### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTCH2) # 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}}" "PTCH2" "patched 2" "1" "p34.1" "unknown" "NG_013369.1" "UD_132084389642" "" "https://www.LOVD.nl/PTCH2" "" "1" "9586" "8643" "603673" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PTCH2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-10-07 23:35:07" "00000" "2025-05-05 21:14:00" ## 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}}" "00017083" "PTCH2" "transcript variant 1" "002" "NM_003738.4" "" "NP_003729.3" "" "" "" "-12" "3761" "3612" "45308616" "45287938" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "01191" "BCNS" "basal cell nevus syndrome (BCNS, Gorlin-Goltz syndrome)" "AD" "109400" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01429" "MDB" "medulloblastoma (MDB)" "AD;AR;SMu" "155255" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-10-31 14:18:45" "02551" "BCC1" "carcinoma, basal cell, susceptibility to, type 1 (BCC-1)" "" "605462" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "05333" "RMSE" "rhabdomyosarcoma, embryonal (RMSE)" "" "" "" "" "" "00006" "2017-10-07 23:40:08" "" "" "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 = 3 "{{geneid}}" "{{diseaseid}}" "PTCH2" "01191" "PTCH2" "01429" "PTCH2" "02551" ## Individuals ## Do not remove or alter this header ## ## Count = 7 "{{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}}" "00104008" "" "" "" "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-167A" "00104022" "" "" "" "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-701A" "00104030" "" "" "" "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-731A" "00131885" "" "" "" "1" "" "02232" "" "" "M" "" "" "" "0" "" "" "" "" "00289851" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289852" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00386485" "" "" "" "1" "" "00006" "{PMID:Nair 2018:30293248}" "" "" "" "Lebanon" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00104008" "03381" "00104022" "03381" "00104030" "03381" "00131885" "05333" "00289851" "00198" "00289852" "00198" "00386485" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01191, 01429, 02551, 03381, 05333, 05611 ## Count = 5 "{{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}}" "0000081942" "03381" "00104008" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000081956" "03381" "00104022" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000081964" "03381" "00104030" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000104228" "05333" "00131885" "02232" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000280292" "05611" "00386485" "00006" "Unknown" "" "hydrocephalus; developmental delay; intellectual disability; abnormal gait; carse face, malformation of heart and great vessels; short stature; undescended testis; micropenis" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104479" "00104008" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104493" "00104022" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000104501" "00104030" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000132721" "00131885" "1" "02232" "02232" "2017-09-25 10:35:06" "" "" "SEQ;SEQ-NG" "DNA" "PBMC" "" "0000291019" "00289851" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291020" "00289852" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000387713" "00386485" "1" "00006" "00006" "2021-10-22 17:02:04" "" "" "SEQ-NG-IT" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 72 "{{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}}" "0000169327" "0" "70" "1" "45307621" "45307621" "subst" "0" "00587" "PTCH2_000002" "g.45307621A>G" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_003738.4(PTCH2):c.163T>C p.(Cys55Arg)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.44841949A>G" "" "likely pathogenic" "" "0000169369" "0" "70" "1" "45294200" "45294200" "subst" "8.15242E-5" "00587" "PTCH2_000001" "g.45294200G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_003738.4(PTCH2):c.1568C>T p.(Ala523Val)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.44828528G>A" "" "likely pathogenic" "" "0000169400" "0" "70" "1" "45294200" "45294200" "subst" "8.15242E-5" "00587" "PTCH2_000001" "g.45294200G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_003738.4(PTCH2):c.1568C>T p.(Ala523Val)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.44828528G>A" "" "likely pathogenic" "" "0000221908" "11" "50" "1" "45293709" "45293709" "subst" "0.00955972" "02232" "PTCH2_000003" "g.45293709G>A" "" "" "" "g.19908C>T" "" "Germline" "" "" "0" "" "" "g.44828037G>A" "" "VUS" "" "0000248487" "0" "10" "1" "45293518" "45293518" "subst" "0.380942" "02325" "PTCH2_000028" "g.45293518A>G" "" "" "" "PTCH2(NM_001166292.2):c.2055T>C (p.A685=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44827846A>G" "" "benign" "" "0000249314" "0" "30" "1" "45295098" "45295098" "subst" "2.03049E-5" "02325" "PTCH2_000020" "g.45295098A>T" "" "" "" "PTCH2(NM_001166292.2):c.1191T>A (p.R397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44829426A>T" "" "likely benign" "" "0000249315" "0" "30" "1" "45295676" "45295676" "subst" "0.00540079" "02325" "PTCH2_000023" "g.45295676A>G" "" "" "" "PTCH2(NM_001166292.1):c.840T>C (p.S280=, p.(Ser280=)), PTCH2(NM_001166292.2):c.840T>C (p.S280=), PTCH2(NM_003738.5):c.840T>C (p.S280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44830004A>G" "" "likely benign" "" "0000250558" "0" "50" "1" "45297468" "45297468" "subst" "4.24935E-6" "02329" "PTCH2_000024" "g.45297468A>C" "" "" "" "PTCH2(NM_003738.5):c.527T>G (p.M176R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44831796A>C" "" "VUS" "" "0000297477" "0" "30" "1" "45294916" "45294916" "subst" "0.000134916" "02325" "PTCH2_000019" "g.45294916G>A" "" "" "" "PTCH2(NM_001166292.2):c.1284C>T (p.A428=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44829244G>A" "" "likely benign" "" "0000297478" "0" "50" "1" "45294011" "45294011" "subst" "2.44099E-5" "02325" "PTCH2_000016" "g.45294011G>A" "" "" "" "PTCH2(NM_001166292.2):c.1666C>T (p.R556W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44828339G>A" "" "VUS" "" "0000297479" "0" "30" "1" "45293985" "45293985" "subst" "0" "02325" "PTCH2_000015" "g.45293985C>T" "" "" "" "PTCH2(NM_001166292.2):c.1692G>A (p.V564=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44828313C>T" "" "likely benign" "" "0000297480" "0" "50" "1" "45293089" "45293089" "subst" "8.13709E-5" "02325" "PTCH2_000009" "g.45293089G>A" "" "" "" "PTCH2(NM_001166292.2):c.2356C>T (p.R786C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44827417G>A" "" "VUS" "" "0000297481" "0" "10" "1" "45292866" "45292866" "subst" "0.162217" "02325" "PTCH2_000007" "g.45292866G>A" "" "" "" "PTCH2(NM_001166292.2):c.2487C>T (p.D829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44827194G>A" "" "benign" "" "0000297482" "0" "10" "1" "45307506" "45307506" "subst" "0.374116" "02325" "PTCH2_000026" "g.45307506G>A" "" "" "" "PTCH2(NM_001166292.2):c.265+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44841834G>A" "" "benign" "" "0000297483" "0" "30" "1" "45288983" "45288983" "subst" "0.000235585" "02325" "PTCH2_000005" "g.45288983G>A" "" "" "" "PTCH2(NM_001166292.2):c.3189C>T (p.T1063=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44823311G>A" "" "likely benign" "" "0000297484" "0" "30" "1" "45288154" "45288154" "subst" "0" "02325" "PTCH2_000004" "g.45288154G>A" "" "" "" "PTCH2(NM_003738.5):c.3545C>T (p.P1182L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44822482G>A" "" "likely benign" "" "0000297485" "0" "30" "1" "45297808" "45297808" "subst" "8.93401E-5" "02325" "PTCH2_000025" "g.45297808G>T" "" "" "" "PTCH2(NM_001166292.2):c.455+16C>A, PTCH2(NM_003738.5):c.455+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44832136G>T" "" "likely benign" "" "0000299192" "0" "10" "1" "45295296" "45295296" "subst" "0.00688237" "02329" "PTCH2_000022" "g.45295296C>T" "" "" "" "PTCH2(NM_001166292.1):c.1073G>A (p.(Arg358His)), PTCH2(NM_003738.5):c.1073G>A (p.R358H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44829624C>T" "" "benign" "" "0000299193" "0" "10" "1" "45295289" "45295289" "subst" "0.00616697" "02329" "PTCH2_000021" "g.45295289C>A" "" "" "" "PTCH2(NM_001166292.1):c.1080G>T (p.V360=, p.(Val360=)), PTCH2(NM_003738.5):c.1080G>T (p.V360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44829617C>A" "" "benign" "" "0000299194" "0" "30" "1" "45294084" "45294084" "subst" "0.000374886" "02329" "PTCH2_000017" "g.45294084C>T" "" "" "" "PTCH2(NM_001166292.1):c.1593G>A (p.A531=), PTCH2(NM_003738.5):c.1593G>A (p.A531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44828412C>T" "" "likely benign" "" "0000299195" "0" "10" "1" "45293709" "45293709" "subst" "0.00955972" "02329" "PTCH2_000003" "g.45293709G>A" "" "" "" "PTCH2(NM_001166292.1):c.1864C>T (p.(His622Tyr)), PTCH2(NM_003738.5):c.1864C>T (p.H622Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44828037G>A" "" "benign" "" "0000299196" "0" "10" "1" "45293318" "45293318" "subst" "0.0132883" "02329" "PTCH2_000013" "g.45293318G>A" "" "" "" "PTCH2(NM_001166292.1):c.2127C>T (p.(Asp709=)), PTCH2(NM_003738.5):c.2127C>T (p.D709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44827646G>A" "" "benign" "" "0000299197" "0" "30" "1" "45293261" "45293261" "subst" "0.000272449" "02329" "PTCH2_000012" "g.45293261G>A" "" "" "" "PTCH2(NM_003738.5):c.2184C>T (p.S728=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44827589G>A" "" "likely benign" "" "0000299198" "0" "10" "1" "45293090" "45293090" "subst" "0.00340111" "02329" "PTCH2_000010" "g.45293090G>A" "" "" "" "PTCH2(NM_003738.5):c.2355C>T (p.Y785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44827418G>A" "" "benign" "" "0000299199" "0" "10" "1" "45292926" "45292926" "subst" "0.0119378" "02329" "PTCH2_000008" "g.45292926C>G" "" "" "" "PTCH2(NM_001166292.1):c.2427G>C (p.(Ser809=)), PTCH2(NM_003738.5):c.2427G>C (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44827254C>G" "" "benign" "" "0000299200" "0" "10" "1" "45307694" "45307694" "subst" "0.0101552" "02329" "PTCH2_000027" "g.45307694C>T" "" "" "" "PTCH2(NM_003738.5):c.90G>A (p.L30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44842022C>T" "" "benign" "" "0000306579" "0" "30" "1" "45295289" "45295289" "subst" "0.00616697" "01943" "PTCH2_000021" "g.45295289C>A" "" "" "" "PTCH2(NM_001166292.1):c.1080G>T (p.V360=, p.(Val360=)), PTCH2(NM_003738.5):c.1080G>T (p.V360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44829617C>A" "" "likely benign" "" "0000306580" "0" "30" "1" "45294738" "45294738" "subst" "5.02445E-5" "01943" "PTCH2_000018" "g.45294738G>A" "" "" "" "PTCH2(NM_001166292.1):c.1380C>T (p.P460=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44829066G>A" "" "likely benign" "" "0000306581" "0" "30" "1" "45293709" "45293709" "subst" "0.00224743" "01943" "PTCH2_000014" "g.45293709G>T" "" "" "" "PTCH2(NM_001166292.1):c.1864C>A (p.(His622Asn)), PTCH2(NM_003738.5):c.1864C>A (p.H622N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44828037G>T" "" "likely benign" "" "0000320787" "0" "30" "1" "45293709" "45293709" "subst" "0.00224743" "01804" "PTCH2_000014" "g.45293709G>T" "" "" "" "PTCH2(NM_001166292.1):c.1864C>A (p.(His622Asn)), PTCH2(NM_003738.5):c.1864C>A (p.H622N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44828037G>T" "" "likely benign" "" "0000320788" "0" "10" "1" "45295296" "45295296" "subst" "0.00688237" "01804" "PTCH2_000022" "g.45295296C>T" "" "" "" "PTCH2(NM_001166292.1):c.1073G>A (p.(Arg358His)), PTCH2(NM_003738.5):c.1073G>A (p.R358H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44829624C>T" "" "benign" "" "0000507615" "0" "50" "1" "45288962" "45288962" "subst" "8.52868E-5" "01943" "PTCH2_000030" "g.45288962C>G" "" "" "" "PTCH2(NM_001166292.1):c.3210G>C (p.L1070F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44823290C>G" "" "VUS" "" "0000507616" "0" "10" "1" "45292173" "45292173" "subst" "0.0466488" "01804" "PTCH2_000031" "g.45292173G>A" "" "" "" "PTCH2(NM_001166292.1):c.2963C>T (p.(Thr988Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44826501G>A" "" "benign" "" "0000507617" "0" "30" "1" "45293560" "45293560" "subst" "0.00104022" "01943" "PTCH2_000032" "g.45293560G>A" "" "" "" "PTCH2(NM_001166292.1):c.2013C>T (p.F671=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44827888G>A" "" "likely benign" "" "0000507618" "0" "30" "1" "45293709" "45293709" "subst" "0.00955972" "01804" "PTCH2_000003" "g.45293709G>A" "" "" "" "PTCH2(NM_001166292.1):c.1864C>T (p.(His622Tyr)), PTCH2(NM_003738.5):c.1864C>T (p.H622Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44828037G>A" "" "likely benign" "" "0000507620" "0" "30" "1" "45294081" "45294081" "subst" "0.000664178" "01943" "PTCH2_000034" "g.45294081G>A" "" "" "" "PTCH2(NM_001166292.1):c.1596C>T (p.A532=), PTCH2(NM_003738.5):c.1596C>T (p.(Ala532=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44828409G>A" "" "likely benign" "" "0000507621" "0" "30" "1" "45294084" "45294084" "subst" "0.000374886" "01943" "PTCH2_000017" "g.45294084C>T" "" "" "" "PTCH2(NM_001166292.1):c.1593G>A (p.A531=), PTCH2(NM_003738.5):c.1593G>A (p.A531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44828412C>T" "" "likely benign" "" "0000507623" "0" "30" "1" "45294693" "45294693" "subst" "0.00149249" "01943" "PTCH2_000035" "g.45294693C>T" "" "" "" "PTCH2(NM_001166292.1):c.1425G>A (p.A475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44829021C>T" "" "likely benign" "" "0000507624" "0" "50" "1" "45294927" "45294927" "subst" "1.22678E-5" "01804" "PTCH2_000036" "g.45294927C>T" "" "" "" "PTCH2(NM_001166292.1):c.1273G>A (p.(Val425Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44829255C>T" "" "VUS" "" "0000507626" "0" "50" "1" "45295283" "45295283" "subst" "0.000666358" "02327" "PTCH2_000038" "g.45295283G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44829611G>A" "" "VUS" "" "0000507627" "0" "30" "1" "45295676" "45295676" "subst" "0.00540079" "01943" "PTCH2_000023" "g.45295676A>G" "" "" "" "PTCH2(NM_001166292.1):c.840T>C (p.S280=, p.(Ser280=)), PTCH2(NM_001166292.2):c.840T>C (p.S280=), PTCH2(NM_003738.5):c.840T>C (p.S280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44830004A>G" "" "likely benign" "" "0000507628" "0" "50" "1" "45296569" "45296569" "subst" "0" "01943" "PTCH2_000039" "g.45296569G>C" "" "" "" "PTCH2(NM_001166292.1):c.764C>G (p.P255R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44830897G>C" "" "VUS" "" "0000507629" "0" "50" "1" "45296644" "45296644" "subst" "0" "02325" "PTCH2_000040" "g.45296644G>A" "" "" "" "PTCH2(NM_001166292.2):c.689C>T (p.S230F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44830972G>A" "" "VUS" "" "0000507630" "0" "10" "1" "45308561" "45308561" "subst" "0.00176953" "01943" "PTCH2_000041" "g.45308561G>A" "" "" "" "PTCH2(NM_001166292.1):c.44C>T (p.T15I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44842889G>A" "" "benign" "" "0000605795" "0" "50" "1" "45294977" "45294977" "subst" "4.89756E-5" "01804" "PTCH2_000044" "g.45294977T>C" "" "" "" "PTCH2(NM_001166292.1):c.1223A>G (p.(Tyr408Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44829305T>C" "" "VUS" "" "0000605796" "0" "30" "1" "45297925" "45297925" "subst" "0" "01943" "PTCH2_000046" "g.45297925G>T" "" "" "" "PTCH2(NM_001166292.1):c.354C>A (p.T118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44832253G>T" "" "likely benign" "" "0000620646" "0" "50" "1" "45291981" "45291981" "subst" "0.000223381" "01943" "PTCH2_000042" "g.45291981C>T" "" "" "" "PTCH2(NM_003738.5):c.3055G>A (p.V1019M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44826309C>T" "" "VUS" "" "0000620647" "0" "30" "1" "45294824" "45294824" "subst" "5.29566E-5" "02325" "PTCH2_000043" "g.45294824C>T" "" "" "" "PTCH2(NM_001166292.2):c.1371+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44829152C>T" "" "likely benign" "" "0000620648" "0" "50" "1" "45297824" "45297824" "subst" "0" "01943" "PTCH2_000045" "g.45297824T>A" "" "" "" "PTCH2(NM_003738.5):c.455A>T (p.K152M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44832152T>A" "" "VUS" "" "0000647708" "1" "10" "1" "45295296" "45295296" "subst" "0.00688237" "03575" "PTCH2_000022" "g.45295296C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 heterozygous, no homozygous; {DB:CLININrs139624405}" "Germline" "" "rs139624405" "0" "" "" "g.44829624C>T" "" "benign" "" "0000647709" "1" "50" "1" "45296630" "45296630" "subst" "3.2599E-5" "03575" "PTCH2_000047" "g.45296630G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs200366479}" "Germline" "" "rs200366479" "0" "" "" "g.44830958G>A" "" "VUS" "" "0000675871" "0" "10" "1" "45293709" "45293709" "subst" "0.00224743" "02329" "PTCH2_000014" "g.45293709G>T" "" "" "" "PTCH2(NM_001166292.1):c.1864C>A (p.(His622Asn)), PTCH2(NM_003738.5):c.1864C>A (p.H622N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000717521" "0" "50" "1" "45293088" "45293088" "subst" "4.06868E-6" "02325" "PTCH2_000048" "g.45293088C>G" "" "" "" "PTCH2(NM_003738.5):c.2357G>C (p.R786P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717522" "0" "50" "1" "45295119" "45295120" "del" "0" "02329" "PTCH2_000037" "g.45295119_45295120del" "" "" "" "PTCH2(NM_001166292.1):c.1172_1173delCT (p.S391*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717523" "0" "50" "1" "45297465" "45297465" "subst" "0" "02325" "PTCH2_000049" "g.45297465A>G" "" "" "" "PTCH2(NM_003738.5):c.530T>C (p.I177T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799386" "0" "50" "1" "45288809" "45288809" "subst" "0" "02325" "PTCH2_000050" "g.45288809G>A" "" "" "" "PTCH2(NM_003738.5):c.3289C>T (p.L1097F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799387" "0" "30" "1" "45292590" "45292590" "subst" "0.000447136" "01943" "PTCH2_000051" "g.45292590C>T" "" "" "" "PTCH2(NM_003738.5):c.2679G>A (p.T893=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815844" "0" "70" "1" "45297467" "45297467" "del" "0" "00006" "PTCH2_000052" "g.45297467del" "" "{PMID:Nair 2018:30293248}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44831795del" "" "likely pathogenic" "" "0000857507" "0" "10" "1" "45292926" "45292926" "subst" "0.0119378" "01804" "PTCH2_000008" "g.45292926C>G" "" "" "" "PTCH2(NM_001166292.1):c.2427G>C (p.(Ser809=)), PTCH2(NM_003738.5):c.2427G>C (p.S809=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857508" "0" "10" "1" "45293318" "45293318" "subst" "0.0132883" "01804" "PTCH2_000013" "g.45293318G>A" "" "" "" "PTCH2(NM_001166292.1):c.2127C>T (p.(Asp709=)), PTCH2(NM_003738.5):c.2127C>T (p.D709=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857509" "0" "30" "1" "45295289" "45295289" "subst" "0.00616697" "01804" "PTCH2_000021" "g.45295289C>A" "" "" "" "PTCH2(NM_001166292.1):c.1080G>T (p.V360=, p.(Val360=)), PTCH2(NM_003738.5):c.1080G>T (p.V360=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857510" "0" "10" "1" "45295676" "45295676" "subst" "0.00540079" "02329" "PTCH2_000023" "g.45295676A>G" "" "" "" "PTCH2(NM_001166292.1):c.840T>C (p.S280=, p.(Ser280=)), PTCH2(NM_001166292.2):c.840T>C (p.S280=), PTCH2(NM_003738.5):c.840T>C (p.S280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000883466" "0" "50" "1" "45291981" "45291981" "subst" "0.000223381" "02325" "PTCH2_000042" "g.45291981C>T" "" "" "" "PTCH2(NM_003738.5):c.3055G>A (p.V1019M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883467" "0" "50" "1" "45294953" "45294953" "subst" "0" "02325" "PTCH2_000053" "g.45294953C>T" "" "" "" "PTCH2(NM_003738.5):c.1247G>A (p.W416*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883468" "0" "50" "1" "45295330" "45295330" "subst" "2.84324E-5" "02325" "PTCH2_000054" "g.45295330G>A" "" "" "" "PTCH2(NM_003738.5):c.1039C>T (p.(Gln347*), p.Q347*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883469" "0" "10" "1" "45295676" "45295676" "subst" "0.00540079" "01804" "PTCH2_000023" "g.45295676A>G" "" "" "" "PTCH2(NM_001166292.1):c.840T>C (p.S280=, p.(Ser280=)), PTCH2(NM_001166292.2):c.840T>C (p.S280=), PTCH2(NM_003738.5):c.840T>C (p.S280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991317" "0" "50" "1" "45292964" "45292964" "subst" "1.62688E-5" "01804" "PTCH2_000055" "g.45292964C>T" "" "" "" "PTCH2(NM_003738.4):c.2389G>A (p.(Asp797Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000991318" "0" "30" "1" "45293853" "45293853" "subst" "2.04005E-5" "01804" "PTCH2_000056" "g.45293853C>A" "" "" "" "PTCH2(NM_003738.4):c.1720G>T (p.(Ala574Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991319" "0" "30" "1" "45295690" "45295690" "subst" "0" "01804" "PTCH2_000057" "g.45295690C>T" "" "" "" "PTCH2(NM_003738.4):c.826G>A (p.(Ala276Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024179" "0" "30" "1" "45297808" "45297808" "subst" "8.93401E-5" "02329" "PTCH2_000025" "g.45297808G>T" "" "" "" "PTCH2(NM_001166292.2):c.455+16C>A, PTCH2(NM_003738.5):c.455+16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032087" "0" "30" "1" "45294081" "45294081" "subst" "0.000664178" "01804" "PTCH2_000034" "g.45294081G>A" "" "" "" "PTCH2(NM_001166292.1):c.1596C>T (p.A532=), PTCH2(NM_003738.5):c.1596C>T (p.(Ala532=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032088" "0" "50" "1" "45295330" "45295330" "subst" "2.84324E-5" "01804" "PTCH2_000054" "g.45295330G>A" "" "" "" "PTCH2(NM_003738.5):c.1039C>T (p.(Gln347*), p.Q347*)" "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 PTCH2 ## Count = 72 "{{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}}" "0000169327" "00017083" "00" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Cys55Arg)" "" "0000169369" "00017083" "00" "1568" "0" "1568" "0" "c.1568C>T" "r.(?)" "p.(Ala523Val)" "" "0000169400" "00017083" "00" "1568" "0" "1568" "0" "c.1568C>T" "r.(?)" "p.(Ala523Val)" "" "0000221908" "00017083" "50" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(His622Tyr)" "14" "0000248487" "00017083" "10" "2055" "0" "2055" "0" "c.2055T>C" "r.(?)" "p.(Ala685=)" "" "0000249314" "00017083" "30" "1191" "0" "1191" "0" "c.1191T>A" "r.(?)" "p.(Arg397=)" "" "0000249315" "00017083" "30" "840" "0" "840" "0" "c.840T>C" "r.(?)" "p.(Ser280=)" "" "0000250558" "00017083" "50" "527" "0" "527" "0" "c.527T>G" "r.(?)" "p.(Met176Arg)" "" "0000297477" "00017083" "30" "1284" "0" "1284" "0" "c.1284C>T" "r.(?)" "p.(Ala428=)" "" "0000297478" "00017083" "50" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Arg556Trp)" "" "0000297479" "00017083" "30" "1692" "0" "1692" "0" "c.1692G>A" "r.(?)" "p.(Val564=)" "" "0000297480" "00017083" "50" "2356" "0" "2356" "0" "c.2356C>T" "r.(?)" "p.(Arg786Cys)" "" "0000297481" "00017083" "10" "2487" "0" "2487" "0" "c.2487C>T" "r.(?)" "p.(Asp829=)" "" "0000297482" "00017083" "10" "265" "13" "265" "13" "c.265+13C>T" "r.(=)" "p.(=)" "" "0000297483" "00017083" "30" "3189" "0" "3189" "0" "c.3189C>T" "r.(?)" "p.(Thr1063=)" "" "0000297484" "00017083" "30" "3545" "0" "3545" "0" "c.3545C>T" "r.(?)" "p.(Pro1182Leu)" "" "0000297485" "00017083" "30" "455" "16" "455" "16" "c.455+16C>A" "r.(=)" "p.(=)" "" "0000299192" "00017083" "10" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358His)" "" "0000299193" "00017083" "10" "1080" "0" "1080" "0" "c.1080G>T" "r.(?)" "p.(Val360=)" "" "0000299194" "00017083" "30" "1593" "0" "1593" "0" "c.1593G>A" "r.(?)" "p.(Ala531=)" "" "0000299195" "00017083" "10" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(His622Tyr)" "" "0000299196" "00017083" "10" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Asp709=)" "" "0000299197" "00017083" "30" "2184" "0" "2184" "0" "c.2184C>T" "r.(?)" "p.(Ser728=)" "" "0000299198" "00017083" "10" "2355" "0" "2355" "0" "c.2355C>T" "r.(?)" "p.(Tyr785=)" "" "0000299199" "00017083" "10" "2427" "0" "2427" "0" "c.2427G>C" "r.(?)" "p.(Ser809=)" "" "0000299200" "00017083" "10" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Leu30=)" "" "0000306579" "00017083" "30" "1080" "0" "1080" "0" "c.1080G>T" "r.(?)" "p.(Val360=)" "" "0000306580" "00017083" "30" "1380" "0" "1380" "0" "c.1380C>T" "r.(?)" "p.(Pro460=)" "" "0000306581" "00017083" "30" "1864" "0" "1864" "0" "c.1864C>A" "r.(?)" "p.(His622Asn)" "" "0000320787" "00017083" "30" "1864" "0" "1864" "0" "c.1864C>A" "r.(?)" "p.(His622Asn)" "" "0000320788" "00017083" "10" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358His)" "" "0000507615" "00017083" "50" "3210" "0" "3210" "0" "c.3210G>C" "r.(?)" "p.(Leu1070Phe)" "" "0000507616" "00017083" "10" "2963" "0" "2963" "0" "c.2963C>T" "r.(?)" "p.(Thr988Met)" "" "0000507617" "00017083" "30" "2013" "0" "2013" "0" "c.2013C>T" "r.(?)" "p.(Phe671=)" "" "0000507618" "00017083" "30" "1864" "0" "1864" "0" "c.1864C>T" "r.(?)" "p.(His622Tyr)" "" "0000507620" "00017083" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Ala532=)" "" "0000507621" "00017083" "30" "1593" "0" "1593" "0" "c.1593G>A" "r.(?)" "p.(Ala531=)" "" "0000507623" "00017083" "30" "1425" "0" "1425" "0" "c.1425G>A" "r.(?)" "p.(Ala475=)" "" "0000507624" "00017083" "50" "1273" "0" "1273" "0" "c.1273G>A" "r.(?)" "p.(Val425Met)" "" "0000507626" "00017083" "50" "1083" "3" "1083" "3" "c.1083+3C>T" "r.spl?" "p.?" "" "0000507627" "00017083" "30" "840" "0" "840" "0" "c.840T>C" "r.(?)" "p.(Ser280=)" "" "0000507628" "00017083" "50" "764" "0" "764" "0" "c.764C>G" "r.(?)" "p.(Pro255Arg)" "" "0000507629" "00017083" "50" "689" "0" "689" "0" "c.689C>T" "r.(?)" "p.(Ser230Phe)" "" "0000507630" "00017083" "10" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Thr15Ile)" "" "0000605795" "00017083" "50" "1223" "0" "1223" "0" "c.1223A>G" "r.(?)" "p.(Tyr408Cys)" "" "0000605796" "00017083" "30" "354" "0" "354" "0" "c.354C>A" "r.(?)" "p.(Thr118=)" "" "0000620646" "00017083" "50" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Val1019Met)" "" "0000620647" "00017083" "30" "1371" "5" "1371" "5" "c.1371+5G>A" "r.spl?" "p.?" "" "0000620648" "00017083" "50" "455" "0" "455" "0" "c.455A>T" "r.(?)" "p.(Lys152Met)" "" "0000647708" "00017083" "10" "1073" "0" "1073" "0" "c.1073G>A" "r.(?)" "p.(Arg358His)" "" "0000647709" "00017083" "50" "703" "0" "703" "0" "c.703C>T" "r.(?)" "p.(Arg235Trp)" "" "0000675871" "00017083" "10" "1864" "0" "1864" "0" "c.1864C>A" "r.(?)" "p.(His622Asn)" "" "0000717521" "00017083" "50" "2357" "0" "2357" "0" "c.2357G>C" "r.(?)" "p.(Arg786Pro)" "" "0000717522" "00017083" "50" "1172" "0" "1173" "0" "c.1172_1173del" "r.(?)" "p.(Ser391Ter)" "" "0000717523" "00017083" "50" "530" "0" "530" "0" "c.530T>C" "r.(?)" "p.(Ile177Thr)" "" "0000799386" "00017083" "50" "3289" "0" "3289" "0" "c.3289C>T" "r.(?)" "p.(Leu1097Phe)" "" "0000799387" "00017083" "30" "2679" "0" "2679" "0" "c.2679G>A" "r.(?)" "p.(Thr893=)" "" "0000815844" "00017083" "70" "528" "0" "528" "0" "c.528del" "r.(?)" "p.(Met176Ilefs*9)" "" "0000857507" "00017083" "10" "2427" "0" "2427" "0" "c.2427G>C" "r.(?)" "p.(Ser809=)" "" "0000857508" "00017083" "10" "2127" "0" "2127" "0" "c.2127C>T" "r.(?)" "p.(Asp709=)" "" "0000857509" "00017083" "30" "1080" "0" "1080" "0" "c.1080G>T" "r.(?)" "p.(Val360=)" "" "0000857510" "00017083" "10" "840" "0" "840" "0" "c.840T>C" "r.(?)" "p.(Ser280=)" "" "0000883466" "00017083" "50" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Val1019Met)" "" "0000883467" "00017083" "50" "1247" "0" "1247" "0" "c.1247G>A" "r.(?)" "p.(Trp416*)" "" "0000883468" "00017083" "50" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "" "0000883469" "00017083" "10" "840" "0" "840" "0" "c.840T>C" "r.(?)" "p.(Ser280=)" "" "0000991317" "00017083" "50" "2389" "0" "2389" "0" "c.2389G>A" "r.(?)" "p.(Asp797Asn)" "" "0000991318" "00017083" "30" "1720" "0" "1720" "0" "c.1720G>T" "r.(?)" "p.(Ala574Ser)" "" "0000991319" "00017083" "30" "826" "0" "826" "0" "c.826G>A" "r.(?)" "p.(Ala276Thr)" "" "0001024179" "00017083" "30" "455" "16" "455" "16" "c.455+16C>A" "r.(=)" "p.(=)" "" "0001032087" "00017083" "30" "1596" "0" "1596" "0" "c.1596C>T" "r.(?)" "p.(Ala532=)" "" "0001032088" "00017083" "50" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Gln347*)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 7 "{{screeningid}}" "{{variantid}}" "0000104479" "0000169327" "0000104493" "0000169369" "0000104501" "0000169400" "0000132721" "0000221908" "0000291019" "0000647708" "0000291020" "0000647709" "0000387713" "0000815844"