### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TRDN) # 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}}" "TRDN" "triadin" "6" "q22.31" "unknown" "NG_030438.1" "UD_136018031675" "" "https://www.LOVD.nl/TRDN" "" "1" "12261" "10345" "603283" "1" "1" "1" "1" "This database is one of the gene variant databases from the:" "" "g" "https://databases.lovd.nl/shared/refseq/TRDN_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-02-23 00:00:00" "00006" "2018-12-28 13:15:37" "00000" "2026-09-03 15:08:03" ## 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}}" "00021770" "TRDN" "transcript variant 2" "002" "NM_001251987.1" "" "NP_001238916.1" "" "" "" "-318" "4436" "1386" "123958238" "123670620" "" "0000-00-00 00:00:00" "" "" "00025356" "TRDN" "transcript variant 1" "005" "NM_006073.3" "" "NP_006064.2" "" "" "" "-318" "4452" "2190" "123958238" "123537484" "00006" "2018-12-28 13:13:45" "" "" ## 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" "01597" "CPVT" "tachycardia, ventricular (CPVT)" "AD" "192605" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02523" "CPVT1" "tachycardia, ventricular, catecholaminergic polymorphic, type 1 (CPVT-1)" "AD" "604772" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03951" "CPVT5" "tachycardia, ventricular, catecholaminergic polymorphic, type 5, with/without muscle weakness" "AR" "615441" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05166" "SUD" "death, sudden, unexplained (SUD)" "" "" "" "" "" "00006" "2016-05-19 16:34:23" "00006" "2018-09-11 12:14:13" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TRDN" "02523" "TRDN" "03951" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00080953" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00210693" "" "" "" "1" "" "00006" "{PMID:Roux-Buisson 2012:22422768}" "2-generation family, 1 affected (unaffected carrier parents and brother)" "M" "no" "" "2y" "0" "" "" "French West Indies" "22422768-Fam1II1" "00210694" "" "" "" "1" "" "00006" "{PMID:Roux-Buisson 2012:22422768}" "3-generation family, affected twin brothers (unaffectedchild, parents not tested)" "M" "no" "France" ">26y" "0" "" "" "" "22422768-Fam2II2" "00210695" "" "" "" "1" "" "00006" "{PMID:Roux-Buisson 2012:22422768}" "3-generation family, affected twin brothers (unaffectedchild, parents not tested)" "M" "no" "France" ">26y" "0" "" "" "" "22422768-Fam2II3" "00293968" "" "" "" "31" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305053" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00315502" "" "" "" "1" "" "01602" "{PMID:Neubauer 2021:33895855}" "" "M" "" "Switzerland" "07y" "" "" "" "Europe" "SUDS084" "00478208" "" "" "" "1" "" "00006" "{PMID:Sambuughin 2024:39457051}" "analysis 53 cases with exertional heat illness events" "" "" "United States" "" "0" "" "" "" "?" "00484002" "" "" "" "1" "" "00006" "{PMID:Kontorovich 2021:34368507}" "analtysis 117 acute myocarditis cases" "F" "" "Germany" "" "0" "" "" "" "AM3-5" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00080953" "03951" "00210693" "01597" "00210694" "01597" "00210695" "01597" "00293968" "00198" "00305053" "00198" "00315502" "05166" "00478208" "00198" "00484002" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01597, 02523, 03951, 05166 ## Count = 6 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000060522" "03951" "00080953" "01758" "Familial, autosomal recessive" "" "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (OMIM:615441)" "" "" "" "" "" "" "" "" "" "" "0000159258" "01597" "00210693" "00006" "Isolated (sporadic)" "" "resting ECG following cardiac resuscitation numerous polymorphic or bidirectional ventricular extra beats/runs of polymorphic ventricular tachycardia; 2y-died in hospital after 3 weeks after severe post-anoxic com" "2y" "" "syncope followed by cardiac arrest after shock" "" "" "" "" "CPVT-5" "catecholaminergic polymorphic ventricular tachycardia" "" "0000159259" "01597" "00210694" "00006" "Isolated (sporadic)" "" "onset in infancy; 26y-resting ECG normal, no prolongation QT-interval, exercise testing numerous bidirectional ventricular extra beats, proximal muscle weakness" "" "" "recurrent syncopes at exercise since infancy" "" "" "" "" "CPVT-5" "catecholaminergic polymorphic ventricular tachycardia" "" "0000159260" "01597" "00210695" "00006" "Isolated (sporadic)" "" "clinical examination shows CPVT" "" "" "" "" "" "" "" "CPVT-5" "catecholaminergic polymorphic ventricular tachycardia" "" "0000322112" "05166" "00315502" "01602" "Unknown" "" "SUD" "" "" "" "" "" "" "" "" "" "" "0000366778" "00198" "00484002" "00006" "Unknown" "57y" "not specified" "" "" "" "" "" "" "" "" "acute myocarditis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081065" "00080953" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000211769" "00210693" "1" "00006" "00006" "2012-05-24 22:08:34" "" "" "SEQ" "DNA" "" "" "0000211770" "00210694" "1" "00006" "00006" "2012-05-24 22:08:34" "" "" "SEQ" "DNA" "" "" "0000211771" "00210695" "1" "00006" "00006" "2012-05-24 22:08:34" "" "" "SEQ" "DNA" "" "" "0000295136" "00293968" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306182" "00305053" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000325860" "00315502" "1" "01602" "01602" "2020-12-21 14:10:19" "01602" "2023-02-15 09:47:30" "SEQ-NG-I" "DNA" "" "" "0000479855" "00478208" "1" "00006" "00006" "2026-05-04 13:34:31" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000485650" "00484002" "1" "00006" "00006" "2026-08-21 15:34:52" "" "" "SEQ;SEQ-NG" "DNA" "" "93-gene panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000081065" "TRDN" "0000211769" "TRDN" "0000211770" "TRDN" "0000211771" "TRDN" ## 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 = 172 "{{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}}" "0000130151" "3" "70" "6" "123851697" "123851701" "del" "0" "01758" "TRDN_000039" "g.123851697_123851701del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.123530552_123530556del" "" "likely pathogenic" "ACMG" "0000246449" "0" "10" "6" "123687288" "123687288" "subst" "0.925573" "02330" "TRDN_000041" "g.123687288A>C" "" "" "" "TRDN(NM_006073.4):c.1313T>G (p.I438S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123366143A>C" "" "benign" "" "0000246454" "0" "10" "6" "123892159" "123892159" "subst" "0" "02330" "TRDN_000020" "g.123892159A>T" "" "" "" "TRDN(NM_006073.4):c.141T>A (p.P47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123571014A>T" "" "benign" "" "0000246470" "0" "10" "6" "123687288" "123687288" "subst" "0.00671759" "02330" "TRDN_000004" "g.123687288A>T" "" "" "" "TRDN(NM_006073.4):c.1313T>A (p.I438N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123366143A>T" "" "benign" "" "0000246478" "0" "10" "6" "123786042" "123786042" "del" "0" "02330" "TRDN_000011" "g.123786042del" "" "" "" "TRDN(NM_001256020.1):c.889delT (p.S297Lfs*8), TRDN(NM_001256020.2):c.889delT (p.S297Lfs*8), TRDN-AS1(NR_110844.1):n.175-3919delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123464897del" "" "benign" "" "0000246481" "0" "10" "6" "123699019" "123699019" "subst" "0.153469" "02330" "TRDN_000021" "g.123699019A>C" "" "" "" "TRDN(NM_006073.4):c.1211T>G (p.V404G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123377874A>C" "" "benign" "" "0000246486" "0" "10" "6" "123581804" "123581804" "del" "0" "02330" "TRDN_000048" "g.123581804del" "" "" "" "TRDN(NM_006073.4):c.1805-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123260659del" "" "benign" "" "0000246487" "0" "10" "6" "123588913" "123588913" "subst" "1.06489E-5" "02330" "TRDN_000052" "g.123588913A>G" "" "" "" "TRDN(NM_006073.4):c.1739-17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123267768A>G" "" "benign" "" "0000246488" "0" "10" "6" "123599505" "123599505" "subst" "0.00645305" "02330" "TRDN_000056" "g.123599505A>C" "" "" "" "TRDN(NM_006073.4):c.1538-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123278360A>C" "" "benign" "" "0000246489" "0" "10" "6" "123600192" "123600192" "subst" "8.26043E-6" "02330" "TRDN_000058" "g.123600192A>G" "" "" "" "TRDN(NM_006073.4):c.1537+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123279047A>G" "" "benign" "" "0000246490" "0" "10" "6" "123703299" "123703299" "subst" "0" "02330" "TRDN_000024" "g.123703299A>G" "" "" "" "TRDN(NM_006073.4):c.1136-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123382154A>G" "" "benign" "" "0000246492" "0" "10" "6" "123824786" "123824786" "subst" "1.43401E-5" "02330" "TRDN_000028" "g.123824786A>G" "" "" "" "TRDN(NM_001256021.2):c.*10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123503641A>G" "" "benign" "" "0000246493" "0" "10" "6" "123869784" "123869784" "del" "0" "02330" "TRDN_000017" "g.123869784del" "" "" "" "TRDN(NM_006073.4):c.233-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123548639del" "" "benign" "" "0000246517" "0" "30" "6" "123824803" "123824803" "subst" "0.000386645" "02330" "TRDN_000013" "g.123824803A>G" "" "" "" "TRDN(NM_001256021.2):c.854T>C (p.M285T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123503658A>G" "" "likely benign" "" "0000246521" "0" "30" "6" "123588908" "123588908" "subst" "0" "02330" "TRDN_000051" "g.123588908A>T" "" "" "" "TRDN(NM_006073.4):c.1739-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123267763A>T" "" "likely benign" "" "0000246522" "0" "30" "6" "123786135" "123786135" "subst" "1.65218E-5" "02330" "TRDN_000012" "g.123786135A>G" "" "" "" "TRDN(NM_006073.4):c.854-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123464990A>G" "" "likely benign" "" "0000248400" "0" "10" "6" "123687288" "123687288" "subst" "0.925573" "02325" "TRDN_000041" "g.123687288A>C" "" "" "" "TRDN(NM_006073.4):c.1313T>G (p.I438S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123366143A>C" "" "benign" "" "0000309457" "0" "10" "6" "123850414" "123850414" "subst" "0.000154036" "02330" "TRDN_000014" "g.123850414C>T" "" "" "" "TRDN(NM_001256022.2):c.*5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123529269C>T" "" "benign" "" "0000309458" "0" "10" "6" "123759243" "123759243" "subst" "0.00271367" "02330" "TRDN_000026" "g.123759243C>T" "" "" "" "TRDN(NM_006073.4):c.1016G>A (p.S339N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123438098C>T" "" "benign" "" "0000309459" "0" "10" "6" "123714778" "123714778" "subst" "0.00255391" "02330" "TRDN_000025" "g.123714778C>T" "" "" "" "TRDN(NM_006073.4):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123393633C>T" "" "benign" "" "0000309460" "0" "10" "6" "123714764" "123714764" "subst" "0.0317499" "02330" "TRDN_000009" "g.123714764C>T" "" "" "" "TRDN(NM_006073.4):c.1105+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123393619C>T" "" "benign" "" "0000309461" "0" "10" "6" "123702502" "123702502" "subst" "7.98899E-5" "02330" "TRDN_000008" "g.123702502T>A" "" "" "" "TRDN(NM_006073.4):c.1186+13A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123381357T>A" "" "benign" "" "0000309462" "0" "10" "6" "123702499" "123702499" "subst" "0.414535" "02330" "TRDN_000007" "g.123702499G>A" "" "" "" "TRDN(NM_006073.4):c.1186+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123381354G>A" "" "benign" "" "0000309463" "0" "50" "6" "123699045" "123699045" "subst" "0.000639369" "02330" "TRDN_000022" "g.123699045T>C" "" "" "" "TRDN(NM_006073.4):c.1187-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123377900T>C" "" "VUS" "" "0000309464" "0" "10" "6" "123699042" "123699042" "subst" "0.333471" "02330" "TRDN_000006" "g.123699042T>C" "" "" "" "TRDN(NM_006073.4):c.1188A>G (p.K396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123377897T>C" "" "benign" "" "0000309465" "0" "10" "6" "123696766" "123696766" "subst" "0.113738" "02330" "TRDN_000005" "g.123696766G>T" "" "" "" "TRDN(NM_006073.4):c.1257C>A (p.D419E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123375621G>T" "" "benign" "" "0000309466" "0" "50" "6" "123892175" "123892175" "subst" "7.31345E-5" "02330" "TRDN_000038" "g.123892175G>A" "" "" "" "TRDN(NM_006073.4):c.125C>T (p.T42M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123571030G>A" "" "VUS" "" "0000309467" "0" "50" "6" "123673722" "123673722" "subst" "2.45797E-5" "02330" "TRDN_000040" "g.123673722C>T" "" "" "" "TRDN(NM_006073.4):c.1331G>A (p.G444E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123352577C>T" "" "VUS" "" "0000309468" "0" "10" "6" "123658825" "123658825" "subst" "0.2495" "02330" "TRDN_000062" "g.123658825G>T" "" "" "" "TRDN(NM_006073.4):c.1370-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123337680G>T" "" "benign" "" "0000309469" "0" "50" "6" "123658798" "123658798" "subst" "0" "02330" "TRDN_000061" "g.123658798T>G" "" "" "" "TRDN(NM_006073.4):c.1386A>C (p.K462N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123337653T>G" "" "VUS" "" "0000309470" "0" "10" "6" "123658776" "123658776" "subst" "0.0249275" "02330" "TRDN_000060" "g.123658776G>T" "" "" "" "TRDN(NM_006073.4):c.1408C>A (p.L470M, p.(Leu470Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123337631G>T" "" "benign" "" "0000309471" "0" "10" "6" "123637602" "123637602" "subst" "0.000593023" "02330" "TRDN_000059" "g.123637602C>T" "" "" "" "TRDN(NM_006073.4):c.1510G>A (p.G504S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123316457C>T" "" "benign" "" "0000309472" "0" "10" "6" "123600184" "123600184" "subst" "8.37135E-5" "02330" "TRDN_000057" "g.123600184G>A" "" "" "" "TRDN(NM_006073.4):c.1537+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123279039G>A" "" "benign" "" "0000309474" "0" "10" "6" "123594514" "123594514" "dup" "0" "02330" "TRDN_000055" "g.123594514dup" "" "" "" "TRDN(NM_006073.4):c.1598-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123273369dup" "" "benign" "" "0000309475" "0" "10" "6" "123594486" "123594486" "subst" "0.0151027" "02330" "TRDN_000053" "g.123594486T>C" "" "" "" "TRDN(NM_006073.4):c.1620A>G (p.I540M, p.(Ile540Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123273341T>C" "" "benign" "" "0000309480" "0" "10" "6" "123581803" "123581804" "del" "0" "02330" "TRDN_000049" "g.123581803_123581804del" "" "" "" "TRDN(NM_006073.4):c.1805-8_1805-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123260658_123260659del" "" "benign" "" "0000309481" "0" "10" "6" "123581804" "123581804" "dup" "0" "02330" "TRDN_000050" "g.123581804dup" "" "" "" "TRDN(NM_006073.3):c.1805-7dupT, TRDN(NM_006073.4):c.1805-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123260659dup" "" "benign" "" "0000309482" "0" "10" "6" "123577058" "123577058" "subst" "0" "02330" "TRDN_000043" "g.123577058G>T" "" "" "" "TRDN(NM_006073.4):c.1871-11C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123255913G>T" "" "benign" "" "0000309483" "0" "10" "6" "123577062" "123577062" "subst" "0.00242701" "02330" "TRDN_000044" "g.123577062C>T" "" "" "" "TRDN(NM_006073.4):c.1871-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123255917C>T" "" "benign" "" "0000309484" "0" "50" "6" "123892104" "123892104" "subst" "6.90866E-5" "02330" "TRDN_000019" "g.123892104C>T" "" "" "" "TRDN(NM_006073.4):c.196G>A (p.V66I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123570959C>T" "" "VUS" "" "0000309485" "0" "10" "6" "123539904" "123539904" "subst" "0.441763" "02330" "TRDN_000042" "g.123539904C>T" "" "" "" "TRDN(NM_006073.4):c.2051-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123218759C>T" "" "benign" "" "0000309487" "0" "10" "6" "123869783" "123869784" "del" "0" "02330" "TRDN_000035" "g.123869783_123869784del" "" "" "" "TRDN(NM_006073.4):c.233-14_233-13delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123548638_123548639del" "" "benign" "" "0000309489" "0" "10" "6" "123869782" "123869784" "del" "0" "02330" "TRDN_000018" "g.123869782_123869784del" "" "" "" "TRDN(NM_006073.4):c.233-15_233-13delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123548637_123548639del" "" "benign" "" "0000309491" "0" "10" "6" "123869615" "123869615" "subst" "0.000208048" "02330" "TRDN_000016" "g.123869615G>A" "" "" "" "TRDN(NM_006073.4):c.375C>T (p.D125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123548470G>A" "" "benign" "" "0000309492" "0" "10" "6" "123869607" "123869607" "subst" "0.441929" "02330" "TRDN_000033" "g.123869607G>C" "" "" "" "TRDN(NM_006073.4):c.383C>G (p.T128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123548462G>C" "" "benign" "" "0000309493" "0" "10" "6" "123868506" "123868506" "subst" "0.00680916" "02330" "TRDN_000032" "g.123868506C>T" "" "" "" "TRDN(NM_006073.4):c.403G>A (p.E135K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123547361C>T" "" "benign" "" "0000309494" "0" "30" "6" "123851717" "123851723" "del" "0" "02330" "TRDN_000015" "g.123851717_123851723del" "" "" "" "TRDN(NM_006073.4):c.425-12_425-6delATTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123530572_123530578del" "" "likely benign" "" "0000309495" "0" "10" "6" "123851705" "123851705" "subst" "0.00360605" "02330" "TRDN_000031" "g.123851705G>A" "" "" "" "TRDN(NM_001251987.1):c.430C>T (p.(His144Tyr)), TRDN(NM_006073.4):c.430C>T (p.H144Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123530560G>A" "" "benign" "" "0000309496" "0" "10" "6" "123837338" "123837343" "del" "0" "02330" "TRDN_000030" "g.123837338_123837343del" "" "" "" "TRDN(NM_001251987.1):c.503_508del (p.(Glu168_Lys169del)), TRDN(NM_006073.4):c.503_508delAAAAAG (p.E168_K169del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123516193_123516198del" "" "benign" "" "0000309497" "0" "50" "6" "123837307" "123837307" "subst" "0" "02330" "TRDN_000029" "g.123837307T>A" "" "" "" "TRDN(NM_006073.4):c.529A>T (p.K177*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123516162T>A" "" "VUS" "" "0000309499" "0" "10" "6" "123760152" "123760152" "subst" "0.00285787" "02330" "TRDN_000010" "g.123760152G>C" "" "" "" "TRDN(NM_006073.4):c.932-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123439007G>C" "" "benign" "" "0000312030" "0" "10" "6" "123702499" "123702499" "subst" "0.414535" "02325" "TRDN_000007" "g.123702499G>A" "" "" "" "TRDN(NM_006073.4):c.1186+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123381354G>A" "" "benign" "" "0000312031" "0" "10" "6" "123699042" "123699042" "subst" "0.333471" "02325" "TRDN_000006" "g.123699042T>C" "" "" "" "TRDN(NM_006073.4):c.1188A>G (p.K396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123377897T>C" "" "benign" "" "0000312032" "0" "10" "6" "123539904" "123539904" "subst" "0.441763" "02325" "TRDN_000042" "g.123539904C>T" "" "" "" "TRDN(NM_006073.4):c.2051-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123218759C>T" "" "benign" "" "0000312033" "0" "10" "6" "123869607" "123869607" "subst" "0.441929" "02325" "TRDN_000033" "g.123869607G>C" "" "" "" "TRDN(NM_006073.4):c.383C>G (p.T128S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123548462G>C" "" "benign" "" "0000443377" "11" "90" "6" "123892246" "123892249" "del" "0" "00006" "TRDN_000001" "g.123892246_123892249del" "" "{PMID:Roux-Buisson 2012:22422768}" "" "del53_56ACAG (D18Afs*13)" "haplotype analysis suggestive of remote common ancestor" "Germline" "" "" "0" "" "" "g.123571101_123571104del" "" "pathogenic (recessive)" "" "0000443378" "21" "90" "6" "123892246" "123892249" "del" "0" "00006" "TRDN_000001" "g.123892246_123892249del" "" "{PMID:Roux-Buisson 2012:22422768}" "" "del53_56ACAG (D18Afs*13)" "haplotype analysis suggestive of remote common ancestor" "Germline" "" "" "0" "" "" "g.123571101_123571104del" "" "pathogenic (recessive)" "" "0000443379" "1" "90" "6" "123892124" "123892124" "subst" "0" "00006" "TRDN_000002" "g.123892124G>C" "" "{PMID:Roux-Buisson 2012:22422768}" "" "" "" "Germline" "" "" "0" "" "" "g.123570979G>C" "" "pathogenic (recessive)" "" "0000443380" "2" "90" "6" "123825044" "123825044" "subst" "3.74093E-5" "00006" "TRDN_000003" "g.123825044G>A" "" "{PMID:Roux-Buisson 2012:22422768}" "" "" "" "Germline" "" "" "0" "" "" "g.123503899G>A" "" "pathogenic (recessive)" "" "0000443381" "1" "90" "6" "123892124" "123892124" "subst" "0" "00006" "TRDN_000002" "g.123892124G>C" "" "{PMID:Roux-Buisson 2012:22422768}" "" "" "" "Germline" "" "" "0" "" "" "g.123570979G>C" "" "pathogenic (recessive)" "" "0000443382" "2" "90" "6" "123825044" "123825044" "subst" "3.74093E-5" "00006" "TRDN_000003" "g.123825044G>A" "" "{PMID:Roux-Buisson 2012:22422768}" "" "" "" "Germline" "" "" "0" "" "" "g.123503899G>A" "" "pathogenic (recessive)" "" "0000443383" "0" "90" "6" "123892124" "123892124" "subst" "0" "00006" "TRDN_000002" "g.123892124G>C" "" "{PMID:Roux-Buisson 2012:22422768}" "" "" "expression cloning COS-7 cells, mis-localized to ER excl., increased protein stability/turnover" "In vitro (cloned)" "" "" "0" "" "" "g.123570979G>C" "" "NA" "" "0000443384" "0" "90" "6" "123892124" "123892124" "subst" "0" "00006" "TRDN_000002" "g.123892124G>C" "" "{PMID:Roux-Buisson 2012:22422768}" "" "" "in vivo mouse expression cloning, cardiomyocytes normal transcript stability, WB/IHC no TRDN protein" "In vitro (cloned)" "" "" "0" "" "" "g.123570979G>C" "" "NA" "" "0000527056" "0" "30" "6" "123539772" "123539772" "subst" "8.17722E-6" "02327" "TRDN_000063" "g.123539772G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123218627G>C" "" "likely benign" "" "0000527057" "0" "30" "6" "123539852" "123539852" "subst" "6.27401E-5" "02327" "TRDN_000064" "g.123539852T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123218707T>A" "" "likely benign" "" "0000527058" "0" "10" "6" "123576210" "123576210" "subst" "3.61596E-5" "02330" "TRDN_000065" "g.123576210C>T" "" "" "" "TRDN(NM_006073.4):c.1951+16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123255065C>T" "" "benign" "" "0000527059" "0" "10" "6" "123577062" "123577062" "subst" "0.00242701" "02327" "TRDN_000044" "g.123577062C>T" "" "" "" "TRDN(NM_006073.4):c.1871-15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123255917C>T" "" "benign" "" "0000527060" "0" "10" "6" "123580762" "123580762" "subst" "0" "02330" "TRDN_000066" "g.123580762T>C" "" "" "" "TRDN(NM_006073.4):c.1870+7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123259617T>C" "" "benign" "" "0000527061" "0" "10" "6" "123581803" "123581804" "dup" "0" "02330" "TRDN_000067" "g.123581803_123581804dup" "" "" "" "TRDN(NM_006073.4):c.1805-8_1805-7dupTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123260658_123260659dup" "" "benign" "" "0000527063" "0" "30" "6" "123581804" "123581804" "dup" "0" "01943" "TRDN_000050" "g.123581804dup" "" "" "" "TRDN(NM_006073.3):c.1805-7dupT, TRDN(NM_006073.4):c.1805-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123260659dup" "" "likely benign" "" "0000527065" "0" "30" "6" "123595807" "123595807" "subst" "0.000217046" "02327" "TRDN_000068" "g.123595807T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123274662T>G" "" "likely benign" "" "0000527066" "0" "30" "6" "123599505" "123599505" "subst" "0.00645305" "02327" "TRDN_000056" "g.123599505A>C" "" "" "" "TRDN(NM_006073.4):c.1538-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123278360A>C" "" "likely benign" "" "0000527068" "0" "30" "6" "123637652" "123637652" "subst" "0.000217178" "02327" "TRDN_000070" "g.123637652C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123316507C>T" "" "likely benign" "" "0000527069" "0" "30" "6" "123673686" "123673686" "subst" "0.00118229" "02330" "TRDN_000071" "g.123673686T>C" "" "" "" "TRDN(NM_006073.4):c.1367A>G (p.Q456R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123352541T>C" "" "likely benign" "" "0000527072" "0" "10" "6" "123687288" "123687288" "subst" "0.925573" "02327" "TRDN_000041" "g.123687288A>C" "" "" "" "TRDN(NM_006073.4):c.1313T>G (p.I438S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123366143A>C" "" "benign" "" "0000527073" "0" "10" "6" "123687288" "123687288" "subst" "0.00671759" "02327" "TRDN_000004" "g.123687288A>T" "" "" "" "TRDN(NM_006073.4):c.1313T>A (p.I438N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123366143A>T" "" "benign" "" "0000527074" "0" "30" "6" "123703131" "123703134" "dup" "0" "01943" "TRDN_000072" "g.123703131_123703134dup" "" "" "" "TRDN(NM_006073.3):c.1165+158_1165+161dupAGAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123381986_123381989dup" "" "likely benign" "" "0000527075" "0" "10" "6" "123714764" "123714764" "subst" "0.0317499" "02327" "TRDN_000009" "g.123714764C>T" "" "" "" "TRDN(NM_006073.4):c.1105+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123393619C>T" "" "benign" "" "0000527076" "0" "10" "6" "123760152" "123760152" "subst" "0.00285787" "02327" "TRDN_000010" "g.123760152G>C" "" "" "" "TRDN(NM_006073.4):c.932-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123439007G>C" "" "benign" "" "0000527078" "0" "10" "6" "123786042" "123786042" "dup" "0" "02330" "TRDN_000073" "g.123786042dup" "" "" "" "TRDN(NM_001256020.2):c.889dup (p.(*297Phefs*32)), TRDN(NM_001256020.2):c.889dupT (p.S297Ffs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123464897dup" "" "benign" "" "0000527079" "0" "70" "6" "123786130" "123786130" "subst" "0" "02327" "TRDN_000074" "g.123786130T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123464985T>A" "" "likely pathogenic" "" "0000527080" "0" "10" "6" "123824835" "123824835" "subst" "0.000134975" "02330" "TRDN_000075" "g.123824835T>A" "" "" "" "TRDN(NM_001256021.2):c.822A>T (p.G274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123503690T>A" "" "benign" "" "0000527081" "0" "30" "6" "123824837" "123824837" "subst" "0.000773177" "02330" "TRDN_000076" "g.123824837C>T" "" "" "" "TRDN(NM_001256021.2):c.820G>A (p.G274R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123503692C>T" "" "likely benign" "" "0000527082" "0" "90" "6" "123824927" "123824927" "del" "0" "01943" "TRDN_000077" "g.123824927del" "" "" "" "TRDN(NM_006073.3):c.731delC (p.P244Hfs*30)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123503782del" "" "pathogenic" "" "0000527083" "0" "10" "6" "123833457" "123833457" "subst" "0.844271" "02330" "TRDN_000078" "g.123833457G>C" "" "" "" "TRDN(NM_006073.4):c.601C>G (p.L201V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123512312G>C" "" "benign" "" "0000527084" "0" "10" "6" "123833457" "123833457" "subst" "0.844271" "02325" "TRDN_000078" "g.123833457G>C" "" "" "" "TRDN(NM_006073.4):c.601C>G (p.L201V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123512312G>C" "" "benign" "" "0000527085" "0" "30" "6" "123837338" "123837343" "del" "0" "01804" "TRDN_000030" "g.123837338_123837343del" "" "" "" "TRDN(NM_001251987.1):c.503_508del (p.(Glu168_Lys169del)), TRDN(NM_006073.4):c.503_508delAAAAAG (p.E168_K169del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123516193_123516198del" "" "likely benign" "" "0000527086" "0" "10" "6" "123837338" "123837343" "del" "0" "02327" "TRDN_000030" "g.123837338_123837343del" "" "" "" "TRDN(NM_001251987.1):c.503_508del (p.(Glu168_Lys169del)), TRDN(NM_006073.4):c.503_508delAAAAAG (p.E168_K169del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123516193_123516198del" "" "benign" "" "0000527087" "0" "70" "6" "123850440" "123850440" "subst" "4.90011E-5" "02327" "TRDN_000079" "g.123850440T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123529295T>C" "" "likely pathogenic" "" "0000527088" "0" "30" "6" "123851705" "123851705" "subst" "0.00360605" "01804" "TRDN_000031" "g.123851705G>A" "" "" "" "TRDN(NM_001251987.1):c.430C>T (p.(His144Tyr)), TRDN(NM_006073.4):c.430C>T (p.H144Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123530560G>A" "" "likely benign" "" "0000527089" "0" "10" "6" "123851705" "123851705" "subst" "0.00360605" "02327" "TRDN_000031" "g.123851705G>A" "" "" "" "TRDN(NM_001251987.1):c.430C>T (p.(His144Tyr)), TRDN(NM_006073.4):c.430C>T (p.H144Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123530560G>A" "" "benign" "" "0000527090" "0" "10" "6" "123869716" "123869716" "subst" "0.00158092" "02330" "TRDN_000080" "g.123869716C>T" "" "" "" "TRDN(NM_006073.4):c.274G>A (p.V92I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123548571C>T" "" "benign" "" "0000527091" "0" "50" "6" "123869751" "123869751" "subst" "0" "02327" "TRDN_000081" "g.123869751G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123548606G>T" "" "VUS" "" "0000527092" "0" "10" "6" "123869781" "123869784" "del" "0" "02330" "TRDN_000082" "g.123869781_123869784del" "" "" "" "TRDN(NM_006073.4):c.233-16_233-13delTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123548636_123548639del" "" "benign" "" "0000527093" "0" "10" "6" "123869784" "123869784" "dup" "0" "02330" "TRDN_000083" "g.123869784dup" "" "" "" "TRDN(NM_006073.4):c.233-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123548639dup" "" "benign" "" "0000527094" "0" "10" "6" "123892044" "123892044" "subst" "0.0691142" "01943" "TRDN_000084" "g.123892044A>G" "" "" "" "TRDN(NM_006073.3):c.232+24T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123570899A>G" "" "benign" "" "0000527095" "0" "50" "6" "123892076" "123892076" "subst" "4.06865E-6" "02330" "TRDN_000085" "g.123892076T>A" "" "" "" "TRDN(NM_006073.4):c.224A>T (p.N75I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123570931T>A" "" "VUS" "" "0000527096" "0" "70" "6" "123892246" "123892249" "del" "0" "02330" "TRDN_000001" "g.123892246_123892249del" "" "" "" "TRDN(NM_006073.4):c.53_56delACAG (p.D18Afs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123571101_123571104del" "" "likely pathogenic" "" "0000527097" "0" "50" "6" "123892248" "123892248" "subst" "2.03232E-5" "02330" "TRDN_000086" "g.123892248C>G" "" "" "" "TRDN(NM_006073.4):c.52G>C (p.D18H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123571103C>G" "" "VUS" "" "0000527098" "0" "90" "6" "123957870" "123957870" "subst" "0" "02330" "TRDN_000087" "g.123957870T>C" "" "" "" "TRDN(NM_001256021.2):c.22+29A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123636725T>C" "" "pathogenic" "" "0000527099" "0" "50" "6" "123957898" "123957898" "subst" "0" "02330" "TRDN_000088" "g.123957898C>T" "" "" "" "TRDN(NM_006073.4):c.22+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123636753C>T" "" "VUS" "" "0000527100" "0" "10" "6" "123957915" "123957915" "subst" "0" "02330" "TRDN_000089" "g.123957915A>G" "" "" "" "TRDN(NM_006073.4):c.6T>C (p.T2=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123636770A>G" "" "benign" "" "0000609966" "0" "30" "6" "123577067" "123577067" "subst" "0" "02327" "TRDN_000090" "g.123577067A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123255922A>T" "" "likely benign" "" "0000609967" "0" "10" "6" "123581745" "123581745" "subst" "7.94828E-5" "02330" "TRDN_000091" "g.123581745G>T" "" "" "" "TRDN(NM_006073.4):c.1831+12C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123260600G>T" "" "benign" "" "0000609968" "0" "10" "6" "123581789" "123581789" "subst" "0" "02327" "TRDN_000092" "g.123581789G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123260644G>A" "" "benign" "" "0000609969" "0" "30" "6" "123581789" "123581789" "subst" "0" "02327" "TRDN_000093" "g.123581789G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123260644G>T" "" "likely benign" "" "0000609970" "0" "10" "6" "123581804" "123581804" "dup" "0" "02327" "TRDN_000050" "g.123581804dup" "" "" "" "TRDN(NM_006073.3):c.1805-7dupT, TRDN(NM_006073.4):c.1805-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123260659dup" "" "benign" "" "0000609971" "0" "30" "6" "123594494" "123594494" "subst" "0" "02327" "TRDN_000094" "g.123594494C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123273349C>T" "" "likely benign" "" "0000609972" "0" "30" "6" "123673692" "123673692" "subst" "1.63598E-5" "02327" "TRDN_000095" "g.123673692A>G" "" "" "" "TRDN(NM_006073.4):c.1361T>C (p.V454A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123352547A>G" "" "likely benign" "" "0000609973" "0" "30" "6" "123699015" "123699015" "subst" "0" "02327" "TRDN_000096" "g.123699015T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123377870T>C" "" "likely benign" "" "0000609974" "0" "30" "6" "123837283" "123837283" "subst" "0" "02327" "TRDN_000098" "g.123837283T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123516138T>C" "" "likely benign" "" "0000609975" "0" "70" "6" "123837307" "123837307" "subst" "0" "02327" "TRDN_000029" "g.123837307T>A" "" "" "" "TRDN(NM_006073.4):c.529A>T (p.K177*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123516162T>A" "" "likely pathogenic" "" "0000609976" "0" "30" "6" "123850456" "123850456" "subst" "0" "02327" "TRDN_000099" "g.123850456A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123529311A>G" "" "likely benign" "" "0000609977" "0" "10" "6" "123868506" "123868506" "subst" "0.00680916" "02327" "TRDN_000032" "g.123868506C>T" "" "" "" "TRDN(NM_006073.4):c.403G>A (p.E135K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123547361C>T" "" "benign" "" "0000609978" "0" "10" "6" "123892296" "123892296" "subst" "0.000175787" "02330" "TRDN_000100" "g.123892296A>C" "" "" "" "TRDN(NM_006073.4):c.23-19T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123571151A>C" "" "benign" "" "0000609979" "0" "70" "6" "123957898" "123957898" "subst" "4.08227E-6" "02327" "TRDN_000101" "g.123957898C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123636753C>A" "" "likely pathogenic" "" "0000621625" "0" "50" "6" "123824842" "123824842" "subst" "4.08377E-6" "02330" "TRDN_000097" "g.123824842G>C" "" "" "" "TRDN(NM_001256021.2):c.815C>G (p.A272G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123503697G>C" "" "VUS" "" "0000651825" "1" "30" "6" "123837338" "123837343" "del" "0" "03575" "TRDN_000030" "g.123837338_123837343del" "31/2746 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "31 heterozygous; {DB:CLININrs148596612}" "Germline" "" "rs148596612" "0" "" "" "g.123516193_123516198del" "" "likely benign" "" "0000655476" "0" "50" "6" "123824984" "123824984" "subst" "0" "02330" "TRDN_000102" "g.123824984C>T" "" "" "" "TRDN(NM_006073.4):c.673G>A (p.G225R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123503839C>T" "" "VUS" "" "0000669870" "3" "30" "6" "123837328" "123837333" "del" "0" "03575" "TRDN_000030" "g.123837328_123837333del" "1/2746 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs148596612}" "Germline" "" "rs148596612" "0" "" "" "" "" "likely benign" "" "0000677610" "0" "30" "6" "123592291" "123592291" "subst" "0.000360967" "02330" "TRDN_000103" "g.123592291T>G" "" "" "" "TRDN(NM_006073.4):c.1713A>C (p.E571D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677611" "0" "10" "6" "123696734" "123696734" "subst" "0" "02330" "TRDN_000104" "g.123696734A>C" "" "" "" "TRDN(NM_006073.4):c.1273+16T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677612" "0" "10" "6" "123696766" "123696766" "subst" "0.113738" "02327" "TRDN_000005" "g.123696766G>T" "" "" "" "TRDN(NM_006073.4):c.1257C>A (p.D419E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000677613" "0" "50" "6" "123851696" "123851696" "subst" "0" "02327" "TRDN_000105" "g.123851696T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677614" "0" "50" "6" "123892076" "123892076" "subst" "4.06865E-6" "02327" "TRDN_000085" "g.123892076T>A" "" "" "" "TRDN(NM_006073.4):c.224A>T (p.N75I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689613" "0" "10" "6" "123580813" "123580814" "del" "0" "02330" "TRDN_000106" "g.123580813_123580814del" "" "" "" "TRDN(NM_006073.4):c.1832-5_1832-4delCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000689614" "0" "50" "6" "123687319" "123687319" "subst" "0.00011807" "01943" "TRDN_000107" "g.123687319G>A" "" "" "" "TRDN(NM_006073.3):c.1282C>T (p.R428*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689615" "0" "10" "6" "123786042" "123786042" "del" "0" "01943" "TRDN_000011" "g.123786042del" "" "" "" "TRDN(NM_001256020.1):c.889delT (p.S297Lfs*8), TRDN(NM_001256020.2):c.889delT (p.S297Lfs*8), TRDN-AS1(NR_110844.1):n.175-3919delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000709014" "0" "70" "6" "123576254" "123576255" "del" "0" "01602" "TRDN_000108" "g.123576254_123576255del" "" "{PMID:Neubauer 2021:33895855}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000720652" "0" "10" "6" "123591015" "123591015" "subst" "0.0010154" "02330" "TRDN_000109" "g.123591015T>C" "" "" "" "TRDN(NM_006073.4):c.1721-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720653" "0" "30" "6" "123759284" "123759284" "subst" "0.000106738" "02330" "TRDN_000110" "g.123759284A>C" "" "" "" "TRDN(NM_006073.4):c.992-17T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720654" "0" "10" "6" "123869784" "123869784" "del" "0" "02326" "TRDN_000017" "g.123869784del" "" "" "" "TRDN(NM_006073.4):c.233-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000720655" "0" "10" "6" "123892174" "123892174" "subst" "1.62522E-5" "02330" "TRDN_000111" "g.123892174C>T" "" "" "" "TRDN(NM_006073.4):c.126G>A (p.T42=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000802293" "0" "50" "6" "123539883" "123539883" "subst" "0" "02330" "TRDN_000112" "g.123539883G>A" "" "" "" "TRDN(NM_006073.4):c.2053C>T (p.P685S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000802294" "0" "10" "6" "123581804" "123581804" "dup" "0" "02326" "TRDN_000050" "g.123581804dup" "" "" "" "TRDN(NM_006073.3):c.1805-7dupT, TRDN(NM_006073.4):c.1805-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851053" "0" "50" "6" "123576256" "123576256" "subst" "0" "02326" "TRDN_000113" "g.123576256C>G" "" "" "" "TRDN(NM_006073.4):c.1921G>C (p.E641Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851054" "0" "10" "6" "123588859" "123588859" "subst" "1.45508E-5" "02330" "TRDN_000114" "g.123588859T>G" "" "" "" "TRDN(NM_006073.4):c.1776A>C (p.I592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851055" "0" "30" "6" "123591015" "123591015" "subst" "0.0010154" "02327" "TRDN_000109" "g.123591015T>C" "" "" "" "TRDN(NM_006073.4):c.1721-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851056" "0" "30" "6" "123594486" "123594486" "subst" "0.0151027" "02327" "TRDN_000053" "g.123594486T>C" "" "" "" "TRDN(NM_006073.4):c.1620A>G (p.I540M, p.(Ile540Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851057" "0" "30" "6" "123673671" "123673672" "ins" "0" "02327" "TRDN_000115" "g.123673671_123673672insT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851058" "0" "10" "6" "123673673" "123673673" "subst" "9.62131E-6" "02330" "TRDN_000116" "g.123673673T>C" "" "" "" "TRDN(NM_001251987.2):c.1383A>G (p.K461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851059" "0" "50" "6" "123825000" "123825002" "del" "0" "02327" "TRDN_000117" "g.123825000_123825002del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851060" "0" "50" "6" "123892229" "123892229" "subst" "0.000341302" "02330" "TRDN_000118" "g.123892229A>T" "" "" "" "TRDN(NM_006073.4):c.71T>A (p.V24E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000887028" "0" "10" "6" "123594101" "123594101" "subst" "0" "02330" "TRDN_000119" "g.123594101C>A" "" "" "" "TRDN(NM_006073.4):c.1672+8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000887029" "0" "10" "6" "123673656" "123673656" "subst" "2.90843E-5" "02330" "TRDN_000120" "g.123673656A>G" "" "" "" "TRDN(NM_001251987.2):c.*14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912399" "0" "10" "6" "123594514" "123594514" "dup" "0" "02325" "TRDN_000055" "g.123594514dup" "" "" "" "TRDN(NM_006073.4):c.1598-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000912400" "0" "10" "6" "123714778" "123714778" "subst" "0.00255391" "02326" "TRDN_000025" "g.123714778C>T" "" "" "" "TRDN(NM_006073.4):c.1096G>A (p.A366T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929141" "0" "50" "6" "123594136" "123594136" "subst" "0" "02326" "TRDN_000121" "g.123594136C>T" "" "" "" "TRDN(NM_006073.4):c.1645G>A (p.E549K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929142" "0" "50" "6" "123595827" "123595827" "subst" "0" "02330" "TRDN_000122" "g.123595827A>G" "" "" "" "TRDN(NM_006073.4):c.1568-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929143" "0" "50" "6" "123699026" "123699026" "subst" "0" "02327" "TRDN_000123" "g.123699026T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929144" "0" "70" "6" "123759207" "123759207" "subst" "0" "02327" "TRDN_000124" "g.123759207C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000948637" "0" "10" "6" "123539731" "123539731" "subst" "0.000371064" "02330" "TRDN_000125" "g.123539731G>A" "" "" "" "TRDN(NM_006073.4):c.*15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000948638" "0" "50" "6" "123696746" "123696746" "subst" "7.06255E-6" "02326" "TRDN_000126" "g.123696746A>G" "" "" "" "TRDN(NM_006073.4):c.1273+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976952" "0" "30" "6" "123581788" "123581789" "ins" "0" "02325" "TRDN_000127" "g.123581788_123581789insT" "" "" "" "TRDN(NM_006073.4):c.1805-6_1805-5insA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995317" "0" "30" "6" "123580785" "123580785" "subst" "0" "02330" "TRDN_000128" "g.123580785A>C" "" "" "" "TRDN(NM_006073.4):c.1854T>G (p.S618=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995318" "0" "10" "6" "123591015" "123591015" "subst" "4.11093E-6" "02330" "TRDN_000129" "g.123591015T>A" "" "" "" "TRDN(NM_006073.4):c.1721-4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995319" "0" "30" "6" "123592313" "123592313" "subst" "6.5292E-5" "02330" "TRDN_000130" "g.123592313T>C" "" "" "" "TRDN(NM_006073.4):c.1691A>G (p.Q564R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995320" "0" "50" "6" "123592317" "123592317" "subst" "0" "02330" "TRDN_000131" "g.123592317T>C" "" "" "" "TRDN(NM_006073.4):c.1687A>G (p.K563E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995321" "0" "50" "6" "123696746" "123696746" "subst" "7.06255E-6" "02330" "TRDN_000126" "g.123696746A>G" "" "" "" "TRDN(NM_006073.4):c.1273+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000995322" "0" "10" "6" "123837358" "123837358" "subst" "5.33707E-5" "02330" "TRDN_000132" "g.123837358A>G" "" "" "" "TRDN(NM_006073.4):c.485-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000995323" "0" "10" "6" "123869783" "123869784" "del" "0" "02326" "TRDN_000035" "g.123869783_123869784del" "" "" "" "TRDN(NM_006073.4):c.233-14_233-13delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014170" "0" "30" "6" "123673692" "123673692" "subst" "1.63598E-5" "02330" "TRDN_000095" "g.123673692A>G" "" "" "" "TRDN(NM_006073.4):c.1361T>C (p.V454A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001035449" "0" "10" "6" "123594486" "123594486" "subst" "0.0151027" "01804" "TRDN_000053" "g.123594486T>C" "" "" "" "TRDN(NM_006073.4):c.1620A>G (p.I540M, p.(Ile540Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001035450" "0" "10" "6" "123658776" "123658776" "subst" "0.0249275" "01804" "TRDN_000060" "g.123658776G>T" "" "" "" "TRDN(NM_006073.4):c.1408C>A (p.L470M, p.(Leu470Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001046051" "0" "50" "6" "123653026" "123653026" "subst" "0" "02325" "TRDN_000133" "g.123653026T>C" "" "" "" "TRDN(NM_006073.4):c.1469A>G (p.K490R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001052480" "0" "30" "6" "123714764" "123714764" "subst" "0.0317499" "01804" "TRDN_000009" "g.123714764C>T" "" "" "" "TRDN(NM_006073.4):c.1105+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001052481" "0" "50" "6" "123786042" "123786042" "dup" "0" "01804" "TRDN_000073" "g.123786042dup" "" "" "" "TRDN(NM_001256020.2):c.889dup (p.(*297Phefs*32)), TRDN(NM_001256020.2):c.889dupT (p.S297Ffs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001064641" "0" "30" "6" "123581787" "123581788" "dup" "0" "02325" "TRDN_000134" "g.123581787_123581788dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001064642" "0" "50" "6" "123892076" "123892076" "subst" "4.06865E-6" "02325" "TRDN_000085" "g.123892076T>A" "" "" "" "TRDN(NM_006073.4):c.224A>T (p.N75I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001075846" "0" "50" "6" "123892211" "123892211" "subst" "1.62501E-5" "00006" "TRDN_000135" "g.123892211T>C" "" "{PMID:Sambuughin 2024:39457051}" "" "" "combination with other variants not reported" "Germline/De novo (untested)" "" "rs781494795" "0" "" "" "g.123571066T>C" "" "VUS" "" "0001083553" "0" "70" "6" "123760087" "123760087" "subst" "0" "00006" "chr6_008416" "g.123760087A>T" "" "{PMID:Kontorovich 2021:34368507}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.123438942A>T" "" "likely pathogenic" "" "0001084168" "0" "50" "6" "123592334" "123592334" "subst" "0" "03779" "chr6_008422" "g.123592334G>C" "" "" "" "" "" "Unknown" "" "rs762200112" "0" "" "" "" "" "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 TRDN ## Count = 331 "{{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}}" "0000130151" "00021770" "70" "438" "0" "442" "0" "c.438_442del" "r.(?)" "p.(Lys147*)" "" "0000130151" "00025356" "00" "438" "0" "442" "0" "c.438_442del" "r.(?)" "p.(Lys147*)" "" "0000246449" "00021770" "10" "1316" "0" "1316" "0" "c.1316T>G" "r.(?)" "p.(Ile439Ser)" "" "0000246449" "00025356" "10" "1313" "0" "1313" "0" "c.1313T>G" "r.(?)" "p.(Ile438Ser)" "" "0000246454" "00021770" "10" "141" "0" "141" "0" "c.141T>A" "r.(?)" "p.(Pro47=)" "" "0000246454" "00025356" "10" "141" "0" "141" "0" "c.141T>A" "r.(?)" "p.(Pro47=)" "" "0000246470" "00021770" "10" "1316" "0" "1316" "0" "c.1316T>A" "r.(?)" "p.(Ile439Asn)" "" "0000246470" "00025356" "10" "1313" "0" "1313" "0" "c.1313T>A" "r.(?)" "p.(Ile438Asn)" "" "0000246478" "00021770" "10" "931" "18" "931" "18" "c.931+18del" "r.(=)" "p.(=)" "" "0000246478" "00025356" "10" "931" "18" "931" "18" "c.931+18del" "r.(=)" "p.(=)" "" "0000246481" "00021770" "10" "1214" "0" "1214" "0" "c.1214T>G" "r.(?)" "p.(Val405Gly)" "" "0000246481" "00025356" "10" "1211" "0" "1211" "0" "c.1211T>G" "r.(?)" "p.(Val404Gly)" "" "0000246486" "00021770" "10" "93266" "0" "93266" "0" "c.*91880del" "r.(?)" "p.(=)" "" "0000246486" "00025356" "10" "1805" "-7" "1805" "-7" "c.1805-7del" "r.(=)" "p.(=)" "" "0000246487" "00021770" "10" "86143" "0" "86143" "0" "c.*84757T>C" "r.(=)" "p.(=)" "" "0000246487" "00025356" "10" "1739" "-17" "1739" "-17" "c.1739-17T>C" "r.(=)" "p.(=)" "" "0000246488" "00021770" "10" "75551" "0" "75551" "0" "c.*74165T>G" "r.(=)" "p.(=)" "" "0000246488" "00025356" "10" "1538" "-13" "1538" "-13" "c.1538-13T>G" "r.(=)" "p.(=)" "" "0000246489" "00021770" "10" "74864" "0" "74864" "0" "c.*73478T>C" "r.(=)" "p.(=)" "" "0000246489" "00025356" "10" "1537" "9" "1537" "9" "c.1537+9T>C" "r.(=)" "p.(=)" "" "0000246490" "00021770" "10" "1139" "-7" "1139" "-7" "c.1139-7T>C" "r.(=)" "p.(=)" "" "0000246490" "00025356" "10" "1136" "-7" "1136" "-7" "c.1136-7T>C" "r.(=)" "p.(=)" "" "0000246492" "00021770" "10" "793" "78" "793" "78" "c.793+78T>C" "r.(=)" "p.(=)" "" "0000246492" "00025356" "10" "793" "78" "793" "78" "c.793+78T>C" "r.(=)" "p.(=)" "" "0000246493" "00021770" "10" "233" "-13" "233" "-13" "c.233-13del" "r.(=)" "p.(=)" "" "0000246493" "00025356" "10" "233" "-13" "233" "-13" "c.233-13del" "r.(=)" "p.(=)" "" "0000246517" "00021770" "30" "793" "61" "793" "61" "c.793+61T>C" "r.(=)" "p.(=)" "" "0000246517" "00025356" "30" "793" "61" "793" "61" "c.793+61T>C" "r.(=)" "p.(=)" "" "0000246521" "00021770" "30" "86148" "0" "86148" "0" "c.*84762T>A" "r.(=)" "p.(=)" "" "0000246521" "00025356" "30" "1739" "-12" "1739" "-12" "c.1739-12T>A" "r.(=)" "p.(=)" "" "0000246522" "00021770" "30" "854" "-7" "854" "-7" "c.854-7T>C" "r.(=)" "p.(=)" "" "0000246522" "00025356" "30" "854" "-7" "854" "-7" "c.854-7T>C" "r.(=)" "p.(=)" "" "0000248400" "00021770" "10" "1316" "0" "1316" "0" "c.1316T>G" "r.(?)" "p.(Ile439Ser)" "" "0000248400" "00025356" "10" "1313" "0" "1313" "0" "c.1313T>G" "r.(?)" "p.(Ile438Ser)" "" "0000309457" "00021770" "10" "484" "1237" "484" "1237" "c.484+1237G>A" "r.(=)" "p.(=)" "" "0000309457" "00025356" "10" "484" "1237" "484" "1237" "c.484+1237G>A" "r.(=)" "p.(=)" "" "0000309458" "00021770" "10" "1019" "0" "1019" "0" "c.1019G>A" "r.(?)" "p.(Ser340Asn)" "" "0000309458" "00025356" "10" "1016" "0" "1016" "0" "c.1016G>A" "r.(?)" "p.(Ser339Asn)" "" "0000309459" "00021770" "10" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Ala367Thr)" "" "0000309459" "00025356" "10" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "0000309460" "00021770" "10" "1108" "5" "1108" "5" "c.1108+5G>A" "r.spl?" "p.?" "" "0000309460" "00025356" "10" "1105" "5" "1105" "5" "c.1105+5G>A" "r.spl?" "p.?" "" "0000309461" "00021770" "10" "1189" "13" "1189" "13" "c.1189+13A>T" "r.(=)" "p.(=)" "" "0000309461" "00025356" "10" "1186" "13" "1186" "13" "c.1186+13A>T" "r.(=)" "p.(=)" "" "0000309462" "00021770" "10" "1189" "16" "1189" "16" "c.1189+16C>T" "r.(=)" "p.(=)" "" "0000309462" "00025356" "10" "1186" "16" "1186" "16" "c.1186+16C>T" "r.(=)" "p.(=)" "" "0000309463" "00021770" "50" "1190" "-2" "1190" "-2" "c.1190-2A>G" "r.spl?" "p.?" "" "0000309463" "00025356" "50" "1187" "-2" "1187" "-2" "c.1187-2A>G" "r.spl?" "p.?" "" "0000309464" "00021770" "10" "1191" "0" "1191" "0" "c.1191A>G" "r.(?)" "p.(Lys397=)" "" "0000309464" "00025356" "10" "1188" "0" "1188" "0" "c.1188A>G" "r.(?)" "p.(Lys396=)" "" "0000309465" "00021770" "10" "1260" "0" "1260" "0" "c.1260C>A" "r.(?)" "p.(Asp420Glu)" "" "0000309465" "00025356" "10" "1257" "0" "1257" "0" "c.1257C>A" "r.(?)" "p.(Asp419Glu)" "" "0000309466" "00021770" "50" "125" "0" "125" "0" "c.125C>T" "r.(?)" "p.(Thr42Met)" "" "0000309466" "00025356" "50" "125" "0" "125" "0" "c.125C>T" "r.(?)" "p.(Thr42Met)" "" "0000309467" "00021770" "50" "1334" "0" "1334" "0" "c.1334G>A" "r.(?)" "p.(Gly445Glu)" "" "0000309467" "00025356" "50" "1331" "0" "1331" "0" "c.1331G>A" "r.(?)" "p.(Gly444Glu)" "" "0000309468" "00021770" "10" "16231" "0" "16231" "0" "c.*14845C>A" "r.(=)" "p.(=)" "" "0000309468" "00025356" "10" "1370" "-11" "1370" "-11" "c.1370-11C>A" "r.(=)" "p.(=)" "" "0000309469" "00021770" "50" "16258" "0" "16258" "0" "c.*14872A>C" "r.(=)" "p.(=)" "" "0000309469" "00025356" "50" "1386" "0" "1386" "0" "c.1386A>C" "r.(?)" "p.(Lys462Asn)" "" "0000309470" "00021770" "10" "16280" "0" "16280" "0" "c.*14894C>A" "r.(=)" "p.(=)" "" "0000309470" "00025356" "10" "1408" "0" "1408" "0" "c.1408C>A" "r.(?)" "p.(Leu470Met)" "" "0000309471" "00021770" "10" "37454" "0" "37454" "0" "c.*36068G>A" "r.(=)" "p.(=)" "" "0000309471" "00025356" "10" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Gly504Ser)" "" "0000309472" "00021770" "10" "74872" "0" "74872" "0" "c.*73486C>T" "r.(=)" "p.(=)" "" "0000309472" "00025356" "10" "1537" "17" "1537" "17" "c.1537+17C>T" "r.(=)" "p.(=)" "" "0000309474" "00021770" "10" "80545" "0" "80545" "0" "c.*79159dup" "r.(?)" "p.(=)" "" "0000309474" "00025356" "10" "1598" "-3" "1598" "-3" "c.1598-3dup" "r.spl?" "p.?" "" "0000309475" "00021770" "10" "80570" "0" "80570" "0" "c.*79184A>G" "r.(=)" "p.(=)" "" "0000309475" "00025356" "10" "1620" "0" "1620" "0" "c.1620A>G" "r.(?)" "p.(Ile540Met)" "" "0000309480" "00021770" "10" "93265" "0" "93266" "0" "c.*91879_*91880del" "r.(=)" "p.(=)" "" "0000309480" "00025356" "10" "1805" "-8" "1805" "-7" "c.1805-8_1805-7del" "r.(=)" "p.(=)" "" "0000309481" "00021770" "10" "93266" "0" "93266" "0" "c.*91880dup" "r.(?)" "p.(=)" "" "0000309481" "00025356" "10" "1805" "-7" "1805" "-7" "c.1805-7dup" "r.(=)" "p.(=)" "" "0000309482" "00021770" "10" "97998" "0" "97998" "0" "c.*96612C>A" "r.(=)" "p.(=)" "" "0000309482" "00025356" "10" "1871" "-11" "1871" "-11" "c.1871-11C>A" "r.(=)" "p.(=)" "" "0000309483" "00021770" "10" "97994" "0" "97994" "0" "c.*96608G>A" "r.(=)" "p.(=)" "" "0000309483" "00025356" "10" "1871" "-15" "1871" "-15" "c.1871-15G>A" "r.(=)" "p.(=)" "" "0000309484" "00021770" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Ile)" "" "0000309484" "00025356" "50" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Val66Ile)" "" "0000309485" "00021770" "10" "135152" "0" "135152" "0" "c.*133766G>A" "r.(=)" "p.(=)" "" "0000309485" "00025356" "10" "2051" "-19" "2051" "-19" "c.2051-19G>A" "r.(=)" "p.(=)" "" "0000309487" "00021770" "10" "233" "-14" "233" "-13" "c.233-14_233-13del" "r.(=)" "p.(=)" "" "0000309487" "00025356" "10" "233" "-14" "233" "-13" "c.233-14_233-13del" "r.(=)" "p.(=)" "" "0000309489" "00021770" "10" "233" "-15" "233" "-13" "c.233-15_233-13del" "r.(=)" "p.(=)" "" "0000309489" "00025356" "10" "233" "-15" "233" "-13" "c.233-15_233-13del" "r.(=)" "p.(=)" "" "0000309491" "00021770" "10" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(Asp125=)" "" "0000309491" "00025356" "10" "375" "0" "375" "0" "c.375C>T" "r.(?)" "p.(Asp125=)" "" "0000309492" "00021770" "10" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Thr128Ser)" "" "0000309492" "00025356" "10" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Thr128Ser)" "" "0000309493" "00021770" "10" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Glu135Lys)" "" "0000309493" "00025356" "10" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Glu135Lys)" "" "0000309494" "00021770" "30" "425" "-12" "425" "-6" "c.425-12_425-6del" "r.(=)" "p.(=)" "" "0000309494" "00025356" "30" "425" "-12" "425" "-6" "c.425-12_425-6del" "r.(=)" "p.(=)" "" "0000309495" "00021770" "10" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(His144Tyr)" "" "0000309495" "00025356" "10" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(His144Tyr)" "" "0000309496" "00021770" "10" "503" "0" "508" "0" "c.503_508del" "r.(?)" "p.(Glu168_Lys169del)" "" "0000309496" "00025356" "10" "503" "0" "508" "0" "c.503_508del" "r.(?)" "p.(Glu168_Lys169del)" "" "0000309497" "00021770" "50" "529" "0" "529" "0" "c.529A>T" "r.(?)" "p.(Lys177Ter)" "" "0000309497" "00025356" "50" "529" "0" "529" "0" "c.529A>T" "r.(?)" "p.(Lys177Ter)" "" "0000309499" "00021770" "10" "932" "-4" "932" "-4" "c.932-4C>G" "r.spl?" "p.?" "" "0000309499" "00025356" "10" "932" "-4" "932" "-4" "c.932-4C>G" "r.spl?" "p.?" "" "0000312030" "00021770" "10" "1189" "16" "1189" "16" "c.1189+16C>T" "r.(=)" "p.(=)" "" "0000312030" "00025356" "10" "1186" "16" "1186" "16" "c.1186+16C>T" "r.(=)" "p.(=)" "" "0000312031" "00021770" "10" "1191" "0" "1191" "0" "c.1191A>G" "r.(?)" "p.(Lys397=)" "" "0000312031" "00025356" "10" "1188" "0" "1188" "0" "c.1188A>G" "r.(?)" "p.(Lys396=)" "" "0000312032" "00021770" "10" "135152" "0" "135152" "0" "c.*133766G>A" "r.(=)" "p.(=)" "" "0000312032" "00025356" "10" "2051" "-19" "2051" "-19" "c.2051-19G>A" "r.(=)" "p.(=)" "" "0000312033" "00021770" "10" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Thr128Ser)" "" "0000312033" "00025356" "10" "383" "0" "383" "0" "c.383C>G" "r.(?)" "p.(Thr128Ser)" "" "0000443377" "00025356" "90" "53" "0" "56" "0" "c.53_56del" "r.(?)" "p.(Asp18Alafs*14)" "2" "0000443378" "00025356" "90" "53" "0" "56" "0" "c.53_56del" "r.(?)" "p.(Asp18Alafs*14)" "2" "0000443379" "00025356" "90" "176" "0" "176" "0" "c.176C>G" "r.(?)" "p.(Thr59Arg)" "2" "0000443380" "00025356" "90" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Gln205*)" "8" "0000443381" "00025356" "90" "176" "0" "176" "0" "c.176C>G" "r.(?)" "p.(Thr59Arg)" "2" "0000443382" "00025356" "90" "613" "0" "613" "0" "c.613C>T" "r.(?)" "p.(Gln205*)" "8" "0000443383" "00025356" "90" "176" "0" "176" "0" "c.176C>G" "r.(?)" "p.Thr59Arg" "2" "0000443384" "00025356" "90" "176" "0" "176" "0" "c.176C>G" "r.(?)" "p.Thr59Arg" "2" "0000527056" "00021770" "30" "135284" "0" "135284" "0" "c.*133898C>G" "r.(=)" "p.(=)" "" "0000527056" "00025356" "30" "2164" "0" "2164" "0" "c.2164C>G" "r.(?)" "p.(Pro722Ala)" "" "0000527057" "00021770" "30" "135204" "0" "135204" "0" "c.*133818A>T" "r.(=)" "p.(=)" "" "0000527057" "00025356" "30" "2084" "0" "2084" "0" "c.2084A>T" "r.(?)" "p.(Asp695Val)" "" "0000527058" "00021770" "10" "98846" "0" "98846" "0" "c.*97460G>A" "r.(=)" "p.(=)" "" "0000527058" "00025356" "10" "1951" "16" "1951" "16" "c.1951+16G>A" "r.(=)" "p.(=)" "" "0000527059" "00021770" "10" "97994" "0" "97994" "0" "c.*96608G>A" "r.(=)" "p.(=)" "" "0000527059" "00025356" "10" "1871" "-15" "1871" "-15" "c.1871-15G>A" "r.(=)" "p.(=)" "" "0000527060" "00021770" "10" "94294" "0" "94294" "0" "c.*92908A>G" "r.(=)" "p.(=)" "" "0000527060" "00025356" "10" "1870" "7" "1870" "7" "c.1870+7A>G" "r.(=)" "p.(=)" "" "0000527061" "00021770" "10" "93265" "0" "93266" "0" "c.*91879_*91880dup" "r.(=)" "p.(=)" "" "0000527061" "00025356" "10" "1805" "-8" "1805" "-7" "c.1805-8_1805-7dup" "r.(=)" "p.(=)" "" "0000527063" "00021770" "30" "93266" "0" "93266" "0" "c.*91880dup" "r.(?)" "p.(=)" "" "0000527063" "00025356" "30" "1805" "-7" "1805" "-7" "c.1805-7dup" "r.(=)" "p.(=)" "" "0000527065" "00021770" "30" "79249" "0" "79249" "0" "c.*77863A>C" "r.(=)" "p.(=)" "" "0000527065" "00025356" "30" "1576" "0" "1576" "0" "c.1576A>C" "r.(?)" "p.(Ile526Leu)" "" "0000527066" "00021770" "30" "75551" "0" "75551" "0" "c.*74165T>G" "r.(=)" "p.(=)" "" "0000527066" "00025356" "30" "1538" "-13" "1538" "-13" "c.1538-13T>G" "r.(=)" "p.(=)" "" "0000527068" "00021770" "30" "37404" "0" "37404" "0" "c.*36018G>A" "r.(=)" "p.(=)" "" "0000527068" "00025356" "30" "1472" "-12" "1472" "-12" "c.1472-12G>A" "r.(=)" "p.(=)" "" "0000527069" "00021770" "30" "1370" "0" "1370" "0" "c.1370A>G" "r.(?)" "p.(Gln457Arg)" "" "0000527069" "00025356" "30" "1367" "0" "1367" "0" "c.1367A>G" "r.(?)" "p.(Gln456Arg)" "" "0000527072" "00021770" "10" "1316" "0" "1316" "0" "c.1316T>G" "r.(?)" "p.(Ile439Ser)" "" "0000527072" "00025356" "10" "1313" "0" "1313" "0" "c.1313T>G" "r.(?)" "p.(Ile438Ser)" "" "0000527073" "00021770" "10" "1316" "0" "1316" "0" "c.1316T>A" "r.(?)" "p.(Ile439Asn)" "" "0000527073" "00025356" "10" "1313" "0" "1313" "0" "c.1313T>A" "r.(?)" "p.(Ile438Asn)" "" "0000527074" "00021770" "30" "1168" "158" "1168" "161" "c.1168+158_1168+161dup" "r.(=)" "p.(=)" "" "0000527074" "00025356" "30" "1165" "158" "1165" "161" "c.1165+158_1165+161dup" "r.(=)" "p.(=)" "" "0000527075" "00021770" "10" "1108" "5" "1108" "5" "c.1108+5G>A" "r.spl?" "p.?" "" "0000527075" "00025356" "10" "1105" "5" "1105" "5" "c.1105+5G>A" "r.spl?" "p.?" "" "0000527076" "00021770" "10" "932" "-4" "932" "-4" "c.932-4C>G" "r.spl?" "p.?" "" "0000527076" "00025356" "10" "932" "-4" "932" "-4" "c.932-4C>G" "r.spl?" "p.?" "" "0000527078" "00021770" "10" "931" "18" "931" "18" "c.931+18dup" "r.(=)" "p.(=)" "" "0000527078" "00025356" "10" "931" "18" "931" "18" "c.931+18dup" "r.(=)" "p.(=)" "" "0000527079" "00021770" "70" "854" "-2" "854" "-2" "c.854-2A>T" "r.spl?" "p.?" "" "0000527079" "00025356" "70" "854" "-2" "854" "-2" "c.854-2A>T" "r.spl?" "p.?" "" "0000527080" "00021770" "10" "793" "29" "793" "29" "c.793+29A>T" "r.(=)" "p.(=)" "" "0000527080" "00025356" "10" "793" "29" "793" "29" "c.793+29A>T" "r.(=)" "p.(=)" "" "0000527081" "00021770" "30" "793" "27" "793" "27" "c.793+27G>A" "r.(=)" "p.(=)" "" "0000527081" "00025356" "30" "793" "27" "793" "27" "c.793+27G>A" "r.(=)" "p.(=)" "" "0000527082" "00021770" "90" "731" "0" "731" "0" "c.731del" "r.(?)" "p.(Pro244HisfsTer30)" "" "0000527082" "00025356" "90" "731" "0" "731" "0" "c.731del" "r.(?)" "p.(Pro244HisfsTer30)" "" "0000527083" "00021770" "10" "601" "0" "601" "0" "c.601C>G" "r.(?)" "p.(Leu201Val)" "" "0000527083" "00025356" "10" "601" "0" "601" "0" "c.601C>G" "r.(?)" "p.(Leu201Val)" "" "0000527084" "00021770" "10" "601" "0" "601" "0" "c.601C>G" "r.(?)" "p.(Leu201Val)" "" "0000527084" "00025356" "10" "601" "0" "601" "0" "c.601C>G" "r.(?)" "p.(Leu201Val)" "" "0000527085" "00021770" "30" "503" "0" "508" "0" "c.503_508del" "r.(?)" "p.(Glu168_Lys169del)" "" "0000527085" "00025356" "30" "503" "0" "508" "0" "c.503_508del" "r.(?)" "p.(Glu168_Lys169del)" "" "0000527086" "00021770" "10" "503" "0" "508" "0" "c.503_508del" "r.(?)" "p.(Glu168_Lys169del)" "" "0000527086" "00025356" "10" "503" "0" "508" "0" "c.503_508del" "r.(?)" "p.(Glu168_Lys169del)" "" "0000527087" "00021770" "70" "484" "1211" "484" "1211" "c.484+1211A>G" "r.(=)" "p.(=)" "" "0000527087" "00025356" "70" "484" "1211" "484" "1211" "c.484+1211A>G" "r.(=)" "p.(=)" "" "0000527088" "00021770" "30" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(His144Tyr)" "" "0000527088" "00025356" "30" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(His144Tyr)" "" "0000527089" "00021770" "10" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(His144Tyr)" "" "0000527089" "00025356" "10" "430" "0" "430" "0" "c.430C>T" "r.(?)" "p.(His144Tyr)" "" "0000527090" "00021770" "10" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Ile)" "" "0000527090" "00025356" "10" "274" "0" "274" "0" "c.274G>A" "r.(?)" "p.(Val92Ile)" "" "0000527091" "00021770" "50" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Ser80Tyr)" "" "0000527091" "00025356" "50" "239" "0" "239" "0" "c.239C>A" "r.(?)" "p.(Ser80Tyr)" "" "0000527092" "00021770" "10" "233" "-16" "233" "-13" "c.233-16_233-13del" "r.(=)" "p.(=)" "" "0000527092" "00025356" "10" "233" "-16" "233" "-13" "c.233-16_233-13del" "r.(=)" "p.(=)" "" "0000527093" "00021770" "10" "233" "-13" "233" "-13" "c.233-13dup" "r.(=)" "p.(=)" "" "0000527093" "00025356" "10" "233" "-13" "233" "-13" "c.233-13dup" "r.(=)" "p.(=)" "" "0000527094" "00021770" "10" "232" "24" "232" "24" "c.232+24T>C" "r.(=)" "p.(=)" "" "0000527094" "00025356" "10" "232" "24" "232" "24" "c.232+24T>C" "r.(=)" "p.(=)" "" "0000527095" "00021770" "50" "224" "0" "224" "0" "c.224A>T" "r.(?)" "p.(Asn75Ile)" "" "0000527095" "00025356" "50" "224" "0" "224" "0" "c.224A>T" "r.(?)" "p.(Asn75Ile)" "" "0000527096" "00021770" "70" "53" "0" "56" "0" "c.53_56del" "r.(?)" "p.(Asp18AlafsTer14)" "" "0000527096" "00025356" "70" "53" "0" "56" "0" "c.53_56del" "r.(?)" "p.(Asp18AlafsTer14)" "" "0000527097" "00021770" "50" "52" "0" "52" "0" "c.52G>C" "r.(?)" "p.(Asp18His)" "" "0000527097" "00025356" "50" "52" "0" "52" "0" "c.52G>C" "r.(?)" "p.(Asp18His)" "" "0000527098" "00021770" "90" "22" "29" "22" "29" "c.22+29A>G" "r.(=)" "p.(=)" "" "0000527098" "00025356" "90" "22" "29" "22" "29" "c.22+29A>G" "r.(=)" "p.(=)" "" "0000527099" "00021770" "50" "22" "1" "22" "1" "c.22+1G>A" "r.spl?" "p.?" "" "0000527099" "00025356" "50" "22" "1" "22" "1" "c.22+1G>A" "r.spl?" "p.?" "" "0000527100" "00021770" "10" "6" "0" "6" "0" "c.6T>C" "r.(?)" "p.(Thr2=)" "" "0000527100" "00025356" "10" "6" "0" "6" "0" "c.6T>C" "r.(?)" "p.(Thr2=)" "" "0000609966" "00021770" "30" "97989" "0" "97989" "0" "c.*96603T>A" "r.(=)" "p.(=)" "" "0000609966" "00025356" "30" "1871" "-20" "1871" "-20" "c.1871-20T>A" "r.(=)" "p.(=)" "" "0000609967" "00021770" "10" "93311" "0" "93311" "0" "c.*91925C>A" "r.(=)" "p.(=)" "" "0000609967" "00025356" "10" "1831" "12" "1831" "12" "c.1831+12C>A" "r.(=)" "p.(=)" "" "0000609968" "00021770" "10" "93267" "0" "93267" "0" "c.*91881C>T" "r.(=)" "p.(=)" "" "0000609968" "00025356" "10" "1805" "-6" "1805" "-6" "c.1805-6C>T" "r.(=)" "p.(=)" "" "0000609969" "00021770" "30" "93267" "0" "93267" "0" "c.*91881C>A" "r.(=)" "p.(=)" "" "0000609969" "00025356" "30" "1805" "-6" "1805" "-6" "c.1805-6C>A" "r.(=)" "p.(=)" "" "0000609970" "00021770" "10" "93266" "0" "93266" "0" "c.*91880dup" "r.(?)" "p.(=)" "" "0000609970" "00025356" "10" "1805" "-7" "1805" "-7" "c.1805-7dup" "r.(=)" "p.(=)" "" "0000609971" "00021770" "30" "80562" "0" "80562" "0" "c.*79176G>A" "r.(=)" "p.(=)" "" "0000609971" "00025356" "30" "1612" "0" "1612" "0" "c.1612G>A" "r.(?)" "p.(Val538Met)" "" "0000609972" "00021770" "30" "1364" "0" "1364" "0" "c.1364T>C" "r.(?)" "p.(Val455Ala)" "" "0000609972" "00025356" "30" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Val454Ala)" "" "0000609973" "00021770" "30" "1218" "0" "1218" "0" "c.1218A>G" "r.(?)" "p.(Glu406=)" "" "0000609973" "00025356" "30" "1215" "0" "1215" "0" "c.1215A>G" "r.(?)" "p.(Glu405=)" "" "0000609974" "00021770" "30" "550" "3" "550" "3" "c.550+3A>G" "r.spl?" "p.?" "" "0000609974" "00025356" "30" "550" "3" "550" "3" "c.550+3A>G" "r.spl?" "p.?" "" "0000609975" "00021770" "70" "529" "0" "529" "0" "c.529A>T" "r.(?)" "p.(Lys177Ter)" "" "0000609975" "00025356" "70" "529" "0" "529" "0" "c.529A>T" "r.(?)" "p.(Lys177Ter)" "" "0000609976" "00021770" "30" "484" "1195" "484" "1195" "c.484+1195T>C" "r.(=)" "p.(=)" "" "0000609976" "00025356" "30" "484" "1195" "484" "1195" "c.484+1195T>C" "r.(=)" "p.(=)" "" "0000609977" "00021770" "10" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Glu135Lys)" "" "0000609977" "00025356" "10" "403" "0" "403" "0" "c.403G>A" "r.(?)" "p.(Glu135Lys)" "" "0000609978" "00021770" "10" "23" "-19" "23" "-19" "c.23-19T>G" "r.(=)" "p.(=)" "" "0000609978" "00025356" "10" "23" "-19" "23" "-19" "c.23-19T>G" "r.(=)" "p.(=)" "" "0000609979" "00021770" "70" "22" "1" "22" "1" "c.22+1G>T" "r.spl?" "p.?" "" "0000609979" "00025356" "70" "22" "1" "22" "1" "c.22+1G>T" "r.spl?" "p.?" "" "0000621625" "00021770" "50" "793" "22" "793" "22" "c.793+22C>G" "r.(=)" "p.(=)" "" "0000621625" "00025356" "50" "793" "22" "793" "22" "c.793+22C>G" "r.(=)" "p.(=)" "" "0000651825" "00021770" "30" "503" "0" "508" "0" "c.503_508del" "r.(?)" "p.(Glu168_Lys169del)" "" "0000651825" "00025356" "30" "503" "0" "508" "0" "c.503_508del" "r.(?)" "p.(Glu168_Lys169del)" "" "0000655476" "00021770" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Gly225Arg)" "" "0000655476" "00025356" "50" "673" "0" "673" "0" "c.673G>A" "r.(?)" "p.(Gly225Arg)" "" "0000669870" "00025356" "30" "503" "0" "508" "0" "c.503_508del" "r.(?)" "p.(Glu168_Lys169del)" "" "0000677610" "00021770" "30" "82765" "0" "82765" "0" "c.*81379A>C" "r.(=)" "p.(=)" "" "0000677610" "00025356" "30" "1713" "0" "1713" "0" "c.1713A>C" "r.(?)" "p.(Glu571Asp)" "" "0000677611" "00021770" "10" "1276" "16" "1276" "16" "c.1276+16T>G" "r.(=)" "p.(=)" "" "0000677611" "00025356" "10" "1273" "16" "1273" "16" "c.1273+16T>G" "r.(=)" "p.(=)" "" "0000677612" "00021770" "10" "1260" "0" "1260" "0" "c.1260C>A" "r.(?)" "p.(Asp420Glu)" "" "0000677612" "00025356" "10" "1257" "0" "1257" "0" "c.1257C>A" "r.(?)" "p.(Asp419Glu)" "" "0000677613" "00021770" "50" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Lys147Glu)" "" "0000677613" "00025356" "50" "439" "0" "439" "0" "c.439A>G" "r.(?)" "p.(Lys147Glu)" "" "0000677614" "00021770" "50" "224" "0" "224" "0" "c.224A>T" "r.(?)" "p.(Asn75Ile)" "" "0000677614" "00025356" "50" "224" "0" "224" "0" "c.224A>T" "r.(?)" "p.(Asn75Ile)" "" "0000689613" "00021770" "10" "94244" "0" "94245" "0" "c.*92858_*92859del" "r.(=)" "p.(=)" "" "0000689613" "00025356" "10" "1832" "-5" "1832" "-4" "c.1832-5_1832-4del" "r.spl?" "p.?" "" "0000689614" "00021770" "50" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Arg429Ter)" "" "0000689614" "00025356" "50" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Arg428Ter)" "" "0000689615" "00021770" "10" "931" "18" "931" "18" "c.931+18del" "r.(=)" "p.(=)" "" "0000689615" "00025356" "10" "931" "18" "931" "18" "c.931+18del" "r.(=)" "p.(=)" "" "0000709014" "00025356" "70" "1923" "0" "1924" "0" "c.1923_1924del" "r.(?)" "p.(Leu643Serfs*19)" "" "0000720652" "00021770" "10" "84041" "0" "84041" "0" "c.*82655A>G" "r.(=)" "p.(=)" "" "0000720652" "00025356" "10" "1721" "-4" "1721" "-4" "c.1721-4A>G" "r.spl?" "p.?" "" "0000720653" "00021770" "30" "992" "-14" "992" "-14" "c.992-14T>G" "r.(=)" "p.(=)" "" "0000720653" "00025356" "30" "992" "-17" "992" "-17" "c.992-17T>G" "r.(=)" "p.(=)" "" "0000720654" "00021770" "10" "233" "-13" "233" "-13" "c.233-13del" "r.(=)" "p.(=)" "" "0000720654" "00025356" "10" "233" "-13" "233" "-13" "c.233-13del" "r.(=)" "p.(=)" "" "0000720655" "00021770" "10" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Thr42=)" "" "0000720655" "00025356" "10" "126" "0" "126" "0" "c.126G>A" "r.(?)" "p.(Thr42=)" "" "0000802293" "00021770" "50" "135173" "0" "135173" "0" "c.*133787C>T" "r.(=)" "p.(=)" "" "0000802293" "00025356" "50" "2053" "0" "2053" "0" "c.2053C>T" "r.(?)" "p.(Pro685Ser)" "" "0000802294" "00021770" "10" "93266" "0" "93266" "0" "c.*91880dup" "r.(?)" "p.(=)" "" "0000802294" "00025356" "10" "1805" "-7" "1805" "-7" "c.1805-7dup" "r.(=)" "p.(=)" "" "0000851053" "00021770" "50" "98800" "0" "98800" "0" "c.*97414G>C" "r.(=)" "p.(=)" "" "0000851053" "00025356" "50" "1921" "0" "1921" "0" "c.1921G>C" "r.(?)" "p.(Glu641Gln)" "" "0000851054" "00021770" "10" "86197" "0" "86197" "0" "c.*84811A>C" "r.(=)" "p.(=)" "" "0000851054" "00025356" "10" "1776" "0" "1776" "0" "c.1776A>C" "r.(?)" "p.(Ile592=)" "" "0000851055" "00021770" "30" "84041" "0" "84041" "0" "c.*82655A>G" "r.(=)" "p.(=)" "" "0000851055" "00025356" "30" "1721" "-4" "1721" "-4" "c.1721-4A>G" "r.spl?" "p.?" "" "0000851056" "00021770" "30" "80570" "0" "80570" "0" "c.*79184A>G" "r.(=)" "p.(=)" "" "0000851056" "00025356" "30" "1620" "0" "1620" "0" "c.1620A>G" "r.(?)" "p.(Ile540Met)" "" "0000851057" "00021770" "30" "1384" "0" "1385" "0" "c.1384_1385insA" "r.(?)" "p.(*462=)" "" "0000851057" "00025356" "30" "1369" "12" "1369" "13" "c.1369+12_1369+13insA" "r.(=)" "p.(=)" "" "0000851058" "00021770" "10" "1383" "0" "1383" "0" "c.1383A>G" "r.(?)" "p.(Lys461=)" "" "0000851058" "00025356" "10" "1369" "11" "1369" "11" "c.1369+11A>G" "r.(=)" "p.(=)" "" "0000851059" "00021770" "50" "657" "0" "659" "0" "c.657_659del" "r.(?)" "p.(Lys220del)" "" "0000851059" "00025356" "50" "657" "0" "659" "0" "c.657_659del" "r.(?)" "p.(Lys220del)" "" "0000851060" "00021770" "50" "71" "0" "71" "0" "c.71T>A" "r.(?)" "p.(Val24Glu)" "" "0000851060" "00025356" "50" "71" "0" "71" "0" "c.71T>A" "r.(?)" "p.(Val24Glu)" "" "0000887028" "00021770" "10" "80955" "0" "80955" "0" "c.*79569G>T" "r.(=)" "p.(=)" "" "0000887028" "00025356" "10" "1672" "8" "1672" "8" "c.1672+8G>T" "r.(=)" "p.(=)" "" "0000887029" "00021770" "10" "1400" "0" "1400" "0" "c.*14T>C" "r.(=)" "p.(=)" "" "0000887029" "00025356" "10" "1369" "28" "1369" "28" "c.1369+28T>C" "r.(=)" "p.(=)" "" "0000912399" "00021770" "10" "80545" "0" "80545" "0" "c.*79159dup" "r.(?)" "p.(=)" "" "0000912399" "00025356" "10" "1598" "-3" "1598" "-3" "c.1598-3dup" "r.spl?" "p.?" "" "0000912400" "00021770" "10" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Ala367Thr)" "" "0000912400" "00025356" "10" "1096" "0" "1096" "0" "c.1096G>A" "r.(?)" "p.(Ala366Thr)" "" "0000929141" "00021770" "50" "80920" "0" "80920" "0" "c.*79534G>A" "r.(=)" "p.(=)" "" "0000929141" "00025356" "50" "1645" "0" "1645" "0" "c.1645G>A" "r.(?)" "p.(Glu549Lys)" "" "0000929142" "00021770" "50" "79229" "0" "79229" "0" "c.*77843T>C" "r.(=)" "p.(=)" "" "0000929142" "00025356" "50" "1568" "-12" "1568" "-12" "c.1568-12T>C" "r.(=)" "p.(=)" "" "0000929143" "00021770" "50" "1207" "0" "1207" "0" "c.1207A>C" "r.(?)" "p.(Lys403Gln)" "" "0000929143" "00025356" "50" "1204" "0" "1204" "0" "c.1204A>C" "r.(?)" "p.(Lys402Gln)" "" "0000929144" "00021770" "70" "1054" "1" "1054" "1" "c.1054+1G>T" "r.spl?" "p.?" "" "0000929144" "00025356" "70" "1051" "1" "1051" "1" "c.1051+1G>T" "r.spl?" "p.?" "" "0000948637" "00021770" "10" "135325" "0" "135325" "0" "c.*133939C>T" "r.(=)" "p.(=)" "" "0000948637" "00025356" "10" "2205" "0" "2205" "0" "c.*15C>T" "r.(=)" "p.(=)" "" "0000948638" "00021770" "50" "1276" "4" "1276" "4" "c.1276+4T>C" "r.spl?" "p.?" "" "0000948638" "00025356" "50" "1273" "4" "1273" "4" "c.1273+4T>C" "r.spl?" "p.?" "" "0000976952" "00021770" "30" "93267" "0" "93268" "0" "c.*91881_*91882insA" "r.(=)" "p.(=)" "" "0000976952" "00025356" "30" "1805" "-6" "1805" "-5" "c.1805-6_1805-5insA" "r.spl?" "p.?" "" "0000995317" "00021770" "30" "94271" "0" "94271" "0" "c.*92885T>G" "r.(=)" "p.(=)" "" "0000995317" "00025356" "30" "1854" "0" "1854" "0" "c.1854T>G" "r.(?)" "p.(=)" "" "0000995318" "00021770" "10" "84041" "0" "84041" "0" "c.*82655A>T" "r.(=)" "p.(=)" "" "0000995318" "00025356" "10" "1721" "-4" "1721" "-4" "c.1721-4A>T" "r.spl?" "p.?" "" "0000995319" "00021770" "30" "82743" "0" "82743" "0" "c.*81357A>G" "r.(=)" "p.(=)" "" "0000995319" "00025356" "30" "1691" "0" "1691" "0" "c.1691A>G" "r.(?)" "p.(Gln564Arg)" "" "0000995320" "00021770" "50" "82739" "0" "82739" "0" "c.*81353A>G" "r.(=)" "p.(=)" "" "0000995320" "00025356" "50" "1687" "0" "1687" "0" "c.1687A>G" "r.(?)" "p.(Lys563Glu)" "" "0000995321" "00021770" "50" "1276" "4" "1276" "4" "c.1276+4T>C" "r.spl?" "p.?" "" "0000995321" "00025356" "50" "1273" "4" "1273" "4" "c.1273+4T>C" "r.spl?" "p.?" "" "0000995322" "00021770" "10" "485" "-7" "485" "-7" "c.485-7T>C" "r.(=)" "p.(=)" "" "0000995322" "00025356" "10" "485" "-7" "485" "-7" "c.485-7T>C" "r.(=)" "p.(=)" "" "0000995323" "00021770" "10" "233" "-14" "233" "-13" "c.233-14_233-13del" "r.(=)" "p.(=)" "" "0000995323" "00025356" "10" "233" "-14" "233" "-13" "c.233-14_233-13del" "r.(=)" "p.(=)" "" "0001014170" "00021770" "30" "1364" "0" "1364" "0" "c.1364T>C" "r.(?)" "p.(Val455Ala)" "" "0001014170" "00025356" "30" "1361" "0" "1361" "0" "c.1361T>C" "r.(?)" "p.(Val454Ala)" "" "0001035449" "00021770" "10" "80570" "0" "80570" "0" "c.*79184A>G" "r.(=)" "p.(=)" "" "0001035449" "00025356" "10" "1620" "0" "1620" "0" "c.1620A>G" "r.(?)" "p.(Ile540Met)" "" "0001035450" "00021770" "10" "16280" "0" "16280" "0" "c.*14894C>A" "r.(=)" "p.(=)" "" "0001035450" "00025356" "10" "1408" "0" "1408" "0" "c.1408C>A" "r.(?)" "p.(Leu470Met)" "" "0001046051" "00021770" "50" "22030" "0" "22030" "0" "c.*20644A>G" "r.(=)" "p.(=)" "" "0001046051" "00025356" "50" "1469" "0" "1469" "0" "c.1469A>G" "r.(?)" "p.(Lys490Arg)" "" "0001052480" "00021770" "30" "1108" "5" "1108" "5" "c.1108+5G>A" "r.spl?" "p.?" "" "0001052480" "00025356" "30" "1105" "5" "1105" "5" "c.1105+5G>A" "r.spl?" "p.?" "" "0001052481" "00021770" "50" "931" "18" "931" "18" "c.931+18dup" "r.(=)" "p.(=)" "" "0001052481" "00025356" "50" "931" "18" "931" "18" "c.931+18dup" "r.(=)" "p.(=)" "" "0001064641" "00021770" "30" "93268" "0" "93269" "0" "c.*91882_*91883dup" "r.(=)" "p.(=)" "" "0001064641" "00025356" "30" "1805" "-5" "1805" "-4" "c.1805-5_1805-4dup" "r.spl?" "p.?" "" "0001064642" "00021770" "50" "224" "0" "224" "0" "c.224A>T" "r.(?)" "p.(Asn75Ile)" "" "0001064642" "00025356" "50" "224" "0" "224" "0" "c.224A>T" "r.(?)" "p.(Asn75Ile)" "" "0001075846" "00025356" "50" "89" "0" "89" "0" "c.89A>G" "r.(?)" "p.(Lys30Arg)" "" "0001083553" "00025356" "70" "991" "2" "991" "2" "c.991+2T>A" "r.spl" "p.?" "" "0001084168" "00025356" "50" "1673" "-3" "1673" "-3" "c.1673-3C>G" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000081065" "0000130151" "0000211769" "0000443377" "0000211769" "0000443378" "0000211770" "0000443379" "0000211770" "0000443380" "0000211771" "0000443381" "0000211771" "0000443382" "0000295136" "0000651825" "0000306182" "0000669870" "0000325860" "0000709014" "0000479855" "0001075846" "0000485650" "0001083553"