### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DLL1) # 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}}" "DLL1" "delta-like 1 (Drosophila)" "6" "q13-q22.33" "unknown" "NG_027940.1" "UD_132118318376" "" "https://www.LOVD.nl/DLL1" "" "1" "2908" "28514" "606582" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/DLL1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-03-26 08:42:33" "00006" "2026-02-06 11:55:49" ## 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}}" "00006479" "DLL1" "delta-like 1 (Drosophila)" "001" "NM_005618.3" "" "NP_005609.3" "" "" "" "-470" "2840" "2172" "170599697" "170591294" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00212" "SCZD" "schizophrenia (SCZD)" "AD" "181500" "" "" "" "00006" "2013-09-24 21:08:12" "00006" "2021-12-10 21:51:32" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05914" "NEDBAS" "neurodevelopmental disorder with nonspecific brain abnormalities, with/without seizures (NEDBAS)" "AD" "618709" "" "" "" "00006" "2021-03-26 08:43:38" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DLL1" "05914" ## Individuals ## Do not remove or alter this header ## ## Count = 22 "{{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}}" "00261164" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam1" "00261165" "" "" "" "4" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents/relatives" "F" "" "" "" "0" "" "" "" "Fam2PatI2 (mother)" "00261166" "" "" "00261165" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "M" "" "" "" "0" "" "" "" "Fam2PatII1" "00261167" "" "" "00261165" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "M" "" "" "" "0" "" "" "" "Fam2PatII2" "00261168" "" "" "00261165" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "F" "" "" "" "0" "" "" "" "Fam2PatII4" "00261169" "" "" "" "2" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, affected father/son, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam3PatII1 (son)" "00261170" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "son" "M" "" "" "" "0" "" "" "" "Fam4" "00261171" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam5" "00261172" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam6" "00261173" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam7" "00261174" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam8" "00261175" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam9" "00261176" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, affected fetus (33+2w gestation), unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam10" "00261177" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "Fam11" "00261178" "" "" "" "1" "" "00006" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "Fam12" "00359563" "" "" "" "1" "" "03746" "" "" "F" "no" "Italy" "" "" "" "" "" "" "00359564" "" "" "" "1" "" "03746" "" "" "F" "no" "Italy" "" "0" "" "" "" "" "00359565" "" "" "" "1" "" "03746" "" "" "F" "?" "Italy" "" "0" "" "" "" "" "00385133" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "181606" "00449871" "" "" "" "1" "" "04653" "" "" "M" "" "" "" "0" "" "" "" "" "00451698" "" "" "" "1" "" "03544" "" "" "M" "-" "- (not applicable)" "" "" "" "" "white" "" "00458109" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 22 "{{individualid}}" "{{diseaseid}}" "00261164" "05162" "00261165" "05162" "00261166" "05162" "00261167" "05162" "00261168" "05162" "00261169" "05162" "00261170" "05162" "00261171" "05162" "00261172" "05162" "00261173" "05162" "00261174" "05162" "00261175" "05162" "00261176" "05162" "00261177" "05162" "00261178" "05162" "00359563" "00198" "00359564" "00198" "00359565" "00198" "00385133" "05914" "00449871" "00212" "00451698" "00198" "00458109" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00212, 05162, 05914 ## Count = 22 "{{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}}" "0000199670" "05162" "00261164" "00006" "Isolated (sporadic)" "3y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); no stereotypic behavior (-HP:0000733); no seizures (-HP:0001250); muscular hypotonia (HP:0001252); ataxia (HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); transient neonatal hyperbilirubinemia, feeding difficulty in infancy" "" "" "" "" "" "" "" "" "" "" "" "0000199671" "05162" "00261165" "00006" "Familial, autosomal dominant" "" "developmental delay/intellectual disability (HP:0012758/HP:0001249);" "" "" "" "" "" "" "" "" "" "" "" "0000199672" "05162" "00261166" "00006" "Familial, autosomal dominant" "4y" "no developmental delay (-HP:0012758), no intellectual disability (-HP:0001249); autism spectrum disorder (HP:0000729); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); hydrocephalus (HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); megacisterna magna; sacral dimple" "" "" "" "" "" "" "" "" "" "" "" "0000199673" "05162" "00261167" "00006" "Familial, autosomal dominant" "5y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); apraxia" "" "" "" "" "" "" "" "" "" "" "" "0000199674" "05162" "00261168" "00006" "Familial, autosomal dominant" "2y4m" "no developmental delay (-HP:0012758), no intellectual disability (-HP:0001249); no autism spectrum disorder (-HP:0000729); abnormal brain MRI (HP:0012443); no ventriculomegaly (-HP:0002119); hydrocephalus (HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; facial dysmorphism (HP:0000271); bilateral single palmar crease" "" "" "" "" "" "" "" "" "" "" "" "0000199675" "05162" "00261169" "00006" "Familial, autosomal dominant" "8y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); attention deficit hyperactivity disorder (HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); ataxia (HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); severe with compression of the overlying cortex; thin/streched; no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); thin brainstem, small cerebellum; abnormal prenatal brain imaging; horacic lordosis, thoracolumbar scoliosis; no microcephaly (-HP:0000252); macrocephaly (HP:0000256); no facial dysmorphism (-HP:0000271); mild cerebral palsy; hypoplasia of external genitalia; mild neonatal hyperbilirubinemia" "" "" "" "" "" "" "" "" "" "" "" "0000199676" "05162" "00261170" "00006" "Isolated (sporadic)" "16y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); no muscular hypotonia (-HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); no ventriculomegaly (-HP:0002119); no hydrocephalus (-HP:0000238); mildly short and thick; subtle cortical dysplasia (HP:0002539); no migration defect (-HP:0002269); no abnormal prenatal brain imaging; kyphosis, mild scoliosis; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); Tourette\'s, a mood disorder, oppositional defiant disorder, dysfunction voiding of urine, atypical nevus of cheek; persistent hyperbilirubinemia" "" "" "" "" "" "" "" "" "" "" "" "0000199677" "05162" "00261171" "00006" "Isolated (sporadic)" "2y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); no seizures (-HP:0001250); no muscular hypotonia (-HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); mild ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); mild dysplastic; mild cortical dysplasia (HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; scoliosis, kyphosis, hemivertebra L2, asymmetry S1 vertebra; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); gallsone in infancy; recurrent infections; multifocal syringomyelia; aggressive behavior" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199678" "05162" "00261172" "00006" "Isolated (sporadic)" "2y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); no seizures (-HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); mild ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); mild dysplastic; no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); relatively large brain size; no abnormal prenatal brain imaging; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); episodic upward eye movement, EEG normal" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199679" "05162" "00261173" "00006" "Isolated (sporadic)" "9y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); no stereotypic behavior (-HP:0000733); no seizures (-HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); no abnormal prenatal brain imaging; microcephaly (HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); small joint hypermobility" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199680" "05162" "00261174" "00006" "Isolated (sporadic)" "7y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); abnormal corpus callosum (HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; mild scoliosis; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271); strabism, exotropia, sleep apnea; deep set eyes, long stright nose, flat malar, self-stimulating behavior" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199681" "05162" "00261175" "00006" "Isolated (sporadic)" "35y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); no muscular hypotonia (-HP:0001252); ataxia (HP:0001251); abnormal brain MRI (HP:0012443); mild; no hydrocephalus (-HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); periventricular nodular heterotopia; no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); no facial dysmorphism (-HP:0000271); depression" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199682" "05162" "00261176" "00006" "Isolated (sporadic)" "<0d" "; abnormal brain MRI (HP:0012443); ventriculomegaly (HP:0002119); no hydrocephalus (-HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); abnormal prenatal brain imaging; no abnormal vertebrae (-HP:0003468); no microcephaly (-HP:0000252); no macrocephaly (-HP:0000256); facial dysmorphism (HP:0000271);" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199683" "05162" "00261177" "00006" "Isolated (sporadic)" "8y" "developmental delay/intellectual disability (HP:0012758/HP:0001249); no autism spectrum disorder (-HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); no stereotypic behavior (-HP:0000733); seizures (HP:0001250); no muscular hypotonia (-HP:0001252); no ataxia (-HP:0001251); abnormal brain MRI (HP:0012443); no ventriculomegaly (-HP:0002119); no hydrocephalus (-HP:0000238); mildly short and dysplastic; subtle cortical dysplasia (HP:0002539); no migration defect (-HP:0002269); mildly small pons; no abnormal prenatal brain imaging; no facial dysmorphism (-HP:0000271);" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000199684" "05162" "00261178" "00006" "Isolated (sporadic)" "3y1m" "developmental delay/intellectual disability (HP:0012758/HP:0001249); autism spectrum disorder (HP:0000729); no attention deficit hyperactivity disorder (-HP:0007018); stereotypic behavior (HP:0000733); seizures (HP:0001250); muscular hypotonia (HP:0001252); ataxia (HP:0001251); no abnormal brain MRI (-HP:0012443); no ventriculomegaly (-HP:0002119); no hydrocephalus (-HP:0000238); normal corpus callosum (-HP:0001273); no cortical dysplasia (-HP:0002539); no migration defect (-HP:0002269); -; no abnormal prenatal brain imaging; microcephaly (HP:0000252); no macrocephaly (-HP:0000256); no facial dysmorphism (-HP:0000271); horseshoe kidney on prenatal ultrasound; transient neonatal hyperbilirubinemia" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000254818" "00198" "00359563" "03746" "Familial, autosomal dominant" "10y" "Developmental and speech delay and behavior problems appeared in infancy, strabismus, mild intellectual disability, attention deficit hyperactivity disorder (ADHD).\r\n\r\nBrain MRI: rostrum hypoplasia; relative thickening of the genu and of the anterior part of the body of the corpus callosum; mild thickening and asimmetry of the fornices associated with persistence of a very small remnant of the septum pellucidum cave; bilateral hypoplasia and incomplete hippocampal inversion and asymmetric colpocephaly; reduced diameters of the third ventricle; stenotic cerebral acqueduct; quite severe pontine hypoplasia (antero-posterior and caudo-cranial diameters reduction) associated with slight dysmorphism of the midbrain; cerebellar hypoplasia especially involving the vermis; anterior pituitary diameters below the normal for age, in absence of other stalk or neuropituitary abnormalities; severe bilateral hypoplasia of olfactory sulcus and olfactory bulbs and tracts; very thin hypoplastic anterior commissure." "" "14y" "" "" "" "" "" "" "OMIM #618709" "" "" "0000254819" "00198" "00359564" "03746" "Familial, autosomal dominant" "01y" "Suspected ponto-cerebellar and corpus callosum hypoplasia at prenatal ultrasound. Febrile seizures and suspected encephalitis, treated with Acyclovir and Ceftriaxone at the age of 16 months. No more seizures were reported. Neurodevelopmental delay. \r\n \r\nBrain MRI: thinnning of the corpus callosum; bilateral hippocampal inversion; hypoplastic pons, slightly dysmorphic midbrain with shallower interpeduncolar cistern; reduction of longitudinal diameter of the vermis; mild colpocephaly and reduced diameters of the third ventricle; bilateral olfactory sulcus hypoplasia; olfactory bulbs and tracts agenesia." "" "04y" "" "" "" "" "" "" "NEDBAS" "" "" "0000254820" "00198" "00359565" "03746" "Familial, autosomal recessive" "" "mild intellectual disability; MRI-brain mild thickening of the corpus callosum and fornices; persistence of a very small remnant of the septum pellucidum cave; thin acqueduct and third ventricle; hypoplasia of the pons, vermis and cerebellar hemispheres, associated with volume reduction of declive, folium and tuber lobules and primary fissure enlargement; hypoplasia of olfactory sulci, tracts and bulbs." "" "" "" "" "" "" "" "" "NEDBAS" "" "" "0000278929" "05914" "00385133" "01164" "Isolated (sporadic)" "" "Ataxia, Global developmental delay, Mild global developmental delay" "" "" "" "" "" "" "" "" "2y" "" "" "0000339018" "00212" "00449871" "04653" "Isolated (sporadic)" "" "Schizophrenia, Scoliosis, Aplasia/Hypoplasia of the cerebellar vermis, Neurodevelopmental delay" "" "" "" "" "" "" "" "" "NEDBAS" "" "" "0000340359" "00198" "00451698" "03544" "Isolated (sporadic)" "" "HP:0000717, HP:0001256, HP:0040183, HP:0002721, HP:5200430" "" "" "" "" "" "" "" "" "NEDBAS" "neurodevelopmental disorder" "" "0000346554" "00198" "00458109" "03544" "Isolated (sporadic)" "" "HP:0001252, HP:0001270, HP:0002194, HP:0001288, HP:0001347, HP:0010769, HP:0001848, HP:0002353" "" "" "" "" "" "" "" "" "NEDBAS" "gait abnormality" "" ## Screenings ## Do not remove or alter this header ## ## Count = 22 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000262270" "00261164" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262271" "00261165" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262272" "00261166" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262273" "00261167" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262274" "00261168" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262275" "00261169" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262276" "00261170" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262277" "00261171" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262278" "00261172" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262279" "00261173" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262280" "00261174" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262281" "00261175" "1" "00006" "00006" "2019-08-11 12:19:47" "00006" "2019-08-11 13:40:26" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000262282" "00261176" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262283" "00261177" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000262284" "00261178" "1" "00006" "00006" "2019-08-11 12:19:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000360792" "00359563" "1" "03746" "03746" "2021-03-25 16:27:31" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000360793" "00359564" "1" "03746" "03746" "2021-03-25 16:42:32" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000360794" "00359565" "1" "03746" "03746" "2021-03-25 16:50:18" "" "" "SEQ-NG" "DNA" "blood" "WES" "0000386362" "00385133" "1" "01164" "01164" "2021-10-08 13:33:23" "" "" "SEQ-NG-I" "DNA" "" "" "0000451467" "00449871" "1" "04653" "04653" "2024-05-21 16:57:48" "" "" "SEQ-NG-I" "DNA" "" "WGS" "0000453302" "00451698" "1" "03544" "03544" "2024-07-01 12:38:58" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000459727" "00458109" "1" "03544" "03544" "2024-12-02 12:49:54" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000262270" "DLL1" "0000262271" "DLL1" "0000262272" "DLL1" "0000262273" "DLL1" "0000262274" "DLL1" "0000262275" "DLL1" "0000262276" "DLL1" "0000262277" "DLL1" "0000262278" "DLL1" "0000262279" "DLL1" "0000262280" "DLL1" "0000262281" "DLL1" "0000262282" "DLL1" "0000262283" "DLL1" "0000262284" "DLL1" "0000386362" "DLL1" ## 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 = 46 "{{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}}" "0000275099" "0" "10" "6" "170594062" "170594062" "subst" "0.00210803" "01943" "DLL1_000001" "g.170594062G>A" "" "" "" "DLL1(NM_005618.3):c.1194C>T (p.S398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.170284974G>A" "" "benign" "" "0000528029" "0" "30" "6" "170597400" "170597400" "subst" "0.000784005" "01943" "DLL1_000002" "g.170597400G>A" "" "" "" "DLL1(NM_005618.3):c.597C>T (p.F199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.170288312G>A" "" "likely benign" "" "0000592544" "0" "90" "6" "170592875" "170592875" "subst" "0" "00006" "DLL1_000008" "g.170592875C>A" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "De novo" "" "" "0" "" "" "g.170283787C>A" "" "pathogenic (dominant)" "" "0000592545" "21" "90" "6" "170598720" "170598720" "subst" "0" "00006" "DLL1_000012" "g.170598720G>T" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline" "" "" "0" "" "" "g.170289632G>T" "" "pathogenic (dominant)" "" "0000592546" "21" "90" "6" "170598720" "170598720" "subst" "0" "00006" "DLL1_000012" "g.170598720G>T" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline" "" "" "0" "" "" "g.170289632G>T" "" "pathogenic (dominant)" "" "0000592547" "21" "90" "6" "170598720" "170598720" "subst" "0" "00006" "DLL1_000012" "g.170598720G>T" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline" "" "" "0" "" "" "g.170289632G>T" "" "pathogenic (dominant)" "" "0000592548" "0" "90" "6" "170598720" "170598720" "subst" "0" "00006" "DLL1_000012" "g.170598720G>T" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170289632G>T" "" "pathogenic (dominant)" "" "0000592549" "11" "90" "6" "170592842" "170592842" "subst" "0" "00006" "DLL1_000007" "g.170592842G>A" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline" "" "" "0" "" "" "g.170283754G>A" "" "pathogenic (dominant)" "" "0000592550" "0" "90" "6" "170592353" "170592354" "del" "0" "00006" "DLL1_000006" "g.170592353_170592354del" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170283265_170283266del" "" "pathogenic (dominant)" "" "0000592551" "0" "90" "6" "170599180" "170599181" "del" "0" "00006" "DLL1_000013" "g.170599180_170599181del" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.170290092_170290093del" "" "pathogenic (dominant)" "" "0000592552" "0" "90" "6" "170592353" "170592354" "del" "0" "00006" "DLL1_000006" "g.170592353_170592354del" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "De novo" "" "" "0" "" "" "g.170283265_170283266del" "" "pathogenic (dominant)" "" "0000592553" "0" "90" "6" "170592962" "170592966" "dup" "0" "00006" "DLL1_000009" "g.170592962_170592966dup" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "De novo" "" "" "0" "" "" "g.170283874_170283878dup" "" "pathogenic (dominant)" "" "0000592554" "0" "90" "6" "170597427" "170597454" "dup" "0" "00006" "DLL1_000010" "g.170597427_170597454dup" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "father not avaialble" "Germline/De novo (untested)" "" "" "0" "" "" "g.170288339_170288366dup" "" "pathogenic (dominant)" "" "0000592555" "0" "90" "6" "170599173" "170599173" "subst" "0" "00006" "DLL1_000004" "g.170599173C>T" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "De novo" "" "" "0" "" "" "g.170290085C>T" "" "pathogenic (dominant)" "" "0000592556" "0" "90" "6" "170599174" "170599175" "ins" "0" "00006" "DLL1_000005" "g.170599174_170599175insGACTAC" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "De novo" "" "" "0" "" "" "g.170290086_170290087insGACTAC" "" "pathogenic (dominant)" "" "0000592557" "0" "70" "6" "170597461" "170597461" "subst" "0" "00006" "DLL1_000011" "g.170597461C>A" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "" "De novo" "" "" "0" "" "" "g.170288373C>A" "" "likely pathogenic (dominant)" "" "0000592558" "0" "90" "6" "170591663" "170713885" "del" "0" "00006" "DLL1_000003" "g.(?_170591663)_(170713885_?)del" "" "{DOI:Fischer-Zirnsak 2019:10.1016/j.ajhg.2019.07.002}" "" "" "122 kb deletion DLL1 and FAM120B" "De novo" "" "" "0" "" "arr[GRCh37]6q27 (170591663-170713885)x1" "" "" "pathogenic (dominant)" "" "0000760900" "21" "70" "6" "170594695" "170594718" "del" "0" "03746" "DLL1_000014" "g.170594695_170594718del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.170285607_170285630del" "" "likely pathogenic (!)" "ACMG" "0000760901" "21" "70" "6" "170594695" "170594718" "del" "0" "03746" "DLL1_000014" "g.170594695_170594718del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.170285607_170285630del" "" "likely pathogenic" "ACMG" "0000760902" "0" "70" "6" "170594695" "170594718" "del" "0" "03746" "DLL1_000014" "g.170594695_170594718del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.170285607_170285630del" "" "likely pathogenic" "ACMG" "0000813845" "0" "90" "6" "170593111" "170593117" "del" "0" "01164" "DLL1_000015" "g.170593111_170593117del" "" "" "" "" "ACMG: PVS1, PS2, PM2_SUP; confirmed de novo in trio-exom" "De novo" "yes" "" "0" "" "" "g.170284023_170284029del" "" "pathogenic" "ACMG" "0000927674" "0" "50" "6" "170592733" "170592733" "subst" "0" "03779" "DLL1_000016" "g.170592733C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000948679" "0" "30" "6" "170592161" "170592161" "subst" "0.000174651" "02325" "DLL1_000017" "g.170592161G>A" "" "" "" "DLL1(NM_005618.4):c.2081C>T (p.S694L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977104" "0" "50" "6" "170594103" "170594103" "subst" "0" "01804" "DLL1_000018" "g.170594103G>C" "" "" "" "DLL1(NM_005618.4):c.1153C>G (p.(Pro385Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977105" "0" "30" "6" "170594343" "170594343" "subst" "1.62598E-5" "01804" "DLL1_000019" "g.170594343G>A" "" "" "" "DLL1(NM_005618.4):c.1031C>T (p.(Thr344Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000985367" "0" "70" "6" "170592325" "170592328" "del" "0" "04653" "DLL1_000020" "g.170592325_170592328del" "" "" "" "" "probably de novo (duo WGS with mother)" "Unknown" "" "" "0" "" "" "g.170283237_170283240del" "" "likely pathogenic (dominant)" "ACMG" "0000987886" "0" "90" "6" "170598771" "170598771" "del" "0" "03544" "DLL1_000021" "g.170598771del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.170289683del" "{CV:3383967}" "pathogenic" "ACMG" "0000995567" "0" "30" "6" "170592454" "170592454" "subst" "1.63379E-5" "01804" "DLL1_000022" "g.170592454G>A" "" "" "" "DLL1(NM_005618.3):c.1913C>T (p.(Ala638Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995568" "0" "30" "6" "170592491" "170592491" "subst" "0" "01804" "DLL1_000023" "g.170592491T>C" "" "" "" "DLL1(NM_005618.3):c.1876A>G (p.(Ser626Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995569" "0" "30" "6" "170592500" "170592500" "subst" "1.64027E-5" "01804" "DLL1_000024" "g.170592500C>T" "" "" "" "DLL1(NM_005618.3):c.1867G>A (p.(Gly623Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995570" "0" "30" "6" "170592538" "170592538" "subst" "0.00042888" "01804" "DLL1_000025" "g.170592538G>A" "" "" "" "DLL1(NM_005618.3):c.1829C>T (p.(Thr610Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995571" "0" "30" "6" "170592563" "170592565" "del" "0.00278683" "01804" "DLL1_000026" "g.170592563_170592565del" "" "" "" "DLL1(NM_005618.3):c.1802_1804delACA (p.(Asp601_Ile602delinsVal))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995572" "0" "50" "6" "170594061" "170594061" "subst" "2.84331E-5" "01804" "DLL1_000027" "g.170594061C>T" "" "" "" "DLL1(NM_005618.3):c.1195G>A (p.(Gly399Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995573" "0" "50" "6" "170594222" "170594222" "subst" "3.65943E-5" "01804" "DLL1_000028" "g.170594222T>C" "" "" "" "DLL1(NM_005618.3):c.1034A>G (p.(Asp345Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995574" "0" "30" "6" "170594334" "170594334" "subst" "8.13584E-6" "01804" "DLL1_000029" "g.170594334C>T" "" "" "" "DLL1(NM_005618.3):c.1032+8G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995575" "0" "30" "6" "170594765" "170594765" "subst" "0" "01804" "DLL1_000030" "g.170594765G>A" "" "" "" "DLL1(NM_005618.3):c.754C>T (p.(Arg252Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995576" "0" "30" "6" "170597500" "170597500" "subst" "0" "01804" "DLL1_000031" "g.170597500C>G" "" "" "" "DLL1(NM_005618.3):c.497G>C (p.(Ser166Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995577" "0" "50" "6" "170599178" "170599178" "subst" "0" "01804" "DLL1_000032" "g.170599178C>A" "" "" "" "DLL1(NM_005618.3):c.50G>T (p.(Cys17Phe)), DLL1(NM_005618.4):c.50G>T (p.C17F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995578" "0" "50" "6" "170599178" "170599178" "subst" "0" "02325" "DLL1_000032" "g.170599178C>A" "" "" "" "DLL1(NM_005618.3):c.50G>T (p.(Cys17Phe)), DLL1(NM_005618.4):c.50G>T (p.C17F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001017841" "21" "70" "6" "170592322" "170592323" "del" "0" "03544" "DLL1_000033" "g.170592322_170592323del" "" "" "" "" "recurrent pathogenic variant, inherited from mother" "Germline" "yes" "rs1783602877" "0" "" "" "g.170283234_170283235del" "{CV:985068}" "likely pathogenic" "ACMG" "0001035623" "0" "50" "6" "170591743" "170591743" "subst" "0" "01804" "DLL1_000034" "g.170591743C>T" "" "" "" "DLL1(NM_005618.4):c.*219G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035624" "0" "50" "6" "170594657" "170594657" "subst" "0" "02329" "DLL1_000035" "g.170594657C>A" "" "" "" "DLL1(NM_005618.4):c.862G>T (p.D288Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001035625" "0" "30" "6" "170594764" "170594764" "subst" "1.21867E-5" "01804" "DLL1_000036" "g.170594764C>T" "" "" "" "DLL1(NM_005618.4):c.755G>A (p.(Arg252Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052555" "0" "30" "6" "170592464" "170592464" "subst" "0.000159499" "01804" "DLL1_000037" "g.170592464G>A" "" "" "" "DLL1(NM_005618.4):c.1903C>T (p.(Arg635Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052556" "0" "50" "6" "170593067" "170593067" "subst" "0" "01804" "DLL1_000038" "g.170593067C>T" "" "" "" "DLL1(NM_005618.4):c.1300G>A (p.(Gly434Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064675" "0" "30" "6" "170591975" "170591975" "del" "0" "02325" "DLL1_000039" "g.170591975del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes DLL1 ## Count = 46 "{{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}}" "0000275099" "00006479" "10" "1194" "0" "1194" "0" "c.1194C>T" "r.(?)" "p.(Ser398=)" "" "0000528029" "00006479" "30" "597" "0" "597" "0" "c.597C>T" "r.(?)" "p.(Phe199=)" "" "0000592544" "00006479" "90" "1492" "0" "1492" "0" "c.1492G>T" "r.(?)" "p.(Glu498*)" "" "0000592545" "00006479" "90" "231" "0" "231" "0" "c.231C>A" "r.(?)" "p.(Cys77*)" "" "0000592546" "00006479" "90" "231" "0" "231" "0" "c.231C>A" "r.(?)" "p.(Cys77*)" "" "0000592547" "00006479" "90" "231" "0" "231" "0" "c.231C>A" "r.(?)" "p.(Cys77*)" "" "0000592548" "00006479" "90" "231" "0" "231" "0" "c.231C>A" "r.(?)" "p.(Cys77*)" "" "0000592549" "00006479" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509*)" "" "0000592550" "00006479" "90" "2013" "0" "2014" "0" "c.2013_2014del" "r.(?)" "p.(Glu673Glyfs*15)" "" "0000592551" "00006479" "90" "50" "0" "51" "0" "c.50_51del" "r.(?)" "p.(Cys17Serfs*108)" "" "0000592552" "00006479" "90" "2013" "0" "2014" "0" "c.2013_2014del" "r.(?)" "p.(Glu673Glyfs*15)" "" "0000592553" "00006479" "90" "1401" "0" "1405" "0" "c.1401_1405dup" "r.(?)" "p.(Cys469Serfs*70)" "" "0000592554" "00006479" "90" "543" "0" "570" "0" "c.543_570dup" "r.(?)" "p.(Phe191Thrfs*50)" "" "0000592555" "00006479" "90" "54" "1" "54" "1" "c.54+1G>A" "r.54_55insauaggcgggcag" "p.Gln18_Val19insIleGlyGlyGln" "" "0000592556" "00006479" "90" "54" "0" "54" "1" "c.54_54+1insTAGTCG" "r.spl" "p.(Val19*)" "" "0000592557" "00006479" "70" "536" "0" "536" "0" "c.536G>T" "r.(?)" "p.(Cys179Phe)" "" "0000592558" "00006479" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "" "0000760900" "00006479" "70" "808" "0" "831" "0" "c.808_831del" "r.(?)" "p.(Gln270_Gln277del)" "" "0000760901" "00006479" "70" "808" "0" "831" "0" "c.808_831del" "r.(?)" "p.(Gln270_Gln277del)" "" "0000760902" "00006479" "70" "808" "0" "831" "0" "c.808_831del" "r.(?)" "p.(Gln270_Gln277del)" "" "0000813845" "00006479" "90" "1253" "0" "1259" "0" "c.1253_1259del" "r.(?)" "p.(Ala418Valfs*43)" "" "0000927674" "00006479" "50" "1634" "0" "1634" "0" "c.1634G>C" "r.(?)" "p.(Trp545Ser)" "" "0000948679" "00006479" "30" "2081" "0" "2081" "0" "c.2081C>T" "r.(?)" "p.(Ser694Leu)" "" "0000977104" "00006479" "50" "1153" "0" "1153" "0" "c.1153C>G" "r.(?)" "p.(Pro385Ala)" "" "0000977105" "00006479" "30" "1031" "0" "1031" "0" "c.1031C>T" "r.(?)" "p.(Thr344Met)" "" "0000985367" "00006479" "70" "2041" "0" "2044" "0" "c.2041_2044del" "r.(?)" "p.(Leu681GlyfsTer38)" "9" "0000987886" "00006479" "90" "181" "0" "181" "0" "c.181del" "r.(?)" "p.(Arg61Alafs*62)" "2" "0000995567" "00006479" "30" "1913" "0" "1913" "0" "c.1913C>T" "r.(?)" "p.(Ala638Val)" "" "0000995568" "00006479" "30" "1876" "0" "1876" "0" "c.1876A>G" "r.(?)" "p.(Ser626Gly)" "" "0000995569" "00006479" "30" "1867" "0" "1867" "0" "c.1867G>A" "r.(?)" "p.(Gly623Arg)" "" "0000995570" "00006479" "30" "1829" "0" "1829" "0" "c.1829C>T" "r.(?)" "p.(Thr610Met)" "" "0000995571" "00006479" "30" "1802" "0" "1804" "0" "c.1802_1804del" "r.(?)" "p.(Asp601_Ile602delinsVal)" "" "0000995572" "00006479" "50" "1195" "0" "1195" "0" "c.1195G>A" "r.(?)" "p.(Gly399Ser)" "" "0000995573" "00006479" "50" "1034" "0" "1034" "0" "c.1034A>G" "r.(?)" "p.(Asp345Gly)" "" "0000995574" "00006479" "30" "1032" "8" "1032" "8" "c.1032+8G>A" "r.(=)" "p.(=)" "" "0000995575" "00006479" "30" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000995576" "00006479" "30" "497" "0" "497" "0" "c.497G>C" "r.(?)" "p.(Ser166Thr)" "" "0000995577" "00006479" "50" "50" "0" "50" "0" "c.50G>T" "r.(?)" "p.(Cys17Phe)" "" "0000995578" "00006479" "50" "50" "0" "50" "0" "c.50G>T" "r.(?)" "p.(Cys17Phe)" "" "0001017841" "00006479" "70" "2044" "0" "2045" "0" "c.2044_2045del" "r.(?)" "p.(Arg682Glyfs*6)" "9" "0001035623" "00006479" "50" "2391" "0" "2391" "0" "c.*219G>A" "r.(=)" "p.(=)" "" "0001035624" "00006479" "50" "862" "0" "862" "0" "c.862G>T" "r.(?)" "p.(Asp288Tyr)" "" "0001035625" "00006479" "30" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0001052555" "00006479" "30" "1903" "0" "1903" "0" "c.1903C>T" "r.(?)" "p.(Arg635Cys)" "" "0001052556" "00006479" "50" "1300" "0" "1300" "0" "c.1300G>A" "r.(?)" "p.(Gly434Ser)" "" "0001064675" "00006479" "30" "2167" "-3" "2167" "-3" "c.2167-3del" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{variantid}}" "0000262270" "0000592544" "0000262271" "0000592545" "0000262272" "0000592546" "0000262273" "0000592547" "0000262274" "0000592548" "0000262275" "0000592549" "0000262276" "0000592550" "0000262277" "0000592551" "0000262278" "0000592552" "0000262279" "0000592553" "0000262280" "0000592554" "0000262281" "0000592555" "0000262282" "0000592556" "0000262283" "0000592557" "0000262284" "0000592558" "0000360792" "0000760900" "0000360793" "0000760901" "0000360794" "0000760902" "0000386362" "0000813845" "0000451467" "0000985367" "0000453302" "0000987886" "0000459727" "0001017841"