### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = GLTSCR1)
# 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}}"
"GLTSCR1" "glioma tumor suppressor candidate region gene 1" "19" "q13.3" "unknown" "NC_000019.9" "UD_136023174206" "" "https://www.LOVD.nl/BICRA" "" "1" "4332" "29998" "605690" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from GLTSCR1 to BICRA.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/GLTSCR1_codingDNA.html" "1" "" "NOTE: gene symbol was recently changed from GLTSCR1 to BICRA." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-30 17:49:02" "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}}"
"00008603" "GLTSCR1" "glioma tumor suppressor candidate region gene 1" "001" "NM_015711.3" "" "NP_056526.3" "" "" "" "-194" "5545" "4683" "48111453" "48206534" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{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"
"03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09"
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"GLTSCR1" "05611"
## Individuals ## Do not remove or alter this header ##
## Count = 15
"{{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}}"
"00104013" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-513A"
"00324091" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Germany" "" "0" "" "" "" "S1"
"00324092" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected parents" "F" "" "" "" "0" "" "" "" "S2"
"00324093" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "S3"
"00324094" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "S4"
"00324095" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}, {PMID:Chen 2022:34906496}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Mexico" "" "0" "" "" "Hispanic" "S5;PatN4"
"00324096" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "S6"
"00324097" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "S7"
"00324098" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "S8"
"00324099" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "S9"
"00324100" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "" "S10"
"00324101" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Congo" "" "0" "" "" "" "S11"
"00324102" "" "" "" "1" "" "00006" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "S12"
"00325871" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00415242" "" "" "" "2" "" "00006" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "2 generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "" "Bosnia and Herzegovina;Croatia (Hrvatska)" "15y" "0" "" "" "Bosnia" "Fam2Pat2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 15
"{{individualid}}" "{{diseaseid}}"
"00104013" "03381"
"00324091" "05611"
"00324092" "05611"
"00324093" "05611"
"00324094" "05611"
"00324095" "05611"
"00324096" "05611"
"00324097" "05611"
"00324098" "05611"
"00324099" "05611"
"00324100" "05611"
"00324101" "05611"
"00324102" "05611"
"00325871" "00198"
"00415242" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 03381, 05611
## Count = 15
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000081947" "03381" "00104013" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" ""
"0000242672" "05611" "00324091" "00006" "Isolated (sporadic)" "3y" "developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; GERD; no chronic constipation; no horseshoe kidney; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; poor weight gain; no failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242673" "05611" "00324092" "00006" "Unknown" "8y" "developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; no feeding difficulties; epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; hippocampal atrophy; ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; short stature; no poor weight gain; no failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242674" "05611" "00324093" "00006" "Isolated (sporadic)" "11y" "developmental delay/intellectual disability; autism spectrum disorder; no developmental regression; no motor stereotypies; behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; ambliopia/strabismus; myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; cryptorchidism; hypospadias; radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242675" "05611" "00324094" "00006" "Isolated (sporadic)" "9m" "developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; poor weight gain; no failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242676" "05611" "00324095" "00006" "Isolated (sporadic)" "17y" "developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; short stature; poor weight gain; failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242677" "05611" "00324096" "00006" "Isolated (sporadic)" "28y" "developmental delay/intellectual disability; autism spectrum disorder; no developmental regression; no motor stereotypies; behavioral problems; sleep disturbance; no hypotonia; no oral motor hypotonia; no feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; possible celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242678" "05611" "00324097" "00006" "Isolated (sporadic)" "17y" "developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; behavioral problems; sleep disturbance; hypotonia; no oral motor hypotonia; no feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; ambliopia/strabismus; no myopia; no hyperopia; sensorineural hearing loss; submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; scoliosis; joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; von Willebrand disease; no short stature; no poor weight gain; no failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242679" "05611" "00324098" "00006" "Isolated (sporadic)" "2y" "developmental delay/intellectual disability; mild autism spectrum disorder; no developmental regression; motor stereotypies; no behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; GERD; chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; no joint laxicity; hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; poor weight gain; failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242680" "05611" "00324099" "00006" "Isolated (sporadic)" "7y" "developmental delay/intellectual disability; autism spectrum disorder; no developmental regression; motor stereotypies; no sleep disturbance; no hypotonia; no oral motor hypotonia; feeding difficulties; epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; chronic constipation; no horseshoe kidney; no radioulnar synostosis; scoliosis; joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242681" "05611" "00324100" "00006" "Isolated (sporadic)" "8y" "developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; no feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; ambliopia/strabismus; no myopia; hyperopia; no sensorineural hearing loss; no submucous cleft palate; tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; horseshoe kidney; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242682" "05611" "00324101" "00006" "Isolated (sporadic)" "11y" "developmental delay/intellectual disability; autism spectrum disorder; developmental regression; no motor stereotypies; behavioral problems; no sleep disturbance; no hypotonia; no oral motor hypotonia; no feeding difficulties; no epilepsy/seizures; no chiari malformation; no obstructive hydrocephalus; no macrocerebellum; no facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; no elevated liver enzymes; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no cryptorchidism; no hypospadias; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; no recurrent infections; no hypothyroidsim; no von Willebrand disease; no short stature; no poor weight gain; no failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000242683" "05611" "00324102" "00006" "Isolated (sporadic)" "28m" "developmental delay/intellectual disability; no autism spectrum disorder; no developmental regression; no motor stereotypies; no behavioral problems; no sleep disturbance; no hypotonia; oral motor hypotonia; feeding difficulties; no epilepsy/seizures; chiari malformation; obstructive hydrocephalus; macrocerebellum; facial nerve paresis; no hippocampal atrophy; no ambliopia/strabismus; no myopia; no hyperopia; no sensorineural hearing loss; no submucous cleft palate; no tatralogy of Fallot; no patent foramen ovale; no cardiac murmur; elevated liver enzymes possibly due to cystic fibrosis with exocrine pancreatic insufficiency; no celiac disease; no GERD; no chronic constipation; no horseshoe kidney; no radioulnar synostosis; no scoliosis; no joint laxicity; no hip subluxation; recurrent infections; hypothyroidsim; no von Willebrand disease; short stature; poor weight gain; failure to thrive" "" "" "" "" "" "" "" "" "" "developmental delay/intellectual disability" ""
"0000244358" "00198" "00325871" "01807" "Unknown" "" "Microcephaly (HP:0000252); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); 2-3 toe syndactyly (HP:0004691)" "" "" "" "" "" "" "" "" "" "" ""
"0000307040" "05611" "00415242" "00006" "Familial, autosomal recessive" "15y" "15y-died; birth 40w, weight 3,000 g (-1.12 SD), length 51 cm (-0.32 SD), ; no neonatal problems; 7y9m-height 114.8 cm (-1.8 SD), weight 16.8 kg (-2.56 SD), OFC 46.5 cm (-4.86 SD); 13m-sit; 3y6m-walk ; no speech; shy, stubborn, hyperactive; 5y/8y-2 occurences of tonic-clonic fever-associated seizures; hypotonia; MRI brain 4y-hypomyelination, cortical atrophy; incomplete atrioventricular canal, atrial septal defect type 2, ventricular septal defect, global progressive cardiac insufficiency with severe mitral-valve and aortic-valve insufficiency and severe cardiomegaly, which led to exitus letalis, mitral- and aortic-valve replacement and reconstruction was performed, 8y-ECG atrioventricular block; strabismus convergens alternans; recurrent infections" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" ""
## Screenings ## Do not remove or alter this header ##
## Count = 15
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000104484" "00104013" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" ""
"0000325280" "00324091" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325281" "00324092" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325282" "00324093" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325283" "00324094" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325284" "00324095" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325285" "00324096" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325286" "00324097" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325287" "00324098" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325288" "00324099" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325289" "00324100" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325290" "00324101" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000325291" "00324102" "1" "00006" "00006" "2020-11-30 17:48:48" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000327081" "00325871" "1" "01807" "01807" "2021-01-04 12:42:01" "" "" "SEQ" "DNA" "" ""
"0000416524" "00415242" "1" "00006" "00006" "2022-08-10 16:14:56" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 12
"{{screeningid}}" "{{geneid}}"
"0000325280" "GLTSCR1"
"0000325281" "GLTSCR1"
"0000325282" "GLTSCR1"
"0000325283" "GLTSCR1"
"0000325284" "GLTSCR1"
"0000325285" "GLTSCR1"
"0000325286" "GLTSCR1"
"0000325287" "GLTSCR1"
"0000325288" "GLTSCR1"
"0000325289" "GLTSCR1"
"0000325290" "GLTSCR1"
"0000325291" "GLTSCR1"
## 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 = 53
"{{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}}"
"0000169225" "0" "70" "19" "48183865" "48183865" "subst" "0.000115802" "00587" "GLTSCR1_000001" "g.48183865G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_015711.3(GLTSCR1):c.1438G>A p.(Val480Ile)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.47680608G>A" "" "likely pathogenic" ""
"0000326672" "0" "50" "19" "48183014" "48183015" "del" "0" "01804" "GLTSCR1_000002" "g.48183014_48183015del" "" "" "" "GLTSCR1(NM_015711.3):c.586_587del (p.(Pro196LeufsTer477))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47679757_47679758del" "" "VUS" ""
"0000344795" "0" "90" "19" "48183520" "48183520" "subst" "0" "02327" "GLTSCR1_000003" "g.48183520C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47680263C>T" "" "pathogenic" ""
"0000567872" "0" "50" "19" "48205256" "48205256" "subst" "0" "01943" "GLTSCR1_000004" "g.48205256G>A" "" "" "" "GLTSCR1(NM_015711.3):c.4267G>A (p.E1423K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47701999G>A" "" "VUS" ""
"0000617729" "0" "50" "19" "48179135" "48179135" "subst" "0" "01943" "GLTSCR1_000005" "g.48179135C>G" "" "" "" "GLTSCR1(NM_015711.3):c.112C>G (p.P38A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47675878C>G" "" "VUS" ""
"0000708253" "0" "90" "19" "48183363" "48183363" "del" "0" "00006" "GLTSCR1_000010" "g.48183363del" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "936delC" "" "De novo" "" "" "0" "" "" "g.47680106del" "" "pathogenic (dominant)" ""
"0000708254" "0" "90" "19" "48184001" "48184001" "del" "0" "00006" "GLTSCR1_000011" "g.48184001del" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "1574delG" "father not available" "Germline/De novo (untested)" "" "" "0" "" "" "g.47680744del" "" "pathogenic (dominant)" ""
"0000708255" "0" "90" "19" "48184420" "48184420" "subst" "0" "00006" "GLTSCR1_000012" "g.48184420C>T" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "" "" "De novo" "" "" "0" "" "" "g.47681163C>T" "" "pathogenic (dominant)" ""
"0000708256" "0" "90" "19" "48184502" "48184505" "del" "0" "00006" "GLTSCR1_000013" "g.48184502_48184505del" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "2075_2078delCTCA" "" "De novo" "" "" "0" "" "" "g.47681245_47681248del" "" "pathogenic (dominant)" ""
"0000708257" "0" "90" "19" "48197567" "48197568" "delins" "0" "00006" "GLTSCR1_000014" "g.48197567_48197568delinsA" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}, {PMID:Chen 2022:34906496}" "" "" "" "De novo" "" "" "0" "" "" "g.47694310_47694311delinsA" "" "pathogenic (dominant)" ""
"0000708258" "0" "90" "19" "48199768" "48199768" "dup" "0" "00006" "GLTSCR1_000015" "g.48199768dup" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "3247dupT" "" "De novo" "" "" "0" "" "" "g.47696511dup" "" "pathogenic (dominant)" ""
"0000708259" "0" "90" "19" "48205358" "48205358" "subst" "0" "00006" "GLTSCR1_000016" "g.48205358C>T" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "" "" "De novo" "" "" "0" "" "" "g.47702101C>T" "" "pathogenic (dominant)" ""
"0000708260" "0" "90" "19" "48030624" "48156194" "del" "0" "00006" "GLTSCR1_000007" "g.(?_48030624)_(48156194_?)del" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "48,030,624-481,56,194del" "126 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000708261" "0" "90" "19" "48117952" "48285752" "del" "0" "00006" "GLTSCR1_000008" "g.(?_48117952)_(48285752_?)del" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "48,117,952-48,285,752del" "167.8 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000708262" "0" "90" "19" "48003600" "48206000" "del" "0" "00006" "GLTSCR1_000006" "g.(?_48003600)_(48206000_?)del" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "48,003,600-48,206,000del" "202 kb deletion" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" ""
"0000708263" "0" "70" "19" "48182619" "48182619" "subst" "0" "00006" "GLTSCR1_000009" "g.48182619G>C" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "" "" "De novo" "" "" "0" "" "" "g.47679362G>C" "" "likely pathogenic (dominant)" ""
"0000708264" "0" "70" "19" "48205256" "48205256" "subst" "0" "00006" "GLTSCR1_000004" "g.48205256G>A" "" "{PMID:Barish 2020:33232675}, {DOI:Barish 2020:10.1016/j.ajhg.2020.11.003}" "" "" "" "De novo" "" "" "0" "" "" "g.47701999G>A" "" "likely pathogenic (dominant)" ""
"0000710713" "0" "70" "19" "48183295" "48183295" "subst" "0" "01807" "GLTSCR1_000017" "g.48183295C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000855642" "0" "30" "19" "48183672" "48183672" "subst" "0" "01943" "GLTSCR1_000018" "g.48183672C>T" "" "" "" "BICRA(NM_015711.3):c.1245C>T (p.P415=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000874703" "0" "50" "19" "48179160" "48179160" "subst" "4.26196E-6" "00006" "GLTSCR1_000019" "g.48179160A>G" "" "{PMID:Ziegler 2022:35858628}, {DOI:Ziegler 2022:10.1016/j.ajhg.2022.06.010}" "" "" "" "De novo" "no" "" "0" "" "" "g.47675903A>G" "" "VUS" ""
"0000915264" "0" "50" "19" "48204894" "48204894" "subst" "0" "02325" "GLTSCR1_000020" "g.48204894C>T" "" "" "" "BICRA(NM_015711.3):c.3905C>T (p.A1302V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000926922" "0" "30" "19" "48205413" "48205413" "subst" "0.000444785" "02325" "GLTSCR1_000021" "g.48205413G>A" "" "" "" "BICRA(NM_015711.3):c.4424G>A (p.R1475H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000931079" "0" "50" "19" "48185412" "48185412" "subst" "0" "02327" "GLTSCR1_000022" "g.48185412A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000951317" "0" "30" "19" "48184057" "48184057" "subst" "2.6325E-5" "02325" "GLTSCR1_000023" "g.48184057G>A" "" "" "" "BICRA(NM_015711.3):c.1630G>A (p.A544T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000951318" "0" "30" "19" "48204620" "48204620" "subst" "3.41816E-5" "02325" "GLTSCR1_000024" "g.48204620C>G" "" "" "" "BICRA(NM_015711.3):c.3631C>G (p.P1211A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000983563" "0" "50" "19" "48183826" "48183826" "subst" "0" "01804" "GLTSCR1_000025" "g.48183826C>T" "" "" "" "BICRA(NM_015711.3):c.1399C>T (p.(Pro467Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000983564" "0" "30" "19" "48205244" "48205244" "subst" "0" "01804" "GLTSCR1_000026" "g.48205244G>A" "" "" "" "BICRA(NM_015711.3):c.4255G>A (p.(Ala1419Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004937" "0" "30" "19" "48183262" "48183262" "subst" "0" "01804" "GLTSCR1_000027" "g.48183262G>A" "" "" "" "GLTSCR1(NM_015711.3):c.835G>A (p.(Gly279Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004938" "0" "30" "19" "48183886" "48183886" "subst" "0" "01804" "GLTSCR1_000028" "g.48183886T>C" "" "" "" "GLTSCR1(NM_015711.3):c.1459T>C (p.(Ser487Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004939" "0" "30" "19" "48183964" "48183964" "subst" "1.32529E-5" "01804" "GLTSCR1_000029" "g.48183964C>T" "" "" "" "GLTSCR1(NM_015711.3):c.1537C>T (p.(Pro513Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004940" "0" "30" "19" "48184333" "48184333" "subst" "3.23541E-5" "01804" "GLTSCR1_000030" "g.48184333C>T" "" "" "" "GLTSCR1(NM_015711.3):c.1906C>T (p.(Pro636Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004941" "0" "50" "19" "48184455" "48184455" "subst" "0" "01804" "GLTSCR1_000031" "g.48184455G>T" "" "" "" "GLTSCR1(NM_015711.3):c.2028G>T (p.(Lys676Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001004942" "0" "30" "19" "48185278" "48185278" "subst" "0.000124035" "01804" "GLTSCR1_000032" "g.48185278G>A" "" "" "" "GLTSCR1(NM_015711.3):c.2152G>A (p.(Val718Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004943" "0" "30" "19" "48197405" "48197405" "subst" "0" "01804" "GLTSCR1_000033" "g.48197405C>T" "" "" "" "GLTSCR1(NM_015711.3):c.2317C>T (p.(Pro773Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004944" "0" "50" "19" "48197637" "48197637" "subst" "6.41997E-6" "01804" "GLTSCR1_000034" "g.48197637C>T" "" "" "" "GLTSCR1(NM_015711.3):c.2549C>T (p.(Pro850Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001004945" "0" "50" "19" "48198651" "48198651" "subst" "2.39863E-5" "01804" "GLTSCR1_000035" "g.48198651A>G" "" "" "" "BICRA(NM_015711.3):c.3106A>G (p.(Lys1036Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001004946" "0" "30" "19" "48201967" "48201967" "subst" "0.0028181" "01804" "GLTSCR1_000036" "g.48201967G>A" "" "" "" "BICRA(NM_015711.3):c.3325G>A (p.(Asp1109Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004947" "0" "50" "19" "48205073" "48205073" "subst" "0" "01804" "GLTSCR1_000037" "g.48205073A>G" "" "" "" "GLTSCR1(NM_015711.3):c.4084A>G (p.(Thr1362Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001004948" "0" "30" "19" "48205325" "48205325" "subst" "0" "01804" "GLTSCR1_000038" "g.48205325G>C" "" "" "" "GLTSCR1(NM_015711.3):c.4336G>C (p.(Gly1446Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004949" "0" "50" "19" "48205391" "48205391" "subst" "0" "01804" "GLTSCR1_000039" "g.48205391G>A" "" "" "" "GLTSCR1(NM_015711.3):c.4402G>A (p.(Gly1468Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001015816" "0" "70" "19" "48182754" "48182754" "dup" "0" "02329" "GLTSCR1_000040" "g.48182754dup" "" "" "" "BICRA(NM_015711.3):c.327dupA (p.E110Rfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001015817" "0" "50" "19" "48183211" "48183211" "subst" "0" "02325" "GLTSCR1_000041" "g.48183211T>C" "" "" "" "BICRA(NM_015711.3):c.784T>C (p.Y262H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001043071" "0" "30" "19" "48128274" "48128274" "del" "0" "01804" "GLTSCR1_000042" "g.48128274del" "" "" "" "BICRA(NM_015711.3):c.-108+16735del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001043073" "0" "50" "19" "48179160" "48179160" "subst" "4.26196E-6" "01804" "GLTSCR1_000019" "g.48179160A>G" "" "" "" "BICRA(NM_015711.3):c.137A>G (p.(Tyr46Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001056734" "0" "30" "19" "48205657" "48205657" "subst" "0.0015428" "01804" "GLTSCR1_000043" "g.48205657G>A" "" "" "" "BICRA(NM_015711.3):c.4668G>A (p.(Arg1556=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001067228" "0" "50" "19" "48176826" "48176826" "subst" "0" "02325" "GLTSCR1_000044" "g.48176826G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067229" "0" "50" "19" "48182855" "48182855" "subst" "0" "02325" "GLTSCR1_000045" "g.48182855C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067230" "0" "50" "19" "48183158" "48183158" "subst" "0" "02325" "GLTSCR1_000046" "g.48183158C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067231" "0" "50" "19" "48183566" "48183566" "subst" "0" "02325" "GLTSCR1_000047" "g.48183566T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067232" "0" "50" "19" "48184519" "48184519" "subst" "0" "02325" "GLTSCR1_000048" "g.48184519A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067233" "0" "50" "19" "48204814" "48204816" "dup" "0" "02325" "GLTSCR1_000049" "g.48204814_48204816dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067234" "0" "50" "19" "48205303" "48205303" "subst" "0" "02325" "GLTSCR1_000050" "g.48205303G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001067235" "0" "30" "19" "48205498" "48205498" "subst" "8.04369E-5" "02325" "GLTSCR1_000051" "g.48205498C>T" "" "" "" "" "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 GLTSCR1
## Count = 53
"{{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}}"
"0000169225" "00008603" "00" "1438" "0" "1438" "0" "c.1438G>A" "r.(?)" "p.(Val480Ile)" ""
"0000326672" "00008603" "50" "587" "0" "588" "0" "c.587_588del" "r.(?)" "p.(Pro196LeufsTer477)" ""
"0000344795" "00008603" "90" "1093" "0" "1093" "0" "c.1093C>T" "r.(?)" "p.(Gln365Ter)" ""
"0000567872" "00008603" "50" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Glu1423Lys)" ""
"0000617729" "00008603" "50" "112" "0" "112" "0" "c.112C>G" "r.(?)" "p.(Pro38Ala)" ""
"0000708253" "00008603" "90" "936" "0" "936" "0" "c.936del" "r.(?)" "p.(Ala313Profs*30)" ""
"0000708254" "00008603" "90" "1574" "0" "1574" "0" "c.1574del" "r.(?)" "p.(Ser525Thrfs*199)" ""
"0000708255" "00008603" "90" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Gln665*)" ""
"0000708256" "00008603" "90" "2075" "0" "2078" "0" "c.2075_2078del" "r.(?)" "p.(Thr692Argfs*31)" ""
"0000708257" "00008603" "90" "2479" "0" "2480" "0" "c.2479_2480delinsA" "r.(?)" "p.(Ala827Thrfs*15)" ""
"0000708258" "00008603" "90" "3247" "0" "3247" "0" "c.3247dup" "r.(?)" "p.(Cys1083Leufs*26)" ""
"0000708259" "00008603" "90" "4369" "0" "4369" "0" "c.4369C>T" "r.(?)" "p.(Gln1457*)" ""
"0000708260" "00008603" "90" "" "0" "" "0" "c.-194_(-107-17506_?){0}" "r.0?" "p.0?" ""
"0000708261" "00008603" "90" "" "0" "" "0" "c.(?_-108+6413)_*862{0}" "r.?" "p.?" ""
"0000708262" "00008603" "90" "" "0" "" "0" "c.-194_(*328_?){0}" "r.0?" "p.0?" ""
"0000708263" "00008603" "70" "192" "0" "192" "0" "c.192G>C" "r.(?)" "p.(Glu64Asp)" ""
"0000708264" "00008603" "70" "4267" "0" "4267" "0" "c.4267G>A" "r.(?)" "p.(Glu1423Lys)" ""
"0000710713" "00008603" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(Gln290Ter)" ""
"0000855642" "00008603" "30" "1245" "0" "1245" "0" "c.1245C>T" "r.(?)" "p.(Pro415=)" ""
"0000874703" "00008603" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" ""
"0000915264" "00008603" "50" "3905" "0" "3905" "0" "c.3905C>T" "r.(?)" "p.(Ala1302Val)" ""
"0000926922" "00008603" "30" "4424" "0" "4424" "0" "c.4424G>A" "r.(?)" "p.(Arg1475His)" ""
"0000931079" "00008603" "50" "2283" "3" "2283" "3" "c.2283+3A>G" "r.spl?" "p.?" ""
"0000951317" "00008603" "30" "1630" "0" "1630" "0" "c.1630G>A" "r.(?)" "p.(Ala544Thr)" ""
"0000951318" "00008603" "30" "3631" "0" "3631" "0" "c.3631C>G" "r.(?)" "p.(Pro1211Ala)" ""
"0000983563" "00008603" "50" "1399" "0" "1399" "0" "c.1399C>T" "r.(?)" "p.(Pro467Ser)" ""
"0000983564" "00008603" "30" "4255" "0" "4255" "0" "c.4255G>A" "r.(?)" "p.(Ala1419Thr)" ""
"0001004937" "00008603" "30" "835" "0" "835" "0" "c.835G>A" "r.(?)" "p.(Gly279Ser)" ""
"0001004938" "00008603" "30" "1459" "0" "1459" "0" "c.1459T>C" "r.(?)" "p.(Ser487Pro)" ""
"0001004939" "00008603" "30" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Pro513Ser)" ""
"0001004940" "00008603" "30" "1906" "0" "1906" "0" "c.1906C>T" "r.(?)" "p.(Pro636Ser)" ""
"0001004941" "00008603" "50" "2028" "0" "2028" "0" "c.2028G>T" "r.(?)" "p.(Lys676Asn)" ""
"0001004942" "00008603" "30" "2152" "0" "2152" "0" "c.2152G>A" "r.(?)" "p.(Val718Met)" ""
"0001004943" "00008603" "30" "2317" "0" "2317" "0" "c.2317C>T" "r.(?)" "p.(Pro773Ser)" ""
"0001004944" "00008603" "50" "2549" "0" "2549" "0" "c.2549C>T" "r.(?)" "p.(Pro850Leu)" ""
"0001004945" "00008603" "50" "3106" "0" "3106" "0" "c.3106A>G" "r.(?)" "p.(Lys1036Glu)" ""
"0001004946" "00008603" "30" "3325" "0" "3325" "0" "c.3325G>A" "r.(?)" "p.(Asp1109Asn)" ""
"0001004947" "00008603" "50" "4084" "0" "4084" "0" "c.4084A>G" "r.(?)" "p.(Thr1362Ala)" ""
"0001004948" "00008603" "30" "4336" "0" "4336" "0" "c.4336G>C" "r.(?)" "p.(Gly1446Arg)" ""
"0001004949" "00008603" "50" "4402" "0" "4402" "0" "c.4402G>A" "r.(?)" "p.(Gly1468Arg)" ""
"0001015816" "00008603" "70" "327" "0" "327" "0" "c.327dup" "r.(?)" "p.(Glu110Argfs*14)" ""
"0001015817" "00008603" "50" "784" "0" "784" "0" "c.784T>C" "r.(?)" "p.(Tyr262His)" ""
"0001043071" "00008603" "30" "-108" "16735" "-108" "16735" "c.-108+16735del" "r.(=)" "p.(=)" ""
"0001043073" "00008603" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Tyr46Cys)" ""
"0001056734" "00008603" "30" "4668" "0" "4668" "0" "c.4668G>A" "r.(?)" "p.(Arg1556=)" ""
"0001067228" "00008603" "50" "-5" "-1" "-5" "-1" "c.-5-1G>T" "r.spl?" "p.?" ""
"0001067229" "00008603" "50" "428" "0" "428" "0" "c.428C>G" "r.(?)" "p.(Pro143Arg)" ""
"0001067230" "00008603" "50" "731" "0" "731" "0" "c.731C>G" "r.(?)" "p.(Ala244Gly)" ""
"0001067231" "00008603" "50" "1139" "0" "1139" "0" "c.1139T>C" "r.(?)" "p.(Ile380Thr)" ""
"0001067232" "00008603" "50" "2092" "0" "2092" "0" "c.2092A>G" "r.(?)" "p.(Met698Val)" ""
"0001067233" "00008603" "50" "3825" "0" "3827" "0" "c.3825_3827dup" "r.(?)" "p.(Ser1276dup)" ""
"0001067234" "00008603" "50" "4314" "0" "4314" "0" "c.4314G>T" "r.(?)" "p.(Glu1438Asp)" ""
"0001067235" "00008603" "30" "4509" "0" "4509" "0" "c.4509C>T" "r.(?)" "p.(Ser1503=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 15
"{{screeningid}}" "{{variantid}}"
"0000104484" "0000169225"
"0000325280" "0000708253"
"0000325281" "0000708254"
"0000325282" "0000708255"
"0000325283" "0000708256"
"0000325284" "0000708257"
"0000325285" "0000708258"
"0000325286" "0000708259"
"0000325287" "0000708260"
"0000325288" "0000708261"
"0000325289" "0000708262"
"0000325290" "0000708263"
"0000325291" "0000708264"
"0000327081" "0000710713"
"0000416524" "0000874703"