### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = EYA4) # 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}}" "EYA4" "eyes absent homolog 4 (Drosophila)" "6" "q23" "unknown" "NG_011596.2" "UD_132085363629" "" "https://www.LOVD.nl/EYA" "" "1" "3522" "2070" "603550" "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/EYA4_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-01-18 10:57:06" "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}}" "00007328" "EYA4" "transcript variant 1" "002" "NM_004100.4" "" "NP_004091.3" "" "" "" "-458" "5235" "1920" "133562495" "133853258" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "02351" "DFNA10" "deafness, autosomal dominant, type 10 (DFNA10)" "AD" "601316" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-19 10:21:06" "02543" "CMD1J" "cardiomyopathy, dilated, type 1J (CMD1J)" "AD" "605362" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-11-19 10:21:49" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "EYA4" "02351" "EYA4" "02543" ## Individuals ## Do not remove or alter this header ## ## Count = 48 "{{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}}" "00002993" "" "" "" "1" "" "00130" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "" "" "" "" "" "00019908" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}, {PMID:Stessman 2016:26942287}, {DOI:Stessman 2016:10.1016/j.ajhg.2016.02.004}" "" "M" "?" "Netherlands" "" "0" "" "" "" "" "00059025" "" "" "" "3" "" "01542" "Karen Avraham laboratory, Tel Aviv university, Israel, unpublished" "" "" "no" "Israel" "" "0" "" "" "Lybia;Jewish-Ashkenazi" "" "00059143" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00283252" "" "" "" "1" "" "00004" "{PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283253" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "" "" "0" "" "" "" "" "00283254" "" "" "" "1" "" "00004" "{PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283255" "" "" "" "1" "" "00004" "{PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283256" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283257" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283258" "" "" "" "1" "" "00004" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "0" "" "" "" "" "00283259" "" "" "" "1" "" "00004" "{PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283260" "" "" "" "1" "" "00004" "{PMID:Frykholm 2015:25681523}" "" "" "" "" "" "0" "" "" "" "" "00283261" "" "" "" "1" "" "00004" "{PMID:Maron 2003:14607462}, {PMID:Cirino 1993:20301725}, {PMID:Elliott 2014:25173338}" "" "" "" "" "" "0" "" "" "" "" "00283262" "" "" "" "1" "" "00004" "{PMID:Hershberger 1993:20301486}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283263" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283264" "" "" "" "1" "" "00004" "{PMID:Baek 2012:22938506}" "" "" "" "" "" "0" "" "" "" "" "00283265" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}, {PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283266" "" "" "" "1" "" "00004" "{PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283267" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283268" "" "" "" "5" "" "00004" "{PMID:Choi 2013:23990876}" "family, 5 affected" "" "" "Korea" "" "0" "" "" "" "SH20-47" "00283269" "" "" "" "1" "" "00004" "{PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283270" "" "" "" "1" "" "00004" "{PMID:Wayne 2001:11159937}" "" "" "" "" "" "0" "" "" "" "" "00283271" "" "" "" "1" "" "00004" "{PMID:Makishima 2007:17567890}" "" "" "" "" "" "0" "" "" "" "" "00283272" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283273" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283274" "" "" "" "1" "" "00004" "{PMID:Pfister 2002:12477971}" "" "" "" "" "" "0" "" "" "" "" "00283275" "" "" "" "1" "" "00004" "{PMID:Kim 2015:25781927}" "" "" "" "" "" "0" "" "" "" "" "00283276" "" "" "" "1" "" "00004" "{PMID:Hildebrand 2007:17568404}" "" "" "" "" "" "0" "" "" "" "" "00283277" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283278" "" "" "" "1" "" "00004" "{PMID:Tan 2014:25242383}" "" "" "" "" "" "0" "" "" "" "" "00283279" "" "" "" "1" "" "00004" "{PMID:Vona 2014:24875298}" "" "" "" "" "" "0" "" "" "" "" "00283280" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}, {PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283281" "" "" "" "1" "" "00004" "{PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283282" "" "" "" "1" "" "00004" "{PMID:Ng 2013:23861362}" "" "" "" "" "" "0" "" "" "" "" "00283283" "" "" "" "1" "" "00004" "{PMID:Wayne 2001:11159937}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283284" "" "" "" "1" "" "00004" "{PMID:Wayne 2001:11159937}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00283285" "" "" "" "1" "" "00004" "{PMID:Wayne 2001:11159937}, {PMID:Xiong 2015:25525159}" "" "" "" "" "" "0" "" "" "" "" "00283286" "" "" "" "1" "" "00004" "{PMID:Neveling 2013:24123792}" "" "" "" "" "" "0" "" "" "" "" "00320009" "" "" "" "5" "" "03848" "{PMID:Mi 2021:33301229}, {DOI:Mi 2021:10.1002/mgg3.1569}" "" "M" "no" "China" "" "0" "" "" "chinese" "" "00326996" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB302-604" "00361730" "" "" "" "5" "" "04042" "" "" "F" "yes" "China" "" "" "" "" "Han" "" "00377113" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "175355" "00441477" "" "" "" "5" "" "00006" "{PMID:Chen 2021:34956325}" "3-generation family, 5 affected (3F, 2M)" "F;M" "" "China" "" "0" "" "" "" "FamA" "00441478" "" "" "" "13" "" "00006" "{PMID:Chen 2021:34956325}" "3-generation family, 13 affected (*F, 5M)" "F;M" "" "China" "" "0" "" "" "" "FamB" "00441486" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "PAR057" "00446839" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat137" "00446871" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case solved" "" "" "" "" "0" "" "" "" "Pat183" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 30 "{{individualid}}" "{{diseaseid}}" "00002993" "00198" "00019908" "00139" "00059025" "02351" "00059143" "00531" "00283253" "00198" "00283258" "05086" "00283260" "05086" "00283261" "00198" "00283262" "00198" "00283264" "05086" "00283268" "05086" "00283270" "05103" "00283271" "05103" "00283274" "05103" "00283275" "05086" "00283276" "05103" "00283278" "05086" "00283279" "05086" "00283284" "05103" "00283285" "05103" "00283286" "05086" "00320009" "05103" "00326996" "00350" "00361730" "05086" "00377113" "02351" "00441477" "05086" "00441478" "05086" "00441486" "05086" "00446839" "04173" "00446871" "04173" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00350, 00531, 02351, 02543, 04173, 05086, 05103 ## Count = 29 "{{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}}" "0000001844" "00198" "00002993" "00130" "Familial, autosomal dominant" "" "progressive hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000017685" "00139" "00019908" "00705" "Isolated (sporadic)" "13y" "microcephaly (HP:0000252), feeding difficulties (HP:0011968), abnormality of vision (HP:0000252), no obesity (-HP:0001513); severe intellectual disability (HP:0010864); motor delay (HP:0001270); severe speech delay (HP:0000750)" "" "" "" "" "" "" "" "" "" "" "" "0000045614" "02351" "00059025" "01542" "Familial, autosomal dominant" "" "postlingual, onset 5-12y, progresses to severe-profound hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000216677" "00198" "00283253" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Branchio-otic syndrome, renal" "" "0000216678" "00198" "00283261" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Primary familial hypertrophic cardiomyopathy" "" "0000216679" "00198" "00283262" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "type 1J" "Dilated cardiomyopathy" "" "0000218189" "05086" "00283258" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218190" "05086" "00283260" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218191" "05086" "00283264" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218192" "05086" "00283268" "00008" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "hearing loss, sensorineural, non-syndromic" "" "0000218193" "05086" "00283275" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218194" "05086" "00283278" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss, non-syndromic, autosomal dominant" "" "0000218195" "05086" "00283279" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218196" "05086" "00283286" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Hearing loss" "" "0000218456" "05103" "00283270" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, late-onset" "" "0000218457" "05103" "00283271" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218458" "05103" "00283274" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218459" "05103" "00283276" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, sensorineural" "" "0000218460" "05103" "00283284" "00008" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "type 10" "deafness, autosomal dominant" "" "0000218461" "05103" "00283285" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, late-onset" "" "0000242053" "05103" "00320009" "03848" "Familial, autosomal dominant" "28y" "postlingual onset, progressive hearing loss" "" "28y" "" "" "" "" "" "" "" "" "" "0000257135" "05086" "00361730" "04042" "Familial, autosomal dominant" "52y" "non‐syndromic hearing loss" "42y" "52y" "" "" "" "" "" "" "" "non‐syndromic hearing loss" "" "0000272295" "02351" "00377113" "01164" "Familial, autosomal dominant" "01y" "Abnormality of the inner ear, Sensorineural hearing impairment, Functional abnormality of the inner ear" "" "" "" "" "" "" "" "" "" "" "" "0000330917" "05086" "00441477" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA10" "hearing loss" "" "0000330918" "05086" "00441478" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA10" "hearing loss" "" "0000330924" "05086" "00441486" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000336043" "04173" "00446839" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" "0000336075" "04173" "00446871" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular non-compaction" "" "0000337339" "00350" "00326996" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 48 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000002899" "00002993" "2" "00130" "00008" "2013-10-02 11:35:03" "" "" "SEQ" "DNA" "" "" "0000019900" "00019908" "1" "00705" "00705" "2014-09-17 10:10:38" "00006" "2014-11-08 10:58:44" "SEQ" "DNA" "" "" "0000058988" "00059025" "1" "01542" "01542" "2016-02-15 20:51:21" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000059116" "00059143" "1" "01551" "01551" "2016-02-29 10:00:54" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000284402" "00283252" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284403" "00283253" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284404" "00283254" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284405" "00283255" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284406" "00283256" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284407" "00283257" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284408" "00283258" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284409" "00283259" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284410" "00283260" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284411" "00283261" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284412" "00283262" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284413" "00283263" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284414" "00283264" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284415" "00283265" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284416" "00283266" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284417" "00283267" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284418" "00283268" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284419" "00283269" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284420" "00283270" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284421" "00283271" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284422" "00283272" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284423" "00283273" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284424" "00283274" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284425" "00283275" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284426" "00283276" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284427" "00283277" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284428" "00283278" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284429" "00283279" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284430" "00283280" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284431" "00283281" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284432" "00283282" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284433" "00283283" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284434" "00283284" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284435" "00283285" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000284436" "00283286" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000321192" "00320009" "1" "03848" "03848" "2020-11-19 06:28:36" "00006" "2020-11-19 10:19:59" "SEQ-NG-I" "DNA" "" "" "0000328209" "00326996" "1" "03611" "03611" "2021-01-18 09:33:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000362957" "00361730" "1" "04042" "04042" "2021-04-08 12:23:28" "" "" "arrayCNV" "DNA" "" "WGS，gene panel" "0000378318" "00377113" "1" "01164" "01164" "2021-07-05 16:16:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000442963" "00441477" "1" "00006" "00006" "2023-11-07 23:03:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442964" "00441478" "1" "00006" "00006" "2023-11-07 23:10:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442972" "00441486" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448414" "00446839" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000448446" "00446871" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{geneid}}" "0000002899" "EYA4" "0000019900" "CFAP61" "0000019900" "EYA4" "0000019900" "POGZ" "0000059116" "EYA4" "0000284402" "EYA4" "0000284403" "EYA4" "0000284404" "EYA4" "0000284405" "EYA4" "0000284406" "EYA4" "0000284407" "EYA4" "0000284408" "EYA4" "0000284409" "EYA4" "0000284410" "EYA4" "0000284411" "EYA4" "0000284412" "EYA4" "0000284413" "EYA4" "0000284414" "EYA4" "0000284415" "EYA4" "0000284416" "EYA4" "0000284417" "EYA4" "0000284418" "EYA4" "0000284419" "EYA4" "0000284420" "EYA4" "0000284421" "EYA4" "0000284422" "EYA4" "0000284423" "EYA4" "0000284424" "EYA4" "0000284425" "EYA4" "0000284426" "EYA4" "0000284427" "EYA4" "0000284428" "EYA4" "0000284429" "EYA4" "0000284430" "EYA4" "0000284431" "EYA4" "0000284432" "EYA4" "0000284433" "EYA4" "0000284434" "EYA4" "0000284435" "EYA4" "0000284436" "EYA4" "0000321192" "EYA4" "0000362957" "EYA4" "0000378318" "EYA4" ## 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 = 142 "{{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}}" "0000021264" "1" "50" "6" "133783499" "133783499" "del" "0" "00130" "EYA4_000003" "g.133783499del" "" "{PMID:Neveling 2013:24123792}" "" "" "segregation will show which variant is causative" "Unknown" "?" "" "" "" "" "g.133462361del" "" "VUS" "" "0000021265" "2" "50" "6" "133846363" "133846363" "subst" "4.06534E-6" "00130" "EYA4_000002" "g.133846363G>T" "" "{PMID:Neveling 2013:24123792}" "" "" "segregation will show which variant is causative" "Unknown" "?" "" "" "" "" "g.133525225G>T" "" "VUS" "" "0000040386" "0" "30" "6" "133777699" "133777699" "subst" "0" "00705" "EYA4_000001" "g.133777699C>G" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "" "" "0" "" "" "g.133456561C>G" "" "likely benign" "" "0000089789" "21" "90" "6" "133783476" "133783476" "del" "0" "01542" "EYA4_000004" "g.133783476del" "1/156 patients" "" "" "439delC" "0/195 controls" "Germline" "yes" "" "0" "" "" "g.133462338del" "" "pathogenic" "" "0000089913" "0" "50" "6" "133804173" "133804173" "subst" "0" "01551" "EYA4_000005" "g.133804173G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.133483035G>A" "" "VUS" "" "0000248269" "0" "30" "6" "133833915" "133833915" "subst" "2.43726E-5" "02325" "EYA4_000024" "g.133833915A>G" "" "" "" "EYA4(NM_004100.4):c.1338A>G (p.L446=), EYA4(NM_004100.5):c.1338A>G (p.L446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133512777A>G" "" "likely benign" "" "0000251715" "0" "30" "6" "133833915" "133833915" "subst" "2.43726E-5" "02326" "EYA4_000024" "g.133833915A>G" "" "" "" "EYA4(NM_004100.4):c.1338A>G (p.L446=), EYA4(NM_004100.5):c.1338A>G (p.L446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133512777A>G" "" "likely benign" "" "0000256385" "0" "50" "6" "133789860" "133789860" "subst" "2.03814E-5" "01943" "EYA4_000019" "g.133789860A>G" "" "" "" "EYA4(NM_004100.4):c.961A>G (p.N321D), EYA4(NM_004100.5):c.961A>G (p.N321D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133468722A>G" "" "VUS" "" "0000267924" "0" "30" "6" "133849868" "133849868" "subst" "0.0117735" "02325" "EYA4_000027" "g.133849868C>T" "" "" "" "EYA4(NM_004100.4):c.1845C>T (p.N615=), EYA4(NM_004100.5):c.1845C>T (p.N615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133528730C>T" "" "likely benign" "" "0000267925" "0" "30" "6" "133777740" "133777740" "subst" "8.12572E-6" "02325" "EYA4_000010" "g.133777740C>G" "" "" "" "EYA4(NM_004100.5):c.324C>G (p.T108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133456602C>G" "" "likely benign" "" "0000267926" "0" "30" "6" "133777764" "133777764" "subst" "1.62553E-5" "02325" "EYA4_000011" "g.133777764G>A" "" "" "" "EYA4(NM_004100.5):c.348G>A (p.A116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133456626G>A" "" "likely benign" "" "0000267927" "0" "30" "6" "133783629" "133783631" "del" "0" "02325" "EYA4_000012" "g.133783629_133783631del" "" "" "" "EYA4(NM_004100.5):c.580+14_580+16delTCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133462491_133462493del" "" "likely benign" "" "0000267928" "0" "30" "6" "133786013" "133786013" "subst" "0.0039384" "02325" "EYA4_000014" "g.133786013T>C" "" "" "" "EYA4(NM_004100.5):c.804+17T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133464875T>C" "" "likely benign" "" "0000267929" "0" "10" "6" "133789728" "133789728" "subst" "0.331893" "02325" "EYA4_000015" "g.133789728G>A" "" "" "" "EYA4(NM_004100.4):c.829G>A (p.G277S), EYA4(NM_004100.5):c.829G>A (p.G277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133468590G>A" "" "benign" "" "0000267930" "0" "30" "6" "133789778" "133789778" "subst" "0" "02325" "EYA4_000017" "g.133789778T>C" "" "" "" "EYA4(NM_004100.5):c.879T>C (p.Y293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133468640T>C" "" "likely benign" "" "0000267931" "0" "30" "6" "133789787" "133789787" "subst" "6.11332E-5" "02325" "EYA4_000018" "g.133789787G>A" "" "" "" "EYA4(NM_004100.4):c.888G>A (p.S296=), EYA4(NM_004100.5):c.888G>A (p.S296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133468649G>A" "" "likely benign" "" "0000267932" "0" "30" "6" "133802594" "133802594" "subst" "4.09216E-6" "02325" "EYA4_000020" "g.133802594T>C" "" "" "" "EYA4(NM_004100.5):c.971-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133481456T>C" "" "likely benign" "" "0000271274" "0" "30" "6" "133802665" "133802665" "subst" "0.000456119" "02326" "EYA4_000023" "g.133802665G>C" "" "" "" "EYA4(NM_004100.4):c.1035G>C (p.R345S), EYA4(NM_004100.5):c.1035G>C (p.R345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133481527G>C" "" "likely benign" "" "0000271275" "0" "30" "6" "133844183" "133844183" "subst" "0.000244264" "02326" "EYA4_000025" "g.133844183C>T" "" "" "" "EYA4(NM_004100.5):c.1617-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133523045C>T" "" "likely benign" "" "0000271276" "0" "30" "6" "133846199" "133846199" "subst" "0" "02326" "EYA4_000026" "g.133846199C>A" "" "" "" "EYA4(NM_172105.3):c.1785C>A (p.N595K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133525061C>A" "" "likely benign" "" "0000271277" "0" "10" "6" "133849868" "133849868" "subst" "0.0117735" "02326" "EYA4_000027" "g.133849868C>T" "" "" "" "EYA4(NM_004100.4):c.1845C>T (p.N615=), EYA4(NM_004100.5):c.1845C>T (p.N615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133528730C>T" "" "benign" "" "0000271278" "0" "50" "6" "133849911" "133849911" "subst" "0" "02326" "EYA4_000028" "g.133849911C>G" "" "" "" "EYA4(NM_004100.5):c.1888C>G (p.L630V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133528773C>G" "" "VUS" "" "0000271279" "0" "30" "6" "133767899" "133767899" "subst" "0" "02326" "EYA4_000007" "g.133767899G>T" "" "" "" "EYA4(NM_004100.5):c.208+7G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133446761G>T" "" "likely benign" "" "0000271280" "0" "50" "6" "133769302" "133769302" "subst" "8.12301E-6" "02326" "EYA4_000008" "g.133769302C>A" "" "" "" "EYA4(NM_004100.5):c.262C>A (p.P88T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133448164C>A" "" "VUS" "" "0000271281" "0" "30" "6" "133769326" "133769326" "subst" "0.000174669" "02326" "EYA4_000009" "g.133769326G>A" "" "" "" "EYA4(NM_004100.4):c.277+9G>A, EYA4(NM_004100.5):c.277+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133448188G>A" "" "likely benign" "" "0000271282" "0" "50" "6" "133783798" "133783798" "subst" "0" "02326" "EYA4_000013" "g.133783798G>C" "" "" "" "EYA4(NM_004100.5):c.620G>C (p.G207A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133462660G>C" "" "VUS" "" "0000271283" "0" "30" "6" "133789765" "133789765" "subst" "0.000655837" "02326" "EYA4_000016" "g.133789765C>T" "" "" "" "EYA4(NM_004100.4):c.866C>T (p.T289M), EYA4(NM_004100.5):c.866C>T (p.T289M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133468627C>T" "" "likely benign" "" "0000271284" "0" "30" "6" "133802617" "133802617" "subst" "0.000301964" "02326" "EYA4_000022" "g.133802617G>T" "" "" "" "EYA4(NM_004100.4):c.987G>T (p.M329I), EYA4(NM_004100.5):c.987G>T (p.M329I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133481479G>T" "" "likely benign" "" "0000276464" "0" "30" "6" "133802665" "133802665" "subst" "0.000456119" "01943" "EYA4_000023" "g.133802665G>C" "" "" "" "EYA4(NM_004100.4):c.1035G>C (p.R345S), EYA4(NM_004100.5):c.1035G>C (p.R345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133481527G>C" "" "likely benign" "" "0000276465" "0" "50" "6" "133767818" "133767818" "subst" "0" "01943" "EYA4_000006" "g.133767818G>A" "" "" "" "EYA4(NM_004100.4):c.134G>A (p.G45D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133446680G>A" "" "VUS" "" "0000276466" "0" "30" "6" "133849868" "133849868" "subst" "0.0117735" "01943" "EYA4_000027" "g.133849868C>T" "" "" "" "EYA4(NM_004100.4):c.1845C>T (p.N615=), EYA4(NM_004100.5):c.1845C>T (p.N615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133528730C>T" "" "likely benign" "" "0000276467" "0" "10" "6" "133789728" "133789728" "subst" "0.331893" "01943" "EYA4_000015" "g.133789728G>A" "" "" "" "EYA4(NM_004100.4):c.829G>A (p.G277S), EYA4(NM_004100.5):c.829G>A (p.G277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133468590G>A" "" "benign" "" "0000276468" "0" "30" "6" "133802609" "133802609" "subst" "0.000518732" "01943" "EYA4_000021" "g.133802609G>A" "" "" "" "EYA4(NM_004100.4):c.979G>A (p.D327N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133481471G>A" "" "likely benign" "" "0000337155" "0" "10" "6" "133849966" "133849966" "subst" "0.442863" "02327" "EYA4_000033" "g.133849966C>T" "" "" "" "EYA4(NM_004100.5):c.*23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133528828C>T" "" "benign" "" "0000339403" "0" "30" "6" "133833915" "133833915" "subst" "2.43726E-5" "02327" "EYA4_000024" "g.133833915A>G" "" "" "" "EYA4(NM_004100.4):c.1338A>G (p.L446=), EYA4(NM_004100.5):c.1338A>G (p.L446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133512777A>G" "" "likely benign" "" "0000343803" "0" "10" "6" "133849868" "133849868" "subst" "0.0117735" "02327" "EYA4_000027" "g.133849868C>T" "" "" "" "EYA4(NM_004100.4):c.1845C>T (p.N615=), EYA4(NM_004100.5):c.1845C>T (p.N615=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133528730C>T" "" "benign" "" "0000344659" "0" "90" "6" "133783812" "133783812" "subst" "0" "02327" "EYA4_000030" "g.133783812C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133462674C>T" "" "pathogenic" "" "0000345944" "0" "10" "6" "133789728" "133789728" "subst" "0.331893" "02327" "EYA4_000015" "g.133789728G>A" "" "" "" "EYA4(NM_004100.4):c.829G>A (p.G277S), EYA4(NM_004100.5):c.829G>A (p.G277S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133468590G>A" "" "benign" "" "0000347209" "0" "50" "6" "133836546" "133836546" "subst" "0" "02327" "EYA4_000032" "g.133836546T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133515408T>G" "" "VUS" "" "0000349417" "0" "50" "6" "133789765" "133789765" "subst" "0.000655837" "02327" "EYA4_000016" "g.133789765C>T" "" "" "" "EYA4(NM_004100.4):c.866C>T (p.T289M), EYA4(NM_004100.5):c.866C>T (p.T289M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133468627C>T" "" "VUS" "" "0000349967" "0" "90" "6" "133783613" "133783613" "dup" "0" "02327" "EYA4_000029" "g.133783613dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133462475dup" "" "pathogenic" "" "0000527224" "0" "30" "6" "133769326" "133769326" "subst" "0.000174669" "01943" "EYA4_000009" "g.133769326G>A" "" "" "" "EYA4(NM_004100.4):c.277+9G>A, EYA4(NM_004100.5):c.277+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133448188G>A" "" "likely benign" "" "0000527225" "0" "50" "6" "133777721" "133777721" "subst" "0" "01943" "EYA4_000034" "g.133777721C>T" "" "" "" "EYA4(NM_004100.4):c.305C>T (p.P102L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133456583C>T" "" "VUS" "" "0000527226" "0" "50" "6" "133777748" "133777748" "subst" "4.06299E-6" "02327" "EYA4_000035" "g.133777748C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133456610C>T" "" "VUS" "" "0000527227" "0" "50" "6" "133782260" "133782260" "subst" "2.84671E-5" "02327" "EYA4_000036" "g.133782260A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133461122A>G" "" "VUS" "" "0000527228" "0" "50" "6" "133782296" "133782296" "subst" "2.8472E-5" "01943" "EYA4_000037" "g.133782296T>A" "" "" "" "EYA4(NM_004100.4):c.415T>A (p.S139T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133461158T>A" "" "VUS" "" "0000527229" "0" "50" "6" "133783573" "133783573" "subst" "0" "01943" "EYA4_000038" "g.133783573G>A" "" "" "" "EYA4(NM_004100.4):c.538G>A (p.A180T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133462435G>A" "" "VUS" "" "0000527230" "0" "30" "6" "133783623" "133783623" "subst" "8.96496E-5" "02326" "EYA4_000039" "g.133783623A>C" "" "" "" "EYA4(NM_004100.5):c.580+8A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133462485A>C" "" "likely benign" "" "0000527231" "0" "30" "6" "133785975" "133785975" "subst" "0.00124806" "01943" "EYA4_000040" "g.133785975G>A" "" "" "" "EYA4(NM_004100.4):c.783G>A (p.T261=), EYA4(NM_004100.5):c.783G>A (p.T261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133464837G>A" "" "likely benign" "" "0000527232" "0" "30" "6" "133785975" "133785975" "subst" "0.00124806" "02325" "EYA4_000040" "g.133785975G>A" "" "" "" "EYA4(NM_004100.4):c.783G>A (p.T261=), EYA4(NM_004100.5):c.783G>A (p.T261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133464837G>A" "" "likely benign" "" "0000527233" "0" "30" "6" "133785975" "133785975" "subst" "0.00124806" "02326" "EYA4_000040" "g.133785975G>A" "" "" "" "EYA4(NM_004100.4):c.783G>A (p.T261=), EYA4(NM_004100.5):c.783G>A (p.T261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133464837G>A" "" "likely benign" "" "0000527234" "0" "30" "6" "133789712" "133789712" "subst" "1.62877E-5" "02326" "EYA4_000041" "g.133789712A>G" "" "" "" "EYA4(NM_004100.5):c.813A>G (p.P271=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133468574A>G" "" "likely benign" "" "0000527235" "0" "50" "6" "133789737" "133789737" "subst" "2.8506E-5" "01943" "EYA4_000042" "g.133789737C>A" "" "" "" "EYA4(NM_004100.4):c.838C>A (p.Q280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133468599C>A" "" "VUS" "" "0000527236" "0" "30" "6" "133789787" "133789787" "subst" "6.11332E-5" "01943" "EYA4_000018" "g.133789787G>A" "" "" "" "EYA4(NM_004100.4):c.888G>A (p.S296=), EYA4(NM_004100.5):c.888G>A (p.S296=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133468649G>A" "" "likely benign" "" "0000527237" "0" "30" "6" "133789860" "133789860" "subst" "2.03814E-5" "02326" "EYA4_000019" "g.133789860A>G" "" "" "" "EYA4(NM_004100.4):c.961A>G (p.N321D), EYA4(NM_004100.5):c.961A>G (p.N321D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133468722A>G" "" "likely benign" "" "0000527238" "0" "30" "6" "133789883" "133789883" "subst" "4.08143E-6" "01943" "EYA4_000043" "g.133789883C>A" "" "" "" "EYA4(NM_001301013.1):c.984C>A (p.H328Q), EYA4(NM_001301013.2):c.984C>A (p.H328Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133468745C>A" "" "likely benign" "" "0000527239" "0" "50" "6" "133789883" "133789883" "subst" "4.08143E-6" "02325" "EYA4_000043" "g.133789883C>A" "" "" "" "EYA4(NM_001301013.1):c.984C>A (p.H328Q), EYA4(NM_001301013.2):c.984C>A (p.H328Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133468745C>A" "" "VUS" "" "0000527240" "0" "30" "6" "133827274" "133827274" "subst" "0.000105697" "02326" "EYA4_000044" "g.133827274C>T" "" "" "" "EYA4(NM_004100.5):c.1222C>T (p.R408C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133506136C>T" "" "likely benign" "" "0000527241" "0" "50" "6" "133834039" "133834039" "subst" "0" "02326" "EYA4_000045" "g.133834039G>T" "" "" "" "EYA4(NM_004100.5):c.1364G>T (p.G455V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133512901G>T" "" "VUS" "" "0000527242" "0" "70" "6" "133834106" "133834106" "subst" "0" "02327" "EYA4_000046" "g.133834106G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133512968G>A" "" "likely pathogenic" "" "0000527243" "0" "30" "6" "133836453" "133836453" "subst" "0" "02326" "EYA4_000047" "g.133836453T>C" "" "" "" "EYA4(NM_004100.5):c.1502-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133515315T>C" "" "likely benign" "" "0000527244" "0" "30" "6" "133846244" "133846244" "subst" "6.51042E-5" "01943" "EYA4_000048" "g.133846244C>T" "" "" "" "EYA4(NM_172105.3):c.1830C>T (p.A610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133525106C>T" "" "likely benign" "" "0000527245" "0" "50" "6" "133846363" "133846363" "subst" "4.06534E-6" "02326" "EYA4_000002" "g.133846363G>T" "" "" "" "EYA4(NM_004100.5):c.1810G>T (p.G604C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133525225G>T" "" "VUS" "" "0000527246" "0" "90" "6" "133846394" "133846394" "subst" "0" "02327" "EYA4_000049" "g.133846394T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133525256T>G" "" "pathogenic" "" "0000610028" "0" "30" "6" "133595850" "133595850" "subst" "0" "01943" "EYA4_000050" "g.133595850T>G" "" "" "" "EYA4(NM_004100.4):c.-65-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133274712T>G" "" "likely benign" "" "0000610029" "0" "30" "6" "133767820" "133767820" "subst" "0" "02327" "EYA4_000052" "g.133767820G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133446682G>A" "" "likely benign" "" "0000610030" "0" "90" "6" "133785991" "133785991" "subst" "0" "01943" "EYA4_000053" "g.133785991C>T" "" "" "" "EYA4(NM_004100.4):c.799C>T (p.Q267*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133464853C>T" "" "pathogenic" "" "0000610031" "0" "30" "6" "133789765" "133789765" "subst" "0.000655837" "01943" "EYA4_000016" "g.133789765C>T" "" "" "" "EYA4(NM_004100.4):c.866C>T (p.T289M), EYA4(NM_004100.5):c.866C>T (p.T289M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133468627C>T" "" "likely benign" "" "0000610032" "0" "30" "6" "133802665" "133802665" "subst" "0.000456119" "02327" "EYA4_000023" "g.133802665G>C" "" "" "" "EYA4(NM_004100.4):c.1035G>C (p.R345S), EYA4(NM_004100.5):c.1035G>C (p.R345S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133481527G>C" "" "likely benign" "" "0000610033" "0" "90" "6" "133827252" "133827252" "dup" "0" "02327" "EYA4_000054" "g.133827252dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133506114dup" "" "pathogenic" "" "0000610034" "0" "50" "6" "133827274" "133827274" "subst" "0.000105697" "02327" "EYA4_000044" "g.133827274C>T" "" "" "" "EYA4(NM_004100.5):c.1222C>T (p.R408C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133506136C>T" "" "VUS" "" "0000610035" "0" "50" "6" "133834126" "133834126" "subst" "0" "02327" "EYA4_000056" "g.133834126G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133512988G>A" "" "VUS" "" "0000621637" "0" "30" "6" "133767807" "133767807" "subst" "0" "01943" "EYA4_000051" "g.133767807T>C" "" "" "" "EYA4(NM_004100.4):c.123T>C (p.L41=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133446669T>C" "" "likely benign" "" "0000621638" "0" "30" "6" "133834022" "133834022" "subst" "0" "01943" "EYA4_000055" "g.133834022C>T" "" "" "" "EYA4(NM_004100.4):c.1347C>T (p.Y449=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133512884C>T" "" "likely benign" "" "0000640144" "1" "55" "6" "133595920" "133595920" "subst" "8.13226E-6" "00004" "EYA4_000057" "g.133595920T>C" "" "{DB:DVD}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133274782T>C" "" "VUS" "" "0000640145" "1" "99" "6" "133767836" "133767836" "subst" "6.09281E-5" "00004" "EYA4_000058" "g.133767836C>T" "" "{DB:DVD}, {PMID:Sloan-Heggen 2016:26969326}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133446698C>T" "" "pathogenic" "" "0000640146" "1" "55" "6" "133769255" "133769255" "subst" "4.06167E-6" "00004" "EYA4_000059" "g.133769255A>G" "" "{DB:DVD}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133448117A>G" "" "VUS" "" "0000640147" "1" "55" "6" "133769273" "133769273" "subst" "4.06151E-6" "00004" "EYA4_000060" "g.133769273C>G" "" "{DB:DVD}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133448135C>G" "" "VUS" "" "0000640148" "1" "33" "6" "133769277" "133769277" "subst" "4.06141E-6" "00004" "EYA4_000061" "g.133769277A>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133448139A>G" "" "likely benign" "" "0000640149" "1" "55" "6" "133769303" "133769303" "subst" "1.62458E-5" "00004" "EYA4_000062" "g.133769303C>G" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133448165C>G" "" "VUS" "" "0000640150" "1" "77" "6" "133783499" "133783499" "del" "0" "00004" "EYA4_000003" "g.133783499del" "" "{DB:DVD}, {PMID:Neveling 2013:24123792}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133462361del" "" "likely pathogenic" "" "0000640151" "1" "55" "6" "133783598" "133783598" "subst" "0" "00004" "EYA4_000063" "g.133783598A>G" "" "{DB:DVD}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133462460A>G" "" "VUS" "" "0000640152" "1" "99" "6" "133783614" "133783615" "ins" "0" "00004" "EYA4_000064" "g.133783614_133783615insTACC" "" "{DB:DVD}, {PMID:Frykholm 2015:25681523}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133462476_133462477insTACC" "" "pathogenic" "" "0000640153" "1" "55" "6" "133783840" "133783840" "subst" "0" "00004" "EYA4_000065" "g.133783840G>A" "" "{DB:DVD}, {PMID:Maron 2003:14607462}, {PMID:Cirino 1993:20301725}, {PMID:Elliott 2014:25173338}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133462702G>A" "" "VUS" "" "0000640154" "1" "33" "6" "133785936" "133785936" "subst" "4.07907E-6" "00004" "EYA4_000066" "g.133785936A>G" "" "{DB:DVD}, {PMID:Hershberger 1993:20301486}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133464798A>G" "" "likely benign" "" "0000640155" "1" "33" "6" "133789692" "133789692" "subst" "1.62989E-5" "00004" "EYA4_000067" "g.133789692T>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133468554T>C" "" "likely benign" "" "0000640156" "1" "99" "6" "133789762" "133789762" "subst" "0" "00004" "EYA4_000068" "g.133789762C>A" "" "{DB:DVD}, {PMID:Baek 2012:22938506}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133468624C>A" "" "pathogenic" "" "0000640157" "1" "55" "6" "133789765" "133789765" "subst" "0.000655837" "00004" "EYA4_000016" "g.133789765C>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133468627C>T" "" "VUS" "" "0000640158" "1" "55" "6" "133789786" "133789786" "subst" "2.44527E-5" "00004" "EYA4_000069" "g.133789786C>T" "" "{DB:DVD}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133468648C>T" "" "VUS" "" "0000640159" "1" "55" "6" "133789806" "133789807" "ins" "0" "00004" "EYA4_000070" "g.133789806_133789807insTGGCAA" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133468668_133468669insTGGCAA" "" "VUS" "" "0000640160" "1" "90" "6" "133802608" "133802608" "subst" "4.0854E-5" "00004" "EYA4_000071" "g.133802608C>G" "" "{PMID:Choi 2013:23990876}" "" "" "" "Germline" "yes" "" "0" "" "C909G (F303L)" "g.133481470C>G" "" "pathogenic (dominant)" "" "0000640161" "1" "55" "6" "133802609" "133802609" "subst" "0.000518732" "00004" "EYA4_000021" "g.133802609G>A" "" "{DB:DVD}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133481471G>A" "" "VUS" "" "0000640162" "1" "99" "6" "133802656" "133802657" "dup" "0" "00004" "EYA4_000072" "g.133802656_133802657dup" "" "{DB:DVD}, {PMID:Wayne 2001:11159937}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133481518_133481519dup" "" "pathogenic" "" "0000640163" "1" "99" "6" "133802678" "133802679" "dup" "0" "00004" "EYA4_000073" "g.133802678_133802679dup" "" "{DB:DVD}, {PMID:Makishima 2007:17567890}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133481540_133481541dup" "" "pathogenic" "" "0000640164" "1" "55" "6" "133802727" "133802727" "subst" "0" "00004" "EYA4_000074" "g.133802727G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133481589G>A" "" "VUS" "" "0000640165" "1" "55" "6" "133804171" "133804171" "subst" "4.06686E-5" "00004" "EYA4_000075" "g.133804171G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133483033G>A" "" "VUS" "" "0000640166" "1" "99" "6" "133804177" "133804180" "dup" "0" "00004" "EYA4_000076" "g.133804177_133804180dup" "" "{DB:DVD}, {PMID:Pfister 2002:12477971}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133483039_133483042dup" "" "pathogenic" "" "0000640167" "1" "99" "6" "133804239" "133804239" "subst" "4.06663E-6" "00004" "EYA4_000077" "g.133804239C>T" "" "{DB:DVD}, {PMID:Kim 2015:25781927}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133483101C>T" "" "pathogenic" "" "0000640168" "1" "99" "6" "133833847" "133833847" "subst" "0" "00004" "EYA4_000078" "g.133833847T>A" "" "{DB:DVD}, {PMID:Hildebrand 2007:17568404}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133512709T>A" "" "pathogenic" "" "0000640169" "1" "55" "6" "133833871" "133833871" "subst" "2.03214E-5" "00004" "EYA4_000079" "g.133833871G>C" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133512733G>C" "" "VUS" "" "0000640170" "1" "99" "6" "133833878" "133833878" "subst" "0" "00004" "EYA4_000080" "g.133833878T>A" "" "{DB:DVD}, {PMID:Tan 2014:25242383}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133512740T>A" "" "pathogenic" "" "0000640171" "1" "99" "6" "133833997" "133833997" "subst" "0" "00004" "EYA4_000081" "g.133833997T>A" "" "{DB:DVD}, {PMID:Vona 2014:24875298}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133512859T>A" "" "pathogenic" "" "0000640172" "1" "55" "6" "133834093" "133834093" "subst" "0.000231528" "00004" "EYA4_000082" "g.133834093G>T" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133512955G>T" "" "VUS" "" "0000640173" "1" "55" "6" "133836560" "133836560" "subst" "8.12269E-6" "00004" "EYA4_000083" "g.133836560A>G" "" "{DB:DVD}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133515422A>G" "" "VUS" "" "0000640174" "1" "55" "6" "133844262" "133844262" "subst" "1.62817E-5" "00004" "EYA4_000084" "g.133844262A>G" "" "{DB:DVD}, {PMID:Ng 2013:23861362}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133523124A>G" "" "VUS" "" "0000640175" "1" "55" "6" "133846207" "133846211" "del" "0" "00004" "EYA4_000085" "g.133846207_133846211del" "" "{DB:DVD}, {PMID:Wayne 2001:11159937}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133525069_133525073del" "" "VUS" "" "0000640176" "1" "77" "6" "133846291" "133846291" "subst" "0" "00004" "EYA4_000086" "g.133846291G>A" "" "{DB:DVD}, {PMID:Wayne 2001:11159937}, {PMID:Shearer 1993:20301607}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133525153G>A" "" "likely pathogenic" "" "0000640177" "1" "99" "6" "133846312" "133846312" "subst" "0" "00004" "EYA4_000087" "g.133846312C>T" "" "{DB:DVD}, {PMID:Wayne 2001:11159937}, {PMID:Xiong 2015:25525159}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133525174C>T" "" "pathogenic" "" "0000640178" "1" "77" "6" "133846363" "133846363" "subst" "4.06534E-6" "00004" "EYA4_000002" "g.133846363G>T" "" "{DB:DVD}, {PMID:Neveling 2013:24123792}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.133525225G>T" "" "likely pathogenic" "" "0000655485" "0" "70" "6" "133777753" "133777766" "del" "0" "02326" "EYA4_000088" "g.133777753_133777766del" "" "" "" "EYA4(NM_004100.5):c.337_350delGGAGATGGAGCGCT (p.G113*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133456615_133456628del" "" "likely pathogenic" "" "0000677625" "0" "50" "6" "133833896" "133833896" "subst" "0" "02327" "EYA4_000089" "g.133833896A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000677626" "0" "30" "6" "133833915" "133833915" "subst" "2.43726E-5" "01943" "EYA4_000024" "g.133833915A>G" "" "" "" "EYA4(NM_004100.4):c.1338A>G (p.L446=), EYA4(NM_004100.5):c.1338A>G (p.L446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677627" "0" "30" "6" "133846349" "133846349" "subst" "0" "02327" "EYA4_000090" "g.133846349T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677628" "0" "70" "6" "133849862" "133849862" "subst" "0" "01804" "EYA4_000091" "g.133849862G>C" "" "" "" "EYA4(NM_004100.4):c.1840-1G>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000703998" "11" "90" "6" "133783578" "133783578" "subst" "0" "03848" "EYA4_000092" "g.133783578C>G" "" "{PMID:Mi 2021:33301229}, {DOI:Mi 2021:10.1002/mgg3.1569}" "" "" "" "Germline" "" "" "0" "" "" "g.133462440C>G" "" "pathogenic" "" "0000712146" "0" "70" "6" "133783875" "133783875" "subst" "0" "03611" "EYA4_000093" "g.133783875C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PVS1, PM2" "Germline/De novo (untested)" "" "" "0" "" "" "g.133462737C>T" "" "likely pathogenic (dominant)" "ACMG" "0000720676" "0" "30" "6" "133777689" "133777689" "subst" "1.62569E-5" "01943" "EYA4_000094" "g.133777689C>T" "" "" "" "EYA4(NM_004100.4):c.278-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720677" "0" "30" "6" "133777690" "133777690" "subst" "4.06458E-5" "02326" "EYA4_000095" "g.133777690G>A" "" "" "" "EYA4(NM_004100.5):c.278-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720678" "0" "30" "6" "133802617" "133802617" "subst" "0.000301964" "01943" "EYA4_000022" "g.133802617G>T" "" "" "" "EYA4(NM_004100.4):c.987G>T (p.M329I), EYA4(NM_004100.5):c.987G>T (p.M329I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000720679" "0" "30" "6" "133834098" "133834098" "subst" "0" "01943" "EYA4_000096" "g.133834098G>A" "" "" "" "EYA4(NM_004100.4):c.1423G>A (p.V475I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763349" "11" "90" "6" "133782552" "133792263" "del" "0" "04042" "EYA4_000097" "g.133782552_133792263del" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.133461414_133471125del" "" "pathogenic (dominant)" "" "0000791040" "0" "50" "6" "133703555" "133703555" "subst" "8.132E-6" "01164" "EYA4_000098" "g.133703555A>G" "" "" "" "" "ACMG: PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "" "VUS" "ACMG" "0000802318" "0" "30" "6" "133777803" "133777803" "subst" "0" "02326" "EYA4_000099" "g.133777803G>C" "" "" "" "EYA4(NM_004100.5):c.370+17G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000802319" "0" "50" "6" "133783605" "133783605" "subst" "0" "02326" "EYA4_000100" "g.133783605G>T" "" "" "" "EYA4(NM_004100.5):c.570G>T (p.L190F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851073" "0" "50" "6" "133804179" "133804179" "subst" "0" "01943" "EYA4_000102" "g.133804179G>T" "" "" "" "EYA4(NM_004100.4):c.1117G>T (p.V373F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860171" "0" "50" "6" "133769278" "133769278" "subst" "0" "01943" "EYA4_000101" "g.133769278G>A" "" "" "" "EYA4(NM_004100.4):c.238G>A (p.D80N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860172" "0" "50" "6" "133836480" "133836480" "subst" "6.90596E-5" "01943" "EYA4_000103" "g.133836480G>A" "" "" "" "EYA4(NM_004100.4):c.1523G>A (p.R508K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912407" "0" "10" "6" "133849966" "133849966" "subst" "0.442863" "02325" "EYA4_000033" "g.133849966C>T" "" "" "" "EYA4(NM_004100.5):c.*23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924431" "0" "50" "6" "133767773" "133767773" "subst" "8.12367E-6" "02327" "EYA4_000105" "g.133767773T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929151" "0" "90" "6" "133802651" "133802651" "subst" "0" "02327" "EYA4_000106" "g.133802651G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000944321" "1" "70" "6" "133783615" "133783615" "subst" "4.06845E-6" "00006" "EYA4_000107" "g.133783615G>A" "" "{PMID:Chen 2021:34956325}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.133462477G>A" "" "VUS" "" "0000944322" "1" "70" "6" "133836576" "133836576" "subst" "0" "00006" "EYA4_000108" "g.133836576A>G" "" "{PMID:Chen 2021:34956325}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.133515438A>G" "" "VUS" "" "0000944331" "0" "70" "6" "0" "0" "" "" "00006" "LAMA2_000000" "g.?" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000948655" "0" "30" "6" "133769264" "133769264" "subst" "0" "02327" "EYA4_000109" "g.133769264T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957853" "0" "70" "6" "133827275" "133827275" "subst" "2.8459E-5" "00006" "EYA4_000110" "g.133827275G>A" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.133506137G>A" "" "likely pathogenic" "" "0000957913" "0" "50" "6" "133789765" "133789765" "subst" "0.000655837" "00006" "EYA4_000016" "g.133789765C>T" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "EYA4 T266M" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.133468627C>T" "" "VUS" "" "0000976994" "0" "70" "6" "133783615" "133783615" "subst" "4.06845E-6" "02327" "EYA4_000107" "g.133783615G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000976995" "0" "50" "6" "133833863" "133833863" "subst" "4.06474E-6" "01804" "EYA4_000111" "g.133833863G>C" "" "" "" "EYA4(NM_004100.5):c.1286G>C (p.(Cys429Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976996" "0" "30" "6" "133846174" "133846174" "subst" "5.69226E-5" "01804" "EYA4_000112" "g.133846174G>A" "" "" "" "EYA4(NM_001301012.2):c.1598G>A (p.(Arg533His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000995344" "0" "70" "6" "133804184" "133804184" "subst" "0" "02327" "EYA4_000113" "g.133804184G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000995345" "0" "50" "6" "133834060" "133834060" "subst" "0" "02327" "EYA4_000114" "g.133834060G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001020224" "0" "50" "6" "133703528" "133703528" "subst" "0" "03779" "EYA4_000116" "g.133703528A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1786297103" "0" "" "" "" "" "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 EYA4 ## Count = 142 "{{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}}" "0000021264" "00007328" "50" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Pro155fs)" "-" "0000021265" "00007328" "50" "1810" "0" "1810" "0" "c.1810G>T" "r.(?)" "p.(Gly604Cys)" "-" "0000040386" "00007328" "30" "283" "0" "283" "0" "c.283C>G" "r.(?)" "p.(Leu95Val)" "6" "0000089789" "00007328" "90" "441" "0" "441" "0" "c.441del" "r.(?)" "p.(Tyr148Ilefs*50)" "8" "0000089913" "00007328" "50" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Val371Met)" "" "0000248269" "00007328" "30" "1338" "0" "1338" "0" "c.1338A>G" "r.(?)" "p.(Leu446=)" "" "0000251715" "00007328" "30" "1338" "0" "1338" "0" "c.1338A>G" "r.(?)" "p.(Leu446=)" "" "0000256385" "00007328" "50" "961" "0" "961" "0" "c.961A>G" "r.(?)" "p.(Asn321Asp)" "" "0000267924" "00007328" "30" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(Asn615=)" "" "0000267925" "00007328" "30" "324" "0" "324" "0" "c.324C>G" "r.(?)" "p.(Thr108=)" "" "0000267926" "00007328" "30" "348" "0" "348" "0" "c.348G>A" "r.(?)" "p.(Ala116=)" "" "0000267927" "00007328" "30" "580" "14" "580" "16" "c.580+14_580+16del" "r.(=)" "p.(=)" "" "0000267928" "00007328" "30" "804" "17" "804" "17" "c.804+17T>C" "r.(=)" "p.(=)" "" "0000267929" "00007328" "10" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Ser)" "" "0000267930" "00007328" "30" "879" "0" "879" "0" "c.879T>C" "r.(?)" "p.(Tyr293=)" "" "0000267931" "00007328" "30" "888" "0" "888" "0" "c.888G>A" "r.(?)" "p.(Ser296=)" "" "0000267932" "00007328" "30" "971" "-7" "971" "-7" "c.971-7T>C" "r.(=)" "p.(=)" "" "0000271274" "00007328" "30" "1035" "0" "1035" "0" "c.1035G>C" "r.(?)" "p.(Arg345Ser)" "" "0000271275" "00007328" "30" "1617" "-11" "1617" "-11" "c.1617-11C>T" "r.(=)" "p.(=)" "" "0000271276" "00007328" "30" "1739" "-93" "1739" "-93" "c.1739-93C>A" "r.(=)" "p.(=)" "" "0000271277" "00007328" "10" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(Asn615=)" "" "0000271278" "00007328" "50" "1888" "0" "1888" "0" "c.1888C>G" "r.(?)" "p.(Leu630Val)" "" "0000271279" "00007328" "30" "208" "7" "208" "7" "c.208+7G>T" "r.(=)" "p.(=)" "" "0000271280" "00007328" "50" "262" "0" "262" "0" "c.262C>A" "r.(?)" "p.(Pro88Thr)" "" "0000271281" "00007328" "30" "277" "9" "277" "9" "c.277+9G>A" "r.(=)" "p.(=)" "" "0000271282" "00007328" "50" "620" "0" "620" "0" "c.620G>C" "r.(?)" "p.(Gly207Ala)" "" "0000271283" "00007328" "30" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Thr289Met)" "" "0000271284" "00007328" "30" "987" "0" "987" "0" "c.987G>T" "r.(?)" "p.(Met329Ile)" "" "0000276464" "00007328" "30" "1035" "0" "1035" "0" "c.1035G>C" "r.(?)" "p.(Arg345Ser)" "" "0000276465" "00007328" "50" "134" "0" "134" "0" "c.134G>A" "r.(?)" "p.(Gly45Asp)" "" "0000276466" "00007328" "30" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(Asn615=)" "" "0000276467" "00007328" "10" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Ser)" "" "0000276468" "00007328" "30" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Asp327Asn)" "" "0000337155" "00007328" "10" "1943" "0" "1943" "0" "c.*23C>T" "r.(=)" "p.(=)" "" "0000339403" "00007328" "30" "1338" "0" "1338" "0" "c.1338A>G" "r.(?)" "p.(Leu446=)" "" "0000343803" "00007328" "10" "1845" "0" "1845" "0" "c.1845C>T" "r.(?)" "p.(Asn615=)" "" "0000344659" "00007328" "90" "634" "0" "634" "0" "c.634C>T" "r.(?)" "p.(Gln212Ter)" "" "0000345944" "00007328" "10" "829" "0" "829" "0" "c.829G>A" "r.(?)" "p.(Gly277Ser)" "" "0000347209" "00007328" "50" "1589" "0" "1589" "0" "c.1589T>G" "r.(?)" "p.(Leu530Arg)" "" "0000349417" "00007328" "50" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Thr289Met)" "" "0000349967" "00007328" "90" "578" "0" "578" "0" "c.578dup" "r.(?)" "p.(Tyr193Ter)" "" "0000527224" "00007328" "30" "277" "9" "277" "9" "c.277+9G>A" "r.(=)" "p.(=)" "" "0000527225" "00007328" "50" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Pro102Leu)" "" "0000527226" "00007328" "50" "332" "0" "332" "0" "c.332C>T" "r.(?)" "p.(Thr111Met)" "" "0000527227" "00007328" "50" "379" "0" "379" "0" "c.379A>G" "r.(?)" "p.(Ser127Gly)" "" "0000527228" "00007328" "50" "415" "0" "415" "0" "c.415T>A" "r.(?)" "p.(Ser139Thr)" "" "0000527229" "00007328" "50" "538" "0" "538" "0" "c.538G>A" "r.(?)" "p.(Ala180Thr)" "" "0000527230" "00007328" "30" "580" "8" "580" "8" "c.580+8A>C" "r.(=)" "p.(=)" "" "0000527231" "00007328" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Thr261=)" "" "0000527232" "00007328" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Thr261=)" "" "0000527233" "00007328" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Thr261=)" "" "0000527234" "00007328" "30" "813" "0" "813" "0" "c.813A>G" "r.(?)" "p.(Pro271=)" "" "0000527235" "00007328" "50" "838" "0" "838" "0" "c.838C>A" "r.(?)" "p.(Gln280Lys)" "" "0000527236" "00007328" "30" "888" "0" "888" "0" "c.888G>A" "r.(?)" "p.(Ser296=)" "" "0000527237" "00007328" "30" "961" "0" "961" "0" "c.961A>G" "r.(?)" "p.(Asn321Asp)" "" "0000527238" "00007328" "30" "970" "14" "970" "14" "c.970+14C>A" "r.(=)" "p.(=)" "" "0000527239" "00007328" "50" "970" "14" "970" "14" "c.970+14C>A" "r.(=)" "p.(=)" "" "0000527240" "00007328" "30" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "" "0000527241" "00007328" "50" "1364" "0" "1364" "0" "c.1364G>T" "r.(?)" "p.(Gly455Val)" "" "0000527242" "00007328" "70" "1431" "0" "1431" "0" "c.1431G>A" "r.(?)" "p.(Trp477Ter)" "" "0000527243" "00007328" "30" "1502" "-6" "1502" "-6" "c.1502-6T>C" "r.(=)" "p.(=)" "" "0000527244" "00007328" "30" "1739" "-48" "1739" "-48" "c.1739-48C>T" "r.(=)" "p.(=)" "" "0000527245" "00007328" "50" "1810" "0" "1810" "0" "c.1810G>T" "r.(?)" "p.(Gly604Cys)" "" "0000527246" "00007328" "90" "1839" "2" "1839" "2" "c.1839+2T>G" "r.spl?" "p.?" "" "0000610028" "00007328" "30" "-65" "-4" "-65" "-4" "c.-65-4T>G" "r.spl?" "p.?" "" "0000610029" "00007328" "30" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Asp46Asn)" "" "0000610030" "00007328" "90" "799" "0" "799" "0" "c.799C>T" "r.(?)" "p.(Gln267Ter)" "" "0000610031" "00007328" "30" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Thr289Met)" "" "0000610032" "00007328" "30" "1035" "0" "1035" "0" "c.1035G>C" "r.(?)" "p.(Arg345Ser)" "" "0000610033" "00007328" "90" "1200" "0" "1200" "0" "c.1200dup" "r.(?)" "p.(Met401HisfsTer15)" "" "0000610034" "00007328" "50" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Cys)" "" "0000610035" "00007328" "50" "1451" "0" "1451" "0" "c.1451G>A" "r.(?)" "p.(Arg484His)" "" "0000621637" "00007328" "30" "123" "0" "123" "0" "c.123T>C" "r.(?)" "p.(Leu41=)" "" "0000621638" "00007328" "30" "1347" "0" "1347" "0" "c.1347C>T" "r.(?)" "p.(Tyr449=)" "" "0000640144" "00007328" "55" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "2" "0000640145" "00007328" "99" "152" "0" "152" "0" "c.152C>T" "r.(?)" "p.(Ser51Phe)" "4" "0000640146" "00007328" "55" "215" "0" "215" "0" "c.215A>G" "r.(?)" "p.(Asn72Ser)" "5" "0000640147" "00007328" "55" "233" "0" "233" "0" "c.233C>G" "r.(?)" "p.(Thr78Arg)" "5" "0000640148" "00007328" "33" "237" "0" "237" "0" "c.237A>G" "r.(=)" "p.(=)" "5" "0000640149" "00007328" "55" "263" "0" "263" "0" "c.263C>G" "r.(?)" "p.(Pro88Arg)" "5" "0000640150" "00007328" "77" "464" "0" "464" "0" "c.464del" "r.(?)" "p.(Pro155Glnfs*43)" "8" "0000640151" "00007328" "55" "563" "0" "563" "0" "c.563A>G" "r.(?)" "p.(Tyr188Cys)" "8" "0000640152" "00007328" "99" "579" "0" "580" "0" "c.579_580insTACC" "r.(?)" "p.(Asp194Tyrfs*52)" "8" "0000640153" "00007328" "55" "662" "0" "662" "0" "c.662G>A" "r.(?)" "p.(Ser221Asn)" "9" "0000640154" "00007328" "33" "744" "0" "744" "0" "c.744A>G" "r.(=)" "p.(=)" "10" "0000640155" "00007328" "33" "805" "-12" "805" "-12" "c.805-12T>C" "r.(=)" "p.(=)" "10i" "0000640156" "00007328" "99" "863" "0" "863" "0" "c.863C>A" "r.(?)" "p.(Ser288*)" "11" "0000640157" "00007328" "55" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Thr289Met)" "11" "0000640158" "00007328" "55" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Ser296Leu)" "11" "0000640159" "00007328" "55" "907" "0" "908" "0" "c.907_908insTGGCAA" "r.(?)" "p.(Gly302_Thr303insMetAla)" "11" "0000640160" "00007328" "90" "978" "0" "978" "0" "c.978C>G" "r.(?)" "p.(Phe326Leu)" "11" "0000640161" "00007328" "55" "979" "0" "979" "0" "c.979G>A" "r.(?)" "p.(Asp327Asn)" "11" "0000640162" "00007328" "99" "1026" "0" "1027" "0" "c.1026_1027dup" "r.(?)" "p.(Lys343Thrfs*68)" "12" "0000640163" "00007328" "99" "1048" "0" "1049" "0" "c.1048_1049dup" "r.(?)" "p.(Arg351Valfs*60)" "12" "0000640164" "00007328" "55" "1097" "0" "1097" "0" "c.1097G>A" "r.(?)" "p.(Ser366Asn)" "12" "0000640165" "00007328" "55" "1109" "0" "1109" "0" "c.1109G>A" "r.(?)" "p.(Arg370His)" "12" "0000640166" "00007328" "99" "1115" "0" "1118" "0" "c.1115_1118dup" "r.(?)" "p.(Asp373Glufs*2)" "12" "0000640167" "00007328" "99" "1177" "0" "1177" "0" "c.1177C>T" "r.(?)" "p.(Leu393Phe)" "13" "0000640168" "00007328" "99" "1282" "-12" "1282" "-12" "c.1282-12T>A" "r.spl?" "p.(=)" "13i" "0000640169" "00007328" "55" "1294" "0" "1294" "0" "c.1294G>C" "r.(?)" "p.(Val432Leu)" "14" "0000640170" "00007328" "99" "1301" "0" "1301" "0" "c.1301T>A" "r.(?)" "p.(Ile434Lys)" "15" "0000640171" "00007328" "99" "1341" "-19" "1341" "-19" "c.1341-19T>A" "r.spl?" "p.(=)" "14i" "0000640172" "00007328" "55" "1418" "0" "1418" "0" "c.1418G>T" "r.(?)" "p.(Gly473Val)" "16" "0000640173" "00007328" "55" "1603" "0" "1603" "0" "c.1603A>G" "r.(?)" "p.(Ile535Val)" "17" "0000640174" "00007328" "55" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(Tyr562Cys)" "18" "0000640175" "00007328" "55" "1739" "-85" "1739" "-81" "c.1739-85_1739-81del" "r.spl?" "p.(=)" "17i" "0000640176" "00007328" "77" "1739" "-1" "1739" "-1" "c.1739-1G>A" "r.spl?" "p.?" "17i" "0000640177" "00007328" "99" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Arg587*)" "19" "0000640178" "00007328" "77" "1810" "0" "1810" "0" "c.1810G>T" "r.(?)" "p.(Gly604Cys)" "19" "0000655485" "00007328" "70" "337" "0" "350" "0" "c.337_350del" "r.(?)" "p.(Gly113Ter)" "" "0000677625" "00007328" "50" "1319" "0" "1319" "0" "c.1319A>T" "r.(?)" "p.(Asp440Val)" "" "0000677626" "00007328" "30" "1338" "0" "1338" "0" "c.1338A>G" "r.(?)" "p.(Leu446=)" "" "0000677627" "00007328" "30" "1796" "0" "1796" "0" "c.1796T>C" "r.(?)" "p.(Val599Ala)" "" "0000677628" "00007328" "70" "1840" "-1" "1840" "-1" "c.1840-1G>C" "r.spl?" "p.?" "" "0000703998" "00007328" "90" "543" "0" "543" "0" "c.543C>G" "r.(?)" "p.(Tyr181*)" "" "0000712146" "00007328" "70" "697" "0" "697" "0" "c.697C>T" "r.(?)" "p.(Gln233*)" "" "0000720676" "00007328" "30" "278" "-5" "278" "-5" "c.278-5C>T" "r.spl?" "p.?" "" "0000720677" "00007328" "30" "278" "-4" "278" "-4" "c.278-4G>A" "r.spl?" "p.?" "" "0000720678" "00007328" "30" "987" "0" "987" "0" "c.987G>T" "r.(?)" "p.(Met329Ile)" "" "0000720679" "00007328" "30" "1423" "0" "1423" "0" "c.1423G>A" "r.(?)" "p.(Val475Ile)" "" "0000763349" "00007328" "90" "437" "234" "970" "2394" "c.437+234_970+2394del" "r.(?)" "p.(Pro147Argfs*16)" "" "0000791040" "00007328" "50" "59" "0" "59" "0" "c.59A>G" "r.(?)" "p.(Asp20Gly)" "" "0000802318" "00007328" "30" "370" "17" "370" "17" "c.370+17G>C" "r.(=)" "p.(=)" "" "0000802319" "00007328" "50" "570" "0" "570" "0" "c.570G>T" "r.(?)" "p.(Leu190Phe)" "" "0000851073" "00007328" "50" "1117" "0" "1117" "0" "c.1117G>T" "r.(?)" "p.(Val373Phe)" "" "0000860171" "00007328" "50" "238" "0" "238" "0" "c.238G>A" "r.(?)" "p.(Asp80Asn)" "" "0000860172" "00007328" "50" "1523" "0" "1523" "0" "c.1523G>A" "r.(?)" "p.(Arg508Lys)" "" "0000912407" "00007328" "10" "1943" "0" "1943" "0" "c.*23C>T" "r.(=)" "p.(=)" "" "0000924431" "00007328" "50" "89" "0" "89" "0" "c.89T>A" "r.(?)" "p.(Met30Lys)" "" "0000929151" "00007328" "90" "1021" "0" "1021" "0" "c.1021G>T" "r.(?)" "p.(Glu341*)" "" "0000944321" "00007328" "70" "580" "0" "580" "0" "c.580G>A" "r.(438_580)" "p.(Pro147fs)" "" "0000944322" "00007328" "70" "1616" "3" "1616" "3" "c.1616+3A>G" "r.(1501_1616del)" "p.(Leu502fs)" "" "0000944331" "00007328" "70" "146" "0" "4330" "0" "c.(84-20_146)_(*2410_?)del" "r.?" "p.?" "" "0000948655" "00007328" "30" "224" "0" "224" "0" "c.224T>A" "r.(?)" "p.(Val75Asp)" "" "0000957853" "00007328" "70" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408His)" "" "0000957913" "00007328" "50" "866" "0" "866" "0" "c.866C>T" "r.(?)" "p.(Thr289Met)" "" "0000976994" "00007328" "70" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Asp194Asn)" "" "0000976995" "00007328" "50" "1286" "0" "1286" "0" "c.1286G>C" "r.(?)" "p.(Cys429Ser)" "" "0000976996" "00007328" "30" "1739" "-118" "1739" "-118" "c.1739-118G>A" "r.(=)" "p.(=)" "" "0000995344" "00007328" "70" "1122" "0" "1122" "0" "c.1122G>A" "r.(?)" "p.(Trp374*)" "" "0000995345" "00007328" "50" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Ser462Asn)" "" "0001020224" "00007328" "50" "34" "-2" "34" "-2" "c.34-2A>G" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 49 "{{screeningid}}" "{{variantid}}" "0000002899" "0000021264" "0000002899" "0000021265" "0000019900" "0000040386" "0000058988" "0000089789" "0000059116" "0000089913" "0000284402" "0000640144" "0000284403" "0000640145" "0000284404" "0000640146" "0000284405" "0000640147" "0000284406" "0000640148" "0000284407" "0000640149" "0000284408" "0000640150" "0000284409" "0000640151" "0000284410" "0000640152" "0000284411" "0000640153" "0000284412" "0000640154" "0000284413" "0000640155" "0000284414" "0000640156" "0000284415" "0000640157" "0000284416" "0000640158" "0000284417" "0000640159" "0000284418" "0000640160" "0000284419" "0000640161" "0000284420" "0000640162" "0000284421" "0000640163" "0000284422" "0000640164" "0000284423" "0000640165" "0000284424" "0000640166" "0000284425" "0000640167" "0000284426" "0000640168" "0000284427" "0000640169" "0000284428" "0000640170" "0000284429" "0000640171" "0000284430" "0000640172" "0000284431" "0000640173" "0000284432" "0000640174" "0000284433" "0000640175" "0000284434" "0000640176" "0000284435" "0000640177" "0000284436" "0000640178" "0000321192" "0000703998" "0000328209" "0000712146" "0000362957" "0000763349" "0000378318" "0000791040" "0000442963" "0000944321" "0000442964" "0000944322" "0000442972" "0000944331" "0000448414" "0000957913" "0000448446" "0000957853"