "00081" "2013-02-24 16:25:31" "" "" "SEQ" "DNA" "" "" "0000018521" "00018537" "1" "00081" "00081" "2013-02-24 16:28:04" "" "" "SEQ" "DNA" "" "" "0000018522" "00018538" "1" "00081" "00081" "2012-01-22 17:53:49" "00081" "2012-01-24 18:31:42" "SEQ" "DNA" "" "" "0000018523" "00018539" "1" "00081" "00081" "2012-01-22 18:01:30" "00081" "2012-01-24 18:31:09" "SEQ" "DNA" "" "" "0000018524" "00018540" "1" "00081" "00081" "2012-01-22 18:06:26" "00081" "2012-01-24 18:30:00" "SEQ" "DNA" "" "" "0000018525" "00018541" "1" "00081" "00081" "2012-01-22 18:07:20" "00081" "2012-01-24 18:30:46" "SEQ" "DNA" "" "" "0000018526" "00018542" "1" "00081" "00081" "2012-01-22 18:08:32" "00081" "2012-01-24 18:30:27" "SEQ" "DNA" "" "" "0000018527" "00018543" "1" "00081" "00081" "2012-01-22 18:16:26" "00081" "2012-01-24 18:38:15" "SEQ" "DNA" "" "" "0000018528" "00018544" "1" "00081" "00081" "2012-01-22 18:27:42" "00081" "2012-01-24 18:35:45" "SEQ" "DNA" "" "" "0000050357" "00050412" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050452" "00050507" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050573" "00050628" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050586" "00050641" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081105" "00080993" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000165605" "00164738" "1" "02494" "02494" "2018-06-07 08:35:09" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000165606" "00164739" "1" "02494" "02494" "2018-06-07 08:54:17" "" "" "SEQ-NG-IT" "DNA" "" "WES" "0000177876" "00176986" "1" "00081" "00081" "2018-08-14 17:48:23" "" "" "SEQ-NG" "DNA" "" "WES" "0000177879" "00176989" "1" "00081" "00081" "2018-08-14 20:15:00" "" "" "SEQ" "DNA" "" "" "0000177880" "00176990" "1" "00081" "00081" "2018-08-14 21:03:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000177883" "00176987" "1" "00081" "00081" "2018-08-14 21:31:02" "" "" "SEQ" "DNA" "" "" "0000177884" "00176993" "1" "00081" "00081" "2018-08-14 21:44:22" "" "" "SEQ" "DNA" "" "" "0000177885" "00176994" "1" "00081" "00081" "2018-08-14 21:54:28" "" "" "SEQ" "DNA" "" "" "0000177993" "00177093" "1" "00081" "00081" "2018-08-17 19:18:15" "" "" "SEQ-NG" "DNA" "" "WES" "0000177994" "00177094" "1" "00081" "00081" "2018-08-17 19:36:15" "" "" "CMC" "DNA" "" "WES" "0000177995" "00177095" "1" "00081" "00081" "2018-08-17 19:49:01" "" "" "?" "DNA" "" "" "0000177996" "00177096" "1" "00081" "00081" "2018-08-17 19:54:18" "" "" "?" "DNA" "" "" "0000177997" "00177097" "1" "00081" "00081" "2018-08-17 20:01:01" "" "" "SEQ" "DNA" "" "" "0000177998" "00177098" "1" "00081" "00081" "2018-08-17 20:20:15" "" "" "SEQ" "DNA" "" "" "0000177999" "00177099" "1" "00081" "00081" "2018-08-17 20:24:58" "" "" "SEQ" "DNA" "" "" "0000178000" "00177100" "1" "00081" "00081" "2018-08-17 20:31:45" "" "" "SEQ-NG" "DNA" "" "" "0000178001" "00177101" "1" "00081" "00081" "2018-08-17 20:38:43" "" "" "?" "DNA" "" "" "0000178002" "00177102" "1" "00081" "00081" "2018-08-17 20:50:40" "" "" "PCR" "DNA" "" "" "0000178003" "00177103" "1" "00081" "00081" "2018-08-17 21:44:03" "" "" "PCR" "DNA" "" "" "0000178004" "00177104" "1" "00081" "00081" "2018-08-17 21:50:32" "" "" "PCR" "DNA" "" "" "0000178005" "00177105" "1" "00081" "00081" "2018-08-17 22:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000178007" "00177107" "1" "00081" "00081" "2018-08-17 22:29:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000219421" "00218352" "1" "03185" "03185" "2019-01-23 16:08:20" "" "" "SEQ-NG" "DNA" "blood leukocytes" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{geneid}}" "0000018467" "KAT6B" "0000018469" "KAT6B" "0000018470" "KAT6B" "0000018472" "KAT6B" "0000018475" "KAT6B" "0000018476" "KAT6B" "0000018477" "KAT6B" "0000018478" "KAT6B" "0000018479" "KAT6B" "0000018480" "KAT6B" "0000018481" "KAT6B" "0000018482" "KAT6B" "0000018483" "KAT6B" "0000018484" "KAT6B" "0000018485" "KAT6B" "0000018486" "KAT6B" "0000018488" "KAT6B" "0000018489" "KAT6B" "0000018490" "KAT6B" "0000018491" "KAT6B" "0000018493" "KAT6B" "0000018496" "KAT6B" "0000018497" "KAT6B" "0000018498" "KAT6B" "0000018499" "KAT6B" "0000018500" "KAT6B" "0000018501" "KAT6B" "0000018502" "KAT6B" "0000018503" "KAT6B" "0000018504" "KAT6B" "0000018505" "KAT6B" "0000018506" "KAT6B" "0000018507" "KAT6B" "0000018508" "KAT6B" "0000018509" "KAT6B" "0000018510" "KAT6B" "0000018511" "KAT6B" "0000018512" "KAT6B" "0000018513" "KAT6B" "0000018514" "KAT6B" "0000018515" "KAT6B" "0000018516" "KAT6B" "0000018517" "KAT6B" "0000018518" "KAT6B" "0000018519" "KAT6B" "0000018520" "KAT6B" "0000018521" "KAT6B" "0000018522" "KAT6B" "0000018523" "KAT6B" "0000018524" "KAT6B" "0000018525" "KAT6B" "0000018526" "KAT6B" "0000018527" "KAT6B" "0000018528" "KAT6B" "0000050452" "KAT6B" "0000050573" "KAT6B" "0000050586" "KAT6B" "0000081105" "KAT6B" "0000177883" "KAT6B" "0000177884" "KAT6B" "0000177885" "KAT6B" "0000177996" "KAT6B" "0000177997" "KAT6B" "0000177998" "KAT6B" "0000177999" "KAT6B" "0000219421" "KAT6B" ## 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 = 157 "{{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}}" "0000038933" "0" "70" "10" "76784744" "76784745" "del" "0" "00747" "KAT6B_000025" "g.76784744_76784745del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75024986_75024987del" "" "0000038934" "0" "70" "10" "76789493" "76789503" "del" "0" "00747" "KAT6B_000015" "g.76789493_76789503del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029735_75029745del" "" "0000038935" "0" "70" "10" "76790006" "76790006" "subst" "0" "00747" "KAT6B_000044" "g.76790006C>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030248C>A" "" "0000038936" "0" "70" "10" "76790206" "76790207" "del" "0" "00747" "KAT6B_000046" "g.76790206_76790207del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030448_75030449del" "" "0000038937" "0" "70" "10" "76790024" "76790027" "del" "0" "00747" "KAT6B_000028" "g.76790024_76790027del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75030266_75030269del" "" "0000038938" "0" "70" "10" "76789791" "76789791" "subst" "0" "00747" "KAT6B_000027" "g.76789791C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75030033C>T" "" "0000038939" "0" "70" "10" "76788787" "76788788" "del" "0" "00747" "KAT6B_000010" "g.76788787_76788788del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029029_75029030del" "" "0000038940" "0" "70" "10" "76789697" "76789698" "del" "0" "00747" "KAT6B_000029" "g.76789697_76789698del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029939_75029940del" "" "0000038941" "0" "70" "10" "76790313" "76790313" "subst" "0" "00747" "KAT6B_000047" "g.76790313C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030555C>T" "" "0000038942" "0" "70" "10" "76789884" "76789884" "subst" "0" "00747" "KAT6B_000043" "g.76789884C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030126C>T" "" "0000038943" "0" "70" "10" "76789971" "76789971" "subst" "0" "00747" "KAT6B_000016" "g.76789971C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030213C>T" "" "0000038944" "0" "70" "10" "76781764" "76781764" "subst" "0" "00747" "KAT6B_000026" "g.76781764G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75022006G>A" "" "0000038945" "0" "70" "10" "76781764" "76781764" "subst" "0" "00747" "KAT6B_000026" "g.76781764G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75022006G>A" "" "0000038946" "0" "70" "10" "76781764" "76781764" "subst" "0" "00747" "KAT6B_000026" "g.76781764G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75022006G>A" "" "0000038947" "0" "70" "10" "76789310" "76789311" "del" "0" "00747" "KAT6B_000041" "g.76789310_76789311del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029552_75029553del" "" "0000038948" "0" "70" "10" "76788894" "76788894" "del" "0" "00747" "KAT6B_000039" "g.76788894del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75029136del" "" "0000038949" "0" "70" "10" "76781983" "76781986" "del" "0" "00747" "KAT6B_000033" "g.76781983_76781986del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75022225_75022228del" "" "0000038950" "0" "70" "10" "76789971" "76789971" "subst" "0" "00747" "KAT6B_000016" "g.76789971C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030213C>T" "" "0000038951" "0" "70" "10" "76789971" "76789971" "subst" "0" "00747" "KAT6B_000045" "g.76789971C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030213C>T" "" "0000038952" "0" "70" "10" "76781681" "76781681" "subst" "0" "00747" "KAT6B_000032" "g.76781681G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75021923G>T" "" "0000038953" "0" "70" "10" "76788787" "76788788" "del" "0" "00747" "KAT6B_000010" "g.76788787_76788788del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75029029_75029030del" "" "0000038954" "0" "70" "10" "76781657" "76781657" "subst" "0" "00747" "KAT6B_000030" "g.76781657C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75021899C>T" "" "0000038955" "0" "70" "10" "76788696" "76788696" "subst" "0" "00747" "KAT6B_000038" "g.76788696G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75028938G>T" "" "0000038956" "0" "70" "10" "76789713" "76789713" "del" "0" "00747" "KAT6B_000042" "g.76789713del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75029955del" "" "0000038957" "0" "70" "10" "76789884" "76789884" "subst" "0" "00747" "KAT6B_000043" "g.76789884C>T" "" "" "" "g.76789884C>T" "" "De novo" "" "" "0" "" "" "g.75030126C>T" "" "0000038958" "0" "50" "10" "76780981" "76780981" "subst" "0" "00747" "KAT6B_000031" "g.76780981T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75021223T>C" "" "0000038959" "0" "70" "10" "76788902" "76788903" "del" "0" "00747" "KAT6B_000040" "g.76788902_76788903del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029144_75029145del" "" "0000038960" "0" "70" "10" "76788787" "76788788" "del" "0" "00747" "KAT6B_000010" "g.76788787_76788788del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029029_75029030del" "" "0000038961" "0" "70" "10" "76788656" "76788661" "del" "0" "00747" "KAT6B_000037" "g.76788656_76788661del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75028898_75028903del" "" "0000038962" "0" "70" "10" "76784941" "76784965" "dup" "0" "00747" "KAT6B_000034" "g.76784941_76784965dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75025183_75025207dup25" "" "0000038963" "0" "70" "10" "76788544" "76788545" "del" "0" "00747" "KAT6B_000036" "g.76788544_76788545del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75028786_75028787del" "" "0000038964" "0" "70" "10" "76788351" "76788354" "del" "0" "00747" "KAT6B_000035" "g.76788351_76788354del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75028593_75028596del" "" "0000038965" "0" "70" "10" "76789884" "76789884" "subst" "0" "00747" "KAT6B_000043" "g.76789884C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75030126C>T" "" "0000038966" "0" "99" "10" "76788987" "76788987" "dup" "0" "00081" "KAT6B_000001" "g.76788987dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029229dup" "" "0000038967" "0" "99" "10" "76788651" "76788651" "subst" "0" "00081" "KAT6B_000009" "g.76788651G>T" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028893G>T" "" "0000038968" "0" "99" "10" "76788787" "76788788" "del" "0" "00081" "KAT6B_000010" "g.76788787_76788788del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029029_75029030del" "" "0000038969" "0" "99" "10" "76790316" "76790316" "subst" "0" "00081" "KAT6B_000011" "g.76790316A>T" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030558A>T" "" "0000038970" "0" "99" "10" "76789612" "76789612" "del" "0" "00081" "KAT6B_000012" "g.76789612del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029854del" "" "0000038971" "0" "99" "10" "76789783" "76789792" "dup" "0" "00081" "KAT6B_000013" "g.76789783_76789792dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030025_75030034dup" "" "0000038972" "0" "99" "10" "76789783" "76789792" "dup" "0" "00081" "KAT6B_000013" "g.76789783_76789792dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030025_75030034dup" "" "0000038973" "0" "99" "10" "76788787" "76788788" "del" "0" "00081" "KAT6B_000010" "g.76788787_76788788del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029029_75029030del" "" "0000038974" "0" "99" "10" "76603142" "76603142" "dup" "0" "00081" "KAT6B_000014" "g.76603142dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.74843384dup" "" "0000038975" "0" "99" "10" "76789493" "76789503" "del" "0" "00081" "KAT6B_000015" "g.76789493_76789503del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029735_75029745del" "" "0000038976" "0" "99" "10" "76789971" "76789971" "subst" "0" "00081" "KAT6B_000016" "g.76789971C>T" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030213C>T" "" "0000038977" "0" "99" "10" "76788474" "76788474" "subst" "0" "00081" "KAT6B_000002" "g.76788474G>T" "" "{PMID:Campeau et al.:22265014}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028716G>T" "" "0000038978" "0" "99" "10" "76788262" "76788277" "del" "0" "00081" "KAT6B_000017" "g.76788262_76788277del" "" "{PMID:Simpson et al.:22265017}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028504_75028519del" "" "0000038979" "0" "99" "10" "76788351" "76788354" "del" "0" "00081" "KAT6B_000018" "g.76788351_76788354del" "" "{PMID:Simpson et al.:22265017}" "" "c.3769_3772delTCTA" "" "Unknown" "?" "" "0" "" "" "g.75028593_75028596del" "" "0000038980" "0" "99" "10" "76788351" "76788354" "del" "0" "00081" "KAT6B_000018" "g.76788351_76788354del" "" "{PMID:Simpson et al.:22265017}" "" "c.3769_3772delTCTA" "" "Unknown" "?" "" "0" "" "" "g.75028593_75028596del" "" "0000038981" "0" "99" "10" "76788459" "76788459" "subst" "0" "00081" "KAT6B_000019" "g.76788459A>T" "" "{PMID:Simpson et al.:22265017}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028701A>T" "" "0000038982" "0" "99" "10" "76788355" "76788355" "dup" "0" "00081" "KAT6B_000020" "g.76788355dup" "" "{PMID:Simpson et al.:22265017}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028597dup" "" "0000038983" "0" "99" "10" "76629546" "76629547" "" "0" "00081" "KAT6B_000021" "t(10;13)(q22.3;q34)(g.76629546_76629547del)" "" "{PMID:Kraft M et al.:21804188}" "" "t(10;13)(q22.3;q34)(c.621+26310_c.621+26311)" "" "Unknown" "?" "" "0" "" "" "" "" "0000038984" "0" "99" "10" "76788442" "76788445" "del" "0" "00081" "KAT6B_000022" "g.76788442_76788445del" "" "" "" "c.3860_3863delTAAC" "" "Unknown" "?" "" "0" "" "" "g.75028684_75028687del" "" "0000038985" "0" "77" "10" "76790328" "76790328" "subst" "0" "00081" "KAT6B_000023" "g.76790328C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030570C>T" "" "0000038986" "0" "99" "10" "76789646" "76789653" "delins" "0" "00081" "KAT6B_000024" "g.76789646_76789653delinsCACA" "" "Szakszon et al, AJMG 2013" "" "c.5064_5071delTACTATGGinsCACA" "" "Unknown" "?" "" "0" "" "" "g.75029888_75029895delinsCACA" "" "0000038987" "0" "99" "10" "76789971" "76789971" "subst" "0" "00081" "KAT6B_000016" "g.76789971C>T" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030213C>T" "" "0000038988" "0" "99" "10" "76788942" "76788950" "delins" "0" "00081" "KAT6B_000003" "g.76788942_76788950delinsAAAAACCAAAA" "" "{PMID:Campeau et al.:22265014}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029184_75029192delinsAAAAACCAAAA" "" "0000038989" "0" "99" "10" "76788384" "76788384" "subst" "0" "00081" "KAT6B_000004" "g.76788384G>T" "" "{PMID:Campeau et al.:22265014}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028626G>T" "" "0000038990" "0" "99" "10" "76788351" "76788354" "del" "0" "00081" "KAT6B_000005" "g.76788351_76788354del" "" "{PMID:Campeau et al.:22265014}" "" "c.3769_3772delTCTA" "" "Unknown" "?" "" "0" "" "" "g.75028593_75028596del" "" "0000038991" "0" "99" "10" "76788370" "76788371" "del" "0" "00081" "KAT6B_000006" "g.76788370_76788371del" "" "{PMID:Campeau et al.:22265014}" "" "c.3788_3789delAA" "" "Unknown" "?" "" "0" "" "" "g.75028612_75028613del" "" "0000038992" "0" "99" "10" "76788351" "76788354" "del" "0" "00081" "KAT6B_000005" "g.76788351_76788354del" "" "{PMID:Campeau et al.:22265014}" "" "c.3769_3772delTCTA" "" "Unknown" "?" "" "0" "" "" "g.75028593_75028596del" "" "0000038993" "0" "99" "10" "76789952" "76789955" "dup" "0" "00081" "KAT6B_000007" "g.76789952_76789955dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030194_75030197dup" "" "0000038994" "0" "99" "10" "76781040" "76781040" "del" "0" "00081" "KAT6B_000008" "g.76781040del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75021282del" "" "0000079337" "0" "90" "10" "75971593" "78526861" "del" "0" "00006" "ADK_000001" "g.75971593_78526861del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.74211835_76767103del" "" "0000079432" "0" "90" "10" "76790455" "76790455" "delins" "0" "00006" "KAT6B_000049" "g.76790455_76790455delCTinsC" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.75030697delinsC" "" "0000079553" "0" "90" "10" "76789623" "76789623" "subst" "0" "00006" "KAT6B_000048" "g.76789623G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.75029865G>A" "" "0000079566" "0" "90" "10" "76789597" "76789597" "subst" "0" "00006" "KAT6B_000050" "g.76789597G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.75029839G>C" "" "0000130191" "0" "70" "10" "76788678" "76788678" "subst" "0" "01758" "KAT6B_000051" "g.76788678G>T" "" "Trujillano et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.75028920G>T" "" "0000249460" "0" "30" "10" "76735377" "76735377" "subst" "0.0000768876" "02333" "KAT6B_000055" "g.76735377A>C" "" "" "" "KAT6B(NM_012330.3):c.1282A>C (p.N428H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281698" "0" "90" "10" "76732342" "76732342" "subst" "0" "02333" "KAT6B_000053" "g.76732342C>T" "" "" "" "KAT6B(NM_012330.3):c.1006C>T (p.R336*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281699" "0" "50" "10" "76748783" "76748783" "subst" "0" "02333" "KAT6B_000058" "g.76748783C>T" "" "" "" "KAT6B(NM_012330.3):c.2542C>T (p.L848F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281700" "0" "30" "10" "76781848" "76781859" "del" "0" "02325" "KAT6B_000060" "g.76781848_76781859del" "" "" "" "KAT6B(NM_012330.3):c.3231_3242delCGAGGAGGAGGA (p.D1077_E1080del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281701" "0" "10" "10" "76781927" "76781929" "del" "0" "02325" "KAT6B_000061" "g.76781927_76781929del" "" "" "" "KAT6B(NM_012330.3):c.3310_3312delGAA (p.E1104del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281702" "0" "10" "10" "76788679" "76788687" "del" "0" "02325" "KAT6B_000069" "g.76788679_76788687del" "" "" "" "KAT6B(NM_012330.3):c.4097_4105delAAGAGGAAG (p.E1366_E1368del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000290004" "0" "50" "10" "76780942" "76780942" "subst" "0.0000768876" "02333" "KAT6B_000059" "g.76780942T>C" "" "" "" "KAT6B(NM_012330.3):c.2920T>C (p.C974R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000290005" "0" "10" "10" "76781927" "76781929" "del" "0" "01943" "KAT6B_000061" "g.76781927_76781929del" "" "" "" "KAT6B(NM_012330.3):c.3310_3312delGAA (p.E1104del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000290008" "0" "70" "10" "76789995" "76789995" "del" "0" "02333" "KAT6B_000076" "g.76789995del" "" "" "" "KAT6B(NM_012330.3):c.5413delG (p.A1805Lfs*19)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321618" "0" "30" "10" "76602877" "76602877" "subst" "0" "02333" "KAT6B_000052" "g.76602877T>G" "" "" "" "KAT6B(NM_001256468.1):c.262T>G (p.(Phe88Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321619" "0" "30" "10" "76735218" "76735218" "subst" "0" "02333" "KAT6B_000054" "g.76735218G>A" "" "" "" "KAT6B(NM_001256468.1):c.1123G>A (p.(Gly375Ser), p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321620" "0" "30" "10" "76735534" "76735534" "subst" "0" "02333" "KAT6B_000056" "g.76735534C>T" "" "" "" "KAT6B(NM_001256468.1):c.1439C>T (p.(Ala480Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321621" "0" "30" "10" "76735563" "76735563" "subst" "0.00115331" "02333" "KAT6B_000057" "g.76735563C>T" "" "" "" "KAT6B(NM_012330.3):c.1468C>T (p.(Pro490Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321623" "0" "50" "10" "76784992" "76784992" "subst" "0.00822697" "01804" "KAT6B_000064" "g.76784992G>T" "" "" "" "KAT6B(NM_001256468.1):c.3100G>T (p.(Ala1034Ser), p.(Ala925Ser), p.(Ala1217Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321624" "0" "50" "10" "76788618" "76788618" "subst" "0" "02333" "KAT6B_000065" "g.76788618G>T" "" "" "" "KAT6B(NM_001256468.1):c.3487G>T (p.(Asp1163Tyr), p.(Asp1054Tyr), p.(Asp1346Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321626" "0" "50" "10" "76788656" "76788661" "del" "0" "01804" "KAT6B_000066" "g.76788656_76788661del" "" "" "" "KAT6B(NM_012330.3):c.4074_4079delGGAGGA (p.E1367_E1368del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321628" "0" "30" "10" "76789060" "76789060" "subst" "0.0000768876" "02333" "KAT6B_000071" "g.76789060C>T" "" "" "" "KAT6B(NM_001256468.1):c.3929C>T (p.(Ala1310Val), p.(Ala1201Val), p.(Ala1493Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321629" "0" "30" "10" "76789215" "76789215" "subst" "0.0000768876" "02333" "KAT6B_000072" "g.76789215G>A" "" "" "" "KAT6B(NM_001256468.1):c.4084G>A (p.(Val1362Ile), p.(Val1253Ile), p.(Val1545Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321630" "0" "30" "10" "76789417" "76789417" "subst" "0.00338305" "01804" "KAT6B_000073" "g.76789417G>A" "" "" "" "KAT6B(NM_012330.3):c.4835G>A (p.Arg1612His)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321631" "0" "30" "10" "76789909" "76789909" "subst" "0" "01804" "KAT6B_000074" "g.76789909C>A" "" "" "" "KAT6B(NM_012330.3):c.5327C>A (p.T1776N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321632" "0" "50" "10" "76790749" "76790749" "subst" "0.0000768876" "02333" "KAT6B_000077" "g.76790749A>G" "" "" "" "KAT6B(NM_001256468.1):c.5618A>G (p.(Tyr1873Cys), p.(Tyr1764Cys), p.(Tyr2056Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000338738" "0" "50" "10" "76729859" "76729859" "subst" "0" "02333" "KAT6B_000079" "g.76729859G>C" "" "" "" "KAT6B(NM_012330.3):c.928G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000338739" "0" "10" "10" "76732253" "76732253" "subst" "0.000539374" "02333" "KAT6B_000080" "g.76732253A>G" "" "" "" "KAT6B(NM_012330.2):c.929-12A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000338740" "0" "90" "10" "76788246" "76788246" "subst" "0" "02333" "KAT6B_000090" "g.76788246G>A" "" "" "" "KAT6B(NM_012330.2):c.3665-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000340444" "0" "30" "10" "76602990" "76602990" "subst" "0.00338305" "02333" "KAT6B_000078" "g.76602990C>T" "" "" "" "KAT6B(NM_012330.3):c.375C>T (p.=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000340445" "0" "10" "10" "76788860" "76788860" "subst" "0.024604" "02333" "KAT6B_000092" "g.76788860C>T" "" "" "" "KAT6B(NM_012330.2):c.4278C>T (p.=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000341684" "0" "90" "10" "76781789" "76781789" "subst" "0" "02333" "KAT6B_000086" "g.76781789C>T" "" "" "" "KAT6B(NM_012330.3):c.3172C>T (p.Arg1058*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000342018" "0" "30" "10" "76789417" "76789417" "subst" "0.00338305" "02327" "KAT6B_000073" "g.76789417G>A" "" "" "" "KAT6B(NM_012330.3):c.4835G>A (p.Arg1612His)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000342668" "0" "90" "10" "76732345" "76732345" "subst" "0" "02333" "KAT6B_000081" "g.76732345C>T" "" "" "" "KAT6B(NM_012330.3):c.1009C>T (p.Arg337*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000342689" "0" "70" "10" "76732366" "76732366" "subst" "0" "02333" "KAT6B_000082" "g.76732366C>T" "" "" "" "KAT6B(NM_012330.3):c.1030C>T (p.Arg344*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000343359" "0" "90" "10" "76741660" "76741660" "subst" "0" "02333" "KAT6B_000083" "g.76741660C>T" "" "" "" "KAT6B(NM_012330.3):c.2347C>T (p.Arg783*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000345051" "0" "90" "10" "76781858" "76781858" "subst" "0" "02333" "KAT6B_000087" "g.76781858G>T" "" "" "" "KAT6B(NM_012330.3):c.3241G>T (p.Glu1081*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000350305" "0" "10" "10" "76789077" "76789077" "subst" "0.024604" "02327" "KAT6B_000094" "g.76789077G>A" "" "" "" "KAT6B(NM_012330.2):c.4495G>A (p.Val1499Ile)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000351368" "0" "30" "10" "76781046" "76781046" "subst" "0" "02333" "KAT6B_000085" "g.76781046A>G" "" "" "" "KAT6B(NM_012330.3):c.3021+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000369336" "0" "70" "10" "76790384" "76790384" "del" "0" "02494" "KAT6B_000109" "g.76790384del" "" "" "" "5802delA" "" "De novo" "" "" "0" "" "" "" "" "0000369337" "0" "70" "10" "76781769" "76781769" "del" "0" "02494" "KAT6B_000108" "g.76781769del" "" "" "" "3152delG" "" "De novo" "" "" "0" "" "" "" "" "0000400747" "0" "70" "10" "76789971" "76789971" "subst" "0" "00081" "KAT6B_000016" "g.76789971C>T" "" "{PMID:[Lonardo 2017]:28857140}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400748" "0" "70" "10" "76790074" "76790074" "subst" "0" "00081" "KAT6B_000096" "g.76790074C>G" "" "{PMID:[Lundsgaard 2017 ]:28232779 }" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400752" "0" "70" "10" "76788753" "76788753" "subst" "0" "00081" "KAT6B_000099" "g.76788753G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400755" "0" "70" "10" "76784944" "76784946" "del" "0" "00081" "KAT6B_000097" "g.76784944_76784946del" "" "{PMID:[Okano 2018]:29899993 }" "" "MC_000010.11: c.3603_3606del, p.Arg1201fs" "" "De novo" "" "" "0" "" "" "" "" "0000400757" "0" "70" "10" "76790074" "76790074" "subst" "0" "00081" "KAT6B_000096" "g.76790074C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400758" "0" "70" "10" "76780346" "76780346" "subst" "0" "00081" "KAT6B_000100" "g.76780346T>A" "" "{PMID:Li 2017:28426343}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400759" "0" "70" "10" "76788753" "76788753" "subst" "0" "00081" "KAT6B_000099" "g.76788753G>T" "" "{PMID:[Vlckova et al. 2015]:26370006 }" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401437" "0" "70" "10" "76788318" "76788318" "subst" "0" "00081" "KAT6B_000101" "g.76788318C>T" "" "{PMID:[Knight 2018]: 30084242}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000401438" "0" "70" "10" "76789783" "76789792" "dup" "0" "00081" "KAT6B_000102" "g.76789783_76789792dupTGCTGCAGCA" "" "{PMID:[Niida 2017]:27696664 }" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401439" "0" "70" "10" "76789646" "76789653" "del" "0" "00081" "KAT6B_000024" "g.76789646_76789653delinsCACA" "" "{PMID:[Szakszon 2013]:23436491}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401440" "0" "70" "10" "76789971" "76789971" "subst" "0" "00081" "KAT6B_000016" "g.76789971C>T" "" "{PMID:[Szakszon 2013]:23436491}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401441" "0" "70" "10" "76741612" "76741612" "subst" "0" "00081" "KAT6B_000103" "g.76741612C>T" "" "{PMID:[Kim 2017]:28758091 }" "" "missense variant c.2292C>T p.(His767Tyr)" "Mutation inherited from father" "Not applicable" "" "" "0" "" "" "" "" "0000401442" "0" "70" "10" "76741612" "76741612" "subst" "0" "00081" "KAT6B_000103" "g.76741612C>T" "" "{PMID:[Kim 2017]:28758091}" "" "missense variant c.2292C>T p.(His767Tyr)" "" "Not applicable" "" "" "0" "" "" "" "" "0000401443" "0" "70" "10" "76741612" "76741612" "subst" "0" "00081" "KAT6B_000103" "g.76741612C>T" "" "{PMID:[Kim 2017]:28758091}" "" "missense variant c.2292C>T p.(His767Tyr)" "" "Not applicable" "" "" "0" "" "" "" "" "0000401444" "0" "70" "10" "76732381" "76732385" "del" "0" "00081" "KAT6B_000104" "g.76732381_76732385delTTAAA" "" "{PMID:[Marangi 2017]:29226580}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401445" "0" "70" "10" "76789174" "76789174" "del" "0" "00081" "KAT6B_000105" "g.76789174delA" "" "{PMID:[Radvanszky 2017]:27452416}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401446" "0" "70" "10" "76781764" "76781764" "subst" "0" "00081" "KAT6B_000026" "g.76781764G>A" "" "{PMID:[Yilmaz 2015]:26334766}" "" "c.3147G>A, p.(Pro1049Pro)" "" "De novo" "" "" "0" "" "" "" "" "0000401447" "0" "70" "10" "76781764" "76781764" "subst" "0" "00081" "KAT6B_000026" "g.76781764G>A" "" "{PMID:[Yilmaz 2015]:26334766}" "" "c.3147G>A, p.(Pro1050Pro)" "" "De novo" "" "" "0" "" "" "" "" "0000401448" "0" "70" "10" "76781764" "76781764" "subst" "0" "00081" "KAT6B_000026" "g.76781764G>A" "" "{PMID:[Yilmaz 2015]:26334766}" "" "c.3147G>A, p.(Pro1051Pro)" "" "De novo" "" "" "0" "" "" "" "" "0000401449" "0" "70" "10" "76789154" "76789154" "dup" "0" "00081" "KAT6B_000106" "g.76789154dupT" "" "{PMID:[Bashir 2017]:28696035}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401450" "0" "70" "10" "76788787" "76788788" "del" "0" "00081" "KAT6B_000107" "g.76788787_76788788delCT" "" "{PMID:[Bashir 2017]:28696035}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000454268" "0" "70" "10" "76789154" "76789155" "dup" "0" "03185" "KAT6B_000110" "g.76789154_76789155dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000540966" "0" "50" "10" "76602617" "76602617" "subst" "0" "02333" "KAT6B_000111" "g.76602617T>C" "" "" "" "KAT6B(NM_012330.3):c.2T>C (p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540967" "0" "30" "10" "76603046" "76603046" "subst" "0" "02333" "KAT6B_000112" "g.76603046A>C" "" "" "" "KAT6B(NM_001256468.1):c.431A>C (p.(Asn144Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540968" "0" "50" "10" "76735291" "76735291" "subst" "0" "02333" "KAT6B_000113" "g.76735291T>C" "" "" "" "KAT6B(NM_001256468.1):c.1196T>C (p.(Leu399Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540969" "0" "90" "10" "76735449" "76735449" "subst" "0" "02333" "KAT6B_000114" "g.76735449C>T" "" "" "" "KAT6B(NM_012330.3):c.1354C>T (p.R452*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540970" "0" "50" "10" "76735607" "76735607" "subst" "0" "02333" "KAT6B_000115" "g.76735607C>A" "" "" "" "KAT6B(NM_012330.3):c.1512C>A (p.S504R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540971" "0" "30" "10" "76735758" "76735758" "subst" "0.000922651" "02333" "KAT6B_000116" "g.76735758G>A" "" "" "" "KAT6B(NM_012330.3):c.1663G>A (p.(Gly555Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540972" "0" "30" "10" "76735809" "76735809" "subst" "0" "02333" "KAT6B_000117" "g.76735809C>T" "" "" "" "KAT6B(NM_012330.3):c.1714C>T (p.(Arg572Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540973" "0" "30" "10" "76736037" "76736037" "subst" "0" "02333" "KAT6B_000118" "g.76736037C>T" "" "" "" "KAT6B(NM_012330.3):c.1942C>T (p.(Pro648Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540974" "0" "30" "10" "76737101" "76737101" "subst" "0" "02333" "KAT6B_000119" "g.76737101A>T" "" "" "" "KAT6B(NM_001256468.1):c.1472A>T (p.(Gln491Leu), p.(Gln382Leu), p.(Gln674Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540975" "0" "90" "10" "76780910" "76780910" "subst" "0" "02333" "KAT6B_000120" "g.76780910T>A" "" "" "" "KAT6B(NM_012330.3):c.2888T>A (p.L963*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540976" "0" "30" "10" "76781848" "76781859" "del" "0" "01804" "KAT6B_000060" "g.76781848_76781859del" "" "" "" "KAT6B(NM_012330.3):c.3231_3242delCGAGGAGGAGGA (p.D1077_E1080del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540977" "0" "30" "10" "76781869" "76781880" "del" "0" "02333" "KAT6B_000121" "g.76781869_76781880del" "" "" "" "KAT6B(NM_001256468.1):c.2686_2697del (p.(Glu903_Glu906del), p.(Glu794_Glu797del), p.(Glu1086_Glu1089del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540978" "0" "30" "10" "76781872" "76781872" "subst" "0" "02333" "KAT6B_000122" "g.76781872A>G" "" "" "" "KAT6B(NM_012330.3):c.3255A>G (p.E1085=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540979" "0" "30" "10" "76781875" "76781875" "subst" "0" "02333" "KAT6B_000123" "g.76781875A>C" "" "" "" "KAT6B(NM_012330.3):c.3258A>C (p.E1086D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540980" "0" "30" "10" "76781881" "76781881" "subst" "0" "02333" "KAT6B_000124" "g.76781881A>G" "" "" "" "KAT6B(NM_012330.3):c.3264A>G (p.E1088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540981" "0" "30" "10" "76781906" "76781907" "ins" "0" "02333" "KAT6B_000125" "g.76781906_76781907insGAA" "" "" "" "KAT6B(NM_001256468.1):c.2739_2740insGAA (p.(Glu913dup), p.(Glu804dup), p.(Glu1096dup), p.(Glu921dup), p.(Glu914dup), p.(Glu812dup), p.(Glu805dup),...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540982" "0" "30" "10" "76781927" "76781929" "del" "0" "01804" "KAT6B_000061" "g.76781927_76781929del" "" "" "" "KAT6B(NM_012330.3):c.3310_3312delGAA (p.E1104del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540983" "0" "10" "10" "76781927" "76781929" "dup" "0" "02330" "KAT6B_000126" "g.76781927_76781929dup" "" "" "" "KAT6B(NM_012330.3):c.3310_3312dupGAA (p.E1104dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540984" "0" "10" "10" "76781927" "76781929" "dup" "0" "01943" "KAT6B_000126" "g.76781927_76781929dup" "" "" "" "KAT6B(NM_012330.3):c.3310_3312dupGAA (p.E1104dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540985" "0" "30" "10" "76781927" "76781929" "dup" "0" "02325" "KAT6B_000126" "g.76781927_76781929dup" "" "" "" "KAT6B(NM_012330.3):c.3310_3312dupGAA (p.E1104dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540986" "0" "30" "10" "76784808" "76784808" "subst" "0" "02333" "KAT6B_000127" "g.76784808A>G" "" "" "" "KAT6B(NM_012330.3):c.3465A>G (p.=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540987" "0" "10" "10" "76784992" "76784992" "subst" "0.00822697" "01943" "KAT6B_000064" "g.76784992G>T" "" "" "" "KAT6B(NM_001256468.1):c.3100G>T (p.(Ala1034Ser), p.(Ala925Ser), p.(Ala1217Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540988" "0" "30" "10" "76788656" "76788661" "del" "0" "02325" "KAT6B_000037" "g.76788656_76788661del" "" "" "" "KAT6B(NM_012330.3):c.4074_4079delGGAGGA (p.E1367_E1368del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540989" "0" "50" "10" "76788660" "76788661" "ins" "0" "02333" "KAT6B_000128" "g.76788660_76788661insGAAGAGGAA" "" "" "" "KAT6B(NM_001256468.1):c.3528_3529insGAAGAGGAA (p.(Glu1174_Glu1176dup), p.(Glu1065_Glu1067dup), p.(Glu1357_Glu1359dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540990" "0" "30" "10" "76788679" "76788687" "del" "0" "01804" "KAT6B_000091" "g.76788679_76788687del" "" "" "" "KAT6B(NM_012330.3):c.4097_4105delAAGAGGAAG (p.E1366_E1368del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540991" "0" "10" "10" "76788679" "76788687" "dup" "0" "02325" "KAT6B_000068" "g.76788679_76788687dup" "" "" "" "KAT6B(NM_012330.3):c.4097_4105dupAAGAGGAAG (p.E1366_E1368dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540992" "0" "30" "10" "76788679" "76788687" "dup" "0" "02326" "KAT6B_000068" "g.76788679_76788687dup" "" "" "" "KAT6B(NM_012330.3):c.4097_4105dupAAGAGGAAG (p.E1366_E1368dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540993" "0" "30" "10" "76788793" "76788793" "subst" "0" "02333" "KAT6B_000129" "g.76788793G>A" "" "" "" "KAT6B(NM_001256468.1):c.3662G>A (p.(Arg1221His), p.(Arg1112His), p.(Arg1404His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540994" "0" "30" "10" "76789006" "76789006" "subst" "0" "02333" "KAT6B_000130" "g.76789006T>G" "" "" "" "KAT6B(NM_001256468.1):c.3875T>G (p.(Met1292Arg), p.(Met1183Arg), p.(Met1475Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540995" "0" "30" "10" "76789077" "76789077" "subst" "0.024604" "01804" "KAT6B_000094" "g.76789077G>A" "" "" "" "KAT6B(NM_012330.2):c.4495G>A (p.Val1499Ile)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540996" "0" "30" "10" "76789417" "76789417" "subst" "0.00338305" "01943" "KAT6B_000073" "g.76789417G>A" "" "" "" "KAT6B(NM_012330.3):c.4835G>A (p.Arg1612His)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000540997" "0" "50" "10" "76789909" "76789909" "subst" "0" "02325" "KAT6B_000074" "g.76789909C>A" "" "" "" "KAT6B(NM_012330.3):c.5327C>A (p.T1776N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" ## 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 KAT6B ## Count = 339 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Classification}}" "0000038933" "00010305" "70" "3401" "0" "3402" "0" "c.3401_3402del" "r.(?)" "p.(Gly1134Alafs*2)" "17" "" "0000038934" "00010305" "70" "4911" "0" "4921" "0" "c.4911_4921del" "r.(?)" "p.(Val1638Alafs*27)" "18" "" "0000038935" "00010305" "70" "5424" "0" "5424" "0" "c.5424C>A" "r.(?)" "p.(Tyr1808*)" "18" "" "0000038936" "00010305" "70" "5624" "0" "5625" "0" "c.5624_5625del" "r.(?)" "p.(Gln1875Argfs*170)" "18" "" "0000038937" "00010305" "70" "5442" "0" "5445" "0" "c.5442_5445del" "r.(?)" "p.(Phe1815Alafs*8)" "18" "" "0000038938" "00010305" "70" "5209" "0" "5209" "0" "c.5209C>T" "r.(?)" "p.(Gln1737*)" "18" "" "0000038939" "00010305" "70" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "0000038940" "00010305" "70" "5115" "0" "5116" "0" "c.5115_5116del" "r.(?)" "p.(Tyr1706*)" "18" "" "0000038941" "00010305" "70" "5731" "0" "5731" "0" "c. 5731C>T" "r.(?)" "p.(Gln1911*)" "18" "" "0000038942" "00010305" "70" "5302" "0" "5302" "0" "c.5302C>T" "r.(?)" "p.(Gln1768*)" "18" "" "0000038943" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "0000038944" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "16" "" "0000038945" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(spl?)" "p.(?)" "16" "" "0000038946" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "16" "" "0000038947" "00010305" "70" "4728" "0" "4729" "0" "c.4728_4729del" "r.(?)" "p.(Arg1577Cysfs*21)" "18" "" "0000038948" "00010305" "70" "4312" "0" "4312" "0" "c.4312del" "r.(?)" "p.(Glu1438Lysfs*23)" "18" "" "0000038949" "00010305" "70" "3366" "0" "3369" "0" "c.3366_3369del" "r.(?)" "p.(Lys1124Glyfs*5)" "17" "" "0000038950" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "0000038951" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "0000038952" "00010305" "70" "3064" "0" "3064" "0" "c.3064G>T" "r.(?)" "p.(Glu1022*)" "16" "" "0000038953" "00010305" "70" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "0000038954" "00010305" "70" "3040" "0" "3040" "0" "c.3040C>T" "r.(?)" "p.(Gln1014*)" "18" "" "0000038955" "00010305" "70" "4114" "0" "4114" "0" "c.4114G>T" "r.(?)" "p.(Glu1372*)" "18" "" "0000038956" "00010305" "70" "5131" "0" "5131" "0" "c.5131del" "r.(?)" "p.(Ser1711Profs*4)" "18" "" "0000038957" "00010305" "70" "5302" "0" "5302" "0" "c.5302C>T" "r.(?)" "p.(Gln1768*)" "18" "" "0000038958" "00010305" "50" "2959" "0" "2959" "0" "c.2959T>C" "r.(?)" "p.(Trp987Arg)" "18" "" "0000038959" "00010305" "70" "4320" "0" "4321" "0" "c.4320_4321del" "r.(?)" "p.(Lys1441Glyfs*22)" "18" "" "0000038960" "00010305" "70" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "0000038961" "00010305" "70" "4074" "0" "4079" "0" "c.4074_4079del" "r.(?)" "p.(Glu1367_Glu1368del)" "18" "" "0000038962" "00010305" "70" "3598" "0" "3622" "0" "c.3598_3622dup25" "r.(?)" "p.(Gly1208Glufs*19)" "17" "" "0000038963" "00010305" "70" "3962" "0" "3963" "0" "c.3962_3963del" "r.(?)" "p.(Gln1321Argfs*20)" "18" "" "0000038964" "00010305" "70" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "0000038965" "00010305" "70" "5302" "0" "5302" "0" "c.5302C>T" "r.(?)" "p.(Gln1768*)" "18" "" "0000038966" "00010305" "99" "4405" "0" "4405" "0" "c.4405dup" "r.(?)" "p.(Ser1469Phefs*18)" "18" "" "0000038967" "00010305" "99" "4069" "0" "4069" "0" "c.4069G>T" "r.(?)" "p.(Glu1357*)" "18" "" "0000038968" "00010305" "99" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "0000038969" "00010305" "99" "5734" "0" "5734" "0" "c.5734A>T" "r.(?)" "p.(Arg1912*)" "18" "" "0000038970" "00010305" "99" "5030" "0" "5030" "0" "c.5030del" "r.(?)" "p.(Thr1677Metfs*38)" "18" "" "0000038971" "00010305" "99" "5201" "0" "5210" "0" "c.5201_5210dup" "r.(?)" "p.(Gln1737Hisfs*41)" "18" "" "0000038972" "00010305" "99" "5201" "0" "5210" "0" "c.5201_5210dup" "r.(?)" "p.(Gln1737Hisfs*41)" "18" "" "0000038973" "00010305" "99" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "0000038974" "00010305" "99" "527" "0" "527" "0" "c.527dup" "r.(?)" "p.(Tyr176*)" "3" "" "0000038975" "00010305" "99" "4911" "0" "4921" "0" "c.4911_4921del" "r.(?)" "p.(Val1638Alafs*27)" "18" "" "0000038976" "00010305" "99" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "0000038977" "00010305" "99" "3892" "0" "3892" "0" "c.3892G>T" "r.(?)" "p.(Gly1298*)" "18" "" "0000038978" "00010305" "99" "3680" "0" "3695" "0" "c.3680_3695del" "r.(?)" "p.(Asp1227Glufs*11)" "18" "" "0000038979" "00010305" "99" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "0000038980" "00010305" "99" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "0000038981" "00010305" "99" "3877" "0" "3877" "0" "c.3877A>T" "r.(?)" "p.(Lys1293*)" "18" "" "0000038982" "00010305" "99" "3773" "0" "3773" "0" "c.3773dup" "r.(?)" "p.(Trp1259Valfs*12)" "18" "" "0000038983" "00010305" "99" "621" "26310" "621" "26311" "t(10;13)(q22.3;q34)(c.621+26310_621+26311)" "r.0?" "p.0?" "3i" "" "0000038984" "00010305" "99" "3860" "0" "3863" "0" "c.3860_3863del" "r.(?)" "p.(Val1287Glufs*46)" "18" "" "0000038985" "00010305" "77" "5746" "0" "5746" "0" "c.5746C>T" "r.(?)" "p.(Gln1916*)" "18" "" "0000038986" "00010305" "99" "5064" "0" "5071" "0" "c.5064_5071delinsCACA" "r.(?)" "p.(Met1690Glufs*24)" "18" "" "0000038987" "00010305" "99" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "0000038988" "00010305" "99" "4360" "0" "4368" "0" "c.4360_4368delinsAAAAACCAAAA" "r.(?)" "p.(Glu1454Lysfs*8)" "18" "" "0000038989" "00010305" "99" "3802" "0" "3802" "0" "c.3802G>T" "r.(?)" "p.(Gly1268*)" "18" "" "0000038990" "00010305" "99" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "0000038991" "00010305" "99" "3788" "0" "3789" "0" "c.3788_3789del" "r.(?)" "p.(Lys1263Argfs*7)" "18" "" "0000038992" "00010305" "99" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "0000038993" "00010305" "99" "5370" "0" "5373" "0" "c.5370_5373dup" "r.(?)" "p.(Ile1792Glnfs*12)" "18" "" "0000038994" "00010305" "99" "3018" "0" "3018" "0" "c.3018del" "r.(?)" "p.(Glu1007Argfs*5)" "15" "" "0000079337" "00023816" "00" "-615279" "0" "1741730" "0" "c.-615279_*1736057del" "r.?" "p.?" "" "" "0000079337" "00023817" "00" "-615279" "0" "1741403" "0" "c.-615279_*1736057del" "r.?" "p.?" "" "" "0000079337" "00010305" "00" "-615279" "0" "1742279" "0" "c.-615279_*1736057del" "r.?" "p.?" "" "" "0000079432" "00023816" "00" "5324" "0" "5324" "0" "c.5324delinsC" "r.(=)" "p.(=)" "" "" "0000079432" "00023817" "00" "4997" "0" "4997" "0" "c.4997delinsC" "r.(=)" "p.(=)" "" "" "0000079432" "00010305" "00" "5873" "0" "5873" "0" "c.5873delinsC" "r.(=)" "p.(=)" "" "" "0000079553" "00023816" "00" "4492" "0" "4492" "0" "c.4492G>A" "r.(?)" "p.(Glu1498Lys)" "" "" "0000079553" "00023817" "00" "4165" "0" "4165" "0" "c.4165G>A" "r.(?)" "p.(Glu1389Lys)" "" "" "0000079553" "00010305" "00" "5041" "0" "5041" "0" "c.5041G>A" "r.(?)" "p.(Glu1681Lys)" "" "" "0000079566" "00023816" "00" "4466" "0" "4466" "0" "c.4466G>C" "r.(?)" "p.(Ser1489Thr)" "" "" "0000079566" "00023817" "00" "4139" "0" "4139" "0" "c.4139G>C" "r.(?)" "p.(Ser1380Thr)" "" "" "0000079566" "00010305" "00" "5015" "0" "5015" "0" "c.5015G>C" "r.(?)" "p.(Ser1672Thr)" "" "" "0000130191" "00023816" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Glu1183*)" "" "ACMG: 4" "0000130191" "00023817" "70" "3220" "0" "3220" "0" "c.3220G>T" "r.(?)" "p.(Glu1074*)" "" "ACMG: 4" "0000130191" "00010305" "70" "4096" "0" "4096" "0" "c.4096G>T" "r.(?)" "p.(Glu1366*)" "" "ACMG: 4" "0000249460" "00023816" "30" "1282" "0" "1282" "0" "c.1282A>C" "r.(?)" "p.(Asn428His)" "" "likely benign" "0000249460" "00023817" "30" "1117" "165" "1117" "165" "c.1117+165A>C" "r.(=)" "p.(=)" "" "likely benign" "0000249460" "00010305" "30" "1282" "0" "1282" "0" "c.1282A>C" "r.(?)" "p.(Asn428His)" "" "likely benign" "0000281698" "00023816" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336*)" "" "pathogenic" "0000281698" "00023817" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336*)" "" "pathogenic" "0000281698" "00010305" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336*)" "" "pathogenic" "0000281699" "00023816" "50" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Leu665Phe)" "" "VUS" "0000281699" "00023817" "50" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Leu556Phe)" "" "VUS" "0000281699" "00010305" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Leu848Phe)" "" "VUS" "0000281700" "00023816" "30" "2682" "0" "2693" "0" "c.2682_2693del" "r.(?)" "p.(Asp894_Glu897del)" "" "likely benign" "0000281700" "00023817" "30" "2355" "0" "2366" "0" "c.2355_2366del" "r.(?)" "p.(Asp785_Glu788del)" "" "likely benign" "0000281700" "00010305" "30" "3231" "0" "3242" "0" "c.3231_3242del" "r.(?)" "p.(Asp1077_Glu1080del)" "" "likely benign" "0000281701" "00023816" "10" "2761" "0" "2763" "0" "c.2761_2763del" "r.(?)" "p.(Glu921del)" "" "benign" "0000281701" "00023817" "10" "2434" "0" "2436" "0" "c.2434_2436del" "r.(?)" "p.(Glu812del)" "" "benign" "0000281701" "00010305" "10" "3310" "0" "3312" "0" "c.3310_3312del" "r.(?)" "p.(Glu1104del)" "" "benign" "0000281702" "00023816" "10" "3548" "0" "3556" "0" "c.3548_3556del" "r.(?)" "p.(Glu1183_Glu1185del)" "" "benign" "0000281702" "00023817" "10" "3221" "0" "3229" "0" "c.3221_3229del" "r.(?)" "p.(Glu1074_Glu1076del)" "" "benign" "0000281702" "00010305" "10" "4097" "0" "4105" "0" "c.4097_4105del" "r.(?)" "p.(Glu1366_Glu1368del)" "" "benign" "0000290004" "00023816" "50" "2371" "0" "2371" "0" "c.2371T>C" "r.(?)" "p.(Cys791Arg)" "" "VUS" "0000290004" "00023817" "50" "2044" "0" "2044" "0" "c.2044T>C" "r.(?)" "p.(Cys682Arg)" "" "VUS" "0000290004" "00010305" "50" "2920" "0" "2920" "0" "c.2920T>C" "r.(?)" "p.(Cys974Arg)" "" "VUS" "0000290005" "00023816" "10" "2761" "0" "2763" "0" "c.2761_2763del" "r.(?)" "p.(Glu921del)" "" "benign" "0000290005" "00023817" "10" "2434" "0" "2436" "0" "c.2434_2436del" "r.(?)" "p.(Glu812del)" "" "benign" "0000290005" "00010305" "10" "3310" "0" "3312" "0" "c.3310_3312del" "r.(?)" "p.(Glu1104del)" "" "benign" "0000290008" "00023816" "70" "4864" "0" "4864" "0" "c.4864del" "r.(?)" "p.(Ala1622Leufs*19)" "" "likely pathogenic" "0000290008" "00023817" "70" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Ala1513Leufs*19)" "" "likely pathogenic" "0000290008" "00010305" "70" "5413" "0" "5413" "0" "c.5413del" "r.(?)" "p.(Ala1805Leufs*19)" "" "likely pathogenic" "0000321618" "00023816" "30" "262" "0" "262" "0" "c.262T>G" "r.(?)" "p.(Phe88Val)" "" "likely benign" "0000321618" "00023817" "30" "262" "0" "262" "0" "c.262T>G" "r.(?)" "p.(Phe88Val)" "" "likely benign" "0000321618" "00010305" "30" "262" "0" "262" "0" "c.262T>G" "r.(?)" "p.(Phe88Val)" "" "likely benign" "0000321619" "00023816" "30" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Ser)" "" "likely benign" "0000321619" "00023817" "30" "1117" "6" "1117" "6" "c.1117+6G>A" "r.(=)" "p.(=)" "" "likely benign" "0000321619" "00010305" "30" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Ser)" "" "likely benign" "0000321620" "00023816" "30" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ala480Val)" "" "likely benign" "0000321620" "00023817" "30" "1117" "322" "1117" "322" "c.1117+322C>T" "r.(=)" "p.(=)" "" "likely benign" "0000321620" "00010305" "30" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ala480Val)" "" "likely benign" "0000321621" "00023816" "30" "1444" "24" "1444" "24" "c.1444+24C>T" "r.(=)" "p.(=)" "" "likely benign" "0000321621" "00023817" "30" "1117" "351" "1117" "351" "c.1117+351C>T" "r.(=)" "p.(=)" "" "likely benign" "0000321621" "00010305" "30" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Pro490Ser)" "" "likely benign" "0000321623" "00023816" "50" "3100" "0" "3100" "0" "c.3100G>T" "r.(?)" "p.(Ala1034Ser)" "" "VUS" "0000321623" "00023817" "50" "2773" "0" "2773" "0" "c.2773G>T" "r.(?)" "p.(Ala925Ser)" "" "VUS" "0000321623" "00010305" "50" "3649" "0" "3649" "0" "c.3649G>T" "r.(?)" "p.(Ala1217Ser)" "" "VUS" "0000321624" "00023816" "50" "3487" "0" "3487" "0" "c.3487G>T" "r.(?)" "p.(Asp1163Tyr)" "" "VUS" "0000321624" "00023817" "50" "3160" "0" "3160" "0" "c.3160G>T" "r.(?)" "p.(Asp1054Tyr)" "" "VUS" "0000321624" "00010305" "50" "4036" "0" "4036" "0" "c.4036G>T" "r.(?)" "p.(Asp1346Tyr)" "" "VUS" "0000321626" "00023816" "50" "3525" "0" "3530" "0" "c.3525_3530del" "r.(?)" "p.(Glu1184_Glu1185del)" "" "VUS" "0000321626" "00023817" "50" "3198" "0" "3203" "0" "c.3198_3203del" "r.(?)" "p.(Glu1075_Glu1076del)" "" "VUS" "0000321626" "00010305" "50" "4074" "0" "4079" "0" "c.4074_4079del" "r.(?)" "p.(Glu1367_Glu1368del)" "" "VUS" "0000321628" "00023816" "30" "3929" "0" "3929" "0" "c.3929C>T" "r.(?)" "p.(Ala1310Val)" "" "likely benign" "0000321628" "00023817" "30" "3602" "0" "3602" "0" "c.3602C>T" "r.(?)" "p.(Ala1201Val)" "" "likely benign" "0000321628" "00010305" "30" "4478" "0" "4478" "0" "c.4478C>T" "r.(?)" "p.(Ala1493Val)" "" "likely benign" "0000321629" "00023816" "30" "4084" "0" "4084" "0" "c.4084G>A" "r.(?)" "p.(Val1362Ile)" "" "likely benign" "0000321629" "00023817" "30" "3757" "0" "3757" "0" "c.3757G>A" "r.(?)" "p.(Val1253Ile)" "" "likely benign" "0000321629" "00010305" "30" "4633" "0" "4633" "0" "c.4633G>A" "r.(?)" "p.(Val1545Ile)" "" "likely benign" "0000321630" "00023816" "30" "4286" "0" "4286" "0" "c.4286G>A" "r.(?)" "p.(Arg1429His)" "" "likely benign" "0000321630" "00023817" "30" "3959" "0" "3959" "0" "c.3959G>A" "r.(?)" "p.(Arg1320His)" "" "likely benign" "0000321630" "00010305" "30" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Arg1612His)" "" "likely benign" "0000321631" "00023816" "30" "4778" "0" "4778" "0" "c.4778C>A" "r.(?)" "p.(Thr1593Asn)" "" "likely benign" "0000321631" "00023817" "30" "4451" "0" "4451" "0" "c.4451C>A" "r.(?)" "p.(Thr1484Asn)" "" "likely benign" "0000321631" "00010305" "30" "5327" "0" "5327" "0" "c.5327C>A" "r.(?)" "p.(Thr1776Asn)" "" "likely benign" "0000321632" "00023816" "50" "5618" "0" "5618" "0" "c.5618A>G" "r.(?)" "p.(Tyr1873Cys)" "" "VUS" "0000321632" "00023817" "50" "5291" "0" "5291" "0" "c.5291A>G" "r.(?)" "p.(Tyr1764Cys)" "" "VUS" "0000321632" "00010305" "50" "6167" "0" "6167" "0" "c.6167A>G" "r.(?)" "p.(Tyr2056Cys)" "" "VUS" "0000338738" "00023816" "50" "928" "0" "928" "0" "c.928G>C" "r.(?)" "p.(Gly310Arg)" "" "VUS" "0000338738" "00023817" "50" "928" "0" "928" "0" "c.928G>C" "r.(?)" "p.(Gly310Arg)" "" "VUS" "0000338738" "00010305" "50" "928" "0" "928" "0" "c.928G>C" "r.(?)" "p.(Gly310Arg)" "" "VUS" "0000338739" "00023816" "10" "929" "-12" "929" "-12" "c.929-12A>G" "r.(=)" "p.(=)" "" "benign" "0000338739" "00023817" "10" "929" "-12" "929" "-12" "c.929-12A>G" "r.(=)" "p.(=)" "" "benign" "0000338739" "00010305" "10" "929" "-12" "929" "-12" "c.929-12A>G" "r.(=)" "p.(=)" "" "benign" "0000338740" "00023816" "90" "3116" "-1" "3116" "-1" "c.3116-1G>A" "r.spl?" "p.?" "" "pathogenic" "0000338740" "00023817" "90" "2789" "-1" "2789" "-1" "c.2789-1G>A" "r.spl?" "p.?" "" "pathogenic" "0000338740" "00010305" "90" "3665" "-1" "3665" "-1" "c.3665-1G>A" "r.spl?" "p.?" "" "pathogenic" "0000340444" "00023816" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(=)" "" "likely benign" "0000340444" "00023817" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(=)" "" "likely benign" "0000340444" "00010305" "30" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(=)" "" "likely benign" "0000340445" "00023816" "10" "3729" "0" "3729" "0" "c.3729C>T" "r.(?)" "p.(=)" "" "benign" "0000340445" "00023817" "10" "3402" "0" "3402" "0" "c.3402C>T" "r.(?)" "p.(=)" "" "benign" "0000340445" "00010305" "10" "4278" "0" "4278" "0" "c.4278C>T" "r.(?)" "p.(=)" "" "benign" "0000341684" "00023816" "90" "2623" "0" "2623" "0" "c.2623C>T" "r.(?)" "p.(Arg875*)" "" "pathogenic" "0000341684" "00023817" "90" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Arg766*)" "" "pathogenic" "0000341684" "00010305" "90" "3172" "0" "3172" "0" "c.3172C>T" "r.(?)" "p.(Arg1058*)" "" "pathogenic" "0000342018" "00023816" "30" "4286" "0" "4286" "0" "c.4286G>A" "r.(?)" "p.(Arg1429His)" "" "likely benign" "0000342018" "00023817" "30" "3959" "0" "3959" "0" "c.3959G>A" "r.(?)" "p.(Arg1320His)" "" "likely benign" "0000342018" "00010305" "30" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Arg1612His)" "" "likely benign" "0000342668" "00023816" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "" "pathogenic" "0000342668" "00023817" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "" "pathogenic" "0000342668" "00010305" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "" "pathogenic" "0000342689" "00023816" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "likely pathogenic" "0000342689" "00023817" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "likely pathogenic" "0000342689" "00010305" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "likely pathogenic" "0000343359" "00023816" "90" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600*)" "" "pathogenic" "0000343359" "00023817" "90" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491*)" "" "pathogenic" "0000343359" "00010305" "90" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Arg783*)" "" "pathogenic" "0000345051" "00023816" "90" "2692" "0" "2692" "0" "c.2692G>T" "r.(?)" "p.(Glu898*)" "" "pathogenic" "0000345051" "00023817" "90" "2365" "0" "2365" "0" "c.2365G>T" "r.(?)" "p.(Glu789*)" "" "pathogenic" "0000345051" "00010305" "90" "3241" "0" "3241" "0" "c.3241G>T" "r.(?)" "p.(Glu1081*)" "" "pathogenic" "0000350305" "00023816" "10" "3946" "0" "3946" "0" "c.3946G>A" "r.(?)" "p.(Val1316Ile)" "" "benign" "0000350305" "00023817" "10" "3619" "0" "3619" "0" "c.3619G>A" "r.(?)" "p.(Val1207Ile)" "" "benign" "0000350305" "00010305" "10" "4495" "0" "4495" "0" "c.4495G>A" "r.(?)" "p.(Val1499Ile)" "" "benign" "0000351368" "00023816" "30" "2472" "3" "2472" "3" "c.2472+3A>G" "r.spl?" "p.?" "" "likely benign" "0000351368" "00023817" "30" "2145" "3" "2145" "3" "c.2145+3A>G" "r.spl?" "p.?" "" "likely benign" "0000351368" "00010305" "30" "3021" "3" "3021" "3" "c.3021+3A>G" "r.spl?" "p.?" "" "likely benign" "0000369336" "00010305" "70" "5802" "0" "5802" "0" "c.5802del" "r.(?)" "p.(Ala1935Profs*16)" "" "likely pathogenic" "0000369337" "00010305" "70" "3152" "0" "3152" "0" "c.3152del" "r.(?)" "p.(Ser1051Thrfs*63)" "" "likely pathogenic" "0000400747" "00023816" "00" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Arg1614*)" "" "" "0000400747" "00023817" "00" "4513" "0" "4513" "0" "c.4513C>T" "r.(?)" "p.(Arg1505*)" "" "" "0000400747" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "" "" "0000400748" "00023816" "70" "4943" "0" "4943" "0" "c.4943C>G" "r.(?)" "p.(Ser1648*)" "18" "" "0000400752" "00023816" "00" "3622" "0" "3622" "0" "c.3622G>T" "r.(?)" "p.(Glu1208*)" "" "" "0000400752" "00023817" "00" "3295" "0" "3295" "0" "c.3295G>T" "r.(?)" "p.(Glu1099*)" "" "" "0000400752" "00010305" "70" "4171" "0" "4171" "0" "c.4171G>T" "r.(?)" "p.(Glu1391*)" "" "" "0000400755" "00023816" "00" "3052" "0" "3054" "0" "c.3052_3054del" "r.(?)" "p.(Arg1018del)" "" "" "0000400755" "00023817" "00" "2725" "0" "2727" "0" "c.2725_2727del" "r.(?)" "p.(Arg909del)" "" "" "0000400755" "00010305" "70" "3601" "0" "3603" "0" "c.3601_3603del" "r.(?)" "p.(Arg1201del)" "" "" "0000400757" "00023816" "70" "4943" "0" "4943" "0" "c.4943C>G" "r.(?)" "p.(Ser1648*)" "" "" "0000400757" "00023817" "00" "4616" "0" "4616" "0" "c.4616C>G" "r.(?)" "p.(Ser1539*)" "" "" "0000400757" "00010305" "00" "5492" "0" "5492" "0" "c.5492C>G" "r.(?)" "p.(Ser1831*)" "" "" "0000400758" "00023816" "00" "2087" "0" "2087" "0" "c.2087T>A" "r.(?)" "p.(Leu696*)" "" "" "0000400758" "00023817" "00" "1760" "0" "1760" "0" "c.1760T>A" "r.(?)" "p.(Leu587*)" "" "" "0000400758" "00010305" "70" "2636" "0" "2636" "0" "c.2636T>A" "r.(?)" "p.(Leu879*)" "" "" "0000400759" "00023816" "00" "3622" "0" "3622" "0" "c.3622G>T" "r.(?)" "p.(Glu1208*)" "" "" "0000400759" "00023817" "00" "3295" "0" "3295" "0" "c.3295G>T" "r.(?)" "p.(Glu1099*)" "" "" "0000400759" "00010305" "70" "4171" "0" "4171" "0" "c.4171G>T" "r.(?)" "p.(Glu1391*)" "" "" "0000401437" "00023816" "00" "3187" "0" "3187" "0" "c.3187C>T" "r.(?)" "p.(Gln1063*)" "" "" "0000401437" "00023817" "00" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Gln954*)" "" "" "0000401437" "00010305" "70" "3736" "0" "3736" "0" "c.3736C>T" "r.(?)" "p.(Gln1246*)" "" "" "0000401438" "00023816" "00" "4652" "0" "4661" "0" "c.4652_4661dupTGCTGCAGCA" "r.(?)" "p.(Gln1554Hisfs*41)" "" "" "0000401438" "00023817" "00" "4325" "0" "4334" "0" "c.4325_4334dupTGCTGCAGCA" "r.(?)" "p.(Gln1445Hisfs*41)" "" "" "0000401438" "00010305" "70" "5201" "0" "5210" "0" "c.5201_5210dupTGCTGCAGCA" "r.(?)" "p.(Gln1737Hisfs*41)" "" "" "0000401439" "00023816" "00" "4515" "0" "4522" "0" "c.4515_4522delinsCACA" "r.(?)" "p.(Met1507Glufs*24)" "" "" "0000401439" "00023817" "00" "4188" "0" "4195" "0" "c.4188_4195delinsCACA" "r.(?)" "p.(Met1398Glufs*24)" "" "" "0000401439" "00010305" "70" "5064" "0" "5071" "0" "c.5064_5071delinsCACA" "r.(?)" "p.(Met1690Glufs*24)" "" "" "0000401440" "00023816" "00" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Arg1614*)" "" "" "0000401440" "00023817" "00" "4513" "0" "4513" "0" "c.4513C>T" "r.(?)" "p.(Arg1505*)" "" "" "0000401440" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "" "" "0000401441" "00023816" "00" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(His584Tyr)" "" "" "0000401441" "00023817" "00" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(His475Tyr)" "" "" "0000401441" "00010305" "70" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(His767Tyr)" "" "" "0000401442" "00023816" "00" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(His584Tyr)" "" "" "0000401442" "00023817" "00" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(His475Tyr)" "" "" "0000401442" "00010305" "70" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(His767Tyr)" "" "" "0000401443" "00023816" "00" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(His584Tyr)" "" "" "0000401443" "00023817" "00" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(His475Tyr)" "" "" "0000401443" "00010305" "70" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(His767Tyr)" "" "" "0000401444" "00023816" "00" "1045" "0" "1049" "0" "c.1045_1049delTTAAA" "r.(?)" "p.(Leu349Alafs*9)" "" "" "0000401444" "00023817" "00" "1045" "0" "1049" "0" "c.1045_1049delTTAAA" "r.(?)" "p.(Leu349Alafs*9)" "" "" "0000401444" "00010305" "70" "1045" "0" "1049" "0" "c.1045_1049delTTAAA" "r.(?)" "p.(Leu349Alafs*9)" "" "" "0000401445" "00023816" "00" "4043" "0" "4043" "0" "c.4043delA" "r.(?)" "p.(Asn1348Thrfs*18)" "" "" "0000401445" "00023817" "00" "3716" "0" "3716" "0" "c.3716delA" "r.(?)" "p.(Asn1239Thrfs*18)" "" "" "0000401445" "00010305" "70" "4592" "0" "4592" "0" "c.4592delA" "r.(?)" "p.(Asn1531Thrfs*18)" "" "" "0000401446" "00023816" "00" "2598" "0" "2598" "0" "c.2598G>A" "r.(=)" "p.(=)" "" "" "0000401446" "00023817" "00" "2271" "0" "2271" "0" "c.2271G>A" "r.(=)" "p.(=)" "" "" "0000401446" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "" "" "0000401447" "00023816" "00" "2598" "0" "2598" "0" "c.2598G>A" "r.(=)" "p.(=)" "" "" "0000401447" "00023817" "00" "2271" "0" "2271" "0" "c.2271G>A" "r.(=)" "p.(=)" "" "" "0000401447" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "" "" "0000401448" "00023816" "00" "2598" "0" "2598" "0" "c.2598G>A" "r.(=)" "p.(=)" "" "" "0000401448" "00023817" "00" "2271" "0" "2271" "0" "c.2271G>A" "r.(=)" "p.(=)" "" "" "0000401448" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "" "" "0000401449" "00023816" "00" "4023" "0" "4023" "0" "c.4023dupT" "r.(?)" "p.(Thr1342Tyrfs*16)" "" "" "0000401449" "00023817" "00" "3696" "0" "3696" "0" "c.3696dupT" "r.(?)" "p.(Thr1233Tyrfs*16)" "" "" "0000401449" "00010305" "70" "4572" "0" "4572" "0" "c.4572dupT" "r.(?)" "p.(Thr1525Tyrfs*16)" "" "" "0000401450" "00023816" "00" "3656" "0" "3657" "0" "c.3656_3657delCT" "r.(?)" "p.(Ser1219Cysfs*5)" "" "" "0000401450" "00023817" "00" "3329" "0" "3330" "0" "c.3329_3330delCT" "r.(?)" "p.(Ser1110Cysfs*5)" "" "" "0000401450" "00010305" "70" "4205" "0" "4206" "0" "c.4205_4206delCT" "r.(?)" "p.(Ser1402Cysfs*5)" "" "" "0000454268" "00010305" "70" "4572" "0" "4573" "0" "c.4572_4573dup" "r.(?)" "p.(Thr1525Ilefs*25)" "18" "Likely pathogenic" "0000540966" "00023816" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "" "VUS" "0000540966" "00023817" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "" "VUS" "0000540966" "00010305" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.?" "" "VUS" "0000540967" "00023816" "30" "431" "0" "431" "0" "c.431A>C" "r.(?)" "p.(Asn144Thr)" "" "likely benign" "0000540967" "00023817" "30" "431" "0" "431" "0" "c.431A>C" "r.(?)" "p.(Asn144Thr)" "" "likely benign" "0000540967" "00010305" "30" "431" "0" "431" "0" "c.431A>C" "r.(?)" "p.(Asn144Thr)" "" "likely benign" "0000540968" "00023816" "50" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Leu399Ser)" "" "VUS" "0000540968" "00023817" "50" "1117" "79" "1117" "79" "c.1117+79T>C" "r.(=)" "p.(=)" "" "VUS" "0000540968" "00010305" "50" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Leu399Ser)" "" "VUS" "0000540969" "00023816" "90" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452*)" "" "pathogenic" "0000540969" "00023817" "90" "1117" "237" "1117" "237" "c.1117+237C>T" "r.(=)" "p.(=)" "" "pathogenic" "0000540969" "00010305" "90" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Arg452*)" "" "pathogenic" "0000540970" "00023816" "50" "1444" "68" "1444" "68" "c.1444+68C>A" "r.(=)" "p.(=)" "" "VUS" "0000540970" "00023817" "50" "1117" "395" "1117" "395" "c.1117+395C>A" "r.(=)" "p.(=)" "" "VUS" "0000540970" "00010305" "50" "1512" "0" "1512" "0" "c.1512C>A" "r.(?)" "p.(Ser504Arg)" "" "VUS" "0000540971" "00023816" "30" "1444" "219" "1444" "219" "c.1444+219G>A" "r.(=)" "p.(=)" "" "likely benign" "0000540971" "00023817" "30" "1117" "546" "1117" "546" "c.1117+546G>A" "r.(=)" "p.(=)" "" "likely benign" "0000540971" "00010305" "30" "1663" "0" "1663" "0" "c.1663G>A" "r.(?)" "p.(Gly555Arg)" "" "likely benign" "0000540972" "00023816" "30" "1444" "270" "1444" "270" "c.1444+270C>T" "r.(=)" "p.(=)" "" "likely benign" "0000540972" "00023817" "30" "1117" "597" "1117" "597" "c.1117+597C>T" "r.(=)" "p.(=)" "" "likely benign" "0000540972" "00010305" "30" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Cys)" "" "likely benign" "0000540973" "00023816" "30" "1444" "498" "1444" "498" "c.1444+498C>T" "r.(=)" "p.(=)" "" "likely benign" "0000540973" "00023817" "30" "1117" "825" "1117" "825" "c.1117+825C>T" "r.(=)" "p.(=)" "" "likely benign" "0000540973" "00010305" "30" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Pro648Ser)" "" "likely benign" "0000540974" "00023816" "30" "1472" "0" "1472" "0" "c.1472A>T" "r.(?)" "p.(Gln491Leu)" "" "likely benign" "0000540974" "00023817" "30" "1145" "0" "1145" "0" "c.1145A>T" "r.(?)" "p.(Gln382Leu)" "" "likely benign" "0000540974" "00010305" "30" "2021" "0" "2021" "0" "c.2021A>T" "r.(?)" "p.(Gln674Leu)" "" "likely benign" "0000540975" "00023816" "90" "2339" "0" "2339" "0" "c.2339T>A" "r.(?)" "p.(Leu780*)" "" "pathogenic" "0000540975" "00023817" "90" "2012" "0" "2012" "0" "c.2012T>A" "r.(?)" "p.(Leu671*)" "" "pathogenic" "0000540975" "00010305" "90" "2888" "0" "2888" "0" "c.2888T>A" "r.(?)" "p.(Leu963*)" "" "pathogenic" "0000540976" "00023816" "30" "2682" "0" "2693" "0" "c.2682_2693del" "r.(?)" "p.(Asp894_Glu897del)" "" "likely benign" "0000540976" "00023817" "30" "2355" "0" "2366" "0" "c.2355_2366del" "r.(?)" "p.(Asp785_Glu788del)" "" "likely benign" "0000540976" "00010305" "30" "3231" "0" "3242" "0" "c.3231_3242del" "r.(?)" "p.(Asp1077_Glu1080del)" "" "likely benign" "0000540977" "00023816" "30" "2703" "0" "2714" "0" "c.2703_2714del" "r.(?)" "p.(Glu903_Glu906del)" "" "likely benign" "0000540977" "00023817" "30" "2376" "0" "2387" "0" "c.2376_2387del" "r.(?)" "p.(Glu794_Glu797del)" "" "likely benign" "0000540977" "00010305" "30" "3252" "0" "3263" "0" "c.3252_3263del" "r.(?)" "p.(Glu1086_Glu1089del)" "" "likely benign" "0000540978" "00023816" "30" "2706" "0" "2706" "0" "c.2706A>G" "r.(?)" "p.(=)" "" "likely benign" "0000540978" "00023817" "30" "2379" "0" "2379" "0" "c.2379A>G" "r.(?)" "p.(=)" "" "likely benign" "0000540978" "00010305" "30" "3255" "0" "3255" "0" "c.3255A>G" "r.(?)" "p.(=)" "" "likely benign" "0000540979" "00023816" "30" "2709" "0" "2709" "0" "c.2709A>C" "r.(?)" "p.(Glu903Asp)" "" "likely benign" "0000540979" "00023817" "30" "2382" "0" "2382" "0" "c.2382A>C" "r.(?)" "p.(Glu794Asp)" "" "likely benign" "0000540979" "00010305" "30" "3258" "0" "3258" "0" "c.3258A>C" "r.(?)" "p.(Glu1086Asp)" "" "likely benign" "0000540980" "00023816" "30" "2715" "0" "2715" "0" "c.2715A>G" "r.(?)" "p.(=)" "" "likely benign" "0000540980" "00023817" "30" "2388" "0" "2388" "0" "c.2388A>G" "r.(?)" "p.(=)" "" "likely benign" "0000540980" "00010305" "30" "3264" "0" "3264" "0" "c.3264A>G" "r.(?)" "p.(=)" "" "likely benign" "0000540981" "00023816" "30" "2740" "0" "2741" "0" "c.2740_2741insGAA" "r.(?)" "p.(Glu914delinsGlyLys)" "" "likely benign" "0000540981" "00023817" "30" "2413" "0" "2414" "0" "c.2413_2414insGAA" "r.(?)" "p.(Glu805delinsGlyLys)" "" "likely benign" "0000540981" "00010305" "30" "3289" "0" "3290" "0" "c.3289_3290insGAA" "r.(?)" "p.(Glu1097delinsGlyLys)" "" "likely benign" "0000540982" "00023816" "30" "2761" "0" "2763" "0" "c.2761_2763del" "r.(?)" "p.(Glu921del)" "" "likely benign" "0000540982" "00023817" "30" "2434" "0" "2436" "0" "c.2434_2436del" "r.(?)" "p.(Glu812del)" "" "likely benign" "0000540982" "00010305" "30" "3310" "0" "3312" "0" "c.3310_3312del" "r.(?)" "p.(Glu1104del)" "" "likely benign" "0000540983" "00023816" "10" "2761" "0" "2763" "0" "c.2761_2763dup" "r.(?)" "p.(Glu921dup)" "" "benign" "0000540983" "00023817" "10" "2434" "0" "2436" "0" "c.2434_2436dup" "r.(?)" "p.(Glu812dup)" "" "benign" "0000540983" "00010305" "10" "3310" "0" "3312" "0" "c.3310_3312dup" "r.(?)" "p.(Glu1104dup)" "" "benign" "0000540984" "00023816" "10" "2761" "0" "2763" "0" "c.2761_2763dup" "r.(?)" "p.(Glu921dup)" "" "benign" "0000540984" "00023817" "10" "2434" "0" "2436" "0" "c.2434_2436dup" "r.(?)" "p.(Glu812dup)" "" "benign" "0000540984" "00010305" "10" "3310" "0" "3312" "0" "c.3310_3312dup" "r.(?)" "p.(Glu1104dup)" "" "benign" "0000540985" "00023816" "30" "2761" "0" "2763" "0" "c.2761_2763dup" "r.(?)" "p.(Glu921dup)" "" "likely benign" "0000540985" "00023817" "30" "2434" "0" "2436" "0" "c.2434_2436dup" "r.(?)" "p.(Glu812dup)" "" "likely benign" "0000540985" "00010305" "30" "3310" "0" "3312" "0" "c.3310_3312dup" "r.(?)" "p.(Glu1104dup)" "" "likely benign" "0000540986" "00023816" "30" "2916" "0" "2916" "0" "c.2916A>G" "r.(?)" "p.(=)" "" "likely benign" "0000540986" "00023817" "30" "2589" "0" "2589" "0" "c.2589A>G" "r.(?)" "p.(=)" "" "likely benign" "0000540986" "00010305" "30" "3465" "0" "3465" "0" "c.3465A>G" "r.(?)" "p.(=)" "" "likely benign" "0000540987" "00023816" "10" "3100" "0" "3100" "0" "c.3100G>T" "r.(?)" "p.(Ala1034Ser)" "" "benign" "0000540987" "00023817" "10" "2773" "0" "2773" "0" "c.2773G>T" "r.(?)" "p.(Ala925Ser)" "" "benign" "0000540987" "00010305" "10" "3649" "0" "3649" "0" "c.3649G>T" "r.(?)" "p.(Ala1217Ser)" "" "benign" "0000540988" "00023816" "30" "3525" "0" "3530" "0" "c.3525_3530del" "r.(?)" "p.(Glu1184_Glu1185del)" "" "likely benign" "0000540988" "00023817" "30" "3198" "0" "3203" "0" "c.3198_3203del" "r.(?)" "p.(Glu1075_Glu1076del)" "" "likely benign" "0000540988" "00010305" "30" "4074" "0" "4079" "0" "c.4074_4079del" "r.(?)" "p.(Glu1367_Glu1368del)" "" "likely benign" "0000540989" "00023816" "50" "3529" "0" "3530" "0" "c.3529_3530insGAAGAGGAA" "r.(?)" "p.(Glu1177delinsGlyArgGlyLys)" "" "VUS" "0000540989" "00023817" "50" "3202" "0" "3203" "0" "c.3202_3203insGAAGAGGAA" "r.(?)" "p.(Glu1068delinsGlyArgGlyLys)" "" "VUS" "0000540989" "00010305" "50" "4078" "0" "4079" "0" "c.4078_4079insGAAGAGGAA" "r.(?)" "p.(Glu1360delinsGlyArgGlyLys)" "" "VUS" "0000540990" "00023816" "30" "3548" "0" "3556" "0" "c.3548_3556del" "r.(?)" "p.(Glu1183_Glu1185del)" "" "likely benign" "0000540990" "00023817" "30" "3221" "0" "3229" "0" "c.3221_3229del" "r.(?)" "p.(Glu1074_Glu1076del)" "" "likely benign" "0000540990" "00010305" "30" "4097" "0" "4105" "0" "c.4097_4105del" "r.(?)" "p.(Glu1366_Glu1368del)" "" "likely benign" "0000540991" "00023816" "10" "3548" "0" "3556" "0" "c.3548_3556dup" "r.(?)" "p.(Glu1183_Glu1185dup)" "" "benign" "0000540991" "00023817" "10" "3221" "0" "3229" "0" "c.3221_3229dup" "r.(?)" "p.(Glu1074_Glu1076dup)" "" "benign" "0000540991" "00010305" "10" "4097" "0" "4105" "0" "c.4097_4105dup" "r.(?)" "p.(Glu1366_Glu1368dup)" "" "benign" "0000540992" "00023816" "30" "3548" "0" "3556" "0" "c.3548_3556dup" "r.(?)" "p.(Glu1183_Glu1185dup)" "" "likely benign" "0000540992" "00023817" "30" "3221" "0" "3229" "0" "c.3221_3229dup" "r.(?)" "p.(Glu1074_Glu1076dup)" "" "likely benign" "0000540992" "00010305" "30" "4097" "0" "4105" "0" "c.4097_4105dup" "r.(?)" "p.(Glu1366_Glu1368dup)" "" "likely benign" "0000540993" "00023816" "30" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221His)" "" "likely benign" "0000540993" "00023817" "30" "3335" "0" "3335" "0" "c.3335G>A" "r.(?)" "p.(Arg1112His)" "" "likely benign" "0000540993" "00010305" "30" "4211" "0" "4211" "0" "c.4211G>A" "r.(?)" "p.(Arg1404His)" "" "likely benign" "0000540994" "00023816" "30" "3875" "0" "3875" "0" "c.3875T>G" "r.(?)" "p.(Met1292Arg)" "" "likely benign" "0000540994" "00023817" "30" "3548" "0" "3548" "0" "c.3548T>G" "r.(?)" "p.(Met1183Arg)" "" "likely benign" "0000540994" "00010305" "30" "4424" "0" "4424" "0" "c.4424T>G" "r.(?)" "p.(Met1475Arg)" "" "likely benign" "0000540995" "00023816" "30" "3946" "0" "3946" "0" "c.3946G>A" "r.(?)" "p.(Val1316Ile)" "" "likely benign" "0000540995" "00023817" "30" "3619" "0" "3619" "0" "c.3619G>A" "r.(?)" "p.(Val1207Ile)" "" "likely benign" "0000540995" "00010305" "30" "4495" "0" "4495" "0" "c.4495G>A" "r.(?)" "p.(Val1499Ile)" "" "likely benign" "0000540996" "00023816" "30" "4286" "0" "4286" "0" "c.4286G>A" "r.(?)" "p.(Arg1429His)" "" "likely benign" "0000540996" "00023817" "30" "3959" "0" "3959" "0" "c.3959G>A" "r.(?)" "p.(Arg1320His)" "" "likely benign" "0000540996" "00010305" "30" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Arg1612His)" "" "likely benign" "0000540997" "00023816" "50" "4778" "0" "4778" "0" "c.4778C>A" "r.(?)" "p.(Thr1593Asn)" "" "VUS" "0000540997" "00023817" "50" "4451" "0" "4451" "0" "c.4451C>A" "r.(?)" "p.(Thr1484Asn)" "" "VUS" "0000540997" "00010305" "50" "5327" "0" "5327" "0" "c.5327C>A" "r.(?)" "p.(Thr1776Asn)" "" "VUS" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 82 "{{screeningid}}" "{{variantid}}" "0000018467" "0000038933" "0000018469" "0000038935" "0000018470" "0000038936" "0000018472" "0000038938" "0000018475" "0000038941" "0000018476" "0000038942" "0000018477" "0000038943" "0000018478" "0000038944" "0000018479" "0000038945" "0000018480" "0000038946" "0000018481" "0000038947" "0000018482" "0000038948" "0000018483" "0000038949" "0000018484" "0000038950" "0000018485" "0000038951" "0000018486" "0000038952" "0000018488" "0000038954" "0000018489" "0000038955" "0000018490" "0000038956" "0000018491" "0000038957" "0000018493" "0000038959" "0000018496" "0000038962" "0000018497" "0000038963" "0000018498" "0000038964" "0000018499" "0000038965" "0000018500" "0000038966" "0000018501" "0000038967" "0000018502" "0000038968" "0000018503" "0000038969" "0000018504" "0000038970" "0000018505" "0000038971" "0000018506" "0000038972" "0000018507" "0000038973" "0000018508" "0000038974" "0000018509" "0000038975" "0000018510" "0000038976" "0000018511" "0000038977" "0000018512" "0000038978" "0000018513" "0000038979" "0000018514" "0000038980" "0000018515" "0000038981" "0000018516" "0000038982" "0000018517" "0000038983" "0000018518" "0000038984" "0000018519" "0000038985" "0000018520" "0000038986" "0000018521" "0000038987" "0000018522" "0000038988" "0000018523" "0000038989" "0000018524" "0000038990" "0000018525" "0000038991" "0000018526" "0000038992" "0000018527" "0000038993" "0000018528" "0000038994" "0000050357" "0000079337" "0000050452" "0000079432" "0000050573" "0000079553" "0000050586" "0000079566" "0000081105" "0000130191" "0000165605" "0000369336" "0000165606" "0000369337" "0000177876" "0000400747" "0000177879" "0000400755" "0000177880" "0000400752" "0000177883" "0000400757" "0000177884" "0000400758" "0000177885" "0000400759" "0000177993" "0000401437" "0000177994" "0000401438" "0000177995" "0000401439" "0000177996" "0000401440" "0000177997" "0000401441" "0000177998" "0000401442" "0000177999" "0000401443" "0000178000" "0000401444" "0000178001" "0000401445" "0000178002" "0000401446" "0000178003" "0000401447" "0000178004" "0000401448" "0000178005" "0000401449" "0000178007" "0000401450" "0000219421" "0000454268"