### 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" "2025-07-08 13:22:38" ## 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 = 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}}" "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" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00080953" "03951" "00210693" "01597" "00210694" "01597" "00210695" "01597" "00293968" "00198" "00305053" "00198" "00315502" "05166" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01597, 02523, 03951, 05166 ## 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}}" "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" "" "" "" "" "" "" "" "" "" "" "" ## 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}}" "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" "" "" ## 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 = 165 "{{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.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" "" ## 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 = 320 "{{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)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{variantid}}" "0000081065" "0000130151" "0000211769" "0000443377" "0000211769" "0000443378" "0000211770" "0000443379" "0000211770" "0000443380" "0000211771" "0000443381" "0000211771" "0000443382" "0000295136" "0000651825" "0000306182" "0000669870" "0000325860" "0000709014"