### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EPHA2) # 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}}" "EPHA2" "EPH receptor A2" "1" "p36" "unknown" "NG_021396.1" "UD_132118665378" "" "https://www.LOVD.nl/EPHA2" "" "1" "3386" "1969" "176946" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/EPHA2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-04-16 10:44:24" "00006" "2025-11-09 20:55:00" ## 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}}" "00007156" "EPHA2" "EPH receptor A2" "001" "NM_004431.3" "" "NP_004422.2" "" "" "" "-155" "3809" "2931" "16482582" "16450832" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "01238" "CTRCT6" "cataract, type 6 (CTRCT-6)" "AD" "116600" "" "" "" "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" "05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "EPHA2" "01238" ## Individuals ## Do not remove or alter this header ## ## Count = 40 "{{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}}" "00065050" "" "" "" "1" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "no family history" "M" "no" "" "" "0" "" "" "" "" "00103133" "" "" "" "1" "" "01954" "" "" "M" "no" "China" "" "0" "" "" "" "" "00260857" "" "" "" "7" "" "00006" "{PMID:Chen 2017:28418495}" "3-generation family, 7 affected (4F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "" "Fam60061" "00260858" "" "" "" "5" "" "00006" "{PMID:Chen 2017:28418495}" "2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "" "" "" "0" "" "" "" "Fam60157" "00289577" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289578" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289579" "" "" "" "24" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00289580" "" "" "" "243" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304155" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304156" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00382150" "" "" "" "1" "" "00000" "{PMID:Patel 2019:30653986}" "" "?" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "289" "00383386" "" "" "" "1" "" "00000" "{PMID:Wang 2019:31555371}" "Family 2, individual IV-7" "F" "" "China" "" "0" "" "" "" "2_IV-7" "00392260" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "F" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "5" "00392295" "" "" "" "1" "" "00000" "{PMID:Bell 2021:33494148}" "" "M" "no" "(United Kingdom (Great Britain))" "" "0" "" "" "" "5" "00414366" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP33" "00414403" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP70" "00434070" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat3" "00434076" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat32" "00434129" "" "" "" "2" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam1PatII1" "00434132" "" "" "" "4" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam4PatIV1" "00434175" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam20" "00434176" "" "" "" "1" "" "00006" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Spain" "" "0" "" "" "" "Fam21" "00434213" "" "" "" "3" "" "00006" "{PMID:Jackson 2020:32830442}" "family" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam28PatI" "00434228" "" "" "00434213" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "sib" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam28PatII" "00434229" "" "" "00434213" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "sib" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam28PatIII" "00441885" "" "" "" "2" "" "00006" "{PMID:Aldahmesh 2012:22935719}, {PMID:Khan 2015:26622071}" "family, 2 affected sibs (2M), unaffected heterozygous parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Cata_DGU-10;Fam20" "00444115" "" "" "" "9" "" "00006" "{PMID:Astiazaran 2018:30450742}" "3-generation family, 9 affected (4F, 5M)" "F" "" "Mexico" "" "0" "" "" "" "Fam6PatIII2" "00444116" "" "" "00444115" "1" "" "00006" "{PMID:Astiazaran 2018:30450742}" "son" "M" "" "Mexico" "" "0" "" "" "" "Fam6PatIV2" "00444117" "" "" "00444115" "1" "" "00006" "{PMID:Astiazaran 2018:30450742}" "daughter" "F" "" "Mexico" "" "0" "" "" "" "Fam6PatIV3" "00444118" "" "" "00444115" "1" "" "00006" "{PMID:Astiazaran 2018:30450742}" "brother" "M" "" "Mexico" "" "0" "" "" "" "Fam6PatIII4" "00444918" "" "" "" "1" "" "00006" "{PMID:Ma 2016:26694549}" "2-generation family, 1 affected, unaffected parents" "F" "" "Australia" "" "0" "" "" "" "Fam35PatII1" "00444936" "" "" "" "1" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "10DG0428" "00444980" "" "" "" "2" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "14DG1568" "00445074" "" "" "" "1" "" "00006" "{PMID:Kessel 2021:34169787}" "patient" "" "" "Denmark" "" "0" "" "" "" "CC0000388" "00446433" "" "" "" "2" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected brother/sister, unaffected parents" "M" "" "China" "" "0" "" "" "" "Fam15Pat47" "00446461" "" "" "" "1" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Fam55Pat149" "00468310" "" "" "" "2" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "M" "" "China" "" "0" "" "" "" "Fam20Pat21514" "00468311" "" "" "00468310" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "F" "" "China" "" "0" "" "" "" "Fam20Pat21560" "00468360" "" "" "" "2" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "M" "" "China" "" "0" "" "" "" "Fam58Pat961" "00468472" "" "" "" "2" "" "00006" "{PMID:Wang 2024:38184101}" "family" "F" "" "China" "" "0" "" "" "" "Pat31" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 40 "{{individualid}}" "{{diseaseid}}" "00065050" "05165" "00103133" "00296" "00260857" "00296" "00260858" "00296" "00289577" "00198" "00289578" "00198" "00289579" "00198" "00289580" "00198" "00304155" "00198" "00304156" "00198" "00382150" "01238" "00383386" "05165" "00392260" "04214" "00392295" "04214" "00414366" "00198" "00414403" "00198" "00434070" "00296" "00434076" "00296" "00434129" "00296" "00434132" "00296" "00434175" "00296" "00434176" "00296" "00434213" "00198" "00434228" "00198" "00434229" "00198" "00441885" "00296" "00444115" "00296" "00444116" "00296" "00444117" "00296" "00444118" "00296" "00444918" "00296" "00444936" "00296" "00444980" "00296" "00445074" "00296" "00446433" "00296" "00446461" "00296" "00468310" "00296" "00468311" "00296" "00468360" "00296" "00468472" "00296" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 01238, 04214, 05165 ## Count = 34 "{{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}}" "0000051187" "05165" "00065050" "00006" "Familial, autosomal recessive" "" "R: lamellar cataract; L: minimal changes; vitreous abnormality, optic nerve hypoplasia (worse in R), R divergent squint, R exotropia, very pale fundi, hypermetropia, bilateral abnormal hypoplastic discs, abnormal trafficking of vessels, lens subluxation, phacodonesis; hypotonia, small size, poor weight gain due to feeding problems, developmental delay, communication and comprehension limited (no speech at 6 yrs, uses symbols to communicate), hand flapping, unusual head shape, fine hair with unusual hairline and chaotic patterning, single palmar crease, unusual low columnar nose, down-slanted palpebral fissures, thin upper lip, contact dermatitis, diffuse cerebral and cerebella atrophy, and reduced white matter on MRI" "" "" "" "" "" "" "" "" "" "" "" "0000081600" "00296" "00103133" "01954" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000199389" "00296" "00260857" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "CTRCT-6" "congenital cataract" "" "0000199390" "00296" "00260858" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000275992" "01238" "00382150" "00000" "Familial, autosomal dominant" "" "congenital cataract; MIM, 116600" "" "" "" "" "" "" "" "" "" "MIM, 116600" "" "0000277171" "05165" "00383386" "00000" "Familial, autosomal dominant" "3m" "Not determined Irregular spot-like cataract in the middle of the lens" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000285538" "04214" "00392260" "00000" "Familial, autosomal dominant" "43y" "Pseudophakia, microcornea, nystagmus, esotropia" "" "1y6m" "" "" "" "" "" "" "Cataract 6, multiple types" "" "" "0000285571" "04214" "00392295" "00000" "Familial, autosomal dominant" "5y" "aphakia(postsurgical)aphakia(postsurgical)microcornea, micropthalma, nystagmus" "" "1m" "" "" "" "" "" "" "Cataract 6, multiple types" "" "" "0000306201" "00198" "00414366" "00000" "Familial, autosomal dominant" "7y" "Cataract 6;Primary Open Angle Glaucoma 1A" "" "" "" "" "" "" "" "" "" "" "" "0000306238" "00198" "00414403" "00000" "Familial, autosomal dominant" "22y" "" "" "" "" "" "" "" "" "" "Cataract 6" "" "" "0000324446" "00296" "00434070" "00006" "Familial, autosomal dominant" "" "bilateral total cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324452" "00296" "00434076" "00006" "Familial, autosomal dominant" "" "bilateral cortical cataract" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324483" "00296" "00434129" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear cataract, white opacities" "" "" "" "" "" "" "" "" "CTRCT1" "cataract" "" "0000324486" "00296" "00434132" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000324533" "00296" "00434175" "00006" "Familial, autosomal dominant" "" "nuclear cataract; microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324534" "00296" "00434176" "00006" "Familial, autosomal dominant" "" "cataract; no microphthalmia; no microcornea; no iris malformations" "" "" "" "" "" "" "" "" "" "cataract" "" "0000324571" "00198" "00434213" "00006" "Familial, autosomal dominant" "14y" "developmental cataract; nystagmus; hypermetropia" "" "" "" "" "" "" "" "" "CTRCT6" "congenital cataract" "" "0000324586" "00198" "00434228" "00006" "Familial, autosomal dominant" "4y" "developmental cataract; nystagmus; hypermetropia" "" "" "" "" "" "" "" "" "CTRCT6" "congenital cataract" "" "0000324587" "00198" "00434229" "00006" "Familial, autosomal dominant" "8y" "developmental cataract; nystagmus; hypermetropia" "" "" "" "" "" "" "" "" "CTRCT6" "congenital cataract" "" "0000331273" "00296" "00441885" "00006" "Familial, autosomal recessive" "" "cataract, persistent fetal vasculature, congenital" "" "" "" "" "" "" "" "" "" "cataract" "" "0000333368" "00296" "00444115" "00006" "Familial, autosomal dominant" "" "bilateral cataract; strabismus" "1y" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000333369" "00296" "00444116" "00006" "Familial, autosomal dominant" "" "bilateral total cataract" "1d" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000333370" "00296" "00444117" "00006" "Familial, autosomal dominant" "" "bilateral nuclear cataract" "1d" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000333371" "00296" "00444118" "00006" "Familial, autosomal dominant" "" "bilateral cataract; strabismus" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000334168" "00296" "00444918" "00006" "Isolated (sporadic)" "" "see paper; ..., bilateral cataract, 2y-visual acuity 6/80 bilateral, nystagmus" "" "" "" "" "" "" "" "" "CTRCT3" "cataract" "" "0000334186" "00296" "00444936" "00006" "Familial, autosomal recessive" "" "pediatric cataract with posterior lenticonus; not syndromic" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000334230" "00296" "00444980" "00006" "Familial, autosomal dominant" "" "infantile cataract; not syndromic" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000334326" "00296" "00445074" "00006" "Familial, autosomal recessive" "" "isolated cataract" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000335655" "00296" "00446433" "00006" "Familial, autosomal dominant" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "CTRCT6" "congenital catarct" "" "0000335681" "00296" "00446461" "00006" "Isolated (sporadic)" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "CTRCT6" "congenital catarct" "" "0000353462" "00296" "00468310" "00006" "Familial, autosomal dominant" "22.1y" "see paper; ..., cataract; nystagmus; high myopia; 6.0y-surgery" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000353463" "00296" "00468311" "00006" "Familial, autosomal dominant" "5.0y" "see paper; ..., cataract; 1.0y-surgery" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000353512" "00296" "00468360" "00006" "Familial, autosomal dominant" "16.0y" "see paper; ..., cataract; nystagmus; 6.0y-surgery" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" "" "0000353624" "00296" "00468472" "00006" "Familial, autosomal dominant" "" "zonular cataract, nuclear cataract, sutural cataract; symmetrical opacities" "0y" "" "" "" "" "" "" "" "" "bilateral cataract" "" ## Screenings ## Do not remove or alter this header ## ## Count = 40 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000065192" "00065050" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 22:34:08" "SEQ;SEQ-NG" "DNA" "" "" "0000103587" "00103133" "1" "01954" "01954" "2017-04-05 05:08:43" "" "" "SEQ" "DNA" "" "" "0000261961" "00260857" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000261962" "00260858" "1" "00006" "00006" "2019-08-09 10:06:50" "" "" "SEQ" "DNA" "" "" "0000290745" "00289577" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290746" "00289578" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290747" "00289579" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000290748" "00289580" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305284" "00304155" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305285" "00304156" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000383366" "00382150" "1" "00000" "03840" "2021-09-07 10:12:12" "" "" "SEQ-NG" "DNA" "blood" "" "0000384611" "00383386" "1" "00000" "03840" "2021-09-29 09:56:40" "" "" "SEQ-NG" "DNA" "blood" "eye disease enrichment panel, see paper" "0000393502" "00392260" "1" "00000" "03840" "2021-11-22 09:44:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000393537" "00392295" "1" "00000" "03840" "2021-11-22 12:45:22" "" "" "SEQ-NG" "DNA" "blood" "targeted next-generation sequencing" "0000415646" "00414366" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000415683" "00414403" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000435537" "00434070" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435543" "00434076" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435596" "00434129" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435599" "00434132" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435643" "00434175" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435644" "00434176" "1" "00006" "00006" "2023-03-21 17:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435681" "00434213" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000435696" "00434228" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000435697" "00434229" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000443370" "00441885" "1" "00006" "00006" "2023-11-14 16:19:09" "" "" "SEQ" "DNA" "" "" "0000445612" "00444115" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445613" "00444116" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445614" "00444117" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000445615" "00444118" "1" "00006" "00006" "2023-12-18 16:39:30" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000446487" "00444918" "1" "00006" "00006" "2023-12-28 19:27:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000446505" "00444936" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446549" "00444980" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000446644" "00445074" "1" "00006" "00006" "2024-01-02 15:26:57" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448006" "00446433" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448034" "00446461" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000469976" "00468310" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469977" "00468311" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470026" "00468360" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000470139" "00468472" "1" "00006" "00006" "2025-11-09 20:53:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{geneid}}" "0000065192" "EPHA2" "0000103587" "EPHA2" "0000261961" "EPHA2" "0000261962" "EPHA2" "0000383366" "EPHA2" "0000384611" "RPGRIP1" "0000393502" "EPHA2" "0000393537" "EPHA2" "0000415646" "EPHA2" "0000415683" "EPHA2" "0000443370" "EPHA2" ## 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 = 92 "{{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}}" "0000096859" "3" "90" "1" "16464601" "16464602" "dup" "0" "00006" "EPHA2_000001" "g.16464601_16464602dup" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "1059_1060dupCA" "" "Germline" "" "" "0" "" "" "g.16138106_16138107dup" "" "pathogenic" "" "0000167021" "11" "70" "1" "16451771" "16451771" "subst" "0" "01954" "EPHA2_000002" "g.16451771C>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.16125276C>G" "" "likely pathogenic" "" "0000267850" "0" "10" "1" "16451767" "16451767" "subst" "0.278666" "02325" "EPHA2_000003" "g.16451767G>A" "" "" "" "EPHA2(NM_004431.5):c.2874C>T (p.I958=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16125272G>A" "" "benign" "" "0000267851" "0" "10" "1" "16475126" "16475126" "subst" "0.298768" "02325" "EPHA2_000013" "g.16475126C>T" "" "" "" "EPHA2(NM_004431.5):c.570G>A (p.A190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16148631C>T" "" "benign" "" "0000267852" "0" "10" "1" "16475123" "16475123" "subst" "0.298888" "02325" "EPHA2_000012" "g.16475123C>T" "" "" "" "EPHA2(NM_004431.5):c.573G>A (p.L191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16148628C>T" "" "benign" "" "0000276203" "0" "50" "1" "16464612" "16464612" "subst" "0.00324074" "01943" "EPHA2_000009" "g.16464612G>T" "" "" "" "EPHA2(NM_004431.4):c.1048C>A (p.P350T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16138117G>T" "" "VUS" "" "0000276204" "0" "30" "1" "16462216" "16462216" "subst" "8.13531E-6" "01943" "EPHA2_000008" "g.16462216G>T" "" "" "" "EPHA2(NM_004431.4):c.1362C>A (p.V454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16135721G>T" "" "likely benign" "" "0000276205" "0" "30" "1" "16460064" "16460064" "subst" "0" "01943" "EPHA2_000007" "g.16460064G>A" "" "" "" "EPHA2(NM_004431.4):c.1776C>T (p.H592=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16133569G>A" "" "likely benign" "" "0000276206" "0" "30" "1" "16459832" "16459832" "subst" "0.00561259" "01943" "EPHA2_000006" "g.16459832C>T" "" "" "" "EPHA2(NM_004431.4):c.1896G>A (p.L632=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16133337C>T" "" "likely benign" "" "0000276207" "0" "30" "1" "16459787" "16459787" "subst" "0.0111063" "01943" "EPHA2_000005" "g.16459787C>A" "" "" "" "EPHA2(NM_004431.4):c.1941G>T (p.T647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16133292C>A" "" "likely benign" "" "0000276208" "0" "50" "1" "16458722" "16458722" "subst" "0.000694981" "01943" "EPHA2_000004" "g.16458722C>T" "" "" "" "EPHA2(NM_004431.4):c.2162G>A (p.R721Q), EPHA2(NM_004431.5):c.2162G>A (p.(Arg721Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16132227C>T" "" "VUS" "" "0000276209" "0" "30" "1" "16475243" "16475243" "subst" "0.00130432" "01943" "EPHA2_000015" "g.16475243G>A" "" "" "" "EPHA2(NM_004431.4):c.453C>T (p.T151=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16148748G>A" "" "likely benign" "" "0000276210" "0" "50" "1" "16475173" "16475173" "subst" "0.00036888" "01943" "EPHA2_000014" "g.16475173G>A" "" "" "" "EPHA2(NM_004431.4):c.523C>T (p.R175C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16148678G>A" "" "VUS" "" "0000276211" "0" "30" "1" "16475048" "16475048" "subst" "0.0113916" "01943" "EPHA2_000011" "g.16475048G>A" "" "" "" "EPHA2(NM_004431.4):c.648C>T (p.A216=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16148553G>A" "" "likely benign" "" "0000276212" "0" "30" "1" "16474982" "16474982" "subst" "0.00160585" "01943" "EPHA2_000010" "g.16474982C>G" "" "" "" "EPHA2(NM_004431.4):c.714G>C (p.P238=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16148487C>G" "" "likely benign" "" "0000276213" "0" "30" "1" "16477467" "16477467" "subst" "0.00561094" "01943" "EPHA2_000016" "g.16477467G>A" "" "" "" "EPHA2(NM_004431.4):c.86-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16150972G>A" "" "likely benign" "" "0000346332" "0" "70" "1" "16451799" "16451799" "subst" "0" "02327" "EPHA2_000017" "g.16451799C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.16125304C>T" "" "likely pathogenic" "" "0000504077" "0" "10" "1" "16451722" "16451722" "subst" "0.00208784" "01943" "EPHA2_000018" "g.16451722C>T" "" "" "" "EPHA2(NM_004431.4):c.2919G>A (p.G973=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16125227C>T" "" "benign" "" "0000504078" "0" "30" "1" "16451737" "16451737" "subst" "0.00189832" "01943" "EPHA2_000019" "g.16451737C>G" "" "" "" "EPHA2(NM_004431.4):c.2904G>C (p.Q968H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16125242C>G" "" "likely benign" "" "0000504079" "0" "50" "1" "16451766" "16451766" "subst" "0.000492731" "01943" "EPHA2_000020" "g.16451766C>T" "" "" "" "EPHA2(NM_004431.4):c.2875G>A (p.A959T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16125271C>T" "" "VUS" "" "0000504080" "0" "70" "1" "16458252" "16458252" "subst" "0" "02327" "EPHA2_000021" "g.16458252A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16131757A>C" "" "likely pathogenic" "" "0000504081" "0" "50" "1" "16459996" "16459996" "subst" "2.03069E-5" "01943" "EPHA2_000022" "g.16459996C>T" "" "" "" "EPHA2(NM_004431.4):c.1844G>A (p.R615Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16133501C>T" "" "VUS" "" "0000504082" "0" "50" "1" "16461561" "16461561" "subst" "1.62849E-5" "01943" "EPHA2_000023" "g.16461561C>T" "" "" "" "EPHA2(NM_004431.4):c.1552G>A (p.G518S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16135066C>T" "" "VUS" "" "0000504083" "0" "30" "1" "16461581" "16461581" "subst" "0.002456" "01943" "EPHA2_000024" "g.16461581G>A" "" "" "" "EPHA2(NM_004431.4):c.1532C>T (p.T511M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16135086G>A" "" "likely benign" "" "0000504084" "0" "30" "1" "16462195" "16462195" "subst" "9.75626E-5" "01943" "EPHA2_000025" "g.16462195C>T" "" "" "" "EPHA2(NM_004431.4):c.1383G>A (p.P461=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16135700C>T" "" "likely benign" "" "0000504085" "0" "50" "1" "16464591" "16464591" "subst" "0" "01943" "EPHA2_000026" "g.16464591G>A" "" "" "" "EPHA2(NM_004431.4):c.1069C>T (p.R357C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16138096G>A" "" "VUS" "" "0000504086" "0" "30" "1" "16474955" "16474955" "subst" "4.06379E-6" "01943" "EPHA2_000027" "g.16474955A>G" "" "" "" "EPHA2(NM_004431.4):c.741T>C (p.C247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16148460A>G" "" "likely benign" "" "0000504087" "0" "10" "1" "16475001" "16475001" "subst" "0.00131723" "01943" "EPHA2_000028" "g.16475001T>C" "" "" "" "EPHA2(NM_004431.4):c.695A>G (p.D232G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16148506T>C" "" "benign" "" "0000592088" "3" "50" "1" "16460026" "16460026" "subst" "3.24902E-5" "00006" "EPHA2_000029" "g.16460026G>A" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16133531G>A" "" "VUS" "" "0000592089" "3" "50" "1" "16460026" "16460026" "subst" "3.24902E-5" "00006" "EPHA2_000029" "g.16460026G>A" "" "{PMID:Chen 2017:28418495}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16133531G>A" "" "VUS" "" "0000604976" "0" "50" "1" "16456083" "16456083" "subst" "0" "01943" "EPHA2_000030" "g.16456083C>G" "" "" "" "EPHA2(NM_004431.4):c.2671G>C (p.V891L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16129588C>G" "" "VUS" "" "0000604977" "0" "30" "1" "16464599" "16464599" "subst" "8.25941E-6" "01943" "EPHA2_000032" "g.16464599C>T" "" "" "" "EPHA2(NM_004431.4):c.1061G>A (p.S354N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16138104C>T" "" "likely benign" "" "0000620428" "0" "50" "1" "16464480" "16464480" "subst" "1.21997E-5" "01943" "EPHA2_000031" "g.16464480G>A" "" "" "" "EPHA2(NM_004431.4):c.1180C>T (p.R394C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16137985G>A" "" "VUS" "" "0000647434" "1" "30" "1" "16456763" "16456763" "subst" "0.0170896" "03575" "EPHA2_000033" "g.16456763C>T" "14/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs35903225}" "Germline" "" "rs35903225" "0" "" "" "g.16130268C>T" "" "likely benign" "" "0000647435" "1" "50" "1" "16458645" "16458645" "subst" "0.000580697" "03575" "EPHA2_000034" "g.16458645C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 3 heterozygous, no homozygous; {DB:CLININrs145592908}" "Germline" "" "rs145592908" "0" "" "" "g.16132150C>T" "" "VUS" "" "0000647436" "1" "30" "1" "16461581" "16461581" "subst" "0.002456" "03575" "EPHA2_000024" "g.16461581G>A" "24/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "24 heterozygous; {DB:CLININrs55747232}" "Germline" "" "rs55747232" "0" "" "" "g.16135086G>A" "" "likely benign" "" "0000647437" "1" "10" "1" "16464936" "16464936" "subst" "0.0254797" "03575" "EPHA2_000035" "g.16464936C>T" "243/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "243 heterozygous; {DB:CLININrs2291804}" "Germline" "" "rs2291804" "0" "" "" "g.16138441C>T" "" "benign" "" "0000653801" "0" "30" "1" "16462264" "16462264" "subst" "0.00307121" "01943" "EPHA2_000036" "g.16462264C>T" "" "" "" "EPHA2(NM_004431.4):c.1314G>A (p.E438=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.16135769C>T" "" "likely benign" "" "0000668972" "3" "30" "1" "16461581" "16461581" "subst" "0.002456" "03575" "EPHA2_000024" "g.16461581G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs55747232}" "Germline" "" "rs55747232" "0" "" "" "g.16135086G>A" "" "likely benign" "" "0000668973" "3" "10" "1" "16464936" "16464936" "subst" "0.0254797" "03575" "EPHA2_000035" "g.16464936C>T" "11/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 homozygous; {DB:CLININrs2291804}" "Germline" "" "rs2291804" "0" "" "" "g.16138441C>T" "" "benign" "" "0000675528" "0" "30" "1" "16459744" "16459744" "subst" "0.000211337" "01943" "EPHA2_000037" "g.16459744C>T" "" "" "" "EPHA2(NM_004431.4):c.1984G>A (p.G662S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000675529" "0" "30" "1" "16477403" "16477403" "subst" "2.03059E-5" "01943" "EPHA2_000038" "g.16477403C>T" "" "" "" "EPHA2(NM_004431.4):c.141G>A (p.P47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687933" "0" "30" "1" "16456054" "16456054" "subst" "0" "01943" "EPHA2_000039" "g.16456054G>C" "" "" "" "EPHA2(NM_004431.4):c.2700C>G (p.G900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687934" "0" "30" "1" "16458894" "16458894" "subst" "4.09303E-6" "01943" "EPHA2_000040" "g.16458894C>T" "" "" "" "EPHA2(NM_004431.4):c.2094G>A (p.G698=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000687935" "0" "30" "1" "16459983" "16459983" "subst" "8.53021E-5" "01943" "EPHA2_000041" "g.16459983G>A" "" "" "" "EPHA2(NM_004431.4):c.1857C>T (p.I619=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716962" "0" "30" "1" "16458715" "16458715" "subst" "2.84423E-5" "01943" "EPHA2_000042" "g.16458715G>A" "" "" "" "EPHA2(NM_004431.4):c.2169C>T (p.I723=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716963" "0" "30" "1" "16460027" "16460027" "subst" "1.21837E-5" "01943" "EPHA2_000043" "g.16460027T>C" "" "" "" "EPHA2(NM_004431.4):c.1813A>G (p.T605A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000716964" "0" "50" "1" "16462218" "16462218" "subst" "1.22035E-5" "01943" "EPHA2_000044" "g.16462218C>T" "" "" "" "EPHA2(NM_004431.4):c.1360G>A (p.V454I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000716965" "0" "30" "1" "16475522" "16475522" "subst" "1.22133E-5" "01943" "EPHA2_000045" "g.16475522G>T" "" "" "" "EPHA2(NM_004431.4):c.174C>A (p.I58=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000797427" "0" "70" "1" "16451824" "16451824" "subst" "0" "00000" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Patel 2019:30653986}" "" "c.2826-9G-->A; p.?" "no Sanger sequencing; heterozygous" "Germline" "?" "" "0" "" "" "g.16125329C>T" "" "likely pathogenic" "" "0000798889" "0" "50" "1" "16456809" "16456809" "subst" "4.09031E-6" "01943" "EPHA2_000049" "g.16456809G>A" "" "" "" "EPHA2(NM_004431.4):c.2581C>T (p.R861C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000798890" "0" "90" "1" "16462243" "16462243" "dup" "0" "01943" "EPHA2_000050" "g.16462243dup" "" "" "" "EPHA2(NM_004431.4):c.1337dupG (p.R447Pfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000798891" "0" "30" "1" "16464342" "16464342" "subst" "4.10846E-6" "01943" "EPHA2_000051" "g.16464342C>G" "" "" "" "EPHA2(NM_004431.4):c.1312+6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000811357" "0" "70" "1" "16455928" "16455928" "subst" "0" "00000" "EPHA2_000052" "g.16455928C>T" "" "{PMID:Wang 2019:31555371}" "" "c.2663+1G>A, p.(?)" "different transcript: NM_001329090.1(EPHA2):c.2663+1G>A" "Germline" "?" "" "0" "" "" "g.16129433C>T" "" "likely pathogenic" "" "0000824264" "0" "70" "1" "16460089" "16460089" "subst" "0" "00000" "EPHA2_000053" "g.16460089G>A" "" "{PMID:Bell 2021:33494148}" "" "EPHA2 c.1751C>T, p.Pro584Leu" "heterozygous, present in two affected relatives" "Germline" "yes" "" "0" "" "" "g.16133594G>A" "" "likely pathogenic" "" "0000824307" "0" "70" "1" "16460089" "16460089" "subst" "0" "00000" "EPHA2_000053" "g.16460089G>A" "" "{PMID:Bell 2021:33494148}" "" "EPHA2 c.1751C>T, p.Pro584Leu" "heterozygous, present in two affected relatives" "Germline" "yes" "" "0" "" "" "g.16133594G>A" "" "likely pathogenic" "" "0000848371" "0" "30" "1" "16459742" "16459742" "subst" "4.06514E-6" "01943" "EPHA2_000054" "g.16459742G>C" "" "" "" "EPHA2(NM_004431.4):c.1986C>G (p.G662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848372" "0" "50" "1" "16461677" "16461677" "subst" "0" "01943" "EPHA2_000055" "g.16461677G>A" "" "" "" "EPHA2(NM_004431.4):c.1436C>T (p.S479F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848373" "0" "50" "1" "16475266" "16475266" "subst" "0" "01943" "EPHA2_000056" "g.16475266T>C" "" "" "" "EPHA2(NM_004431.4):c.430A>G (p.T144A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000873487" "0" "70" "1" "16464805" "16464805" "subst" "0.00135314" "00000" "EPHA2_000058" "g.16464805C>T" "133" "{PMID:Sun 2018:30076350}" "" "EPHA2 (NM_004431.3):c.944G>A(p.R315Q); MYOC (NM_000261.1):c.1432G>T(p.D478Y)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16138310C>T" "" "likely pathogenic" "" "0000873539" "0" "70" "1" "16464677" "16464677" "subst" "0" "00000" "EPHA2_000057" "g.16464677G>T" "170" "{PMID:Sun 2018:30076350}" "" "EPHA2(NM_004431.3):c.983C>A(p.P328H)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.16138182G>T" "" "likely pathogenic" "" "0000882903" "0" "50" "1" "16475259" "16475259" "subst" "4.06273E-6" "02327" "EPHA2_000059" "g.16475259G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000882904" "0" "50" "1" "16475286" "16475286" "subst" "0" "02329" "EPHA2_000060" "g.16475286C>A" "" "" "" "EPHA2(NM_004431.5):c.410G>T (p.R137L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000921538" "1" "90" "1" "16455951" "16455951" "subst" "0" "00006" "EPHA2_000061" "g.16455951T>A" "" "{PMID:Li 2016:27307692}" "" "" "not specified splice variant in CRYGA" "Germline" "" "" "0" "" "" "g.16129456T>A" "" "pathogenic" "" "0000921565" "1" "50" "1" "16455954" "16455954" "subst" "8.13564E-6" "00006" "EPHA2_000062" "g.16455954C>T" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.16129459C>T" "" "VUS" "" "0000921622" "0" "50" "1" "16461581" "16461581" "subst" "0.002456" "00006" "EPHA2_000024" "g.16461581G>A" "" "{PMID:Li 2019:31842807}" "" "" "ACMG PM1 PM2 PP1 PP3 PP4 BS1 BS2 BP6" "Germline" "" "rs55747232" "0" "" "" "g.16135086G>A" "" "VUS" "ACMG" "0000921624" "0" "30" "1" "16451767" "16451767" "subst" "0.278666" "00006" "EPHA2_000003" "g.16451767G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs3754334" "0" "" "" "g.16125272G>A" "" "likely benign" "" "0000921625" "0" "30" "1" "16459745" "16459745" "subst" "0.083458" "00006" "EPHA2_000063" "g.16459745G>A" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs10907223" "0" "" "" "g.16133250G>A" "" "likely benign" "" "0000921804" "21" "70" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Germline" "" "" "0" "" "" "g.16125329C>T" "" "likely pathogenic (dominant)" "" "0000921805" "11" "50" "1" "16475047" "16475047" "subst" "0" "00006" "EPHA2_000064" "g.16475047C>G" "" "{PMID:Fernandez-Alcalde 2021:33923544}" "" "" "" "Germline" "" "" "0" "" "" "g.16148552C>G" "" "VUS" "" "0000921854" "0" "90" "1" "16460089" "16460089" "subst" "0" "00006" "EPHA2_000053" "g.16460089G>A" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.16133594G>A" "" "pathogenic (dominant)" "" "0000921869" "0" "90" "1" "16460089" "16460089" "subst" "0" "00006" "EPHA2_000053" "g.16460089G>A" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.16133594G>A" "" "pathogenic (dominant)" "" "0000921870" "0" "90" "1" "16460089" "16460089" "subst" "0" "00006" "EPHA2_000053" "g.16460089G>A" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.16133594G>A" "" "pathogenic (dominant)" "" "0000944783" "3" "90" "1" "16462173" "16462173" "subst" "0" "00006" "EPHA2_000065" "g.16462173A>G" "" "{PMID:Aldahmesh 2012:22935719}, {PMID:Khan 2015:26622071}" "" "" "" "Germline" "" "" "0" "" "" "g.16135678A>G" "" "pathogenic (recessive)" "" "0000953746" "21" "70" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "rs886041412" "0" "" "" "g.16125329C>T" "" "likely pathogenic (dominant)" "" "0000953747" "21" "70" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "rs886041412" "0" "" "" "g.16125329C>T" "" "likely pathogenic (dominant)" "" "0000953748" "21" "70" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "rs886041412" "0" "" "" "g.16125329C>T" "" "likely pathogenic (dominant)" "" "0000953749" "21" "70" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Astiazaran 2018:30450742}" "" "" "" "Germline" "yes" "rs886041412" "0" "" "" "g.16125329C>T" "" "likely pathogenic (dominant)" "" "0000954841" "11" "50" "1" "16459750" "16459750" "subst" "4.06372E-6" "00006" "EPHA2_000067" "g.16459750A>C" "" "{PMID:Ma 2016:26694549}" "" "" "" "Germline" "" "" "0" "" "" "g.16133255A>C" "" "VUS" "" "0000954849" "3" "90" "1" "16462263" "16462263" "subst" "0" "00006" "EPHA2_000068" "g.16462263G>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16135768G>A" "" "pathogenic (recessive)" "" "0000954893" "1" "90" "1" "16459721" "16459721" "subst" "0" "00006" "EPHA2_000066" "g.16459721C>A" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.16133226C>A" "" "pathogenic (dominant)" "" "0000954997" "3" "70" "1" "16461570" "16461570" "subst" "0" "00006" "EPHA2_000069" "g.16461570G>A" "" "{PMID:Kessel 2021:34169787}" "" "" "ACMG PSV1, PM2" "Germline" "" "" "0" "" "" "g.16135075G>A" "" "likely pathogenic (recessive)" "" "0000957386" "0" "90" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "rs886041412" "0" "" "" "g.16125329C>T" "rs886041412" "pathogenic" "" "0000957414" "0" "90" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Liu 2023:37337769}" "" "" "" "De novo" "" "rs886041412" "0" "" "" "g.16125329C>T" "rs886041412" "pathogenic (dominant)" "" "0001013235" "0" "90" "1" "16451824" "16451824" "subst" "0" "02327" "EPHA2_000048" "g.16451824C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013236" "0" "70" "1" "16461529" "16461529" "subst" "0" "02327" "EPHA2_000070" "g.16461529A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001031445" "0" "50" "1" "16458722" "16458722" "subst" "0.000694981" "01804" "EPHA2_000004" "g.16458722C>T" "" "" "" "EPHA2(NM_004431.4):c.2162G>A (p.R721Q), EPHA2(NM_004431.5):c.2162G>A (p.(Arg721Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031446" "0" "30" "1" "16461601" "16461601" "subst" "0.00466579" "01804" "EPHA2_000071" "g.16461601C>A" "" "" "" "EPHA2(NM_004431.5):c.1512G>T (p.(Leu504=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001058057" "0" "70" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.16125329C>T" "" "likely pathogenic (dominant)" "" "0001058058" "0" "70" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.16125329C>T" "" "likely pathogenic (dominant)" "" "0001058107" "0" "70" "1" "16451824" "16451824" "subst" "0" "00006" "EPHA2_000048" "g.16451824C>T" "" "{PMID:Guo 2025:40449652}" "" "" "" "Germline" "" "" "0" "" "" "g.16125329C>T" "" "likely pathogenic (dominant)" "" "0001058226" "0" "70" "1" "16455935" "16455935" "subst" "0" "00006" "EPHA2_000072" "g.16455935G>A" "" "{PMID:Wang 2024:38184101}" "" "" "ACMG PS3_sup, PS4_mod, PM1_sup, PM2_sup, PP1_strong" "Germline" "" "" "0" "" "" "g.16129440G>A" "" "likely pathogenic (dominant)" "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 EPHA2 ## Count = 92 "{{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}}" "0000096859" "00007156" "90" "1059" "0" "1060" "0" "c.1059_1060dup" "r.(?)" "p.(Ser354Thrfs*40)" "5" "0000167021" "00007156" "70" "2870" "0" "2870" "0" "c.2870G>C" "r.(?)" "p.(Arg957Pro)" "17" "0000267850" "00007156" "10" "2874" "0" "2874" "0" "c.2874C>T" "r.(?)" "p.(Ile958=)" "" "0000267851" "00007156" "10" "570" "0" "570" "0" "c.570G>A" "r.(?)" "p.(Ala190=)" "" "0000267852" "00007156" "10" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Leu191=)" "" "0000276203" "00007156" "50" "1048" "0" "1048" "0" "c.1048C>A" "r.(?)" "p.(Pro350Thr)" "" "0000276204" "00007156" "30" "1362" "0" "1362" "0" "c.1362C>A" "r.(?)" "p.(Val454=)" "" "0000276205" "00007156" "30" "1776" "0" "1776" "0" "c.1776C>T" "r.(?)" "p.(His592=)" "" "0000276206" "00007156" "30" "1896" "0" "1896" "0" "c.1896G>A" "r.(?)" "p.(Leu632=)" "" "0000276207" "00007156" "30" "1941" "0" "1941" "0" "c.1941G>T" "r.(?)" "p.(Thr647=)" "" "0000276208" "00007156" "50" "2162" "0" "2162" "0" "c.2162G>A" "r.(?)" "p.(Arg721Gln)" "" "0000276209" "00007156" "30" "453" "0" "453" "0" "c.453C>T" "r.(?)" "p.(Thr151=)" "" "0000276210" "00007156" "50" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Arg175Cys)" "" "0000276211" "00007156" "30" "648" "0" "648" "0" "c.648C>T" "r.(?)" "p.(Ala216=)" "" "0000276212" "00007156" "30" "714" "0" "714" "0" "c.714G>C" "r.(?)" "p.(Pro238=)" "" "0000276213" "00007156" "30" "86" "-9" "86" "-9" "c.86-9C>T" "r.(=)" "p.(=)" "" "0000346332" "00007156" "70" "2842" "0" "2842" "0" "c.2842G>A" "r.(?)" "p.(Gly948Arg)" "" "0000504077" "00007156" "10" "2919" "0" "2919" "0" "c.2919G>A" "r.(?)" "p.(Gly973=)" "" "0000504078" "00007156" "30" "2904" "0" "2904" "0" "c.2904G>C" "r.(?)" "p.(Gln968His)" "" "0000504079" "00007156" "50" "2875" "0" "2875" "0" "c.2875G>A" "r.(?)" "p.(Ala959Thr)" "" "0000504080" "00007156" "70" "2439" "0" "2439" "0" "c.2439T>G" "r.(?)" "p.(Tyr813Ter)" "" "0000504081" "00007156" "50" "1844" "0" "1844" "0" "c.1844G>A" "r.(?)" "p.(Arg615Gln)" "" "0000504082" "00007156" "50" "1552" "0" "1552" "0" "c.1552G>A" "r.(?)" "p.(Gly518Ser)" "" "0000504083" "00007156" "30" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Thr511Met)" "" "0000504084" "00007156" "30" "1383" "0" "1383" "0" "c.1383G>A" "r.(?)" "p.(Pro461=)" "" "0000504085" "00007156" "50" "1069" "0" "1069" "0" "c.1069C>T" "r.(?)" "p.(Arg357Cys)" "" "0000504086" "00007156" "30" "741" "0" "741" "0" "c.741T>C" "r.(?)" "p.(Cys247=)" "" "0000504087" "00007156" "10" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(Asp232Gly)" "" "0000592088" "00007156" "50" "1814" "0" "1814" "0" "c.1814C>T" "r.(?)" "p.(Thr605Ile)" "" "0000592089" "00007156" "50" "1814" "0" "1814" "0" "c.1814C>T" "r.(?)" "p.(Thr605Ile)" "" "0000604976" "00007156" "50" "2671" "0" "2671" "0" "c.2671G>C" "r.(?)" "p.(Val891Leu)" "" "0000604977" "00007156" "30" "1061" "0" "1061" "0" "c.1061G>A" "r.(?)" "p.(Ser354Asn)" "" "0000620428" "00007156" "50" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Arg394Cys)" "" "0000647434" "00007156" "30" "2627" "0" "2627" "0" "c.2627G>A" "r.(?)" "p.(Arg876His)" "" "0000647435" "00007156" "50" "2239" "0" "2239" "0" "c.2239G>A" "r.(?)" "p.(Val747Ile)" "" "0000647436" "00007156" "30" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Thr511Met)" "" "0000647437" "00007156" "10" "824" "-11" "824" "-11" "c.824-11G>A" "r.(=)" "p.(=)" "" "0000653801" "00007156" "30" "1314" "0" "1314" "0" "c.1314G>A" "r.(?)" "p.(Glu438=)" "" "0000668972" "00007156" "30" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Thr511Met)" "" "0000668973" "00007156" "10" "824" "-11" "824" "-11" "c.824-11G>A" "r.(=)" "p.(=)" "" "0000675528" "00007156" "30" "1984" "0" "1984" "0" "c.1984G>A" "r.(?)" "p.(Gly662Ser)" "" "0000675529" "00007156" "30" "141" "0" "141" "0" "c.141G>A" "r.(?)" "p.(Pro47=)" "" "0000687933" "00007156" "30" "2700" "0" "2700" "0" "c.2700C>G" "r.(?)" "p.(Gly900=)" "" "0000687934" "00007156" "30" "2094" "0" "2094" "0" "c.2094G>A" "r.(?)" "p.(Gly698=)" "" "0000687935" "00007156" "30" "1857" "0" "1857" "0" "c.1857C>T" "r.(?)" "p.(Ile619=)" "" "0000716962" "00007156" "30" "2169" "0" "2169" "0" "c.2169C>T" "r.(?)" "p.(Ile723=)" "" "0000716963" "00007156" "30" "1813" "0" "1813" "0" "c.1813A>G" "r.(?)" "p.(Thr605Ala)" "" "0000716964" "00007156" "50" "1360" "0" "1360" "0" "c.1360G>A" "r.(?)" "p.(Val454Ile)" "" "0000716965" "00007156" "30" "174" "0" "174" "0" "c.174C>A" "r.(?)" "p.(Ile58=)" "" "0000797427" "00007156" "70" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl?" "p.(?)" "" "0000798889" "00007156" "50" "2581" "0" "2581" "0" "c.2581C>T" "r.(?)" "p.(Arg861Cys)" "" "0000798890" "00007156" "90" "1337" "0" "1337" "0" "c.1337dup" "r.(?)" "p.(Arg447Profs*7)" "" "0000798891" "00007156" "30" "1312" "6" "1312" "6" "c.1312+6G>C" "r.(=)" "p.(=)" "" "0000811357" "00007156" "70" "2825" "1" "2825" "1" "c.2825+1G>A" "r.spl" "p.(?)" "" "0000824264" "00007156" "70" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Pro584Leu)" "" "0000824307" "00007156" "70" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Pro584Leu)" "" "0000848371" "00007156" "30" "1986" "0" "1986" "0" "c.1986C>G" "r.(?)" "p.(Gly662=)" "" "0000848372" "00007156" "50" "1436" "0" "1436" "0" "c.1436C>T" "r.(?)" "p.(Ser479Phe)" "" "0000848373" "00007156" "50" "430" "0" "430" "0" "c.430A>G" "r.(?)" "p.(Thr144Ala)" "" "0000873487" "00007156" "70" "944" "0" "944" "0" "c.944G>A" "r.(?)" "p.(Arg315Gln)" "" "0000873539" "00007156" "70" "983" "0" "983" "0" "c.983C>A" "r.(?)" "p.(Pro328His)" "" "0000882903" "00007156" "50" "437" "0" "437" "0" "c.437C>T" "r.(?)" "p.(Ala146Val)" "" "0000882904" "00007156" "50" "410" "0" "410" "0" "c.410G>T" "r.(?)" "p.(Arg137Leu)" "" "0000921538" "00007156" "90" "2803" "0" "2803" "0" "c.2803A>T" "r.(?)" "p.(Lys935Ter)" "" "0000921565" "00007156" "50" "2800" "0" "2800" "0" "c.2800G>A" "r.(?)" "p.(Glu934Lys)" "" "0000921622" "00007156" "50" "1532" "0" "1532" "0" "c.1532C>T" "r.(?)" "p.(Thr511Met)" "" "0000921624" "00007156" "30" "2874" "0" "2874" "0" "c.2874C>T" "r.(?)" "p.(Ile958=)" "" "0000921625" "00007156" "30" "1983" "0" "1983" "0" "c.1983C>T" "r.(?)" "p.(Leu661=)" "" "0000921804" "00007156" "70" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "" "0000921805" "00007156" "50" "649" "0" "649" "0" "c.649G>C" "r.(?)" "p.(Gly217Arg)" "" "0000921854" "00007156" "90" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Pro584Leu)" "" "0000921869" "00007156" "90" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Pro584Leu)" "" "0000921870" "00007156" "90" "1751" "0" "1751" "0" "c.1751C>T" "r.(?)" "p.(Pro584Leu)" "" "0000944783" "00007156" "90" "1405" "0" "1405" "0" "c.1405T>C" "r.(?)" "p.(Tyr469His)" "" "0000953746" "00007156" "70" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "" "0000953747" "00007156" "70" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "" "0000953748" "00007156" "70" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "" "0000953749" "00007156" "70" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "" "0000954841" "00007156" "50" "1978" "0" "1978" "0" "c.1978T>G" "r.(?)" "p.(Phe660Val)" "" "0000954849" "00007156" "90" "1315" "0" "1315" "0" "c.1315C>T" "r.(?)" "p.(Pro439Ser)" "" "0000954893" "00007156" "90" "2007" "0" "2007" "0" "c.2007G>T" "r.(?)" "p.(Gln669His)" "" "0000954997" "00007156" "70" "1543" "0" "1543" "0" "c.1543C>T" "r.(?)" "p.(Gln515Ter)" "" "0000957386" "00007156" "90" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "16i" "0000957414" "00007156" "90" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "16i" "0001013235" "00007156" "90" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.(=)" "p.(=)" "" "0001013236" "00007156" "70" "1582" "2" "1582" "2" "c.1582+2T>G" "r.spl?" "p.?" "" "0001031445" "00007156" "50" "2162" "0" "2162" "0" "c.2162G>A" "r.(?)" "p.(Arg721Gln)" "" "0001031446" "00007156" "30" "1512" "0" "1512" "0" "c.1512G>T" "r.(?)" "p.(=)" "" "0001058057" "00007156" "70" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "" "0001058058" "00007156" "70" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "" "0001058107" "00007156" "70" "2826" "-9" "2826" "-9" "c.2826-9G>A" "r.spl" "p.?" "" "0001058226" "00007156" "70" "2819" "0" "2819" "0" "c.2819C>T" "r.(?)" "p.(Thr940Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000065192" "0000096859" "0000103587" "0000167021" "0000261961" "0000592088" "0000261962" "0000592089" "0000290745" "0000647434" "0000290746" "0000647435" "0000290747" "0000647436" "0000290748" "0000647437" "0000305284" "0000668972" "0000305285" "0000668973" "0000383366" "0000797427" "0000384611" "0000811357" "0000393502" "0000824264" "0000393537" "0000824307" "0000415646" "0000873487" "0000415683" "0000873539" "0000435537" "0000921538" "0000435543" "0000921565" "0000435596" "0000921624" "0000435596" "0000921625" "0000435599" "0000921622" "0000435643" "0000921804" "0000435644" "0000921805" "0000435681" "0000921854" "0000435696" "0000921869" "0000435697" "0000921870" "0000443370" "0000944783" "0000445612" "0000953746" "0000445613" "0000953747" "0000445614" "0000953748" "0000445615" "0000953749" "0000446487" "0000954841" "0000446505" "0000954849" "0000446549" "0000954893" "0000446644" "0000954997" "0000448006" "0000957386" "0000448034" "0000957414" "0000469976" "0001058057" "0000469977" "0001058058" "0000470026" "0001058107" "0000470139" "0001058226"