### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TET3) # 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}}" "TET3" "tet methylcytosine dioxygenase 3" "2" "p13.1" "unknown" "NC_000002.11" "NC_000002.11" "" "https://www.LOVD.nl/TET3" "" "1" "28313" "200424" "613555" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-22 15:54:36" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00020989" "TET3" "tet methylcytosine dioxygenase 3" "001" "NM_144993.1" "" "NP_659430.1" "" "" "" "1" "10983" "4983" "74273450" "74335303" "" "0000-00-00 00:00:00" "" "" "00025490" "TET3" "tet methylcytosine dioxygenase 3" "003" "NM_001287491.1" "" "NP_001274420.1" "" "" "" "1" "11388" "5388" "74213531" "74335303" "00001" "2020-01-17 14:49:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "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" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06494" "BEFAHRS" "Beck-Fahrner syndrome" "AD;AR" "618798" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "TET3" "00139" "TET3" "05611" "TET3" "06494" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00275608" "" "" "" "1" "" "00006" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "white" "Fam1PatII1" "00275609" "" "" "" "1" "" "00006" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "white" "Fam2PatII1" "00275610" "" "" "" "3" "" "00006" "{PMID:Santos-Cortez 2018:30167849}, {DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "Asian" "Fam3PatII1" "00275611" "" "" "00275610" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}, {DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "F" "yes" "" "" "0" "" "" "Asian" "Fam3PatII2" "00275612" "" "" "00275610" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}, {DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "F" "yes" "" "" "0" "" "" "Asian" "Fam3PatII3" "00275613" "" "" "" "1" "" "00006" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "white" "Fam4PatII1" "00275614" "" "" "" "1" "" "00006" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "2-generation family, 1 affected, unaffected parents" "M" "" "Morocco" "" "0" "" "" "Morocco;West Indies" "Fam5PatII1" "00275615" "" "" "" "1" "" "00006" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "2-generation family, 1 affected, unaffected parents" "M" "" "Estonia;Finland" "" "0" "" "" "" "Fam6PatII1" "00275616" "" "" "" "2" "" "00006" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "2-generation family, affected father/son, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam7PatII1" "00275617" "" "" "00275616" "1" "" "00006" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "father" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam7PatI1" "00275618" "" "" "" "1" "" "00006" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "2-generation family, 1 affected, unaffected parents" "M" "" "" "" "0" "" "" "Jewish-Ashkenazi" "Fam8PatII1" "00327547" "" "" "" "5" "" "00006" "{PMID:Beck 2014:25044745}" "2-generation family, 5 affected (2F, 3M)" "F;M" "yes" "Iraq" "" "0" "" "" "" "family" "00448708" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "287239" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00275608" "00198" "00275609" "00198" "00275610" "00198" "00275611" "00198" "00275612" "00198" "00275613" "00198" "00275614" "00198" "00275615" "00198" "00275616" "00198" "00275617" "00198" "00275618" "00198" "00327547" "04214" "00448708" "06494" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 04214, 05611, 06494 ## Count = 13 "{{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}}" "0000210219" "00198" "00275608" "00006" "Familial, autosomal recessive" "7y" "birth at term, birth weight 3,370g (-0.07), length 48.3cm (-0.92); weight 41.6kg (+2.61), height 135.3cm (+2.25), OFC 57.9cm (>+2.00); mild intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; autistic features (obsessive-compulsive tendencies); difficult/delayed social interactions; anxiety, attention deficit hyperactivity disorder; seizures; EEG abnormal focus on right; tic disorder; hypotonia; no hypertonia; MRI brain increased extra-axial spaces, mild ventriculomegaly; no ophthalmological findings; cardiomegaly, valve abnormality, abnormal EKG; advanced bone age, pes planus; infantile feeding difficulties; no brachycephaly; tall or broad forehead; long face; no protruding ears; short nose, long philtrum; hypotonic face/open mouth; high arched palate" "" "" "" "" "" "" "" "" "" "Sotos syndrome" "" "0000210220" "00198" "00275609" "00006" "Familial, autosomal recessive" "3y3m" "birth 41w, birth weight 3,230g (-0.57), length 53.98cm (+1.26); weight 13.7kg (-0.37), height 100.3cm (+1.13), OFC 47cm (-1.04); global developmental delay (severe); gross motor delay; fine motor delay; speech delay; high pain tolerance; seizures; EEG abnormal; extensor posturing; hypotonia; no hypertonia; normal; nystagmus; no cardiovascular anomalies; scoliosis; feeding difficulties, G-tube, constipation; brachycephaly; tall or broad forehead; no long face; protruding ears; short nose, long philtrum; hypotonic face/open mouth; no high arched palate" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000210221" "00198" "00275610" "00006" "Familial, autosomal recessive" "21y" "birth at term, birth weight 1,360g (-4.7); weight 38kg (-5.16), height 159cm (-2.48), OFC 53cm (-2.00); moderate intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; no seizures; no other abnormal movements; hypotonia; no hypertonia; no ophthalmological findings; tall or broad forehead; long face; protruding ears; no short nose, no long philtrum; hypotonic face/open mouth" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210222" "00198" "00275611" "00006" "Familial, autosomal recessive" "24y" "birth at term; moderate intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; no seizures; no other abnormal movements; hypotonia; no hypertonia; no ophthalmological findings" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210223" "00198" "00275612" "00006" "Familial, autosomal recessive" "27y" "birth at term, birth weight 2,270g (-2.44); weight 47kg (-1.52), height 165cm (+0.26), OFC 51cm (<-2.00); moderate intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; no seizures; no other abnormal movements; hypotonia; no hypertonia; no ophthalmological findings; tall or broad forehead; long face; N" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210224" "00198" "00275613" "00006" "Isolated (sporadic)" "11m" "birth 40w, birth weight 3,865g (+0.66), length 48.26cm (-1.23), OFC 35.56cm (+0.52); weight 9.35kg (-0.06), height 75.5cm (+0.41), OFC 48.3 cmcm (+2.00); global developmental delay; gross motor delay; fine motor delay; speech delay; autistic features; difficult/delayed social interactions; no seizures; EEG normal; myoclonic movements and periodic limb movement in sleep; hypotonia; MRI brain normal; no musculoskeletal findings; feeding difficulties, gastresophageal reflux, delayed gastric emptying; brachycephaly; high arched palate" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000210225" "00198" "00275614" "00006" "Isolated (sporadic)" "7y6m" "birth at term, birth weight 4,300g (+1.49), length 53cm (+0.68); weight 27.7kg (+0.79), height 120cm (-0.88), OFC 55cm (>+2.00); global developmental delay; gross motor delay; fine motor delay; febrile partial seizures, myoclonic seizures; EEG bioccipital bi-phasic spikes, then centro-temporal spikes with continuous spikes + waves during sleep; dysmetria; hypotonia; no hypertonia; MRI brain normal (2y6m, 5y6m); no ophthalmological findings; no cardiovascular anomalies; no musculoskeletal findings; no brachycephaly; tall or broad forehead; long face; protruding ears; no short nose, no long philtrum; no hypotonic face, no open mouth; no high arched palate" "" "" "" "" "" "" "" "" "" "seizures" "" "0000210226" "00198" "00275615" "00006" "Isolated (sporadic)" "1y6m" "birth 35w, birth weight 1,475g (-2.37), length 42cm (-1.56), OFC 31cm (-0.66); weight 8.9kg (-1.85;, height 82cm (-0.10), OFC 50cm (+1.98); global developmental delay (severe); gross motor delay; fine motor delay; speech delay; autistic features (poor eye contact); difficult/delayed social interactions; no other behavioral concerns; seizures (infantile spasms); EEG epileptic activity; dystonias; hypotonia (central); hypertonia (peripheral); MRI brain periventricular leukomalacia, increased extra-axial spaces; nystagmus, strabismus, ptosis, lacrimal duct stenosis; ventricular septal defect, aortic valve insufficiency; hip dysplasia; feeding difficulties; no brachycephaly; tall or broad forehead; long face; protruding ears; short nose, long philtrum; hypotonic face/open mouth; high arched palate" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000210227" "00198" "00275616" "00006" "Familial, autosomal dominant" "11y" "birth at term, birth weight 3,170g (-0.73); weight 38.55kg (+0.36), height 134.3cm (-1.34), OFC 52.5cm (-0.67); moderate intellectual disability; global developmental delay; gross motor delay; fine motor delay; speech delay; autistic features (routine-oriented, obsessions) ; difficult/delayed social interactions; attention deficit hyperactivity disorder; no seizures; EEG normal; no other abnormal movements; no hypotonia; no hypertonia; no MRI brain ; no ophthalmological findings; no cardiovascular anomalies; joint hypermobility; no GI manifestations; brachycephaly; no tall or broad forehead; no long face; no protruding ears; short nose, long philtrum; no hypotonic face, no open mouth; no high arched palate" "" "" "" "" "" "" "" "" "" "global developmental delay" "" "0000210228" "00198" "00275617" "00006" "Isolated (sporadic)" "56y" "weight 126kg (>+2.0), height 185cm (+1.15), OFC 56.5cm (+0.67); mild/moderate intellectual disability ; global developmental delay; no autistic features; difficult/delayed social interactions; anxiety, depression; no seizures; EEG normal; no other abnormal movements; no hypotonia; no hypertonia; no MRI brain ; no ophthalmological findings; no cardiovascular anomalies; no GI manifestations; brachycephaly; no tall or broad forehead; no long face; no protruding ears; no short nose, no long philtrum; no hypotonic face, no open mouth; no high arched palate" "" "" "" "" "" "" "" "" "" "global developmental delay" "" "0000210229" "00198" "00275618" "00006" "Isolated (sporadic)" "9y11m" "birth 40w3d, birth weight 3,685g (+0.21), length 57.2cm (+2.38), OFC 34.9cm (+0.04); weight 24.3kg (-1.76), height 131cm (-1.12), OFC 52cm (-0.7); no intellectual disability; global developmental delay; gross motor delay; no fine motor delay; speech delay; autistic features; difficult/delayed social interactions; anxiety, attention deficit hyperactivity disorder; no seizures; no other abnormal movements; no hypotonia; no hypertonia; no ophthalmological findings; no cardiovascular anomalies; no musculoskeletal findings; no GI manifestations; no brachycephaly; no tall or broad forehead; no long face; no protruding ears; no short nose, no long philtrum; no hypotonic face, no open mouth; no high arched palate" "" "" "" "" "" "" "" "" "" "autism spectrum disorder" "" "0000245811" "04214" "00327547" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease" "" "" "" "" "" "" "" "" "" "" "" "0000337882" "06494" "00448708" "01164" "Isolated (sporadic)" "06y" "Neurodevelopmental delay" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000276766" "00275608" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276767" "00275609" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276768" "00275610" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276769" "00275611" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276770" "00275612" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276771" "00275613" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276772" "00275614" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276773" "00275615" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276774" "00275616" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276775" "00275617" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276776" "00275618" "1" "00006" "00006" "2020-01-11 14:20:58" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328762" "00327547" "1" "00006" "00006" "2021-01-23 14:41:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000450299" "00448708" "1" "01164" "01164" "2024-04-12 16:10:37" "" "" "SEQ-NG-I" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000276766" "TET3" "0000276767" "TET3" "0000276768" "TET3" "0000276769" "TET3" "0000276770" "TET3" "0000276771" "TET3" "0000276772" "TET3" "0000276773" "TET3" "0000276774" "TET3" "0000276775" "TET3" "0000276776" "TET3" "0000450299" "TET3" ## 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 = 65 "{{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}}" "0000316476" "0" "30" "2" "74326687" "74326687" "subst" "0" "01943" "TET3_000001" "g.74326687G>A" "" "" "" "TET3(NM_001287491.2):c.3552G>A (p.P1184=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74099560G>A" "" "likely benign" "" "0000316477" "0" "50" "2" "74328029" "74328029" "subst" "2.95212E-5" "01943" "TET3_000002" "g.74328029G>A" "" "" "" "TET3(NM_001287491.2):c.4114G>A (p.A1372T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.74100902G>A" "" "VUS" "" "0000516927" "0" "50" "2" "74273666" "74273666" "subst" "0" "01943" "TET3_000003" "g.74273666G>A" "" "" "" "TET3(NM_001287491.2):c.622G>A (p.E208K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74046539G>A" "" "VUS" "" "0000516929" "0" "30" "2" "74274064" "74274064" "subst" "0.000631236" "01943" "TET3_000005" "g.74274064C>G" "" "" "" "TET3(NM_001287491.2):c.1020C>G (p.S340=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74046937C>G" "" "likely benign" "" "0000516930" "0" "30" "2" "74300734" "74300734" "subst" "0" "01943" "TET3_000006" "g.74300734G>A" "" "" "" "TET3(NM_001287491.2):c.2553G>A (p.T851=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74073607G>A" "" "likely benign" "" "0000621119" "0" "50" "2" "74320665" "74320665" "subst" "0" "01943" "TET3_000007" "g.74320665G>C" "" "" "" "TET3(NM_001287491.2):c.3139G>C (p.E1047Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74093538G>C" "" "VUS" "" "0000630903" "11" "90" "2" "74275298" "74275298" "subst" "0.000103604" "00006" "TET3_000008" "g.74275298C>T" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.74048171C>T" "" "pathogenic (recessive)" "" "0000630904" "11" "90" "2" "74320741" "74320741" "subst" "0" "00006" "TET3_000009" "g.74320741T>G" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.74093614T>G" "" "pathogenic (recessive)" "" "0000630905" "3" "90" "2" "74314999" "74314999" "subst" "0" "00006" "TET3_000010" "g.74314999G>T" "" "{PMID:Santos-Cortez 2018:30167849}, {DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74087872G>T" "" "pathogenic (recessive)" "" "0000630906" "3" "90" "2" "74314999" "74314999" "subst" "0" "00006" "TET3_000010" "g.74314999G>T" "" "{PMID:Santos-Cortez 2018:30167849}, {DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74087872G>T" "" "pathogenic (recessive)" "" "0000630907" "3" "90" "2" "74314999" "74314999" "subst" "0" "00006" "TET3_000010" "g.74314999G>T" "" "{PMID:Santos-Cortez 2018:30167849}, {DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74087872G>T" "" "pathogenic (recessive)" "" "0000630908" "0" "90" "2" "74300733" "74300733" "subst" "0" "00006" "TET3_000011" "g.74300733C>T" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.74073606C>T" "" "pathogenic (dominant)" "" "0000630909" "0" "90" "2" "74328998" "74328998" "subst" "0" "00006" "TET3_000012" "g.74328998C>T" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.74101871C>T" "" "pathogenic (dominant)" "" "0000630910" "0" "90" "2" "74328945" "74328945" "subst" "0" "00006" "TET3_000013" "g.74328945C>T" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.74101818C>T" "" "pathogenic (dominant)" "" "0000630911" "11" "90" "2" "74328892" "74328898" "del" "0" "00006" "TET3_000014" "g.74328892_74328898del" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "Germline" "yes" "" "0" "" "" "g.74101765_74101771del" "" "pathogenic (dominant)" "" "0000630912" "0" "90" "2" "74328892" "74328898" "del" "0" "00006" "TET3_000014" "g.74328892_74328898del" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.74101765_74101771del" "" "pathogenic (dominant)" "" "0000630913" "0" "90" "2" "74274259" "74274259" "del" "0" "00006" "TET3_000015" "g.74274259del" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "De novo" "" "" "0" "" "" "g.74047132del" "" "pathogenic (dominant)" "" "0000630914" "21" "90" "2" "74320791" "74320791" "subst" "0" "00006" "TET3_000016" "g.74320791G>A" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.74093664G>A" "" "pathogenic (dominant)" "" "0000630915" "21" "90" "2" "74320752" "74320752" "subst" "0" "00006" "TET3_000017" "g.74320752G>A" "" "{DOI:Beck 2020:10.1016/j.ajhg.2019.12.007}" "" "" "" "Germline" "" "" "0" "" "" "g.74093625G>A" "" "pathogenic (dominant)" "" "0000654719" "0" "50" "2" "74328963" "74328963" "subst" "0" "02329" "TET3_000018" "g.74328963G>A" "" "" "" "TET3(NM_001287491.2):c.5048G>A (p.R1683H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.74101836G>A" "" "VUS" "" "0000688854" "0" "50" "2" "74273782" "74273782" "subst" "0" "01804" "TET3_000019" "g.74273782C>A" "" "" "" "TET3(NM_144993.1):c.333C>A (p.(Cys111Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712795" "3" "50" "2" "74274547" "74274552" "del" "0" "00000" "TET3_000020" "g.74274547_74274552del" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "" "0" "" "" "g.74047420_74047425del" "" "VUS" "" "0000800816" "0" "50" "2" "74273534" "74273534" "subst" "8.95205E-5" "01943" "TET3_000021" "g.74273534G>C" "" "" "" "TET3(NM_001287491.2):c.490G>C (p.G164R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800817" "0" "50" "2" "74273882" "74273882" "subst" "0" "02329" "TET3_000022" "g.74273882C>T" "" "" "" "TET3(NM_001287491.2):c.838C>T (p.P280S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800818" "0" "70" "2" "74274179" "74274179" "dup" "0" "02325" "TET3_000023" "g.74274179dup" "" "" "" "TET3(NM_001287491.2):c.1135dupC (p.Q379Pfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000800819" "0" "30" "2" "74274679" "74274679" "subst" "0" "01943" "TET3_000024" "g.74274679C>T" "" "" "" "TET3(NM_001287491.2):c.1635C>T (p.D545=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850027" "0" "50" "2" "74213551" "74213551" "subst" "0" "02327" "TET3_000025" "g.74213551C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850028" "0" "50" "2" "74274018" "74274018" "subst" "0" "02327" "TET3_000026" "g.74274018G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850029" "0" "70" "2" "74274189" "74274189" "del" "0" "02327" "TET3_000027" "g.74274189del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000850030" "0" "50" "2" "74274914" "74274914" "subst" "4.07375E-5" "02327" "TET3_000028" "g.74274914G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885395" "0" "90" "2" "74274243" "74274243" "dup" "0" "02326" "TET3_000029" "g.74274243dup" "" "" "" "TET3(NM_001287491.2):c.1199dupA (p.Y400*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885396" "0" "50" "2" "74274378" "74274378" "subst" "4.06147E-5" "02325" "TET3_000030" "g.74274378C>T" "" "" "" "TET3(NM_001287491.2):c.1334C>T (p.T445M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885397" "0" "50" "2" "74300766" "74300766" "subst" "0" "02327" "TET3_000031" "g.74300766G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885398" "0" "30" "2" "74315040" "74315040" "subst" "0" "02325" "TET3_000032" "g.74315040C>T" "" "" "" "TET3(NM_001287491.2):c.2763C>T (p.I921=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885399" "0" "50" "2" "74327798" "74327798" "subst" "0.000438664" "02325" "TET3_000033" "g.74327798G>A" "" "" "" "TET3(NM_001287491.2):c.3883G>A (p.(Val1295Ile), p.V1295I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911780" "0" "70" "2" "74274802" "74274803" "dup" "0" "02327" "TET3_000034" "g.74274802_74274803dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911781" "0" "70" "2" "74328945" "74328945" "subst" "0" "02325" "TET3_000013" "g.74328945C>T" "" "" "" "TET3(NM_001287491.2):c.5030C>T (p.P1677L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923781" "0" "50" "2" "74274768" "74274768" "subst" "0.000118755" "02325" "TET3_000035" "g.74274768C>A" "" "" "" "TET3(NM_001287491.2):c.1724C>A (p.(Pro575His), p.P575H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923782" "0" "50" "2" "74328420" "74328420" "subst" "0" "02325" "TET3_000036" "g.74328420C>T" "" "" "" "TET3(NM_001287491.2):c.4505C>T (p.S1502F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928657" "0" "50" "2" "74275412" "74275412" "subst" "8.21038E-6" "02325" "TET3_000037" "g.74275412C>G" "" "" "" "TET3(NM_001287491.2):c.2368C>G (p.P790A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962293" "0" "50" "2" "74274219" "74274219" "subst" "0.000101525" "02325" "TET3_000038" "g.74274219C>T" "" "" "" "TET3(NM_001287491.2):c.1175C>T (p.A392V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972272" "0" "70" "2" "74329158" "74329158" "del" "0" "01164" "TET3_000039" "g.74329158del" "" "" "" "" "ACMG: PS2, PVS1_MOD, PM2_SUP" "De novo" "-" "" "" "" "" "g.74102031del" "SCV004107918.2" "likely pathogenic (dominant)" "ACMG" "0000975422" "0" "50" "2" "74273706" "74273706" "subst" "0" "01804" "TET3_000040" "g.74273706A>G" "" "" "" "TET3(NM_001287491.2):c.662A>G (p.(Tyr221Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975423" "0" "30" "2" "74300275" "74300275" "subst" "0" "01804" "TET3_000041" "g.74300275G>A" "" "" "" "TET3(NM_001287491.2):c.2495-401G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975424" "0" "30" "2" "74314947" "74314947" "subst" "0.000111752" "01804" "TET3_000042" "g.74314947G>A" "" "" "" "TET3(NM_001287491.2):c.2680-10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975425" "0" "30" "2" "74326394" "74326394" "subst" "0" "01804" "TET3_000043" "g.74326394T>C" "" "" "" "TET3(NM_001287491.2):c.3268-9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975426" "0" "50" "2" "74326659" "74326661" "del" "0" "01804" "TET3_000044" "g.74326659_74326661del" "" "" "" "TET3(NM_001287491.2):c.3524_3526del (p.(Lys1175del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975427" "0" "50" "2" "74327895" "74327896" "ins" "0" "01804" "TET3_000045" "g.74327895_74327896insACTGAG" "" "" "" "TET3(NM_001287491.2):c.3980_3981insACTGAG (p.(Asn1326_Ser1327insArgLeu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975428" "0" "50" "2" "74327994" "74327994" "subst" "0" "01804" "TET3_000046" "g.74327994C>T" "" "" "" "TET3(NM_001287491.2):c.4079C>T (p.(Ala1360Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975429" "0" "50" "2" "74329152" "74329152" "subst" "0.00064923" "01804" "TET3_000047" "g.74329152G>T" "" "" "" "TET3(NM_001287491.2):c.5237G>T (p.(Trp1746Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993012" "0" "30" "2" "74213612" "74213612" "subst" "0" "01804" "TET3_000048" "g.74213612G>A" "" "" "" "TET3(NM_001287491.1):c.82G>A (p.(Ala28Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993013" "0" "30" "2" "74274147" "74274147" "subst" "4.062E-6" "01804" "TET3_000049" "g.74274147C>T" "" "" "" "TET3(NM_001287491.1):c.1103C>T (p.(Pro368Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993014" "0" "70" "2" "74327752" "74327752" "subst" "0" "02327" "TET3_000050" "g.74327752C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000993015" "0" "50" "2" "74328879" "74328879" "subst" "0" "01804" "TET3_000051" "g.74328879C>T" "" "" "" "TET3(NM_001287491.1):c.4964C>T (p.(Pro1655Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013785" "0" "70" "2" "74326583" "74326583" "subst" "0" "02329" "TET3_000052" "g.74326583C>T" "" "" "" "TET3(NM_001287491.2):c.3448C>T (p.R1150*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033479" "0" "50" "2" "74273843" "74273843" "subst" "8.13888E-6" "01804" "TET3_000053" "g.74273843A>T" "" "" "" "TET3(NM_001287491.2):c.799A>T (p.(Met267Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033480" "0" "50" "2" "74274233" "74274233" "subst" "1.21831E-5" "01804" "TET3_000054" "g.74274233C>T" "" "" "" "TET3(NM_001287491.2):c.1189C>T (p.(Pro397Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033481" "0" "50" "2" "74274695" "74274695" "subst" "1.22055E-5" "01804" "TET3_000055" "g.74274695C>T" "" "" "" "TET3(NM_001287491.2):c.1651C>T (p.(Pro551Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033482" "0" "50" "2" "74274768" "74274768" "subst" "0.000118755" "01804" "TET3_000035" "g.74274768C>A" "" "" "" "TET3(NM_001287491.2):c.1724C>A (p.(Pro575His), p.P575H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033483" "0" "30" "2" "74275226" "74275226" "subst" "0.000516889" "01804" "TET3_000056" "g.74275226C>G" "" "" "" "TET3(NM_001287491.2):c.2182C>G (p.(Pro728Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033484" "0" "30" "2" "74314943" "74314943" "subst" "7.08265E-6" "01804" "TET3_000057" "g.74314943C>T" "" "" "" "TET3(NM_001287491.2):c.2680-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033485" "0" "50" "2" "74327798" "74327798" "subst" "0.000438664" "01804" "TET3_000033" "g.74327798G>A" "" "" "" "TET3(NM_001287491.2):c.3883G>A (p.(Val1295Ile), p.V1295I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033486" "0" "50" "2" "74328078" "74328078" "subst" "0" "01804" "TET3_000058" "g.74328078G>A" "" "" "" "TET3(NM_001287491.2):c.4163G>A (p.(Ser1388Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033487" "0" "50" "2" "74328207" "74328207" "subst" "0" "01804" "TET3_000059" "g.74328207C>G" "" "" "" "TET3(NM_001287491.2):c.4292C>G (p.(Pro1431Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033488" "0" "50" "2" "74329187" "74329190" "del" "0" "01804" "TET3_000060" "g.74329187_74329190del" "" "" "" "TET3(NM_001287491.2):c.5272_5275del (p.(Glu1758Argfs*95))" "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 TET3 ## Count = 128 "{{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}}" "0000316476" "00025490" "30" "3552" "0" "3552" "0" "c.3552G>A" "r.(?)" "p.(Pro1184=)" "" "0000316476" "00020989" "30" "3147" "0" "3147" "0" "c.3147G>A" "r.(?)" "p.(Pro1049=)" "" "0000316477" "00025490" "50" "4114" "0" "4114" "0" "c.4114G>A" "r.(?)" "p.(Ala1372Thr)" "" "0000316477" "00020989" "50" "3709" "0" "3709" "0" "c.3709G>A" "r.(?)" "p.(Ala1237Thr)" "" "0000516927" "00025490" "50" "622" "0" "622" "0" "c.622G>A" "r.(?)" "p.(Glu208Lys)" "" "0000516927" "00020989" "50" "217" "0" "217" "0" "c.217G>A" "r.(?)" "p.(Glu73Lys)" "" "0000516929" "00025490" "30" "1020" "0" "1020" "0" "c.1020C>G" "r.(?)" "p.(Ser340=)" "" "0000516929" "00020989" "30" "615" "0" "615" "0" "c.615C>G" "r.(?)" "p.(Ser205=)" "" "0000516930" "00025490" "30" "2553" "0" "2553" "0" "c.2553G>A" "r.(?)" "p.(Thr851=)" "" "0000516930" "00020989" "30" "2148" "0" "2148" "0" "c.2148G>A" "r.(?)" "p.(Thr716=)" "" "0000621119" "00025490" "50" "3139" "0" "3139" "0" "c.3139G>C" "r.(?)" "p.(Glu1047Gln)" "" "0000621119" "00020989" "50" "2734" "0" "2734" "0" "c.2734G>C" "r.(?)" "p.(Glu912Gln)" "" "0000630903" "00025490" "90" "2254" "0" "2254" "0" "c.2254C>T" "r.(?)" "p.(Arg752Cys)" "" "0000630903" "00020989" "90" "1849" "0" "1849" "0" "c.1849C>T" "" "p.(Arg617Cys)" "" "0000630904" "00025490" "90" "3215" "0" "3215" "0" "c.3215T>G" "r.(?)" "p.(Phe1072Cys)" "" "0000630904" "00020989" "90" "2810" "0" "2810" "0" "c.2810T>G" "r.(?)" "p.(Phe937Cys)" "" "0000630905" "00025490" "90" "2722" "0" "2722" "0" "c.2722G>T" "r.(?)" "p.(Val908Leu)" "" "0000630905" "00020989" "90" "2317" "0" "2317" "0" "c.2317G>T" "" "p.[(Val773Leu),?]" "" "0000630906" "00025490" "90" "2722" "0" "2722" "0" "c.2722G>T" "r.(?)" "p.(Val908Leu)" "" "0000630906" "00020989" "90" "2317" "0" "2317" "0" "c.2317G>T" "" "p.[(Val773Leu),?]" "" "0000630907" "00025490" "90" "2722" "0" "2722" "0" "c.2722G>T" "r.spl" "p.(Val908Leu)" "" "0000630907" "00020989" "90" "2317" "0" "2317" "0" "c.2317G>T" "r.spl" "p.[(Val773Leu),?]" "" "0000630908" "00025490" "90" "2552" "0" "2552" "0" "c.2552C>T" "r.(?)" "p.(Thr851Met)" "" "0000630908" "00020989" "90" "2147" "0" "2147" "0" "c.2147C>T" "" "p.(Thr716Met)" "" "0000630909" "00025490" "90" "5083" "0" "5083" "0" "c.5083C>T" "r.(?)" "p.(Gln1695*)" "" "0000630909" "00020989" "90" "4678" "0" "4678" "0" "c.4678C>T" "r.(?)" "p.(Gln1560*)" "" "0000630910" "00025490" "90" "5030" "0" "5030" "0" "c.5030C>T" "r.(?)" "p.(Pro1677Leu)" "" "0000630910" "00020989" "90" "4625" "0" "4625" "0" "c.4625C>T" "r.(?)" "p.(Pro1542Leu)" "" "0000630911" "00025490" "90" "4977" "0" "4983" "0" "c.4977_4983del" "r.(?)" "p.(His1660Profs*52)" "" "0000630911" "00020989" "90" "4572" "0" "4578" "0" "c.4572_4578del" "r.(?)" "p.(His1525Profs*52)" "" "0000630912" "00025490" "90" "4977" "0" "4983" "0" "c.4977_4983del" "r.(?)" "p.(His1660Profs*52)" "" "0000630912" "00020989" "90" "4572" "0" "4578" "0" "c.4572_4578del" "" "p.(His1525Profs*52)" "" "0000630913" "00025490" "90" "1215" "0" "1215" "0" "c.1215del" "r.(?)" "p.(Trp406Glyfs*135)" "" "0000630913" "00020989" "90" "810" "0" "810" "0" "c.810del" "" "p.(Trp271Glyfs*135)" "" "0000630914" "00025490" "90" "3265" "0" "3265" "0" "c.3265G>A" "r.(?)" "p.(Val1089Met)" "" "0000630914" "00020989" "90" "2860" "0" "2860" "0" "c.2860G>A" "r.(?)" "p.(Val954Met)" "" "0000630915" "00025490" "90" "3226" "0" "3226" "0" "c.3226G>A" "r.(?)" "p.(Ala1076Thr)" "" "0000630915" "00020989" "90" "2821" "0" "2821" "0" "c.2821G>A" "r.(?)" "p.(Ala941Thr)" "" "0000654719" "00025490" "50" "5048" "0" "5048" "0" "c.5048G>A" "r.(?)" "p.(Arg1683His)" "" "0000654719" "00020989" "50" "4643" "0" "4643" "0" "c.4643G>A" "r.(?)" "p.(Arg1548His)" "" "0000688854" "00025490" "50" "738" "0" "738" "0" "c.738C>A" "r.(?)" "p.(Cys246Ter)" "" "0000688854" "00020989" "50" "333" "0" "333" "0" "c.333C>A" "r.(?)" "p.(Cys111Ter)" "" "0000712795" "00020989" "50" "1098" "0" "1103" "0" "c.1098_1103del" "r.(?)" "p.(Ala367_Pro368del)" "" "0000800816" "00025490" "50" "490" "0" "490" "0" "c.490G>C" "r.(?)" "p.(Gly164Arg)" "" "0000800816" "00020989" "50" "85" "0" "85" "0" "c.85G>C" "r.(?)" "p.(Gly29Arg)" "" "0000800817" "00025490" "50" "838" "0" "838" "0" "c.838C>T" "r.(?)" "p.(Pro280Ser)" "" "0000800817" "00020989" "50" "433" "0" "433" "0" "c.433C>T" "r.(?)" "p.(Pro145Ser)" "" "0000800818" "00025490" "70" "1135" "0" "1135" "0" "c.1135dup" "r.(?)" "p.(Gln379Profs*8)" "" "0000800818" "00020989" "70" "730" "0" "730" "0" "c.730dup" "r.(?)" "p.(Gln244Profs*8)" "" "0000800819" "00025490" "30" "1635" "0" "1635" "0" "c.1635C>T" "r.(?)" "p.(Asp545=)" "" "0000800819" "00020989" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Asp410=)" "" "0000850027" "00025490" "50" "21" "0" "21" "0" "c.21C>T" "r.(?)" "p.(Pro7=)" "" "0000850027" "00020989" "50" "-59899" "0" "-59899" "0" "c.-59899C>T" "r.(?)" "p.(=)" "" "0000850028" "00025490" "50" "974" "0" "974" "0" "c.974G>C" "r.(?)" "p.(Ser325Thr)" "" "0000850028" "00020989" "50" "569" "0" "569" "0" "c.569G>C" "r.(?)" "p.(Ser190Thr)" "" "0000850029" "00025490" "70" "1145" "0" "1145" "0" "c.1145del" "r.(?)" "p.(Cys382Serfs*159)" "" "0000850029" "00020989" "70" "740" "0" "740" "0" "c.740del" "r.(?)" "p.(Cys247Serfs*159)" "" "0000850030" "00025490" "50" "1870" "0" "1870" "0" "c.1870G>A" "r.(?)" "p.(Val624Ile)" "" "0000850030" "00020989" "50" "1465" "0" "1465" "0" "c.1465G>A" "r.(?)" "p.(Val489Ile)" "" "0000885395" "00025490" "90" "1199" "0" "1199" "0" "c.1199dup" "r.(?)" "p.(Tyr400*)" "" "0000885395" "00020989" "90" "794" "0" "794" "0" "c.794dup" "r.(?)" "p.(Tyr265*)" "" "0000885396" "00025490" "50" "1334" "0" "1334" "0" "c.1334C>T" "r.(?)" "p.(Thr445Met)" "" "0000885396" "00020989" "50" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Thr310Met)" "" "0000885397" "00025490" "50" "2585" "0" "2585" "0" "c.2585G>A" "r.(?)" "p.(Arg862Gln)" "" "0000885397" "00020989" "50" "2180" "0" "2180" "0" "c.2180G>A" "r.(?)" "p.(Arg727Gln)" "" "0000885398" "00025490" "30" "2763" "0" "2763" "0" "c.2763C>T" "r.(?)" "p.(Ile921=)" "" "0000885398" "00020989" "30" "2358" "0" "2358" "0" "c.2358C>T" "r.(?)" "p.(Ile786=)" "" "0000885399" "00025490" "50" "3883" "0" "3883" "0" "c.3883G>A" "r.(?)" "p.(Val1295Ile)" "" "0000885399" "00020989" "50" "3478" "0" "3478" "0" "c.3478G>A" "r.(?)" "p.(Val1160Ile)" "" "0000911780" "00025490" "70" "1758" "0" "1759" "0" "c.1758_1759dup" "r.(?)" "p.(Gly587Valfs*98)" "" "0000911780" "00020989" "70" "1353" "0" "1354" "0" "c.1353_1354dup" "r.(?)" "p.(Gly452Valfs*98)" "" "0000911781" "00025490" "70" "5030" "0" "5030" "0" "c.5030C>T" "r.(?)" "p.(Pro1677Leu)" "" "0000911781" "00020989" "70" "4625" "0" "4625" "0" "c.4625C>T" "r.(?)" "p.(Pro1542Leu)" "" "0000923781" "00025490" "50" "1724" "0" "1724" "0" "c.1724C>A" "r.(?)" "p.(Pro575His)" "" "0000923781" "00020989" "50" "1319" "0" "1319" "0" "c.1319C>A" "r.(?)" "p.(Pro440His)" "" "0000923782" "00025490" "50" "4505" "0" "4505" "0" "c.4505C>T" "r.(?)" "p.(Ser1502Phe)" "" "0000923782" "00020989" "50" "4100" "0" "4100" "0" "c.4100C>T" "r.(?)" "p.(Ser1367Phe)" "" "0000928657" "00025490" "50" "2368" "0" "2368" "0" "c.2368C>G" "r.(?)" "p.(Pro790Ala)" "" "0000928657" "00020989" "50" "1963" "0" "1963" "0" "c.1963C>G" "r.(?)" "p.(Pro655Ala)" "" "0000962293" "00025490" "50" "1175" "0" "1175" "0" "c.1175C>T" "r.(?)" "p.(Ala392Val)" "" "0000962293" "00020989" "50" "770" "0" "770" "0" "c.770C>T" "r.(?)" "p.(Ala257Val)" "" "0000972272" "00025490" "70" "5243" "0" "5243" "0" "c.5243del" "r.(?)" "p.(Gly1748Alafs*106)" "12" "0000975422" "00025490" "50" "662" "0" "662" "0" "c.662A>G" "r.(?)" "p.(Tyr221Cys)" "" "0000975422" "00020989" "50" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(Tyr86Cys)" "" "0000975423" "00025490" "30" "2495" "-401" "2495" "-401" "c.2495-401G>A" "r.(=)" "p.(=)" "" "0000975423" "00020989" "30" "2090" "-401" "2090" "-401" "c.2090-401G>A" "r.(=)" "p.(=)" "" "0000975424" "00025490" "30" "2680" "-10" "2680" "-10" "c.2680-10G>A" "r.(=)" "p.(=)" "" "0000975424" "00020989" "30" "2275" "-10" "2275" "-10" "c.2275-10G>A" "r.(=)" "p.(=)" "" "0000975425" "00025490" "30" "3268" "-9" "3268" "-9" "c.3268-9T>C" "r.(=)" "p.(=)" "" "0000975425" "00020989" "30" "2863" "-9" "2863" "-9" "c.2863-9T>C" "r.(=)" "p.(=)" "" "0000975426" "00025490" "50" "3524" "0" "3526" "0" "c.3524_3526del" "r.(?)" "p.(Lys1175del)" "" "0000975426" "00020989" "50" "3119" "0" "3121" "0" "c.3119_3121del" "r.(?)" "p.(Lys1040del)" "" "0000975427" "00025490" "50" "3980" "0" "3981" "0" "c.3980_3981insACTGAG" "r.(?)" "p.(Asn1326_Ser1327insArgLeu)" "" "0000975427" "00020989" "50" "3575" "0" "3576" "0" "c.3575_3576insACTGAG" "r.(?)" "p.(Asn1191_Ser1192insArgLeu)" "" "0000975428" "00025490" "50" "4079" "0" "4079" "0" "c.4079C>T" "r.(?)" "p.(Ala1360Val)" "" "0000975428" "00020989" "50" "3674" "0" "3674" "0" "c.3674C>T" "r.(?)" "p.(Ala1225Val)" "" "0000975429" "00025490" "50" "5237" "0" "5237" "0" "c.5237G>T" "r.(?)" "p.(Trp1746Leu)" "" "0000975429" "00020989" "50" "4832" "0" "4832" "0" "c.4832G>T" "r.(?)" "p.(Trp1611Leu)" "" "0000993012" "00025490" "30" "82" "0" "82" "0" "c.82G>A" "r.(?)" "p.(Gly28Arg)" "" "0000993012" "00020989" "30" "-59838" "0" "-59838" "0" "c.-59838G>A" "r.(?)" "p.(=)" "" "0000993013" "00025490" "30" "1103" "0" "1103" "0" "c.1103C>T" "r.(?)" "p.(Ser368Phe)" "" "0000993013" "00020989" "30" "698" "0" "698" "0" "c.698C>T" "r.(?)" "p.(Ser233Phe)" "" "0000993014" "00025490" "70" "3837" "0" "3837" "0" "c.3837C>A" "r.(?)" "p.(Tyr1279*)" "" "0000993014" "00020989" "70" "3432" "0" "3432" "0" "c.3432C>A" "r.(?)" "p.(Tyr1144*)" "" "0000993015" "00025490" "50" "4964" "0" "4964" "0" "c.4964C>T" "r.(?)" "p.(Ala1655Val)" "" "0000993015" "00020989" "50" "4559" "0" "4559" "0" "c.4559C>T" "r.(?)" "p.(Ala1520Val)" "" "0001013785" "00025490" "70" "3448" "0" "3448" "0" "c.3448C>T" "r.(?)" "p.(Arg1150*)" "" "0001013785" "00020989" "70" "3043" "0" "3043" "0" "c.3043C>T" "r.(?)" "p.(Arg1015*)" "" "0001033479" "00025490" "50" "799" "0" "799" "0" "c.799A>T" "r.(?)" "p.(Met267Leu)" "" "0001033479" "00020989" "50" "394" "0" "394" "0" "c.394A>T" "r.(?)" "p.(Met132Leu)" "" "0001033480" "00025490" "50" "1189" "0" "1189" "0" "c.1189C>T" "r.(?)" "p.(Pro397Ser)" "" "0001033480" "00020989" "50" "784" "0" "784" "0" "c.784C>T" "r.(?)" "p.(Pro262Ser)" "" "0001033481" "00025490" "50" "1651" "0" "1651" "0" "c.1651C>T" "r.(?)" "p.(Pro551Ser)" "" "0001033481" "00020989" "50" "1246" "0" "1246" "0" "c.1246C>T" "r.(?)" "p.(Pro416Ser)" "" "0001033482" "00025490" "50" "1724" "0" "1724" "0" "c.1724C>A" "r.(?)" "p.(Pro575His)" "" "0001033482" "00020989" "50" "1319" "0" "1319" "0" "c.1319C>A" "r.(?)" "p.(Pro440His)" "" "0001033483" "00025490" "30" "2182" "0" "2182" "0" "c.2182C>G" "r.(?)" "p.(Pro728Ala)" "" "0001033483" "00020989" "30" "1777" "0" "1777" "0" "c.1777C>G" "r.(?)" "p.(Pro593Ala)" "" "0001033484" "00025490" "30" "2680" "-14" "2680" "-14" "c.2680-14C>T" "r.(=)" "p.(=)" "" "0001033484" "00020989" "30" "2275" "-14" "2275" "-14" "c.2275-14C>T" "r.(=)" "p.(=)" "" "0001033485" "00025490" "50" "3883" "0" "3883" "0" "c.3883G>A" "r.(?)" "p.(Val1295Ile)" "" "0001033485" "00020989" "50" "3478" "0" "3478" "0" "c.3478G>A" "r.(?)" "p.(Val1160Ile)" "" "0001033486" "00025490" "50" "4163" "0" "4163" "0" "c.4163G>A" "r.(?)" "p.(Ser1388Asn)" "" "0001033486" "00020989" "50" "3758" "0" "3758" "0" "c.3758G>A" "r.(?)" "p.(Ser1253Asn)" "" "0001033487" "00025490" "50" "4292" "0" "4292" "0" "c.4292C>G" "r.(?)" "p.(Pro1431Arg)" "" "0001033487" "00020989" "50" "3887" "0" "3887" "0" "c.3887C>G" "r.(?)" "p.(Pro1296Arg)" "" "0001033488" "00025490" "50" "5272" "0" "5275" "0" "c.5272_5275del" "r.(?)" "p.(Glu1758Argfs*95)" "" "0001033488" "00020989" "50" "4867" "0" "4870" "0" "c.4867_4870del" "r.(?)" "p.(Glu1623Argfs*95)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000276766" "0000630903" "0000276766" "0000630914" "0000276767" "0000630904" "0000276767" "0000630915" "0000276768" "0000630905" "0000276769" "0000630906" "0000276770" "0000630907" "0000276771" "0000630908" "0000276772" "0000630909" "0000276773" "0000630910" "0000276774" "0000630911" "0000276775" "0000630912" "0000276776" "0000630913" "0000328762" "0000712795" "0000450299" "0000972272"