### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CDH3)
# 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}}"
"CDH3" "cadherin 3, type 1, P-cadherin (placental)" "16" "q22.1" "unknown" "NG_009096.1" "UD_132085235489" "" "https://www.LOVD.nl/CDH3" "" "1" "1762" "1001" "114021" "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/CDH3_codingDNA.html" "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." "-1" "" "-1" "00000" "2012-07-06 00:00:00" "00006" "2020-11-13 09:12:57" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00001544" "CDH3" "cadherin 3, type 1, P-cadherin (placental)" "001" "NM_001793.4" "" "NP_001784.2" "" "" "" "-1132" "3144" "2490" "68678151" "68732957" "00000" "2012-09-13 13:39:18" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01767" "EEMS" "dysplasia, ectodermal, ectrodactyly, and macular dystrophy (EEMS)" "AR" "225280" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-13 09:14:30"
"02376" "HJMD" "hypotrichosis, congenital, with juvenile macular dystrophy (HJMD)" "AR" "601553" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"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"
"05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"CDH3" "01767"
"CDH3" "02376"
## Individuals ## Do not remove or alter this header ##
## Count = 33
"{{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}}"
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00155402" "" "" "" "3" "" "01243" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "M" "no" "Israel" "" "0" "" "" "Druze" "MOL1145"
"00296031" "" "" "" "1" "" "00006" "{PMID:Blanco-Kelly 2017:28061825}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Spain" "" "0" "" "" "" "patient"
"00309017" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309018" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309019" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00309020" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" ""
"00328248" "" "" "" "1" "" "00000" "{PMID:Carss 2017:28041643}" "" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Europe" "G008993"
"00331349" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "14DG0186 , 14DG0187"
"00331350" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "family" "M" "yes" "" "" "0" "" "" "Arab" "12DG1777, 12DG2033"
"00331979" "" "" "" "1" "" "00000" "{PMID:Birtel 2018:29555955}" "patient" "M" "" "Germany" "" "0" "" "" "" "Pat116"
"00335095" "" "" "" "1" "" "00000" "{PMID:Haer-Wigman 2017:28224992}" "patient" "" "no" "Netherlands" "" "0" "" "" "" "8326"
"00382510" "" "" "" "1" "" "00000" "{PMID:Jespersgaar 2019:30718709}" "" "?" "" "Denmark" "" "0" "" "" "" "372"
"00383412" "" "" "" "1" "" "00000" "{PMID:Khan 2019:31725702}" "" "M" "" "" "" "0" "" "" "" ""
"00384031" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-1777"
"00385107" "" "" "" "1" "" "00000" "{PMID:Schauren 2020:31696509}" "Family #1" "F" "" "Brazil" "" "0" "" "" "" "IV:3"
"00385108" "" "" "" "1" "" "00000" "{PMID:Schauren 2020:31696509}" "Family #1" "M" "" "Brazil" "" "0" "" "" "" "IV:4"
"00385109" "" "" "" "1" "" "00000" "{PMID:Schauren 2020:31696509}" "Family #1" "F" "" "Brazil" "" "0" "" "" "" "IV:5"
"00385110" "" "" "" "1" "" "00000" "{PMID:Schauren 2020:31696509}" "Family #1" "M" "" "Brazil" "" "0" "" "" "" "IV:6"
"00385111" "" "" "" "1" "" "00000" "{PMID:Schauren 2020:31696509}" "Family #2" "F" "" "Brazil" "" "0" "" "" "" "III:1"
"00385112" "" "" "" "1" "" "00000" "{PMID:Schauren 2020:31696509}" "Family #2" "F" "" "Brazil" "" "0" "" "" "" "III:2"
"00385113" "" "" "" "1" "" "00000" "{PMID:Schauren 2020:31696509}" "Family #3" "M" "" "Brazil" "" "0" "" "" "" "III:10"
"00385114" "" "" "" "1" "" "00000" "{PMID:Schauren 2020:31696509}" "Family #3" "M" "" "Brazil" "" "0" "" "" "" "III:11"
"00386223" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-179, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-379"
"00386280" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-71, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-188"
"00386287" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-AP, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-461"
"00388495" "" "" "" "1" "" "00000" "{PMID:Ellingsford 2018:29074561}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "14021329"
"00389501" "" "" "" "1" "" "00000" "{PMID:Weisschuh 2020:32531858}" "Filing key number: 305, Stargardt Disease, no patient Ids, consecutive numbers given" "M" "" "Germany" "" "0" "" "" "" "785"
"00390199" "" "" "" "1" "" "00000" "{PMID:Turro 2020:32581362}" "only individuals with mutations in retinal disease genes from this publication were inserted into LOVD" "?" "" "" "" "0" "" "" "" "G008993"
"00393332" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-050"
"00393333" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "M" "?" "China" "" "0" "" "" "" "RP-053"
"00393334" "" "" "" "1" "" "00000" "{PMID:Ng 2021:33846575}" "" "F" "?" "China" "" "0" "" "" "" "RP-113"
"00450733" "" "" "" "1" "" "04405" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "F" "" "" "" "0" "" "" "" "070565"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 33
"{{individualid}}" "{{diseaseid}}"
"00000209" "01157"
"00155402" "04214"
"00296031" "00198"
"00309017" "04214"
"00309018" "04214"
"00309019" "04214"
"00309020" "04214"
"00328248" "04214"
"00331349" "05517"
"00331350" "05517"
"00331979" "04214"
"00335095" "00198"
"00382510" "04214"
"00383412" "04214"
"00384031" "04214"
"00385107" "04214"
"00385108" "04214"
"00385109" "04214"
"00385110" "04214"
"00385111" "04214"
"00385112" "04214"
"00385113" "04214"
"00385114" "04214"
"00386223" "04214"
"00386280" "04214"
"00386287" "04214"
"00388495" "04214"
"00389501" "04214"
"00390199" "04214"
"00393332" "04214"
"00393333" "04214"
"00393334" "04214"
"00450733" "04249"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01157, 01767, 02376, 04214, 04249, 05517
## Count = 33
"{{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}}"
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000127902" "04214" "00155402" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000223498" "00198" "00296031" "00006" "Familial, autosomal recessive" "15y" "see paper; initial diagnosis keratosis follicularis spinulosa decalvans and retinitis pigmentosa inversa; 1y-absence growing hair, pale skin, sparse scalp hair, punctiform follicular keratosis on cheeks, forehead, eyebrows and anterior surface arms and posterior surface legs, erythema with follicular hyperkeratosis and reduction hair density eyebrows; skin biopsy reduction number scalp follicles, absence seborrheic glands, infundibular cyst with keratin granules; 2y-retinal alteration, ..." "01y" "" "" "" "" "" "" "" "HJMD" "keratosis follicularis spinulosa decalvans and retinitis pigmentosa inversa" ""
"0000234337" "04214" "00309017" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypotrichosis with juvenile macular dystrophy" ""
"0000234338" "04214" "00309018" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypotrichosis with juvenile macular dystrophy" ""
"0000234339" "04214" "00309019" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hypotrichosis with juvenile macular dystrophy" ""
"0000234340" "04214" "00309020" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000246475" "04214" "00328248" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "macular dystrophy" ""
"0000249541" "05517" "00331349" "00000" "Familial, autosomal recessive" "" "Ectrodactyly, Macular dystrophy" "" "" "" "" "" "" "" "" "Ectrodactyly with/without other manifestations" "skeletal dysplasia" ""
"0000249542" "05517" "00331350" "00000" "Familial, autosomal recessive" "" "Rod-cone dystrophy, Abnormal facial shape, Ectrodactyly" "" "" "" "" "" "" "" "" "Ectrodactyly with/without other manifestations" "skeletal dysplasia" ""
"0000250170" "04214" "00331979" "00000" "Familial, autosomal dominant" "18y" "reduced visual acuity; scotopic ERG normal; photopic ERG borderline" "17y" "" "reduced visual acuity" "" "" "" "" "" "" "macular dystrophy or cone-rod dystrophy" ""
"0000252810" "00198" "00335095" "00000" "Unknown" "" "2y-diagnosis visual impairment" "" "" "" "" "" "" "" "" "" "retinal dystrophy, strabismus" ""
"0000276359" "04214" "00382510" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000277197" "04214" "00383412" "00000" "Familial, autosomal recessive" "" "" "0y" "" "" "" "" "" "" "" "" "Macular dystrophy and hypotrichosis" ""
"0000277816" "04214" "00384031" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000278889" "04214" "00385107" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hypotrichosis and Juvenile Macular Dystrophy" "Hypotrichosis and Juvenile Macular Dystrophy" ""
"0000278890" "04214" "00385108" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hypotrichosis and Juvenile Macular Dystrophy" "Hypotrichosis and Juvenile Macular Dystrophy" ""
"0000278891" "04214" "00385109" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hypotrichosis and Juvenile Macular Dystrophy" "Hypotrichosis and Juvenile Macular Dystrophy" ""
"0000278892" "04214" "00385110" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hypotrichosis and Juvenile Macular Dystrophy" "Hypotrichosis and Juvenile Macular Dystrophy" ""
"0000278893" "04214" "00385111" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hypotrichosis and Juvenile Macular Dystrophy" "Hypotrichosis and Juvenile Macular Dystrophy" ""
"0000278894" "04214" "00385112" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hypotrichosis and Juvenile Macular Dystrophy" "Hypotrichosis and Juvenile Macular Dystrophy" ""
"0000278895" "04214" "00385113" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hypotrichosis and Juvenile Macular Dystrophy" "Hypotrichosis and Juvenile Macular Dystrophy" ""
"0000278896" "04214" "00385114" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "Hypotrichosis and Juvenile Macular Dystrophy" "Hypotrichosis and Juvenile Macular Dystrophy" ""
"0000280026" "04214" "00386223" "00000" "Familial, autosomal recessive" "11y" "" "" "10y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000280083" "04214" "00386280" "00000" "Familial, autosomal recessive" "48y" "" "" "5y" "" "" "" "" "" "" "early onset retinitis pigmentosa" "" ""
"0000280090" "04214" "00386287" "00000" "Familial, autosomal dominant" "54y" "" "" "33y" "" "" "" "" "" "" "retinitis pigmentosa" "autosomal recessive retinitis pigmentosa" ""
"0000282047" "04214" "00388495" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000283042" "04214" "00389501" "00000" "Familial, autosomal recessive" "9y" "age at genetic diagnosis mentioned" "" "5y" "" "" "" "" "" "" "Stargardt Disease" "" ""
"0000283737" "04214" "00390199" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "retinal disease" ""
"0000286573" "04214" "00393332" "00000" "Isolated (sporadic)" "41y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286574" "04214" "00393333" "00000" "Isolated (sporadic)" "63y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000286575" "04214" "00393334" "00000" "Isolated (sporadic)" "41y" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" "retinitis pigmentosa" ""
"0000339788" "04249" "00450733" "04405" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Stargardt disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 33
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000156267" "00155402" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" ""
"0000297201" "00296031" "1" "00006" "00006" "2020-04-03 10:14:20" "00006" "2020-04-03 10:25:05" "MLPA;SEQ" "DNA" "" "MLPA for ABCA4"
"0000310162" "00309017" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310163" "00309018" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310164" "00309019" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000310165" "00309020" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" ""
"0000329463" "00328248" "1" "00000" "00006" "2021-01-27 12:09:59" "" "" "SEQ-NG" "DNA" "" "WGS"
"0000332568" "00331349" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000332569" "00331350" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000333198" "00331979" "1" "00000" "00006" "2021-02-14 10:12:05" "" "" "SEQ-NG" "DNA" "" ""
"0000336324" "00335095" "1" "00000" "00006" "2021-03-04 11:06:46" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000383724" "00382510" "1" "00000" "03840" "2021-09-09 12:39:39" "" "" "SEQ-NG-I" "DNA" "blood" "125 genes associated with inherited retinal disorders, see paper supplemental data"
"0000384637" "00383412" "1" "00000" "03840" "2021-09-29 09:58:40" "" "" "?" "DNA" "" "retrospective study"
"0000385256" "00384031" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000386336" "00385107" "1" "00000" "03840" "2021-10-07 11:34:54" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing"
"0000386337" "00385108" "1" "00000" "03840" "2021-10-07 11:34:54" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing"
"0000386338" "00385109" "1" "00000" "03840" "2021-10-07 11:34:54" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing"
"0000386339" "00385110" "1" "00000" "03840" "2021-10-07 11:34:54" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing"
"0000386340" "00385111" "1" "00000" "03840" "2021-10-07 11:34:54" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing"
"0000386341" "00385112" "1" "00000" "03840" "2021-10-07 11:34:54" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing"
"0000386342" "00385113" "1" "00000" "03840" "2021-10-07 11:34:54" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing"
"0000386343" "00385114" "1" "00000" "03840" "2021-10-07 11:34:54" "" "" "SEQ-NG" "DNA" "" "whole exome sequencing"
"0000387452" "00386223" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387509" "00386280" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387516" "00386287" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000389736" "00388495" "1" "00000" "00008" "2021-11-04 08:27:28" "" "" "SEQ-NG" "DNA" "" "CNV gene panel next-generation sequencing"
"0000390744" "00389501" "1" "00000" "03840" "2021-11-08 10:11:04" "" "" "SEQ-NG" "DNA" "blood" "RET6 targeted sequencing panel - see paper"
"0000391440" "00390199" "1" "00000" "03840" "2021-11-10 12:02:36" "" "" "SEQ-NG-I" "DNA" "blood" "whole genome sequencing"
"0000394580" "00393332" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394581" "00393333" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000394582" "00393334" "1" "00000" "03840" "2021-11-29 11:52:56" "" "" "SEQ" "DNA" "blood" "whole exome sequencing"
"0000452331" "00450733" "1" "04405" "00006" "2024-03-27 11:47:00" "" "" "SEQ;SEQ-NG" "DNA" "" "smMIP-based 105 iMD/AMD genes"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 32
"{{screeningid}}" "{{geneid}}"
"0000156267" "CDH3"
"0000297201" "ABCA4"
"0000297201" "CDH3"
"0000310162" "CDH3"
"0000310163" "CDH3"
"0000310164" "CDH3"
"0000310165" "CDH3"
"0000329463" "CDH3"
"0000332568" "CDH3"
"0000332569" "CDH3"
"0000333198" "CDH3"
"0000336324" "CDH3"
"0000383724" "CDH3"
"0000384637" "CDH3"
"0000385256" "RDH12"
"0000386336" "CDH3"
"0000386337" "CDH3"
"0000386338" "CDH3"
"0000386339" "CDH3"
"0000386340" "CDH3"
"0000386341" "CDH3"
"0000386342" "CDH3"
"0000386343" "CDH3"
"0000387452" "ABCA4"
"0000387509" "RDH12"
"0000387516" "ROM1"
"0000389736" "CDH3"
"0000390744" "CDH3"
"0000391440" "CDH3"
"0000394580" "CDH3"
"0000394581" "CDH3"
"0000394582" "CDH3"
## 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 = 120
"{{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}}"
"0000013590" "3" "50" "16" "68730855" "68730855" "subst" "0" "00037" "CDH3_000001" "g.68730855C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68696952C>G" "" "VUS" ""
"0000013591" "3" "50" "16" "68731047" "68731047" "subst" "0" "00037" "CDH3_000002" "g.68731047A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.68697144A>G" "" "VUS" ""
"0000247364" "0" "30" "16" "68713815" "68713815" "subst" "0.00407287" "02330" "CDH3_000006" "g.68713815A>C" "" "" "" "CDH3(NM_001317195.1):c.805A>C (p.M269L, p.(Met269Leu)), CDH3(NM_001317196.2):c.640A>C (p.M214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68679912A>C" "" "likely benign" ""
"0000254181" "0" "30" "16" "68713815" "68713815" "subst" "0.00407287" "01943" "CDH3_000006" "g.68713815A>C" "" "" "" "CDH3(NM_001317195.1):c.805A>C (p.M269L, p.(Met269Leu)), CDH3(NM_001317196.2):c.640A>C (p.M214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68679912A>C" "" "likely benign" ""
"0000264467" "0" "10" "16" "68718642" "68718642" "subst" "8.12117E-5" "02330" "CDH3_000009" "g.68718642G>A" "" "" "" "CDH3(NM_001793.6):c.1339G>A (p.V447I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68684739G>A" "" "benign" ""
"0000264468" "0" "30" "16" "68719119" "68719119" "subst" "0.00139723" "02330" "CDH3_000010" "g.68719119T>C" "" "" "" "CDH3(NM_001317195.1):c.1436T>C (p.L479P, p.(Leu479Pro)), CDH3(NM_001793.6):c.1436T>C (p.L479P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68685216T>C" "" "likely benign" ""
"0000264469" "0" "30" "16" "68721525" "68721525" "subst" "0.00132782" "02330" "CDH3_000014" "g.68721525G>A" "" "" "" "CDH3(NM_001317195.1):c.1681G>A (p.V561M), CDH3(NM_001793.6):c.1681G>A (p.V561M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68687622G>A" "" "likely benign" ""
"0000264470" "0" "10" "16" "68729213" "68729213" "subst" "0.000824479" "02330" "CDH3_000016" "g.68729213C>T" "" "" "" "CDH3(NM_001793.5):c.2058C>T (p.P686=), CDH3(NM_001793.6):c.2058C>T (p.P686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68695310C>T" "" "benign" ""
"0000264471" "0" "10" "16" "68712457" "68712457" "subst" "4.06233E-6" "02330" "CDH3_000005" "g.68712457G>A" "" "" "" "CDH3(NM_001793.6):c.444G>A (p.P148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68678554G>A" "" "benign" ""
"0000264472" "0" "10" "16" "68715012" "68715012" "subst" "0.00125412" "02330" "CDH3_000008" "g.68715012C>T" "" "" "" "CDH3(NM_001793.6):c.996+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68681109C>T" "" "benign" ""
"0000272978" "0" "30" "16" "68719183" "68719183" "subst" "0.0022172" "01943" "CDH3_000011" "g.68719183C>T" "" "" "" "CDH3(NM_001317195.1):c.1500C>T (p.T500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68685280C>T" "" "likely benign" ""
"0000272979" "0" "50" "16" "68721492" "68721492" "subst" "3.65458E-5" "01943" "CDH3_000012" "g.68721492C>T" "" "" "" "CDH3(NM_001317195.1):c.1648C>T (p.P550S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68687589C>T" "" "VUS" ""
"0000272980" "0" "30" "16" "68721521" "68721521" "subst" "1.21818E-5" "01943" "CDH3_000013" "g.68721521C>T" "" "" "" "CDH3(NM_001793.5):c.1677C>T (p.S559=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68687618C>T" "" "likely benign" ""
"0000272981" "0" "50" "16" "68721547" "68721547" "subst" "0.000109638" "01943" "CDH3_000015" "g.68721547C>T" "" "" "" "CDH3(NM_001317195.1):c.1703C>T (p.T568M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68687644C>T" "" "VUS" ""
"0000272982" "0" "30" "16" "68729213" "68729213" "subst" "0.000824479" "01943" "CDH3_000016" "g.68729213C>T" "" "" "" "CDH3(NM_001793.5):c.2058C>T (p.P686=), CDH3(NM_001793.6):c.2058C>T (p.P686=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68695310C>T" "" "likely benign" ""
"0000272983" "0" "50" "16" "68729247" "68729247" "subst" "0" "01943" "CDH3_000017" "g.68729247G>A" "" "" "" "CDH3(NM_001793.5):c.2092G>A (p.V698I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68695344G>A" "" "VUS" ""
"0000272984" "0" "30" "16" "68729833" "68729833" "subst" "0.00175039" "01943" "CDH3_000018" "g.68729833C>T" "" "" "" "CDH3(NM_001317195.1):c.2280+7C>T (p.(=)), CDH3(NM_001317196.2):c.2115+7C>T, CDH3(NM_001793.5):c.2280+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68695930C>T" "" "likely benign" ""
"0000272985" "0" "30" "16" "68732168" "68732168" "subst" "3.65473E-5" "01943" "CDH3_000019" "g.68732168C>T" "" "" "" "CDH3(NM_001793.5):c.2355C>T (p.S785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68698265C>T" "" "likely benign" ""
"0000272986" "0" "30" "16" "68712135" "68712135" "subst" "0.00019898" "01943" "CDH3_000003" "g.68712135T>C" "" "" "" "CDH3(NM_001793.5):c.345T>C (p.S115=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68678232T>C" "" "likely benign" ""
"0000272987" "0" "30" "16" "68712423" "68712423" "subst" "0.000142168" "01943" "CDH3_000004" "g.68712423G>A" "" "" "" "CDH3(NM_001793.5):c.410G>A (p.R137K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68678520G>A" "" "likely benign" ""
"0000272988" "0" "50" "16" "68713864" "68713864" "subst" "1.62448E-5" "01943" "CDH3_000007" "g.68713864G>T" "" "" "" "CDH3(NM_001793.5):c.854G>T (p.G285V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68679961G>T" "" "VUS" ""
"0000340385" "0" "10" "16" "68725783" "68725783" "subst" "0.573215" "02327" "CDH3_000021" "g.68725783G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68691880G>A" "" "benign" ""
"0000340689" "0" "10" "16" "68729785" "68729785" "subst" "0.533707" "02327" "CDH3_000023" "g.68729785C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68695882C>A" "" "benign" ""
"0000350765" "0" "70" "16" "68725834" "68725834" "subst" "0" "02327" "CDH3_000022" "g.68725834G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.68691931G>C" "" "likely pathogenic" ""
"0000358189" "3" "70" "16" "68729746" "68729746" "subst" "1.21826E-5" "01243" "CDH3_000024" "g.68729746G>A" "" "{PMID:Beryozkin 2015:26306921}, {PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "g.68695843G>A" "" "likely pathogenic (recessive)" ""
"0000558800" "0" "10" "16" "68679634" "68679634" "subst" "0.00143614" "01943" "CDH3_000025" "g.68679634C>G" "" "" "" "CDH3(NM_001317195.1):c.141C>G (p.P47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68645731C>G" "" "benign" ""
"0000558801" "0" "30" "16" "68713815" "68713815" "subst" "0.00407287" "01804" "CDH3_000006" "g.68713815A>C" "" "" "" "CDH3(NM_001317195.1):c.805A>C (p.M269L, p.(Met269Leu)), CDH3(NM_001317196.2):c.640A>C (p.M214L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68679912A>C" "" "likely benign" ""
"0000558802" "0" "30" "16" "68713880" "68713880" "subst" "0" "01943" "CDH3_000026" "g.68713880G>T" "" "" "" "CDH3(NM_001317195.1):c.867+3G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68679977G>T" "" "likely benign" ""
"0000558803" "0" "10" "16" "68714854" "68714854" "subst" "0.000832494" "02330" "CDH3_000027" "g.68714854C>T" "" "" "" "CDH3(NM_001793.6):c.868-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68680951C>T" "" "benign" ""
"0000558804" "0" "10" "16" "68714912" "68714912" "subst" "0.00107227" "02330" "CDH3_000028" "g.68714912G>T" "" "" "" "CDH3(NM_001793.4):c.909G>T (p.(Met303Ile)), CDH3(NM_001793.5):c.909G>T (p.M303I), CDH3(NM_001793.6):c.909G>T (p.M303I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68681009G>T" "" "benign" ""
"0000558805" "0" "50" "16" "68714912" "68714912" "subst" "0.00107227" "01943" "CDH3_000028" "g.68714912G>T" "" "" "" "CDH3(NM_001793.4):c.909G>T (p.(Met303Ile)), CDH3(NM_001793.5):c.909G>T (p.M303I), CDH3(NM_001793.6):c.909G>T (p.M303I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68681009G>T" "" "VUS" ""
"0000558806" "0" "30" "16" "68716325" "68716325" "subst" "0.000381782" "01943" "CDH3_000029" "g.68716325G>A" "" "" "" "CDH3(NM_001317195.1):c.1117G>A (p.D373N), CDH3(NM_001793.6):c.1117G>A (p.D373N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68682422G>A" "" "likely benign" ""
"0000558807" "0" "50" "16" "68718601" "68718601" "subst" "0" "01804" "CDH3_000030" "g.68718601A>G" "" "" "" "CDH3(NM_001793.4):c.1298A>G (p.(Asp433Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68684698A>G" "" "VUS" ""
"0000558808" "0" "30" "16" "68719126" "68719126" "subst" "0.000398008" "02330" "CDH3_000031" "g.68719126C>T" "" "" "" "CDH3(NM_001317195.1):c.1443C>T (p.D481=), CDH3(NM_001317196.2):c.1278C>T (p.D426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68685223C>T" "" "likely benign" ""
"0000558809" "0" "50" "16" "68721437" "68721437" "subst" "0.00016243" "02330" "CDH3_000032" "g.68721437G>A" "" "" "" "CDH3(NM_001793.6):c.1593G>A (p.T531=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68687534G>A" "" "VUS" ""
"0000558810" "0" "30" "16" "68721498" "68721498" "subst" "0" "01804" "CDH3_000033" "g.68721498C>G" "" "" "" "CDH3(NM_001793.4):c.1654C>G (p.(Gln552Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68687595C>G" "" "likely benign" ""
"0000558811" "0" "30" "16" "68721525" "68721525" "subst" "0.00132782" "01943" "CDH3_000014" "g.68721525G>A" "" "" "" "CDH3(NM_001317195.1):c.1681G>A (p.V561M), CDH3(NM_001793.6):c.1681G>A (p.V561M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68687622G>A" "" "likely benign" ""
"0000558813" "0" "30" "16" "68725678" "68725678" "subst" "0" "01943" "CDH3_000035" "g.68725678G>A" "" "" "" "CDH3(NM_001317195.1):c.1851G>A (p.V617=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68691775G>A" "" "likely benign" ""
"0000558814" "0" "30" "16" "68725760" "68725760" "subst" "2.03069E-5" "01804" "CDH3_000036" "g.68725760G>A" "" "" "" "CDH3(NM_001793.4):c.1933G>A (p.(Glu645Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68691857G>A" "" "likely benign" ""
"0000558815" "0" "50" "16" "68729746" "68729746" "subst" "1.21826E-5" "01943" "CDH3_000024" "g.68729746G>A" "" "" "" "CDH3(NM_001317195.1):c.2200G>A (p.V734M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68695843G>A" "" "VUS" ""
"0000558816" "0" "50" "16" "68729786" "68729786" "subst" "2.4371E-5" "01804" "CDH3_000037" "g.68729786G>A" "" "" "" "CDH3(NM_001793.4):c.2240G>A (p.(Arg747Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68695883G>A" "" "VUS" ""
"0000558817" "0" "10" "16" "68732050" "68732050" "subst" "0.000826248" "01943" "CDH3_000038" "g.68732050G>T" "" "" "" "CDH3(NM_001317195.1):c.2335G>T (p.G779C), CDH3(NM_001317195.3):c.2335G>T (p.G779C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68698147G>T" "" "benign" ""
"0000616087" "0" "30" "16" "68712184" "68712184" "subst" "0" "01804" "CDH3_000039" "g.68712184C>G" "" "" "" "CDH3(NM_001793.4):c.390+4C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68678281C>G" "" "likely benign" ""
"0000616088" "0" "50" "16" "68712185" "68712185" "subst" "0.000280214" "01943" "CDH3_000040" "g.68712185G>A" "" "" "" "CDH3(NM_001317195.1):c.390+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68678282G>A" "" "VUS" ""
"0000616089" "0" "30" "16" "68714912" "68714912" "subst" "0.00107227" "01804" "CDH3_000028" "g.68714912G>T" "" "" "" "CDH3(NM_001793.4):c.909G>T (p.(Met303Ile)), CDH3(NM_001793.5):c.909G>T (p.M303I), CDH3(NM_001793.6):c.909G>T (p.M303I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68681009G>T" "" "likely benign" ""
"0000616090" "0" "50" "16" "68716245" "68716245" "subst" "4.06448E-6" "01804" "CDH3_000041" "g.68716245T>C" "" "" "" "CDH3(NM_001793.4):c.1037T>C (p.(Val346Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68682342T>C" "" "VUS" ""
"0000616091" "0" "50" "16" "68718662" "68718662" "subst" "0" "01943" "CDH3_000042" "g.68718662C>G" "" "" "" "CDH3(NM_001317195.1):c.1359C>G (p.I453M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68684759C>G" "" "VUS" ""
"0000623509" "0" "50" "16" "68732169" "68732169" "subst" "0.000653791" "01943" "CDH3_000043" "g.68732169G>A" "" "" "" "CDH3(NM_001317195.1):c.*99G>A (p.(=)), CDH3(NM_001793.5):c.2356G>A (p.G786S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68698266G>A" "" "VUS" ""
"0000657909" "0" "30" "16" "68710341" "68710341" "subst" "2.84243E-5" "01943" "CDH3_000044" "g.68710341G>A" "" "" "" "CDH3(NM_001317195.1):c.214G>A (p.D72N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.68676438G>A" "" "likely benign" ""
"0000659824" "21" "90" "16" "68712731" "68712731" "subst" "0" "00006" "CDH3_000045" "g.68712731G>A" "" "{PMID:Blanco-Kelly 2017:28061825}" "" "" "" "Germline" "" "" "0" "" "" "g.68678828G>A" "" "likely pathogenic (recessive)" ""
"0000659825" "11" "90" "16" "68713840" "68713840" "del" "0" "00006" "CDH3_000020" "g.68713840del" "" "{PMID:Blanco-Kelly 2017:28061825}" "" "" "" "Germline" "" "" "0" "" "" "g.68679937del" "" "pathogenic (recessive)" ""
"0000680634" "0" "70" "16" "68721640" "68721640" "subst" "0" "01804" "CDH3_000046" "g.68721640G>A" "" "" "" "CDH3(NM_001793.4):c.1795+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000685073" "0" "90" "16" "68713757" "68713757" "subst" "0" "00004" "CDH3_000024" "g.68713757C>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001317195.1:c.747C>A" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685074" "0" "70" "16" "68713840" "68713840" "subst" "0" "00004" "CDH3_000024" "g.68713840G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001317195.1:c.830G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000685075" "0" "90" "16" "68714984" "68714984" "del" "0" "00004" "CDH3_000024" "g.68714984del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001317195.1:c.981del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000685076" "0" "70" "16" "68729746" "68729746" "subst" "1.21826E-5" "00004" "CDH3_000024" "g.68729746G>A" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "NM_001317195.1:c.2200G>A" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000692112" "0" "30" "16" "68712520" "68712520" "subst" "4.06088E-6" "01943" "CDH3_000047" "g.68712520G>A" "" "" "" "CDH3(NM_001317195.1):c.507G>A (p.L169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692113" "0" "50" "16" "68719119" "68719119" "subst" "0.00139723" "01943" "CDH3_000010" "g.68719119T>C" "" "" "" "CDH3(NM_001317195.1):c.1436T>C (p.L479P, p.(Leu479Pro)), CDH3(NM_001793.6):c.1436T>C (p.L479P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000713586" "3" "90" "16" "68713839" "68713839" "del" "0" "00000" "CDH3_000048" "g.68713839del" "" "{PMID:Carss 2017:28041643}" "" "16:68713838AG>A ENST00000264012.4:c.830delG (Gly277AlafsTer20)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000725912" "0" "90" "16" "68716293" "68716293" "subst" "8.12453E-6" "02327" "CDH3_000050" "g.68716293G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000725913" "0" "70" "16" "68725621" "68725621" "subst" "2.03059E-5" "02330" "CDH3_000053" "g.68725621A>G" "" "" "" "CDH3(NM_001317196.2):c.1631-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000725914" "0" "50" "16" "68729288" "68729288" "subst" "0" "01943" "CDH3_000054" "g.68729288G>C" "" "" "" "CDH3(NM_001317195.1):c.2133G>C (p.Q711H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000729850" "3" "90" "16" "68716391" "68716391" "subst" "0" "00000" "CDH3_000051" "g.68716391G>A" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001793.4:c.1182+1G>A" "" "Germline" "" "" "0" "" "" "g.68682488G>A" "" "likely pathogenic (recessive)" ""
"0000729851" "3" "90" "16" "68712097" "68712097" "subst" "0" "00000" "CDH3_000049" "g.68712097C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_001793.4:c.307C>T:(p.Arg103*)" "" "Germline" "" "" "0" "" "" "g.68678194C>T" "" "pathogenic (recessive)" ""
"0000730622" "3" "90" "16" "68719191" "68719191" "subst" "4.06095E-6" "00000" "CDH3_000052" "g.68719191G>A" "" "{PMID:Birtel 2018:29555955}" "" "" "" "Germline" "" "" "0" "" "" "g.68685288G>A" "" "pathogenic (recessive)" ""
"0000735599" "0" "70" "16" "68712125" "68712125" "subst" "0" "00000" "CDH3_000055" "g.68712125C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.68678222C>T" "" "likely pathogenic" ""
"0000735722" "0" "70" "16" "68712125" "68712125" "subst" "0" "00000" "CDH3_000055" "g.68712125C>T" "" "{PMID:Haer-Wigman 2017:28224992}" "" "" "" "Germline" "" "" "0" "" "" "g.68678222C>T" "" "likely pathogenic" ""
"0000797965" "0" "70" "16" "68679285" "68679285" "subst" "0" "00000" "CDH3_000056" "g.68679285G>A" "" "{PMID:Jespersgaar 2019:30718709}" "" "CDH3 c.3G>A, p.(Met1?)" "single heterozygous variant (recessive)" "Germline" "?" "" "0" "" "" "g.68645382G>A" "" "likely pathogenic" "ACMG"
"0000807529" "0" "30" "16" "68716219" "68716219" "subst" "0.000117947" "02330" "CDH3_000057" "g.68716219G>C" "" "" "" "CDH3(NM_001317196.2):c.846G>C (p.V282=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807530" "0" "30" "16" "68719126" "68719126" "subst" "0.000398008" "01943" "CDH3_000031" "g.68719126C>T" "" "" "" "CDH3(NM_001317195.1):c.1443C>T (p.D481=), CDH3(NM_001317196.2):c.1278C>T (p.D426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807531" "0" "70" "16" "68719191" "68719191" "subst" "4.06095E-6" "01943" "CDH3_000052" "g.68719191G>A" "" "" "" "CDH3(NM_001317195.1):c.1508G>A (p.R503H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000807532" "0" "30" "16" "68725769" "68725769" "subst" "0.000178735" "01804" "CDH3_000058" "g.68725769C>T" "" "" "" "CDH3(NM_001793.4):c.1942C>T (p.(Pro648Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807533" "0" "30" "16" "68729833" "68729833" "subst" "0.00175039" "02330" "CDH3_000018" "g.68729833C>T" "" "" "" "CDH3(NM_001317195.1):c.2280+7C>T (p.(=)), CDH3(NM_001317196.2):c.2115+7C>T, CDH3(NM_001793.5):c.2280+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807534" "0" "30" "16" "68732050" "68732050" "subst" "0.000826248" "02330" "CDH3_000038" "g.68732050G>T" "" "" "" "CDH3(NM_001317195.1):c.2335G>T (p.G779C), CDH3(NM_001317195.3):c.2335G>T (p.G779C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000811395" "3" "70" "16" "68714980" "68714980" "subst" "0" "00000" "CDH3_000060" "g.68714980C>A" "" "{PMID:Khan 2019:31725702}" "" "Allele 1 c.977C>A (p.Pro326His), Allele 2 c.977C>A (p.Pro326His)" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68681077C>A" "" "likely pathogenic" ""
"0000812209" "0" "70" "16" "64430522" "64430522" "subst" "0" "00000" "CDH3_000059" "g.64430522A>T" "" "{PMID:Martin Merida 2019:30902645}" "" "RDH12 Ex.5 c.278T>C p.(Leu93Pro), Ex.6 c.375T>A p.(Asn125Lys), CDH3: Ex.10 c.1291_1294del p.(Val431Argfs*3) //EYS : Ex.43 c.9405T>A p.(Tyr3135*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.63720626A>T" "" "likely pathogenic" ""
"0000812210" "0" "70" "16" "68718594" "68718597" "del" "0" "00000" "CDH3_000061" "g.68718594_68718597del" "" "{PMID:Martin Merida 2019:30902645}" "" "RDH12 Ex.5 c.278T>C p.(Leu93Pro), Ex.6 c.375T>A p.(Asn125Lys), CDH3: Ex.10 c.1291_1294del p.(Val431Argfs*3) //EYS : Ex.43 c.9405T>A p.(Tyr3135*)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68684691_68684694del" "" "likely pathogenic" ""
"0000813814" "3" "70" "16" "68679654" "68679654" "subst" "1.45073E-5" "00000" "CDH3_000062" "g.68679654G>A" "" "{PMID:Schauren 2020:31696509}" "" "c.160+1G>A" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68645751G>A" "" "likely pathogenic" ""
"0000813815" "3" "70" "16" "68679654" "68679654" "subst" "1.45073E-5" "00000" "CDH3_000062" "g.68679654G>A" "" "{PMID:Schauren 2020:31696509}" "" "c.160+1G>A" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68645751G>A" "" "likely pathogenic" ""
"0000813816" "3" "70" "16" "68679654" "68679654" "subst" "1.45073E-5" "00000" "CDH3_000062" "g.68679654G>A" "" "{PMID:Schauren 2020:31696509}" "" "c.160+1G>A" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68645751G>A" "" "likely pathogenic" ""
"0000813817" "3" "70" "16" "68679654" "68679654" "subst" "1.45073E-5" "00000" "CDH3_000062" "g.68679654G>A" "" "{PMID:Schauren 2020:31696509}" "" "c.160+1G>A" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68645751G>A" "" "likely pathogenic" ""
"0000813818" "21" "70" "16" "68679654" "68679654" "subst" "1.45073E-5" "00000" "CDH3_000062" "g.68679654G>A" "" "{PMID:Schauren 2020:31696509}" "" "c.160+1G>A" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68645751G>A" "" "likely pathogenic" ""
"0000813819" "21" "70" "16" "68679654" "68679654" "subst" "1.45073E-5" "00000" "CDH3_000062" "g.68679654G>A" "" "{PMID:Schauren 2020:31696509}" "" "c.160+1G>A" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68645751G>A" "" "likely pathogenic" ""
"0000813820" "3" "70" "16" "68721640" "68721640" "subst" "0" "00000" "CDH3_000064" "g.68721640G>C" "" "{PMID:Schauren 2020:31696509}" "" "c.1795+1G>C" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68687737G>C" "" "likely pathogenic" ""
"0000813821" "3" "70" "16" "68721640" "68721640" "subst" "0" "00000" "CDH3_000064" "g.68721640G>C" "" "{PMID:Schauren 2020:31696509}" "" "c.1795+1G>C" "Homozygous" "Germline" "yes" "" "0" "" "" "g.68687737G>C" "" "likely pathogenic" ""
"0000813822" "11" "70" "16" "68716271" "68716271" "subst" "0" "00000" "CDH3_000063" "g.68716271G>T" "" "{PMID:Schauren 2020:31696509}" "" "c.1063G>T, p.Asp355Tyr" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68682368G>T" "" "likely pathogenic" ""
"0000813823" "11" "70" "16" "68716271" "68716271" "subst" "0" "00000" "CDH3_000063" "g.68716271G>T" "" "{PMID:Schauren 2020:31696509}" "" "c.1063G>T, p.Asp355Tyr" "Compound heterozygous" "Germline" "yes" "" "0" "" "" "g.68682368G>T" "" "likely pathogenic" ""
"0000815439" "0" "50" "16" "68719119" "68719119" "subst" "0.00139723" "00000" "CDH3_000010" "g.68719119T>C" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CDH3:NM_001793 c.T1436C, p.L479P" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.68685216T>C" "" "VUS" "ACMG"
"0000815484" "0" "50" "16" "68714912" "68714912" "subst" "0.00107227" "00000" "CDH3_000028" "g.68714912G>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CDH3:NM_001793 c.G909T, p.M303I" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.68681009G>T" "" "VUS" "ACMG"
"0000815544" "0" "50" "16" "68729196" "68729196" "subst" "1.62439E-5" "00000" "CDH3_000065" "g.68729196C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "CDH3:NM_001793 c.C2041T, p.R681W" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.68695293C>T" "" "VUS" "ACMG"
"0000818970" "1" "70" "16" "68721414" "68725830" "del" "0" "00000" "CDH3_000066" "g.(68719254_68721414)_(68725830_68729157)del" "" "{PMID:Ellingsford 2018:29074561}" "" "chr16:68721410–68725834" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000820089" "1" "70" "16" "68712106" "68712107" "del" "0" "00000" "CDH3_000067" "g.68712106_68712107del" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH3, variant 1: c.316_317del/p.K106Efs*12, variant 2: c.1086G>A/p.W362*" "different transcript described in the paper: NM_001317195.1(CDH3):c.316_317del, p.(Lys106Glufs*12), solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.68678203_68678204del" "" "likely pathogenic" ""
"0000820810" "1" "70" "16" "68716294" "68716294" "subst" "4.06227E-6" "00000" "CDH3_000068" "g.68716294G>A" "" "{PMID:Weisschuh 2020:32531858}" "" "CDH3, variant 1: c.316_317del/p.K106Efs*12, variant 2: c.1086G>A/p.W362*" "solved, compound heterozygous" "Unknown" "?" "" "0" "" "" "g.68682391G>A" "" "likely pathogenic" ""
"0000821189" "3" "90" "16" "68713840" "68713840" "del" "0" "00000" "CDH3_000020" "g.68713840del" "" "{PMID:Turro 2020:32581362}" "" "CDH3 c.830delG, p.Gly277AlafsTer20" "homozygous" "Germline/De novo (untested)" "?" "" "0" "" "" "g.68679937del" "" "pathogenic" ""
"0000825510" "0" "50" "16" "68721436" "68721436" "subst" "0.000121822" "00000" "CDH3_000071" "g.68721436C>T" "" "{PMID:Ng 2021:33846575}" "" "CDH3 c.1592C>T, p.T531M" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.68687533C>T" "" "VUS" ""
"0000825511" "0" "50" "16" "68716241" "68716241" "subst" "7.72188E-5" "00000" "CDH3_000069" "g.68716241G>A" "" "{PMID:Ng 2021:33846575}" "" "CDH3 c.1033G>A, p.E345K" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.68682338G>A" "" "VUS" ""
"0000825512" "0" "50" "16" "68716328" "68716328" "subst" "0" "00000" "CDH3_000070" "g.68716328G>A" "" "{PMID:Ng 2021:33846575}" "" "CDH3 c.1120G>A, p.G374R" "no zygosity and pathogenicity classification indicated" "Unknown" "?" "" "0" "" "" "g.68682425G>A" "" "VUS" ""
"0000854594" "0" "50" "16" "68710353" "68710353" "subst" "4.06095E-6" "01943" "CDH3_000072" "g.68710353C>T" "" "" "" "CDH3(NM_001317195.1):c.226C>T (p.R76W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000854595" "0" "30" "16" "68712475" "68712475" "subst" "0" "01943" "CDH3_000073" "g.68712475T>G" "" "" "" "CDH3(NM_001317195.1):c.462T>G (p.P154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854596" "0" "30" "16" "68725720" "68725720" "subst" "4.87278E-5" "01943" "CDH3_000074" "g.68725720G>A" "" "" "" "CDH3(NM_001317195.1):c.1893G>A (p.T631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854597" "0" "30" "16" "68729270" "68729270" "subst" "0.000148672" "01943" "CDH3_000075" "g.68729270G>A" "" "" "" "CDH3(NM_001317195.1):c.2115G>A (p.G705=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854598" "0" "30" "16" "68732282" "68732282" "subst" "4.46737E-5" "02330" "CDH3_000076" "g.68732282C>T" "" "" "" "CDH3(NM_001317196.2):c.2304C>T (p.Y768=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893131" "0" "10" "16" "68718539" "68718539" "subst" "0.00147817" "02330" "CDH3_000077" "g.68718539C>T" "" "" "" "CDH3(NM_001317196.2):c.1071C>T (p.N357=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000893132" "0" "50" "16" "68718611" "68718611" "subst" "8.1211E-6" "01804" "CDH3_000078" "g.68718611G>C" "" "" "" "CDH3(NM_001317195.1):c.1308G>C (p.(Glu436Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000893133" "0" "30" "16" "68729833" "68729833" "subst" "0.00175039" "01804" "CDH3_000018" "g.68729833C>T" "" "" "" "CDH3(NM_001317195.1):c.2280+7C>T (p.(=)), CDH3(NM_001317196.2):c.2115+7C>T, CDH3(NM_001793.5):c.2280+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893134" "0" "50" "16" "68732169" "68732169" "subst" "0.000653791" "01804" "CDH3_000043" "g.68732169G>A" "" "" "" "CDH3(NM_001317195.1):c.*99G>A (p.(=)), CDH3(NM_001793.5):c.2356G>A (p.G786S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000914670" "0" "30" "16" "68718588" "68718588" "subst" "0.00821043" "01804" "CDH3_000079" "g.68718588G>A" "" "" "" "CDH3(NM_001317195.1):c.1285G>A (p.(Val429Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000914671" "0" "50" "16" "68721433" "68721433" "subst" "0" "01804" "CDH3_000080" "g.68721433G>T" "" "" "" "CDH3(NM_001793.4):c.1589G>T (p.(Gly530Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000950702" "0" "30" "16" "68716324" "68716324" "subst" "4.87381E-5" "02330" "CDH3_000081" "g.68716324C>T" "" "" "" "CDH3(NM_001793.6):c.1116C>T (p.D372=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950703" "0" "30" "16" "68719119" "68719119" "subst" "0.00139723" "01804" "CDH3_000010" "g.68719119T>C" "" "" "" "CDH3(NM_001317195.1):c.1436T>C (p.L479P, p.(Leu479Pro)), CDH3(NM_001793.6):c.1436T>C (p.L479P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950704" "0" "90" "16" "68721640" "68721640" "subst" "0" "02327" "CDH3_000046" "g.68721640G>A" "" "" "" "CDH3(NM_001793.4):c.1795+1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000968454" "0" "30" "16" "68716325" "68716325" "subst" "0.000381782" "02330" "CDH3_000029" "g.68716325G>A" "" "" "" "CDH3(NM_001317195.1):c.1117G>A (p.D373N), CDH3(NM_001793.6):c.1117G>A (p.D373N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982003" "0" "50" "16" "68714922" "68714922" "subst" "1.62484E-5" "01804" "CDH3_000082" "g.68714922G>A" "" "" "" "CDH3(NM_001793.6):c.919G>A (p.(Gly307Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000982004" "0" "30" "16" "68718560" "68718560" "subst" "0.00669991" "01804" "CDH3_000083" "g.68718560G>A" "" "" "" "CDH3(NM_001793.6):c.1257G>A (p.(Lys419=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000982005" "0" "50" "16" "68732214" "68732214" "subst" "4.46711E-5" "01804" "CDH3_000084" "g.68732214G>A" "" "" "" "CDH3(NM_001793.6):c.2401G>A (p.(Asp801Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000986314" "1" "90" "16" "68716294" "68716294" "subst" "4.06227E-6" "04405" "CDH3_000068" "g.68716294G>A" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.68682391G>A" "" "pathogenic" "ACMG"
"0000986874" "2" "50" "16" "68721451" "68721451" "subst" "0" "04405" "CDH3_000085" "g.68721451T>C" "" "{PMID:Hitti-Malin 2024:38540785}, {DOI:Hitti-Malin 2024:10.3390/biom14030367}" "" "" "" "Germline" "" "" "0" "" "" "g.68687548T>C" "" "VUS" "ACMG"
"0001002498" "0" "50" "16" "68729684" "68729684" "subst" "3.25074E-5" "01804" "CDH3_000086" "g.68729684A>G" "" "" "" "CDH3(NM_001793.4):c.2138A>G (p.(Tyr713Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041273" "0" "50" "16" "68712518" "68712520" "del" "0" "01804" "CDH3_000087" "g.68712518_68712520del" "" "" "" "CDH3(NM_001793.6):c.505_507del (p.(Leu169del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041274" "0" "50" "16" "68716319" "68716319" "subst" "9.34215E-5" "01804" "CDH3_000088" "g.68716319G>A" "" "" "" "CDH3(NM_001793.6):c.1111G>A (p.(Gly371Ser))" "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 CDH3
## Count = 120
"{{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}}"
"0000013590" "00001544" "50" "2280" "1029" "2280" "1029" "c.2280+1029C>G" "r.(=)" "p.(=)" ""
"0000013591" "00001544" "50" "2281" "-1047" "2281" "-1047" "c.2281-1047A>G" "r.(=)" "p.(=)" ""
"0000247364" "00001544" "30" "805" "0" "805" "0" "c.805A>C" "r.(?)" "p.(Met269Leu)" ""
"0000254181" "00001544" "30" "805" "0" "805" "0" "c.805A>C" "r.(?)" "p.(Met269Leu)" ""
"0000264467" "00001544" "10" "1339" "0" "1339" "0" "c.1339G>A" "r.(?)" "p.(Val447Ile)" ""
"0000264468" "00001544" "30" "1436" "0" "1436" "0" "c.1436T>C" "r.(?)" "p.(Leu479Pro)" ""
"0000264469" "00001544" "30" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Val561Met)" ""
"0000264470" "00001544" "10" "2058" "0" "2058" "0" "c.2058C>T" "r.(?)" "p.(Pro686=)" ""
"0000264471" "00001544" "10" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Pro148=)" ""
"0000264472" "00001544" "10" "996" "13" "996" "13" "c.996+13C>T" "r.(=)" "p.(=)" ""
"0000272978" "00001544" "30" "1500" "0" "1500" "0" "c.1500C>T" "r.(?)" "p.(Thr500=)" ""
"0000272979" "00001544" "50" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Pro550Ser)" ""
"0000272980" "00001544" "30" "1677" "0" "1677" "0" "c.1677C>T" "r.(?)" "p.(Ser559=)" ""
"0000272981" "00001544" "50" "1703" "0" "1703" "0" "c.1703C>T" "r.(?)" "p.(Thr568Met)" ""
"0000272982" "00001544" "30" "2058" "0" "2058" "0" "c.2058C>T" "r.(?)" "p.(Pro686=)" ""
"0000272983" "00001544" "50" "2092" "0" "2092" "0" "c.2092G>A" "r.(?)" "p.(Val698Ile)" ""
"0000272984" "00001544" "30" "2280" "7" "2280" "7" "c.2280+7C>T" "r.(=)" "p.(=)" ""
"0000272985" "00001544" "30" "2355" "0" "2355" "0" "c.2355C>T" "r.(?)" "p.(Ser785=)" ""
"0000272986" "00001544" "30" "345" "0" "345" "0" "c.345T>C" "r.(?)" "p.(Ser115=)" ""
"0000272987" "00001544" "30" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137Lys)" ""
"0000272988" "00001544" "50" "854" "0" "854" "0" "c.854G>T" "r.(?)" "p.(Gly285Val)" ""
"0000340385" "00001544" "10" "1956" "0" "1956" "0" "c.1956G>A" "r.(?)" "p.(Lys652=)" ""
"0000340689" "00001544" "10" "2239" "0" "2239" "0" "c.2239C>A" "r.(?)" "p.(Arg747=)" ""
"0000350765" "00001544" "70" "2002" "5" "2002" "5" "c.2002+5G>C" "r.spl?" "p.?" ""
"0000358189" "00001544" "70" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Val734Met)" "15"
"0000558800" "00001544" "10" "141" "0" "141" "0" "c.141C>G" "r.(?)" "p.(Pro47=)" ""
"0000558801" "00001544" "30" "805" "0" "805" "0" "c.805A>C" "r.(?)" "p.(Met269Leu)" ""
"0000558802" "00001544" "30" "867" "3" "867" "3" "c.867+3G>T" "r.spl?" "p.?" ""
"0000558803" "00001544" "10" "868" "-17" "868" "-17" "c.868-17C>T" "r.(=)" "p.(=)" ""
"0000558804" "00001544" "10" "909" "0" "909" "0" "c.909G>T" "r.(?)" "p.(Met303Ile)" ""
"0000558805" "00001544" "50" "909" "0" "909" "0" "c.909G>T" "r.(?)" "p.(Met303Ile)" ""
"0000558806" "00001544" "30" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Asp373Asn)" ""
"0000558807" "00001544" "50" "1298" "0" "1298" "0" "c.1298A>G" "r.(?)" "p.(Asp433Gly)" ""
"0000558808" "00001544" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(Asp481=)" ""
"0000558809" "00001544" "50" "1593" "0" "1593" "0" "c.1593G>A" "r.(?)" "p.(Thr531=)" ""
"0000558810" "00001544" "30" "1654" "0" "1654" "0" "c.1654C>G" "r.(?)" "p.(Gln552Glu)" ""
"0000558811" "00001544" "30" "1681" "0" "1681" "0" "c.1681G>A" "r.(?)" "p.(Val561Met)" ""
"0000558813" "00001544" "30" "1851" "0" "1851" "0" "c.1851G>A" "r.(?)" "p.(Val617=)" ""
"0000558814" "00001544" "30" "1933" "0" "1933" "0" "c.1933G>A" "r.(?)" "p.(Glu645Lys)" ""
"0000558815" "00001544" "50" "2200" "0" "2200" "0" "c.2200G>A" "r.(?)" "p.(Val734Met)" ""
"0000558816" "00001544" "50" "2240" "0" "2240" "0" "c.2240G>A" "r.(?)" "p.(Arg747Gln)" ""
"0000558817" "00001544" "10" "2281" "-44" "2281" "-44" "c.2281-44G>T" "r.(=)" "p.(=)" ""
"0000616087" "00001544" "30" "390" "4" "390" "4" "c.390+4C>G" "r.spl?" "p.?" ""
"0000616088" "00001544" "50" "390" "5" "390" "5" "c.390+5G>A" "r.spl?" "p.?" ""
"0000616089" "00001544" "30" "909" "0" "909" "0" "c.909G>T" "r.(?)" "p.(Met303Ile)" ""
"0000616090" "00001544" "50" "1037" "0" "1037" "0" "c.1037T>C" "r.(?)" "p.(Val346Ala)" ""
"0000616091" "00001544" "50" "1359" "0" "1359" "0" "c.1359C>G" "r.(?)" "p.(Ile453Met)" ""
"0000623509" "00001544" "50" "2356" "0" "2356" "0" "c.2356G>A" "r.(?)" "p.(Gly786Ser)" ""
"0000657909" "00001544" "30" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Asp72Asn)" ""
"0000659824" "00001544" "90" "613" "0" "613" "0" "c.613G>A" "r.(?)" "p.(Val205Met)" ""
"0000659825" "00001544" "90" "830" "0" "830" "0" "c.830del" "r.(?)" "p.(Gly277Alafs*20)" ""
"0000680634" "00001544" "70" "1795" "1" "1795" "1" "c.1795+1G>A" "r.spl?" "p.?" ""
"0000685073" "00001544" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Tyr249*)" ""
"0000685074" "00001544" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gly277Asp)" ""
"0000685075" "00001544" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Met327Ilefs*23)" ""
"0000685076" "00001544" "70" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Val734Met)" ""
"0000692112" "00001544" "30" "507" "0" "507" "0" "c.507G>A" "r.(?)" "p.(Leu169=)" ""
"0000692113" "00001544" "50" "1436" "0" "1436" "0" "c.1436T>C" "r.(?)" "p.(Leu479Pro)" ""
"0000713586" "00001544" "90" "829" "0" "829" "0" "c.829del" "r.(?)" "p.(Gly277Alafs*20)" ""
"0000725912" "00001544" "90" "1085" "0" "1085" "0" "c.1085G>A" "r.(?)" "p.(Trp362*)" ""
"0000725913" "00001544" "70" "1796" "-2" "1796" "-2" "c.1796-2A>G" "r.spl?" "p.?" ""
"0000725914" "00001544" "50" "2133" "0" "2133" "0" "c.2133G>C" "r.(?)" "p.(Gln711His)" ""
"0000729850" "00001544" "90" "1182" "1" "1182" "1" "c.1182+1G>A" "r.spl?" "p.?" ""
"0000729851" "00001544" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Arg103*)" ""
"0000730622" "00001544" "90" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Arg503His)" "11"
"0000735599" "00001544" "70" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Ala112Val)" ""
"0000735722" "00001544" "70" "335" "0" "335" "0" "c.335C>T" "r.(?)" "p.(Ala112Val)" ""
"0000797965" "00001544" "70" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" ""
"0000807529" "00001544" "30" "1011" "0" "1011" "0" "c.1011G>C" "r.(?)" "p.(Val337=)" ""
"0000807530" "00001544" "30" "1443" "0" "1443" "0" "c.1443C>T" "r.(?)" "p.(Asp481=)" ""
"0000807531" "00001544" "70" "1508" "0" "1508" "0" "c.1508G>A" "r.(?)" "p.(Arg503His)" ""
"0000807532" "00001544" "30" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Pro648Ser)" ""
"0000807533" "00001544" "30" "2280" "7" "2280" "7" "c.2280+7C>T" "r.(=)" "p.(=)" ""
"0000807534" "00001544" "30" "2281" "-44" "2281" "-44" "c.2281-44G>T" "r.(=)" "p.(=)" ""
"0000811395" "00001544" "70" "977" "0" "977" "0" "c.977C>A" "r.(?)" "p.(Pro326His)" ""
"0000812209" "00001544" "70" "9405" "0" "9405" "0" "c.9405T>A" "r.(?)" "p.(Tyr3135*)" "43"
"0000812210" "00001544" "70" "1291" "0" "1294" "0" "c.1291_1294del" "r.(?)" "p.(Val431Argfs*3)" "10"
"0000813814" "00001544" "70" "160" "1" "160" "1" "c.160+1G>A" "r.spl" "p.(?)" ""
"0000813815" "00001544" "70" "160" "1" "160" "1" "c.160+1G>A" "r.spl" "p.(?)" ""
"0000813816" "00001544" "70" "160" "1" "160" "1" "c.160+1G>A" "r.spl" "p.(?)" ""
"0000813817" "00001544" "70" "160" "1" "160" "1" "c.160+1G>A" "r.spl" "p.(?)" ""
"0000813818" "00001544" "70" "160" "1" "160" "1" "c.160+1G>A" "r.spl" "p.(?)" ""
"0000813819" "00001544" "70" "160" "1" "160" "1" "c.160+1G>A" "r.spl" "p.(?)" ""
"0000813820" "00001544" "70" "1795" "1" "1795" "1" "c.1795+1G>C" "r.spl?" "p.?" ""
"0000813821" "00001544" "70" "1795" "1" "1795" "1" "c.1795+1G>C" "r.spl?" "p.?" ""
"0000813822" "00001544" "70" "1063" "0" "1063" "0" "c.1063G>T" "r.(?)" "p.(Asp355Tyr)" ""
"0000813823" "00001544" "70" "1063" "0" "1063" "0" "c.1063G>T" "r.(?)" "p.(Asp355Tyr)" ""
"0000815439" "00001544" "50" "1436" "0" "1436" "0" "c.1436T>C" "r.(?)" "p.(Leu479Pro)" ""
"0000815484" "00001544" "50" "909" "0" "909" "0" "c.909G>T" "r.(?)" "p.(Met303Ile)" ""
"0000815544" "00001544" "50" "2041" "0" "2041" "0" "c.2041C>T" "r.(?)" "p.(Arg681Trp)" ""
"0000818970" "00001544" "70" "1571" "-1" "2002" "1" "c.(1570+1_1571-1)_(2002+1_2003-1)del" "r.?" "p.?" "11i_13i"
"0000820089" "00001544" "70" "316" "0" "317" "0" "c.316_317del" "r.(?)" "p.(Lys106Glufs*12)" ""
"0000820810" "00001544" "70" "1086" "0" "1086" "0" "c.1086G>A" "r.(?)" "p.(Trp362*)" ""
"0000821189" "00001544" "90" "830" "0" "830" "0" "c.830del" "r.(?)" "p.(Gly277Alafs*20)" ""
"0000825510" "00001544" "50" "1592" "0" "1592" "0" "c.1592C>T" "r.(?)" "p.(Thr531Met)" ""
"0000825511" "00001544" "50" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Glu345Lys)" ""
"0000825512" "00001544" "50" "1120" "0" "1120" "0" "c.1120G>A" "r.(?)" "p.(Gly374Arg)" ""
"0000854594" "00001544" "50" "226" "0" "226" "0" "c.226C>T" "r.(?)" "p.(Arg76Trp)" ""
"0000854595" "00001544" "30" "462" "0" "462" "0" "c.462T>G" "r.(?)" "p.(Pro154=)" ""
"0000854596" "00001544" "30" "1893" "0" "1893" "0" "c.1893G>A" "r.(?)" "p.(Thr631=)" ""
"0000854597" "00001544" "30" "2115" "0" "2115" "0" "c.2115G>A" "r.(?)" "p.(Gly705=)" ""
"0000854598" "00001544" "30" "2469" "0" "2469" "0" "c.2469C>T" "r.(?)" "p.(Tyr823=)" ""
"0000893131" "00001544" "10" "1236" "0" "1236" "0" "c.1236C>T" "r.(?)" "p.(Asn412=)" ""
"0000893132" "00001544" "50" "1308" "0" "1308" "0" "c.1308G>C" "r.(?)" "p.(Glu436Asp)" ""
"0000893133" "00001544" "30" "2280" "7" "2280" "7" "c.2280+7C>T" "r.(=)" "p.(=)" ""
"0000893134" "00001544" "50" "2356" "0" "2356" "0" "c.2356G>A" "r.(?)" "p.(Gly786Ser)" ""
"0000914670" "00001544" "30" "1285" "0" "1285" "0" "c.1285G>A" "r.(?)" "p.(Val429Ile)" ""
"0000914671" "00001544" "50" "1589" "0" "1589" "0" "c.1589G>T" "r.(?)" "p.(Gly530Val)" ""
"0000950702" "00001544" "30" "1116" "0" "1116" "0" "c.1116C>T" "r.(?)" "p.(=)" ""
"0000950703" "00001544" "30" "1436" "0" "1436" "0" "c.1436T>C" "r.(?)" "p.(Leu479Pro)" ""
"0000950704" "00001544" "90" "1795" "1" "1795" "1" "c.1795+1G>A" "r.spl?" "p.?" ""
"0000968454" "00001544" "30" "1117" "0" "1117" "0" "c.1117G>A" "r.(?)" "p.(Asp373Asn)" ""
"0000982003" "00001544" "50" "919" "0" "919" "0" "c.919G>A" "r.(?)" "p.(Gly307Ser)" ""
"0000982004" "00001544" "30" "1257" "0" "1257" "0" "c.1257G>A" "r.(?)" "p.(=)" ""
"0000982005" "00001544" "50" "2401" "0" "2401" "0" "c.2401G>A" "r.(?)" "p.(Asp801Asn)" ""
"0000986314" "00001544" "90" "1086" "0" "1086" "0" "c.1086G>A" "r.(?)" "p.(Trp362Ter)" "9"
"0000986874" "00001544" "50" "1607" "0" "1607" "0" "c.1607T>C" "r.(?)" "p.(Leu536Pro)" "12"
"0001002498" "00001544" "50" "2138" "0" "2138" "0" "c.2138A>G" "r.(?)" "p.(Tyr713Cys)" ""
"0001041273" "00001544" "50" "505" "0" "507" "0" "c.505_507del" "r.(?)" "p.(Leu169del)" ""
"0001041274" "00001544" "50" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Gly371Ser)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 41
"{{screeningid}}" "{{variantid}}"
"0000000210" "0000013590"
"0000000210" "0000013591"
"0000156267" "0000358189"
"0000297201" "0000659824"
"0000297201" "0000659825"
"0000310162" "0000685073"
"0000310163" "0000685074"
"0000310164" "0000685075"
"0000310165" "0000685076"
"0000329463" "0000713586"
"0000332568" "0000729850"
"0000332569" "0000729851"
"0000333198" "0000730622"
"0000336324" "0000735599"
"0000336324" "0000735722"
"0000383724" "0000797965"
"0000384637" "0000811395"
"0000385256" "0000812209"
"0000385256" "0000812210"
"0000386336" "0000813814"
"0000386337" "0000813815"
"0000386338" "0000813816"
"0000386339" "0000813817"
"0000386340" "0000813818"
"0000386340" "0000813822"
"0000386341" "0000813819"
"0000386341" "0000813823"
"0000386342" "0000813820"
"0000386343" "0000813821"
"0000387452" "0000815484"
"0000387509" "0000815544"
"0000387516" "0000815439"
"0000389736" "0000818970"
"0000390744" "0000820089"
"0000390744" "0000820810"
"0000391440" "0000821189"
"0000394580" "0000825510"
"0000394581" "0000825511"
"0000394582" "0000825512"
"0000452331" "0000986314"
"0000452331" "0000986874"