### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCL11A) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "BCL11A" "B-cell CLL/lymphoma 11A (zinc finger protein)" "2" "p16.1" "unknown" "NG_011968.1" "UD_132118503219" "" "http://www.LOVD.nl/BCL11A" "" "1" "13221" "53335" "606557" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/BCL11A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-07-28 16:41:53" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00003337" "BCL11A" "transcript variant 1" "003" "NM_022893.3" "" "NP_075044.2" "" "" "" "-228" "5718" "2508" "60780633" "60684329" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "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" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06462" "-" "Dias-Logan syndrome" "AD" "617101" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "BCL11A" "06462" ## Individuals ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050592" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "affected, unknown family members" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050636" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050658" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00078879" "" "" "" "1" "" "01604" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "De novo, individual 1" "F" "" "" "" "0" "" "" "" "" "00078880" "" "" "" "1" "" "01604" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "De novo, Individual 2" "M" "" "" "" "0" "" "" "" "" "00078881" "" "" "" "1" "" "01604" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "De novo, Individual 3" "F" "" "" "" "0" "" "" "" "" "00078882" "" "" "" "1" "" "01604" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "De novo, Individual 4" "F" "" "" "" "0" "" "" "" "" "00078883" "" "" "" "1" "" "01604" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "De novo, Individual 5" "F" "" "" "" "0" "" "" "" "" "00078884" "" "" "" "1" "" "01604" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "De novo, Individual 6" "F" "" "" "" "0" "" "" "" "" "00078885" "" "" "" "1" "" "01604" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "De novo, Individual 7" "F" "" "" "" "0" "" "" "" "" "00078886" "" "" "" "1" "" "01604" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "De novo, Individual 8" "F" "" "" "" "0" "" "" "" "" "00078887" "" "" "" "1" "" "01604" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "De novo, Individual 9" "M" "" "" "" "0" "" "" "" "" "00133220" "" "" "" "1" "" "00006" "{PMID:De Rubeis 2014:25363760}, {PMID:Dias 2016:27453576}" "" "F" "" "" "" "0" "" "" "" "25533962-Pat10" "00133221" "" "" "" "1" "" "00006" "{PMID:Iossifov 2012:22542183}, {PMID:Dias 2016:27453576}" "" "M" "" "" "" "0" "" "" "" "27453576-Ind11" "00164723" "" "" "" "1" "" "01807" "" "" "F" "" "(Germany)" "" "0" "" "" "" "" "00206820" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00276055" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" "" "00374540" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4670" "00392551" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "149008" "00434742" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat84" "00434743" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat85" "00434744" "" "" "" "1" "" "00006" "{PMID:Chen 2022:34906496}" "" "" "" "" "" "0" "" "" "" "Pat86" "00438586" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0035" "00440384" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2653.1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00050592" "00198" "00050636" "00198" "00050658" "00198" "00078879" "00139" "00078880" "00139" "00078881" "00139" "00078882" "00139" "00078883" "00139" "00078884" "00139" "00078885" "00139" "00078886" "00139" "00078887" "00139" "00133220" "00138" "00133221" "00138" "00164723" "00198" "00206820" "00198" "00276055" "00198" "00374540" "00198" "00392551" "00139" "00434742" "05611" "00434743" "05611" "00434744" "05611" "00438586" "06906" "00440384" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00198, 05611, 06462, 06906 ## Count = 24 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037204" "00198" "00050592" "00006" "Unknown" "" "hypermobility of interphalangeal joints, bilateral coxa valga, valgus foot deformity, global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000037248" "00198" "00050636" "00006" "Isolated (sporadic)" "" "global developmental delay, delayed gross motor development, delayed speech and language development, anteriorly placed anus, frontal upsweep of hair, localized hirsutism, thick lower lip vermilion, strabismus, sparse eyebrow, joint laxity" "" "" "" "" "" "" "" "" "" "" "" "0000037270" "00198" "00050658" "00006" "Isolated (sporadic)" "" "intellectual disability, truncal ataxia, recurrent hand flapping, autism, sleep disturbance" "" "" "" "" "" "" "" "" "" "" "" "0000058637" "00139" "00078879" "01604" "Isolated (sporadic)" "" "no microcephaly (-HP:0000252), downslanting palpebral fissures (HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), everted lower lip (HP:0000232), anteverted nose (HP:0000463), no mircoretrognathia (-HP:0000308), frontal upsweep (HP:0000308), cleft uvula (HP:0000193), no external ear anomalies (-HP:0000356), joint hypermobility (HP:0001382), no short stature (-HP:0004322), broad based gait abnormalities (HP:0002136), anteriorly placed anus (HP:0001545), dyspraxia (HP:0011098), no autism spectrum disorder (-HP:0000729), repetitive behaviour (HP:0000733), emotional lability (HP:0000712), no sleep disturbance (-HP:0002360); mild/moderate intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000058638" "00139" "00078880" "01604" "Isolated (sporadic)" "" "no microcephaly (-HP:0000252), no downslanting palpebral fissures (-HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), no mircoretrognathia (-HP:0000308), coarse hair (HP:0002208), no external ear anomalies (-HP:0000356), no joint hypermobility (-HP:0001382), no short stature (-HP:0004322), broad based gait abnormalities (HP:0002136), truncal ataxia (HP:0002078), autism spectrum disorder (HP:0000729), repetitive behaviour (HP:0000733), recurrent hand flapping (HP:0100023), sleep disturbance (HP:0002360); moderate/severe intellectual disability (HP:0001249)" "" "" "" "" "" "" "" "" "" "" "" "0000058639" "00139" "00078881" "01604" "Isolated (sporadic)" "" "microcephaly (HP:0000252), no downslanting palpebral fissures (-HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), no everted lower lip (HP:0000232), anteverted nose (HP:0000463), full tip nose (HP:?), no mircoretrognathia (-HP:0000308), unilateral (left) flat helix, prominent anti-crus (HP:?), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), fetal pads (HP:?), bilateral coxa valga (HP:0010665), valgus foot deformity (HP:0008081), no autism spectrum disorder (-HP:0000729), repetitive behaviour (HP:0000733), sensory abnormality (HP:0011730), self-injurious behaviour (HP:0100716), sleep disturbance (HP:0002360); moderate intellectual disability (HP:0002342)" "" "" "" "" "" "" "" "" "" "" "" "0000058640" "00139" "00078882" "01604" "Isolated (sporadic)" "" "microcephaly (HP:0000252), downslanting palpebral fissures (HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), blue sclera in infancy (HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), everted lower lip (HP:0000232), no abnormality of the nose (-HP:0000366), no mircoretrognathia (-HP:0000308), small mouth (HP:0000160), high palate (HP:0000218), pointed chin (HP:0000307), bilateral microtia (HP:0008551), asymmetric low-set ears (HP:0000369), with overfolded and cupped helix (HP:0000396), attached earlobes (HP:?), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), no autism spectrum disorder (-HP:0000729), repetitive behaviour (HP:0000733), recurrent hand flapping (HP:0100023), biting (HP:?), sleep disturbance (HP:0002360); moderate intellectual disability (HP:0002342)" "" "" "" "" "" "" "" "" "" "" "" "0000058641" "00139" "00078883" "01604" "Isolated (sporadic)" "" "microcephaly (HP:0000252), no downslanting palpebral fissures (-HP:0000494), epicanthus (HP:0000286), strabismus (HP:0000486), blue sclera in infancy (HP:0000592), flat midface (HP:0040199), thin upper lip (HP:0000219), no everted lower lip (-HP:0000232), no abnormality of the nose (-HP:0000366), no mircoretrognathia (-HP:0000308), small mouth (HP:0000160), plagiocephaly (HP:0001357), synophrys (HP:0000664), low-set ears (HP:0000369), with overfolded helixes (HP:0000396), attached earlobes (HP:?), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), hernia repair (HP:?), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342)" "" "" "" "" "" "" "" "" "" "" "" "0000058642" "00139" "00078884" "01604" "Isolated (sporadic)" "" "microcephaly (HP:0000252), blue sclera in infancy (HP:0000592), retrognathia (HP:0000278), short stature (HP:0004322), congenital hip dislocation (HP:0001374), delayed bone age (HP:0002750)" "" "" "" "" "" "" "" "" "" "" "" "0000058643" "00139" "00078885" "01604" "Isolated (sporadic)" "" "microcephaly (HP:0000252), downslanting palpebral fissures (HP:0000494), epicanthus (HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), no flat midface (-HP:0040199), no thin upper lip (-HP:0000219), everted lower lip (HP:0000232), full tip nose (HP:?), no mircoretrognathia (-HP:0000308), large tip of the nose (HP:?), broad bridge (HP:0000431), flared eyebrows (HP:0011229), telecanthus (HP:0000506), thick overfolded helixes (HP:0000396), joint hypermobility (HP:0001382), short stature (HP:0004322), no gait abnormalities (-HP:0001288), gastroesophageal reflux (HP:0002020), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342)" "" "" "" "" "" "" "" "" "" "" "" "0000058644" "00139" "00078886" "01604" "Isolated (sporadic)" "" "no microcephaly (-HP:0000252), downslanting palpebral fissures (HP:0000494), no epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), no flat midface (-HP:0040199), thin upper lip (-HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), full tip nose (HP:?), retrognathia (HP:0000278), large tip of the nose (HP:?), high palate (HP:0000218), no external ear anomalies (-HP:0000356), joint hypermobility (HP:0001382), no short stature (-HP:0004322), no gait abnormalities (-HP:0001288), large 2nd metacarpals (HP:?), scoliosis (HP:0002650), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), anxiety (HP:0000739), eating disorder (HP:?), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342)" "" "" "" "" "" "" "" "" "" "" "" "0000058645" "00139" "00078887" "01604" "Isolated (sporadic)" "" "no microcephaly (-HP:0000252), no downslanting palpebral fissures (-HP:0000494), epicanthus (-HP:0000286), strabismus (HP:0000486), no blue sclera in infancy (-HP:0000592), flat midface (HP:0040199), thin upper lip (-HP:0000219), everted lower lip (HP:0000232), abnormality of the nares (HP:0005288), full tip nose (HP:?), micrognathia (HP:0000347), high nasal bridge (HP:0000426), dysplastic ears (HP:0000377 ), posteriorly rotated ears (HP:0000358), joint hypermobility (HP:0001382), no short stature (-HP:0004322), ataxia gait (HP:0002066), pectus excavatum (HP:0000767), no autism spectrum disorder (-HP:0000729), no repetitive behaviour (-HP:0000733), no sleep disturbance (-HP:0002360); moderate intellectual disability (HP:0002342)" "" "" "" "" "" "" "" "" "" "" "" "0000105980" "00138" "00133220" "00006" "Unknown" "" "autism, severe intellectual disability; 6y-speaks 2 words" "" "" "" "" "" "" "" "" "" "" "" "0000105981" "00138" "00133221" "00006" "Unknown" "" "autism" "" "" "" "" "" "" "" "" "" "" "" "0000129762" "00198" "00164723" "01807" "Unknown" "" "Intellectual disability, mild (HP:0001256); Epileptic spasms (HP:0011097); Short stature (HP:0004322)" "" "" "" "" "" "" "" "" "" "" "" "0000154609" "00198" "00206820" "01807" "Unknown" "" "HP:0001263 (Global developmental delay)" "" "" "" "" "" "" "" "" "" "" "" "0000210611" "00198" "00276055" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Small for gestational age (HP:0001518); Rudimentary postaxial polydactyly of hands (HP:0005676); Congenital microcephaly (HP:0011451); Elevated serum creatine kinase (HP:0003236); Telecanthus (HP:0000506); Epicanthus (HP:0000286); Almond-shaped palpebral fissure (HP:0007874); Inverted nipples (HP:0003186); Dandy-Walker malformation (HP:0001305)" "" "" "" "" "" "" "" "" "" "" "" "0000269750" "00198" "00374540" "00006" "Familial, autosomal dominant" "" "cognitive deficiency, global developmental delay, delayed speech, intellectual disability, broad facies and obesity" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000285798" "00139" "00392551" "01164" "Unknown" "06y" "Delayed speech and language development, Mild microcephaly, Alternating esotropia, Poor motor coordination, Mild global developmental delay" "" "" "" "" "" "" "" "" "" "" "" "0000324991" "05611" "00434742" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324992" "05611" "00434743" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000324993" "05611" "00434744" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental dealy" "" "0000328489" "06906" "00438586" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000330294" "00198" "00440384" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Dias-Logan syndrome (MIM #617101)" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 24 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050537" "00050592" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050581" "00050636" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050603" "00050658" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000079067" "00078879" "1" "01604" "01604" "2016-07-26 21:33:04" "" "" "IHC;PCR;SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000079068" "00078880" "1" "01604" "01604" "2016-07-26 21:48:49" "" "" "IHC;PCR;SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000079069" "00078881" "1" "01604" "01604" "2016-07-26 21:52:45" "" "" "IHC;PCR;SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000079070" "00078882" "1" "01604" "01604" "2016-07-26 22:09:06" "" "" "IHC;PCR;SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000079071" "00078883" "1" "01604" "01604" "2016-07-26 22:14:26" "" "" "IHC;PCR;SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000079072" "00078884" "1" "01604" "01604" "2016-07-26 22:20:31" "" "" "IHC;PCR;SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000079073" "00078885" "1" "01604" "01604" "2016-07-26 22:26:32" "" "" "IHC;PCR;SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000079074" "00078886" "1" "01604" "01604" "2016-07-26 22:30:54" "" "" "IHC;PCR;SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000079075" "00078887" "1" "01604" "01604" "2016-07-26 22:37:55" "" "" "IHC;PCR;SEQ;SEQ-NG;SEQ-NG-I;Western" "DNA;RNA" "" "" "0000134053" "00133220" "1" "00006" "00006" "2017-11-12 21:52:41" "" "" "SEQ" "DNA" "" "" "0000134054" "00133221" "1" "00006" "00006" "2017-11-12 22:25:50" "" "" "SEQ" "DNA" "" "" "0000165590" "00164723" "1" "01807" "01807" "2018-06-05 19:09:31" "" "" "SEQ" "DNA" "" "" "0000207854" "00206820" "1" "01807" "01807" "2018-11-14 14:33:31" "" "" "SEQ" "DNA" "" "" "0000277202" "00276055" "1" "01807" "01807" "2020-01-24 11:03:09" "" "" "SEQ" "DNA" "" "" "0000375734" "00374540" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000393798" "00392551" "1" "01164" "01164" "2021-11-23 10:38:30" "" "" "SEQ-NG-I" "DNA" "" "" "0000436214" "00434742" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436215" "00434743" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000436216" "00434744" "1" "00006" "00006" "2023-04-07 12:06:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440068" "00438586" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000441869" "00440384" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000050537" "BCL11A" "0000050581" "BCL11A" "0000050603" "BCL11A" "0000079067" "BCL11A" "0000079068" "BCL11A" "0000079069" "BCL11A" "0000079070" "BCL11A" "0000079071" "BCL11A" "0000079072" "BCL11A" "0000079073" "BCL11A" "0000079074" "BCL11A" "0000079075" "BCL11A" "0000134053" "BCL11A" "0000134054" "BCL11A" "0000375734" "BCL11A" "0000393798" "BCL11A" ## 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 = 55 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000079517" "0" "90" "2" "60773293" "60773293" "subst" "0" "00006" "BCL11A_000023" "g.60773293G>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.60546158G>T" "" "pathogenic" "" "0000079561" "0" "90" "2" "60773352" "60773352" "subst" "0" "00006" "BCL11A_000022" "g.60773352T>G" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.60546217T>G" "" "pathogenic" "" "0000079583" "0" "90" "2" "60773348" "60773348" "subst" "0" "00006" "BCL11A_000021" "g.60773348C>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.60546213C>A" "" "pathogenic" "" "0000126797" "1" "90" "2" "60773352" "60773352" "subst" "0" "01604" "BCL11A_000022" "g.60773352T>G" "" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "" "" "" "De novo" "" "" "0" "" "" "g.60546217T>G" "" "pathogenic" "" "0000126798" "1" "90" "2" "60773348" "60773348" "subst" "0" "01604" "BCL11A_000021" "g.60773348C>A" "" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "" "" "" "De novo" "" "" "0" "" "" "g.60546213C>A" "" "pathogenic" "" "0000126799" "1" "90" "2" "60773293" "60773293" "subst" "0" "01604" "BCL11A_000023" "g.60773293G>T" "" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "" "" "" "De novo" "" "" "0" "" "" "g.60546158G>T" "" "pathogenic" "" "0000126800" "1" "90" "2" "60689518" "60689518" "subst" "0" "01604" "BCL11A_000024" "g.60689518G>A" "" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "" "" "" "De novo" "" "" "0" "" "" "g.60462383G>A" "" "pathogenic" "" "0000126801" "1" "90" "2" "60688012" "60688013" "del" "0" "01604" "BCL11A_000025" "g.60688012_60688013del" "" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "" "2035_2037delinsC" "" "De novo" "" "" "0" "" "" "g.60460877_60460878del" "" "pathogenic" "" "0000126802" "1" "90" "2" "60773337" "60773337" "subst" "0" "01604" "BCL11A_000026" "g.60773337G>A" "" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "" "" "" "De novo" "" "" "0" "" "" "g.60546202G>A" "" "pathogenic" "" "0000126803" "1" "90" "2" "60773298" "60773298" "subst" "0" "01604" "BCL11A_000027" "g.60773298C>A" "" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "" "" "" "De novo" "" "" "0" "" "" "g.60546163C>A" "" "pathogenic" "" "0000126804" "1" "90" "2" "60688503" "60688507" "dup" "0" "01604" "BCL11A_000028" "g.60688503_60688507dup" "" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "" "1545delinsGGCTTC" "" "De novo" "" "" "0" "" "" "g.60461368_60461372dup" "" "pathogenic" "" "0000126805" "1" "90" "2" "60688274" "60688275" "ins" "0" "01604" "BCL11A_000029" "g.60688274_60688275insCTGAGCCACCG" "" "{PMID:Dias 2016:27453576}, {DOI:Dias 2016:10.1016/j.ajhg.2016.05.030}" "" "" "" "De novo" "" "" "0" "" "" "g.60461139_60461140insCTGAGCCACCG" "" "pathogenic" "" "0000223720" "0" "90" "2" "60688722" "60688722" "del" "0" "00006" "BCL11A_000030" "g.60688722del" "" "{PMID:De Rubeis 2014:25363760}, {PMID:Dias 2016:27453576}" "" "c.1325_1325de" "" "Unknown" "" "" "0" "" "" "g.60461587del" "" "pathogenic" "" "0000223721" "0" "90" "2" "60689260" "60689260" "dup" "0" "00006" "BCL11A_000031" "g.60689260dup" "" "{PMID:Iossifov 2012:22542183}, {PMID:Dias 2016:27453576}" "" "792_793insC" "" "De novo" "" "" "0" "" "" "g.60462125dup" "" "pathogenic" "" "0000248517" "0" "10" "2" "60687959" "60687959" "subst" "0.700477" "02325" "BCL11A_000033" "g.60687959A>G" "" "" "" "BCL11A(NM_022893.4):c.2088T>C (p.S696=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60460824A>G" "" "benign" "" "0000250496" "0" "70" "2" "60780404" "60780404" "subst" "0" "02329" "BCL11A_000037" "g.60780404A>C" "" "" "" "BCL11A(NM_022893.4):c.2T>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60553269A>C" "" "likely pathogenic" "" "0000260372" "0" "90" "2" "60689522" "60689522" "subst" "0" "02329" "BCL11A_000035" "g.60689522G>T" "" "" "" "BCL11A(NM_022893.4):c.525C>A (p.C175*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60462387G>T" "" "pathogenic" "" "0000327020" "0" "50" "2" "60688631" "60688631" "subst" "0" "01804" "BCL11A_000034" "g.60688631G>C" "" "" "" "BCL11A(NM_022893.3):c.1416C>G (p.(Ser472Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60461496G>C" "" "VUS" "" "0000346247" "0" "50" "2" "60687835" "60687835" "subst" "0" "02327" "BCL11A_000038" "g.60687835C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60460700C>T" "" "VUS" "" "0000369315" "0" "90" "2" "60688975" "60688975" "del" "0" "01807" "BCL11A_000039" "g.60688975del" "" "" "" "1078delC" "" "Unknown" "" "" "0" "" "" "g.60461840del" "" "pathogenic" "" "0000437561" "0" "70" "2" "60780346" "60780351" "del" "0" "01807" "BCL11A_000040" "g.60780346_60780351delinsTTATTGGGCAA" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60553211_60553216delinsTTATTGGGCAA" "" "likely pathogenic" "" "0000516506" "0" "30" "2" "60679808" "60679808" "dup" "0" "02325" "BCL11A_000041" "g.60679808dup" "" "" "" "BCL11A(NM_001363864.1):c.2281-5dup, BCL11A(NM_018014.4):c.2231-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60452673dup" "" "likely benign" "" "0000516507" "0" "70" "2" "60688594" "60688594" "subst" "0" "02327" "BCL11A_000042" "g.60688594C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60461459C>A" "" "likely pathogenic" "" "0000516510" "0" "50" "2" "60773199" "60773199" "subst" "0" "01804" "BCL11A_000045" "g.60773199G>T" "" "" "" "BCL11A(NM_018014.3):c.292C>A (p.(Pro98Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60546064G>T" "" "VUS" "" "0000631946" "0" "90" "2" "60773121" "60773121" "subst" "0" "01807" "BCL11A_000046" "g.60773121G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.60545986G>A" "" "pathogenic" "" "0000688833" "0" "90" "2" "60689253" "60689253" "del" "0" "01943" "BCL11A_000047" "g.60689253del" "" "" "" "BCL11A(NM_022893.3):c.794delT (p.L265Rfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718914" "0" "70" "2" "60689489" "60689489" "subst" "0" "02329" "BCL11A_000044" "g.60689489C>A" "" "" "" "BCL11A(NM_022893.4):c.558G>T (p.L186F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000787085" "0" "90" "2" "60687539" "60780405" "del" "0" "00006" "BCL11A_000048" "g.(?_60687539)_(60780405_?)del" "" "{PMID:Ganapathy 2019:31069529}" "" "chr2:60687539-?_60780405+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000800760" "0" "50" "2" "60688350" "60688350" "subst" "4.20822E-6" "02325" "BCL11A_000049" "g.60688350A>C" "" "" "" "BCL11A(NM_022893.4):c.1697T>G (p.L566R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000824616" "0" "70" "2" "60773307" "60773307" "del" "0" "01164" "BCL11A_000050" "g.60773307del" "" "" "" "" "ACMG: PVS1, PM2_SUP" "Germline" "?" "" "0" "" "" "g.60546172del" "" "likely pathogenic (dominant)" "ACMG" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000842133" "0" "90" "2" "60688975" "60688975" "dup" "0" "03779" "BCL11A_000051" "g.60688975dup" "" "" "" "" "" "CLASSIFICATION record" "" "rs768799046" "0" "" "" "" "" "pathogenic" "" "0000858626" "0" "30" "2" "60688739" "60688739" "subst" "0.00154261" "01943" "BCL11A_000052" "g.60688739G>A" "" "" "" "BCL11A(NM_022893.3):c.1308C>T (p.V436=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911769" "0" "70" "2" "60689253" "60689254" "del" "0" "02327" "BCL11A_000053" "g.60689253_60689254del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911770" "0" "50" "2" "60773339" "60773339" "subst" "0" "02327" "BCL11A_000054" "g.60773339C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000922573" "0" "70" "2" "60773221" "60773221" "subst" "0" "00006" "BCL11A_000057" "g.60773221G>C" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.60546086G>C" "" "likely pathogenic (dominant)" "ACMG" "0000922574" "0" "90" "2" "60689532" "60689539" "del" "0" "00006" "BCL11A_000056" "g.60689532_60689539del" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PVS1, PM2, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.60462397_60462404del" "" "pathogenic (dominant)" "ACMG" "0000922575" "0" "90" "2" "60688703" "60688703" "del" "0" "00006" "BCL11A_000055" "g.60688703del" "" "{PMID:Chen 2022:34906496}" "" "" "ACMG PVS1, PS2, PM2, PP4" "De novo" "" "" "0" "" "" "g.60461568del" "" "pathogenic (dominant)" "ACMG" "0000936509" "0" "50" "2" "60320001" "62035000" "dup" "0" "00006" "PEX13_000020" "g.60320001_62035000dup" "" "{PMID:Hamdan 2017:29100083}" "" "" "" "De novo" "" "" "0" "" "" "g.60092866_61807865dup" "" "VUS" "" "0000939811" "0" "70" "2" "60773337" "60773337" "subst" "0" "00006" "BCL11A_000026" "g.60773337G>A" "" "{PMID:Nambot 2018:29095811}" "" "NM_018014.3:c.154C>T" "" "De novo" "" "" "0" "" "" "g.60546202G>A" "" "likely pathogenic (dominant)" "" "0000975383" "0" "30" "2" "60679808" "60679808" "dup" "0" "01804" "BCL11A_000041" "g.60679808dup" "" "" "" "BCL11A(NM_001363864.1):c.2281-5dup, BCL11A(NM_018014.4):c.2231-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975384" "0" "30" "2" "60688122" "60688122" "subst" "9.61281E-5" "01804" "BCL11A_000058" "g.60688122A>C" "" "" "" "BCL11A(NM_022893.4):c.1925T>G (p.(Phe642Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975385" "0" "30" "2" "60779945" "60779945" "subst" "0" "01804" "BCL11A_000059" "g.60779945C>A" "" "" "" "BCL11A(NM_022893.4):c.55+406G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992970" "0" "50" "2" "60688320" "60688320" "subst" "0" "01804" "BCL11A_000060" "g.60688320G>A" "" "" "" "BCL11A(NM_022893.3):c.1727C>T (p.(Ala576Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992971" "0" "30" "2" "60688549" "60688549" "subst" "0" "01804" "BCL11A_000061" "g.60688549C>T" "" "" "" "BCL11A(NM_022893.3):c.1498G>A (p.(Glu500Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992972" "0" "50" "2" "60688601" "60688601" "subst" "8.46468E-6" "01804" "BCL11A_000062" "g.60688601G>C" "" "" "" "BCL11A(NM_022893.3):c.1446C>G (p.(Asn482Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992973" "0" "50" "2" "60689322" "60689322" "subst" "0" "01804" "BCL11A_000063" "g.60689322C>T" "" "" "" "BCL11A(NM_022893.3):c.725G>A (p.(Arg242Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992974" "0" "50" "2" "60689424" "60689424" "subst" "8.12163E-6" "01804" "BCL11A_000064" "g.60689424G>A" "" "" "" "BCL11A(NM_022893.3):c.623C>T (p.(Thr208Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001016069" "0" "90" "2" "60689253" "60689253" "del" "0" "03779" "BCL11A_000047" "g.60689253del" "" "" "" "" "" "CLASSIFICATION record" "" "rs1676346981" "0" "" "" "" "" "pathogenic" "" "0001024665" "0" "50" "2" "60679735" "60679735" "subst" "0" "02325" "BCL11A_000065" "g.60679735C>G" "" "" "" "BCL11A(NM_018014.4):c.2297G>C (p.G766A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024666" "0" "50" "2" "60687537" "60687537" "subst" "0" "02325" "BCL11A_000066" "g.60687537C>A" "" "" "" "BCL11A(NM_022893.4):c.*2G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033425" "0" "30" "2" "60688464" "60688464" "subst" "0.000126197" "01804" "BCL11A_000067" "g.60688464C>A" "" "" "" "BCL11A(NM_022893.4):c.1583G>T (p.(Ser528Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033426" "0" "50" "2" "60688586" "60688591" "dup" "0" "01804" "BCL11A_000068" "g.60688586_60688591dup" "" "" "" "BCL11A(NM_022893.4):c.1461_1466dup (p.(Glu488_Glu489dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001063444" "0" "30" "2" "60688502" "60688502" "subst" "0.000382104" "02325" "BCL11A_000070" "g.60688502G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001063445" "0" "50" "2" "60688975" "60688975" "dup" "0" "02325" "BCL11A_000051" "g.60688975dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes BCL11A ## Count = 55 "{{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}}" "0000079517" "00003337" "90" "198" "0" "198" "0" "c.198C>A" "r.(?)" "p.(His66Gln)" "2" "0000079561" "00003337" "90" "139" "0" "139" "0" "c.139A>C" "r.(?)" "p.(Thr47Pro)" "2" "0000079583" "00003337" "90" "143" "0" "143" "0" "c.143G>T" "r.(?)" "p.(Cys48Phe)" "2" "0000126797" "00003337" "90" "139" "0" "139" "0" "c.139A>C" "r.(?)" "p.(Thr47Pro)" "2" "0000126798" "00003337" "90" "143" "0" "143" "0" "c.143G>T" "r.(?)" "p.(Cys48Phe)" "2" "0000126799" "00003337" "90" "198" "0" "198" "0" "c.198C>A" "r.(?)" "p.(His66Gln)" "2" "0000126800" "00003337" "90" "529" "0" "529" "0" "c.529C>T" "r.(?)" "p.(Gln177*)" "4" "0000126801" "00003337" "90" "2035" "0" "2036" "0" "c.2035_2036del" "r.(?)" "p.(Ser679Glnfs*47)" "4" "0000126802" "00003337" "90" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Gln52*)" "2" "0000126803" "00003337" "90" "193" "0" "193" "0" "c.193G>T" "r.(?)" "p.(Glu65*)" "2" "0000126804" "00003337" "90" "1540" "0" "1544" "0" "c.1540_1544dup" "r.(?)" "p.(Phe515Leufs*5)" "4" "0000126805" "00003337" "90" "1775" "0" "1776" "0" "c.1775_1776insTGGCTCAGCGG" "r.(?)" "p.(Glu593Glyfs*9)" "4" "0000223720" "00003337" "90" "1325" "0" "1325" "0" "c.1325del" "r.(?)" "p.(Leu442Profs*37)" "4" "0000223721" "00003337" "90" "793" "0" "793" "0" "c.793dup" "r.(?)" "p.(Leu265Profs*3)" "4" "0000248517" "00003337" "10" "2088" "0" "2088" "0" "c.2088T>C" "r.(?)" "p.(Ser696=)" "" "0000250496" "00003337" "70" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000260372" "00003337" "90" "525" "0" "525" "0" "c.525C>A" "r.(?)" "p.(Cys175Ter)" "" "0000327020" "00003337" "50" "1416" "0" "1416" "0" "c.1416C>G" "r.(?)" "p.(Ser472Arg)" "" "0000346247" "00003337" "50" "2212" "0" "2212" "0" "c.2212G>A" "r.(?)" "p.(Gly738Ser)" "" "0000369315" "00003337" "90" "1078" "0" "1078" "0" "c.1078del" "r.(?)" "p.(Leu360Serfs*61)" "" "0000437561" "00003337" "70" "55" "0" "55" "5" "c.55_55+5delinsTTGCCCAATAA" "r.spl" "p.?" "" "0000516506" "00003337" "30" "10241" "0" "10241" "0" "c.*7733dup" "r.(?)" "p.(=)" "" "0000516507" "00003337" "70" "1453" "0" "1453" "0" "c.1453G>T" "r.(?)" "p.(Glu485Ter)" "" "0000516510" "00003337" "50" "292" "0" "292" "0" "c.292C>A" "r.(?)" "p.(Pro98Thr)" "" "0000631946" "00003337" "90" "370" "0" "370" "0" "c.370C>T" "r.(?)" "p.(Gln124*)" "" "0000688833" "00003337" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Leu265ArgfsTer15)" "" "0000718914" "00003337" "70" "558" "0" "558" "0" "c.558G>T" "r.(?)" "p.(Leu186Phe)" "" "0000787085" "00003337" "90" "-1" "0" "2509" "0" "c.(?_-1)_(*1_?)del" "r.?" "p.?" "_1_4_" "0000800760" "00003337" "50" "1697" "0" "1697" "0" "c.1697T>G" "r.(?)" "p.(Leu566Arg)" "" "0000824616" "00003337" "70" "184" "0" "184" "0" "c.184del" "r.(?)" "p.(Ile62Phefs*16)" "" "0000829418" "00003337" "50" "-1300776" "0" "8388607" "0" "c.-1300776_*33087131dup" "r.0?" "p.0?" "" "0000842133" "00003337" "90" "1078" "0" "1078" "0" "c.1078dup" "r.(?)" "p.(Leu360ProfsTer212)" "" "0000858626" "00003337" "30" "1308" "0" "1308" "0" "c.1308C>T" "r.(?)" "p.(Val436=)" "" "0000911769" "00003337" "70" "793" "0" "794" "0" "c.793_794del" "r.(?)" "p.(Leu265Valfs*2)" "" "0000911770" "00003337" "50" "152" "0" "152" "0" "c.152G>T" "r.(?)" "p.(Cys51Phe)" "" "0000922573" "00003337" "70" "270" "0" "270" "0" "c.270C>G" "r.(?)" "p.(Ile90Met)" "2" "0000922574" "00003337" "90" "512" "0" "519" "0" "c.512_519del" "r.(?)" "p.(Thr171AsnfsTer63)" "4" "0000922575" "00003337" "90" "1345" "0" "1345" "0" "c.1345del" "r.(?)" "p.(Glu449AsnfsTer30)" "4" "0000936509" "00003337" "50" "0" "0" "0" "0" "c.-228_*3210{2}" "r.?" "p.?" "_1" "0000939811" "00003337" "70" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Gln52*)" "" "0000975383" "00003337" "30" "10241" "0" "10241" "0" "c.*7733dup" "r.(?)" "p.(=)" "" "0000975384" "00003337" "30" "1925" "0" "1925" "0" "c.1925T>G" "r.(?)" "p.(Phe642Cys)" "" "0000975385" "00003337" "30" "55" "406" "55" "406" "c.55+406G>T" "r.(=)" "p.(=)" "" "0000992970" "00003337" "50" "1727" "0" "1727" "0" "c.1727C>T" "r.(?)" "p.(Ala576Val)" "" "0000992971" "00003337" "30" "1498" "0" "1498" "0" "c.1498G>A" "r.(?)" "p.(Glu500Lys)" "" "0000992972" "00003337" "50" "1446" "0" "1446" "0" "c.1446C>G" "r.(?)" "p.(Asn482Lys)" "" "0000992973" "00003337" "50" "725" "0" "725" "0" "c.725G>A" "r.(?)" "p.(Arg242Lys)" "" "0000992974" "00003337" "50" "623" "0" "623" "0" "c.623C>T" "r.(?)" "p.(Thr208Ile)" "" "0001016069" "00003337" "90" "794" "0" "794" "0" "c.794del" "r.(?)" "p.(Leu265ArgfsTer15)" "" "0001024665" "00003337" "50" "10312" "0" "10312" "0" "c.*7804G>C" "r.(=)" "p.(=)" "" "0001024666" "00003337" "50" "2510" "0" "2510" "0" "c.*2G>T" "r.(=)" "p.(=)" "" "0001033425" "00003337" "30" "1583" "0" "1583" "0" "c.1583G>T" "r.(?)" "p.(Ser528Ile)" "" "0001033426" "00003337" "50" "1461" "0" "1466" "0" "c.1461_1466dup" "r.(?)" "p.(Glu488_Glu489dup)" "" "0001063444" "00003337" "30" "1545" "0" "1545" "0" "c.1545C>T" "r.(?)" "p.(=)" "" "0001063445" "00003337" "50" "1078" "0" "1078" "0" "c.1078dup" "r.(?)" "p.(Leu360Profs*212)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 24 "{{screeningid}}" "{{variantid}}" "0000050537" "0000079517" "0000050581" "0000079561" "0000050603" "0000079583" "0000079067" "0000126797" "0000079068" "0000126798" "0000079069" "0000126799" "0000079070" "0000126800" "0000079071" "0000126801" "0000079072" "0000126805" "0000079073" "0000126804" "0000079074" "0000126802" "0000079075" "0000126803" "0000134053" "0000223720" "0000134054" "0000223721" "0000165590" "0000369315" "0000207854" "0000437561" "0000277202" "0000631946" "0000375734" "0000787085" "0000393798" "0000824616" "0000436214" "0000922573" "0000436215" "0000922574" "0000436216" "0000922575" "0000440068" "0000936509" "0000441869" "0000939811"