### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDCD10) # 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}}" "PDCD10" "programmed cell death 10" "3" "q26.1" "unknown" "NG_008158.1" "UD_132119170052" "" "https://www.LOVD.nl/PDCD10" "" "1" "8761" "11235" "609118" "1" "1" "1" "1" " This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases, curated by the Laboratory of Human Molecular Genetics, de Duve Institute, Brussels (Belgium).\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/PDCD10_codingDNA.html" "1" "" "
This database is one of the \"Vascular anomalies and lymphedema\" gene variant databases." "-1" "" "-1" "00000" "2010-03-09 00:00:00" "00006" "2022-06-17 15:05:59" "00000" "2025-11-01 13:22:20" ## 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}}" "00001131" "PDCD10" "transcript variant 1" "003" "NM_007217.3" "" "NP_009148.2" "" "" "" "-398" "1041" "639" "167401694" "167452594" "00000" "2012-09-13 13:13:58" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00459" "CCM" "cerebral cavernous malformations (CCM)" "" "" "" "" "" "00006" "2014-07-18 15:09:38" "00006" "2018-02-20 09:44:39" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02449" "CCM3" "cerebral cavernous malformations, type 3 (CCM-3)" "" "603285" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PDCD10" "00459" "PDCD10" "02449" ## Individuals ## Do not remove or alter this header ## ## Count = 25 "{{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}}" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00153316" "" "" "" "1" "" "02390" "" "" "M" "no" "Taiwan" "" "0" "" "" "" "" "00165081" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165082" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165083" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165085" "" "" "" "1" "" "02515" "" "" "" "" "Italy" "" "0" "" "" "" "?" "00165700" "" "" "" "1" "" "02515" "{PMID:Nardella 2018:30161288}" "family, 1 affected" "" "" "Italy" "" "0" "" "" "white" "?" "00170860" "" "" "" "1" "" "02515" "" "" "F" "?" "Italy" "" "0" "" "" "" "36" "00170861" "" "" "" "1" "" "02515" "" "" "M" "?" "Italy" "" "0" "" "" "" "38" "00170862" "" "" "" "1" "" "02515" "" "" "M" "?" "Italy" "" "0" "" "" "" "39" "00170863" "" "" "" "1" "" "02515" "" "" "F" "" "Italy" "" "0" "" "" "" "40" "00411198" "" "" "" "1" "" "04329" "" "patient had both DMD and CCM" "M" "no" "China" "" "0" "" "" "Asian" "" "00418518" "" "" "" "1" "" "00006" "{PMID:He 2022:35121647}" "" "" "" "China" "" "0" "" "" "" "Fam15" "00419079" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419080" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419081" "" "" "" "2" "" "00006" "{PMID:Nardella 2018:30161288}" "family, 2 affected" "M" "" "Italy" "" "0" "" "" "" "sporadic" "00419082" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419083" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419084" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00419085" "" "" "" "4" "" "00006" "{PMID:Nardella 2018:30161288}" "3-generation family, family, 4 affected (2F, 2M)" "M" "" "Italy" "" "0" "" "" "" "FamVIIIPatII2" "00419086" "" "" "00419085" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "daughter" "F" "" "Italy" "" "0" "" "" "" "FamVIIIPatIII1" "00419087" "" "" "00419085" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "daughter" "F" "" "Italy" "" "0" "" "" "" "FamVIIIPatIII2" "00419088" "" "" "00419085" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "son" "M" "" "Italy" "" "0" "" "" "" "FamVIIIPatIII3" "00419089" "" "" "" "1" "" "00006" "{PMID:Nardella 2018:30161288}" "" "" "" "Italy" "" "0" "" "" "" "" "00467713" "" "" "" "1" "" "00006" "{PMID:Guo 2022:35858850}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "" "China" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00000209" "01157" "00153316" "02449" "00165081" "00459" "00165082" "00459" "00165083" "00459" "00165085" "00459" "00165700" "00459" "00170860" "02449" "00170861" "02449" "00170862" "02449" "00170863" "02449" "00411198" "00459" "00411198" "05324" "00418518" "00198" "00419079" "00459" "00419080" "00459" "00419081" "00459" "00419082" "00459" "00419083" "00459" "00419084" "00459" "00419085" "00459" "00419086" "00459" "00419087" "00459" "00419088" "00459" "00419089" "00459" "00467713" "00459" "00467713" "05324" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00459, 01157, 02449, 05324 ## Count = 26 "{{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}}" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000125997" "02449" "00153316" "02390" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129952" "00459" "00165081" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-3" "cerebral cavernous malformations" "" "0000129953" "00459" "00165082" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-3" "cerebral cavernous malformations" "" "0000129954" "00459" "00165083" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-3" "cerebral cavernous malformations" "" "0000129956" "00459" "00165085" "02515" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "CCM-3" "cerebral cavernous malformations" "" "0000130564" "00459" "00165700" "02515" "Familial, autosomal dominant" "" "Headache (HP:0002076), Sovratentorial hemangiomas, Behavioural psychiatric abnormalities (HP:0000708)" "" "" "" "" "" "" "" "" "CCM-1" "cerebral cavernous malformations" "" "0000135724" "02449" "00170860" "02515" "Familial" "" "Intracranial haemorrhage, fatigable weakness of skeletal, Hemiparesis (HP:0001269), Sovratentorial hemangiomas" "" "" "" "" "" "" "" "" "" "" "" "0000135725" "02449" "00170861" "02515" "Familial" "" "Behavioural psychiatric abnormalities (HP:0000708), Cerebellar hemangiomas" "" "" "" "" "" "" "" "" "" "" "" "0000135726" "02449" "00170862" "02515" "Familial" "" "Behavioural psychiatric abnormalities (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "0000135727" "02449" "00170863" "02515" "Familial" "" "Headache (HP:0002076), Behavioural psychiatric abnormalities (HP:0000708), Sovratentorial hemangiomas" "" "" "" "" "" "" "" "" "" "" "" "0000303274" "00459" "00411198" "04329" "Isolated (sporadic)" "07y" "abnormal cerebral vascular morphology (HP:0100659), no seizures (-HP:0001250), no paralysis (-HP:0003470), no headache (-HP:0002315)" "" "07y" "" "" "" "" "" "" "CCM3" "Cerebral Cavernous Malformations" "" "0000303275" "05324" "00411198" "04329" "Familial, X-linked recessive" "07y" "Gowers sign (HP:0003391), generalized hypotoniav (HP:0001290), calf muscle pseudohypertrophy (HP:0003707), waddling gait (HP:0002515), elevated circulating creatine kinase concentration (HP:0003236)" "02y" "07y" "lower limb muscle weakness (HP:0007340)" "" "" "" "" "" "DMD" "muscular dystrophy" "" "0000310366" "00459" "00419079" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310367" "00459" "00419080" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310368" "00459" "00419081" "00006" "Familial, autosomal dominant" "50y" "spinal hemangiomas" "50y" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310369" "00459" "00419082" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310370" "00459" "00419083" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310371" "00459" "00419084" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310372" "00459" "00419085" "00006" "Familial, autosomal dominant" "54y" "headache/migraine (HP:0002076); intracranial hemorrhage; behavioral abnormalities (HP:0000708); sovratentorial hemangiomas; cerebellar hemangiomas; bilateral lesions" "40y" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310373" "00459" "00419086" "00006" "Familial, autosomal dominant" "23y" "intracranial hemorrhage; fatigable weakness skeletal muscles (HP:0030197); hemiparesis (HP:0001269); spinal hemangiomas" "18y" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310374" "00459" "00419087" "00006" "Familial, autosomal dominant" "19y" "behavioral abnormalities (HP:0000708); cerebellar hemangiomas" "21y" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310375" "00459" "00419088" "00006" "Familial, autosomal dominant" "21y" "behavioral abnormalities (HP:0000708)" "18y" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000310376" "00459" "00419089" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "CCM3" "cerebral cavernous malformations" "" "0000352878" "05324" "00467713" "00006" "Familial, X-linked recessive" "07y" "see paper; ..., 2y-weakness in both lower limbs; 6y-Gowers’ sign (difficulty going upstairs, gait with peculiar oscillating characters, characteristic ways to rise from floor), cannot run/jump, reduced strength both upper limbs; bilateral gastrocnemius muscle hypertrophy, contracture bilateral ankle joint, foot drop; significantly increased serum CK (34x)" "" "" "" "" "" "" "" "" "DMD" "muscle weakness" "" "0000352879" "00459" "00467713" "00006" "Isolated (sporadic)" "07y" "multiple abnormal signals frontotemporal/parietal lobes, brainstem, right basal ganglia, and right cerebellar hemisphere" "" "" "" "" "" "" "" "" "CCM3" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 25 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000154179" "00153316" "1" "02390" "02390" "2018-02-13 13:54:14" "00006" "2018-02-13 22:48:41" "PCR;SEQ" "DNA" "" "" "0000165953" "00165081" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165954" "00165082" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165955" "00165083" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000165957" "00165085" "1" "02515" "02515" "2018-06-21 10:41:13" "" "" "SEQ" "DNA" "" "" "0000166579" "00165700" "1" "02515" "00008" "2018-07-11 16:54:03" "" "" "SEQ" "DNA" "blood" "" "0000171743" "00170860" "1" "02515" "02515" "2018-07-27 11:07:42" "" "" "SEQ" "DNA" "" "" "0000171744" "00170861" "1" "02515" "02515" "2018-07-27 11:14:32" "" "" "SEQ" "DNA" "" "" "0000171745" "00170862" "1" "02515" "02515" "2018-07-27 11:18:17" "00006" "2018-07-30 16:41:03" "arrayCGH" "DNA" "" "" "0000171746" "00170863" "1" "02515" "02515" "2018-07-27 11:23:49" "" "" "SEQ" "DNA" "" "" "0000412464" "00411198" "1" "04329" "04329" "2022-06-08 06:56:37" "" "" "-" "DNA" "" "WGS (whole genome sequencing)" "0000419813" "00418518" "1" "00006" "00006" "2022-09-29 15:33:30" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "blood" "WES" "0000420377" "00419079" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420378" "00419080" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420379" "00419081" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420380" "00419082" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420381" "00419083" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420382" "00419084" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000420383" "00419085" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "MLPA;SEQ" "DNA" "" "" "0000420384" "00419086" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "MLPA;SEQ" "DNA" "" "" "0000420385" "00419087" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "MLPA;SEQ" "DNA" "" "" "0000420386" "00419088" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "MLPA;SEQ" "DNA" "" "" "0000420387" "00419089" "1" "00006" "00006" "2022-10-14 17:28:02" "" "" "SEQ" "DNA" "" "" "0000469379" "00467713" "1" "00006" "00006" "2025-10-27 19:37:02" "" "" "MLPA;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000154179" "PDCD10" "0000165953" "PDCD10" "0000165954" "PDCD10" "0000165955" "PDCD10" "0000165957" "PDCD10" "0000166579" "PDCD10" "0000171743" "PDCD10" "0000171744" "PDCD10" "0000171745" "PDCD10" "0000171746" "PDCD10" "0000420377" "PDCD10" "0000420378" "PDCD10" "0000420379" "PDCD10" "0000420380" "PDCD10" "0000420381" "PDCD10" "0000420382" "PDCD10" "0000420383" "PDCD10" "0000420384" "PDCD10" "0000420385" "PDCD10" "0000420386" "PDCD10" "0000420387" "PDCD10" "0000469379" "DMD" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 55 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000010379" "0" "50" "3" "167411590" "167411590" "dup" "0" "00037" "PDCD10_000003" "g.167411590dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.167693802dup" "" "VUS" "" "0000011922" "0" "50" "3" "167411281" "167411281" "subst" "0" "00037" "PDCD10_000002" "g.167411281T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.167693493T>C" "" "VUS" "" "0000011923" "0" "50" "3" "167411779" "167411779" "subst" "0" "00037" "PDCD10_000001" "g.167411779C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.167693991C>T" "" "VUS" "" "0000246178" "0" "30" "3" "167422695" "167422695" "subst" "2.13296E-5" "02330" "PDCD10_000013" "g.167422695A>T" "" "" "" "PDCD10(NM_007217.4):c.97-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.167704907A>T" "" "likely benign" "" "0000255546" "0" "90" "3" "167437869" "167437869" "subst" "0" "01943" "PDCD10_000016" "g.167437869A>C" "" "" "" "PDCD10(NM_007217.3):c.77T>G (p.M26R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.167720081A>C" "" "pathogenic" "" "0000256247" "0" "50" "3" "167422682" "167422682" "subst" "0" "01943" "PDCD10_000012" "g.167422682A>G" "" "" "" "PDCD10(NM_007217.3):c.98T>C (p.L33P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.167704894A>G" "" "VUS" "" "0000300682" "0" "70" "3" "167413379" "167413379" "subst" "0" "02326" "PDCD10_000005" "g.167413379C>G" "" "" "" "PDCD10(NM_007217.4):c.395+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.167695591C>G" "" "likely pathogenic" "" "0000305312" "0" "90" "3" "167422677" "167422677" "subst" "0" "01943" "PDCD10_000011" "g.167422677G>A" "" "" "" "PDCD10(NM_007217.3):c.103C>T (p.R35*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.167704889G>A" "" "pathogenic" "" "0000305313" "0" "10" "3" "167422676" "167422676" "subst" "4.49376E-5" "01943" "PDCD10_000010" "g.167422676C>T" "" "" "" "PDCD10(NM_007217.3):c.104G>A (p.R35Q, p.(Arg35Gln)), PDCD10(NM_007217.4):c.104G>A (p.R35Q), PDCD10(NM_145860.2):c.104G>A (p.R35Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.167704888C>T" "" "benign" "" "0000305314" "0" "90" "3" "167414905" "167414908" "del" "0" "01943" "PDCD10_000009" "g.167414905_167414908del" "" "" "" "PDCD10(NM_007217.3):c.160_163delGAAA (p.E54Ifs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.167697117_167697120del" "" "pathogenic" "" "0000305316" "0" "90" "3" "167413456" "167413457" "del" "0" "01943" "PDCD10_000008" "g.167413456_167413457del" "" "" "" "PDCD10(NM_007217.3):c.322_323delCG (p.R108Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.167695668_167695669del" "" "pathogenic" "" "0000305317" "0" "90" "3" "167413410" "167413411" "del" "0" "01943" "PDCD10_000007" "g.167413410_167413411del" "" "" "" "PDCD10(NM_007217.3):c.369_370delCA (p.D123Efs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.167695622_167695623del" "" "pathogenic" "" "0000353659" "0" "90" "3" "167413496" "167413496" "subst" "0" "02390" "PDCD10_000015" "g.167413496G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.167695708G>A" "" "pathogenic" "" "0000369780" "0" "70" "3" "167437849" "167438062" "del" "0" "02515" "PDCD10_000019" "g.(167422684_167437849)_(167438062_167452001)del" "" "" "" "c.(1-117_1-116)_(96+1_97-1)del" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000369781" "0" "70" "3" "167414796" "167422684" "del" "0" "02515" "PDCD10_000017" "g.(167413511_167414796)_(167422684_167437849)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000369782" "0" "70" "3" "167414796" "167414915" "del" "0" "02515" "PDCD10_000018" "g.(167413511_167414796)_(167414915_167422629)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "" "0000369784" "0" "90" "3" "167256020" "167440972" "del" "0" "02515" "PDCD10_000020" "g.(?_167256020)_(167440972_?)del" "" "" "" "g.167,256,020-167,440,972" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000372288" "0" "70" "3" "167413496" "167413496" "subst" "0" "02515" "PDCD10_000015" "g.167413496G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.167695708G>A" "" "likely pathogenic" "" "0000392100" "0" "90" "3" "167256021" "167440972" "del" "0" "02515" "PDCD10_000021" "g.(167256020_167256021)_(167440972_167440973)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000392101" "0" "90" "3" "167256021" "167440972" "del" "0" "02515" "PDCD10_000021" "g.(167256020_167256021)_(167440972_167440973)del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000392102" "0" "90" "3" "167256021" "167440972" "del" "0" "02515" "PDCD10_000021" "g.(167256020_167256021)_(167440972_167440973)del" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic" "" "0000392103" "0" "90" "3" "167402149" "167402149" "subst" "0" "02515" "PDCD10_000022" "g.167402149G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.167684361G>A" "" "pathogenic" "" "0000518434" "0" "90" "3" "167402160" "167402160" "dup" "0" "01943" "PDCD10_000023" "g.167402160dup" "" "" "" "PDCD10(NM_007217.3):c.575dupT (p.S193Kfs*36)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.167684372dup" "" "pathogenic" "" "0000518435" "0" "30" "3" "167402161" "167402161" "subst" "0.000386364" "02330" "PDCD10_000024" "g.167402161C>T" "" "" "" "PDCD10(NM_007217.3):c.574G>A (p.(Val192Ile)), PDCD10(NM_007217.4):c.574G>A (p.V192I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.167684373C>T" "" "likely benign" "" "0000518436" "0" "90" "3" "167405098" "167405099" "ins" "0" "01943" "PDCD10_000025" "g.167405098_167405099insT" "" "" "" "PDCD10(NM_007217.3):c.480_481insA (p.E161Rfs*16)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.167687310_167687311insT" "" "pathogenic" "" "0000518437" "0" "90" "3" "167413401" "167413402" "ins" "0" "01943" "PDCD10_000026" "g.167413401_167413402insT" "" "" "" "PDCD10(NM_007217.3):c.377_378insA (p.F127Vfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.167695613_167695614insT" "" "pathogenic" "" "0000518438" "0" "30" "3" "167414851" "167414851" "subst" "0.00150389" "01804" "PDCD10_000027" "g.167414851C>G" "" "" "" "PDCD10(NM_007217.3):c.214G>C (p.(Val72Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.167697063C>G" "" "likely benign" "" "0000518439" "0" "50" "3" "167422682" "167422682" "subst" "0" "01943" "PDCD10_000028" "g.167422682A>C" "" "" "" "PDCD10(NM_007217.3):c.98T>G (p.L33R), PDCD10(NM_007217.4):c.98T>G (p.L33R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.167704894A>C" "" "VUS" "" "0000518440" "0" "70" "3" "167422682" "167422682" "subst" "0" "02326" "PDCD10_000028" "g.167422682A>C" "" "" "" "PDCD10(NM_007217.3):c.98T>G (p.L33R), PDCD10(NM_007217.4):c.98T>G (p.L33R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.167704894A>C" "" "likely pathogenic" "" "0000518441" "0" "90" "3" "167437916" "167437917" "ins" "0" "01943" "PDCD10_000029" "g.167437916_167437917insAA" "" "" "" "PDCD10(NM_007217.3):c.30_31insTT (p.E11Lfs*24)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.167720128_167720129insAA" "" "pathogenic" "" "0000608401" "0" "30" "3" "167422676" "167422676" "subst" "4.49376E-5" "02330" "PDCD10_000010" "g.167422676C>T" "" "" "" "PDCD10(NM_007217.3):c.104G>A (p.R35Q, p.(Arg35Gln)), PDCD10(NM_007217.4):c.104G>A (p.R35Q), PDCD10(NM_145860.2):c.104G>A (p.R35Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.167704888C>T" "" "likely benign" "" "0000858863" "0" "30" "3" "167413468" "167413468" "subst" "4.87337E-5" "01943" "PDCD10_000030" "g.167413468T>C" "" "" "" "PDCD10(NM_007217.3):c.311A>G (p.N104S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858864" "0" "30" "3" "167422676" "167422676" "subst" "4.49376E-5" "02325" "PDCD10_000010" "g.167422676C>T" "" "" "" "PDCD10(NM_007217.3):c.104G>A (p.R35Q, p.(Arg35Gln)), PDCD10(NM_007217.4):c.104G>A (p.R35Q), PDCD10(NM_145860.2):c.104G>A (p.R35Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000869809" "0" "90" "3" "167405459" "167405459" "subst" "0" "04329" "PDCD10_000031" "g.167405459C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.167687671C>A" "" "pathogenic" "" "0000879980" "0" "50" "3" "167405109" "167405109" "subst" "0" "00006" "PDCD10_000032" "g.167405109A>G" "" "{PMID:He 2022:35121647}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.167687321A>G" "" "VUS" "ACMG" "0000880713" "0" "90" "3" "167452001" "167452614" "del" "0" "00006" "PDCD10_000036" "g.(167438062_167452001)_(167452614_?)del" "" "{PMID:Nardella 2018:30161288}" "" "g.167734826_167734214del" "" "Germline" "" "" "0" "" "" "g.(167720274_167734213)_(167734826_?)del" "" "pathogenic" "" "0000880714" "0" "90" "3" "167437849" "167438062" "del" "0" "00006" "PDCD10_000035" "g.(167422684_167437849)_(167438062_167452001)del" "" "{PMID:Nardella 2018:30161288}" "" "(-117_-116)_(96+1_97-1)" "" "Germline" "" "" "0" "" "" "g.(167704896_167720061)_(167720274_167734213)del" "" "pathogenic" "" "0000880715" "0" "90" "3" "167422677" "167422677" "subst" "0" "00006" "PDCD10_000011" "g.167422677G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.167704889G>A" "" "pathogenic" "" "0000880716" "0" "90" "3" "167414796" "167422684" "del" "0" "00006" "PDCD10_000017" "g.(167413511_167414796)_(167422684_167437849)del" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.(167695723_167697008)_(167704896_167720061)del" "" "pathogenic" "" "0000880717" "0" "90" "3" "167414796" "167414915" "del" "0" "00006" "PDCD10_000018" "g.(167413511_167414796)_(167414915_167422629)del" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.(167695723_167697008)_(167697127_167704841)del" "" "pathogenic" "" "0000880718" "0" "90" "3" "167402149" "167402149" "subst" "0" "00006" "PDCD10_000022" "g.167402149G>A" "" "{PMID:Nardella 2018:30161288}" "" "" "" "Germline" "" "" "0" "" "" "g.167684361G>A" "" "pathogenic" "" "0000880719" "0" "90" "3" "167256021" "167440972" "del" "0" "00006" "PDCD10_000033" "g.(?_167256021)_(167440972_?)del" "" "{PMID:Nardella 2018:30161288}" "" "del ex4-10, g.(167256020_167256021)_(167440972_167440973)del" "" "Germline" "" "" "0" "" "" "g.(?_167538233)_(167723184_?)del" "" "pathogenic" "" "0000880720" "0" "90" "3" "167256021" "167440972" "del" "0" "00006" "PDCD10_000033" "g.(?_167256021)_(167440972_?)del" "" "{PMID:Nardella 2018:30161288}" "" "del ex4-10, g.(167256020_167256021)_(167440972_167440973)del" "" "Germline" "" "" "0" "" "" "g.(?_167538233)_(167723184_?)del" "" "pathogenic" "" "0000880721" "0" "90" "3" "167256021" "167440972" "del" "0" "00006" "PDCD10_000033" "g.(?_167256021)_(167440972_?)del" "" "{PMID:Nardella 2018:30161288}" "" "del ex4-10, g.(167256020_167256021)_(167440972_167440973)del" "" "Germline" "" "" "0" "" "" "g.(?_167538233)_(167723184_?)del" "" "pathogenic" "" "0000880722" "0" "90" "3" "167256021" "167440972" "del" "0" "00006" "PDCD10_000033" "g.(?_167256021)_(167440972_?)del" "" "{PMID:Nardella 2018:30161288}" "" "del ex4-10, g.(167256020_167256021)_(167440972_167440973)del" "" "Germline" "" "" "0" "" "" "g.(?_167538233)_(167723184_?)del" "" "pathogenic" "" "0000880723" "0" "90" "3" "167401694" "167452594" "del" "0" "00006" "PDCD10_000034" "g.(?_167401694)_(167452594_?)del" "" "{PMID:Nardella 2018:30161288}" "" "(?_-1)_(*1_?)del" "" "Germline" "" "" "0" "" "" "g.(?_167683906)_(167734806_?)del" "" "pathogenic" "" "0000928735" "0" "30" "3" "167422642" "167422642" "subst" "1.2212E-5" "01804" "PDCD10_000037" "g.167422642G>A" "" "" "" "PDCD10(NM_007217.3):c.138C>T (p.(Ala46=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948066" "0" "30" "3" "167422676" "167422676" "subst" "4.49376E-5" "01804" "PDCD10_000010" "g.167422676C>T" "" "" "" "PDCD10(NM_007217.3):c.104G>A (p.R35Q, p.(Arg35Gln)), PDCD10(NM_007217.4):c.104G>A (p.R35Q), PDCD10(NM_145860.2):c.104G>A (p.R35Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948067" "0" "30" "3" "167437928" "167437928" "subst" "3.25481E-5" "01804" "PDCD10_000038" "g.167437928T>C" "" "" "" "PDCD10(NM_007217.3):c.18A>G (p.(Glu6=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000962551" "0" "30" "3" "167405394" "167405394" "subst" "0.000162816" "01804" "PDCD10_000039" "g.167405394T>C" "" "" "" "PDCD10(NM_007217.3):c.474+9A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975651" "0" "90" "3" "167414819" "167414820" "del" "0" "02330" "PDCD10_000040" "g.167414819_167414820del" "" "" "" "PDCD10(NM_007217.4):c.245_246delGT (p.R82Hfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024738" "0" "30" "3" "167402161" "167402161" "subst" "0.000386364" "01804" "PDCD10_000024" "g.167402161C>T" "" "" "" "PDCD10(NM_007217.3):c.574G>A (p.(Val192Ile)), PDCD10(NM_007217.4):c.574G>A (p.V192I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001029770" "0" "50" "3" "167402154" "167402154" "subst" "0" "03779" "PDCD10_000041" "g.167402154G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001049665" "0" "90" "3" "167405459" "167405459" "subst" "0" "00006" "PDCD10_000031" "g.167405459C>A" "" "{PMID:Guo 2022:35858850}" "" "418G>T no refseq" "" "De novo" "" "" "0" "" "" "g.167687671C>A" "" "pathogenic (dominant)" "" "0001051562" "0" "30" "3" "167414792" "167414792" "subst" "0" "01804" "PDCD10_000042" "g.167414792G>A" "" "" "" "PDCD10(NM_007217.4):c.268+5C>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 PDCD10 ## Count = 55 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000010379" "00001131" "50" "395" "1807" "395" "1807" "c.395+1807dup" "r.(=)" "p.(=)" "" "0000011922" "00001131" "50" "395" "2103" "395" "2103" "c.395+2103A>G" "r.(=)" "p.(=)" "" "0000011923" "00001131" "50" "395" "1605" "395" "1605" "c.395+1605G>A" "r.(=)" "p.(=)" "" "0000246178" "00001131" "30" "97" "-12" "97" "-12" "c.97-12T>A" "r.(=)" "p.(=)" "" "0000255546" "00001131" "90" "77" "0" "77" "0" "c.77T>G" "r.(?)" "p.(Met26Arg)" "" "0000256247" "00001131" "50" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Leu33Pro)" "" "0000300682" "00001131" "70" "395" "5" "395" "5" "c.395+5G>C" "r.spl?" "p.?" "" "0000305312" "00001131" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35Ter)" "" "0000305313" "00001131" "10" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" "0000305314" "00001131" "90" "160" "0" "163" "0" "c.160_163del" "r.(?)" "p.(Glu54IlefsTer10)" "" "0000305316" "00001131" "90" "322" "0" "323" "0" "c.322_323del" "r.(?)" "p.(Arg108SerfsTer3)" "" "0000305317" "00001131" "90" "369" "0" "370" "0" "c.369_370del" "r.(?)" "p.(Asp123GlufsTer13)" "" "0000353659" "00001131" "90" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95*)" "6" "0000369780" "00001131" "70" "-116" "-1" "96" "1" "c.(-117+1_-116-1)_(96+1_97-1)del" "r.?" "p.0?" "2i_3i" "0000369781" "00001131" "70" "97" "-1" "268" "1" "c.(96+1_97-1)_(268+1_269-1)del" "r.?" "p.?" "3i_5i" "0000369782" "00001131" "70" "151" "-1" "268" "1" "c.(150+1_151-1)_(268+1_269-1)del" "r.?" "p.?" "4i_5i" "0000369784" "00001131" "70" "-1" "0" "640" "0" "c.(?_-1)_(*1_?)del" "r.0?" "p.0?" "_1_9_" "0000372288" "00001131" "70" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95*)" "7" "0000392100" "00001131" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000392101" "00001131" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000392102" "00001131" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_10_" "0000392103" "00001131" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "7" "0000518434" "00001131" "90" "575" "0" "575" "0" "c.575dup" "r.(?)" "p.(Ser193LysfsTer36)" "" "0000518435" "00001131" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Val192Ile)" "" "0000518436" "00001131" "90" "480" "0" "481" "0" "c.480_481insA" "r.(?)" "p.(Glu161ArgfsTer16)" "" "0000518437" "00001131" "90" "377" "0" "378" "0" "c.377_378insA" "r.(?)" "p.(Phe127ValfsTer10)" "" "0000518438" "00001131" "30" "214" "0" "214" "0" "c.214G>C" "r.(?)" "p.(Val72Leu)" "" "0000518439" "00001131" "50" "98" "0" "98" "0" "c.98T>G" "r.(?)" "p.(Leu33Arg)" "" "0000518440" "00001131" "70" "98" "0" "98" "0" "c.98T>G" "r.(?)" "p.(Leu33Arg)" "" "0000518441" "00001131" "90" "30" "0" "31" "0" "c.30_31insTT" "r.(?)" "p.(Glu11LeufsTer24)" "" "0000608401" "00001131" "30" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" "0000858863" "00001131" "30" "311" "0" "311" "0" "c.311A>G" "r.(?)" "p.(Asn104Ser)" "" "0000858864" "00001131" "30" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" "0000869809" "00001131" "90" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Glu140*)" "6" "0000879980" "00001131" "50" "475" "-5" "475" "-5" "c.475-5T>C" "r.474_475=" "p.=" "" "0000880713" "00001131" "90" "" "0" "" "0" "c.-398_(-117+1_-116-1){0}" "r.0?" "p.0?" "_1_2i" "0000880714" "00001131" "90" "" "0" "" "0" "c.(-117+1_-116-1)_(96+1_97-1)" "r.0?" "p.0?" "2i_3i" "0000880715" "00001131" "90" "103" "0" "103" "0" "c.103C>T" "r.(?)" "p.(Arg35Ter)" "4" "0000880716" "00001131" "90" "97" "-1" "268" "1" "c.(96+1_97-1)_(268+1_269-1)del" "r.?" "p.(Leu33Serfs*3)" "3i_5i" "0000880717" "00001131" "90" "151" "-1" "268" "1" "c.(150+1_151-1)_(268+1_269-1)del" "r.?" "p.(Ala51Serfs*3)" "4i_5i" "0000880718" "00001131" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Ter)" "7" "0000880719" "00001131" "90" "" "0" "" "0" "c.(?_-116-2911)_*402{0}" "r.0?" "p.0?" "2i_9_" "0000880720" "00001131" "90" "" "0" "" "0" "c.(?_-116-2911)_*402{0}" "r.0?" "p.0?" "2i_9_" "0000880721" "00001131" "90" "" "0" "" "0" "c.(?_-116-2911)_*402{0}" "r.0?" "p.0?" "2i_9_" "0000880722" "00001131" "90" "" "0" "" "0" "c.(?_-116-2911)_*402{0}" "r.0?" "p.0?" "2i_9_" "0000880723" "00001131" "90" "" "0" "" "0" "c.-398_*402{0}" "r.0?" "p.0?" "_1_9_" "0000928735" "00001131" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(=)" "" "0000948066" "00001131" "30" "104" "0" "104" "0" "c.104G>A" "r.(?)" "p.(Arg35Gln)" "" "0000948067" "00001131" "30" "18" "0" "18" "0" "c.18A>G" "r.(?)" "p.(=)" "" "0000962551" "00001131" "30" "474" "9" "474" "9" "c.474+9A>G" "r.(=)" "p.(=)" "" "0000975651" "00001131" "90" "245" "0" "246" "0" "c.245_246del" "r.(?)" "p.(Arg82Hisfs*4)" "" "0001024738" "00001131" "30" "574" "0" "574" "0" "c.574G>A" "r.(?)" "p.(Val192Ile)" "" "0001029770" "00001131" "50" "581" "0" "581" "0" "c.581C>T" "r.(?)" "p.(Ala194Val)" "" "0001049665" "00001131" "90" "418" "0" "418" "0" "c.418G>T" "r.(?)" "p.(Glu140*)" "" "0001051562" "00001131" "30" "268" "5" "268" "5" "c.268+5C>T" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 27 "{{screeningid}}" "{{variantid}}" "0000000210" "0000010379" "0000000210" "0000011922" "0000000210" "0000011923" "0000154179" "0000353659" "0000165953" "0000369780" "0000165954" "0000369781" "0000165955" "0000369782" "0000165957" "0000369784" "0000166579" "0000372288" "0000171743" "0000392100" "0000171744" "0000392101" "0000171745" "0000392102" "0000171746" "0000392103" "0000412464" "0000869809" "0000419813" "0000879980" "0000420377" "0000880713" "0000420378" "0000880714" "0000420379" "0000880715" "0000420380" "0000880716" "0000420381" "0000880717" "0000420382" "0000880718" "0000420383" "0000880719" "0000420384" "0000880720" "0000420385" "0000880721" "0000420386" "0000880722" "0000420387" "0000880723" "0000469379" "0001049665"