### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADAM17) # 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}}" "ADAM17" "ADAM metallopeptidase domain 17" "2" "p25" "unknown" "NG_029873.1" "UD_132084396050" "" "https://www.LOVD.nl/ADAM17" "" "1" "195" "6868" "603639" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ADAM17_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-06-21 10:42:28" "00000" "2025-02-07 18:57:27" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00002074" "ADAM17" "ADAM metallopeptidase domain 17" "001" "NM_003183.4" "" "NP_003174.3" "" "" "" "-183" "3389" "2475" "9695917" "9629392" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03607" "NISBD1" "Inflammatory skin and bowel disease, neonatal" "AR" "614328" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ADAM17" "03607" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00165004" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00292851" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292852" "" "" "" "76" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00165004" "00091" "00292851" "00198" "00292852" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00091, 00198, 03607 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000165874" "00165004" "1" "02509" "02509" "2018-06-20 15:35:16" "" "" "SEQ-NG-I" "DNA" "" "" "0000294019" "00292851" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294020" "00292852" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 47 "{{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}}" "0000248520" "0" "10" "2" "9634856" "9634856" "subst" "0.500264" "02325" "ADAM17_000003" "g.9634856A>G" "" "" "" "ADAM17(NM_003183.6):c.1824T>C (p.S608=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9494727A>G" "" "benign" "" "0000259628" "0" "50" "2" "9658085" "9658085" "subst" "2.09137E-5" "02325" "ADAM17_000004" "g.9658085T>C" "" "" "" "ADAM17(NM_003183.6):c.1136A>G (p.Y379C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9517956T>C" "" "VUS" "" "0000260597" "0" "30" "2" "9633092" "9633092" "subst" "0.00872562" "02326" "ADAM17_000002" "g.9633092C>T" "" "" "" "ADAM17(NM_003183.6):c.2017G>A (p.V673I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9492963C>T" "" "likely benign" "" "0000260598" "0" "30" "2" "9668050" "9668050" "subst" "0.000767894" "02326" "ADAM17_000007" "g.9668050T>C" "" "" "" "ADAM17(NM_003183.6):c.484A>G (p.K162E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9527921T>C" "" "likely benign" "" "0000260599" "0" "10" "2" "9658409" "9658410" "del" "0" "02326" "ADAM17_000005" "g.9658409_9658410del" "" "" "" "ADAM17(NM_003183.6):c.958-14_958-13delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9518280_9518281del" "" "benign" "" "0000260600" "0" "10" "2" "9658410" "9658410" "del" "0" "02326" "ADAM17_000006" "g.9658410del" "" "" "" "ADAM17(NM_003183.6):c.958-13delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9518281del" "" "benign" "" "0000261946" "0" "30" "2" "9683364" "9683364" "subst" "0.00377554" "01943" "ADAM17_000009" "g.9683364T>C" "" "" "" "ADAM17(NM_003183.6):c.148A>G (p.I50V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9543235T>C" "" "likely benign" "" "0000261947" "0" "10" "2" "9630435" "9630435" "subst" "0.00297237" "01943" "ADAM17_000001" "g.9630435G>A" "" "" "" "ADAM17(NM_003183.6):c.2346C>T (p.F782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9490306G>A" "" "benign" "" "0000261948" "0" "30" "2" "9695654" "9695654" "subst" "0.00105243" "01943" "ADAM17_000010" "g.9695654G>A" "" "" "" "ADAM17(NM_003183.6):c.81C>T (p.G27=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9555525G>A" "" "likely benign" "" "0000343201" "0" "90" "2" "9633939" "9633939" "subst" "8.13061E-6" "02327" "ADAM17_000011" "g.9633939G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9493810G>A" "" "pathogenic" "" "0000346156" "0" "50" "2" "9637377" "9637377" "subst" "8.1316E-6" "02327" "ADAM17_000012" "g.9637377C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.9497248C>T" "" "VUS" "" "0000369651" "0" "90" "2" "9645428" "9645428" "subst" "4.06098E-6" "02509" "ADAM17_000013" "g.9645428G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.9505299G>A" "" "pathogenic" "" "0000517121" "0" "30" "2" "9630501" "9630501" "subst" "9.74683E-5" "01943" "ADAM17_000015" "g.9630501G>A" "" "" "" "ADAM17(NM_003183.6):c.2280C>T (p.D760=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9490372G>A" "" "likely benign" "" "0000517122" "0" "30" "2" "9630576" "9630576" "subst" "8.12519E-5" "01943" "ADAM17_000016" "g.9630576A>C" "" "" "" "ADAM17(NM_003183.6):c.2205T>G (p.T735=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9490447A>C" "" "likely benign" "" "0000517123" "0" "30" "2" "9630658" "9630658" "subst" "0.00143662" "02326" "ADAM17_000017" "g.9630658A>G" "" "" "" "ADAM17(NM_003183.6):c.2134-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9490529A>G" "" "likely benign" "" "0000517124" "0" "30" "2" "9630661" "9630661" "subst" "0.00337024" "02326" "ADAM17_000018" "g.9630661G>A" "" "" "" "ADAM17(NM_003183.6):c.2134-14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9490532G>A" "" "likely benign" "" "0000517129" "0" "50" "2" "9666240" "9666240" "subst" "0" "02327" "ADAM17_000019" "g.9666240T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9526111T>A" "" "VUS" "" "0000517132" "0" "30" "2" "9683364" "9683364" "subst" "0.00377554" "02325" "ADAM17_000009" "g.9683364T>C" "" "" "" "ADAM17(NM_003183.6):c.148A>G (p.I50V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9543235T>C" "" "likely benign" "" "0000517133" "0" "30" "2" "9683364" "9683364" "subst" "0.00377554" "02326" "ADAM17_000009" "g.9683364T>C" "" "" "" "ADAM17(NM_003183.6):c.148A>G (p.I50V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9543235T>C" "" "likely benign" "" "0000517134" "0" "50" "2" "9683369" "9683369" "subst" "1.23888E-5" "02325" "ADAM17_000020" "g.9683369G>A" "" "" "" "ADAM17(NM_003183.6):c.143C>T (p.S48F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9543240G>A" "" "VUS" "" "0000608153" "0" "50" "2" "9630413" "9630413" "subst" "0" "02325" "ADAM17_000021" "g.9630413T>C" "" "" "" "ADAM17(NM_003183.6):c.2368A>G (p.K790E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9490284T>C" "" "VUS" "" "0000608154" "0" "90" "2" "9645428" "9645428" "subst" "4.06098E-6" "01943" "ADAM17_000013" "g.9645428G>A" "" "" "" "ADAM17(NM_003183.6):c.1411C>T (p.Q471*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9505299G>A" "" "pathogenic" "" "0000608155" "0" "30" "2" "9663444" "9663444" "subst" "2.44095E-5" "01943" "ADAM17_000022" "g.9663444A>G" "" "" "" "ADAM17(NM_003183.6):c.777T>C (p.D259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9523315A>G" "" "likely benign" "" "0000650708" "1" "10" "2" "9633092" "9633092" "subst" "0.00872562" "03575" "ADAM17_000002" "g.9633092C>T" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs61754177}" "Germline" "" "rs61754177" "0" "" "" "g.9492963C>T" "" "benign" "" "0000650709" "1" "10" "2" "9637331" "9637331" "subst" "0.013593" "03575" "ADAM17_000023" "g.9637331A>G" "76/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "76 heterozygous, no homozygous; {DB:CLININrs56237316}" "Germline" "" "rs56237316" "0" "" "" "g.9497202A>G" "" "benign" "" "0000654740" "0" "30" "2" "9675978" "9675978" "subst" "0.00108048" "02326" "ADAM17_000024" "g.9675978G>C" "" "" "" "ADAM17(NM_003183.6):c.435C>G (p.A145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.9535849G>C" "" "likely benign" "" "0000688873" "0" "10" "2" "9658410" "9658410" "dup" "0" "02326" "ADAM17_000025" "g.9658410dup" "" "" "" "ADAM17(NM_003183.6):c.958-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000688874" "0" "50" "2" "9661394" "9661394" "subst" "0" "02325" "ADAM17_000026" "g.9661394T>G" "" "" "" "ADAM17(NM_003183.6):c.895A>C (p.N299H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688875" "0" "50" "2" "9667942" "9667942" "subst" "0" "02325" "ADAM17_000027" "g.9667942C>A" "" "" "" "ADAM17(NM_003183.6):c.592G>T (p.G198W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719092" "0" "30" "2" "9658381" "9658381" "subst" "0" "01943" "ADAM17_000028" "g.9658381G>T" "" "" "" "ADAM17(NM_003183.6):c.958-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800847" "0" "30" "2" "9630536" "9630536" "subst" "0" "02326" "ADAM17_000029" "g.9630536G>A" "" "" "" "ADAM17(NM_003183.6):c.2245C>T (p.P749S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800848" "0" "30" "2" "9645345" "9645345" "subst" "2.8428E-5" "01943" "ADAM17_000030" "g.9645345G>A" "" "" "" "ADAM17(NM_003183.6):c.1494C>T (p.N498=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850065" "0" "30" "2" "9630435" "9630435" "subst" "0.00297237" "02326" "ADAM17_000001" "g.9630435G>A" "" "" "" "ADAM17(NM_003183.6):c.2346C>T (p.F782=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000850066" "0" "50" "2" "9658262" "9658262" "subst" "0" "01943" "ADAM17_000033" "g.9658262C>G" "" "" "" "ADAM17(NM_003183.6):c.1072G>C (p.A358P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850067" "0" "30" "2" "9675978" "9675978" "subst" "0.00108048" "01943" "ADAM17_000024" "g.9675978G>C" "" "" "" "ADAM17(NM_003183.6):c.435C>G (p.A145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858723" "0" "90" "2" "9630608" "9630609" "ins" "1.22178E-5" "01943" "ADAM17_000031" "g.9630608_9630609insT" "" "" "" "ADAM17(NM_003183.6):c.2172_2173insA (p.R725Tfs*54)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858724" "0" "30" "2" "9650126" "9650126" "subst" "4.06375E-6" "01943" "ADAM17_000032" "g.9650126G>A" "" "" "" "ADAM17(NM_003183.6):c.1326C>T (p.G442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885434" "0" "30" "2" "9642414" "9642416" "del" "0" "02326" "ADAM17_000034" "g.9642414_9642416del" "" "" "" "ADAM17(NM_003183.6):c.1545-7_1545-5delTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885435" "0" "30" "2" "9676070" "9676070" "subst" "6.51582E-5" "02326" "ADAM17_000035" "g.9676070T>A" "" "" "" "ADAM17(NM_003183.6):c.362-19A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911787" "0" "30" "2" "9658406" "9658410" "del" "0" "02326" "ADAM17_000036" "g.9658406_9658410del" "" "" "" "ADAM17(NM_003183.6):c.958-17_958-13delTTTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923793" "0" "30" "2" "9668103" "9668103" "subst" "0.000308773" "02326" "ADAM17_000037" "g.9668103C>T" "" "" "" "ADAM17(NM_003183.6):c.451-20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928663" "0" "30" "2" "9658130" "9658130" "subst" "3.09332E-5" "02326" "ADAM17_000038" "g.9658130A>G" "" "" "" "ADAM17(NM_003183.6):c.1103-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928664" "0" "30" "2" "9663444" "9663444" "subst" "2.44095E-5" "02326" "ADAM17_000022" "g.9663444A>G" "" "" "" "ADAM17(NM_003183.6):c.777T>C (p.D259=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975458" "0" "30" "2" "9633899" "9633899" "subst" "0.000146256" "01804" "ADAM17_000039" "g.9633899T>C" "" "" "" "ADAM17(NM_003183.6):c.1970A>G (p.(Asp657Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975459" "0" "10" "2" "9658408" "9658410" "del" "0" "02326" "ADAM17_000040" "g.9658408_9658410del" "" "" "" "ADAM17(NM_003183.6):c.958-15_958-13delTTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001024687" "0" "50" "2" "9633031" "9633031" "subst" "7.82015E-5" "02325" "ADAM17_000041" "g.9633031C>T" "" "" "" "ADAM17(NM_003183.6):c.2078G>A (p.C693Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024688" "0" "30" "2" "9658381" "9658381" "subst" "0" "02325" "ADAM17_000028" "g.9658381G>T" "" "" "" "ADAM17(NM_003183.6):c.958-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ADAM17 ## Count = 47 "{{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}}" "0000248520" "00002074" "10" "1824" "0" "1824" "0" "c.1824T>C" "r.(?)" "p.(Ser608=)" "" "0000259628" "00002074" "50" "1136" "0" "1136" "0" "c.1136A>G" "r.(?)" "p.(Tyr379Cys)" "" "0000260597" "00002074" "30" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Val673Ile)" "" "0000260598" "00002074" "30" "484" "0" "484" "0" "c.484A>G" "r.(?)" "p.(Lys162Glu)" "" "0000260599" "00002074" "10" "958" "-14" "958" "-13" "c.958-14_958-13del" "r.(=)" "p.(=)" "" "0000260600" "00002074" "10" "958" "-13" "958" "-13" "c.958-13del" "r.(=)" "p.(=)" "" "0000261946" "00002074" "30" "148" "0" "148" "0" "c.148A>G" "r.(?)" "p.(Ile50Val)" "" "0000261947" "00002074" "10" "2346" "0" "2346" "0" "c.2346C>T" "r.(?)" "p.(Phe782=)" "" "0000261948" "00002074" "30" "81" "0" "81" "0" "c.81C>T" "r.(?)" "p.(Gly27=)" "" "0000343201" "00002074" "90" "1930" "0" "1930" "0" "c.1930C>T" "r.(?)" "p.(Arg644Ter)" "" "0000346156" "00002074" "50" "1649" "0" "1649" "0" "c.1649G>A" "r.(?)" "p.(Gly550Asp)" "" "0000369651" "00002074" "90" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Gln471*)" "" "0000517121" "00002074" "30" "2280" "0" "2280" "0" "c.2280C>T" "r.(?)" "p.(Asp760=)" "" "0000517122" "00002074" "30" "2205" "0" "2205" "0" "c.2205T>G" "r.(?)" "p.(Thr735=)" "" "0000517123" "00002074" "30" "2134" "-11" "2134" "-11" "c.2134-11T>C" "r.(=)" "p.(=)" "" "0000517124" "00002074" "30" "2134" "-14" "2134" "-14" "c.2134-14C>T" "r.(=)" "p.(=)" "" "0000517129" "00002074" "50" "753" "0" "753" "0" "c.753A>T" "r.(?)" "p.(Leu251Phe)" "" "0000517132" "00002074" "30" "148" "0" "148" "0" "c.148A>G" "r.(?)" "p.(Ile50Val)" "" "0000517133" "00002074" "30" "148" "0" "148" "0" "c.148A>G" "r.(?)" "p.(Ile50Val)" "" "0000517134" "00002074" "50" "143" "0" "143" "0" "c.143C>T" "r.(?)" "p.(Ser48Phe)" "" "0000608153" "00002074" "50" "2368" "0" "2368" "0" "c.2368A>G" "r.(?)" "p.(Lys790Glu)" "" "0000608154" "00002074" "90" "1411" "0" "1411" "0" "c.1411C>T" "r.(?)" "p.(Gln471Ter)" "" "0000608155" "00002074" "30" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(Asp259=)" "" "0000650708" "00002074" "10" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Val673Ile)" "" "0000650709" "00002074" "10" "1695" "0" "1695" "0" "c.1695T>C" "r.(=)" "p.(=)" "" "0000654740" "00002074" "30" "435" "0" "435" "0" "c.435C>G" "r.(?)" "p.(Ala145=)" "" "0000688873" "00002074" "10" "958" "-13" "958" "-13" "c.958-13dup" "r.(=)" "p.(=)" "" "0000688874" "00002074" "50" "895" "0" "895" "0" "c.895A>C" "r.(?)" "p.(Asn299His)" "" "0000688875" "00002074" "50" "592" "0" "592" "0" "c.592G>T" "r.(?)" "p.(Gly198Trp)" "" "0000719092" "00002074" "30" "958" "-5" "958" "-5" "c.958-5C>A" "r.spl?" "p.?" "" "0000800847" "00002074" "30" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Pro749Ser)" "" "0000800848" "00002074" "30" "1494" "0" "1494" "0" "c.1494C>T" "r.(?)" "p.(Asn498=)" "" "0000850065" "00002074" "30" "2346" "0" "2346" "0" "c.2346C>T" "r.(?)" "p.(Phe782=)" "" "0000850066" "00002074" "50" "1072" "0" "1072" "0" "c.1072G>C" "r.(?)" "p.(Ala358Pro)" "" "0000850067" "00002074" "30" "435" "0" "435" "0" "c.435C>G" "r.(?)" "p.(Ala145=)" "" "0000858723" "00002074" "90" "2172" "0" "2173" "0" "c.2172_2173insA" "r.(?)" "p.(Arg725Thrfs*54)" "" "0000858724" "00002074" "30" "1326" "0" "1326" "0" "c.1326C>T" "r.(?)" "p.(Gly442=)" "" "0000885434" "00002074" "30" "1545" "-7" "1545" "-5" "c.1545-7_1545-5del" "r.spl?" "p.?" "" "0000885435" "00002074" "30" "362" "-19" "362" "-19" "c.362-19A>T" "r.(=)" "p.(=)" "" "0000911787" "00002074" "30" "958" "-17" "958" "-13" "c.958-17_958-13del" "r.(=)" "p.(=)" "" "0000923793" "00002074" "30" "451" "-20" "451" "-20" "c.451-20G>A" "r.(=)" "p.(=)" "" "0000928663" "00002074" "30" "1103" "-12" "1103" "-12" "c.1103-12T>C" "r.(=)" "p.(=)" "" "0000928664" "00002074" "30" "777" "0" "777" "0" "c.777T>C" "r.(?)" "p.(Asp259=)" "" "0000975458" "00002074" "30" "1970" "0" "1970" "0" "c.1970A>G" "r.(?)" "p.(Asp657Gly)" "" "0000975459" "00002074" "10" "958" "-15" "958" "-13" "c.958-15_958-13del" "r.(=)" "p.(=)" "" "0001024687" "00002074" "50" "2078" "0" "2078" "0" "c.2078G>A" "r.(?)" "p.(Cys693Tyr)" "" "0001024688" "00002074" "30" "958" "-5" "958" "-5" "c.958-5C>A" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000165874" "0000369651" "0000294019" "0000650708" "0000294020" "0000650709"