### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ADAM9) # 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}}" "ADAM9" "ADAM metallopeptidase domain 9" "8" "p11.23" "unknown" "NG_016335.1" "UD_132118847749" "" "https://www.LOVD.nl/ADAM9" "" "1" "216" "8754" "602713" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ADAM9_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-07-13 00:00:00" "00006" "2020-08-30 09:42:15" "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}}" "00002069" "ADAM9" "transcript variant 1" "001" "NM_003816.2" "" "NP_003807.1" "" "" "" "-78" "4021" "2460" "38854505" "38962780" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "CORD" "dystrophy, cone-rod (CORD)" "" "" "" "" "" "00006" "2012-09-22 11:31:25" "00006" "2020-08-30 09:43:59" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03188" "CORD9" "dystrophy, cone-rod, type 9 (CORD-9)" "AR" "612775" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" "" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04249" "macular dystrophy" "dystrophy, macular" "" "" "" "" "" "00006" "2015-05-04 22:10:58" "00006" "2024-02-15 21:18:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ADAM9" "00058" "ADAM9" "03188" "ADAM9" "04214" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00155373" "" "" "" "4" "" "01243" "{PMID:Sharon 2019:31456290}" "1 IRD family" "M" "yes" "Israel" "" "0" "" "" "Arab-Muslim" "" "00155374" "" "" "" "2" "" "01243" "{PMID:Sharon 2019:31456290}" "1 IRD family" "F" "yes" "Israel" "" "0" "" "" "African-N;Jewish" "" "00155375" "" "" "" "1" "" "01243" "{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "family" "F" "yes" "Israel" "" "0" "" "" "Iraq;Jewish" "MOL0827-1" "00308930" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309621" "" "" "" "9" "" "00006" "{PMID:Parry 2009:19409519}" "6-generation family, 9 affected (3F, 6M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Brazil" "" "0" "" "" "" "FamBrazil" "00309622" "" "" "" "4" "" "00006" "{PMID:Parry 2009:19409519}" "5-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "MEP49" "00309623" "" "" "" "3" "" "00006" "{PMID:Parry 2009:19409519}" "4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Tunisia" "" "0" "" "" "Jewish" "MOL0172" "00309624" "" "" "" "3" "" "00006" "{PMID:Parry 2009:19409519}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Israel" "" "0" "" "" "Arab Muslim" "MOL0277" "00309625" "" "" "" "3" "" "00006" "{PMID:El-Haig 2014:25091951}" "2-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Egypt" "" "0" "" "" "" "family" "00309626" "" "" "" "1" "" "00006" "{PMID:Hull 2015:25546566}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "patient" "00309627" "" "" "" "1" "" "00006" "{PMID:Kropatsch 2010:20691256}, {PMID:Goldstein 2010:20806078}" "Irish Glen of Imaal Terrier dogs" "" "" "" "" "0" "" "" "" "dog" "00331851" "" "" "" "1" "" "00000" "{PMID:Alsaif 2019:29556725}" "familial" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG1107" "00363738" "" "" "" "1" "" "00000" "{PMID:Patel 2016:26355662}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "13DG1106" "00363844" "" "" "" "1" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "F" "yes" "Israel" "" "0" "" "" "Iraq;Jewish" "" "00363845" "" "" "" "1" "" "01243" "{PMID:Sharon 2019:31456290}" "family" "F" "yes" "Israel" "" "0" "" "" "Iraq;Jewish" "" "00363846" "" "" "" "1" "" "01243" "{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "family" "F" "yes" "Israel" "" "0" "" "" "Iraq;Jewish" "MOL0838" "00375418" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#010" "00377798" "" "" "" "1" "" "00000" "{PMID:Littink 2010:20554613}" "" "" "" "" "" "0" "" "" "" "" "00379808" "" "" "" "1" "" "00000" "{PMID:Wang 2018:30029497}" "" "M" "?" "China" "" "0" "" "" "Han Chinese" "2016090706" "00381058" "" "" "" "1" "" "00000" "{PMID:Fu-2013:23661369}" "" "M" "" "China" "" "0" "" "" "Chinese" "" "00386232" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-427" "00386697" "" "" "" "1" "" "00000" "{PMID:Zampaglione 2020:32037395}" "" "?" "" "" "" "0" "" "" "" "OGI1331_002491" "00407356" "" "" "" "1" "" "00000" "{PMID:Borràs 2013:23534816}" "" "" "" "Spain" "" "0" "" "" "Spanish" "RP-95" "00447073" "" "" "" "2" "" "00006" "{PMID:Weisschuh 2024:37734845}" "family, 2 affected" "M" "" "Germany" "" "0" "" "" "" "CHM-126" "00451132" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "071282" "00451213" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072084" "00451225" "" "" "" "1" "" "00006" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "" "" "0" "" "" "" "072184" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00155373" "04210" "00155374" "04210" "00155375" "04214" "00308930" "04214" "00309621" "04214" "00309622" "04214" "00309623" "04214" "00309624" "04214" "00309625" "04214" "00309626" "04214" "00309627" "04214" "00331851" "04214" "00363738" "04214" "00363844" "04214" "00363845" "04214" "00363846" "04214" "00375418" "04214" "00377798" "04214" "00379808" "04214" "00381058" "04214" "00386232" "04214" "00386697" "04214" "00407356" "04214" "00447073" "00198" "00451132" "04249" "00451213" "04249" "00451225" "04249" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00198, 03188, 04210, 04214, 04249 ## Count = 24 "{{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}}" "0000127873" "04210" "00155373" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000127874" "04210" "00155374" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000127875" "04214" "00155375" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000234250" "04214" "00308930" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "cone–rod dystrophy" "" "0000234941" "04214" "00309621" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000234942" "04214" "00309622" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000234943" "04214" "00309623" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000234944" "04214" "00309624" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000234945" "04214" "00309625" "00006" "Familial, autosomal recessive" "" "see paper; ..., severe cone-rod dystrophy, cataract" "" "" "" "" "" "" "" "" "" "cone-rod dystrophy, cataract" "" "0000234946" "04214" "00309626" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "cone-rod dystrophy" "" "0000234947" "04214" "00309627" "00006" "Familial, autosomal recessive" "" "see paper; .." "" "" "" "" "" "" "" "" "" "generalized progressive retinal atrophy" "" "0000250043" "04214" "00331851" "00000" "Familial, autosomal recessive" "" "primary congenital glaucoma, cone-rod dystrophy" "" "" "" "" "" "" "" "" "" "glaucoma" "" "0000259088" "04214" "00363738" "00000" "Familial" "" "non-syndromic" "" "" "" "" "" "" "" "" "" "cone rod dystrophy" "" "0000259184" "04214" "00363844" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000259185" "04214" "00363845" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000259186" "04214" "00363846" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000270632" "04214" "00375418" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "" "0000272944" "04214" "00377798" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Cone–Rod Dystrophy" "" "0000273662" "04214" "00379808" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa?" "" "0000274909" "04214" "00381058" "00000" "Familial, autosomal recessive" "9y" "-4.50DS-3.25DCX180;4.50DS-3.25DCX180" "" "" "" "" "" "" "" "" "" "autosomal recessive retinitis pigmentosa (RP)" "" "0000280035" "04214" "00386232" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "benign concentric annular macular dystrophy" "" "0000280497" "04214" "00386697" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" "" "0000299710" "04214" "00407356" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "severe autosomal dominant retinitis pigmentosa (adRP)" "" "0000336272" "00198" "00447073" "00006" "Familial, X-linked dominant" "" "" "" "" "" "" "" "" "" "" "" "choroideraemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000156238" "00155373" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156239" "00155374" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000156240" "00155375" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000310075" "00308930" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310766" "00309621" "1" "00006" "00006" "2020-08-30 10:37:10" "" "" "SEQ" "DNA" "" "" "0000310767" "00309622" "1" "00006" "00006" "2020-08-30 10:37:10" "" "" "SEQ" "DNA" "" "" "0000310768" "00309623" "1" "00006" "00006" "2020-08-30 10:37:10" "" "" "SEQ" "DNA" "" "" "0000310769" "00309624" "1" "00006" "00006" "2020-08-30 10:37:10" "" "" "SEQ" "DNA" "" "" "0000310770" "00309625" "1" "00006" "00006" "2020-08-30 10:37:10" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000310771" "00309626" "1" "00006" "00006" "2020-08-30 10:37:10" "" "" "SEQ" "DNA" "" "" "0000310772" "00309627" "1" "00006" "00006" "2020-08-30 10:40:12" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000333070" "00331851" "1" "00000" "00006" "2021-02-13 14:27:40" "" "" "SEQ" "DNA" "" "" "0000364966" "00363738" "1" "00000" "00006" "2021-04-29 16:11:05" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000365072" "00363844" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000365073" "00363845" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000365074" "00363846" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000376615" "00375418" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES" "0000379002" "00377798" "1" "00000" "00008" "2021-08-02 20:37:33" "" "" "SEQ" "DNA" "" "" "0000381010" "00379808" "1" "00000" "03840" "2021-08-10 08:08:19" "" "" "SEQ-NG" "DNA" "" "panel of 441 hereditary eye disease genes including 291 genes related to IRD" "0000382272" "00381058" "1" "00000" "00008" "2021-08-25 12:56:54" "" "" "SEQ-NG" "DNA" "blood" "" "0000387461" "00386232" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000387925" "00386697" "1" "00000" "03840" "2021-10-26 11:33:19" "" "" "SEQ-NG-I;SEQ" "DNA" "blood" "" "0000408604" "00407356" "1" "00000" "00008" "2022-04-06 13:32:24" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000448650" "00447073" "1" "00006" "00006" "2024-01-26 09:49:02" "" "" "SEQ-NG" "DNA" "" "WGS" "0000452731" "00451132" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452812" "00451213" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" "0000452824" "00451225" "1" "00006" "00006" "2024-05-31 11:39:36" "" "" "SEQ" "DNA" "" "smMIP-based 105 iMD/AMD genes" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 22 "{{screeningid}}" "{{geneid}}" "0000156238" "ADAM9" "0000156239" "ADAM9" "0000156240" "ADAM9" "0000310075" "ADAM9" "0000310766" "ADAM9" "0000310767" "ADAM9" "0000310768" "ADAM9" "0000310769" "ADAM9" "0000310770" "ADAM9" "0000310771" "ADAM9" "0000310772" "ADAM9" "0000333070" "ADAM9" "0000364966" "ADAM9" "0000365072" "ADAM9" "0000365073" "ADAM9" "0000365074" "ADAM9" "0000379002" "ADAM9" "0000381010" "ADAM9" "0000382272" "ADAM9" "0000387461" "ADAM9" "0000387925" "ADAM9" "0000408604" "SLC1A7" ## 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 = 73 "{{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}}" "0000257315" "0" "30" "8" "38913215" "38913215" "subst" "9.35606E-5" "02330" "ADAM9_000008" "g.38913215C>T" "" "" "" "ADAM9(NM_003816.3):c.1515C>T (p.C505=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39055696C>T" "" "likely benign" "" "0000257318" "0" "10" "8" "38947588" "38947588" "subst" "0.000341156" "02330" "ADAM9_000013" "g.38947588C>T" "" "" "" "ADAM9(NM_003816.2):c.2091C>T (p.D697=), ADAM9(NM_003816.3):c.2091C>T (p.D697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39090069C>T" "" "benign" "" "0000257319" "0" "10" "8" "38947721" "38947721" "subst" "0.00227042" "02330" "ADAM9_000014" "g.38947721T>C" "" "" "" "ADAM9(NM_003816.3):c.2210+14T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39090202T>C" "" "benign" "" "0000257321" "0" "10" "8" "38880800" "38880800" "subst" "0" "02330" "ADAM9_000003" "g.38880800G>A" "" "" "" "ADAM9(NM_003816.3):c.870G>A (p.K290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023281G>A" "" "benign" "" "0000257322" "0" "30" "8" "38880804" "38880804" "subst" "0" "02330" "ADAM9_000004" "g.38880804C>T" "" "" "" "ADAM9(NM_003816.3):c.874C>T (p.L292F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023285C>T" "" "likely benign" "" "0000257323" "0" "10" "8" "38880817" "38880817" "subst" "0.00137345" "02330" "ADAM9_000005" "g.38880817G>A" "" "" "" "ADAM9(NM_003816.3):c.887G>A (p.R296Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023298G>A" "" "benign" "" "0000257324" "0" "10" "8" "38880852" "38880852" "subst" "0.00572394" "02330" "ADAM9_000006" "g.38880852T>A" "" "" "" "ADAM9(NM_003816.2):c.914+8T>A, ADAM9(NM_003816.3):c.914+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023333T>A" "" "benign" "" "0000261949" "0" "30" "8" "38940157" "38940157" "subst" "0" "01943" "ADAM9_000011" "g.38940157C>T" "" "" "" "ADAM9(NM_003816.2):c.1882-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39082638C>T" "" "likely benign" "" "0000261950" "0" "30" "8" "38947562" "38947562" "subst" "0.000312754" "01943" "ADAM9_000012" "g.38947562C>A" "" "" "" "ADAM9(NM_003816.2):c.2069-4C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39090043C>A" "" "likely benign" "" "0000261951" "0" "10" "8" "38869207" "38869207" "subst" "0.00653003" "01943" "ADAM9_000001" "g.38869207G>A" "" "" "" "ADAM9(NM_003816.2):c.226G>A (p.E76K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39011688G>A" "" "benign" "" "0000261952" "0" "30" "8" "38880852" "38880852" "subst" "0.00572394" "01943" "ADAM9_000006" "g.38880852T>A" "" "" "" "ADAM9(NM_003816.2):c.914+8T>A, ADAM9(NM_003816.3):c.914+8T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39023333T>A" "" "likely benign" "" "0000332108" "0" "30" "8" "38871509" "38871509" "subst" "0.00210072" "01804" "ADAM9_000002" "g.38871509G>A" "" "" "" "ADAM9(NM_003816.2):c.280G>A (p.V94I, p.(Val94Ile)), ADAM9(NM_003816.3):c.280G>A (p.V94I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39013990G>A" "" "likely benign" "" "0000332109" "0" "50" "8" "38959433" "38959433" "subst" "0" "01804" "ADAM9_000016" "g.38959433C>T" "" "" "" "ADAM9(NM_003816.2):c.2350C>T (p.(Gln784Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39101914C>T" "" "VUS" "" "0000339946" "0" "10" "8" "38884270" "38884270" "subst" "0.00736315" "02327" "ADAM9_000017" "g.38884270C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39026751C>T" "" "benign" "" "0000344401" "0" "90" "8" "38913138" "38913138" "del" "0" "02327" "ADAM9_000018" "g.38913138del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.39055619del" "" "pathogenic" "" "0000358160" "3" "90" "8" "38874730" "38874730" "subst" "0" "01243" "ADAM9_000019" "g.38874730A>G" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.39017211A>G" "" "pathogenic" "" "0000358161" "3" "90" "8" "38874817" "38874817" "subst" "0" "01243" "ADAM9_000020" "g.38874817C>T" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.39017298C>T" "" "pathogenic" "" "0000358162" "3" "90" "8" "38884286" "38884286" "subst" "0" "01243" "ADAM9_000021" "g.38884286T>A" "4/2420 IRD families" "{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.39026767T>A" "" "pathogenic" "" "0000534758" "0" "10" "8" "38871509" "38871509" "subst" "0.00210072" "02330" "ADAM9_000002" "g.38871509G>A" "" "" "" "ADAM9(NM_003816.2):c.280G>A (p.V94I, p.(Val94Ile)), ADAM9(NM_003816.3):c.280G>A (p.V94I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39013990G>A" "" "benign" "" "0000534759" "0" "50" "8" "38871509" "38871509" "subst" "0.00210072" "01943" "ADAM9_000002" "g.38871509G>A" "" "" "" "ADAM9(NM_003816.2):c.280G>A (p.V94I, p.(Val94Ile)), ADAM9(NM_003816.3):c.280G>A (p.V94I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39013990G>A" "" "VUS" "" "0000534760" "0" "30" "8" "38876354" "38876354" "subst" "0.000121845" "02330" "ADAM9_000022" "g.38876354T>C" "" "" "" "ADAM9(NM_003816.3):c.607-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39018835T>C" "" "likely benign" "" "0000534761" "0" "10" "8" "38876457" "38876457" "subst" "3.65735E-5" "02330" "ADAM9_000023" "g.38876457T>G" "" "" "" "ADAM9(NM_003816.3):c.672+20T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39018938T>G" "" "benign" "" "0000534762" "0" "30" "8" "38883316" "38883316" "subst" "1.62514E-5" "01943" "ADAM9_000024" "g.38883316A>G" "" "" "" "ADAM9(NM_003816.2):c.915-6A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39025797A>G" "" "likely benign" "" "0000534763" "0" "10" "8" "38884337" "38884337" "subst" "7.9434E-5" "02330" "ADAM9_000025" "g.38884337C>G" "" "" "" "ADAM9(NM_003816.3):c.1130+8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39026818C>G" "" "benign" "" "0000534764" "0" "10" "8" "38884344" "38884347" "dup" "0" "02325" "ADAM9_000026" "g.38884344_38884347dup" "" "" "" "ADAM9(NM_003816.3):c.1130+15_1130+18dupTCTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39026825_39026828dup" "" "benign" "" "0000534765" "0" "10" "8" "38928937" "38928937" "subst" "0.000816901" "02330" "ADAM9_000027" "g.38928937G>A" "" "" "" "ADAM9(NM_003816.3):c.1697+15G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39071418G>A" "" "benign" "" "0000534766" "0" "10" "8" "38934777" "38934777" "subst" "0.00222197" "01943" "ADAM9_000028" "g.38934777G>A" "" "" "" "ADAM9(NM_003816.2):c.1728G>A (p.E576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39077258G>A" "" "benign" "" "0000534768" "0" "50" "8" "38940170" "38940170" "subst" "8.15727E-5" "01943" "ADAM9_000029" "g.38940170A>G" "" "" "" "ADAM9(NM_003816.2):c.1892A>G (p.N631S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39082651A>G" "" "VUS" "" "0000534769" "0" "50" "8" "38947642" "38947642" "subst" "0" "02330" "ADAM9_000030" "g.38947642T>A" "" "" "" "ADAM9(NM_003816.2):c.2145T>A (p.F715L), ADAM9(NM_003816.3):c.2145T>A (p.F715L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39090123T>A" "" "VUS" "" "0000534770" "0" "10" "8" "38959366" "38959366" "subst" "0" "02330" "ADAM9_000031" "g.38959366T>A" "" "" "" "ADAM9(NM_003816.3):c.2299-16T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39101847T>A" "" "benign" "" "0000534771" "0" "30" "8" "38959374" "38959374" "subst" "0" "01943" "ADAM9_000032" "g.38959374C>T" "" "" "" "ADAM9(NM_003816.2):c.2299-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39101855C>T" "" "likely benign" "" "0000534773" "0" "50" "8" "38961159" "38961159" "subst" "0.000134006" "01943" "ADAM9_000033" "g.38961159G>T" "" "" "" "ADAM9(NM_003816.2):c.2400G>T (p.Q800H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39103640G>T" "" "VUS" "" "0000611613" "0" "30" "8" "38874867" "38874867" "subst" "2.84419E-5" "02330" "ADAM9_000034" "g.38874867G>A" "" "" "" "ADAM9(NM_003816.3):c.540G>A (p.K180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.39017348G>A" "" "likely benign" "" "0000684986" "0" "90" "8" "38913155" "38913155" "subst" "0" "00004" "ADAM9_000040" "g.38913155C>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685744" "3" "90" "8" "38884330" "38884330" "subst" "0" "00006" "ADAM9_000038" "g.38884330G>A" "" "{PMID:Parry 2009:19409519}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39026811G>A" "" "pathogenic (recessive)" "" "0000685745" "3" "90" "8" "38880696" "38880696" "subst" "8.12374E-6" "00006" "ADAM9_000036" "g.38880696C>T" "" "{PMID:Parry 2009:19409519}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39023177C>T" "" "pathogenic (recessive)" "" "0000685746" "3" "90" "8" "38874817" "38874817" "subst" "0" "00006" "ADAM9_000020" "g.38874817C>T" "" "{PMID:Parry 2009:19409519}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39017298C>T" "" "pathogenic (recessive)" "" "0000685747" "3" "90" "8" "38874730" "38874730" "subst" "0" "00006" "ADAM9_000019" "g.38874730A>G" "" "{PMID:Parry 2009:19409519}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39017211A>G" "" "pathogenic (recessive)" "" "0000685748" "3" "90" "8" "38913094" "38913094" "subst" "0" "00006" "ADAM9_000039" "g.38913094A>G" "" "{PMID:El-Haig 2014:25091951}" "" "" "" "Germline" "yes" "" "0" "" "" "g.39055575A>G" "" "pathogenic (recessive)" "" "0000685749" "3" "90" "8" "38883374" "38883374" "del" "0" "00006" "ADAM9_000037" "g.38883374del" "" "{PMID:Hull 2015:25546566}" "" "967delT" "" "Germline" "" "" "0" "" "" "g.39025855del" "" "pathogenic (recessive)" "" "0000685750" "3" "90" "8" "38928816" "38934931" "del" "0" "00006" "ADAM9_000035" "g.(38913292_38928816)_(38934931_38940159)del" "" "{PMID:Kropatsch 2010:20691256}, {PMID:Goldstein 2010:20806078}" "" "" "variant found in dogs" "animal model" "yes" "" "0" "" "" "" "" "pathogenic (!)" "" "0000690262" "0" "50" "8" "38874910" "38874910" "subst" "6.10049E-5" "01943" "ADAM9_000041" "g.38874910C>G" "" "" "" "ADAM9(NM_003816.2):c.583C>G (p.P195A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690263" "0" "50" "8" "38947698" "38947698" "subst" "4.06329E-6" "01943" "ADAM9_000042" "g.38947698A>T" "" "" "" "ADAM9(NM_003816.2):c.2201A>T (p.Q734L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690264" "0" "30" "8" "38947707" "38947707" "subst" "4.07541E-6" "01943" "ADAM9_000043" "g.38947707A>C" "" "" "" "ADAM9(NM_003816.2):c.2210A>C (p.E737A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721978" "0" "50" "8" "38871509" "38871509" "subst" "0.00210072" "02327" "ADAM9_000002" "g.38871509G>A" "" "" "" "ADAM9(NM_003816.2):c.280G>A (p.V94I, p.(Val94Ile)), ADAM9(NM_003816.3):c.280G>A (p.V94I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721979" "0" "70" "8" "38940485" "38940485" "subst" "0" "02330" "ADAM9_000044" "g.38940485A>C" "" "" "" "ADAM9(NM_003816.3):c.1963-2A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721980" "0" "90" "8" "38947669" "38947669" "subst" "0" "02327" "ADAM9_000045" "g.38947669G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000730484" "3" "90" "8" "38884330" "38884330" "subst" "0" "00000" "ADAM9_000038" "g.38884330G>A" "" "{PMID:Alsaif 2019:29556725}" "" "" "" "Germline" "" "" "0" "" "" "g.39026811G>A" "" "pathogenic (recessive)" "" "0000765908" "0" "70" "8" "38884330" "38884330" "subst" "0" "00000" "ADAM9_000038" "g.38884330G>A" "" "{PMID:Patel 2016:26355662}" "" "" "" "Germline" "" "" "0" "" "" "g.39026811G>A" "" "likely pathogenic" "" "0000766024" "3" "90" "8" "38884286" "38884286" "subst" "0" "01243" "ADAM9_000021" "g.38884286T>A" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.39026767T>A" "" "pathogenic (recessive)" "" "0000766025" "3" "90" "8" "38884286" "38884286" "subst" "0" "01243" "ADAM9_000021" "g.38884286T>A" "4/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.39026767T>A" "" "pathogenic (recessive)" "" "0000766026" "3" "90" "8" "38884286" "38884286" "subst" "0" "01243" "ADAM9_000021" "g.38884286T>A" "4/2420 IRD families" "{PMID:Sharon 2015:26261414}, {PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.39026767T>A" "" "pathogenic (recessive)" "" "0000788405" "0" "50" "8" "38947643" "38947643" "subst" "4.06118E-6" "00000" "ADAM9_000046" "g.38947643A>G" "" "{PMID:Katagiri 2014:25268133}" "" "A2146G" "" "Germline" "" "" "0" "" "" "g.39090124A>G" "" "VUS" "" "0000792022" "3" "30" "8" "38961159" "38961159" "subst" "0.000134006" "00000" "ADAM9_000033" "g.38961159G>T" "" "{PMID:Littink 2010:20554613}" "" "c.2400G>T" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000794278" "0" "90" "8" "38871519" "38871519" "dup" "0" "00000" "ADAM9_000047" "g.38871519dup" "" "{PMID:Wang 2018:30029497}" "" "NM_003816.2:c.290dup, NP_003807.1:p.(Tyr97Ter), NC_000008.10:g.38871519dup" "" "Germline" "?" "" "0" "" "" "g.39014000dup" "" "pathogenic" "ACMG" "0000794279" "0" "90" "8" "38884320" "38884320" "subst" "0" "00000" "ADAM9_000048" "g.38884320C>G" "" "{PMID:Wang 2018:30029497}" "" "NM_003816.2:c.1121C>G, NP_003807.1:p.(Ser374Ter), NC_000008.10:g.38884320C>G" "" "Germline" "?" "" "0" "" "" "g.39026801C>G" "" "pathogenic" "ACMG" "0000796016" "3" "70" "8" "38934835" "38934835" "subst" "0" "00000" "ADAM9_000049" "g.38934835C>T" "" "{PMID:Fu-2013:23661369}" "" "c.1786C>T" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000803636" "0" "30" "8" "38913310" "38913310" "subst" "0" "02330" "ADAM9_000050" "g.38913310T>C" "" "" "" "ADAM9(NM_003816.3):c.1591+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803637" "0" "30" "8" "38947588" "38947588" "subst" "0.000341156" "01943" "ADAM9_000013" "g.38947588C>T" "" "" "" "ADAM9(NM_003816.2):c.2091C>T (p.D697=), ADAM9(NM_003816.3):c.2091C>T (p.D697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815345" "0" "50" "8" "38912024" "38912024" "subst" "4.06583E-6" "00000" "ADAM9_000051" "g.38912024G>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "ADAM9:NM_003816 c.G1327A, p.E443K" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.39054505G>A" "" "VUS" "ACMG" "0000816083" "0" "50" "8" "38880799" "38880800" "ins" "0" "00000" "ADAM9_000052" "g.38880799_38880800insAAT" "" "{PMID:Zampaglione 2020:32037395}" "" "ADAM9 c.869_870insAAT, p.Lys290_Phe291insMet" "heterozygous" "Unknown" "?" "" "0" "" "" "g.39023280_39023281insAAT" "" "VUS" "" "0000816412" "0" "50" "8" "38880800" "38880800" "subst" "0" "00000" "ADAM9_000053" "g.38880800G>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.870G>T, p.Lys290Asn" "heterozygous" "Unknown" "?" "" "0" "" "" "g.39023281G>T" "" "VUS" "" "0000816413" "0" "50" "8" "38880804" "38880804" "subst" "0" "00000" "ADAM9_000004" "g.38880804C>T" "" "{PMID:Zampaglione 2020:32037395}" "" "c.874C>T, p.Leu292Phe" "heterozygous" "Unknown" "?" "" "0" "" "" "g.39023285C>T" "" "VUS" "" "0000845525" "0" "50" "8" "38871509" "38871509" "subst" "0.00210072" "00000" "ADAM9_000002" "g.38871509G>A" "0.003" "{PMID:Borràs 2013:23534816}" "" "c.280G>A" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000851919" "0" "30" "8" "38884324" "38884324" "subst" "0" "01943" "ADAM9_000055" "g.38884324A>G" "" "" "" "ADAM9(NM_003816.2):c.1125A>G (p.G375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851920" "0" "30" "8" "38912059" "38912059" "subst" "0.000109784" "02330" "ADAM9_000056" "g.38912059G>A" "" "" "" "ADAM9(NM_003816.3):c.1362G>A (p.E454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851921" "0" "50" "8" "38947642" "38947642" "subst" "0" "01943" "ADAM9_000030" "g.38947642T>A" "" "" "" "ADAM9(NM_003816.2):c.2145T>A (p.F715L), ADAM9(NM_003816.3):c.2145T>A (p.F715L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861207" "0" "30" "8" "38884276" "38884276" "subst" "3.24894E-5" "01943" "ADAM9_000054" "g.38884276T>C" "" "" "" "ADAM9(NM_003816.2):c.1077T>C (p.D359=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888345" "0" "30" "8" "38876353" "38876353" "subst" "0.000101542" "02330" "ADAM9_000057" "g.38876353A>G" "" "" "" "ADAM9(NM_003816.3):c.607-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000958491" "0" "70" "8" "38948812" "38948812" "subst" "0" "00006" "ADAM9_000058" "g.38948812C>T" "" "{PMID:Weisschuh 2024:37734845}" "" "" "ACMG PM2, PVS1" "Germline" "" "" "0" "" "" "g.39091293C>T" "" "likely pathogenic (recessive)" "ACMG" "0000987157" "0" "90" "8" "38913120" "38913120" "subst" "0" "00006" "ADAM9_000060" "g.38913120C>T" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.39055601C>T" "" "pathogenic" "ACMG" "0000987169" "0" "70" "8" "38884286" "38884286" "subst" "0" "00006" "ADAM9_000021" "g.38884286T>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "case unsolved" "Germline" "" "" "0" "" "" "g.39026767T>A" "" "likely pathogenic" "ACMG" "0000987313" "0" "70" "8" "38911999" "38913292" "del" "0" "00006" "ADAM9_000059" "g.(38899637_38911999)_(38913292_38928816)del" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "no variant 2nd chromosome, case unsolved" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG" ## 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 ADAM9 ## Count = 73 "{{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}}" "0000257315" "00002069" "30" "1515" "0" "1515" "0" "c.1515C>T" "r.(?)" "p.(Cys505=)" "" "0000257318" "00002069" "10" "2091" "0" "2091" "0" "c.2091C>T" "r.(?)" "p.(Asp697=)" "" "0000257319" "00002069" "10" "2210" "14" "2210" "14" "c.2210+14T>C" "r.(=)" "p.(=)" "" "0000257321" "00002069" "10" "870" "0" "870" "0" "c.870G>A" "r.(?)" "p.(Lys290=)" "" "0000257322" "00002069" "30" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Leu292Phe)" "" "0000257323" "00002069" "10" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Arg296Gln)" "" "0000257324" "00002069" "10" "914" "8" "914" "8" "c.914+8T>A" "r.(=)" "p.(=)" "" "0000261949" "00002069" "30" "1882" "-3" "1882" "-3" "c.1882-3C>T" "r.spl?" "p.?" "" "0000261950" "00002069" "30" "2069" "-4" "2069" "-4" "c.2069-4C>A" "r.spl?" "p.?" "" "0000261951" "00002069" "10" "226" "0" "226" "0" "c.226G>A" "r.(?)" "p.(Glu76Lys)" "" "0000261952" "00002069" "30" "914" "8" "914" "8" "c.914+8T>A" "r.(=)" "p.(=)" "" "0000332108" "00002069" "30" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Val94Ile)" "" "0000332109" "00002069" "50" "2350" "0" "2350" "0" "c.2350C>T" "r.(?)" "p.(Gln784Ter)" "" "0000339946" "00002069" "10" "1071" "0" "1071" "0" "c.1071C>T" "r.(?)" "p.(His357=)" "" "0000344401" "00002069" "90" "1438" "0" "1438" "0" "c.1438del" "r.(?)" "p.(Cys480ValfsTer64)" "" "0000358160" "00002069" "90" "411" "-8" "411" "-8" "c.411-8A>G" "r.spl?" "p.(?)" "5i" "0000358161" "00002069" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164*)" "6" "0000358162" "00002069" "90" "1087" "0" "1087" "0" "c.1087T>A" "r.(?)" "p.(Cys363Ser)" "11" "0000534758" "00002069" "10" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Val94Ile)" "" "0000534759" "00002069" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Val94Ile)" "" "0000534760" "00002069" "30" "607" "-18" "607" "-18" "c.607-18T>C" "r.(=)" "p.(=)" "" "0000534761" "00002069" "10" "672" "20" "672" "20" "c.672+20T>G" "r.(=)" "p.(=)" "" "0000534762" "00002069" "30" "915" "-6" "915" "-6" "c.915-6A>G" "r.(=)" "p.(=)" "" "0000534763" "00002069" "10" "1130" "8" "1130" "8" "c.1130+8C>G" "r.(=)" "p.(=)" "" "0000534764" "00002069" "10" "1130" "15" "1130" "18" "c.1130+15_1130+18dup" "r.(=)" "p.(=)" "" "0000534765" "00002069" "10" "1697" "15" "1697" "15" "c.1697+15G>A" "r.(=)" "p.(=)" "" "0000534766" "00002069" "10" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Glu576=)" "" "0000534768" "00002069" "50" "1892" "0" "1892" "0" "c.1892A>G" "r.(?)" "p.(Asn631Ser)" "" "0000534769" "00002069" "50" "2145" "0" "2145" "0" "c.2145T>A" "r.(?)" "p.(Phe715Leu)" "" "0000534770" "00002069" "10" "2299" "-16" "2299" "-16" "c.2299-16T>A" "r.(=)" "p.(=)" "" "0000534771" "00002069" "30" "2299" "-8" "2299" "-8" "c.2299-8C>T" "r.(=)" "p.(=)" "" "0000534773" "00002069" "50" "2400" "0" "2400" "0" "c.2400G>T" "r.(?)" "p.(Gln800His)" "" "0000611613" "00002069" "30" "540" "0" "540" "0" "c.540G>A" "r.(?)" "p.(Lys180=)" "" "0000684986" "00002069" "90" "1455" "0" "1455" "0" "c.1455C>A" "r.(?)" "p.(Tyr485*)" "" "0000685744" "00002069" "90" "1130" "1" "1130" "1" "c.1130+1G>A" "r.spl" "p.?" "" "0000685745" "00002069" "90" "766" "0" "766" "0" "c.766C>T" "r.(?)" "p.(Arg256*)" "" "0000685746" "00002069" "90" "490" "0" "490" "0" "c.490C>T" "r.(?)" "p.(Arg164*)" "" "0000685747" "00002069" "90" "411" "-8" "411" "-8" "c.411-8A>G" "r.410_411inscauucag" "p.Arg137Serfs*16" "5i" "0000685748" "00002069" "90" "1396" "-2" "1396" "-2" "c.1396-2A>G" "r.spl" "p.?" "13i" "0000685749" "00002069" "90" "967" "0" "967" "0" "c.967del" "r.(?)" "p.(Ser323Glnfs*33)" "" "0000685750" "00002069" "90" "1592" "-1" "1881" "1" "c.(1591+1_1592-1)_(1881+1_1882-1)del" "r.(1592_1881del)" "p.(Lys531Asnfs*3)" "14i_16i" "0000690262" "00002069" "50" "583" "0" "583" "0" "c.583C>G" "r.(?)" "p.(Pro195Ala)" "" "0000690263" "00002069" "50" "2201" "0" "2201" "0" "c.2201A>T" "r.(?)" "p.(Gln734Leu)" "" "0000690264" "00002069" "30" "2210" "0" "2210" "0" "c.2210A>C" "r.(?)" "p.(Glu737Ala)" "" "0000721978" "00002069" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Val94Ile)" "" "0000721979" "00002069" "70" "1963" "-2" "1963" "-2" "c.1963-2A>C" "r.spl?" "p.?" "" "0000721980" "00002069" "90" "2172" "0" "2172" "0" "c.2172G>A" "r.(?)" "p.(Trp724*)" "" "0000730484" "00002069" "90" "1130" "1" "1130" "1" "c.1130+1G>A" "r.spl" "p.?" "" "0000765908" "00002069" "70" "1130" "1" "1130" "1" "c.1130+1G>A" "r.spl" "p.?" "" "0000766024" "00002069" "90" "1087" "0" "1087" "0" "c.1087T>A" "r.(?)" "p.(Cys363Ser)" "11" "0000766025" "00002069" "90" "1087" "0" "1087" "0" "c.1087T>A" "r.(?)" "p.(Cys363Ser)" "11" "0000766026" "00002069" "90" "1087" "0" "1087" "0" "c.1087T>A" "r.(?)" "p.(Cys363Ser)" "11" "0000788405" "00002069" "50" "2146" "0" "2146" "0" "c.2146A>G" "r.(?)" "p.(Ile716Val)" "19" "0000792022" "00002069" "30" "2400" "0" "2400" "0" "c.2400G>T" "r.(?)" "p.(Gln800His)" "22" "0000794278" "00002069" "90" "290" "0" "290" "0" "c.290dup" "r.(?)" "p.(Tyr97*)" "4" "0000794279" "00002069" "90" "1121" "0" "1121" "0" "c.1121C>G" "r.(?)" "p.(Ser374*)" "11" "0000796016" "00002069" "70" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596*)" "16" "0000803636" "00002069" "30" "1591" "19" "1591" "19" "c.1591+19T>C" "r.(=)" "p.(=)" "" "0000803637" "00002069" "30" "2091" "0" "2091" "0" "c.2091C>T" "r.(?)" "p.(Asp697=)" "" "0000815345" "00002069" "50" "1327" "0" "1327" "0" "c.1327G>A" "r.(?)" "p.(Glu443Lys)" "" "0000816083" "00002069" "50" "869" "0" "870" "0" "c.869_870insAAT" "r.(?)" "p.(Lys290_Phe291insMet)" "" "0000816412" "00002069" "50" "870" "0" "870" "0" "c.870G>T" "r.(?)" "p.(Lys290Asn)" "" "0000816413" "00002069" "50" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Leu292Phe)" "" "0000845525" "00002069" "50" "280" "0" "280" "0" "c.280G>A" "r.(?)" "p.(Val94Ile)" "4" "0000851919" "00002069" "30" "1125" "0" "1125" "0" "c.1125A>G" "r.(?)" "p.(Gly375=)" "" "0000851920" "00002069" "30" "1362" "0" "1362" "0" "c.1362G>A" "r.(?)" "p.(Glu454=)" "" "0000851921" "00002069" "50" "2145" "0" "2145" "0" "c.2145T>A" "r.(?)" "p.(Phe715Leu)" "" "0000861207" "00002069" "30" "1077" "0" "1077" "0" "c.1077T>C" "r.(?)" "p.(Asp359=)" "" "0000888345" "00002069" "30" "607" "-19" "607" "-19" "c.607-19A>G" "r.(=)" "p.(=)" "" "0000958491" "00002069" "70" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Gln749Ter)" "" "0000987157" "00002069" "90" "1420" "0" "1420" "0" "c.1420C>T" "r.(?)" "p.(Arg474Ter)" "" "0000987169" "00002069" "70" "1087" "0" "1087" "0" "c.1087T>A" "r.(?)" "p.(Cys363Ser)" "" "0000987313" "00002069" "70" "1303" "-1" "1591" "1" "c.(1302+1_1303-1)_(1591+1_1592-1)del" "r.?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 30 "{{screeningid}}" "{{variantid}}" "0000156238" "0000358160" "0000156239" "0000358161" "0000156240" "0000358162" "0000310075" "0000684986" "0000310766" "0000685744" "0000310767" "0000685745" "0000310768" "0000685746" "0000310769" "0000685747" "0000310770" "0000685748" "0000310771" "0000685749" "0000310772" "0000685750" "0000333070" "0000730484" "0000364966" "0000765908" "0000365072" "0000766024" "0000365073" "0000766025" "0000365074" "0000766026" "0000376615" "0000788405" "0000379002" "0000792022" "0000381010" "0000794278" "0000381010" "0000794279" "0000382272" "0000796016" "0000387461" "0000815345" "0000387925" "0000816083" "0000387925" "0000816412" "0000387925" "0000816413" "0000408604" "0000845525" "0000448650" "0000958491" "0000452731" "0000987313" "0000452812" "0000987157" "0000452824" "0000987169"